id category name description provided_by synonym 0000114 0000231 0000233 0000234 0000424 0000589 0006012 0100001 :http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl :http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg :http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg :http://geneontology.org/formats/oboInOwl#created_by :https://w3id.org/biodatamodels/gff/end :https://w3id.org/biodatamodels/gff/start BFO_CLIF_specification_label BFO_OWL_specification_label Date P371 alternative_term close_match comment consider created_by creation_date creator curator_note definition_source deprecated editor_note editor_preferred_term elucidation example_of_usage genome_build has_alternative_id has_associated_axiom(fol) has_associated_axiom(nl) has_o_b_o_format_version has_o_b_o_namespace has_synonym homepage imported_from in_subset is_class_level is_metadata_tag knowledge_source license logical_interpretation mondo#excluded_synonym mondo#pathogenesis mondo#related object predicate prior_version relation see_also shorthand source subject term_editor type GO:0106064 biolink:NamedThing regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0065007 biolink:NamedThing biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. tmpak2llvmy_mondo_relaxed.owl regulation owl:Class MONDO:0014264 biolink:NamedThing otosclerosis 10 tmpak2llvmy_mondo_relaxed.owl OTSC10|otosclerosis 10 OMIM:615589 owl:Class MONDO:0005349 biolink:NamedThing otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. tmpak2llvmy_mondo_relaxed.owl otosclerosis|otosclerosis (disease) otosclerosis (disease) ICD9:387|ICD10:H80.8|HP:0000362|EFO:0004213|OMIMPS:166800|DOID:12185|SCTID:11543004|MESH:D010040|ICD9:387.8|ICD9:387.9|UMLS:C0029899|ICD10:H80.80 owl:Class HGNC:4685 biolink:NamedThing GUCY1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000704 biolink:NamedThing gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. tmpak2llvmy_mondo_relaxed.owl INSDC_feature:gene owl:Class MONDO:0017364 biolink:NamedThing POEMS syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. tmpak2llvmy_mondo_relaxed.owl polyneuropathy organomegaly|POEMS syndrome|PEP syndrome|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Crow-Fukase syndrome|osteosclerotic myeloma|Takatsuki syndrome GARD:0007411|EFO:1001115|DOID:14039|ICD10:D47.7|MedDRA:10053869|MESH:D016878|Orphanet:2905|SCTID:79268002|NCIT:C80303|UMLS:C0085404 POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. owl:Class MONDO:0016178 biolink:NamedThing peripheral neuropathy associated with monoclonal gammopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:209010 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: peripheral neuropathy associated with monoclonal gammopathy' MONDO_0016178 owl:Class MONDO:0001322 biolink:NamedThing pericardium cancer A malignant neoplasm involving the pericardium. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of pericardium|malignant tumor of the pericardium|pericardium cancer|malignant pericardium neoplasm|pericardial tumor|malignant pericardial neoplasm|malignant neoplasm of the pericardium|malignant pericardial tumor|malignant tumor of pericardium|cancer of pericardium ICD10:C38.0|UMLS:C0346609|NCIT:C4567|DOID:116 owl:Class MONDO:0001340 biolink:NamedThing heart cancer A malignant neoplasm involving the heart tmpak2llvmy_mondo_relaxed.owl heart cancer|malignant neoplasm of the heart|malignant tumor of heart|malignant heart neoplasm|tumour of heart|Cardiac tumor|malignant Cardiac tumor|malignant Cardiac neoplasm|malignant neoplasm of heart|malignant heart tumor|Cardiac neoplasm, malignant|malignant tumor of the heart|cancer of heart DOID:117|ICD9:164.1|ICD10:C38.0|NCIT:C3548|MESH:D006338 owl:Class MONDO:0010142 biolink:NamedThing hypothyroidism due to TSH receptor mutations Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. tmpak2llvmy_mondo_relaxed.owl hypothyroidism, Nonautoimmune|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, congenital, nongoitrous, type 1|hypothyroidism, congenital, nongoitrous, 1|thyroid-stimulating hormone, resistance to|CHNG1|hypothyroidism due to unresponsiveness to thyrotropin|TSH resistance|congenital nongoitrous hypothryoidism 1|congenital nongoitrous hypothyroidism 1|thyrotropin resistance UMLS:CN206435|UMLS:C3493776|Orphanet:90673|OMIM:275200|ICD10:E03.1|DOID:0070126 owl:Class MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous tmpak2llvmy_mondo_relaxed.owl OMIMPS:275200 owl:Class UBERON:0006287 biolink:NamedThing radius-ulna pre-cartilage condensation A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005866 biolink:NamedThing pre-cartilage condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. tmpak2llvmy_mondo_relaxed.owl precartilagenous condensation|precartilage condensation|pre-chondrogenic condensation|prechondrogenic condensation owl:Class MONDO:0000539 biolink:NamedThing striated muscle rhabdoid tumor A rhabdoid tumor that involves the striated muscle tissue. tmpak2llvmy_mondo_relaxed.owl striated muscle tissue rhabdoid tumor DOID:0050924 owl:Class MONDO:0003939 biolink:NamedThing muscle tissue disease A disease involving the muscle tissue. tmpak2llvmy_mondo_relaxed.owl disease of muscle tissue|muscle tissue disease|disease or disorder of muscle tissue|disorder of muscle tissue|muscle tissue disease or disorder DOID:66 owl:Class UBERON:0006966 biolink:NamedThing coronary capillary A capillary that is part of the coronary system. tmpak2llvmy_mondo_relaxed.owl heart capillary owl:Class UBERON:0003498 biolink:NamedThing heart blood vessel A blood vessel that is part of a heart [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac blood vessel|blood vessel of heart owl:Class NCBITaxon:46839 biolink:NamedThing Colorado tick fever virus tmpak2llvmy_mondo_relaxed.owl CTFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2748762 biolink:NamedThing Colorado tick fever coltivirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:5101466 biolink:NamedThing pedal digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl pedal digit|pedal digit skeleton owl:Class UBERON:5102544 biolink:NamedThing individual digit of digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl digit skeleton|digit owl:Class HP:0100699 biolink:NamedThing Scarring tmpak2llvmy_mondo_relaxed.owl Scarring|Scar tissue UMLS:C0008767|MSH:D002921|SNOMEDCT_US:48677004 koehlers 2011-03-29T06:39:56Z human_phenotype owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). tmpak2llvmy_mondo_relaxed.owl UMLS:C4025596 human_phenotype owl:Class UBERON:0007257 biolink:NamedThing intervertebral disk of sacral vertebra An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra tmpak2llvmy_mondo_relaxed.owl intervertebral disc of sacral region owl:Class UBERON:0005179 biolink:NamedThing pelvic region element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. tmpak2llvmy_mondo_relaxed.owl pelvis region organ|pelvic element|pelvis organ owl:Class CHEBI:17792 biolink:NamedThing organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). tmpak2llvmy_mondo_relaxed.owl organic halide|RX|organic halides|organohalogen compounds owl:Class CHEBI:37578 biolink:NamedThing halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. tmpak2llvmy_mondo_relaxed.owl halides owl:Class UBERON:0010698 biolink:NamedThing manual digit metacarpus pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl metacarpal bone pre-cartilage condensation|hand digit metacarpus pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation|metacarpus pre-cartilage condensation|metacarpal pre-cartilage condensation owl:Class UBERON:0010884 biolink:NamedThing forelimb bone pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a forelimb bone. tmpak2llvmy_mondo_relaxed.owl wing bone pre-cartilage condensation owl:Class MONDO:0012190 biolink:NamedThing nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome tmpak2llvmy_mondo_relaxed.owl nephropathy with pretibial epidermolysis bullosa and deafness|nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome OMIM:609057|MESH:C563798|UMLS:C1836823|Orphanet:300333 owl:Class MONDO:0019723 biolink:NamedThing disease of glomerular basement membrane tmpak2llvmy_mondo_relaxed.owl basement membrane disease UMLS:CN206630|Orphanet:93550 owl:Class GO:0045260 biolink:NamedThing plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. tmpak2llvmy_mondo_relaxed.owl hydrogen-translocating F-type ATPase complex|hydrogen-transporting ATP synthase|plasma membrane hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex owl:Class GO:0098797 biolink:NamedThing plasma membrane protein complex Any protein complex that is part of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017121 biolink:NamedThing syndrome with a Dandy-Walker malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:269546|UMLS:CN202471 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0017118 biolink:NamedThing syndrome with a cerebellar malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:269523|UMLS:CN202468 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0005541 biolink:NamedThing spondylolysis A defect in the pars interarticularis of a vertebral bone. tmpak2llvmy_mondo_relaxed.owl spondylolysis (disease)|spondylolysis spondylolysis (disease) ICD10:M43.00|ICD10:M43.0|NCIT:C35034|MESH:D013169|EFO:0005649|DOID:2300|HP:0003304|UMLS:C0038018|SCTID_2010_1_31:240221008|SCTID:240221008 owl:Class MONDO:0000836 biolink:NamedThing disease of bone structure tmpak2llvmy_mondo_relaxed.owl bone structure disease DOID:0080010 owl:Class MONDO:0044638 biolink:NamedThing hypopharynx squamous cell carcinoma A squamous cell carcinoma that involves the hypopharynx. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of hypopharynx|hypopharyngeal epidermoid carcinoma|hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|squamous cell carcinoma of hypopharynx|epidermoid carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer Orphanet:494547|NCIT:C4043|EFO:1001960|ONCOTREE:HPHSC owl:Class MONDO:0005096 biolink:NamedThing squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma|carcinoma, squamous cell, malignant|squamous cell carcinoma (morphologic abnormality)|epidermoid cell cancer|squamous carcinoma|squamous cell carcinoma|malignant epidermoid cell tumor|malignant epidermoid cell neoplasm|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell tumor|malignant squamous cell neoplasm|squamous cell cancer|squamous cell epithelioma DOID:1749|UMLS:C0007137|SCTID:402815007|ICDO:8070/3|EFO:0000707|MESH:D002294|NCIT:C2929|GARD:0001091 owl:Class MONDO:0006644 biolink:NamedThing alcoholic liver cirrhosis A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. tmpak2llvmy_mondo_relaxed.owl alcoholic cirrhosis of liver|Laennec's cirrhosis, alcoholic|Laennec's cirrhosis|portal cirrhosis|alcoholic cirrhosis MedDRA:10001618|ICD10:K70.3|MESH:D008104|UMLS:C1622502|DOID:14018|CSP:1754-7677|ICD9:571.2|SCTID:419728003|EFO:1000802|UMLS:C0023891|NCIT:C34782 owl:Class MONDO:0043693 biolink:NamedThing alcoholic liver diseases A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. tmpak2llvmy_mondo_relaxed.owl alcoholic liver disease|liver disease, alcoholic|alcoholic liver damage|alcoholic liver diseases NCIT:C34783|MESH:D008108|EFO:0008573|SCTID:41309000 owl:Class MONDO:0007127 biolink:NamedThing diffuse idiopathic skeletal hyperostosis This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. tmpak2llvmy_mondo_relaxed.owl ankylosing vertebral hyperostosis|diffuse idiopathic skeletal hyperostosis|Forestier disease|ankylosing vertebral hyperostosis with tylosis|disseminated idiopathic skeletal hyperostosis|dish|Forestier's disease SCTID:31487001|MESH:D004057|ICD9:721.6|UMLS:C0020498|DOID:6652|Orphanet:2206|GARD:0000842|ICD9:733.99|OMIM:106400|EFO:0007236|ICD10:M48.1|NCIT:C84671 owl:Class MONDO:0002185 biolink:NamedThing hyperostosis Excessive thickening of bone. tmpak2llvmy_mondo_relaxed.owl hypertrophy of bone (morphologic abnormality)|hypertrophy of bone|bone hypertrophy ICD10:M89.3|UMLS:C0020492|MESH:D015576|DOID:205|NCIT:C34712|SCTID:203514008|ICD10:M89.30|ICD9:733.99 owl:Class GO:0002866 biolink:NamedThing positive regulation of acute inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl up regulation of acute inflammatory response to antigenic stimulus|up-regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus owl:Class MONDO:0001095 biolink:NamedThing mediastinum neuroblastoma A neuroblastoma arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of mediastinum|neuroblastoma of the mediastinum|mediastinal neuroblastoma|mediastinum neuroblastoma DOID:10660|UMLS:C1334673|NCIT:C6628|EFO:1000367 owl:Class MONDO:0021089 biolink:NamedThing peripheral nervous system cancer Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of PNS|malignant tumor of PNS|malignant peripheral nervous system neoplasm|peripheral nervous system cancer|malignant tumor of peripheral nerve|cancer of peripheral nervous system|malignant PNS neoplasm|malignant neoplasm of the peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of the PNS|malignant PNS tumor|malignant tumor of the peripheral nervous system|malignant tumor of the PNS|malignant peripheral nerve neoplasm|malignant neoplasm of peripheral nerve|malignant tumor of the peripheral nerve|malignant neoplasms, peripheral nerve|peripheral nervous system neoplasms, malignant|malignant neoplasm of the peripheral nervous system|malignant neoplasm of peripheral nervous system|malignant peripheral nervous system tumor|malignant tumor of peripheral nervous system ICD9:171.9|NCIT:C4961|SCTID:254986007|UMLS:C0751428 owl:Class UBERON:0007148 biolink:NamedThing lumen of hindgut An anatomical cavity that surrounded_by a hindgut. tmpak2llvmy_mondo_relaxed.owl hindgut lumen owl:Class OBO:CARO_0000000 biolink:NamedThing anatomical entity tmpak2llvmy_mondo_relaxed.owl owl:Class owl:Nothing biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001091 biolink:NamedThing calcareous tooth Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. tmpak2llvmy_mondo_relaxed.owl dentine containing tooth|tooth|vertebrate tooth|dental element owl:Class MONDO:0013937 biolink:NamedThing peroxisome biogenesis disorder 6B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder type 6B|peroxisome biogenesis disorder 6B|PBD6B UMLS:C3553948|NCIT:C155759|OMIM:614871 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100264 biolink:NamedThing peroxisome biogenesis disorder due to PEX10 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX10 defect|PEX10 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0016161 biolink:NamedThing cerebral gigantism-jaw cysts syndrome Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. tmpak2llvmy_mondo_relaxed.owl cerebral gigantism jaw cysts|Cramer-Niederdellmann syndrome|Cramer Niederdellmann syndrome GARD:0001206|Orphanet:2081|SCTID:725418006|UMLS:CN200907|ICD10:Q04.8 https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts owl:Class MONDO:0015220 biolink:NamedThing syndrome with a central nervous system malformation as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:108991|UMLS:CN197562 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class SO:0002121 biolink:NamedThing vertebrate_immune_system_gene The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci). tmpak2llvmy_mondo_relaxed.owl immune_gene owl:Class MONDO:0003303 biolink:NamedThing neurofibroma of gallbladder A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpak2llvmy_mondo_relaxed.owl neurofibroma of gall bladder|gall bladder neurofibroma|gallbladder neurofibroma|neurofibroma of gallbladder|neurofibroma of the gallbladder NCIT:C5746|UMLS:C1333751|DOID:5150 owl:Class MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic neurological disorder|genetic nervous system disorder|rare genetic neurological disorder UMLS:CN205639|Orphanet:71859 owl:Class MONDO:0009665 biolink:NamedThing biotinidase deficiency Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. tmpak2llvmy_mondo_relaxed.owl multiple carboxylase deficiency, late-onset|BTD deficiency|juvenile-onset multiple carboxylase deficiency|biotinidase deficiency|late-onset biotin-responsive multiple carboxylase deficiency|late-onset multiple carboxylase deficiency|biotin deficiency|deficiency of biotinidase|multiple carboxylase deficiency, juvenile-onset MedDRA:10071434|Orphanet:79241|MESH:D028921|ICD10:D81.810|UMLS:CN043572|UMLS:C0220754|SCTID:8808004|DOID:856|ICD9:277.6|ICD10:E53.8|GARD:0000894|NCIT:C84598|OMIM:253260 owl:Class MONDO:0015454 biolink:NamedThing multiple carboxylase deficiency Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. tmpak2llvmy_mondo_relaxed.owl MCD|multiple carboxylase deficiency UMLS:C0026755|Orphanet:148|GARD:0003824|ICD10:D81.81|MedDRA:10028176|ICD10:E53.8|ICD10:D81.819|DOID:857|MESH:D009100 owl:Class UBERON:0008203 biolink:NamedThing pelvic cavity The part of the ventral body cavity that is within the pelvis. tmpak2llvmy_mondo_relaxed.owl space of pelvic compartment|cavitas pelvis owl:Class UBERON:0002553 biolink:NamedThing anatomical cavity Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. tmpak2llvmy_mondo_relaxed.owl cavity owl:Class GO:0001979 biolink:NamedThing regulation of systemic arterial blood pressure by chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpak2llvmy_mondo_relaxed.owl chemoreceptor regulation of systemic arterial blood pressure|chemoreceptor control of blood pressure|regulation of systemic arterial blood pressure by chemoreceptor signalling owl:Class GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure The regulation of blood pressure mediated by detection of stimuli and a neurological response. tmpak2llvmy_mondo_relaxed.owl neurological process involved in regulation of systemic arterial blood pressure|fast control of arterial pressure|blood pressure regulation by neurological process|neurological system process involved in regulation of systemic arterial blood pressure owl:Class HGNC:10288 biolink:NamedThing RP9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030921 biolink:NamedThing intellectual disability, autosomal dominant 55, with seizures tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 55|intellectual disability, autosomal dominant 55, with seizures|autosomal dominant intellectual disability 55|mental retardation, autosomal dominant 55, with seizures|MRD55 UMLS:CN757796|DOID:0080227|OMIM:617831 owl:Class MONDO:0015802 biolink:NamedThing autosomal dominant non-syndromic intellectual disability Autosomal dominant form of non-syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant mental retardation DOID:0060307|GARD:0012107|UMLS:CN200399|Orphanet:178469 Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability owl:Class MONDO:0007950 biolink:NamedThing mastocytosis A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. tmpak2llvmy_mondo_relaxed.owl mastocytosis|urticaria pigmentosa|Mast cell disease|mast cell hyperplasia|MAST cell disease ICD10:D47.0|ICD10:C96.2|MedDRA:10026891|DOID:350|MESH:D008415|Orphanet:98292|UMLS:C0024899|OMIM:154800|GARD:0006987|NCIT:C84269|ONCOTREE:MCD|ICD10:Q82.2 owl:Class MONDO:0019044 biolink:NamedThing tumor of hematopoietic and lymphoid tissues tmpak2llvmy_mondo_relaxed.owl UMLS:CN205528|Orphanet:68347 owl:Class MONDO:0010395 biolink:NamedThing phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). tmpak2llvmy_mondo_relaxed.owl PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity|PRPS1 superactivity|gout, PRPS-related DOID:0111260|SCTID:723454008|OMIM:300661|MESH:C567064|UMLS:C1970827|Orphanet:3222|ICD10:E79.8 owl:Class MONDO:0019743 biolink:NamedThing nephropathy secondary to a storage or other metabolic disease tmpak2llvmy_mondo_relaxed.owl Orphanet:93593|UMLS:CN206659 owl:Class GO:0034982 biolink:NamedThing mitochondrial protein processing The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. tmpak2llvmy_mondo_relaxed.owl mitochondrial protein modification owl:Class GO:0016485 biolink:NamedThing protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. tmpak2llvmy_mondo_relaxed.owl protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|protein maturation by proteolysis|peptidolysis during protein maturation owl:Class ECTO:9000044 biolink:NamedThing exposure to ketone An exposure to ketone. tmpak2llvmy_mondo_relaxed.owl exposure to ketone owl:Class ExO:0000002 biolink:NamedThing exposure event tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002969 biolink:NamedThing ciliary body cancer A malignant neoplasm involving the ciliary body. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the ciliary body|malignant neoplasm of ciliary body|ciliary body cancer|malignant neoplasm of the ciliary body|malignant ciliary body tumor|tumor of the ciliary body|malignant ciliary body neoplasm|malignant tumor of ciliary body|cancer of ciliary body DOID:4352|SCTID:188263008|UMLS:C0496833|NCIT:C4766|ICD10:C69.4 owl:Class MONDO:0002658 biolink:NamedThing iris cancer A malignant neoplasm involving the iris. tmpak2llvmy_mondo_relaxed.owl malignant tumor of iris|tumor of the iris|malignant neoplasm of the iris|malignant tumor of the iris|malignant iris neoplasm|cancer of iris|iris cancer|malignant neoplasm of iris|malignant iris tumor UMLS:C0346372|NCIT:C4554|EFO:1000996|SCTID:188264002|DOID:3478 owl:Class HGNC:8788 biolink:NamedThing PDE6D tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11103 biolink:NamedThing Hepacivirus C tmpak2llvmy_mondo_relaxed.owl post-transfusion hepatitis non A non B virus|Hepatitis C virus|human hepatitis C virus|human hepatitis virus C HCV|hepatitis C virus HCV|HCV|human hepatitis C virus HCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11102 biolink:NamedThing Hepacivirus tmpak2llvmy_mondo_relaxed.owl Hepatitis C virus group|Hepatitis C-like viruses|Hepatitis C viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001075 biolink:NamedThing steatorrhea A finding of an excessive amount of fat in the stool. tmpak2llvmy_mondo_relaxed.owl steatorrhea (disease)|steatorrhea|fatty stool|fatty stool (finding) steatorrhea (disease) SCTID:27868004|MESH:D045602|DOID:10602|NCIT:C86917|HP:0002570 owl:Class MONDO:0005020 biolink:NamedThing intestinal disease A non-neoplastic or neoplastic disorder that affects the small or large intestine. tmpak2llvmy_mondo_relaxed.owl disease or disorder of intestine|disease, intestinal|intestinal disease|intestine disease or disorder|disease of intestine|diseases, intestinal|intestinal disorder|intestine disease|disorder of intestine ICD9:569.4|MESH:D007410|ICD9:564.4|DOID:5295|ICD9:520-579.99|ICD9:569.89|ICD9:570-579.99|ICD9:569.49|ICD9:564|ICD9:560-569.99|ICD9:569|SCTID:85919009|NCIT:C26801|ICD10:K63.9|ICD9:575|ICD9:569.9 owl:Class MONDO:0017611 biolink:NamedThing pituitary tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of the pituitary|neoplasm of pituitary gland|tumor of the pituitary|neoplasm of pituitary|pituitary neoplasm|tumor of pituitary gland|tumor of the pituitary gland|neoplasm of the pituitary gland|pituitary gland tumor|pituitary gland neoplasm|tumor of pituitary|pituitary tumor UMLS:C0032019|NCIT:C3330|SCTID:127024001|Orphanet:304055|ICD9:239.7 owl:Class MONDO:0006799 biolink:NamedThing hypothalamic neoplasm A primary or metastatic neoplasm that affects the hypothalamus. tmpak2llvmy_mondo_relaxed.owl neoplasm of the hypothalamus|hypothalamus neoplasm|neoplasm of hypothalamus|tumor of the hypothalamus|hypothalamic tumor|hypothalamus tumor|tumor of hypothalamus|hypothalamic neoplasms UMLS:C0020659|MESH:D007029|EFO:1000979|DOID:3644|NCIT:C3129|SCTID:254968009 owl:Class MONDO:0002501 biolink:NamedThing brain glioblastoma A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl brain glioblastoma|brain glioblastoma multiforme (disease)|glioblastoma (disease) of brain|grade IV astrocytic neoplasm of brain|glioblastoma multiforme of brain|grade IV astrocytic tumor of brain|grade IV brain astrocytic neoplasm|brain glioblastoma (disease)|glioblastoma multiforme of the brain|brain glioblastoma multiforme|grade IV astrocytic neoplasm of the brain|grade IV astrocytic tumor of the brain|grade IV brain astrocytic tumor SCTID:276828006|EFO:0006545|NCIT:C4642|UMLS:C0349543|DOID:3073 owl:Class MONDO:0018177 biolink:NamedThing glioblastoma The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl primary glioblastoma multiforme|grade IV astrocytic tumor|gliosarcoma (histologic variant)|GBM (glioblastoma)|grade IV adult astrocytic tumor|glioblastoma multiforme (disease)|glioblastoma multiforme|glioblastoma|grade IV astrocytic neoplasm|spongioblastoma multiforme|giant cell glioblastoma (histologic variant)|grade IV astrocytoma|glioblastoma (disease)|GBM|WHO grade IV glioma glioblastoma (disease) NCIT:C3058|ICD10:C71.9|HP:0012174|ONCOTREE:GBM|GARD:0002491|ONCOTREE:GB|MedDRA:10018337|SCTID:393563007|HP:0100843|MedDRA:10018336|ICDO:9440/3|UMLS:CN227279|Orphanet:360|UMLS:C0017636|UMLS:C1621958|DOID:3068 owl:Class GO:0065010 biolink:NamedThing extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. tmpak2llvmy_mondo_relaxed.owl extracellular membrane-enclosed organelle owl:Class GO:0043227 biolink:NamedThing membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl membrane-enclosed organelle owl:Class HGNC:16380 biolink:NamedThing TRIM32 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002495 biolink:NamedThing colon signet ring cell adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. tmpak2llvmy_mondo_relaxed.owl colonic signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of colon|signet Ring cell adenocarcinoma of the colon|colon signet ring adenocarcinoma|colon signet Ring cell adenocarcinoma|signet Ring cell colon adenocarcinoma|colonic signet Ring adenocarcinoma NCIT:C7967|DOID:3033|UMLS:C1707436 owl:Class MONDO:0002271 biolink:NamedThing colon adenocarcinoma A carcinoma that arises from glandular epithelial cells of the colon tmpak2llvmy_mondo_relaxed.owl COAD|adenocarcinoma of the colon|colonic adenocarcinoma|adenocarcinoma - colon|adenocarcinoma of colon|colon adenocarcinoma EFO:1001949|DOID:234|ONCOTREE:COAD|NCIT:C4349|UMLS:C0338106 owl:Class UBERON:0004337 biolink:NamedThing distal phalanx of manual digit 1 A distal phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl PDP|pollical distal phalanx|manual digit 1 distal phalanx|distal phalanx of first digit of hand|first distal phalanx of hand|thumb distal phalanx|distal phalanx of thumb|distal phalanx of manual digit I owl:Class UBERON:0003865 biolink:NamedThing distal phalanx of manus A distal phalanx that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx distalis manus|distal phalanx of hand|terminal phalanx of hand|ungual phalanx of hand|distal phalanx of finger|distal phalanx of manual digit|hand distal phalanx|distal manual phalanx owl:Class MONDO:0007284 biolink:NamedThing cataract 20 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. tmpak2llvmy_mondo_relaxed.owl CTRCT20|cataract 20, multiple types|CRYGS cataract (disease)|cataract (disease) caused by mutation in CRYGS ICD10:Q12.0|OMIM:116100|DOID:0110240 owl:Class MONDO:0011060 biolink:NamedThing early-onset non-syndromic cataract Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. tmpak2llvmy_mondo_relaxed.owl nuclear sclerosis of the lens|cataract, age-related nuclear Orphanet:91492|ICD10:Q12.0|OMIM:601371|UMLS:C1832423 Not in the OMIM series. owl:Class MONDO:0045003 biolink:NamedThing scrotal disease A disease or disorder that involves the scrotum. tmpak2llvmy_mondo_relaxed.owl scrotum disease|disease of scrotum|scrotum disease or disorder|disease or disorder of scrotum|disorder of scrotum UMLS:C0268919|SCTID:49701002 owl:Class MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. tmpak2llvmy_mondo_relaxed.owl disease|condition|disease or disorder, non-neoplastic|other disease|diseases and disorders|disorders|disorder|diseases|medical condition|disease or disorder MESH:D004194|DOID:4|NCIT:C2991|UMLS:C0012634|SCTID:64572001|Orphanet:377788|ICD9:799.9|EFO:0000408|OGMS:0000031 owl:Class UBERON:0001733 biolink:NamedThing soft palate The muscular, non-bony arch-shaped posterior portion of the palate extending from the posterior edge of the hard palate. tmpak2llvmy_mondo_relaxed.owl muscular palate|palatum molle|velum|velum palatinum owl:Class CHEBI:15365 biolink:NamedThing acetylsalicylic acid A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity. tmpak2llvmy_mondo_relaxed.owl 2-Acetoxybenzenecarboxylic acid|2-(acetyloxy)benzoic acid|Acetylsalicylate|acide 2-(acetyloxy)benzoique|Aspirin|Acetylsalicylsaeure|2-acetoxybenzoic acid|acidum acetylsalicylicum|o-acetoxybenzoic acid|Easprin|o-carboxyphenyl acetate|Azetylsalizylsaeure|acide acetylsalicylique|ASA|2-(ACETYLOXY)BENZOIC ACID|acido acetilsalicilico|O-acetylsalicylic acid|salicylic acid acetate|Acetylsalicylic acid owl:Class CHEBI:26596 biolink:NamedThing salicylates Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010512 biolink:NamedThing intellectual disability, X-linked, syndromic, bain type tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic, bain type|mental retardation, X-linked, syndromic, bain type|MRXSB OMIM:300986|UMLS:C4310814 owl:Class MONDO:0020119 biolink:NamedThing X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. tmpak2llvmy_mondo_relaxed.owl syndromic X-linked mental retardation|intellectual disability, X-linked syndromic|X-linked syndromic intellectual disability|syndromic intellectual disability, X-linked|syndromic X-linked intellectual disability|mental retardation, X-linked syndromic DOID:0060309|Orphanet:98464|OMIMPS:309510 owl:Class MONDO:0004459 biolink:NamedThing bladder hepatoid adenocarcinoma A hepatoid adenocarcinoma that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder hepatoid adenocarcinoma UMLS:C1511189|NCIT:C39838|DOID:8097 owl:Class MONDO:0002751 biolink:NamedThing bladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urinary bladder tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the urinary bladder|adenocarcinoma of urinary bladder|adenocarcinoma of bladder|bladder adenocarcinoma|blad|urinary bladder adenocarcinoma|adenocarcinoma of the bladder NCIT:C4032|DOID:3711|ONCOTREE:BLAD|UMLS:C0279682|SCTID:255110003|EFO:1000125 owl:Class MONDO:0018983 biolink:NamedThing tolosa-Hunt syndrome Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. tmpak2llvmy_mondo_relaxed.owl painful ophthalmoplegia|tolosa-Hunt syndrome|THS|tolosa Hunt syndrome|nonspecific inflammation of the cavernous sinus or superior orbital fissure UMLS:CN205421|UMLS:C0392060|GARD:0007777|MESH:D020333|NCIT:C85193|DOID:1278|SCTID:95794005|Orphanet:64686|MedDRA:10051526|ICD10:H49.8|UMLS:C0040381 https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome owl:Class MONDO:0015083 biolink:NamedThing nuclear oculomotor paralysis tmpak2llvmy_mondo_relaxed.owl Orphanet:100932 Editor note: see notes for supranuclear owl:Class MONDO:0004706 biolink:NamedThing discoid lupus erythematosus of eyelid tmpak2llvmy_mondo_relaxed.owl UMLS:C0155180|DOID:9076|ICD10:H01.12|ICD9:373.34|SCTID:79291003 owl:Class MONDO:0002137 biolink:NamedThing noninfectious dermatoses of eyelid tmpak2llvmy_mondo_relaxed.owl non-infected eyelid dermatoses DOID:1894|SCTID:111524003|ICD10:H01.1|ICD9:373.3|UMLS:C0155176 owl:Class MONDO:0012506 biolink:NamedThing arrhythmogenic right ventricular dysplasia 11 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 11|ARVD11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia type 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2|arrhythmogenic right ventricular cardiomyopathy 11|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, type 11|ARVC11 MESH:C566471|DOID:0110082|OMIM:610476|ICD10:I42.8 owl:Class MONDO:0016342 biolink:NamedThing familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. tmpak2llvmy_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated ARVD|familial isolated arrhythmogenic ventricular dysplasia|familial isolated arrhythmogenic right ventricular dysplasia|familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC UMLS:C4274968|OMIMPS:107970|ICD10:I42.8|Orphanet:217656|UMLS:CN226907|SCTID:715865008 owl:Class GO:0032812 biolink:NamedThing positive regulation of epinephrine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine. tmpak2llvmy_mondo_relaxed.owl positive regulation of adrenaline secretion|stimulation of epinephrine secretion|upregulation of epinephrine secretion|up regulation of epinephrine secretion|up-regulation of epinephrine secretion|activation of epinephrine secretion owl:Class GO:0014060 biolink:NamedThing regulation of epinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of epinephrine. tmpak2llvmy_mondo_relaxed.owl regulation of adrenaline secretion owl:Class MONDO:0018789 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy tmpak2llvmy_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy 2022-03-01 UMLS:CN776856|Orphanet:477762 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO_0018788 owl:Class MONDO:0018788 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease tmpak2llvmy_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy Orphanet:477759|UMLS:CN776854 owl:Class MONDO:0003256 biolink:NamedThing neurohypophysis granular cell tumor A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl granular cell tumor of the neurohypophysis|neurohypophysis granular cell tumor|granular cell tumor of the posterior pituitary gland|granular cell tumor of Neurohypophysis|granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of neurohypophysis NCIT:C7017|UMLS:C1333873|SCTID:699331002|ICDO:9582/0|EFO:1000285|DOID:5047 owl:Class MONDO:0003257 biolink:NamedThing posterior pituitary gland neoplasm A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. tmpak2llvmy_mondo_relaxed.owl neurohypophysis neoplasm (disease)|Neurohypophysis neoplasm|posterior pituitary neoplasm|posterior pituitary gland neoplasm|neoplasm of neurohypophysis|PITUICYTOMA, benign|neurohypophysis tumor|neurohypophysis neoplasm|posterior pituitary gland tumor|tumor of neurohypophysis|posterior pituitary tumor|Neurohypophysis tumor DOID:5048|UMLS:C1334957|NCIT:C7157 owl:Class MONDO:0001778 biolink:NamedThing dermoid cyst of skin A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. tmpak2llvmy_mondo_relaxed.owl subcutaneous dermoid cyst|cutaneous dermoid cyst|skin dermoid cyst|dermoid cyst of the skin|cystic skin teratoma|zone of skin dermoid cyst|dermoid cyst of skin|skin dermoid|dermoid cyst of skin (finding) DOID:13691|SCTID:276729007|UMLS:C0349502|NCIT:C4632 owl:Class MONDO:0002378 biolink:NamedThing dermoid cyst A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. tmpak2llvmy_mondo_relaxed.owl dermoid|benign cystic teratoma|dermoid cyst|subcutaneous cystic teratoma|teratoma, benign|mature cystic teratoma|dermoid cyst, benign|cystic dermoid choristoma|dermoid tumour|dermoid choristoma|dermoid tumor|teratoma, benign (morphologic abnormality) UMLS:C2355625|NCIT:C9011|ICDO:9084/0|DOID:2658|MESH:D003884|SCTID:441459009|UMLS:C2700593|UMLS:C0011649|EFO:1000894|ICD10:K09.8 owl:Class HGNC:11067 biolink:NamedThing SLC7A9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012669 biolink:NamedThing Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. tmpak2llvmy_mondo_relaxed.owl Legius syndrome|neurofibromatosis 1-like syndrome|neurofibromatosis type 1-like syndrome|NF1-like syndrome|neurofibromatosis type 1 like syndrome OMIM:611431|SCTID:703541007|UMLS:C1969623|MESH:C548032|GARD:0010714|ICD10:Q85.0|ICD9:709.09|Orphanet:137605 https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome owl:Class MONDO:0020297 biolink:NamedThing Noonan syndrome and Noonan-related syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C537846|Orphanet:98733|UMLS:CN166718 owl:Class MONDO:0019635 biolink:NamedThing idiopathic achalasia Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. tmpak2llvmy_mondo_relaxed.owl achalasia cardia|idiopathic achalasia of esophagus|primary achalasia UMLS:C1860213|Orphanet:930|ICD10:K22.0|UMLS:C0859976|SCTID:715192004|MedDRA:10036669|GARD:0005708 owl:Class MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. tmpak2llvmy_mondo_relaxed.owl idiopathic disorder http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3169 owl:Class MONDO:0013281 biolink:NamedThing COG4-CDG COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 2j|CDG IIj|carbohydrate deficient glycoprotein syndrome type IIj|CDG-IIj|congenital disorder of glycosylation, type IIj|COG4-CDG (CDG-IIj)|COG4-CDG|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation type IIj DOID:0070262|SCTID:718751000|UMLS:C3150736|ICD10:E77.8|GARD:0012412|Orphanet:263501|OMIM:613489 owl:Class MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex tmpak2llvmy_mondo_relaxed.owl defect in COG complex ICD10:E77.8|Orphanet:309568 owl:Class MONDO:0016334 biolink:NamedThing neuromuscular disease with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:217610|UMLS:CN201165 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neuromuscular disease' MONDO_0019056 owl:Class MONDO:0016333 biolink:NamedThing familial dilated cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. tmpak2llvmy_mondo_relaxed.owl DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hereditary dilated cardiomyopathy|hypokinetic dilated cardiomyopathy, familial MESH:C536231|UMLS:C0340427|ICD10:I42.0|GARD:0000221|GARD:0002905|Orphanet:217607|OMIMPS:115200 Editor note: unsure if GARD is familial form owl:Class GO:2000463 biolink:NamedThing positive regulation of excitatory postsynaptic potential Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpak2llvmy_mondo_relaxed.owl positive regulation of EPSP|positive regulation of excitatory post-synaptic membrane potential owl:Class GO:0050789 biolink:NamedThing regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpak2llvmy_mondo_relaxed.owl regulation of physiological process owl:Class MONDO:0005280 biolink:NamedThing prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostatitis (disease)|inflammation of prostate gland|prostate gland inflammation|prostatitis prostatitis (disease) DOID:14654|ICD9:601.8|SCTID:9713002|ICD9:601.4|ICD9:601.9|UMLS:C0033581|MESH:D011472|ICD10:N41.9|NCIT:C26866|EFO:0003830|ICD9:601|ICD10:N41|HP:0000024 owl:Class MONDO:0003105 biolink:NamedThing prostate disease A disease involving the prostate gland. tmpak2llvmy_mondo_relaxed.owl disorder of prostate gland|disease or disorder of prostate gland|prostate disease|prostate gland disease|disease of prostate gland|prostate disorder|prostate gland disease or disorder ICD10:N42.9|DOID:47|ICD9:602.8|SCTID:30281009|ICD9:602.9|NCIT:C26865|UMLS:C0033575|MESH:D011469 owl:Class UBERON:0009479 biolink:NamedThing ectoderm of buccopharyngeal membrane An ectoderm that is part of a buccopharyngeal membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000924 biolink:NamedThing ectoderm Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. tmpak2llvmy_mondo_relaxed.owl embryonic ectoderm owl:Class CL:1001572 biolink:NamedThing colon endothelial cell A vascular endothelial cell found in colon blood vessels. tmpak2llvmy_mondo_relaxed.owl colonic endothelial cell|colon endothelial cells CALOHA:TS-2397 owl:Class CL:0011108 biolink:NamedThing colon epithelial cell Epithelial cell that is part of the colon epithelium. tmpak2llvmy_mondo_relaxed.owl colonic epithelial cell owl:Class MONDO:0015659 biolink:NamedThing infectious disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200068|Orphanet:166490 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class MONDO:0005027 biolink:NamedThing epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. tmpak2llvmy_mondo_relaxed.owl seizure disorder|epilepsy DOID:1826|NCIT:C3020|MESH:D004827|ICD9:345|ICD10:G40|SCTID:84757009|ICD9:345.80|EFO:0000474|ICD9:345.9|ICD9:345.91|ICD9:345.8|ICD10:G40.909|NIFSTD:birnlex_12718|ICD9:345.90|ICD10:G40.9 owl:Class MONDO:0020341 biolink:NamedThing periventricular nodular heterotopia Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. tmpak2llvmy_mondo_relaxed.owl periventricular heterotopia|periventricular nodular heterotopia Orphanet:98892|OMIMPS:300049|DOID:0050454|MedDRA:10066854|ICD10:Q04.8|GARD:0012724|UMLS:C1868720|MESH:D054091 owl:Class MONDO:0036511 biolink:NamedThing childhood malignant kidney neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. tmpak2llvmy_mondo_relaxed.owl childhood kidney cancer|childhood malignant kidney tumor|kidney cancer of childhood|childhood malignant kidney neoplasm|pediatric kidney cancer|childhood malignant renal neoplasm|childhood malignant renal tumor UMLS:C4086162|NCIT:C123907 owl:Class MONDO:0006517 biolink:NamedThing childhood malignant neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). tmpak2llvmy_mondo_relaxed.owl malignant pediatric tumor|malignant childhood tumor|childhood neoplasm, malignant|malignant neoplasm|malignant pediatric neoplasm|childhood cancer|childhood malignant neoplasm|pediatric cancer|malignant childhood neoplasm NCIT:C4005|EFO:1000654|UMLS:C0278704 owl:Class MONDO:0008114 biolink:NamedThing obsessive-compulsive disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. tmpak2llvmy_mondo_relaxed.owl OCD|Anancastic neurosis|obsessive-compulsive disorder|obsessive compulsive disorder ICD9:300.3|OMIM:164230|DOID:10933|MESH:D009771|ICD10:F42|NCIT:C88411|SCTID:191736004|EFO:0004242 owl:Class MONDO:0014270 biolink:NamedThing STT3A-CDG STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type Iw|congenital disorder of glycosylation type 1w|CDG-Iw|CDG1W|CDG syndrome type Iw|CDG Iw|STT3A-CDG|congenital disorder of glycosylation, type Iw ICD10:E77.8|SCTID:733111000|OMIM:615596|UMLS:C3810062|Orphanet:370921|DOID:0080572 owl:Class MONDO:0018284 biolink:NamedThing congenital disorder of glycosylation with neurological involvement tmpak2llvmy_mondo_relaxed.owl CDG with neurological involvement 2022-03-01 ICD10:E77.8|Orphanet:371047 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:589905 owl:Class MONDO:0016565 biolink:NamedThing syndromic genetic obesity tmpak2llvmy_mondo_relaxed.owl syndrome associated with obesity (disease)|syndromic obesity (disease) Orphanet:240371|UMLS:CN226963 owl:Class MONDO:0001424 biolink:NamedThing sarcoid meningitis Meningitis that arises from sarcoidosis. tmpak2llvmy_mondo_relaxed.owl meningitis in sarcoidosis SCTID:192673008|ICD10:D86.81|ICD9:321.4|UMLS:C0154648|DOID:12055 Editor note: consider obsoleting as represents a finding not a disease owl:Class MONDO:0024891 biolink:NamedThing non-infectious meningitis tmpak2llvmy_mondo_relaxed.owl non-infective meningitis UMLS:C0393442|SCTID:230155003 owl:Class MONDO:0020697 biolink:NamedThing lung epithelial-myoepithelial carcinoma A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. tmpak2llvmy_mondo_relaxed.owl lung epithelial-myoepithelial cancer|lung epithelial-myoepithelial carcinoma NCIT:C45545 owl:Class MONDO:0005138 biolink:NamedThing lung carcinoma A carcinoma that arises from epithelial cells of the lung tmpak2llvmy_mondo_relaxed.owl cancer of lung|cancer of the lung|carcinoma of lung|lung cancer, NOS|lung cancer|carcinoma of the lung|lung carcinoma EFO:0001071|ICD10:C34.90|DOID:3905|NCIT:C4878|UMLS:C0684249 owl:Class CL:1000286 biolink:NamedThing smooth muscle cell of rectum A smooth muscle cell that is part of the rectum. tmpak2llvmy_mondo_relaxed.owl smooth muscle fiber of rectum|non-striated muscle fiber of rectum FMA:17522 cell owl:Class CL:0002504 biolink:NamedThing enteric smooth muscle cell A smooth muscle cell of the intestine. tmpak2llvmy_mondo_relaxed.owl intestinal smooth muscle cell tmeehan 2011-01-17T03:39:38Z cell owl:Class CL:0000652 biolink:NamedThing pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. tmpak2llvmy_mondo_relaxed.owl FMA:83417|BTO:0001068 cell owl:Class CL:0000710 biolink:NamedThing neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. tmpak2llvmy_mondo_relaxed.owl neuroepithelial cell BTO:0004301|FMA:70557 The term "neuroepithelial cell" is used to describe both this cell type and sensory epithelial cell (CL:0000098). cell owl:Class MONDO:0016321 biolink:NamedThing pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). tmpak2llvmy_mondo_relaxed.owl infantile cellular interstitial pneumonitis|pig ICD10:J84.842|Orphanet:217557|ICD10:P22.8|SCTID:707551007|UMLS:C3161106 owl:Class MONDO:0017019 biolink:NamedThing interstitial lung disease specific to infancy tmpak2llvmy_mondo_relaxed.owl ILD specific to infancy UMLS:CN202332|Orphanet:264694 owl:Class MONDO:0010787 biolink:NamedThing Kearns-Sayre syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. tmpak2llvmy_mondo_relaxed.owl ophthalmoplegia plus syndrome|Kearns-Sayre syndrome|oculocraniosomatic syndrome|ophthalmoplegia-plus syndrome|CPEO with ragged-Red fibers|mitochondrial Cytopathy|KSS|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged-Red fibers|chronic progressive external ophthalmoplegia with myopathy|CPEO with ragged red fibers|ophthalmoplegia, progressive external, with ragged red fibers MedDRA:10048804|OMIM:530000|MESH:D007625|Orphanet:480|DOID:12934|ICD10:H49.8|GARD:0006817|SCTID:25792000|UMLS:C0022541|NCIT:C84798|ICD10:H49.81 https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome owl:Class MONDO:0016402 biolink:NamedThing mitochondrial disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201331|Orphanet:225700 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class MONDO:0024340 biolink:NamedThing retinal neuroblastoma A neuroblastoma arising from the retina. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of the retina|neuroblastoma of retina|retinal neuroblastoma|retina neuroblastoma NCIT:C6956 owl:Class MONDO:0021231 biolink:NamedThing retina neoplasm A neoplasm (disease) that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina neoplasm (disease)|neoplasm of the retina|retina tumor|retinal neoplasm|neoplasm of retina|retinal tumor|tumor of retina|tumor of the retina EFO:1000509|NCIT:C4800 owl:Class MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl myelodysplastic syndrome with isolated del(5q)|5q deletion syndrome|chromosome 5q deletion syndrome|5Q- syndrome|MAR|megakaryocytes, unilobular nucleated|5q syndrome|macrocytic Anemia, refractory, due to 5Q deletion|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|refractory macrocytic anemia due to 5q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5Q minus syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|5q- syndrome|myelodysplastic syndrome with 5q deletion GARD:0008723|UMLS:CN206233|OMIM:153550|ICD10:D46.7|NCIT:C6867|Orphanet:86841|DOID:0090016|MESH:C535323|ICDO:9986/3|SCTID:277597005 owl:Class MONDO:0016904 biolink:NamedThing partial deletion of the long arm of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial deletion of the long arm of chromosome type 5|partial deletion of chromosome 5q Orphanet:262038|ICD10:Q93.5 owl:Class MONDO:0010150 biolink:NamedThing head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. tmpak2llvmy_mondo_relaxed.owl craniocervical region squamous cell carcinoma|HNSCC|SCCHN|squamous cell carcinoma, head and neck|squamous cell carcinoma of the head and neck|head and neck squamous cell carcinoma|carcinoma of the head and neck|squamous cell carcinomas of head and neck|squamous cell carcinoma of head and neck DOID:5520|Orphanet:67037|UMLS:C1168401|ONCOTREE:HNSC|NCIT:C34447|SCTID:716659002|MedDRA:10060121|MESH:C535575|OMIM:275355|EFO:0000181 owl:Class MONDO:0013089 biolink:NamedThing schizophrenia 13 A schizophrenia that has material basis in a mutation on chromosome 15q13. tmpak2llvmy_mondo_relaxed.owl schizophrenia, Neurophysiologic defect 1N|schizophrenia 13|SCZD13|schizophrenia susceptibility locus, chromosome 15Q13-q14-related UMLS:C2751663|OMIM:613025|DOID:0070089 owl:Class MONDO:0005090 biolink:NamedThing schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. tmpak2llvmy_mondo_relaxed.owl schizophrenia|schizoaffective disorder|schizophrenia (disease)|SCZD|schizophrenia-1|schizophrenia with or without an affective disorder schizophrenia (disease) EFO:0000692|SCTID:58214004|ICD9:295|NIFSTD:birnlex_2104|NCIT:C3362|ICD9:295.90|OMIM:181500|DOID:5419|ICD9:295.9|HP:0100753|ICD9:295.85|ICD9:295.80|ICD9:295.8 owl:Class CHEBI:23123 biolink:NamedThing chloroacetate A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. tmpak2llvmy_mondo_relaxed.owl monochloroacetate anion|chloroacetate|Chloroacetic acid ion(1-)|chloroacetate(1-)|mono-chloroacetate|monochloroacetic acid anion|chloroacetate anion owl:Class CHEBI:85638 biolink:NamedThing haloacetate(1-) A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. tmpak2llvmy_mondo_relaxed.owl a haloacetate|haloacetate (1-) owl:Class MONDO:0015617 biolink:NamedThing genetic gastro-esophageal disease tmpak2llvmy_mondo_relaxed.owl Orphanet:165658|UMLS:CN199993 owl:Class MONDO:0015111 biolink:NamedThing gastroesophageal disease tmpak2llvmy_mondo_relaxed.owl Orphanet:101936|UMLS:CN197468 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0021283 biolink:NamedThing malignant teratoma of mediastinum A malignant teratoma that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl malignant teratoma of the mediastinum|mediastinal immature malignant teratoma|immature malignant teratoma of the mediastinum|immature malignant teratoma of mediastinum|malignant mediastinal teratoma|mediastinum malignant teratoma UMLS:C0349663|NCIT:C4668|SCTID:278042005 owl:Class MONDO:0003514 biolink:NamedThing malignant teratoma A malignant form of teratoma. tmpak2llvmy_mondo_relaxed.owl malignant extragonadal teratoma|teratoma, malignant DOID:5563|NCIT:C4287 owl:Class MONDO:0016335 biolink:NamedThing mitochondrial disease with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201166|Orphanet:217613 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class GO:0045620 biolink:NamedThing negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of lymphocyte differentiation|down regulation of lymphocyte differentiation|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|negative regulation of lymphocyte development owl:Class GO:0045619 biolink:NamedThing regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of lymphocyte development owl:Class MONDO:0032873 biolink:NamedThing retinitis pigmentosa 87 with choroidal involvement tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT|RP87 OMIM:618697 owl:Class MONDO:0100452 biolink:NamedThing dominant RPE65 retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 87 with choroidal involvement|RP87|dominant RPE65 retinopathy http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class UBERON:0005038 biolink:NamedThing mucosa of segmental bronchus A mucosa that is part of a segmental bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of segmental bronchus|tertiary bronchus mucosa|tertiary bronchus mucous membrane|segmental bronchus mucous membrane|organ mucosa of segmental bronchus|mucosa of tertiary bronchus|segmental bronchus organ mucosa|segmental bronchus mucosa|tertiary bronchus mucosa of organ|tertiary bronchus organ mucosa|mucous membrane of tertiary bronchus|organ mucosa of tertiary bronchus|mucosa of organ of segmental bronchus|segmental bronchus mucosa of organ|segmental bronchial mucosa|mucosa of organ of tertiary bronchus owl:Class UBERON:0000410 biolink:NamedThing bronchial mucosa A mucosa that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchi mucosa|tunica mucosa bronchi|bronchus organ mucosa|bronchial trunk mucosa|organ mucosa of bronchus|organ mucosa of bronchi|bronchi organ mucosa|bronchial trunk organ mucosa|bronchial trunk mucous membrane|mucosa of bronchi|bronchus mucosa of organ|mucosa of bronchus|mucosa of bronchial trunk|mucous membrane of bronchi|organ mucosa of bronchial trunk|mucosa of organ of bronchi|bronchi mucous membrane|bronchus mucosa|bronchus mucous membrane|mucosa of organ of bronchus|bronchial trunk mucosa of organ|mucous membrane of bronchus|mucosa of organ of bronchial trunk|bronchi mucosa of organ|mucous membrane of bronchial trunk owl:Class CHEBI:35604 biolink:NamedThing carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. tmpak2llvmy_mondo_relaxed.owl oxocarbon anions|carbon oxoanions|carbon oxoanion|oxocarbon anion owl:Class CHEBI:35406 biolink:NamedThing oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. tmpak2llvmy_mondo_relaxed.owl oxoacid anions|oxoanions|oxoanion owl:Class UBERON:0003575 biolink:NamedThing wrist connective tissue A portion of connective tissue that is part of a wrist [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl carpal region connective tissue|connective tissue of carpal region|connective tissue of wrist owl:Class UBERON:0003598 biolink:NamedThing manus connective tissue A portion of connective tissue that is part of a hand [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand connective tissue|connective tissue of terminal segment of free upper limb|connective tissue of hand owl:Class UBERON:0012489 biolink:NamedThing muscle layer of colon A muscular coat that is part of a colon. tmpak2llvmy_mondo_relaxed.owl tunica muscularis coli|muscularis externa of colon|colon muscularis|muscular layer of colon|muscular coat of colon|colonic muscularis propria owl:Class UBERON:0011198 biolink:NamedThing muscle layer of large intestine A muscle layer that is part of a large intestine. tmpak2llvmy_mondo_relaxed.owl muscular layer of large intestine|muscular coat of large intestine|tunica muscularis intestini crassi|muscularis externa of large intestine owl:Class HGNC:24316 biolink:NamedThing TACO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021446 biolink:NamedThing benign neoplasm of epiglottis A benign neoplasm that involves the epiglottis. tmpak2llvmy_mondo_relaxed.owl benign tumor of the Epiglottis|epiglottis benign neoplasm|benign neoplasm of the Epiglottis|benign Epiglottis tumor|benign epiglottic neoplasm|benign Epiglottis neoplasm|benign tumor of Epiglottis|benign epiglottic tumor SCTID:92089006|UMLS:C0347236|NCIT:C4606 owl:Class MONDO:0005165 biolink:NamedThing benign neoplasm A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl cell type benign neoplasm|benign neoplasm|neoplasm (disease), benign|benign unclassifiable tumor|benign tumor|neoplasm, benign|benign neoplasm (disease)|organ system benign neoplasm EFO:0002422|ICD9:210-229.99|ICD9:229.9|DOID:0060084|NCIT:C3677|ICDO:8000/0|ICD10:D10.D36|SCTID:20376005|ICD9:229.8|DOID:0060072|DOID:0060085 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 owl:Class UBERON:0007213 biolink:NamedThing mesenchyme derived from head neural crest Mesenchyme that develops_from a cranial neural crest. tmpak2llvmy_mondo_relaxed.owl head neural crest derived mesenchyme|head mesenchyme from cranial neural crest|head mesenchyme from neural crest owl:Class UBERON:0014387 biolink:NamedThing mesenchyme derived from neural crest Mesenchyme that develops_from the neural crest[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neural crest derived mesenchyme|neural crest mesenchyme|mesenchyme from neural crest owl:Class GO:0005244 biolink:NamedThing voltage-gated ion channel activity Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpak2llvmy_mondo_relaxed.owl voltage-dependent ion channel activity|voltage gated ion channel activity owl:Class GO:0015075 biolink:NamedThing ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl ion transporter activity owl:Class MONDO:0002387 biolink:NamedThing liver angiosarcoma A malignant vascular neoplasm arising from the liver. tmpak2llvmy_mondo_relaxed.owl hepatic hemangiosarcoma|liver angiosarcoma (disease)|hemangiosarcoma of the liver|primary angiosarcoma of liver|Lias|hemangiosarcoma of liver|hepatic angiosarcoma|angiosarcoma (disease) of liver|liver angiosarcoma|primary angiosarcoma of the liver|angiosarcoma of the liver|liver hemangiosarcoma|angiosarcoma of liver ICDO:9124/3|NCIT:C4438|ICD10:C22.3|SCTID:109844006|GARD:0005813|ONCOTREE:LIAS|UMLS:C0345907|DOID:268 https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver owl:Class MONDO:0002405 biolink:NamedThing hepatic vascular disease A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl vascular disorder of liver|liver vascular disorder|hepatic vascular disorder ICD9:573.8|SCTID:235878005|NCIT:C35442|DOID:272|UMLS:C0400923 owl:Class MONDO:0001155 biolink:NamedThing gastrojejunal ulcer tmpak2llvmy_mondo_relaxed.owl acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without hemorrhage and without perforation UMLS:C0156042|UMLS:C0156050|UMLS:C0156048|UMLS:C0156047|SCTID:4269005|ICD9:534.0|UMLS:C0156044|UMLS:C0156045|ICD10:K28.0|DOID:10927 owl:Class MONDO:0004247 biolink:NamedThing peptic ulcer disease A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. tmpak2llvmy_mondo_relaxed.owl acute peptic ulcer with hemorrhage|acute peptic ulcer with hemorrhage and perforation|peptic ulcer|acute peptic ulcer without hemorrhage and without perforation UMLS:C0030920|MESH:D010437|ICD9:533|SCTID:13200003|DOID:750|NCIT:C3318|ICD10:K27 owl:Class HGNC:6553 biolink:NamedThing LEP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021158 biolink:NamedThing gonococcal epididymo-orchitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0341782|SCTID:236772009 owl:Class MONDO:0004277 biolink:NamedThing gonorrhea A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. tmpak2llvmy_mondo_relaxed.owl papular acrodermatitis of childhood|infections, Neisseria gonorrhoeae|Gianotti Crosti syndrome|GC|acrodermatitis, infantile lichenoid|PAC|acrodermatitis, papular infantile|chronic gonococcal infectious disease of lower genitourinary tract|Neisseria gonorrhoeae infection|chronic gonococcal infectious disease of upper genitourinary tract|Crosti-gianotti syndrome|PAS ICD9:098.89|GARD:0006499|ICD10:A54.9|MESH:D006069|ICD9:098.32|ICD10:A54|ICD9:098|SCTID:15628003|NCIT:C92950|ICD9:098.2|DOID:7551|UMLS:C0018081 owl:Class UBERON:0005085 biolink:NamedThing ectodermal placode An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] tmpak2llvmy_mondo_relaxed.owl epithelial placode owl:Class UBERON:0001048 biolink:NamedThing primordium Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. tmpak2llvmy_mondo_relaxed.owl primordia|placode|rudiment|future organ|bud owl:Class MONDO:0008433 biolink:NamedThing small cell lung carcinoma Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. tmpak2llvmy_mondo_relaxed.owl small cell neuroendocrine carcinoma of lung|SCLC1|oat cell carcinoma (morphologic abnormality)|lung small cell carcinoma|small cell carcinoma of the lung|oat cell carcinoma of lung|oat cell carcinoma|small cell cancer of the lung|lung oat cell carcinoma|oat cell carcinoma of the lung|small cell carcinoma of lung|SCLC|poorly differentiated endocrine neoplasm|small cell neuroendocrine carcinoma of the lung|lung small cell neuroendocrine carcinoma|oat cell lung carcinoma|small cell lung cancer EFO:0000702|NCIT:C4917|OMIM:182280|DOID:5411|UMLS:C0262584|ICD9:162.9|ONCOTREE:SCLC|ICD10:C34.9|SCTID:254632001|MESH:D055752|DOID:5409|UMLS:CN244903|Orphanet:70573|KEGG:05222 owl:Class MONDO:0036781 biolink:NamedThing benign axillary neoplasm A non-metastasizing neoplasm that arises from the structures of the axilla. tmpak2llvmy_mondo_relaxed.owl axillary neoplasm, benign|benign axillary neoplasm NCIT:C35750|UMLS:C0684828 owl:Class MONDO:0000634 biolink:NamedThing thoracic benign neoplasm A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the thorax|thoracic segment of trunk benign neoplasm|benign thoracic tumor|benign tumor of thorax|benign tumor of the thorax|benign neoplasm of thorax|benign thoracic neoplasm SCTID:255059002|ICD9:229.8|UMLS:C0346440|DOID:0060097|NCIT:C4565 MONDO:0021448 owl:Class MONDO:0014057 biolink:NamedThing maple syrup urine disease, mild variant tmpak2llvmy_mondo_relaxed.owl maple syrup urine disease, mild variant|MSUDMV UMLS:C3554575|OMIM:615135 owl:Class MONDO:0017052 biolink:NamedThing intermediate maple syrup urine disease Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. tmpak2llvmy_mondo_relaxed.owl Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|Intermediate BCKD deficiency|intermediate maple syrup urine disease|Intermediate MSUD ICD10:E71.0|SCTID:405287008|Orphanet:268162 owl:Class MONDO:0006355 biolink:NamedThing parotid gland acinic cell carcinoma An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. tmpak2llvmy_mondo_relaxed.owl acinic cell carcinoma of parotid|acinic cell carcinoma of the parotid|acinic cell carcinoma of the parotid gland|parotid gland acinar cell carcinoma|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid gland|parotid acinic cell carcinoma UMLS:C1335353|EFO:1000458|NCIT:C5933 owl:Class MONDO:0021331 biolink:NamedThing carcinoma of parotid gland A carcinoma that involves the parotid gland. tmpak2llvmy_mondo_relaxed.owl parotid gland cancer|carcinoma of the parotid|parotid carcinoma|parotid gland carcinoma|carcinoma of parotid|carcinoma of parotid gland|carcinoma of the parotid gland EFO:1000460|UMLS:C0345602|NCIT:C6791|SCTID:254462001 owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. tmpak2llvmy_mondo_relaxed.owl Minor feet anomalies UMLS:C4020946 doelkens 2011-11-30T11:23:05Z HP:0010613 human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023402 peter 2012-03-01T02:39:14Z human_phenotype owl:Class MONDO:0003767 biolink:NamedThing mitral valve disease A disease involving the mitral valve. tmpak2llvmy_mondo_relaxed.owl chronic rheumatic mitral valve|rheumatic disease of mitral valve|disorder of mitral valve|disease of mitral valve|rheumatic mitral valve changes|rheumatic mitral valve incompetence|mitral RH valve dis.|mitral valve disease or disorder|mitral valve disease|disease or disorder of mitral valve|rheumatic mitral insufficiency|mitral valve disorder|rheumatic mitral valve regurgitation ICD9:394.9|ICD9:394|ICD10:I05.9|ICD10:I05|UMLS:C0026265|ICD10:I05.1|ICD9:424.0|NCIT:C78446|SCTID:11851006|ICD9:394.1|DOID:61|UMLS:C2939153 owl:Class FOODON:03304511 biolink:NamedThing seafood newburg (dish) tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F4511 SIREN DB annotation: * has quality 'semiliquid with solid pieces' (http://purl.obolibrary.org/obo/FOODON_03430110) * has quality 'fully heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440014) * derives from 'skeletal meat part, without bone or shell' (http://purl.obolibrary.org/obo/FOODON_03420125) * formed as a result of 'alcoholated' (http://purl.obolibrary.org/obo/FOODON_03460160) * has substance added 'spice or herb added' (http://purl.obolibrary.org/obo/FOODON_03460151) * has substance added http://purl.obolibrary.org/obo/FOODON_03460185 * has substance added 'dairy product added' (http://purl.obolibrary.org/obo/FOODON_03460242) * immersed in 'packed in gravy or sauce' (http://purl.obolibrary.org/obo/FOODON_03480034) http://langual.org subset_siren owl:Class FOODON:00002471 biolink:NamedThing prepared seafood product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004572 biolink:NamedThing cyclothymic disorder An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. tmpak2llvmy_mondo_relaxed.owl cyclothymia|cycloid personality|affective personality disorder|cyclothymic personality SCTID:76105009|ICD9:301.1|ICD9:301.13|MESH:D003527|ICD9:301.10|DOID:845|ICD10:F34.0 owl:Class MONDO:0005371 biolink:NamedThing mood disorder A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. tmpak2llvmy_mondo_relaxed.owl episodic mood disorder ICD9:296.99|UMLS:CN236678|ICD10:F39|SCTID:46206005|MESH:D019964|ICD10:F30-F39|EFO:0004247|DOID:3324|NCIT:C92200|ICD10:F30.F39 owl:Class MONDO:0013547 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3 DOID:0060332|ICD10:E88.8|OMIM:614053|UMLS:C3279708 owl:Class MONDO:0000066 biolink:NamedThing mitochondrial complex deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005629 biolink:NamedThing Acanthamoeba keratitis Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. tmpak2llvmy_mondo_relaxed.owl keratitis, Acanthamoeba|Acanthamoeba caused keratitis SCTID:231896005|NCIT:C50450|GARD:0009285|ICD10:H19.2*|UMLS:C0000880|ICD9:370.8|ICD10:B60.1+|MedDRA:10069408|EFO:0007126|MESH:D015823|Orphanet:67043 https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis owl:Class MONDO:0002428 biolink:NamedThing protozoa infectious disease An infection that is caused by protozoans. tmpak2llvmy_mondo_relaxed.owl sarcomastigophora infectious disease|Mastigophora infectious disease|protozoal infection|parasitic protozoa infectious disease MESH:D011528|NCIT:C34953|ICD10:B64|DOID:2789|ICD10:B50-B64 owl:Class UBERON:8400021 biolink:NamedThing liver serosa Hepatic serous coat; peritoneal covering of the liver, enclosing almost all except for a triangular area on its posterior surface (the "bare area of the liver") and a smaller area where the liver and gallbladder are in direct contact. tmpak2llvmy_mondo_relaxed.owl tunica serosa hepatis|serosa of liver owl:Class UBERON:0000077 biolink:NamedThing mixed endoderm/mesoderm-derived structure An anatomical structure that develops from the endoderm and the mesoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002367 biolink:NamedThing prostate gland The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. tmpak2llvmy_mondo_relaxed.owl prostata|male prostate|prostate owl:Class MONDO:0023597 biolink:NamedThing laryngeal papillomatosis Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. tmpak2llvmy_mondo_relaxed.owl Warts in the throat|recurrent laryngeal papillomatosis|juvenile laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis (subtype)|juvenile laryngeal papillomatosis|laryngeal papillomatosis UMLS:C0396072|SCTID:232457008|MESH:C537876|GARD:0006864 Editor note: compare with MONDO:0000935 https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis owl:Class MONDO:0018955 biolink:NamedThing recurrent respiratory papillomatosis Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. tmpak2llvmy_mondo_relaxed.owl juvenile-onset recurrent respiratory papillomatosis (type)|adult-onset recurrent respiratory papillomatosis (type)|RRP|juvenile laryngeal papilloma|AORRP (type)|JORRP (type)|respiratory papillomatosis, recurrent|recurrent respiratory papillomatosis|laryngeal papilloma, recurrent SCTID:472827002|GARD:0000111|MESH:C535297|NCIT:C128637|UMLS:C1168198|Orphanet:60032|ICD9:078.19|MedDRA:10059314 https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis owl:Class MONDO:0009931 biolink:NamedThing pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. tmpak2llvmy_mondo_relaxed.owl pulmonary valve atresia with intact ventricular septum|pulmonary atresia with intact ventricular septum ICD10:Q22.6|OMIM:265150|NCIT:C99032|UMLS:C0344975|SCTID:253590009|GARD:0004600|MESH:C562832|Orphanet:1208 owl:Class MONDO:0020291 biolink:NamedThing hypoplastic right heart syndrome Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. tmpak2llvmy_mondo_relaxed.owl right hypoplastic heart syndrome SCTID:268180007|MedDRA:10064962|DOID:0070315|Orphanet:98723|MedDRA:10050053|ICD10:Q22.6|ICD9:746.89|NCIT:C99053|UMLS:C0344963|GARD:0002922 https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome owl:Class MONDO:0011583 biolink:NamedThing cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. tmpak2llvmy_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related|cerebral amyloid angiopathy, APP-related, Flemish variant|cerebral amyloid angiopathy, APP-related, Italian variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant|APP-related cerebral amyloid angiopathy|amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related, Dutch variant|HCHWAD OMIM:605714|DOID:0070028|UMLS:C3888308|UMLS:C2751536|UMLS:C2751494|UMLS:C3888309|UMLS:C3888307 owl:Class MONDO:0005620 biolink:NamedThing cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. tmpak2llvmy_mondo_relaxed.owl dutch hereditary cerebral amyloid angiopathy|hereditary cerebral haemorrhage with amyloidosis - Dutch type|CAA, familial|cerebral amyloid angiopathy, familial|HCHWA|cerebral amyloid angiopathy, genetic DOID:9246|SCTID:230724001|ICD10:E85.4+|EFO:0006790|MESH:D016657|ICD9:277.39|GARD:0010266|ICD10:I68.0*|NCIT:C84625|ICD10:I68.0|Orphanet:85458 owl:Class MONDO:0013462 biolink:NamedThing fucosyltransferase 6 deficiency tmpak2llvmy_mondo_relaxed.owl fucosyltransferase 6 deficiency UMLS:C3151219|OMIM:613852 owl:Class MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. tmpak2llvmy_mondo_relaxed.owl hereditary diseases|hereditary disease or disorder|familial disorder|hereditary disease|inherited disease|inherited genetic disease|inborn disorder|molecular disease|genetic condition|genetic disease|genetic disorder NCIT:C3101|EFO:0000508|UMLS:C0019247|DOID:630|ICD9:799.89|MESH:D030342|SCTID:32895009 Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. owl:Class BFO:0000141 biolink:NamedThing immaterial entity tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000004 biolink:NamedThing independent continuant A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. tmpak2llvmy_mondo_relaxed.owl IndependentContinuant ic an organism|the bottom right portion of a human torso|a spatial region|a molecule|a heart|an atom|the interior of your mouth|a chair|an orchestra.|a leg (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] |(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] |(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])|For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) owl:Class MONDO:0010060 biolink:NamedThing infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. tmpak2llvmy_mondo_relaxed.owl autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|SCA8 (formerly)|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia 8, formerly|spinocerebellar ataxia, infantile-onset|mitochondrial DNA depletion syndrome 7|IOSCA|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|OHAHA syndrome|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|spinocerebellar ataxia infantile with sensory neuropathy|Ohaha syndrome|mitochondrial DNA depletion syndrome type 7|spinocerebellar ataxia 8 (formerly)|MTDPS7 SCTID:724227000|Orphanet:1186|DOID:0080126|ICD10:G11.1|UMLS:C1849096|DOID:0050556|OMIM:271245|GARD:0004062|MESH:C535523 Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5 owl:Class MONDO:0020046 biolink:NamedThing autosomal recessive degenerative and progressive cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl Orphanet:98098|UMLS:CN229259 owl:Class GO:0033273 biolink:NamedThing response to vitamin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007584 biolink:NamedThing response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpak2llvmy_mondo_relaxed.owl response to nutrients|nutritional response pathway owl:Class MONDO:0018184 biolink:NamedThing gastric linitis plastica Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl linitis plastica of the stomach|Borrmann gastric cancer type 4 ICD10:C16.9|UMLS:CN204677|Orphanet:36273|SCTID:721629005 owl:Class MONDO:0005017 biolink:NamedThing diffuse gastric adenocarcinoma An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. tmpak2llvmy_mondo_relaxed.owl carcinoma, diffuse type (morphologic abnormality)|gastric diffuse adenocarcinoma|carcinoma, diffuse type|diffuse type stomach adenocarcinoma|diffuse stomach adenocarcinoma|adenocarcinoma of the linitis plastica type|diffuse gastric adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse adenocarcinoma of stomach|adenocarcinoma of linitis plastica type|stomach diffuse type adenocarcinoma ONCOTREE:DSTAD|NCIT:C9159|EFO:0000402|DOID:6217 owl:Class MONDO:0014172 biolink:NamedThing spermatogenic failure 12 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. tmpak2llvmy_mondo_relaxed.owl azoospermia caused by mutation in NANOS1|NANOS1 azoospermia|SPGF12|spermatogenic failure type 12|spermatogenic failure 12 OMIM:615413|UMLS:C3809427|DOID:0070171 owl:Class MONDO:0018393 biolink:NamedThing male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. tmpak2llvmy_mondo_relaxed.owl UMLS:CN225947|ICD10:N46|Orphanet:399805 owl:Class MONDO:0011767 biolink:NamedThing autosomal recessive nonsyndromic deafness 31 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. tmpak2llvmy_mondo_relaxed.owl WHRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 31|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness 31|whirler, mouse, homolog of|deafness, autosomal recessive 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|autosomal recessive nonsyndromic deafness type 31|DFNB31 UMLS:C1846839|ICD10:H90.3|OMIM:607084|MESH:C564629|DOID:0110490 owl:Class MONDO:0019588 biolink:NamedThing deafness, autosomal recessive Autosomal recessive form of nonsyndromic deafness. tmpak2llvmy_mondo_relaxed.owl nonsyndromic deafness, autosomal recessive|nonsyndromic genetic deafness, autosomal recessive|autosomal recessive nonsyndromic deafness|autosomal recessive isolated neurosensory deafness type DFNB|deafness, autosomal recessive|autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive nonsyndromic genetic deafness|autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN OMIM:607197|Orphanet:90636|ICD10:H90.3|GARD:0001710|UMLS:C1846647|OMIMPS:220290|MESH:C564609|UMLS:CN206424|DOID:0050565 owl:Class MONDO:0009124 biolink:NamedThing Dubowitz syndrome Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. tmpak2llvmy_mondo_relaxed.owl intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|Dubowitz's syndrome|dwarfism-eczema-peculiar facies syndrome|intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci ICD9:742.8|OMIM:223370|UMLS:C0175691|NCIT:C125591|GARD:0006290|DOID:14796|MedDRA:10059589|MESH:C535718|Orphanet:235|SCTID:2593002|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome owl:Class MONDO:0015329 biolink:NamedThing malformation syndrome with short stature tmpak2llvmy_mondo_relaxed.owl congenital malformation syndrome associated with short stature|congenital malformation syndrome and short stature|malformation syndrome associated with short stature 2022-03-01 Orphanet:139021|UMLS:CN199359|SCTID:205808005 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0009984 biolink:NamedThing late-adult onset retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa|retinitis pigmentosa, 'Senile' ICD10:H35.5|MESH:C564840|OMIM:268025|UMLS:C1849400|DOID:0110421 owl:Class MONDO:0019200 biolink:NamedThing retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa|pericentral pigmentary retinopathy|Rod-cone dystrophy ICD10:H35.52|MESH:D012174|UMLS:C0035334|MedDRA:10038914|OMIMPS:268000|DOID:10584|GARD:0005694|NCIT:C85045|ICD10:H35.5|Orphanet:791|OMIM:268000|SCTID:28835009|UMLS:C4072872 owl:Class OBO:CHR_9606-chr4p1 biolink:NamedThing chr4p1 (Human) tmpak2llvmy_mondo_relaxed.owl 50000000 0 hg38 owl:Class GO:0098687 biolink:NamedThing chromosomal region Any subdivision of a chromosome along its length. tmpak2llvmy_mondo_relaxed.owl chromosome region owl:Class MONDO:0054726 biolink:NamedThing spermatogenic failure 22 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 22|SPGF22 OMIM:617706|DOID:0070177 owl:Class MONDO:0004983 biolink:NamedThing azoospermia Complete absence of spermatozoa in the semen. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure ICD10:N46.0|OMIMPS:258150|DOID:14227|EFO:0000279|SCTID:425558002|ICD9:606.0|UMLS:C0004509|MESH:D053713|ICD10:N46.01 owl:Class UBERON:0007376 biolink:NamedThing outer epithelium The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. tmpak2llvmy_mondo_relaxed.owl outer epidermal layer|hypodermis|epidermis|hypoderm|epidermis (sensu Metazoa)|outer epithelial layer owl:Class UBERON:0000483 biolink:NamedThing epithelium Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue|portion of epithelium owl:Class NCBITaxon:1637 biolink:NamedThing Listeria tmpak2llvmy_mondo_relaxed.owl Listerella PMID:10408878|PMID:1899799|PMID:8427807|PMID:9542083|PMID:1713054|PMID:15709360|GC_ID:11|PMID:9226919|PMID:8782674 ncbi_taxonomy owl:Class NCBITaxon:186820 biolink:NamedThing Listeriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class UBERON:0004199 biolink:NamedThing S-shaped body The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron tmpak2llvmy_mondo_relaxed.owl SSB|stage II nephron owl:Class MONDO:0003337 biolink:NamedThing acute hemorrhagic encephalitis Acute encephalitis that is characterized by bleeding. tmpak2llvmy_mondo_relaxed.owl acute hemorrhagic encephalitis DOID:5224|NCIT:C35796|UMLS:C1332149 owl:Class MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. tmpak2llvmy_mondo_relaxed.owl Viruses caused encephalitis|Viruses encephalitis|viral encephalitis MedDRA:10058805|EFO:0007538|SCTID:34476008|NCIT:C35302|DOID:646|UMLS:C0243010|Orphanet:98252 Editor note: we place the Orphanet class here as it is implicitly viral owl:Class UBERON:0004185 biolink:NamedThing endodermal part of digestive tract A portions of the gut that is derived from endoderm. tmpak2llvmy_mondo_relaxed.owl endodermal gut|gut endoderm owl:Class UBERON:0004119 biolink:NamedThing endoderm-derived structure An anatomical structure that develops (entirely or partially) from the endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016778 biolink:NamedThing diphosphotransferase activity Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016772 biolink:NamedThing transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022829 biolink:NamedThing wide pore channel activity Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. tmpak2llvmy_mondo_relaxed.owl gap junction activity|non-gated, wide pore channel activity owl:Class GO:0015267 biolink:NamedThing channel activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. tmpak2llvmy_mondo_relaxed.owl pore activity|nonselective channel activity|channel-forming toxin activity|pore class transporter activity|alpha-type channel activity|substrate-specific channel activity|channel/pore class transporter activity owl:Class NCBITaxon:39744 biolink:NamedThing Rubulavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2560080 biolink:NamedThing Rubulavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004126 biolink:NamedThing trabecular layer of ventricle A myocardium trabecular layer that is part of a cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl trabecular cardiac ventricle muscle|myocardium of region of ventricle|ventricular trabecular myocardium owl:Class UBERON:0004124 biolink:NamedThing myocardium trabecular layer The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA]. tmpak2llvmy_mondo_relaxed.owl heart muscle trabeculae|trabeculae|trabecula of heart muscle|trabecular layer|myocardial trabecular layer|myocardial trabeculae carneae|heart muscle trabecula owl:Class UBERON:0000078 biolink:NamedThing mixed ectoderm/mesoderm/endoderm-derived structure An anatomical structure that develops from the ectoderm, mesoderm and endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004121 biolink:NamedThing ectoderm-derived structure An anatomical structure that develops (entirely or partially) from the ectoderm. tmpak2llvmy_mondo_relaxed.owl ectodermal deriviative owl:Class MONDO:0009735 biolink:NamedThing Netherton syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. tmpak2llvmy_mondo_relaxed.owl neth|Ns|Netherton syndrome|bamboo hair syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE|Netherton disease|Comèl-Netherton syndrome|NS|CoMèl-Netherton syndrome|Comel-Netherton syndrome MedDRA:10062909|OMIM:256500|ICD10:Q80.8|MESH:D056770|NCIT:C84922|SCTID:312514006|GARD:0007182|DOID:0050474|Orphanet:634 https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome owl:Class MONDO:0017265 biolink:NamedThing autosomal recessive congenital ichthyosis Autosomal recessive form of inherited ichthyosis. tmpak2llvmy_mondo_relaxed.owl autosomal recessive inherited ichthyosis|ARCI|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive OMIMPS:242300|DOID:0060655|Orphanet:281097 Editor note: ORDO classifies as non-syndromic but syndromic forms exist owl:Class MONDO:0019409 biolink:NamedThing idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. tmpak2llvmy_mondo_relaxed.owl idiopathic juvenile osteoporosis|juvenile osteoporosis|osteoporosis, juvenile|Pediatric osteoporosis|idiopathic osteoporosis|Ijo ICD9:733.02|ICD10:M81.5|Orphanet:85193|OMIM:259750|UMLS:CN536248|MESH:C537700|SCTID:3345002|GARD:0006760|NCIT:C119996|DOID:12559 owl:Class MONDO:0005298 biolink:NamedThing osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). tmpak2llvmy_mondo_relaxed.owl fracture, hip, susceptibility to|osteoporosis, involutional GARD:0011932|ICD9:733.09|NCIT:C3298|ICD10:M81.0|EFO:0003882|OMIM:166710|MESH:D010024|ICD9:733.0|SCTID:64859006|ICD9:733.00|DOID:11476|ICD10:M81 owl:Class MONDO:0005043 biolink:NamedThing hyperplasia An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. tmpak2llvmy_mondo_relaxed.owl hyperplastic|hyperplasia NCIT:C3113|EFO:0000536|MESH:D006965 owl:Class MONDO:0045024 biolink:NamedThing cancer or benign tumor Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. tmpak2llvmy_mondo_relaxed.owl cell proliferation disorder|neoplasm owl:Class MONDO:0019816 biolink:NamedThing anomaly of the tricuspid subvalvular apparatus tmpak2llvmy_mondo_relaxed.owl Orphanet:95463|ICD10:Q22.8 owl:Class MONDO:0020289 biolink:NamedThing congenital tricuspid malformation tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:98721|HP:0001702|ICD10:Q22.4|ICD10:Q22.5|ICD10:Q22.9 owl:Class MONDO:0006507 biolink:NamedThing hereditary hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. tmpak2llvmy_mondo_relaxed.owl haemochromatosis|hemochromatosis, hereditary|diabetes bronze|hemochromatosis|iron storage disorder EFO:1000642|SCTID:35400008|ICD10:E83.11|GARD:0010746|NCIT:C84481|DOID:2352|OMIMPS:235200|ICD10:E83.110|MESH:D006432|ICD10:E83.119 Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 https://github.com/monarch-initiative/mondo/issues/3557 owl:Class MONDO:0017763 biolink:NamedThing disorder of iron metabolism and transport tmpak2llvmy_mondo_relaxed.owl ICD10:E83.1|UMLS:CN227206|Orphanet:309842 owl:Class MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. tmpak2llvmy_mondo_relaxed.owl prostate cancer, familial|familial prostate cancer|prostate cancer, hereditary|hereditary prostate carcinoma|hereditary prostate cancer GTR:AN0101368|Orphanet:1331|GARD:0004520|SCTID:715412008|UMLS:CN036094|NCIT:C103817|OMIM:176807|GTR:AN0101369|UMLS:C2931456 Editor note: check OMIM https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer owl:Class GO:0061307 biolink:NamedThing cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014033 biolink:NamedThing neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006916 biolink:NamedThing non-keratinized epithelium of tongue A non-keratinized stratified squamous epithelium that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010304 biolink:NamedThing non-keratinized stratified squamous epithelium Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus. tmpak2llvmy_mondo_relaxed.owl stratified squamous nonkeratinizing epithelium|stratified squamous non-keratinized epithelium|nonkeratinizing stratified squamous epithelium|epithelium stratificatum squamosum noncornificatum owl:Class MONDO:0001658 biolink:NamedThing nontoxic goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. tmpak2llvmy_mondo_relaxed.owl Nodule-thyroid, non tox|nontoxic goiter|goiter, non-toxic|non-toxic goiter|euthyroid goiter|non-toxic goitre|goitre, non-toxic|non-toxic simple goitre UMLS:C0221777|ICD10:E04.9|ICD10:E04.0|DOID:13195|NCIT:C35271 owl:Class MONDO:0005397 biolink:NamedThing goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. tmpak2llvmy_mondo_relaxed.owl goiter|goiter (disease)|Thyromegaly|goitre goiter (disease) DOID:12176|EFO:0004283|SCTID:3716002|HP:0000853|NCIT:C26785|ICD9:240.9|ICD10:E04.9|MESH:D006042 owl:Class MONDO:0007259 biolink:NamedThing craniofaciofrontodigital syndrome Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). tmpak2llvmy_mondo_relaxed.owl Cantu craniofaciofrontodigital syndrome|craniofaciofrontodigital syndrome ICD10:Q87.0|MESH:C567298|OMIM:114620|SCTID:763320005|UMLS:C2676032|Orphanet:363705 owl:Class MONDO:0100237 biolink:NamedThing inherited cutis laxa An instance of cutis laxa that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary cutis laxa OMIMPS:123700 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001698 biolink:NamedThing tinea profunda A dermatophytosis that involves the deep dermal layers. tmpak2llvmy_mondo_relaxed.owl deep seated dermatophytosis|granuloma trichophyticum|Majocchi's granuloma DOID:13368|UMLS:C1279621|SCTID:214600002 owl:Class MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. tmpak2llvmy_mondo_relaxed.owl ringworm|dermatomycosis|skin disease, fungal|fungal skin diseases|fungal skin disease|skin diseases, fungal ICD10:B35.9|ICD9:110.9|SCTID:47382004|ICD10:B35|NCIT:C26745|DOID:8913|ICD9:110.8|UMLS:C0011636|ICD9:110 Editor note: check cutaneous vs superficial owl:Class MONDO:0007727 biolink:NamedThing autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. tmpak2llvmy_mondo_relaxed.owl TNF receptor-associated periodic syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|periodic FEVER, familial, autosomal dominant|tumor necrosis factor receptor 1 associated periodic syndrome|familial Hibernian fever|TNF receptor 1-associated periodic syndrome|TRAPS|TRAPS syndrome|TNF receptor-associated periodic fever syndrome|tumor necrosis factor receptor-associated periodic syndrome|Hibernian fever, familial|FPF|FHF OMIM:142680|MESH:C536657|ICD10:E85.0|GARD:0008457|NCIT:C119051|DOID:0090018|SCTID:403833009|Orphanet:32960 owl:Class MONDO:0017953 biolink:NamedThing hereditary periodic fever syndrome An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary periodic fever syndrome UMLS:CN204099|ICD10:E85.0|Orphanet:324924|MESH:D056660 owl:Class UBERON:0006214 biolink:NamedThing carpus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a carpal bone. tmpak2llvmy_mondo_relaxed.owl carpal pre-cartilage condensation owl:Class UBERON:0015049 biolink:NamedThing carpus endochondral element A carpus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl carpus skeletal element|carpus element owl:Class MONDO:0008912 biolink:NamedThing cardiac septal defects with coarctation of the aorta tmpak2llvmy_mondo_relaxed.owl cardiac septal defects with coarctation of the aorta UMLS:C1859331|MESH:C565883|OMIM:212090 owl:Class MONDO:0019600 biolink:NamedThing xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). tmpak2llvmy_mondo_relaxed.owl xeroderma of Kaposi|xeroderma pigmentosa|XP|angioma pigmentosum atrophicum|melanosis lenticularis progressiva|xeroderma pigmentosum syndrome|Kaposi dermatosis|atrophoderma pigmentosum|pigmented epitheliomatosis|Kaposi disease MESH:D014983|NCIT:C3452|GARD:0007910|UMLS:C0043346|MedDRA:10048220|DOID:0050427|ICD10:Q82.1|SCTID:44600005|Orphanet:910 https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum owl:Class MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. tmpak2llvmy_mondo_relaxed.owl UMLS:CN199363|Orphanet:139033 owl:Class MONDO:0010295 biolink:NamedThing anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. tmpak2llvmy_mondo_relaxed.owl OLEDAID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|ol-EDA-ID SCTID:720986005|OMIM:300301|MESH:C564538|Orphanet:69088|ICD10:Q78.2 owl:Class MONDO:0019313 biolink:NamedThing lymphatic malformation Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. tmpak2llvmy_mondo_relaxed.owl hereditary lymphedema|lymphedema, hereditary GARD:0007220|ICD9:757.0|ICD10:Q82.0|SCTID:254199006|DOID:0050580|OMIMPS:153100 owl:Class MONDO:0018964 biolink:NamedThing homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). tmpak2llvmy_mondo_relaxed.owl functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria|methylcobalamin deficiency ICD10:E72.1|UMLS:C4303479|Orphanet:622|SCTID:721225009 owl:Class MONDO:0020109 biolink:NamedThing constitutional megaloblastic anemia due to vitamin B12 metabolism disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:D51.9|ICD10:D51.3|ICD10:D51.2|Orphanet:98396|UMLS:CN227785|ICD10:D51.8|ICD10:D51.1|ICD10:D51.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class UBERON:0005906 biolink:NamedThing serous sac Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000062 biolink:NamedThing organ Anatomical structure that performs a specific function or group of functions [WP]. tmpak2llvmy_mondo_relaxed.owl anatomical unit|body organ|element owl:Class MONDO:0008759 biolink:NamedThing oxoglutaricaciduria Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. tmpak2llvmy_mondo_relaxed.owl ALPHA-ketoglutarate dehydrogenase deficiency|Alpha-ketoglutarate dehydrogenase deficiency|Oxoglutaric aciduria|Alpha KGD deficiency|2 alpha ketoglutarate dehydrogenase deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency MESH:C536582|Orphanet:31|SCTID:733630004|GARD:0000617|OMIM:203740|ICD10:E88.8|UMLS:C2752074 owl:Class MONDO:0019058 biolink:NamedThing neurometabolic disease tmpak2llvmy_mondo_relaxed.owl Orphanet:68385|UMLS:CN205539 owl:Class MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic hypertension|genetic hypertensive disorder UMLS:C0598428|Orphanet:156629 owl:Class MONDO:0005044 biolink:NamedThing hypertensive disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. tmpak2llvmy_mondo_relaxed.owl high blood pressure|hypertensive disease|HTN|hyperpiesia|blood pressure, high|hypertension|blood pressure, increased|pressure, high blood|vascular hypertensive disorder|increased blood pressure EFO:0000537|ICD9:401-405.99|SCTID:38341003|DOID:10763|ICD10:I15|UMLS:C0020538|NCIT:C3117|ICD9:997.91|MESH:D006973|ICD10:I10-I15|HP:0000822|ICD10:I10 owl:Class MONDO:0002533 biolink:NamedThing papillary adenoma An adenoma characterized by the presence of papillary epithelial patterns. tmpak2llvmy_mondo_relaxed.owl papillary adenoma NOS (morphologic abnormality)|glandular papilloma|adenoma, papillary, benign|papillary adenoma DOID:3172|NCIT:C79951|UMLS:C0205650 owl:Class MONDO:0004972 biolink:NamedThing adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl adenomas|acinar cell adenoma (morphologic abnormality)|adenoma, benign|adenoma|acinic cell adenoma|acinar cell adenoma ICDO:8140/0|NCIT:C2855|DOID:657|SCTID:443416007|MESH:D000236|EFO:0000232|UMLS:C0001430 Editor note: check status re benign owl:Class MONDO:0002519 biolink:NamedThing anus disease A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. tmpak2llvmy_mondo_relaxed.owl Ulcer of anus|anal fissure and fistula|disorder of anus|anus disease|nontraumatic tear of anus|anal fissure|anal disorder|anus disease or disorder|disease or disorder of anus|anal ulcer|anal disease|solitary anal ulcer|fissure in ano|disorder of anal region|disease of anus UMLS:C0016167|NCIT:C26695|DOID:3128|UMLS:C0003462|MESH:D001004|SCTID:32110003|UMLS:C1301262 owl:Class MONDO:0001593 biolink:NamedThing rectal disease A disease that involves the rectum. tmpak2llvmy_mondo_relaxed.owl rectum disease or disorder|disease of rectum|rectum disease|disorder of rectum|rectal disorder|disease or disorder of rectum ICD9:569.49|DOID:1285|MESH:D012002|UMLS:C0034882|SCTID:5964004 owl:Class NCIT:C12736 biolink:NamedThing Intestine tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C13018 biolink:NamedThing Organ tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016321 biolink:NamedThing female meiosis chromosome segregation The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045132 biolink:NamedThing meiotic chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020327 biolink:NamedThing classic Hodgkin lymphoma, nodular sclerosis type tmpak2llvmy_mondo_relaxed.owl ICD10:C81.1|Orphanet:98843 owl:Class MONDO:0009348 biolink:NamedThing classic Hodgkin lymphoma Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. tmpak2llvmy_mondo_relaxed.owl classical Hodgkin lymphoma|lymphoma, Hodgkin, classic|Hodgkin disease|Chl|classic Hodgkin disease|classical Hodgkin's lymphoma OMIM:236000|ICD10:C81.7|ICD10:C81.3|ICD10:C81.0|NCIT:C7164|ICD10:C81.9|UMLS:CN204952|Orphanet:391|ICD10:C81.2|ICD10:C81.1|ICD10:C81.4|ONCOTREE:CHL owl:Class UBERON:0003585 biolink:NamedThing dermis connective tissue A portion of connective tissue that is part of a dermis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dermis textus connectivus|portion of connective tissue of dermis|connective tissue of dermis|dermis portion of connective tissue|textus connectivus of dermis owl:Class UBERON:0002384 biolink:NamedThing connective tissue Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. tmpak2llvmy_mondo_relaxed.owl portion of connective tissue|Bindegewebe|textus connectivus owl:Class MONDO:0007829 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 1 tmpak2llvmy_mondo_relaxed.owl cholestasis, intrahepatic, of pregnancy, 1|cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, type 1|ICP1 UMLS:C3549845|OMIM:147480|DOID:0070228 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0017290 biolink:NamedThing familial intrahepatic cholestasis An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary intrahepatic cholestasis UMLS:CN239338|Orphanet:284385|ICD9:576.8|UMLS:CN227107|ICD10:K83.1|SCTID:74162007 owl:Class HGNC:11599 biolink:NamedThing TBX21 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003542 biolink:NamedThing right lung respiratory bronchiole A respiratory bronchiole that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right lung bronchiolus respiratorius|bronchiolus respiratorius of right lung|respiratory bronchiole of right lung owl:Class UBERON:0003538 biolink:NamedThing right lung bronchiole A bronchiole that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiole of right lung|lobular bronchiole of right lung|right lung lobular bronchiole owl:Class MONDO:0017284 biolink:NamedThing Xp22.13p22.2 duplication syndrome tmpak2llvmy_mondo_relaxed.owl Duplication Xp22|dup(X)(p22.13p22.2)|dup(X)(p22) UMLS:CN202846|ICD10:Q99.8|Orphanet:284180 owl:Class MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 owl:Class MONDO:0019098 biolink:NamedThing autoimmune thrombocytopenia An autoimmune form of thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl UMLS:C0242584|SCTID:128091003|MedDRA:10050245|Orphanet:71203|ICD10:D69.3 owl:Class MONDO:0002049 biolink:NamedThing thrombocytopenia A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. tmpak2llvmy_mondo_relaxed.owl platelet count decreased|thrombocytopenic disorder UMLS:CN130080|SCTID:302215000|DOID:1588|UMLS:C0040034|NCIT:C3408|ICD9:287.5|MESH:D013921|ICD10:D69.6 owl:Class UBERON:0000398 biolink:NamedThing cartilage tissue of sternum Any portion of cartilage tissue that is part of the sternum tmpak2llvmy_mondo_relaxed.owl cartilage of sternum owl:Class UBERON:0003837 biolink:NamedThing thoracic segment connective tissue A portion of connective tissue that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl textus connectivus of thorax|connective tissue of thorax|upper body connective tissue|thorax textus connectivus|portion of connective tissue of thorax|thorax connective tissue|thorax portion of connective tissue owl:Class UBERON:3000981 biolink:NamedThing limb external integument structure Dermal, epidermal, glandular and pigment structures of the limb integument. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:3000961 biolink:NamedThing external integument structure Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. tmpak2llvmy_mondo_relaxed.owl maxillonasal dysplasia|binder syndrome|Binder syndrome|MAXILLONASAL dysplasia, BINDER type|Maxillonasal dysostosis|binder type maxillonasal dysplasia OMIM:155050|MESH:C536036|ICD10:Q75.8|DOID:14683|UMLS:C0220692|SCTID:715985008|Orphanet:1248|GARD:0006992 owl:Class MONDO:0019589 biolink:NamedThing syndromic genetic deafness tmpak2llvmy_mondo_relaxed.owl syndromic genetic deafness|syndromic hearing loss Orphanet:90642|SCTID:232333009|UMLS:CN206426|ICD10:H90.3 owl:Class MONDO:0014421 biolink:NamedThing glucocorticoid resistance tmpak2llvmy_mondo_relaxed.owl glucocorticoid receptor deficiency|cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|Grl deficiency|glucocorticoid resistance, generalized|Gccr deficiency|GCCR ICD10:E25.8|OMIM:615962|MESH:C564221|GARD:0002499|UMLS:C1841972|Orphanet:786 https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance owl:Class MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. tmpak2llvmy_mondo_relaxed.owl lipid metabolism disorder|disorder of lipid metabolism|fatty acid metabolism disorder|dyslipidemia NCIT:C97092|DOID:3146|Orphanet:309005|ICD9:272.8|UMLS:C0154251|ICD9:272.9|MedDRA:10061227|SCTID:267431006 owl:Class MONDO:0000645 biolink:NamedThing fallopian tube benign neoplasm A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. tmpak2llvmy_mondo_relaxed.owl fallopian tube neoplasm, benign|benign fallopian tube tumor|benign tumor of fallopian tubes|benign tumor of fallopian tube|benign fallopian tube neoplasm|fallopian tube tumor, benign|benign neoplasm of fallopian tube|benign tumor of the fallopian tube|fallopian tube benign neoplasm|benign neoplasm of the fallopian tube DOID:0060111|UMLS:C0346190|Orphanet:180237|NCIT:C4517|ICD10:D28.2|MedDRA:10053865|SCTID:92100009 owl:Class MONDO:0021092 biolink:NamedThing fallopian tube neoplasm A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. tmpak2llvmy_mondo_relaxed.owl tumor of fallopian tube|fallopian tube neoplasm|fallopian tube neoplasm (disease)|fallopian tube tumor|tumor of the fallopian tube|neoplasm of fallopian tube|neoplasm of the fallopian tube NCIT:C3032|SCTID:126916003|ICD9:239.5|UMLS:C0015558 owl:Class MONDO:0600001 biolink:NamedThing glutaminase deficiency Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. tmpak2llvmy_mondo_relaxed.owl glutaminase deficiency http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017352 biolink:NamedThing disorder of glutamine metabolism tmpak2llvmy_mondo_relaxed.owl ICD9:270.7|SCTID:190724004|UMLS:C0342669|Orphanet:289841|ICD10:E72.8 owl:Class MONDO:0025485 biolink:NamedThing feline acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). tmpak2llvmy_mondo_relaxed.owl FAIDS|Feline acquired immuno deficiency syndrome|Feline immunodeficiency virus cat disease|AIDS, Feline|Feline immunodeficiency virus caused cat disease|Feline acquired immuno-deficiency syndrome|Feline acquired immune deficiency syndrome|Feline AIDS MESH:D016181|UMLS:C0079335 Editor note: consider separate class for infectious disease owl:Class MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. tmpak2llvmy_mondo_relaxed.owl diseases, Cat|Feline disease|cat disease|diseases, Feline|disease, Cat|disease, Feline|Feline diseases UMLS:C0007350|MESH:D002371 owl:Class MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. tmpak2llvmy_mondo_relaxed.owl Human Herpesvirus 6 encephalitis|Variant A or HHV-6A|Variant B or HHV-6B GARD:0009667 owl:Class MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. tmpak2llvmy_mondo_relaxed.owl brain inflammation Orphanet:97275|ICD9:323.0|ICD9:323.8|MESH:D004660|NCIT:C26760|UMLS:C0014038|ICD9:323.9|ICD10:A85|DOID:9588|MedDRA:10014581|SCTID:45170000 Editor note: consider merging with brain inflammation owl:Class MONDO:0003876 biolink:NamedThing eyelid carcinoma A carcinoma that arises from epithelial cells of the eyelid. tmpak2llvmy_mondo_relaxed.owl carcinoma of the eyelid|carcinoma of eyelid|eyelid carcinoma DOID:6425|UMLS:C0920196|NCIT:C6078 owl:Class MONDO:0002466 biolink:NamedThing eye carcinoma A carcinoma that arises from epithelial cells of the eye tmpak2llvmy_mondo_relaxed.owl carcinoma of eyeball of camera-type eye|eyeball of camera-type eye carcinoma|eye carcinoma|carcinoma of eye|carcinoma of the eye|ocular carcinoma UMLS:C0848866|DOID:295|NCIT:C6079 owl:Class HGNC:8847 biolink:NamedThing PER3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5206 biolink:NamedThing Cryptococcus tmpak2llvmy_mondo_relaxed.owl Filobasidiella|Cryptococcus GC_ID:1 NCBITaxon:107441|NCBITaxon:192653|NCBITaxon:5415 ncbi_taxonomy owl:Class NCBITaxon:1884633 biolink:NamedThing Cryptococcaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005923 biolink:NamedThing Pneumocystis infectious disease Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. tmpak2llvmy_mondo_relaxed.owl Pneumocystis infection|infections, Pneumocystis EFO:0007447|MESH:D016720|UMLS:C0851886 owl:Class MONDO:0005550 biolink:NamedThing infectious disease A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. tmpak2llvmy_mondo_relaxed.owl disease by infectious agent|transmissible disease|infectious|communicable disease|clinical infection|infectious diseases and manifestations|infectious disorder|infection|infectious disease ICD9:136.9|ICD10:A00.B99|DOID:0050117|SCTID:40733004|NCIT:C26726|MESH:D003141|ICD9:136.8|EFO:0005741|ICD9:079.0|IDO:0000436 Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. owl:Class GO:0006091 biolink:NamedThing generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. tmpak2llvmy_mondo_relaxed.owl intermediary metabolism|energy pathways|metabolic energy generation owl:Class GO:0044237 biolink:NamedThing cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl intermediary metabolism|cellular metabolism owl:Class MONDO:0009387 biolink:NamedThing familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. tmpak2llvmy_mondo_relaxed.owl endogenous hypertriglyceridaemia|lipd deficiency|hyperlipoproteinemia type I|Fredrickson type I hyperlipoproteinemia|mixed hyperglyceridemia|familial fat-induced hypertriglyceridemia|lipase D deficiency|hyperchylomicronemia|Fredrickson type I lipaemia|familial hyperchylomicronemia|hyperchylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|hypercholesterinaemic xanthomatosis|lipoprotein lipase deficiency|familial lipoprotein lipase deficiency with type I phenotype|lipoprotein lipase deficiency, familial|familial lipoprotein lipase deficiency (disorder) [ambiguous]|type I hyperlipoproteinemia|familial LPL deficiency|hyperlipemia, essential familial|LPL deficiency|hyperlipoproteinemia, type 1|hyperlipoproteinemia, type 1A|familial hyperlipoproteinemia type I|hyperlipoproteinemia, type I|Burger-Grutz syndrome|familial chylomiconemia syndrome|chylomicronemia, familial NCIT:C84771|DOID:14118|SCTID:275598004|Orphanet:309015|MESH:D008072|OMIM:238600|ICD10:E78.3|ICD9:272.3|GARD:0012241 https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency owl:Class MONDO:0001336 biolink:NamedThing familial hyperlipidemia An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease)|hyperlipemia|familial hyperlipoproteinemia ICD10:E78.5|DOID:1168 Editor note: consider merging owl:Class MONDO:0005292 biolink:NamedThing colitis Inflammation of the colon. tmpak2llvmy_mondo_relaxed.owl inflammation of colon|colitis (disease)|colon inflammation|colitis colitis (disease) SCTID:64226004|EFO:0003872|ICD9:558.9|DOID:0060180|MESH:D003092|HP:0002583|UMLS:C0009319|ICD10:K52.9|NCIT:C26723 owl:Class MONDO:0002269 biolink:NamedThing gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. tmpak2llvmy_mondo_relaxed.owl inflammation of intestine|infectious colitis, enteritis and gastroenteritis|cholera morbus|intestine inflammation SCTID:25374005|ICD9:558.9|DOID:2326|UMLS:C0017160|EFO:1001463|NCIT:C34632|ICD10:K52.9|MESH:D005759 owl:Class MONDO:0010878 biolink:NamedThing hereditary spastic paraplegia 6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 6|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia 6|autosomal dominant familial spastic paraplegia type 3|hereditary spastic paraplegia caused by mutation in NIPA1|hereditary spastic paraplegia type 6|familial spastic paraplegia autosomal dominant 3|NIPA1 hereditary spastic paraplegia|spastic paraplegia 6, autosomal dominant|autosomal dominant spastic paraplegia type 6|SPG6|FSP3 SCTID:732949006|GARD:0004928|Orphanet:100988|UMLS:C1838192|DOID:0110811|UMLS:C4518537|OMIM:600363|MESH:C536866|ICD10:G11.4 owl:Class MONDO:0017914 biolink:NamedThing pure or complex autosomal dominant spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure or complicated autosomal dominant spastic paraplegia Orphanet:320342|ICD10:G11.4 owl:Class MONDO:0002068 biolink:NamedThing female breast lower-inner quadrant cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lower-inner quadrant of female breast ICD9:174.3|ICD10:C50.31|ICD10:C50.3|DOID:1649|UMLS:C0153551|SCTID:188153009 owl:Class MONDO:0004379 biolink:NamedThing female breast carcinoma A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. tmpak2llvmy_mondo_relaxed.owl female breast carcinoma|carcinoma of the female breast|carcinoma of female breast|female breast cancer|mammary carcinoma of the female breast|mammary carcinoma of female breast|breast carcinoma, female ICD9:174.9|DOID:7843|NCIT:C2918|UMLS:C0007104|SCTID:372064008|SCTID:447782002|DOID:0050671|ICD9:174.8 owl:Class MONDO:0009218 biolink:NamedThing Farber lipogranulomatosis Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. tmpak2llvmy_mondo_relaxed.owl AC deficiency|acid ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|ceramidase deficiency|N-Laurylsphingosine deacylase deficiency|Farber disease|Farber lipogranulomatosis|FRBRL|Farber's disease MESH:D055577|UMLS:CN204335|UMLS:C0268255|SCTID:79935000|Orphanet:333|NCIT:C84710|GARD:0006426|ICD9:272.8|OMIM:228000|DOID:0050464|ICD10:E75.2 owl:Class MONDO:0020244 biolink:NamedThing unclassified primitive or secondary maculopathy tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:98666 Reason: out of scope. Term to consider: MONDO_0020242. MONDO:0020242 owl:Class MONDO:0004378 biolink:NamedThing pediatric cerebral ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood cerebral ependymoblastoma|childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered UMLS:C1332962|DOID:7841|NCIT:C6957 owl:Class MONDO:0016715 biolink:NamedThing ependymoblastoma Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. tmpak2llvmy_mondo_relaxed.owl neuroectodermal tumors primitive|ETANTR|ETMR|embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with Multilayered Rosettes|embryonal tumor with abundant neuropil and true Rosettes|ependymoblastoma|embryonal tumor with Multilayered Rosettes, C19MC-altered|ETMR, C19MC-altered|embryonal tumor with Multilayered Rosettes with C19MC amplification SCTID:715901002|GARD:0006352|NCIT:C4915|ICD10:C71.9|UMLS:C0700367|DOID:4794|MedDRA:10014966|Orphanet:251880|ONCOTREE:ETANTR owl:Class MONDO:0009189 biolink:NamedThing multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. tmpak2llvmy_mondo_relaxed.owl multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia with clubfoot|Polyepiphyseal dysplasia type 4|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia, autosomal recessive|rMED|epiphyseal dysplasia multiple 4|SLC26A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 4|MED4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|multiple epiphyseal dysplasia with double-layered patella|multiple epiphyseal dysplasia 4|epiphyseal dysplasia, multiple, type 4|EDM4 UMLS:C1847593|MESH:C535504|OMIM:226900|DOID:0070300|GARD:0009793|ICD10:Q77.3|Orphanet:93307|SCTID:715672007 owl:Class MONDO:0019688 biolink:NamedThing sulfation-related bone disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227674|Orphanet:93423 owl:Class ECTO:0001566 biolink:NamedThing exposure to cadmium An exposure to cadmium molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to cadmium molecular entity owl:Class ECTO:0000481 biolink:NamedThing exposure to transition element An exposure to transition element molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to transition element molecular entity owl:Class MONDO:0001887 biolink:NamedThing Allen-Masters syndrome A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. tmpak2llvmy_mondo_relaxed.owl Masters-Allen syndrome|Broad ligament laceration syndrome SCTID:69186005|ICD9:620.6|UMLS:C0152079|DOID:14133 owl:Class MONDO:0045043 biolink:NamedThing disease of uterine broad ligament A disease or disorder that involves the broad ligament of uterus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of broad ligament of uterus|broad ligament of uterus disease or disorder|disorder of broad ligament|disease of broad ligament of uterus|broad ligament of uterus disease|disorder of broad ligament of uterus SCTID:237062006|UMLS:C0404479 owl:Class CHEBI:29101 biolink:NamedThing sodium(1+) A monoatomic monocation obtained from sodium. tmpak2llvmy_mondo_relaxed.owl Na(+)|sodium cation|sodium(1+) ion|sodium(I) cation|Na+|SODIUM ION|sodium(1+) owl:Class CHEBI:60242 biolink:NamedThing monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. tmpak2llvmy_mondo_relaxed.owl a monovalent cation owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. tmpak2llvmy_mondo_relaxed.owl Lack of bladder control due to nervous system injury UMLS:C0005697|MSH:D001750|SNOMEDCT_US:398064005|SNOMEDCT_US:397732007 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl Poor bladder function UMLS:C3806583 HP:0008731|HP:0004424 human_phenotype owl:Class UBERON:0002224 biolink:NamedThing thoracic cavity The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. tmpak2llvmy_mondo_relaxed.owl thoracic lumen|chest cavity|pectoral cavity|cavity of chest|cavitas thoracis|space of thoracic compartment|cavity of thorax owl:Class UBERON:0000464 biolink:NamedThing anatomical space Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. tmpak2llvmy_mondo_relaxed.owl anatomical spaces|space|lumen space|lumen owl:Class MONDO:0020537 biolink:NamedThing occupational allergic alveolitis Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise tmpak2llvmy_mondo_relaxed.owl Orphanet:99909 owl:Class MONDO:0017853 biolink:NamedThing hypersensitivity pneumonitis Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. tmpak2llvmy_mondo_relaxed.owl extrinsic allergic alveolitis|exogen allergic alveolitis|alveolitis, extrinsic allergic|allergic pneumonitis|HP|allergic interstitial pneumonitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|hypersensitivity pneumonitis ICD10:J67.8|ICD9:495.8|SCTID:37471005|ICD10:J67.6|ICD10:J67.4|ICD10:J67.5|Orphanet:31740|GARD:0000012|ICD10:J67.1|ICD10:J67.9|ICD10:J67.2|MedDRA:10001890|ICD9:495.9|ICD10:J67.3|ICD10:J67.7|ICD10:J67.0 owl:Class UBERON:4300227 biolink:NamedThing hindlimb bud mesenchyme Mesenchyme that is part of a hindlimb bud. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010328 biolink:NamedThing limb bud mesenchyme Mesenchyme that is part of a limb bud. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019376 biolink:NamedThing West-Nile encephalitis An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. tmpak2llvmy_mondo_relaxed.owl West-Nile fever|West Nile fever with encephalitis|West Nile virus infectious encephalitis|West Nile virus caused infectious encephalitis|West Nile encephalitis|West Nile fever encephalitis ICD9:066.41|EFO:0007545|GARD:0009959|Orphanet:83476|DOID:2365|ICD10:A92.3|ICD10:A92.31|SCTID:392662004 owl:Class HsapDv:0000125 biolink:NamedThing 31-year-old human stage Adult stage that refers to an adult who is over 31 and under 32. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpak2llvmy_mondo_relaxed.owl stage|developmental stage owl:Class MONDO:0007328 biolink:NamedThing choroidal osteoma, bilateral tmpak2llvmy_mondo_relaxed.owl choroidal osteoma, bilateral MESH:C566124|UMLS:C1861558|OMIM:118865 owl:Class GO:0003022 biolink:NamedThing detection of pH by chemoreceptor signaling The process in which information about the levels of hydrogen ions are received and are converted to a molecular signal by chemoreceptors. tmpak2llvmy_mondo_relaxed.owl detection of pH by chemoreceptor signalling owl:Class GO:0003030 biolink:NamedThing detection of hydrogen ion The series of events in which a hydrogen ion stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001773 biolink:NamedThing myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002274 biolink:NamedThing myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpak2llvmy_mondo_relaxed.owl myeloid leucocyte activation owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. tmpak2llvmy_mondo_relaxed.owl Thoracic situs inversus|Heart tip and four chambers point towards right side of body UMLS:C0011813|Fyler:0110|MSH:D003914|SNOMEDCT_US:27637000|ICD-10:Q24.0|EPCC:02.01.02|Fyler:110 human_phenotype owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025359 peter 2008-02-20T01:23:00Z human_phenotype owl:Class FOODON:03414374 biolink:NamedThing bovine The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03414381 biolink:NamedThing bovid A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin. The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. tmpak2llvmy_mondo_relaxed.owl Widened posterior fossa UMLS:C1855889 human_phenotype owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. tmpak2llvmy_mondo_relaxed.owl Posterior fossa anomaly|Abnormality of the posterior fossa|Abnormality of the posterior cranial fossa UMLS:C3280768 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 human_phenotype owl:Class MONDO:0008445 biolink:NamedThing delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. tmpak2llvmy_mondo_relaxed.owl speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases Orphanet:3038|OMIM:182875|ICD10:Q87.0|GARD:0003449|UMLS:C2931119|SCTID:716199000 owl:Class MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic intellectual disability|syndrome associated with intellectual disability UMLS:CN225415|DOID:0050888 owl:Class MONDO:0025100 biolink:NamedThing mastitis, bovine Inflammation of the udder in cows. tmpak2llvmy_mondo_relaxed.owl bovine Mastitides|bovine mastitis|Mastitides, bovine MESH:D008414|EFO:1001765|UMLS:C0024895 owl:Class MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. tmpak2llvmy_mondo_relaxed.owl bovine disease|disease, bovine|diseases, cattle|diseases, bovine|disease, cattle|bovine diseases|cattle disease UMLS:C0007453|MESH:D002418 owl:Class UBERON:0003690 biolink:NamedThing fused sacrum A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis. tmpak2llvmy_mondo_relaxed.owl sacrum [sacral vertebrae I - V]|os sacrum|os sacrum [vertebrae sacrales I - V]|sacral bone|sacrum [sacral vertebrae I-V]|sacrum owl:Class UBERON:0006075 biolink:NamedThing sacral region of vertebral column Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum. tmpak2llvmy_mondo_relaxed.owl sacrum|sacral skeleton|axial skeleton sacral region|sacral vertebrae series owl:Class MONDO:0017336 biolink:NamedThing fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency tmpak2llvmy_mondo_relaxed.owl fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency Orphanet:289527|ICD10:I42.2 owl:Class MONDO:0017718 biolink:NamedThing mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:309136|UMLS:CN227185 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class NCBITaxon:32066 biolink:NamedThing Fusobacteria tmpak2llvmy_mondo_relaxed.owl Fusobacteriota|Fusobacteraeota|fusobacteria PMID:26654112|GC_ID:11|PMID:24969840|PMID:29458499 ncbi_taxonomy owl:Class NCBITaxon:2 biolink:NamedThing Bacteria tmpak2llvmy_mondo_relaxed.owl Prokaryotae|Prokaryota|Monera|bacteria|eubacteria|Procaryotae|prokaryote|prokaryotes|not Bacteria Haeckel 1894 PMID:8590690|PMID:10425796|PMID:11211268|PMID:9336922|PMID:11411719|PMID:10490293|PMID:11542017|PMID:10843050|PMID:11321113|PMID:10425797|PMID:9103655|PMID:7520741|GC_ID:11|PMID:12054223|PMID:11540071|PMID:2112744|PMID:10939677|PMID:8186100|PMID:10939673|PMID:270744|PMID:11760965|PMID:10425795|PMID:11321083|PMID:8123559|PMID:10939651|PMID:11542087 ncbi_taxonomy owl:Class CHEBI:22506 biolink:NamedThing aminoglycan tmpak2llvmy_mondo_relaxed.owl aminoglycans owl:Class CHEBI:65212 biolink:NamedThing polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. tmpak2llvmy_mondo_relaxed.owl polysaccharide derivatives owl:Class HGNC:28018 biolink:NamedThing NIPAL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700070 biolink:NamedThing myopathy caused by varation in POMT1 Any myopathy in which the cause of the disease is a varation in the POMT1 gene. tmpak2llvmy_mondo_relaxed.owl myopathy caused by mutation in POMT1|POMT1-related myopathy|POMT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016155 biolink:NamedThing qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan tmpak2llvmy_mondo_relaxed.owl secondary alpha-dystroglycanopathy|secondary dystroglycanopathy Orphanet:207113 owl:Class MONDO:0014004 biolink:NamedThing basal ganglia calcification, idiopathic, 4 tmpak2llvmy_mondo_relaxed.owl IBGC4|basal ganglia calcification, idiopathic, type 4|basal ganglia calcification, idiopathic, 4 OMIM:615007|UMLS:C3554321 owl:Class MONDO:0008947 biolink:NamedThing bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. tmpak2llvmy_mondo_relaxed.owl primary familial brain calcification|basal ganglia degeneration with calcification|cerebrovascular ferrocalcinosis|BSPDC|PFBC|basal ganglia calcification|idiopathic basal ganglia calcification|Fahr disease|basal ganglia calcification, idiopathic DOID:0060230|MESH:C536275|UMLS:C0393589|HP:0002135|ICD9:348.89|Orphanet:1980|MedDRA:10059626|SCTID:230311004|ICD9:333.0|UMLS:CN852731|OMIMPS:213600|SCTID:110997000|ICD10:G23.8 Encompasses a range of disorders with different etiology, see owl:Class MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. tmpak2llvmy_mondo_relaxed.owl Opitz C trigonocephaly|C syndrome|OTCS|Opitz trigonocephaly syndrome|trigonocephaly C syndrome|Opitz trigonocephaly C syndrome|trigonocephaly syndrome Orphanet:1308|UMLS:C0796095|ICD10:Q87.8|MESH:C537418|GARD:0005978|DOID:0111581|SCTID:715409005|OMIM:211750 https://rarediseases.info.nih.gov/diseases/5978/c-syndrome owl:Class HGNC:16940 biolink:NamedThing DGAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004997 biolink:NamedThing chondroblastoma A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. tmpak2llvmy_mondo_relaxed.owl chondroblastoma of bone|CHBL|chondroblastoma|chondroblastoma (disease) chondroblastoma (disease) UMLS:C0008441|GARD:0006047|DOID:2649|ICDO:9230/0|EFO:0000331|HP:0030432|ONCOTREE:CHBL|NCIT:C2945|MESH:D002804 owl:Class MONDO:0000631 biolink:NamedThing bone benign neoplasm A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl benign tumor of the bone|benign neoplasm of bone|benign bone neoplasm|benign neoplasm of the bone|benign osseous neoplasm|benign tumor of bone|benign bone tumor|benign osseous tumor|bone tissue benign neoplasm SCTID:92027006|NCIT:C4880|ICD9:213.9|DOID:0060094 owl:Class MONDO:0007969 biolink:NamedThing Melkersson-Rosenthal syndrome The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. tmpak2llvmy_mondo_relaxed.owl Melkersson-Rosenthal syndrome|cheilitis Granulomatosa|Melkersson syndrome|Melkersson's syndrome|Mros|MRS|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal MESH:D008556|NCIT:C84886|MedDRA:10027166|EFO:1001039|DOID:1761|OMIM:155900|ICD10:G51.2|GARD:0007010|UMLS:C0025235|Orphanet:2483 https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome owl:Class MONDO:0002098 biolink:NamedThing facial nerve disease A disease involving the facial nerve. tmpak2llvmy_mondo_relaxed.owl disorders of the seventh nerve|disorder of seventh cranial nerve|facial nerve disease|disease of facial nerve|facial nerve disease or disorder|disorder of facial nerve|disorders of the VIIth cranial nerve|disease or disorder of facial nerve|facial neuropathy|facial nerve disorder ICD10:G51|DOID:1756|ICD9:351.9|MESH:D005155|SCTID:422426003|NCIT:C27594|ICD10:G51.9|UMLS:C0015464|ICD9:351 owl:Class MONDO:0043071 biolink:NamedThing Zazam Sheriff Phillips syndrome tmpak2llvmy_mondo_relaxed.owl aniridia, lens luxation, mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, lens luxation, intellectual disability GARD:0000339|UMLS:C2931300|MESH:C536723 owl:Class GO:0051048 biolink:NamedThing negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl inhibition of secretion|down-regulation of secretion|downregulation of secretion|down regulation of secretion owl:Class GO:0051051 biolink:NamedThing negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down-regulation of transport|downregulation of transport|down regulation of transport|inhibition of transport owl:Class MONDO:0100091 biolink:NamedThing inherited pseudoxanthoma elasticum An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. tmpak2llvmy_mondo_relaxed.owl inherited Gronblad Strandberg syndrome|inherited PXE GARD:0009643 Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0019499 biolink:NamedThing Turner syndrome Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis - Turner|45X syndrome|karyotype 45, X|gonadal dysgenesis Turner type|Bonnevie-Ullrich syndrome|Bonnevie-Ulrich syndrome|gonadal dysgenesis (45,X)|monosomy X syndrome|45,X gonadal dysgenesis|XO syndrome|genital dwarfism, Turner type|45,X/46,XX syndrome|monosomy X|Ullrich-Turner syndrome|Schereshevkii Turner syndrome|genital dwarfism|chromosome X monosomy X|45,X0 syndrome|45, X syndrome|45,X syndrome|gonadal dysgenesis|Turner Varny syndrome ICD10:Q96|GARD:0002459|GARD:0002458|ICD10:Q96.9|ICD10:Q96.1|MESH:D014424|ICD9:758.7|ICD10:Q96.3|MedDRA:10045181|SCTID:38804009|GARD:0007831|NCIT:C26900|GARD:0002540|UMLS:C0041408|Orphanet:881|ICD10:Q96.4|DOID:3491|ICD10:Q96.8|ICD10:Q96.2|ICD10:Q96.0 Editor note: consider splitting BU syndrome https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome|https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type|https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism owl:Class MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation UMLS:CN226715|Orphanet:165707 owl:Class MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. tmpak2llvmy_mondo_relaxed.owl hepatitis C infection|viral hepatitis C|hepatitis Nona nonB|non-A, non-B Hepatitis|NANBH|Hepatitis C virus caused hepatitis|Hepatitis C virus hepatitis|chronic hepatitis C|hepatitis type C ICD9:070.7|NCIT:C3098|ICD9:070.54|MESH:D006526|SCTID:128302006|UMLS:C0019196|ICD10:B19.2|ICD9:070.41|EFO:0003047|ICD10:B19.20|DOID:1883 owl:Class HGNC:1033 biolink:NamedThing BDNF tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043539 biolink:NamedThing protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase. tmpak2llvmy_mondo_relaxed.owl protein ser/thr kinase activator activity owl:Class GO:0030295 biolink:NamedThing protein kinase activator activity Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010280 biolink:NamedThing ptosis, hereditary congenital 2 tmpak2llvmy_mondo_relaxed.owl ptosis, hereditary congenital 2|ptosis, hereditary congenital type 2|Ptos2|ptosis, X-linked MESH:C564553|UMLS:C1846128|OMIM:300245 owl:Class MONDO:0008340 biolink:NamedThing congenital ptosis Congenital ptosis is characterized by superior eyelid drop present at birth. tmpak2llvmy_mondo_relaxed.owl ptosis, hereditary congenital 1|congenital eyelid ptosis|PTOS1|congenital ptosis (disease)|congenital ptosis congenital ptosis (disease) ICD9:743.61|SCTID:268163008|OMIM:178300|Orphanet:91411|ICD10:Q10.0|MedDRA:10015996|MESH:C566737|DOID:0060261|NCIT:C27049|HP:0007970 owl:Class MONDO:0019909 biolink:NamedThing ring chromosome 16 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. tmpak2llvmy_mondo_relaxed.owl chromosome 16 ring|Ring chromosome 16 syndrome|R16|Ring chromosome type 16|Ring 16 ICD10:Q93.2|Orphanet:96178|GARD:0010855|SCTID:763406004 https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 owl:Class MONDO:0018186 biolink:NamedThing ring chromosome Aberrant chromosomes with no ends, i.e., circular. tmpak2llvmy_mondo_relaxed.owl supernumerary circular chromosome ICD10:Q93.2|Orphanet:363203 This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. owl:Class GO:0045948 biolink:NamedThing positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. tmpak2llvmy_mondo_relaxed.owl upregulation of translational initiation|activation of translational initiation|up regulation of translational initiation|up-regulation of translational initiation|stimulation of translational initiation owl:Class GO:0006446 biolink:NamedThing regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008606 biolink:NamedThing Say-field-Coldwell syndrome Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. tmpak2llvmy_mondo_relaxed.owl triphalangeal thumbs and dislocation of patella|polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs-dislocation of patella syndrome ICD10:Q74.8|GARD:0000242|UMLS:C1860805|OMIM:190650|MESH:C536619|Orphanet:3133 https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome owl:Class MONDO:0017434 biolink:NamedThing syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:294959|UMLS:CN203181 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0011399 biolink:NamedThing alpha thalassemia Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. tmpak2llvmy_mondo_relaxed.owl Alpha thalassaemia|alpha-thalassemia|alpha thalassemia|A-thalassemia MESH:D017085|NCIT:C34368|ICD9:282.49|DOID:1099|OMIM:604131|ICD10:D56.0|GARD:0000621|ICD9:282.43|MedDRA:10043390|Orphanet:846|UMLS:C0002312|SCTID:68913001 owl:Class MONDO:0000984 biolink:NamedThing thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. tmpak2llvmy_mondo_relaxed.owl sickle-cell thalassemia with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis|thalassemia Hb-S disease with crisis ICD9:282.4|SCTID:40108008|ICD10:D56|ICD10:D56.9|GARD:0007756|DOID:10241|ICD9:282.40|ICD9:282.49|MESH:D013789|UMLS:C0039730|EFO:1001996|NCIT:C35069 owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated circulating methylmalonic acid concentration MSH:C537358|UMLS:C0268583|SNOMEDCT_US:42393006 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0003123|HP:0008295 human_phenotype owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism tmpak2llvmy_mondo_relaxed.owl Abnormality of the vitamin B12 metabolism UMLS:C4021658 peter 2008-03-08T08:09:00Z human_phenotype owl:Class FOODON:03430131 biolink:NamedThing whole Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell). tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03430113 biolink:NamedThing food physical quality The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015690 biolink:NamedThing myeloid neoplasm associated with PDGFRB rearrangement Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ICD10:D47.1|Orphanet:168950|SCTID:724642009 owl:Class MONDO:0015688 biolink:NamedThing myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Orphanet:168943 owl:Class HGNC:20773 biolink:NamedThing TUBB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054804 biolink:NamedThing microcephaly 21, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl microcephaly 21, PRIMARY, autosomal recessive|MCPH21 UMLS:CN244930|OMIM:617983 owl:Class MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. tmpak2llvmy_mondo_relaxed.owl microcephaly, primary autosomal recessive|microcephaly, primary, autosomal recessive|MCPH|true microcephaly|microcephalia vera|microcephaly vera OMIMPS:251200|Orphanet:2512|SCTID:715981004|GARD:0012117|MESH:C579935|UMLS:C3711387|DOID:0070296|ICD10:Q02 https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly owl:Class MONDO:0017424 biolink:NamedThing non-syndromic brachydactyly tmpak2llvmy_mondo_relaxed.owl isolated brachydactyly|nonsyndromic brachydactyly|brachydactyly Orphanet:294937|SCTID:43476002 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0021004 biolink:NamedThing brachydactyly A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. tmpak2llvmy_mondo_relaxed.owl brachydactyly|brachydactyly (disease) brachydactyly (disease) DOID:0050581|HP:0001156|MESH:D059327 owl:Class MONDO:0003506 biolink:NamedThing pulmonary artery choriocarcinoma A rare choriocarcinoma that arises from a pulmonary artery. tmpak2llvmy_mondo_relaxed.owl pulmonary artery choriocarcinoma|syncytioma of the pulmonary artery|chorioepithelioma of pulmonary artery|pulmonary artery syncytioma|pulmonary artery chorioepithelioma|pulmonary artery choriocarcinoma (disease)|choriocarcinoma of the pulmonary artery|chorioepithelioma of the pulmonary artery|syncytioma of pulmonary artery|choriocarcinoma of pulmonary artery DOID:5547|UMLS:C1335571|NCIT:C5381 owl:Class MONDO:0006290 biolink:NamedThing malignant germ cell tumor A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the germ cell|malignant neoplasm of the germ cell|malignant germ cell tumor|cancer of germ cell|germ cell cancer|malignant neoplasm of germ cell|malignant germ cell neoplasm|germ cell tumor, malignant|malignant tumor of germ cell GARD:0003360|UMLS:C4048549|SCTID:145831000119103|EFO:1000352|NCIT:C4925 owl:Class MONDO:0025377 biolink:NamedThing African swine fever A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). tmpak2llvmy_mondo_relaxed.owl wart Hog disease|wart-Hog disease|wart-Hog diseases|swine fever, African MESH:D000357|UMLS:C0001752 owl:Class MONDO:0025294 biolink:NamedThing tick-borne infectious disease Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. tmpak2llvmy_mondo_relaxed.owl Tick-borne infection|Tick borne infections|infections, Tick-borne|diseases, Tick-borne|disease, Tick-borne|infection, Tick-borne|Tick borne diseases|Tick-borne infections|Tick-borne disease|infections, Tick borne MESH:D017282 owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. tmpak2llvmy_mondo_relaxed.owl Enlarged heart right atrium|Dilated right atrium|Right atrial dilatation SNOMEDCT_US:67751000119106|Fyler:2859|UMLS:C0748427|Fyler:1771 This feature can be appreciated on chext radiography, MRI, or CT. human_phenotype owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. tmpak2llvmy_mondo_relaxed.owl 2017-12-15 23:56:01+00:00 Fyler:1770 HPO:probinson human_phenotype owl:Class CL:0002457 biolink:NamedThing epidermal Langerhans cell A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-11-22T03:57:57Z cell owl:Class CL:0000453 biolink:NamedThing Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. tmpak2llvmy_mondo_relaxed.owl LC|Langerhans' cell FMA:63072|CALOHA:TS-2375|BTO:0000705 Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. cell owl:Class MONDO:0005242 biolink:NamedThing empyema An accumulation of pus in a body cavity, usually the pleural space. tmpak2llvmy_mondo_relaxed.owl collection of pus EFO:0003097|NCIT:C34572|MESH:D004653|SCTID:312682007|ICD9:510 owl:Class MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. tmpak2llvmy_mondo_relaxed.owl Bacteria infectious disease|Bacteria disease or disorder|bacterial infectious disease|bacterial infection|infections, bacterial|Bacteria caused disease or disorder|bacterial disorder|infection, bacterial|bacterial disease UMLS:C0004623|EFO:0000771|ICD9:040.89|MESH:D001424|SCTID:87628006|ICD9:041.89|ICD10:A49|DOID:104|ICD9:041.9|ICD10:A49.9|NCIT:C2890 owl:Class HGNC:7584 biolink:NamedThing MYL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007764 biolink:NamedThing autosomal dominant osteosclerosis, Worth type Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. tmpak2llvmy_mondo_relaxed.owl Worth syndrome|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, Worth type|osteosclerosis, autosomal dominant, Worth type|Ostéosclérose autosomique dominante type Worth|endosteal hyperostosis, autosomal dominant|osteosclerosis, autosomal dominant OMIM:144750|ICD10:Q78.2|GARD:0000390|Orphanet:2790 owl:Class MONDO:0005381 biolink:NamedThing bone disease Diseases of bones. tmpak2llvmy_mondo_relaxed.owl bone element disease or disorder|rare bone disease related to a common gene or pathway defect|disorder of bone element|disease or disorder of bone element|bone element disease|skeletal disease|disease of bone element UMLS:C0005940|Orphanet:364803|ICD9:731.8|ICD9:733.99|ICD10:M89.9|MESH:D001847|EFO:0004260|DOID:0080001|SCTID:76069003|UMLS:CN204768 owl:Class MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. tmpak2llvmy_mondo_relaxed.owl tuberculosis of liver ICD9:017.90|MESH:D014386|EFO:0007302|UMLS:C0041313|DOID:407|SCTID:186273003 owl:Class MONDO:0002251 biolink:NamedThing hepatitis An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. tmpak2llvmy_mondo_relaxed.owl animal hepatitis|acute and subacute liver necrosis|Hepatitides|liver inflammation|inflammation of liver|acute/subac. necrosis of liver|chronic hepatitis|Hepatitis|chronic persistent hepatitis|acute hepatitis|hepatitis NCIT:C3095|ICD9:570|ICD9:571.41|ICD9:571.40|DOID:2237|MESH:D006505|ICD9:571.4|SCTID:197268000|ICD10:K73.9|EFO:0008496 owl:Class MONDO:0007669 biolink:NamedThing renal cysts and diabetes syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. tmpak2llvmy_mondo_relaxed.owl RCAD syndrome|FJHN atypical|HNF1B-MODY|HNF1B-related renal cysts and diabetes syndrome|MODY type 5|maturity-onset diabetes of the young type 5|FJHN, atypical|hypoplastic type glomerulocystic kidney disease|familial hypoplastic glomerulocystic kidney|RCAD|renal cysts and diabetes syndrome|hyperuricemic nephropathy, familial juvenile, atypical|atypical FJHN|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|glomerulocystic kidney, familial hypoplastic|maturity onset diabetes of the Young, type 5|MODY5|atypical familial juvenile hyperuricemic nephropathy|renal dysfunction-early-onset diabetes syndrome|CAKUT with diabetes|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabetes|maturity-onset diabetes of the Young, type 5|glomerulocystic kidney disease, hypoplastic type OMIM:137920|NCIT:C123018|GARD:0010221|UMLS:C0431693|MESH:C535520|ICD10:E11.2|UMLS:CN206512|DOID:0111101|Orphanet:93111|SCTID:446641003 https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 owl:Class MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. tmpak2llvmy_mondo_relaxed.owl maturity onset diabetes of the young|Mason type diabetes|Mason-type diabetes|MODY|maturity-onset diabetes of the young|maturity-onset diabetes of the young (disease) maturity-onset diabetes of the young (disease) KEGG:04950|MESH:C562772|HP:0004904|UMLS:C0342276|SCTID:609561005|ICD10:E11.9|NCIT:C114769|GARD:0003697|ICD10:E11.8|OMIM:606391|DOID:0050524|Orphanet:552 owl:Class CHEBI:37176 biolink:NamedThing mononuclear parent hydride tmpak2llvmy_mondo_relaxed.owl mononuclear parent hydrides|mononuclear hydrides|mononuclear hydride owl:Class CHEBI:33692 biolink:NamedThing hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009567 biolink:NamedThing Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. tmpak2llvmy_mondo_relaxed.owl Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|Marinesco-Sjogren syndrome-myopathy|Marinesco-Sjogren-Garland syndrome|Marinesco-Sjogren syndrome|Garland-Moorhouse syndrome|MSS|Marinesco-Sjögren syndrome|Marinesco-Garland syndrome|oligophrenic cerebellolenticular degeneration|hereditary oligophrenic cerebello-lental degeneration DOID:0080195|OMIM:248800|UMLS:C0024814|Orphanet:559|ICD9:742.4|SCTID:80734006|GARD:0008341|ICD10:G11.1 owl:Class MONDO:0020165 biolink:NamedThing syndromic epicanthus tmpak2llvmy_mondo_relaxed.owl UMLS:CN227805|Orphanet:98574 owl:Class MONDO:0001034 biolink:NamedThing marginal corneal ulcer tmpak2llvmy_mondo_relaxed.owl UMLS:C0155067|DOID:10441|ICD9:370.01|ICD10:H16.04|SCTID:47398006 owl:Class MONDO:0004577 biolink:NamedThing corneal ulcer Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. tmpak2llvmy_mondo_relaxed.owl ulcer disease of cornea|cornea ulcer disease|Ulcer, corneal SCTID:91514001|ICD10:H16.00|ICD9:370.00|UMLS:C0010043|DOID:8463|ICD10:H16.0|HP:0200020|ICD9:370.0|NCIT:C50515|MESH:D003320 owl:Class MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus tmpak2llvmy_mondo_relaxed.owl VACTERL association with hydrocephaly, X-linked|X-linked VACTERL-H syndrome|VACTERLX|VACTERL association, X-linked, with or without hydrocephalus|VACTERL-H, X-linked DOID:0111766|GARD:0008498|UMLS:C2931228|OMIM:314390 owl:Class MONDO:0008642 biolink:NamedThing VACTERL/vater association VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. tmpak2llvmy_mondo_relaxed.owl VATER/VACTERL association|VATER syndrome|VATER association|VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome NCIT:C99105|GARD:0005443|MedDRA:10053665|DOID:14679|Orphanet:887|UMLS:CN206312|UMLS:C1735591|MedDRA:10066022|ICD9:759.89|UMLS:C0220708|SCTID:27742002|ICD10:Q87.2|OMIM:192350 owl:Class GO:2000284 biolink:NamedThing positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular amino acid formation|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism owl:Class GO:2000282 biolink:NamedThing regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis|regulation of cellular amino acid formation|regulation of cellular amino acid biosynthesis|regulation of amino acid biosynthetic process owl:Class UBERON:0002084 biolink:NamedThing heart left ventricle A cardiac ventricle that is in the left side of the heart. tmpak2llvmy_mondo_relaxed.owl cardiac left ventricle|left ventricle|left cardiac ventricle|left ventricle of heart|ventriculus sinister cordis owl:Class UBERON:0002082 biolink:NamedThing cardiac ventricle Cardiac chamber through which blood leaves the heart. tmpak2llvmy_mondo_relaxed.owl lower chamber of heart|heart ventricle|ventricle of heart|ventricle owl:Class HGNC:30935 biolink:NamedThing YY1AP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010412 biolink:NamedThing epididymal fat pad encapsulated adipose tissue associated with the epididymis tmpak2llvmy_mondo_relaxed.owl periepididymal fat pad owl:Class UBERON:0004120 biolink:NamedThing mesoderm-derived structure An anatomical structure that develops (entirely or partially) from the mesoderm. tmpak2llvmy_mondo_relaxed.owl mesodermal derivative owl:Class CL:0010003 biolink:NamedThing epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. tmpak2llvmy_mondo_relaxed.owl alveolus of lung epithelial cell May be merged with pneumocyte in future GOC:cjm owl:Class CL:0000066 biolink:NamedThing epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. tmpak2llvmy_mondo_relaxed.owl epitheliocyte CARO:0000077|FBbt:00000124|FMA:66768|BTO:0000414|WBbt:0003672|CALOHA:TS-2026 cell owl:Class MONDO:0017767 biolink:NamedThing rheumatic fever A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. tmpak2llvmy_mondo_relaxed.owl RHF - rheumatic fever|inflammatory rheumatism|ARF|acute rheumatic fever ICD10:I00-I02|GARD:0005699|MESH:D012213|ICD10:I01.2|DOID:1586|ICD9:390|UMLS:C0035436|ICD10:I01.1|NCIT:C34984|EFO:1001160|Orphanet:3099|ICD10:I01.0|ICD10:I01.8|ICD10:I01.9|MedDRA:10039054|ICD10:I00|SCTID:58718002|ICD9:390-392.99 https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever owl:Class MONDO:0021673 biolink:NamedThing post-bacterial disorder tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21062 biolink:NamedThing FARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000725 biolink:NamedThing regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of heart muscle cell differentiation|regulation of cardiomyocyte differentiation owl:Class GO:0051153 biolink:NamedThing regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. tmpak2llvmy_mondo_relaxed.owl chromosome 17q21.31 duplication syndrome|trisomy 17q21.31|dup(17)(q21.31)|17q21.31 microduplication syndrome OMIM:613533|UMLS:C3150787|ICD10:Q92.3|Orphanet:217340|DOID:0060434|SCTID:716683005|UMLS:C4274345 owl:Class MONDO:0000762 biolink:NamedThing syndrome caused by partial chromosomal duplication tmpak2llvmy_mondo_relaxed.owl chromosomal duplication syndrome DOID:0060429 Editor note: this is used in DOID to encompass typically partial duplications owl:Class ECTO:0000259 biolink:NamedThing exposure to glucocorticoid An exposure to glucocorticoid. tmpak2llvmy_mondo_relaxed.owl exposure to glucocorticoid owl:Class MONDO:0031219 biolink:NamedThing mismatch repair cancer syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:276300 owl:Class MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. tmpak2llvmy_mondo_relaxed.owl deficiency of DNA repair|DNA repair, deficient|DNA repair deficiency|DNA Repairs, deficient|disorder, DNA repair-deficiency|Repairs, deficient DNA|DNA repair-deficiency disorder|deficient DNA Repairs|chromosome instability syndrome|disorders, DNA repair-deficiency|DNA repair disorder|disorder of DNA repair|DNA repair-deficiency|chromosome instability syndromes|repair, deficient DNA|deficient DNA repair|DNA repair-deficiencies|syndrome, chromosome instability|syndromes, chromosome instability|DNA repair deficiency disorders MESH:D049914|NCIT:C7757|EFO:0008499 owl:Class MONDO:0010133 biolink:NamedThing thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. tmpak2llvmy_mondo_relaxed.owl familial thyroid dyshormonogenesis caused by mutation in TPO|TDH2A|TPO familial thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|thyroid dyshormonogenesis 2A|thyroid dyshormonogenesis type 2A|thyroid hormonogenesis, genetic defect in, 2A UMLS:C1291299|MESH:C563206|SCTID:124204003|ICD9:277.6|OMIM:274500|NCIT:C121750 owl:Class MONDO:0045046 biolink:NamedThing inherited thyroid metabolism disease An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism|inborn thyroid hormone metabolic process disorder|inborn error of thyroid hormone metabolic process ICD9:246.8|SCTID:36985004|UMLS:C0271824 owl:Class MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I tmpak2llvmy_mondo_relaxed.owl GLC1I|glaucoma 1, open angle, I UMLS:C1857852|MESH:C565724|OMIM:609745 owl:Class MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. tmpak2llvmy_mondo_relaxed.owl glaucoma, hereditary|hereditary glaucoma (disease) UMLS:CN227278|Orphanet:359|GARD:0002486|MESH:C580055 https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary owl:Class MONDO:0009535 biolink:NamedThing lymphedema, congenital recessive tmpak2llvmy_mondo_relaxed.owl lymphedema, congenital recessive 2022-01-01 OMIM:247440|MESH:C565432|UMLS:C1855475 Reason: out of scope. Term to consider: MONDO:0007919. MONDO:0007919 owl:Class MONDO:0008601 biolink:NamedThing triglyceride storage disease, type 1 tmpak2llvmy_mondo_relaxed.owl triglyceride storage disease, type I OMIM:190420|MESH:C566031|UMLS:C1860821 owl:Class MONDO:0000155 biolink:NamedThing triglyceride storage disease An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. tmpak2llvmy_mondo_relaxed.owl rare inborn error of sequestering of triglyceride|inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder See text of OMIM 190430. owl:Class MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. tmpak2llvmy_mondo_relaxed.owl deposit(s), calcium|calcium deposit(s)|calcification|macrocalcification|pathologic calcification|pathologically calcified structure ICD9:275.49|DOID:182|EFO:0003837|SCTID:6595006|HP:0003761|NCIT:C3672|MESH:D002114 owl:Class MONDO:0005557 biolink:NamedThing calcium metabolic disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. tmpak2llvmy_mondo_relaxed.owl calcium metabolism disorder|calcium metabolism disease|disorder of calcium metabolism EFO:0005769|ICD10:E83.5|DOID:10575|UMLS:C0006705|SCTID_2010_1_31:71638002|ICD9:275.49|ICD9:275.4|SCTID_2010_1_31:267442002|MESH:D002128|SCTID_2010_1_31:190874007|ICD10:E83.50|SCTID_2010_1_31:190863003|ICD9:275.40|SCTID:71638002 Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. owl:Class NCBITaxon:1980410 biolink:NamedThing Bunyavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497576 biolink:NamedThing Ellioviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020290 biolink:NamedThing atrioventricular septal defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. tmpak2llvmy_mondo_relaxed.owl atrioventricular canal defect|ECD|AVCD|atrioventricular septal defect|AVSD|endocardial cushion defect|AV septal defect|common atrioventricular canal|common AV canal Orphanet:98722|DOID:0050651|SCTID:15459006|NCIT:C101029|GARD:0000802|ICD9:745.6|OMIMPS:606215|ICD10:Q21.2|ICD9:745.60|ICD9:745.69 owl:Class MONDO:0002078 biolink:NamedThing heart septal defect A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. tmpak2llvmy_mondo_relaxed.owl holes in the heart|Cardiac septal defects|congenital septal defect of heart|septal defect|congenital septal defect ICD9:745.9|NCIT:C84482|UMLS:C0018816|DOID:1681|SCTID:253273004|ICD10:Q21.9|ICD9:745.8|ICD10:Q21|MESH:D006343 owl:Class UBERON:0010708 biolink:NamedThing pectoral complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. tmpak2llvmy_mondo_relaxed.owl upper limb and shoulder|pectoral appendage/girdle complex|pectoral girdle plus anterior limb or fin|pectoral girdle plus pectoral limb or fin|upper limb|upper limb and pectoral girdle owl:Class OBO:CARO_0000003 biolink:NamedThing connected anatomical structure tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12417 biolink:NamedThing TUBG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009880 biolink:NamedThing short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined 4|CPHD4|short stature, pituitary and cerebellar defects, and small sella turcica|short stature, pituitary and cerebellar defects and small sella turcica|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined, 4 UMLS:C2678408|MESH:C567492|Orphanet:85442|OMIM:262700|GARD:0010604 owl:Class MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency, combined|multiple pituitary hormone deficiencies, genetic forms|genetic hypopituitarism|familial hypopituitarism|familial congenital hypopituitarism|combined pituitary hormone deficiencies, genetic forms SCTID:718182008|Orphanet:95494|GARD:0010602|GARD:0002252|OMIMPS:613038|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism owl:Class MONDO:0023018 biolink:NamedThing dupont sellier chochillon syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001983 https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome owl:Class MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. tmpak2llvmy_mondo_relaxed.owl syndromic disease|syndromic disease or disorder|symptom cluster|syndrome|syndrome associated with disease or disorder|cluster, symptom|clusters, symptom|syndromes|symptom clusters MESH:D013577|OGMS:0000086|NCIT:C28193|UMLS:C0039082|DOID:225 owl:Class UBERON:0036658 biolink:NamedThing wall of central canal of spinal cord tmpak2llvmy_mondo_relaxed.owl wall of central canal owl:Class UBERON:0000060 biolink:NamedThing anatomical wall Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. tmpak2llvmy_mondo_relaxed.owl wall of organ|organ wall|wall owl:Class MONDO:0000520 biolink:NamedThing parietal lobe ependymal tumor An ependymal tumor affecting the parietal lobe of the brain. tmpak2llvmy_mondo_relaxed.owl ependymal tumor of parietal lobe|parietal lobe ependymal tumor|parietal lobe ependymoma DOID:0050903|NCIT:C131575|UMLS:C4330935 owl:Class MONDO:0001952 biolink:NamedThing parietal lobe cancer A malignant neoplasm involving the parietal lobe tmpak2llvmy_mondo_relaxed.owl cancer of parietal lobe|malignant neoplasm of parietal lobe|malignant parietal lobe neoplasm|parietal lobe neoplasm|parietal lobe cancer DOID:14384|SCTID:363469001|UMLS:C0153637|ICD9:191.3|ICD10:C71.3 owl:Class MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. tmpak2llvmy_mondo_relaxed.owl STISS|Stankiewicz-Isidor syndrome OMIM:617516|UMLS:C4479599 owl:Class MONDO:0010371 biolink:NamedThing Aland island eye disease An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. tmpak2llvmy_mondo_relaxed.owl Aland island eye disease|FORSIUS-Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism|Forsius Eriksson type ocular albinism|AIED|Forsius-Eriksson syndrome|Åland Islands eye disease|ALAND ISLAND eye disease UMLS:C0268505|ICD10:H35.5|SCTID:266455006|DOID:0050630|OMIM:300600|MESH:C562664|Orphanet:178333|GARD:0010574 owl:Class MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. tmpak2llvmy_mondo_relaxed.owl X-linked disease or disorder|disease or disorder, X-linked|genetic disease, X-linked|X-linked inherited disorder|X linked genetic diseases|X-linked genetic diseases|disease, X-linked genetic|X-linked inherited disease|diseases, X-linked genetic|genetic diseases, X linked|disease, X-linked|X-linked hereditary disorder|genetic diseases, X chromosome linked|X-linked hereditary disease|X-linked genetic disease|genetic diseases, X-chromosome linked NCIT:C85865|ICD9:799.89|DOID:0050735|UMLS:C1138434|SCTID:128430005|MESH:D040181|UMLS:C2828000 owl:Class MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-like plus disease|MPSPS Orphanet:505248|OMIM:617303|UMLS:C4310627 owl:Class MONDO:0003917 biolink:NamedThing heart lymphoma An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. tmpak2llvmy_mondo_relaxed.owl primary Cardiac lymphoma|Primary heart lymphoma|lymphoma of heart|Cardiac lymphoma|PCL|heart lymphoma|lymphoma of the heart DOID:6547|NCIT:C5368|UMLS:C1332850 owl:Class GO:0005496 biolink:NamedThing steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0097159 biolink:NamedThing organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010728 biolink:NamedThing SCARF syndrome SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. tmpak2llvmy_mondo_relaxed.owl skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities|SCARF syndrome OMIM:312830|Orphanet:3134|MESH:C536625|ICD10:Q82.8|GARD:0000247|UMLS:C1839321|SCTID:734173003 owl:Class MONDO:0010215 biolink:NamedThing xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. tmpak2llvmy_mondo_relaxed.owl XPF|xeroderma pigmentosum, type F/Cockayne syndrome|XP-F|xeroderma pigmentosum, type 6|xeroderma pigmentosum group type F|xeroderma pigmentosum group F|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum VI|xeroderma pigmentosum 6|xeroderma pigmentosum, complementation group F|ERCC4 xeroderma pigmentosum|XP group F|xeroderma pigmentosum caused by mutation in ERCC4|XP, group F|XP6 SCTID:42530008|ICD10:Q82.1|Orphanet:276264|MESH:C562592|GARD:0005628|DOID:0110848|OMIM:278760|NCIT:C3968 owl:Class GO:0045722 biolink:NamedThing positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. tmpak2llvmy_mondo_relaxed.owl up regulation of gluconeogenesis|up-regulation of gluconeogenesis|upregulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis owl:Class GO:0006111 biolink:NamedThing regulation of gluconeogenesis Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpak2llvmy_mondo_relaxed.owl regulation of glucose biosynthetic process|regulation of glucose biosynthesis|regulation of gluconeogenesis involved in cellular glucose homeostasis owl:Class MONDO:0012813 biolink:NamedThing retinitis pigmentosa 29 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. tmpak2llvmy_mondo_relaxed.owl RP 29|retinitis pigmentosa type 29|RP29|retinitis pigmentosa 29 UMLS:C2677325|MESH:C567403|GARD:0010378|DOID:0110378|OMIM:612165|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 owl:Class MONDO:0006292 biolink:NamedThing malignant mesothelioma A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the mesothelium|malignant mesothelioma (disease)|asbestos-related malignant mesothelioma|malignant mesothelial tumor|malignant mesothelioma|MESOM|diffuse malignant mesothelioma|advanced malignant mesothelioma|malignant mesothelial neoplasm|malignant neoplasm of the mesothelium|malignant tumor of mesothelium|malignant neoplasm of mesothelium|mesothelioma, malignant malignant mesothelioma (disease) OMIM:156240|ICDO:9050/3|MESH:C562839|Orphanet:50251|UMLS:C0345967|ICD10:C45.0|EFO:1000355|HP:0100001|ICD9:199.1|UMLS:C0278752|GARD:0007026|DOID:1790|UMLS:C1332338|NCIT:C4456|MedDRA:10027406|SCTID:109378008 owl:Class MONDO:0005065 biolink:NamedThing mesothelioma A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. tmpak2llvmy_mondo_relaxed.owl mesothelioma UMLS:C0025500|EFO:0000588|MESH:D008654|NCIT:C3234|ICD10:C45 owl:Class MONDO:0004478 biolink:NamedThing pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. tmpak2llvmy_mondo_relaxed.owl CLL/SLL with unmutated IGVH|chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:8144|NCIT:C37204|UMLS:C1333038 owl:Class MONDO:0003864 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. tmpak2llvmy_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma ONCOTREE:CLLSLL|NCIT:C27911|ICDO:9823/3|UMLS:C1302547|DOID:6354 owl:Class MONDO:0013048 biolink:NamedThing hereditary spastic paraplegia 50 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 50|spastic quadriplegic cerebral palsy 3|AP4M1 hereditary spastic paraplegia|spastic paraplegia 50, autosomal recessive|hereditary spastic paraplegia caused by mutation in AP4M1|cerebral palsy, spastic quadriplegic, 3|SPG50|cerebral palsy, spastic quadriplegic, 3, formerly|autosomal recessive spastic paraplegia 50 OMIM:612936|UMLS:C2752008|DOID:0110802|MESH:C567858 owl:Class MONDO:0017241 biolink:NamedThing AP4-related intellectual disability and spastic paraplegia A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. tmpak2llvmy_mondo_relaxed.owl severe intellectual disability and progressive spastic paraplegia|AP4 deficiency syndrome|AP4 related intellectual disability and spastic paraplegia Orphanet:280763|UMLS:CN202757 owl:Class CL:0000188 biolink:NamedThing cell of skeletal muscle A somatic cell located in skeletal muscle. tmpak2llvmy_mondo_relaxed.owl skeletal muscle cell CALOHA:TS-2158|FMA:9727|BTO:0004392 cell owl:Class CL:0002371 biolink:NamedThing somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmpak2llvmy_mondo_relaxed.owl WBbt:0008378|BTO:0001268|FMA:72300 tmeehan 2010-09-24T09:44:42Z cell owl:Class MONDO:0020372 biolink:NamedThing early-onset sutural cataract tmpak2llvmy_mondo_relaxed.owl early-onset cataract with Y-shaped suture opacities Orphanet:98985|ICD10:Q12.0 owl:Class MONDO:0020379 biolink:NamedThing early-onset zonular cataract tmpak2llvmy_mondo_relaxed.owl UMLS:CN207251|ICD10:Q12.0|GARD:0001898|Orphanet:98995 https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract owl:Class MONDO:0017598 biolink:NamedThing primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. tmpak2llvmy_mondo_relaxed.owl ALCL, cutaneous|C-ALCL|primary C-ALCL|primary cutaneous CD30+ anaplastic large cell lymphoma|primary anaplastic large cell lymphoma of the skin|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary anaplastic large cell lymphoma of skin|regressive atypical histiocytosis|anaplastic large-cell lymphoma, primary cutaneous type|primary cutaneous CD30+ ALCL NCIT:C6860|MESH:D054446|MedDRA:10065863|UMLS:C1301362|ONCOTREE:PCALCL|ICD10:C86.6|Orphanet:300865 owl:Class MONDO:0020325 biolink:NamedThing anaplastic large cell lymphoma Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. tmpak2llvmy_mondo_relaxed.owl Ki-1+ anaplastic large cell lymphoma|CD30 positive anaplastic large cell lymphoma|anaplastic large cell lymphoma|primary systemic ALCL|Ki-1+ ALCL|CD30 Positive anaplastic large cell lymphoma|sACL|ALCL|Ki-1 lymphoma|Ki-1 positive anaplastic large cell lymphoma SCTID:277637000|MESH:D017728|ICD9:200.60|ICDO:9714/3|ICD10:C84.6|ICD10:C84.7|Orphanet:98841|NCIT:C3720|DOID:0050744|HGNC:427|GARD:0003112|UMLS:C0206180|EFO:0003032|ONCOTREE:ALCL|ICD9:200.6 https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma owl:Class MONDO:0012280 biolink:NamedThing Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. tmpak2llvmy_mondo_relaxed.owl megacolon-microcephaly syndrome|Goldberg-Shprintzen syndrome|GOSHS|Goldberg-Shprintzen megacolon syndrome SCTID:717822006|GARD:0009849|OMIM:609460|UMLS:C1836123|ICD10:Q87.8|MESH:C537279|Orphanet:66629|DOID:0060481 owl:Class MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic otorhinolaryngologic disease Orphanet:466084|UMLS:CN242186 owl:Class MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. tmpak2llvmy_mondo_relaxed.owl familial idiopathic nephrotic syndrome UMLS:C1868672|ICD10:N04.3|UMLS:CN536255|ICD10:N04.8|Orphanet:656|SCTID:718141008|ICD10:N04.1|UMLS:C4273714 owl:Class MONDO:0002350 biolink:NamedThing familial nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl congenital nephrotic syndrome|hereditary nephrotic syndrome OMIMPS:256300|NCIT:C35337|ICD10:N04|UMLS:C3501848|UMLS:CN043611|DOID:2590|SCTID:48796009 owl:Class HGNC:15974 biolink:NamedThing TRIM2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030073 biolink:NamedThing insulin secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009306 biolink:NamedThing protein secretion The controlled release of proteins from a cell. tmpak2llvmy_mondo_relaxed.owl protein secretion during cell fate commitment|glycoprotein secretion|protein secretion resulting in cell fate commitment owl:Class MONDO:0014140 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tmpak2llvmy_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14|muscle-eye-brain-GMPPB related|MDDGA14 UMLS:C3809216|OMIM:615350|DOID:0111233 owl:Class MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A tmpak2llvmy_mondo_relaxed.owl hard +/- E syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|Chemke syndrome|cerebroocular dysplasia muscular dystrophy syndrome|WWS|Walker-Warburg syndrome|hard syndrome|hydrocephalus, agyria and retinal dysplasia|Walker-Warburg muscular dystrophy|Pagon syndrome|Warburg syndrome|cerebroocular dysgenesis DOID:0050560|NCIT:C99109|MESH:D058494|GARD:0002599|OMIMPS:236670|Orphanet:899|UMLS:CN239483|ICD10:Q04.3|SCTID:111504002 owl:Class ECTO:4000001 biolink:NamedThing exposure to increased temperature A exposure event involving the interaction of an exposure receptor to increased temperature. tmpak2llvmy_mondo_relaxed.owl increased temperature exposure owl:Class ECTO:0010003 biolink:NamedThing exposure to environmental physical object quality A exposure event involving the interaction of an exposure receptor to physical object quality. tmpak2llvmy_mondo_relaxed.owl physical object quality exposure owl:Class GO:0008172 biolink:NamedThing S-methyltransferase activity Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008168 biolink:NamedThing methyltransferase activity Catalysis of the transfer of a methyl group to an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl methylase owl:Class HGNC:4877 biolink:NamedThing HESX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001719 biolink:NamedThing gonococcal bursitis An bursitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis ICD10:A54.49|DOID:13453|ICD9:098.52|SCTID:46699001|ICD10:M73.0|UMLS:C0153218 owl:Class MONDO:0002471 biolink:NamedThing bursitis Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpak2llvmy_mondo_relaxed.owl capsulitis, adhesive|adhesive capsulitis of the shoulder|adhesive capsulitis|Capsulitides, adhesive|Capsulitides, shoulder adhesive|frozen shoulders|adhesive Capsulitides|capsulitis|synovial bursa inflammation|capsulitis, shoulder adhesive|adhesive Capsulitides, shoulder|Bursitides|Capsulitides|inflammation of synovial bursa|frozen shoulder|shoulder adhesive capsulitis|adhesive capsulitis, shoulder|shoulders, frozen|shoulder, frozen|shoulder adhesive Capsulitides UMLS:C0006444|NCIT:C94407|MESH:D002062|DOID:2965|ICD9:727.3|ICD10:M71.9|SCTID:84017003 owl:Class MONDO:0006271 biolink:NamedThing low grade central osteosarcoma A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. tmpak2llvmy_mondo_relaxed.owl intraosseous well-differentiated osteosarcoma|low grade central osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade intramedullary osteosarcoma|low-grade central osteosarcoma|low grade intramedullary osteosarcoma NCIT:C6474|UMLS:C3814534|ICDO:9187/3|UMLS:C1266163|ONCOTREE:LGCOS|EFO:1000327 owl:Class MONDO:0009807 biolink:NamedThing osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. tmpak2llvmy_mondo_relaxed.owl osteoid sarcoma|bone tissue neoplasm|sarcoma of osteoid|osteosarcoma, malignant|osteosarcoma|osteosarcoma (disease)|osteogenic sarcoma osteosarcoma (disease) DOID:3347|EFO:0000637|HP:0002669|NCIT:C9145|ONCOTREE:OS|ICDO:9180/3 owl:Class GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular polysaccharide metabolism|cellular glycan metabolism|cellular glycan metabolic process owl:Class GO:0005976 biolink:NamedThing polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpak2llvmy_mondo_relaxed.owl glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process|glycan metabolic process owl:Class GO:1902624 biolink:NamedThing positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. tmpak2llvmy_mondo_relaxed.owl activation of neutrophil migration|up-regulation of neutrophil migration|up regulation of neutrophil migration|upregulation of neutrophil migration owl:Class GO:1902622 biolink:NamedThing regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0035121 biolink:NamedThing myeloid/lymphoid neoplasm associated with JAK2 rearrangement tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542|NCIT:C129853 owl:Class NCBITaxon:41819 biolink:NamedThing Ceratopogonidae tmpak2llvmy_mondo_relaxed.owl biting midges|no-see-ums GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41828 biolink:NamedThing Chironomoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000271 biolink:NamedThing tuberculous salpingitis An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. tmpak2llvmy_mondo_relaxed.owl fallopian tube tuberculosis ICD9:016.6|ICD9:016.60|ICD10:A18.17|DOID:0050166|SCTID:49558004|UMLS:C0275933 owl:Class MONDO:0003619 biolink:NamedThing salpingitis Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpak2llvmy_mondo_relaxed.owl fallopian tube inflammation|inflammation of fallopian tube UMLS:C0036130|MESH:D012488|ICD10:N70.91|SCTID:88157006|DOID:5733|NCIT:C26880 owl:Class GO:1900249 biolink:NamedThing positive regulation of cytoplasmic translational elongation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. tmpak2llvmy_mondo_relaxed.owl upregulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|up regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation owl:Class GO:0045901 biolink:NamedThing positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. tmpak2llvmy_mondo_relaxed.owl upregulation of translational elongation|activation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|up-regulation of translational elongation owl:Class GO:0014058 biolink:NamedThing negative regulation of acetylcholine secretion, neurotransmission Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine. tmpak2llvmy_mondo_relaxed.owl inhibition of acetylcholine secretion|down-regulation of acetylcholine secretion|downregulation of acetylcholine secretion|down regulation of acetylcholine secretion owl:Class GO:0046929 biolink:NamedThing negative regulation of neurotransmitter secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl inhibition of neurotransmitter secretion|downregulation of neurotransmitter secretion|down regulation of neurotransmitter secretion|conotoxin activity|down-regulation of neurotransmitter secretion owl:Class GO:0061526 biolink:NamedThing acetylcholine secretion The regulated release of acetylcholine by a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0023061 biolink:NamedThing signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. tmpak2llvmy_mondo_relaxed.owl signal secretion owl:Class MONDO:0007540 biolink:NamedThing multiple endocrine neoplasia type 1 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. tmpak2llvmy_mondo_relaxed.owl Wermer syndrome|multiple endocrine neoplasia type 1 syndrome|multiple endocrine neoplasia, type 1|endocrine adenomatosis, multiple|multiple endocrine adenomatosis type 1|MEN1 multiple endocrine neoplasia|Wermer's syndrome|men type I|MEA 1|men type 1|multiple endocrine adenomatosis type I|multiple endocrine adenomatosis|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1|endocrine adenomatosis multiple|MEN1 somatic mutations|MEN1 syndrome|multiple endocrine adenomatosis, type I|men 1|multiple endocrine neoplasia, type I|MEA type I|multiple endocrine neoplasia type I|multiple endocrine neoplasia type 1|MEN1 ICD10:E31.21|Orphanet:652|ICD9:258.01|MedDRA:10028190|UMLS:C0025267|NCIT:C3225|GARD:0003829|MESH:D018761|ICD10:D44.8|DOID:10017|SCTID:30664006|ICD9:237.4|OMIM:131100 https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 owl:Class MONDO:0018538 biolink:NamedThing inherited digestive cancer-predisposing syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:425003|UMLS:CN237539 owl:Class MONDO:0011895 biolink:NamedThing idiopathic hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl hypereosinophilic syndrome, idiopathic|HES OMIM:607685|ICD10:D47.5|Orphanet:3260|UMLS:C0206141|SCTID:423294001 owl:Class MONDO:0005110 biolink:NamedThing idiopathic cardiomyopathy A disease of the heart muscle or myocardium proper whose cause is unknown. tmpak2llvmy_mondo_relaxed.owl NCIT:C53654|EFO:0000767 owl:Class MONDO:0021404 biolink:NamedThing polyp of sphenoidal sinus A polyp that involves the sphenoidal sinus. tmpak2llvmy_mondo_relaxed.owl polyp of the sphenoid sinus|sphenoidal sinus polyp|polyp of the sphenoidal sinus|sphenoid sinus polyp|polyp of sphenoid sinus NCIT:C3933|ICD9:471.8|SCTID:90685008|UMLS:C0264255 owl:Class MONDO:0005079 biolink:NamedThing polyp A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. tmpak2llvmy_mondo_relaxed.owl polyp SCTID:441456002|EFO:0000662|MESH:D011127|ICD10:N84|NCIT:C3340 owl:Class GO:1905083 biolink:NamedThing negative regulation of mitochondrial translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. tmpak2llvmy_mondo_relaxed.owl downregulation of mitochondrial translational elongation|down regulation of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|down regulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translation elongation owl:Class GO:0045900 biolink:NamedThing negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. tmpak2llvmy_mondo_relaxed.owl down regulation of translational elongation|down-regulation of translational elongation|inhibition of translational elongation|downregulation of translational elongation owl:Class MONDO:0011577 biolink:NamedThing myopathy, proximal, and ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl MYPOP|MYOPATHY, proximal, and ophthalmoplegia|inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|inclusion body myopathy 3, autosomal dominant, formerly UMLS:C1854106|MESH:C565311|OMIM:605637 owl:Class HGNC:2204 biolink:NamedThing COL4A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005008 biolink:NamedThing colorectal adenocarcinoma The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl colorectum adenocarcinoma|adenocarcinoma of the large bowel|colorectal adenocarcinoma|adenocarcinoma of large intestine|adenocarcinoma of large bowel|adenocarcinoma of the large intestine|large bowel adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|large intestine adenocarcinoma UMLS:C1319315|NCIT:C5105|EFO:0000365|DOID:0050913|SCTID:408645001|ONCOTREE:COADREAD|DOID:0050861 Editor note: we follow NCIT in treating colorectal and large intestine as equivalent MONDO:0000528 owl:Class MONDO:0001640 biolink:NamedThing gonococcal spondylitis An spondylitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl DOID:13127|UMLS:C0153219|ICD9:098.53|SCTID:53664003 owl:Class MONDO:0100099 biolink:NamedThing retrograde cricopharyngeus dysfunction A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. tmpak2llvmy_mondo_relaxed.owl R-CPD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3712 owl:Class UBERON:0002113 biolink:NamedThing kidney A paired organ of the urinary tract which has the production of urine as its primary function. tmpak2llvmy_mondo_relaxed.owl reniculate kidney owl:Class MONDO:0005719 biolink:NamedThing Coronavinae infectious disease Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). tmpak2llvmy_mondo_relaxed.owl EFO:0007224|MESH:D018352 owl:Class MONDO:0010535 biolink:NamedThing Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas. tmpak2llvmy_mondo_relaxed.owl follicular atrophoderma and basal cell carcinomas|acrokeratosis of Bazex|BZX|Bazex-Dupré-Christol syndrome|acrokeratosis paraneoplastica of Bazex|Bazex-Dupre-Christol syndrome|follicular atrophoderma-basal cell carcinoma syndrome|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|BDCS|acrokeratosis paraneoplastica|Bazex syndrome ICD9:757.39|Orphanet:113|SCTID:238640007|SCTID:254820002|OMIM:301845|ICD10:L98.8|GARD:0000838|UMLS:CN200039|Orphanet:166113|UMLS:C0406355 owl:Class MONDO:0015331 biolink:NamedThing malformation syndrome with skin/mucosae involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:139027|UMLS:CN199361 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class NCBITaxon:91827 biolink:NamedThing Gunneridae tmpak2llvmy_mondo_relaxed.owl core eudicots|core eudicotyledons GC_ID:1 NCBITaxon:1437200 ncbi_taxonomy owl:Class NCBITaxon:71240 biolink:NamedThing eudicotyledons tmpak2llvmy_mondo_relaxed.owl eudicots|dicotyledons|dicots|Dicotyledoneae GC_ID:1|PMID:26724406|PMID:25249442 NCBITaxon:3399 ncbi_taxonomy owl:Class HGNC:3969 biolink:NamedThing FSHR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006165 biolink:NamedThing nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009132 biolink:NamedThing nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside diphosphate metabolism owl:Class MONDO:0000922 biolink:NamedThing pelvic inflammatory disease Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. tmpak2llvmy_mondo_relaxed.owl PID, pelvic inflammatory disease|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|inflammatory disease (PID), pelvic|PID|disease (PID), pelvic inflammatory|pelvic infection ICD10:N70-N77|ICD9:614-616.99|SCTID:198130006|ICD9:614.8|ICD9:614.9|ICD10:N73.9|NCIT:C3889|UMLS:C0242172|EFO:1001388|MESH:D000292|DOID:1003 owl:Class MONDO:0011804 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. tmpak2llvmy_mondo_relaxed.owl caspase-8 deficiency|ALPS with recurrent viral infections|CASP8 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome with recurrent viral infections|Ceds|autoimmune lymphoproliferative syndrome, type 2B|autoimmune lymphoproliferative syndrome type IIB|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|CEDS|caspase 8 deficiency|caspase eight deficiency state|ALPS2B|caspase 8 deficiency syndrome OMIM:607271|Orphanet:275517|GARD:0009796|ICD10:D47.9|DOID:0110116|SCTID:722290008 owl:Class MONDO:0017979 biolink:NamedThing autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. tmpak2llvmy_mondo_relaxed.owl ALPS (autoimmune lymphoproliferative syndrome)|autoimmune lymphoproliferative syndrome type 1, autosomal dominant|ALPS|Canale-Smith syndrome|FAS deficiency NCIT:C37864|ICD10:D89.82|CSP:1560-5548|DOID:6688|GARD:0008686|ICD9:279.41|ICD10:D47.9|Orphanet:3261|MESH:D056735|MedDRA:10069521|UMLS:C1328840 owl:Class MONDO:0002211 biolink:NamedThing B cell deficiency A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. tmpak2llvmy_mondo_relaxed.owl immunoglobulin heavy chain deletion|deficiency of humoral immunity|B-cell deficiency|immunoglobulin heavy chain deficiency|B cell (antibody) deficiencies ICD9:279.03|NCIT:C4799|DOID:2115 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 owl:Class MONDO:0004805 biolink:NamedThing leukocyte disease A disease involving leukocytes. tmpak2llvmy_mondo_relaxed.owl disease or disorder of leukocyte|disorder of leukocyte|disease of leukocyte|leukocyte disease or disorder|leukocyte disease|white blood cell disorder|disorders, leukocyte|disorder, leukocyte|leukocyte disorder ICD10:D72.9|DOID:9500|UMLS:C0023510|SCTID:54097007|ICD9:288.9|MESH:D007960|ICD9:288 owl:Class MONDO:0007477 biolink:NamedThing 3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. tmpak2llvmy_mondo_relaxed.owl dwarfism with tall vertebrae|three M syndrome|three M syndrome 1|three-M slender-boned nanism|3M syndrome|3-M syndrome|Le Merrer syndrome|dolichospondylic dysplasia|Miller-McKusick-Malvaux syndrome|Yakut short stature syndrome|3M1|3-MSBN|gloomy face syndrome|Dolichospondylic dysplasia|gloomy face syndrome Yakut short stature syndrome, included MESH:C535314|Orphanet:2616|ICD9:756.59|GARD:0005667|OMIMPS:273750|SCTID:702342007|DOID:0060241|ICD10:Q87.1 owl:Class MONDO:0019699 biolink:NamedThing slender bone dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93440 owl:Class MONDO:0011045 biolink:NamedThing MMEP syndrome A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. tmpak2llvmy_mondo_relaxed.owl syndromic microphthalmia type 8|microphthalmia, syndromic 8|Viljoen Smart syndrome|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|microphthalmia syndromic 8|Viljoen-Smart syndrome|MCOPS8|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|MMEP|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome OMIM:601349|Orphanet:3434|ICD10:Q87.8|SCTID:715533002|MESH:C537686|UMLS:C1832440|UMLS:C4275099|GARD:0003693 owl:Class CHEBI:38418 biolink:NamedThing 1,3-thiazoles tmpak2llvmy_mondo_relaxed.owl 1,3-thiazoles owl:Class CHEBI:48901 biolink:NamedThing thiazoles An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom. tmpak2llvmy_mondo_relaxed.owl thiazole owl:Class MONDO:0000417 biolink:NamedThing early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. tmpak2llvmy_mondo_relaxed.owl DOID:0050708 owl:Class MONDO:0000414 biolink:NamedThing childhood electroclinical syndrome A electroclinical syndrome that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric electroclinical syndrome|electroclinical syndrome of childhood DOID:0050704 owl:Class MONDO:0011872 biolink:NamedThing Griscelli syndrome type 2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. tmpak2llvmy_mondo_relaxed.owl Griscelli-PruniC)ras syndrome type 2|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|Griscelli disease type 2|PAID syndrome|Griscelli syndrome type 2|Griscelli-Pruniéras syndrome type 2|Griscelli-Pruni��ras syndrome type 2|partial albinism and immunodeficiency syndrome|Paid syndrome|GS2|Griscelli syndrome with hemophagocytic syndrome|Griscelli syndrome, type 2 OMIM:607624|UMLS:C1868679|MESH:C537302|DOID:0060833|Orphanet:79477|ICD10:E70.3|NCIT:C111814|GARD:0004483 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 owl:Class MONDO:0015134 biolink:NamedThing constitutional neutropenia A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl Kostmann disease|genetic infantile agranulocytosis|infantile genetic agranulocytosis|Kostmann neutropenia|Kostmann syndrome|congenital neutropenia NCIT:C61242|Orphanet:101987|ICD10:D70 owl:Class UBERON:0002169 biolink:NamedThing alveolar sac The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters tmpak2llvmy_mondo_relaxed.owl air sac|pulmonary alveolar sac|sacculus alveolaris owl:Class UBERON:0000115 biolink:NamedThing lung epithelium The epithelial layer of the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary epithelium|epithelial tissue of lung|epithelium of lung|lung epithelial tissue owl:Class MONDO:0010337 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 60, formerly|mental retardation, X-linked 60|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|mental retardation x-linked 60 (formerly)|OPHN1 deficiency|intellectual disability, X-linked 60|Oligophrenin-1 syndrome|OPHN1 XLMR, X-linked intellectual disability|OPHN1- related XLID|intellectual disability, X-linked 60, formerly|X-linked intellectual Deficit with cerebellar Hypoplasia|OPHN1 syndrome|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|intellectual disability x-linked 60 (formerly)|MRX60 (formerly)|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual disability-cerebellar hypoplasia syndrome|OPHN1 XLMR MESH:C537456|ICD10:Q04.3|Orphanet:137831|GARD:0009947|SCTID:719136005|OMIM:300486|GARD:0013093|DOID:0080311 https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance owl:Class GO:0032222 biolink:NamedThing regulation of synaptic transmission, cholinergic Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050804 biolink:NamedThing modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. tmpak2llvmy_mondo_relaxed.owl regulation of synaptic transmission|modulation of synaptic transmission|regulation of chemical synaptic transmission owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. tmpak2llvmy_mondo_relaxed.owl UMLS:C0221170|SNOMEDCT_US:16046003 HP:0009014 human_phenotype owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. tmpak2llvmy_mondo_relaxed.owl Issue with muscle function|Abnormality of muscle physiology UMLS:C4023182 peter 2012-04-25T02:00:15Z human_phenotype owl:Class MONDO:0005753 biolink:NamedThing epiglottitis Inflammation of the epiglottis. tmpak2llvmy_mondo_relaxed.owl mucosa of epiglottis inflammation|acute epiglottitis and supraglottitis|supraglottitis|inflammation of mucosa of epiglottis MESH:D004826|NCIT:C116007|ICD10:J05.10|EFO:0007261|SCTID:80384002|ICD10:J05.1|DOID:9398|UMLS:C0014541|ICD9:464.3 owl:Class MONDO:0020592 biolink:NamedThing disease of pharynx A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. tmpak2llvmy_mondo_relaxed.owl chordate pharynx disease or disorder|disease of chordate pharynx|pharyngeal disease|disease or disorder of chordate pharynx|disorder of chordate pharynx|pharyngeal disorder|chordate pharynx disease GARD:0007266|SCTID:75860007|NCIT:C26850 owl:Class MONDO:0005794 biolink:NamedThing Herpesviridae infectious disease Virus diseases caused by the herpesviridae. tmpak2llvmy_mondo_relaxed.owl Herpesvirus infections|Herpesviridae infection|Herpesviridae caused disease or disorder|infection, Herpesviridae|Herpesvirus infection|Herpesviridae infections|infections, Herpesviridae|herpes infection|infection, Herpesvirus|Herpesviridae disease or disorder|infections, Herpesvirus|herpesvirus infection SCTID:23513009|EFO:0007309|MESH:D006566 owl:Class MONDO:0007399 biolink:NamedThing TWIST1-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. tmpak2llvmy_mondo_relaxed.owl craniosynostosis type 1|CRS1|craniostenosis|TWIST1-related craniosynostosis|CRS|craniosynostosis 1 UMLS:CN029978|OMIM:123100|SCTID:57219006 https://github.com/monarch-initiative/mondo/issues/2659 owl:Class MONDO:0018971 biolink:NamedThing isolated oxycephaly Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. tmpak2llvmy_mondo_relaxed.owl acrocephaly|hypsicephaly|pyrgocephaly|turricephaly|hypsocephaly Orphanet:63440|SCTID:48069004|ICD10:Q75.0 owl:Class MONDO:0005250 biolink:NamedThing placental villitis Inflammatory process that involves the chorionic villi (villitis) of the placenta. tmpak2llvmy_mondo_relaxed.owl UMLS:C1270169|SCTID:388604008|EFO:0003110 owl:Class MONDO:0021166 biolink:NamedThing inflammatory disease A disease involving a pathogenic inflammatory response in the anatomical structure. tmpak2llvmy_mondo_relaxed.owl inflammation of anatomical structure|inflammatory disorder|inflammatory disease|anatomical structure inflammation ICD9:799.89|NCIT:C93210|UMLS:C1290884|SCTID:128139000 owl:Class MONDO:0008803 biolink:NamedThing Antley-Bixler syndrome Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. tmpak2llvmy_mondo_relaxed.owl osteodysgenesis, multisynostotic, with fractures|Antley Bixler syndrome|trapezoidocephaly synostosis syndrome|osteodysgenesis, multisynostotic with fractures|trapezoidocephaly-synostosis syndrome|multisynostotic osteodysgenesis with long bone fractures GARD:0005826|DOID:0050462|ICD10:Q87.0|Orphanet:83|SCTID:62964007 https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome owl:Class MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet:330197 owl:Class MONDO:0100413 biolink:NamedThing acute myeloid leukemia, biallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.) tmpak2llvmy_mondo_relaxed.owl AML, CEBP Biallelic Gene Mutation|AML, biCEBPA|AML, CEBPA Biallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, C/EBPalpha Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation owl:Class MONDO:0018874 biolink:NamedThing acute myeloid leukemia Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. tmpak2llvmy_mondo_relaxed.owl acute non lymphoblastic leukemia|acute myelocytic leukemia|acute myeloid leukemia|myeloid leukemia, acute|leukemia, myelocytic, acute|hematopoeitic - acute Myleogenous leukemia (AML)|acute nonlymphocytic leukemia|AML|leukemia, acute myeloid|acute granulocytic leukemia|leukemia, acute myeloid, susceptibility to|acute myelogenous leukemia|acute myeloblastic leukemia|leukemia, acute myelogenous|acute myeloid leukemia (AML)|ANLL|acute myelogenous leukemias|AML - acute myeloid leukemia|acute Nonlymphocytic leukemia DOID:9119|SCTID:91861009|MedDRA:10000880|ICD9:205.0|ICD10:C92.0|ICD10:C92.00|KEGG:05221|MESH:D015470|GARD:0012757|ICD9:205.00|ICDO:9861/3|OMIM:601626|NCIT:C3171|EFO:0000222|Orphanet:519|ONCOTREE:AML|UMLS:C0023467|GARD:0000537 https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia|https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia owl:Class GO:1901137 biolink:NamedThing carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivative formation|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative anabolism owl:Class GO:1901576 biolink:NamedThing organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. tmpak2llvmy_mondo_relaxed.owl organic molecular entity synthesis|organic substance anabolism|organic molecular entity anabolism|organic molecular entity formation|organic molecular entity biosynthetic process|organic molecular entity biosynthesis|organic substance biosynthesis|organic substance synthesis|organic substance formation owl:Class MONDO:0100253 biolink:NamedThing Roberts-SC phocomelia syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. tmpak2llvmy_mondo_relaxed.owl pseudothalidomide syndrome|phocomelia-pseudothalidomide syndrome|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|RBS NCIT:C4681|OMIM:268300 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class GO:0002889 biolink:NamedThing regulation of immunoglobulin mediated immune response Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21061 biolink:NamedThing SERAC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007631 biolink:NamedThing feeding behavior Behavior associated with the intake of food. tmpak2llvmy_mondo_relaxed.owl feeding on blood of other organism|feeding from phloem of other organism|behavioural response to food|feeding from xylem of other organism|feeding from tissue of other organism|taking of blood meal|feeding on or from other organism|hematophagy|injection of substance into other organism during feeding on blood of other organism|behavioral response to food|feeding from vascular tissue of another organism|eating|feeding behaviour|feeding from plant phloem|feeding on plant sap owl:Class GO:0007610 biolink:NamedThing behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. tmpak2llvmy_mondo_relaxed.owl behavioral response to stimulus|single-organism behavior|behavioural response to stimulus|behaviour owl:Class MONDO:0010548 biolink:NamedThing spinocerebellar ataxia, X-linked 2 tmpak2llvmy_mondo_relaxed.owl Scax2|cerebellar ataxia with extrapyramidal involvement, early-onset|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia, X-linked type 2|spinocerebellar ataxia X-linked type 2|cerebellar ataxia with extrapyramidal involvement early-onset OMIM:302600|MESH:C537314|GARD:0009978|UMLS:C1844885 owl:Class MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, X-linked|X-linked hereditary ataxia|hereditary ataxia, X-linked DOID:0050953|Orphanet:247765|ICD10:G11.1 MONDO:0000559 owl:Class MONDO:0008791 biolink:NamedThing isolated anencephaly/exencephaly Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. tmpak2llvmy_mondo_relaxed.owl ANPH|anencephaly|absence of a large part of the brain and the skull 2021-12-01 Orphanet:1048|ICD9:740.0|SCTID:89369001|OMIM:206500|ICD10:Q00.0|GARD:0005808 This will be obsoleted in the 2021-12-01 release. The term will be split into two terms: MONDO:8000007 anencephaly 1 and MONDO:0023893 anencephaly. owl:Class MONDO:0017059 biolink:NamedThing neural tube closure defect A disease that has its basis in the disruption of neural tube closure. tmpak2llvmy_mondo_relaxed.owl neural tube closure disease|disorder of neural tube closure Orphanet:268357 owl:Class UBERON:0034905 biolink:NamedThing gland lumen tmpak2llvmy_mondo_relaxed.owl lumen of gland owl:Class GO:0033047 biolink:NamedThing regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032689 biolink:NamedThing retinitis pigmentosa 85 tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 85|RP85 OMIM:618345 owl:Class MONDO:0009205 biolink:NamedThing faciocardiorenal syndrome Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl Eastman-Bixler syndrome|Eastman Bixler syndrome|faciocardiorenal syndrome UMLS:C0795936|MESH:C536388|SCTID:723333000|GARD:0002230|Orphanet:1973|OMIM:227280|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome owl:Class MONDO:0019721 biolink:NamedThing syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with congenital anomaly of kidney and urinary tract|syndromic congenital anomaly of kidney and urinary tract|syndromic renal or urinary tract malformation UMLS:CN227683|Orphanet:93547 owl:Class MONDO:0018513 biolink:NamedThing squamous cell carcinoma of colon A squamous cell carcinoma that involves the colon. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the colon|squamous cell carcinoma of colon|colonic squamous cell carcinoma|colonic epidermoid carcinoma|epidermoid carcinoma of colon|squamous cell colon carcinoma|colon squamous cell carcinoma|colon squamous cell cancer|colon epidermoid carcinoma|squamous cell carcinoma of the colon ICD10:C18.6|Orphanet:423994|NCIT:C5490|ICD10:C18.7|UMLS:CN237518|UMLS:C1333100|ICD10:C18.2|ICD10:C18.0|ICD10:C18.5|ICD10:C18.9|ICD10:C18.4|SCTID:766981007|DOID:5519|ICD10:C18.3|ICD10:C18.8 owl:Class MONDO:0006165 biolink:NamedThing colorectal squamous cell carcinoma A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpak2llvmy_mondo_relaxed.owl colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer|colorectum squamous cell carcinoma NCIT:C43588|UMLS:C1707442|EFO:1000198 owl:Class MONDO:0000603 biolink:NamedThing autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that involves the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl cardiovascular system autoimmune disease|cardiovascular system hypersensitivity reaction type II disease DOID:0060051 owl:Class MONDO:0004995 biolink:NamedThing cardiovascular disease A disease involving the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl cardiovascular disorder|disease or disorder of cardiovascular system|disease of subdivision of hemolymphoid system|circulatory system disease|disorder of cardiovascular system|cardiovascular system disease or disorder|cardiovascular disease (CVD)|disease of cardiovascular system|cardiovascular system disease|cardiovascular disease ICD9:423.8|ICD9:459.89|ICD9:429.89|SCTID:49601007|ICD9:429.7|ICD9:459.9|ICD9:429.81|ICD9:420-429.99|ICD9:424|ICD10:I00.I99|NCIT:C2931|ICD9:390-459.99|DOID:1287|ICD9:429|MESH:D002318|UMLS:C0007222|ICD9:429.8|ICD9:429.2|ICD9:423|EFO:0000319 owl:Class MONDO:0011049 biolink:NamedThing fine-Lubinsky syndrome Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. tmpak2llvmy_mondo_relaxed.owl brachycephaly, deafness, cataract and mental retardation|brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and intellectual disability GARD:0000958|OMIM:601353|UMLS:C0795941|MESH:C537933|ICD10:Q87.8|Orphanet:1272|SCTID:720955004 https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome owl:Class MONDO:0015159 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-intellectual disability tmpak2llvmy_mondo_relaxed.owl multiple congenital anomalies-intellectual disability with or without dysmorphism|MCA/MR|multiple congenital anomalies/dysmorphic syndrome-intellectual disability UMLS:CN228396|Orphanet:102283 owl:Class OBO:CHR_9606-chr2p13.2 biolink:NamedThing chr2p13.2 (Human) tmpak2llvmy_mondo_relaxed.owl 73300000 71300000 hg38 owl:Class GO:0030317 biolink:NamedThing flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. tmpak2llvmy_mondo_relaxed.owl flagellated sperm movement|sperm movement|sperm motility|sperm flagellum movement involved in flagellated sperm motility|sperm flagellum movement|sperm flagellum movement involved in flagellated sperm movement owl:Class GO:0097722 biolink:NamedThing sperm motility Any process involved in the controlled movement of a sperm cell. tmpak2llvmy_mondo_relaxed.owl sperm movement owl:Class PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. tmpak2llvmy_mondo_relaxed.owl time|period owl:Class GO:0002831 biolink:NamedThing regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048583 biolink:NamedThing regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023673 peter 2010-11-11T02:53:04Z human_phenotype owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpak2llvmy_mondo_relaxed.owl 2020-08-29 11:59:15+00:00 peter human_phenotype owl:Class HGNC:28727 biolink:NamedThing APOO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000367 biolink:NamedThing taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. tmpak2llvmy_mondo_relaxed.owl infections, Taenia|infection by taenia saginata|Taenia infection|Taenia saginata infectious disease|unarmed tapeworm infection|beef tapeworm infection|taenia saginata infection|infection by Taeniarhynchus saginatus DOID:0050596|MESH:D013622|SCTID:69163003|ICD10:B68.1|NCIT:C85180|ICD9:123.2|UMLS:C0152073|ICD10:B68|EFO:1001433 owl:Class MONDO:0004092 biolink:NamedThing thymic basaloid carcinoma A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. tmpak2llvmy_mondo_relaxed.owl basaloid carcinoma of Thymus|Thymus basaloid carcinoma|thymus basaloid squamous cell carcinoma|basaloid carcinoma of the Thymus|thymic basaloid carcinoma DOID:7050|UMLS:C1332464|NCIT:C6456 owl:Class MONDO:0003486 biolink:NamedThing basaloid squamous cell carcinoma A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. tmpak2llvmy_mondo_relaxed.owl basaloid squamous cell carcinoma|basaloid carcinoma (morphologic abnormality)|basaloid carcinoma|basaloid squamous cell carcinoma (morphologic abnormality) UMLS:C1266005|DOID:5522|NCIT:C54244|ICDO:8083/3 owl:Class MONDO:0021148 biolink:NamedThing female reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. tmpak2llvmy_mondo_relaxed.owl tumor of female reproductive system|gynecologic tumor|female reproductive organ neoplasm (disease)|tumor of the female reproductive system|female reproductive system tumor|female reproductive system neoplasm|female reproductive system neoplasm (disease)|neoplasm of the female reproductive system|female reproductive organ tumor|neoplasm of female reproductive system|gynecologic neoplasm|neoplasm of female reproductive organ EFO:1001331|MESH:D005833|UMLS:C0017416|NCIT:C3053 owl:Class MONDO:0002263 biolink:NamedThing female reproductive system disease A disease involving the female reproductive system. tmpak2llvmy_mondo_relaxed.owl female reproductive system disorder|gynecological disease|female reproductive system disease|disease of female reproductive system|disease of female genital system|female reproductive system disease or disorder|disease or disorder of female reproductive system|disorder of female genital tract|disorder of female reproductive system|disorder of female genital system|female reproductive disease MESH:D005831|NCIT:C27020|ICD9:629.9|DOID:229|SCTID:310789003 owl:Class MONDO:0004105 biolink:NamedThing childhood epithelioid sarcoma An epithelioid sarcoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl epithelioid sarcoma of childhood|childhood epithelioid sarcoma|pediatric epithelioid sarcoma|epithelioid sarcoma NCIT:C8095|DOID:7095|UMLS:C0279989 owl:Class MONDO:0002923 biolink:NamedThing uterine corpus endometrial stromal sarcoma A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal sarcoma of body of uterus|body of uterus endometrial stromal sarcoma|uterine corpus endometrial stromal tumor|uterine corpus ess|body of uterus endometrioid stromal sarcoma|uterine corpus endometrial stromal sarcoma DOID:4227|UMLS:C1519849|NCIT:C40219 owl:Class MONDO:0005210 biolink:NamedThing uterine corpus sarcoma A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the body of uterus|sarcoma of the uterine body|uterus sarcoma|corpus uteri sarcoma|sarcoma of corpus uteri|sarcoma of uterus|uterine body sarcoma|sarcoma of uterine body|uterine sarcoma|body of uterus sarcoma|sarcoma of the uterine corpus|sarcoma of the corpus uteri|sarcoma of the uterus|sarcoma of body of uterus|uterine sarcoma/mesenchymal|sarcoma of uterine corpus MedDRA:10039497|NCIT:C6339|EFO:0002914|GARD:0009383|ICD10:C54.2|Orphanet:213620|ONCOTREE:USARC|DOID:5165|UMLS:C0338113|SCTID:254877001 MONDO:0021422 https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. tmpak2llvmy_mondo_relaxed.owl Failure of development of eyelid|Hypotrophic eyelid UMLS:C4023453 peter 2011-12-13T08:38:23Z human_phenotype owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. tmpak2llvmy_mondo_relaxed.owl Abnormality of the eyelid|Abnormality of the eyelids UMLS:C4021803 HP:0000285 human_phenotype owl:Class MONDO:0018206 biolink:NamedThing childhood-onset autosomal recessive myopathy with external ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl ICD10:G71.2|Orphanet:363677 owl:Class MONDO:0020259 biolink:NamedThing myopathy with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: myopathy MONDO_0005336 owl:Class CL:0007000 biolink:NamedThing preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. tmpak2llvmy_mondo_relaxed.owl unsure of neural crest contribution. In VSAO we have develops_from CL:0000008 haendel 2012-06-15T01:27:01Z cell owl:Class CL:0000055 biolink:NamedThing non-terminally differentiated cell A precursor cell with a limited number of potential fates. tmpak2llvmy_mondo_relaxed.owl blast cell BTO:0000125|FMA:84782 define using PATO mulit-potent or oligopotent? cell owl:Class GO:1902531 biolink:NamedThing regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. tmpak2llvmy_mondo_relaxed.owl regulation of signal transmission via intracellular cascade|regulation of intracellular signaling chain|regulation of intracellular protein kinase cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling cascade|regulation of intracellular signaling pathway|regulation of intracellular signal transduction pathway owl:Class GO:0009966 biolink:NamedThing regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. tmpak2llvmy_mondo_relaxed.owl regulation of signaling pathway|regulation of signalling pathway owl:Class GO:1903781 biolink:NamedThing positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. tmpak2llvmy_mondo_relaxed.owl upregulation of cardiac conduction|up-regulation of cardiac conduction|up regulation of cardiac conduction|activation of cardiac conduction owl:Class GO:1903779 biolink:NamedThing regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26190 biolink:NamedThing MTMR14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021480 biolink:NamedThing benign neoplasm of soft palate A benign neoplasm that involves the soft palate. tmpak2llvmy_mondo_relaxed.owl benign soft palate tumor|benign tumor of the soft palate|benign neoplasm of the soft palate|benign soft palate neoplasm|benign tumor of soft palate|soft palate benign neoplasm UMLS:C0345557|ICD9:210.4|NCIT:C4404|SCTID:92386006 owl:Class MONDO:0005286 biolink:NamedThing palatal neoplasm A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. tmpak2llvmy_mondo_relaxed.owl secondary palate tumor|neoplasm of secondary palate|neoplasm of palate|tumor of the palate|neoplasm of the palate|tumor of palate|tumor of secondary palate|palate neoplasm|secondary palate neoplasm (disease)|secondary palate neoplasm|palate tumor EFO:0003849|UMLS:C0030215|NCIT:C4402|MESH:D010157|SCTID:126805009 owl:Class MONDO:0007845 biolink:NamedThing Kaposi sarcoma, susceptibility to tmpak2llvmy_mondo_relaxed.owl multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000 owl:Class MONDO:0015979 biolink:NamedThing hereditary predisposition to infections tmpak2llvmy_mondo_relaxed.owl genetic susceptibility to infections due to particular pathogens ICD10:D84.8|Orphanet:183710 Editor note: todo logical definition owl:Class UBERON:0001913 biolink:NamedThing milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. tmpak2llvmy_mondo_relaxed.owl mammary gland milk|mammal milk owl:Class UBERON:0006539 biolink:NamedThing mammary gland fluid/secretion A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards. tmpak2llvmy_mondo_relaxed.owl mammary gland secretion|lactiferous gland fluid|lactiferous gland secretion|secretion of mammary gland|mammary gland fluid|mammary gland secreted fluid owl:Class GO:0044147 biolink:NamedThing negative regulation of formation of structure involved in a symbiotic process Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpak2llvmy_mondo_relaxed.owl negative regulation of development of symbiont involved in interaction with host|negative regulation of development of symbiont during interaction with host owl:Class GO:0048519 biolink:NamedThing negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpak2llvmy_mondo_relaxed.owl down regulation of biological process|downregulation of biological process|inhibition of biological process|negative regulation of physiological process|down-regulation of biological process owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. tmpak2llvmy_mondo_relaxed.owl Abnormality of the scalp hair UMLS:C4022384 doelkens 2010-06-22T05:29:31Z human_phenotype owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality UMLS:C2677869|UMLS:C0157733 human_phenotype owl:Class MONDO:0009012 biolink:NamedThing multiple pterygium-malignant hyperthermia syndrome Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl malignant hyperthermia - arthrogryposis - torticollis|contractures, congenital, torticollis, and malignant hyperthermia|malignant hyperthermia-arthrogryposis-torticollis syndrome|froster-Iskenius-Waterson-Hall syndrome|malignant hyperthermia arthrogryposis torticollis|froster-Iskenius-Waterson syndrome GARD:0003361|ICD10:Q87.8|Orphanet:2215|OMIM:217150|MESH:C565679|UMLS:C1857576 https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis owl:Class MONDO:0015168 biolink:NamedThing arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. tmpak2llvmy_mondo_relaxed.owl Arthromyodysplasia congenita|Rossi syndrome|arthrogryposis multiplex congenita|congenital arthromyodysplasia|Guerin-Stern syndrome|myodystrophia fetalis deformans|myodysplasia|fibrous ankylosis of multiple joints|AMC|congenital amyoplasia|rocher-Sheldon syndrome|Otto syndrome|multiple congenital arthrogryposis|amyoplasia congenita|Guérin-Stern syndrome GARD:0000777|ICD10:Q74.3|Orphanet:1037|OMIMPS:617468|MedDRA:10051643 owl:Class MONDO:0009265 biolink:NamedThing Gaucher disease type I Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. tmpak2llvmy_mondo_relaxed.owl acid Beta-glucosidase deficiency|non-cerebral juvenile Gaucher disease|Gaucher disease type 1|GD I|Gaucher disease, type 1|Gaucher disease, type I|Gaucher disease type I|Gaucher disease, noncerebral juvenile|Gba deficiency|Gd 1|Gaucher's disease type I GARD:0002441|DOID:0110957|ICD10:E75.2|Orphanet:77259|OMIM:230800 owl:Class MONDO:0018374 biolink:NamedThing secondary avascular necrosis tmpak2llvmy_mondo_relaxed.owl secondary AVN ICD10:M87.2|ICD10:M87.1|Orphanet:399169|ICD10:M87.3 owl:Class UBERON:0036656 biolink:NamedThing wall of third ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036661 biolink:NamedThing wall of ventricular system of brain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014615 biolink:NamedThing trichothiodystrophy 2, photosensitive tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy 2, photosensitive|TTD2 OMIM:616390|UMLS:C4225344 owl:Class MONDO:0002470 biolink:NamedThing photosensitive trichothiodystrophy A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway tmpak2llvmy_mondo_relaxed.owl Tay syndrome|sulfur-deficient brittle hair syndrome|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy with congenital ichtyosis|IBIDS syndrome|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|trichothiodystrophy DOID:2960|GARD:0002944|UMLS:CN205101|Orphanet:453 owl:Class MONDO:0013005 biolink:NamedThing EAST syndrome SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). tmpak2llvmy_mondo_relaxed.owl seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|sesame syndrome|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|epilepsy, ataxia, sensorineural deafness, and tubulopathy|EAST syndrome|epilepsy, ataxia, sensorineural deafness and tubulopathy|SESAMES SCTID:721207002|GARD:0010514|UMLS:C2748572|OMIM:612780|Orphanet:199343|MESH:C557674|DOID:0060484 owl:Class MONDO:0015962 biolink:NamedThing inherited renal tubular disease tmpak2llvmy_mondo_relaxed.owl genetic renal tubular disease UMLS:CN200561|Orphanet:183592 owl:Class MONDO:0024392 biolink:NamedThing anaerobic balanitis tmpak2llvmy_mondo_relaxed.owl anaerobic balanitis UMLS:C0403764|SCTID:236746000 owl:Class MONDO:0006672 biolink:NamedThing balanitis An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. tmpak2llvmy_mondo_relaxed.owl inflammation of glans penis|balanitis|glans penis inflammation MESH:D001446|DOID:13033|EFO:1000833|SCTID:44882003|MedDRA:10004073|UMLS:C0004690|NCIT:C26705|ICD10:N48.1 owl:Class GO:0090358 biolink:NamedThing positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl positive regulation of tryptophan metabolism owl:Class GO:0090357 biolink:NamedThing regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl regulation of tryptophan metabolism owl:Class MONDO:0004685 biolink:NamedThing Waldeyer's ring cancer A malignant neoplasm involving the tonsillar ring. tmpak2llvmy_mondo_relaxed.owl malignant tumor of Waldeyer's ring|Waldeyer ring cancer|tonsillar ring cancer|malignant neoplasm of tonsillar ring|malignant neoplasm of Waldeyer's ring|cancer of tonsillar ring|malignant tonsillar ring neoplasm ICD9:149.1|DOID:8937|UMLS:C0153406|ICD10:C14.2|SCTID:187716008 owl:Class MONDO:0000621 biolink:NamedThing immune system cancer A malignant neoplasm involving the immune system tmpak2llvmy_mondo_relaxed.owl immune system cancer|malignant neoplasm of immune system|malignant immune system neoplasm|cancer of immune system DOID:0060083 owl:Class MONDO:0009460 biolink:NamedThing indolylacroyl glycinuria with intellectual disability tmpak2llvmy_mondo_relaxed.owl indolylacroyl glycinuria with mental retardation|indolylacroyl glycinuria with intellectual disability MESH:C565466|OMIM:243050|UMLS:C1855738 owl:Class MONDO:0010478 biolink:NamedThing SLC35A2-CDG SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type IIm|epileptic encephalopathy, early infantile, 22|CDG IIm|EIEE22|CDG2M|CDG syndrome type IIm|CDG-IIm|congenital disorder of glycosylation, type IIm|congenital disorder of glycosylation type 2m|SLC35A2-CDG|epileptic encephalopathy, early infantile, 22; EIEE22 DOID:0070265|ICD10:E77.8|UMLS:C3806688|GARD:0012403|Orphanet:356961|OMIM:300896 https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg owl:Class NCBITaxon:119060 biolink:NamedThing Burkholderiaceae tmpak2llvmy_mondo_relaxed.owl Burkholderia group PMID:16403855|GC_ID:11 NCBITaxon:119063 ncbi_taxonomy owl:Class NCBITaxon:80840 biolink:NamedThing Burkholderiales tmpak2llvmy_mondo_relaxed.owl Burkholderia/Oxalobacter/Ralstonia group PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class CL:1001005 biolink:NamedThing glomerular capillary endothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001037 cell owl:Class CL:1000746 biolink:NamedThing glomerular cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001036 cell owl:Class FOODON:03430130 biolink:NamedThing food (liquid) A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*. tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F5105 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) owl:Class FOODON:00002454 biolink:NamedThing food product by quality A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000451 biolink:NamedThing dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpak2llvmy_mondo_relaxed.owl veiled cell|interdigitating cell FMA:83036|CALOHA:TS-0194|BTO:0002042 cell owl:Class CL:0000145 biolink:NamedThing professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. tmpak2llvmy_mondo_relaxed.owl APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. cell owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. tmpak2llvmy_mondo_relaxed.owl Abnormality of skull size|Abnormality of cranium size|Abnormality of head size UMLS:C4025874 human_phenotype owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. tmpak2llvmy_mondo_relaxed.owl Abnormality of the skull bones|Abnormality of the skull UMLS:C0235942 human_phenotype owl:Class MONDO:0015360 biolink:NamedThing autosomal dominant hereditary axonal motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl ICD10:G60.0|UMLS:CN228927|Orphanet:140456 owl:Class MONDO:0018775 biolink:NamedThing axonal hereditary motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl axonal HMSN Orphanet:476109 owl:Class MONDO:0004512 biolink:NamedThing meningeal melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) tmpak2llvmy_mondo_relaxed.owl leptomeningeal melanomatosis|meningeal melanomatosis (morphologic abnormality)|melanomatosis of meningeal cluster|meningeal melanomatosis|meningeal cluster melanomatosis DOID:8243|ICDO:8728/3|NCIT:C6891|UMLS:C1266114 owl:Class MONDO:0016747 biolink:NamedThing primary melanoma of the central nervous system A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl Central nervous system melanoma|melanoma of central nervous system|melanoma of the Central nervous system|primary meningeal melanoma|melanoma of CNS|central nervous system melanoma (disease)|melanoma (disease) of central nervous system|malignant melanoma of meninges|central nervous system melanoma|melanoma of the CNS|primary CNS melanoma|CNS melanoma|primary melanoma of the CNS UMLS:CN201994|ONCOTREE:PCNSM|GARD:0012016|Orphanet:252050|NCIT:C5505|UMLS:C0349626 https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system owl:Class MONDO:0012701 biolink:NamedThing cataract 12 multiple types A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. tmpak2llvmy_mondo_relaxed.owl cataract 12, multiple types|CTRCT12 MESH:C566909|ICD10:Q12.0|DOID:0110239|OMIM:611597 owl:Class MONDO:0005129 biolink:NamedThing cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpak2llvmy_mondo_relaxed.owl opacity of the lens|cataract|cataract (disease) cataract (disease) ICD10:H26|HP:0000518|DOID:83|ICD9:366.44|ICD9:366.9|MESH:D002386|OMIMPS:116200|ICD9:366.8|SCTID:193570009|EFO:0001059|ICD9:366|NCIT:C26713 owl:Class UBERON:0007750 biolink:NamedThing metatarsophalangeal joint of pedal digit 1 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1. tmpak2llvmy_mondo_relaxed.owl metatarsophalangeal joint of first toe|metatarsophalangeal joint of great toe|metatarsophalangeal joint of pedal digit I|first metatarsophalangeal joint|metatarsophalangeal joint of first digit of foot|metatarsophalangeal joint of big toe owl:Class UBERON:0003696 biolink:NamedThing metatarsophalangeal joint The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral. tmpak2llvmy_mondo_relaxed.owl metatarsal joint|metatarsophalangeal|metatarsal-phalangeal joint|articulationes metatarsophalangeae|metatarsophalangeal articulation|metatarsalphalangeal joint owl:Class MONDO:0100363 biolink:NamedThing genital herpes simplex type 2 infectious disease Any herpes simplex type 2 infectious disease that involves the genitals. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0005770 biolink:NamedThing genital herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. tmpak2llvmy_mondo_relaxed.owl herpes genitalia|herpes genitalis|genital herpes simplex|venereal herpes|virus-genital herpes SCTID:33839006|ICD9:054.10|ICD9:054.1|DOID:8704|MESH:D006558|ICD9:054.19|NCIT:C14364|UMLS:C0019342|EFO:0007282 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class UBERON:0009553 biolink:NamedThing distal segment of pedal digit A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone. tmpak2llvmy_mondo_relaxed.owl toe distal segment|toe digit tip|tip of toe|distalmost part of toe|hindlimb digit tip|P3 segment of pedal digit owl:Class UBERON:0009551 biolink:NamedThing distal segment of digit A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). tmpak2llvmy_mondo_relaxed.owl digit tip|tip of digit|distal digit segment owl:Class MONDO:0002177 biolink:NamedThing hyperinsulinism Abnormally high levels of insulin in the blood. tmpak2llvmy_mondo_relaxed.owl hyperinsulinism|hyperinsulinism (disease)|hyperinsulinemia hyperinsulinism (disease) ICD9:251.1|HP:0000842|DOID:2018|ICD10:E16.1|UMLS:C0020459|SCTID:83469008|MESH:D006946 owl:Class MONDO:0001933 biolink:NamedThing endocrine pancreas disease A disease involving the endocrine pancreas. tmpak2llvmy_mondo_relaxed.owl disorder of endocrine pancreas|disease or disorder of endocrine pancreas|disorder of pancreatic islets|disease of endocrine pancreas|endocrine pancreas disease or disorder|endocrine pancreas disorder|endocrine pancreas disease|disorder of islets of langerhans NCIT:C27067|UMLS:C0271633|DOID:1428|ICD9:251|SCTID:17346000|ICD10:E16 owl:Class MONDO:0008380 biolink:NamedThing retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpak2llvmy_mondo_relaxed.owl RB|eye cancer, retinoblastoma|retinoblastoma|RB - retinoblastoma|RB1|retinoblastoma, malignant|Rb MedDRA:10038916|NCIT:C7541|MESH:D012175|DOID:768|SCTID:370967009|Orphanet:790|GARD:0007563|ICDO:9510/3|ICD10:C69.2|UMLS:C0035335|ONCOTREE:RBL https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class MONDO:0004338 biolink:NamedThing retinal cell cancer tmpak2llvmy_mondo_relaxed.owl malignant retinal cell neoplasm|malignant neoplasm of retinal cell|retinal cell cancer|cancer of retinal cell DOID:771 owl:Class MONDO:0013218 biolink:NamedThing exudative vitreoretinopathy 5 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. tmpak2llvmy_mondo_relaxed.owl TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in TSPAN12|exudative vitreoretinopathy type 5|EVR5|exudative vitreoretinopathy 5 MESH:C567648|UMLS:C2750079|OMIM:613310|DOID:0111408 owl:Class MONDO:0019516 biolink:NamedThing exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. tmpak2llvmy_mondo_relaxed.owl exudative vitreoretinopathy, familial|Criswick-Schepens syndrome|familial exudative vitreoretinopathy|FEVR SCTID:232063007|MESH:C580083|GARD:0001613|OMIMPS:133780|ICD10:H35.0|Orphanet:891|DOID:0050535|ICD9:362.10|ICD10:H35.00|UMLS:C4072980 owl:Class MONDO:0019540 biolink:NamedThing diffuse alveolar hemorrhage tmpak2llvmy_mondo_relaxed.owl diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage (disease) HP:0025420|Orphanet:90060|UMLS:CN206369|ICD10:J98.4 owl:Class MONDO:0005087 biolink:NamedThing respiratory system disease A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. tmpak2llvmy_mondo_relaxed.owl respiratory system disease|disease or disorder of respiratory system|respiratory system disease or disorder|respiratory system disorder|respiratory disease|respiratory disorder|disease of respiratory system|disorder of respiratory system ICD9:519.3|SCTID:50043002|ICD9:508.8|ICD10:J98|ICD9:516.8|ICD9:508.9|ICD10:J96-J99|ICD9:508.1|ICD9:519.1|ICD9:519.8|ICD9:500-508.99|ICD9:517.8|ICD9:503|ICD9:519.9|ICD9:516|EFO:0000684|ICD9:V47.2|ICD9:V12.60|ICD9:519|ICD9:516.9|NCIT:C26871|ICD9:510-519.99|MESH:D012140|ICD9:460-519.99|ICD9:517|DOID:1579|ICD9:508 owl:Class MONDO:0002036 biolink:NamedThing penile disease A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpak2llvmy_mondo_relaxed.owl penile disease|penis disease|disease of penis|penile disorder|disorder of penis|disease or disorder of penis|penis disease or disorder SCTID:33958003|ICD10:N48.89|ICD9:607.89|ICD9:607.9|ICD10:N48.8|ICD9:607.8|NCIT:C26846|UMLS:C0030846|MESH:D010409|DOID:1529 owl:Class MONDO:0016818 biolink:NamedThing Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). tmpak2llvmy_mondo_relaxed.owl microcephaly-hypergonadotropic hypogonadism-short stature syndrome Orphanet:2558|ICD10:E22.8|UMLS:CN202088 owl:Class MONDO:0002423 biolink:NamedThing rectosigmoid junction neoplasm A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl tumor of rectosigmoid junction|rectosigmoid neoplasm|rectosigmoid junction tumor|neoplasm of rectosigmoid junction|neoplasm of the rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid tumor|rectosigmoid junction neoplasm (disease) NCIT:C4877|DOID:2780|SCTID:126848003|UMLS:C0345873 owl:Class MONDO:0005070 biolink:NamedThing neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. tmpak2llvmy_mondo_relaxed.owl other neoplasm|neoplasm|disease of cellular proliferation|cell process disease|tumor|tumor disease|neoplasia|neoplastic disease|neoplasm (disease)|neoplastic growth neoplasm (disease) UMLS:CN236628|DOID:14566|EFO:0000616|ICD10:C00.D48|NCIT:C3262|ICD9:239.9|MESH:D009369|ONCOTREE:OTHER|ICD9:140-239.99|HP:0002664|ICD9:239.8|SCTID:55342001 owl:Class GO:0043011 biolink:NamedThing myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002573 biolink:NamedThing myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. tmpak2llvmy_mondo_relaxed.owl myeloid leucocyte differentiation owl:Class CHEBI:76759 biolink:NamedThing EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). tmpak2llvmy_mondo_relaxed.owl hydrolase inhibitors|EC 3.* inhibitors|EC 3.*.*.* inhibitor|EC 3.* (hydrolase) inhibitors|EC 3.*.*.* inhibitors|EC 3.* inhibitor|hydrolase (EC 3.*) inhibitor|hydrolase inhibitor|hydrolase (EC 3.*) inhibitors owl:Class CHEBI:23924 biolink:NamedThing enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. tmpak2llvmy_mondo_relaxed.owl inhibiteurs enzymatiques|enzyme inhibitor|inhibidores enzimaticos|inhibidor enzimatico|inhibiteur enzymatique|enzyme inhibitors owl:Class MONDO:0007435 biolink:NamedThing dentatorubral-pallidoluysian atrophy Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. tmpak2llvmy_mondo_relaxed.owl haw River syndrome|Naito-Oyanagi disease|dentatorubral pallidoluysian atrophy|dentatorubral-pallidoluysian atrophy|NOD|myoclonic epilepsy with choreoathetosis|Dentatorubropallidoluysian atrophy|DRPLA|Naito Oyanagi disease|ataxia, chorea, seizures, and dementia SCTID:68116008|ICD10:G11.8|GARD:0005643|NCIT:C122653|Orphanet:101|UMLS:C0751781|DOID:0060162|ICD9:333.99|OMIM:125370 https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy owl:Class MONDO:0019794 biolink:NamedThing autosomal dominant cerebellar ataxia type IV tmpak2llvmy_mondo_relaxed.owl ADCAIV|ADCA4|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV UMLS:CN229225|Orphanet:94149|ICD10:G11.8 owl:Class MONDO:0009419 biolink:NamedThing Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. tmpak2llvmy_mondo_relaxed.owl hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|woodhouse Sakati syndrome|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|woodhouse-Sakati syndrome|Woodhouse-Sakati syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome OMIM:241080|Orphanet:3464|GARD:0005592|MESH:C536742|ICD9:759.89|SCTID:237616002|UMLS:C0342286|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome owl:Class MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial dystonia|rare genetic dystonic disorder|hereditary dystonic disorder|rare genetic dystonia UMLS:CN227322|NCIT:C35527|Orphanet:391799|OMIMPS:128100 owl:Class MONDO:0018428 biolink:NamedThing 9q31.1q31.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3 ICD10:Q93.5|Orphanet:401923|UMLS:CN226140 owl:Class MONDO:0016908 biolink:NamedThing partial monosomy of the long arm of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 9q|partial monosomy of the long arm of chromosome type 9|partial deletion of the long arm of chromosome 9|partial deletion of chromosome 9q Orphanet:262074|ICD10:Q93.5 owl:Class MONDO:0009923 biolink:NamedThing 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. tmpak2llvmy_mondo_relaxed.owl 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|pseudovaginal perineoscrotal hypospadias|micropenis|46,XY DSD due to 5-alpha-reductase 2 deficiency|46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency|5 Alpha steroid reductase 2 deficiency|PPSH|steroid 5-alpha-reductase deficiency|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|familial incomplete Male pseudohermaphroditism, type 2|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|5-alpha reductase deficiency MESH:C535830|MedDRA:10000029|NCIT:C98699|Orphanet:753|GARD:0005680|OMIM:264600|SCTID:57514000|ICD10:Q56.1 owl:Class MONDO:0020041 biolink:NamedThing 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98086|UMLS:CN227739 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0010108 biolink:NamedThing testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl TGCT|teratoma, testicular|testicular germ cell neoplasm|testis germ cell tumor|testicular germ cell cancer|testicular germ cell neoplasms|nonseminomatous germ cell tumors|embryonal cell carcinoma|germ cell tumor of the testis|germ cell tumor of testis|germ cell neoplasm of the testis|endodermal sinus tumor|testicular germ cell tumor|spermatocytic seminoma|seminoma|germ cell neoplasm of testis|Male germ cell tumor GARD:0013047|MESH:C563236|NCIT:C8591|ICD9:239.5|DOID:5557|OMIM:273300|Orphanet:363504|EFO:1000566|ICD10:C62.1|SCTID:713577007|UMLS:C1336708 owl:Class MONDO:0005040 biolink:NamedThing germ cell tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl germ cell neoplasm|germ cells tumors|tumor of germ cell|tumor of the germ cell|neoplasm of the germ cell|germ cell tumour|neoplasm of germ cell|germ cell tumor|germ cell cancer NCIT:C3708|UMLS:C0205851|DOID:2994|EFO:0000514|GARD:0013022 owl:Class MONDO:0100018 biolink:NamedThing adult onset pityriasis rubra pilaris A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life. tmpak2llvmy_mondo_relaxed.owl adult onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0100017 biolink:NamedThing pityriasis rubra pilaris A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). tmpak2llvmy_mondo_relaxed.owl NCIT:C85014|ICD9:696.4|ICD10:L44.0|UMLS:C0032027|GARD:0007401|SCTID:3755001|DOID:9212|MESH:D010916 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470|https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris owl:Class UBERON:0009889 biolink:NamedThing secondary heart field A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract). tmpak2llvmy_mondo_relaxed.owl second heart field|anterior/second heart field|SHF|anterior heart field owl:Class UBERON:0002050 biolink:NamedThing embryonic structure Anatomical structure that is part of an embryo. tmpak2llvmy_mondo_relaxed.owl developing embryonic structure|developing structure|embryonic anatomical structure|embryonic structures|embryonale Struktur owl:Class MONDO:0005772 biolink:NamedThing geotrichosis Infection due to the fungus Geotrichum. tmpak2llvmy_mondo_relaxed.owl UMLS:C0017455|ICD9:117.9|ICD10:B48.3|EFO:0007284|DOID:2832|MESH:D005847|SCTID:13969006 owl:Class MONDO:0002312 biolink:NamedThing opportunistic mycosis A mycosis that arises from infection in an immunologically compromised host. tmpak2llvmy_mondo_relaxed.owl opportunistic systemic mycoses|opportunistic mycoses ICD9:117.9|ICD9:118|UMLS:C0029119|DOID:2473|SCTID:78999002 owl:Class MONDO:0004248 biolink:NamedThing pediatric infratentorial ependymoma An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood infratentorial ependymoma|pediatric infratentorial ependymoma|infratentorial ependymoma DOID:7501|UMLS:C0278599|NCIT:C9041 owl:Class MONDO:0002915 biolink:NamedThing childhood infratentorial neoplasm A neoplasm that affects the infratentorial region of the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric infratentorial neoplasm|childhood infratentorial neoplasm|pediatric infratentorial tumor|childhood infratentorial tumors|infratentorial neoplasm of childhood|childhood infratentorial tumor|childhood infratentorial neoplasms NCIT:C5802|UMLS:C1332973|DOID:4207 owl:Class HGNC:14881 biolink:NamedThing ZEB2 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000248 biolink:NamedThing sequence_length_alteration A kind of kind of sequence alteration where the copies of a region present varies across a population. tmpak2llvmy_mondo_relaxed.owl sequence length alteration owl:Class SO:0001059 biolink:NamedThing sequence_alteration A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. tmpak2llvmy_mondo_relaxed.owl partially_characterised_change_in_DNA_sequence|uncharacterised_change_in_nucleotide_sequence|INSDC_note:sequence_alteration|INSDC_feature:misc_feature|sequence alteration|INSDC_feature:variation|partially characterised change in DNA sequence|sequence variation owl:Class HGNC:2954 biolink:NamedThing DNAI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008509 biolink:NamedThing distal symphalangism Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. tmpak2llvmy_mondo_relaxed.owl distal symphalangism|distal symphalangism (disease)|Sym2|symphalangism, distal distal symphalangism (disease) HP:0100263|Orphanet:3248|ICD10:Q70.9|MESH:C566099|OMIM:185700|UMLS:C1861401 owl:Class MONDO:0017429 biolink:NamedThing joint formation defects tmpak2llvmy_mondo_relaxed.owl Orphanet:294949 owl:Class MONDO:0017163 biolink:NamedThing hemolytic disease due to fetomaternal alloimmunization tmpak2llvmy_mondo_relaxed.owl hemolytic disease of the fetus and newborn 2022-03-01 ICD10:P55.1|ICD10:P55.8|ICD10:P55.9|Orphanet:275938|ICD10:P55.0|UMLS:CN202585 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0003664 biolink:NamedThing hemolytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. tmpak2llvmy_mondo_relaxed.owl anemia, hemolytic|hemolytic anemia|anemia hemolytic ICD10:D55-D59|DOID:583|SCTID:61261009|ICD10:D55.D59|NCIT:C34376|EFO:0005558|MESH:D000743 owl:Class HsapDv:0000112 biolink:NamedThing 18-year-old human stage Adolescent stage that refers to an adolescent who is over 18 and under 19 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019007 biolink:NamedThing vaginal atresia tmpak2llvmy_mondo_relaxed.owl MedDRA:10046879|ICD10:Q52.0|Orphanet:65681|HP:0000148 owl:Class MONDO:0015932 biolink:NamedThing non-syndromic urogenital tract malformation of female A non-syndromic urogenital tract malformation that involves the female organism. tmpak2llvmy_mondo_relaxed.owl female organism non-syndromic urogenital tract malformation|nonsyndromic urogenital tract malformation of female|isolated urogenital tract malformation of female|non-syndromic urogenital tract malformation of female organism Orphanet:182117 owl:Class MONDO:0011659 biolink:NamedThing heterotaxy, visceral, 3, autosomal tmpak2llvmy_mondo_relaxed.owl HTX3|heterotaxy, visceral, 3, autosomal OMIM:606325|MESH:C565237|UMLS:C1853444 owl:Class MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. tmpak2llvmy_mondo_relaxed.owl situs ambiguus|visceral heterotaxy|heterotaxy syndrome|heterotaxia syndrome|lateralization defect|heterotaxy, visceral|heterotaxia NCIT:C117273|DOID:0050545|OMIMPS:306955|MedDRA:10067265|Orphanet:450|UMLS:C3178805|EFO:0009081|ICD10:Q89.3 owl:Class MONDO:0100392 biolink:NamedThing acute myeloid leukemia, t(11;17) Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;17) owl:Class UBERON:0010551 biolink:NamedThing pedal digit 5 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|toe 5 metatarsal pre-cartilage condensation owl:Class UBERON:0010687 biolink:NamedThing pedal digit metatarsal pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl hind limb digit metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation|metatarsal pre-cartilage condensation|metatarsus pre-cartilage condensation|foot digit metatarsal pre-cartilage condensation owl:Class PATO:0001739 biolink:NamedThing radiation quality A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. tmpak2llvmy_mondo_relaxed.owl relational physical quality owl:Class MONDO:0002184 biolink:NamedThing drug-induced hepatitis Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. tmpak2llvmy_mondo_relaxed.owl drug-induced chronic hepatitis SCTID:235889003|DOID:2044|EFO:1000905 owl:Class MONDO:0005359 biolink:NamedThing drug-induced liver injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. tmpak2llvmy_mondo_relaxed.owl drug-induced disorder of liver|drug induced hepatotoxicity MESH:D056486|EFO:0004228|SCTID:197352008 owl:Class GO:0046189 biolink:NamedThing phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl phenol-containing compound biosynthesis|phenol-containing compound formation|phenol-containing compound anabolism|phenol-containing compound synthesis owl:Class GO:0019438 biolink:NamedThing aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl aromatic compound formation|aromatic compound anabolism|aromatic hydrocarbon biosynthetic process|aromatic hydrocarbon biosynthesis|aromatic compound synthesis|aromatic compound biosynthesis owl:Class MONDO:0013021 biolink:NamedThing sterile multifocal osteomyelitis with periostitis and pustulosis An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. tmpak2llvmy_mondo_relaxed.owl DIRA|deficiency of interleukin-1 receptor antagonist|Interleukin-1 receptor antagonist deficiency|OMPP|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of the Interleukin-1 receptor antagonist|Interleukin 1 receptor antagonist deficiency Orphanet:210115|OMIM:612852|UMLS:C2748507|NCIT:C119056|MESH:C557815|GARD:0010516 owl:Class MONDO:0017954 biolink:NamedThing pyogenic autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204100|Orphanet:324927 owl:Class MONDO:0018913 biolink:NamedThing malakoplakia Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. tmpak2llvmy_mondo_relaxed.owl malacoplakia NCIT:C84833|SCTID:716766007|EFO:1001807|GARD:0006960|Orphanet:556|MESH:D008287 https://rarediseases.info.nih.gov/diseases/6960/malakoplakia owl:Class MONDO:0004377 biolink:NamedThing pancreatic non-functioning delta cell tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functioning pancreatic Delta cell tumor|non-functional pancreatic Delta cell NET NCIT:C28333|UMLS:C1335311|DOID:7840 owl:Class MONDO:0002994 biolink:NamedThing pancreatic delta cell neuroendocrine tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). tmpak2llvmy_mondo_relaxed.owl pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET|pancreatic delta cell neoplasm NCIT:C28396|DOID:4433|UMLS:C1335301 owl:Class CHEBI:46195 biolink:NamedThing paracetamol A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group. tmpak2llvmy_mondo_relaxed.owl N-(4-hydroxyphenyl)acetamide|p-acetaminophenol|Acetaminophen|4'-hydroxyacetanilide|p-Acetylaminophenol|Paracetamol|4-acetamidophenol|paracetamol|Acenol|acetaminophene|N-acetyl-p-aminophenol|acetaminofen|4-(Acetylamino)phenol|Tylenol|p-hydroxyphenolacetamide|Acetaminofen|APAP|paracetamolum|p-hydroxyacetanilide|p-acetamidophenol|Panadol owl:Class CHEBI:22160 biolink:NamedThing acetamides Compounds with the general formula RNHC(=O)CH3. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002086 biolink:NamedThing clear cell acanthoma An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. tmpak2llvmy_mondo_relaxed.owl clear cell acanthoma (morphologic abnormality)|Degos acanthoma|pale (clear cell) acanthoma SCTID:254670002|UMLS:C0333992|NCIT:C97041|DOID:172 owl:Class MONDO:0002093 biolink:NamedThing acanthoma A benign skin neoplasm composed of epithelial cells. tmpak2llvmy_mondo_relaxed.owl acanthoma (disease)|acanthoma acanthoma (disease) UMLS:C0846967|NCIT:C7419|MESH:D049309|HP:0025432|GARD:0008604|DOID:174 owl:Class UBERON:0006635 biolink:NamedThing anterior abdominal wall The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). tmpak2llvmy_mondo_relaxed.owl ventral abdominal wall owl:Class UBERON:0000475 biolink:NamedThing organism subdivision Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. tmpak2llvmy_mondo_relaxed.owl body region|body part|cardinal body part|anatomic region owl:Class GO:0010822 biolink:NamedThing positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpak2llvmy_mondo_relaxed.owl positive regulation of mitochondrion organisation owl:Class MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. tmpak2llvmy_mondo_relaxed.owl Fabry's disease|Anderson-Fabry disease|Fabry disease|Fabry disease, Cardiac variant|angiokeratoma corporis diffusum|deficiency of melibiase|ceramide trihexosidase deficiency|Alpha-galactosidase A deficiency|Fd|angiokeratoma, diffuse|hereditary dystopic lipidosis|alpha galactosidase deficiency|Gla deficiency|diffuse angiokeratoma ICD10:E75.2|UMLS:C0002986|NCIT:C84701|DOID:14499|ICD10:E75.21|GARD:0006400|OMIM:301500|MedDRA:10016016|MESH:D000795|Orphanet:324|SCTID:16652001 owl:Class MONDO:0020279 biolink:NamedThing metabolic disease with corneal opacity tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98711|UMLS:CN207082 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class HGNC:2889 biolink:NamedThing DISC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002347 biolink:NamedThing thoracic vertebra A thoracic vertebra endochondral element that is composed primarily of a bone tissue. tmpak2llvmy_mondo_relaxed.owl thorax vertebra|vertebra thoracica|dorsal vertebra|vertebra of thorax owl:Class UBERON:0004247 biolink:NamedThing bone of dorsum A bone that is part of the dorsal region of an animal. tmpak2llvmy_mondo_relaxed.owl back bone|dorsal region bone|bone of back owl:Class HGNC:18971 biolink:NamedThing AP1S3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012425 biolink:NamedThing striated border microvillus layer A microvillus layer that is striated and found in the intestine. tmpak2llvmy_mondo_relaxed.owl striated border owl:Class HGNC:25994 biolink:NamedThing NSUN2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004118 biolink:NamedThing vasculature of iris A vasculature that is part of a iris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl iris blood vessels|iris vasculature|vascular network of iris|iris vascular network owl:Class UBERON:0002203 biolink:NamedThing vasculature of eye Vasculature that is part of the eye region. tmpak2llvmy_mondo_relaxed.owl optic vasculature|eye vascular network|ocular vasculature|ocular blood vessel|vascular network of eye|eye vasculature owl:Class MONDO:0012267 biolink:NamedThing holoprosencephaly 8 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. tmpak2llvmy_mondo_relaxed.owl HPE8|holoprosencephaly 8|holoprosencephaly type 8 UMLS:C1836254|DOID:0110879|OMIM:609408|MESH:C563723 owl:Class MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly sequence|HPE GARD:0006665|Orphanet:2162|SCTID:30915001|OMIMPS:236100|MESH:D016142|ICD10:Q04.2|UMLS:C0079541|MedDRA:10056304|NCIT:C74988|DOID:4621 https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly owl:Class MONDO:0013227 biolink:NamedThing congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. tmpak2llvmy_mondo_relaxed.owl plasminogen activator INHIBITOR-1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|congenital PAI-1 deficiency|congenital plasminogen activator inhibitor type 1 deficiency NCIT:C133884|GARD:0004381|Orphanet:465|ICD10:D68.8|SCTID:717407006|MESH:C567640|OMIM:613329 owl:Class MONDO:0002242 biolink:NamedThing coagulation protein disease Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. tmpak2llvmy_mondo_relaxed.owl coagulation factor deficiency syndrome|coagulation factor deficiency NCIT:C27215|DOID:2212|SCTID:86075001|UMLS:C0600503|MESH:D020147 owl:Class PATO:0001501 biolink:NamedThing immature A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. tmpak2llvmy_mondo_relaxed.owl underdeveloped owl:Class PATO:0000261 biolink:NamedThing maturity A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013753 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2P Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. tmpak2llvmy_mondo_relaxed.owl Charcot Marie Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, type 2G|CMT2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth neuropathy type 2P|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth neuropathy, type 2P|CMT2P|CMT 2G|LRSAM1 Charcot-Marie-Tooth disease UMLS:C3280797|GARD:0012435|GARD:0009195|Orphanet:300319|OMIM:614436|UMLS:C4304674|OMIM:608591|DOID:0110169|Orphanet:99941|UMLS:C1837805|ICD10:G60.0|SCTID:719511005 https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p owl:Class MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. tmpak2llvmy_mondo_relaxed.owl autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|CMT2|hereditary motor and sensory neuropathy Guadalajara neuronal type|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy Okinawa type|hereditary motor and sensory neuropathy type 2 SCTID:715665006|DOID:0050539|ICD10:G60.0|GARD:0012431|ICD9:356.0|Orphanet:64746 owl:Class MONDO:0003402 biolink:NamedThing testicular yolk sac tumor A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. tmpak2llvmy_mondo_relaxed.owl yolk Sac neoplasm of testis|endodermal sinus tumor of the testis|endodermal sinus neoplasm of testis|endodermal sinus tumor of testis|testicular yolk sac tumor|testis yolk sac tumor|testicular yolk Sac neoplasm|testicular endodermal sinus neoplasm|yolk Sac neoplasm of the testis|testicular endodermal sinus tumor|Orchidoblastoma|yolk Sac tumor of testis|endodermal sinus neoplasm of the testis|yolk sac tumor|endodermal-sinus tumor|yolk Sac tumor of the testis NCIT:C8000|EFO:1000574|GARD:0000348|ONCOTREE:TYST|DOID:5344|UMLS:C0279708 owl:Class MONDO:0005744 biolink:NamedThing yolk sac tumor A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. tmpak2llvmy_mondo_relaxed.owl infantile embryonal carcinoma|yolk Sac tumor|yolk Sac tumor site unspecified|yolk Sac tumour site unspecified|hepatoid yolk sac tumour|endodermal sinus tumor|yolk SAC tumor, malignant|yolk sac tumor|yolk Sac neoplasm|endodermal sinus neoplasm SCTID:404081005|Orphanet:876|ONCOTREE:BYST|ICD10:C62.9|ICD10:C56|ICDO:9071/3|UMLS:C0014145|MedDRA:10048251|EFO:0007252|NCIT:C3011|DOID:1911 owl:Class GO:0050714 biolink:NamedThing positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. tmpak2llvmy_mondo_relaxed.owl up regulation of protein secretion|up-regulation of protein secretion|upregulation of protein secretion|stimulation of protein secretion|activation of protein secretion owl:Class GO:1903532 biolink:NamedThing positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. tmpak2llvmy_mondo_relaxed.owl up regulation of secretion by cell|activation of secretion by cell|up-regulation of secretion by cell|up regulation of cellular secretion|upregulation of cellular secretion|upregulation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|positive regulation of cellular secretion owl:Class GO:0030155 biolink:NamedThing regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. tmpak2llvmy_mondo_relaxed.owl cell adhesion receptor regulator activity owl:Class MONDO:0004554 biolink:NamedThing childhood kidney angiomyolipoma An angiomyolipoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma|childhood renal angiomyolipoma|kidney angiomyolipoma of childhood DOID:8410|UMLS:C1333000|NCIT:C6565 owl:Class MONDO:0002730 biolink:NamedThing childhood kidney neoplasm A kidney neoplasm that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood renal tumor|pediatric kidney neoplasm|pediatric renal tumor|childhood kidney tumor|pediatric renal neoplasm|childhood renal neoplasm|pediatric kidney tumor|kidney neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm UMLS:C1333003|DOID:3675|NCIT:C6563 owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. tmpak2llvmy_mondo_relaxed.owl Malformation of the periorbital region|Anomaly of the periorbital region|Abnormality of the region around the eye|Deformity of the periorbital region|Abnormality of the region around the eye socket UMLS:C4025837 human_phenotype owl:Class HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. tmpak2llvmy_mondo_relaxed.owl Abnormality of the visage|Anomaly of the face|Facial anomaly|Facial abnormality|Abnormal face|Disorder of face|Anomaly of face|Abnormality of the physiognomy|Abnormality of the face|Abnormality of the countenance|Disorder of the face SNOMEDCT_US:118930001|UMLS:C0266617|UMLS:C1290857|SNOMEDCT_US:398302004|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|UMLS:C4025871 human_phenotype owl:Class MONDO:0004351 biolink:NamedThing intraocular lymphoma A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. tmpak2llvmy_mondo_relaxed.owl primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma|intraocular lymphoma|PIOL DOID:775|SCTID:420788006|MESH:D064090|ICD10:C85,7|Orphanet:279904|ICD9:200.50|NCIT:C9184 MONDO:0017206 owl:Class MONDO:0004034 biolink:NamedThing eye lymphoma A lymphoma that involves the eye. tmpak2llvmy_mondo_relaxed.owl eyeball of camera-type eye lymphoma|eye lymphoma|primary eye lymphoma|lymphoma of eyeball of camera-type eye DOID:6903|UMLS:C1333519|NCIT:C35690 owl:Class MONDO:0021348 biolink:NamedThing neoplasm of testis A neoplasm (disease) that involves the testis. tmpak2llvmy_mondo_relaxed.owl testicular tumor|neoplasm of the testis|testis neoplasm (disease)|testis tumor|tumor of the testis|neoplasm of testis|testicular neoplasm|tumor of testis|testis neoplasm EFO:0004281|NCIT:C3404|ICD9:239.5|SCTID:126900000|ONCOTREE:TESTIS owl:Class MONDO:0002329 biolink:NamedThing testicular disease A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. tmpak2llvmy_mondo_relaxed.owl disease or disorder of testis|disorder of testis|testicular disorder|disease of testis|testicular disease|testis disorder|testis disease|testis disease or disorder DOID:2519|SCTID:64910008|NCIT:C26890|ICD9:608.89|UMLS:C0039584|MESH:D013733 owl:Class GO:1903060 biolink:NamedThing negative regulation of protein lipidation Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation. tmpak2llvmy_mondo_relaxed.owl down regulation of protein lipidation|down regulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|inhibition of protein lipidation|down-regulation of lipid:protein modification|inhibition of protein amino acid lipidation|inhibition of lipid:protein modification|negative regulation of protein amino acid lipidation|downregulation of protein amino acid lipidation|negative regulation of lipid:protein modification|downregulation of protein lipidation|down-regulation of protein lipidation|down regulation of lipid:protein modification|downregulation of lipid:protein modification owl:Class GO:1903059 biolink:NamedThing regulation of protein lipidation Any process that modulates the frequency, rate or extent of protein lipidation. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid lipidation|regulation of lipid:protein modification owl:Class MONDO:0009740 biolink:NamedThing neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. tmpak2llvmy_mondo_relaxed.owl Nfdr syndrome|Freire-Maia Pinheiro Opitz syndrome|neurofaciodigitorenal syndrome|Freire Maia-Pinheiro-Opitz syndrome ICD10:Q87.8|UMLS:C0796088|GARD:0003964|OMIM:256690|MESH:C537388|SCTID:725908007|Orphanet:2673 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome owl:Class MONDO:0017234 biolink:NamedThing inherited prion disease An instance of prion disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial prion disease|hereditary prion disease ICD10:A81.8|UMLS:CN202725|Orphanet:280400 owl:Class MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. tmpak2llvmy_mondo_relaxed.owl hereditary neurodegenerative disorder|genetic neurodegenerative disease|hereditary neurodegenerative disease Orphanet:183500|NCIT:C97073|UMLS:C3273225|UMLS:CN200549|MESH:D020271 owl:Class MONDO:0002806 biolink:NamedThing bronchogenic carcinoma A lung carcinoma arising from the bronchial epithelium. tmpak2llvmy_mondo_relaxed.owl carcinoma of bronchus|bronchogenic lung carcinoma|carcinoma, bronchial, malignant|bronchogenic carcinoma|bronchial carcinoma|BC - bronchogenic carcinoma|bronchus carcinoma|bronchogenic lung cancer|bronchiogenic carcinoma ICD9:162.9|EFO:1001942|SCTID:254622008|CSP:2017-6052|NCIT:C35875|DOID:3904|UMLS:C0007121|MESH:D002283 owl:Class MONDO:0014171 biolink:NamedThing complex cortical dysplasia with other brain malformations 4 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. tmpak2llvmy_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 4|CDCBM4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|cortical dysplasia, complex, with other brain malformations 4|cortical dysplasia, Complex, with Other brain malformations type 4|TUBG1 complex cortical dysplasia with other brain malformations OMIM:615412|UMLS:C3809420|DOID:0090138 owl:Class MONDO:0000904 biolink:NamedThing complex cortical dysplasia with other brain malformations tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations|complex cortical dysplasia with other brain malformations|CDCBM UMLS:CN228165|DOID:0090131|OMIMPS:614039 owl:Class MONDO:0010495 biolink:NamedThing trichothiodystrophy 5, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy 5, nonphotosensitive|TTD5|RNF113A nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A UMLS:C4225420|OMIM:300953 owl:Class MONDO:0018053 biolink:NamedThing trichothiodystrophy Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy syndrome OMIMPS:601675|ICD10:L67.8|Orphanet:33364|UMLS:C1955934|NCIT:C4924|SCTID:723551003|GARD:0012109|MedDRA:10044628 owl:Class GO:0016068 biolink:NamedThing type I hypersensitivity An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. tmpak2llvmy_mondo_relaxed.owl immediate hypersensitivity response owl:Class GO:0016064 biolink:NamedThing immunoglobulin mediated immune response An immune response mediated by immunoglobulins, whether cell-bound or in solution. tmpak2llvmy_mondo_relaxed.owl antibody-mediated immune response owl:Class MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). tmpak2llvmy_mondo_relaxed.owl IHPRF syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia-speech impairment-severe cognitive delay syndrome|IHPRF|infantile hypotonia-psychomotor retardation-characteristic facies syndrome Orphanet:371364|OMIMPS:615419|UMLS:CN204877|ICD10:Q87.8 owl:Class MONDO:0004071 biolink:NamedThing childhood cerebral astrocytoma An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. tmpak2llvmy_mondo_relaxed.owl telencephalon juvenile astrocytoma|childhood astrocytoma of cerebrum|telencephalon childhood astrocytic tumor|pediatric astrocytoma of cerebrum|pediatric cerebral astrocytoma|cerebral astrocytoma|childhood astrocytoma of the cerebrum|pediatric astrocytoma of the cerebrum|childhood astrocytic tumor of telencephalon|cerebral astrocytoma, childhood NCIT:C4347|DOID:7007|GARD:0009302|UMLS:C0338070 https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood owl:Class MONDO:0011372 biolink:NamedThing microcephaly with simplified gyral pattern tmpak2llvmy_mondo_relaxed.owl microcephaly with simplified gyral pattern OMIM:603802|UMLS:C1863516|MESH:C566332 owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl Hypoglycaemia|Low blood sugar MSH:D007003|UMLS:C0020615|SNOMEDCT_US:271327008|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003 HP:0003356 human_phenotype owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormality of blood glucose concentration UMLS:C4023597 peter 2011-02-21T10:41:13Z human_phenotype owl:Class GO:0010906 biolink:NamedThing regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpak2llvmy_mondo_relaxed.owl regulation of glucose metabolism owl:Class GO:0010675 biolink:NamedThing regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013700 biolink:NamedThing pancreatic triacylglycerol lipase deficiency An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. tmpak2llvmy_mondo_relaxed.owl lipase, congenital absence of pancreatic|lipase and colipase, congenital absence of pancreatic|colipase, congenital absence of pancreatic|pancreatic triglyceride lipase deficiency|pancreatic lipase deficiency|lipase and colipase, deficiency of|pancreatic colipase deficiency|PL deficiency|PNLIPD OMIM:614338|ICD10:K90.3|Orphanet:309031|UMLS:C0268240|SCTID:78960005|ICD9:277.89|NCIT:C129030 owl:Class MONDO:0017709 biolink:NamedThing disorder of lipid absorption and transport tmpak2llvmy_mondo_relaxed.owl UMLS:CN227181|Orphanet:309028 owl:Class MONDO:0021360 biolink:NamedThing tumor of parathyroid gland A neoplasm (disease) that involves the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of the parathyroid gland|neoplasm of parathyroid|tumor of parathyroid gland|tumor of parathyroid|tumor of the parathyroid gland|parathyroid gland tumor|parathyroid neoplasm|tumor of the parathyroid|neoplasm of parathyroid gland|neoplasm of the parathyroid|parathyroid tumor|parathyroid gland neoplasm|parathyroid gland neoplasm (disease) NCIT:C3313|ICD9:239.7|SCTID:127020005 owl:Class MONDO:0008387 biolink:NamedThing ring dermoid of cornea Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. tmpak2llvmy_mondo_relaxed.owl bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|Ring dermoid syndrome|RING dermoid of cornea|ring dermoid of cornea OMIM:180550|DOID:0111548|GARD:0009696|Orphanet:91481|MESH:C535684|SCTID:723499000|ICD10:D31.1|UMLS:C1867155 https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea owl:Class UBERON:0002682 biolink:NamedThing abducens nucleus Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533) tmpak2llvmy_mondo_relaxed.owl nucleus nervi abducentis|abducens motor nuclei|abducens nerve nucleus|sixth cranial nerve nucleus|abducens motor nucleus|nucleus abducens|abducens VI nucleus|motor nucleus VI|abducens nucleus proper|nucleus of abducens nerve|nVI|abducent nucleus|nucleus of abducens nerve (VI) owl:Class UBERON:0009662 biolink:NamedThing hindbrain nucleus Nucleus located within the hindbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010753 biolink:NamedThing cardiac valvular dysplasia, X-linked tmpak2llvmy_mondo_relaxed.owl cardiac valvular dysplasia, X-linked|valvular heart disease, congenital|congenital valvular dysplasia|XMVD|CVD1|myxomatous valvular dystrophy, X-linked SCTID:718128009|Orphanet:1864|GARD:0001096|OMIM:314400|MESH:C535576|Orphanet:555877|ICD10:Q24.8|DOID:0111765 https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked owl:Class MONDO:0017131 biolink:NamedThing genetic cardiac anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:271853 owl:Class CL:1001589 biolink:NamedThing duodenum glandular cell Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell. tmpak2llvmy_mondo_relaxed.owl duodenum glandular cells CALOHA:TS-1275 owl:Class CL:0000150 biolink:NamedThing glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. tmpak2llvmy_mondo_relaxed.owl FMA:86494|CALOHA:TS-2085 cell owl:Class GO:2000611 biolink:NamedThing positive regulation of thyroid hormone generation Any process that activates or increases the frequency, rate or extent of thyroid hormone generation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025556 biolink:NamedThing isocyanate induced asthma tmpak2llvmy_mondo_relaxed.owl isocyanates allergic asthma UMLS:C1321273|DOID:0040041|SCTID:404808000|ICD9:506.3 owl:Class MONDO:0004784 biolink:NamedThing allergic asthma A asthma with a basis in a pathological type I hypersensitivity reaction. tmpak2llvmy_mondo_relaxed.owl allergic form of asthma|atopic asthma|extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation ICD9:493.0|DOID:9415|ICD10:J45|UMLS:C0155877|SCTID:389145006 owl:Class MONDO:0009016 biolink:NamedThing band keratopathy The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, band-SHAPED|band-shaped keratopathy|band keratopathy DOID:11164|NCIT:C118765|MESH:C562399|ICD10:H18.42|ICD9:371.43|UMLS:C0155120|OMIM:217500|SCTID:35055000 owl:Class MONDO:0018102 biolink:NamedThing corneal dystrophy The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy (disease)|corneal dystrophy corneal dystrophy (disease) NCIT:C34513|ICD10:H18.50|HP:0001131|MESH:D003317|ICD10:H18.5|ICD9:371.5|SCTID:5587004|Orphanet:34533|MedDRA:10011005|ICD9:371.50|UMLS:C0010036|DOID:2566 Editor note: NCIT distinguishes between acquired and genetic owl:Class ECTO:7000018 biolink:NamedThing exposure to rock A exposure event involving the interaction of an exposure receptor to rock. tmpak2llvmy_mondo_relaxed.owl rock exposure owl:Class UBERON:0009881 biolink:NamedThing anterior lateral plate mesoderm tmpak2llvmy_mondo_relaxed.owl ALPM owl:Class UBERON:0005291 biolink:NamedThing embryonic tissue A portion of tissue that is part of an embryo. tmpak2llvmy_mondo_relaxed.owl portion of embryonic tissue|developing tissue owl:Class MONDO:0004879 biolink:NamedThing senile atrophy of choroid tmpak2llvmy_mondo_relaxed.owl ICD9:363.41|UMLS:C0154891|DOID:9776|SCTID:38513001 owl:Class MONDO:0004885 biolink:NamedThing choroidal sclerosis A neurodegenerative disease that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations ICD10:H31.1|ICD9:363.40|SCTID:406446000|ICD9:363.4|MESH:C535358|DOID:980|ICD10:H31.10 owl:Class MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). tmpak2llvmy_mondo_relaxed.owl Hurler syndrome|lipochondrodystrophy|severe MPS I (subtype, also known as Hurler syndrome)|MPS 1|mucopolysaccharidosis type I|MPS I|Hurler-Scheie syndrome (subtype)|mucopolysaccharidosis, type 1|Alpha-L-iduronidase deficiency|MPS I - Hurler syndrome|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|IDUA deficiency|MPSI|mucopolysaccharidosis I|iduronidase deficiency disease|Hurler syndrome (subtype)|mucopolysaccharidosis, MPS-I|MPS1|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|mucopolysaccharidosis type 1 ICD10:E76.0|NCIT:C85053|Orphanet:579|GARD:0010335|SCTID:75610003|DOID:12802|MedDRA:10056886 owl:Class MONDO:0019706 biolink:NamedThing lysosomal storage disease with skeletal involvement tmpak2llvmy_mondo_relaxed.owl dysostosis multiplex 2022-03-01 ICD9:756.9|SCTID:254069004|UMLS:CN206618|Orphanet:93448 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class MONDO:0021232 biolink:NamedThing pineal body neoplasm A neoplasm (disease) that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal tumor|neoplasm of pineal area|tumor of pineal body|pineal neoplasm|pineal region neoplasm|neoplasm of pineal body|pineal area tumor|neoplasm of the pineal region|neoplasm of the pineal area|tumor of the pineal area|pineal body neoplasm (disease)|neoplasm of pineal region|tumor of pineal region|pinealoma|pineal region tumor|tumor of pineal area|tumor of the pineal region|pineal body tumor|pineal area neoplasm ONCOTREE:PINT|NCIT:C3328 owl:Class MONDO:0003081 biolink:NamedThing thalamic disease A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. tmpak2llvmy_mondo_relaxed.owl dorsal plus ventral thalamus disease or disorder|disease or disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease|disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus UMLS:C0039726|NCIT:C85186|MESH:D013786|DOID:4662 owl:Class MONDO:0002744 biolink:NamedThing fallopian tube mucinous adenocarcinoma An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl fallopian tube mucinous adenocarcinoma NCIT:C40103|DOID:3704|UMLS:C1517119 owl:Class MONDO:0004957 biolink:NamedThing mucinous adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. tmpak2llvmy_mondo_relaxed.owl gelatinous carcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucinous adenocarcinoma|mucinuos carcinoma|mucin-producing adenocarcinoma|colloid carcinoma|mucinous carcinoma|mucoid carcinoma|mucous carcinoma|pseudomyxoma peritonei with unknown primary site|adenocarcinoma, mucinous, malignant|mucin-secreting carcinoma|CEMU|colloid adenocarcinoma|mucous adenocarcinoma|mucoid adenocarcinoma|gelatinous adenocarcinoma|mucin-secreting adenocarcinoma DOID:3030|NCIT:C26712|MESH:D002288|UMLS:C0007130|UMLS:C0334368|ONCOTREE:CEMU|ICDO:8480/3|EFO:0000197 owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpak2llvmy_mondo_relaxed.owl Fatigable weakness of limb muscles|Generalized muscle weakness due to defect at the neuromuscular junction|Myasthenia|Generalised muscle weakness due to defect at the neuromuscular junction|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction UMLS:C0947912 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0003399|HP:0100794|HP:0003428 human_phenotype owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. tmpak2llvmy_mondo_relaxed.owl Muscle weakness|Muscular weakness SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0009012|HP:0008979|HP:0002309|HP:0009061 human_phenotype owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. tmpak2llvmy_mondo_relaxed.owl Pain in stomach|Upset stomach|Gastro pain|Stomach pain|Abdominal pain|Abdominal discomfort|Gastrointestinal pain UMLS:C0000737|SNOMEDCT_US:21522001|MEDDRA:10000081|MSH:D015746 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. human_phenotype owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. tmpak2llvmy_mondo_relaxed.owl Pain SNOMEDCT_US:22253000|MSH:D010146|UMLS:C0030193 peter 2013-12-15T09:38:08Z human_phenotype owl:Class GO:0008206 biolink:NamedThing bile acid metabolic process The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. tmpak2llvmy_mondo_relaxed.owl bile acid metabolism owl:Class GO:0008202 biolink:NamedThing steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl steroid metabolism owl:Class UBERON:0010334 biolink:NamedThing maxillary process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009526 biolink:NamedThing maxillary process mesenchyme Mesenchyme that is part of a maxillary prominence. tmpak2llvmy_mondo_relaxed.owl mesenchyme of maxillary process|mesenchyme of maxillary prominence owl:Class GO:0010976 biolink:NamedThing positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpak2llvmy_mondo_relaxed.owl positive regulation of neurite formation|positive regulation of neurite development|positive regulation of neurite growth|positive regulation of neurite biosynthesis owl:Class GO:0031346 biolink:NamedThing positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpak2llvmy_mondo_relaxed.owl activation of cell projection organization|up-regulation of cell projection organization|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|positive regulation of cell projection organisation owl:Class MONDO:0006734 biolink:NamedThing benign duodenal neoplasm A non-metastasizing neoplasm arising from the wall of the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenal benign neoplasm|benign neoplasm of duodenum|benign tumor of the duodenum|duodenum benign neoplasm|neoplasm of the duodenum|benign tumor of duodenum|benign duodenal tumor|benign duodenal neoplasm|benign neoplasm of the duodenum DOID:1737|EFO:1000907|NCIT:C4775|SCTID:92080005|MedDRA:10004251 MONDO:0021504 owl:Class UBERON:0004982 biolink:NamedThing mucosa of epiglottis A mucosa that is part of a epiglottis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiglottis mucosa of organ|mucosa of organ of epiglottis|organ mucosa of epiglottis|epiglottis mucosa|mucous membrane of epiglottis|epiglottis organ mucosa|epiglottis mucous membrane owl:Class UBERON:0000344 biolink:NamedThing mucosa A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] tmpak2llvmy_mondo_relaxed.owl region of mucosa|organ mucosa|mucosa of organ|mucosal region|tunica mucosa|mucous membrane|mucosa of organ part owl:Class MONDO:0044725 biolink:NamedThing combined immunodeficiency due to GINS1 deficiency tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|IMD55|Cid due to GINS1 deficiency|immunodeficiency 55|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia OMIM:617827|UMLS:CN737162|Orphanet:505227 https://github.com/monarch-initiative/mondo/issues/3191 owl:Class MONDO:0018035 biolink:NamedThing syndrome with combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN204279|Orphanet:331217 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0005903 biolink:NamedThing pericardial tuberculosis Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. tmpak2llvmy_mondo_relaxed.owl tuberculous pericarditis ICD10:A18.84|ICD9:017.90|EFO:0007426|MESH:D010495|DOID:4962|SCTID:67256000|UMLS:C0031049 owl:Class MONDO:0005904 biolink:NamedThing pericarditis An inflammatory process affecting the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium inflammation|pericarditis (disease)|pericarditis|inflammation of pericardium pericarditis (disease) UMLS:C0031046|DOID:1787|EFO:0007427|MESH:D010493|NCIT:C34915|HP:0001701|SCTID:3238004 owl:Class MONDO:0018510 biolink:NamedThing small intestine neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl neuroendocrine neoplasm of the small intestine|neuroendocrine tumor of small bowel|neuroendocrine tumor of the small intestine|small intestine neuroendocrine tumor|small intestine NET|small intestinal neuroendocrine neoplasm|neuroendocrine neoplasm of small intestine|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|NET of the small intestine|small intestine neuroendocrine neoplasm Orphanet:423975|DOID:4434|UMLS:CN237515|NCIT:C5803|UMLS:C1336005 owl:Class MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). tmpak2llvmy_mondo_relaxed.owl APUDoma|neuroendocrine neoplasm|neuroendocrine tumor ICD9:239.7|SCTID:255046005|ICD9:209-209.99|NCIT:C3809|EFO:1001901|Orphanet:877|ICD10:D3A.8|DOID:169|MESH:D018358|UMLS:CN206284|UMLS:C0206754|UMLS:C0003650|ICD9:209 Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass owl:Class MONDO:0001537 biolink:NamedThing tuberculous epididymitis An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. tmpak2llvmy_mondo_relaxed.owl SCTID:83652003|ICD9:016.42|UMLS:C0152814|ICD9:016.40|ICD9:016.4|DOID:1251|ICD9:016.41|ICD9:016.46 owl:Class MONDO:0006845 biolink:NamedThing male genital tuberculosis Mycobacterium infections of the male reproductive tract (genitalia, male). tmpak2llvmy_mondo_relaxed.owl Tuberculoses, Male genital|genital Tuberculoses, Male|Male genital Tuberculoses|genital tuberculosis, Male|male reproductive system tuberculosis|male genital tuberculosis EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317|SCTID:240379005 owl:Class MONDO:0016923 biolink:NamedThing partial duplication of chromosome 3 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 3|partial trisomy of chromosome 3 SCTID:726341009|Orphanet:262201 owl:Class MONDO:0020052 biolink:NamedThing partial autosomal trisomy/tetrasomy tmpak2llvmy_mondo_relaxed.owl Orphanet:98132 owl:Class CL:1000467 biolink:NamedThing chromaffin cell of left ovary A chromaffin cell that is part of the left ovary. tmpak2llvmy_mondo_relaxed.owl FMA:74321 cell owl:Class CL:0000166 biolink:NamedThing chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl phaeochromocyte BTO:0000259|FMA:69263 cell owl:Class GO:0002888 biolink:NamedThing positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl upregulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity owl:Class GO:0002886 biolink:NamedThing regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006577 biolink:NamedThing maxillary sinus cholesteatoma A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. tmpak2llvmy_mondo_relaxed.owl maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus DOID:867|EFO:1000731|NCIT:C35868|UMLS:C1334644 owl:Class MONDO:0001735 biolink:NamedThing paranasal sinus disease A disease involving the paranasal sinus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of paranasal sinus|disorder of nasal sinus|paranasal sinus disease|paranasal sinus disorder|paranasal sinus disease or disorder|disorder of paranasal sinus|sinus disorder|disease of paranasal sinus UMLS:C0030469|DOID:1352|NCIT:C26843|ICD9:478.1|SCTID:7393007|MESH:D010254 owl:Class MONDO:0009823 biolink:NamedThing primary hyperoxaluria type 1 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. tmpak2llvmy_mondo_relaxed.owl serine:pyruvate aminotransferase deficiency|primary hyperoxaluria type I|glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|AGXT primary hyperoxaluria|primary hyperoxaluria type 1|peroxisomal alanine glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type I|PH1|alanine-glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type 1|Oxalosis 1|HP1|hepatic AGT deficiency|serine pyruvate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT NCIT:C123212|DOID:0111670|UMLS:C0268164|Orphanet:93598|GARD:0002835|SCTID:65520001|ICD9:271.8|ICD10:E74.8|MESH:C536414|OMIM:259900 https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0002474 biolink:NamedThing primary hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. tmpak2llvmy_mondo_relaxed.owl hyperoxaluria, primary|primary hyperoxaluria OMIMPS:259900|ICD10:E72.53|Orphanet:416|ICD9:271.8|DOID:2977|ICD10:E74.8|SCTID:17901006|UMLS:C0020501|MedDRA:10020703|MESH:D006960|NCIT:C123158 owl:Class MONDO:0004837 biolink:NamedThing neurofibroma of the esophagus A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpak2llvmy_mondo_relaxed.owl neurofibroma of esophagus|esophageal neurofibroma|esophagus neurofibroma|neurofibroma of the esophagus NCIT:C5704|UMLS:C1333463|DOID:961 owl:Class MONDO:0021355 biolink:NamedThing neoplasm of esophagus A neoplasm (disease) that involves the esophagus. tmpak2llvmy_mondo_relaxed.owl esophageal tumors|tumor of the esophagus|neoplasm of the esophagus|esophagus neoplasm|neoplasm of esophagus|esophageal neoplasm|esophageal neoplasms, benign and malignant|esophageal tumor|esophagus neoplasm (disease)|esophagus tumor|tumor of esophagus NCIT:C3028|UMLS:C0014859|SCTID:126817006 owl:Class MONDO:0010225 biolink:NamedThing Dent disease type 1 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. tmpak2llvmy_mondo_relaxed.owl urolithiasis, hypercalciuric, X-linked|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|Dent disease type 1|DENT disease 1|nephrolithiasis type 1|nephrolithiasis 2 UMLS:C4305530|OMIM:300009|UMLS:CN206679|Orphanet:93622|SCTID:717789008|ICD10:N25.8 owl:Class MONDO:0015612 biolink:NamedThing Dent disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. tmpak2llvmy_mondo_relaxed.owl Dent disease 1|Dent disease 2|Dents disease|X-linked recessive nephrolithiasis|X-linked recessive hypercalciuric hypophosphatemic rickets|Dent's disease|X-linked recessive hypophosphatemic rickets|renal Fanconi syndrome with nephrocalcinosis and renal stones|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|Dent syndrome MedDRA:10069199|NCIT:C123260|UMLS:CN239269|ICD10:N25.8|SCTID:444645005|GARD:0013105|MESH:D057973|OMIMPS:300009|Orphanet:1652|UMLS:C0878681|DOID:0050699 owl:Class MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. tmpak2llvmy_mondo_relaxed.owl intervertebral Disc degenerative disorder|intervertebral Disc Degeneration|vertebral disc disease|intervertebral Disc degenerative disease|vertebral Disc degenerative disorder|intervertebral disk degenerative disorder|lumbar disc degeneration|vertebral Disc degenerative disease|cervical disc degenerative disease|degenerative disorder of intervertebral disk|intervertebral disc disease|intervertebral disc degeneration|degenerative disc disease|IDD NCIT:C26983|SCTID:77547008|MESH:D055959|DOID:90|UMLS:C0158266|ICD9:722.6 owl:Class MONDO:0000812 biolink:NamedThing vertebral column disease A disease involving the vertebral column. tmpak2llvmy_mondo_relaxed.owl disease of spine|disorder of vertebral column|spinal disease|vertebral column disease or disorder|disease or disorder of vertebral column|vertebral column disease|disease of vertebral column DOID:0060564|ICD9:724.9|MESH:D013122|SCTID:699699005|UMLS:C0037933 owl:Class MONDO:0018315 biolink:NamedThing X-linked osteoporosis with fractures tmpak2llvmy_mondo_relaxed.owl Orphanet:391330|ICD10:M80.5 owl:Class MONDO:0004962 biolink:NamedThing stage II endometrioid carcinoma Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. tmpak2llvmy_mondo_relaxed.owl EFO:0000206 owl:Class MONDO:0005026 biolink:NamedThing endometrioid adenocarcinoma An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. tmpak2llvmy_mondo_relaxed.owl endometrioid carcinoma of female reproductive system|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma|endometrioid adenocarcinoma ICDO:8380/3|EFO:0000466|UMLS:C1569637|UMLS:C0206687|NCIT:C3769 owl:Class MONDO:0030004 biolink:NamedThing autism, susceptibility to, 20 tmpak2llvmy_mondo_relaxed.owl AUTISM, SUSCEPTIBILITY TO, 20|AUTS20|autism, susceptibility to, 20 OMIM:618830 owl:Class MONDO:0020573 biolink:NamedThing inherited disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. tmpak2llvmy_mondo_relaxed.owl genetic predisposition|predisposition, genetic|hereditary predisposition to disease|susceptibilities, genetic|genetic susceptibility|susceptibility, genetic|genetic susceptibilities|hereditary disease susceptibility|predispositions, genetic|genetic predispositions MESH:D020022 cjm 2017-09-30T12:01:25Z owl:Class GO:1902491 biolink:NamedThing negative regulation of sperm capacitation Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. tmpak2llvmy_mondo_relaxed.owl down regulation of sperm activation|inhibition of sperm activation|inhibition of sperm capacitation|downregulation of sperm activation|negative regulation of sperm activation|down-regulation of sperm capacitation|down regulation of sperm capacitation|down-regulation of sperm activation|downregulation of sperm capacitation owl:Class UBERON:0003705 biolink:NamedThing Meckel's diverticulum A small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct tmpak2llvmy_mondo_relaxed.owl ileal diverticulum|Meckels diverticulum|meckel diverticulum|diverticulum of Meckel|Meckel's diverticulum owl:Class UBERON:0006590 biolink:NamedThing remnant of embryonic structure A vestigial structure that is a remnant of an embryonic structure that remains in the adult organism. tmpak2llvmy_mondo_relaxed.owl vestigial embryonic structure owl:Class MONDO:0019520 biolink:NamedThing syndromic lymphedema A lymphedema that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with lymphedema|syndromic lymphedema UMLS:CN227645|Orphanet:89832 owl:Class MONDO:0019297 biolink:NamedThing lymphedema Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. tmpak2llvmy_mondo_relaxed.owl lymphatic edema (morphologic abnormality)|lymphatic edema|lymphoedema MedDRA:10025282|ICD9:457.1|UMLS:C0024236|DOID:4977|MESH:D008209|Orphanet:79383|GARD:0012563|SCTID:234097001|NCIT:C3207 owl:Class GO:0090285 biolink:NamedThing negative regulation of protein glycosylation in Golgi Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein amino acid glycosylation in Golgi owl:Class MONDO:0021275 biolink:NamedThing papilloma of eyelid A papilloma that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid papilloma|papilloma of the eyelid SCTID:314515006|NCIT:C4061|UMLS:C1142491 owl:Class MONDO:0002536 biolink:NamedThing skin papilloma A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin. tmpak2llvmy_mondo_relaxed.owl papilloma of skin|papilloma of the skin|zone of skin papilloma|basosquamous tumor, benign|cutaneous papilloma|skin papilloma DOID:3178|UMLS:C0347390|SCTID:255184001|NCIT:C4614 owl:Class MONDO:0014986 biolink:NamedThing Fanconi anemia complementation group R Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi Anemia, complementation group R|Fanconi anemia complementation group type R|Fanconi anemia, complementation GROUP R|RAD51 Fanconi anemia|Fanconi anemia caused by mutation in RAD51|FANCR|Fanconi Anemia, complementation group type R UMLS:C4284093|OMIM:617244|DOID:0111090 owl:Class MONDO:0019391 biolink:NamedThing Fanconi anemia Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. tmpak2llvmy_mondo_relaxed.owl Panmyelopathy, Fanconi|Fanconi's anemia|Fanconi pancytopenia|pancytopenia, congenital|Fanconi anemia|primary erythroid hypoplasia|Fanconi panmyelopathy Orphanet:84|UMLS:C0015625|MESH:D005199|NCIT:C62505|DOID:13636|SCTID:30575002|GARD:0006425|OMIMPS:227650|MedDRA:10055206|ICD9:284.09|ICD10:D61.09|ICD10:D61.0 owl:Class GO:1902572 biolink:NamedThing negative regulation of serine-type peptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity. tmpak2llvmy_mondo_relaxed.owl down regulation of serine-type peptidase activity|inhibition of serine protease activity|down-regulation of serine-type peptidase activity|negative regulation of serine protease activity|inhibition of serine-type peptidase activity|downregulation of serine-type peptidase activity|down-regulation of serine protease activity|down regulation of serine protease activity|downregulation of serine protease activity owl:Class GO:0010466 biolink:NamedThing negative regulation of peptidase activity Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20670 biolink:NamedThing TWIST2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007340 biolink:NamedThing cleidocranial dysplasia Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. tmpak2llvmy_mondo_relaxed.owl cleidocranial dysplasia, forme fruste, dental anomalies only|cleidocranial dysplasia|cleidocranial dysplasia, forme fruste, with brachydactyly|CCD|cleidocranial dysostosis|Marie-Sainton disease|CLCD|dysplasia cleidocranial Orphanet:1452|OMIM:119600|ICD10:Q74.0|SCTID:65976001|ICD9:755.59|NCIT:C75020|DOID:13994|GARD:0006118|MESH:D002973|UMLS:C0008928 owl:Class MONDO:0020018 biolink:NamedThing cranial malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98038 owl:Class MONDO:0006405 biolink:NamedThing salivary gland small cell carcinoma An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. tmpak2llvmy_mondo_relaxed.owl neuroendocrine carcinoma of the salivary gland|small cell salivary gland carcinoma|salivary gland anaplastic small cell carcinoma|neuroendocrine carcinoma of salivary gland|anaplastic small cell carcinoma of salivary gland|anaplastic small cell carcinoma of the salivary gland|saliva-secreting gland small cell carcinoma|salivary gland small cell carcinoma|salivary gland neuroendocrine carcinoma|small cell carcinoma of saliva-secreting gland UMLS:C1335982|NCIT:C35703|EFO:1000519 owl:Class MONDO:0024503 biolink:NamedThing digestive system neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). tmpak2llvmy_mondo_relaxed.owl alimentary part of gastrointestinal system NET|carcinoid tumor|gastrointestinal neuroendocrine neoplasm|digestive system neuroendocrine neoplasm|alimentary part of gastrointestinal system neuroendocrine neoplasm|alimentary part of gastrointestinal system neuroendocrine tumor|neuroendocrine neoplasm of digestive system|gastro-enteropancreatic neuroendocrine tumor|GEP-NET|GEP-NEN|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|GEP tumors|gastroenteropancreatic neuroendocrine neoplasm|carcinoid tumor of digestive system|neuroendocrine neoplasm of alimentary part of gastrointestinal system|digestive system NET|digestive system neuroendocrine tumor|gastroenteropancreatic endocrine tumor|gastrointestinal system neuroendocrine neoplasm|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100092|GARD:0002437|NCIT:C27721|UMLS:CN197371|MESH:C535650 https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor owl:Class MONDO:0009149 biolink:NamedThing ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum OMIM:225040|UMLS:C1857053|MESH:C565605|Orphanet:1812|ICD10:Q87.8 owl:Class MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia|congenital ectodermal defect|ectodermal dysplasia (select examples) SCTID:8654005|ICD9:757.31|OMIMPS:305100|NCIT:C84683|GARD:0006317|MedDRA:10010452|UMLS:C0013575|DOID:2121|Orphanet:79373|MESH:D004476 owl:Class MONDO:0001614 biolink:NamedThing intra-abdominal lymph node mast cell malignancy tmpak2llvmy_mondo_relaxed.owl malignant mast cell tumors involving intra-abdominal lymph nodes|mast cell malignancy of intra-abdominal lymph nodes SCTID:188664008|UMLS:C0153844|ICD9:202.63|DOID:13005 owl:Class MONDO:0001082 biolink:NamedThing lymph node cancer A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 tmpak2llvmy_mondo_relaxed.owl lymph node cancer|malignant lymph node neoplasm|malignant neoplasm of lymph node|lymph node neoplasm|cancer of lymph node SCTID:127232002|DOID:10619|ICD9:239.89|NCIT:C35812 owl:Class UBERON:0002059 biolink:NamedThing submandibular ganglion the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands tmpak2llvmy_mondo_relaxed.owl Blandin`s ganglion|mandibular ganglion|lingual ganglion|maxillary ganglion|ganglion submandibulare|submaxillary ganglion owl:Class UBERON:0000045 biolink:NamedThing ganglion A biological tissue mass, most commonly a mass of nerve cell bodies. tmpak2llvmy_mondo_relaxed.owl neural ganglion|ganglia owl:Class HGNC:6293 biolink:NamedThing KCNN4 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000509 biolink:NamedThing exposure to drug An exposure to drug. tmpak2llvmy_mondo_relaxed.owl exposure to drug owl:Class ECTO:0000486 biolink:NamedThing exposure to chemical with application An exposure to application. tmpak2llvmy_mondo_relaxed.owl exposure to application owl:Class MONDO:0000535 biolink:NamedThing tonsil squamous cell carcinoma A squamous cell carcinoma that involves the tonsil. tmpak2llvmy_mondo_relaxed.owl tonsil squamous cell carcinoma DOID:0050920 owl:Class MONDO:0010132 biolink:NamedThing familial thyroid dyshormonogenesis A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. tmpak2llvmy_mondo_relaxed.owl dyshormonogenesis|nongoitrous hyperthyrotropinemia|thyroid dyshormonogenesis ICD10:E03.1|ICD10:E03.0|MESH:C564766|SCTID:718183003|NCIT:C121751|UMLS:C1848805|Orphanet:95716 https://github.com/monarch-initiative/mondo/issues/642 owl:Class MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. tmpak2llvmy_mondo_relaxed.owl metabolic disease|metabolic disorder|metabolic process disease|disorder of metabolic process|disease of metabolism ICD10:E70.E90|SCTID:75934005|EFO:0000589|ICD9:277.9|UMLS:C0025517|ICD9:277.8|DOID:0014667|MESH:D008659|ICD10:E88.9|NCIT:C3235 owl:Class MONDO:0010448 biolink:NamedThing moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl syndromic Moyamoya disease|MYMY4|chromosome Xq28 deletion syndrome, 3.4-Kb|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism UMLS:C3151857|Orphanet:280679|OMIM:300845 owl:Class MONDO:0021046 biolink:NamedThing breast fibroepithelial neoplasm A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. tmpak2llvmy_mondo_relaxed.owl breast fibroepithelial tumor|breast fibroepithelial neoplasms|breast fibroepithelial neoplasm|BFN NCIT:C40405|ONCOTREE:BFN|UMLS:C1511309 owl:Class MONDO:0021100 biolink:NamedThing breast neoplasm A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. tmpak2llvmy_mondo_relaxed.owl breast tumor|neoplasm of breast|tumor of breast|neoplasm of the breast|tumor of the breast|breast neoplasm|neoplasm, breast|breast neoplasm (disease) SCTID:126926005|ICD9:239.3|MESH:D001943|NCIT:C2910|ONCOTREE:BREAST|EFO:0003869|UMLS:CN236627 owl:Class GO:0002824 biolink:NamedThing positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002822 biolink:NamedThing regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048581 biolink:NamedThing negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpak2llvmy_mondo_relaxed.owl inhibition of post-embryonic development|down regulation of post-embryonic development|downregulation of post-embryonic development|down-regulation of post-embryonic development owl:Class GO:0051093 biolink:NamedThing negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpak2llvmy_mondo_relaxed.owl downregulation of developmental process|down regulation of developmental process|down-regulation of developmental process|inhibition of developmental process owl:Class HGNC:3377 biolink:NamedThing EPB41 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003333 biolink:NamedThing amino acid transmembrane transport The process in which an amino acid is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl amino acid membrane transport owl:Class GO:0006865 biolink:NamedThing amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. tmpak2llvmy_mondo_relaxed.owl rare inborn errors of metabolism|inborn metabolic disorder|inborn error of metabolism|inborn disorders of metabolism|inherited metabolic disorder|rare inherited metabolic disorder|congenital metabolism disorder|metabolic hereditary disorder|inherited disorders of metabolism|inborn errors of metabolism|congenital metabolic disorder|rare metabolic disease|inherited disorder of metabolism|inborn metabolism disorder|hereditary metabolic disease Orphanet:68367|MESH:D008661|DOID:655|MedDRA:10062018|UMLS:C0025521|NCIT:C34816|MedDRA:10058097|SCTID:86095007 https://github.com/monarch-initiative/mondo/issues/1483 owl:Class MONDO:0010347 biolink:NamedThing intellectual disability, X-linked 84 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 84|MRX84|mental retardation, X-linked 84 OMIM:300505|UMLS:C1845297|MESH:C564501 owl:Class MONDO:0019181 biolink:NamedThing non-syndromic X-linked intellectual disability Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, nonsyndromic|isolated X-linked intellectual disability|X-linked non-syndromic intellectual disability|intellectual disability, X-linked, nonsyndromic|non-specific X-linked mental retardation|nonsyndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability|non-syndromic intellectual disability, X-linked|intellectual disability, nonsyndromic, X-linked|mental retardation, nonsyndromic, X-linked|non-specific X-linked intellectual disability|X-linked non-specific intellectual disability UMLS:C3501611|OMIMPS:309530|MESH:C564490|GARD:0003542|DOID:0050776|Orphanet:777 owl:Class MONDO:0032800 biolink:NamedThing robinow syndrome, autosomal recessive 2 tmpak2llvmy_mondo_relaxed.owl RRS2|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM:618529 owl:Class MONDO:0019978 biolink:NamedThing Robinow syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. tmpak2llvmy_mondo_relaxed.owl fetal face syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|mesomelic dwarfism-small genitalia syndrome|Robinow dwarfism|costovertebral segmentation defect with mesomelia (formerly)|Robinow-Silverman-Smith syndrome ICD10:Q87.1|OMIMPS:268310|NCIT:C85048|UMLS:CN776872|GARD:0000312|UMLS:C0265205|DOID:0060254|Orphanet:97360 owl:Class MONDO:0020111 biolink:NamedThing constitutional megaloblastic anemia due to folate metabolism disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227786|ICD10:D52.8|Orphanet:98408 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class MONDO:0001700 biolink:NamedThing megaloblastic anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. tmpak2llvmy_mondo_relaxed.owl megaloblastic anemia (disease)|RH-MGA1|IGS|MGA1 Norwegian type|recessive hereditary megaloblastic anemia 1|megaloblastic anemia|Grasbeck-Imerslund syndrome megaloblastic anemia (disease) ICD10:D53.1|ICD9:281.3|SCTID:53165003|UMLS:C0002888|DOID:13382|NCIT:C34382|HP:0001889 owl:Class MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. tmpak2llvmy_mondo_relaxed.owl myopathy, congenital, with excess of muscle spindles|CSTLO|faciocutaneoskeletal syndrome|Costello syndrome|FCS syndrome GARD:0001550|DOID:0050469|UMLS:C0587248|ICD10:Q87.8|OMIM:218040|SCTID:309776008|MESH:D056685|MedDRA:10067380|Orphanet:3071|ICD9:799.89|NCIT:C84652 https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome owl:Class HGNC:3528 biolink:NamedThing F10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011006 biolink:NamedThing hereditary spastic paraplegia 9A tmpak2llvmy_mondo_relaxed.owl spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|SPG9A|autosomal dominant spastic paraplegia 9A|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|hereditary spastic paraplegia type 9A|autosomal dominant complex spastic paraplegia type 9A|spastic paraplegia 9A, autosomal dominant|cataracts with motor neuronopathy, short stature and skeletal abnormalities|AD-SPG9A OMIM:601162|DOID:0110824|MESH:C536868|ICD10:G11.4|Orphanet:447753|UMLS:CN237701 owl:Class MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. tmpak2llvmy_mondo_relaxed.owl cataract congenital autosomal dominant GARD:0001143 https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant owl:Class UBERON:0001228 biolink:NamedThing renal papilla Tip of renal pyramid projecting into a minor calyx. tmpak2llvmy_mondo_relaxed.owl kidney papilla owl:Class UBERON:0001651 biolink:NamedThing right pulmonary artery The pulmonary artery that supplies the right lung. tmpak2llvmy_mondo_relaxed.owl arteria pulmonalis dextra|right main pulmonary artery|right pulmonary arterial tree owl:Class UBERON:0001637 biolink:NamedThing artery An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. tmpak2llvmy_mondo_relaxed.owl arterial tree organ part|arteries|arterial system|arterial vessel|arterial subtree owl:Class UBERON:0015079 biolink:NamedThing proximal carpal cartilage A proximal carpal endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015078 biolink:NamedThing proximal carpal endochondral element A proximal mesopodial endochondral element that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl proximal carpal element|proximal carpal owl:Class MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. tmpak2llvmy_mondo_relaxed.owl mitochondrial disease|mitochondrial metabolism disease|mitochondrial genetic disorders DOID:700|GARD:0007048|MESH:D028361|Orphanet:68380 https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders owl:Class GO:0060295 biolink:NamedThing regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003352 biolink:NamedThing regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl regulation of flagellar movement|regulation of microtubule-based flagellum movement|regulation of flagellum movement owl:Class GO:0006355 biolink:NamedThing regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. tmpak2llvmy_mondo_relaxed.owl regulation of cellular transcription, DNA-dependent|transcriptional control|regulation of transcription, DNA-dependent|regulation of gene-specific transcription owl:Class GO:2000112 biolink:NamedThing regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of cellular macromolecule synthesis|regulation of cellular macromolecule anabolism|regulation of cellular macromolecule biosynthesis|regulation of cellular macromolecule formation|regulation of cellular biopolymer biosynthetic process owl:Class MONDO:0012044 biolink:NamedThing corneal dystrophy, lattice type 3A Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. tmpak2llvmy_mondo_relaxed.owl lattice corneal dystrophy type 3A|CDL3A|lattice corneal dystrophy type III A|lattice corneal dystrophy, type 3A|corneal dystrophy, lattice type IIIA UMLS:C1837974|MESH:C563923|GARD:0010320|OMIM:608471 https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a owl:Class MONDO:0000764 biolink:NamedThing epithelial-stromal TGFBI dystrophy Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. tmpak2llvmy_mondo_relaxed.owl TGFBI corneal dystrophy (disease)|corneal dystrophy (disease) caused by mutation in TGFBI DOID:0060441 owl:Class ECTO:0000530 biolink:NamedThing exposure to pesticide An exposure to pesticide. tmpak2llvmy_mondo_relaxed.owl exposure to pesticide owl:Class MONDO:0020093 biolink:NamedThing autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant form of isolated diffuse palmoplantar keratoderma. tmpak2llvmy_mondo_relaxed.owl isolated diffuse palmoplantar keratoderma, autosomal dominant|autosomal dominant isolated diffuse palmoplantar hyperkeratosis ICD10:Q82.8|Orphanet:98349|UMLS:CN229268 owl:Class MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. tmpak2llvmy_mondo_relaxed.owl autosomal dominant inherited disorder|autosomal dominant hereditary disorder|autosomal dominant disease or disorder|disease or disorder, autosomal dominant|disease, autosomal dominant SCTID:11164009|ICD9:758.5|DOID:0050736|UMLS:C0265385 owl:Class UBERON:0001145 biolink:NamedThing ovarian vein A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries. tmpak2llvmy_mondo_relaxed.owl vein of female reproductive system gonada|gonad of female reproductive system vein|female reproductive system gonada vein|gonada of female reproductive system vein|vein of gonad of female reproductive system|vena ovarica dextra|female reproductive system gonad vein|ovary vein|vena ovarica sinistra|vein of ovary|vein of gonada of female reproductive system|vein of female reproductive system gonad owl:Class UBERON:0015212 biolink:NamedThing lateral structure Any structure that is placed on one side of the left-right axis of a bilaterian. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003874 biolink:NamedThing ovarian serous surface papillary adenocarcinoma A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. tmpak2llvmy_mondo_relaxed.owl ovary papillary carcinoma|serous surface papillary carcinoma of ovary|serous surface papillary carcinoma of the ovary|ovarian serous surface papillary adenocarcinoma DOID:6408|UMLS:C1335178|NCIT:C6256 owl:Class MONDO:0002512 biolink:NamedThing papillary adenocarcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl infiltrating and papillary adenocarcinoma|adenocarcinoma, papillary, malignant|infiltrating papillary adenocarcinoma|papillary adenocarcinoma NOS (morphologic abnormality)|papillary adenocarcinoma|papillary adenocarcinoma (morphologic abnormality) DOID:3112|UMLS:C0001420|ICDO:8260/3|UMLS:C1321863|NCIT:C2853|MESH:D000231 owl:Class MONDO:0017606 biolink:NamedThing facial nerve palsy due to herpes zoster infection tmpak2llvmy_mondo_relaxed.owl Hunt's syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|facial nerve palsy due to VZV|Hunt syndrome (formerly)|Ramsay Hunt syndrome|facial nerve paralysis due to VZV Orphanet:3020|ICD10:B02.2+|ICD10:G53.0*|GARD:0007525 owl:Class MONDO:0016104 biolink:NamedThing infectious disease with peripheral neuropathy An infectious process affecting the peripheral nerves. tmpak2llvmy_mondo_relaxed.owl peripheral nerve infection|peripheral nervous system infectious disorder 2022-03-01 NCIT:C27589|Orphanet:206613|UMLS:C1278821 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. tmpak2llvmy_mondo_relaxed.owl composed of|content|structure, composition|compositionality owl:Class PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. tmpak2llvmy_mondo_relaxed.owl relational structural quality|conformation owl:Class UBERON:0004182 biolink:NamedThing mammary gland cord The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis. tmpak2llvmy_mondo_relaxed.owl lactiferous gland cord|mammary sprout|mammary cord owl:Class UBERON:0034969 biolink:NamedThing epithelial layer of duct tmpak2llvmy_mondo_relaxed.owl duct epithelium|ductal epithelium owl:Class GO:0006879 biolink:NamedThing cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl iron homeostasis owl:Class GO:0055072 biolink:NamedThing iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl iron homeostasis owl:Class MONDO:0018791 biolink:NamedThing Moyomoya angiopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:477768 owl:Class MONDO:0020676 biolink:NamedThing disease of central nervous system or retinal vasculature tmpak2llvmy_mondo_relaxed.owl retina/CNS vascular disease|central nervous system or retinal vascular disease Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease owl:Class MONDO:0008753 biolink:NamedThing alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). tmpak2llvmy_mondo_relaxed.owl alcaptonuria|homogentisic acid oxidase deficiency|alkaptonuria|deficiency of homogentisicase|aku|homogentisate 1,2-dioxygenase deficiency|ochronosis, hereditary|hereditary ochronosis|alkaptonuric ochronosis|homogentisic acidura SCTID:360378009|OMIM:203500|ICD9:270.2|NCIT:C84546|UMLS:C0002066|MESH:D000474|MedDRA:10001689|ICD10:E70.29|DOID:9270|UMLS:C2931645|GARD:0005775|Orphanet:56|ICD10:E70.2 https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria owl:Class MONDO:0020203 biolink:NamedThing pigmented conjunctival lesion tmpak2llvmy_mondo_relaxed.owl Orphanet:98615 owl:Class MONDO:0015177 biolink:NamedThing metaphyseal anadysplasia Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. tmpak2llvmy_mondo_relaxed.owl early-onset regressive form of metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|Maroteaux-Verloes-Stanescu syndrome|MAD|regressive metaphyseal dysplasia ICD9:756.9|SCTID:254085009|ICD10:Q78.5|UMLS:C0432226|GARD:0003562|MESH:C537351|Orphanet:1040 https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia owl:Class MONDO:0019693 biolink:NamedThing multiple metaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.5|Orphanet:93430 owl:Class MONDO:0040677 biolink:NamedThing invasive carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. tmpak2llvmy_mondo_relaxed.owl invasive carcinoma UMLS:C1334274|NCIT:C9480 owl:Class MONDO:0004993 biolink:NamedThing carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. tmpak2llvmy_mondo_relaxed.owl epithelioma|carcinoma, malignant|malignant epithelial tumor|carcinoma|malignant epithelioma|Other carcinoma|malignant epithelial neoplasm|epithelial carcinoma|epithelioma malignant SCTID:722688002|EFO:0000313|NCIT:C2916|UMLS:C0007097|CSP:2000-1867|MESH:D002277|ICDO:8011/3|DOID:305|ICDO:8010/3 owl:Class MONDO:0006652 biolink:NamedThing anterolateral myocardial infarction Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. tmpak2llvmy_mondo_relaxed.owl myocardial infarction, anterolateral|myocardial infarctions, anteroseptal|myocardial infarctions, anterolateral|infarction, anterolateral myocardial|infarctions, anteroseptal myocardial|myocardial infarction, anteroseptal|myocardial infarction, anterior wall|anteroseptal myocardial infarctions|anteroseptal myocardial infarction|anterolateral myocardial infarction|acute anterior wall myocardial infarction|infarction, anteroseptal myocardial|anterolateral myocardial infarctions|infarctions, anterolateral myocardial EFO:1000812|MESH:D056988|DOID:5845|MedDRA:10068109|UMLS:C0262564 Editor note: todo - create uberon class owl:Class MONDO:0005068 biolink:NamedThing myocardial infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. tmpak2llvmy_mondo_relaxed.owl myocardial infarction (disease)|myocardial infarction|myocardial infarction, (MI)|myocardial infarct|MI|infarction (MI), myocardial|heart attack|MI, myocardial infarction myocardial infarction (disease) UMLS:C0027051|MESH:D009203|SCTID:22298006|EFO:0000612|DOID:5844|ICD10:I21|HP:0001658|NCIT:C27996|ICD10:I22 owl:Class MONDO:0000978 biolink:NamedThing extrahepatic bile duct lipoma A rare benign adipose tissue neoplasm of the extrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct lipoma|lipoma of extrahepatic bile duct|lipoma of the extrahepatic bile duct NCIT:C5854|UMLS:C1333509|DOID:10209 owl:Class MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. tmpak2llvmy_mondo_relaxed.owl lipoma of liver|hepatic lipoma|lipoma of the liver|liver lipoma UMLS:C1333970|NCIT:C5750|DOID:10190 owl:Class MONDO:0001714 biolink:NamedThing bejel A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. tmpak2llvmy_mondo_relaxed.owl Treponema pallidum subsp. endemicum infectious disease|endemic syphilis|nonvenereal syphilis|Treponema pallidum subsp. endemicum caused disease or disorder|Njovera|Treponema pallidum subsp. endemicum disease or disorder|Dichuchwa|Frenga|nonvenereal endemic syphilis UMLS:C0004945|GARD:0005905|DOID:13431 https://rarediseases.info.nih.gov/diseases/5905/bejel owl:Class MONDO:0005976 biolink:NamedThing syphilis A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. tmpak2llvmy_mondo_relaxed.owl Treponema pallidum caused disease or disorder|Treponema pallidum disease or disorder|syphilitic chancre|Treponema pallidum infectious disease MedDRA:10062120|MESH:D013587|ICD10:A51.0|SCTID:76272004|NCIT:C35055|ICD9:097.9|DOID:4166|EFO:0007504 owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpak2llvmy_mondo_relaxed.owl 2016-12-18 14:51:16+00:00 HPO:probinson human_phenotype owl:Class HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025761 Abnormality of skin, hair, or nails. human_phenotype owl:Class GO:0022618 biolink:NamedThing ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. tmpak2llvmy_mondo_relaxed.owl RNA-protein complex assembly|protein-RNA complex assembly|RNP complex assembly owl:Class GO:0071826 biolink:NamedThing ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. tmpak2llvmy_mondo_relaxed.owl protein-RNA complex subunit organization|ribonucleoprotein complex subunit organisation|RNA-protein complex subunit organization owl:Class MONDO:0014606 biolink:NamedThing intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 37|intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|WHSUS|White-Sutton syndrome|MRD37|autosomal dominant mental retardation 37|intellectual disability, autosomal dominant 37|autosomal dominant intellectual disability 37|mental retardation, autosomal dominant type 37|mental retardation, autosomal dominant 37|WHITE-Sutton syndrome OMIM:616364|Orphanet:468678|EFO:0009079|DOID:0070067 owl:Class MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability|mental retardation, autosomal dominant OMIMPS:156200 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045597 biolink:NamedThing positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation|stimulation of cell differentiation|up-regulation of cell differentiation owl:Class GO:0048522 biolink:NamedThing positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular physiological process|activation of cellular process|up regulation of cellular process|stimulation of cellular process|up-regulation of cellular process|upregulation of cellular process owl:Class FOODON:03400217 biolink:NamedThing meat, poultry, seafood or related product (us cfr) Products of the flesh of animals. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0217 http://langual.org owl:Class FOODON:03401270 biolink:NamedThing U.S. code of federal regulations, title 21 food product type Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A1270 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org https://www.ecfr.gov/cgi-bin/text-idx?SID=87f720ce0d0b6c4548f4bbfd1f8e4c3d&mc=true&tpl=/ecfrbrowse/Title21/21chapterI.tpl owl:Class GO:1900016 biolink:NamedThing negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response owl:Class GO:1900015 biolink:NamedThing regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. tmpak2llvmy_mondo_relaxed.owl regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0004934 biolink:NamedThing periostitis Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl periostitis (disease)|periostitis|periosteum inflammation|inflammation of periosteum|periosteum periostitis (disease) MESH:D010522|SCTID:41910004|HP:0040165|NCIT:C13184|DOID:9957|UMLS:C0031111 owl:Class MONDO:0007258 biolink:NamedThing canine teeth, absence of upper permanent tmpak2llvmy_mondo_relaxed.owl canine teeth, absence of upper permanent UMLS:C1861899|OMIM:114600 owl:Class UBERON:0005283 biolink:NamedThing tela choroidea A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm]. tmpak2llvmy_mondo_relaxed.owl tela chorioidea owl:Class UBERON:0004923 biolink:NamedThing organ component layer A part of a wall of an organ that forms a layer. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009738 biolink:NamedThing sialidosis type 2 Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. tmpak2llvmy_mondo_relaxed.owl sialidase deficiency|sialidosis, type 2|ML 1|sialidosis, type 1|nephrosialidosis|dysmorphic sialidosis with renal involvement|myoclonus--cherry Red spot syndrome|sialidosis caused by mutation in NEU1|infantile dysmorphic sialidosis|sialidosis|Neug deficiency|mucolipidosis 1|mucolipidosis type I|ML1|NEU 1 deficiency|glycoprotein neuraminidase deficiency|neuraminidase deficiency|Neu deficiency|sialidosis type II|dysmorphic sialidosis|NEU1 sialidosis|sialidosis, type II|glycoproteinosis|mucolipidosis I|Neu1 deficiency|lipomucopolysaccharidosis|mucolipidosis type 1|cherry Red spot--myoclonus syndrome|neuraminidase 1 deficiency GARD:0007183|SCTID:81896006|ICD10:E77.1|NCIT:C125596|UMLS:C3888317|MESH:C562606|UMLS:C0268232|OMIM:256150|UMLS:CN206285|Orphanet:87876|SCTID:52186006|DOID:3343|OMIM:256550 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 owl:Class MONDO:0020280 biolink:NamedThing metabolic disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98712|UMLS:CN207083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class GO:0045940 biolink:NamedThing positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpak2llvmy_mondo_relaxed.owl stimulation of steroid metabolic process|up regulation of steroid metabolic process|up-regulation of steroid metabolic process|activation of steroid metabolic process|positive regulation of steroid metabolism|upregulation of steroid metabolic process owl:Class GO:0019218 biolink:NamedThing regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpak2llvmy_mondo_relaxed.owl regulation of steroid metabolism owl:Class UBERON:0004951 biolink:NamedThing submucosa of segmental bronchus A submucosa that is part of a segmental bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of tertiary bronchus|segmental bronchial submucosa|tertiary bronchus submucosa|segmental bronchus submucosa owl:Class UBERON:0001957 biolink:NamedThing submucosa of bronchus A submucosa that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchial trunk submucosa|submucous layer of bronchi|bronchial submucosa|bronchus submucosa|bronchi submucosa|submucosa of bronchial trunk|tela submucosa bronchi|submucosa of bronchi owl:Class MONDO:0016969 biolink:NamedThing partial duplication of the long arm of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial duplication of the long arm of chromosome type 19|trisomy 19q|partial duplication of chromosome 19q|partial trisomy 19q|partial trisomy of chromosome 19q|chromosome 19q duplication|partial trisomy of the long arm of chromosome 19|19q duplication|19q trisomy|Duplication 19q UMLS:C0795871|MESH:C538311|GARD:0005326|Orphanet:262986 owl:Class MONDO:0016937 biolink:NamedThing partial duplication of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 19|partial trisomy of chromosome 19 Orphanet:262687|SCTID:726358004 owl:Class GO:0033003 biolink:NamedThing regulation of mast cell activation Any process that modulates the frequency, rate, or extent of mast cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002694 biolink:NamedThing regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. tmpak2llvmy_mondo_relaxed.owl regulation of leucocyte activation|regulation of immune cell activation owl:Class UBERON:0018408 biolink:NamedThing infra-orbital nerve A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose. tmpak2llvmy_mondo_relaxed.owl infraorbital nerve|infra-orbital nerve|infraorbital portion owl:Class UBERON:0011779 biolink:NamedThing nerve of head region A nerve that is part of a head. tmpak2llvmy_mondo_relaxed.owl cephalic nerve|head nerve owl:Class HGNC:6891 biolink:NamedThing MAPRE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005538 biolink:NamedThing proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. tmpak2llvmy_mondo_relaxed.owl anus inflammation|inflammation of anus|rectitis ICD9:569.49|SCTID:3951002|DOID:3127|MESH:D011349|UMLS:C0033246|EFO:0005628|ICD10:K62.89|NCIT:C38011 owl:Class UBERON:0004727 biolink:NamedThing cochlear nerve A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP]. tmpak2llvmy_mondo_relaxed.owl cochlear root of acoustic nerve|vestibulocochlear nerve cochlear component|nervus vestibulocochlearis|vestibulocochlear VIII nerve cochlear component|cochlear root of eighth cranial nerve|auditory nerve|cochlear component owl:Class OBO:CARO_0001001 biolink:NamedThing neuron projection bundle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002672 biolink:NamedThing acinar prostate adenocarcinoma, signet ring variant A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. tmpak2llvmy_mondo_relaxed.owl signet Ring cell carcinoma of prostate|acinar prostate adenocarcinoma, signet Ring variant|prostate signet ring cell carcinoma|prostate gland signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|prostate signet Ring cell carcinoma|signet Ring cell carcinoma of the prostate NCIT:C5535|DOID:3504|UMLS:C1335520 owl:Class MONDO:0005092 biolink:NamedThing signet ring cell carcinoma A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. tmpak2llvmy_mondo_relaxed.owl signet ring cell adenocarcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring cell carcinoma (morphologic abnormality)|signet ring carcinoma|signet ring cell carcinoma EFO:0000698|DOID:3493|ICDO:8490/3|NCIT:C3774|UMLS:C0206696|MESH:D018279 owl:Class MONDO:0004193 biolink:NamedThing pediatric ovarian dysgerminoma A dysgerminoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian dysgerminoma|childhood dysgerminoma|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary NCIT:C6550|DOID:7340|UMLS:C1332988 owl:Class MONDO:0003760 biolink:NamedThing pediatric ovarian germ cell tumor A germ cell tumor that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl ovarian germ cell tumor|childhood ovarian germ cell neoplasm|pediatric ovarian germ cell neoplasm|childhood ovarian germ cell tumor|pediatric ovarian germ cell tumor|ovarian germ cell tumor of childhood DOID:6084|UMLS:C0796664|NCIT:C8588 owl:Class MONDO:0042604 biolink:NamedThing Sandhaus-Ben-Ami syndrome tmpak2llvmy_mondo_relaxed.owl Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations MESH:C537233|GARD:0000154|UMLS:C2931451 owl:Class CL:0000447 biolink:NamedThing carbohydrate secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000151 biolink:NamedThing secretory cell A cell that specializes in controlled release of one or more substances. tmpak2llvmy_mondo_relaxed.owl FMA:86916|BTO:0003659 cell owl:Class MONDO:0010623 biolink:NamedThing ichthyosis and male hypogonadism tmpak2llvmy_mondo_relaxed.owl Ruds|ichthyosis and male hypogonadism|rud syndrome|Ichthyosis-male hypogonadism syndrome GARD:0009612|Orphanet:431|UMLS:C1839989|SCTID:2355008|ICD9:759.89|OMIM:308200 owl:Class UBERON:0004571 biolink:NamedThing systemic arterial system The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. tmpak2llvmy_mondo_relaxed.owl systemic arterial circulatory system owl:Class UBERON:0007798 biolink:NamedThing vascular system Anatomical system that consists of all blood and lymph vessels. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012847 biolink:NamedThing autosomal recessive congenital ichthyosis 6 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive, Nipal4-related|ichthyosis, congenital, autosomal recessive 6|ARCI6|ichthyosis, congenital, autosomal recessive type 6 DOID:0060715|UMLS:C2677065|OMIM:612281|ICD10:Q80.2 owl:Class MONDO:0017778 biolink:NamedThing lamellar ichthyosis Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. tmpak2llvmy_mondo_relaxed.owl congenital lamellar ichthyosis|LI|classic lamellar ichthyosis GARD:0010803|ICD10:Q80.2|Orphanet:313|MedDRA:10023686|NCIT:C84805 owl:Class CHEBI:33673 biolink:NamedThing zinc group molecular entity tmpak2llvmy_mondo_relaxed.owl zinc group molecular entities owl:Class CHEBI:33676 biolink:NamedThing d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. tmpak2llvmy_mondo_relaxed.owl d-block molecular entity|d-block molecular entities|d-block compounds owl:Class UBERON:0012429 biolink:NamedThing hematopoietic tissue Blood-forming tissue, consisting of reticular fibers and cells. tmpak2llvmy_mondo_relaxed.owl hemopoietic tissue|textus haemopoieticus|bone marrow tissue|hematopoietic tissue|haemopoietic tissue owl:Class UBERON:0034769 biolink:NamedThing lymphomyeloid tissue tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014757 biolink:NamedThing macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome tmpak2llvmy_mondo_relaxed.owl TKS|Takenouchi-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome|macrothrombocytopenia and intellectual disability syndrome|TAKENOUCHI-Kosaki syndrome OMIM:616737|Orphanet:487796|UMLS:C4225222 owl:Class MONDO:0009517 biolink:NamedThing Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. tmpak2llvmy_mondo_relaxed.owl Donohue syndrome|leprechaunism|insulin receptor, defect 1N DOID:0050470|GARD:0006885|SCTID:111307005|MESH:D056731|NCIT:C84676|OMIM:246200|Orphanet:508|ICD9:259.8|UMLS:C0265344|ICD10:E34.8 owl:Class MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. tmpak2llvmy_mondo_relaxed.owl disease or disorder, autosomal recessive|disease, autosomal recessive|recessive hereditary disorder (autosomal)|autosomal recessive disease or disorder|autosomal recessive hereditary disorder|autosomal recessive inherited disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease SCTID:85995004|UMLS:C0265388|ICD9:758.5|EFO:1000017|DOID:0050737 owl:Class UBERON:0005020 biolink:NamedThing mucosa of tongue A mucosa that is part of a tongue [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tunica mucosa linguae|organ mucosa of tongue|tongue mucosa of organ|tongue mucosa|lingual mucosa|tongue mucous membrane|tongue organ mucosa|mucous membrane of tongue|mucosa of organ of tongue owl:Class UBERON:0003729 biolink:NamedThing mouth mucosa A mucous membrane that lines the mouth. tmpak2llvmy_mondo_relaxed.owl mouth mucosa|mouth organ mucosa|tunica mucosa oris|oral mucous membrane|mucous membrane of mouth|oral mucosa|oral part of viscerocranial mucosa|buccal mucosa|mucosal lining of mouth|mucosa of mouth|mouth mucous membrane owl:Class GO:0042304 biolink:NamedThing regulation of fatty acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. tmpak2llvmy_mondo_relaxed.owl regulation of fatty acid synthesis|regulation of fatty acid biosynthesis|regulation of fatty acid formation|regulation of fatty acid anabolism owl:Class MONDO:0043008 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA|hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 owl:Class HGNC:13254 biolink:NamedThing FTSJ1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014049 biolink:NamedThing positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. tmpak2llvmy_mondo_relaxed.owl activation of glutamate secretion|stimulation of glutamate secretion|up regulation of glutamate secretion|up-regulation of glutamate secretion|upregulation of glutamate secretion owl:Class MONDO:0012738 biolink:NamedThing long QT syndrome 11 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 11|long QT syndrome caused by mutation in AKAP9|AKAP9 long QT syndrome|long QT syndrome 11|LQT11 MESH:C567513|OMIM:611820|GARD:0010437|UMLS:C2678483|ICD10:I45.8|DOID:0110652 https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 owl:Class MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. tmpak2llvmy_mondo_relaxed.owl familial long QT syndrome|LQTS|congenital long QT syndrome|Romano-Ward syndrome|Romano-Ward long QT syndrome|hereditary long QT syndrome|Ward-Romano syndrome SCTID:442917000|OMIMPS:192500|UMLS:C0035828|ICD10:I45.8|UMLS:C1141890|Orphanet:768|MedDRA:10057926 owl:Class CHEBI:35186 biolink:NamedThing terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. tmpak2llvmy_mondo_relaxed.owl terpenos|Terpen|terpenes|terpeno|terpene owl:Class CHEBI:24632 biolink:NamedThing hydrocarbon A compound consisting of carbon and hydrogen only. tmpak2llvmy_mondo_relaxed.owl Kohlenwasserstoffe|hidrocarburo|hydrocarbure|hydrocarbon|hidrocarburos|Kohlenwasserstoff|hydrocarbons owl:Class MONDO:0043209 biolink:NamedThing albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. tmpak2llvmy_mondo_relaxed.owl albinism GARD:0005768|UMLS:C0001916|SCTID:15890002|NCIT:C84543|MESH:D000417|ICD10:E70.3 This groups multiple types, including those restricted to the eyes, the skin or both owl:Class MONDO:0004736 biolink:NamedThing inherited amino acid metabolic disorder An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. tmpak2llvmy_mondo_relaxed.owl inborn error of amino acid metabolism|rare inborn error of cellular amino acid metabolic process|inborn error of cellular amino acid metabolic process|amino acid metabolic disorder|amino acid metabolism, inborn errors|inborn amino acid metabolism disorder|inborn cellular amino acid metabolic process disorder|inborn errors of amino acid metabolism ICD9:270|MESH:D000592|ICD10:E72.9|SCTID:42930003|GARD:0006770|ICD9:270.9|DOID:9252 owl:Class MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. tmpak2llvmy_mondo_relaxed.owl XX Male, Sry-positive|46,XX testicular DSD|46,XX testicular disorders of Sex development|46,XX testicular disorder of sex development|XX, male syndrome|De la Chapelle syndrome|46,XX testicular differences of sex development|46, XX gonadal sex reversal|XX male syndrome|XX sex reversal DOID:0111760|NCIT:C127170|GARD:0000399|UMLS:C2936419|ICD10:Q99.1|UMLS:CN205000|MESH:D058531|Orphanet:393 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020090 biolink:NamedThing male infertility due to gonadal dysgenesis tmpak2llvmy_mondo_relaxed.owl Male infertility due to testicular dysgenesis 2022-03-01 Orphanet:98313 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0015611 biolink:NamedThing neutral lipid storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. tmpak2llvmy_mondo_relaxed.owl Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease GARD:0003262|UMLS:CN199983|Orphanet:165|ICD10:E75.5|DOID:0050729 Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. owl:Class MONDO:0019245 biolink:NamedThing lysosomal lipid storage disorder An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. tmpak2llvmy_mondo_relaxed.owl lipoid storage diseas|lipoidosis|rare inborn error of lipid storage|lipidoses|inborn lipid storage disorder|lipoidoses|lipoid storage disease|lipoid storage disorder|lipid storage disease|inborn error of lipid storage|lipidosis Orphanet:79204|DOID:9455|MESH:D008064|ICD9:272.8|UMLS:CN205834|SCTID:10741005|ICD9:272.7|ICD10:E75.5|ICD10:E75.6 owl:Class GO:0051246 biolink:NamedThing regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpak2llvmy_mondo_relaxed.owl regulation of protein metabolism owl:Class GO:0080090 biolink:NamedThing regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase deficiency|PDH|PDHC|pyruvate dehydrogenase complex deficiency disease|pyruvate decarboxylase deficiency|pyruvate dehydrogenase complex deficiency|deficiency of pyruvic dehydrogenase SCTID:46683007|GARD:0007513|OMIMPS:312170|NCIT:C103968|EFO:0007459|DOID:3649|ICD9:277.89|ICD10:E74.4|Orphanet:765 owl:Class MONDO:0016403 biolink:NamedThing mitochondrial disease with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201332|Orphanet:225703 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class UBERON:0004387 biolink:NamedThing epiphysis of phalanx of manus An epiphysis that is part of a phalanx of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiphysis of phalanx of finger|epiphysis of phalanx of hand owl:Class UBERON:0004446 biolink:NamedThing epiphysis of phalanx An epiphysis that is part of a phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045605 biolink:NamedThing negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation owl:Class GO:0030857 biolink:NamedThing negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. tmpak2llvmy_mondo_relaxed.owl down regulation of epithelial cell differentiation|inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation owl:Class MONDO:0015783 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.1|Orphanet:177901|UMLS:CN200365 owl:Class MONDO:0020301 biolink:NamedThing Prader-Willi syndrome due to paternal 15q11q13 deletion tmpak2llvmy_mondo_relaxed.owl Orphanet:98793|UMLS:CN207115|ICD10:Q87.1 owl:Class MONDO:0007054 biolink:NamedThing acromial dimples tmpak2llvmy_mondo_relaxed.owl supraspinous fossae, congenital|acromial dimples OMIM:102350|UMLS:C1863321 owl:Class MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. tmpak2llvmy_mondo_relaxed.owl hypereosinophilic disease|eosinophilia|HES|eosinophilic leukocytosis|hypereosinophilic syndrome|hypereosinophilic disorder NCIT:C27038|MESH:D017681|SCTID:419455006|ICD9:288.3|DOID:999|GARD:0002804|ICD10:D47.5|ICD10:D72.1|Orphanet:168956|UMLS:C1540912|ICDO:9964/3|EFO:1001467|MedDRA:10048643 owl:Class MONDO:0044972 biolink:NamedThing eosinophil disease A disease or disorder that involves the eosinophil. tmpak2llvmy_mondo_relaxed.owl disease of eosinophil|disorder of eosinophil|disease or disorder of eosinophil|eosinophil disease or disorder SCTID:417967008|UMLS:C1691020 owl:Class GO:0015693 biolink:NamedThing magnesium ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl magnesium transport owl:Class GO:0030001 biolink:NamedThing metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl heavy metal ion transport|divalent metal ion transport owl:Class CL:0000748 biolink:NamedThing retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008028 biolink:NamedThing visual system neuron tmpak2llvmy_mondo_relaxed.owl dos 2017-07-09 19:12:36+00:00 owl:Class PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tmpak2llvmy_mondo_relaxed.owl tumorous owl:Class ENVO:01001226 biolink:NamedThing terrestrial natural environment A natural environment which is located on a land mass. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000951 biolink:NamedThing natural environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012080 biolink:NamedThing patella cartilage element A cartilaginous condensation that has the potential to develop into a patella. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005863 biolink:NamedThing cartilaginous condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. tmpak2llvmy_mondo_relaxed.owl cartilage condensation|chondrogenic condensation|cartilagenous condensation owl:Class GO:0048666 biolink:NamedThing neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048468 biolink:NamedThing cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl terminal differentiation owl:Class GO:0060457 biolink:NamedThing negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:35500 biolink:NamedThing Pecora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9845 biolink:NamedThing Ruminantia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010313 biolink:NamedThing neural crest-derived structure An anatomical structure that develops from the neural crest. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000061 biolink:NamedThing anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. tmpak2llvmy_mondo_relaxed.owl connected biological structure|biological structure owl:Class UBERON:0004641 biolink:NamedThing spleen capsule the connective tissue that surrounds the spleen tmpak2llvmy_mondo_relaxed.owl capsule of spleen|fibrous capsule of spleen|Malpighian capsule|tunica fibrosa (splen)(lien)|tunica fibrosa splenica|splenic capsule|capsula splenica|fibroelastic coat of spleen owl:Class HGNC:29160 biolink:NamedThing FASTKD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007712 biolink:NamedThing oculoauriculovertebral spectrum with radial defects Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. tmpak2llvmy_mondo_relaxed.owl Moeschler-Clarren syndrome|hemifacial microsomia-radial defects syndrome|hemifacial microsomia with radial defects|Moeschler Clarren syndrome|oculoauriculovertebral spectrum with radial defect|microsomia hemifacial radial defects|Goldenhar syndrome with ipsilateral radial defect|Oavs with radial defect SCTID:726722009|Orphanet:2549|ICD10:Q75.8|OMIM:141400|GARD:0003653 owl:Class MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic dysostosis Orphanet:404568 owl:Class MONDO:0019962 biolink:NamedThing thyroid lymphoma A lymphoma primarily involving the thyroid gland. tmpak2llvmy_mondo_relaxed.owl lymphoma of thyroid|lymphoma of the thyroid gland|lymphoma of thyroid gland|primary thyroid gland lymphoma|lymphoma of the thyroid|thyroid lymphoma|thyroid gland lymphoma DOID:10011|UMLS:C1336753|NCIT:C5265|ICD10:C85.7|Orphanet:97285 owl:Class MONDO:0017207 biolink:NamedThing primary organ-specific lymphoma tmpak2llvmy_mondo_relaxed.owl UMLS:C1334465|NCIT:C7185|Orphanet:279911 owl:Class MONDO:0014620 biolink:NamedThing myoclonic dystonia 26 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene. tmpak2llvmy_mondo_relaxed.owl myoclonic dystonia type 26|dystonia 26, myoclonic|DYT26|KCTD17 myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in KCTD17 UMLS:C4225341|OMIM:616398|DOID:0090036 owl:Class MONDO:0000903 biolink:NamedThing myoclonus-dystonia syndrome Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. tmpak2llvmy_mondo_relaxed.owl dystonia 11, myoclonic|hereditary essential myoclonus|myoclonus-Dystonia|myoclonus, hereditary essential|dystonia 11|myoclonic dystonia|dystonia-11, myoclonic|dystonia, alcohol responsive|DYT-SGCE|DYT11|myoclonus-dystonia|dystonia, alcohol-responsive|alcohol-responsive dystonia|Hereditary essential myoclonus|myoclonus-dystonia syndrome|dystonia with myoclonus Orphanet:36899|GARD:0007139|DOID:0090033|SCTID:439732004|UMLS:C1834570|ICD9:333.99|ICD10:G24.1|MESH:C536096 owl:Class MONDO:0006803 biolink:NamedThing inferior myocardial infarction Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. tmpak2llvmy_mondo_relaxed.owl MESH:D056989|UMLS:C0340305|DOID:5850|EFO:1000983|MedDRA:10057546 owl:Class MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. tmpak2llvmy_mondo_relaxed.owl anemia Diamond Blackfan type|Diamond-Blackfan anemia|Blackfan Diamond syndrome|aregenerative anemia chronic congenital|inherited erythroblastopenia|Aase-Smith II syndrome|Aase syndrome|Blackfan - Diamond syndrome|chronic constitutional pure red cell anaemia|anemia congenital erythroid hypoplastic|congenital PRCA|Blackfan-Diamond anemia|congenital hypoplastic anemia|Red cell aplasia, pure hereditary|erythrogenesis imperfecta|DBA|congenital hypoplastic anemia, Blackfan-Diamond type|BDS|congenital pure red cell aplasia ICD10:D61.01|NCIT:C61236|UMLS:C1260899|DOID:1339|MedDRA:10062989|UMLS:C0265265|OMIMPS:105650|ICD10:D61.0|SCTID:88854002|Orphanet:124|MESH:D029503|GARD:0006274 owl:Class MONDO:0001705 biolink:NamedThing pure red-cell aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. tmpak2llvmy_mondo_relaxed.owl PRCA|pure red cell aplasia|red cell hypoplasia|primary red cell aplasia ICD9:284.81|NCIT:C34974|SCTID:50715003|DOID:1340|MESH:D012010|UMLS:C0034902|GARD:0007504 owl:Class MONDO:0024320 biolink:NamedThing inner ear neoplasm A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. tmpak2llvmy_mondo_relaxed.owl internal ear tumor|inner Ear neoplasm|internal ear neoplasm|internal ear neoplasm (disease)|tumor of internal ear|neoplasm of internal ear|internal Ear neoplasm UMLS:C1512779|NCIT:C39784 owl:Class MONDO:0002467 biolink:NamedThing inner ear disease A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. tmpak2llvmy_mondo_relaxed.owl labyrinthine disease|internal ear disease or disorder|internal Ear disorder|internal ear disease|disease of internal ear|disease or disorder of internal ear|inner Ear disorder|vestibular disorder|disorder of internal ear DOID:2952|MESH:D007759|ICD10:H83.90|SCTID:232297009|ICD10:H80-H83|ICD10:H83.9|ICD10:H80.H83|NCIT:C27166 owl:Class GO:0043122 biolink:NamedThing regulation of I-kappaB kinase/NF-kappaB signaling Any process that modulates I-kappaB kinase/NF-kappaB signaling. tmpak2llvmy_mondo_relaxed.owl regulation of I-kappaB kinase/NF-kappaB cascade owl:Class MONDO:0002055 biolink:NamedThing benign eccrine breast spiradenoma A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. tmpak2llvmy_mondo_relaxed.owl benign eccrine breast spiradenoma|benign eccrine spiradenoma of breast|benign breast eccrine spiradenoma|benign eccrine spiradenoma of the breast DOID:1616|NCIT:C5193|UMLS:C1332492 owl:Class MONDO:0003448 biolink:NamedThing benign spiradenoma A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. tmpak2llvmy_mondo_relaxed.owl benign eccrine spiradenoma|eccrine spiradenoma|spiradenoma|spiroma/spiradenoma|eccrine spiradenoma (morphologic abnormality)|eccrine spiradenoma of skin DOID:5444|ICDO:8403/0|ONCOTREE:SPIR|SCTID:403938001|NCIT:C4170|GARD:0008649|UMLS:C0334347 Spiradenomas are usually benign. Malignant forms are rare. owl:Class MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl skin disease, genetic|genodermatosis|genetic skin diseases|disease, genetic skin|diseases, genetic skin|genetic skin disease SCTID:239001006|MESH:D012873 owl:Class MONDO:0014038 biolink:NamedThing colorectal cancer, susceptibility to, 12 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, type 12|colorectal cancer, susceptibility to, on chromosome 12Q24|colorectal cancer, susceptibility to, 12|POLE colorectal cancer|CRCS12|susceptibility to colorectal cancer 12|colorectal cancer caused by mutation in POLE OMIM:615083 owl:Class MONDO:0003356 biolink:NamedThing epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl epithelioid leiomyosarcoma NCIT:C3700|UMLS:C0205815|ICDO:8891/3|DOID:5264 owl:Class MONDO:0005058 biolink:NamedThing leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma|leiomyosarcoma - not uterine|Leiomyosarcomas|leiomyosarcoma, malignant GARD:0006880|EFO:0000564|ONCOTREE:LMS|ICD9:171.9|Orphanet:64720|DOID:1967|MESH:D007890|NCIT:C3158|SCTID:443719001|MedDRA:10024189|ICD10:C49.9|ICDO:8890/3|UMLS:C0023269 https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma owl:Class MONDO:0009034 biolink:NamedThing craniofacial dyssynostosis Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. tmpak2llvmy_mondo_relaxed.owl craniosynostosis-craniofacial dysostosis syndrome|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis with short stature|craniofacial dyssynostosis and short stature Orphanet:1516|MESH:C536455|GARD:0001575|ICD10:Q87.0|UMLS:C1857511|OMIM:218350 https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis owl:Class MONDO:0011233 biolink:NamedThing Axenfeld-Rieger syndrome type 3 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. tmpak2llvmy_mondo_relaxed.owl Rieger syndrome, type 3|Rieger anomaly|anterior chamber cleavage syndrome|anterior chamber Cleavage syndrome|RIEG3|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|Axenfeld anomaly|Rieger syndrome type 3|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|Axenfeld-Rieger anomaly|Axenfeld-Rieger syndrome caused by mutation in FOXC1|FOXC1 Axenfeld-Rieger syndrome|Axenfeld-Rieger syndrome type 3|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior segment mesenchymal dysgenesis ICD10:Q13.8|SCTID:22155002|ICD9:743.44|DOID:0110122|OMIM:602482 Editor note: check relationship to MONDO:0007138 owl:Class MONDO:0019187 biolink:NamedThing Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. tmpak2llvmy_mondo_relaxed.owl anomaly, Rieger's|goniodysgenesis hypodontia|Rieger's anomaly|RGS - Rieger syndrome|Axenfeld syndrome|Axenfeldt-Rieger syndrome|iridogoniodysgenesis with somatic anomalies|Hagedoom syndrome|Rieger syndrome Orphanet:782|GARD:0005701|OMIMPS:180500|UMLS:C3495488|ICD9:743.44|MESH:C535679|NCIT:C131001|UMLS:CN776842|MedDRA:10059255|DOID:14686|SCTID:47507006|ICD10:Q13.8|ICD10:Q13.81 https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome owl:Class GO:0001675 biolink:NamedThing acrosome assembly The formation of the acrosome from the spermatid Golgi. tmpak2llvmy_mondo_relaxed.owl acrosome formation owl:Class GO:0003006 biolink:NamedThing developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. tmpak2llvmy_mondo_relaxed.owl reproductive developmental process|puberty owl:Class GO:1902116 biolink:NamedThing negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. tmpak2llvmy_mondo_relaxed.owl downregulation of organelle assembly|down-regulation of organelle assembly|down regulation of organelle assembly|inhibition of organelle assembly owl:Class GO:0010639 biolink:NamedThing negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpak2llvmy_mondo_relaxed.owl negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis owl:Class MONDO:0012953 biolink:NamedThing colorectal cancer, susceptibility to, 10 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, type 10|colorectal cancer, susceptibility to, 10|susceptibility to colorectal cancer 10|CRCS10|POLD1 colorectal cancer OMIM:612591 owl:Class MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. tmpak2llvmy_mondo_relaxed.owl SCTID:764811001|ICD10:B87.8|Orphanet:165958 owl:Class MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. tmpak2llvmy_mondo_relaxed.owl infestation by fly larvae|infestation by maggots|myiasis, unspecified|maggot infestation ICD10:B87.1|ICD10:B87.8|ICD10:B87|ICD9:134.0|ICD10:B87.0|ICD10:B87.2|MESH:D009198|ICD10:B87.9|EFO:0007389|UMLS:C0027030|NCIT:C128400|ICD10:B87.3|ICD10:B87.4|DOID:11080|SCTID:60412004|MedDRA:10028586|Orphanet:75110 owl:Class UBERON:0002198 biolink:NamedThing neurohypophysis The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. tmpak2llvmy_mondo_relaxed.owl posterior pituitary|pituitary gland neural lobe|infundibular process|lobus nervosus neurohypophysis|posterior lobe of hypophysis|neural lobe of pituitary gland|pituitary gland, posterior lobe|lobus posterior|posterior lobe of pituitary gland|NHP|posterior lobe of pituitary|neurohypophysis|pituitary gland, neural lobe|neural lobe of pituitary|neuro hypophysis|posterior pituitary gland|lobus posterior (glandula pituitaria)|neural lobe|lobus posterior hypophysis|lobus nervosus owl:Class UBERON:0010134 biolink:NamedThing secretory circumventricular organ A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004914 biolink:NamedThing celiac artery stenosis from compression by median arcuate ligament of diaphragm A syndromic disease that involves the median arcuate ligament. tmpak2llvmy_mondo_relaxed.owl Marable's syndrome|celiac artery stenosis from compression by median arcuate ligament of diaphragm|celiac access syndrome|median arcuate ligament syndrome|syndromic disease of median arcuate ligament|Harjola-Marable syndrome|celiac artery compression syndrome|median arcuate ligament syndromic disease GARD:0012308|UMLS:C1861783|ICD10:I77.4|ICD9:447.4|OMIM:116870|DOID:9892|MESH:C566151|SCTID:9250002 https://github.com/monarch-initiative/mondo/issues/3691 owl:Class CL:0000319 biolink:NamedThing mucus secreting cell tmpak2llvmy_mondo_relaxed.owl mucous cell BTO:0003689 cell owl:Class MONDO:0023246 biolink:NamedThing linear porokeratosis Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. tmpak2llvmy_mondo_relaxed.owl Porokeratosis, Linear|Congenital facial linear porokeratosis (type)|Linear porokeratosis|Linear Porokeratosis|Zosteriform porokeratosis SCTID:238631008|UMLS:C0302319 owl:Class MONDO:0006602 biolink:NamedThing porokeratosis A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. tmpak2llvmy_mondo_relaxed.owl porokeratosis (disease)|porokeratosis porokeratosis (disease) ICD9:757.39|ICD10:Q82.8|UMLS:C0162839|Orphanet:79358|MedDRA:10036175|ICD9:692.75|Wikipedia:Porokeratosis|SCTID:400080004|ICD10:L56.5|NCIT:C85019|EFO:1000757|OMIMPS:175800|DOID:3805|HP:0200044 owl:Class MONDO:0020144 biolink:NamedThing cerebrovascular dementia tmpak2llvmy_mondo_relaxed.owl rare cerebrovascular dementia Orphanet:98549 owl:Class MONDO:0001627 biolink:NamedThing dementia Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. tmpak2llvmy_mondo_relaxed.owl dementia (disease)|dementia dementia (disease) DOID:1307|GARD:0011946|MESH:D003704|NCIT:C4786|SCTID:52448006|ICD9:290.8|ICD9:294.8|ICD9:294.1 owl:Class UBERON:0008982 biolink:NamedThing fascia A dense regular connective tissue that that connects muscles together[WP, modified]. tmpak2llvmy_mondo_relaxed.owl fascia cluster owl:Class UBERON:0007846 biolink:NamedThing dense regular connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). tmpak2llvmy_mondo_relaxed.owl regular dense connective tissue|dense regular collagenous connective tissue|dense fibrous connective tissue|typus regularis (textus connectivus collagenosus compactus)|dense regular collagenous tissue owl:Class HGNC:3176 biolink:NamedThing EDN1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048870 biolink:NamedThing cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. tmpak2llvmy_mondo_relaxed.owl cell movement|cell locomotion|movement of a cell owl:Class MONDO:0001672 biolink:NamedThing bronchus cancer A malignant neoplasm involving the bronchus tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of bronchus and lung|malignant bronchus neoplasm|bronchus cancer|malignant neoplasm of bronchus and lung, unspecified|malignant neoplasm of bronchus|malignant neoplasm of bronchus or lung|cancer of bronchus ICD10:C34.9|ICD10:C34|ICD9:162.8|SCTID:363493006|ICD9:162.9|DOID:1325 owl:Class MONDO:0004992 biolink:NamedThing cancer A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. tmpak2llvmy_mondo_relaxed.owl malignancy|MT|neoplasm (disease), malignant|cancer|malignant Growth|malignant neoplasm (disease)|malignant neoplasm|organ system cancer|CA|neoplasm, malignant|malignant tumor|malignant neoplastic disease|primary cancer|cell type cancer ICD10:C80|DOID:0050687|ICDO:8000/3|DOID:162|EFO:0000311|ICD10:C80.1|NCIT:C9305|ONCOTREE:MT|SCTID:363346000|GARD:0011960|NIFSTD:birnlex_406|ICD9:195.8|DOID:0050686|UMLS:C0006826|ICD9:199|ICD9:199.1 owl:Class MONDO:0005858 biolink:NamedThing mucinous cystadenocarcinoma An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpak2llvmy_mondo_relaxed.owl Pseudomucinous adenocarcinoma|mucinous cystadenocarcinoma (morphologic abnormality)|mucinous cystadenocarcinoma|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma NOS (morphologic abnormality) ICDO:8470/3|UMLS:C0206699|EFO:0007378|MESH:D018282|DOID:3603|NCIT:C3776 owl:Class UBERON:0004948 biolink:NamedThing submucosa of left main bronchus A submucosa that is part of a left main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of left bronchus|left main bronchial submucosa|left principal bronchus submucosa|left main bronchus submucosa|submucosa of left principal bronchus|left bronchus submucosa owl:Class UBERON:0000009 biolink:NamedThing submucosa A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl organ submucosa|submucous layer|region of submucosa|tunica submucosa|submucosa of organ|tela submucosa|submucosa of region of organ owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. tmpak2llvmy_mondo_relaxed.owl Frequent opportunistic infections UMLS:C1832324 HP:0005426 human_phenotype owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. tmpak2llvmy_mondo_relaxed.owl Frequent, severe infections|Susceptibility to infection|Increased frequency of infection|Predisposition to infections|infections, recurrent|Recurrent infections|Frequent infections UMLS:C0239998 HP:0002957|HP:0002964|HP:0005405 human_phenotype owl:Class MONDO:0005834 biolink:NamedThing lymphogranuloma venereum Infection with the organism Mycobacterium. tmpak2llvmy_mondo_relaxed.owl lymph granuloma inguinale|climatic or tropical bubo|Poradenitis inguinale|strumous bubo|Durand-Nicolas-Favre disease|lymphogranuloma inguinale|LGV EFO:0007353|SCTID:186946009|MESH:D008219|NCIT:C26822|GARD:0009545|ICD10:A55|DOID:13819|UMLS:C0024286|ICD9:099.1 https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum owl:Class MONDO:0005833 biolink:NamedThing lymphatic system disease A disease involving the lymphatic part of lymphoid system. tmpak2llvmy_mondo_relaxed.owl lymphatic disease|adenopathy|lymphatic disorder|swollen gland|glands, swollen|disorder of lymph node and lymphatics|disease of lympoid system|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic part of lymphoid system|lymphatic part of lymphoid system disease or disorder|lymphatic part of lymphoid system disease|lymphangiopathy|swollen glands|lymphadenopathy|disease of lymphatic part of lymphoid system|lympoid system disease|disorder of lymphoid system|disorder of lymphatic system NCIT:C50764|UMLS:C0024228|MESH:D008206|DOID:75|EFO:0007352|SCTID:362971004 Editor note: check alignment to anatomy, consider lymphoid system disease owl:Class UBERON:0014477 biolink:NamedThing thoracic skeleton Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. tmpak2llvmy_mondo_relaxed.owl skeleton of thorax|thoracic skeleton|thoracic part of axial skeleton owl:Class HGNC:28403 biolink:NamedThing TRMT10A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024564 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 1 Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene. tmpak2llvmy_mondo_relaxed.owl CTC1 Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts 1|CRMCC1|Coats plus syndrome|Crmcc|Coats plus syndrome caused by mutation in CTC1 OMIM:612199 owl:Class MONDO:0012815 biolink:NamedThing Coats plus syndrome Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. tmpak2llvmy_mondo_relaxed.owl cerebroretinal microangiopathy with calcifications and cysts|CRMCC|cerebroretinal microangiopathy with calcfications and cysts ICD9:348.89|ICD10:H35.0|OMIMPS:612199|SCTID:711482008|UMLS:CN282828|MESH:C567401|Orphanet:313838 owl:Class MONDO:0006763 biolink:NamedThing frozen shoulder Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpak2llvmy_mondo_relaxed.owl adhesions-capsulitis,shoulder|adhesive capsulitis of shoulder ICD10:M75.0|DOID:14188|MedDRA:10017391|SCTID:399114005|EFO:1000941|ICD9:726.0|UMLS:C0311223 owl:Class MONDO:0005218 biolink:NamedThing muscular disease Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. tmpak2llvmy_mondo_relaxed.owl muscle organ disease|disease of muscle organ|disease or disorder of muscle organ|disorder of muscle organ|muscle organ disease or disorder EFO:0002970|DOID:0080000|MESH:D009135 Editor note: consider merging with child owl:Class HGNC:29059 biolink:NamedThing IQSEC2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903707 biolink:NamedThing negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. tmpak2llvmy_mondo_relaxed.owl down-regulation of haemopoiesis|inhibition of blood cell formation|down-regulation of blood cell formation|inhibition of hemopoiesis|inhibition of hematopoiesis|down regulation of haemopoiesis|down-regulation of hematopoiesis|negative regulation of hematopoiesis|negative regulation of blood cell formation|down regulation of hemopoiesis|downregulation of blood cell formation|inhibition of blood cell biosynthesis|down regulation of blood cell biosynthesis|inhibition of haemopoiesis|down-regulation of blood cell biosynthesis|down regulation of blood cell formation|negative regulation of blood cell biosynthesis|down regulation of hematopoiesis|down-regulation of hemopoiesis|downregulation of blood cell biosynthesis|downregulation of hematopoiesis|downregulation of haemopoiesis|downregulation of hemopoiesis|negative regulation of haemopoiesis owl:Class MONDO:0019835 biolink:NamedThing primary hypophysitis Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). tmpak2llvmy_mondo_relaxed.owl autoimmune hypophysitis|lymphocytic hypophysitis ICD9:279.49|ICD10:E23.6|NCIT:C132055|ICD9:253.8|MESH:D000069281|Orphanet:95506|SCTID:237706000 owl:Class MONDO:0021156 biolink:NamedThing hypophysitis Inflammation of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl hypophysis|hypophysis cerebri|pituitary gland inflammation|hypophysitides|pituitary gland|nervous system, pituitary|inflammation of pituitary gland|pituitary|gland, pituitary UMLS:C0342409|NCIT:C12399|MESH:D000072659|SCTID:237705001 Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ owl:Class CL:0008008 biolink:NamedThing striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008007 biolink:NamedThing visceral muscle cell A muscle cell that is part of some visceral muscle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019738 biolink:NamedThing atypical hemolytic-uremic syndrome with H factor anomaly tmpak2llvmy_mondo_relaxed.owl D-HUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|aHUS with H factor anomaly|atypical HUS with H factor anomaly ICD10:D58.8|Orphanet:93579|UMLS:CN206650 owl:Class MONDO:0009335 biolink:NamedThing hemolytic uremic syndrome, atypical, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl hemolytic uremic syndrome, atypical, susceptibility to, 1|Ahus, susceptibility to, 1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|AHUS1|hemolytic uremic syndrome, typical|susceptibility to atypical hemolytic uremic syndrome 1 OMIM:235400 owl:Class MONDO:0010890 biolink:NamedThing acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|ACFS|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|CCGE|CCGE syndrome|acrocardiofacial syndrome MESH:C563936|Orphanet:2008|UMLS:C1838121|ICD10:Q87.8|GARD:0001167|OMIM:600460 owl:Class MONDO:0012664 biolink:NamedThing spastic ataxia 3 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. tmpak2llvmy_mondo_relaxed.owl spastic ataxia type 3|spastic ataxia 3, autosomal recessive|autosomal recessive spastic ataxia type 3|SPAX3|MARS2 autosomal recessive spastic ataxia|autosomal recessive spastic ataxia with leukoencephalopathy|ARSAL|autosomal recessive spastic ataxia caused by mutation in MARS2 UMLS:CN230089|UMLS:C1969645|MESH:C566956|DOID:0050942|OMIM:611390|ICD10:G11.4|Orphanet:314603 owl:Class MONDO:0017847 biolink:NamedThing autosomal recessive spastic ataxia Autosomal recessive form of spastic ataxia. tmpak2llvmy_mondo_relaxed.owl AR-SPAX|spastic ataxia, autosomal recessive UMLS:CN229112|Orphanet:316240|ICD10:G11.8 owl:Class MONDO:0002206 biolink:NamedThing sweat gland cancer A malignant neoplasm that affects the sweat glands. tmpak2llvmy_mondo_relaxed.owl cancer of sweat gland|malignant neoplasm of sweat gland|malignant tumor of sweat gland|malignant neoplasm of the sweat gland|malignant sweat gland neoplasm|sweat gland cancer|sweat gland neoplasms, malignant|malignant tumor of the sweat gland NCIT:C4810|ICD10:C44|UMLS:C1321904|DOID:2095 owl:Class MONDO:0004757 biolink:NamedThing chronic ethmoidal sinusitis Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpak2llvmy_mondo_relaxed.owl ethmoid sinusitis, chronic|chronic ethmoidal sinusitis|chronic ethmoiditis|ethmoidal sinusitis - chronic|chronic ethmoid sinusitis ICD10:J32.2|SCTID:73237007|UMLS:C0008681|NCIT:C34472|DOID:9312|ICD9:473.2 owl:Class MONDO:0006031 biolink:NamedThing chronic rhinosinusitis Chronic form of sinusitis. tmpak2llvmy_mondo_relaxed.owl sinusitis, chronic|chronic sinusitis ICD9:473.8|SCTID:40055000|PMID:25838086|NCIT:C35151|EFO:1000024|ICD9:473.9|UMLS:C0149516 owl:Class MONDO:0009385 biolink:NamedThing hyperleucine-Isoleucinemia tmpak2llvmy_mondo_relaxed.owl hyperleucine-Isoleucinemia MESH:C562674|UMLS:C0268574|SCTID:7046009|OMIM:238340 owl:Class CHEBI:91007 biolink:NamedThing aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl an aromatic carboxylate owl:Class CHEBI:29067 biolink:NamedThing carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. tmpak2llvmy_mondo_relaxed.owl carboxylic acid anions|carboxylic anions|a carboxylate owl:Class MONDO:0030992 biolink:NamedThing short stature, oligodontia, dysmorphic facies, and motor delay tmpak2llvmy_mondo_relaxed.owl SOFM OMIM:619234 owl:Class MONDO:0005517 biolink:NamedThing pharynx cancer A primary or metastatic malignant neoplasm that affects the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal neoplasm|pharynx neoplasm|malignant chordate pharynx neoplasm|malignant pharyngeal tumor|pharyngeal cancer|malignant tumor of the pharynx|chordate pharynx cancer|cancer of chordate pharynx|pharynx cancer|malignant neoplasm of chordate pharynx|malignant pharynx neoplasm|malignant pharyngeal neoplasm|malignant neoplasm of pharynx|cancer of pharynx|malignant tumor of pharynx|malignant pharynx tumor EFO:0005577|NCIT:C7545|DOID:0060119|MESH:D010610 owl:Class MONDO:0021310 biolink:NamedThing malignant tumor of neck A cancer that involves the neck. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the neck|malignant neoplasm of neck|malignant neck tumor|neck cancer|cancer of the neck|malignant tumor of the neck|cancer of neck|malignant neck neoplasm UMLS:C0746787|SCTID:363489000|NCIT:C4940 owl:Class HGNC:1440 biolink:NamedThing CALCR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008434 biolink:NamedThing Smith-Magenis syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. tmpak2llvmy_mondo_relaxed.owl 17p11.2 microdeletion syndrome|chromosome 17p11.2 deletion syndrome|Smith-Magenis syndrome chromosome region|SMITH-Magenis syndrome|chromosome 17P11.2 deletion syndrome|Smith-Magenis syndrome|SMS|Smith-Magenis chromosome region Orphanet:819|UMLS:C0795864|OMIM:182290|ICD10:Q93.5|GARD:0008197|ICD9:758.33|SCTID:401315004|MESH:D058496|NCIT:C75469|DOID:0060768 owl:Class MONDO:0016895 biolink:NamedThing partial monosomy of the short arm of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 17p|partial deletion of the short arm of chromosome 17|partial monosomy of the short arm of chromosome type 17|partial monosomy of chromosome 17p 2021-01-01 ICD10:Q93.5|Orphanet:261965 Reason: duplicate. This will be merged with MONDO:0022754 chromosome 17p deletion owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality tmpak2llvmy_mondo_relaxed.owl Skin vascular malformation|Vascular abnormalities restricted to skin UMLS:C1842892|MSH:D017445|UMLS:C0162819|SNOMEDCT_US:11263005 peter 2011-12-29T08:52:53Z human_phenotype owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. tmpak2llvmy_mondo_relaxed.owl Abnormality of blood vessels|Abnormality of the vasculature|Vascular abnormalities UMLS:C0241657 human_phenotype owl:Class UBERON:0012355 biolink:NamedThing manual acropodium region The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers). tmpak2llvmy_mondo_relaxed.owl set of digits of hand|acropodial hindlimb segment|manual acropodium segment of limb|set of fingers|anterior acropodium segment of limb|digits of hand|manual acropodium|all fingers|fingers including thumb|fingers set|acropodial region of manus|acropodial segment of manus|anterior acropodium region|digiti manus|anterior acropodium|manual acropodium region owl:Class UBERON:0005451 biolink:NamedThing segment of manus A segment of autopod that is part of a manus. tmpak2llvmy_mondo_relaxed.owl subdivision of hand|hand region|hand subdivision|segment of hand|regio manus owl:Class GO:0046851 biolink:NamedThing negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. tmpak2llvmy_mondo_relaxed.owl inhibition of bone remodeling|down-regulation of bone remodeling|downregulation of bone remodeling|down regulation of bone remodeling owl:Class GO:0034104 biolink:NamedThing negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0028226 biolink:NamedThing autosomal recessive severe congenital neutropenia tmpak2llvmy_mondo_relaxed.owl Orphanet:439849 owl:Class MONDO:0005154 biolink:NamedThing liver disease A disease involving the liver. tmpak2llvmy_mondo_relaxed.owl hepatic disease|disease of liver|hepatic disorder|disease or disorder of liver|liver and intrahepatic bile duct disorder|liver disease or disorder|liver disease|liver disorder|disorder of liver DOID:409|ICD10:K70-K77|ICD9:573.8|UMLS:C0023895|SCTID:235856003|MESH:D008107|EFO:0001421|NCIT:C3196|ICD10:K76.9|ICD9:573.9 owl:Class MONDO:0005151 biolink:NamedThing endocrine system disease A disease involving the endocrine system. tmpak2llvmy_mondo_relaxed.owl endocrine disease|endocrinopathy|endocrine system disease|disorder of endocrine system|endocrine disorder|endocrine system disorder|disease of endocrine system|disease or disorder of endocrine system|thyroid or other glandular disorders|endocrine system disease or disorder NCIT:C3009|DOID:28|EFO:0001379|UMLS:C0014130|MESH:D004700|ICD9:259.9|ICD10:E34.9|SCTID:362969004|ICD9:259.8 owl:Class HGNC:8857 biolink:NamedThing PEX16 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010559 biolink:NamedThing regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903018 biolink:NamedThing regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of glycoprotein metabolism owl:Class MONDO:0018089 biolink:NamedThing double outlet right ventricle Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. tmpak2llvmy_mondo_relaxed.owl double outlet right ventricle|DORV|Dextrotransposition of aorta Orphanet:3426|NCIT:C98916|MESH:D004310|ICD10:Q20.1|UMLS:C0013069|MedDRA:10013611|SCTID:204299009|GARD:0001908|DOID:6406 owl:Class MONDO:0002070 biolink:NamedThing ventricular septal defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. tmpak2llvmy_mondo_relaxed.owl VSD|ventricular septal abnormality|ventricular septal defects|ventricular septal defect (disease)|heart septal defects, ventricular|interventricular septal defect|ventricular septal defect ventricular septal defect (disease) OMIMPS:614429|DOID:1657|HP:0001629|MESH:D006345|SCTID:30288003|ICD10:Q21.0|NCIT:C84506|ICD9:745.4|GARD:0007853 owl:Class MONDO:0006248 biolink:NamedThing hydatidiform mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. tmpak2llvmy_mondo_relaxed.owl hydatid Mole|HYDM|hydatidiform mole|molar pregnancy|hydatidiform mole, recurrent ICD10:O01.0|ONCOTREE:MP|ICDO:9100/0|SCTID:44782008|ICD10:O01.1|UMLS:C0020217|ICD10:O01.9|OMIMPS:231090|NCIT:C3110|GARD:0010263|MESH:D006828|EFO:1000298|Orphanet:99927|MedDRA:10020481|ICD9:631 owl:Class GO:0004970 biolink:NamedThing ionotropic glutamate receptor activity Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022824 biolink:NamedThing transmitter-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl ionotropic neurotransmitter receptor activity owl:Class MONDO:0007033 biolink:NamedThing abducens nerve palsy Paralysis of the abducens nerve. tmpak2llvmy_mondo_relaxed.owl abducens nerve weakness|VI nerve palsy|lateral rectus muscle innervation disorder|VIth nerve paralysis|VIth nerve disorder|abducens nerve disease|cranial nerve VI palsy|abducens nerve cranial nerve palsy|sixth nerve paralysis|disorder of abducent nerve|sixth or abducens nerve palsy|lateral rectus muscle denervation paresis|6th nerve palsy|sixth cranial nerve disorder|abducent nerve paralysis|abducens palsy|sixth cranial nerve palsy|cranial mononeuropathy VI|cranial nerve palsy of abducens nerve|sixth nerve palsy GARD:0009482|ICD10:H49.2|NCIT:C27592|SCTID:398963001|OMIM:100200|DOID:10865|ICD9:378.54 owl:Class MONDO:0020594 biolink:NamedThing abducens nerve disease A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). tmpak2llvmy_mondo_relaxed.owl abducens nerve disease or disorder|abducens nerve disorder|abducens nerve disease|VIth nerve disorder|disease of abducens nerve|disorder of abducens nerve|disease or disorder of abducens nerve NCIT:C27593|SCTID:398925009 owl:Class MONDO:0013344 biolink:NamedThing migraine, with or without aura, susceptibility to, 13 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. tmpak2llvmy_mondo_relaxed.owl KCNK18 migraine disorder|migraine disorder caused by mutation in KCNK18|migraine with or without aura, susceptibility to, 13|MGR13|migraine, with or without aura, susceptibility to, type 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, 13 OMIM:613656 owl:Class MONDO:0100246 biolink:NamedThing migraine with or without aura, susceptibility to An inherited susceptibility or predisposition to developing migraines with or without aura. tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility|migraine with or without aura, susceptibility to OMIMPS:157300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0012130 biolink:NamedThing myofibrillar myopathy 2 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant distal myopathy caused by mutation in CRYAB|myofibrillar myopathy type 2|late-onset distal crystallinopathy|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, 2|MFM2|myopathy, myofibrillar, alpha-B crystallin-related|alpha-B crystallinopathy|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, type 2|myopathy, desmin-related, associated with mutation in the Cryab Gene|CRYAB autosomal dominant distal myopathy Orphanet:399058|MESH:C563848|DOID:0080093|ICD10:G71.0|UMLS:C1837317|OMIM:608810 owl:Class MONDO:0016108 biolink:NamedThing autosomal dominant distal myopathy Autosomal dominant form of distal myopathy. tmpak2llvmy_mondo_relaxed.owl distal myopathy, autosomal dominant ICD10:G71.0|UMLS:CN229018|Orphanet:206650 owl:Class MONDO:0018353 biolink:NamedThing refractory celiac disease Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. tmpak2llvmy_mondo_relaxed.owl intractable celiac sprue|refractory sprue|refractory CD|type I refractory sprue|type II refractory sprue UMLS:CN226092|Orphanet:398063|ICD10:K90.0|EFO:0009266 owl:Class GO:0003341 biolink:NamedThing cilium movement The directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl cilium beating|microtubule-based flagellum movement|flagellar motility|ciliary motility|flagellar movement|flagellum movement owl:Class GO:0007018 biolink:NamedThing microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:157541 biolink:NamedThing Zygodontomys brevicauda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:157540 biolink:NamedThing Zygodontomys tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002019 biolink:NamedThing accessory XI nerve A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cranial nerve XI|spinal part of accessory nerve|accessory nerve [XI]|spinal accessory nerve|CN-XI|accessory XI nerve|spinal accessory nerve tree|pars spinalis nervus accessorius|nervus accessorius [XI]|accessory nerve|eleventh cranial nerve|Willis' nerve|cervical accessory nerve|accessory spinal nerve|radix spinalis nervus accessorius|accessory XI owl:Class UBERON:0035642 biolink:NamedThing laryngeal nerve Any nerve that innervates the larynx. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007879 biolink:NamedThing larynx atresia A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. tmpak2llvmy_mondo_relaxed.owl congenital atresia of the larynx|congenital atresia of larynx|congenital partial atresia of the larynx|larynx, congenital partial atresia OF|laryngeal atresia NCIT:C98972|UMLS:C0265756|MESH:C563637|ICD9:748.3|ICD10:Q31.8|GARD:0003194|GARD:0003192|SCTID:64981002|OMIM:150300|Orphanet:1202 owl:Class MONDO:0015504 biolink:NamedThing larynx anomaly tmpak2llvmy_mondo_relaxed.owl ICD10:Q31.9|ICD10:Q31.3|ICD10:Q31.1|ICD10:Q31.8|ICD10:Q31.0|Orphanet:156249|ICD10:Q31.5 owl:Class MONDO:0009727 biolink:NamedThing atelosteogenesis type II Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. tmpak2llvmy_mondo_relaxed.owl AOII|Aoii|De la Chapelle dysplasia|atelosteogenesis type 2|atelosteogenesis, type 2|neonatal osseous dysplasia type 1|atelosteogenesis, type II|atelosteogenesis type II|atelosteogenesis II|neonatal osseous dysplasia 1|AO2|De 50A Chapelle dysplasia MESH:C535395|UMLS:C1850555|GARD:0008329|ICD9:756.9|UMLS:C1850554|OMIM:256050|Orphanet:56304|SCTID:254055004|ICD10:Q77.5 owl:Class GO:0060084 biolink:NamedThing synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. tmpak2llvmy_mondo_relaxed.owl synaptic transmission involved in urination owl:Class GO:0007274 biolink:NamedThing neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032583 biolink:NamedThing microcephaly 24, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH24|MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618179 owl:Class MONDO:0004855 biolink:NamedThing tenosynovitis Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. tmpak2llvmy_mondo_relaxed.owl Inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation|inflammation of tendon sheath UMLS:C0039520|DOID:970|EFO:1001435|MESH:D013717|SCTID:67801009 owl:Class MONDO:0024876 biolink:NamedThing tendon sheath disorder A disease that involves the tendon sheath. tmpak2llvmy_mondo_relaxed.owl disease or disorder of tendon sheath|tendon sheath disorder|disorder of tendon sheath|tendon sheath disease|tendon sheath disease or disorder|disease of tendon sheath SCTID:312381009|UMLS:C0729734|ICD9:727.9 owl:Class MONDO:0014477 biolink:NamedThing developmental and epileptic encephalopathy, 26 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in KCNB1|EIEE26|KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 26|DEE26|epileptic encephalopathy, early infantile, type 26|early infantile epileptic encephalopathy 26 OMIM:616056|DOID:0080461|UMLS:C4015119|GARD:0012391 https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 owl:Class MONDO:0100455 biolink:NamedThing neonatal-onset developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4058 owl:Class MONDO:0018011 biolink:NamedThing juvenile overlap myositis Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. tmpak2llvmy_mondo_relaxed.owl ICD10:M33.0|Orphanet:329894|SCTID:766252004 owl:Class MONDO:0018010 biolink:NamedThing juvenile idiopathic inflammatory myopathy tmpak2llvmy_mondo_relaxed.owl JIIM Orphanet:329888 owl:Class MONDO:0017324 biolink:NamedThing autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. tmpak2llvmy_mondo_relaxed.owl autosomal recessive hereditary hypophosphatemic rickets|ARHR|hypophosphatemic rickets, autosomal recessive|hereditary hypophosphatemic rickets, autosomal recessive DOID:0050949|ICD10:E83.3|SCTID:90505000|Orphanet:289176|UMLS:CN202957 owl:Class MONDO:0000044 biolink:NamedThing hereditary hypophosphatemic rickets Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. tmpak2llvmy_mondo_relaxed.owl hereditary hypophosphatemic rickets GARD:0006735|ICD10:E83.3|OMIMPS:193100|Orphanet:437|MedDRA:10060873 https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets owl:Class UBERON:0007692 biolink:NamedThing nucleus of thalamus A nucleus of brain that is part of a thalamus. tmpak2llvmy_mondo_relaxed.owl nuclear complex of thalamus|thalamic nucleus owl:Class UBERON:0006569 biolink:NamedThing diencephalic nucleus A nucleus of brain that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000970 biolink:NamedThing Anhidrosis Inability to sweat. tmpak2llvmy_mondo_relaxed.owl Sudomotor dysfunction|Sweating dysfunction|Lack of sweating|Anhydrosis UMLS:C0003028|SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|MEDDRA:10002512 human_phenotype owl:Class MONDO:0013920 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 3 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5|IIAE5|TRAF3 herpes simplex encephalitis|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced, susceptibility to, 5|herpes simplex encephalitis, susceptibility to, 3|herpes simplex encephalitis caused by mutation in TRAF3 OMIM:614849 owl:Class MONDO:0020068 biolink:NamedThing postinfectious encephalitis tmpak2llvmy_mondo_relaxed.owl ICD9:323.6|UMLS:C0393459|MedDRA:10057235|Orphanet:98253|SCTID:192727001 owl:Class MONDO:0001092 biolink:NamedThing colon leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the colon|leiomyoma of colon|colon leiomyoma|colonic leiomyoma NCIT:C5492|DOID:10656|UMLS:C1333092 owl:Class MONDO:0002278 biolink:NamedThing benign colon neoplasm A non-metastasizing neoplasm arising from the wall of the colon. tmpak2llvmy_mondo_relaxed.owl benign tumor of the colon|colon neoplasm|benign colon tumor|benign neoplasm of colon|colon benign neoplasm|colonic tumor|benign colon neoplasm|benign tumor of colon|benign colonic tumor|benign neoplasm of the colon|colonic benign neoplasm|colonic Mass|benign colonic neoplasm NCIT:C2894|UMLS:C0004991|DOID:235|ICD9:211.3|SCTID:92065004 MONDO:0021466 owl:Class MONDO:0019398 biolink:NamedThing desmin-related myopathy with Mallory body-like inclusions tmpak2llvmy_mondo_relaxed.owl early-onset desmin-related myopathy ICD10:G71.8|Orphanet:84132 owl:Class MONDO:0016112 biolink:NamedThing inclusion myopathy tmpak2llvmy_mondo_relaxed.owl cytoplasmic body myopathy GARD:0001658|Orphanet:206662|ICD10:G71.8 https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy owl:Class MONDO:0007164 biolink:NamedThing spastic ataxia 1 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic ataxia type 1|SPAX1|autosomal dominant spastic ataxia caused by mutation in VAMP1|spastic ataxia 1, autosomal dominant|spastic ataxia type 1|VAMP1 autosomal dominant spastic ataxia OMIM:108600|Orphanet:251282|MESH:C566993|UMLS:C1970107|DOID:0050772|ICD10:G11.4 owl:Class MONDO:0017846 biolink:NamedThing autosomal dominant spastic ataxia Autosomal dominant form of spastic ataxia. tmpak2llvmy_mondo_relaxed.owl AD-SPAX|spastic ataxia, autosomal dominant Orphanet:316235|ICD10:G11.4|UMLS:CN229111 owl:Class HGNC:8983 biolink:NamedThing PI4KA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010332 biolink:NamedThing X-linked intellectual disability-cubitus valgus-dysmorphism syndrome An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. tmpak2llvmy_mondo_relaxed.owl cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies ICD10:Q87.8|OMIM:300471|MESH:C564510|UMLS:C1845450|Orphanet:85280 owl:Class UBERON:0010959 biolink:NamedThing craniocervical muscle Any muscle organ that is part of either the head or the neck. tmpak2llvmy_mondo_relaxed.owl muscle of head or neck|muscle of head and neck owl:Class UBERON:0014892 biolink:NamedThing skeletal muscle organ A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). tmpak2llvmy_mondo_relaxed.owl skeletal muscle owl:Class MONDO:0006275 biolink:NamedThing lung giant cell carcinoma A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. tmpak2llvmy_mondo_relaxed.owl GCLC|giant cell carcinoma|giant cell carcinoma of lung|giant cell lung carcinoma|lung giant cell carcinoma|giant cell carcinoma of the lung SCTID:254631008|MESH:D018286|UMLS:C0345960|ONCOTREE:GCLC|UMLS:C0206703|EFO:1000332|NCIT:C4452|DOID:5583|ICD9:162.9 owl:Class MONDO:0006279 biolink:NamedThing lung sarcomatoid carcinoma A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. tmpak2llvmy_mondo_relaxed.owl sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma SCTID:707460002|NCIT:C45540|ICD9:162.9|EFO:1000336|ONCOTREE:SARCL owl:Class GO:0045930 biolink:NamedThing negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl negative regulation of mitotic cell cycle progression|down regulation of progression through mitotic cell cycle|downregulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle|negative regulation of progression through mitotic cell cycle owl:Class GO:0007346 biolink:NamedThing regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl mitotic cell cycle modulation|regulation of progression through mitotic cell cycle|regulation of mitotic cell cycle progression|mitotic cell cycle regulator|modulation of mitotic cell cycle progression|mitotic cell cycle regulation owl:Class MONDO:0024358 biolink:NamedThing complex sleep apnea A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. tmpak2llvmy_mondo_relaxed.owl complex sleep apnea|CompSAS|mixed sleep apnea DOID:0080302|SCTID:230493001 owl:Class MONDO:0007147 biolink:NamedThing obstructive sleep apnea syndrome Cessation of air flow during sleep due to upper airway obstruction. tmpak2llvmy_mondo_relaxed.owl Osa|OSAHS|Apneas, obstructive sleep|obstructive sleep Apneas|sleep Apneas, obstructive|syndrome, sleep apnea, obstructive|obstructive sleep apnea syndrome|syndrome, upper airway resistance, sleep apnea|sleep apnea/hypopnea syndrome|upper airway resistance sleep apnea syndrome|apnea, obstructive sleep|syndrome, obstructive sleep apnea|obstructive sleep apnea|sleep apnea syndrome, obstructive|sleep apnea hypopnea syndrome EFO:0003918|DOID:0050848|SCTID:78275009|OMIM:107650|ICD9:780.57|HP:0002870|ICD10:G47.33|ICD10:G47.3|ICD10:G47.30|MESH:D020181|NCIT:C27168|ICD9:327.23|UMLS:C0520679 owl:Class GO:0016836 biolink:NamedThing hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016835 biolink:NamedThing carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. tmpak2llvmy_mondo_relaxed.owl other carbon-oxygen lyase activity owl:Class GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process Any process that activates or increases the frequency, rate or extent of bile acid metabolic process. tmpak2llvmy_mondo_relaxed.owl upregulation of bile acid metabolism|upregulation of bile acid metabolic process|up-regulation of bile acid metabolism|activation of bile acid metabolism|up-regulation of bile acid metabolic process|positive regulation of bile acid metabolism|activation of bile acid metabolic process|up regulation of bile acid metabolism|up regulation of bile acid metabolic process owl:Class GO:0031325 biolink:NamedThing positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl upregulation of cellular metabolic process|positive regulation of cellular metabolism|up-regulation of cellular metabolic process|activation of cellular metabolic process|stimulation of cellular metabolic process|up regulation of cellular metabolic process owl:Class HGNC:2950 biolink:NamedThing DNAH5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3801 biolink:NamedThing FOXC2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7207 biolink:NamedThing MPDU1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007168 biolink:NamedThing atelosteogenesis type III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. tmpak2llvmy_mondo_relaxed.owl AO3|atelosteogenesis, type 3|Aoiii|atelosteogenesis type 3|AOIII|atelosteogenesis, type III ICD10:Q78.8|SCTID:725142004|MESH:C579928|Orphanet:56305|OMIM:108721|GARD:0010608 owl:Class MONDO:0000389 biolink:NamedThing atelosteogenesis tmpak2llvmy_mondo_relaxed.owl DOID:0050648|OMIMPS:108720|UMLS:CN163181|SCTID:43814000 owl:Class CL:0002590 biolink:NamedThing smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:20Z cell owl:Class CL:0000359 biolink:NamedThing vascular associated smooth muscle cell A smooth muscle cell assocatiated with the vasculature. tmpak2llvmy_mondo_relaxed.owl VSMC|vascular smooth muscle cell cell owl:Class UBERON:0011591 biolink:NamedThing tract of diencephalon An axon tract that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl diencephalon tract owl:Class UBERON:0007702 biolink:NamedThing tract of brain An axon tract that is part of a brain. tmpak2llvmy_mondo_relaxed.owl landmark tracts|brain tract owl:Class MONDO:0019246 biolink:NamedThing inborn disorder of lysosomal amino acid transport tmpak2llvmy_mondo_relaxed.owl disorder of lysosomal amino acid transport UMLS:CN227605|Orphanet:79207 owl:Class MONDO:0002561 biolink:NamedThing lysosomal storage disease A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. tmpak2llvmy_mondo_relaxed.owl lysosomal disease|lysosomal disorder|lysosome disorder|lysosome disease|disorder of lysosomal enzymes|inborn lysosomal enzyme disorder|lysosomal storage metabolism disorder|disorder of lysosomal enzyme|lysosomal storage disorder|phospholipidosis UMLS:C0085078|Orphanet:68366|DOID:3211|SCTID:23585005|NCIT:C61250|UMLS:CN205533|MESH:D016464 owl:Class MONDO:0003299 biolink:NamedThing colorectal leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the large bowel|leiomyoma of large intestine|leiomyoma of large bowel|large bowel leiomyoma|leiomyoma of the large intestine|colorectum leiomyoma|colorectal leiomyoma|large intestine leiomyoma NCIT:C5677|DOID:5143|UMLS:C1333113 owl:Class MONDO:0005335 biolink:NamedThing colorectal neoplasm A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl large bowel neoplasm|colorectum neoplasm|neoplasm of the large bowel|colorectum tumor|colorectum neoplasm (disease)|colorectal tumor|tumor of large bowel|large intestine tumor|neoplasm of colorectum|tumor of colorectum|tumor of the large bowel|colorectal neoplasm|large intestine neoplasm|large intestinal neoplasm|large bowel tumor|neoplasm of large bowel MESH:D015179|EFO:0004142|NCIT:C2956 MONDO:0021236 owl:Class MONDO:0013575 biolink:NamedThing plasma fibronectin deficiency tmpak2llvmy_mondo_relaxed.owl plasma fibronectin deficiency OMIM:614101 owl:Class MONDO:0013970 biolink:NamedThing branched-chain keto acid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. tmpak2llvmy_mondo_relaxed.owl BCKDK deficiency|Bckdk deficiency|branched-chain keto acid dehydrogenase kinase deficiency|branched-chain KETO acid dehydrogenase KINASE deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD DOID:0090126|ICD10:E71.1|Orphanet:308410|UMLS:C3554078|OMIM:614923 owl:Class MONDO:0013597 biolink:NamedThing platelet-type bleeding disorder 14 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. tmpak2llvmy_mondo_relaxed.owl TBXAS1 inherited bleeding disorder, platelet-type|BDPLT14|bleeding disorder, platelet-type, 14|thromboxane synthase deficiency|thromboxane synthetase deficiency|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1 OMIM:614158|UMLS:C0398635|SCTID:234477002|DOID:0111047|MESH:C562866 owl:Class MONDO:0000009 biolink:NamedThing inherited bleeding disorder, platelet-type tmpak2llvmy_mondo_relaxed.owl bleeding disorder, platelet-type|thrombocytopathy|platelet disorder|blood platelet disease DOID:2218|OMIMPS:231200|UMLS:C0005818 owl:Class UBERON:0037089 biolink:NamedThing wall of orbit tmpak2llvmy_mondo_relaxed.owl orbit wall owl:Class UBERON:0012175 biolink:NamedThing acoustico-facial VII-VIII ganglion complex tmpak2llvmy_mondo_relaxed.owl acousticofacial ganglion|facio-acoustic VII-VIII ganglion complex|facio-acoustic ganglion complex|facio-acoustic ganglion|facio-acoustic ganglion complex VII-VIII owl:Class UBERON:0001714 biolink:NamedThing cranial ganglion the groups of nerve cell bodies associated with the twelve cranial nerves tmpak2llvmy_mondo_relaxed.owl presumptive cranial ganglia|cranial neural tree organ ganglion|cranial ganglion part of peripheral nervous system|cranial ganglion/nerve|cranial neural ganglion|cranial nerve ganglion|cranial ganglion|ganglion of cranial nerve|head ganglion|cranial ganglia|ganglion of cranial neural tree organ owl:Class MONDO:0000894 biolink:NamedThing mucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. tmpak2llvmy_mondo_relaxed.owl DOID:0080185 owl:Class MONDO:0024338 biolink:NamedThing mucinous neoplasm tmpak2llvmy_mondo_relaxed.owl mucinous neoplasm|mucinous tumor NCIT:C7070|UMLS:C1334811 owl:Class NCBITaxon:188543 biolink:NamedThing Demodicidae tmpak2llvmy_mondo_relaxed.owl follicle mites GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:188547 biolink:NamedThing Cheyletoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0032787 biolink:NamedThing monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpak2llvmy_mondo_relaxed.owl monocarboxylate metabolic process|monocarboxylic acid metabolism owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. tmpak2llvmy_mondo_relaxed.owl Thin, sparse hair|Hypotrichosis|Marked hypotrichosis|Decreased hair growth on body|Sparse hair|Sparse hair since birth|Decreased hair growth SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1837770|UMLS:C1860844|MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0002291|HP:0004538|HP:0004522|HP:0001006|HP:0004525|HP:0002551|HP:0004874|HP:0002237 human_phenotype owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. tmpak2llvmy_mondo_relaxed.owl Abnormal hair quantity|Abnormality of hair density UMLS:C4023401|UMLS:C4023397 peter 2012-03-01T08:46:57Z HP:0002115|HP:0011357 human_phenotype owl:Class MONDO:0033368 biolink:NamedThing developmental and epileptic encephalopathy, 59 tmpak2llvmy_mondo_relaxed.owl DEE59|epileptic encephalopathy, early infantile, 59|infantile epileptic encephalopathy 59|EIEE59 DOID:0080291|OMIM:617904|UMLS:CN870853 owl:Class MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy with burst-suppression|Ohtahara syndrome|early infantile epileptic encephalopathy|developmental and epileptic encephalopathy|early infantile epileptic encephalopathy with suppression-bursts|infantile spasm|EIEE|infantile epileptic encephalopathy|epileptic encephalopathy, early infantile|epileptic encephalopathy, infantile 2018-10-10 22:04:15+00:00 Orphanet:1934|DOID:0050709|ICD10:G40.3|ICD9:345.6|MedDRA:10071545|NCIT:C122814|ICD10:G40.82|SCTID:230429005|DOID:2481|GARD:0009255|ICD9:345.10|EFO:1000643|OMIMPS:308350 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. owl:Class MONDO:0001386 biolink:NamedThing visual epilepsy Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' tmpak2llvmy_mondo_relaxed.owl epilepsy, visual UMLS:C0270824|MESH:D012640|DOID:11832|NCIT:C3980|SCTID:39194005 owl:Class MONDO:0003584 biolink:NamedThing visual cortex disease A disease involving the visual cortex. tmpak2llvmy_mondo_relaxed.owl disease or disorder of visual cortex|visual cortex dysfunction|visual cortex disease|visual cortex disorder|visual cortex disease or disorder|disease of visual cortex|disorder of visual cortex UMLS:C0234398|ICD10:H47.6|ICD9:377.7|SCTID:128329001|DOID:5691 owl:Class MONDO:0011713 biolink:NamedThing melanoma-pancreatic cancer syndrome tmpak2llvmy_mondo_relaxed.owl familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome OMIM:606719 owl:Class MONDO:0018453 biolink:NamedThing familial atypical multiple mole melanoma syndrome tmpak2llvmy_mondo_relaxed.owl familial Clark nevus syndrome|familial atypical mole syndrome|B-K mole syndrome|familial atypical mole melanoma syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome|familial dysplastic nevus syndrome|FAMM syndrome|FAMMM syndrome|FAMM-PC syndrome ICD10:D22.9|Orphanet:404560|NCIT:C27264 owl:Class GO:0002437 biolink:NamedThing inflammatory response to antigenic stimulus An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006954 biolink:NamedThing inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpak2llvmy_mondo_relaxed.owl inflammation owl:Class UBERON:0001836 biolink:NamedThing saliva A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions. tmpak2llvmy_mondo_relaxed.owl saliva molecularis|saliva atomaris|sailva normalis|salivary gland secretion owl:Class UBERON:0000456 biolink:NamedThing secretion of exocrine gland A portion of organism substance that is produced by exocrine glands. tmpak2llvmy_mondo_relaxed.owl secreted substance|bodily secretion|secretion|external secretion|exocrine gland fluid/secretion|exocrine gland fluid|exocrine gland fluid or secretion|exocrine gland secretion owl:Class UBERON:8410051 biolink:NamedThing lymphatic vessel of colon A lymphatic vessel located in the colon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001473 biolink:NamedThing lymphatic vessel A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. tmpak2llvmy_mondo_relaxed.owl lymph vessel|vas lymphaticum owl:Class GO:0002244 biolink:NamedThing hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. tmpak2llvmy_mondo_relaxed.owl hemopoietic progenitor cell differentiation|haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation owl:Class GO:0030154 biolink:NamedThing cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017871 biolink:NamedThing bilateral massive adrenal hemorrhage tmpak2llvmy_mondo_relaxed.owl bilateral adrenal hemorrhage|BMAH UMLS:CN203920|ICD10:E27.4|Orphanet:319205 owl:Class MONDO:0019801 biolink:NamedThing acute adrenal insufficiency Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. tmpak2llvmy_mondo_relaxed.owl adrenal crisis|adrenocortical crisis|Addisonian crisis|acute adrenal failure|acute adrenocortical insufficiency Orphanet:95409|ICD10:E27.2|NCIT:C112840|ICD9:255.41|UMLS:C0151467|SCTID:24867002 owl:Class HGNC:8079 biolink:NamedThing FRMD7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008895 biolink:NamedThing splanchnocranium Subdivision of endoskeleton derived from pharyngeal arches tmpak2llvmy_mondo_relaxed.owl branchial arch skeleton|pharyngeal skeleton|viscerocranium|pharyngeal arch|visceral skeletal system|visceral cranium|visceral skeleton|gill arch skeleton|pharyngeal endoskeleton|pharyngeal arch skeleton owl:Class UBERON:0010314 biolink:NamedThing structure with developmental contribution from neural crest An anatomical structure that has some part that develops from the neural crest. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008541 biolink:NamedThing spermatic cord torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. tmpak2llvmy_mondo_relaxed.owl torsion of testicle|torsion of testis|torsion of testicular cord|testicular torsion ICD9:608.2|SCTID:81996005|NCIT:C26885|ICD10:N44.00|ICD9:608.20|ICD10:N44.02|UMLS:C0037856|MESH:D013086|DOID:11996|OMIM:187400|ICD10:N44.0 owl:Class UBERON:0001678 biolink:NamedThing temporal bone the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous tmpak2llvmy_mondo_relaxed.owl os temporale owl:Class HGNC:17582 biolink:NamedThing KAT6B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000761 biolink:NamedThing syndrome caused by partial chromosomal deletion tmpak2llvmy_mondo_relaxed.owl chromosomal deletion syndrome DOID:0060388 Editor note: this is used in DOID to encompass typically partial deletions owl:Class MONDO:0003715 biolink:NamedThing bladder urachal carcinoma Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. tmpak2llvmy_mondo_relaxed.owl bladder urachal cancer|urachal carcinoma|bladder urachal carcinoma DOID:5958|NCIT:C39842|ONCOTREE:URCA|UMLS:C1511205|GARD:0007836|MESH:C536475 owl:Class MONDO:0004986 biolink:NamedThing urinary bladder carcinoma A carcinoma that arises from epithelial cells of the urinary bladder tmpak2llvmy_mondo_relaxed.owl bladder carcinoma|carcinoma of bladder|carcinoma of the urinary bladder|urinary bladder carcinoma|carcinoma bladder|cancer of bladder|carcinoma of urinary bladder|cancer of the bladder|cancer of the urinary bladder|carcinoma of the bladder|bladder cancer|urinary bladder cancer|cancer of urinary bladder DOID:4007|HP:0002862|SCTID:255108000|NCIT:C4912|EFO:0000292|UMLS:C0699885 owl:Class MONDO:0030037 biolink:NamedThing neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures tmpak2llvmy_mondo_relaxed.owl Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 owl:Class MONDO:0015343 biolink:NamedThing secondary acute transverse myelitis Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. tmpak2llvmy_mondo_relaxed.owl disease-associated transverse myelitis UMLS:CN199396|Orphanet:139420|ICD10:G37.3 owl:Class MONDO:0015342 biolink:NamedThing acute transverse myelitis Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). tmpak2llvmy_mondo_relaxed.owl Orphanet:139417|MESH:D009188|NCIT:C128378|ICD9:323.9|ICD10:G37.3|UMLS:C0270627|ICD9:341.20|SCTID:47000000 owl:Class MONDO:0024666 biolink:NamedThing benign epithelial skin neoplasm A form of epithelial skin neoplasm without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl benign skin epithelium tumor|epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign skin epithelium neoplasm|benign epithelial skin tumor NCIT:C7341|UMLS:C0345981 owl:Class GO:0032885 biolink:NamedThing regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7566 biolink:NamedThing MYF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010523 biolink:NamedThing X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. tmpak2llvmy_mondo_relaxed.owl amyloidosis, familial cutaneous|PDR|XLPDR|X-linked cutaneous amyloidosis|pigmentary disorder, reticulate, with systemic manifestations|Partington disease|pigmentary disorder, reticulate, with systemic manifestations, X-linked|familial cutaneous amyloidosis ICD10:E85.0+|ICD10:L99.0*|Orphanet:85453|MESH:C564461|SCTID:717224002|OMIM:301220 owl:Class MONDO:0015710 biolink:NamedThing immune dysregulation disease with immunodeficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:169361|UMLS:CN200214 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO_0015823 owl:Class UBERON:0004388 biolink:NamedThing epiphysis of fibula An epiphysis that is part of a fibula [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fibula epiphysis owl:Class MONDO:0012376 biolink:NamedThing autosomal recessive nonsyndromic deafness 55 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 55|deafness, autosomal recessive 55|DFNB55|autosomal recessive deafness 55 DOID:0110510|ICD10:H90.3|MESH:C538203|OMIM:609952|GARD:0009919 owl:Class GO:0042320 biolink:NamedThing regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. tmpak2llvmy_mondo_relaxed.owl regulation of REM sleep owl:Class GO:0045187 biolink:NamedThing regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpak2llvmy_mondo_relaxed.owl regulation of sleep owl:Class MONDO:0019556 biolink:NamedThing pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. tmpak2llvmy_mondo_relaxed.owl semicircular lipoatrophy|lipoatrophia semicircularis ICD10:E88.1|Orphanet:90160|SCTID:238898001|UMLS:CN227652 owl:Class MONDO:0019194 biolink:NamedThing localized lipodystrophy Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. tmpak2llvmy_mondo_relaxed.owl drug-induced localized lipodystrophy (subtype)|idiopathic localized lipodystrophy (subtype)|centrifugal lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype) GARD:0005867|NCIT:C131814|UMLS:CN227583|ICD10:E88.1|UMLS:C4329999|Orphanet:79088 https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy owl:Class UBERON:0001208 biolink:NamedThing submucosa of large intestine A submucosa that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine submucosa|tela submucosa intestini crassi|submucous layer of large intestine|large intestinal submucosa owl:Class UBERON:0009566 biolink:NamedThing intestinal submucosa A submucosa that is part of a intestine. tmpak2llvmy_mondo_relaxed.owl submucosa of intestine owl:Class GO:0048818 biolink:NamedThing positive regulation of hair follicle maturation Any process that activates or increases the frequency, rate or extent of hair follicle maturation. tmpak2llvmy_mondo_relaxed.owl up-regulation of hair follicle maturation|activation of hair follicle maturation|stimulation of hair follicle maturation|up regulation of hair follicle maturation|upregulation of hair follicle maturation owl:Class GO:0051798 biolink:NamedThing positive regulation of hair follicle development Any process that activates or increases the frequency, rate or extent of hair follicle development. tmpak2llvmy_mondo_relaxed.owl stimulation of hair follicle development|upregulation of hair follicle development|activation of hair follicle development|up-regulation of hair follicle development|up regulation of hair follicle development owl:Class MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl cervical hypertrichosis peripheral neuropathy|hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy GARD:0001226|UMLS:C2931676|UMLS:C1855902|OMIM:239840|Orphanet:2218|MESH:C565492 https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy owl:Class UBERON:0004254 biolink:NamedThing forelimb zeugopod muscle Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower arm muscle|muscle of forearm|wing zeugopod muscle|forearm muscle owl:Class MONDO:0024311 biolink:NamedThing cancer affecting bone of limb skeleton A cancer that involves the limb bone. tmpak2llvmy_mondo_relaxed.owl malignant limb bone neoplasm|cancer of limb bone|limb bone cancer|malignant neoplasm of limb bone ICD10:C40 owl:Class BFO:0000034 biolink:NamedThing function tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000016 biolink:NamedThing disposition tmpak2llvmy_mondo_relaxed.owl Disposition disposition BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) certain people have a predisposition to colon cancer|an atom of element X has the disposition to decay to an atom of element Y|children are innately disposed to categorize objects in certain ways.|the cell wall is disposed to filter chemicals in endocytosis and exocytosis (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] |(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) owl:Class MONDO:0004492 biolink:NamedThing mediastinitis An inflammatory process affecting the mediastinum. tmpak2llvmy_mondo_relaxed.owl ICD10:J98.51|NCIT:C26827|ICD9:519.2|UMLS:C0025064|ICD10:J98.5|SCTID:47597000|DOID:819|MESH:D008480 owl:Class MONDO:0003975 biolink:NamedThing Littre gland carcinoma A carcinoma involving a male urethral gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of male urethral gland|carcinoma of LittrC) glands|carcinoma of Littre glands|male urethral gland carcinoma|carcinoma of Littré glands DOID:6721|NCIT:C39865|UMLS:C1516285 owl:Class MONDO:0004197 biolink:NamedThing male urethral cancer A cancer involving a male urethra. tmpak2llvmy_mondo_relaxed.owl malignant male urethra neoplasm|cancer of male urethra|male urethra cancer|Male urethral malignant neoplasm|malignant neoplasm of male urethra DOID:736|NCIT:C39867|UMLS:C1518164 owl:Class MONDO:0001263 biolink:NamedThing histoplasmosis retinitis An retinitis caused by infection with Histoplasma capsulatum. tmpak2llvmy_mondo_relaxed.owl Histoplasma capsulatum caused retinitis|histoplasmosis with retinitis|Histoplasma capsulatum retinitis ICD9:115.92|DOID:11316|SCTID:187058000|UMLS:C0153278 owl:Class MONDO:0020010 biolink:NamedThing infectious disease of the nervous system A infectious disease that involves the nervous system. tmpak2llvmy_mondo_relaxed.owl nervous system infectious disorder|nervous system infectious disease Orphanet:98010|NCIT:C27590|UMLS:C0597039|SCTID:128116006|ICD9:349.89 owl:Class GO:0015136 biolink:NamedThing sialic acid transmembrane transporter activity Enables the transfer of sialic acid from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901505 biolink:NamedThing carbohydrate derivative transmembrane transporter activity Enables the transfer of carbohydrate derivative from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivative transporter activity owl:Class HGNC:2993 biolink:NamedThing DONSON tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004746 biolink:NamedThing myopathy of extraocular muscle A myopathy that involves the extra-ocular muscle. tmpak2llvmy_mondo_relaxed.owl myopathy of extra-ocular muscle|extra-ocular muscle myopathy|myopathy of extraocular muscles DOID:929|UMLS:C0155286|SCTID:57130002|ICD9:376.82|ICD10:H05.82 owl:Class MONDO:0005336 biolink:NamedThing myopathy A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. tmpak2llvmy_mondo_relaxed.owl ICD10:G72.9|DOID:423|SCTID:129565002|ICD9:728.3|ICD9:359.8|NCIT:C101216|UMLS:C0026848|EFO:0004145|ICD9:359.9|ICD10:M62.9|ICD10:M60-M63 Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition owl:Class MONDO:0002565 biolink:NamedThing myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. tmpak2llvmy_mondo_relaxed.owl spinal cord inflammation|inflammation of spinal cord DOID:322|NCIT:C26832|EFO:1001472|MESH:D009187|UMLS:C0026975|GARD:0007130|SCTID:41370002|ICD9:323.9 https://rarediseases.info.nih.gov/diseases/7130/myelitis owl:Class MONDO:0002545 biolink:NamedThing spinal cord disease A disease involving the spinal cord. tmpak2llvmy_mondo_relaxed.owl disorder of spinal cord|spinal cord disease|disease of the spinal cord|disease or disorder of spinal cord|spinal cord disease or disorder|myelopathy|disease of spinal cord|spinal cord disorder ICD9:336.8|MESH:D013118|UMLS:C0037928|NCIT:C97110|DOID:319|ICD9:336.9|ICD10:G95.9|SCTID:48522003 owl:Class MONDO:0010261 biolink:NamedThing microphthalmia, syndromic 2 tmpak2llvmy_mondo_relaxed.owl MCOPS2|ANOP2 (formerly)|microphthalmia, cataracts, radiculomegaly, and septal heart defects|MAA2 (formerly)|OFCD syndrome|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia cataracts radiculomegaly and septal heart defects|microphthalmia syndromic 2|syndromic microphthalmia type 2|microphthalmia, syndromic type 2|oculofaciocardiodental syndrome|microphthalmia, syndromic 2 ICD9:759.89|GARD:0004628|ICD10:Q87.8|OMIM:300166|SCTID:699300009|Orphanet:2712 https://github.com/monarch-initiative/mondo/issues/2999 owl:Class MONDO:0015336 biolink:NamedThing malformation syndrome with odontal and/or periodontal component tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN199366|Orphanet:139042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class UBERON:0002418 biolink:NamedThing cartilage tissue Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. tmpak2llvmy_mondo_relaxed.owl cartilaginous tissue|portion of cartilage tissue|cartilage tissue|cartilage|cartilages|chondrogenic tissue owl:Class UBERON:0004755 biolink:NamedThing skeletal tissue A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002513 biolink:NamedThing kidney benign neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the kidney|benign tumor of the kidney|benign kidney tumor|benign neoplasm of kidney|renal and ureteral tumor|benign renal neoplasm|kidney benign neoplasm|renal tumor, benign|benign tumor of kidney|renal neoplasm, benign|benign kidney neoplasm|benign renal tumor DOID:3116|ICD9:223.0|NCIT:C4778|SCTID:92165001|EFO:1000111 owl:Class MONDO:0004180 biolink:NamedThing benign urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. tmpak2llvmy_mondo_relaxed.owl benign urinary system neoplasm|benign neoplasm of the urinary tract|urinary tract neoplasm|tumor of the urinary system|urinary system benign neoplasm|tumor of urinary tract|neoplasm of urinary system|benign tumor of urinary tract|benign neoplasm of urinary tract|renal system benign neoplasm|benign urinary tract neoplasm|benign urinary tract tumor|benign tumor of the urinary tract ICD9:223.9|NCIT:C4893|MESH:D014571|DOID:731|SCTID:92468007|ICD9:223.89 owl:Class MONDO:0009025 biolink:NamedThing apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. tmpak2llvmy_mondo_relaxed.owl Ame1|cortisol 11-Beta-ketoreductase deficiency|apparent mineralocorticoid EXCESS|AME|apparent mineralocorticoid excess|AME 1|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|cortisol 11-beta-ketoreductase deficiency|ape|11-beta-hydroxysteroid dehydrogenase deficiency type 2|Ulick syndrome UMLS:C2936861|OMIM:218030|MESH:C537422|ICD10:E26.1|Orphanet:320|DOID:0090121|GARD:0000433|UMLS:CN203981|NCIT:C131083|UMLS:C3887949|SCTID:703256004 https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess owl:Class MONDO:0005495 biolink:NamedThing adrenal gland disease A disease involving the adrenal gland. tmpak2llvmy_mondo_relaxed.owl adrenal gland disease|adrenal gland diseases|adrenal gland disease or disorder|adrenal gland disorder|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorders|disorder of adrenal gland NCIT:C26690|MESH:D000307|ICD10:E27.9|ICD9:255|ICD9:255.9|EFO:0005539|ICD9:255.8|SCTID:30171000|DOID:9553 owl:Class MONDO:0100211 biolink:NamedThing growth hormone insensitivity with immune dysregulation 1, autosomal recessive tmpak2llvmy_mondo_relaxed.owl growth hormone insensitivity with immunodeficiency|Laron syndrome due to postreceptor defect|Laron syndrome with immunodeficiency|Laron-like syndrome|growth hormone insensitivity due to postreceptor defect|short stature due to STAT5b deficiency OMIM:245590|UMLS:C4510411|UMLS:C1855548|ICD10:D82.8|ICD10:E34.3|SCTID:724179008|Orphanet:220465|MESH:C537871 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0023369 biolink:NamedThing disease of facial skeleton A disease that involves the facial skeleton. tmpak2llvmy_mondo_relaxed.owl disorder of facial skeleton|maxillofacial anomaly|maxillo-facial disease|facial skeleton disease|disease of facial skeleton|disease or disorder of facial skeleton|facial skeleton disease or disorder owl:Class HGNC:10536 biolink:NamedThing SARDH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17284 biolink:NamedThing POT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006003 biolink:NamedThing uterine corpus cancer A malignant neoplasm involving the body of uterus. tmpak2llvmy_mondo_relaxed.owl cancer of body of uterus|malignant neoplasm of body of uterus|uterine corpus cancer|malignant body of uterus neoplasm|cancer of the corpus uteri|body of uterus cancer|uterine (including endometrial) cancer|corpus uteri cancer|endometrial cancer DOID:9460|ICD10:C54|NCIT:C61574|SCTID:371972005|ICD10:C54.9|EFO:0007532|ICD9:182 Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. owl:Class MONDO:0021254 biolink:NamedThing corpus uteri neoplasm A neoplasm (disease) that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl neoplasm of corpus uteri|neoplasm of uterine body|uterine body tumor|tumor of uterine body|tumor of body of uterus|tumor of the corpus uteri|neoplasm of the uterine corpus|tumor of uterine corpus|body of uterus tumor|tumor of the uterine corpus|neoplasm of the body of uterus|neoplasm of body of uterus|neoplasm of uterine corpus|tumor of corpus uteri|neoplasm of the corpus uteri|tumor of the uterine body|neoplasm of the uterine body|uterine corpus tumor|body of uterus neoplasm (disease)|body of uterus neoplasm|uterine corpus neoplasm|uterine body neoplasm|corpus uteri tumor SCTID:126909004|UMLS:C1263777|NCIT:C6300 MONDO:0021256|MONDO:0021255 owl:Class MONDO:0014263 biolink:NamedThing 8q24.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 8Q24.3 deletion syndrome|VRJS|Verheij syndrome Orphanet:508488|UMLS:C3810023|OMIM:615583|GARD:0012814 owl:Class MONDO:0015335 biolink:NamedThing orofacial clefting syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN199365|Orphanet:139039 owl:Class MONDO:0010594 biolink:NamedThing inherited genitourinary tract anomalies tmpak2llvmy_mondo_relaxed.owl inherited genitourinary tract anomalies (disease)|genitourinary tract anomalies inherited genitourinary tract anomalies (disease) MESH:C564424|HP:0000119|OMIM:305690 owl:Class MONDO:0021145 biolink:NamedThing disease of genitourinary system A disease that involves the genitourinary system. tmpak2llvmy_mondo_relaxed.owl urogenital disorder|disease of genitourinary system|syndrome of the genitourinary system|genitourinary system disease or disorder|urogenital disease|disease or disorder of genitourinary system|disorder of genitourinary system|genitourinary system disease|disorder of the genitourinary system UMLS:C0080276|ICD10:N00.N99|SCTID:42030000 owl:Class MONDO:0012231 biolink:NamedThing Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth neuropathy, type 2A2|Charcot-Marie-Tooth disease, neuronal, type 2A2|MFN2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|HMSN IIa2|CMT2A2A|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|CMT2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|hereditary motor and sensory neuropathy IIA2|hereditary motor and sensory neuropathy IIa2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|HMSN2A2|HMSN IIA2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|Charcot-Marie-Tooth neuronal type 2A2 NCIT:C150646|UMLS:C1836485|DOID:0110155|OMIM:609260|Orphanet:99947|SCTID:764850002|MESH:C563757|ICD10:G60.0 owl:Class GO:0050309 biolink:NamedThing sugar-terminal-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. tmpak2llvmy_mondo_relaxed.owl xylitol-5-phosphatase activity|sugar-omega-phosphate phosphohydrolase activity owl:Class GO:0050308 biolink:NamedThing sugar-phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. tmpak2llvmy_mondo_relaxed.owl sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity owl:Class MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. tmpak2llvmy_mondo_relaxed.owl RCDP|rhizomelic chondrodysplasia punctata syndrome|rhizomelic dwarfism|chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata SCTID:56692003|UMLS:C0282529|MESH:D018902|ICD10:Q77.3|ICD10:E71.540|OMIMPS:215100|Orphanet:177|DOID:2580|GARD:0013160|NCIT:C85047 https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata owl:Class MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis tmpak2llvmy_mondo_relaxed.owl disorder of plasmalogens biosynthesis Orphanet:3276|UMLS:CN237437 owl:Class HGNC:9940 biolink:NamedThing RDH5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019669 biolink:NamedThing hypochondrogenesis tmpak2llvmy_mondo_relaxed.owl ICD10:Q77.0|DOID:0080044|Orphanet:93297 owl:Class MONDO:0023603 biolink:NamedThing hereditary disorder of connective tissue An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. tmpak2llvmy_mondo_relaxed.owl hereditary connective tissue disorder|connective tissue hereditary disorder|Mendelian connective tissue disorder|Inherited disorder of connective tissue|Hereditary Connective Tissue Disorder|inherited disorder of connective tissue UMLS:C0410787|SCTID:363045008|NCIT:C97075 https://github.com/monarch-initiative/mondo/issues/3606 owl:Class MONDO:0015426 biolink:NamedThing Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. tmpak2llvmy_mondo_relaxed.owl micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|DBQD|Desbuquois dysplasia|desbuquois syndrome DOID:0060462|UMLS:CN239270|UMLS:C0432242|ICD10:Q78.8|ICD9:756.9|GARD:0001818|Orphanet:1425|NCIT:C124056|SCTID:254099008|OMIMPS:251450 owl:Class PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. tmpak2llvmy_mondo_relaxed.owl compressed owl:Class PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16257 biolink:NamedThing TUBB1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051224 biolink:NamedThing negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down regulation of protein transport|downregulation of protein transport|down-regulation of protein transport|inhibition of protein transport owl:Class GO:1904950 biolink:NamedThing negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. tmpak2llvmy_mondo_relaxed.owl down regulation of establishment of protein localization|inhibition of establishment of protein localisation|inhibition of protein positioning|down regulation of protein recruitment|downregulation of protein positioning|negative regulation of establishment of protein localisation|down regulation of protein positioning|inhibition of establishment of protein localization|downregulation of establishment of protein localisation|down-regulation of protein positioning|down-regulation of establishment of protein localization|negative regulation of protein recruitment|inhibition of protein recruitment|down regulation of establishment of protein localisation|downregulation of protein recruitment|down-regulation of protein recruitment|down-regulation of establishment of protein localisation|downregulation of establishment of protein localization|negative regulation of protein positioning owl:Class HGNC:18746 biolink:NamedThing SLURP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004398 biolink:NamedThing mediastinal schwannoma A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. tmpak2llvmy_mondo_relaxed.owl neurilemmoma of mediastinum|mediastinal schwannoma|schwannoma of mediastinum|benign schwannoma of mediastinum|benign mediastinal neurilemmoma|mediastinum schwannoma|benign schwannoma of the mediastinum|schwannoma of the mediastinum|mediastinal neurilemmoma|benign neurilemmoma of mediastinum|neurilemmoma of the mediastinum|benign mediastinal schwannoma|benign neurilemmoma of the mediastinum NCIT:C6643|DOID:7922|UMLS:C1334679|DOID:6175 owl:Class MONDO:0021521 biolink:NamedThing benign neoplasm of mediastinum A benign neoplasm that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl benign mediastinal tumor|benign tumor of the mediastinum|benign tumor of mediastinum|benign mediastinal neoplasm|benign neoplasm of the mediastinum|mediastinum benign neoplasm NCIT:C3604|SCTID:92214000|ICD9:212.5|UMLS:C0153956|ICD10:D15.2 owl:Class MONDO:0020210 biolink:NamedThing syndromic hyperopia A hyperopia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic hyperopia|syndrome associated with hyperopia Orphanet:98622|UMLS:CN227820 owl:Class MONDO:0004891 biolink:NamedThing hyperopia A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl hypermetropia|Far-sightedness DOID:9834|ICD10:H52.0|ICD9:367.0|MESH:D006956|SCTID:38101003|UMLS:C0020490 owl:Class MONDO:0004853 biolink:NamedThing gonococcal endophthalmia tmpak2llvmy_mondo_relaxed.owl UMLS:C0153213|ICD10:A54.39|ICD9:098.42|SCTID:111807001|DOID:9698 owl:Class MONDO:0000527 biolink:NamedThing colon adenoma An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpak2llvmy_mondo_relaxed.owl adenoma of the colon|adenoma of colon|colonic adenoma|colon adenoma DOID:0050912|UMLS:C0850572|NCIT:C3864 owl:Class MONDO:0012923 biolink:NamedThing congenital generalized lipodystrophy type 3 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. tmpak2llvmy_mondo_relaxed.owl CAV1 congenital generalized lipodystrophy (disease)|type 3 Berardinelli-Seip congenital lipodystrophy|Berardinelli-Seip congenital lipodystrophy, type 3|lipodystrophy, Berardinelli-Seip congenital, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1|Berardinelli-Seip congenital lipodystrophy type 3|BSCL3|lipodystrophy, congenital generalized, type 3|CGL3 ICD10:E88.1|OMIM:612526|DOID:0111137|MESH:C567282|UMLS:C2675861|GARD:0013389 https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 owl:Class MONDO:0018883 biolink:NamedThing Berardinelli-Seip congenital lipodystrophy Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. tmpak2llvmy_mondo_relaxed.owl total lipodystrophy|Seip-Bernardinelli syndrome|GCL|generalized congenital lipodystrophy|Berardinelli Seip syndrome|Lawrence-Seip syndrome|Berardinelli lipodystrophy syndrome|BSCL|Brunzell syndrome|congenital Generalized lipodystrophy|lipoatrophic diabetes|Beradinelli-Seip syndrome NCIT:C84594|SCTID:127012008|ICD10:E88.1|MedDRA:10024603|Orphanet:528|ICD9:250.80 owl:Class MONDO:0007995 biolink:NamedThing microphthalmia, isolated, with cataract 1 tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with cataract 1|congenital cataract with microphthalmia|microphthalmia with cataract 1|cataract, congenital, with microphthalmia|MCOPCT1 MESH:C563582|UMLS:C1834919|OMIM:156850|GARD:0009610 owl:Class MONDO:0016764 biolink:NamedThing isolated anophthalmia-microphthalmia syndrome Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. tmpak2llvmy_mondo_relaxed.owl clinical anophthalmia|MAC spectrum|isolated anophthalmia - microphthalmia|nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|isolated pure microphthalmia ICD10:Q11.2|UMLS:CN202019|Orphanet:2542|ICD10:Q11.0|GARD:0012085|ICD10:Q11.1 owl:Class NCBITaxon:317865 biolink:NamedThing Rickettsia conorii subsp. indica tmpak2llvmy_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:781 biolink:NamedThing Rickettsia conorii tmpak2llvmy_mondo_relaxed.owl PMID:15879256|GC_ID:11|PMID:15766388 ncbi_taxonomy owl:Class UBERON:0000331 biolink:NamedThing ileal mucosa A mucosa that is part of a ileum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ileum mucosa of organ|mucous membrane of ileum|ileal mucous membrane|organ mucosa of ileum|ileum mucosa|ileum organ mucosa|mucosa of ileum|mucosa of organ of ileum|ileum mucous membrane owl:Class UBERON:0003258 biolink:NamedThing endoderm of foregut An endoderm that is part of a foregut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foregut endoderm owl:Class UBERON:0005911 biolink:NamedThing endo-epithelium Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA] tmpak2llvmy_mondo_relaxed.owl endoepithelium|endoderm-derived epithelium owl:Class MONDO:0008669 biolink:NamedThing vulvovaginitis, allergic seminal tmpak2llvmy_mondo_relaxed.owl vulvovaginitis, allergic seminal OMIM:193450|UMLS:C1860357|MESH:C565993 owl:Class MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. tmpak2llvmy_mondo_relaxed.owl type I hypersensitivity disease|allergic reaction|allergic disease or disorder|hypersensitivity reaction type I disease|disorder of type I hypersensitivity|allergic response|hypersensitivity|allergic hypersensitivity disease|allergic form of immune system disease|allergic form of disease or disorder|allergy EFO:0003785|NCIT:C114476|MESH:D006967|ICD9:995.3|DOID:1205|UMLS:C1527304|SCTID:609328004|ICD10:T78.40|ICD9:V15.09 owl:Class CHEBI:33583 biolink:NamedThing noble gas molecular entity A main group molecular entity containing one or more atoms of any noble gas. tmpak2llvmy_mondo_relaxed.owl noble gas compounds|noble gas molecular entity|noble gas molecular entities owl:Class CHEBI:33579 biolink:NamedThing main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. tmpak2llvmy_mondo_relaxed.owl main group compounds|main group molecular entities owl:Class MONDO:0033649 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 14 tmpak2llvmy_mondo_relaxed.owl MC4DN14 OMIM:619058 owl:Class MONDO:0033885 biolink:NamedThing mitochondrial complex IV deficiency, nuclear-type tmpak2llvmy_mondo_relaxed.owl OMIMPS:220110 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016924 biolink:NamedThing partial duplication of chromosome 4 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 4|partial trisomy of chromosome 4 SCTID:726342002|Orphanet:262206 owl:Class UBERON:0010171 biolink:NamedThing strand of hair of face A strand of hair that is part of a face. tmpak2llvmy_mondo_relaxed.owl hair of face|face hair|facial hair|face hair strand owl:Class UBERON:0016446 biolink:NamedThing hair of head A strand of hair that is part of a head. tmpak2llvmy_mondo_relaxed.owl hair of scalp|head hair owl:Class MONDO:0017882 biolink:NamedThing Omsk hemorrhagic fever Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. tmpak2llvmy_mondo_relaxed.owl ICD9:065.1|GARD:0008254|MESH:D006481|Orphanet:319266|DOID:992|SCTID:48113006|MedDRA:10030310|UMLS:C0019103|ICD10:A98.1 https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever owl:Class MONDO:0018087 biolink:NamedThing viral hemorrhagic fever A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. tmpak2llvmy_mondo_relaxed.owl VHF|hemorrhagic fever|VHFs|haemorrhagic fever|hemorrhagic fevers|viral haemorrhagic fever|haemorrhagic fevers, viral UMLS:C0019104|NCIT:C36170|MESH:D006482|GARD:0005494|SCTID:240523007|UMLS:CN204409|Orphanet:341 https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever owl:Class GO:0030334 biolink:NamedThing regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000145 biolink:NamedThing regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. tmpak2llvmy_mondo_relaxed.owl regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell owl:Class HGNC:5228 biolink:NamedThing DNAJB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. tmpak2llvmy_mondo_relaxed.owl Inflammation of the lymph nodes MSH:D008199|UMLS:C0024205|SNOMEDCT_US:19471005 human_phenotype owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022803 peter 2014-02-01T01:29:58Z human_phenotype owl:Class MONDO:0011219 biolink:NamedThing Fried's tooth and nail syndrome tmpak2llvmy_mondo_relaxed.owl ECTD8|ectodermal dysplasia 8, hair/tooth/nail type DOID:0111661|UMLS:C0406715|SCTID:239020008|Orphanet:99672|OMIM:602401 owl:Class PATO:0002070 biolink:NamedThing affinity A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. tmpak2llvmy_mondo_relaxed.owl relational molecular quality owl:Class CHEBI:36685 biolink:NamedThing chlorocarboxylic acid A carboxylic acid containing at least one chloro group. tmpak2llvmy_mondo_relaxed.owl chlorocarboxylic acids owl:Class CHEBI:33575 biolink:NamedThing carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. tmpak2llvmy_mondo_relaxed.owl Karbonsaeure|acido carboxilico|carboxylic acid|acide carboxylique|Carbonsaeure|Carbonsaeuren|RC(=O)OH|acidos carboxilicos|acides carboxyliques|carboxylic acids owl:Class UBERON:0002423 biolink:NamedThing hepatobiliary system The part of the digestive system that contains the liver and the biliary system tmpak2llvmy_mondo_relaxed.owl liver and biliary system|hepaticobiliary system|liver/biliary system owl:Class MONDO:0002603 biolink:NamedThing angiomyolipoma A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. tmpak2llvmy_mondo_relaxed.owl angiomyolipoma (morphologic abnormality) UMLS:C0206633|DOID:3314|NCIT:C3734|ICDO:8860/0|GARD:0012024|MESH:D018207 owl:Class MONDO:0006359 biolink:NamedThing neoplasm with perivascular epithelioid cell differentiation A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. tmpak2llvmy_mondo_relaxed.owl tumor with perivascular epithelioid cell differentiation|neoplasm with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor UMLS:C1300127|DOID:2643|NCIT:C38150|ONCOTREE:PECOMA|Orphanet:595133|ICD10:D21.9|MESH:D054973|EFO:1000464 MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). owl:Class HsapDv:0000136 biolink:NamedThing 42-year-old human stage Adult stage that refers to an adult who is over 42 and under 43. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009318 biolink:NamedThing Hallermann-Streiff syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. tmpak2llvmy_mondo_relaxed.owl Hallerman - Streiff syndrome|HSS|Hallermann Streiff Francois syndrome|Hallermann syndrome|François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Hallermann Streiff syndrome|Francois dyscephalic syndrome|Hallermann-Streiff syndrome|oculomandibulofacial syndrome|Hallermann's syndrome GARD:0000288|ICD10:Q87.0|OMIM:234100|UMLS:C0018522|DOID:4534|NCIT:C84746|Orphanet:2108|MESH:D006210|SCTID:7903009 https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome owl:Class MONDO:0015293 biolink:NamedThing segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. tmpak2llvmy_mondo_relaxed.owl SOLAMEN syndrome SCTID:763867001|Orphanet:137608|UMLS:CN199243 owl:Class MONDO:0016235 biolink:NamedThing complex vascular malformation with associated anomalies tmpak2llvmy_mondo_relaxed.owl hemangiolymphangioma 2022-03-01 Orphanet:211277 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular anomaly' MONDO_0019063 owl:Class MONDO:0019896 biolink:NamedThing Kleefstra syndrome due to 9q34 microdeletion tmpak2llvmy_mondo_relaxed.owl Kleefstra syndrome due to 9q subtelomeric deletion|Kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|9qSTDS|Kleefstra syndrome due to monosomy 9q34 UMLS:CN206831|Orphanet:96147|ICD10:Q87.8 owl:Class MONDO:0002105 biolink:NamedThing toxic megacolon An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. tmpak2llvmy_mondo_relaxed.owl ICD9:564.7|MESH:D008532|SCTID:28536002|DOID:1770|ICD10:K59.3|UMLS:C0025162|ICD10:K59.31 owl:Class MONDO:0001273 biolink:NamedThing megacolon An abnormal dilation of the colon not due to obstruction. tmpak2llvmy_mondo_relaxed.owl dilatation of colon NCIT:C34810|ICD10:K59.3|MESH:D008531|SCTID:33995003|DOID:11372|ICD9:564.7 owl:Class MONDO:0060690 biolink:NamedThing phenytoin toxicity tmpak2llvmy_mondo_relaxed.owl arene oxide detoxification defect|fetal hydantoin syndrome|phenytoin toxicity|diphenylhydantoin, defect in hydroxylation of OMIM:617955 owl:Class UBERON:0007252 biolink:NamedThing intervertebral disk of cervical vertebra An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra tmpak2llvmy_mondo_relaxed.owl cervical intervertebral disc|intervertebral disc of cervical region owl:Class UBERON:2001457 biolink:NamedThing postcranial axial cartilage Cartilage which is part of the axial skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000931 biolink:NamedThing endometrial disease A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. tmpak2llvmy_mondo_relaxed.owl disorder of endometrium|endometrium disease|disease or disorder of endometrium|disease of endometrium|endometrial disorder|endometrium disease or disorder NCIT:C3504|DOID:1005|SCTID:418632009 owl:Class MONDO:0014276 biolink:NamedThing combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency due to CD3gamma deficiency|immunodeficiency type 17|immunodeficiency 17|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|CD3 deficiency|CD3gamma deficiency|IMD17|CD3-gamma deficiency DOID:0060018|UMLS:C3810107|GARD:0009521|OMIM:615607|Orphanet:169082|SCTID:725135004|UMLS:C4510864|ICD10:D81.2 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency owl:Class MONDO:0018814 biolink:NamedThing non-severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl non-SCID Orphanet:480549 owl:Class MONDO:0016561 biolink:NamedThing 1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. tmpak2llvmy_mondo_relaxed.owl Del(1)(q44)|monosomy 1q44|chromosome 1q44 microdeletion syndrome GARD:0010943|UMLS:C4304540|UMLS:CN201644|SCTID:719649004|Orphanet:238769|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome owl:Class MONDO:0016900 biolink:NamedThing partial deletion of the long arm of chromosome 1 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 1|partial deletion of the long arm of chromosome type 1|partial monosomy of chromosome 1q|partial deletion of chromosome 1q 2021-01-01 Orphanet:262001|ICD10:Q93.5 Reason: duplicate. This will be merged with MONDO:0022756 chromosome 1q deletion owl:Class MONDO:0005665 biolink:NamedThing Bell's palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. tmpak2llvmy_mondo_relaxed.owl facial palsy|paralysis Of Facial nerve|Bell's (facial) palsy|facial nerve paralysis|Bell palsy|nerve paralysis, Facial|facial nerve palsy|palsy of facial nerve UMLS:C0376175|ICD9:351.0|MESH:D020330|SCTID:193093009|DOID:12506|EFO:0007167|NCIT:C26769|ICD10:G51.0|GARD:0005906 owl:Class MONDO:0004743 biolink:NamedThing hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. tmpak2llvmy_mondo_relaxed.owl hyperhomocysteinemia|homocysteinemia MESH:D020138|UMLS:C0598608|SCTID:419503008|NCIT:C84770|GARD:0008230|DOID:9279|UMLS:C3495426|OMIM:603174 https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia|https://github.com/monarch-initiative/mondo/issues/3247 owl:Class MONDO:0004737 biolink:NamedThing homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. tmpak2llvmy_mondo_relaxed.owl cystathionine synthase deficiency|cystathionine beta synthase deficiency|homocystinuria (disease)|CBS deficiency|homocystinuria homocystinuria (disease) GARD:0010770|NCIT:C84765|UMLS:C0019880|SCTID:11282001|ICD10:E72.11|HP:0002156|DOID:9263 owl:Class MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. tmpak2llvmy_mondo_relaxed.owl NCM|melanosis, neurocutaneous|NCMS|neurocutaneous melanosis|neurocutaneous melanosis syndrome|Neuromelanosis ICD10:D22.3|Orphanet:2481|ICD10:D22.6|MESH:C537387|ICD10:D22.4|OMIM:249400|ICD10:D22.7|GARD:0007186|ICD10:D22.5 owl:Class MONDO:0005073 biolink:NamedThing melanocytic nevus A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. tmpak2llvmy_mondo_relaxed.owl mole of skin|melanocytic Nevus|melanotic Nevus|nevus|mole Wikipedia:Nevus|EFO:0000625|SCTID:400096001|NCIT:C7570|MESH:D009506 owl:Class MONDO:0003115 biolink:NamedThing subglottic hemangioma A hemangioma arising from the subglottic area. tmpak2llvmy_mondo_relaxed.owl angioma of subglottis|subglottic hemangioma|subglottic angioma|subglottis hemangioma|subglottis angioma|hemangioma of the subglottis|hemangioma of subglottis|angioma of the subglottis NCIT:C6026|UMLS:C1336518|DOID:472 owl:Class MONDO:0021530 biolink:NamedThing benign neoplasm of subglottis A benign neoplasm that involves the subglottis. tmpak2llvmy_mondo_relaxed.owl benign subglottis tumor|benign neoplasm of the subglottis|subglottis benign neoplasm|benign subglottis neoplasm|benign subglottic neoplasm|benign tumor of the subglottis|benign subglottic tumor|benign tumor of subglottis SCTID:92412003|UMLS:C0345749|NCIT:C4427 owl:Class MONDO:0012676 biolink:NamedThing autosomal recessive osteopetrosis 4 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. tmpak2llvmy_mondo_relaxed.owl osteopetrosis, infantile malignant 2|autosomal recessive osteopetrosis type 4|infantile malignant osteopetrosis 2|osteopetrosis infantile malignant 2|autosomal recessive osteopetrosis caused by mutation in CLCN7|OPTB4|CLCN7 autosomal recessive malignant osteopetrosis|CLCN7 autosomal recessive osteopetrosis|osteopetrosis, autosomal recessive 4|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|osteopetrosis, autosomal recessive type 4|osteopetrosis autosomal recessive 4 MESH:C566933|GARD:0005993|OMIM:611490|DOID:0110944 https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 owl:Class MONDO:0019026 biolink:NamedThing autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. tmpak2llvmy_mondo_relaxed.owl autosomal recessive malignant osteopetrosis|malignant osteopetrosis|autosomal recessive osteopetrosis|autosomal recessive osteopetrosis (disease)|OPTB|infantile malignant osteopetrosis|osteopetrosis (disease), autosomal recessive SCTID:367489004|OMIMPS:259700|Orphanet:667|ICD10:Q78.2|NCIT:C129733 owl:Class MONDO:0003916 biolink:NamedThing overnutrition An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. tmpak2llvmy_mondo_relaxed.owl ICD9:278.8|UMLS:C1257763|SCTID:302872003|DOID:654|MESH:D044343 owl:Class MONDO:0005137 biolink:NamedThing nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. tmpak2llvmy_mondo_relaxed.owl nutritional disorder|nutrition disease DOID:374|SCTID:2492009|ICD9:783.9|MESH:D009748|EFO:0001069|UMLS:C3714509|NCIT:C26836 owl:Class MONDO:0011789 biolink:NamedThing familial meningioma A meningioma that is transmitted from the parents to an offspring. tmpak2llvmy_mondo_relaxed.owl familial meningioma|hereditary meningioma|hereditary meningioma (disease)|susceptibility to familial meningioma|meningioma, familial, susceptibility to OMIM:607174|UMLS:C1333989|NCIT:C5301|DOID:4586|MESH:C537443 owl:Class GO:0031328 biolink:NamedThing positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular biosynthesis|positive regulation of cellular formation|up regulation of cellular biosynthetic process|positive regulation of cellular anabolism|upregulation of cellular biosynthetic process|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|up-regulation of cellular biosynthetic process|activation of cellular biosynthetic process owl:Class GO:0031326 biolink:NamedThing regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation owl:Class MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome tmpak2llvmy_mondo_relaxed.owl CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA|CAPOK Orphanet:447961|UMLS:CN237716|OMIM:618373 owl:Class MONDO:0009791 biolink:NamedThing oral sensibility, disturbance of tmpak2llvmy_mondo_relaxed.owl impairment of oral perception|oral sensibility, disturbance of|disturbance of oral sensitivity OMIM:258800|GARD:0009476 https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception owl:Class MONDO:0018185 biolink:NamedThing congenital anomaly of the great veins tmpak2llvmy_mondo_relaxed.owl Orphanet:363189 owl:Class MONDO:0019512 biolink:NamedThing congenital heart malformation A disease that has its basis in the disruption of heart development. tmpak2llvmy_mondo_relaxed.owl congenital non-syndromic heart malformation|heart development disease|disorder of heart development|rare congenital non-syndromic heart malformation|congenital heart malformation EFO:0005269|Orphanet:88991 owl:Class GO:0045621 biolink:NamedThing positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation|stimulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|upregulation of lymphocyte differentiation owl:Class GO:0051053 biolink:NamedThing negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpak2llvmy_mondo_relaxed.owl downregulation of DNA metabolic process|inhibition of DNA metabolic process|down-regulation of DNA metabolic process|down regulation of DNA metabolic process|negative regulation of DNA metabolism owl:Class NCBITaxon:43786 biolink:NamedThing Culicomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7148 biolink:NamedThing Nematocera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0002686 biolink:NamedThing negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. tmpak2llvmy_mondo_relaxed.owl down regulation of leukocyte migration|inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration owl:Class OBO:CHR_9606-chrXq27 biolink:NamedThing chrXq27 (Human) tmpak2llvmy_mondo_relaxed.owl 148000000 138900000 hg38 owl:Class CHEBI:16042 biolink:NamedThing halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. tmpak2llvmy_mondo_relaxed.owl halide(1-)|a halide anion|Halide|halogen anion|halides|halide anions|halide ions|HX owl:Class CHEBI:79389 biolink:NamedThing monovalent inorganic anion Any inorganic anion with a valency of one. tmpak2llvmy_mondo_relaxed.owl monovalent inorganic anions owl:Class MONDO:0044651 biolink:NamedThing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:496756 owl:Class MONDO:0015363 biolink:NamedThing autosomal recessive distal hereditary motor neuropathy Autosomal recessive form of distal hereditary motor neuropathy. tmpak2llvmy_mondo_relaxed.owl distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dSMA|autosomal recessive dHMN|autosomal recessive distal spinal muscular atrophy DOID:0111197|Orphanet:140468|ICD10:G12.2|UMLS:CN228931 owl:Class UBERON:0011777 biolink:NamedThing nucleus of spinal cord A neural nucleus that is part of the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord nucleus owl:Class UBERON:0000125 biolink:NamedThing neural nucleus A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) tmpak2llvmy_mondo_relaxed.owl nervous system nucleus|neuronal nucleus|nucleus|neuraxis nucleus|nucleus of CNS|nucleus of neuraxis owl:Class MONDO:0020461 biolink:NamedThing epiblepharon tmpak2llvmy_mondo_relaxed.owl SCTID:253212001|ICD10:Q10.3|Orphanet:99169|ICD9:743.63 owl:Class MONDO:0020158 biolink:NamedThing eyelids malposition disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:98567|UMLS:CN227803 owl:Class HGNC:9949 biolink:NamedThing RECQL4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001523 biolink:NamedThing retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. tmpak2llvmy_mondo_relaxed.owl retinoid metabolism owl:Class GO:0016101 biolink:NamedThing diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. tmpak2llvmy_mondo_relaxed.owl diterpenoid metabolism|diterpene metabolism|diterpene metabolic process owl:Class HGNC:5330 biolink:NamedThing IARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024416 biolink:NamedThing Neorickettsia infectious disease A disease caused by infection with Neorickettsia. tmpak2llvmy_mondo_relaxed.owl Neorickettsia disease or disorder|Neorickettsia caused disease or disorder|neorickettsiosis UMLS:C0276121|SCTID:78355003 owl:Class MONDO:0017879 biolink:NamedThing hantavirus pulmonary syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. tmpak2llvmy_mondo_relaxed.owl HARDS|Hantavirus-associated respiratory distress syndrome|Hantavirus|four corners hantavirus ICD9:480.8|ICD10:J17.1*|ICD10:B33.4+|NCIT:C84747|EFO:0007296|UMLS:C0243025|SCTID:120639003|GARD:0000069|MedDRA:10019143|Orphanet:319247|DOID:14472|MESH:D018804 owl:Class MONDO:0005780 biolink:NamedThing hantavirus infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. tmpak2llvmy_mondo_relaxed.owl infections, Hantavirus|Hantavirus disease or disorder|disease due to hantavirus|disease caused by hantavirus|Hantavirus infection|Hantavirus infectious disease|Hantavirus caused disease or disorder NCIT:C3899|EFO:0007295|MESH:D018778|UMLS:C0242994|SCTID:359761005|ICD9:079.81 MONDO:0042492 owl:Class UBERON:0008876 biolink:NamedThing hypodermis skeletal muscle layer Any skeletal muscle organ in the hypodermis / superficial fascia tmpak2llvmy_mondo_relaxed.owl superficial fascia muscular layer|hypodermal muscle layer|panniculus carnosus|hypodermis muscle layer owl:Class UBERON:0004253 biolink:NamedThing skin muscle Any muscle organ that is part of a skin of body [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of skin|muscle of integumental system|integumental system muscle|skin muscle organ owl:Class GO:1903295 biolink:NamedThing negative regulation of glutamate secretion, neurotransmission Any process that stops, prevents or reduces the frequency, rate or extent of glutamate secretion, neurotransmission. tmpak2llvmy_mondo_relaxed.owl inhibition of glutamate secretion, neurotransmission|down regulation of glutamate secretion, neurotransmission|down-regulation of glutamate secretion, neurotransmission|downregulation of glutamate secretion, neurotransmission owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). tmpak2llvmy_mondo_relaxed.owl Abnormal blood clot|Abnormal blood clotting UMLS:C4025731 human_phenotype owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hematopoietic system|Haematological abnormality|Abnormality of the haematopoietic system|Abnormality of blood and blood-forming tissues|Hematologic disease|Hematological abnormality UMLS:C0850715|MSH:D006402|UMLS:C0018939|SNOMEDCT_US:191124002|UMLS:C4020864|SNOMEDCT_US:34093004 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 human_phenotype owl:Class MONDO:0006505 biolink:NamedThing basal ganglia cerebrovascular disease A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). tmpak2llvmy_mondo_relaxed.owl cerebrovascular disorder of collection of basal ganglia|collection of basal ganglia cerebrovascular disorder MESH:D020144|DOID:10991|UMLS:C0751739|EFO:1000640 owl:Class MONDO:0011057 biolink:NamedThing cerebrovascular disorder A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. tmpak2llvmy_mondo_relaxed.owl CVA|CVA (cerebral vascular accident)|cerebrovascular disease|cerebral infarction|cerebrovascular disorder|stroke|cerebrovascular accident UMLS:C0007820|ICD10:I60.I69|SCTID:62914000|DOID:6713|MESH:D002561|ICD10:I63.9|ICD9:434.91|ICD9:437.8|ICD9:437.9|NCIT:C2938|ICD10:I60-I69|ICD9:430-438.99|ICD10:I67.9|EFO:0003763 owl:Class GO:0048844 biolink:NamedThing artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. tmpak2llvmy_mondo_relaxed.owl arterial morphogenesis|arteriogenesis owl:Class GO:0048514 biolink:NamedThing blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905215 biolink:NamedThing negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA binding|downregulation of RNA binding|down-regulation of RNA binding|down regulation of RNA binding owl:Class GO:0051100 biolink:NamedThing negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpak2llvmy_mondo_relaxed.owl downregulation of binding|down-regulation of binding|inhibition of binding|down regulation of binding owl:Class MONDO:0006150 biolink:NamedThing colon Burkitt lymphoma A rare Burkitt lymphoma that arises from the colon. tmpak2llvmy_mondo_relaxed.owl colon Burkitt lymphoma|colon Burkitts lymphoma|primary colon Burkitt's lymphoma|Burkitts lymphoma of colon|Burkitt lymphoma of colon|colon Burkitt's lymphoma UMLS:C1333083|EFO:1000182|NCIT:C27465 owl:Class MONDO:0023113 biolink:NamedThing familial colorectal cancer Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. tmpak2llvmy_mondo_relaxed.owl hereditary colorectal cancer|colorectal cancer, familial UMLS:CN029768|GARD:0008533 https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer owl:Class MONDO:0019498 biolink:NamedThing tungiasis An disease or disorder caused by infection with Tunga penetrans. tmpak2llvmy_mondo_relaxed.owl T penetrans|Tunga penetrans caused disease or disorder|Tunga penetrans|chigger flea|Tunga penetrans infectious disease|S penetrans|Tunga penetrans disease or disorder|Sarcopsylla penetrans DOID:0050266|EFO:1001445|GARD:0000393|MESH:D058285|ICD9:134.1|ICD10:B88.1|SCTID:64612002|UMLS:C0277356|Orphanet:879 https://rarediseases.info.nih.gov/diseases/393/tungiasis owl:Class MONDO:0002875 biolink:NamedThing parasitic ectoparasitic infectious disease Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. tmpak2llvmy_mondo_relaxed.owl ectoparasitic infestation|infestation, ectoparasitic|Infestations, ectoparasitic|ectoparasitism MESH:D004478|UMLS:C0013578|DOID:4110 owl:Class MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. tmpak2llvmy_mondo_relaxed.owl CDG syndrome type 3|CDG III|CDG syndrome type III|COG5-CDG (CDG-III)|carbohydrate deficient glycoprotein syndrome type III|congenital disorder of glycosylation type III|congenital disorder of glycosylation type 2i|congenital disorder of glycosylation, type III|CDG2I|CDG-III GARD:0012348|DOID:0070261|ICD10:E77.8|OMIM:613612|Orphanet:263487|UMLS:C3150876|SCTID:721100009|GARD:0001173 https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 owl:Class MONDO:0015919 biolink:NamedThing syndromic neurometabolic disease with non-X-linked intellectual disability tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200517|Orphanet:182073 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class GO:0071305 biolink:NamedThing cellular response to vitamin D Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to calciferol|cellular response to cholecalciferol|cellular response to ergocalciferol owl:Class GO:1901701 biolink:NamedThing cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to oxygen molecular entity owl:Class MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. tmpak2llvmy_mondo_relaxed.owl SAVI|STING-associated vasculopathy, infantile-onset Orphanet:425120|UMLS:C4040879|ICD10:M35.8|UMLS:C4014722|SCTID:711164003|DOID:0111457|OMIM:615934|GARD:0012357|ICD9:279.8 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy owl:Class GO:0043244 biolink:NamedThing regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl regulation of protein complex disassembly owl:Class GO:0007586 biolink:NamedThing digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032501 biolink:NamedThing multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. tmpak2llvmy_mondo_relaxed.owl organismal physiological process|single-multicellular organism process owl:Class MONDO:0007724 biolink:NamedThing hirsutism-skeletal dysplasia-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl hirsutism skeletal dysplasia intellectual disability syndrome|hirsutism, skeletal dysplasia, and mental retardation|Wiedemann Oldigs Oppermann syndrome|hirsutism skeletal dysplasia mental retardation syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann-Oldigs-Oppermann syndrome UMLS:C0795976|Orphanet:2156|OMIM:142625|ICD10:Q87.8|GARD:0005566|MESH:C536705 owl:Class MONDO:0016263 biolink:NamedThing primitive neuroectodermal tumor of the corpus uteri A primitive neuroectodermal tumor that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl malignant peripheral neuroectodermal tumor of the corpus uteri|peripheral neuroectodermal cancer of the corpus uteri|primitive neuroectodermal tumor of body of uterus|body of uterus primitive neuroectodermal tumor ICD10:C54.1|ICD10:C54.3|ICD10:C54.8|Orphanet:213630|ICD10:C54.2|ICD10:C54.0|UMLS:CN201052 owl:Class MONDO:0013540 biolink:NamedThing deafness-lymphedema-leukemia syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. tmpak2llvmy_mondo_relaxed.owl deafness-lymphedema-leukemia syndrome|Emberger syndrome|lymphedema, primary, with myelodysplasia Orphanet:3226|GARD:0013030|ICD10:D46.7|SCTID:700057001|ICD9:757.0|OMIM:614038|UMLS:C3279664 https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome owl:Class MONDO:0043218 biolink:NamedThing neurovascular disease A disorder of the nervous system related to a vascular etiology. tmpak2llvmy_mondo_relaxed.owl vasculature nervous system disorder|disease of nervous system vasculature|nervous system disorder of vasculature|neurovascular disorder UMLS:C3898144|NCIT:C117007 owl:Class MONDO:0009155 biolink:NamedThing EEM syndrome EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). tmpak2llvmy_mondo_relaxed.owl EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome|EEMS|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy MESH:C536190|Orphanet:1897|DOID:0111649|OMIM:225280|ICD10:Q87.8|SCTID:720856002|GARD:0002078 https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome owl:Class HGNC:7103 biolink:NamedThing MIP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010680 biolink:NamedThing X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl EMERY-Dreifuss muscular dystrophy 1, X-linked|scapuloperoneal syndrome, X-linked|X-linked Emery-Dreifuss muscular dystrophy|Emerinopathy|scapuloperoneal syndrome, X-linked, formerly|EMD1|humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy 1, X-linked|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|Humeroperoneal neuromuscular disease, formerly|Humeroperoneal neuromuscular disease|EDMD1|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|Emery-Dreifuss muscular dystrophy, X-linked DOID:0070246|UMLS:C0751337|NCIT:C168730|ICD10:G71.0|UMLS:CN069573|Orphanet:98863|OMIM:310300|GARD:0002102 owl:Class MONDO:0021106 biolink:NamedThing laminopathy A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. tmpak2llvmy_mondo_relaxed.owl Orphanet:98301|UMLS:CN236383 owl:Class MONDO:0060496 biolink:NamedThing neurodevelopmental disorder with hypotonia, neuropathy, and deafness tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, neuropathy, and deafness|NEDHND|myopathy, Congenital, with neuropathy and Deafness OMIM:617519|UMLS:C4479603 owl:Class MONDO:0700092 biolink:NamedThing neurodevelopmental disorder A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. tmpak2llvmy_mondo_relaxed.owl MedDRA:C1535926|NCIT:C1535926|MESH:D065886|UMLS:C1535926|SCTID:700364009 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3410 owl:Class MONDO:0005792 biolink:NamedThing herpes simplex virus gingivostomatitis Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. tmpak2llvmy_mondo_relaxed.owl Gingivostomatitis, herpetic|herpetic Gingivostomatitides|herpetic stomatitis|Simplexvirus caused stomatitis|Simplexvirus stomatitis|Herpes simplex, oral|simplex, oral Herpes|Stomatitides, herpetic|herpetic Stomatitides|herpetic Gingivostomatitis|Gingivostomatitides, herpetic|oral Herpes simplex MESH:D013283|EFO:0007307|SCTID:57920007 owl:Class MONDO:0004842 biolink:NamedThing stomatitis Inflammation of the oral mucosa due to local or systemic factors. tmpak2llvmy_mondo_relaxed.owl mouth mucosa inflammation|inflammation of mouth mucosa|mucositis oral|oral mucositis MESH:D013280|SCTID:61170000|ICD10:K12.1|ICD9:528.00|EFO:1001904|ICD9:528.0|UMLS:C0038362|UMLS:C1568868|NCIT:C26887|DOID:9637 owl:Class NCBITaxon:77643 biolink:NamedThing Mycobacterium tuberculosis complex tmpak2llvmy_mondo_relaxed.owl Mycobacterium complex PMID:29205127|PMID:15243089|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1763 biolink:NamedThing Mycobacterium tmpak2llvmy_mondo_relaxed.owl PMID:29497402|PMID:1380284|GC_ID:11|PMID:7547304|PMID:1883713|PMID:1581193|PMID:31296783|PMID:8863452|PMID:2275850|PMID:7907223|PMID:7547284|PMID:16014496 ncbi_taxonomy owl:Class UBERON:5002544 biolink:NamedThing digit plus metapodial segment A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl digit ray|digit ( phalanges plus metapodial) plus soft tissue|digit digitopodial subdivision|digit owl:Class MONDO:0003196 biolink:NamedThing appendix carcinoma A carcinoma that arises from epithelial cells of the vermiform appendix tmpak2llvmy_mondo_relaxed.owl Ca appendix|appendix cancer|appendix carcinoma|carcinoma of the appendix|carcinoma of appendix|vermiform appendix carcinoma|carcinoma of vermiform appendix UMLS:C0728951|NCIT:C9330|SCTID:448992002|DOID:4902 owl:Class MONDO:0006029 biolink:NamedThing cecum carcinoma A carcinoma that arises from epithelial cells of the caecum tmpak2llvmy_mondo_relaxed.owl cecal cancer|carcinoma of the cecum|carcinoma of cecum|cecum cancer|carcinoma of caecum|caecum carcinoma|cecum carcinoma UMLS:C0149640|DOID:1519|SCTID:255081007|NCIT:C3491|EFO:1000021 owl:Class MONDO:0002000 biolink:NamedThing anaerobic meningitis tmpak2llvmy_mondo_relaxed.owl meningitis caused by anaerobic bacteria|meningitis due to anaerobic bacteria ICD9:320.81|SCTID:445059005|DOID:14559|UMLS:C0854214 owl:Class MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease tmpak2llvmy_mondo_relaxed.owl anaerobic bacterial infection|infection caused by anaerobic bacteria|infection due to anaerobic bacteria UMLS:C0854328|SCTID:423451008|ICD9:041.84 Editor note: DP owl:Class MONDO:0001991 biolink:NamedThing malignant cardiac germ cell tumor A rare malignant germ cell tumor that arises from the pericardium. tmpak2llvmy_mondo_relaxed.owl malignant germ cell tumor of the heart|malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant germ cell neoplasm of the heart|malignant heart germ cell neoplasm|malignant germ cell neoplasm of heart|malignant Cardiac germ cell tumor|malignant heart germ cell tumor NCIT:C5371|DOID:14535|UMLS:C1334566 owl:Class MONDO:0003113 biolink:NamedThing extragonadal germ cell cancer A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpak2llvmy_mondo_relaxed.owl extragonadal germ cell tumor, malignant|tumor of extragonadal germ cell|malignant tumor of extragonadal germ cell|malignant tumor of the extragonadal germ cell|malignant neoplasm of extragonadal germ cell|malignant neoplasm of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell malignant tumor UMLS:C1334581|NCIT:C8881|DOID:4717 owl:Class UBERON:0005015 biolink:NamedThing mucosa of prostatic urethra A mucosa that is part of a prostatic urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl prostatic part of urethra mucosa of organ|prostatic urethral mucosa|prostatic urethra organ mucosa|organ mucosa of prostatic part of urethra|mucosa of prostatic part of urethra|prostatic part of urethra mucous membrane|prostatic part of urethra mucosa|mucosa of organ of prostatic part of urethra|mucous membrane of prostatic part of urethra|prostatic urethra mucosa of organ|prostatic urethra mucous membrane|prostatic urethra mucosa|mucous membrane of prostatic urethra|prostatic part of urethra organ mucosa|organ mucosa of prostatic urethra|mucosa of organ of prostatic urethra|tunica mucosa urethrae prosticae owl:Class GO:0042430 biolink:NamedThing indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpak2llvmy_mondo_relaxed.owl ketole metabolic process|indole and derivative metabolism|indole derivative metabolic process|indole and derivative metabolic process|ketole metabolism|indole derivative metabolism|indole-containing compound metabolism owl:Class GO:0046483 biolink:NamedThing heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpak2llvmy_mondo_relaxed.owl heterocycle metabolism owl:Class MONDO:0021043 biolink:NamedThing mixed neoplasm A neoplasm composed of at least two distinct cellular populations. tmpak2llvmy_mondo_relaxed.owl mixed neoplasm|mixed tumor ICDO:8940/1|MESH:D018193|NCIT:C6930 owl:Class UBERON:0004874 biolink:NamedThing somatopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. tmpak2llvmy_mondo_relaxed.owl Central nervous system infection MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684 peter 2012-03-18T05:57:29Z human_phenotype owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. tmpak2llvmy_mondo_relaxed.owl Morphological abnormality of the central nervous system|Central nervous system disease|Morphological abnormality of the CNS|Abnormality of the central nervous system UMLS:C4021765|SNOMEDCT_US:23853001|MSH:D002493|UMLS:C0007682 HP:0007319|HP:0002481|HP:0002405|HP:0002413 human_phenotype owl:Class MONDO:0010819 biolink:NamedThing Stargardt disease 3 tmpak2llvmy_mondo_relaxed.owl Stargardt disease type 3|STGD3|macular dystrophy with flecks, type 3|Stargardt-like macular dystrophy, autosomal dominant|Stargardt disease 3 OMIM:600110|UMLS:C1838644|MESH:C535805 owl:Class MONDO:0019353 biolink:NamedThing Stargardt disease Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. tmpak2llvmy_mondo_relaxed.owl juvenile onset macular degeneration|Stargardt 1|Stargardt macular dystrophy|fundus flavimaculatus|Stargardt disease 1 NCIT:C85078|SCTID:47673003|Orphanet:827|UMLS:C1855465|UMLS:C0271093|ICD10:H35.5|DOID:0050817|MedDRA:10062766|GARD:0000181 https://rarediseases.info.nih.gov/diseases/181/stargardt-disease owl:Class MONDO:0002469 biolink:NamedThing lacrimal gland carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl mixed lacrimal gland cancer|lacrimal gland malignant mixed tumor|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland malignant mixed neoplasm|malignant mixed tumor of lacrimal gland|carcinoma ex pleomorphic adenoma of lacrimal gland|malignant mixed neoplasm of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|malignant mixed tumor of the lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland SCTID:254989000|UMLS:C0346342|NCIT:C6804|DOID:296 MONDO:0021278 owl:Class MONDO:0002463 biolink:NamedThing lacrimal gland carcinoma A carcinoma that arises from epithelial cells of the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of lacrimal gland|carcinoma of the lacrimal gland|lacrimal gland carcinoma DOID:293|NCIT:C6129|UMLS:C1334358 owl:Class CHEBI:33232 biolink:NamedThing application Intended use of the molecular entity or part thereof by humans. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50906 biolink:NamedThing role A role is particular behaviour which a material entity may exhibit. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005664 biolink:NamedThing bartonellosis An infectious disease produced by bacteria of the genus Bartonella. tmpak2llvmy_mondo_relaxed.owl bartonelliasis|Bartonella disease or disorder|Bartonella caused disease or disorder|Rochalimaea infection|Bartonella infectious disease|Rochalimaea infections|Rochalimaea infection (disorder)|Bartonella infection NCIT:C84586|ICD10:A44.9|EFO:0007166|DOID:11102|ICD10:A44|UMLS:C0004771|SCTID:266123003|MESH:D001474|ICD9:088.0 owl:Class MONDO:0006924 biolink:NamedThing Bartonellaceae infectious disease Infections with bacteria of the family bartonellaceae. tmpak2llvmy_mondo_relaxed.owl Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae infection|Bartonellaceae caused disease or disorder|infection, Bartonellaceae MESH:D001476|EFO:1001125|UMLS:C0004773 owl:Class MONDO:0011922 biolink:NamedThing nonimmune chronic idiopathic neutropenia of adults tmpak2llvmy_mondo_relaxed.owl nonimmune chronic idiopathic neutropenia of adults|NI-CINA|neutropenia, nonimmune chronic idiopathic, of adults|adult idiopathic neutropenia OMIM:607847|MESH:C564320|ICD10:D70|UMLS:C1842930|Orphanet:2688 owl:Class UBERON:0010586 biolink:NamedThing manual digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit mesenchyme. tmpak2llvmy_mondo_relaxed.owl fore limb digit phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation|forelimb phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation owl:Class UBERON:0015024 biolink:NamedThing manual digit phalanx endochondral element A manual digit phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit phalanx element|manual digit phalanx skeletal element owl:Class UBERON:0003075 biolink:NamedThing neural plate A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA] tmpak2llvmy_mondo_relaxed.owl presumptive central nervous system|lamina neuralis owl:Class GO:0042158 biolink:NamedThing lipoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl lipoprotein anabolism|lipoprotein formation|lipoprotein synthesis|lipoprotein biosynthesis owl:Class GO:1901566 biolink:NamedThing organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. tmpak2llvmy_mondo_relaxed.owl organonitrogen compound formation|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound anabolism owl:Class MONDO:0054833 biolink:NamedThing charcot-marie-tooth disease, axonal, type 2DD tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-tooth disease, axonal, type 2DD|Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD OMIM:618036|DOID:0111558|Orphanet:521414|UMLS:CN248781 owl:Class GO:0022601 biolink:NamedThing menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044848 biolink:NamedThing biological phase A distinct period or stage in a biological process or cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0072201 biolink:NamedThing negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010464 biolink:NamedThing regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001073 biolink:NamedThing idiopathic progressive polyneuropathy tmpak2llvmy_mondo_relaxed.owl DOID:10593|UMLS:C0154756|SCTID:33209009|ICD9:356.4 owl:Class MONDO:0006094 biolink:NamedThing Askin tumor A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. tmpak2llvmy_mondo_relaxed.owl Askin's tumor|PNET of thoracopulmonary region|small cell tumor of thoracopulmonary region|peripheral neuroectodermal tumor of thoracopulmonary region|Askin tumor EFO:1000095|DOID:0050608|ICDO:9365/3|UMLS:C0877849|NCIT:C7542 Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling owl:Class MONDO:0018271 biolink:NamedThing peripheral primitive neuroectodermal tumor A small round cell tumor with neural differentiation arising from the soft tissues or bone. tmpak2llvmy_mondo_relaxed.owl peripheral PNET|pPNET|peripheral primitive neuroectodermal tumor|PPNET|peripheral neuroectodermal tumor|peripheral primitive neuroectodermal neoplasm|peripheral neuroepithelioma|peripheral neuroectodermal neoplasm 2022-02-01 UMLS:C3489398|ICD10:C71.9|Orphanet:370348|ICDO:9364/3|NCIT:C9341|UMLS:C0684337 This will be obsoleted in the 2022-02-01 release. The term will be split and the new ID for this term will be MONDO:800020. https://github.com/monarch-initiative/mondo/issues/4039 owl:Class HsapDv:0000121 biolink:NamedThing 27-year-old human stage Adult stage that refers to an adult who is over 27 and under 28. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003276 biolink:NamedThing middle ear disease A disease involving the middle ear. tmpak2llvmy_mondo_relaxed.owl middle ear disease|disorder of middle ear|middle ear disease or disorder|disease or disorder of middle ear|middle Ear disorder|disease of middle ear SCTID:68996008|UMLS:C0271428|NCIT:C27065|DOID:5100 owl:Class MONDO:0021205 biolink:NamedThing disease of ear A disease that involves the ear. tmpak2llvmy_mondo_relaxed.owl ear disease|Ear disorder|Ear disease|disorder of ear|disease or disorder of ear|ear disease or disorder|disease of ear SCTID:25906001|ICD9:388.9|UMLS:C0013447|NCIT:C26757|ICD9:388.8 owl:Class MONDO:0032852 biolink:NamedThing myopathy, congenital, with structured cores and z-line abnormalities tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES|MYOCOZ|Multiple Structured Core Disease OMIM:618654 owl:Class MONDO:0024540 biolink:NamedThing Jervell and Lange-Nielsen syndrome 1 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpak2llvmy_mondo_relaxed.owl deafness, congenital, and functional heart disease|Surdo-Cardiac syndrome|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielsen syndrome 1|prolonged QT interval in Ekg and sudden death|KCNQ1 Jervell and Lange-Nielsen syndrome OMIM:220400|UMLS:CN034131 owl:Class MONDO:0002441 biolink:NamedThing Jervell and Lange-Nielsen syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. tmpak2llvmy_mondo_relaxed.owl Jervell and Lange Nielsen syndrome|prolonged QT interval in EKG and sudden death|Jervell-Lange Nielsen syndrome|deafness, congenital, and functional heart disease|Jervell and Lange-Nielsen syndrome type 1|Jervell Lange-Nielsen syndrome|Surdo-cardiac syndrome|long QT interval-deafness syndrome|Jervell and Lange-Nielsen syndrome 1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielson syndrome SCTID:373905003|Orphanet:90647|MESH:D029593|UMLS:C0022387|NCIT:C84793|MedDRA:10057936|ICD10:I45.8|DOID:2842|GARD:0003048|OMIMPS:220400 https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome owl:Class UBERON:0001770 biolink:NamedThing lacrimal canaliculus The part of the lacrimal duct that connects the lacrimal punctum to the lacrimal sac. tmpak2llvmy_mondo_relaxed.owl canaliculus lacrimalis owl:Class GO:0032782 biolink:NamedThing bile acid secretion The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046717 biolink:NamedThing acid secretion The controlled release of acid by a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050728 biolink:NamedThing negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. tmpak2llvmy_mondo_relaxed.owl downregulation of inflammatory response|down regulation of inflammatory response|down-regulation of inflammatory response|anti-inflammatory response|inhibition of inflammatory response owl:Class GO:0032102 biolink:NamedThing negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of response to external stimulus|down-regulation of response to external stimulus|down regulation of response to external stimulus|downregulation of response to external stimulus owl:Class GO:0035176 biolink:NamedThing social behavior Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. tmpak2llvmy_mondo_relaxed.owl cooperative behavior|social behaviour owl:Class MONDO:0021086 biolink:NamedThing gingival neoplasm A benign or malignant neoplasm that affects the upper or lower gingiva. tmpak2llvmy_mondo_relaxed.owl neoplasm of the gingiva|gingiva neoplasm|tumor of the gingiva|gingival neoplasm|tumor of gingiva|gingival tumor|gum neoplasm|gum tumor|gingiva tumor|neoplasm of gingiva|tumor of the gum|tumor of gum|neoplasm of gum|neoplasm of the gum|gingiva neoplasm (disease) SCTID:126792007|UMLS:C0017570|NCIT:C3057 owl:Class MONDO:0021192 biolink:NamedThing odontogenic neoplasm A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. tmpak2llvmy_mondo_relaxed.owl neoplasm of calcareous tooth|calcareous tooth neoplasm (disease)|calcareous tooth neoplasm|calcareous tooth tumor|tumor of calcareous tooth|odontogenic tumor|odontogenic neoplasm UMLS:C0028880|MESH:D009808|ICDO:9270/1|NCIT:C3286 owl:Class MONDO:0007434 biolink:NamedThing primary failure of tooth eruption tmpak2llvmy_mondo_relaxed.owl primary failure of eruption, nonsyndromic|unerupted second primary molar|dental noneruption|PFE|failure of tooth eruption, primary|posterior Openbite malocclusion, familial|primary retention of teeth DOID:0111341|MESH:C565114|UMLS:C1852222|OMIM:125350|Orphanet:412206|ICD10:K00.8 owl:Class MONDO:0011801 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|autosomal recessive spinocerebellar ataxia with axonal neuropathy|SCAN1|spinocerebellar ataxia type 1 with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy type 1|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy GARD:0010000|ICD10:G60.2|DOID:0090115|MESH:C537313|SCTID:765091006|GARD:10000|Orphanet:94124|UMLS:C1846574|OMIM:607250 owl:Class MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl genetic peripheral neuropathy Orphanet:98497 owl:Class CHEBI:32760 biolink:NamedThing L-tyrosinate(1-) An optically active form of tyrosinate having L-configuration. tmpak2llvmy_mondo_relaxed.owl L-tyrosine anion|L-tyrosine monoanion|L-tyrosinate(1-)|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen L-tyrosinate owl:Class CHEBI:59814 biolink:NamedThing L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpak2llvmy_mondo_relaxed.owl L-alpha-amino carboxylate owl:Class MONDO:0001538 biolink:NamedThing retinal ischemia A ischemic disease that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina ischemic disease|ischemic disease of retina ICD10:H35.82|DOID:12510|SCTID:26468004|UMLS:C0162291|ICD9:362.84 owl:Class MONDO:0005283 biolink:NamedThing retinal disease Any disease or disorder of the retina. tmpak2llvmy_mondo_relaxed.owl retina eye disease|eye disease of retina|retinopathy SCTID:29555009|EFO:0003839|UMLS:C0035309|MESH:D012164|HGNC:8002|ICD9:362.9|ICD10:H35.9|DOID:5679|ICD9:362.89|NCIT:C62601 owl:Class UBERON:0001463 biolink:NamedThing manual digit 1 1st (preaxial) digit of the manus[Wikipedia]. tmpak2llvmy_mondo_relaxed.owl hand digit 1|digit 1 of manus|digitus 1|digitus primus|fore digit I|manual digit 1|forelimb dewclaw|digitus primus [I]|thumb|finger 1|manual digit I|pollex|alula|digit 1 of fore-paw|fore limb digit 1|first digit of hand|digitus I|first finger owl:Class UBERON:0019231 biolink:NamedThing manual digit 1 or 5 tmpak2llvmy_mondo_relaxed.owl lateral manual digit|outer manual digit|outermost manual digit|lateral finger owl:Class MONDO:0021764 biolink:NamedThing acrofacial dysostosis preis type Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl GARD:0000495 https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type owl:Class MONDO:0018237 biolink:NamedThing acrofacial dysostosis tmpak2llvmy_mondo_relaxed.owl Orphanet:364574|DOID:0060379|UMLS:C1332140|NCIT:C35795 owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormality of divalent inorganic cation homeostasis UMLS:C4023648 peter 2011-01-06T07:47:18Z human_phenotype owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormality of cation homeostasis UMLS:C4023646 peter 2011-01-06T10:36:04Z human_phenotype owl:Class GO:0043066 biolink:NamedThing negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. tmpak2llvmy_mondo_relaxed.owl down-regulation of apoptosis|downregulation of apoptosis|pro-survival|negative regulation of apoptosis|apoptosis inhibitor activity|anti-apoptosis|inhibition of apoptosis|down regulation of apoptosis owl:Class GO:0042981 biolink:NamedThing regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. tmpak2llvmy_mondo_relaxed.owl apoptosis regulator activity|regulation of apoptosis owl:Class CL:0000083 biolink:NamedThing epithelial cell of pancreas An epithelial cell of the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas epithelial cell|pancreatic epithelial cell BTO:0000028 cell owl:Class MONDO:0011300 biolink:NamedThing myopia 3, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP3|myopia 3, autosomal dominant MESH:C566397|UMLS:C1864111|OMIM:603221 owl:Class MONDO:0001384 biolink:NamedThing myopia The condition in which the individual does not see far distances clearly. tmpak2llvmy_mondo_relaxed.owl myopia (disease)|near-sightedness|short-sightedness|near vision|myopia myopia (disease) EFO:0003927|MESH:D009216|SCTID:57190000|OMIMPS:160700|ICD9:367.1|UMLS:C0027092|HP:0000545|DOID:11830|ICD10:H52.1 owl:Class HP:0002717 biolink:NamedThing Adrenal overactivity tmpak2llvmy_mondo_relaxed.owl UMLS:C4025685 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. peter 2008-02-25T10:41:00Z human_phenotype owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023212 peter 2012-04-21T08:05:42Z HP:0002855 human_phenotype owl:Class UBERON:0022287 biolink:NamedThing tear film An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet. tmpak2llvmy_mondo_relaxed.owl precorneal film owl:Class UBERON:0006314 biolink:NamedThing bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. tmpak2llvmy_mondo_relaxed.owl fluid|body fluid owl:Class MONDO:0013051 biolink:NamedThing autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. tmpak2llvmy_mondo_relaxed.owl PYCR1 autosomal recessive cutis laxa type 2|cutis laxa, autosomal recessive type 2B|cutis laxa, autosomal recessive, type 2B|autosomal recessive cutis laxa type IIB|cutis laxa with progeroid features|ARCL2B|autosomal recessive cutis laxa type 2B|autosomal recessive cutis laxa type 2, progeroid type|ARCL2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|cutis laxa, autosomal recessive, type IIB MESH:C567855|GARD:0001641|ICD10:Q82.8|UMLS:C2751987|ICD10CM:Q82.8|Orphanet:357064|DOID:0070137|OMIM:612940 https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b owl:Class MONDO:0019573 biolink:NamedThing autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). tmpak2llvmy_mondo_relaxed.owl ARCL2|cutis laxa with joint laxity and developmental delay ICD10:Q82.8|Orphanet:90350 owl:Class UBERON:0013697 biolink:NamedThing exocrine pancreas epithelium Epithelium lining the exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl epithelium of exocrine pancreas|exocrine pancreas epithelial cell owl:Class MONDO:0002359 biolink:NamedThing periosteal chondroma A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. tmpak2llvmy_mondo_relaxed.owl juxtacortical chondroma|juxtacortical chondroma (morphologic abnormality)|periosteal chondroma NCIT:C4302|ICDO:9221/0|DOID:2601|UMLS:C0334548 owl:Class MONDO:0002360 biolink:NamedThing chondroma A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. tmpak2llvmy_mondo_relaxed.owl chondroma|central chondroma|chondroma, benign ICDO:9220/0|DOID:2602|MESH:D002812|NCIT:C53459|UMLS:C0936248|GARD:0006052 https://rarediseases.info.nih.gov/diseases/6052/chondroma owl:Class MONDO:0018571 biolink:NamedThing contractures-developmental delay-Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl 5q23 microdeletion syndrome ICD10:Q87.0|Orphanet:436003|UMLS:CN237584 owl:Class MONDO:0018187 biolink:NamedThing genetic syndromic Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204685|Orphanet:363294 owl:Class CHEBI:26739 biolink:NamedThing sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. tmpak2llvmy_mondo_relaxed.owl sphingolipids owl:Class CHEBI:18059 biolink:NamedThing lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. tmpak2llvmy_mondo_relaxed.owl lipids|Lipid owl:Class MONDO:0005284 biolink:NamedThing chronic progressive multiple sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpak2llvmy_mondo_relaxed.owl MESH:D020528|EFO:0003840|UMLS:C0393665|SCTID:230373008 owl:Class MONDO:0005301 biolink:NamedThing multiple sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. tmpak2llvmy_mondo_relaxed.owl insular sclerosis|generalized multiple sclerosis MESH:D009103|UMLS:C0026769|EFO:0003885|DOID:2377|ICD10:G35|NCIT:C3243|SCTID:24700007|ICD9:340 owl:Class UBERON:5003635 biolink:NamedThing pedal digit 5 plus metapodial segment A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl pedal digit V plus metapodial segment|pedal digit 5|pedal digit 5 ray|pedal digit 5 ( phalanges plus metapodial) plus soft tissue|pedal digit 5 digitopodial subdivision owl:Class UBERON:5006052 biolink:NamedThing digit 5 plus metapodial segment A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl digit 5 ( phalanges plus metapodial) plus soft tissue|digit V plus metapodial segment|digit 5|digit 5 digitopodial subdivision|digit 5 ray owl:Class SO:0000655 biolink:NamedThing ncRNA An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. tmpak2llvmy_mondo_relaxed.owl noncoding RNA|INSDC_qualifier:other|known_ncrna owl:Class SO:0000233 biolink:NamedThing mature_transcript A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified. tmpak2llvmy_mondo_relaxed.owl mature transcript owl:Class MONDO:0017269 biolink:NamedThing X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. tmpak2llvmy_mondo_relaxed.owl inherited ichthyosis syndromic form, X-linked|X-linked inherited ichthyosis syndromic form MedDRA:10048063|Orphanet:281210 Editor note: check relationship to syndromic recessive X-linked ichthyosis owl:Class MONDO:0001873 biolink:NamedThing geniculate ganglionitis Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. tmpak2llvmy_mondo_relaxed.owl geniculate ganglionitis|geniculate ganglion inflammation|inflammation of geniculate ganglion ICD10:G51.1|UMLS:C0017407|SCTID:72839009|DOID:14075|ICD9:351.1 owl:Class MONDO:0021260 biolink:NamedThing sensory ganglionopathy A disease or disorder that involves the sensory ganglion. tmpak2llvmy_mondo_relaxed.owl disease or disorder of sensory ganglion|disorder of sensory ganglion|sensory ganglion disease|disease of sensory ganglion|sensory ganglion disease or disorder owl:Class MONDO:0008097 biolink:NamedThing linear nevus sebaceus syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). tmpak2llvmy_mondo_relaxed.owl epidermal nevus syndrome|Nevus sebaceus of Jadassohn|Epidermal Nevus syndrome, formerly|Nevus sebaceous of Jadassohn|linear nevus sebaceous syndrome|sebaceous nevus syndrome linear|Jadassohn Nevus phakomatosis|SFM syndrome|Nevus sebaceus syndrome|organoid nevus syndrome|organoid Nevus|Solomon syndrome|Schimmelpenning Feuerstein Mims syndrome|Sfm syndrome|organoid nevus phakomatosis|SFM|linear sebaceous Nevus syndrome|organoid Nevus phakomatosis|Schimmelpenning syndrome|sebaceous Nevus syndrome, linear|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|JNP|linear sebaceous Nevus|Jadassohn nevus phakomatosis ICD10:Q85.8|OMIM:163200|NCIT:C4678|GARD:0010291|Orphanet:2612|DOID:0111530 https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome owl:Class MONDO:0015950 biolink:NamedThing inherited skin tumor tmpak2llvmy_mondo_relaxed.owl genetic skin tumor Orphanet:183487|UMLS:CN200547 owl:Class MONDO:0100362 biolink:NamedThing lip herpes simplex type 2 infectious disease Any herpes simplex type 2 infectious disease that involves the lip. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0100360 biolink:NamedThing herpes simplex type 2 infectious disease A disease caused by infection with herpes simplex type 2. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class CHEBI:30411 biolink:NamedThing cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. tmpak2llvmy_mondo_relaxed.owl COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|cobalamin owl:Class CHEBI:23334 biolink:NamedThing cobalamins tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011402 biolink:NamedThing congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. tmpak2llvmy_mondo_relaxed.owl cataract, congenital, with Facial Dysmorphism and neuropathy|CCFDN|congenital cataracts-facial dysmorphism-neuropathy syndrome|congenital cataracts, facial dysmorphism, and neuropathy ICD9:759.89|MESH:C565822|ICD10:Q87.8|UMLS:C1858726|OMIM:604168|SCTID:702433001|Orphanet:48431 owl:Class MONDO:0020229 biolink:NamedThing cerebral disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN207057|Orphanet:98645 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: nervous system disorder' MONDO_0005071 owl:Class CHEBI:33543 biolink:NamedThing sulfonate The sulfur oxoanion formed by deprotonation of sulfonic acid. tmpak2llvmy_mondo_relaxed.owl [SHO3](-)|SHO3(-)|sulfonates|hydridotrioxidosulfate(1-) owl:Class CHEBI:33482 biolink:NamedThing sulfur oxoanion tmpak2llvmy_mondo_relaxed.owl sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur owl:Class MONDO:0024350 biolink:NamedThing pityriasis steatoides tmpak2llvmy_mondo_relaxed.owl pityriasis steatoides SCTID:403426003|ICD9:696.5|UMLS:C1274781 owl:Class MONDO:0006547 biolink:NamedThing exanthem Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. tmpak2llvmy_mondo_relaxed.owl exanthem|exanthem (disease)|skin Rash|Rash|skin eruption|cutaneous eruption|exanthema exanthem (disease) NCIT:C39594|ICD9:782.1|Wikipedia:Exanthem|HP:0000988|EFO:1000697|DOID:0050486|MESH:D005076|ICD10:R21|SCTID:271807003 owl:Class MONDO:0003646 biolink:NamedThing rectum neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl rectal NET|neuroendocrine tumor of rectum|rectal neuroendocrine neoplasm|NET of the rectum|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor|neuroendocrine neoplasm of the rectum|rectum NET|neuroendocrine neoplasm of rectum|rectum neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100081|DOID:5777|UMLS:C1335686|NCIT:C5698 owl:Class MONDO:0002883 biolink:NamedThing intestinal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl intestinal neuroendocrine benign tumor|neuroendocrine tumor of intestine|neuroendocrine neoplasm of the intestine|intestine neuroendocrine neoplasm|neuroendocrine neoplasm of intestine|intestine NET|intestinal neuroendocrine neoplasm|intestine neuroendocrine tumor|intestine neuroendocrine tumor, well differentiated, low or intermediate grade DOID:4119|UMLS:C1334231|NCIT:C5695 owl:Class HGNC:11185 biolink:NamedThing SORL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021533 biolink:NamedThing intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl intestine neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of intestine|intestine carcinoid tumor|intestinal neuroendocrine tumor G1|intestinal NET G1|carcinoid tumor of the intestine|intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of intestine|intestine NET G1|intestinal carcinoid tumor|intestine neuroendocrine neoplasm G1 SCTID:276816003|NCIT:C4637 owl:Class MONDO:0006420 biolink:NamedThing small intestinal mucosa-associated lymphoid tissue lymphoma A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. tmpak2llvmy_mondo_relaxed.owl MALT lymphoma of the small intestine|MALT lymphoma of small intestine|small intestine mucosa-associated lymphoid tissue lymphoma|MALToma of the small bowel|small bowel MALToma|small intestine MALToma|MALT lymphoma of the small bowel|small intestine MALT lymphoma|MALToma of small intestine|small bowel MALT lymphoma|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small bowel|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small intestine|small intestinal mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALToma of the small intestine|MALToma of small bowel|mucosa-associated lymphoid tissue lymphoma of small bowel UMLS:C1336004|NCIT:C5635|EFO:1000537 owl:Class MONDO:0017128 biolink:NamedThing inherited digestive tract tumor tmpak2llvmy_mondo_relaxed.owl genetic digestive tract tumor Orphanet:271835|UMLS:CN202527 owl:Class GO:0090276 biolink:NamedThing regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046883 biolink:NamedThing regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000296 biolink:NamedThing epithelial cell of urethra An epithelial cell that is part of the urethra. tmpak2llvmy_mondo_relaxed.owl FMA:256165 cell owl:Class MONDO:0007490 biolink:NamedThing carpotarsal osteochondromatosis Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. tmpak2llvmy_mondo_relaxed.owl dominant carpotarsal osteochondromatosis|osteochondromatosis, dominant carpotarsal|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux Le Merrer Bensahel syndrome|Maroteaux-Le Merrer-Bensahel syndrome ICD10:D16.9|MESH:C565076|UMLS:C1300233|OMIM:127820|SCTID:389272007|Orphanet:2767|GARD:0001128 https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis owl:Class MONDO:0018230 biolink:NamedThing primary bone dysplasia tmpak2llvmy_mondo_relaxed.owl primary skeletal dysplasia|primary osteodysplasia Orphanet:364526 Editor note: ORDO has these as genetic, but some forms may not be genetic - check this owl:Class CHEBI:50996 biolink:NamedThing tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. tmpak2llvmy_mondo_relaxed.owl tertiary amino compounds owl:Class CHEBI:50047 biolink:NamedThing organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpak2llvmy_mondo_relaxed.owl organic amino compounds owl:Class MONDO:0033533 biolink:NamedThing combined oxidative phosphorylation deficiency 45 tmpak2llvmy_mondo_relaxed.owl COXPD45|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 OMIM:618951 owl:Class MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. tmpak2llvmy_mondo_relaxed.owl GARD:0012893|OMIMPS:609060|DOID:0060286 https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency owl:Class UBERON:0003662 biolink:NamedThing forelimb muscle Any muscle organ that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl muscle of upper limb|fore limb muscle organ|wing muscle|arm muscle system|musculature of arm|upper limb skeletal muscle|muscle of free upper limb|musculature of the arm|free upper limb muscle|forelimb muscle organ owl:Class UBERON:0014794 biolink:NamedThing pectoral appendage muscle Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003039 biolink:NamedThing nominal aphasia Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. tmpak2llvmy_mondo_relaxed.owl anomic aphasia (finding)|anomic aphasia|anomia MESH:D000849|DOID:4541 owl:Class MONDO:0000598 biolink:NamedThing aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. tmpak2llvmy_mondo_relaxed.owl DOID:0060046|ICD10:R47.01 owl:Class MONDO:0015059 biolink:NamedThing progressive non-fluent aphasia Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. tmpak2llvmy_mondo_relaxed.owl non-fluent primary progressive aphasia|Agramatic variant of primary progressive aphasia|Agramatic variant of PPA|Primary Progressive Nonfluent aphasia|non-fluent variant PPA SCTID:716281000|ICD10:G31.0|GARD:0010793|MESH:D057178|Orphanet:100070|MedDRA:10029542|NCIT:C85025 https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia owl:Class MONDO:0017643 biolink:NamedThing frontotemporal neurodegeneration with movement disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227167|Orphanet:306708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class ECTO:9001975 biolink:NamedThing exposure to antimicrobial food preservative An exposure to antimicrobial food preservative. tmpak2llvmy_mondo_relaxed.owl exposure to antimicrobial food preservative owl:Class ECTO:9002130 biolink:NamedThing exposure to food preservative An exposure to food preservative. tmpak2llvmy_mondo_relaxed.owl exposure to food preservative owl:Class MONDO:0010788 biolink:NamedThing Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. tmpak2llvmy_mondo_relaxed.owl Leber Hereditary optic atrophy|Leber optic atrophy|Leber's optic atrophy|Leber’s disease|Leber's hereditary optic neuropathy|LHON|optic atrophy, Leber type|Leber hereditary optic neuropathy NCIT:C84808|SCTID:58610003|ICD10:H47.2|DOID:705|OMIM:535000|UMLS:C0917796|Orphanet:104|ICD10:H47.22|MESH:D029242|GARD:0006870 owl:Class MONDO:0043878 biolink:NamedThing hereditary optic atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. tmpak2llvmy_mondo_relaxed.owl hereditary optic Atrophies|hereditary optic atrophy|atrophy, hereditary optic|Atrophies, hereditary optic|optic atrophy, hereditary UMLS:C0029125|OMIMPS:165500|NCIT:C34864|MESH:D015418|SCTID:26360005 owl:Class MONDO:0014720 biolink:NamedThing autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. tmpak2llvmy_mondo_relaxed.owl dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|Treft-Sanborn-Carey syndrome|optic atrophy type 8|optic atrophy - deafness- polyneuropathy - myopathy|optic atrophy-deafness-polyneuropathy-myopathy syndrome|DOA+ GARD:0005243|DOID:0111340|ICD10:H47.2|UMLS:C1852267|UMLS:C4275164|SCTID:715374003|Orphanet:1215 owl:Class MONDO:0020250 biolink:NamedThing autosomal dominant optic atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. tmpak2llvmy_mondo_relaxed.owl ADOA|optic atrophy, autosomal dominant|dominant optic atrophy|DOA SCTID:2065009|MESH:D029241|UMLS:C0338508|ICD10:H47.2|NCIT:C84577|GARD:0011972|Orphanet:98672 owl:Class GO:0001956 biolink:NamedThing positive regulation of neurotransmitter secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl activation of neurotransmitter secretion|up regulation of neurotransmitter secretion|upregulation of neurotransmitter secretion|stimulation of neurotransmitter secretion|up-regulation of neurotransmitter secretion owl:Class GO:0050806 biolink:NamedThing positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpak2llvmy_mondo_relaxed.owl up regulation of synaptic transmission|up-regulation of synaptic transmission|upregulation of synaptic transmission|stimulation of synaptic transmission|activation of synaptic transmission owl:Class GO:0032838 biolink:NamedThing plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099568 biolink:NamedThing cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031341 biolink:NamedThing regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050794 biolink:NamedThing regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl regulation of cellular physiological process owl:Class MONDO:0100109 biolink:NamedThing Zinner syndrome A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045944 biolink:NamedThing positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl positive regulation of transcription from RNA polymerase II promoter, global|activation of global transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|up-regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from Pol II promoter|up regulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|up-regulation of global transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter owl:Class GO:0006357 biolink:NamedThing regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, global|global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter|regulation of transcription from Pol II promoter owl:Class GO:1902571 biolink:NamedThing regulation of serine-type peptidase activity Any process that modulates the frequency, rate or extent of serine-type peptidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of serine protease activity owl:Class MONDO:0000890 biolink:NamedThing Zika virus congenital syndrome A congenital birth syndrome that arises from materal Zika infection. tmpak2llvmy_mondo_relaxed.owl ZIKV congenital infection|congenital Zika virus infection|congenital Zika syndrome DOID:0080180 owl:Class MONDO:0100120 biolink:NamedThing vector-borne disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. tmpak2llvmy_mondo_relaxed.owl vector-borne infection|vector-borne infectious disease https://orcid.org/0000-0002-2825-0621 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000936 biolink:NamedThing syphilitic meningitis An infectious meningitis caused by infection with Treponema. tmpak2llvmy_mondo_relaxed.owl Treponema caused infectious meningitis|Treponema infectious meningitis|meningeal syphilis|meningitis, syphilitic|syphilitic aseptic meningitis DOID:10073|GARD:0008731|UMLS:C0153166|MESH:C536775|ICD9:094.2|SCTID:301086002 owl:Class MONDO:0004796 biolink:NamedThing infectious meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. tmpak2llvmy_mondo_relaxed.owl meningitis|infectious meningitis|infective meningitis MESH:D008581|DOID:9471|SCTID:312216007|ICD10:G03|EFO:0000584|ICD9:321.8|NCIT:C79598|HP:0001287|ICD10:G03.9|ICD9:322|ICD9:322.9 owl:Class MONDO:0009562 biolink:NamedThing beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. tmpak2llvmy_mondo_relaxed.owl beta-mannosidosis|Beta-mannosidase deficiency|lysosomal Beta-mannosidase deficiency|beta-mannosidase deficiency|lysosomal beta-mannosidase deficiency|MANSB|mannosidosis, BETA A, lysosomal|Beta-D-mannosidosis OMIM:248510|NCIT:C84596|DOID:3633|ICD9:271.8|ICD10:E77.1|Orphanet:118|SCTID:238047006|MESH:D044905|UMLS:C4048196|GARD:0000869 owl:Class CL:0012000 biolink:NamedThing astrocyte of the forebrain An astrocyte of the forebrain. tmpak2llvmy_mondo_relaxed.owl forebrain astrocyte tberardini cell owl:Class CL:0000127 biolink:NamedThing astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. tmpak2llvmy_mondo_relaxed.owl astrocytic glia FMA:54537|BTO:0000099|CALOHA:TS-0060 Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. cell owl:Class MONDO:0011296 biolink:NamedThing Meckel syndrome, type 2 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome, type 2|Meckel syndrome type 2|Meckel syndrome, type 2|Meckel syndrome 2|TMEM216 Meckel syndrome|MKS2|Meckel syndrome caused by mutation in TMEM216 MESH:C536131|UMLS:C1864148|DOID:0070116|ICD10:Q61.9|GARD:0008743|OMIM:603194 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 owl:Class MONDO:0018921 biolink:NamedThing Meckel syndrome Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome SCTID:29076005|Orphanet:564|UMLS:C0265215|GARD:0003436|DOID:0050778|OMIMPS:249000|ICD10:Q61.9|ICD9:753.10|NCIT:C98978|ICD9:753.1|ICD9:759.89 owl:Class MONDO:0003557 biolink:NamedThing optic nerve sheath meningioma A meningioma that affects the sheath of the optic nerve. tmpak2llvmy_mondo_relaxed.owl optic nerve sheath meningioma|meningioma of the optic nerve sheath|meningioma of optic nerve sheath DOID:5632|NCIT:C4538|ICD9:237.9|UMLS:C0346328|SCTID:254978007 Editor note: TODO axiomatize owl:Class MONDO:0016642 biolink:NamedThing meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl primary meningeal tumor|intracranial meningioma|meningioma (disease)|meningioma|meningothelial cell tumor|supratentorial meningioma|meningeal neoplasm meningioma (disease) HP:0002858|MedDRA:10027191|DOID:3565|ICDO:9530/0|Orphanet:2495|GARD:0007015|NCIT:C3230|ONCOTREE:MNG|UMLS:C0025286|MESH:D008579|ICD10:D32.9|SCTID:302820008 owl:Class UBERON:0014871 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 1 A distal epiphysis that is part of a distal phalanx of pedal digit 1. tmpak2llvmy_mondo_relaxed.owl head of distal phalanx of first digit of foot|distal end of distal phalanx of big toe|ungual tuberosity of distal phalanx of big toe|distal epiphysis of distal phalanx of big toe|head of distal phalanx of big toe|distal epiphysis of distal phalanx of pedal digit I|head of distal phalanx of great toe owl:Class UBERON:0004379 biolink:NamedThing distal epiphysis An epiphysis that is on the distal side of the bone. tmpak2llvmy_mondo_relaxed.owl distal end of long bone owl:Class CHEBI:33860 biolink:NamedThing aromatic amine An amino compound in which the amino group is linked directly to an aromatic system. tmpak2llvmy_mondo_relaxed.owl arylamines|aromatic amines|aryl amines|aryl amine|arylamine owl:Class CHEBI:33659 biolink:NamedThing organic aromatic compound tmpak2llvmy_mondo_relaxed.owl organic aromatic compounds owl:Class MONDO:0045044 biolink:NamedThing ligament disease A disease or disorder that involves the ligament. tmpak2llvmy_mondo_relaxed.owl ligament disease or disorder|disorder of ligament|disease of ligament|disease or disorder of ligament SCTID:60492000|UMLS:C0263976 owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. tmpak2llvmy_mondo_relaxed.owl Abnormality of the tricuspid valve UMLS:C4025753|EPCC:06.01.00 HP:0031440 human_phenotype owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. tmpak2llvmy_mondo_relaxed.owl Abnormality of the atrioventricular valves UMLS:C4024995 peter 2008-03-29T03:34:00Z HP:0006675 human_phenotype owl:Class MONDO:0003890 biolink:NamedThing infiltrating bladder urothelial carcinoma An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. tmpak2llvmy_mondo_relaxed.owl invasive bladder urothelial carcinoma|invasive transitional cell carcinoma of the urinary bladder|infiltrating transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|infiltrating bladder urothelial carcinoma DOID:6477|NCIT:C27885|UMLS:C1334281 owl:Class MONDO:0005611 biolink:NamedThing bladder transitional cell carcinoma The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. tmpak2llvmy_mondo_relaxed.owl urothelial bladder carcinoma|urinary bladder transitional cell carcinoma|urinary bladder urothelial carcinoma|transitional cell carcinoma of bladder|transitional cell carcinoma of the urinary bladder|bladder transitional cell carcinoma|BLCA|urothelial carcinoma of the urinary bladder|bladder urothelial cancer|bladder urothelial carcinoma EFO:0006544|UMLS:C0279680|NCIT:C39851|DOID:4006|ONCOTREE:BLCA|SCTID:255109008 owl:Class MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). tmpak2llvmy_mondo_relaxed.owl dermatofibrosarcoma|dermatofibrosarcoma protuberans|familial dermatofibrosarcoma protuberans (subtype)|metastatic dermatofibrosarcoma protuberans (subtype)|giant cell fibroblastoma|DFSP NCIT:C4683|MedDRA:10057070|DOID:3507|ICDO:8832/3|ONCOTREE:DFSP|MESH:D018223|Orphanet:31112|UMLS:C0392784|GARD:0009569|ICD10:C49.9|SCTID:276799004|OMIM:607907 https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans owl:Class MONDO:0013695 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 6 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. tmpak2llvmy_mondo_relaxed.owl hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6|TGFBR2 hereditary nonpolyposis colon cancer|colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6 DOID:0070273|OMIM:614331|UMLS:C1860896|MESH:C566039 owl:Class MONDO:0018630 biolink:NamedThing hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. tmpak2llvmy_mondo_relaxed.owl familial nonpolyposis colorectal cancer|familial nonpolyposis colon cancer|HNPCC|Hereditary nonpolyposis colorectal cancer (HNPCC)|colorectal cancer, hereditary nonpolyposis|hereditary nonpolyposis colorectal cancer|hereditary nonpolyposis colon cancer SCTID:315058005|Orphanet:443909|NCIT:C120083|OMIMPS:120435|UMLS:CN237674 https://github.com/monarch-initiative/mondo/issues/1673|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc owl:Class UBERON:0001905 biolink:NamedThing pineal body A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399). tmpak2llvmy_mondo_relaxed.owl frontal organ|epiphysis|pineal gland (Galen)|Pi|glandula pinealis|pineal organ|corpus pineale|epiphysis cerebri|stirnorgan|pineal|conarium|pineal gland owl:Class UBERON:0003296 biolink:NamedThing gland of diencephalon Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. tmpak2llvmy_mondo_relaxed.owl interbrain gland|diencephalon gland owl:Class UBERON:0001823 biolink:NamedThing nasal cartilage One of the cartilage structures in the nose that provide form and support[WP]. tmpak2llvmy_mondo_relaxed.owl cartilage of nose owl:Class UBERON:0007844 biolink:NamedThing cartilage element Skeletal element that is composed of cartilage tissue and may be permanent or transient. tmpak2llvmy_mondo_relaxed.owl cartilage|cartilaginous element|cartilage organ|chondrogenic element owl:Class MONDO:0010621 biolink:NamedThing CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. tmpak2llvmy_mondo_relaxed.owl child nevus|CHILD syndrome|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limbs defects|child syndrome|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|ichthyosis, child syndrome|congenital hemidysplasia with ichthyosiform nevus and limb defects OMIM:308050|ICD9:759.89|SCTID:17608003|ICD10:Q87.8|Orphanet:139|UMLS:C0265267|MESH:C562515|GARD:0006039 https://rarediseases.info.nih.gov/diseases/6039/child-syndrome owl:Class MONDO:0003341 biolink:NamedThing subungual glomus tumor A glomus tumor arising in the finger and usually associated with pain. tmpak2llvmy_mondo_relaxed.owl subungual glomus tumor UMLS:C1304510|SCTID:403973004|NCIT:C36079|DOID:5236|ICD9:228.09 owl:Class MONDO:0002295 biolink:NamedThing skin glomus tumor A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. tmpak2llvmy_mondo_relaxed.owl glomus tumor of the skin|glomus skin neoplasm|glomus tumor of skin|glomus neoplasm of the skin|glomus neoplasm of skin|skin glomus neoplasm|glomus skin tumor|zone of skin glomus tumor NCIT:C4491|SCTID:254795008|DOID:2430|UMLS:C0346083 owl:Class MONDO:0008075 biolink:NamedThing neurofibromatosis type 3 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. tmpak2llvmy_mondo_relaxed.owl neurilemmomatosis, congenital cutaneous|schwannomatosis|congenital cutaneous neurilemmomatosis|neurilemmomatosis|neurilemmomatosis congenital cutaneous|Schwannomatosis|NF3|Neurinomatosis|neurinoma Orphanet:93921|ICD10:Q85.0|ICD9:237.73|OMIMPS:162091|DOID:3204|GARD:0004768|UMLS:C1335929|ICDO:9560/1|NCIT:C6557|ICD10:Q85.03 owl:Class GO:0009968 biolink:NamedThing negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. tmpak2llvmy_mondo_relaxed.owl down-regulation of signal transduction|inhibition of signal transduction|negative regulation of signaling pathway|down regulation of signal transduction|downregulation of signal transduction|negative regulation of signalling pathway owl:Class GO:0010648 biolink:NamedThing negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905952 biolink:NamedThing regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. tmpak2llvmy_mondo_relaxed.owl regulation of lipid localisation owl:Class MONDO:0002516 biolink:NamedThing digestive system cancer A primary or metastatic malignant neoplasm involving any part of the digestive system. tmpak2llvmy_mondo_relaxed.owl malignant gastrointestinal system neoplasm|malignant digestive system neoplasm|gastrointestinal system cancer|malignant neoplasm of digestive system|GI tumor|gastrointestinal tract cancer|cancer of digestive system|digestive system cancer|malignant gastrointestinal neoplasm DOID:3119|ICD10:C26.9|NCIT:C4890|ICD10:C15.C26|ICD9:239.0 owl:Class MONDO:0032895 biolink:NamedThing developmental and epileptic encephalopathy, 83 tmpak2llvmy_mondo_relaxed.owl Barakat-Perenthaler Syndrome|EIEE83|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83|epileptic encephalopathy, early infantile, 83|DEE83 OMIM:618744 owl:Class GO:0061138 biolink:NamedThing morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002009 biolink:NamedThing morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. tmpak2llvmy_mondo_relaxed.owl epithelium morphogenesis owl:Class UBERON:0007010 biolink:NamedThing cleaving embryo Organism at the cleavage stage. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000468 biolink:NamedThing multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. tmpak2llvmy_mondo_relaxed.owl whole organism|animal|Koerper|multi-cellular organism|organism|body|whole body owl:Class UBERON:0003330 biolink:NamedThing submucosa of rectum The submucous layer of the wall of the rectum. tmpak2llvmy_mondo_relaxed.owl rectal submucosa|rectum submucosa|tela submucosa recti owl:Class MONDO:0001468 biolink:NamedThing synovial plica syndrome tmpak2llvmy_mondo_relaxed.owl plica syndrome|synovial plica of knee ICD10:M67.5|ICD9:727.83|UMLS:C0410485|ICD9:727.9|SCTID:240171001|DOID:12225 owl:Class MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. tmpak2llvmy_mondo_relaxed.owl Joint ankylosis of the ankle and foot|ankylosis of joint of pelvic region and thigh|ankylosis of multiple joints|Joint ankylosis of the upper arm|ankylosis of joint of hand|ankylosis of upper arm joint|arthropathy|Joint ankylosis of the hand|ankylosis of joint of multiple sites|joint disease|Joint ankylosis of the shoulder region|ankylosis of joint of ankle and/or foot|Joint ankylosis of the pelvic region and thigh|joint disorder|ankylosis of ankle and foot joint|ankylosis of hand joint|infectious arthropathy|disorder of skeletal joint|ankylosis of forearm joint|ankylosis of joint of upper arm|skeletal joint disease or disorder|ankylosis of joint of forearm|Joint ankylosis of the forearm|ankylosis of joint of shoulder region|ankylosis of lower leg joint|ankylosis of joint of lower leg|Joint ankylosis of the ankle and/or foot|disease of skeletal joint|disorder, Joint|arthrosis|Joint disorder|disease or disorder of skeletal joint|disorder of joint|skeletal joint disease|Joint ankylosis of the lower leg ICD9:719.90|ICD10:M19.90|ICD9:716.98|SCTID:399269003|ICD9:716.9|ICD10:M00-M02|ICD9:719.89|NCIT:C35760|UMLS:C0022408|ICD9:711|ICD10:M15.M19|MESH:D007592|ICD9:716.88|ICD10:M25.9|EFO:1000999|ICD9:719.98|ICD10:M12.9|ICD9:719.88|ICD9:716.90|ICD9:719.9|ICD9:719.80|ICD9:716.80|DOID:381|MedDRA:10003285 owl:Class MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. tmpak2llvmy_mondo_relaxed.owl melanoma of the leptomeninges|leptomeningeal melanoma|meningeal melanoma|leptomeninx melanoma|leptomeninx melanoma (disease)|melanoma (disease) of leptomeninx|melanoma of leptomeninges|malignant melanoma of meninges SCTID:277530005|UMLS:C1334386|DOID:6085|NCIT:C5317 Editor note: TODO check meninx vs leptomeninges owl:Class MONDO:0012604 biolink:NamedThing isolated microphthalmia 3 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated 3|isolated microphthalmia caused by mutation in RAX|isolated microphthalmia 3|isolated microphthalmia caused by mutation in rax|MCOP3|rax isolated microphthalmia|RAX isolated microphthalmia|microphthalmia, isolated type 3|isolated microphthalmia type 3 DOID:0060842|OMIM:611038|UMLS:C1970237|ICD10:Q11.0|MESH:C567025 owl:Class MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic microphthalmia|microphthalmia, isolated DOID:0080637|OMIMPS:251600 owl:Class UBERON:0001484 biolink:NamedThing articular capsule An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl capsulae articulares|capsula articularis|joint capsule|fibrous capsule of joint|joint fibrous capsule owl:Class UBERON:0000094 biolink:NamedThing membrane organ Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA] tmpak2llvmy_mondo_relaxed.owl membrane of organ|membrane owl:Class UBERON:0010899 biolink:NamedThing synchronous hermaphroditic organism Hermaphroditic organism that produces both male and female gametes at the same time. tmpak2llvmy_mondo_relaxed.owl serially hermaphroditic organism|simultaneous hermaphroditic organism owl:Class GO:0002562 biolink:NamedThing somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002200 biolink:NamedThing somatic diversification of immune receptors The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009910 biolink:NamedThing Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. tmpak2llvmy_mondo_relaxed.owl neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome|Wiedemann Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal MESH:C536423|SCTID:238874008|OMIM:264090|Orphanet:3455|ICD9:259.8|NCIT:C121565|UMLS:C0406586|ICD10:E34.8|GARD:0000330 owl:Class MONDO:0020162 biolink:NamedThing secondary ectropion tmpak2llvmy_mondo_relaxed.owl Orphanet:98571|ICD10:H02.1 owl:Class GO:0071383 biolink:NamedThing cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032870 biolink:NamedThing cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology tmpak2llvmy_mondo_relaxed.owl 2016-08-12 11:24:56+00:00 HPO:probinson human_phenotype owl:Class MONDO:0014180 biolink:NamedThing epidermolysis bullosa simplex due to BP230 deficiency tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive type 2|DST-related epidermolysis bullosa simplex|EBSB2|EBS-AR BP230|epidermolysis bullosa simplex, autosomal recessive 2 OMIM:615425|ICD10:Q81.0|UMLS:C3809470|Orphanet:412181 owl:Class MONDO:0015551 biolink:NamedThing basal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. tmpak2llvmy_mondo_relaxed.owl stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis ICD10:Q81.0|UMLS:C4302031|Orphanet:158665|SCTID:723163000 owl:Class MONDO:0015458 biolink:NamedThing intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag GARD:0012487|Orphanet:1495|ICD10:Q87.8|SCTID:722455002|UMLS:CN199578 owl:Class UBERON:0006761 biolink:NamedThing corneo-scleral junction the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm tmpak2llvmy_mondo_relaxed.owl cornea limbus|corneal limbus|sclerocorneal junction|limbus corneae|sclerocorneal limbus|corneal-scleral limbus|corneoscleral junction owl:Class UBERON:0007651 biolink:NamedThing anatomical junction An anatomical structure that connects two structures tmpak2llvmy_mondo_relaxed.owl junction|anatomical junction owl:Class MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 7|spastic paraplegia 7|hereditary spastic paraplegia 7|spastic paraplegia type 7|SPG7 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 7|spastic paraplegia 7, autosomal recessive|hereditary spastic paraplegia paraplegin type|SPG7|hereditary spastic paraplegia caused by mutation in SPG7 MESH:C564599|OMIM:607259|Orphanet:99013|UMLS:C1846564|DOID:0110816|ICD10:G11.4|GARD:0004927|UMLS:C3711370|SCTID:715776003 owl:Class MONDO:0001835 biolink:NamedThing facial paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. tmpak2llvmy_mondo_relaxed.owl face palsy|palsy of face|facial palsy DOID:13934|ICD10:G51.0|UMLS:C0015469|MESH:D005158|SCTID:280816001 owl:Class MONDO:0032918 biolink:NamedThing developmental and epileptic encephalopathy, 84 tmpak2llvmy_mondo_relaxed.owl EIEE84|epileptic encephalopathy, early infantile, 84|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84|Jamuar Syndrome|DEE84 OMIM:618792 owl:Class MONDO:0019474 biolink:NamedThing hepatosplenic T-cell lymphoma An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. tmpak2llvmy_mondo_relaxed.owl HSTCL|Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459|UMLS:C1333984|ICDO:9716/3|Orphanet:86882|ICD10:C86.1|ICD9:202.80|SCTID:445406001|ONCOTREE:HSTCL|MedDRA:10066957 owl:Class MONDO:0015760 biolink:NamedThing T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 tmpak2llvmy_mondo_relaxed.owl T-cell NHL|T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T cell lymphoma|T-cell lymphoma|T-cell non-Hodgkin's lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell non-Hodgkin lymphoma MedDRA:10042971|Orphanet:171918|SCTID:109978004|NCIT:C3466|UMLS:C0079772|ICD9:202.70|MESH:D016399 owl:Class ENVO:01001205 biolink:NamedThing lithification A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000043 biolink:NamedThing material transformation process A process during which a portion of some environmental material is converted into a different material or a collection of materials. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900404 biolink:NamedThing positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair. tmpak2llvmy_mondo_relaxed.owl activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0003665 biolink:NamedThing cervical endometrioid adenocarcinoma A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. tmpak2llvmy_mondo_relaxed.owl uterine cervix endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix uteri|cervical endometrioid adenocarcinoma|endometrioid carcinoma of the cervix|endometrioid adenocarcinoma of the uterine cervix|endometrioid carcinoma of cervix uteri|cervical endometrioid carcinoma|endometrioid carcinoma of the uterine cervix|cervix uteri endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix uteri|uterine cervix endometrioid carcinoma|endometrioid carcinoma of uterine cervix|cervix uteri endometrioid carcinoma|cervix endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix|endometrioid adenocarcinoma of the cervix uteri|cervix endometrioid carcinoma NCIT:C6343|EFO:1000164|ONCOTREE:CEEN|UMLS:C1332913|DOID:5830 owl:Class MONDO:0005153 biolink:NamedThing cervical adenocarcinoma An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma - cervix|adenocarcinoma of uterine cervix|adenocarcinoma of cervix|uterine cervix adenocarcinoma|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|adenocarcinoma of the cervix uteri|cervix uteri adenocarcinoma|adenocarcinoma cervix uteri|cervix adenocarcinoma|cervical adenocarcinoma|adenocarcinoma of cervix uteri NCIT:C4029|SCTID:254887002|DOID:3702|EFO:0001416|ONCOTREE:CEAD owl:Class UBERON:0001732 biolink:NamedThing pharyngeal tonsil the lymph tissue in the roof and posterior wall of the nasopharynx tmpak2llvmy_mondo_relaxed.owl Rachenmandel|tonsil of Luschka|adenoid|tonsilla pharyngealis|nasopharyngeal tonsil|tonsilla pharyngea owl:Class UBERON:0012330 biolink:NamedThing nasal-associated lymphoid tissue The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals. tmpak2llvmy_mondo_relaxed.owl naso-pharyngeal lymphoid tissue|NALT owl:Class MONDO:0014159 biolink:NamedThing autosomal recessive spinocerebellar ataxia 14 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). tmpak2llvmy_mondo_relaxed.owl SPARCA|SPTBN2 autosomal recessive cerebellar ataxia|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|spectrin-associated autosomal recessive cerebellar ataxia type 1|spinocerebellar ataxia, autosomal recessive type 14|autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive spinocerebellar ataxia type 14|SPARCA1|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|autosomal recessive cerebellar ataxia-cognitive defect syndrome|SCAR14|spectrin-associated autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 14 DOID:0080058|SCTID:763351003|ICD10:G11.1|Orphanet:352403|UMLS:C3809327|OMIM:615386 owl:Class MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, autosomal recessive|arca UMLS:CN226644|DOID:0050950|Orphanet:1172|OMIMPS:213200 owl:Class UBERON:0001459 biolink:NamedThing skin of external ear A zone of skin that is part of a external ear [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of auricular region of head|outer ear zone of skin|external ear skin|zone of skin of outer ear|zone of skin of auricular region|zone of skin of external ear|ear skin|external ear zone of skin|auricular region zone of skin|auricular region of head zone of skin owl:Class UBERON:0000014 biolink:NamedThing zone of skin Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. tmpak2llvmy_mondo_relaxed.owl region of skin|skin zone|skin|portion of skin|skin region owl:Class MONDO:0014061 biolink:NamedThing Steel syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. tmpak2llvmy_mondo_relaxed.owl dislocated hips and radial heads, carpal coalition, scoliosis, and short stature|STLS|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|steel syndrome ICD10:Q87.5|UMLS:C3554594|Orphanet:438117|OMIM:615155 owl:Class UBERON:0001633 biolink:NamedThing basilar artery A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain. tmpak2llvmy_mondo_relaxed.owl BA owl:Class UBERON:0035307 biolink:NamedThing branch of vertebral artery tmpak2llvmy_mondo_relaxed.owl vertebral arterial branch owl:Class MONDO:0000276 biolink:NamedThing Powassan encephalitis A disease caused by infection with Powassan virus. tmpak2llvmy_mondo_relaxed.owl Powassan virus disease or disorder|powassan encephalitis virus infection|Powassan virus caused disease or disorder|Powassan virus infectious disease|encephalitis, powassan UMLS:C0032858|DOID:0050179|SCTID:416707008|UMLS:C1563215|ICD9:063.8 owl:Class UBERON:0005753 biolink:NamedThing caudal part of nephrogenic cord The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. tmpak2llvmy_mondo_relaxed.owl rear part of nephrogenic cord|rear portion of nephrogenic cord|caudal region of nephrogenic cord|caudal portion of nephrogenic cord owl:Class CL:0002101 biolink:NamedThing CD38-positive naive B cell A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl CD38-positive naive B lymphocyte|CD38+ naive B-lymphocyte|CD38-positive naive B-cell|CD38-positive naive B-lymphocyte|CD38+ naive B lymphocyte|CD38+ naive B cell|CD38+ naive B-cell cell owl:Class CL:0000788 biolink:NamedThing naive B cell A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl naive B-cell|naive B-lymphocyte|naive B lymphocyte This cell type is compatible with the HIPC Lyoplate markers for 'naive B cell'. Per DSD: Naive B cells are also reportedly CD10-negative, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD25-negative, CD27-negative, CD34-negative, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD80-negative, CD81-positive, CD84-positive, CD86-negative, CD95-negative, CD138-negative, CD150-positive, CD184/CXCR4-positive, CD185/CXCR5-positive, CD196/CCR6-positive, CD200-positive, CD229-positive, CD243-positive, CD289-positive, CD290-positive, CD352-positive, MHCII/HLA-DR-positive, cadherin 9-positive, and sIgH-positive, Transcription factors: Pax5-positive, ETS1-positive, FOXO1A-positive, KLF4-positive, KLF9-positive, MiTF-positive, OBF1-positive, PLZF-positive, and SpiB-positive. cell owl:Class MONDO:0007745 biolink:NamedThing Gilbert syndrome An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. tmpak2llvmy_mondo_relaxed.owl hyperbilirubinemia, Arias type|hyperbilirubinemia, Gilbert type|Gilbert's disease|hyperbilirubinemia 1|hereditary nonhemolytic jaundice|Gilbert's syndrome|Gilbert-Meulengracht syndrome|constitutional hyperbilirubinemia|Gilbert disease|Gilbert syndrome SCTID:27503000|DOID:2739|MESH:D005878|NCIT:C84729|ICD10:E80.4|EFO:0005556|GARD:0006507|OMIM:143500 owl:Class MONDO:0010906 biolink:NamedThing orofacial cleft 11 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. tmpak2llvmy_mondo_relaxed.owl orofacial cleft type 11|cleft Lip, congenital Healed|orofacial cleft caused by mutation in BMP4|cleft lip with or without cleft palate, nonsyndromic, 11|BMP4 orofacial cleft|OFC11|orofacial cleft 11|congenital Healed cleft lip UMLS:C2677434|DOID:0080404|OMIM:600625 owl:Class MONDO:0016044 biolink:NamedThing cleft lip/palate Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. tmpak2llvmy_mondo_relaxed.owl FLP|cleft lip and palate|alveolar cleft lip and palate|cleft lip-alveolus-palate syndrome ICD10:Q37.9|ICD10:Q37.8|Orphanet:199306|MedDRA:10009260|SCTID:66948001|ICD9:749.25|ICD10:Q37.2|ICD10:Q37.0|ICD10:Q37.5|ICD10:Q37.3|ICD10:Q37.4|ICD10:Q37.1|ICD9:749.20 owl:Class MONDO:0008145 biolink:NamedThing Ollier disease A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. tmpak2llvmy_mondo_relaxed.owl enchondromatosis with haemangiomata|multiple enchondromatosis|enchondromatosis, multiple, Ollier type|Ollier disease|enchondromatosis|Kast's syndrome|dyschondroplasia|Ollier's disease|enchondromatosis, multiple|multiple cartilaginous enchondroses|osteochondromatosis DOID:4624|UMLS:C0014084|GARD:0007251|ICD10:Q78.4|SCTID:268274005|OMIM:166000|MedDRA:10014642|UMLS:CN203308|Orphanet:296|NCIT:C3008|UMLS:C0206641 https://rarediseases.info.nih.gov/diseases/7251/ollier-disease owl:Class MONDO:0020063 biolink:NamedThing malformation syndrome with hamartosis tmpak2llvmy_mondo_relaxed.owl Dysmorphologic diseases with phakomatosis 2022-03-01 UMLS:CN206967|Orphanet:98196 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0013870 biolink:NamedThing TMEM165-CDG TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). tmpak2llvmy_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IIk|CDG IIk|congenital disorder of glycosylation, type IIk|CDG-IIk|congenital disorder of glycosylation type 2k|congenital disorder of glycosylation type IIk|TMEM165-CDG (CDG-IIk)|CDG syndrome type IIk|CDG2K GARD:0012413|Orphanet:314667|DOID:0070263|OMIM:614727|ICD10:E77.8|SCTID:732252005|UMLS:C3553571 owl:Class MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl disorder of protein N-linked glycosylation|protein N-linked glycosylation disease UMLS:CN227187|Orphanet:309347|ICD10:E77.8 owl:Class UBERON:0004554 biolink:NamedThing hindlimb digital artery A digital artery that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindlimb digital arteries|digital artery of foot owl:Class UBERON:0003516 biolink:NamedThing hindlimb blood vessel A blood vessel that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb blood vessel|blood vessel of lower extremity|blood vessel of hind limb|blood vessel of hindlimb owl:Class MONDO:0024299 biolink:NamedThing vitamin D-dependent rickets tmpak2llvmy_mondo_relaxed.owl VDDR UMLS:C0221468|SCTID:68295002 owl:Class MONDO:0005520 biolink:NamedThing rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. tmpak2llvmy_mondo_relaxed.owl rickets (disease)|vitamin D hydroxylation-deficient rickets|rachitis|hypovitaminosis D|active rickets|vitamin-D deficiency rickets|rickets|vitamin D deficiency disease|nutritional rickets rickets (disease) NCIT:C26878|MESH:D012279|ICD9:268.0|DOID:10609|ICD10:E55.0|GARD:0005700|HP:0002748|EFO:0005583|UMLS:C0035579|SCTID:41345002 owl:Class MONDO:0044655 biolink:NamedThing c12orf65-related combined oxidative phosphorylation defect tmpak2llvmy_mondo_relaxed.owl C12ORF65-related COXPD Orphanet:497623 owl:Class MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. tmpak2llvmy_mondo_relaxed.owl neuroendocrine carcinoma of liver|liver neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|PHNEC|primary liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|HNEC|liver neuroendocrine cancer Orphanet:100085|NCIT:C96787|UMLS:CN197365|UMLS:C3273031|SCTID:716652006|ICD10:C22.7 owl:Class CL:0002433 biolink:NamedThing CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpak2llvmy_mondo_relaxed.owl intermediate CD4-single-positive|T.4SP69+.Th tmeehan 2010-10-21T02:46:02Z cell owl:Class CL:0000810 biolink:NamedThing CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. tmpak2llvmy_mondo_relaxed.owl CD4-positive, alpha-beta immature T lymphocyte|CD4-positive, alpha-beta immature T-lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-cell cell owl:Class HGNC:2190 biolink:NamedThing COL13A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014883 biolink:NamedThing hypertrophic cardiomyopathy 26 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. tmpak2llvmy_mondo_relaxed.owl CMH26|cardiomyopathy, familial hypertrophic, 26|cardiomyopathy familial hypertrophic 26|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy caused by mutation in FLNC|FLNC hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 26|cardiomyopathy, familial restrictive, 5 DOID:0110327|UMLS:C4310749|OMIM:617047 owl:Class MONDO:0005045 biolink:NamedThing hypertrophic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. tmpak2llvmy_mondo_relaxed.owl hypertrophic subaortic stenosis|hypertrophic obstructive cardiomyopathy|HCM - hypertrophic cardiomyopathy|obstructive hypertrophic cardiomyopathy|hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy MedDRA:10020871|Orphanet:217569|ICD9:425.1|SCTID:233873004|ICD9:425.11|EFO:0000538|ICD9:425.4|DOID:11984|NCIT:C34449|KEGG:05410|MESH:D002312|ICD10:I42.1|UMLS:C0007194 owl:Class MONDO:0001323 biolink:NamedThing infant gynecomastia Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. tmpak2llvmy_mondo_relaxed.owl breast engorgement in newborn|neonatal gynaecomastia ICD9:778.7|UMLS:C1449721|SCTID:34831003|DOID:11603|ICD10:P83.4 owl:Class MONDO:0001571 biolink:NamedThing gynecomastia Development of breast tissue in males. tmpak2llvmy_mondo_relaxed.owl hypertrophy of breast of male organism|male organism hypertrophy of breast DOID:12698|UMLS:C0018418|MESH:D006177|ICD10:N62|HP:0000771|NCIT:C3073|SCTID:4754008 owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. tmpak2llvmy_mondo_relaxed.owl Pigmented macular degeneration SNOMEDCT_US:422338006|UMLS:C0024437 HP:0007694|HP:0007868 human_phenotype owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. tmpak2llvmy_mondo_relaxed.owl Retina degeneration SNOMEDCT_US:95695004|MSH:D012162|UMLS:C0035304 HP:0007632|HP:0007893|HP:0007790|HP:0007863 human_phenotype owl:Class MONDO:0001103 biolink:NamedThing giardiasis An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. tmpak2llvmy_mondo_relaxed.owl beaver feaver|infection by Giardia lamblia|Giardiases|infections, Giardia|Giardia|Giardia infection|Lambliases|lambliasis MESH:D005873|ICD10:A07.1|UMLS:C0017536|ICD9:007.1|DOID:10718|SCTID:10679007 owl:Class MONDO:0024270 biolink:NamedThing parasitic intestinal disease Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. tmpak2llvmy_mondo_relaxed.owl intestine parasitic infection|parasitic intestinal diseases|intestinal disease, parasitic|disease, parasitic intestinal|diseases, parasitic intestinal|parasitic intestinal disease MESH:D007411|UMLS:C0021832 owl:Class GO:0002821 biolink:NamedThing positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. tmpak2llvmy_mondo_relaxed.owl up-regulation of adaptive immune response|up regulation of adaptive immune response|upregulation of adaptive immune response|activation of adaptive immune response|stimulation of adaptive immune response owl:Class GO:0050778 biolink:NamedThing positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpak2llvmy_mondo_relaxed.owl up-regulation of immune response|stimulation of immune response|upregulation of immune response|up regulation of immune response owl:Class MONDO:0003283 biolink:NamedThing epididymal neoplasm A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl epididymis tumor|neoplasm of epididymis|tumor of epididymis|epididymis neoplasm|epididymal neoplasm|neoplasm of epididymus|epididymis neoplasm (disease) ICD9:239.5|DOID:512|UMLS:C0346239|NCIT:C39958|SCTID:126902008 owl:Class NCIT:C19160 biolink:NamedThing Occupation or Discipline A grouping of occupations and fields of study. tmpak2llvmy_mondo_relaxed.owl Occupation or Discipline owl:Class NCIT:C20181 biolink:NamedThing Conceptual Entity An organizational header for concepts representing mostly abstract entities. tmpak2llvmy_mondo_relaxed.owl Conceptual Entity owl:Class UBERON:0012363 biolink:NamedThing thyroid follicle epithelium A epithelium that is part of a thyroid follicle. tmpak2llvmy_mondo_relaxed.owl thryoid epithelium|thyroid follicle epithelium|epithelium of thyroid follicle|wall of thyroid follicle owl:Class GO:0014048 biolink:NamedThing regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044070 biolink:NamedThing regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017897 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. tmpak2llvmy_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency 2022-03-01 ICD10:D84.8|UMLS:CN203953|Orphanet:319535 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class MONDO:0020636 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a complete deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090303 biolink:NamedThing positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061041 biolink:NamedThing regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007188 biolink:NamedThing primary basilar invagination Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. tmpak2llvmy_mondo_relaxed.owl primary basilar impression|Bull-Nixon syndrome|basilar impression, primary MESH:C566226|Orphanet:2285|UMLS:C1862299|OMIM:109500|ICD10:Q75.8|GARD:0001037 owl:Class MONDO:0015141 biolink:NamedThing disorder of medulla oblongata A disease that involves the medulla oblongata. tmpak2llvmy_mondo_relaxed.owl medullar disease|medulla oblongata disease or disorder|disease or disorder of medulla oblongata|disorder of medulla oblongata|medulla oblongata disease|disease of medulla oblongata UMLS:CN197487|Orphanet:102000 owl:Class MONDO:0019446 biolink:NamedThing localized lichen myxedematosus Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. tmpak2llvmy_mondo_relaxed.owl papular mucinosis Orphanet:86795|GARD:0007321|ICD10:L98.5 owl:Class MONDO:0018432 biolink:NamedThing lichen myxedematosus tmpak2llvmy_mondo_relaxed.owl lichenoid myxedema|papular mucinosis|lichen myxoedematosus ICD9:701.8|Orphanet:402007|SCTID:111197009|ICD10:L98.5 owl:Class UBERON:0010284 biolink:NamedThing lacrimal punctum A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi. tmpak2llvmy_mondo_relaxed.owl lacrimal puncta|puncta lacrimalia|lacrimal point owl:Class UBERON:0022292 biolink:NamedThing splenic arteriole tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001980 biolink:NamedThing arteriole The smallest division of the artery located between the muscular arteries and the capillaries[GO]. tmpak2llvmy_mondo_relaxed.owl arteriola owl:Class GO:0051345 biolink:NamedThing positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpak2llvmy_mondo_relaxed.owl hydrolase activator|stimulation of hydrolase activity|upregulation of hydrolase activity|up-regulation of hydrolase activity|up regulation of hydrolase activity|activation of hydrolase activity owl:Class GO:0043085 biolink:NamedThing positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl stimulation of enzyme activity|up regulation of enzyme activity|positive regulation of enzyme activity|upregulation of metalloenzyme activity|up regulation of metalloenzyme activity|up-regulation of metalloenzyme activity|activation of enzyme activity|upregulation of enzyme activity|positive regulation of metalloenzyme activity|activation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity owl:Class MONDO:0019518 biolink:NamedThing Waardenburg-Shah syndrome Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. tmpak2llvmy_mondo_relaxed.owl Shah-Waardenburg syndrome|WS4|Waardenburg-Shah syndrome|Waardenburg-Hirschsprung disease|Waardenburg syndrome type 4|Hirschsprung disease with pigmentary anomaly|Waardenburg syndrome type IV|Waardenburg-Hirschsprung syndrome UMLS:CN206330|GARD:0005524|Orphanet:897|ICD10:Q87.8|NCIT:C124842 https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 owl:Class MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. tmpak2llvmy_mondo_relaxed.owl disorder of intestinal motility owl:Class UBERON:0003278 biolink:NamedThing skeleton of lower jaw A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. tmpak2llvmy_mondo_relaxed.owl mandibles|lower jaw|lower jaw skeleton|mandible|mandibular series owl:Class MONDO:0010635 biolink:NamedThing hypogonadotropic hypogonadism 1 with or without anosmia The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism and anosmia|dysplasia olfactogenitalis of de Morsier|Kallmann syndrome 1|KMS|ANOS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 1 with or without anosmia|KAL1|HH1|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, type 1, X-linked|Kallmann syndrome, X-linked|hypogonadotropic hypogonadism caused by mutation in ANOS1|anosmic hypogonadism DOID:0090094|GARD:0003071|ICD10:E23.0|NCIT:C75480|OMIM:308700|UMLS:C1563719 owl:Class MONDO:0018555 biolink:NamedThing hypogonadotropic hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. tmpak2llvmy_mondo_relaxed.owl gonadotropic deficiency|secondary hypogonadism|normosmic congenital hypogonadotropic hypogonadism|congenital idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|hypogonadotropic hypogonadism|isolated hypogonadotropic hypogonadism|isolated congenital gonadotropin deficiency|hypogonadism, hypogonadotropic|low gonadotropins (secondary hypogonadism)|Normosmic idiopathic hypogonadotropic hypogonadism|nIHH|hypogonadotropism|central hypogonadism NCIT:C113347|Orphanet:432|ICD10:E23.0|UMLS:CN235466|ICD9:253.4|DOID:0090070|SCTID:33927004|DOID:7455|HP:0000044|OMIMPS:147950 owl:Class UBERON:0003259 biolink:NamedThing endoderm of midgut An endoderm that is part of a midgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl midgut endoderm owl:Class UBERON:0003352 biolink:NamedThing epithelium of midgut An epithelium that is part of a midgut. tmpak2llvmy_mondo_relaxed.owl midgut epithelial tissue|midgut epithelium|epithelial tissue of midgut owl:Class MONDO:0001890 biolink:NamedThing pulp erosion A tooth erosion, non-bacterial that involves the dental pulp. tmpak2llvmy_mondo_relaxed.owl tooth erosion, non-bacterial of dental pulp|dental pulp tooth erosion, non-bacterial DOID:14140|ICD9:521.33 owl:Class MONDO:0003394 biolink:NamedThing dental pulp disease A disease involving the dental pulp. tmpak2llvmy_mondo_relaxed.owl pulp disorder|disorder of pulp of tooth|dental pulp disease or disorder|dental pulp disorder|disorder of dental pulp|disease of dental pulp|dental pulp disease|disease or disorder of dental pulp NCIT:C34530|ICD9:522.9|DOID:5330|UMLS:C0011405|MESH:D003788|SCTID:57203004 owl:Class MONDO:0010118 biolink:NamedThing inherited threoninemia tmpak2llvmy_mondo_relaxed.owl threoninemia|hyperthreoninemia OMIM:273770 owl:Class MONDO:0021011 biolink:NamedThing hereditary progressive chorea without dementia tmpak2llvmy_mondo_relaxed.owl BHC|hereditary progressive chorea without dementia|BCH|chorea, benign hereditary OMIM:118700 owl:Class MONDO:0017161 biolink:NamedThing frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. tmpak2llvmy_mondo_relaxed.owl FTD-ALS|FTDALS|FTD-MND|frontotemporal dementia with amyotrophic lateral sclerosis|frontotemporal dementia with ALS OMIMPS:105550|UMLS:C3888102|Orphanet:275872|UMLS:CN239493 owl:Class MONDO:0015547 biolink:NamedThing genetic dementia Genetic dementia. tmpak2llvmy_mondo_relaxed.owl genetic dementia Orphanet:158124 owl:Class MONDO:0006077 biolink:NamedThing adrenal medullary hyperplasia A hyperplasia that involves the adrenal medulla. tmpak2llvmy_mondo_relaxed.owl adrenal medulla hyperplasia EFO:1000076|NCIT:C35838 owl:Class MONDO:0009792 biolink:NamedThing ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Clayton Smith-Donnai syndrome|unusual facies, digital abnormalities, and ichthyosis|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis MESH:C536272|OMIM:258840|UMLS:C1850268|Orphanet:2272|GARD:0002960 owl:Class MONDO:0014602 biolink:NamedThing intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 35|mental retardation, autosomal dominant 35|intellectual disability, autosomal dominant 35|intellectual disability, autosomal dominant type 35|autosomal dominant intellectual disability 35|MRD35|mental retardation, autosomal dominant type 35|autosomal dominant mental retardation 35 OMIM:616355|UMLS:C4225354|DOID:0070065|Orphanet:457279 owl:Class ENVO:01001002 biolink:NamedThing animal-associated environment An environmental system determined by an animal. tmpak2llvmy_mondo_relaxed.owl animal environment|Metazoan-associated environment owl:Class ENVO:01001000 biolink:NamedThing environmental system determined by an organism An environmental system which is determined by a living organism. tmpak2llvmy_mondo_relaxed.owl host-associated environment owl:Class MONDO:0017456 biolink:NamedThing central polydactyly of fingers tmpak2llvmy_mondo_relaxed.owl central polydactyly of hand|central polydactyly|mesoaxial polydactyly|mirror hand|mesoaxial polydactyly of fingers SCTID:205130008|GARD:0012769|ICD10:Q69.0|Orphanet:295004 owl:Class MONDO:0011348 biolink:NamedThing non-syndromic polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. tmpak2llvmy_mondo_relaxed.owl supernumerary digits|Extra digits|isolated polydactyly (disease)|nonsyndromic polydactyly|isolated polydactyly|nonsyndromic polydactyly (disease)|polydactylia ICD10:Q69.9|GARD:0004410|ICD10:Q69.2|ICD10:Q69.1|ICD10:Q69.0|Orphanet:2913|MedDRA:10036063 Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0018575 biolink:NamedThing microcephalic primordial dwarfism-insulin resistance syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN237592|Orphanet:436182|ICD10:Q87.1 owl:Class MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary primary ovarian failure|inherited premature ovarian failure|non-acquired premature ovarian failure OMIMPS:311360|Orphanet:95710|ICD10:E28.3 owl:Class MONDO:0007780 biolink:NamedThing hypertelorism, Teebi type Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. tmpak2llvmy_mondo_relaxed.owl Teebi syndrome|craniofrontonasal dysplasia, Teebi type|Brachycephalofrontonasal dysplasia|hypertelorism, Teebi type|Teebi hypertelorism syndrome Orphanet:1519|ICD10:Q87.0|OMIM:145420|UMLS:C0796179|GARD:0000957|UMLS:CN199596|SCTID:724284005 owl:Class MONDO:0016643 biolink:NamedThing frontonasal dysplasia A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. tmpak2llvmy_mondo_relaxed.owl median cleft syndrome|FND1|frontonasal dysplasia 1|median cleft face syndrome SCTID:86610004|MESH:C538065|GARD:0002392|ICD10:Q75.8|OMIMPS:136760|UMLS:C1876203|Orphanet:250 owl:Class UBERON:0003055 biolink:NamedThing periderm A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. tmpak2llvmy_mondo_relaxed.owl epidermis outer layer|epidermis epithelial layer|epitrichium|periderm|EVL|skin periderm owl:Class UBERON:0010371 biolink:NamedThing ecto-epithelium Epithelium composed of cells that develops from the ectoderm[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl ectoderm-derived epithelium owl:Class UBERON:0008196 biolink:NamedThing muscle of pectoral girdle Any muscle organ that is part of a pectoral girdle region. tmpak2llvmy_mondo_relaxed.owl pectoral girdle muscle|muscle of shoulder girdle owl:Class CHEBI:28829 biolink:NamedThing aminophenol A substituted aniline carrying a hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxyaniline|aminobenzenol|aminophenol owl:Class CHEBI:48975 biolink:NamedThing substituted aniline tmpak2llvmy_mondo_relaxed.owl substituted anilines owl:Class GO:1904690 biolink:NamedThing positive regulation of cytoplasmic translational initiation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. tmpak2llvmy_mondo_relaxed.owl upregulation of cytoplasmic translational initiation|activation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation owl:Class GO:1904688 biolink:NamedThing regulation of cytoplasmic translational initiation Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000490 biolink:NamedThing mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. tmpak2llvmy_mondo_relaxed.owl peritoneal mesothelial cell FMA:86736 cell owl:Class CL:0000077 biolink:NamedThing mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. tmpak2llvmy_mondo_relaxed.owl mesotheliocyte FMA:66773 cell owl:Class MONDO:0011171 biolink:NamedThing odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl ODONTOTRICHOUNGUAL-digital-palmar syndrome|Otudp syndrome|OTUDP syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Orphanet:69082|MESH:C566598|SCTID:722063009|OMIM:601957|UMLS:C1865998 owl:Class MONDO:0012335 biolink:NamedThing obesity due to pro-opiomelanocortin deficiency Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. tmpak2llvmy_mondo_relaxed.owl obesity, early-onset, with adrenal insufficiency and RED hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|PROOPIOMELANOCORTIN deficiency|obesity, early-onset, with adrenal insufficiency and Red hair UMLS:C1857854|MESH:C565726|GARD:0010823|SCTID:702949005|ICD9:255.5|OMIM:609734|Orphanet:71526|ICD10:E66.8 owl:Class MONDO:0015825 biolink:NamedThing obesity due to congenital leptin resistance tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:179490|ICD10:E66.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: genetic non-syndromic obesity' MONDO_0020075 owl:Class MONDO:0005687 biolink:NamedThing Caliciviridae infectious disease Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. tmpak2llvmy_mondo_relaxed.owl infections, Caliciviridae|infections, Calicivirus|infection, Caliciviridae|Caliciviridae infection|Calicivirus infection|infection, Calicivirus|Calicivirus infections EFO:0007189|MESH:D017250 owl:Class MONDO:0100329 biolink:NamedThing primary viral infectious disease The initial viral infectious disase that causes illness. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0100156 biolink:NamedThing Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. tmpak2llvmy_mondo_relaxed.owl Mga1|MGA1|enterocyte cobalamin malabsorption|megaloblastic anemia, Finnish type|Imerslund-Grasbeck syndrome type 1|MGA-1|megaloblastic anemia, 1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|megaloblastic Anemia type 1|enterocyte intrinsic factor receptor, defect of OMIM:261100|NCIT:C131677 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005851 biolink:NamedThing Miller Fisher syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. tmpak2llvmy_mondo_relaxed.owl cranial variant of Guillain-Barre syndrome|Miller-Fisher syndrome|Miller-Fisher variant of Guillain-Barre syndrome|syndrome, Fisher|ophthalmoplegia, ataxia and areflexia syndrome|Fisher syndrome|Fisher's syndrome|cranial variant of Guillain-Barré syndrome|Miller Fisher variant of Guillain Barre syndrome|cranial variant of GBS|Guillain-Barre syndrome, Miller Fisher variant|syndrome, Miller-Fisher|Guillain Barre syndrome, Miller Fisher variant|syndrome, Miller Fisher EFO:0007371|DOID:12889|UMLS:C0393799|MedDRA:10049567|ICD10:G61.0|NCIT:C116958|MESH:D019846|GARD:0003668|Orphanet:98919|SCTID:1767005 owl:Class MONDO:0016494 biolink:NamedThing regional variant of Guillain-Barre syndrome tmpak2llvmy_mondo_relaxed.owl regional variant of GBS|regional variant of Guillain-Barré syndrome Orphanet:231416|UMLS:CN201496|ICD10:G61.0 owl:Class ENVO:09000008 biolink:NamedThing concentration of carbon atom in soil The concentration of a carbon atom when measured in soil. tmpak2llvmy_mondo_relaxed.owl soil carbon atom concentration owl:Class PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. tmpak2llvmy_mondo_relaxed.owl concentration owl:Class CHEBI:33720 biolink:NamedThing carbohydrate acid tmpak2llvmy_mondo_relaxed.owl carbohydrate acids|carbohydrate acid owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. tmpak2llvmy_mondo_relaxed.owl UMLS:C0553720|SNOMEDCT_US:17235000 Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 human_phenotype owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:165479004|UMLS:C0221281 General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z human_phenotype owl:Class CL:0001054 biolink:NamedThing CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. tmpak2llvmy_mondo_relaxed.owl monocyte This cell type is compatible with the HIPC Lyoplate markers for 'monocyte'. Note that while CD14 is considered a reliable marker for human monocytes, it is only expressed on approximately 85% of mouse monocytes. cell owl:Class CL:0000576 biolink:NamedThing monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpak2llvmy_mondo_relaxed.owl BTO:0000876|FMA:62864|CALOHA:TS-0638 Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0012735 biolink:NamedThing Temple-Baraitser syndrome Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. tmpak2llvmy_mondo_relaxed.owl severe mental retardation and absent nails of hallux and pollex|mental retardation, severe, and absent nails of hallux and pollex|intellectual disability, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|TMBTS|Temple-Baraitser syndrome EFO:0009062|UMLS:C2678486|ICD10:Q87.2|GARD:0009441|MESH:C567516|OMIM:611816|Orphanet:420561 owl:Class MONDO:0011586 biolink:NamedThing otosclerosis 2 tmpak2llvmy_mondo_relaxed.owl otosclerosis 2|OTSC2 UMLS:C1854022|OMIM:605727|MESH:C565302 owl:Class MONDO:0005376 biolink:NamedThing membranous glomerulonephritis A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. tmpak2llvmy_mondo_relaxed.owl membranous nephropathy|membranous Glomerulonephropathy ICD9:582.1|ICD10:N03.2|MESH:D015433|UMLS:C0017665|DOID:10976|ICD9:583.1|NCIT:C34645|EFO:0004254|SCTID:77182004 owl:Class MONDO:0002462 biolink:NamedThing glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. tmpak2llvmy_mondo_relaxed.owl nephritis of renal glomerulus|glomerulonephritis (disease)|renal glomerulus nephritis|glomerulonephritis|bright's disease|glomerular nephritis glomerulonephritis (disease) DOID:2921|ICD9:583.9|ICD10:N05|ICD10:N08|MESH:D005921|GARD:0006516|NCIT:C26784|HP:0000099|UMLS:C0017658|SCTID:36171008 owl:Class UBERON:0015214 biolink:NamedThing arcuate ligament A ligament that is part of a diaphragm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005181 biolink:NamedThing thoracic segment organ An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. tmpak2llvmy_mondo_relaxed.owl upper body organ owl:Class HsapDv:0000115 biolink:NamedThing 21-year-old human stage Young adult stage that refers to an adult who is over 21 and under 22. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005738 biolink:NamedThing echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. tmpak2llvmy_mondo_relaxed.owl echinococciasis|Echinococcus infectious disease|hepatic echinococcosis|echinococcosis, unspecified, of liver|Echinococcus disease or disorder|Echinococcus caused disease or disorder|echinococcosis of liver|liver echinococcus|echinococcus disease|echinococcal disease|hydatidosis|pulmonary echinococcosis|echinococcosis|hydatid disease DOID:1496|ICD10:B67.90|ICD9:122|ICD10:B67|MESH:D004443|EFO:0007245|ICD9:122.9|NCIT:C84682|SCTID:74942003|UMLS:C0013502 owl:Class MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic deafness Autosomal dominant form of nonsyndromic deafness. tmpak2llvmy_mondo_relaxed.owl autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant nonsyndromic hearing impairment|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant deafness|nonsyndromic deafness, autosomal dominant|autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic hearing loss and deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant isolated deafness|deafness, autosomal dominant Orphanet:90635|DOID:0050564|UMLS:CN043649|ICD10:H90.3|OMIMPS:124900 owl:Class MONDO:0010406 biolink:NamedThing chromosome Xp11.22 duplication syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 31|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|intellectual disability, X-linked 31|mental retardation, X-linked 17 OMIM:300705 owl:Class MONDO:0018149 biolink:NamedThing GM1 gangliosidosis GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. tmpak2llvmy_mondo_relaxed.owl Beta-galactosidase deficiency|Beta-galactosidase-1 deficiency|GM>1< gangliosidosis|GLB1 deficiency|beta-galactosidase deficiency|GLB 1 deficiency|Landing syndrome|Landing disease|Beta-galactosidosis|gangliosidosis GM1|deficiency of beta-galactosidase|Beta galactosidase 1 deficiency DOID:3322|UMLS:C0085131|GARD:0010891|MESH:D016537|NCIT:C84739|SCTID:124465002|Orphanet:354|ICD10:E75.19|ICD9:277.6|ICD10:E75.1 owl:Class UBERON:0005255 biolink:NamedThing pedal digit mesenchyme Mesenchyme that is part of a developing toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl finger ray mesenchyme|pedal digital ray mesenchyme|toe mesenchyme|foot digit mesenchyme|hind limb digit mesenchyme owl:Class UBERON:0010702 biolink:NamedThing digit mesenchyme Mesenchyme of the digit region. tmpak2llvmy_mondo_relaxed.owl digital ray owl:Class MONDO:0016340 biolink:NamedThing familial restrictive cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary restrictive cardiomyopathy ICD9:425.4|Orphanet:217635|SCTID:233878008|OMIMPS:115210 owl:Class MONDO:0005217 biolink:NamedThing familial cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cardiomyopathy SCTID:35728003|UMLS:C0264789|EFO:0002945|ICD9:425.4 owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. tmpak2llvmy_mondo_relaxed.owl 2017-03-17 17:47:04+00:00 robinp human_phenotype owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl Abnormality of cardiovascular system physiology UMLS:C4023587 peter 2011-03-03T10:23:19Z human_phenotype owl:Class GO:1903011 biolink:NamedThing negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. tmpak2llvmy_mondo_relaxed.owl down regulation of bone development|down-regulation of bone development|downregulation of bone development|inhibition of bone development owl:Class MONDO:0008408 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal dominant tmpak2llvmy_mondo_relaxed.owl amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal neuronopathy|scapuloperoneal spinal muscular atrophy|neurogenic scapuloperoneal amyotrophy, New England type|SPSMA EFO:1001992|GARD:0010314|OMIM:181405|SCTID:230248006|Orphanet:431255|DOID:0111552|ICD10:G12.1|ICD9:335.19 owl:Class MONDO:0001516 biolink:NamedThing spinal muscular atrophy Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl ICD10:G12.9|UMLS:C0026847|SCTID:5262007|DOID:12377|ICD9:335.1|EFO:0008525|GARD:0007674|MESH:D009134|NCIT:C85075|ICD9:335.10|ICD9:335.19 https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy owl:Class MONDO:0022760 biolink:NamedThing chromosome 22q deletion tmpak2llvmy_mondo_relaxed.owl 22q monosomy|partial monosomy 22q|monosomy 22q|22q deletion|deletion 22q GARD:0008668 https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion owl:Class MONDO:0005999 biolink:NamedThing tuberculous empyema An empyema resulting from infection by Mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl tuberculous empyema (& pleural) NCIT:C34575|UMLS:C0014014|EFO:0007528|SCTID:14527007|DOID:14305|MESH:D004654 owl:Class MONDO:0018667 biolink:NamedThing pleural empyema The presence of pus in the thoracic cavity, between the visceral and parietal pleura. tmpak2llvmy_mondo_relaxed.owl abscess of thorax|thorax abscess|pleural empyema|pyothorax|purulent pleuritis|empyema of pleura|pleural empyema (disease)|abscess of pleural cavity|empyema|purulent pleurisy pleural empyema (disease) ICD10:J86.9|Orphanet:449266|ICD10:J86|MESH:D016724|HP:0011919|SCTID:405950009|DOID:3798 owl:Class MONDO:0010879 biolink:NamedThing CODAS syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl cerebral, ocular, dental, auricular, and skeletal syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome ICD10:Q87.8|Orphanet:1458|SCTID:717772000|NCIT:C126744|GARD:0001418|UMLS:C1838180|MESH:C536434|DOID:0111274|OMIM:600373 https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome owl:Class MONDO:0006366 biolink:NamedThing Peutz-Jeghers polyp of the stomach A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. tmpak2llvmy_mondo_relaxed.owl Gastric Peutz-Jeghers polyp NCIT:C36205|UMLS:C1335398|EFO:1000471 owl:Class MONDO:0006224 biolink:NamedThing gastric hamartomatous polyp A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. tmpak2llvmy_mondo_relaxed.owl stomach hamartoma (disease)|hamartoma of stomach|hamartoma of the stomach|gastric hamartomatous polyp NCIT:C4373|UMLS:C0341225|SCTID:235685007|EFO:1000271 owl:Class UBERON:0003515 biolink:NamedThing forelimb blood vessel A blood vessel that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of fore limb|blood vessel of forelimb|fore limb blood vessel|wing blood vessel|blood vessel of upper extremity|anteriormost limb blood vessel|blood vessel of anteriormost limb owl:Class UBERON:0003514 biolink:NamedThing limb blood vessel A blood vessel that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of limb owl:Class MONDO:0003035 biolink:NamedThing ovarian angiosarcoma A malignant vascular neoplasm arising from the ovary. tmpak2llvmy_mondo_relaxed.owl hemangiosarcoma of the ovary|angiosarcoma (disease) of ovary|hemangiosarcoma of ovary|ovary angiosarcoma (disease)|angiosarcoma of ovary|ovarian hemangiosarcoma|angiosarcoma of the ovary DOID:4527|NCIT:C5232|UMLS:C1335152 owl:Class MONDO:0016982 biolink:NamedThing angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. tmpak2llvmy_mondo_relaxed.owl angiosarcoma|hemangiosarcoma, malignant|hemangiosarcoma|vascular sarcoma|malignant hemangioendothelioma|blood vessel sarcoma|angiosarcoma (disease)|malignant angioendothelioma|sarcoma of blood vessel angiosarcoma (disease) DOID:0001816|SCTID:403977003|ICD10:C49.9|MESH:D006394|MedDRA:10002476|HP:0200058|NCIT:C3088|EFO:0003968|UMLS:C0018923|ICDO:9120/3|ONCOTREE:ANGS|ICD9:171.9|Orphanet:263413|EFO:0003967 owl:Class MONDO:0008140 biolink:NamedThing ossified ear cartilages tmpak2llvmy_mondo_relaxed.owl ossified ear cartilages OMIM:165670|MESH:C563488|UMLS:C1833791 owl:Class MONDO:0014427 biolink:NamedThing cone-rod dystrophy 20 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in POC1B|cone-rod dystrophy type 20|POC1B cone-rod dystrophy|cone-rod dystrophy 20|CORD20 UMLS:C4014856|DOID:0111026|OMIM:615973 owl:Class MONDO:0015993 biolink:NamedThing cone-rod dystrophy Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. tmpak2llvmy_mondo_relaxed.owl cone rod dystrophy|cone-rod retinal dystrophy ICD10:H35.5|Orphanet:1872|GARD:0010790|DOID:0050572|OMIMPS:120970 owl:Class MONDO:0054866 biolink:NamedThing sudden arrhythmia death syndrome tmpak2llvmy_mondo_relaxed.owl sudden arrhythmic death syndrome|SADS|sudden cardiac death due to cardiac arrhythmia UMLS:C2721586|GARD:0009434|SCTID:735686002 owl:Class MONDO:0007264 biolink:NamedThing sudden cardiac arrest An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. tmpak2llvmy_mondo_relaxed.owl cardiac conduction Disorder|disorder of cardiac conduction|heart conduction disorder|cardiac conduction defect|familial sudden death|conduction disorder|sudden cardiac death OMIM:115080|SCTID:95281009|EFO:0004278|NCIT:C78245 Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. owl:Class MONDO:0018852 biolink:NamedThing achromatopsia Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. tmpak2llvmy_mondo_relaxed.owl Rod monochromacy|achromatopsia|complete or incomplete color blindness|ACHM|total color blindness|monochromatism|Rod monochromatism|Pingelapese blindness MedDRA:10000454|NCIT:C84528|Orphanet:49382|DOID:13911|UMLS:C0152200|ICD10:H53.5|ICD9:368.54|SCTID:102450007|ICD10:H53.51 Editor note: we include incomplete forms here, such as BCM owl:Class MONDO:0020208 biolink:NamedThing syndromic myopia A myopia (disease) that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with myopia (disease)|syndromic myopia (disease) Orphanet:98620|UMLS:CN227818 owl:Class MONDO:0002719 biolink:NamedThing conus medullaris neoplasm A neoplasm (disease) that involves the conus medullaris. tmpak2llvmy_mondo_relaxed.owl conus medullaris neoplasm (disease)|tumor of conus medullaris|conus medullaris neoplasm|neoplasm of the conus medullaris|conus medullaris tumor|tumor of the conus medullaris|neoplasm of conus medullaris DOID:3641|NCIT:C5443|UMLS:C1333153 owl:Class MONDO:0021234 biolink:NamedThing spinal cord neoplasm A neoplasm (disease) that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord neoplasm (disease)|tumor of the spinal cord|tumor of spinal cord|spinal cord tumor|neoplasm of the spinal cord|neoplasm of spinal cord NCIT:C3381|UMLS:C0037930 owl:Class GO:0099577 biolink:NamedThing regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099547 biolink:NamedThing regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013966 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 4 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. tmpak2llvmy_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|CPVT4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|ventricular tachycardia, catecholaminergic polymorphic, type 4|CVPT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 4 OMIM:614916|UMLS:C3554047|DOID:0060678|ICD10:I47.2 owl:Class MONDO:0017990 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. tmpak2llvmy_mondo_relaxed.owl CPVT|multifocal ventricular premature beats|polymorphic catecholergic ventricular tachycardia|bidirectional tachycardia induced by catecholamine|syncopal paroxysmal tachycardia|catecholamine-induced polymorphic ventricular tachycardia|malignant paroxysmal ventricular tachycardia|familial polymorphic ventricular tachycardia|double tachycardia induced by catecholamines|stress-induced polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic MESH:C536334|GARD:0004421|SCTID:419671004|UMLS:C1631597|OMIMPS:604772|ICD10:I47.2|Orphanet:3286|DOID:0060674 owl:Class MONDO:0020265 biolink:NamedThing mitochondrial disease with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98695|UMLS:CN207076 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. tmpak2llvmy_mondo_relaxed.owl MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825 peter 2013-03-12T12:21:08Z human_phenotype owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. tmpak2llvmy_mondo_relaxed.owl Sperm head anomaly UMLS:C4022702 hecht 2014-06-09T10:48:21Z human_phenotype owl:Class GO:0032217 biolink:NamedThing riboflavin transmembrane transporter activity Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpak2llvmy_mondo_relaxed.owl riboflavin transporter activity owl:Class GO:0090482 biolink:NamedThing vitamin transmembrane transporter activity Enables the transfer of a vitamin from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl vitamin or cofactor transporter activity|vitamin transporter activity owl:Class HGNC:28956 biolink:NamedThing GPD1L tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001251 biolink:NamedThing negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. tmpak2llvmy_mondo_relaxed.owl negative regulation of chromosome organisation|negative regulation of chromosome organization and biogenesis|negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity owl:Class GO:2001025 biolink:NamedThing positive regulation of response to drug Any process that activates or increases the frequency, rate or extent of response to drug. tmpak2llvmy_mondo_relaxed.owl positive regulation of drug susceptibility/resistance|positive regulation of drug resistance owl:Class GO:2001023 biolink:NamedThing regulation of response to drug Any process that modulates the frequency, rate or extent of response to drug. tmpak2llvmy_mondo_relaxed.owl regulation of drug susceptibility/resistance|regulation of drug resistance owl:Class MONDO:0005077 biolink:NamedThing pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. tmpak2llvmy_mondo_relaxed.owl Bordetella pertussis infectious disease|WC - whooping cough|Bordetella pertussis disease or disorder|infection due to Bordetella pertussis|Bordetella pertussis infection|whooping cough|Bordetella infection|pertussis|Bordetella pertussis caused disease or disorder ICD10:A37.8|MedDRA:10034738|ICD10:A37.9|SCTID:27836007|UMLS:C0043167|ICD10:A37.0|ICD9:033.0|ICD9:033|ICD9:033.9|GARD:0008692|EFO:0000650|NCIT:C85231|ICD10:A37.1|KEGG:05133|DOID:1116|MESH:D014917|MedDRA:10047974|Orphanet:1489 https://rarediseases.info.nih.gov/diseases/8692/whooping-cough owl:Class MONDO:0006347 biolink:NamedThing pancreatic large cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma of pancreas|pancreatic large cell NEC|pancreatic large cell NEC G3|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma EFO:1000442|UMLS:C2987239|NCIT:C95582 owl:Class MONDO:0005192 biolink:NamedThing exocrine pancreatic carcinoma A carcinoma that arises from epithelial cells of the exocrine pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic carcinoma|cancer of pancreas|pancreas cancer|carcinoma of exocrine pancreas|pancreatic cancer (not islets)|carcinoma of the pancreas|pancreas carcinoma|cancer of the pancreas|exocrine pancreas carcinoma|carcinoma of pancreas|pancreatic cancer|exocrine cancer|pancreatic carcinoma, familial DOID:4905|UMLS:C0235974|NCIT:C3850|EFO:0002618|SCTID:372142002 owl:Class MONDO:0020528 biolink:NamedThing ACTH-dependent Cushing syndrome Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). tmpak2llvmy_mondo_relaxed.owl corticotropin-dependent Cushing syndrome|ACTH hypersecretion, pituitary|pituitary-dependent Cushing disease|pituitary Cushing diseases|pituitary Cushing syndrome|pituitary Cushing disease|overproduction of ACTH|adrenocorticotropic hormone-dependent Cushing syndrome|adrenocorticotropic hormone, inappropriate secretion|ACTH-dependent CS|pituitary-dependent Cushing's disease EFO:1001110|Orphanet:99892|DOID:3946|MESH:D047748|SCTID:237734007|SCTID:190502001|UMLS:C0342442|MedDRA:10035109|ICD10:E24.0 owl:Class MONDO:0018912 biolink:NamedThing Cushing syndrome Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. tmpak2llvmy_mondo_relaxed.owl nodular primary adrenocortical dysplasia|suprarenogenic syndrome|Cushing's syndrome|hyperadrenocorticism|pituitary basophilism|hypercortisolism|ectopic adrenocorticotropic hormone syndrome|adrenal hyperfunction resulting from pituitary ACTH excess|cortisol Excess|Cushing syndrome ICD10:E24.0|NCIT:C2969|GARD:0006224|ICD10:E24.8|UMLS:C0010481|ICD9:255.0|MESH:D003480|ICD10:E24.2|Orphanet:553|ICD10:E24|MedDRA:10020562|MedDRA:10011652|ICD10:E24.3|ICD10:E24.9|MedDRA:10020610|ICD10:E24.1|EFO:0003099|ICD10:E24.4|MedDRA:10020564 Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form owl:Class MONDO:0004352 biolink:NamedThing adult brain ependymoma An ependymoma of the brain occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult brain ependymoma|brain ependymoma DOID:7750|UMLS:C1332186|NCIT:C9372 owl:Class MONDO:0004245 biolink:NamedThing ependymal tumor of brain A tumor arising from the ependymal lining of the ventricles. tmpak2llvmy_mondo_relaxed.owl ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma UMLS:C0238029|SCTID:254939008|NCIT:C3861|DOID:7497 owl:Class MONDO:0043475 biolink:NamedThing Adams-Stokes syndrome An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. tmpak2llvmy_mondo_relaxed.owl syndrome, Stokes-Adams|Adam-Stokes attacks|syndrome, Adams-Stokes|Stokes-Adams syndrome|Stokes-Adams-morgagni syndrome|Adams Stokes syndrome|Stokes Adams attacks|Stokes-Adams attacks|Adam Stokes attacks|attacks, Stokes-Adams|attacks, Adam-Stokes|Stokes Adams syndrome EFO:1001259|SCTID:46935006|NCIT:C79765|MESH:D000219|UMLS:C0001396 owl:Class MONDO:0008848 biolink:NamedThing atrioventricular dissociation Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. tmpak2llvmy_mondo_relaxed.owl A-V dissociation|atrioventricular dissociation|atrioventricular dissociation (disease) atrioventricular dissociation (disease) ICD9:426.89|OMIM:209600|SCTID:50799005|HP:0011709|MESH:D006327 owl:Class GO:0006497 biolink:NamedThing protein lipidation The covalent attachment of lipid groups to an amino acid in a protein. tmpak2llvmy_mondo_relaxed.owl protein amino acid lipidation|lipid:protein modification owl:Class GO:0006464 biolink:NamedThing cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpak2llvmy_mondo_relaxed.owl protein modification process|protein tagging activity|process resulting in protein modification owl:Class MONDO:0008896 biolink:NamedThing campomelia, Cumming type Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. tmpak2llvmy_mondo_relaxed.owl Cumming syndrome|cervical lymphocele with bowed long bones|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys|campomelia Cumming type|campomelia, Cumming type MESH:C537966|GARD:0001061|UMLS:C1859371|Orphanet:1318|SCTID:720599002|OMIM:211890|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type owl:Class MONDO:0021518 biolink:NamedThing benign neoplasm of hard palate A benign neoplasm that involves the hard palate. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the hard palate|benign tumor of hard palate|hard palate benign neoplasm|benign hard palate tumor|benign hard palate neoplasm|benign tumor of the hard palate SCTID:92129006|NCIT:C4403|ICD9:210.4|UMLS:C0345552 owl:Class MONDO:0021445 biolink:NamedThing benign neoplasm of oral cavity A benign neoplasm that involves the oral cavity. tmpak2llvmy_mondo_relaxed.owl benign tumor of oral cavity|benign tumor of the mouth|benign neoplasm of the oral cavity|benign oral cavity neoplasm|benign oral cavity tumor|benign tumor of the oral cavity|oral cavity benign neoplasm|benign tumor of mouth|benign neoplasm of the mouth|benign mouth tumor|benign mouth neoplasm|benign neoplasm of mouth UMLS:C0347197|NCIT:C7607|SCTID:419645003|ICD9:210.4 owl:Class MONDO:0014472 biolink:NamedThing periodic fever-infantile enterocolitis-autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl NLRC4-related MAS|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related autoinflammatory syndrome with MAS|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|AIFEC|autoinflammation with infantile enterocolitis|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|NLRC4-related macrophage activation syndrome ICD10:E85.0|UMLS:C4015067|Orphanet:436166|OMIM:616050 owl:Class MONDO:0015622 biolink:NamedThing wound myiasis tmpak2llvmy_mondo_relaxed.owl traumatic myiasis Orphanet:165955|UMLS:C0344061|SCTID:240880004|ICD9:998.89|ICD10:B87.1 owl:Class MONDO:0020568 biolink:NamedThing cutaneous myiasis tmpak2llvmy_mondo_relaxed.owl ICD10:B87.0|UMLS:C0027031|Orphanet:99983|SCTID:240877000 owl:Class MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. tmpak2llvmy_mondo_relaxed.owl disease of nervous system|neurological disorder|disease or disorder of nervous system|neurologic disease|neurological disease|neurologic disorder|nervous system disorder|nervous system disease|disorder of nervous system|nervous system disease or disorder ICD10:G00-G99|ICD10:G00.G99|ICD10:G98|DOID:863|NCIT:C26835|Wikipedia:Nervous_system_disease|SCTID:118940003|EFO:0000618|MESH:D009422|ICD10:G98.8|UMLS:C0027765|ICD9:349.9|ICD9:349.89 owl:Class HGNC:177 biolink:NamedThing ACY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008291 biolink:NamedThing porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. tmpak2llvmy_mondo_relaxed.owl porokeratosis 2, palmar, plantar, and disseminated type|porokeratosis palmaris Et plantaris disseminata|porokeratosis plantaris palmaris et disseminata|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis, palmar, plantar, and disseminated|POROK2|palmar, plantar and disseminated porokeratosis Orphanet:737|OMIM:175850|ICD10:Q82.8|SCTID:718218005 owl:Class MONDO:0016518 biolink:NamedThing isolated punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated punctate PPK|isolated punctate palmoplantar hyperkeratosis|nonsyndromic punctate palmoplantar keratoderma ICD10:Q82.8|Orphanet:2338 owl:Class MONDO:0015496 biolink:NamedThing macroglossia The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) tmpak2llvmy_mondo_relaxed.owl enlarged tongue|giant tongue Orphanet:156207|MESH:D008260|MedDRA:10025391|UMLS:C0024421|ICD10:Q38.2|GARD:0003342 owl:Class MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. tmpak2llvmy_mondo_relaxed.owl disorder of embryonic morphogenesis|rare developmental defect during embryogenesis|malformation syndrome|congenital malformation syndrome|developmental defect during embryogenesis|embryonic morphogenesis disease ICD9:759.7|UMLS:C1302790|SCTID:400038003|NCIT:C99267|Orphanet:93890|UMLS:CN206687 owl:Class MONDO:0060582 biolink:NamedThing auditory neuropathy-optic atrophy syndrome tmpak2llvmy_mondo_relaxed.owl ANOA|auditory neuropathy and optic atrophy Orphanet:542585|OMIM:617717|UMLS:C4521678 owl:Class MONDO:0005814 biolink:NamedThing intestinal cancer A malignant neoplasm involving the intestine tmpak2llvmy_mondo_relaxed.owl intestinal tumors, malignant|intestine cancer|malignant intestine tumor|malignant intestinal tumor|malignant neoplasm of intestine|malignant intestinal tumors|intestinal cancer|malignant tumor of intestine|malignant intestine neoplasm|bowel cancer|malignant intestinal neoplasm|malignant tumor of the intestine|malignant neoplasm of the intestine|cancer of intestine|malignant intestinal neoplasms|cancer of the intestine|intestinal neoplasms, malignant SCTID:363508008|ICD10:C26.0|UMLS:C0346627|ICD9:159.0|NCIT:C4572|MESH:D007414|EFO:0007330|DOID:10155 owl:Class MONDO:0021118 biolink:NamedThing intestinal neoplasm A benign or malignant neoplasm involving the small or large intestine. tmpak2llvmy_mondo_relaxed.owl neoplasm of intestinal tract|intestinal benign neoplasm|neoplasm of intestines|intestine neoplasm (disease)|intestine neoplasm|intestine growth|intestinal neoplasms|neoplasm of intestine|intestinal tumors|tumor of intestines|intestinal tumor|neoplasm of the intestines|tumor of intestine|intestinal neoplasm|intestine tumor|bowel neoplasm|tumor of the intestines NCIT:C3141|DOID:4610|ONCOTREE:BOWEL|SCTID:126769007 owl:Class CL:0002637 biolink:NamedThing keratinized epithelial cell of the anal canal An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-07-08T02:08:40Z cell owl:Class CL:0009066 biolink:NamedThing stratified squamous epithelial cell of anal canal A stratified squamous epithelial cell that is part of the anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal stratified squamous epithelial cell owl:Class MONDO:0008138 biolink:NamedThing syndromic orbital border hypoplasia Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. tmpak2llvmy_mondo_relaxed.owl Urrets-Zavalia syndrome|orbital margin, hypoplasia OF Orphanet:98606|SCTID:717337001|OMIM:165600|MESH:C563490|UMLS:C1833795|UMLS:C4273912 owl:Class MONDO:0020195 biolink:NamedThing excretory apparatus of the lacrimal system anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98605 owl:Class GO:0030731 biolink:NamedThing guanidinoacetate N-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+). tmpak2llvmy_mondo_relaxed.owl methionine-guanidinoacetic transmethylase activity|guanidinoacetate transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity|guanidoacetate methyltransferase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity owl:Class GO:0008757 biolink:NamedThing S-adenosylmethionine-dependent methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. tmpak2llvmy_mondo_relaxed.owl S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity owl:Class MONDO:0002222 biolink:NamedThing urethra leiomyoma A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of urethra|urethra leiomyoma|urethral leiomyoma|leiomyoma of the urethra DOID:2142|UMLS:C1336888|NCIT:C6171 owl:Class MONDO:0004177 biolink:NamedThing benign urethral neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl benign urethral neoplasm|benign urethra neoplasm|benign neoplasm of the urethra|neoplasm. urethra|urethra benign neoplasm|benign urethra tumor|benign neoplasm of urethra|urethral benign neoplasm|benign tumor of urethra|benign tumor of the urethra|benign urethral tumor DOID:730|SCTID:92466006|NCIT:C3619|ICD9:223.81 owl:Class MONDO:0024321 biolink:NamedThing disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of GPI anchor biosynthetic process. tmpak2llvmy_mondo_relaxed.owl disorder of GPI anchor biosynthetic process|glycosylphosphatidylinositol biosynthesis defect|GPI anchor biosynthetic process disease|GPIBD May be inborn or somatic owl:Class MONDO:0017745 biolink:NamedThing disorder of O-mannosylglycan synthesis tmpak2llvmy_mondo_relaxed.owl ICD10:E77.8|Orphanet:309469|UMLS:CN227192 owl:Class MONDO:0017741 biolink:NamedThing disorder of protein O-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl disorder of protein O-linked glycosylation|protein O-linked glycosylation disease Orphanet:309447|ICD10:E77.8|UMLS:CN227188 owl:Class MONDO:0018100 biolink:NamedThing familial primary hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. tmpak2llvmy_mondo_relaxed.owl hypomagnesemia|familial primary hypomagnesemia|HOMG|primary familial hypomagnesemia SCTID:80710001|ICD10:E83.4|Orphanet:34526|DOID:0060879|NCIT:C123263|GARD:0002906|OMIMPS:602014 owl:Class GO:1903303 biolink:NamedThing negative regulation of pyruvate kinase activity Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity. tmpak2llvmy_mondo_relaxed.owl downregulation of phosphoenol transphosphorylase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|downregulation of phosphoenolpyruvate kinase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of pyruvate kinase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenolpyruvate kinase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|negative regulation of phosphoenol transphosphorylase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of phosphoenol transphosphorylase activity|negative regulation of phosphoenolpyruvate kinase activity|down regulation of phosphoenol transphosphorylase activity|down regulation of phosphoenolpyruvate kinase activity|downregulation of pyruvate kinase activity|down-regulation of phosphoenolpyruvate kinase activity|down-regulation of pyruvate kinase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of pyruvate kinase activity owl:Class GO:0016765 biolink:NamedThing transferase activity, transferring alkyl or aryl (other than methyl) groups Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl transferase activity, transferring alkyl or aryl groups, other than methyl groups owl:Class GO:0016740 biolink:NamedThing transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic vascular anomaly Orphanet:211240 owl:Class MONDO:0021503 biolink:NamedThing benign neoplasm of gallbladder A benign neoplasm that involves the gall bladder. tmpak2llvmy_mondo_relaxed.owl benign gallbladder neoplasm|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of gallbladder|gallbladder benign tumor|gallbladder benign neoplasm|gall bladder benign neoplasm|benign tumor of the gallbladder UMLS:C0345912|NCIT:C4440|DOID:0080640|SCTID:92117002 owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. tmpak2llvmy_mondo_relaxed.owl Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failure|Cardiac failures|CHF MSH:D006333|UMLS:C0018802|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|UMLS:C0018801 HP:0006686 human_phenotype owl:Class MONDO:0002653 biolink:NamedThing Paget disease of the penis A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 tmpak2llvmy_mondo_relaxed.owl Paget's disease of the penis|penile adenocarcinoma|Paget disease of the penis|penis Paget disease|penis mammary Paget's disease|Paget's disease of penis|penis Paget's disease SCTID:398768004|NCIT:C27817|DOID:3448|UMLS:C0221286 owl:Class MONDO:0021165 biolink:NamedThing Paget disease A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. tmpak2llvmy_mondo_relaxed.owl Paget's cell neoplasm|Paget cell neoplasm|Paget disease|Paget's disease NCIT:C7073 owl:Class MONDO:0002021 biolink:NamedThing gingival disease A disease involving the gingiva. tmpak2llvmy_mondo_relaxed.owl disease or disorder of gingiva|gingiva disease|gingiva disease or disorder|disorder of gingiva|disease of gingiva MESH:D005882|UMLS:C0017563|DOID:1483|SCTID:18718003 owl:Class MONDO:0013337 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1C A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. tmpak2llvmy_mondo_relaxed.owl HSAN 1C|HSAN1C|neuropathy, hereditary sensory and autonomic, type IC|hereditary sensory and autonomic neuropathy type IC|neuropathy, hereditary sensory, type 1C|hereditary sensory and autonomic neuropathy type 1C|HSN 1C OMIM:613640|UMLS:C3150896|DOID:0070157 owl:Class MONDO:0018213 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. tmpak2llvmy_mondo_relaxed.owl hereditary sensory neuropathy type 1|hereditary sensory and autonomic neuropathy type I|neuropathy hereditary sensory radicular, autosomal dominant|HSAN 1|neuropathy hereditary sensory and autonomic type 1|HSN1|HSAN1 PMID:18348718|Orphanet:36386|GARD:6635|GARD:0006635|SCTID:397734008|ICD10:G60.8|DOID:0070162 owl:Class GO:0006859 biolink:NamedThing extracellular carbohydrate transport The directed extracellular movement of carbohydrates. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006858 biolink:NamedThing extracellular transport The transport of substances that occurs outside cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000299 biolink:NamedThing thelaziasis A disease caused by infection with Thelazia. tmpak2llvmy_mondo_relaxed.owl Thelazia disease or disorder|Thelazia caused disease or disorder|thelaziasis|thelaziosis|infection by Thelazia|Thelazia infectious disease|verminous ophthalmia|infection caused by Thelazia|conjunctival spirurosis ICD9:128.8|SCTID:46477004|DOID:0050261|UMLS:C0344058 owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022737 This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z human_phenotype owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormality of nervous system physiology UMLS:C4022811 peter 2014-01-19T08:02:46Z human_phenotype owl:Class MONDO:0015586 biolink:NamedThing benign familial mesial temporal lobe epilepsy Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. tmpak2llvmy_mondo_relaxed.owl benign FMTLE Orphanet:163717|UMLS:CN226709 owl:Class MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl epilepsy, partial, familial|hereditary partial epilepsy ICD10:G40.1|GARD:0002173|UMLS:CN227178|Orphanet:309 https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial owl:Class MONDO:0021508 biolink:NamedThing benign neoplasm of epicardium A benign neoplasm that involves the epicardium. tmpak2llvmy_mondo_relaxed.owl benign epicardial neoplasm|benign tumor of epicardium|benign tumor of the epicardium|benign neoplasm of the epicardium|epicardium benign neoplasm|benign epicardial tumor UMLS:C0685115|NCIT:C8535|SCTID:92087008 owl:Class UBERON:0016512 biolink:NamedThing lumen of duodenum A anatomical space that is part of a duodenum. tmpak2llvmy_mondo_relaxed.owl doudenal lumen|duodenal lumen owl:Class CL:0000809 biolink:NamedThing double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. tmpak2llvmy_mondo_relaxed.owl DP thymocyte|late cortical thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell Thymocytes of this stage are undergoing positive and negative selection. cell owl:Class CL:0000893 biolink:NamedThing thymocyte An immature T cell located in the thymus. tmpak2llvmy_mondo_relaxed.owl immature T-lymphocyte|immature T-cell|immature T cell|immature T lymphocyte|thymic lymphocyte FMA:72202|BTO:0001372|CALOHA:TS-1042|XAO:0003159 cell owl:Class MONDO:0060768 biolink:NamedThing gingival fibroepithelial polyp A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. tmpak2llvmy_mondo_relaxed.owl fibroepithelial polyp of the gingiva|fibroepithelial polyp of gum|fibroepithelial polyp of the gum|gum fibroepithelial polyp|gingival fibroepithelial polyp|fibroepithelial polyp of gingiva SCTID:235001002|NCIT:C4693|UMLS:C0399441 owl:Class MONDO:0060765 biolink:NamedThing fibroepithelial polyp A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. tmpak2llvmy_mondo_relaxed.owl fibropapilloma, benign|fibroepithelial polyp NCIT:C3337 owl:Class MONDO:0007893 biolink:NamedThing Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. tmpak2llvmy_mondo_relaxed.owl lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|generalized lentiginosis|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome|Gorlin syndrome II|LEOPARD syndrome|familial multiple lentigines syndrome|Cardiomyopathic lentiginosis|progressive cardiomyopathic lentiginosis|Noonan syndrome with multiple lentigines|Moynahan syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|lentiginosis profusa syndrome ICD9:709.09|MedDRA:10062901|DOID:14291|UMLS:CN074218|OMIMPS:151100|ICD10:Q87.1|GARD:0001100|SCTID:111306001|MESH:D044542|UMLS:C0175704|Orphanet:500|NCIT:C84820 owl:Class SO:0001254 biolink:NamedThing polyploid A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number. tmpak2llvmy_mondo_relaxed.owl owl:Class SO:1000182 biolink:NamedThing chromosome_number_variation A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpak2llvmy_mondo_relaxed.owl Jannovar:chromosome_number_variation|chromosome number variation owl:Class MONDO:0003159 biolink:NamedThing vascular hemostatic disease Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. tmpak2llvmy_mondo_relaxed.owl disorders, vascular hemostatic|vascular hemostatic disorders|hemostatic disorders, vascular|disorder, vascular hemostatic|hemostatic disorder|hemostatic disorder, vascular|vascular hemostatic disorder SCTID:21112004|MESH:D020141|UMLS:C0600502|DOID:484 owl:Class MONDO:0002243 biolink:NamedThing hemorrhagic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). tmpak2llvmy_mondo_relaxed.owl bleeding diathesis|bleeding predisposition|hemorrhagic disease|bleeding disorder|bleeding tendency|hemorrhagic diathesis ICD9:287.9|NCIT:C115221|MESH:D006474|ICD10:D69.9|DOID:2213 owl:Class HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. tmpak2llvmy_mondo_relaxed.owl Abnormality of transition element cation homeostasis UMLS:C4023584 peter 2011-03-04T07:59:31Z human_phenotype owl:Class MONDO:0015257 biolink:NamedThing sino-auricular heart block tmpak2llvmy_mondo_relaxed.owl Orphanet:1260|ICD10:I45.5|UMLS:CN199152 owl:Class MONDO:0015110 biolink:NamedThing genetic cardiac rhythm disease An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic cardiac rhythm disease Orphanet:101934|UMLS:CN197467 owl:Class MONDO:0018582 biolink:NamedThing GCGR-related hyperglucagonemia tmpak2llvmy_mondo_relaxed.owl Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor|Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor UMLS:CN237611|GARD:0010460|ICD10:E16.3|Orphanet:438274 owl:Class MONDO:0021040 biolink:NamedThing pancreatic neoplasm A benign or malignant neoplasm involving the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas neoplasm|pancreas tumor|pancreas|pancreatic neoplasm|tumor of pancreas|pancreas neoplasm (disease)|pancreatic tumor|neoplasm of pancreas|neoplasm of the pancreas|tumor of the pancreas EFO:0003860|MESH:D010190|ONCOTREE:PANCREAS|NCIT:C3305|SCTID:126859007 owl:Class NCBITaxon:2697049 biolink:NamedThing Severe acute respiratory syndrome coronavirus 2 tmpak2llvmy_mondo_relaxed.owl SARS-CoV2|COVID19|SARS-CoV-2|2019-nCoV|SARS-2|SARS2|COVID-19 virus|COVID-19|Wuhan coronavirus|Human coronavirus 2019|HCoV-19 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694009 biolink:NamedThing Severe acute respiratory syndrome-related coronavirus tmpak2llvmy_mondo_relaxed.owl SARS-related coronavirus|HCoV-SARS|Human coronavirus (strain SARS)|SARSrCoV|SARS|Severe acute respiratory syndrome coronavirus|SARS virus|SARS-like coronavirus|SARS coronavirus|SARSr-CoV GC_ID:1 NCBITaxon:311178|NCBITaxon:227859 ncbi_taxonomy owl:Class CHEBI:33424 biolink:NamedThing sulfur oxoacid derivative tmpak2llvmy_mondo_relaxed.owl sulfur oxoacid derivatives|sulfur oxoacid derivative owl:Class CHEBI:26835 biolink:NamedThing sulfur molecular entity tmpak2llvmy_mondo_relaxed.owl sulfur molecular entities|sulfur molecular entity owl:Class MONDO:0007726 biolink:NamedThing hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. tmpak2llvmy_mondo_relaxed.owl BHD|Beukes hip dysplasia|Cilliers-Beighton syndrome|osteoarthropathy, premature degenerative, of hip|Beukes familial hip dysplasia|BFHD|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip|hip dysplasia Beukes type ICD10:Q65.8|SCTID:721148005|OMIM:142669|GARD:0002690|Orphanet:2114|MESH:C564185|DOID:0111367 owl:Class MONDO:0019692 biolink:NamedThing multiple epiphyseal dysplasia and pseudoachondroplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.8|Orphanet:93429 owl:Class MONDO:0013327 biolink:NamedThing primary hyperoxaluria type 3 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. tmpak2llvmy_mondo_relaxed.owl PH III|HOGA1 primary hyperoxaluria|primary hyperoxaluria type III|hyperoxaluria, primary, type III|primary hyperoxaluria caused by mutation in HOGA1|HP3|hyperoxaluria, primary, type 3 DOID:0111672|Orphanet:93600|NCIT:C123214|GARD:0010738|OMIM:613616|SCTID:734990008|ICD10:E74.8|UMLS:C3150878 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 owl:Class MONDO:0017806 biolink:NamedThing 15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.3|UMLS:CN203769|Orphanet:314585 owl:Class MONDO:0016965 biolink:NamedThing partial duplication of the long arm of chromosome 15 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 15q duplication|15q trisomy|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15|partial duplication of chromosome 15q|partial trisomy of chromosome 15q|partial trisomy 15q|15q duplication|trisomy 15q|Duplication 15q UMLS:C0795858|MESH:C538040|Orphanet:262950|GARD:0005314 owl:Class MONDO:0006421 biolink:NamedThing small intestinal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl NCIT:C43552|UMLS:C1710112|EFO:1000538 owl:Class MONDO:0021303 biolink:NamedThing adenoma of small intestine A adenoma that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl adenoma of the small intestine|small intestine adenoma|small bowel adenoma|adenoma of small bowel|adenoma of the small bowel|small intestinal adenoma NCIT:C5340|UMLS:C1302392|SCTID:399422005 owl:Class MONDO:0013204 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 4 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. tmpak2llvmy_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in SLC4A11|corneal dystrophy, Fuchs endothelial, type 4|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 4|FECD4|SLC4A11 Fuchs' endothelial dystrophy OMIM:613268|UMLS:C2750450 owl:Class MONDO:0005321 biolink:NamedThing Fuchs' endothelial dystrophy Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. tmpak2llvmy_mondo_relaxed.owl FECD|Endoepithelial corneal dystrophy|Fuchs endothelial dystrophy|late hereditary endothelial dystrophy|Fuchs endothelial corneal dystrophy|Fuchs' endothelial corneal dystrophy|FCED|Fuchs' corneal dystrophy|corneal dystrophy, Fuchs endothelial SCTID:193839007|ICD10:H18.5|NCIT:C84721|OMIMPS:136800|ICD10:H18.51|UMLS:C0016781|DOID:11555|MESH:D005642|Orphanet:98974|EFO:0003946|UMLS:CN207231 owl:Class OBO:CHR_9606-chr4 biolink:NamedThing chr4 (Human) tmpak2llvmy_mondo_relaxed.owl 190214555 0 hg38 owl:Class GO:0005694 biolink:NamedThing chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpak2llvmy_mondo_relaxed.owl prophase chromosome|chromatid|interphase chromosome owl:Class UBERON:0000016 biolink:NamedThing endocrine pancreas The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. tmpak2llvmy_mondo_relaxed.owl islets of Langerhans part of pancreas|endocrine part of pancreas|pars endocrina pancreatis|endocrine pancreas owl:Class HGNC:19042 biolink:NamedThing MASTL tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000013 biolink:NamedThing fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:18:16Z cell owl:Class CL:0002620 biolink:NamedThing skin fibroblast A fibroblast of skin. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0935|BTO:0001255 tmeehan 2011-03-14T12:31:49Z cell owl:Class UBERON:0001351 biolink:NamedThing lacrimal sac The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue. tmpak2llvmy_mondo_relaxed.owl lacrymal sac|saccus lacrimalis|lachrymal sac owl:Class UBERON:0004220 biolink:NamedThing large intestine smooth muscle A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine involuntary muscle|involuntary muscle of large intestine|non-striated muscle of large intestine|smooth muscle of large intestine|large intestine smooth muscle tissue|large intestine non-striated muscle|smooth muscle tissue of large intestine owl:Class UBERON:0004221 biolink:NamedThing intestine smooth muscle A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of bowel|smooth muscle tissue of bowel|non-striated muscle of bowel|involuntary muscle of intestine|intestinal smooth muscle|smooth muscle tissue of intestine|bowel smooth muscle tissue|bowel non-striated muscle|intestine smooth muscle tissue|smooth muscle of intestine|intestinal muscularis|non-striated muscle of intestine|bowel smooth muscle|intestine involuntary muscle|intestine non-striated muscle|smooth muscle of bowel|bowel involuntary muscle owl:Class MONDO:0010375 biolink:NamedThing developmental and epileptic encephalopathy, 8 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 8|early infantile epileptic encephalopathy 8|epileptic encephalopathy, early infantile, type 8|DEE8|EIEE8|hyperekplexia and epilepsy|hyperekplexia-epilepsy syndrome OMIM:300607|DOID:0080215|UMLS:C1845102|MESH:C564474|Orphanet:163985|ICD10:G25.8 owl:Class MONDO:0015920 biolink:NamedThing syndromic neurometabolic disease with X-linked intellectual disability tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:182076|UMLS:CN200518 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class HGNC:13429 biolink:NamedThing RLIM tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11528 biolink:NamedThing TACR3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014034 biolink:NamedThing severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 18|autosomal dominant mental retardation 18|autosomal dominant non-syndromic intellectual disability 18|GATAD2B-associated neurodevelopmental disorder|mental retardation, autosomal dominant 18|severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome|mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant 18|MRD18|autosomal dominant intellectual disability 18 ICD10:Q87.8|GARD:0012815|Orphanet:363686|DOID:0070048|UMLS:C3554448|OMIM:615074 owl:Class MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpak2llvmy_mondo_relaxed.owl septic arthritis|infectious arthritis|pyogenic arthritis ICD10:M00.9|MESH:D001170|ICD9:711.90|ICD9:711.91|ICD9:711.96|ICD9:711.97|ICD9:711.92|ICD9:711.0|ICD10:M00|DOID:813|SCTID:48245008|ICD9:711.40|ICD9:711.9|EFO:1001351|ICD9:711.95|ICD9:711.94|NCIT:C26699|ICD9:711.93 owl:Class UBERON:0015875 biolink:NamedThing heel The part of the foot that is the projection of the calcaneus. tmpak2llvmy_mondo_relaxed.owl regio calcanea|heel region|calcaneal region owl:Class MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. tmpak2llvmy_mondo_relaxed.owl trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3|tetrasomy 16p12.1-p12.3 Orphanet:485405 owl:Class MONDO:0016949 biolink:NamedThing partial duplication of the short arm of chromosome 16 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 16p duplication|16p trisomy|partial trisomy of the short arm of chromosome 16|partial duplication of chromosome 16p|partial trisomy 16p|partial trisomy of chromosome 16p|trisomy 16p|16p duplication|Duplication 16p|partial duplication of the short arm of chromosome type 16 Orphanet:262794|UMLS:C0795861|GARD:0005315 owl:Class MONDO:0019420 biolink:NamedThing X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:85322|UMLS:CN206176|SCTID:719011002 owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447|MSH:D004480 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. tmpak2llvmy_mondo_relaxed.owl Shortened limbs|Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs UMLS:C0239399 doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 human_phenotype owl:Class MONDO:0013764 biolink:NamedThing Joubert syndrome 16 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in TMEM138|Joubert syndrome 16|JBTS16|TMEM138 Joubert syndrome|Joubert syndrome type 16 OMIM:614465|DOID:0110985|UMLS:C3280906 owl:Class MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. tmpak2llvmy_mondo_relaxed.owl cerebellar vermis agenesis|Joubert-Boltshauser syndrome|Joubert syndrome type A|JBTS|classic Joubert syndrome|pure Joubert syndrome|Joubert syndrome|cerebelloparenchymal disorder IV|CPD IV Orphanet:475|NCIT:C74996|ICD10:Q04.3|SCTID:716997004|OMIMPS:213300|GARD:0006802|DOID:0050777 owl:Class HGNC:1242 biolink:NamedThing C1QB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7679 biolink:NamedThing NDRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000044 biolink:NamedThing marine pelagic feature A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000012 biolink:NamedThing hydrographic feature A geographical feature associated with water. tmpak2llvmy_mondo_relaxed.owl fluvial feature owl:Class MONDO:0007698 biolink:NamedThing hand-foot-genital syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. tmpak2llvmy_mondo_relaxed.owl HFGS|hand foot uterus syndrome|HFG syndrome|HFG|HFU syndrome|hand foot genital syndrome|hand-foot-genital syndrome|hand-foot-uterus syndrome Orphanet:2438|SCTID:702425002|GARD:0002594|DOID:0060739|MedDRA:10072361|ICD10:Q51.2|UMLS:C1841679|OMIM:140000|MESH:C535627|ICD9:759.89 owl:Class MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation Orphanet:180148|UMLS:CN226751 owl:Class UBERON:0000353 biolink:NamedThing parenchyma functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000064 biolink:NamedThing organ part A multicellular structure that is a part of an organ. tmpak2llvmy_mondo_relaxed.owl regional part of organ|cardinal organ part owl:Class MONDO:0032821 biolink:NamedThing myopathy, congenital, progressive, with scoliosis tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS|MYOSCO OMIM:618578 owl:Class MONDO:0011686 biolink:NamedThing DNA ligase IV deficiency LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). tmpak2llvmy_mondo_relaxed.owl LIG4 syndrome|ligase 4 syndrome|DNA ligase IV deficiency ICD10:D81.1|UMLS:C1847827|OMIM:606593|NCIT:C122657|DOID:0060021|MESH:C564694|SCTID:724177005|Orphanet:99812 owl:Class MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. tmpak2llvmy_mondo_relaxed.owl T-B- SCID ICD10:D81.1|Orphanet:317419 owl:Class MONDO:0014410 biolink:NamedThing spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. tmpak2llvmy_mondo_relaxed.owl SCA37|spinocerebellar ataxia with altered vertical eye movements|spinocerebellar ataxia 37 OMIM:615945|GARD:0012368|UMLS:C4304821|Orphanet:363710|SCTID:719301002|UMLS:C3889636|ICD10:G11.8|DOID:0050984 owl:Class MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. tmpak2llvmy_mondo_relaxed.owl cerebellar plus syndrome|autosomal dominant cerebellar ataxia type 1|ADCAI|ADCA1 ICD10:G11.8|UMLS:CN206744|Orphanet:94145 owl:Class MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpak2llvmy_mondo_relaxed.owl adenoma of the adrenal gland|adenoma of the adrenal cortex|cortical cell adenoma|adrenal incidentaloma|adenoma of adrenal gland|benign adenoma of adrenal gland|benign adrenal adenoma|benign adrenal gland adenoma|adenoma of adrenal cortex|adrenocortical adenoma|adrenal cortex adenoma|adenoma, adrenocortical, benign|benign adenoma of the adrenal gland|adrenal adenoma|adrenal gland adenoma|adrenal cortical adenoma SCTID:302826002|GARD:0005745|HP:0008196|DOID:656|ONCOTREE:ACA|ICDO:8370/0|NCIT:C9003|EFO:0003104|HP:0008256|DOID:0050891|MESH:D018246|Orphanet:463|UMLS:C0206667 MONDO:0005248 owl:Class MONDO:0036976 biolink:NamedThing benign epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl benign tumor of the epithelium|benign epithelial neoplasm|benign epithelial tumor|benign neoplasm of epithelium|benign epithelioma|benign tumor of epithelium|benign neoplasm of the epithelium|epithelial neoplasm, benign|epithelioma, benign NCIT:C4092|ICDO:8010/0|ICDO:8011/0|UMLS:C0334232 owl:Class MONDO:0004170 biolink:NamedThing nodular episcleritis tmpak2llvmy_mondo_relaxed.owl DOID:728|ICD9:379.02|SCTID:70558001|UMLS:C0155352|ICD10:H15.12 owl:Class MONDO:0001269 biolink:NamedThing scleral disease A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. tmpak2llvmy_mondo_relaxed.owl sclera disease or disorder|scleral disorder|sclera disease|sclera disorder|disorder of sclera|disease of sclera|disease or disorder of sclera NCIT:C79717|UMLS:C0036412|SCTID:33064008|ICD9:379.19|DOID:11343|MESH:D015422|ICD10:H15.9|ICD10:H15 owl:Class MONDO:0020048 biolink:NamedThing internal carotid agenesis Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. tmpak2llvmy_mondo_relaxed.owl agenesis of the internal carotid artery|internal carotid artery agenesis GARD:0003012|Orphanet:981|ICD10:Q28.1|SCTID:722004001 https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis owl:Class MONDO:0015145 biolink:NamedThing neurovascular malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:102006 owl:Class MONDO:0019488 biolink:NamedThing myoclonic epilepsy in non-progressive encephalopathies A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. tmpak2llvmy_mondo_relaxed.owl myoclonus epilepsy in non-progressive encephalopathies|myoclonic status in non-progressive encephalopathies ICD10:G40.4|Orphanet:86913 owl:Class MONDO:0020071 biolink:NamedThing infantile epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. tmpak2llvmy_mondo_relaxed.owl epilepsy syndrome of infancy|infantile epilepsy syndrome|infantile onset epilepsy syndrome Orphanet:98258|UMLS:CN206975|ICD10:G40.4 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class HGNC:16192 biolink:NamedThing SLC17A9 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042476 biolink:NamedThing odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpak2llvmy_mondo_relaxed.owl odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontosis|tooth development|odontogeny owl:Class GO:0009887 biolink:NamedThing animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpak2llvmy_mondo_relaxed.owl histogenesis and organogenesis owl:Class HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). tmpak2llvmy_mondo_relaxed.owl Abnormality of eyeball size|Eye size difference UMLS:C4021945 doelkens 2011-12-13T04:25:29Z HP:0010725 human_phenotype owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. tmpak2llvmy_mondo_relaxed.owl Abnormality of the globe|Abnormally shaped eye|Abnormal eye structure Fyler:4863|UMLS:C4022925 previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0012374|HP:0000489 human_phenotype owl:Class MONDO:0018083 biolink:NamedThing transient tyrosinemia of the newborn Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. tmpak2llvmy_mondo_relaxed.owl transient neonatal tyrosinemia|transient tyrosinemia of the neonate|tyrosine-oxidase temporary deficiency Orphanet:3402|ICD10:P74.5|UMLS:CN204402|GARD:0005388 owl:Class MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism tmpak2llvmy_mondo_relaxed.owl ICD10:E70.2|SCTID:37200009|Orphanet:284818|UMLS:CN202881|ICD9:270.2 owl:Class UBERON:0005760 biolink:NamedThing urorectal septum The ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body[MP]. tmpak2llvmy_mondo_relaxed.owl urorectal fold|septum urorectale|urorectal membrane|cloacal septum owl:Class UBERON:0003037 biolink:NamedThing septum A wall, dividing a cavity or structure into smaller ones[WP]. tmpak2llvmy_mondo_relaxed.owl septa owl:Class CL:0000823 biolink:NamedThing immature natural killer cell A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR). tmpak2llvmy_mondo_relaxed.owl immature NK cell|p-NK In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. cell owl:Class CL:0001082 biolink:NamedThing immature innate lymphoid cell An innate lyphoid cell with an immature phenotype. tmpak2llvmy_mondo_relaxed.owl immature ILC owl:Class NCBITaxon:431838 biolink:NamedThing Intramacronucleata tmpak2llvmy_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:5878 biolink:NamedThing Ciliophora tmpak2llvmy_mondo_relaxed.owl ciliates|Ciliata GC_ID:6 ncbi_taxonomy owl:Class MONDO:0021026 biolink:NamedThing genetic epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic epidermal appendage anomaly Orphanet:183447 owl:Class MONDO:0014605 biolink:NamedThing microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant type 36|mental retardation, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|autosomal dominant mental retardation 36|intellectual disability, autosomal dominant 36|MRD36 OMIM:616362|Orphanet:457284|DOID:0070066 owl:Class MONDO:0003087 biolink:NamedThing mucoepidermoid breast carcinoma A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of breast|breast mucoepidermoid carcinoma|mucoepidermoid breast carcinoma|mucoepidermoid carcinoma of the breast UMLS:C1334813|NCIT:C5166|DOID:4679 owl:Class MONDO:0006256 biolink:NamedThing invasive breast carcinoma A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. tmpak2llvmy_mondo_relaxed.owl invasive carcinoma of the breast|infiltrating breast cancer|infiltrating breast carcinoma|invasive breast carcinoma|invasive carcinoma of breast|invasive breast cancer|invasive mammary carcinoma|infiltrating carcinoma of breast|BRCA|infiltrating carcinoma of the breast EFO:1000307|ONCOTREE:BRCA|UMLS:C0853879|NCIT:C9245|SCTID:713609000 owl:Class MONDO:0006576 biolink:NamedThing Ludwig's angina Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl cellulitis (disease) of mouth floor|Ludwig angina|cellulitis of floor of mouth|mouth floor cellulitis (disease) UMLS:C3247204|ICD9:528.3|EFO:1000730|UMLS:C0024081|SCTID:196542004|MESH:D008158|Wikipedia:Ludwig's_angina|DOID:4558 owl:Class MONDO:0006858 biolink:NamedThing mouth disease A disease involving the mouth. tmpak2llvmy_mondo_relaxed.owl oral disease|disease of mouth|disorder of mouth|mouth disease|mouth disease or disorder|disease or disorder of mouth|oral disorder MESH:D009059|SCTID:118938008|NCIT:C3240|ICD9:528.9|EFO:1001047|DOID:403|UMLS:C0026636 owl:Class MONDO:0010672 biolink:NamedThing linear skin defects with multiple congenital anomalies A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. tmpak2llvmy_mondo_relaxed.owl linear skin defects with multiple congenital anomalies 1|linear skin defects with multiple congenital anomalies|MCOPS7|microphthalmia dermal aplasia and sclerocornea syndrome|MIDAS syndrome|microphthalmia-dermal aplasia-sclerocornea syndrome|syndromic microphthalmia type 7|linear skin defects with multiple congenital anomalies type 1|MLS syndrome|microphthalmia with linear skin defects syndrome|LSDMCA1|Micropthalmia syndromic 7 Orphanet:2556|SCTID:721879006|MESH:C537466|GARD:0003659|ICD10:Q11.2|OMIMPS:309801 Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome owl:Class MONDO:0017811 biolink:NamedThing severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion tmpak2llvmy_mondo_relaxed.owl Del(5)(q31.3)|5q31.3 microdeletion syndrome|monosomy 5q31.3 UMLS:CN203780|Orphanet:314655|SCTID:768555009|ICD10:Q93.5 owl:Class MONDO:0032809 biolink:NamedThing hepatitis, fulminant viral, susceptibility to tmpak2llvmy_mondo_relaxed.owl HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO|FVH OMIM:618549 owl:Class UBERON:0002387 biolink:NamedThing pes distal portion of the hind limb, including tarsal region, metatarsal region and digits. tmpak2llvmy_mondo_relaxed.owl hindlimb distal free limb segment|hindfoot|hindlimb autopod|hind-paw|hindlimb autopodium|pes|hind foot|hindpaw|foot|terminal segment of free lower limb|hind paw|hindfeet|hindfoot of quadruped|hind limb autopodium owl:Class UBERON:0008784 biolink:NamedThing lower limb segment A limb segment that is part of a hindlimb. tmpak2llvmy_mondo_relaxed.owl subdivision of free lower limb|segment of free lower limb|free lower limb subdivision|free lower limb segment owl:Class NCBITaxon:72273 biolink:NamedThing Thiotrichales tmpak2llvmy_mondo_relaxed.owl Thiomicrospira group|Thiothrix/Francisella group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1236 biolink:NamedThing Gammaproteobacteria tmpak2llvmy_mondo_relaxed.owl Proteobacteria gamma subdivision|gamma proteobacteria|gamma subgroup|Purple bacteria, gamma subdivision|g-proteobacteria|gamma subdivision PMID:23334881|PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class GO:1990542 biolink:NamedThing mitochondrial transmembrane transport The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006839 biolink:NamedThing mitochondrial transport Transport of substances into, out of or within a mitochondrion. tmpak2llvmy_mondo_relaxed.owl mitochondrial sodium/calcium ion exchange|mitochondrial alpha-ketoglutarate/malate transport|mitochondrial aspartate/glutamate transport owl:Class CL:0002306 biolink:NamedThing epithelial cell of proximal tubule An epithelial cell of the proximal tubule of the kidney. tmpak2llvmy_mondo_relaxed.owl kidney proximal tubule epithelial cell KUPO:0001044|FMA:70973|FMA:62125 cell owl:Class CL:1000615 biolink:NamedThing kidney cortex tubule cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001024 cell owl:Class MONDO:0005546 biolink:NamedThing fibromyalgia A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. tmpak2llvmy_mondo_relaxed.owl fibromyalgia|fibromyalgia syndrome ICD10:M79.1|SCTID:203082005|NCIT:C87497|GARD:0012069|MESH:D005356|DOID:631|EFO:0005687|ICD10:M79.7|UMLS:C0016053|ICD9:729.1 https://github.com/monarch-initiative/mondo/issues/3170 owl:Class MONDO:0024317 biolink:NamedThing chronic pain syndrome Chronic form of disorder involving pain. tmpak2llvmy_mondo_relaxed.owl chronic pain disease|disorder involving pain, chronic|chronic disorder involving pain ICD9:338.4|SCTID:373621006|UMLS:C1298685|ICD10:G89.4 owl:Class MONDO:0017609 biolink:NamedThing renal tubular dysgenesis Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl primitive renal tubule syndrome|renotubular dysgenesis GARD:0000379|SCTID:702397002|Orphanet:3033|ICD10:Q63.8 owl:Class MONDO:0019720 biolink:NamedThing non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic renal or urinary tract malformation|nonsyndromic congenital anomaly of kidney and urinary tract|isolated renal or urinary tract malformation|isolated congenital anomaly of kidney and urinary tract Orphanet:93546 owl:Class MONDO:0042717 biolink:NamedThing Saul-Wilkes-Stevenson syndrome tmpak2llvmy_mondo_relaxed.owl Saul Wilkes Stevenson syndrome UMLS:C2931266|MESH:C536617|GARD:0000161 owl:Class MONDO:0009635 biolink:NamedThing microvillus inclusion disease Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. tmpak2llvmy_mondo_relaxed.owl microvillous inclusion disease|microvillus inclusion disease|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|secretory diarrhea caused by mutation in MYO5B|Davidson's disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|congenital microvillous atrophy|congenital microvillus atrophy|MVD|familial enteropathy, microvillus|diarrhea 2, with microvillus atrophy|diarrhea 2 with microvillus atrophy|Davidson disease|MVID|microvillus atrophy, congenital|DIAR2|MYO5B secretory diarrhea|congenital familial protracted diarrhea|intractable diarrhea of infancy DOID:0060775|OMIM:251850|GARD:0007039|SCTID:235729009|Orphanet:2290|UMLS:C0341306|MedDRA:10068494|ICD10:P78.3|ICD9:579.8 owl:Class MONDO:0019126 biolink:NamedThing intractable diarrhea of infancy Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. tmpak2llvmy_mondo_relaxed.owl IDI Orphanet:73014 owl:Class MONDO:0020396 biolink:NamedThing anomaly of the tricuspid valve chordae Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:99055 owl:Class MONDO:0001608 biolink:NamedThing vagus nerve neoplasm A neoplasm involving a vagus nerve. tmpak2llvmy_mondo_relaxed.owl Xth cranial nerve tumors|Vagus nerve tumors|tenth cranial nerve neoplasm|tumor of the tenth cranial nerve|neoplasm of vagus nerve|Vagus nerve neoplasms|tumor of vagus nerve|Xth cranial nerve neoplasms|neoplasm of the tenth cranial nerve|tumor of the Vagus nerve|neoplasm of Vagus nerve|vagus nerve neoplasm (disease)|tenth cranial nerve neoplasms|Vagus nerve neoplasm|tumor of Vagus nerve|tenth cranial nerve tumor|neoplasm of the Vagus nerve|tenth cranial nerve tumors|neoplasm of tenth cranial nerve|vagus nerve tumor|tumor of tenth cranial nerve|Vagus nerve tumor DOID:12984|NCIT:C5831|UMLS:C1263901|SCTID:126976007|ICD9:239.7 owl:Class MONDO:0002638 biolink:NamedThing glossopharyngeal nerve neoplasm A neoplasm involving a glossopharyngeal nerve. tmpak2llvmy_mondo_relaxed.owl glossopharyngeal nerve neoplasm|glossopharyngeal nerve neoplasm (disease)|IXth cranial nerve tumors|Ninth cranial nerve neoplasm|glossopharyngeal nerve tumor|Ninth cranial nerve neoplasms|tumor of Ninth cranial nerve|neoplasm of the Ninth cranial nerve|tumor of glossopharyngeal nerve|Ninth cranial nerve tumors|IXth cranial nerve neoplasms|tumor of the glossopharyngeal nerve|neoplasm of the glossopharyngeal nerve|Ninth cranial nerve tumor|neoplasm of Ninth cranial nerve|glossopharyngeal nerve neoplasms|neoplasm of glossopharyngeal nerve|tumor of the Ninth cranial nerve|glossopharyngeal nerve tumors SCTID:126975006|UMLS:C1263900|NCIT:C5828|ICD9:239.7|DOID:3417 owl:Class MONDO:0014257 biolink:NamedThing nephrotic syndrome, type 9 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 9|COQ8B nephrotic syndrome|NPHS9|nephrotic syndrome caused by mutation in COQ8B DOID:0080391|OMIM:615573|UMLS:C3809965 owl:Class UBERON:0001487 biolink:NamedThing pes joint A skeletal joint that is part of a pes [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl articulationes pedis|pedal joint|joint of pes|joint of terminal segment of free lower limb|joints of foot|hind limb autopod joint|foot joint owl:Class UBERON:0003840 biolink:NamedThing hindlimb joint A limb joint that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl inferior member limb joint|joint of limb of hind limb|inferior member joint of limb|limb joint of inferior member|hindlimb joint of limb|joint of lower limb|lower extremity joint of limb|limb joint of lower extremity|joint of limb of inferior member|limb joint of hindlimb|hindlimb limb joint|joint of free lower limb|limb joint of hind limb|hind limb limb joint|joint of limb of lower extremity|lower extremity limb joint|hind limb joint of limb|joint of limb of hindlimb owl:Class MONDO:0010194 biolink:NamedThing Weill-Marchesani syndrome 1 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. tmpak2llvmy_mondo_relaxed.owl WMS1|ADAMTS10 Weill-Marchesani syndrome|Weill-Marchesani syndrome type 1|spherophakia-brachymorphia syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome caused by mutation in ADAMTS10|Weill-Marchesani syndrome 1|Weill-Marchesani syndrome, autosomal recessive OMIM:277600 owl:Class MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. tmpak2llvmy_mondo_relaxed.owl mesodermal Dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome|spherophakia brachymorphia syndrome|congenital mesodermal dystrophy|Marchesani-Weill syndrome|WMS|mesodermal dysmorphodystrophy congenital|WM syndrome MedDRA:10064963|MESH:D056846|OMIMPS:277600|SCTID:2884008|NCIT:C85226|ICD9:759.89|Orphanet:3449|DOID:0050475|UMLS:C0265313|GARD:0004936|ICD10:Q87.0 owl:Class UBERON:0035006 biolink:NamedThing preputial swelling of female tmpak2llvmy_mondo_relaxed.owl prepuce of female owl:Class UBERON:0035004 biolink:NamedThing preputial swelling tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:16716 biolink:NamedThing benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. tmpak2llvmy_mondo_relaxed.owl Phene|Benzene|cyclohexatriene|benzole|Benzine|BENZENE|benzene|Bicarburet of hydrogen|Pyrobenzol|Pyrobenzole|Mineral naphtha|Benzen|phenyl hydride|Benzol|Coal naphtha|[6]annulene owl:Class CHEBI:22712 biolink:NamedThing benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003047 biolink:NamedThing thymic large cell neuroendocrine carcinoma An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma of Thymus|thymus large cell neuroendocrine carcinoma|thymus large cell carcinoma|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC|large cell neuroendocrine carcinoma of thymus|Thymus large cell carcinoma|large cell carcinoma of the Thymus|thymic large cell neuroendocrine carcinoma DOID:4553|NCIT:C6461|UMLS:C1334364 owl:Class MONDO:0005057 biolink:NamedThing large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma|large-cell neuroendocrine carcinoma|LCNEC|large cell NEC NCIT:C6875|ONCOTREE:LUNE|EFO:0000563|ICDO:8013/3|UMLS:C1265996|DOID:0050872 owl:Class GO:0031338 biolink:NamedThing regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033043 biolink:NamedThing regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpak2llvmy_mondo_relaxed.owl regulation of organelle organization and biogenesis|regulation of organelle organisation owl:Class MONDO:0007376 biolink:NamedThing fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. tmpak2llvmy_mondo_relaxed.owl Francois-Neetens speckled corneal dystrophy|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK|FCD|Cfd|corneal dystrophy, Francois-Neetens speckled or flecked|fleck corneal dystrophy|François-Neetens speckled corneal dystrophy MESH:C563256|OMIM:121850|ICD9:371.56|UMLS:C1562113|ICD10:H18.5|SCTID:417183007|Orphanet:98970|DOID:0060448 owl:Class MONDO:0020213 biolink:NamedThing stromal corneal dystrophy The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy (disease) of substantia propria of cornea|substantia propria of cornea corneal dystrophy (disease)|corneal stromal dystrophy|stromal dystrophy Orphanet:98626|UMLS:C0038457|ICD9:371.56|DOID:0060442|ICD10:H18.5|SCTID:231931001 owl:Class MONDO:0014510 biolink:NamedThing fatty acyl-CoA reductase 1 deficiency tmpak2llvmy_mondo_relaxed.owl severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|rhizomelic chondrodysplasia punctata type 4|fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|fatty acyl-CoA reductase 1 disorder|fatty acyl-CoA reductase 1 deficiency|peroxisomal fatty acyl-CoA reductase 1 disorder|FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|PFCRD Orphanet:438178|ICD10:E71.3|UMLS:C4015344|OMIM:616154 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class ECTO:1000007 biolink:NamedThing exposure to high temperature environment A exposure event involving the interaction of an exposure receptor to high temperature environment. tmpak2llvmy_mondo_relaxed.owl high temperature environment exposure owl:Class MONDO:0011500 biolink:NamedThing Becker nevus syndrome Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. tmpak2llvmy_mondo_relaxed.owl Becker nevus syndrome|hairy epidermal nevus syndrome|pigmentary hairy epidermal nevus Orphanet:64755|UMLS:C1858042|MESH:C565735|OMIM:604919|GARD:0003856|ICD10:D22.5 https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome owl:Class MONDO:0015853 biolink:NamedThing deficient breast volume or number tmpak2llvmy_mondo_relaxed.owl Orphanet:180173 owl:Class UBERON:0016928 biolink:NamedThing metaphysis of fibula A metaphysis that is part of a fibula. tmpak2llvmy_mondo_relaxed.owl fibula metaphysis|fibular metaphysis owl:Class UBERON:0001438 biolink:NamedThing metaphysis Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA] tmpak2llvmy_mondo_relaxed.owl metaphyses|diaphyseal end of long bone|long bone metaphysis owl:Class HGNC:6944 biolink:NamedThing MCM2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902679 biolink:NamedThing negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA synthesis|negative regulation of RNA biosynthesis|downregulation of RNA formation|downregulation of RNA anabolism|down regulation of RNA synthesis|down regulation of RNA formation|negative regulation of RNA formation|down-regulation of RNA formation|down regulation of RNA biosynthetic process|inhibition of RNA biosynthesis|downregulation of RNA synthesis|downregulation of RNA biosynthesis|down-regulation of RNA synthesis|negative regulation of RNA anabolism|downregulation of RNA biosynthetic process|down-regulation of RNA anabolism|down-regulation of RNA biosynthesis|inhibition of RNA formation|inhibition of RNA biosynthetic process|down regulation of RNA anabolism|inhibition of RNA anabolism|down regulation of RNA biosynthesis|down-regulation of RNA biosynthetic process|negative regulation of RNA synthesis owl:Class GO:0051253 biolink:NamedThing negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpak2llvmy_mondo_relaxed.owl inhibition of RNA metabolic process|down-regulation of RNA metabolic process|negative regulation of RNA metabolism|downregulation of RNA metabolic process|down regulation of RNA metabolic process owl:Class MONDO:0010196 biolink:NamedThing Werner syndrome Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. tmpak2llvmy_mondo_relaxed.owl Werner syndrome|adult premature ageing syndrome|adult progeria|WS|Werner's syndrome|WRN Orphanet:902|MESH:D014898|GARD:0007885|MedDRA:10049429|SCTID:51626007|OMIM:277700|ICD9:259.8|DOID:5688|UMLS:C0043119|ICD10:E34.8|NCIT:C3447 owl:Class MONDO:0000608 biolink:NamedThing familial juvenile hyperuricemic nephropathy tmpak2llvmy_mondo_relaxed.owl juvenile gouty nephropathy|gouty nephropathy, familial|familial nephropathy with gout|familial nephropathy associated with hyperuricemia|juvenile gout|nephropathy, familial, with gout|familial juvenile gouty nephropathy|FJHN|familial juvenile hyperuricemic nephropathy|tubulointerstitial kidney disease|gouty nephropathy, familial juvenile UMLS:CN239392|SCTID:46785007|OMIMPS:162000|MESH:C537696|GARD:0000067|DOID:0060062 owl:Class UBERON:0001274 biolink:NamedThing ischium Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium. tmpak2llvmy_mondo_relaxed.owl ischium bone|ischial bone|os ischii owl:Class UBERON:0002513 biolink:NamedThing endochondral bone Replacement bone that forms within cartilage. tmpak2llvmy_mondo_relaxed.owl ossified chondrogenic bone|cartilaginous bone|endochondral bones owl:Class UBERON:0015751 biolink:NamedThing inferior tarsal muscle A smooth muscle tissue that is part of a inferior eyelid tarsus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003386 biolink:NamedThing smooth muscle of eye any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi tmpak2llvmy_mondo_relaxed.owl ocular smooth muscle owl:Class MONDO:0001440 biolink:NamedThing neurotrophic keratoconjunctivitis tmpak2llvmy_mondo_relaxed.owl SCTID:77080005|ICD9:370.35|DOID:12125|ICD10:H16.23|UMLS:C0155084 owl:Class MONDO:0004768 biolink:NamedThing keratoconjunctivitis Inflammation of both the cornea and the conjunctiva. tmpak2llvmy_mondo_relaxed.owl DOID:9368|SCTID:88151007|ICD9:370.40|MESH:D007637|NCIT:C34744|ICD10:H16.20|ICD9:370.49|ICD9:370.8|HP:0001096|ICD10:H16.2|UMLS:C0022573 owl:Class MONDO:0019487 biolink:NamedThing epilepsy with myoclonic absences tmpak2llvmy_mondo_relaxed.owl ICD10:G40.4|SCTID:230422001|Orphanet:86911 owl:Class MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. tmpak2llvmy_mondo_relaxed.owl movement disorders|movement disease|movement disorder ICD9:333.99|EFO:0004280|SCTID:60342002|MESH:D009069|ICD9:333.90|DOID:480|NCIT:C116757 owl:Class MONDO:0001731 biolink:NamedThing benign vaginal mixed epithelial and mesenchymal neoplasm A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. tmpak2llvmy_mondo_relaxed.owl benign vaginal mixed epithelial and mesenchymal neoplasm|benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal tumor NCIT:C40275|UMLS:C1511106|DOID:135 owl:Class MONDO:0000647 biolink:NamedThing benign vaginal neoplasm A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. tmpak2llvmy_mondo_relaxed.owl vaginal benign neoplasm|benign neoplasm of the vagina|benign tumor of the vagina|benign vaginal neoplasms|benign tumor of vagina|benign vaginal tumor|benign vaginal neoplasm|benign neoplasm of vagina|vagina female reproductive organ benign neoplasm|vagina benign neoplasm SCTID:92473001|UMLS:C0154002|ICD9:221.1|DOID:0060114|NCIT:C3610 owl:Class GO:0006837 biolink:NamedThing serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015850 biolink:NamedThing organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. tmpak2llvmy_mondo_relaxed.owl organic alcohol transport owl:Class MONDO:0007673 biolink:NamedThing Glucoglycinuria tmpak2llvmy_mondo_relaxed.owl Glucoglycinuria OMIM:138070|MESH:C562670|UMLS:C0268536 owl:Class UBERON:0010191 biolink:NamedThing aortic system tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011216 biolink:NamedThing organ system subdivision A subdivision of an anatomical system. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:119095 biolink:NamedThing Capillaria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:455381 biolink:NamedThing Capillariidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012720 biolink:NamedThing Krabbe disease, atypical, due to saposin A deficiency tmpak2llvmy_mondo_relaxed.owl Krabbe disease, atypical, due to saposin A deficiency|saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency GARD:0010289|UMLS:C2673266|OMIM:611722|MESH:C567097 https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency owl:Class CL:1001596 biolink:NamedThing salivary gland glandular cell Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts. tmpak2llvmy_mondo_relaxed.owl salivary gland glandular cells CALOHA:TS-1282 owl:Class ECTO:9001630 biolink:NamedThing exposure to endocrine disruptor An exposure to endocrine disruptor. tmpak2llvmy_mondo_relaxed.owl exposure to endocrine disruptor owl:Class MONDO:0008368 biolink:NamedThing autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. tmpak2llvmy_mondo_relaxed.owl autosomal dominant distal renal tubular acidosis (disease)|renal tubular acidosis, distal, autosomal dominant|distal renal tubular acidosis (disease), autosomal dominant|renal tubular acidosis 1|RTA, distal type, autosomal dominant|RTA, gradient type|AD dRTA|RTA, classic type|autosomal dominant SLC4A1-associated distal renal tubular acidosis ICD10:N25.8|OMIM:179800|Orphanet:93608|GARD:0004668 owl:Class MONDO:0015827 biolink:NamedThing distal renal tubular acidosis Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. tmpak2llvmy_mondo_relaxed.owl classic RTA|dRTA|renal tubular acidosis, distal|renal tubular acidosis type 1|distal renal tubular acidosis|familial distal primary acidosis|distal renal tubular acidosis (disease) distal renal tubular acidosis (disease) HP:0008341|OMIMPS:179800|GARD:0004667|Orphanet:18|ICD9:588.89|ICD10:N25.8|MedDRA:10045224|SCTID:236461000 owl:Class MONDO:0013011 biolink:NamedThing atrial septal defect 5 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ASD5|atrial septal defect type 5|ACTC1 atrial heart septal defect|atrial septal defect 5 UMLS:C2748552|ICD10:Q21.1|DOID:0110110|MESH:C567561|OMIM:612794 owl:Class MONDO:0006664 biolink:NamedThing atrial septal defect Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. tmpak2llvmy_mondo_relaxed.owl atrioseptal defect|ASD|congenital atrial septal defect|atrial septal defect|interauricular septal defect|auricular septal defect|interatrial septal defect|interatrial communication|interauricular communication|atrial septum defect EFO:1000825|MedDRA:10003664|OMIMPS:108800|Orphanet:1478|ICD10:Q21.1|UMLS:C0018817|MedDRA:10019308|MedDRA:10068864|DOID:1882|NCIT:C84473|MESH:D006344|SCTID:253366007 owl:Class MONDO:0013944 biolink:NamedThing autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation tmpak2llvmy_mondo_relaxed.owl APLAID|AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated UMLS:C3553961|Orphanet:324530|OMIM:614878 owl:Class MONDO:0017956 biolink:NamedThing mixed autoinflammatory and autoimmune syndrome tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:324933|UMLS:CN204102 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0015666 biolink:NamedThing familial idiopathic dilatation of the right atrium Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. tmpak2llvmy_mondo_relaxed.owl familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium (disease) SCTID:716773002|UMLS:CN200093|Orphanet:1677|ICD10:Q20.8 owl:Class MONDO:0020294 biolink:NamedThing atrial defect and interatrial communication tmpak2llvmy_mondo_relaxed.owl atrial defect and interauricular communication|rare atrial defect and interatrial communication ICD10:Q21.1|Orphanet:98727 owl:Class MONDO:0018963 biolink:NamedThing hereditary methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. tmpak2llvmy_mondo_relaxed.owl autosomal recessive methemoglobinemia|hereditary methemoglobinemia|congenital methemoglobinemia SCTID:267550008|GARD:0002659|Orphanet:621|NCIT:C98898|UMLS:C0272087|MESH:C580280|ICD10:D74.0 owl:Class MONDO:0002280 biolink:NamedThing anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. tmpak2llvmy_mondo_relaxed.owl anemia|anemia (disease)|anaemia anemia (disease) NCIT:C2869|ICD9:285.9|EFO:0004272|HP:0001903|MESH:D000740|ICD9:285.8|ICD10:D64.9|SCTID:271737000|DOID:2355 owl:Class MONDO:0007598 biolink:NamedThing factors VIII, IX and XI, combined deficiency of tmpak2llvmy_mondo_relaxed.owl familial multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|factors VIII, IX and XI, combined deficiency of|multiple coagulation Factor deficiency 5 MESH:C565023|OMIM:134520|UMLS:C1851375 owl:Class MONDO:0003117 biolink:NamedThing somatoform disorder A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. tmpak2llvmy_mondo_relaxed.owl physiological malfunction arising from mental factor|psychosomatic disorder|psychophysiologic disorder|somatoform disorder ICD9:300.8|ICD10:F45|MESH:D013001|NCIT:C34956|ICD9:300.81|DOID:4737|ICD9:306.8|SCTID:31297008|ICD10:F45.9|ICD10:F45.0 owl:Class MONDO:0002025 biolink:NamedThing psychiatric disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. tmpak2llvmy_mondo_relaxed.owl Psychiatric disorder|mental illness|disease of mental health|mental disorder|mental dysfunction|Psychiatric disease ICD10:F99|MESH:D001523|ICD10:F99-F99|DOID:150|MFOMD:0000004|NCIT:C2893 owl:Class MONDO:0006456 biolink:NamedThing thymoma A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl THYM|primary thymic epithelial tumor|thymoma (disease)|primary thymic epithelial neoplasm|thymoma thymoma (disease) ICD10:D15.0|NCIT:C3411|DOID:3275|ICD9:239.89|MedDRA:10043670|SCTID:444231005|HP:0100522|ICD10:D38.4|ICDO:8580/1|ONCOTREE:THYM|UMLS:C0040100|EFO:1000581|Orphanet:99867 owl:Class MONDO:0018079 biolink:NamedThing thymic epithelial neoplasm An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. tmpak2llvmy_mondo_relaxed.owl Tet|epithelial tumor of Thymus|epithelial neoplasm of the Thymus|thymic epithelial tumor|thymus epithelial neoplasm|epithelial tumor of the Thymus|TEN|thymic epithelium neoplasm|Thymus epithelial tumor|Thymus epithelial neoplasm|epithelial neoplasm of Thymus|thymoma, adult ICD10:C37|MESH:C536905|UMLS:C1266101|ONCOTREE:TET|NCIT:C6450|GARD:0005201|ICD10:D15.0|Orphanet:3398 owl:Class GO:0043254 biolink:NamedThing regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. tmpak2llvmy_mondo_relaxed.owl regulation of protein complex assembly owl:Class GO:0051128 biolink:NamedThing regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpak2llvmy_mondo_relaxed.owl regulation of cell organization|regulation of cell organisation|regulation of cellular component organisation|regulation of cellular component organization and biogenesis owl:Class MONDO:0011310 biolink:NamedThing long chain fatty acids, defect in transport of tmpak2llvmy_mondo_relaxed.owl long chain fatty acids, defect in TRANSPORT OF OMIM:603376 owl:Class MONDO:0009223 biolink:NamedThing hypogonadotropic hypogonadism 23 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to LHB deficiency|HH23|Leydig cell hypoplasia due to LHB deficiency|46,XY disorder of sex development due to LHB deficiency|Pasqualini syndrome|fertile eunuch syndrome|hypogonadotropic hypogonadism 23 without anosmia|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to luteinizing hormone subunit beta deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|LHB hypogonadotropic hypogonadism ICD10:Q56.1|DOID:0090091|GARD:0010127|MESH:C537919|Orphanet:325448|OMIM:228300|UMLS:C0271582|SCTID:8829008|ICD9:253.4 owl:Class UBERON:0000117 biolink:NamedThing respiratory tube A tube in the respiratory system. Examples: bronchus, bronchiole, trachea. tmpak2llvmy_mondo_relaxed.owl respiratory conducting tube|segment of tracheobronchial tree|tracheobronchial tree segment|airway owl:Class CHEBI:33837 biolink:NamedThing conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. tmpak2llvmy_mondo_relaxed.owl complex protein|conjugated proteins owl:Class CHEBI:36080 biolink:NamedThing protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. tmpak2llvmy_mondo_relaxed.owl proteins owl:Class HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. tmpak2llvmy_mondo_relaxed.owl Widened vestibular aqueduct|Dilated vestibular aqueduct UMLS:C1863752|MSH:C566366 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z human_phenotype owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. tmpak2llvmy_mondo_relaxed.owl Vestibular abnormality UMLS:C0542259 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z human_phenotype owl:Class HGNC:18672 biolink:NamedThing CDK5RAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000979 biolink:NamedThing tibia The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl shankbone|shinbone owl:Class UBERON:0003608 biolink:NamedThing hindlimb long bone A long bone that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb long bone|long bone of inferior member|long bone of lower extremity|long bone of hindlimb|lower extremity long bone|inferior member long bone|long bone of hind limb owl:Class MONDO:0014885 biolink:NamedThing Hermansky-Pudlak syndrome 10 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome type 10|Hermansky-Pudlak syndrome caused by mutation in AP3D1|HPS10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome 10 OMIM:617050|UMLS:C4310746 owl:Class MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. tmpak2llvmy_mondo_relaxed.owl HPS (Hermansky Pudlak syndrome)|HPS|Hermansky Pudlak syndrome GARD:0006643|DOID:3753|NCIT:C37261|MedDRA:10071775|Orphanet:79430|OMIMPS:203300|MESH:D022861|ICD10:E70.331|SCTID:9311003|ICD10:E70.3|ICD9:270.2 owl:Class MONDO:0016962 biolink:NamedThing partial duplication of the long arm of chromosome 11 tmpak2llvmy_mondo_relaxed.owl 11q duplication|partial duplication of chromosome 11q|trisomy 11q|partial duplication of the long arm of chromosome type 11|partial trisomy of chromosome 11q|partial trisomy of the long arm of chromosome 11|11q trisomy|partial trisomy 11q|Duplication 11q|chromosome 11q duplication Orphanet:262923|GARD:0001923 owl:Class MONDO:0016932 biolink:NamedThing partial duplication of chromosome 11 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 11|partial duplication of chromosome type 11 SCTID:726350006|Orphanet:262653 owl:Class MONDO:0019091 biolink:NamedThing bronchopulmonary dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. tmpak2llvmy_mondo_relaxed.owl BPD ICD10:P27.1|MedDRA:10006475|NCIT:C90599|SCTID:67569000|MESH:D001997|Orphanet:70589|UMLS:C0006287|GARD:0005962 https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia owl:Class MONDO:0015930 biolink:NamedThing respiratory malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:182111 owl:Class UBERON:0010955 biolink:NamedThing trapezius pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006904 biolink:NamedThing head mesenchyme from mesoderm A head mesenchyme that develops_from a mesoderm. tmpak2llvmy_mondo_relaxed.owl head mesenchyme derived from mesoderm|head mesenchyme from mesoderm|cranial mesoderm|head mesenchyme from head mesoderm|mesenchyme from head mesoderm|head mesoderm|mesenchyme derived from head mesoderm owl:Class UBERON:0002378 biolink:NamedThing muscle of abdomen Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis. tmpak2llvmy_mondo_relaxed.owl abdomen muscle organ|abdominal muscle|abdominal wall musculature|abdominal wall muscle|abdomen muscle|muscle organ of abdomen owl:Class UBERON:0005172 biolink:NamedThing abdomen element An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. tmpak2llvmy_mondo_relaxed.owl abdomen organ owl:Class MONDO:0020276 biolink:NamedThing pigmentation disorder with eye involvement, excluding albinism tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227845|Orphanet:98708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pigmentation disease' MONDO_0006600 owl:Class MONDO:0020270 biolink:NamedThing pigmentation disorder with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227844|Orphanet:98700 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0011985 biolink:NamedThing hyper-IgM syndrome type 4 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. tmpak2llvmy_mondo_relaxed.owl hyper-IgM syndrome type 4|immunodeficiency with hyper IgM type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|HIGM4|hyper-IgM syndrome 4 DOID:0060760|OMIM:608184|GARD:0010580|MESH:C564277|ICD10:D80.5|Orphanet:101091|UMLS:C1842413 https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 owl:Class MONDO:0015976 biolink:NamedThing hyper-IgM syndrome without susceptibility to opportunistic infections tmpak2llvmy_mondo_relaxed.owl HIGM without susceptibility to opportunistic infections Orphanet:183666|ICD10:D80.5|UMLS:CN200573 owl:Class MONDO:0005322 biolink:NamedThing ulna fracture Fractures of the larger bone of the forearm. tmpak2llvmy_mondo_relaxed.owl bone fracture of ulna|ulna bone fracture EFO:0003950|MESH:D014458|SCTID:54556006 owl:Class MONDO:0005315 biolink:NamedThing bone fracture Breaks in bones. tmpak2llvmy_mondo_relaxed.owl fracture(s)|fracture of bone|fracture MESH:D050723|NCIT:C3046|SCTID:125605004|EFO:0003931 owl:Class UBERON:0001441 biolink:NamedThing hindlimb skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb region. tmpak2llvmy_mondo_relaxed.owl hindlimb skeleton|bones of lower limb|hind limb skeleton|skeleton of free lower limb|free lower limb skeleton|lower limb skeleton|set of bones of lower limb|skeleton of lower limb|ossa membri inferioris|hind-limb skeleton owl:Class UBERON:0007273 biolink:NamedThing pelvic appendage skeleton The collection of all skeletal elements in a pelvic appendage region. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpak2llvmy_mondo_relaxed.owl Autistic behaviour|Autistic behaviors|Autism spectrum disorders|Autism spectrum disorder|ASD|Pervasive developmental disorder|Autistic behaviours MSH:D000067877|UMLS:C0856975|UMLS:C1510586 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. tmpak2llvmy_mondo_relaxed.owl Behavioural/Psychiatric abnormality|Behavioral abnormality|Behavioral problems|Behavioural disorders|Psychiatric disorders|Behavioural changes|Behavioural abnormality|Behavioral changes|Behavioural symptoms|Behavioural problems|Behavioral/psychiatric abnormalities|Behavioural disturbances|Psychiatric disturbances|Behavioral symptoms|Behavioral disorders|Behavioral disturbances SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|UMLS:C0004941|UMLS:C0233514|MSH:D001526 HP:0002456|HP:0002368|HP:0000715 human_phenotype owl:Class MONDO:0002997 biolink:NamedThing anterior cranial fossa meningioma A meningioma that affects the anterior cranial fossa. tmpak2llvmy_mondo_relaxed.owl meningioma of the anterior fossa|anterior fossa meningioma|meningioma of anterior cranial fossa|meningioma (disease) of anterior cranial fossa|meningioma of the anterior cranial fossa|meningioma of anterior fossa|anterior cranial fossa meningioma (disease) DOID:4436|NCIT:C5286|UMLS:C1332301 owl:Class MONDO:0006396 biolink:NamedThing rectal villous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl rectum villous adenoma|rectal villous adenoma|villous adenoma of rectum|villous adenoma of the rectum UMLS:C0730199|NCIT:C4919|SCTID:312823001|EFO:1000506 owl:Class MONDO:0000530 biolink:NamedThing rectum adenoma An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpak2llvmy_mondo_relaxed.owl adenoma of rectum|adenoma of the rectum|rectal adenoma|rectum adenoma NCIT:C5546|UMLS:C1302652|SCTID:399730005|DOID:0050915 owl:Class MONDO:0100233 biolink:NamedThing long COVID-19 A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction. tmpak2llvmy_mondo_relaxed.owl post-acute sequelae of COVID-19|PASC|long haul COVID-19|post-acute sequelae of SARS-CoV-2 infection|long-haul COVID-19|sequelae of COVID-19 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100320 biolink:NamedThing post-COVID-19 disorder A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0002348 biolink:NamedThing epicardium a region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart. tmpak2llvmy_mondo_relaxed.owl heart epicardium|pericardium visceral mesothelium|visceral serous pericardium proper|visceral serous pericardium of heart owl:Class HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. tmpak2llvmy_mondo_relaxed.owl Abnormal serum immunoglobulin concentration|Abnormal serum immunoglobulin levels|Abnormal immunoglobulin concentration|Immunoglobulin abnormality|Abnormal serum level of immunoglobulin UMLS:C1855755 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 human_phenotype owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. tmpak2llvmy_mondo_relaxed.owl Reduced B cell function|Abnormality of B cell physiology UMLS:C1849242 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 human_phenotype owl:Class UBERON:0000304 biolink:NamedThing tendon sheath A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath tmpak2llvmy_mondo_relaxed.owl vagina tendinis|synovial tendon sheath owl:Class UBERON:0001251 biolink:NamedThing marginal zone of spleen the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens tmpak2llvmy_mondo_relaxed.owl spleen marginal zone|junctional zone of spleen|marginal zone owl:Class MONDO:0010911 biolink:NamedThing prolactin-producing pituitary gland adenoma Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. tmpak2llvmy_mondo_relaxed.owl prolactin producing pituitary adenoma|lactotrope adenoma|prolactin producing adenoma of the pituitary|prolactin producing pituitary gland adenoma|prolactin secreting pituitary adenoma|prolactin secreting adenoma of the pituitary|prolactinoma of the pituitary gland|familial prolactinoma|prolactin secreting adenoma of the pituitary gland|prolactin producing adenoma of the pituitary gland|PRL producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|prolactin producing adenoma of pituitary|prolactin secreting pituitary gland adenoma|prolactinoma, familial|pituitary adenoma, prolactin-secreting|prolactin-producing pituitary gland adenoma|prolactinoma of the pituitary|pituitary lactotrophic adenoma|prolactin-secreting pituitary adenoma|PRL-secreting pituitary adenoma|pituitary gland prolactinoma|prolactin secreting adenoma|prolactin secreting adenoma of pituitary|lactotroph adenoma|prolactinoma of pituitary|prolactin producing adenoma of pituitary gland|prolactinoma|prolactin secreting adenoma of pituitary gland|pituitary prolactinoma|prolactinoma of pituitary gland|lactotroph cell adenoma|PRLoma MESH:D015175|EFO:1000496|OMIM:600634|UMLS:C0033375|ICDO:8271/0|Orphanet:2965|NCIT:C3342|ICD10:E22.1|ICD10:D35.2|DOID:5394|GARD:0004508|SCTID:134209002|MedDRA:10036832 owl:Class MONDO:0008649 biolink:NamedThing venular insufficiency, systemic tmpak2llvmy_mondo_relaxed.owl venular insufficiency, systemic MESH:C566004|OMIM:192700|UMLS:C1860465 owl:Class HGNC:3153 biolink:NamedThing ECM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007034 biolink:NamedThing Adams-Oliver syndrome Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. tmpak2llvmy_mondo_relaxed.owl Adams Oliver syndrome|limb, scalp and skull defects|limb scalp and skull defects|congenital scalp defects with distal limb anomalies|congenital scalp defects with distal limb reduction anomalies|AOS GARD:0005739|DOID:0060227|UMLS:C0265268|ICD9:759.89|ICD10:Q87.2|Orphanet:974|OMIMPS:100300|SCTID:34748004|MESH:C538225 https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome owl:Class MONDO:0017432 biolink:NamedThing syndrome with limb reduction defects tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN203180|Orphanet:294955 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0008731 biolink:NamedThing familial adrenal hypoplasia with absent pituitary luteinizing hormone tmpak2llvmy_mondo_relaxed.owl adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone|familial adrenal hypoplasia with absent pituitary LH|familial adrenal hypoplasia, miniature type UMLS:C1859978|Orphanet:95700|MESH:C565976|OMIM:202150|ICD10:E27.1 owl:Class MONDO:0015770 biolink:NamedThing congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpak2llvmy_mondo_relaxed.owl SCTID:722944006|Orphanet:174590|NCIT:C120162|UMLS:C3899503|ICD10:E23.0 owl:Class CL:0010001 biolink:NamedThing stromal cell of bone marrow A stromal cell that is part_of a bone marrow. tmpak2llvmy_mondo_relaxed.owl bone marrow stromal cell GOC:cjm owl:Class CL:0002092 biolink:NamedThing bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. tmpak2llvmy_mondo_relaxed.owl BTO:0004850|FMA:83621 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. tmeehan 2010-07-22T04:48:15Z cell owl:Class MONDO:0012019 biolink:NamedThing spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. tmpak2llvmy_mondo_relaxed.owl SEDK|spondyloepiphyseal dysplasia, Kimberley type|Sedk ICD10:Q77.7|OMIM:608361|MESH:C564252|SCTID:719203001|Orphanet:93283 owl:Class MONDO:0018239 biolink:NamedThing aggrecan-related bone disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227289|Orphanet:364817 owl:Class GO:0033239 biolink:NamedThing negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpak2llvmy_mondo_relaxed.owl negative regulation of amine metabolism owl:Class MONDO:0014068 biolink:NamedThing cone-rod dystrophy 17 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 17|CORD17|cone-rod dystrophy 17 OMIM:615163|UMLS:C3554610|DOID:0111023 owl:Class MONDO:0021366 biolink:NamedThing neoplasm of middle ear A neoplasm (disease) that involves the middle ear. tmpak2llvmy_mondo_relaxed.owl neoplasm of the middle Ear|middle ear tumor|middle Ear neoplasm|tumor of the middle Ear|middle ear neoplasm (disease)|tumor of middle Ear|middle ear neoplasm|middle Ear tumor|tumor of middle ear|neoplasm of middle ear ICD9:239.89|NCIT:C4412|SCTID:127006003 owl:Class MONDO:0013633 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 4 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced, susceptibility to, 4|IIAE4|CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced caused by mutation in CPT2|encephalopathy, acute, infection-induced, susceptibility to, type 4 OMIM:614212 owl:Class UBERON:0004893 biolink:NamedThing interalveolar septum A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. tmpak2llvmy_mondo_relaxed.owl septum interalveolare|alveolar septum owl:Class MONDO:0011290 biolink:NamedThing dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability tmpak2llvmy_mondo_relaxed.owl dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation MESH:C566408|UMLS:C1864183|OMIM:603133 owl:Class GO:0002719 biolink:NamedThing negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. tmpak2llvmy_mondo_relaxed.owl down-regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|inhibition of cytokine production during immune response|negative regulation of cytokine production during immune response|downregulation of cytokine production during immune response|down regulation of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response owl:Class GO:0001818 biolink:NamedThing negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytokine formation|negative regulation of cytokine synthesis|down regulation of cytokine biosynthetic process|negative regulation of cytokine biosynthesis|downregulation of cytokine production|inhibition of cytokine production|negative regulation of cytokine anabolism|down-regulation of cytokine production|down regulation of cytokine production|negative regulation of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|down-regulation of cytokine biosynthetic process|inhibition of cytokine biosynthetic process|negative regulation of cytokine secretion owl:Class GO:0009893 biolink:NamedThing positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpak2llvmy_mondo_relaxed.owl up regulation of metabolic process|up-regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|upregulation of metabolic process|stimulation of metabolic process|positive regulation of multicellular organismal metabolic process|positive regulation of metabolism|stimulation of organismal metabolic process|up-regulation of organismal metabolic process owl:Class MONDO:0009948 biolink:NamedThing pyropoikilocytosis, hereditary An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. tmpak2llvmy_mondo_relaxed.owl pyropoikilocytosis, hereditary|pyropoikilocytosis hereditary|hereditary pyropoikilocytosis|HPP SCTID:9434008|MESH:C563004|NCIT:C98943|OMIM:266140|ICD9:790.09|Orphanet:98867|GARD:0004619 https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary owl:Class CHEBI:48407 biolink:NamedThing antiparkinson drug A drug used in the treatment of Parkinson's disease. tmpak2llvmy_mondo_relaxed.owl antiparkinson agent owl:Class CHEBI:66956 biolink:NamedThing antidyskinesia agent Any compound which can be used to treat or alleviate the symptoms of dyskinesia. tmpak2llvmy_mondo_relaxed.owl antidyskinetic agents|antidyskinetic drugs|antidyskinesia drug|antidyskinetic agent|antidyskinesia agents|antidyskinesia drugs|antidyskinetic drug owl:Class MONDO:0005244 biolink:NamedThing peripheral neuropathy A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. tmpak2llvmy_mondo_relaxed.owl neuropathy|peripheral nerve disorder|peripheral neuropathy NCIT:C4731|ICD10:G62.9|EFO:0003100|EFO:0004149|MedDRA:10034606|DOID:870|SCTID:386033004|NCIT:C119734|UMLS:C0442874 Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class MONDO:0016449 biolink:NamedThing mid-dermal elastolysis tmpak2llvmy_mondo_relaxed.owl Orphanet:228299 owl:Class MONDO:0016435 biolink:NamedThing acquired dermis elastic tissue disorder with decreased elastic tissue tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:228221|UMLS:CN226928 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired dermis elastic tissue disorder' MONDO_0016434 owl:Class MONDO:0024279 biolink:NamedThing chronic endometritis A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. tmpak2llvmy_mondo_relaxed.owl chronic endometritis|endometritis, chronic UMLS:C0238104|SCTID:63922003|NCIT:C102820 owl:Class MONDO:0000918 biolink:NamedThing endometritis An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. tmpak2llvmy_mondo_relaxed.owl endometrium inflammation|inflammation of endometrium|uterine infection EFO:1001312|MESH:D004716|NCIT:C26764|UMLS:C0014179|SCTID:78623009|DOID:1002 owl:Class UBERON:0010000 biolink:NamedThing multicellular anatomical structure An anatomical structure that has more than one cell as a part. tmpak2llvmy_mondo_relaxed.owl multicellular structure owl:Class UBERON:0004448 biolink:NamedThing distal epiphysis of phalanx A distal epiphysis that is part of a phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl head of phalanx owl:Class NCBITaxon:1678 biolink:NamedThing Bifidobacterium tmpak2llvmy_mondo_relaxed.owl Tissieria|Bifidibacterium PMID:20061504|GC_ID:11|PMID:11594590|PMID:17158978|PMID:1742200|PMID:8573484 ncbi_taxonomy owl:Class NCBITaxon:31953 biolink:NamedThing Bifidobacteriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0009326 biolink:NamedThing congenital heart block Heart block that occurs on or before 28 days of life. tmpak2llvmy_mondo_relaxed.owl heart block, congenital|congenital atrioventricular block ICD10:Q24.6|GARD:0006164|SCTID:46619002|UMLS:C0149530|MESH:C535758|MedDRA:10019263|OMIM:234700|Orphanet:60041|ICD9:746.86|DOID:990 https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block owl:Class MONDO:0000465 biolink:NamedThing atrioventricular block A heart block that is initiated in the atrioventricular node. tmpak2llvmy_mondo_relaxed.owl atrioventricular block (disease)|AVB|atrioventricular block|AV block|AV nodal block atrioventricular block (disease) ICD10:I44.30|SCTID:233917008|HP:0001678|ICD10:I44.3|UMLS:C0004245|MESH:D054537|DOID:0050820|ICD9:426.10 owl:Class MONDO:0007752 biolink:NamedThing hyperheparinemia tmpak2llvmy_mondo_relaxed.owl hyperheparinemia ICD9:286.5|MESH:C562723|SCTID:79674009|UMLS:C3203346|OMIM:144050 owl:Class ECTO:0000006 biolink:NamedThing exposure to ultraviolet radiation A exposure event involving the interaction of an exposure receptor to ultraviolet radiation. tmpak2llvmy_mondo_relaxed.owl ultraviolet radiation exposure owl:Class GO:0007147 biolink:NamedThing female meiosis II The cell cycle process in which the second meiotic division occurs in the female germline. tmpak2llvmy_mondo_relaxed.owl female meiosis II nuclear division owl:Class GO:0007135 biolink:NamedThing meiosis II The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. tmpak2llvmy_mondo_relaxed.owl meiosis II nuclear division owl:Class MONDO:0014722 biolink:NamedThing Roifman syndrome tmpak2llvmy_mondo_relaxed.owl spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|ROIFMAN syndrome|Roifman syndrome UMLS:C1846059|ICD10:Q77.7|OMIM:616651|MESH:C535866|Orphanet:353298|GARD:0009163 https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome owl:Class MONDO:0015132 biolink:NamedThing immunodeficiency predominantly affecting antibody production tmpak2llvmy_mondo_relaxed.owl ICD10:D80.2|ICD10:D80.6|Orphanet:101977|ICD10:D80.4|ICD10:D80.9|ICD10:D80.0|ICD10:D80.5|ICD10:D80.7|ICD10:D80.1|ICD10:D80.8|ICD10:D80.3 owl:Class MONDO:0021104 biolink:NamedThing alcoholic fatty liver disease Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. tmpak2llvmy_mondo_relaxed.owl alcoholic fatty liver|alcoholic Steatohepatitis ICD9:571.0|UMLS:C0015696|UMLS:C2718067|MESH:D005235|SCTID:50325005 owl:Class MONDO:0004790 biolink:NamedThing fatty liver disease A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. tmpak2llvmy_mondo_relaxed.owl fatty liver|hepatic lipidosis|steatosis of liver|fatty change of liver SCTID:197321007|ICD10:K70.0|ICD9:571.0|MESH:D005234|SCTID:371330000|ICD9:571.8|EFO:0003934|DOID:9452 owl:Class MONDO:0600014 biolink:NamedThing alveolar capillary dysplasia without misalignment of pulmonary veins A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins. tmpak2llvmy_mondo_relaxed.owl ACD without misalignment http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/pull/3186|https://github.com/monarch-initiative/mondo/issues/3026 owl:Class MONDO:0020295 biolink:NamedThing congenital pulmonary veins anomaly Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. tmpak2llvmy_mondo_relaxed.owl pulmonary vein abnormality|congenital anomaly of pulmonary veins NCIT:C110942|SCTID:111322000|Orphanet:98729 owl:Class MONDO:0005328 biolink:NamedThing eye disease A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. tmpak2llvmy_mondo_relaxed.owl eye disorder|disease of eyeball of camera-type eye|disorder of globe|disease of eyeball|disorder of eye|disease or disorder of eyeball of camera-type eye|eye disease|eyeball of camera-type eye disease|eyeball of camera-type eye disease or disorder|disorder of eyeball of camera-type eye|disorder of eyeball|disorder of eye proper|disease of eye ICD9:360|SCTID:371405004|ICD9:360.9|EFO:0003966|ICD9:360.89|ICD9:379.90|DOID:5614|ICD9:379.8|ICD10:H44.9|NCIT:C26767|UMLS:C0015397|MESH:D005128|ICD10:H44 owl:Class GO:0002579 biolink:NamedThing positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. tmpak2llvmy_mondo_relaxed.owl up-regulation of antigen processing and presentation|stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|activation of antigen processing and presentation|up regulation of antigen processing and presentation owl:Class GO:0002684 biolink:NamedThing positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. tmpak2llvmy_mondo_relaxed.owl upregulation of immune system process|activation of immune system process|up-regulation of immune system process|stimulation of immune system process|up regulation of immune system process owl:Class MONDO:0002038 biolink:NamedThing head and neck carcinoma A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpak2llvmy_mondo_relaxed.owl head and neck carcinoma|carcinoma of craniocervical region|craniocervical region carcinoma|carcinoma of the neck|carcinoma of the head and neck|carcinoma of head and neck|carcinoma of neck|neck carcinoma|head and neck cancer UMLS:C1334927|NCIT:C35850|DOID:1542|UMLS:C3887461 owl:Class MONDO:0016853 biolink:NamedThing ring chromosome Y Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. tmpak2llvmy_mondo_relaxed.owl Ring chromosome Y syndrome|Ring chromosome type Y|r(Y) Orphanet:261529|ICD10:Q98.6|SCTID:763407008 owl:Class MONDO:0020061 biolink:NamedThing chromosome Y structural anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98158|ICD10:Q98.6 owl:Class MONDO:0017004 biolink:NamedThing partial monosomy of the short arm of chromosome X tmpak2llvmy_mondo_relaxed.owl partial monosomy of the short arm of chromosome type X|partial deletion of the short arm of chromosome X|partial deletion of chromosome Xp|partial monosomy of chromosome Xp ICD10:Q99.8|Orphanet:263731 owl:Class MONDO:0017003 biolink:NamedThing partial deletion of chromosome X tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type X|partial monosomy of chromosome X ICD10:Q99.8|Orphanet:263726 owl:Class HGNC:2909 biolink:NamedThing DLL3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012075 biolink:NamedThing replacement bone Bone that forms as a replacement of another structural tissue. tmpak2llvmy_mondo_relaxed.owl replacement bones owl:Class UBERON:0010522 biolink:NamedThing replacement element Skeletal element that forms as a replacement or substitution of another element or tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002523 biolink:NamedThing cutaneous mucinosis The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). tmpak2llvmy_mondo_relaxed.owl mucinosis affecting the skin|mucinoses|mucinosis ICD9:701.8|DOID:3141|UMLS:C0162855|MESH:D017520|SCTID:402721001 Editor note: consider splitting by location owl:Class GO:0030148 biolink:NamedThing sphingolipid biosynthetic process The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl sphingolipid anabolism|sphingolipid formation|sphingolipid synthesis|sphingolipid biosynthesis owl:Class GO:0033280 biolink:NamedThing response to vitamin D Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpak2llvmy_mondo_relaxed.owl response to ergocalciferol|response to cholecalciferol|response to calciferol owl:Class GO:0033993 biolink:NamedThing response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000377 biolink:NamedThing maxillary nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses. tmpak2llvmy_mondo_relaxed.owl nervus maxillaris|trigeminal V nerve maxillary division|maxillary division [V2]|ramus maxillaris (ramus V2)|nervus maxillaris (Vb; V2)|second division of fifth cranial nerve|maxillary division [Vb]|maxillary division of fifth cranial nerve|nervus maxillaris [v2]|n. maxillaris|maxillary nerve [V2]|second division of trigeminal nerve|maxillary nerve [Vb]|nervus maxillaris [vb]|trigeminal nerve maxillary division|maxillary division of trigeminal nerve (Vb; V2) owl:Class MONDO:0019225 biolink:NamedThing gluconeogenesis disorder An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. tmpak2llvmy_mondo_relaxed.owl inborn gluconeogenesis disorder|inborn error of gluconeogenesis|rare inborn error of gluconeogenesis ICD10:E74.4|Orphanet:79177|UMLS:CN227592 owl:Class MONDO:0002908 biolink:NamedThing glucose metabolism disease A metabolic disorder characterized by abnormal blood glucose levels. tmpak2llvmy_mondo_relaxed.owl glucose metabolism disorder|disorder of glucose metabolism UMLS:C1257958|ICD9:271.8|SCTID:126877002|NCIT:C53655|MESH:D044882|DOID:4194 owl:Class HGNC:2602 biolink:NamedThing CYP24A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100157 biolink:NamedThing Imerslund-Grasbeck syndrome type 2 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). tmpak2llvmy_mondo_relaxed.owl megaloblastic anemia, Norwegian type OMIM:618882 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:3401 biolink:NamedThing EPHX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009359 biolink:NamedThing multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome tmpak2llvmy_mondo_relaxed.owl multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly|MARCH syndrome|hydranencephaly with renal aplasia-dysplasia|MARCH DOID:0080327|Orphanet:500135|OMIM:236500|MESH:C565507|UMLS:C1856053 owl:Class UBERON:0006011 biolink:NamedThing hyaloid vein tmpak2llvmy_mondo_relaxed.owl hyaloid veins owl:Class UBERON:0009141 biolink:NamedThing craniocervical region vein A vein that is part of a craniocervical region. tmpak2llvmy_mondo_relaxed.owl craniocervical vein|head and neck veins|vein of head and neck owl:Class MONDO:0006161 biolink:NamedThing colorectal juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpak2llvmy_mondo_relaxed.owl colorectal retention polyp|juvenile polyp of the large bowel|large bowel juvenile polyp|large intestinal juvenile polyp|juvenile polyp of large bowel NCIT:C5681|EFO:1000194 owl:Class MONDO:0006160 biolink:NamedThing colorectal hamartoma A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp. tmpak2llvmy_mondo_relaxed.owl large intestinal hamartoma|colorectum hamartoma (disease)|colorectal hamartoma EFO:1000193|NCIT:C96474|UMLS:C3272801 owl:Class UBERON:0035091 biolink:NamedThing extrinsic post-anal tail muscle A post-anal tail that attaches outside the tail. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003665 biolink:NamedThing post-anal tail muscle A muscle organ that attaches to a tail vertebra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tail muscle|caudal muscle|muscle organ of tail|tail muscle organ|muscle organ of post-vent region|post-vent region muscle organ owl:Class CHEBI:22723 biolink:NamedThing benzoic acids Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33859 biolink:NamedThing aromatic carboxylic acid Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. tmpak2llvmy_mondo_relaxed.owl aromatic carboxylic acids owl:Class MONDO:0019188 biolink:NamedThing Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. tmpak2llvmy_mondo_relaxed.owl Broad thumb-hallux syndrome|RSTS|proximal chromosome 16p13.3 deletion syndrome|Rubinstein syndrome|Broad thumbs-halluces syndrome UMLS:C0035934|MESH:D012415|ICD9:759.89|MedDRA:10039281|OMIMPS:180849|ICD10:Q87.2|GARD:0007593|NCIT:C75466|Orphanet:783|SCTID:45582004|DOID:1933 owl:Class UBERON:0013753 biolink:NamedThing distal epiphysis of metacarpal bone A distal epiphysis that is part of a metacarpal bone. tmpak2llvmy_mondo_relaxed.owl lower end of metacarpal bone|head of metacarpal bone|caput ossis metacarpi|distal end of metacarpal bone owl:Class UBERON:0004390 biolink:NamedThing epiphysis of metacarpal bone An epiphysis that is part of a metacarpal bone [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl metacarpal epiphysis|metacarpal bone epiphysis|epiphysis of metacarpal owl:Class MONDO:0010939 biolink:NamedThing low phospholipid associated cholelithiasis Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. tmpak2llvmy_mondo_relaxed.owl gallbladder disease type 1|cholelithiasis with ABCB4 gene mutation|ABCB4 gene mutation-associated cholelithiasis|GBD1|cholelithiasis, Low phospholipid-associated|gallbladder disease 1|LPAC UMLS:C2609268|SCTID:715577009|OMIM:600803|MedDRA:10068936|Orphanet:69663 owl:Class MONDO:0002155 biolink:NamedThing cholecystitis An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. tmpak2llvmy_mondo_relaxed.owl chronic cholecystitis|acute and chronic cholecystitis|gall bladder inflammation|gallstone cholecystitis|acute cholecystitis|inflammation of gall bladder|acalculous cholecystitis|acute on chronic cholecystitis SCTID:20824003|MESH:D002764|NCIT:C34465|GARD:0000030|ICD9:575.11|ICD10:K81.9|ICD10:K81|DOID:1949|ICD9:575.10 owl:Class GO:0031324 biolink:NamedThing negative regulation of cellular metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl down-regulation of cellular metabolic process|down regulation of cellular metabolic process|inhibition of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism owl:Class GO:0009892 biolink:NamedThing negative regulation of metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpak2llvmy_mondo_relaxed.owl down regulation of metabolic process|down-regulation of metabolic process|negative regulation of multicellular organismal metabolic process|negative regulation of metabolism|negative regulation of organismal metabolism|inhibition of metabolic process|downregulation of metabolic process|inhibition of organismal metabolic process owl:Class MONDO:0000213 biolink:NamedThing autoimmune disease, multisystem, infantile-onset tmpak2llvmy_mondo_relaxed.owl UMLS:CN238808|OMIMPS:615952 owl:Class MONDO:0014685 biolink:NamedThing progressive myoclonic epilepsy type 9 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic, 9|epilepsy, progressive myoclonic, type 9|progressive myoclonus epilepsy type 9|progressive myoclonic epilepsy due to LMNB2 deficiency|EPM9|progressive myoclonic epilepsy caused by mutation in LMNB2|LMNB2 progressive myoclonic epilepsy|PME type 9 Orphanet:457265|UMLS:C4225289|ICD10:G40.3|DOID:0111450|OMIM:616540 owl:Class MONDO:0020074 biolink:NamedThing progressive myoclonus epilepsy A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic|progressive myoclonus epilepsy|progressive myoclonic epilepsy|familial progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|PME UMLS:C0751778|OMIMPS:254800|Orphanet:98261|GARD:0007140|NCIT:C7636|SCTID:267581004|DOID:891|MESH:D020191 owl:Class GO:0046997 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016645 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on the CH-NH group of donors, other acceptors owl:Class MONDO:0011046 biolink:NamedThing short stature, Brussels type This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome|Mievis Verellen-Dumoulin syndrome|short stature syndrome, Brussels type OMIM:601350|UMLS:C1832439|Orphanet:2867|MESH:C537121|SCTID:719213009|ICD10:Q87.1|GARD:0004838 owl:Class MONDO:0018532 biolink:NamedThing adenocarcinoma of liver and intrahepatic biliary tract tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the liver and IBT|adenocarcinoma of liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract UMLS:CN242181|ICD10:C22.1|Orphanet:424943|ICD10:C22.0 owl:Class MONDO:0004970 biolink:NamedThing adenocarcinoma A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma, malignant|ADNOS|adenocarcinomas|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma EFO:0000228|DOID:299|ICDO:8140/3|CSP:2000-0386|MESH:D000230|ONCOTREE:ADNOS|UMLS:C0001418|SCTID:443961001|NCIT:C2852 owl:Class MONDO:0044332 biolink:NamedThing childhood-onset benign chorea with striatal involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:494541 owl:Class MONDO:0017646 biolink:NamedThing neurodegenerative disease with chorea tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:306719|UMLS:CN203538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class MONDO:0008853 biolink:NamedThing Barber-Say syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. tmpak2llvmy_mondo_relaxed.owl hypertrichosis, atrophic skin, ectropion, and macrostomia|Bss|hypertrichosis atrophic skin ectropion macrostomia|Barber-Say syndrome|BBRSAY|Barber Say syndrome|BARBER-SAY syndrome|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Orphanet:1231|OMIM:209885|GARD:0000819|UMLS:C1319466|ICD10:Q87.0|MESH:C537908|DOID:0060549|SCTID:408537003 https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome owl:Class MONDO:0009780 biolink:NamedThing lethal omphalocele-cleft palate syndrome Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. tmpak2llvmy_mondo_relaxed.owl omphalocele cleft palate syndrome lethal|cleft palate-omphalocele syndrome, lethal|Czeizel syndrome|omphalocele-cleft palate syndrome, lethal GARD:0004079|UMLS:C1850317|MESH:C537747|Orphanet:2736|OMIM:258320|SCTID:719408007|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal owl:Class MONDO:0019594 biolink:NamedThing 46,XY disorder of sex development due to a testosterone synthesis defect tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to a testosterone synthesis defect 2022-03-01 UMLS:CN227656|Orphanet:90783 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0015327 biolink:NamedThing developmental anomaly of metabolic origin tmpak2llvmy_mondo_relaxed.owl Orphanet:139009 owl:Class UBERON:0008805 biolink:NamedThing gingival groove The gingival sulcus is an area of potential space between a tooth and the surrounding gingival tissue and is lined by sulcular epithelium. The depth of the sulcus (Latin for groove) is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin. tmpak2llvmy_mondo_relaxed.owl tooth-gingiva interface|sulcus gingivalis|gingival sulcus owl:Class HGNC:20193 biolink:NamedThing HFM1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032881 biolink:NamedThing regulation of polysaccharide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060255 biolink:NamedThing regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011626 biolink:NamedThing acromegaloid features, overgrowth, cleft palate, and hernia tmpak2llvmy_mondo_relaxed.owl acromegaloid features, overgrowth, cleft palate and hernia|Aoch|acromegaloid features, overgrowth, cleft palate, and hernia GARD:0010194|OMIM:606049|MESH:C535656|UMLS:C1853757 https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia owl:Class UBERON:0035039 biolink:NamedThing rectal artery tmpak2llvmy_mondo_relaxed.owl hemorrhoidal artery owl:Class MONDO:0017814 biolink:NamedThing primary bone lymphoma A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. tmpak2llvmy_mondo_relaxed.owl lymphoma of bone tissue|lymphoma of bone|primary lymphoma of the bone|bone tissue lymphoma|primary lymphoma of bone|bone lymphoma|lymphoma of the bone UMLS:C1332582|Orphanet:314684|NCIT:C6620|ICD10:C85,7|SCTID:766935007|ICD10:C85.7|DOID:6759 MONDO:0003986 owl:Class MONDO:0002129 biolink:NamedThing bone cancer A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. tmpak2llvmy_mondo_relaxed.owl cancer of skeletal element|malignant neoplasm of bone|cancer of bone|bone cancer|malignant bone tumour|malignant bone tumor|malignant skeletal element neoplasm|bone tumour|malignant neoplasm of skeletal element|malignant tumor of bone|cancer of the bone|malignant bone neoplasm|CA - bone cancer|bone neoplasm|skeletal element cancer|malignant osseous neoplasm|osseous cancer|malignant osseous tumor|malignant tumor of the bone|osseous tumor|malignant neoplasm of the bone SCTID:428281000|CSP:2019-1041|DOID:184|ICD9:170.9|MESH:D001859|NCIT:C4016 owl:Class GO:0051884 biolink:NamedThing regulation of timing of anagen Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpak2llvmy_mondo_relaxed.owl regulation of anagen owl:Class GO:0048819 biolink:NamedThing regulation of hair follicle maturation Any process that modulates the frequency, rate or extent of hair follicle maturation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014874 biolink:NamedThing pontocerebellar hypoplasia, type 2F Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene. tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 2F; PCH2F|PCH2F|pontocerebellar hypoplasia, type 2F|TSEN15 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15 OMIM:617026|UMLS:C4310757 owl:Class MONDO:0020135 biolink:NamedThing pontocerebellar hypoplasia Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. tmpak2llvmy_mondo_relaxed.owl nonsyndromic pontocerebellar hypoplasia|pontoneocerebllar hypoplasia|isolated pontocerebellar hypoplasia|pontoneocerebellar atrophy|PCH|pontocerebellar hypoplasia ICD10:Q04.3|SCTID:45163000|MESH:C580383|UMLS:CN924922|GARD:0010977|OMIMPS:607596|DOID:0060264|Orphanet:98523 https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia owl:Class MONDO:0019470 biolink:NamedThing aggressive NK-cell leukemia A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. tmpak2llvmy_mondo_relaxed.owl natural killer cell leukemia (disease)|natural Killer cell leukemia|ANKL|aggressive NK-cell leukemia (morphologic abnormality)|NK cell leukemia|NK-cell LGL leukemia|aggressive NK cell leukemia|aggressive NK-cell leukemia|NK-cell large granular lymphocyte leukemia|aggressive NK-cell lymphoma|large granular lymphocyte leukemia, NK-cell type|natural killer cell leukemia|leukemia (disease) of natural killer cell|NK-cell leukemia|aggressive natural killer cell leukemia|aggressive NK-cell leukemia/lymphoma|ANKCL GARD:0010493|Orphanet:86873|DOID:1035|MedDRA:10028811|ONCOTREE:ANKL|ICDO:9948/3|NCIT:C8647|ICD10:C94.8|ICD10:C94.7|SCTID:721310007|UMLS:C1292777 https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia owl:Class MONDO:0003537 biolink:NamedThing precursor T-lymphoblastic lymphoma/leukemia A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl precursor T-lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia NCIT:C8694|ICDO:9837/3|DOID:5599|UMLS:C1301359 owl:Class MONDO:0010838 biolink:NamedThing gonadal agenesis A congenital disorder characterized by the complete absence of gonadal tissue. tmpak2llvmy_mondo_relaxed.owl gonadal agenesis NCIT:C27228|OMIM:600171 See https://github.com/obophenotype/human-phenotype-ontology/issues/3571 owl:Class UBERON:0009537 biolink:NamedThing vascular element of right lung A vascular plexus that is part of a right lung. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005629 biolink:NamedThing vascular plexus A vascular network formed by frequent anastomoses between the blood vessels (arteries or veins) of a part. tmpak2llvmy_mondo_relaxed.owl plexus vasculosus owl:Class HP:0012210 biolink:NamedThing Abnormal renal morphology Any structural anomaly of the kidney. tmpak2llvmy_mondo_relaxed.owl Structural kidney abnormalities|Abnormal kidney morphology|Kidney structure issue|Kidney malformation|Structural renal anomalies|Abnormally shaped kidney|Renal malformation|Structural anomalies of the renal tract UMLS:C0266292|Fyler:4512|SNOMEDCT_US:44513007 peter 2013-03-14T07:41:11Z HP:0000792|HP:0004726|HP:0008712|HP:0004735 human_phenotype owl:Class HP:0000077 biolink:NamedThing Abnormality of the kidney An abnormality of the kidney. tmpak2llvmy_mondo_relaxed.owl Renal anomalies|Abnormality of the kidney|Abnormal kidney|Renal anomaly MSH:D007674|SNOMEDCT_US:44513007|SNOMEDCT_US:90708001|UMLS:C0266292|UMLS:C0022658 The kidney is a paired organ whose primary function is the production of urine. human_phenotype owl:Class ENVO:09200011 biolink:NamedThing pressure of air The pressure of some air. tmpak2llvmy_mondo_relaxed.owl air pressure owl:Class PATO:0001025 biolink:NamedThing pressure A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016126 biolink:NamedThing sterol biosynthetic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpak2llvmy_mondo_relaxed.owl sterol biosynthesis|sterol synthesis|sterol anabolism|sterol formation owl:Class GO:0016125 biolink:NamedThing sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpak2llvmy_mondo_relaxed.owl sterol metabolism owl:Class CHEBI:76413 biolink:NamedThing greenhouse gas A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. tmpak2llvmy_mondo_relaxed.owl greenhouse gases owl:Class CHEBI:51086 biolink:NamedThing chemical role A role played by the molecular entity or part thereof within a chemical context. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014112 biolink:NamedThing cardiofaciocutaneous syndrome 2 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpak2llvmy_mondo_relaxed.owl KRAS cardiofaciocutaneous syndrome|kras cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome caused by mutation in KRAS|CFC2|cardiofaciocutaneous syndrome 2|cardiofaciocutaneous syndrome type 2|cardiofaciocutaneous syndrome caused by mutation in kras OMIM:615278|DOID:0111461|UMLS:C3809005 owl:Class MONDO:0015280 biolink:NamedThing cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. tmpak2llvmy_mondo_relaxed.owl CFC|cardiofaciocutaneous syndrome|CFC syndrome|congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardiofaciocutaneous (CFC) syndrome|cardio-facial-cutaneous syndrome|cardio-facio-cutaneous syndrome OMIMPS:115150|ICD10:Q87.8|MESH:C535579|DOID:0060233|GARD:0009146|NCIT:C84617|UMLS:C1275081|Orphanet:1340|SCTID:403770008 owl:Class UBERON:0009672 biolink:NamedThing oronasal membrane The oronasal membrane separates the oral cavity and nasal cavity. tmpak2llvmy_mondo_relaxed.owl bucconasal membrane owl:Class UBERON:0000481 biolink:NamedThing multi-tissue structure Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. tmpak2llvmy_mondo_relaxed.owl multi-tissue structures owl:Class MONDO:0006683 biolink:NamedThing brachial plexus neuropathy A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. tmpak2llvmy_mondo_relaxed.owl brachial plexopathy|brachial nerve plexus peripheral neuropathy|brachial plexus disorder|peripheral neuropathy of brachial nerve plexus SCTID:3548001|NCIT:C27194|UMLS:C0700251|DOID:3690|EFO:1000844|ICD9:353.0|ICD10:G54.0|MESH:D020516 owl:Class MONDO:0008201 biolink:NamedThing Perry syndrome Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. tmpak2llvmy_mondo_relaxed.owl parkinsonism with alveolar hypoventilation and mental depression|Parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome MESH:C566822|UMLS:C1868594|Orphanet:178509|ICD9:348.89|SCTID:699184009|OMIM:168605|GARD:0010453|DOID:0060486 https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome owl:Class MONDO:0013278 biolink:NamedThing lymphatic malformation 3 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. tmpak2llvmy_mondo_relaxed.owl lymphedema, hereditary, IC|GJC2 hereditary lymphedema|LMPH1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, 1C|lymphedema, hereditary, type 1C OMIM:613480|UMLS:C3150732|DOID:0070208 owl:Class MONDO:0000342 biolink:NamedThing O'nyong'nyong fever An disease or disorder caused by infection with O'nyong-nyong virus. tmpak2llvmy_mondo_relaxed.owl O'nyong-nyong virus caused disease or disorder|O'nyong-nyong virus infectious disease|O'nyong-nyong virus disease or disorder SCTID:85579005|DOID:0050516|MEDGEN:547234|UMLS:C0276286|ICD10:A92.1 owl:Class MONDO:0001196 biolink:NamedThing psychologic dyspareunia tmpak2llvmy_mondo_relaxed.owl dyspareunia, psychogenic|non-organic dyspareunia ICD9:302.76|ICD10:F52.6|DOID:11120|SCTID:41021005|MESH:D004414 owl:Class MONDO:0000947 biolink:NamedThing psychosexual disorder tmpak2llvmy_mondo_relaxed.owl non-organic sexual dysfunction DOID:10132|SCTID:56627002|ICD9:302.9|ICD9:302.89|ICD9:302.79 owl:Class MONDO:0009648 biolink:NamedThing peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome OMIM:252320|Orphanet:2400|MESH:C536988|UMLS:C1854961 owl:Class MONDO:0033115 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 25 tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 25|autosomal recessive spinocerebellar ataxia 25|SCAR25 UMLS:CN349871|DOID:0080259|OMIM:617584 owl:Class MONDO:0012416 biolink:NamedThing Devriendt syndrome tmpak2llvmy_mondo_relaxed.owl Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism UMLS:C1857830|MESH:C535947|GARD:0010052|OMIM:610136 https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome owl:Class MONDO:0012239 biolink:NamedThing nemaline myopathy 1 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy 1, autosomal dominant or recessive|nemaline myopathy 1|nemaline myopathy caused by mutation in TPM3|NEM1|TPM3 nemaline myopathy|Nem1|Cap myopathy 1|nemaline myopathy type 1 UMLS:C1836448|DOID:0110926|MESH:C538348|OMIM:609284 owl:Class MONDO:0018958 biolink:NamedThing nemaline myopathy Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. tmpak2llvmy_mondo_relaxed.owl Rod body disease|nemaline rod myopathy|rod myopathy|NEM|nemaline body disease|nemaline myopathy|NM|Rod-body myopathy|nemaline rod disease|congenital rod disease MESH:D017696|DOID:3191|Orphanet:607|GARD:0012033|OMIMPS:161800|SCTID:75072002|UMLS:C0206157|ICD10:G71.2 owl:Class GO:0102175 biolink:NamedThing 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016616 biolink:NamedThing oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. tmpak2llvmy_mondo_relaxed.owl glyoxylic acid reductase|glycolate reductase|NADH-dependent glyoxylate reductase owl:Class GO:0045541 biolink:NamedThing negative regulation of cholesterol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpak2llvmy_mondo_relaxed.owl negative regulation of cholesterol formation|negative regulation of cholesterol synthesis|negative regulation of cholesterol biosynthesis|downregulation of cholesterol biosynthetic process|down regulation of cholesterol biosynthetic process|down-regulation of cholesterol biosynthetic process|negative regulation of cholesterol anabolism|inhibition of cholesterol biosynthetic process owl:Class GO:1902931 biolink:NamedThing negative regulation of alcohol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of alcohol synthesis|negative regulation of solventogenesis|inhibition of alcohol formation|down regulation of alcohol biosynthesis|down regulation of alcohol synthesis|downregulation of alcohol formation|negative regulation of alcohol biosynthesis|down-regulation of alcohol anabolism|down regulation of alcohol formation|negative regulation of alcohol anabolism|negative regulation of alcohol formation|down-regulation of alcohol biosynthesis|inhibition of alcohol synthesis|down-regulation of alcohol biosynthetic process|downregulation of alcohol biosynthetic process|inhibition of alcohol biosynthetic process|down-regulation of alcohol formation|downregulation of alcohol biosynthesis|inhibition of alcohol biosynthesis|down-regulation of alcohol synthesis|downregulation of alcohol anabolism|inhibition of alcohol anabolism|downregulation of alcohol synthesis|down regulation of alcohol anabolism|down regulation of alcohol biosynthetic process owl:Class MONDO:0013909 biolink:NamedThing human herpesvirus 8, susceptibility to tmpak2llvmy_mondo_relaxed.owl HUMAN HERPESVIRUS 8, susceptibility to|HHV8S|HHV-8, susceptibility to OMIM:614836 owl:Class GO:0002433 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway involved in phagocytosis An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. tmpak2llvmy_mondo_relaxed.owl phagocytosis triggered by activation of immune response cell surface activating receptor|immune response-regulating cell surface receptor signalling pathway involved in phagocytosis owl:Class GO:0002252 biolink:NamedThing immune effector process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012096 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. tmpak2llvmy_mondo_relaxed.owl CMT2L|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|Charcot-Marie-Tooth disease, axonal, type 2L|autosomal dominant Charcot-Marie-Tooth disease type 2L|HSPB8 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth neuropathy axonal type 2L GARD:0012432|ICD10:G60.0|UMLS:C4304673|OMIM:608673|DOID:0110174|Orphanet:99945|SCTID:719513008|UMLS:C1837552 owl:Class MONDO:0009046 biolink:NamedThing Fraser syndrome Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. tmpak2llvmy_mondo_relaxed.owl cryptophthalmos-syndactyly syndrome|Ulrich-Feichtiger syndrome|cryptophthalmos with Other malformations|Meyer-Schwickerath's syndrome|cryptophthalmos with other malformations|cryptophthalmos syndrome|cyclopism|Fraser syndrome|Fraser-Francois syndrome OMIMPS:219000|NCIT:C118436|ICD10:Q87.0|MESH:D058497|UMLS:C0265233|SCTID:204102004|GARD:0006465|DOID:0090001|Orphanet:2052 https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome owl:Class HP:0001732 biolink:NamedThing Abnormality of the pancreas An abnormality of the pancreas. tmpak2llvmy_mondo_relaxed.owl Abnormality of the pancreas|Pancreatic disease UMLS:C0030286|UMLS:C4025751|SNOMEDCT_US:3855007|MSH:D010182 human_phenotype owl:Class HP:0002012 biolink:NamedThing Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. tmpak2llvmy_mondo_relaxed.owl Abnormality of the abdominal organs|Gastrointestinal tract defects UMLS:C4021764 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. human_phenotype owl:Class CL:0002079 biolink:NamedThing pancreatic ductal cell Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH. tmpak2llvmy_mondo_relaxed.owl FMA:63099 tmeehan 2010-06-30T08:49:43Z cell owl:Class CL:0000069 biolink:NamedThing branched duct epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0000473 biolink:NamedThing arterial disorder An impairment of the structure or function of the blood vessels which carry blood away from the heart. tmpak2llvmy_mondo_relaxed.owl disease or disorder of artery|arterial disease|artery disease|disease of artery|artery disease or disorder|disorder of artery|arteriopathy|arterial disorder ICD9:447.8|NCIT:C35317|ICD9:447.9|DOID:0050828|UMLS:C0852949|SCTID:359557001 owl:Class CL:0002095 biolink:NamedThing hilus cell of ovary A cell in the hilum of the ovary that produces androgens. tmpak2llvmy_mondo_relaxed.owl hilar cell of ovary FMA:18710 tmeehan 2010-08-23T11:18:18Z cell owl:Class CL:0000593 biolink:NamedThing androgen secreting cell A steroid hormone secreting cell that secretes androgen. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0009340 biolink:NamedThing non-spherocytic hemolytic anemia due to hexokinase deficiency Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. tmpak2llvmy_mondo_relaxed.owl nonspherocytic hemolytic anemia due to hexokinase deficiency|hemolytic anemia, nonspherocytic, due to hexokinase deficiency|hexokinase deficiency hemolytic anemia GARD:0003672|OMIM:235700|Orphanet:90031|MESH:C562995|ICD10:D55.2 https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency owl:Class MONDO:0017688 biolink:NamedThing disorder of glycolysis tmpak2llvmy_mondo_relaxed.owl Orphanet:308459|UMLS:CN227176 owl:Class MONDO:0020560 biolink:NamedThing atypical teratoid rhabdoid tumor Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. tmpak2llvmy_mondo_relaxed.owl primary malignant rhabdoid neoplasm of brain|rhabdoid neoplasm of central nervous system|malignant rhabdoid tumor of the brain|malignant brain rhabdoid neoplasm|malignant rhabdoid neoplasm of the brain|central nervous system rhabdoid tumor|atypical teratoid/rhabdoid tumor (morphologic abnormality)|rhabdoid tumor of CNS|rhabdoid tumor of the central nervous system|malignant rhabdoid neoplasm of brain|ATRT|malignant brain rhabdoid tumor|CNS rhabdoid neoplasm|primary malignant brain rhabdoid neoplasm|primary malignant rhabdoid tumor of brain|rhabdoid neoplasm of CNS|CNS rhabdoid tumor|atypical teratoid/rhabdoid tumor (WHO grade IV)|primary malignant rhabdoid neoplasm of the brain|rhabdoid tumor of central nervous system|atypical teratoid/rhabdoid tumor|rhabdoid tumor predisposition syndrome|rhabdoid tumor of the CNS|primary malignant rhabdoid tumor of the brain|rhabdoid neoplasm of the central nervous system|AT/RT|malignant rhabdoid tumor of brain|rhabdoid neoplasm of the CNS|ATT/RHT|central nervous system rhabdoid neoplasm|primary malignant brain rhabdoid tumor UMLS:C1266184|NCIT:C6906|ONCOTREE:ATRT|UMLS:CN207484|Orphanet:99966|ICDO:9508/3|ICD10:C49.9|EFO:1002008|DOID:2129 owl:Class MONDO:0016708 biolink:NamedThing embryonal tumor of neuroepithelial tissue tmpak2llvmy_mondo_relaxed.owl UMLS:CN201955|Orphanet:251852 owl:Class MONDO:0000660 biolink:NamedThing akinetopsia An agnosia that is a loss of motion perception. tmpak2llvmy_mondo_relaxed.owl DOID:0060130 owl:Class MONDO:0005638 biolink:NamedThing agnosia A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. tmpak2llvmy_mondo_relaxed.owl primary visual agnosia|dyspraxia syndrome|dyspraxia (finding)|agnosia|visual amnesia|Monomodal visual amnesia ICD10:R48.1|MESH:D000377|ICD10:R48.2|DOID:4090|NCIT:C84542|SCTID:68345001|GARD:0000008|EFO:0007136 https://rarediseases.info.nih.gov/diseases/8/agnosia owl:Class MONDO:0005384 biolink:NamedThing partial epilepsy A seizure caused by a localized disorder. tmpak2llvmy_mondo_relaxed.owl localisation-related epilepsy|focal epilepsy|partial epilepsy MESH:D004828|UMLS:C0014547|ICD9:345.50|NCIT:C122812|DOID:2234|EFO:0004263|SCTID:230381009 owl:Class CL:0002308 biolink:NamedThing epithelial cell of skin gland An epithelial cell of a skin gland. tmpak2llvmy_mondo_relaxed.owl epithelial cell of gland of skin FMA:70657 tmeehan 2010-09-14T12:00:07Z cell owl:Class CL:0002159 biolink:NamedThing general ecto-epithelial cell Epithelial cells derived from general body ectoderm and ectoderm placodes. tmpak2llvmy_mondo_relaxed.owl FMA:70556 tmeehan 2010-08-26T08:31:08Z cell owl:Class MONDO:0012993 biolink:NamedThing dyschromatosis universalis hereditaria 2 tmpak2llvmy_mondo_relaxed.owl DUH2|dyschromatosis universalis hereditaria 2 OMIM:612715|MESH:C567194|UMLS:C2675183 owl:Class MONDO:0000736 biolink:NamedThing dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. tmpak2llvmy_mondo_relaxed.owl DUH|dyschromatosis universalis UMLS:C1306229|OMIMPS:127500|GARD:0001996|Orphanet:241|MESH:C535730|DOID:0060304|SCTID:239082002|UMLS:C2930995|ICD10:L81.8 https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria owl:Class MONDO:0002844 biolink:NamedThing lymphocytic gastritis tmpak2llvmy_mondo_relaxed.owl lymphocytic gastritis SCTID:360375007|DOID:4035|NCIT:C27051|ICD9:535.40|UMLS:C1283271 owl:Class MONDO:0004966 biolink:NamedThing gastritis Inflammation of the stomach. tmpak2llvmy_mondo_relaxed.owl gastritis (disease)|inflammation of stomach|acute gastric mucosal erosion|stomach inflammation|erosive gastropathy|erosive gastritis|gastritis gastritis (disease) ICD9:535.4|UMLS:C0017152|EFO:0000217|ICD9:535.00|UMLS:C2243088|HP:0005263|ICD9:535.01|ICD9:535.41|UMLS:C3854048|ICD9:535.0|UMLS:C2243090|UMLS:C0267112|NCIT:C26780|MESH:D005756|ICD10:K29.7|DOID:4029|ICD9:535.40|SCTID:4556007 owl:Class MONDO:0014921 biolink:NamedThing developmental and epileptic encephalopathy, 43 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 43|GABRB3 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in GABRB3|epileptic encephalopathy, early infantile, type 43|DEE43|epileptic encephalopathy, early infantile, 43; EIEE43|EIEE43 DOID:0080447|OMIM:617113|UMLS:C4310712 owl:Class MONDO:0016532 biolink:NamedThing Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. tmpak2llvmy_mondo_relaxed.owl Lennox syndrome|LGS|encephalopathy of childhood|macrocephaly and epileptic encephalopathy|epileptic encephalopathy Lennox-Gastaut type NCIT:C84816|UMLS:C0238111|MESH:D065768|DOID:0050561|MedDRA:10048816|GARD:0009912|Orphanet:2382|OMIM:606369|ICD10:G40.4|SCTID:230418006 https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome owl:Class UBERON:0015454 biolink:NamedThing pancreatic fat pad A fat pad that is part of a pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003586 biolink:NamedThing trunk connective tissue A portion of connective tissue that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl torso textus connectivus|connective tissue of torso|textus connectivus of torso|torso portion of connective tissue|trunk textus connectivus|portion of connective tissue of trunk|connective tissue of trunk|textus connectivus of trunk|torso connective tissue|portion of connective tissue of torso|trunk portion of connective tissue owl:Class MONDO:0009526 biolink:NamedThing fibular aplasia, tibial campomelia, and oligosyndactyly syndrome tmpak2llvmy_mondo_relaxed.owl limb deficiency-heart malformation syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|fibular aplasia-tibial campomelia-oligosyndactyly syndrome|FATCO syndrome|terminal transverse defects of the limbs associated with congenital heart malformations GARD:0002622|UMLS:CN776928|UMLS:C1855499|Orphanet:480773|OMIM:246570 owl:Class UBERON:0006924 biolink:NamedThing stomach glandular epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. tmpak2llvmy_mondo_relaxed.owl epithelium of gastric gland|gastric gland epithelium owl:Class UBERON:0001276 biolink:NamedThing epithelium of stomach The epithelial layer of the stomach . tmpak2llvmy_mondo_relaxed.owl epithelial tissue of ventriculus|gastric epithelium|ventriculus epithelial tissue|epithelium of ventriculus|ventriculus epithelium|stomach epithelium|epithelial tissue of stomach|stomach epithelial tissue owl:Class HP:0000123 biolink:NamedThing Nephritis The presence of inflammation affecting the kidney. tmpak2llvmy_mondo_relaxed.owl Kidney inflammation SNOMEDCT_US:52845002|MSH:D009393|UMLS:C0027697 HP:0008634 human_phenotype owl:Class MONDO:0011748 biolink:NamedThing Usher syndrome type 1G Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. tmpak2llvmy_mondo_relaxed.owl Usher syndrome type 1G|Usher syndrome type Ig|USHER syndrome, type Ig|Usher syndrome caused by mutation in USH1G|Usher syndrome, type 1G|USH1G|USH1G Usher syndrome UMLS:C1847089|OMIM:606943|ICD10:H35.5|MESH:C564643|DOID:0110834 owl:Class MONDO:0010168 biolink:NamedThing Usher syndrome type 1 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, type 1|Usher syndrome, type Ia, formerly|Usher syndrome, type I, French variety|Usher syndrome, type Ia|Usher syndrome, type 1B|Usher syndrome, type I, French variety, formerly|Usher syndrome, type 1A|USH1A|retinitis pigmentosa and congenital deafness|USHER syndrome, type I|US1|USH1|Usher syndrome type 1 Orphanet:231169|GARD:0005436|ICD10:H35.5|SCTID:232057003|NCIT:C126327|GARD:0005435|DOID:0110826 owl:Class HGNC:1040 biolink:NamedThing BFSP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003869 biolink:NamedThing childhood brain stem glioma An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. tmpak2llvmy_mondo_relaxed.owl pediatric glioma of the brainstem|childhood brainstem glioma|childhood glioma of brainstem|pediatric glioma of the brain stem|pediatric brain stem glioma|childhood glioma of the brain stem|childhood glioma of the brainstem|pediatric glioma of brain stem|brain stem glioma|pediatric brainstem glioma|pediatric glioma of brainstem|childhood glioma of brain stem|childhood brain stem glioma|brain stem glioma of childhood DOID:6383|NCIT:C9042|UMLS:C0278600|GARD:0009306 https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma owl:Class MONDO:0002911 biolink:NamedThing brain stem glioma A neuroglial tumor that arises from the brain stem. tmpak2llvmy_mondo_relaxed.owl brain stem neuroglial neoplasm|malignant glioma of brainstem|brain stem glioma|glioma of the brain stem|glioma of brainstem|brainstem neuroglial tumor|diffuse brainstem glioma|glioma of brain stem|glioma of the brainstem|brainstem glioma|brainstem malignant glioma|brain stem neuroglial tumor|brainstem neuroglial neoplasm UMLS:C0677865|NCIT:C8501|SCTID:444545003|DOID:4202 owl:Class MONDO:0015609 biolink:NamedThing advanced sleep phase syndrome Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. tmpak2llvmy_mondo_relaxed.owl familial advanced sleep phase syndrome|advanced sleep phase syndrome, familial|familial advanced sleep-phase syndrome|FASPS Orphanet:164736|GARD:0009242|ICD10:G47.2|SCTID:715829003|OMIMPS:604348|DOID:0050628 owl:Class MONDO:0024361 biolink:NamedThing circadian rhythm sleep disorder A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV) tmpak2llvmy_mondo_relaxed.owl circadian sleep disorder|sleep-wake schedule disorder|disorders of the sleep-wake schedule ICD10:G47.2|NCIT:C95071|ICD9:327.30|SCTID:3745000 owl:Class HP:0002143 biolink:NamedThing Abnormality of the spinal cord An abnormality of the spinal cord (myelon). tmpak2llvmy_mondo_relaxed.owl Abnormality of the spinal cord|Spinal cord disease|Spinal cord pathology MSH:D013118|UMLS:C4025722|SNOMEDCT_US:48522003|UMLS:C0037928 human_phenotype owl:Class UBERON:0001125 biolink:NamedThing serratus ventralis The serratus ventralis is a muscle that originates on the surface of the upper eight or nine ribs at the side of the chest and inserts along the entire anterior length of the medial border of the scapula. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl serratus anterior|serratus anterior muscle|musculus serratus anterior|Boxer's muscle|serratus lateralis|serratus ventralis muscle owl:Class UBERON:0034908 biolink:NamedThing scapular muscle Any of the muscles that are responsible for moving the scapula. In humans these are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5964 biolink:NamedThing IL10RA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018660 biolink:NamedThing hemophilia Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. tmpak2llvmy_mondo_relaxed.owl hemophilia SCTID:90935002|MedDRA:10061992|UMLS:C0684275|NCIT:C3093|Orphanet:448|GARD:0010418 owl:Class MONDO:0001563 biolink:NamedThing vestibulocochlear nerve disease A disease involving the vestibulocochlear nerve. tmpak2llvmy_mondo_relaxed.owl disorder of acoustic nerve|vestibulocochlear nerve disorder|acoustic nerve disorder|acoustic nerve disease|disease of vestibulocochlear nerve|disorder of eighth nerve|disorder of acoustovestibular nerve|disorder of the vestibulocochlear nerve|vestibulocochlear nerve disease or disorder|vestibulocochlear nerve disease|acoustic nerve disorder NOS|disorder of vestibulocochlear nerve|disease or disorder of vestibulocochlear nerve MESH:D000160|ICD9:388.5|SCTID:77949003|UMLS:C0001163|NCIT:C27207|DOID:12657|ICD10:H93.3X|ICD10:H93.3 owl:Class GO:1901343 biolink:NamedThing negative regulation of vasculature development Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. tmpak2llvmy_mondo_relaxed.owl downregulation of vasculature development|down regulation of vascular system development|inhibition of vascular system development|down regulation of vasculature development|down-regulation of vasculature development|inhibition of vasculature development|downregulation of vascular system development|down-regulation of vascular system development|negative regulation of vascular system development owl:Class GO:0051241 biolink:NamedThing negative regulation of multicellular organismal process Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpak2llvmy_mondo_relaxed.owl down regulation of multicellular organismal process|down-regulation of multicellular organismal process|inhibition of multicellular organismal process|downregulation of multicellular organismal process owl:Class MONDO:0100354 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 1 tmpak2llvmy_mondo_relaxed.owl Berdon syndrome|megacystis, microcolon, intestinal hypoperistalsis syndrome|megacystis, microcolon, hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|megacystis microcolon intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|MMIHS|MMIH syndrome GARD:0003442|NCIT:C98982|ICD10:Q43.8|DOID:0060610|Orphanet:2241|SCTID:253781004|UMLS:C1608393|OMIM:249210|MESH:C536138 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0025986 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:249210 owl:Class MONDO:0007797 biolink:NamedThing hypoparathyroidism-deafness-renal disease syndrome The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. tmpak2llvmy_mondo_relaxed.owl hypoparathyroidism, deafness, and renal anomalies syndrome|nephrosis, nerve deafness, and hypoparathyroidism|hypoparathyroidism, sensorineural deafness, and renal disease|HDR|hypoparathyroidism, sensorineural deafness, and renal dysplasia|Barakat syndrome|HDR syndrome|hypoparathyroidism-deafness-renal disease syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome Orphanet:2237|NCIT:C130983|ICD10:Q87.8|OMIM:146255|SCTID:724282009|DOID:0060878|UMLS:C1840333|MESH:C537907|GARD:0002911 owl:Class MONDO:0016789 biolink:NamedThing pyruvate metabolism disorder An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of pyruvate metabolic process|inborn error of pyruvate metabolic process|inborn pyruvate metabolic process disorder Orphanet:254746|ICD10:E74.4|UMLS:CN226999 owl:Class MONDO:0000688 biolink:NamedThing inherited organic acidemia An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. tmpak2llvmy_mondo_relaxed.owl organic aciduria|inborn organic acid metabolic process disorder|organic acid metabolism disorder|disorder of organic acid metabolism|rare inborn error of organic acid metabolic process|inborn error of organic acid metabolic process|organic acidemia DOID:0060159|GARD:0009433|Orphanet:289899|NCIT:C101334|ICD9:277.89|UMLS:C1263739 https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia owl:Class UBERON:0005023 biolink:NamedThing mucosa of oropharynx A mucosa that is part of a oropharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl oral part of pharynx mucosa|oral part of pharynx organ mucosa|mucosa of organ of oropharynx|oropharynx mucosa of organ|organ mucosa of oropharynx|mucosa of oral part of pharynx|oropharynx mucous membrane|oral part of pharynx mucosa of organ|oral part of pharynx mucous membrane|oropharynx organ mucosa|mucosa of organ of oral part of pharynx|organ mucosa of oral part of pharynx|mucous membrane of oropharynx|oropharynx mucosa|mucous membrane of oral part of pharynx owl:Class MONDO:0037858 biolink:NamedThing inherited fatty acid metabolism disorder A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. tmpak2llvmy_mondo_relaxed.owl disorders of fatty-acid metabolism|disorder of fatty acid metabolism|disorder of fat oxidation|fatty acid metabolism disorder|inherited fatty acid metabolism disorder NCIT:C117115|SCTID:39929009 owl:Class MONDO:0027091 biolink:NamedThing xanthogranulomatous sialadenitis tmpak2llvmy_mondo_relaxed.owl xanthogranulomatous salivary gland disease|sialadenitis, xanthogranulomatous GARD:0009739 owl:Class MONDO:0006969 biolink:NamedThing sialadenitis Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. tmpak2llvmy_mondo_relaxed.owl sialitis|saliva-secreting gland lymphadenitis (disease)|salivary gland inflammation|adenitis, salivary gland|sialoadenitis|lymphadenitis (disease) of saliva-secreting gland ICD9:527.2|ICD10:K11.2|DOID:10303|EFO:1001179|MedDRA:10040627|ICD10:K11.20|GARD:0007638|NCIT:C115165|SCTID:42982001|UMLS:C0037023|MESH:D012793 Editor note: TODO check NCIT mapping https://rarediseases.info.nih.gov/diseases/7638/sialadenitis owl:Class MONDO:0007552 biolink:NamedThing pretibial dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. tmpak2llvmy_mondo_relaxed.owl Deb, pretibial|DEB-Pt|pretibial epidermolysis bullosa|dystrophic epidermolysis bullosa, pretibial|epidermolysis bullosa dystrophica, pretibial|epidermolysis bullosa, pretibial|pretibial DEB OMIM:131850|ICD10:Q81.2|ICD9:757.39|Orphanet:79410|GARD:0002155|MESH:C535494|SCTID:67653003 owl:Class MONDO:0017608 biolink:NamedThing dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa dystrophica|epidermolysis bullosa, dermolytic|Dermolytic epidermolysis bullosa|DEB 2021-01-01 Orphanet:303|GARD:0002150|ICD10:Q81.2 Reason: duplicate. This will be merged with MONDO:0006543 Epidermolysis bullosa dystrophica owl:Class MONDO:0018465 biolink:NamedThing insulin autoimmune syndrome Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. tmpak2llvmy_mondo_relaxed.owl insulin autoimmune hypoglycemia|Hirata disease UMLS:C0854359|ICD10:E16.1|GARD:0010808|SCTID:408539000|DOID:0040100|ICD9:279.49|Orphanet:411593 https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome owl:Class MONDO:0000569 biolink:NamedThing autoimmune disease of endocrine system A hypersensitivity reaction type II disease that involves the endocrine system. tmpak2llvmy_mondo_relaxed.owl endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease DOID:0060005|SCTID:237822008|ICD9:279.49|UMLS:C0342552 owl:Class MONDO:0006112 biolink:NamedThing bladder inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpak2llvmy_mondo_relaxed.owl urinary bladder inflammatory myofibroblastic tumor|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of the urinary bladder|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of urinary bladder|inflammatory myofibroblastic tumor of the bladder|bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor of bladder|inflammatory myofibroblastic tumor of the urinary bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic bladder tumor|inflammatory myofibroblastic neoplasm of urinary bladder ONCOTREE:IMTB|UMLS:C1336891|EFO:1000127|NCIT:C6177 owl:Class MONDO:0015798 biolink:NamedThing inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. tmpak2llvmy_mondo_relaxed.owl IMT|inflammatory fibrosarcoma|inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor|inflammatory pseudotumor GARD:0007146|DOID:0050905|MESH:D006104|Orphanet:178342|UMLS:C0334121|NCIT:C6481|ICDO:8825/1|MedDRA:10067917|ONCOTREE:IMT https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor owl:Class MONDO:0007526 biolink:NamedThing Ehlers-Danlos syndrome progeroid type Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, progeroid type|B4GALT7-CDG|Ehlers-Danlos syndrome, spondylodysplastic type, 1|xylosylprotein 4-beta-galactosyltransferase deficiency|spondylodysplastic Ehlers-Danlos syndrome|galactosyltransferase 1 deficiency|XGPT deficiency|galactosyltransferase I deficiency|dermatan sulfate proteoglycan|Pds, defective biosynthesis of|EDSSPD1|EDS, progeroid type|proteodermatan sulfate, defective biosynthesis of|defective biosynthesis of proteodermatan sulfate|Ehlers-Danlos syndrome, progeroid type (former)|Ehlers-Danlos syndrome with short stature and limb anomalies|PDS ICD10:Q79.6|GARD:0009991|DOID:0050802|UMLS:C1869122|Orphanet:75496|SCTID:720861000|MESH:C536201 owl:Class MONDO:0017742 biolink:NamedThing disorder of O-xylosylglycan synthesis tmpak2llvmy_mondo_relaxed.owl Orphanet:309450|UMLS:CN227189|ICD10:E77.8 owl:Class UBERON:0001653 biolink:NamedThing facial vein The anterior facial vein (facial vein) commences at the side of the root of the nose, and is a direct continuation of the angular vein where it also receives a small nasal branch. It lies behind the facial artery and follows a less tortuous course. It receives blood from the external palatine vein before it either joins the anterior branch of the retromandibular vein to form the common facial vein, or drains directly into the internal jugular vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vein of face|face vein|vena facialis anterior|anterior facial vein owl:Class UBERON:0003502 biolink:NamedThing neck blood vessel A blood vessel that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of neck (volume)|neck (volume) blood vessel|blood vessel of neck owl:Class UBERON:0011390 biolink:NamedThing pudendal nerve The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord. tmpak2llvmy_mondo_relaxed.owl internal pudendal nerve|pudendal|pudenal nerve owl:Class UBERON:0003444 biolink:NamedThing pelvis nerve A nerve that is part of a pelvis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of pelvis owl:Class MONDO:0008439 biolink:NamedThing spastic paraplegia-epilepsy-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl spastic paraplegia epilepsy intellectual disability|spemr|spastic paraplegia epilepsy mental retardation|spastic paraplegia, epilepsy, and intellectual disability|spastic paraplegia, epilepsy, and mental retardation|SPEMR Orphanet:2816|UMLS:C1866854|MESH:C536869|GARD:0004915|OMIM:182610|ICD10:G11.4 Editor note: TODO fix GARD spelling owl:Class GO:0060079 biolink:NamedThing excitatory postsynaptic potential A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpak2llvmy_mondo_relaxed.owl regulation of EPSP|regulation of excitatory post-synaptic membrane potential owl:Class GO:0060078 biolink:NamedThing regulation of postsynaptic membrane potential Any process that modulates the potential difference across a post-synaptic membrane. tmpak2llvmy_mondo_relaxed.owl regulation of post-synaptic membrane potential owl:Class MONDO:0005109 biolink:NamedThing HIV infectious disease An infection caused by the human immunodeficiency virus. tmpak2llvmy_mondo_relaxed.owl Human immunodeficiency virus infectious disease|Human immunodeficiency virus disease or disorder|human immunodeficiency virus infectious disease|HIV infection|Human immunodeficiency virus caused disease or disorder ICD10:B20-B20|ICD9:042-042.99|ICD10:B20.B24|SCTID:86406008|NCIT:C3108|ICD9:042|ICD10:B20|UMLS:C0019693|MESH:D015658|EFO:0000764|DOID:526 owl:Class MONDO:0021682 biolink:NamedThing viral sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. tmpak2llvmy_mondo_relaxed.owl sexually Transmitted disease, viral|viral sexually Transmitted diseases|viral sexually transmitted disease|venereal diseases, viral|diseases, viral venereal|disease, viral venereal|viral venereal diseases|viral venereal disease|venereal disease, viral MESH:D015229|UMLS:C0036918 owl:Class HP:0004305 biolink:NamedThing Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. tmpak2llvmy_mondo_relaxed.owl Involuntary muscle contractions|Involuntary movements UMLS:C0235086|SNOMEDCT_US:102542000 peter 2008-02-20T12:18:00Z HP:0007120 human_phenotype owl:Class HP:0100022 biolink:NamedThing Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. tmpak2llvmy_mondo_relaxed.owl Movement disorder|Abnormality of movement|Unusual movement SNOMEDCT_US:60342002|UMLS:C0026650|MSH:D009069 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. doelkens 2010-05-28T11:48:50Z HP:0001294 human_phenotype owl:Class MONDO:0009764 biolink:NamedThing ocular motor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. tmpak2llvmy_mondo_relaxed.owl oculomotor apraxia, Cogan type|congenital oculomotor apraxia|ocular motor apraxia|Cogan syndrome type 2|oculomotor apraxia Cogan type|saccade initiation failure congenital|saccade initiation failure, congenital|COMA|Cogan's syndrome type 2 MESH:C537423|GARD:0000016|Orphanet:1125|OMIM:257550|SCTID:405809000|ICD10:H51.8 owl:Class MONDO:0015368 biolink:NamedThing neuro-ophthalmological disease tmpak2llvmy_mondo_relaxed.owl Orphanet:140653|UMLS:CN199459 owl:Class MONDO:0010830 biolink:NamedThing neuronal ceroid lipofuscinosis 8 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. tmpak2llvmy_mondo_relaxed.owl CLN8 disease|neuronal ceroid lipofuscinosis type 8|ceroid lipofuscinosis, neuronal, type 8|neuronal ceroid lipofuscinosis caused by mutation in CLN8|ceroid lipofuscinosis, neuronal, 8|CLN8|CLN8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis 8 Orphanet:228354|MESH:C537952|ICD10:E75.4|DOID:0110723|OMIM:600143|SCTID:703526007 owl:Class MONDO:0016295 biolink:NamedThing neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. tmpak2llvmy_mondo_relaxed.owl hereditary ceroid lipofuscinosis|ceroid lipofuscinoses|neuronal ceroid lipofuscinosis|NCL NCIT:C61257|UMLS:C0027877|ICD10:E75.4|DOID:14503|GARD:0010739|SCTID:42012007|Orphanet:216|OMIMPS:256730 owl:Class MONDO:0010543 biolink:NamedThing Barth syndrome Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. tmpak2llvmy_mondo_relaxed.owl MGA type II|cardioskeletal myopathy-neutropenia syndrome|cardioskeletal myopathy with neutropenia and abnormal mitochondria|Mga, type 2|3-Methylglutaconicaciduria type II|BARTH syndrome|3-Methylglutaconicaciduria type 2|X-linked cardioskeletal myopathy and neutropenia|MGA type 2|3-Methylglutaconic aciduria, type 2|Barth syndrome|BTHS|TAZ defect|3-methylglutaconic aciduria type 2|MGA2|3-methylglutaconic aciduria type II DOID:0050476|Orphanet:111|OMIM:302060|MESH:D056889|SCTID:297231002|ICD10:E71.1|NCIT:C84585|UMLS:C0574083|GARD:0005890|ICD10:E78.71 https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome owl:Class GO:1903531 biolink:NamedThing negative regulation of secretion by cell Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. tmpak2llvmy_mondo_relaxed.owl downregulation of secretion by cell|down regulation of cellular secretion|downregulation of cellular secretion|inhibition of cellular secretion|down-regulation of cellular secretion|inhibition of secretion by cell|down-regulation of secretion by cell|negative regulation of cellular secretion|down regulation of secretion by cell owl:Class MONDO:0044764 biolink:NamedThing benign choroid plexus neoplasm tmpak2llvmy_mondo_relaxed.owl benign tumor of choroid plexus|benign choroid plexus tumor|benign tumor of the choroid plexus|benign neoplasm of the choroid plexus|benign choroid plexus tumors|benign choroid plexus neoplasms|benign neoplasm of choroid plexus|benign choroid plexus neoplasm UMLS:C0346290|NCIT:C8405|SCTID:254943007 owl:Class MONDO:0000629 biolink:NamedThing cardiovascular organ benign neoplasm A benign neoplasm that involves the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl cardiovascular system benign neoplasm DOID:0060091 owl:Class MONDO:0005042 biolink:NamedThing head disease A disease involving the head. tmpak2llvmy_mondo_relaxed.owl disease or disorder of head|head disease or disorder|disease of head|head disease|disorder of head EFO:0000524|SCTID:118934005|UMLS:C1290856 owl:Class UBERON:0008432 biolink:NamedThing thoracic vertebral foramen A vertebral foramen that is part of a thoracic vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005744 biolink:NamedThing bone foramen Anatomical space that is an opening in a bone, usually for passage of blood vessels or nerves. tmpak2llvmy_mondo_relaxed.owl foramen owl:Class MONDO:0023240 biolink:NamedThing gigantism advanced bone age hoarse cry tmpak2llvmy_mondo_relaxed.owl GARD:0002471 https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry owl:Class GO:0033143 biolink:NamedThing regulation of intracellular steroid hormone receptor signaling pathway Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of steroid hormone receptor signaling pathway|regulation of steroid hormone receptor signalling pathway owl:Class MONDO:0015161 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome without intellectual disability tmpak2llvmy_mondo_relaxed.owl MCA without intellectual disability|multiple congenital anomalies without intellectual disability with or without dysmorphism Orphanet:102285 owl:Class HGNC:20581 biolink:NamedThing CYP26B1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007320 biolink:NamedThing insemination The introduction of semen or sperm into the genital tract of a female. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048609 biolink:NamedThing multicellular organismal reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. tmpak2llvmy_mondo_relaxed.owl organismal reproductive process|reproductive process in a multicellular organism owl:Class HGNC:6709 biolink:NamedThing LTA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6000 biolink:NamedThing IL1RN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014250 biolink:NamedThing familial hyperprolactinemia Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. tmpak2llvmy_mondo_relaxed.owl familial hyperprolactinemia|hereditary hyperprolactinemia (disease)|hyperprolactinemia|HPRL|familial isolated prolactin receptor deficiency OMIM:615555|ICD10:E22.1|Orphanet:397685|SCTID:763715007 owl:Class MONDO:0017267 biolink:NamedThing self-healing collodion baby Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. tmpak2llvmy_mondo_relaxed.owl SICI|self-improving congenital ichthyosis|self-improving collodion baby|SHCB UMLS:C1855789|Orphanet:281122|SCTID:718632004|ICD10:Q80.2 owl:Class HGNC:1404 biolink:NamedThing CACNB4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005721 biolink:NamedThing pronephric mesoderm A mesoderm that has the potential to develop into a pronephros. tmpak2llvmy_mondo_relaxed.owl pronephric anlage|pronephric bulge|pronephric mesenchyme|pronephric primordium owl:Class MONDO:0032609 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 4 tmpak2llvmy_mondo_relaxed.owl MC1DN4|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 OMIM:618225 owl:Class MONDO:0100223 biolink:NamedThing mitochondrial complex I deficiency, nuclear type tmpak2llvmy_mondo_relaxed.owl OMIMPS:252010 Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 http://orcid.org/0000-0001-5208-3432 owl:Class GO:1900003 biolink:NamedThing regulation of serine-type endopeptidase activity Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of blood coagulation factor activity owl:Class GO:0052548 biolink:NamedThing regulation of endopeptidase activity Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl protease regulator activity owl:Class CL:2000001 biolink:NamedThing peripheral blood mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-02-11T17:29:04Z cell owl:Class CL:0000842 biolink:NamedThing mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form. tmpak2llvmy_mondo_relaxed.owl peripheral blood mononuclear cell|mononuclear leukocyte CALOHA:TS-0768|FMA:86713|BTO:0000878 cell owl:Class MONDO:0005856 biolink:NamedThing Mononegavirales infectious disease Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. tmpak2llvmy_mondo_relaxed.owl Mononegavirales disease or disorder|Mononegavirales caused disease or disorder MESH:D018701|EFO:0007376|UMLS:C0242916 owl:Class MONDO:0021451 biolink:NamedThing benign neoplasm of brain A benign neoplasm that involves the brain. tmpak2llvmy_mondo_relaxed.owl benign brain tumor|brain neoplasms, benign|benign neoplasm of the brain|benign brain neoplasm|brain benign neoplasm|benign tumor of brain|benign tumor of the brain NCIT:C4781|ICD9:225.0|EFO:1000107|SCTID:92030004 owl:Class UBERON:0004449 biolink:NamedThing cerebral artery One of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004573 biolink:NamedThing systemic artery An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. tmpak2llvmy_mondo_relaxed.owl systemic arterial subtree owl:Class CL:0000065 biolink:NamedThing ependymal cell A neurectoderm derived cell that lines the neural lumen. tmpak2llvmy_mondo_relaxed.owl ependymocyte BTO:0001724|FMA:70550 cell owl:Class MONDO:0030028 biolink:NamedThing neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline tmpak2llvmy_mondo_relaxed.owl CONATOC|NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM:618868 owl:Class ECTO:0000371 biolink:NamedThing exposure to oxygen molecular entity An exposure to oxygen molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to oxygen molecular entity owl:Class MONDO:0003630 biolink:NamedThing pancreatic serous cystadenocarcinoma A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain. tmpak2llvmy_mondo_relaxed.owl pancreas serous adenocarcinoma|pancreatic serous cystadenocarcinoma|serous cystadenocarcinoma of the pancreas|serous cystadenocarcinoma of pancreas ICD10:C25.0|ICD10:C25.7|ICD10:C25.2|DOID:5751|Orphanet:424073|UMLS:C1335315|ICD10:C25.8|ICD10:C25.1|NCIT:C5724 owl:Class MONDO:0002810 biolink:NamedThing pancreatic serous cystic neoplasm A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. tmpak2llvmy_mondo_relaxed.owl pancreatic serous neoplasm|pancreatic serous cystic neoplasm UMLS:C1518875|NCIT:C41248|DOID:3919 owl:Class MONDO:0007886 biolink:NamedThing uterine corpus leiomyoma A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl body of uterus fibroid|uterine fibroid|body of uterus leiomyoma|uterine corpus leiomyomata|fibroid of the uterine body|fibroid of body of uterus|fibroid of the uterine corpus|leiomyoma of the uterine corpus|uterine corpus leiomyoma|fibroid of the corpus uteri|fibroid of uterine body|corpus uteri leiomyoma|uterine corpus fibroid|uterus fibroma|UL|leiomyoma of uterine body|plexiform leiomyoma|leiomyoma, uterine|uterine body fibroid|uterine leiomyoma|leiomyoma of body of uterus|uterine body leiomyoma|corpus uteri fibroid|leiomyoma of uterine corpus|fibroid of the body of uterus|leiomyoma of the uterine body|leiomyoma of the body of uterus|leiomyoma of the corpus uteri|fibroid of corpus uteri|fibroid of uterine corpus|leiomyoma of corpus uteri UMLS:C2242776|OMIM:150699|SCTID:95315005|ICD9:218.9|ICD9:218|ICD10:D25|EFO:0000731|ICD10:D25.9|DOID:13223|ONCOTREE:ULM|NCIT:C3434|HP:0000131|UMLS:C0042133 owl:Class MONDO:0005167 biolink:NamedThing fibroma A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. tmpak2llvmy_mondo_relaxed.owl fibroma, benign|fibroma EFO:0002424|SCTID:424568000|MESH:D005350|DOID:0050871|NCIT:C3041|ICD9:215.9|ICDO:8810/0 owl:Class UBERON:0001236 biolink:NamedThing adrenal medulla the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine tmpak2llvmy_mondo_relaxed.owl medulla of suprarenal gland|medulla glandulae suprarenalis|medulla of glandula suprarenalis|adrenal gland medulla|medulla (glandula suprarenalis)|chromaffin cells|suprarenal medulla|medulla of adrenal gland|adrenal central medulla owl:Class MONDO:0010035 biolink:NamedThing Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. tmpak2llvmy_mondo_relaxed.owl polydactyly, sex reversal, renal hypoplasia, and unilobular lung|Smith-Opitz-inborn syndrome|7-dehydrocholesterol reductase deficiency|Rutledge lethal multiple congenital anomaly syndrome|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|lethal acrodysgenital syndrome|Smith-Lemli-Opitz syndrome|RSH syndrome|SLO syndrome|Smith Lemli Opitz syndrome|SLOS MESH:D019082|Orphanet:818|GARD:0005683|OMIM:270400|UMLS:C0175694|ICD10:E78.72|ICD9:759.89|NCIT:C85071|ICD10:Q87.1|DOID:14692|SCTID:43929004 https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome owl:Class MONDO:0017373 biolink:NamedThing poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. tmpak2llvmy_mondo_relaxed.owl Polia|poliomyelitis|infantile paralysis|acute poliomyelitis|polio SCTID:398102009|MedDRA:10036012|ICD9:045.90|ICD10:A80.9|ICD10:A80.1|MESH:D011051|ICD9:045.92|ICD9:045.9|GARD:0007413|ICD10:A80.4|NCIT:C35550|ICD10:A80|DOID:4953|EFO:0007450|UMLS:C0032371|ICD10:A80.2|ICD10:A80.3|ICD10:A80.0|Orphanet:2912|ICD9:045 owl:Class MONDO:0021358 biolink:NamedThing neoplasm of hypopharynx A neoplasm (disease) that involves the hypopharynx. tmpak2llvmy_mondo_relaxed.owl hypopharynx neoplasm|tumor of hypopharynx|hypopharyngeal neoplasm|tumor of the hypopharynx|neoplasm of hypopharynx|hypopharynx neoplasm (disease)|hypopharyngeal neoplasms|hypopharynx tumor|hypopharyngeal tumor|neoplasm of the hypopharynx SCTID:126686005|NCIT:C3127 owl:Class MONDO:0021246 biolink:NamedThing pharynx neoplasm A neoplasm (disease) that involves the pharynx. tmpak2llvmy_mondo_relaxed.owl pharynx tumor|neoplasm of pharynx|neoplasm of the pharynx|pharynx neoplasm (disease)|tumor of pharynx|pharyngeal tumor|pharyngeal neoplasms|tumor of the pharynx NCIT:C3325 owl:Class MONDO:0029140 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 18 tmpak2llvmy_mondo_relaxed.owl GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18 OMIM:618143 owl:Class MONDO:0015286 biolink:NamedThing congenital disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. tmpak2llvmy_mondo_relaxed.owl CDG|carbohydrate-deficient glycoprotein syndrome|congenital disorders of glycosylation|congenital disorder of glycosylation|carbohydrate deficient glycoprotein syndrome|carbohydrate-deficient glycoprotein syndromes ICD10:E77.8|MESH:D018981|ICD9:271.8|UMLS:C0282577|NCIT:C84615|DOID:5212|SCTID:238049009|Orphanet:137|GARD:0010307 owl:Class HGNC:8615 biolink:NamedThing PAX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004652 biolink:NamedThing bacterial pneumonia Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. tmpak2llvmy_mondo_relaxed.owl pneumonia due to other gram-negative bacteria|Bacteria pneumonia|Bacteria caused pneumonia|gram-negative pneumonia DOID:874|UMLS:C0004626|MESH:D018410|ICD10:J15.9|ICD9:482.89|EFO:1001272|ICD9:482.9|SCTID:53084003|NCIT:C26704 owl:Class GO:0001812 biolink:NamedThing positive regulation of type I hypersensitivity Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl stimulation of type I hypersensitivity|upregulation of type I hypersensitivity|up-regulation of type I hypersensitivity|activation of type I hypersensitivity|up regulation of type I hypersensitivity owl:Class GO:0002885 biolink:NamedThing positive regulation of hypersensitivity Any process that activates or increases the frequency, rate, or extent of hypersensitivity. tmpak2llvmy_mondo_relaxed.owl stimulation of hypersensitivity|activation of hypersensitivity|up regulation of hypersensitivity|upregulation of hypersensitivity|up-regulation of hypersensitivity owl:Class HP:0007556 biolink:NamedThing Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. tmpak2llvmy_mondo_relaxed.owl Plantar hyperkeratoses UMLS:C1856954 HP:0007445|HP:0007382 human_phenotype owl:Class HP:0000962 biolink:NamedThing Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:396228006|UMLS:C0870082|SNOMEDCT_US:399955009|MEDDRA:10020649|SNOMEDCT_US:26996000 HP:0007523 human_phenotype owl:Class MONDO:0011783 biolink:NamedThing ALG12-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). tmpak2llvmy_mondo_relaxed.owl CDG syndrome type Ig|congenital disorder of glycosylation type Ig|CDG1G|congenital disorder of glycosylation, type Ig|CDGIg|CDG Ig|CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|ALG12-CDG (CDG-Ig)|congenital disorder of glycosylation type 1g|CDG 1G|mannosyltransferase 8 deficiency|ALG12-congenital disorder of glycosylation|ALG12-CDG UMLS:C2931001|NCIT:C126873|MESH:C535745|DOID:0080559|OMIM:607143|Orphanet:79324|GARD:0009833|SCTID:711155008|ICD10:E77.8|ICD9:271.8 owl:Class MONDO:0005500 biolink:NamedThing congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. tmpak2llvmy_mondo_relaxed.owl ALG8-CDG|DPM2-CDG|MPDU1-CDG (CDG-1f)|MPDU1-CDG|ALG6-CDG|RFT1-CDG|ALG12-CDG|PMM2-CDG|ALG3-CDG (CDG-1d)|ALG11-CDG|DPM1-CDG (CDG-1e)|ALG9-CDG (CDG-1l)|DPAGT1-CDG|DPM3-CDG|ALG1-CDG (CDG-1k)|DPM3-CDG (CDG-1o)|DPM1-CDG|PMM2-CDG (CDG-1a)|DPAGT1-CDG (CDG-1j)|SRD5A3-CDG|ALG3-CDG|ALG2-CDG (CDG-1i)|ALG11-CDG (CDG-1p)|congenital disorders of glycosylation, type I|ALG9-CDG|ALG6-CDG (CDG-1c)|ALG2-CDG|DPM2-CDG (CDG-1u)|ALG12-CDG (CDG-1g)|DOLK-CDG|ALG8-CDG (CDG-1h)|MPI-CDG (CDG-1b)|DOLK-CDG (CDG-1m)|RFT1-CDG (CDG-1n)|SRD5A3-CDG (CDG-1q)|ALG1-CDG|MPI-CDG OMIMPS:212065|DOID:0050570|EFO:0005545 owl:Class MONDO:0005006 biolink:NamedThing clear cell sarcoma of kidney A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. tmpak2llvmy_mondo_relaxed.owl childhood clear cell sarcoma of the kidney|renal clear cell sarcoma|CCSK|clear cell sarcoma of the kidney|kidney clear cell sarcoma|pediatric renal clear cell sarcoma|clear cell sarcoma of kidney|childhood kidney clear cell sarcoma|childhood renal clear cell sarcoma|pediatric kidney clear cell sarcoma|clear cell sarcoma - kidney UMLS:C0334488|NCIT:C4264|UMLS:CN242113|ICD10:C64|DOID:4880|Orphanet:457246|ONCOTREE:CCSK|ICDO:8964/3|EFO:0000350 owl:Class MONDO:0002926 biolink:NamedThing clear cell sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. tmpak2llvmy_mondo_relaxed.owl adult soft part clear cell sarcoma|clear cell sarcoma - not kidney|clear cell sarcoma of soft parts|clear cell sarcoma of soft tissue|malignant melanoma of soft tissues|chordoid sarcoma|malignant melanoma of the soft parts|clear cell sarcoma (morphologic abnormality)|melanoma, malignant, of soft parts|malignant melanoma of soft parts|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney) ONCOTREE:CCS|ICD9:171.9|UMLS:C0206651|EFO:0008498|NCIT:C3745|MESH:D018227|SCTID:402561003|DOID:4233|ICDO:9044/3 owl:Class MONDO:0017711 biolink:NamedThing pancreatic colipase deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:C0268241|SCTID:69478001|ICD9:277.89|Orphanet:309108|ICD10:K90.3 owl:Class NCBITaxon:5151 biolink:NamedThing Ophiostomatales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:222544 biolink:NamedThing Sordariomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013362 biolink:NamedThing THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl BEAULIEU-BOYCOTT-Innes syndrome|BBIS|Beaulieu-Boycott-Innes syndrome|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations OMIM:613680|ICD10:Q87.0|Orphanet:363444|UMLS:C3150939 owl:Class MONDO:0018071 biolink:NamedThing trisomy 18 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. tmpak2llvmy_mondo_relaxed.owl trisomy type 18|chromosome 18 trisomy|trisomy 18|complete trisomy 18 syndrome|Edwards syndrome|trisomy 16-18 (formerly)|E3 trisomy|chromosome 18 duplication|18 trisomy|trisomy E (formerly) ICD10:Q91.3|SCTID:51500006|UMLS:C0152096|ICD10:Q91.0|NCIT:C36626|DOID:1085|MedDRA:10053884|GARD:0006321|ICD10:Q91.2|ICD10:Q91.1|MESH:C580500|Orphanet:3380|ICD9:758.2 owl:Class MONDO:0020051 biolink:NamedThing total autosomal trisomy tmpak2llvmy_mondo_relaxed.owl Orphanet:98131 owl:Class UBERON:0002020 biolink:NamedThing gray matter A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. tmpak2llvmy_mondo_relaxed.owl gray matter of neuraxis|gray mater|grisea|gray matter|substantia grisea|grey matter|grey matter of neuraxis|grey substance|neuronal grey matter owl:Class UBERON:0011215 biolink:NamedThing central nervous system cell part cluster A multi cell part structure that is part of a central nervous system. tmpak2llvmy_mondo_relaxed.owl neuraxis layer|cell part cluster of neuraxis owl:Class MONDO:0016305 biolink:NamedThing atypical pantothenate kinase-associated neurodegeneration tmpak2llvmy_mondo_relaxed.owl NBIA1, atypical form|PKAN, atypical form|neurodegeneration with brain iron accumulation type 1, atypical form UMLS:CN201110|Orphanet:216873|ICD10:G23.0 owl:Class MONDO:0009319 biolink:NamedThing pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. tmpak2llvmy_mondo_relaxed.owl neuroaxonal dystrophy, late infantile|neurodegeneration with brain iron accumulation 1|pantothenate kinase-associated neurodegeneration|Pkan neuroaxonal dystrophy, juvenile-onset|Hallervorden-Spatz disease|brain iron accumulation type I syndrome|PKAN|pigmentary pallidal degeneration|NBIA1|neurodegeneration with brain iron accumulation type 1|Hallervorden-Spatz syndrome MESH:D006211|DOID:3981|NCIT:C84988|Orphanet:157850|SCTID:2992000|ICD10:G23.0|UMLS:C0018523|GARD:0006564|ICD9:333.0|OMIM:234200 owl:Class GO:0090153 biolink:NamedThing regulation of sphingolipid biosynthetic process Any process that modulates the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044087 biolink:NamedThing regulation of cellular component biogenesis Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002515 biolink:NamedThing hepatobiliary disease A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. tmpak2llvmy_mondo_relaxed.owl disorder of hepatobiliary system|disease or disorder of hepatobiliary system|liver and biliary tract disease|hepatobiliary system disease|hepatobiliary system disease or disorder|liver and biliary disorder|liver and biliary disease|hepatobiliary disorder|liver and biliary system disorder|disease of hepatobiliary system NCIT:C3959|DOID:3118|UMLS:C0267792 owl:Class HGNC:10887 biolink:NamedThing SIX1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051716 biolink:NamedThing cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050896 biolink:NamedThing response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. tmpak2llvmy_mondo_relaxed.owl physiological response to stimulus owl:Class NCIT:C36862 biolink:NamedThing Neoplastic Melanocyte tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C12922 biolink:NamedThing Neoplastic Cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017834 biolink:NamedThing secondary hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl secondary HES|HES-R|reactive hypereosinophilic syndrome ICD10:D47.5|UMLS:CN203809|Orphanet:314962 owl:Class NCBITaxon:641 biolink:NamedThing Vibrionaceae tmpak2llvmy_mondo_relaxed.owl gamma-3 proteobacteria GC_ID:11|PMID:8427811|PMID:15143042|PMID:4954820 ncbi_taxonomy owl:Class NCBITaxon:135623 biolink:NamedThing Vibrionales tmpak2llvmy_mondo_relaxed.owl 'Vibrionales'|Vibrionaceae group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0035357 biolink:NamedThing portosinusoidal vascular disease tmpak2llvmy_mondo_relaxed.owl PSVD ICD10:K76.8|Orphanet:596937 owl:Class MONDO:0001246 biolink:NamedThing typhus A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. tmpak2llvmy_mondo_relaxed.owl classical typhus|epidemic louse-borne typhus fever due to Rickettsia prowazekii|flea typhus|epidemic (louse-borne) typhus|Mexican typhus|jail fever|endemic flea-borne typhus|petechial fever|rat flea typhus|louse-borne typhus|flea-borne typhus|typhus-group rickettsiae disease|exanthematous typhus|typhus fever|epidemic louse-borne typhus|classical typhus (fever)|typhus exanthematique|European typhus|exanthematic typhus fever|ship fever|prison fever|typhus-group rickettsiosis|flea-borne rickettsiosis|famine fever|murine typhus|louse-borne [epidemic] typhus|Urban typhus|endemic typhus fever|shop typhus|hospital fever|murine [endemic] typhus|Moscow typhus|louse-borne rickettsiosis ICD10:A75.0|UMLS:C0041471|UMLS:C0041472|SCTID:240613006|ICD9:080|ICD9:081.9|GARD:0007833|ICD9:081.0|ICD10:A75|Orphanet:102023|ICD10:A75.3|ICD10:A75.9|ICD10:A75.2|ICD10:A75.1|DOID:11256 owl:Class MONDO:0006927 biolink:NamedThing Rickettsiaceae infectious disease Infections with bacteria of the family rickettsiaceae. tmpak2llvmy_mondo_relaxed.owl Rickettsiaceae caused disease or disorder|rickettsialpox|infection, Rickettsiaceae|Rickettsiaceae disease or disorder|Rickettsiaceae infection|infections, Rickettsiaceae MESH:D012288|EFO:1001128 owl:Class UBERON:0003481 biolink:NamedThing tail vein A vein that is part of a tail [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vein of post-vent region|caudal vein|vein of tail|post-vent region vein owl:Class UBERON:0001638 biolink:NamedThing vein Any of the tubular branching vessels that carry blood from the capillaries toward the heart. tmpak2llvmy_mondo_relaxed.owl vascular element|venous vessel|venous tree organ part|venae|vena|venous subtree owl:Class UBERON:0003836 biolink:NamedThing abdominal segment skin A skin of body that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of abdominal segment of trunk|abdominal segment of trunk skin owl:Class MONDO:0006704 biolink:NamedThing CNS demyelinating autoimmune disease Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. tmpak2llvmy_mondo_relaxed.owl EFO:1000870|MESH:D020278 owl:Class MONDO:0007179 biolink:NamedThing autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). tmpak2llvmy_mondo_relaxed.owl hypersensitivity reaction type II disease|autoimmune disease|autoimmune disease or disorder|autoimmune hypersensitivity disease|disease, autoimmune|autoimmune disorder SCTID:85828009|DOID:417|UMLS:C0004364|ICD9:279.4|NCIT:C2889|EFO:0005140|OBI:1110054|OMIM:109100|MESH:D001327|ICD9:720|ICD9:279.49 Editor note: check OMIM owl:Class UBERON:0015009 biolink:NamedThing lumbar vertebra endochondral element A lumbar vertebra bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl lumbar vertebra element|lumbar vertebra skeletal element owl:Class UBERON:0005174 biolink:NamedThing dorsal region element An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. tmpak2llvmy_mondo_relaxed.owl dorsal region organ|back organ owl:Class UBERON:5103635 biolink:NamedThing pedal digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 5 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl pedal digit 5 skeleton|pedal digit 5|pedal digit V digitopodial skeleton owl:Class UBERON:5106052 biolink:NamedThing digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 5 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl digit 5|digit V digitopodial skeleton|digit 5 skeleton owl:Class NCBITaxon:41665 biolink:NamedThing Neopterygii tmpak2llvmy_mondo_relaxed.owl Neopterygi GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186623 biolink:NamedThing Actinopteri tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003101 biolink:NamedThing male organism Gonochoristic organism that can produce male gametes. tmpak2llvmy_mondo_relaxed.owl male human body|male owl:Class GO:0034650 biolink:NamedThing cortisol metabolic process The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpak2llvmy_mondo_relaxed.owl cortisol metabolism owl:Class GO:1902644 biolink:NamedThing tertiary alcohol metabolic process The chemical reactions and pathways involving tertiary alcohol. tmpak2llvmy_mondo_relaxed.owl tertiary alcohol metabolism owl:Class HGNC:9896 biolink:NamedThing RBM10 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003530 biolink:NamedThing pedal digit skin A zone of skin that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of foot digit|skin of digit of terminal segment of free lower limb|digitus pedis skin|toe skin|digit of foot skin|hind limb digit skin|terminal segment of free lower limb digit skin|skin of terminal segment of free lower limb digit|foot digit skin|skin of toe|digit of terminal segment of free lower limb skin|skin of digitus pedis|skin of digit of foot owl:Class UBERON:0005040 biolink:NamedThing mucosa of terminal bronchiole A mucosa that is part of a terminal bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiolus terminalis organ mucosa|organ mucosa of bronchiolus terminalis|mucous membrane of bronchiolus terminalis|terminal bronchiole mucosa of organ|mucosa of organ of terminal bronchiole|organ mucosa of terminal bronchiole|bronchiolus terminalis mucosa|mucosa of bronchiolus terminalis|terminal bronchiole organ mucosa|bronchiolus terminalis mucous membrane|mucous membrane of terminal bronchiole|terminal bronchiole mucosa|terminal bronchiole mucous membrane|bronchiolus terminalis mucosa of organ|mucosa of organ of bronchiolus terminalis owl:Class GO:0060452 biolink:NamedThing positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001080 biolink:NamedThing acute gonococcal cervicitis Acute form of gonococcal cervicitis. tmpak2llvmy_mondo_relaxed.owl acute gonorrhea of cervix|gonococcal cervicitis, acute|gonococcal cervicitis (acute) UMLS:C0153195|ICD9:098.15|SCTID:20943002|DOID:10615 owl:Class MONDO:0021157 biolink:NamedThing gonococcal cervicitis tmpak2llvmy_mondo_relaxed.owl gonorrhea of uterine cervix|gonorrhea of cervix SCTID:237083000|UMLS:C0812378 owl:Class MONDO:0011988 biolink:NamedThing neutrophil immunodeficiency syndrome A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. tmpak2llvmy_mondo_relaxed.owl neutrophil immunodeficiency syndrome UMLS:C1842398|OMIM:608203|MESH:C564275|Orphanet:183707|ICD10:D71|SCTID:723443003 owl:Class HGNC:2623 biolink:NamedThing CYP2C9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019838 biolink:NamedThing adenohypophysitis An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. tmpak2llvmy_mondo_relaxed.owl lymphocytic adenohypophysitis|adenohypophysis inflammation|anterior pituitary hypophysitis|inflammation of adenohypophysis Orphanet:95512|ICD10:E23.6 owl:Class CL:1000143 biolink:NamedThing lung goblet cell tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000272 biolink:NamedThing lung secretory cell tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0025127 biolink:NamedThing primordium A portion of meristem tissue (PO:0009013) that has as parts protoderm (PO:0006210) and sub-epidermal meristematic tissue and is committed to the development of a particular plant structure (PO:0009011). tmpak2llvmy_mondo_relaxed.owl 原基（可視的） (Japanese, exact)|primordia (exact, plural)|primordio (Spanish, exact)|portion of primordial tissue (exact)|portion of primordium tissue (exact) PO_GIT:186 A primordium appears as a protrusion and is the first distinct form of a plant organ (PO:0009008), cardinal organ part (PO:0025001), or collective plant organ structure (PO:0025007). The transition from a primordium to the plant structure it develops into is marked by the development of non-meristematic cells, although meristematic cells may be present after the transition. rwalls 2010-11-15T09:10:22Z plant_anatomy owl:Class PO:0009013 biolink:NamedThing portion of meristem tissue A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth. tmpak2llvmy_mondo_relaxed.owl meristema (Spanish, exact)|meristem (exact)|meristematic tissue (exact)|分裂組織 (Japanese, exact) PO_GIT:472 plant_anatomy owl:Class MONDO:0044879 biolink:NamedThing pancreatic mucinous-cystic neoplasm A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. tmpak2llvmy_mondo_relaxed.owl Pancreatic mucinous cystic neoplasm|mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm ONCOTREE:MCN|NCIT:C41247 owl:Class MONDO:0044880 biolink:NamedThing cystic tumor of the pancreas tmpak2llvmy_mondo_relaxed.owl ONCOTREE:PACT owl:Class MONDO:0016326 biolink:NamedThing lysosomal disease with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201159|Orphanet:217581 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class CL:0002489 biolink:NamedThing double negative thymocyte A thymocyte that lacks expression of CD4 and CD8. tmpak2llvmy_mondo_relaxed.owl CD4-CD8- T cell|double negative T cell These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. tmeehan 2010-12-06T03:03:38Z cell owl:Class ECTO:0000515 biolink:NamedThing exposure to herbicide An exposure to herbicide. tmpak2llvmy_mondo_relaxed.owl exposure to herbicide owl:Class GO:0014052 biolink:NamedThing regulation of gamma-aminobutyric acid secretion Any process that modulates the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpak2llvmy_mondo_relaxed.owl regulation of GABA secretion owl:Class MONDO:0002323 biolink:NamedThing cherry hemangioma A capillary hemangioma of the skin, presenting as a red papular lesion. tmpak2llvmy_mondo_relaxed.owl Senile hemangioma|cherry hemangioma|Senile naevus of skin|Senile angioma|cherry angioma DOID:2495|NCIT:C4390|UMLS:C0343082|SCTID:5050001 owl:Class MONDO:0003110 biolink:NamedThing skin hemangioma A hemangioma arising from the skin. tmpak2llvmy_mondo_relaxed.owl hemangioma of skin|angiomatous naevus of skin|skin angioma|zone of skin hemangioma|hemangioma of zone of skin|angioma of the skin|angioma of skin|skin hemangioma|hemangioma of the skin DOID:471|NCIT:C4905|UMLS:C0687140|SCTID:93471006 owl:Class MONDO:0005537 biolink:NamedThing perianal Crohn disease An Crohn disease involving a pathogenic inflammatory response in the anal canal. tmpak2llvmy_mondo_relaxed.owl perianal Crohn's disease EFO:0005627|UMLS:C0341395|SCTID:235796008 owl:Class MONDO:0005011 biolink:NamedThing Crohn disease A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. tmpak2llvmy_mondo_relaxed.owl Crohn's disease of colon|Crohn disease|regional enteritis|pediatric Crohn's disease|Crohn's disease of large bowel|granulomatous colitis|Crohn's disease DOID:8778|UMLS:CN043071|ICD10:K50.1|NCIT:C2965|EFO:0000384|SCTID:7620006|ICD9:555.1 owl:Class MONDO:0010553 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined UMLS:C1844863|MESH:C564446|OMIM:302900 owl:Class UBERON:0003654 biolink:NamedThing metatarsal bone of digit 5 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 5. tmpak2llvmy_mondo_relaxed.owl metatarsal V|metatarsal bone of digit V|metatarsal 5|fifth metatarsal bone|toe 5 metatarsus|metatarsal bone of foot digit 5|hindlimb digit 5 metatarsus|metatarsal bone digit 5|foot digit 5 metatarsal bone|toe 5 metatarsal owl:Class UBERON:0001448 biolink:NamedThing metatarsal bone The metatarsus or metatarsal bones are a group of five long bones in the pes located between the tarsal bones of the hind- and mid-pes and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side (side of big toe): the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the metacarpal bones of the manus. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl metatarsal|ossa metatarsi|ossa metatarsalia owl:Class MONDO:0005230 biolink:NamedThing cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. tmpak2llvmy_mondo_relaxed.owl cellulitis (disease)|cellulitis cellulitis (disease) ICD9:682.9|ICD9:682.8|HP:0100658|SCTID:128045006|MESH:D002481|NCIT:C26715|Wikipedia:Cellulitis|DOID:3488|ICD10:L03.90|EFO:0003035 owl:Class GO:0042127 biolink:NamedThing regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation. tmpak2llvmy_mondo_relaxed.owl regulation of cell proliferation owl:Class CHEBI:33241 biolink:NamedThing oxoacid derivative tmpak2llvmy_mondo_relaxed.owl oxoacid derivatives owl:Class HGNC:1754 biolink:NamedThing CDH15 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:12663 biolink:NamedThing Feline coronavirus tmpak2llvmy_mondo_relaxed.owl Feline enteric coronavirus|FECV|Feline enteric coronavirus FECV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:693997 biolink:NamedThing Alphacoronavirus 1 tmpak2llvmy_mondo_relaxed.owl Alphacoronavirus-1 GC_ID:1 ncbi_taxonomy owl:Class CL:0000162 biolink:NamedThing parietal cell A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl. tmpak2llvmy_mondo_relaxed.owl oxyntic cell FMA:62901|BTO:0001780 cell owl:Class CL:0000161 biolink:NamedThing acid secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class HsapDv:0000120 biolink:NamedThing 26-year-old human stage Adult stage that refers to an adultwho is over 26 and under 27. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033684 biolink:NamedThing regulation of luteinizing hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of luteinizing hormone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005076 biolink:NamedThing periodontitis An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. tmpak2llvmy_mondo_relaxed.owl periodontium inflammation|chronic pericementitis|inflammation of periodontium|periodontosis ICD9:523.5|UMLS:C0600298|DOID:9893|SCTID:41565005|UMLS:C0031099|ICD10:K05.4|DOID:824|ICD10:K05.3|MESH:D010518|EFO:0000649|NCIT:C34918 MONDO:0004915 owl:Class MONDO:0002635 biolink:NamedThing periodontal disease An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. tmpak2llvmy_mondo_relaxed.owl periodontium disease|periodontium disorder|periodontium disease or disorder|disease of supporting structures of teeth|disease of periodontium|disease or disorder of periodontium|periodontal disease|disorder of periodontium|periodontal disorder UMLS:C0031090|ICD9:523.8|ICD10:K05.6|MESH:D010510|NCIT:C63743|SCTID:2556008|DOID:3388 owl:Class HGNC:5973 biolink:NamedThing IL13 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002089 biolink:NamedThing lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpak2llvmy_mondo_relaxed.owl lens morphogenesis in camera-style eye|lens morphogenesis owl:Class GO:0009653 biolink:NamedThing anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. tmpak2llvmy_mondo_relaxed.owl embryogenesis and morphogenesis|anatomical structure organization|morphogenesis owl:Class MONDO:0012150 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 2|Adhd2|attention Deficit-hyperactivity disorder, susceptibility to, type 2 OMIM:608904 owl:Class MONDO:0017041 biolink:NamedThing osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. tmpak2llvmy_mondo_relaxed.owl Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome UMLS:CN202358|SCTID:722108000|Orphanet:2653 owl:Class MONDO:0020240 biolink:NamedThing syndromic retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic retinitis pigmentosa|syndrome associated with retinitis pigmentosa UMLS:CN227834|Orphanet:98661 owl:Class MONDO:0017350 biolink:NamedThing inborn disorder of tryptophan metabolism An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of tryptophan metabolic process|inborn tryptophan metabolic process disorder|disorder of tryptophan metabolism|inborn error of tryptophan metabolic process SCTID:5181007|ICD9:270.2|Orphanet:289829|UMLS:CN203012|ICD10:E70.8 owl:Class UBERON:0001700 biolink:NamedThing geniculate ganglion the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve) tmpak2llvmy_mondo_relaxed.owl geniculate ganglion|ganglion geniculi|genicular ganglion|geniculate|internal genu|ganglion geniculi nervi facialis|facial VII ganglion|facial ganglion|ganglion genicularum|gVII owl:Class UBERON:0001800 biolink:NamedThing sensory ganglion The clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells. tmpak2llvmy_mondo_relaxed.owl ganglion sensorium owl:Class UBERON:0016879 biolink:NamedThing future central nervous system Primordium that develops into the central nervous system tmpak2llvmy_mondo_relaxed.owl presumptive central nervous system|future CNS owl:Class UBERON:0006598 biolink:NamedThing presumptive structure Portion of embryonic tissue determined by fate mapping to become a structure. tmpak2llvmy_mondo_relaxed.owl future structure|presumptive structures owl:Class MONDO:0005800 biolink:NamedThing hordeolum An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. tmpak2llvmy_mondo_relaxed.owl furuncle of eyelid|blepharitis of eyelid gland|eyelid gland blepharitis|boil of eyelid|Stye EFO:0007315|MESH:D006726|NCIT:C118722|SCTID:397513003|DOID:9909|ICD10:H00.01|UMLS:C0019917 owl:Class MONDO:0005545 biolink:NamedThing staphylococcus aureus infection An infectious process in which the bacteria Staphylococcus aureus is present. tmpak2llvmy_mondo_relaxed.owl SCTID:406602003|NCIT:C122576|EFO:0005681 owl:Class MONDO:0014020 biolink:NamedThing hereditary spastic paraplegia 55 tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 55|autosomal recessive spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|spastic paraplegia 55, autosomal recessive|SPG55 Orphanet:320375|ICD10:G11.4|DOID:0110807|UMLS:C3539506|UMLS:C4510214|OMIM:615035|SCTID:723825006 owl:Class MONDO:0018043 biolink:NamedThing Thomas syndrome Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Potter sequence-cleft lip/palate-cardiopathy syndrome UMLS:C2931225|Orphanet:3316|MESH:C536514|SCTID:716740009|GARD:0005175|ICD10:Q87.8 owl:Class HP:0001618 biolink:NamedThing Dysphonia An impairment in the ability to produce voice sounds. tmpak2llvmy_mondo_relaxed.owl Inability to produce voice sounds|Voice change UMLS:C1527344|MSH:D055154|SNOMEDCT_US:47004009 human_phenotype owl:Class HP:0002167 biolink:NamedThing Neurological speech impairment tmpak2llvmy_mondo_relaxed.owl Speech impediment|Speech disorder|Speech impairment UMLS:C0037822|MSH:D013064 human_phenotype owl:Class MONDO:0007819 biolink:NamedThing solitary median maxillary central incisor syndrome A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. tmpak2llvmy_mondo_relaxed.owl SMMCI|SMMCI syndrome|single central maxillary incisor|incisors, Fused|Fused incisors|solitary MEDIAN maxillary central incisor|incisors fused|single upper central incisor|solitary median maxillary central incisor syndrome ICD10:K00.2|OMIM:147250|GARD:0004877|Orphanet:2286|SCTID:707609006|MESH:C537342 owl:Class UBERON:0004989 biolink:NamedThing mucosa of appendix A mucosa that is part of an appendix [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of caecal appendix|mucosa of vermix|organ mucosa of vermix|mucosa of vermiform appendix|mucosa of caecal appendix|appendix organ mucosa|appendix mucosa|mucosa of organ of vermiform appendix|appendix mucous membrane|vermiform appendix mucous membrane|mucosa of organ of caecal appendix|appendiceal mucous membrane|vermix organ mucosa|vermix mucosa|mucous membrane of vermiform appendix|vermix mucous membrane|mucous membrane of vermix|organ mucosa of vermiform appendix|mucosa of organ of appendix|appendix mucosa of organ|organ mucosa of appendix|caecal appendix mucous membrane|caecal appendix organ mucosa|mucous membrane of caecal appendix|vermiform appendix mucosa|vermiform appendix mucosa of organ|vermix mucosa of organ|vermiform appendix organ mucosa|mucous membrane of appendix|mucosa of organ of vermix|caecal appendix mucosa|caecal appendix mucosa of organ owl:Class UBERON:0001207 biolink:NamedThing mucosa of large intestine A mucosa that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine mucous membrane|large intestine organ mucosa|large intestinal mucosa|organ mucosa of large intestine|mucous membrane of large intestine|large intestine mucosa|mucosa of organ of large intestine|tunica mucosa intestini crassi|large intestine mucosa of organ owl:Class MONDO:0016765 biolink:NamedThing 19p13.12 microdeletion syndrome 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl monosomy 19p13.12|Del(19)(p13.12)|Chromosome19p13.12 microdeletion UMLS:C4304579|UMLS:CN202023|Orphanet:254346|ICD10:Q93.5|GARD:0010991|SCTID:719597005 https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome owl:Class MONDO:0016897 biolink:NamedThing partial deletion of the short arm of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial deletion of the short arm of chromosome type 19|partial monosomy of chromosome 19p|partial deletion of chromosome 19p|partial monosomy of the short arm of chromosome 19 Orphanet:261983|ICD10:Q93.5 owl:Class MONDO:0017927 biolink:NamedThing severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. tmpak2llvmy_mondo_relaxed.owl UMLS:CN204066|Orphanet:324307|SCTID:766819001|ICD10:Q68.4 owl:Class MONDO:0019698 biolink:NamedThing bent bone dysplasia tmpak2llvmy_mondo_relaxed.owl campomelic dysplasia and related disorders SCTID:254095002|Orphanet:93439|UMLS:C0432238|ICD9:756.59 owl:Class MONDO:0012621 biolink:NamedThing deafness-infertility syndrome Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. tmpak2llvmy_mondo_relaxed.owl sensorineural deafness and male infertility|chromosome 15Q15.3 deletion syndrome|dis|deafness, sensorineural, and Male infertility|deafness-infertility syndrome OMIM:611102|Orphanet:94064|GARD:0011911|MESH:C567010|ICD9:758.39|ICD10:Q93.5|SCTID:700489002 https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome owl:Class FOODON:00001257 biolink:NamedThing milk or milk based food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001256 biolink:NamedThing dairy food product A dairy food product has mammilian milk or a milk component as an ingredient. tmpak2llvmy_mondo_relaxed.owl dairy product|milk product http://www.langual.org/langual_thesaurus.asp?termid=H0242 Damion Dooley owl:Class MONDO:0013599 biolink:NamedThing autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 31C|candidiasis familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|candidiasis familial, 7|familial chronic mucocutaneous, autosomal dominant|immunodeficiency 31C|candidiasis, familial chronic mucocutaneous, autosomal dominant|IMD31C|CANDF7 GARD:0012314|ICD10:K63.9|OMIM:614162|Orphanet:391487|UMLS:C3279990 owl:Class MONDO:0019787 biolink:NamedThing autoimmune enteropathy Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. tmpak2llvmy_mondo_relaxed.owl severe immune-mediated enteropathy|immune-mediated protracted diarrhea of infancy MESH:C538273|UMLS:C0341305|NCIT:C94694|ICD9:279.49|SCTID:235728001|Orphanet:94075|GARD:0008689 owl:Class MONDO:0007048 biolink:NamedThing acrokeratosis verruciformis A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. tmpak2llvmy_mondo_relaxed.owl Hopf disease|acrokeratosis verruciformis of Hopf|AKV of Hopf|AKV|acrokeratosis verruciformis EFO:1000666|Orphanet:79151|OMIM:101900|MedDRA:10069445|DOID:0050606|NCIT:C27519|SCTID:400085009|ICD9:757.39|ICD10:Q82.8|UMLS:C0265971 owl:Class MONDO:0006566 biolink:NamedThing keratosis A skin disorder consisting of hypertrophy of the stratum corneum of the skin. tmpak2llvmy_mondo_relaxed.owl keratoderma NCIT:C34745|MESH:D007642|DOID:161|UMLS:C0022593|SCTID:254666005|EFO:1000720 owl:Class UBERON:0010700 biolink:NamedThing phalanx pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010882 biolink:NamedThing limb bone pre-cartilage condensation A skeletal element that is part of a limb and composed of pre-cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012140 biolink:NamedThing digitopodium region A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. tmpak2llvmy_mondo_relaxed.owl acropodium (Wagner) owl:Class UBERON:0012139 biolink:NamedThing segment of autopod tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014511 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2S Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth neuropathy type 2S|CMT2S|Charcot-Marie-Tooth neuropathy, type 2S|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|Charcot-Marie-Tooth disease type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 UMLS:C4015349|DOID:0110171|ICD10:G60.0|Orphanet:443073|OMIM:616155 owl:Class MONDO:0015626 biolink:NamedThing Charcot-Marie-Tooth disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. tmpak2llvmy_mondo_relaxed.owl peroneal muscular atrophy|Charcot-Marie-Tooth hereditary neuropathy|Charcot Marie Tooth muscular atrophy|CMT - Charcot-Marie-Tooth disease|CMT|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|CMT/HMSN|hereditary sensorimotor neuropathy|Charcot-Marie-Tooth disease|Charcot Marie Tooth disease|hereditary motor and sensory neuropathy NCIT:C75467|ICD9:356.1|MedDRA:10034699|OMIMPS:118220|MESH:D002607|ICD10:G60.0|Orphanet:166|GARD:0006034|DOID:10595|UMLS:C0007959 owl:Class UBERON:0004691 biolink:NamedThing bulbourethral gland secretion A bodily secretion that is produced by a bulbourethral gland. tmpak2llvmy_mondo_relaxed.owl bulbo-urethral gland secretion|secretion of bulbo-urethral gland|pre-ejaculate owl:Class UBERON:0006530 biolink:NamedThing seminal fluid A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended. tmpak2llvmy_mondo_relaxed.owl seminal plasma|seminal fluid|male genital fluid|male genital secretion owl:Class MONDO:0100239 biolink:NamedThing inherited hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary hypertrophic pyloric stenosis OMIMPS:179010 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014873 biolink:NamedThing nevus comedonicus syndrome A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. tmpak2llvmy_mondo_relaxed.owl pilosebaceous nevoid disorder|NC|NEVUS comedonicus|comedo Nevus|acne Nevus|Nevus comedonicus|acneiform Nevus SCTID:35962006|ICD10:Q82.5|OMIM:617025|NCIT:C3946|GARD:0013073|Orphanet:64754|UMLS:C0265987 owl:Class CHEBI:35618 biolink:NamedThing aromatic ether Any ether in which the oxygen is attached to at least one aryl substituent. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25698 biolink:NamedThing ether An organooxygen compound with formula ROR, where R is not hydrogen. tmpak2llvmy_mondo_relaxed.owl ethers|ether owl:Class MONDO:0000648 biolink:NamedThing nervous system benign neoplasm Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the nervous system|benign tumor of nervous system|benign tumor of the nervous system|benign nervous system tumor|nervous system benign neoplasm|benign neoplasm of nervous system|nervous system neoplasm, benign|benign nervous system neoplasm NCIT:C4789|DOID:0060115|ICD9:225.8|UMLS:C0497550|SCTID:92247009|ICD9:225.9 owl:Class MONDO:0021248 biolink:NamedThing nervous system neoplasm A neoplasm (disease) that involves the nervous system. tmpak2llvmy_mondo_relaxed.owl neoplasm of nervous system|nervous system neoplasms|neoplasm of the nervous system|nervous system tumor|tumor of the nervous system|nervous system neoplasm (disease)|tumor of nervous system|nervous system tumour NCIT:C3268 owl:Class GO:1903379 biolink:NamedThing regulation of mitotic chromosome condensation Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060623 biolink:NamedThing regulation of chromosome condensation Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009199 biolink:NamedThing facial suture Any suture between facial bones. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009198 biolink:NamedThing craniofacial suture Any suture between cranial and/or facial bones. tmpak2llvmy_mondo_relaxed.owl articulation of skull bones|joint of the skull bones owl:Class UBERON:2001431 biolink:NamedThing primitive olfactory epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019336 biolink:NamedThing Gardner syndrome Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. tmpak2llvmy_mondo_relaxed.owl polyposis coli and multiple hard and soft tissue tumors|Gardner's syndrome|intestinal polyposis, osteomas, sebaceous cysts|Gardner syndrome SCTID:60876000|ICD10:D12.6|ICD9:759.89|UMLS:C0017097|GARD:0006482|NCIT:C6728|Orphanet:79665|MESH:D005736|MedDRA:10017727 owl:Class MONDO:0020273 biolink:NamedThing disease with potential neoplastic degeneration associated with ocular features tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98703|UMLS:CN207078 Reason: out of scope. This is obsolete in Orphanet and out of scope for Mondo.Term to consider: eye neoplasm' MONDO_0021220 owl:Class MONDO:0005671 biolink:NamedThing Blastocystis infectious disease Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. tmpak2llvmy_mondo_relaxed.owl infection, Blastocystis|Blastocystis infection|infections, Blastocystis MESH:D016776|SCTID:721809007|EFO:0007173 owl:Class MONDO:0005644 biolink:NamedThing amebiasis A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. tmpak2llvmy_mondo_relaxed.owl amoebiasis|chronic intestinal amebiasis|entamoebiasis ICD10:A06|ICD9:006.9|ICD9:006|MESH:D000562|EFO:0007144|UMLS:C0002438|NCIT:C84551|DOID:9181|ICD10:A06.9 owl:Class UBERON:0018667 biolink:NamedThing neck of scapula tmpak2llvmy_mondo_relaxed.owl anatomical neck of scapula|scapular neck owl:Class UBERON:0018664 biolink:NamedThing neck of bone element the neck region of a bone organ. tmpak2llvmy_mondo_relaxed.owl neck of bone|bone neck owl:Class MONDO:0005433 biolink:NamedThing alcohol withdrawal tmpak2llvmy_mondo_relaxed.owl alcohol withdrawal syndrome UMLS:C0236663|EFO:0004777|SCTID:191480000|ICD9:291.81 owl:Class MONDO:0005567 biolink:NamedThing substance withdrawal syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. tmpak2llvmy_mondo_relaxed.owl withdrawal syndrome|drug withdrawal syndrome|substance withdrawal syndrome|substance withdrawal|substance withdrawal disorder|drug withdrawal|withdrawal disorder UMLS:C0152128|MESH:D013375|ICD9:292.0|NCIT:C35046|DOID:0060001|EFO:0005800|SCTID:363101005 owl:Class MONDO:0005989 biolink:NamedThing toxoplasmosis A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. tmpak2llvmy_mondo_relaxed.owl Toxoplasma gondii caused disease or disorder|disseminated toxoplasmosis|Toxoplasma gondii infectious disease|Toxoplasma gondii disease or disorder SCTID:187192000|ICD10:B58|ICD9:130.7|MESH:D014123|DOID:9965|ICD9:130.9|NCIT:C3418|ICD9:130|UMLS:C0040558|EFO:0007517|ICD10:B58.9 owl:Class MONDO:0016893 biolink:NamedThing partial deletion of the short arm of chromosome 11 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 11p|partial monosomy of the short arm of chromosome 11|partial deletion of chromosome 11p|partial deletion of the short arm of chromosome type 11 Orphanet:261947|ICD10:Q93.5 owl:Class MONDO:0016876 biolink:NamedThing partial deletion of chromosome 11 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 11|partial deletion of chromosome type 11 Orphanet:261816|ICD10:Q93.5 owl:Class MONDO:0012204 biolink:NamedThing familial pseudohyperkalemia An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. tmpak2llvmy_mondo_relaxed.owl pseudohyperkalemia East London|PSHK2|pseudohyperkalemia, familial, 2, due to red cell leak|cryohydrocytosis, mild|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|pseudohyperkalemia Lille UMLS:C1836705|Orphanet:90044|MESH:C563785|ICD10:D58.8|UMLS:C4273970|OMIM:609153|SCTID:717254007 owl:Class MONDO:0020102 biolink:NamedThing hereditary stomatocytosis tmpak2llvmy_mondo_relaxed.owl hereditary stomatocytic disease UMLS:C1262483|ICD10:D58.8|ICD9:282.8|Orphanet:98365|SCTID:14087004 owl:Class MONDO:0030982 biolink:NamedThing sulfide quinone oxidoreductase deficiency tmpak2llvmy_mondo_relaxed.owl SQORD|sulfide:quinone oxidoreductase deficiency OMIM:619221 owl:Class MONDO:0004749 biolink:NamedThing myocardium cancer A malignant neoplasm involving the myocardium. tmpak2llvmy_mondo_relaxed.owl malignant myocardial neoplasm|malignant tumor of the myocardium|cancer of myocardium|malignant tumor of myocardium|malignant myocardial tumor|malignant neoplasm of the myocardium|myocardium cancer|malignant neoplasm of myocardium|tumor of myocardium|malignant myocardium neoplasm DOID:9299|UMLS:C0346611|NCIT:C4569 owl:Class MONDO:0000637 biolink:NamedThing musculoskeletal system cancer A malignant neoplasm involving the musculoskeletal system tmpak2llvmy_mondo_relaxed.owl malignant musculoskeletal system neoplasm|cancer of musculoskeletal system|malignant neoplasm of musculoskeletal system|skeletal system cancer|musculoskeletal system cancer DOID:0060100 owl:Class CL:0000529 biolink:NamedThing pigmented epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0001530 biolink:NamedThing common carotid artery plus branches A bilaterally paired branched artery that originates from the aortic arches and divides into and includes as parts the internal and external carotid arteries[cjm]. tmpak2llvmy_mondo_relaxed.owl common carotid artery|a. carotis communis|carotid artery system|carotid artery|trunk of common carotid tree owl:Class MONDO:0000346 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type tmpak2llvmy_mondo_relaxed.owl Balkan hemorrhagic fever DOID:0050522 owl:Class GO:0044273 biolink:NamedThing sulfur compound catabolic process The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpak2llvmy_mondo_relaxed.owl sulfur catabolism|sulfur compound catabolism|sulfur catabolic process|sulfur compound degradation|sulfur compound breakdown owl:Class GO:0006790 biolink:NamedThing sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpak2llvmy_mondo_relaxed.owl sulphur metabolic process|sulphur metabolism|sulfur metabolism owl:Class MONDO:0054701 biolink:NamedThing Kleefstra syndrome 2 tmpak2llvmy_mondo_relaxed.owl Kleefstra syndrome 2|KLEFS2 DOID:0080598|OMIM:617768 owl:Class MONDO:0012455 biolink:NamedThing Kleefstra syndrome A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. tmpak2llvmy_mondo_relaxed.owl Kleefstra syndrome|chromosome 9Q34.3 deletion syndrome|9Q- syndrome|chromosome 9q deletion syndrome|9q34 deletion syndrome|9q-syndrome|9Q subtelomeric deletion syndrome|9q34.3 microdeletion syndrome DOID:0060352|GARD:0008672|Orphanet:261494|ICD10:Q87.8|OMIMPS:610253 https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome owl:Class GO:0090316 biolink:NamedThing positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051222 biolink:NamedThing positive regulation of protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl activation of protein transport|stimulation of protein transport|up-regulation of protein transport|upregulation of protein transport|up regulation of protein transport owl:Class MONDO:0022034 biolink:NamedThing lentivirus infection Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. tmpak2llvmy_mondo_relaxed.owl Disease caused by Lentivirus|Lentivirus Infection|Infections, Lentivirus|Disease due to Lentivirus|Infection, Lentivirus|Lentivirus Infections UMLS:C0079680|MESH:D016180|EFO:1001357 owl:Class HGNC:237 biolink:NamedThing ADCY6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004060 biolink:NamedThing peripheral epithelioid sarcoma An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. tmpak2llvmy_mondo_relaxed.owl conventional epithelioid sarcoma|distal-type epithelioid sarcoma UMLS:C1333306|DOID:6988|NCIT:C27473 owl:Class MONDO:0017387 biolink:NamedThing epithelioid sarcoma An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). tmpak2llvmy_mondo_relaxed.owl ES|epithelioid cell sarcoma|epithelioid sarcoma ICDO:8804/3|UMLS:C0205944|NCIT:C3714|MedDRA:10015099|ONCOTREE:EPIS|ICD10:C49.9|Orphanet:293202|DOID:6193|GARD:0010181 https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma owl:Class GO:0014064 biolink:NamedThing positive regulation of serotonin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. tmpak2llvmy_mondo_relaxed.owl activation of serotonin secretion|upregulation of serotonin secretion|stimulation of serotonin secretion|positive regulation of serotonin release|up-regulation of serotonin secretion|up regulation of serotonin secretion owl:Class UBERON:0005316 biolink:NamedThing endocardial endothelium The endothelial lining of the endocardium. tmpak2llvmy_mondo_relaxed.owl endocardium endothelium|endothelium of endocardium owl:Class UBERON:0001986 biolink:NamedThing endothelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12559 biolink:NamedThing UMOD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010507 biolink:NamedThing Xq25 microduplication syndrome tmpak2llvmy_mondo_relaxed.owl Xq25 triplication syndrome UMLS:C4311049|OMIM:300979|Orphanet:521258 owl:Class MONDO:0054696 biolink:NamedThing immunodeficiency 53 tmpak2llvmy_mondo_relaxed.owl immunodeficiency 53|IMD53 UMLS:C4539811|OMIM:617585 owl:Class MONDO:0021094 biolink:NamedThing immunodeficiency disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. tmpak2llvmy_mondo_relaxed.owl immunodeficiency disorder|immunodeficiency|immunodeficiency syndrome|immuno-deficiency OMIMPS:300755|ICD9:279.3|SCTID:234532001|NCIT:C3131 owl:Class GO:0060124 biolink:NamedThing positive regulation of growth hormone secretion Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060123 biolink:NamedThing regulation of growth hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010171 biolink:NamedThing Usher syndrome type 1C A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, Acadian variety|USHER syndrome, type IC|Usher syndrome type 1C|Usher syndrome, type 1C|Usher syndrome type IC|USH1C|Usher syndrome, type I, Acadian variety|Usher syndrome type I Acadian variety GARD:0005437|ICD10:H35.5|DOID:0110830|OMIM:276904|UMLS:C1848604 https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c owl:Class MONDO:0013510 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 6|susceptibility to cutaneous malignant melanoma 6|CMM6|melanoma, cutaneous malignant, susceptibility to, type 6 OMIM:613972 owl:Class MONDO:0024462 biolink:NamedThing familial cutaneous melanoma An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cutaneous melanoma (disease) OMIMPS:155600 Editor note: consider merge with parent owl:Class UBERON:0013514 biolink:NamedThing space surrounding organism The space that surrounds an organism. tmpak2llvmy_mondo_relaxed.owl external to organism|outside of body owl:Class UBERON:0015035 biolink:NamedThing pedal digit 5 phalanx endochondral element A pedal digit 5 phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit 5 phalanx element|pedal digit V phalanx endochondral element|pedal digit 5 phalanx skeletal element owl:Class UBERON:0015030 biolink:NamedThing pedal digit phalanx endochondral element A pedal digit phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit phalanx skeletal element|pedal digit phalanx element owl:Class MONDO:0002193 biolink:NamedThing Bartholin gland benign neoplasm A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl Bartholin gland neoplasm|tumor of Bartholin's gland|major vestibular gland benign neoplasm DOID:2068|SCTID:189130001 owl:Class MONDO:0008394 biolink:NamedThing Silver-Russell syndrome Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. tmpak2llvmy_mondo_relaxed.owl Russell-Silver dwarfism|SRS|Silver-Russell syndrome|Silver-Russell dwarfism|Silver Russell dwarfism|Russell-Silver syndrome|Silver Russell syndrome|Russell Silver syndrome UMLS:C0175693|GARD:0004870|DOID:14681|ICD9:759.89|OMIMPS:180860|Orphanet:813|MESH:D056730|SCTID:15069006|ICD10:Q87.1|NCIT:C85068|MedDRA:10062282 owl:Class GO:0022008 biolink:NamedThing neurogenesis Generation of cells within the nervous system. tmpak2llvmy_mondo_relaxed.owl nervous system cell generation|neural cell differentiation owl:Class MONDO:0000549 biolink:NamedThing cervical neuroblastoma A relatively uncommon neuroblastoma that is found in the neck. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of neck|neck neuroblastoma DOID:0050935 owl:Class MONDO:0021351 biolink:NamedThing neoplasm of neck A neoplasm (disease) that involves the neck. tmpak2llvmy_mondo_relaxed.owl neck neoplasms (Including All pharyngeal related neoplasms)|tumor of the neck|neck neoplasm (disease)|neoplasm of neck|neoplasm of the neck|tumor of neck|neck tumor|neck neoplasm SCTID:126635000|UMLS:C0027533|ICD9:239.89|NCIT:C3260 owl:Class MONDO:0044617 biolink:NamedThing X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:482606 owl:Class HGNC:9689 biolink:NamedThing PTS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021439 biolink:NamedThing benign neoplasm of pituitary gland A benign neoplasm that involves the pituitary gland. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the pituitary|benign pituitary gland tumor|pituitary gland benign neoplasm|benign tumor of the pituitary|benign neoplasm of the pituitary gland|benign tumor of pituitary gland|pituitary neoplasms, benign|benign pituitary tumor|benign neoplasm of pituitary|benign pituitary neoplasm|benign tumor of the pituitary gland|benign pituitary gland neoplasm|benign tumor of pituitary|pituitary tumor, benign NCIT:C4782|DOID:60009|ICD10:D35.2|SCTID:92296004|UMLS:C0496901 owl:Class HGNC:2212 biolink:NamedThing COL6A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0034121 biolink:NamedThing NAD(P)HX dehydratase deficiency tmpak2llvmy_mondo_relaxed.owl ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2|PEBEL2 OMIM:618321|Orphanet:555402 owl:Class MONDO:0004251 biolink:NamedThing small intestine neoplasm A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl neoplasm of the small intestine|tumor of the small intestine|small intestine neoplasm|tumor of the small bowel|neoplasm of small bowel|neoplasm of the small bowel|small bowel tumor|small intestine neoplasm (disease)|small intestinal neoplasm|tumor of small intestine|neoplasm of small intestine|tumor of small bowel|small bowel neoplasm|small intestine tumor NCIT:C4432|UMLS:C0345832|SCTID:126832004|DOID:7505 owl:Class MONDO:0024635 biolink:NamedThing small intestine disease A disease that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl disease or disorder of small intestine|disease of small intestine|disorder of small intestine|small intestine disease or disorder SCTID:119522002|UMLS:C0341268 owl:Class MONDO:0014529 biolink:NamedThing cerebellar-facial-dental syndrome tmpak2llvmy_mondo_relaxed.owl CFDS|CEREBELLOFACIODENTAL syndrome|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome OMIM:616202|ICD10:Q87.0|EFO:0009030|UMLS:C4015495|Orphanet:444072|UMLS:CN221667 owl:Class HGNC:2197 biolink:NamedThing COL1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008951 biolink:NamedThing left lung lobe A lobe of lung that is part of a left lung. tmpak2llvmy_mondo_relaxed.owl lobe of the left lung|lobe of left lung owl:Class UBERON:0000101 biolink:NamedThing lobe of lung A lung lobe is one of the rounded projections that compose the lung[GO]. tmpak2llvmy_mondo_relaxed.owl pulmonary lobe|pulminory lobe|lung lobe owl:Class MONDO:0008864 biolink:NamedThing Biemond syndrome type 2 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. tmpak2llvmy_mondo_relaxed.owl Biemond syndrome 2|BS2|Biemond syndrome type 2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|BIEMOND syndrome II|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly GARD:0000882|SCTID:717887003|Orphanet:141333|OMIM:210350|MESH:C565902|UMLS:C1859487 Editor note: see also type 1, e.g. GARD:0000881 https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 owl:Class UBERON:0003500 biolink:NamedThing corneal blood vessel A blood vessel that is part of a cornea [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cornea blood vessel|blood vessel of cornea owl:Class MONDO:0003687 biolink:NamedThing endocardium cancer A malignant neoplasm involving the endocardium. tmpak2llvmy_mondo_relaxed.owl malignant tumor of endocardium|malignant endocardium neoplasm|malignant endocardial neoplasm|malignant neoplasm of endocardium|malignant endocardial tumor|malignant neoplasm of the endocardium|endocardium cancer|malignant tumor of the endocardium|cancer of endocardium DOID:5877|UMLS:C0346612|SCTID:363436001|NCIT:C4570 owl:Class MONDO:0022972 biolink:NamedThing diabetic mastopathy Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). tmpak2llvmy_mondo_relaxed.owl lymphocytic mastitis|diabetic fibrous breast disease|sclerosing lymphocytic lobulitis|lymphocytic mastopathy|diabetic fibrous mastopathy GARD:0008322|MESH:C537524|SCTID:724136006 https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy owl:Class MONDO:0000620 biolink:NamedThing breast benign neoplasm A non-metastasizing neoplasm arising from the breast parenchyma. tmpak2llvmy_mondo_relaxed.owl benign breast neoplasm|benign breast tumor|benign neoplasm of the breast|benign tumor of breast|breast benign neoplasm|benign tumor of the breast|benign neoplasm of breast SCTID:269485000|NCIT:C4505|DOID:0060082|ICD9:217 owl:Class UBERON:0003594 biolink:NamedThing pelvis connective tissue A portion of connective tissue that is part of a pelvis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pelvis textus connectivus|connective tissue of pelvis|pelvis portion of connective tissue|textus connectivus of pelvis|portion of connective tissue of pelvis owl:Class OBO:MF_0000030 biolink:NamedThing representation A dependent continuant which is about a portion of reality. tmpak2llvmy_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class BFO:0000020 biolink:NamedThing specifically dependent continuant b is a relational specifically dependent continuant = Def. b is a specifically dependent continuant and there are n > 1 independent continuants c1, … cn which are not spatial regions are such that for all 1 i < j n, ci and cj share no common parts, are such that for each 1 i n, b s-depends_on ci at every time t during the course of b’s existence (axiom label in BFO2 Reference: [131-004])|b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])|A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. tmpak2llvmy_mondo_relaxed.owl SpecificallyDependentContinuant sdc Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. specifically dependent continuant Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key|the pink color of a medium rare piece of grilled filet mignon at its center|of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates.|the mutual dependence of proton donors and acceptors in chemical reactions [79|the shape of this hole.|the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction|the disposition of this fish to decay|the smell of this portion of mozzarella|of one-sided specifically dependent continuants: the mass of this tomato|the role of being a doctor|the function of this heart: to pump blood (iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] |(iff (RelationalSpecificallyDependentContinuant a) (and (SpecificallyDependentContinuant a) (forall (t) (exists (b c) (and (not (SpatialRegion b)) (not (SpatialRegion c)) (not (= b c)) (not (exists (d) (and (continuantPartOfAt d b t) (continuantPartOfAt d c t)))) (specificallyDependsOnAt a b t) (specificallyDependsOnAt a c t)))))) // axiom label in BFO2 CLIF: [131-004] owl:Class MONDO:0012586 biolink:NamedThing coronary artery disease, autosomal dominant 2 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. tmpak2llvmy_mondo_relaxed.owl coronary artery disease, autosomal dominant type 2|coronary artery disease caused by mutation in LRP6|coronary artery disease, autosomal dominant 2|LRP6 coronary artery disease|ADCAD2 OMIM:610947|UMLS:C1970440|MESH:C567045 owl:Class MONDO:0005010 biolink:NamedThing coronary artery disease Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) tmpak2llvmy_mondo_relaxed.owl CHD|disorder of coronary artery|coronary arteriosclerosis|CAD|disease of coronary artery|CHD (coronary heart disease)|disease or disorder of coronary artery|coronary disease|coronary artery disease|coronary heart disease|coronary artery disease or disorder NCIT:C26732|SCTID:414024009|ICD9:414.9|ICD10:I25|ICD10:I20-I25|ICD10:I25.10|ICD10:K76.1|EFO:0001645|ICD10:I25.1|ICD9:414.0|MESH:D003324|UMLS:C1956346|ICD9:410-414.99|GARD:0011944|DOID:3393|ICD10:I25.9 owl:Class MONDO:0008215 biolink:NamedThing adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease|autosomal dominant leukodystrophy with autonomic disease|ADLD|adult-onset autosomal dominant demyelinating leukodystrophy|multiple sclerosis-like disorder|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|autosomal dominant adult-onset demyelinating leukodystrophy|adult-onset autosomal dominant leukodystrophy SCTID:448054001|Orphanet:99027|MESH:C566813|DOID:0060785|ICD10:E75.2|OMIM:169500|GARD:0010587 owl:Class MONDO:0019046 biolink:NamedThing leukodystrophy Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating|hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy|HLD Orphanet:68356|ICD9:330.0|SCTID:192781003|UMLS:C0023520|DOID:10579|OMIMPS:312080|UMLS:CN228461|DOID:0050987|NCIT:C61253|ICD10:E75.2|GARD:0006895|MedDRA:10024381|DOID:0060786 Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy owl:Class MONDO:0020947 biolink:NamedThing parasitic eye infection Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. tmpak2llvmy_mondo_relaxed.owl Ocular Infections, Parasitic|Eye Infections, Parasitic|Infections, Parasitic Ocular|Infection, Parasitic Eye|Parasitic Ocular Infections|PARASITIC EYE INFECT|EYE INFECT PARASITIC|Parasitic eye infection|Eye Infection, Parasitic|parasitic eye infection|Infection, Parasitic Ocular|Parasitic Ocular Infection|OCULAR INFECT PARASITIC|Infections, Parasitic Eye|Parasitic Eye Infection|Ocular Infection, Parasitic|Parasitic Eye Infections MESH:D015822|UMLS:C0015406|ICD9:136.9|SCTID:312418006 owl:Class MONDO:0005135 biolink:NamedThing parasitic infectious disease A successful invasion of a host by an organism that uses the host for food and shelter. tmpak2llvmy_mondo_relaxed.owl infestation|parasitic disease|parasitosis|parasitic infectious disease|diseases, parasitic|ectoparasitic disease|parasitemia|disease, parasitic|parasitic infection|parasitism|disease caused by parasite|parasite infestation ICD9:136.9|SCTID:17322007|NCIT:C27864|MESH:D010272|ICD10:H44.12|ICD9:136.4|ICD9:376.13|ICD9:134.9|DOID:1398|EFO:0001067|ICD9:136.8|ICD9:360.13|ICD9:134.8|ICD9:129 owl:Class UBERON:0006960 biolink:NamedThing ovary stroma The stroma of the ovary is a peculiar soft tissue, abundantly supplied with blood vessels, consisting for the most part of spindle-shaped cells with a small amount of ordinary connective tissue. These cells have been regarded by some anatomists as unstriped muscle cells, which, indeed, they most resemble; by others as connective-tissue cells. On the surface of the organ this tissue is much condensed, and forms a layer composed of short connective-tissue fibers, with fusiform cells between them. The stroma of the ovary may contain interstitial cells resembling those of the testis. tmpak2llvmy_mondo_relaxed.owl stroma ovarica|stroma ovarii|stroma of the ovary|ovarian stroma|interstitial tissue of ovary|ovary stroma owl:Class UBERON:0005156 biolink:NamedThing reproductive structure Any anatomical structure that is part of the reproductive system. tmpak2llvmy_mondo_relaxed.owl reproductive system structure|reproductive system element owl:Class MONDO:0001580 biolink:NamedThing lacrimal duct cancer A primary or metastatic malignant neoplasm affecting the lacrimal duct. tmpak2llvmy_mondo_relaxed.owl malignant lacrimal drainage system neoplasm|malignant lacrimal duct neoplasm|lacrimal drainage system cancer|malignant neoplasm of lacrimal drainage system|malignant tumor of the lacrimal duct|malignant lacrimal duct tumor|cancer of lacrimal drainage system|malignant tumor of lacrimal duct|malignant neoplasm of the lacrimal duct|malignant neoplasm of lacrimal duct ICD9:190.7|UMLS:C0153631|SCTID:188274004|NCIT:C3567|DOID:12756 owl:Class ENVO:01000646 biolink:NamedThing lithosphere A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000639 biolink:NamedThing planetary structural layer A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018876 biolink:NamedThing mantle cell lymphoma Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. tmpak2llvmy_mondo_relaxed.owl classical mantle cell lymphoma|mantle zone lymphoma|lymphoma, mantle cell|LCM|mantle cell lymphoma|MCL DOID:0050746|SCTID:443487006|ONCOTREE:MCL|ICDO:9673/3|EFO:1001469|ICD10:C83.1|MESH:D020522|ICD9:200.40|MedDRA:10061275|GARD:0006969|NCIT:C4337|Orphanet:52416 owl:Class MONDO:0017595 biolink:NamedThing aggressive B-cell non-Hodgkin lymphoma tmpak2llvmy_mondo_relaxed.owl aggressive B-cell NHL Orphanet:300846 owl:Class MONDO:0007438 biolink:NamedThing dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. tmpak2llvmy_mondo_relaxed.owl sclerotic bones with dentin dysplasia|dentin dysplasia sclerotic bones|dentin dysplasia with sclerotic bones OMIM:125440|MESH:C538213|ICD10:K00.5|UMLS:C1852201|Orphanet:99792|GARD:0001808 owl:Class MONDO:0016705 biolink:NamedThing angiocentric glioma Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. tmpak2llvmy_mondo_relaxed.owl ANGL|Monomorphus angiocentric glioma|angiocentric glioma (WHO grade I)|angiocentric neuroepithelial tumor ONCOTREE:ANGL|NCIT:C92552|ICD10:C71.9|UMLS:C2363903|ICDO:9431/1|Orphanet:251671 owl:Class MONDO:0021637 biolink:NamedThing low grade glioma A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma. tmpak2llvmy_mondo_relaxed.owl low grade glioma|low-grade glioma NCIT:C132067|UMLS:C1997217 owl:Class MONDO:0000385 biolink:NamedThing benign digestive system neoplasm A non-metastasizing neoplasm arising from any part of the digestive system. tmpak2llvmy_mondo_relaxed.owl benign gastrointestinal neoplasm|benign GI neoplasm|benign GI tumor|benign tumor of gastrointestinal system|gastrointestinal system benign neoplasm|benign tumor of the GI system|benign neoplasm of digestive system|benign tumor of the gastrointestinal system|benign tumor of GI system|benign GI system neoplasm|benign neoplasm of the digestive system|benign tumor of the digestive system|benign GI system tumor|alimentary part of gastrointestinal system benign neoplasm|benign digestive system tumor|benign neoplasm of gastrointestinal system|benign gastrointestinal tumor|benign gastrointestinal system tumor|benign tumor of digestive system NCIT:C4787|UMLS:C0497538|DOID:0050624 owl:Class MONDO:0001377 biolink:NamedThing vitreous syneresis tmpak2llvmy_mondo_relaxed.owl vitreous degeneration UMLS:C0155366|ICD9:379.21|ICD10:H43.81|SCTID:60189009|DOID:11816 Editor note: TODO consider cede to HPO owl:Class MONDO:0004884 biolink:NamedThing eye degenerative disease A neurodegenerative disease that involves the eye. tmpak2llvmy_mondo_relaxed.owl neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of globe|eyeball of camera-type eye neurodegenerative disease|degenerative disorder of eye|eye neurodegenerative disease ICD9:360.2|ICD9:360.29|UMLS:C0154777|ICD10:H44.5|DOID:9799|SCTID:62585004|ICD9:360.4|ICD9:360.40|ICD10:H44.30|ICD9:360.20 owl:Class UBERON:0005125 biolink:NamedThing metanephric proximal straight tubule The metanephric proximal straight tubule is the part of the metanephric descending limb that extends from the metanephric proximal convoluted tubule to the metanephric descending thin tubule[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001290 biolink:NamedThing proximal straight tubule The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. tmpak2llvmy_mondo_relaxed.owl thick descending limb of proximal tubule|tubulus rectus proximalis|S3|proximal tubule segment 3|pars recta tubuli renalis|segment 3 of proximal tubule|pars recta owl:Class MONDO:0019883 biolink:NamedThing distal trisomy 9q Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. tmpak2llvmy_mondo_relaxed.owl trisomy 9qter|distal duplication 9q|telomeric duplication 9q|distal trisomy type 9q SCTID:764520001|Orphanet:96101|ICD10:Q92.3 owl:Class MONDO:0016960 biolink:NamedThing partial trisomy of the long arm of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 9q|partial duplication of chromosome 9q|partial duplication of the long arm of chromosome 9|partial trisomy of the long arm of chromosome type 9 Orphanet:262905 owl:Class MONDO:0018170 biolink:NamedThing idiopathic nephrotic syndrome Nephrotic syndrome for which no cause has been identified. tmpak2llvmy_mondo_relaxed.owl Orphanet:357502|NCIT:C122796|UMLS:C3496337 owl:Class MONDO:0005377 biolink:NamedThing nephrotic syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. tmpak2llvmy_mondo_relaxed.owl syndromes, nephrotic|nephrotic syndromes|syndrome, nephrotic|nephrotic syndrome|nephrosis MESH:D009404|EFO:0004255|UMLS:C0027726|SCTID:52254009|DOID:1184|ICD10:N04|ICD9:581.9|NCIT:C34845|ICD9:581 owl:Class MONDO:0004689 biolink:NamedThing inborn metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. tmpak2llvmy_mondo_relaxed.owl metal metabolism disorder|metal metabolism, inborn error UMLS:C0025534|MESH:D008664|DOID:896 owl:Class GO:2000035 biolink:NamedThing regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division. tmpak2llvmy_mondo_relaxed.owl regulation of stem cell renewal owl:Class GO:0051302 biolink:NamedThing regulation of cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1990837 biolink:NamedThing sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. tmpak2llvmy_mondo_relaxed.owl sequence-specific dsDNA binding owl:Class GO:0003690 biolink:NamedThing double-stranded DNA binding Binding to double-stranded DNA. tmpak2llvmy_mondo_relaxed.owl dsDNA binding owl:Class CL:0002188 biolink:NamedThing glomerular endothelial cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. tmpak2llvmy_mondo_relaxed.owl FMA:70970|BTO:0004632 tmeehan 2010-08-26T10:59:44Z cell owl:Class UBERON:0004928 biolink:NamedThing submucosa of appendix A submucosa that is part of an appendix [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vermiform appendix submucosa|submucosa of vermiform appendix|appendiceal submucosa|submucosa of vermix|appendix submucosa|submucosa of caecal appendix|vermix submucosa|caecal appendix submucosa owl:Class UBERON:0018543 biolink:NamedThing lumen of intestine The anatomical space within the intestine. tmpak2llvmy_mondo_relaxed.owl intestine lumen|gut lumen|intestinal lumen owl:Class CHEBI:25558 biolink:NamedThing organonitrogen heterocyclic antibiotic tmpak2llvmy_mondo_relaxed.owl organonitrogen heterocyclic antibiotics owl:Class CHEBI:24531 biolink:NamedThing heterocyclic antibiotic tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014302 biolink:NamedThing hereditary spastic paraplegia 62 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. tmpak2llvmy_mondo_relaxed.owl ERLIN1 autosomal recessive pure spastic paraplegia|hereditary spastic paraplegia type 62|SPG62|spastic paraplegia 62, autosomal recessive|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|autosomal recessive spastic paraplegia 62|autosomal recessive spastic paraplegia type 62 Orphanet:401785|UMLS:C4284588|SCTID:765045003|DOID:0110813|ICD10:G11.4|OMIM:615681 owl:Class MONDO:0015090 biolink:NamedThing autosomal recessive pure spastic paraplegia Autosomal recessive form of pure hereditary spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl autosomal recessive pure SPG|autosomal recessive uncomplicated spastic paraplegia|autosomal recessive uncomplicated SPG|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure HSP|autosomal recessive pure hereditary spastic paraplegia|autosomal recessive uncomplicated HSP Orphanet:100982|ICD10:G11.4|UMLS:CN228910 owl:Class NCBITaxon:137 biolink:NamedThing Spirochaetaceae tmpak2llvmy_mondo_relaxed.owl Treponemataceae PMID:23908650|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:136 biolink:NamedThing Spirochaetales tmpak2llvmy_mondo_relaxed.owl spirochetes PMID:11075904|PMID:23908650|GC_ID:11|PMID:16558735|PMID:1917844|PMID:11542017 ncbi_taxonomy owl:Class UBERON:0001974 biolink:NamedThing lamina propria of esophagus A lamina propria that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lamina propria mucosa of esophagus|oesophagus lamina propria mucosae|lamina propria of gullet|esophagus lamina propria|oesophagus lamina propria mucosa|oesophagus lamina propria|gullet lamina propria mucosa|lamina propria mucosae of esophagus|lamina propria mucosa of gullet|lamina propria mucosae of gullet|gullet lamina propria mucosae|lamina propria mucosa of oesophagus|lamina propria mucosae of oesophagus|esophagus lamina propria mucosae|lamina propria of oesophagus|esophagus lamina propria mucosa|gullet lamina propria|esophageal lamina propria owl:Class UBERON:0000030 biolink:NamedThing lamina propria A thin layer of loose connective tissue which lies beneath the epithelium and together with the epithelium constitutes the mucosa[WP]. The lamina propria contains capillaries and a central lacteal (lymph vessel) in the small intestine, as well as lymphoid tissue. Lamina propria also contains glands with the ducts opening on to the mucosal epithelium, that secrete mucus and serous secretions. tmpak2llvmy_mondo_relaxed.owl lamina propria mucosae|lamina propria mucosa|tunica propria owl:Class MONDO:0021048 biolink:NamedThing benign mastocytoma A localized mast cell neoplasm without metastatic potential. tmpak2llvmy_mondo_relaxed.owl mastocytoma, benign|benign mastocytoma|MAST cell tumor, benign ICD10:D47.0|UMLS:C2242987|NCIT:C3217|DOID:4658 owl:Class NBO:0000338 biolink:NamedThing kinesthetic behavior "Movement behavior of the body or its parts." tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000313 biolink:NamedThing behavior process "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] tmpak2llvmy_mondo_relaxed.owl behaviour|behavior owl:Class MONDO:0024524 biolink:NamedThing dyschromatosis universalis hereditaria 1 tmpak2llvmy_mondo_relaxed.owl DUH1|dyschromatosis universalis hereditaria 1 MESH:C567273|OMIM:127500|UMLS:C2675711 owl:Class UBERON:0003357 biolink:NamedThing epithelium of tongue An epithelium that is part of a tongue [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lingual epithelium|tongue epithelial tissue|tongue epithelium|epithelial tissue of tongue owl:Class UBERON:0003929 biolink:NamedThing digestive tract epithelium An epithelium that lines the lumen of the digestive tract. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of gut|gut epithelial tissue|gastrodermis|epithelium of gut|epithelial tissue of digestive tract|digestive tract epithelial tissue|epithelium of digestive tract|gut epithelium|alimentary tract epithelium owl:Class MONDO:0009166 biolink:NamedThing pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. tmpak2llvmy_mondo_relaxed.owl encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|PCH4|olivopontocerebellar hypoplasia|pontocerebellar hypoplasia, type 4|encephalopathy fatal infantile with olivopontocerebellar hypoplasia ICD10:Q04.3|UMLS:C1856974|SCTID:718608006|Orphanet:166063|MESH:C536716|DOID:0060273|OMIM:225753|GARD:0000343 https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 owl:Class MONDO:0016101 biolink:NamedThing neurolymphomatosis A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. tmpak2llvmy_mondo_relaxed.owl Marek's disease|Marek disease|fowl paralysis|fowl paralyses UMLS:C0024793|MESH:D008380|GARD:0006974|SCTID:766752000|Orphanet:206586 owl:Class MONDO:0016180 biolink:NamedThing hematological disease associated with an acquired peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:209016|UMLS:CN200930 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease MONDO_0005570 owl:Class MONDO:0014690 biolink:NamedThing dyskeratosis congenita, autosomal dominant 6 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1. tmpak2llvmy_mondo_relaxed.owl autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal dominant 6|DKCA6|dyskeratosis congenita, autosomal recessive 7|dyskeratosis congenita, autosomal dominant type 6 DOID:0070023|OMIM:616553|UMLS:C4225284 owl:Class MONDO:0015780 biolink:NamedThing dyskeratosis congenita Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. tmpak2llvmy_mondo_relaxed.owl DC|Hoyeraal-Hreidarsson syndrome|Zinsser Cole Engman syndrome|dyskeratosis congenita|DKC|Zinsser-Engman-Cole syndrome NCIT:C111802|DOID:2729|SCTID:74911008|OMIMPS:127550|GARD:0010905|MedDRA:10062759|ICD10:Q82.8|UMLS:C0265965|MESH:D019871|Orphanet:1775 Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked owl:Class UBERON:0005151 biolink:NamedThing metanephric proximal tubule The metanephric proximal tubule is a metanephric nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle in the metanephros. It has a brush border epithelial morphology[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005146 biolink:NamedThing metanephric nephron tubule A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903825 biolink:NamedThing organic acid transmembrane transport The process in which an organic acid is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055085 biolink:NamedThing transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl membrane transport|ATP hydrolysis coupled transmembrane transport owl:Class UBERON:0003890 biolink:NamedThing Mullerian duct paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. tmpak2llvmy_mondo_relaxed.owl ductus paramesonephricus|paramesonephric duct|Muellerian duct|Müllerian duct|early paramesonephric duct owl:Class UBERON:0000025 biolink:NamedThing tube Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. tmpak2llvmy_mondo_relaxed.owl duct|anatomical tube owl:Class UBERON:0012074 biolink:NamedThing bony part of hard palate A subdivision of skeletal system that subdivision_of a hard palate. tmpak2llvmy_mondo_relaxed.owl hard palate skeleton|palatum osseum|bony palate owl:Class MONDO:0011096 biolink:NamedThing autosomal agammaglobulinemia Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. tmpak2llvmy_mondo_relaxed.owl AGM|agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia, non-Bruton type Orphanet:33110|UMLS:C1832241|MESH:C538056|GARD:0009640|ICD10:D80.0 owl:Class MONDO:0016462 biolink:NamedThing isolated agammaglobulinemia Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. tmpak2llvmy_mondo_relaxed.owl isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia SCTID:764858009|Orphanet:229717 owl:Class GO:0022832 biolink:NamedThing voltage-gated channel activity Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012675 biolink:NamedThing corticosteroid-binding globulin deficiency Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. tmpak2llvmy_mondo_relaxed.owl CBG deficiency|corticosteroid-binding globulin, elevated|transcortin deficiency|Cbg deficiency|corticosteroid-binding globulin deficiency|Transcortin deficiency UMLS:C1852529|OMIM:611489|ICD10:E27.8|Orphanet:199247|DOID:0090030|GARD:0013101 https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency owl:Class UBERON:0013695 biolink:NamedThing colon endothelium Vascular endothelium found in colon blood vessels. tmpak2llvmy_mondo_relaxed.owl colonic endothelial cell|colon endothelial cell|colorectal endothelial cell|colorectal endothelium|colon endothelial cells|colonic endothelium owl:Class GO:0006094 biolink:NamedThing gluconeogenesis The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. tmpak2llvmy_mondo_relaxed.owl glucose biosynthetic process|glucose biosynthesis owl:Class GO:0006006 biolink:NamedThing glucose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. tmpak2llvmy_mondo_relaxed.owl cellular glucose metabolic process|glucose metabolism owl:Class CL:1000466 biolink:NamedThing chromaffin cell of right ovary A chromaffin cell that is part of the right ovary. tmpak2llvmy_mondo_relaxed.owl FMA:74320 cell owl:Class MONDO:0011821 biolink:NamedThing Meckel syndrome, type 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpak2llvmy_mondo_relaxed.owl MKS3|Meckel-Gruber syndrome, type 3|TMEM67 Meckel syndrome|Meckel syndrome, type 3|Meckel syndrome 3|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67 UMLS:C1846357|OMIM:607361|DOID:0070117|GARD:0008744|MESH:C536132|ICD10:Q61.9 https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 owl:Class MONDO:0012426 biolink:NamedThing immunodeficiency 25 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency 25|immunodeficiency due to defect in CD3-zeta|CD3zeta deficiency|severe combined immunodeficiency (disease) caused by mutation in CD247|CD247 severe combined immunodeficiency (disease)|immunodeficiency type 25|IMD25 MESH:C565712|DOID:0060007|OMIM:610163|UMLS:C1857798 owl:Class MONDO:0015974 biolink:NamedThing severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. tmpak2llvmy_mondo_relaxed.owl severe combined immunodeficiency (disease)|SCID|severe combined immunodeficiency disease|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency severe combined immunodeficiency (disease) GARD:0007628|MESH:D016511|DOID:627|ICD10:D81.9|HP:0004430|ICD10:D81.0|MedDRA:10069566|ICD10:D81.2|ICD10:D81.3|ICD10:D81.1|SCTID:31323000|UMLS:C0085110|Orphanet:183660|NCIT:C3472 owl:Class MONDO:0019697 biolink:NamedThing mesomelic and rhizo-mesomelic dysplasia tmpak2llvmy_mondo_relaxed.owl UMLS:CN229208|Orphanet:93438 owl:Class MONDO:0020692 biolink:NamedThing spondylocostal dysostosis 1, autosomal recessive tmpak2llvmy_mondo_relaxed.owl spondylocostal dysostosis 1, autosomal recessive|vertebral anomalies|SCDO1|spondylothoracic dysplasia|spondylothoracic dysostosis OMIM:277300 owl:Class MONDO:0010180 biolink:NamedThing autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. tmpak2llvmy_mondo_relaxed.owl SCDO1|Jarcho-Levin syndrome|spondylocostal dysostosis 1, autosomal recessive|spondylocostal dysostosis, autosomal recessive|costovertebral dysplasia ICD9:756.9|SCTID:61367005|ICD10:Q76.8|UMLS:CN032975|Orphanet:2311|MESH:C535781 owl:Class MONDO:0008678 biolink:NamedThing Williams syndrome Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) tmpak2llvmy_mondo_relaxed.owl WMS|Williams syndrome|Williams-Beuren syndrome (WBS)|Williams-Beuren syndrome|deletion 7q11.23|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|Fanconi Schlesinger syndrome|WBS|monosomy 7q11.23 SCTID:63247009|MESH:D018980|ICD9:759.89|NCIT:C85232|OMIM:194050|MedDRA:10049644|GARD:0007891|DOID:1928|ICD10:Q87.8|Orphanet:904|UMLS:C0175702 owl:Class UBERON:0004259 biolink:NamedThing lower arm blood vessel A blood vessel that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forelimb zeugopod blood vessel owl:Class UBERON:0001981 biolink:NamedThing blood vessel A vessel through which blood circulates in the body. tmpak2llvmy_mondo_relaxed.owl region of vascular tree organ|vascular element|vascular tree organ region|vas sanguineum owl:Class MONDO:0008721 biolink:NamedThing medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. tmpak2llvmy_mondo_relaxed.owl MCADD|acyl-CoA dehydrogenase, medium-chain deficiency|Mcadh deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|MCAD|medium chain acyl CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|ACADM deficiency|ACADMD|medium-chain acyl-Coenzyme A dehydrogenase deficiency|medium chain acyl-CoA dehydrogenase deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|acyl-CoA dehydrogenase medium chain deficiency of|medium-chain acyl-CoA dehydrogenase deficiency|MCAD deficiency|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency NCIT:C84538|Orphanet:42|ICD9:277.85|GARD:0000540|SCTID:128596003|DOID:0080153|OMIM:201450|MESH:C536038|UMLS:C0220710|ICD10:E71.311|ICD10:E71.3 owl:Class MONDO:0017714 biolink:NamedThing acyl-CoA dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:C0268635|SCTID:82319005|ICD10:E71.3|Orphanet:309120 owl:Class MONDO:0020845 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 tmpak2llvmy_mondo_relaxed.owl PEOB5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5|progressive external ophthalmoplegia, autosomal recessive 5 OMIM:618098|DOID:0111524 owl:Class MONDO:0000090 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia with mtDNA deletions OMIMPS:157640|UMLS:CN239267 owl:Class UBERON:0010133 biolink:NamedThing neuroendocrine gland any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli tmpak2llvmy_mondo_relaxed.owl neuroendocrine system gland owl:Class MONDO:0010413 biolink:NamedThing intellectual disability, X-linked 95 tmpak2llvmy_mondo_relaxed.owl MRX95|mental retardation, X-linked 95|intellectual disability, X-linked 95 OMIM:300716|MESH:C567470|UMLS:C2678034 owl:Class HGNC:30304 biolink:NamedThing RGS9BP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010332 biolink:NamedThing epithelium of handplate An epithelium that is part of a handplate. tmpak2llvmy_mondo_relaxed.owl handplate epithelium owl:Class MONDO:0003290 biolink:NamedThing simple partial epilepsy tmpak2llvmy_mondo_relaxed.owl DOID:5129|ICD9:345.51 owl:Class MONDO:0016719 biolink:NamedThing microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males. tmpak2llvmy_mondo_relaxed.owl microcephaly seizures intellectual disability heart disorders|microcephaly seizures mental retardation heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities UMLS:C2931529|GARD:0003632|ICD10:Q87.8|MESH:C537544|Orphanet:2519 owl:Class HGNC:8808 biolink:NamedThing PDHB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3483 biolink:NamedThing ETFDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014029 biolink:NamedThing osteogenesis imperfecta type 14 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene. tmpak2llvmy_mondo_relaxed.owl OI, type 14|osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type XIV|TMEM38B osteogenesis imperfecta|osteogenesis imperfecta, type 14|OI14|osteogenesis imperfecta type XIV ICD10:Q78.0|DOID:0110343|OMIM:615066|UMLS:C3554428 owl:Class MONDO:0019019 biolink:NamedThing osteogenesis imperfecta Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. tmpak2llvmy_mondo_relaxed.owl Porak and Durante disease|Osteopsathyrosis|Lobstein's syndrome|OI|brittle bone disease|glass bone disease|Lobstein disease|Fragilitas ossium|Vrolik's disease|Vrolik disease ICD9:756.51|SCTID:78314001|MESH:D010013|ICD10:Q78.0|NCIT:C26837|DOID:12347|Orphanet:666|GARD:0001017|MedDRA:10031243|OMIMPS:166200|UMLS:C0029434 https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta owl:Class MONDO:0014901 biolink:NamedThing tooth agenesis, selective, 8 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. tmpak2llvmy_mondo_relaxed.owl WNT10B tooth agenesis|tooth agenesis, selective, type 8|tooth agenesis, selective, 8|tooth agenesis caused by mutation in WNT10B|STHAG8|tooth agenesis, selective, 8; STHAG8 UMLS:C4310730|OMIM:617073 owl:Class MONDO:0005486 biolink:NamedThing tooth agenesis Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. tmpak2llvmy_mondo_relaxed.owl oligodontia|tooth agenesis, selective|familial tooth agenesis|selective tooth agenesis|hypodontia OMIMPS:106600|EFO:0005410|SCTID:64969001|ICD10:K00.0|DOID:0050591|UMLS:CN169366|Orphanet:99798|ICD9:520.0 owl:Class MONDO:0013172 biolink:NamedThing polymicrogyria with optic nerve hypoplasia A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, Complex, with Other brain malformations 8|polymicrogyria with optic nerve hypoplasia|cortical dysplasia, complex, with other brain malformations 8|CDCBM8 Orphanet:250972|OMIM:613180|MESH:C567715|UMLS:C2750798 owl:Class UBERON:0000399 biolink:NamedThing jejunal mucosa A mucosa that is part of a jejunum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl jejunum organ mucosa|jejunum mucous membrane|mucosa of jejunum|jejunal mucous membrane|jejunum mucosa of organ|organ mucosa of jejunum|mucosa of organ of jejunum|mucous membrane of jejunum|jejunum mucosa owl:Class UBERON:0001204 biolink:NamedThing mucosa of small intestine A mucosa that is part of a small intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl small intestine mucosa|organ mucosa of small bowel|small intestine organ mucosa|small bowel mucous membrane|mucous membrane of small bowel|small bowel mucosa of organ|small bowel mucosa|small intestine mucosa of organ|small intestinal mucosa|mucosa of small bowel|tunica mucosa (intestinum tenue)|mucous membrane of small intestine|mucosa of organ of small intestine|mucosa of organ of small bowel|small bowel organ mucosa|small intestine mucous membrane|organ mucosa of small intestine|tunica mucosa intestini tenuis owl:Class MONDO:0004680 biolink:NamedThing primary thrombocytopenia tmpak2llvmy_mondo_relaxed.owl SCTID:267534000|DOID:8925|ICD10:D69.49|UMLS:C0701157|ICD9:287.3|ICD10:D69.4|ICD9:287.30|ICD9:287.39 owl:Class MONDO:0000602 biolink:NamedThing autoimmune disease of blood A hypersensitivity reaction type II disease that involves the blood. tmpak2llvmy_mondo_relaxed.owl blood hypersensitivity reaction type II disease|blood autoimmune disease DOID:0060050 owl:Class MONDO:0006141 biolink:NamedThing cervical villoglandular adenocarcinoma A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. tmpak2llvmy_mondo_relaxed.owl cervical adenocarcinoma, villoglandular variant|villoglandular variant cervical mucinous adenocarcinoma|villoglandular adenocarcinoma of the cervix|cervical villoglandular adenocarcinoma|cervical villoglandular carcinoma ONCOTREE:VGCE|EFO:1000170|NCIT:C40208|UMLS:C4289808|DOID:8338 owl:Class MONDO:0003204 biolink:NamedThing villous adenocarcinoma An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. tmpak2llvmy_mondo_relaxed.owl villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality) UMLS:C0334306|NCIT:C4142|DOID:4917|ICDO:8262/3 owl:Class GO:0050776 biolink:NamedThing regulation of immune response Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002682 biolink:NamedThing regulation of immune system process Any process that modulates the frequency, rate, or extent of an immune system process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008716 biolink:NamedThing acrogeria A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. tmpak2llvmy_mondo_relaxed.owl acrogeria, Gottron type|Gottron syndrome|familial acrogeria|Metageria|acrometageria UMLS:C0238590|GARD:0006543|OMIM:201200|MESH:C538187|ICD9:259.8|SCTID:238872007|UMLS:C0406584|ICD10:L90.8|Orphanet:2500 owl:Class MONDO:0019303 biolink:NamedThing premature aging syndrome Changes in the organism associated with senescence, occurring at an accelerated rate. tmpak2llvmy_mondo_relaxed.owl premature aging MESH:D019588|Orphanet:79389|MedDRA:10063493 owl:Class CL:1000456 biolink:NamedThing mesothelial cell of parietal peritoneum A mesothelial cell that is part of the parietal peritoneum. tmpak2llvmy_mondo_relaxed.owl FMA:72142 cell owl:Class MONDO:0007046 biolink:NamedThing hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. tmpak2llvmy_mondo_relaxed.owl acrokeratoderma, hereditary papulotranslucent UMLS:C1863343|MESH:C566323|OMIM:101840|EFO:1000708|DOID:0060360 owl:Class MONDO:0012519 biolink:NamedThing Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. tmpak2llvmy_mondo_relaxed.owl chromosome 16p13.3 deletion syndrome, proximal|Rsts deletion syndrome|16p13.3 deletion syndrome|Rubinstein-Taybi deletion syndrome ICD10:Q87.2|OMIM:610543|UMLS:C1864648|GARD:0010754|Orphanet:353281 https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome owl:Class MONDO:0022752 biolink:NamedThing chromosome 16p13.3 deletion syndrome tmpak2llvmy_mondo_relaxed.owl Rubinstein-Taybi syndrome, Severe|RSTS, Severe MESH:C566433|UMLS:C3502510 owl:Class MONDO:0005412 biolink:NamedThing duodenal ulcer An ulcer in the duodenal wall. tmpak2llvmy_mondo_relaxed.owl curling Ulcer|curling's ulcers|duodenal ulcer (disease)|duodenal ulcer|stress Ulcer duodenal ulcer (disease) SCTID:39755000|DOID:1724|EFO:0004607|ICD9:532|ICD10:K26|MESH:D004381|HP:0002588|NCIT:C26755 owl:Class MONDO:0000339 biolink:NamedThing spinal polio A paralytic poliomyelitis in which the site of paralysis is the spinal cord. tmpak2llvmy_mondo_relaxed.owl DOID:0050513 owl:Class MONDO:0000341 biolink:NamedThing paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. tmpak2llvmy_mondo_relaxed.owl DOID:0050515 owl:Class MONDO:0008595 biolink:NamedThing trichoepitheliomas, multiple desmoplastic tmpak2llvmy_mondo_relaxed.owl trichoepitheliomas, multiple desmoplastic MESH:C566034|OMIM:190345|UMLS:C1860849 owl:Class MONDO:0016165 biolink:NamedThing genetic hypoparathyroidism Genetic hypoparathyroidism. tmpak2llvmy_mondo_relaxed.owl genetic hypoparathyroidism Orphanet:208593 owl:Class MONDO:0012105 biolink:NamedThing granulomatosis with polyangiitis A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. tmpak2llvmy_mondo_relaxed.owl Wegener's syndrome|necrotizing respiratory granulomatosis|granulomatosis with polyangiitis|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|Midline granulomatosis|ANCA-associated vasculitis|GPA|Wegener's granulomatosis|granulomatosis - Wegener's|Wegener granulomatosis|Wg OMIM:608710|GARD:0007880|ICD10:M31.3|EFO:0005297|ICD10:M31.30|UMLS:C4050407|NCIT:C123111|DOID:12132|MedDRA:10047888|ICD9:446.4|SCTID:195353004|MESH:D014890|UMLS:C3495801|Orphanet:900 owl:Class MONDO:0019724 biolink:NamedThing secondary glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206631|Orphanet:93551 owl:Class GO:0010959 biolink:NamedThing regulation of metal ion transport Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006497 biolink:NamedThing cerebral palsy A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. tmpak2llvmy_mondo_relaxed.owl infantile cerebral palsy MESH:D002547|ICD9:343.8|NCIT:C34460|GARD:0010450|ICD9:343.9|UMLS:C0007789|CSP:0723-4729|ICD10:G80.9|ICD10:G80|DOID:1969|EFO:1000632|SCTID:128188000|HP:0100021 owl:Class MONDO:0006496 biolink:NamedThing palsy A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) tmpak2llvmy_mondo_relaxed.owl Plegia|Plegias MESH:D010243|EFO:1000631|Wikipedia:Palsy owl:Class MONDO:0025061 biolink:NamedThing edema disease of swine An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. tmpak2llvmy_mondo_relaxed.owl swine edema disease|swine edema diseases UMLS:C0013605|MESH:D004488 owl:Class MONDO:0024990 biolink:NamedThing swine disease Diseases of domestic swine and of the wild boar of the genus Sus. tmpak2llvmy_mondo_relaxed.owl swine disease|disease, swine|diseases, swine MESH:D013553|UMLS:C0039006 owl:Class UBERON:0001821 biolink:NamedThing sebaceous gland A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. tmpak2llvmy_mondo_relaxed.owl glandula sebacea|sebaceous follicle|glandula sebaceae owl:Class UBERON:0007771 biolink:NamedThing epidermis gland A gland that is part of a epidermis. tmpak2llvmy_mondo_relaxed.owl gland of epidermis|epidermal gland owl:Class MONDO:0016122 biolink:NamedThing periodic paralysis tmpak2llvmy_mondo_relaxed.owl periodic paralysis (disease)|periodic paralysis periodic paralysis (disease) UMLS:C1279412|HP:0003768|MedDRA:10016208|Orphanet:206976|ICD10:G72.3|UMLS:CN231077 Editor note: classified as genetic in ORDO but we treat as neutral here owl:Class MONDO:0020120 biolink:NamedThing skeletal muscle disease A disease involving the skeletal muscle tissue. tmpak2llvmy_mondo_relaxed.owl disorder of skeletal muscle tissue|disease of skeletal muscle tissue|skeletal muscle tissue disease or disorder|disease or disorder of skeletal muscle tissue|skeletal muscle tissue disease UMLS:C1533847|MedDRA:10028641|SCTID:75047002|Orphanet:98472 owl:Class MONDO:0002879 biolink:NamedThing uterine body mixed cancer A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. tmpak2llvmy_mondo_relaxed.owl malignant mixed neoplasm of the uterine corpus|malignant mixed neoplasm of body of uterus|malignant mixed tumor of body of uterus|malignant corpus uteri mixed neoplasm|malignant mixed neoplasm of uterine body|malignant mixed neoplasm of the corpus uteri|malignant uterine body mixed tumor|malignant mixed tumor of uterine body|malignant mixed neoplasm of corpus uteri|malignant mixed tumor of the body of uterus|malignant mixed tumor of the uterine body|malignant mixed tumor of corpus uteri|malignant mixed tumor of uterine corpus|malignant mixed neoplasm of uterine corpus|malignant corpus uteri mixed tumor|malignant body of uterus mixed tumor|malignant body of uterus mixed neoplasm|malignant mixed neoplasm of the uterine body|malignant mixed tumor of the uterine corpus|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed neoplasm of the body of uterus|malignant mixed tumor of the corpus uteri|malignant uterine corpus mixed tumor|malignant uterine body mixed neoplasm DOID:4114|UMLS:C1334628|NCIT:C6311 owl:Class MONDO:0003210 biolink:NamedThing intrahepatic cholangiocarcinoma A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpak2llvmy_mondo_relaxed.owl ICC|intrahepatic cholangiocarcinoma|cholangiocarcinoma, intrahepatic, malignant|intrahepatic cholangiocarcinoma (bile duct cancer)|intrahepatic bile duct cancer (cholangiocarcinoma)|IHCH|intrahepatic carcinoma of the bile duct|peripheral cholangiocarcinoma|intrahepatic bile duct carcinoma|intrahepatic carcinoma of bile duct|intrahepatic Cholangiocellular carcinoma SCTID:109842005|DOID:4928|GARD:0006042|ONCOTREE:IHCH|ICD10:C22.1|UMLS:C0345905|NCIT:C35417|EFO:1001961 https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma owl:Class MONDO:0019087 biolink:NamedThing cholangiocarcinoma A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpak2llvmy_mondo_relaxed.owl Cholangiocar.- intra/extrahepatic|CCA|cholangiocarcinoma|cholangiocarcinoma, malignant|Cholangiocellular carcinoma|intrahepatic bile duct cancer (cholangiocarcinoma)|adult primary cholangiocarcinoma|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|cholangiosarcoma|CC|adult primary cholangiocellular carcinoma|bile duct cancer ICDO:8160/3|ICD10:C24.8|MedDRA:10004593|MESH:D018281|SCTID:312104005|NCIT:C4436|GARD:0009304|ICD10:C24.9|ICD10:C24.0|EFO:0005221|UMLS:C0206698|Orphanet:70567|MedDRA:10008593|DOID:4947|ICD10:C22.1|ONCOTREE:CHOL owl:Class MONDO:0002625 biolink:NamedThing Ewing sarcoma of bone A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. tmpak2llvmy_mondo_relaxed.owl localized skeletal Ewing's sarcoma|bone tissue Ewing sarcoma|skeletal Ewing's sarcoma|osseous Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|Ewing sarcoma of bone|osseous Ewing's tumor|bone Ewing's sarcoma|bone localized Ewing sarcoma|bone localized Ewing's sarcoma|Ewing's sarcoma, osseous|skeletal Ewing's tumor|Ewing's sarcoma of bone|bone Ewing sarcoma SCTID:307608006|NCIT:C4835|UMLS:C0585474|DOID:3368|ICD9:170.9 owl:Class MONDO:0012817 biolink:NamedThing Ewing sarcoma A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. tmpak2llvmy_mondo_relaxed.owl Ewing's family localized tumor|ES|Ewing's sarcoma|Ewing's tumor|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|localized Ewing's sarcoma|localized Ewing sarcoma|Ewing tumor|Ewings sarcoma-primitive neuroectodermal tumor|Ewings sarcoma|PNET of Thoracopulmonary region|neuroepithelioma, peripheral|Ewing sarcoma|sarcoma, Ewing's|localized peripheral primitive neuroectodermal tumor|localized Ewing's tumor ICD10:C41.3|Orphanet:319|ICDO:9260/3|NCIT:C4817|EFO:0000174|ICD10:C41.4|ICD10:C41.2|ICD10:C40.1|OMIM:612219|MedDRA:10015560|GARD:0006390|UMLS:C0553580|MESH:D012512|ICD10:C40.3|ICD10:C40.0|ICD10:C40.2|DOID:3369|ONCOTREE:ES owl:Class MONDO:0006291 biolink:NamedThing malignant jugulotympanic paraganglioma A jugulotympanic paraganglioma that metastasizes to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl cancer of jugular body|malignant jugulotympanic paraganglioma|malignant neoplasm of glomus jugulare|malignant neoplasm of the glomus jugulare|malignant tumor of glomus jugulare|malignant jugular body neoplasm|malignant glomus jugulare tumor|malignant tumor of the glomus jugulare|jugular body cancer|malignant neoplasm of jugular body|malignant glomus jugulare neoplasm EFO:1000353|UMLS:C0347856|NCIT:C4623 owl:Class MONDO:0002132 biolink:NamedThing skull cancer A malignant neoplasm involving the skull. tmpak2llvmy_mondo_relaxed.owl cancer of skull|skull cancer|malignant neoplasm of skull|malignant skull neoplasm DOID:1863 owl:Class GO:0016705 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous owl:Class GO:0016491 biolink:NamedThing oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on other substrates|redox activity owl:Class UBERON:0002025 biolink:NamedThing stratum basale of epidermis the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells tmpak2llvmy_mondo_relaxed.owl basal layer of epidermis|epidermis basal layer|stratum basale|epidermal basal stratum|Malpighian layer|epidermis stratum germinativum|stratum germinativum|epidermis stratum basale|stratum Malpighi|basal epidermal layer|epidermis sensorial layer|stratum basalis of epidermis|stratum germinosum of epidermis|basal cell layer of epidermis|rete Malpighii|rete Malphighii|basal cell layer of skin|stratum germinosum owl:Class MONDO:0017950 biolink:NamedThing microcephalic primordial dwarfism tmpak2llvmy_mondo_relaxed.owl UMLS:CN437676|ICD10:Q87.1|Orphanet:324761 owl:Class HGNC:30035 biolink:NamedThing PIK3R5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030809 biolink:NamedThing negative regulation of nucleotide biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpak2llvmy_mondo_relaxed.owl downregulation of nucleotide biosynthetic process|negative regulation of nucleotide anabolism|negative regulation of nucleotide formation|down regulation of nucleotide biosynthetic process|negative regulation of nucleotide synthesis|inhibition of nucleotide biosynthetic process|down-regulation of nucleotide biosynthetic process|negative regulation of nucleotide biosynthesis owl:Class GO:0031327 biolink:NamedThing negative regulation of cellular biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl inhibition of cellular biosynthetic process|downregulation of cellular biosynthetic process|negative regulation of cellular synthesis|negative regulation of cellular anabolism|negative regulation of cellular biosynthesis|down-regulation of cellular biosynthetic process|negative regulation of cellular formation|down regulation of cellular biosynthetic process owl:Class MONDO:0008284 biolink:NamedThing polyposis of gastric fundus without polyposis coli tmpak2llvmy_mondo_relaxed.owl polyposis of gastric fundus without polyposis coli|fundic gland polyposis OMIM:175505|UMLS:C1868001|MESH:C566775 owl:Class UBERON:0005095 biolink:NamedThing kidney rudiment . tmpak2llvmy_mondo_relaxed.owl kidney anlage owl:Class CHEBI:37175 biolink:NamedThing organic hydride tmpak2llvmy_mondo_relaxed.owl organic hydrides owl:Class MONDO:0018580 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:G40.4|Orphanet:438213|UMLS:CN237608 owl:Class GO:1903959 biolink:NamedThing regulation of anion transmembrane transport Any process that modulates the frequency, rate or extent of anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034765 biolink:NamedThing regulation of ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl regulation of transmembrane ion transport|regulation of ion membrane transport owl:Class MONDO:0019788 biolink:NamedThing non-secreting paraganglioma Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. tmpak2llvmy_mondo_relaxed.owl non-functioning paraganglioma SCTID:764999002|Orphanet:94080 owl:Class MONDO:0000448 biolink:NamedThing paraganglioma A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. tmpak2llvmy_mondo_relaxed.owl paraganglion tumor|Paraganglionic tumor|paraganglioma|neoplasm of paraganglion|chemodectoma|neoplasm of the paraganglion|paragangliomas|Paraganglionic neoplasm|tumor of paraganglion|paraganglion neoplasm|tumor of the paraganglion UMLS:C0030421|OMIMPS:168000|ICD9:239.7|DOID:0050773|NCIT:C3308|MESH:D010235|EFO:1000453|ICDO:8680/1|ONCOTREE:PGNG|SCTID:127027008 owl:Class MONDO:0021568 biolink:NamedThing renal tubule disease A disease that involves the renal tubule. tmpak2llvmy_mondo_relaxed.owl renal tubule disease|renal tubule disease or disorder|renal tubular disease|disease or disorder of renal tubule|disorder of renal tubule|renal tubular disorder|disease of renal tubule UMLS:C0151747|SCTID:95568003|ICD9:588.89 owl:Class MONDO:0005240 biolink:NamedThing kidney disease A disease involving the kidney. tmpak2llvmy_mondo_relaxed.owl kidney disease|disorder of kidney|nephropathy|disease of kidney|renal disease|kidney disease or disorder|renal disorder|disease or disorder of kidney|kidney disorder EFO:0003086|ICD10:N28.9|NCIT:C3149|MESH:D007674|ICD10:N08|ICD9:583.81|SCTID:90708001|UMLS:C0022658|DOID:557 owl:Class HGNC:6266 biolink:NamedThing KCNJ5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015054 biolink:NamedThing iliac endochondral element A iliac bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl iliac element|iliac skeletal element owl:Class UBERON:0010363 biolink:NamedThing endochondral element A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. tmpak2llvmy_mondo_relaxed.owl endochondral replacement element owl:Class MONDO:0010302 biolink:NamedThing Ito hypomelanosis Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. tmpak2llvmy_mondo_relaxed.owl HMI|Ito hypomelanosis|hi syndrome|Incontinentia pigmenti, type I|Incontinentia pigmenti type 1 (formerly)|hypomelanosis of Ito|Incontinentia pigmenti achromians|Incontinentia pigmenti type 1|Incontinentia pigmenti, type I, formerly|IPA|Ito|pigmentary mosaicism, Ito type 2021-12-01 OMIM:300337|GARD:0002992|DOID:3156|Orphanet:435|ICD10:Q87.8 This will be merged in the December release with MONDO:0016985 Nevus of Ito. owl:Class MONDO:0002681 biolink:NamedThing choroid plexus cancer A malignant neoplasm involving the choroid plexus tmpak2llvmy_mondo_relaxed.owl malignant choroid plexus neoplasms|choroid plexus cancer|choroid plexus neoplasm|malignant choroid plexus neoplasm|malignant neoplasm of the choroid plexus|malignant tumor of the choroid plexus|tumor of choroid plexus|malignant choroid plexus tumors|malignant tumor of choroid plexus|cancer of choroid plexus|malignant choroid plexus tumor|malignant neoplasm of choroid plexus NCIT:C4533|DOID:3540 Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 owl:Class MONDO:0000872 biolink:NamedThing B-cell childhood acute lymphoblastic leukemia An acute B-lymphoblastic leukemia occurring in children. tmpak2llvmy_mondo_relaxed.owl B acute lymphoblastic leukemia|childhood B-ALL|B-cell childhood acute lymphocytic leukemia|childhood B acute lymphoblastic leukemia|B cell childhood acute lymphocytic leukemia|childhood precursor B-lymphoblastic leukemia|B cell pediatric ALL|B-cell pediatric acute lymphoid leukemia|B cell pediatric acute lymphocytic leukemia|B cell pediatric acute lymphoblastic leukemia|B-cell pediatric ALL|B-cell childhood ALL|B-cell childhood acute lymphogenous leukemia|B-cell pediatric acute lymphoblastic leukemia|B-cell childhood acute lymphoid leukemia|B-cell pediatric acute lymphogenous leukemia|B cell childhood acute lymphoblastic leukemia|B cell childhood ALL|B-cell pediatric acute lymphocytic leukemia NCIT:C9140|DOID:0080146|UMLS:C0279584|EFO:1001946 owl:Class MONDO:0020511 biolink:NamedThing precursor B-cell acute lymphoblastic leukemia The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl precursor B-lymphoblastic leukemia (B-precursor ALL)|precursor B-cell acute lymphocytic leukemia|B acute lymphoblastic leukemia|B-cell Acute Lymphoblastic Leukemia|B-cell acute lymphocytic leukemia|precursor B-cell acute lymphoblastic leukemia/lymphoma|acute B-cell lymphocytic leukemia|B cell acute lymphocytic leukemia|acute B cell lymphocytic leukemia|B-precursor ALL|B-cell precursor type acute leukemia|B-cell lymphoblastic leukemia|B-cell type acute leukemia|precursor B-lymphoblastic leukemia|B-ALL|B-cell acute lymphoblastic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|B cell precursor type acute leukemia ICD10:C91.0|ICD10:C83.5|Orphanet:99860|NCIT:C8644|ICDO:9836/3 owl:Class MONDO:0019940 biolink:NamedThing hypertrichosis-acromegaloid facial appearance syndrome Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type. tmpak2llvmy_mondo_relaxed.owl acromegaloid facial appearance syndrome and hypertrichosis|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome|haff|acromegaloid hypertrichosis syndrome ICD10:Q87.0|GARD:0000502|UMLS:CN226272|Orphanet:966|SCTID:721837000 https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome owl:Class MONDO:0019280 biolink:NamedThing hypertrichosis Excessive hair growth anywhere on the body. tmpak2llvmy_mondo_relaxed.owl hypertrichosis (disease)|hypertrichosis hypertrichosis (disease) UMLS:C0020555|MESH:D006983|MedDRA:10020864|Orphanet:79365|HP:0000998|ICD10:L68.9|DOID:420|ICD10:L68|ICD10:L68.3|SCTID:29966009 owl:Class MONDO:0018359 biolink:NamedThing neonatal dermatomyositis tmpak2llvmy_mondo_relaxed.owl neonatal DM ICD10:M33.1|Orphanet:398117 owl:Class MONDO:0016367 biolink:NamedThing dermatomyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. tmpak2llvmy_mondo_relaxed.owl adult dermatomyositis|Amyopathic dermatomyositis|dermatopolymyositis|DM|polymyositis with skin involvement|dermatomyositis ICD10:M33.0|MedDRA:10012503|ICD10:M33|SCTID:396230008|NCIT:C26744|ICD10:M33.90|Orphanet:221|MESH:D003882|UMLS:C0011633|GARD:0006263|DOID:10223|ICD10:M33.1|ICD10:M33.9|ICD9:710.3|EFO:0000398 owl:Class CHEBI:8058 biolink:NamedThing phencyclidine A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects. tmpak2llvmy_mondo_relaxed.owl phencyclidine|1-(1-phenylcyclohexyl)piperidine|Phencyclidine|fenciclidina|PCP|phencyclidinum owl:Class GO:0019318 biolink:NamedThing hexose metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpak2llvmy_mondo_relaxed.owl hexose metabolism owl:Class MONDO:0005922 biolink:NamedThing pleural tuberculosis Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl pleura tuberculosis|tuberculous pleurisy in primary progressive tuberculosis|pearly disease|tuberculous pleuritis|tuberculosis of pleura|tuberculous pleurisy ICD9:010.10|ICD9:010.16|NCIT:C26898|ICD9:010.12|ICD10:A15.6|ICD9:010.1|MESH:D014396|ICD9:012.0|DOID:106|SCTID:186172004|ICD9:012.00|EFO:0007446 owl:Class MONDO:0018076 biolink:NamedThing tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. tmpak2llvmy_mondo_relaxed.owl TB|Kochs disease|active tuberculosis|tuberculosis disease MedDRA:10044755|DOID:399|ICD9:017.94|SCTID:56717001|ICD10:A15.A19|UMLS:C0041296|ICD9:017.96|Orphanet:3389|MESH:D014376|UMLS:C0151332|ICD9:017.92|ICD9:017.90|NCIT:C3423|GARD:0007827 https://rarediseases.info.nih.gov/diseases/7827/tuberculosis owl:Class MONDO:0037821 biolink:NamedThing porphyrin metabolism disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. tmpak2llvmy_mondo_relaxed.owl porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin metabolism SCTID:29094004 owl:Class MONDO:0003000 biolink:NamedThing central nervous system germ cell tumor A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. tmpak2llvmy_mondo_relaxed.owl CNS germ cell tumor|germ cell neoplasm of CNS|germ cell tumor of CNS|germ cell tumor of the central nervous system|germ cell neoplasm of the central nervous system|CNS germ cell neoplasm|germ cell tumor of central nervous system|germ cell neoplasm of the CNS|germ cell neoplasm of central nervous system|central nervous system rare germ cell tumor|germ cell tumor of the CNS|central nervous system germ cell tumor|central nervous system germ cell neoplasm NCIT:C5461|UMLS:C1332880|DOID:4439 owl:Class UBERON:0005745 biolink:NamedThing optic foramen An opening in the skull through which cranial nerve II passes.[MP]. tmpak2llvmy_mondo_relaxed.owl optic nerve (II) foramen|optic foramen|optic nerve foramen|canalis opticus|optic canal|foramen opticum ossis sphenoidalis owl:Class PATO:0000460 biolink:NamedThing abnormal A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. tmpak2llvmy_mondo_relaxed.owl atypical|aberrant|atypia|defective owl:Class PATO:0000069 biolink:NamedThing deviation (from_normal) A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011476 biolink:NamedThing MHC class I deficiency Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. tmpak2llvmy_mondo_relaxed.owl BLS, type I|Bare lymphocyte syndrome, type 1|BARE lymphocyte syndrome, type I|immunodeficiency by defective expression of HLA class 1|BLS type 1|immunodeficiency by defective expression of HLA class type 1|BLSI|bare lymphocyte syndrome type I|Bare lymphocyte syndrome type 1|HLA Class 1 deficiency|Bls, type 1|HLA CLASS I deficiency GARD:0008427|SCTID:725136003|OMIM:604571|UMLS:C1858266|ICD10:D81.6|DOID:0060009|Orphanet:34592 owl:Class UBERON:0003583 biolink:NamedThing larynx connective tissue A portion of connective tissue that is part of a larynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl larynx portion of connective tissue|connective tissue of larynx|portion of connective tissue of larynx|textus connectivus of larynx|laryngeal connective tissue|larynx textus connectivus owl:Class GO:1900131 biolink:NamedThing negative regulation of lipid binding Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. tmpak2llvmy_mondo_relaxed.owl inhibition of lipid binding|down regulation of lipid binding|down-regulation of lipid binding|downregulation of lipid binding owl:Class GO:1900130 biolink:NamedThing regulation of lipid binding Any process that modulates the frequency, rate or extent of lipid binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008566 biolink:NamedThing thyroid cancer, nonmedullary, 2 tmpak2llvmy_mondo_relaxed.owl FTC|thyroid cancer, nonmedullary, type 2|thyroid cancer, nonmedullary, 2|thyroid cancer, follicular|thyroid carcinoma, follicular|NMTC2 MESH:C572845|GARD:0005206|OMIM:188470 owl:Class MONDO:0017895 biolink:NamedThing familial papillary or follicular thyroid carcinoma A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. tmpak2llvmy_mondo_relaxed.owl FNMTC|familial pure nonmedullary thyroid carcinoma|familial nonmedullary thyroid gland carcinoma ICD10:C73|NCIT:C118829|Orphanet:319487|UMLS:CN227215|UMLS:C3896673 owl:Class GO:1902742 biolink:NamedThing apoptotic process involved in development Any apoptotic process that is involved in anatomical structure development. tmpak2llvmy_mondo_relaxed.owl induction of apoptosis by p53 involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic process involved in anatomical structure development|apoptotic process involved in development of an anatomical structure|apoptosis signaling involved in anatomical structure development|apoptosis involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|induction of apoptosis involved in anatomical structure development|apoptotic cell death involved in development of an anatomical structure|apoptotic cell death involved in anatomical structure development|apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|induction of apoptosis by p53 involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|programmed cell death by apoptosis involved in anatomical structure development|apoptosis activator activity involved in anatomical structure development|induction of apoptosis involved in development of an anatomical structure|type I programmed cell death involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|apoptosis signaling involved in development of an anatomical structure|programmed cell death by apoptosis involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptosis activator activity involved in development of an anatomical structure|activation of apoptosis involved in anatomical structure development|apoptotic program involved in anatomical structure development owl:Class GO:0006915 biolink:NamedThing apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpak2llvmy_mondo_relaxed.owl caspase-dependent programmed cell death|cellular suicide|apoptotic cell death|programmed cell death by apoptosis|activation of apoptosis|apoptosis|signaling (initiator) caspase activity|induction of apoptosis by p53|apoptotic program|type I programmed cell death|cell suicide|commitment to apoptosis|apoptosis signaling|apoptotic programmed cell death|apoptosis activator activity|induction of apoptosis owl:Class GO:0002712 biolink:NamedThing regulation of B cell mediated immunity Any process that modulates the frequency, rate, or extent of B cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl regulation of B-lymphocyte mediated immunity|regulation of B lymphocyte mediated immunity|regulation of B-cell mediated immunity owl:Class GO:0002706 biolink:NamedThing regulation of lymphocyte mediated immunity Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014092 biolink:NamedThing schizophrenia 18 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. tmpak2llvmy_mondo_relaxed.owl schizoaffective disorder|SCZD18|schizophrenia type 18|schizophrenia 18 with or without an affective disorder|schizophrenia 18|chromosome 7q36.3 Duplication syndrome, 362-Kb DOID:0070093|OMIM:615232|UMLS:C3808913 owl:Class UBERON:0001579 biolink:NamedThing olfactory nerve Nerve that carries information from the olfactory epithelium to the olfactory bulb[Butler and Hodos]. tmpak2llvmy_mondo_relaxed.owl olfactoria fila|fila olfactoria|nerve of smell|olfactory nerve [I]|nervus olfactorius [i]|nervus olfactorius|nerve I|first cranial nerve|cranial nerve I|olfactory I|olfactory i nerve|CN-I|olfactory fila|1n owl:Class MONDO:0005436 biolink:NamedThing postoperative ventricular dysfunction Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. tmpak2llvmy_mondo_relaxed.owl EFO:0004889 owl:Class MONDO:0045001 biolink:NamedThing cardiac ventricle disease A disease or disorder that involves the cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl cardiac ventricle disease|disease or disorder of cardiac ventricle|disease of cardiac ventricle|cardiac ventricle disease or disorder|disorder of cardiac ventricle UMLS:C1562298|SCTID:415991003 owl:Class CL:0000051 biolink:NamedThing common lymphoid progenitor A oligopotent progenitor cell committed to the lymphoid lineage. tmpak2llvmy_mondo_relaxed.owl lymphopoietic stem cell|ELP|common lymphocyte progenitor|CLP|lymphoid stem cell|committed lymphopoietic stem cell|common lymphoid precursor|early lymphocyte progenitor|common lymphocyte precursor CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. CL:0000044 cell owl:Class CL:0002032 biolink:NamedThing hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. tmpak2llvmy_mondo_relaxed.owl This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). tmeehan 2010-01-06T03:43:27Z cell owl:Class MONDO:0004016 biolink:NamedThing pineal region mature teratoma tmpak2llvmy_mondo_relaxed.owl pineal area mature teratoma|mature teratoma of pineal area|mature teratoma of pineal region|mature teratoma of the pineal area|mature teratoma of the pineal region DOID:6857|UMLS:C1335417|NCIT:C6754 owl:Class MONDO:0004015 biolink:NamedThing pineal region teratoma A mature or immature teratoma that arises in the pineal region. tmpak2llvmy_mondo_relaxed.owl teratoma of the pineal region|teratoma of pineal area|pineal area teratoma|teratoma of pineal region|teratoma of the pineal area DOID:6856|UMLS:C1335419|NCIT:C6753 owl:Class MONDO:0021108 biolink:NamedThing meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. tmpak2llvmy_mondo_relaxed.owl meningitis (disease)|meningitis|inflammation of meninx|meninx inflammation meningitis (disease) NCIT:C26828|SCTID:7180009|ICD9:322.9 owl:Class MONDO:0008832 biolink:NamedThing right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. tmpak2llvmy_mondo_relaxed.owl splenic agenesis syndrome|right atrial isomerism|right atrial isomerism (disease)|right isomerism|Ivemark syndrome|Polyasplenia|RAI|heterotaxy, Visceroatrial, autosomal recessive|Vah, autosomal recessive|bilateral right-sidedness sequence|asplenia syndrome|polysplenia syndrome|asplenia with cardiovascular anomalies right atrial isomerism (disease) MedDRA:10068335|GARD:0006795|ICD10:Q20.6|HP:0011536|OMIM:208530|DOID:0060856|Orphanet:97548 owl:Class MONDO:0009856 biolink:NamedThing Peters plus syndrome Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. tmpak2llvmy_mondo_relaxed.owl Krause-Kivlin syndrome|Peters anomaly-short limb dwarfism syndrome|Peters anomaly with short-limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Peters anomaly with short limb dwarfism|Peters-plus syndrome SCTID:449817000|OMIM:261540|NCIT:C123436|Orphanet:709|GARD:0008422|DOID:0080201|ICD10:Q13.4|DOID:0070312|UMLS:C0796012|ICD9:743.44|MESH:C537617 https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome owl:Class FOODON:03309823 biolink:NamedThing shrimp paste definition: Shrimp paste or shrimp sauce is a fermented condiment commonly used in Southeast Asian, Northeastern South Asian and Southern Chinese cuisines. tmpak2llvmy_mondo_relaxed.owl shrimp sauce|kapi ngapi terasi belacan belachan blachang mắm ruốc mắm tép mắm tôm bagoong alamang bagoong aramang haa1 zoeng3/haa1 gou1 hom ha/hae ko sidol SUBSET_SIREN:F9823 SIREN DB annotation: * has quality 'semisolid' (http://purl.obolibrary.org/obo/FOODON_03430144) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'whole animal or most parts used' (http://purl.obolibrary.org/obo/FOODON_03420173) * formed as a result of 'fermentation/modification process, multiple component' (http://purl.obolibrary.org/obo/FOODON_03460128) * formed as a result of 'water removal process' (http://purl.obolibrary.org/obo/FOODON_03460138) * formed as a result of 'salted' (http://purl.obolibrary.org/obo/FOODON_03460173) * formed as a result of 'preservation by fermentation' (http://purl.obolibrary.org/obo/FOODON_03470104) wikipedia:Shrimp_pastse Need to set languages of synonyms (japanese/thai ?) http://langual.org subset_siren http://orcid.org/0000-0002-1816-4260 owl:Class FOODON:00001054 biolink:NamedThing fermented fish or seafood food product tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000869 biolink:NamedThing area of scrub An area of a planet's surface which is primarily covered by a shrubs, young trees, or stunted trees.. The surfaces of this area are in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpak2llvmy_mondo_relaxed.owl area of shrub owl:Class ENVO:01001293 biolink:NamedThing bush area A vegetated area which has not been cleared or is sparsely settled, usually scrub-covered or forested tmpak2llvmy_mondo_relaxed.owl the bush owl:Class MONDO:0012734 biolink:NamedThing SERKAL syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. tmpak2llvmy_mondo_relaxed.owl 46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL|46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|SERKAL syndrome NCIT:C123726|ICD10:Q87.8|UMLS:C2678492|MESH:C567517|SCTID:723720008|GARD:0010302|Orphanet:139466|OMIM:611812 owl:Class MONDO:0017965 biolink:NamedThing syndrome with 46,XX disorder of sex development tmpak2llvmy_mondo_relaxed.owl syndrome with 46,XX DSD 2022-03-01 Orphanet:325109|UMLS:CN204115 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class CL:0002586 biolink:NamedThing retinal pigment epithelial cell An epithelial cell of the retinal pigmented epithelium. tmpak2llvmy_mondo_relaxed.owl FMA:75802|BTO:0004910 tmeehan 2011-03-06T03:37:09Z cell owl:Class CL:0000149 biolink:NamedThing visual pigment cell tmpak2llvmy_mondo_relaxed.owl pigment cell cell owl:Class GO:0046321 biolink:NamedThing positive regulation of fatty acid oxidation Any process that activates or increases the frequency, rate or extent of fatty acid oxidation. tmpak2llvmy_mondo_relaxed.owl activation of fatty acid oxidation|stimulation of fatty acid oxidation|up regulation of fatty acid oxidation|up-regulation of fatty acid oxidation|upregulation of fatty acid oxidation owl:Class GO:0046320 biolink:NamedThing regulation of fatty acid oxidation Any process that modulates the frequency, rate or extent of fatty acid oxidation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006700 biolink:NamedThing choroid cancer A malignant neoplasm involving the optic choroid. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of choroid|optic choroid cancer|malignant neoplasm of optic choroid|choroidal tumor|malignant neoplasm of the choroid|choroid neoplasm|malignant choroid neoplasm|malignant optic choroid neoplasm|cancer of optic choroid|malignant tumor of choroid|malignant choroid tumor|malignant tumor of the choroid MESH:D002830|NCIT:C3566|ICD10:C69.3|ICD9:190.6|SCTID:363466008|MedDRA:10057405|DOID:12759|EFO:1000866 owl:Class MONDO:0002095 biolink:NamedThing vascular cancer A malignant neoplasm arising from the blood vessels. tmpak2llvmy_mondo_relaxed.owl pulmonary artery cancer|malignant vascular tumor|renal vein leiomyosarcoma|malignant vascular neoplasm|blood vessel tumor|neoplasm of great vessel|malignant vasculature neoplasm|malignant tumor of pulmonary vein|malignant neoplasm of vasculature|leiomyosarcoma of the renal vein|blood vessel tumors|blood vessel tumour disorder|vascular tumors|malignant blood vessel neoplasm|malignant tumor of pulmonary artery|malignant blood vessel tumor|blood vessel tumors (morphologic abnormality)|cancer of vasculature|pulmonary vein malignant neoplasm|pulmonary artery malignant neoplasm|blood vessel neoplasm|Haemangiomatous tumour|vasculature cancer|vascular tissue neoplasm|blood vessel tumor (morphologic abnormality) DOID:175|MESH:D009383|NCIT:C8538 Editor note: see also NCIT:C7390 owl:Class NCBITaxon:71585 biolink:NamedThing Balantioides coli tmpak2llvmy_mondo_relaxed.owl Balantidium coli|Paramecium coli|Neobalantidium coli GC_ID:1|PMID:25185665|PMID:23556024 ncbi_taxonomy owl:Class NCBITaxon:2038102 biolink:NamedThing Balantioides tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015065 biolink:NamedThing ileal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. tmpak2llvmy_mondo_relaxed.owl ileal neuroendocrine neoplasm|ileal neuroendocrine tumor NCIT:C135092|UMLS:CN197358|Orphanet:100078 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0006801 biolink:NamedThing ileal neoplasm A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. tmpak2llvmy_mondo_relaxed.owl ileum neoplasm (disease)|neoplasm of the ileum|ileum neoplasm|ileum tumor|tumor of the ileum|ileal tumor|neoplasm of ileum|tumor of ileum NCIT:C3130|SCTID:126835002|EFO:1000981|DOID:10156|UMLS:C0020876|MESH:D007078 MONDO:0021376 owl:Class MONDO:0012418 biolink:NamedThing autosomal recessive nonsyndromic deafness 62 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 62|autosomal recessive nonsyndromic deafness type 62|autosomal recessive deafness 62|DFNB62 OMIM:610143|UMLS:C1857820|DOID:0110514|MESH:C565719|ICD10:H90.3 owl:Class UBERON:0010130 biolink:NamedThing embryonic autopod plate The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) tmpak2llvmy_mondo_relaxed.owl autopod plate|limb plate owl:Class MONDO:0011972 biolink:NamedThing ovarian hyperstimulation syndrome A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. tmpak2llvmy_mondo_relaxed.owl ovarian hyperstimulation syndrome, familial gestational spontaneous|ovarian hyperstimulation syndrome|OHSS|secondary Meig's syndrome ICD10:N98.1|OMIM:608115|SCTID:129635004|MedDRA:10033266|Orphanet:64739|ICD9:256.1|DOID:5425|MESH:D016471|UMLS:C0085083 owl:Class MONDO:0010714 biolink:NamedThing Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. tmpak2llvmy_mondo_relaxed.owl HLD1|leukodystrophy, hypomyelinating, 1|Pelizaeus-Merzbacher brain sclerosis|PMD|diffuse familial brain sclerosis|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher disease|leukodystrophy, sudanophilic|Pelizaeus-Merzbacher disease|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher brain sclerosis|hypomyelinating leukodystrophy 1 SCTID:64855000|GARD:0004265|OMIM:312080|UMLS:C0205711|MedDRA:10067610|MESH:D020371|DOID:3210|NCIT:C75487|Orphanet:702|ICD10:E75.2 https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease owl:Class NCBITaxon:504568 biolink:NamedThing Salmoninae tmpak2llvmy_mondo_relaxed.owl trouts, salmons & chars GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8015 biolink:NamedThing Salmonidae tmpak2llvmy_mondo_relaxed.owl salmonids GC_ID:1|PMID:15062801 ncbi_taxonomy owl:Class MONDO:0014848 biolink:NamedThing TELO2-related intellectual disability-neurodevelopmental disorder tmpak2llvmy_mondo_relaxed.owl YHFS|you-Hoover-Fong syndrome EFO:0009061|OMIM:616954|Orphanet:488642|UMLS:C4310778 owl:Class MONDO:0016928 biolink:NamedThing partial duplication of chromosome 7 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 7|partial duplication of chromosome type 7 Orphanet:262633|SCTID:726346004 owl:Class HP:0040084 biolink:NamedThing Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. tmpak2llvmy_mondo_relaxed.owl Abnormal plasma renin|Abnormal circulating renin UMLS:C4021038 HPO:skoehler human_phenotype owl:Class HP:0000847 biolink:NamedThing Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the renin-aldosterone axis UMLS:C4021793 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. HP:0003350 human_phenotype owl:Class MONDO:0012775 biolink:NamedThing thrombocytopenia 4 Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia type 4|thrombocytopenia caused by mutation in CYCS|CYCS thrombocytopenia|THC4|thrombocytopenia 4|thrombocytopenia, autosomal dominant, 4 UMLS:C2677608|OMIM:612004|MESH:C567438 owl:Class MONDO:0015679 biolink:NamedThing autosomal thrombocytopenia with normal platelets tmpak2llvmy_mondo_relaxed.owl UMLS:CN200175|ICD10:D69.4|Orphanet:168629 owl:Class CHEBI:35137 biolink:NamedThing hemoprotein Conjugated proteins containing heme as the prosthetic group. tmpak2llvmy_mondo_relaxed.owl haemoprotein|hemeproteins|haem protein|Haemoprotein|hemoproteins|heme protein|Haemprotein|hemoprotein owl:Class CHEBI:35136 biolink:NamedThing iron protein tmpak2llvmy_mondo_relaxed.owl iron proteins|iron-containing proteins|iron protein owl:Class MONDO:0043653 biolink:NamedThing herpes labialis A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. tmpak2llvmy_mondo_relaxed.owl fever blister|Sore, cold|Sores, cold|blister, fever|herpes labialis|blisters, fever|cold sore|labial Herpes simplex|herpes simplex labialis|Herpes simplex, labial|fever blisters|cold sores EFO:1001347|SCTID:1475003|NCIT:C34695|MESH:D006560|UMLS:C0019345 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0019271 biolink:NamedThing acrokeratoderma tmpak2llvmy_mondo_relaxed.owl ICD10:Q82.8|Orphanet:79356 owl:Class UBERON:0003396 biolink:NamedThing mesentery of colon A mesentery that is part of a colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestinal mesentery|mesentery of large bowel|mesocolon|large bowel mesentery|colon mesentery|mesentery of large intestine owl:Class UBERON:0007826 biolink:NamedThing peritoneal mesentery Mesentery that is located in the peritoneum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016469 biolink:NamedThing Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. tmpak2llvmy_mondo_relaxed.owl EDS, vascular-like type UMLS:CN201458|ICD10:Q79.6|SCTID:720862007|Orphanet:230845 owl:Class MONDO:0005385 biolink:NamedThing vascular disease A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. tmpak2llvmy_mondo_relaxed.owl disorder of vasculature|disease or disorder of vasculature|vascular disorder|vasculature disease or disorder|disease of vasculature|vascular tissue disease|vasculopathy|vasculature disease MESH:D014652|EFO:0004264|ICD9:442.9|UMLS:C0042373|ICD10:I72.9|DOID:178|NCIT:C35117|SCTID:27550009 The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established. https://github.com/monarch-initiative/mondo/issues/3602 owl:Class GO:1902532 biolink:NamedThing negative regulation of intracellular signal transduction Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. tmpak2llvmy_mondo_relaxed.owl down-regulation of intracellular signaling pathway|negative regulation of intracellular signal transduction pathway|inhibition of intracellular signal transduction pathway|down regulation of intracellular signaling cascade|down-regulation of intracellular signal transduction pathway|downregulation of intracellular signaling cascade|down regulation of intracellular signal transduction|down-regulation of intracellular signaling chain|downregulation of intracellular signaling pathway|downregulation of intracellular signaling chain|down-regulation of signal transmission via intracellular cascade|downregulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction|negative regulation of intracellular signaling pathway|down-regulation of intracellular signaling cascade|inhibition of intracellular signaling chain|inhibition of intracellular signaling cascade|negative regulation of intracellular signaling chain|negative regulation of signal transduction via intracellular signaling cascade|inhibition of signal transmission via intracellular cascade|down regulation of signal transmission via intracellular cascade|negative regulation of signal transmission via intracellular cascade|down regulation of signal transduction via intracellular signaling cascade|down regulation of intracellular signal transduction pathway|downregulation of intracellular signal transduction|down-regulation of signal transduction via intracellular signaling cascade|negative regulation of intracellular signaling cascade|downregulation of signal transmission via intracellular cascade|negative regulation of intracellular protein kinase cascade|down regulation of intracellular signaling chain|inhibition of intracellular signal transduction|inhibition of intracellular signaling pathway|inhibition of signal transduction via intracellular signaling cascade|down regulation of intracellular signaling pathway|downregulation of intracellular signal transduction pathway owl:Class HP:0006000 biolink:NamedThing Ureteral obstruction Obstruction of the flow of urine through the ureter. tmpak2llvmy_mondo_relaxed.owl Fyler:4492|UMLS:C0041956|MSH:D014517|SNOMEDCT_US:20018005 human_phenotype owl:Class HP:0025634 biolink:NamedThing Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpak2llvmy_mondo_relaxed.owl 2019-04-26 17:43:08+00:00 HPO:probinson human_phenotype owl:Class MONDO:0008449 biolink:NamedThing spina bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. tmpak2llvmy_mondo_relaxed.owl spinal meningocele|NTD|rachischisis|spina bifida|neural tube defects, susceptibility to|spinal myelomeningocele|spina bifida (disease)|spinal myelocele spina bifida (disease) EFO:0003105|ICD9:741|SCTID:67531005|DOID:0080016|HP:0002414|NCIT:C101214|MESH:D016135 owl:Class MONDO:0002320 biolink:NamedThing congenital nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. tmpak2llvmy_mondo_relaxed.owl congenital abnormality of the nervous system|congenital neurologic anomaly|congenital nervous system disorder NCIT:C97172|ICD9:742|DOID:2490 owl:Class MONDO:0013453 biolink:NamedThing Leber congenital amaurosis 8 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene. tmpak2llvmy_mondo_relaxed.owl CRB1 Leber congenital amaurosis|LCA8|Leber congenital amaurosis caused by mutation in CRB1|Leber congenital amaurosis 8|Leber congenital amaurosis type 8 UMLS:C3151202|OMIM:613835|ICD10:H35.5|DOID:0110079|GARD:0010881 https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8 owl:Class MONDO:0018998 biolink:NamedThing Leber congenital amaurosis Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. tmpak2llvmy_mondo_relaxed.owl congenital absence of the rods and cones|Leber congenital amaurosis|Leber's disease|LCA|Leber's congenital amaurosis|amaurosis congenita of Leber|Leber's congenital tapetoretinal dysplasia|congenital retinal blindness|Leber's amaurosis|Leber's congenital tapetoretinal degeneration MedDRA:10070667|ICD10:H35.5|GARD:0000634|NCIT:C129075|DOID:14791|Orphanet:65|UMLS:C0339527|MESH:D057130|OMIMPS:204000|SCTID:193413001 owl:Class MONDO:0015431 biolink:NamedThing ring chromosome 10 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. tmpak2llvmy_mondo_relaxed.owl Ring chromosome type 10|Ring 10|r10|chromosome 10 ring|Ring chromosome 10 syndrome MESH:C538086|UMLS:CN037257|Orphanet:1438|GARD:0001322|UMLS:C0265438|ICD10:Q93.2|SCTID:86997002 https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10 owl:Class MONDO:0700091 biolink:NamedThing ring chromosome anomaly Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpak2llvmy_mondo_relaxed.owl supernumerary circular chromosome MESH:D012303|NCIT:C3360|UMLS:C0035639 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0000745 biolink:NamedThing cardiac arrest Cessation of breathing and/or cardiac function. tmpak2llvmy_mondo_relaxed.owl circulatory arrest|cardiopulmonary arrest SCTID:410429000|ICD9:427.5|UMLS:C0018790|DOID:0060319|UMLS:C0444720|MESH:D006323|ICD10:I46 owl:Class MONDO:0007263 biolink:NamedThing cardiac rhythm disease Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. tmpak2llvmy_mondo_relaxed.owl arrhythmia ICD9:427.9|NCIT:C2881|EFO:0004269|SCTID:698247007 owl:Class MONDO:0018589 biolink:NamedThing AApoAIV amyloidosis tmpak2llvmy_mondo_relaxed.owl apolipoprotein A-IV amyloidosis Orphanet:439232|ICD10:E85.8 owl:Class MONDO:0019065 biolink:NamedThing amyloidosis A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. tmpak2llvmy_mondo_relaxed.owl amyloidoses|amyloid disease|amyloid|amyloidosis|amyloidosis (disease) amyloidosis (disease) ICD10:E85.8|ICD10:E85|ICD10:E85.3|DOID:9120|ICD10:E85.9|ICD9:277.3|EFO:1001875|ICD10:E85.2|MedDRA:10002022|ICD10:E85.0|NCIT:C2868|ICD10:E85.4|SCTID:17602002|ICD9:277.30|UMLS:C0002726|MESH:D000686|Orphanet:69|ONCOTREE:MIDDA|HP:0011034|ICD10:E85.1 Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes owl:Class CL:0000703 biolink:NamedThing sustentacular cell Cell that provides some or all mechanical, nutritional and phagocytic support to their neighbors. tmpak2llvmy_mondo_relaxed.owl BTO:0002315 cell owl:Class CL:0000630 biolink:NamedThing supportive cell A cell whose primary function is to support other cell types. tmpak2llvmy_mondo_relaxed.owl BTO:0002315 cell owl:Class UBERON:0015871 biolink:NamedThing facial lymph node Any of the lymph nodes that are part of a face. tmpak2llvmy_mondo_relaxed.owl buccal lymph node owl:Class UBERON:0000029 biolink:NamedThing lymph node Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph. tmpak2llvmy_mondo_relaxed.owl lymph gland|nodus lymphaticus owl:Class HP:0004338 biolink:NamedThing Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormality of aromatic amino acid family metabolism UMLS:C4025352 peter 2008-03-08T07:55:00Z human_phenotype owl:Class MONDO:0009351 biolink:NamedThing homocarnosinosis Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl homocarnosinosis|Homocarnosinase deficiency ICD9:277.89|Orphanet:2168|ICD10:E72.8|OMIM:236130|MESH:C535328|SCTID:61764000|UMLS:C0268632|UMLS:C3495554|GARD:0002730|DOID:0060177 owl:Class MONDO:0000698 biolink:NamedThing gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. tmpak2llvmy_mondo_relaxed.owl DOID:0060176 owl:Class ECTO:9001811 biolink:NamedThing exposure to protic solvent An exposure to protic solvent. tmpak2llvmy_mondo_relaxed.owl exposure to protic solvent owl:Class UBERON:0008788 biolink:NamedThing posterior cranial fossa The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE. tmpak2llvmy_mondo_relaxed.owl fossa cranii posterior|posterior fossa owl:Class UBERON:0008789 biolink:NamedThing cranial fossa Any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020370 biolink:NamedThing Cogan-Reese syndrome Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. tmpak2llvmy_mondo_relaxed.owl GARD:0006125|NCIT:C84644|UMLS:C1168173|Orphanet:98980|DOID:0060217|MedDRA:10059200|SCTID:404633004|ICD10:H21.2 https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome owl:Class MONDO:0018988 biolink:NamedThing iridocorneal endothelial syndrome Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications tmpak2llvmy_mondo_relaxed.owl ICE syndrome UMLS:C1096100|UMLS:CN205427|MedDRA:10053678|ICD10:H21.1|Orphanet:64734|SCTID:129623003|NCIT:C84792|GARD:0000060|MESH:D057129 owl:Class MONDO:0009115 biolink:NamedThing congenital lactase deficiency Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. tmpak2llvmy_mondo_relaxed.owl Alactasia, congenital|congenital lactase deficiency|disaccharide intolerance 2|lactase deficiency, congenital GARD:0012311|SCTID:5388008|OMIM:223000|Orphanet:53690|DOID:0111646|ICD10:E73.0|MESH:C562600|ICD9:271.3 https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency owl:Class MONDO:0015188 biolink:NamedThing metabolic disease with intestinal involvement A metabolic disease that involves the intestine. tmpak2llvmy_mondo_relaxed.owl intestine metabolic disease|metabolic disease of intestine 2022-03-01 Orphanet:104013|UMLS:CN197528 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0017319 biolink:NamedThing hereditary elliptocytosis Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. tmpak2llvmy_mondo_relaxed.owl ovalocytosis|Hereditary ovalocytosis|he|congenital elliptocytosis UMLS:C0013902|ICD10:D58.1|MedDRA:10014490|Orphanet:288|DOID:2373|ICD9:282.1|NCIT:C35882|SCTID:178935009|GARD:0006621|MESH:D004612 owl:Class MONDO:0020101 biolink:NamedThing constitutional hemolytic anemia due to membrane defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. tmpak2llvmy_mondo_relaxed.owl hemolytic anemia due to erythrocyte membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly|hemolytic anemia due to membrane defect|anemia due to membrane defect 2022-03-01 SCTID:111575000|NCIT:C101218|UMLS:CN227780|Orphanet:98364 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0015232 biolink:NamedThing radial deficiency-tibial hypoplasia syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q73.8|Orphanet:1121|UMLS:CN226642 owl:Class MONDO:0019054 biolink:NamedThing congenital limb malformation tmpak2llvmy_mondo_relaxed.owl congenital limb malformation Orphanet:68378 owl:Class FOODON:03411201 biolink:NamedThing dairy cow A dairy cow is an adult female member of a dairy cattle breed tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007023 biolink:NamedThing adult organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. tmpak2llvmy_mondo_relaxed.owl adult|adults owl:Class UBERON:0010329 biolink:NamedThing paired limb/fin bud mesenchyme Mesenchyme that is part of a limb/fin bud. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010377 biolink:NamedThing mesenchyme from somatopleure Mesenchyme that develops_from a somatopleure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014753 biolink:NamedThing autosomal recessive optic atrophy tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic optic atrophy|autosomal recessive isolated optic atrophy Orphanet:98676|ICD10:H47.2|UMLS:CN229293 ORDO treats as isolated but includes syndromic forms as OMIM xrefs owl:Class MONDO:0016160 biolink:NamedThing X-linked intellectual disability-epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN226857|Orphanet:2076 owl:Class MONDO:0015653 biolink:NamedThing monogenic epilepsy tmpak2llvmy_mondo_relaxed.owl monogenic disease with epilepsy Orphanet:166472|UMLS:CN200063 owl:Class MONDO:0060627 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 15 tmpak2llvmy_mondo_relaxed.owl developmental delay, epilepsy, cerebellar atrophy, and osteopenia|GPIBD15|glycosylphosphatidylinositol biosynthesis defect 15 UMLS:C4540520|Orphanet:529665|OMIM:617810 owl:Class UBERON:0003331 biolink:NamedThing submucosa of colon A submucosa that is part of a colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl colonic submucosa|colon submucosa|submucosa of large bowel|large bowel submucosa owl:Class CL:0002078 biolink:NamedThing meso-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. tmpak2llvmy_mondo_relaxed.owl epithelial mesenchymal cell FMA:69076 tmeehan 2010-06-29T03:49:14Z cell owl:Class MONDO:0009724 biolink:NamedThing nail-patella-like renal disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. tmpak2llvmy_mondo_relaxed.owl glomerular basement Membrane disease, nail-patella syndrome type|nail-patella-like renal disease|nail patella like renal disease|Salcedo syndrome ICD9:756.89|GARD:0000321|OMIM:256020|Orphanet:2613|MESH:C537228|UMLS:C0403548|SCTID:236527004 owl:Class MONDO:0015163 biolink:NamedThing primary glomerular disease tmpak2llvmy_mondo_relaxed.owl Orphanet:102373|UMLS:CN197503 owl:Class MONDO:0020215 biolink:NamedThing syndromic corneal dystrophy A corneal dystrophy (disease) that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with corneal dystrophy (disease)|syndromic corneal dystrophy (disease) UMLS:CN227823|Orphanet:98628 owl:Class ENVO:00002030 biolink:NamedThing aquatic biome A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001787 biolink:NamedThing aquatic ecosystem tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004243 biolink:NamedThing prostate gland smooth muscle A portion of smooth muscle tissue that is part of a prostate gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl prostate smooth muscle|non-striated muscle of prostate gland|prostate involuntary muscle|smooth muscle tissue of prostate|prostate gland non-striated muscle|prostate non-striated muscle|substantia muscularis prostatae|prostate smooth muscle tissue|smooth muscle of prostate|prostate gland involuntary muscle|involuntary muscle of prostate|involuntary muscle of prostate gland|smooth muscle of prostate gland|smooth muscle tissue of prostate gland|prostate gland smooth muscle tissue|non-striated muscle of prostate|muscular tissue of prostate owl:Class UBERON:0001135 biolink:NamedThing smooth muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. tmpak2llvmy_mondo_relaxed.owl textus muscularis levis; textus muscularis nonstriatus|textus muscularis nonstriatus|smooth muscle|visceral muscle|non-striated muscle|involuntary muscle|visceral muscle tissue owl:Class UBERON:0003086 biolink:NamedThing caudal artery Extension of the dorsal aorta in the tail. tmpak2llvmy_mondo_relaxed.owl CA owl:Class GO:1904227 biolink:NamedThing negative regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpak2llvmy_mondo_relaxed.owl down regulation of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate|inhibition of glycogen synthase activity, transferring glucose-1-phosphate|downregulation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class MONDO:0004148 biolink:NamedThing gallbladder papillary neoplasm with an associated invasive carcinoma An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl gallbladder papillary carcinoma|intracystic papillary neoplasm with an associated invasive carcinoma|papillary carcinoma of the gallbladder|gallbladder papillary neoplasm with an associated invasive carcinoma|papillary carcinoma of gallbladder|gall bladder papillary carcinoma|gallbladder papillary neoplasm with an associated invasive cancer NCIT:C5743|UMLS:C1333753|DOID:7221|ICDO:8503/3 owl:Class MONDO:0006509 biolink:NamedThing papillary carcinoma A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. tmpak2llvmy_mondo_relaxed.owl papillary carcinoma|papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma (morphologic abnormality) DOID:3113|MESH:D002291|UMLS:C0007133|EFO:1000646|NCIT:C2927|ICDO:8050/3 owl:Class MONDO:0006344 biolink:NamedThing ovarian yolk sac tumor A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. tmpak2llvmy_mondo_relaxed.owl yolk Sac tumor of the ovary|ovarian endodermal sinus neoplasm|ovarian yolk Sac neoplasm|yolk Sac neoplasm of ovary|ovary yolk sac tumor|yolk sac tumor|yolk Sac tumor of ovary|germ cell endodermal sinus tumor of the ovary|yolk Sac neoplasm of the ovary|ovarian germ cell endodermal sinus neoplasm|ovarian endodermal sinus tumor|endodermal sinus tumor of ovary|endodermal sinus tumor of the ovary|germ cell endodermal sinus tumor of ovary|germ cell endodermal sinus neoplasm of the ovary|ovarian yolk sac tumor|endodermal sinus neoplasm of ovary|ovarian germ cell endodermal sinus tumor|endodermal sinus neoplasm of the ovary|germ cell endodermal sinus neoplasm of ovary SCTID:254876005|DOID:5350|ONCOTREE:OYST|EFO:1000437|UMLS:C0346188|NCIT:C8107 owl:Class MONDO:0016096 biolink:NamedThing malignant non-dysgerminomatous germ cell tumor of ovary A malignant germ cell tumor other than dysgerminoma that arises from the ovary. tmpak2llvmy_mondo_relaxed.owl ovarian non-dysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary|ovarian Nondysgerminomatous germ cell tumor ICD10:C56|NCIT:C102870|UMLS:CN200863|UMLS:C3640983|Orphanet:206538 owl:Class MONDO:0012400 biolink:NamedThing cortical dysplasia-focal epilepsy syndrome An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. tmpak2llvmy_mondo_relaxed.owl CDFES|Pitt-Hopkins-like syndrome 1|cortical dysplasia-focal epilepsy syndrome|PTHSL1|CDFE syndrome OMIM:610042|ICD10:Q04.8|UMLS:C1864887|NCIT:C133743|Orphanet:163681|DOID:0090130 owl:Class MONDO:0017961 biolink:NamedThing 46,XX disorder of gonadal development tmpak2llvmy_mondo_relaxed.owl Orphanet:325055|UMLS:CN227225 owl:Class MONDO:0017576 biolink:NamedThing 46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. tmpak2llvmy_mondo_relaxed.owl 46,XX DSD|46,XX differences of Sex development|female pseudohermaphroditism|46,XX disorders of Sex development ICD10:Q56.2|MESH:D058489|NCIT:C127169|UMLS:C2936403|SCTID:8800006|UMLS:CN776919|Orphanet:2982 owl:Class GO:0051984 biolink:NamedThing positive regulation of chromosome segregation Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpak2llvmy_mondo_relaxed.owl up regulation of chromosome segregation|stimulation of chromosome segregation|up-regulation of chromosome segregation|activation of chromosome segregation|upregulation of chromosome segregation owl:Class GO:0051983 biolink:NamedThing regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012686 biolink:NamedThing major affective disorder 6 tmpak2llvmy_mondo_relaxed.owl MAJOR affective disorder 6|bipolar affective disorder|major affective disorder 6|MAFD6 MESH:C567075|OMIM:611536 owl:Class MONDO:0000380 biolink:NamedThing paranasal sinus carcinoma A malignant epithelial neoplasm arising in the paranasal sinus. tmpak2llvmy_mondo_relaxed.owl carcinoma of accessory sinus|carcinoma of paranasal sinus|paranasal sinus adenocarcinoma|adenoid cystic carcinoma of paranasal sinus|paranasal sinus carcinoma|paranasal sinus cancer|paranasal sinus adenoid cystic carcinoma|carcinoma of the accessory sinus|accessory sinus cancer|malignant paranasal sinus neoplasm|mucoepidermoid carcinoma of accessory sinus|cancer of paranasal sinus|paranasal sinus mucoepidermoid carcinoma|paranasal sinus squamous cell carcinoma|carcinoma of the paranasal sinus|malignant neoplasm of paranasal sinus|adenoid cystic carcinoma of accessory sinus|epidermoid carcinoma of the paranasal sinus|accessory sinus carcinoma|squamous cell carcinoma of paranasal sinus DOID:0050619|UMLS:C0854995|NCIT:C6014 owl:Class MONDO:0020669 biolink:NamedThing paranasal sinus cancer A primary or metastatic malignant neoplasm involving the paranasal sinuses. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the paranasal sinus|malignant paranasal sinus neoplasm|malignant tumor of the accessory sinus|malignant accessory sinus tumor|malignant tumor of paranasal sinus|malignant neoplasm of accessory sinus|malignant paranasal sinus tumor|malignant tumor of accessory sinus|malignant neoplasm of paranasal sinus|malignant neoplasm of the paranasal sinus|malignant accessory sinus neoplasm|malignant neoplasm of the accessory sinus NCIT:C7487 owl:Class MONDO:0034976 biolink:NamedThing iatrogenic Creutzfeldt-Jakob disease tmpak2llvmy_mondo_relaxed.owl Orphanet:576379 owl:Class MONDO:0043544 biolink:NamedThing nosocomial infection An infection acquired in a hospital or other healthcare setting. tmpak2llvmy_mondo_relaxed.owl health care associated infections|infection, nosocomial|nosocomial infectious disease|nosocomial infection|Cross infections|hospital infections|infection, Cross|hospital-acquired infection|associated infection, Healthcare|infection, Healthcare associated|infections, nosocomial|hospital-onset infection|infections, Cross|infections, Healthcare associated|Healthcare associated infections|Healthcare associated infection|health care associated infection|infections, hospital|Healthcare-associated infection|HAI|associated infections, Healthcare|nosocomial infections|infection, hospital|hospital infection UMLS:C0205721|MESH:D003428|NCIT:C115164|SCTID:19168005|EFO:1001299 owl:Class GO:0051967 biolink:NamedThing negative regulation of synaptic transmission, glutamatergic Any process that stops, prevents, or reduces the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpak2llvmy_mondo_relaxed.owl inhibition of synaptic transmission, glutamatergic|down regulation of synaptic transmission, glutamatergic|down-regulation of synaptic transmission, glutamatergic|downregulation of synaptic transmission, glutamatergic owl:Class GO:0051966 biolink:NamedThing regulation of synaptic transmission, glutamatergic Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019237 biolink:NamedThing inborn disorder of pyridoxine metabolism An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of pyridoxine metabolism|inborn pyridoxine metabolic process disorder|rare inborn error of pyridoxine metabolic process|inborn error of pyridoxine metabolic process UMLS:CN227600|Orphanet:79192|ICD10:G40.8 owl:Class CHEBI:76738 biolink:NamedThing EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*). tmpak2llvmy_mondo_relaxed.owl EC 1.11.* inhibitors|EC 1.11.* inhibitor|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor owl:Class CHEBI:76725 biolink:NamedThing EC 1.* (oxidoreductase) inhibitor An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). tmpak2llvmy_mondo_relaxed.owl oxidoreductase inhibitors|oxidoreductase inhibitor|oxidoreductase (EC 1.*) inhibitors|EC 1.* inhibitors|EC 1.* inhibitor|EC 1.* (oxidoreductase) inhibitors|oxidoreductase (EC 1.*) inhibitor owl:Class HP:0001098 biolink:NamedThing Abnormal fundus morphology Any structural abnormality of the fundus of the eye. tmpak2llvmy_mondo_relaxed.owl Abnormality of the fundus UMLS:C4025804 human_phenotype owl:Class HP:0004329 biolink:NamedThing Abnormal posterior eye segment morphology tmpak2llvmy_mondo_relaxed.owl Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eyeball|Abnormality of the posterior segment of the globe|Abnormality of the posterior segment of the eye UMLS:C4025354 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. peter 2008-02-27T04:25:00Z human_phenotype owl:Class MONDO:0014718 biolink:NamedThing developmental and epileptic encephalopathy, 34 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 34|DEE34|early infantile epileptic encephalopathy caused by mutation in SLC12A5|epileptic encephalopathy, early infantile, 34; EIEE34|SLC12A5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 34|EIEE34 UMLS:C4225257|DOID:0080460|OMIM:616645 owl:Class UBERON:0003408 biolink:NamedThing gland of digestive tract A gland that is part of a digestive tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gut gland|lower gastrointestinal tract gland|gland of digestive tract|digestive tract gland|gland of lower gastrointestinal tract owl:Class UBERON:0013765 biolink:NamedThing digestive system element Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. tmpak2llvmy_mondo_relaxed.owl digestive organ|digestive system organ owl:Class MONDO:0004723 biolink:NamedThing liver leiomyoma A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl hepatic leiomyoma|leiomyoma of the liver|leiomyoma of liver|liver leiomyoma NCIT:C5753|DOID:917|UMLS:C1333968 owl:Class MONDO:0004721 biolink:NamedThing liver neoplasm A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma. tmpak2llvmy_mondo_relaxed.owl liver tumor|neoplasm of liver|liver and intrahepatic bile duct epithelial neoplasm|epithelial hepatic and intrahepatic bile duct neoplasm|liver neoplasm (disease)|tumor of liver UMLS:C0023903|NCIT:C7106|DOID:916|ONCOTREE:LIVER|EFO:1001513|SCTID:126851005 Editor note: consider merging with liver and intrahepatic bile duct neoplasm owl:Class UBERON:0016566 biolink:NamedThing pit An roughly circular indentation in a surface. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036215 biolink:NamedThing anatomical surface region Material anatomical entity that forms the outermost boundary of an anatomical structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005907 biolink:NamedThing persian gulf syndrome Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) tmpak2llvmy_mondo_relaxed.owl Gulf war syndrome MESH:D018923|UMLS:C0282550|SCTID:95877004|ICD9:300.89|DOID:4491|EFO:0007430 owl:Class MONDO:0000200 biolink:NamedThing Zimmermann-Laband syndrome Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. tmpak2llvmy_mondo_relaxed.owl ZLS|Laband-Zimmermann syndrome|Zimmermann-Laband syndrome 1|ZLS1|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|Zimmermann-Laband syndrome type 1|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Laband syndrome|Zimmerman Laband syndrome UMLS:C0796013|GARD:0000385|MESH:C536725|Orphanet:3473|SCTID:699447001|ICD9:759.89|OMIMPS:135500|ICD10:Q87.8 owl:Class MONDO:0100348 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems. tmpak2llvmy_mondo_relaxed.owl NEDMILG OMIM:619091 owl:Class MONDO:0011438 biolink:NamedThing acne An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. tmpak2llvmy_mondo_relaxed.owl frontalis acne|acne varioliformis|acne, ADULT|acne vulgaris|acne (disease)|acne acne (disease) EFO:0003894|MTH:217|NCIT:C27195|ICD10:L70.9|ICD10:L70|ICD10:L70.2|HP:0001061|DOID:6543|OMIM:604324|ICD9:706.0 owl:Class MONDO:0002406 biolink:NamedThing dermatitis An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. tmpak2llvmy_mondo_relaxed.owl inflammation of zone of skin|inflammation of skin|inflammation of the skin|inflammatory skin disease|skin inflammation|zone of skin inflammation EFO:1000636|NCIT:C2983|MESH:D003872|ICD10:L30.9|ICD9:692.9|DOID:2723|SCTID:43116000|UMLS:C0011603 owl:Class UBERON:0010585 biolink:NamedThing pedal digit phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot phalanx pre-cartilage condensation|pes phalanx pre-cartilage condensation|hindlimb phalanx pre-cartilage condensation|foot digit phalanx pre-cartilage condensation|hind limb digit phalanx pre-cartilage condensation owl:Class CL:0000057 biolink:NamedThing fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. tmpak2llvmy_mondo_relaxed.owl BTO:0000452|VHOG:0001482|FMA:63877|CALOHA:TS-0362 These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. cell owl:Class CL:0002320 biolink:NamedThing connective tissue cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-2096|FMA:63875 tmeehan 2010-09-15T03:01:54Z CL:1000406 cell owl:Class MONDO:0011601 biolink:NamedThing neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. tmpak2llvmy_mondo_relaxed.owl NICCD|neonatal-onset citrullinemia type 2|citrullinemia, type II, neonatal-onset|citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia|neonatal intrahepatic cholestasis due to citrin deficiency|cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|neonatal-onset citrullinemia type II OMIM:605814|UMLS:C1853942|Orphanet:247598|GARD:0010214|ICD10:E72.2|MESH:C536398|SCTID:717155003|UMLS:C4274030 owl:Class MONDO:0016602 biolink:NamedThing citrin deficiency Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). tmpak2llvmy_mondo_relaxed.owl citrin deficiency UMLS:C1997910|ICD10:E72.2|SCTID:429735007|Orphanet:247582 owl:Class MONDO:0004187 biolink:NamedThing nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl fasciitis - nodular|pseudosarcomatous fibromatosis|nodular fasciitis|pseudosarcomatous fasciitis UMLS:C0410005|Orphanet:477742|NCIT:C3827|DOID:7327|SCTID:400138001|ICD10:M72.4|ICD9:728.79 owl:Class MONDO:0006209 biolink:NamedThing fibroblastic neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. tmpak2llvmy_mondo_relaxed.owl fibroblastic neoplasm|fibrous tumor|fibrogenic neoplasm|fibrogenicTumor|fibrocytic neoplasm|fibrocytic tumor|fibroblastic tumor|fibrous neoplasm NCIT:C7075|EFO:1000255 owl:Class MONDO:0016038 biolink:NamedThing calcified aponeurotic fibroma A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells. tmpak2llvmy_mondo_relaxed.owl juvenile aponeurotic fibromatosis|calcifying aponeurotic fibroma|Juvenile aponeurotic fibroma|Juvenile aponeurotic fibrosis|Keasby tumor Orphanet:199260|ICD10:M72.8|UMLS:C0553647|SCTID:703614006|NCIT:C4818 owl:Class MONDO:0016037 biolink:NamedThing superficial Fibromatosis A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. tmpak2llvmy_mondo_relaxed.owl superficial Fibromatosis NCIT:C6814|ICD9:729.99|EFO:1000556|ICD10:M72.8|Orphanet:199257|SCTID:238853007|UMLS:C0406571 owl:Class MONDO:0010033 biolink:NamedThing generalized peeling skin syndrome Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. tmpak2llvmy_mondo_relaxed.owl peeling skin syndrome type 1|PSS1|generalized deciduous skin|peeling skin syndrome 1|generalized PSS GARD:0012862|ICD10:Q80.8|UMLS:CN202304|Orphanet:263543|UMLS:C4305156|SCTID:718749004 owl:Class MONDO:0019347 biolink:NamedThing peeling skin syndrome Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. tmpak2llvmy_mondo_relaxed.owl PSS|deciduous skin|peeling skin disease|familial continuous skin peeling syndrome|idiopathic deciduous skin|familial continuous skin peeling|keratosis exfoliativa congenita|skin peeling syndrome Orphanet:817|ICD9:757.39|OMIMPS:270300|SCTID:239065004|ICD10:Q80.8|DOID:0060283|GARD:0007347 owl:Class UBERON:0001435 biolink:NamedThing carpal bone A bone that is part of the carpal skeleton. Examples: scaphoid, lunate, capitate[cjm]. tmpak2llvmy_mondo_relaxed.owl bone of carpus|carpus bone|carpal skeleton bone|carpal owl:Class GO:0070564 biolink:NamedThing positive regulation of vitamin D receptor signaling pathway Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpak2llvmy_mondo_relaxed.owl activation of vitamin D receptor signaling pathway|up-regulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|stimulation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway|up regulation of vitamin D receptor signaling pathway|upregulation of vitamin D receptor signaling pathway owl:Class GO:0070562 biolink:NamedThing regulation of vitamin D receptor signaling pathway Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpak2llvmy_mondo_relaxed.owl regulation of VDR signaling pathway|regulation of vitamin D receptor signalling pathway owl:Class GO:0099080 biolink:NamedThing supramolecular complex A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0110165 biolink:NamedThing cellular anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002797 biolink:NamedThing childhood medulloblastoma A medulloblastoma occurring in children. tmpak2llvmy_mondo_relaxed.owl medulloblastoma|pediatric medulloblastoma|medulloblastoma, childhood|medulloblastoma of childhood|childhood medulloblastoma GARD:0009350|DOID:3869|UMLS:C0278510|NCIT:C3997 https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood owl:Class MONDO:0007959 biolink:NamedThing medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. tmpak2llvmy_mondo_relaxed.owl medulloblastoma, malignant|CPNET|cerebellum embryonal neoplasm|medulloblastomas|localized primitive neuroectodermal tumor|infratentorial primitive neuroectodermal tumor|medulloblastoma with extensive nodularity|medulloblastoma, Desmoplastic|medulloblastoma|CNS PNET|cerebellar medulloblastoma|MDB|brain medulloblastoma DOID:0050902|Orphanet:616|OMIM:155255|UMLS:C1334410|GARD:0007005|ICDO:9470/3|ONCOTREE:MBL|MESH:D008527|EFO:0002939|SCTID:443333004|NCIT:C3222|ICD10:C71.6|UMLS:C0025149|DOID:0060104|MedDRA:10027107 https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma owl:Class MONDO:0003960 biolink:NamedThing pulmonary large cell neuroendocrine carcinoma A large cell neuroendocrine carcinoma that involves the lung(s). tmpak2llvmy_mondo_relaxed.owl LCNEC of the lung|lung large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of lung|large cell lung carcinoma with neuroendocrine differentiation|large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the lung|pulmonary large cell neuroendocrine carcinoma UMLS:C1334363|DOID:6658|NCIT:C5672 owl:Class MONDO:0005454 biolink:NamedThing lung neuroendocrine neoplasm A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. tmpak2llvmy_mondo_relaxed.owl pulmonary neuroendocrine tumor|lung neuroendocrine neoplasm|pulmonary neuroendocrine neoplasm|lung neuroendocrine tumor|neuroendocrine neoplasm of lung|lung NET|lung neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the lung SCTID:707594002|DOID:5410|UMLS:C1334452|EFO:0005220|NCIT:C5670|ICD9:209.61|ONCOTREE:LNET owl:Class MONDO:0012117 biolink:NamedThing ALG9-CDG A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). tmpak2llvmy_mondo_relaxed.owl ALG9-CDG (CDG-IL)|CDG 1L|congenital disorder of glycosylation, type IL|CDG IL|carbohydrate deficient glycoprotein syndrome type IL|congenital disorder of glycosylation type 1L|CDG-IL|CDG1L|congenital disorder of glycosylation type IL|CDG syndrome type IL|mannosyltransferase 7-9 deficiency|carbohydrate deficient glycoprotein syndrome type 1L GARD:0009839|Orphanet:79328|SCTID:720978005|OMIM:608776|ICD10:E77.8|DOID:0080564|MESH:C535750|UMLS:C2931006 owl:Class UBERON:0004792 biolink:NamedThing secretion of endocrine pancreas A secretion that is part of a endocrine pancreas [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pars endocrina pancreatis secretion|endocrine pancreas secretion|pancreatic endocrine secretion|secretion of pars endocrina pancreatis owl:Class UBERON:0004795 biolink:NamedThing pancreas secretion A secretion that is part of a pancreas [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl secretion of pancreas|pancreatic secretion owl:Class MONDO:0017532 biolink:NamedThing postaxial polydactyly type A, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q69.0|UMLS:CN203263|Orphanet:295165 owl:Class MONDO:0019673 biolink:NamedThing postaxial polydactyly type A tmpak2llvmy_mondo_relaxed.owl postaxial polydactyly type A|PAPA|postaxial polydactyly type A (disease) postaxial polydactyly type A (disease) ICD10:Q69.0|Orphanet:93334|UMLS:C3887487|HP:0005696|SCTID:715704001 owl:Class MONDO:0017306 biolink:NamedThing disorder of phenylalanine metabolism tmpak2llvmy_mondo_relaxed.owl ICD9:270.8|Orphanet:284814|SCTID:12957008|UMLS:C0268461|ICD10:E70.1|ICD10:E70.0 owl:Class MONDO:0019235 biolink:NamedThing inborn disorder of phenylalanin or tyrosine metabolism tmpak2llvmy_mondo_relaxed.owl disorder of phenylalanin or tyrosine metabolism Orphanet:79190|UMLS:CN227599 owl:Class UBERON:0006234 biolink:NamedThing femur pre-cartilage condensation A femur endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl femoral pre-cartilage condensation owl:Class UBERON:0010886 biolink:NamedThing hindlimb pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a hindlimb bone. tmpak2llvmy_mondo_relaxed.owl hindlimb pre-cartilage condensation owl:Class MONDO:0013272 biolink:NamedThing chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl 14q11.2 microdeletion syndrome|chromosome 14q11-q22 deletion syndrome|Del(14)(q11.2)|monosomy 14q11.2 ICD10:Q93.5|Orphanet:261120|OMIM:613457|DOID:0060392|UMLS:C4304999|UMLS:C3150707|SCTID:719047001 owl:Class MONDO:0016912 biolink:NamedThing partial deletion of the long arm of chromosome 14 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 14q|deletion 14q|chromosome 14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|partial deletion of the long arm of chromosome type 14|14q monosomy|monosomy 14q|partial monosomy 14q|14q deletion Orphanet:262110|GARD:0003722|ICD10:Q93.5 owl:Class UBERON:0005176 biolink:NamedThing tooth enamel organ A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. tmpak2llvmy_mondo_relaxed.owl organum enameleum|odontogenic organ|dental organ|enamel organ owl:Class GO:0034762 biolink:NamedThing regulation of transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl regulation of membrane transport owl:Class MONDO:0021114 biolink:NamedThing Bartholin gland neoplasm A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl major vestibular gland neoplasm|Bartholin's gland neoplasm|Bartholin's gland tumor|major vestibular gland tumor|Bartholin gland neoplasm|neoplasm of the Bartholin's gland|major vestibular gland neoplasm (disease)|tumor of the Bartholin's gland|tumor of major vestibular gland|neoplasm of major vestibular gland|tumor of Bartholin's gland|neoplasm of Bartholin's gland NCIT:C6434 owl:Class MONDO:0021049 biolink:NamedThing vulvar neoplasm A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. tmpak2llvmy_mondo_relaxed.owl mammalian vulva neoplasm|vulval neoplasm|tumor of the vulva|neoplasm of mammalian vulva|tumor of vulva|mammalian vulva tumor|tumor of mammalian vulva|vulva neoplasm|vulva tumor|neoplasm of vulva|vulvar tumor|vulvar neoplasm|mammalian vulva neoplasm (disease)|neoplasm of the vulva ICD9:239.5|NCIT:C3443|SCTID:126922007 owl:Class NCBITaxon:72294 biolink:NamedThing Campylobacteraceae tmpak2llvmy_mondo_relaxed.owl Campylobacter group GC_ID:11|PMID:29034857 ncbi_taxonomy owl:Class NCBITaxon:213849 biolink:NamedThing Campylobacterales tmpak2llvmy_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class GO:0046578 biolink:NamedThing regulation of Ras protein signal transduction Any process that modulates the frequency, rate or extent of Ras protein signal transduction. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006938 biolink:NamedThing pinna surface epithelium An epithelium that is part of a pinna. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004289 biolink:NamedThing glottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. tmpak2llvmy_mondo_relaxed.owl verrucous carcinoma of the glottis|glottis verrucous carcinoma|glottic verrucous carcinoma|verrucous carcinoma of glottis DOID:7583|NCIT:C8189|UMLS:C0280329 owl:Class MONDO:0002766 biolink:NamedThing larynx verrucous carcinoma A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. tmpak2llvmy_mondo_relaxed.owl larynx verrucous carcinoma|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer|verrucous carcinoma of larynx|verrucous carcinoma of the larynx NCIT:C8188|UMLS:C0280328|DOID:3752|SCTID:707427000 owl:Class MONDO:0004631 biolink:NamedThing tongue cancer A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. tmpak2llvmy_mondo_relaxed.owl tongue neoplasm malignant|cancer of tongue|tongue carcinoma|tongue neoplasm, malignant|malignant neoplasm of anterior two-thirds of tongue|malignant neoplasm of tongue|malignant neoplasm of dorsal tongue|malignant neoplasm of base of tongue|malignant tongue neoplasm|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant neoplasm of dorsum of tongue|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of tip and lateral border of tongue|malignant tumor of posterior tongue|malignant neoplasm of border of tongue|malignant neoplasm of tongue, tip and lateral border|malignant tumor of anterior two-thirds of tongue|malignant tumor of base of tongue|malignant tumor of tongue|malignant neoplasm of dorsal surface of tongue|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of mobile part of tongue|malignant neoplasm of the tongue|malignant tumor of the tongue|malignant tumor of lingual tonsil|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of tongue NOS|malignant neoplasm of junctional zone of tongue|tongue cancer|malignant neoplasm of tongue, NOS|malignant tongue tumor|malignant neoplasm of mobile part of tongue NOS|malignant neoplasm of lingual tonsil|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral tongue surface|malignant neoplasm of other sites of tongue|malignant neoplasm of ventral surface of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of dorsal tongue NOS|malignant tumor of mobile part of tongue|malignant tumor of lingual tonsil (disorder) ICD10:C02.9|NCIT:C9345|ICD9:141.6|DOID:8649|ICD9:141|SCTID:363360003|GARD:0007779|ICD9:141.3|ICD9:141.1|ICD9:141.4|ICD10:C01|ICD10:C02.4|ICD9:141.9|ICD10:C02.1|ICD10:C02.2|ICD9:141.2|ICD9:141.5|ICD9:141.0|MESH:D014062|ICD10:C02.0 https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer owl:Class MONDO:0012951 biolink:NamedThing colorectal cancer, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 14Q|CRCS8|colorectal cancer, susceptibility to, 8 OMIM:612589 owl:Class MONDO:0005575 biolink:NamedThing colorectal cancer A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl colorectal cancer|malignant neoplasm of the large intestine|cancer of the large bowel|CRC|malignant neoplasm of colorectum|cancer of large intestine|malignant colorectal tumor|large intestine cancer|malignant colorectal neoplasm|colon cancer|cancer of colorectum|malignant tumor of large bowel|malignant neoplasm of the large bowel|colorectum cancer|malignant large intestine neoplasm|malignant large intestine tumor|malignant colorectum neoplasm|malignant tumor of the large intestine|malignant tumor of large intestine|malignant large bowel tumor|malignant large bowel neoplasm|malignant neoplasm of large intestine|malignant neoplasm of large bowel|cancer of large bowel|malignant tumor of the large bowel SCTID:363510005|OMIM:114500|EFO:0005842|DOID:5672|UMLS:C1527249|ICD10:C18.9|NCIT:C4978|KEGG:05210|DOID:9256 Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent MONDO:0021307|MONDO:0003576 owl:Class MONDO:0016002 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, type Via, formerly|Ehlers-Danlos syndrome type 6 (formerly)|Ehlers-Danlos syndrome, type VIA, formerly|EDS6|Ehlers-Danlos syndrome type 6A|Ehlers-Danlos syndrome, kyphoscoliosis type|Ehlers-Danlos syndrome, oculoscoliotic type|EDSKSCL1|EDS 6|EDS VI|Ehlers-Danlos syndrome oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|EDS, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type 1|EDS6A, formerly|kyphoscoliotic EDS|Ehlers-Danlos syndrome kyphoscoliotic type|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome, ocular-scoliotic type|kEDS|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, type VIA|Ehlers-Danlos syndrome, type 6|Ehlers-Danlos syndrome, type VI|Ehlers-Danlos syndrome type 6A (formerly)|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|Ehlers-Danlos syndrome, type Via|nevo syndrome|kyphoscoliotic Ehlers-Danlos syndrome|EDS 6 (formerly)|Ehlers-Danlos syndrome, kyphoscoliotic type|EDS VIA NCIT:C125700|OMIM:225400|MESH:C536198|SCTID:718211004|UMLS:CN202461|UMLS:C0268342|Orphanet:1900|ICD10:Q79.6|GARD:0002083 owl:Class MONDO:0010825 biolink:NamedThing atrioventricular defect-blepharophimosis-radial and anal defect syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. tmpak2llvmy_mondo_relaxed.owl Houlston-Ironton-Temple syndrome|atrioventricular septal defect with blepharophimosis and anal and radial defects OMIM:600123|UMLS:C1838606|MESH:C563994|Orphanet:1352|ICD10:Q87.8 owl:Class MONDO:0012596 biolink:NamedThing PSAT deficiency Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. tmpak2llvmy_mondo_relaxed.owl PSAT deficiency|phosphoserine aminotransferase deficiency|PSATD SCTID:718603002|Orphanet:284417|UMLS:C1970253|DOID:0050723|ICD10:E72.8|OMIM:610992|GARD:0013273|MESH:C567032 owl:Class MONDO:0018162 biolink:NamedThing neurometabolic disorder due to serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. tmpak2llvmy_mondo_relaxed.owl neurometabolic disorder due to serine deficiency|serine deficiency 2022-03-01 ICD10:E72.8|Orphanet:35705|UMLS:CN227274 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class GO:0071825 biolink:NamedThing protein-lipid complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. tmpak2llvmy_mondo_relaxed.owl protein-lipid complex subunit organisation owl:Class GO:0043933 biolink:NamedThing protein-containing complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. tmpak2llvmy_mondo_relaxed.owl macromolecular complex subunit organization|cellular macromolecular complex subunit organization|protein complex subunit organisation|macromolecular complex organization|macromolecular complex subunit organisation|protein complex subunit organization|cellular macromolecular complex organization|cellular macromolecular complex subunit organisation owl:Class MONDO:0009171 biolink:NamedThing endothelial dystrophy, congenital hereditary, with nail hypoplasia tmpak2llvmy_mondo_relaxed.owl endothelial dystrophy, congenital hereditary, with nail hypoplasia MESH:C565591|UMLS:C1856970|OMIM:226110 owl:Class MONDO:0013116 biolink:NamedThing congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl mitochondrial Complex deficiency, combined|myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome|myopathy with cataract and combined respiratory-chain deficiency|congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome OMIM:613076|GARD:0010522|ICD10:G71.3|Orphanet:330054|UMLS:C2751320|MESH:C567769 owl:Class MONDO:0000941 biolink:NamedThing eyelid degenerative disease A neurodegenerative disease that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl neurodegenerative disease of eyelid|eyelid neurodegenerative disease SCTID:1112003|DOID:10120|ICD9:374.50|UMLS:C0155209 owl:Class MONDO:0005559 biolink:NamedThing neurodegenerative disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. tmpak2llvmy_mondo_relaxed.owl degenerative disease|neurodegenerative disease|degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|central nervous system degenerative disorder|brain degeneration|cerebral degeneration disease MESH:D019636|NCIT:C4802|DOID:1289|ICD10:G31.9|SCTID:80690008|ICD9:349.89|EFO:0005772 Editor notes: DO treats this as two diseases owl:Class MONDO:0006216 biolink:NamedThing gallbladder adenoma A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. tmpak2llvmy_mondo_relaxed.owl adenoma of gallbladder|adenoma of the gallbladder|gallbladder adenoma|gall bladder adenoma NCIT:C7720|EFO:1000263|UMLS:C0238137|DOID:0050893 owl:Class MONDO:0010604 biolink:NamedThing hemophilia B Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. tmpak2llvmy_mondo_relaxed.owl hemophilia B(M)|Christmas disease|factor 9 deficiency|hereditary Factor IX deficiency|plasma thromboplastin component deficiency|hemophilia B|hemophilia B Leyden|HEMB|hem B|deficiency, functional factor IX|hereditary Factor IX deficiency disease|F9 deficiency|congenital factor IX disorder|hemophilia type B|factor IX deficiency|congenital factor IX deficiency UMLS:C0008533|SCTID:41788008|OMIM:306900|DOID:12259|ICD9:286.1|EFO:0009154|GARD:0008732|ICD10:D67|MedDRA:10016077|MESH:D002836|NCIT:C26721|Orphanet:98879 https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b owl:Class MONDO:0022623 biolink:NamedThing CDK4 linked melanoma tmpak2llvmy_mondo_relaxed.owl GARD:0001175 https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma owl:Class MONDO:0005105 biolink:NamedThing melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpak2llvmy_mondo_relaxed.owl Naevocarcinoma|malignant melanoma|melanoma, malignant|melanoma|melanoma (disease) melanoma (disease) ONCOTREE:MEL|UMLS:C0025202|KEGG:05218|DOID:1909|MESH:D008545|EFO:0000756|HP:0002861|ICDO:8720/3|SCTID:372244006|UMLS:CN971653|NCIT:C3224 owl:Class HGNC:6535 biolink:NamedThing LDHA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016293 biolink:NamedThing congenital stationary night blindness tmpak2llvmy_mondo_relaxed.owl night blindness, congenital stationary|congenital essential nyctalopia MESH:C536122|ICD10:H53.63|ICD10:H53.6|OMIMPS:310500|ICD9:368.61|SCTID:232061009|DOID:0050534|Orphanet:215 owl:Class MONDO:0004587 biolink:NamedThing hereditary night blindness An instance of night blindness that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl congenital night blindness|Oguchi's disease|hereditary night blindness ICD10:H53.63|DOID:8498|SCTID:193687000|ICD9:368.61 owl:Class MONDO:0021125 biolink:NamedThing disease characteristic An attribute of a disease. tmpak2llvmy_mondo_relaxed.owl qualifier|disease qualifier|modifier NCIT:C41009 owl:Class PATO:0000001 biolink:NamedThing quality A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities tmpak2llvmy_mondo_relaxed.owl quality (PATO) owl:Class MONDO:0016881 biolink:NamedThing partial deletion of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 19|partial monosomy of chromosome 19 Orphanet:261841|ICD10:Q93.5 owl:Class GO:0050768 biolink:NamedThing negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpak2llvmy_mondo_relaxed.owl downregulation of neurogenesis|down-regulation of neurogenesis|inhibition of neurogenesis|down regulation of neurogenesis owl:Class GO:0010721 biolink:NamedThing negative regulation of cell development Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005835 biolink:NamedThing Lynch syndrome An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. tmpak2llvmy_mondo_relaxed.owl hereditary nonpolyposis colorectal cancer|hereditary non-polyposis colon cancer type 1|Hereditary colorectal endometrial cancer syndrome|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Lynch syndrome|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary defective mismatch repair syndrome|HNPCC - hereditary nonpolyposis colon cancer|hereditary nonpolyposis colorectal neoplasm|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) MedDRA:10051981|Orphanet:144|ICD10:D48.9|NCIT:C8494|DOID:3883|SCTID:716318002|EFO:0007354 Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. https://github.com/monarch-initiative/mondo/issues/1673|https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc|https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria owl:Class MONDO:0020526 biolink:NamedThing acute megakaryoblastic leukemia in down syndrome tmpak2llvmy_mondo_relaxed.owl DS-AMKL UMLS:CN207426|Orphanet:99887|ICD10:C94.2 owl:Class MONDO:0018872 biolink:NamedThing acute megakaryoblastic leukemia Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. tmpak2llvmy_mondo_relaxed.owl megakaryocytic leukemia|acute megakaryoblastic leukemia|leukemia, megakaryocytic, malignant|thrombocytic leukaemia|acute megakaryocytic leukemia|acute megakaryoblastic leukemia, FAB M7|acute megakaryoblastic leukaemia, FAB M7|acute M7 myeloid leukemia|acute megakaryoblastic leukaemia|acute myeloblastic leukemia type 7|acute megakaryocytic leukemias|AML M7|megakaryocytic myelosis|FAB M7|acute megakaryoblastic leukemia (FAB type M7)|acute myeloid leukemia M7|AMKL ONCOTREE:AMKL|GARD:0000524|MedDRA:C0023462|MESH:D007947|Orphanet:518|SCTID:277602003|ICDO:9910/3|DOID:8761|NCIT:C3170|UMLS:C0023462|EFO:0003025|Wikipedia:Acute_megakaryoblastic_leukemia|ICD9:207.2|ICD10:C94.2|ICD10:C94.20 https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia owl:Class GO:0034764 biolink:NamedThing positive regulation of transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl up-regulation of transmembrane transport|positive regulation of membrane transport|upregulation of transmembrane transport|up regulation of transmembrane transport|activation of transmembrane transport|stimulation of transmembrane transport owl:Class GO:0045639 biolink:NamedThing positive regulation of myeloid cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of myeloid cell differentiation|activation of myeloid cell differentiation|stimulation of myeloid cell differentiation|upregulation of myeloid cell differentiation|up-regulation of myeloid cell differentiation owl:Class MONDO:0009875 biolink:NamedThing achromatopsia 3 Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene. tmpak2llvmy_mondo_relaxed.owl CNGB3 achromatopsia|Rod monochromatism 1 (formerly)|rod monochromatism 1|RMCH1|Rod monochromacy 1 (formerly)|achromatopsia type 3|achromatopsia caused by mutation in CNGB3|total colorblindness with myopia|RMCH1 (formerly)|rod monochromacy 1|rod monochromacy 1, formerly|rod monochromatism 1, formerly|ACHM1, formerly|achromatopsia 3|ACHM3|ACHM1|ACHM1 (formerly)|achromatopsia with myopia GARD:0009650|UMLS:C1849792|OMIM:262300|DOID:0110008 owl:Class MONDO:0018544 biolink:NamedThing adrenoleukodystrophy A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. tmpak2llvmy_mondo_relaxed.owl ABCD1 deficiency|adrenoleukodystrophy|adrenomyeloneuropathy, adult|sudanophilic cerebral sclerosis|X-linked adrenoleukodystrophy|adrenoleukodystrophy, X-linked|encephalitis periaxialis concentrica|diffuse sclerosis|encephalitis periaxialis, Schilder's|Siemerling-Creutzfeldt disease|X-linked ALD|X-ALD|Bronze-Schilder disease|ALD|diffuse cerebral sclerosis of Schilder NCIT:C61252|OMIM:300100|ICD10:E71.3|MedDRA:10051260|DOID:10588|ICD10:G37.0|ICD9:341.1|MESH:D000326|GARD:0005758|ICD10:E71.529|Orphanet:43|ICD10:E71.52 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100265 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0015905 biolink:NamedThing syndromic dyslipidemia A inherited lipid metabolism disorder that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with inherited lipid metabolism disorder|complex dyslipidemia|rare syndromic dyslipidemia|syndromic inherited lipid metabolism disorder Orphanet:181437|UMLS:C3875286|SCTID:109041000119107 owl:Class MONDO:0019929 biolink:NamedThing 49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. tmpak2llvmy_mondo_relaxed.owl XXXXY syndrome|49,XXXXY ICD9:758.81|UMLS:C0265499|Orphanet:96264|SCTID:38847009|ICD10:Q98.1|GARD:0005679 https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome owl:Class MONDO:0017143 biolink:NamedThing genetic infertility Genetic infertility. tmpak2llvmy_mondo_relaxed.owl genetic infertility|hereditary infertility disorder Orphanet:275742 owl:Class CL:0000508 biolink:NamedThing type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. tmpak2llvmy_mondo_relaxed.owl G cell BTO:0004108|FMA:67609 cell owl:Class CL:0002180 biolink:NamedThing mucous cell of stomach A mucous cell in the epithelium of the stomach. tmpak2llvmy_mondo_relaxed.owl FMA:63464 tmeehan 2010-08-25T03:38:51Z CL:1000404 cell owl:Class OBO:CHR_9606-chr11p1 biolink:NamedThing chr11p1 (Human) tmpak2llvmy_mondo_relaxed.owl 53400000 0 hg38 owl:Class UBERON:0007914 biolink:NamedThing bone of craniocervical region A bone that is part of a craniocervical region. tmpak2llvmy_mondo_relaxed.owl head or neck bone|cranial bone owl:Class UBERON:0001474 biolink:NamedThing bone element Skeletal element that is composed of bone tissue. tmpak2llvmy_mondo_relaxed.owl bone organ|bone|bones owl:Class CL:0000820 biolink:NamedThing B-1a B cell A B-1 B cell that has the phenotype CD5-positive. tmpak2llvmy_mondo_relaxed.owl B1a B-lymphocyte|B1a B-cell|B1a B lymphocyte|B1a B cell|CD5-positive B1 cell|B1a cell|B-1a B lymphocyte|B-1a B-cell|B-1a B-lymphocyte|CD5(+) B1 cell|CD5+ B1 cell cell owl:Class CL:0000819 biolink:NamedThing B-1 B cell A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive. tmpak2llvmy_mondo_relaxed.owl B-1 B lymphocyte|B1 cell|B-1 cell|B1 B cell|B1 B-lymphocyte|B1 B-cell|B-1 B-lymphocyte|B-1 B-cell|B1 B lymphocyte There are small numbers of B-1 cells found in the lymph nodes and spleen, while larger numbers can be found in the peritoneal and pleural cavities. B-1 B cells are reportedly CD11b-positive, CD20-positive, CD21-positive, CD27-positive, CD44-positive, CD45RB-positive, CD48-positive, CD70-negative, CD150-positive, CD244-negative, CD352-positive, sIgM-positive, and sIgD-low. cell owl:Class GO:0001841 biolink:NamedThing neural tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpak2llvmy_mondo_relaxed.owl neural tube morphogenesis|neurulation owl:Class GO:0001838 biolink:NamedThing embryonic epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005013 biolink:NamedThing mucosa of male urethra A mucosa that is part of a male urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of male urethra|male urethra mucosa|male urethra organ mucosa|mucous membrane of male urethra|male urethra mucosa of organ|male urethra mucous membrane|mucosa of organ of male urethra owl:Class UBERON:0005428 biolink:NamedThing vagal neural crest Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. tmpak2llvmy_mondo_relaxed.owl post-otic neural crest|enteric neural crest|VNC owl:Class MONDO:0005159 biolink:NamedThing prostate carcinoma A carcinoma that arises from epithelial cells of the prostate gland. tmpak2llvmy_mondo_relaxed.owl cancer of prostate|carcinoma of prostate|prostate carcinoma|carcinoma of the prostate|cancer of the prostate|carcinoma of prostate gland|prostate gland carcinoma|prostate cancer, NOS|prostate cancer EFO:0001663|UMLS:C0600139|DOID:10286|NCIT:C4863|KEGG:05215 owl:Class MONDO:0008315 biolink:NamedThing prostate cancer A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. tmpak2llvmy_mondo_relaxed.owl prostatic cancer|malignant prostate neoplasm|NGP - new growth of prostate|malignant prostate gland neoplasm|malignant prostate tumor|prostate cancer, familial|prostate cancer|malignant neoplasm of the prostate|malignant tumor of the prostate|malignant neoplasm of prostate gland|malignant tumor of prostate|tumor of the prostate|prostate gland cancer|cancer of prostate gland|hereditary prostate cancer|malignant neoplasm of prostate|prostatic neoplasm|prostate neoplasm ICD9:185|UMLS:C0376358|DOID:10283|NCIT:C7378|ICD10:C61|SCTID:399068003|MESH:D011471 owl:Class MONDO:0006056 biolink:NamedThing squamous cell breast carcinoma A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. tmpak2llvmy_mondo_relaxed.owl squamous cell breast carcinoma|squamous carcinoma of breast|squamous breast carcinoma|squamous cell carcinoma of breast|squamous carcinoma of the breast|breast primary squamous cell carcinoma|scc of breast|scc of the breast|breast squamous cell carcinoma|primary squamous cell carcinoma of breast|primary squamous cell breast carcinoma|metaplastic squamous cell carcinoma|squamous cell carcinoma of the breast|primary squamous cell carcinoma of the breast EFO:1000053|NCIT:C5177|UMLS:C1336079|DOID:5514|ONCOTREE:MSCC owl:Class MONDO:0004344 biolink:NamedThing childhood malignant hemangiopericytoma A malignant hemangiopericytoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl malignant pediatric hemangiopericytoma|malignant hemangiopericytoma|malignant childhood hemangiopericytoma UMLS:C0279983|DOID:7731|NCIT:C8090 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0009330 biolink:NamedThing hemangiopericytoma, malignant An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. tmpak2llvmy_mondo_relaxed.owl hemangiopericytoma, malignant|malignant hemangiopericytoma MESH:C562740|ICDO:9150/3|OMIM:234820|NCIT:C4301|UMLS:C0334542|GARD:0002627 owl:Class CL:0000175 biolink:NamedThing luteal cell A progesterone secreting cell in the corpus luteum. The large luteal cells develop from the granulosa cells. The small luteal cells develop from the theca cells. tmpak2llvmy_mondo_relaxed.owl lutein cell BTO:0003939|FMA:18688 cell owl:Class CL:0002132 biolink:NamedThing stromal cell of ovary A stomal cell of the ovary tmpak2llvmy_mondo_relaxed.owl ovarian stromal cell FMA:72299 tmeehan 2010-08-23T12:10:31Z cell owl:Class UBERON:0011975 biolink:NamedThing epiphysis of middle phalanx of pes An epiphysis that is part of a middle phalanx of pes. tmpak2llvmy_mondo_relaxed.owl epiphysis of middle phalanx of toe owl:Class UBERON:0001437 biolink:NamedThing epiphysis The head of a long bone that articulates with a neighboring skeletal element and is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united[MESH,modified]. tmpak2llvmy_mondo_relaxed.owl end of long bone|epiphyses|long bone epiphysis|bone epiphysis owl:Class NCBITaxon:11019 biolink:NamedThing Alphavirus tmpak2llvmy_mondo_relaxed.owl Alphaviridae|arboviruses group A GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11018 biolink:NamedThing Togaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008695 biolink:NamedThing chorea-acanthocytosis Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. tmpak2llvmy_mondo_relaxed.owl Chac|Levine-Critchley syndrome|chorea acanthocytosis|chorea-acanthocytosis|choreaacanthocytosis|choreoacanthocytosis|neuroacanthocytosis|acanthocytosis with neurologic disorder|CHOREOACANTHOCYTOSIS|choreo-acanthocytosis SCTID:66881004|DOID:0050766|GARD:0003956|OMIM:200150|Orphanet:2388|ICD9:333.0|ICD10:E78.6 owl:Class MONDO:0020142 biolink:NamedThing metabolic disease with dementia tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98543|UMLS:CN207023 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0014625 biolink:NamedThing developmental and epileptic encephalopathy, 33 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene. tmpak2llvmy_mondo_relaxed.owl EIEE33|epileptic encephalopathy, early infantile, type 33|EEF1A2 early infantile epileptic encephalopathy|DEE33|epileptic encephalopathy, early infantile, 33|early infantile epileptic encephalopathy caused by mutation in EEF1A2 OMIM:616409|DOID:0080463|UMLS:C4225337 owl:Class MONDO:0018614 biolink:NamedThing undetermined early-onset epileptic encephalopathy A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. tmpak2llvmy_mondo_relaxed.owl undetermined EOEE|undetermined early-onset epileptic encephalopathy ICD10:G40.4|Orphanet:442835 owl:Class MONDO:0002328 biolink:NamedThing intracranial hemangioma A hemangioma arising from the brain and meninges. tmpak2llvmy_mondo_relaxed.owl intracranial structure hemangioma|hemangioma of intracranial structure|angioma of the intracranial structure|intracranial hemangioma|brain hemangioma|angioma of intracranial structure|intracranial angioma|hemangioma of the intracranial structure|hemangioma of intracranial structures|hemangioma of brain DOID:2517|NCIT:C3633|SCTID:93468003|ICD9:228.02|ICD10:D18.02|UMLS:C0154050 owl:Class NCBITaxon:777 biolink:NamedThing Coxiella burnetii tmpak2llvmy_mondo_relaxed.owl Rickettsia diaporica|Rickettsia burneti GC_ID:11|PMID:9226923 ncbi_taxonomy owl:Class NCBITaxon:776 biolink:NamedThing Coxiella tmpak2llvmy_mondo_relaxed.owl Burnetia|Coxiella GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014518 biolink:NamedThing platelet-type bleeding disorder 19 Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene. tmpak2llvmy_mondo_relaxed.owl isolated hereditary giant platelet disorder caused by mutation in PRKACG|PRKACG isolated hereditary giant platelet disorder|severe autosomal recessive macrothrombocytopenia|bleeding disorder, platelet-type, 19|BDPLT19 ICD10:D69.4|UMLS:C4015405|DOID:0111048|Orphanet:438207|OMIM:616176 owl:Class MONDO:0016361 biolink:NamedThing isolated hereditary giant platelet disorder tmpak2llvmy_mondo_relaxed.owl isolated inherited macrothrombocytopenia|isolated hereditary macrothrombocytopenia|isolated hereditary giant platelet disorder|isolated inherited giant platelet disorder Orphanet:220452|UMLS:CN226911|ICD10:D69.1 owl:Class MONDO:0025514 biolink:NamedThing livedoid vasculopathy Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. tmpak2llvmy_mondo_relaxed.owl livedo vasculitis|idiopathic atrophic blanche|white atrophy|livedoid vasculopathy|livedo reticularis with summer ulcerations|livedo reticularis with winter ulcerations|segmental hyalinizing vasculopathy|livedoid vasculitis UMLS:C0343081|Orphanet:542643|GARD:0012784|ICD9CM:709.1|SCTID:238762002|DOID:0040099|ICD9:709.1|ICD10:L95.0|ICD10CM:L95.0 owl:Class MONDO:0044967 biolink:NamedThing limb disorder A disease or disorder that involves the limb. tmpak2llvmy_mondo_relaxed.owl disorder of extremity|limb disease or disorder|disease of limb|limb disease|disorder of limb|disease or disorder of limb UMLS:C1290877|SCTID:128605003|ICD9:V49.1 owl:Class MONDO:0020523 biolink:NamedThing familial parathyroid adenoma An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary parathyroid gland adenoma Orphanet:99877|UMLS:C1840403|ICD10:E21.0 owl:Class MONDO:0017582 biolink:NamedThing pituitary adenocarcinoma A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. tmpak2llvmy_mondo_relaxed.owl pituitary adenocarcinoma (disease)|cancer of the pituitary|cancer of pituitary|carcinoma of the pituitary|cancer of the pituitary gland|carcinoma of the pituitary gland|pituitary gland adenocarcinoma|carcinoma of pituitary gland|pituitary gland cancer|pituitary gland carcinoma|PTCA|carcinoma of pituitary|pituitary carcinoma|cancer of pituitary gland pituitary adenocarcinoma (disease) NCIT:C4536|ICD10:C75.1|ICDO:8272/3|HP:0011763|DOID:4916|UMLS:C0346300|ONCOTREE:PTCA|Orphanet:300385|SCTID:254955001 owl:Class MONDO:0002415 biolink:NamedThing bone carcinoma A carcinoma that involves the bone element. tmpak2llvmy_mondo_relaxed.owl bone element carcinoma|carcinoma of bone element DOID:2762 owl:Class MONDO:0018292 biolink:NamedThing congenital disorder of glycosylation-related bone disorder tmpak2llvmy_mondo_relaxed.owl CDG-related bone disorder Orphanet:371195|ICD10:E77.8 owl:Class NCBITaxon:519 biolink:NamedThing Bordetella parapertussis tmpak2llvmy_mondo_relaxed.owl Acinetobacter parapertussis|Bacillus parapertussis|Haemophilus parapertussis GC_ID:11|PMID:8782670|PMID:8240949 ncbi_taxonomy owl:Class NCBITaxon:517 biolink:NamedThing Bordetella tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:11491321 ncbi_taxonomy owl:Class MONDO:0020583 biolink:NamedThing chromosome 17 abnormality An irregularity in the structure of chromosome 17. tmpak2llvmy_mondo_relaxed.owl chromosome 17 abnormality NCIT:C129438 owl:Class MONDO:0019040 biolink:NamedThing chromosomal disorder Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) tmpak2llvmy_mondo_relaxed.owl chromosome disorders, autosomal|autosomal chromosome disorders|chromosome disorder|chromosome abnormality disorder|disorders, chromosomal|chromosomal disorder|disorder, chromosome abnormality|autosomal chromosome disorder|disorders, chromosome|chromosome disorder, autosomal|chromosomal disease|disorder, chromosomal|disorder, chromosome|chromosomal disorders|chromosome abnormality disorders NCIT:C34470|SCTID:409709004|DOID:0080014|MESH:D025063|ICD9:758.89|Orphanet:68335 owl:Class MONDO:0013472 biolink:NamedThing fatal infantile hypertonic myofibrillar myopathy tmpak2llvmy_mondo_relaxed.owl myofibrillar myopathy type 7|fatal infantile hypertonic myofibrillar myopathy|alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related|MFM, fatal infantile hypertonic, alpha-B crystallin-related Orphanet:280553|UMLS:C3151236|OMIM:613869|ICD10:G71.2|DOID:0080309 owl:Class MONDO:0018779 biolink:NamedThing hypercontractile muscle stiffness syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN776841|Orphanet:476403 owl:Class MONDO:0030933 biolink:NamedThing Joubert syndrome 37 tmpak2llvmy_mondo_relaxed.owl JBTS37|Joubert syndrome 37 OMIM:619185 owl:Class MONDO:0032698 biolink:NamedThing neurodevelopmental disorder with central and peripheral motor dysfunction tmpak2llvmy_mondo_relaxed.owl NEDCPMD|NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION OMIM:618356 owl:Class GO:0010927 biolink:NamedThing cellular component assembly involved in morphogenesis The cellular component assembly that is part of the initial shaping of the component during its developmental progression. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048646 biolink:NamedThing anatomical structure formation involved in morphogenesis The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpak2llvmy_mondo_relaxed.owl formation of an anatomical structure involved in morphogenesis owl:Class MONDO:0019210 biolink:NamedThing cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). tmpak2llvmy_mondo_relaxed.owl trabecular skin carcinoma|cutaneous neuroendocrine carcinoma|MCC|Merkel cell cancer|neuroendocrine skin carcinoma|Merkel cell carcinoma|neuroendocrine carcinoma of the skin|carcinoma, Merkel cell|Merkel cell tumor|carcinoma of Merkel cell|neuroendocrine carcinoma of skin|trabecular cancer|Merkle tumors|cutaneous APUDoma ICD10:C44.7|ICD10:C44.6|EFO:1001471|GARD:0009266|ONCOTREE:MCC|UMLS:C0007129|ICDO:8247/3|MESH:D015266|ICD10:C44.3|Orphanet:79140|NCIT:C9231|SCTID:253001006|ICD9:209.36 owl:Class MONDO:0014601 biolink:NamedThing autosomal recessive spinocerebellar ataxia 20 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|spinocerebellar ataxia, autosomal recessive type 20|autosomal recessive spinocerebellar ataxia type 20|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive 20|SCAR20|autosomal recessive cerebellar ataxia caused by mutation in SNX14|SNX14 autosomal recessive cerebellar ataxia DOID:0080066|ICD10:Q87.8|UMLS:C4225355|OMIM:616354|Orphanet:397709 owl:Class MONDO:0013336 biolink:NamedThing chromosome 19p13.13 deletion syndrome 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). tmpak2llvmy_mondo_relaxed.owl chromosome 19P13.13 Duplication syndrome|monosomy 19p13.13|19p13.13 microdeletion syndrome|chromosome 19p13.13 deletion syndrome|Del(19)(p13.13) Orphanet:357001|UMLS:C3150894|ICD10:Q93.5|SCTID:764440006|DOID:0060426|UMLS:CN204595|OMIM:613638 owl:Class UBERON:0004225 biolink:NamedThing respiratory system smooth muscle A portion of smooth muscle tissue that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl airway smooth muscle|smooth muscle of respiratory system|airway smooth muscle cell|respiratory smooth muscle owl:Class UBERON:0010391 biolink:NamedThing parametrium The subserous connective tissue of the pelvic floor of the supracervical portion of the uterus. The parametrium extends laterally between the layers of the broad ligament. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003885 biolink:NamedThing mesometrium A mesentery that is part of a uterus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesentery of uterus owl:Class MONDO:0016387 biolink:NamedThing mitochondrial oxidative phosphorylation disorder tmpak2llvmy_mondo_relaxed.owl OXPHOS disease|OXPHOS system deficiency Orphanet:223713|UMLS:CN201288 owl:Class UBERON:0010427 biolink:NamedThing ciliary processes The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. tmpak2llvmy_mondo_relaxed.owl processus ciliares|ciliary processes set|ciliary processes|set of ciliary processes|ciliary process owl:Class GO:0071310 biolink:NamedThing cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070887 biolink:NamedThing cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001055 biolink:NamedThing conjunctival pterygium tmpak2llvmy_mondo_relaxed.owl web eye DOID:10526 owl:Class MONDO:0005085 biolink:NamedThing pterygium A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder. tmpak2llvmy_mondo_relaxed.owl surfer's eye|pterygium of conjunctiva and cornea ICD10:H11.0|MESH:D011625|SCTID:77489003|DOID:0002116|ICD9:372.4|ICD9:372.40|ICD10:H11.00|ICD10:H11.009|UMLS:C0033999|NCIT:C133744|EFO:0000678 owl:Class UBERON:0014886 biolink:NamedThing distal epiphysis of distal phalanx of manual digit tmpak2llvmy_mondo_relaxed.owl distal end of distal phalanx of finger|head of distal phalanx of digit of manus|head of distal phalanx of finger|head of distal phalanx of digit of hand owl:Class MONDO:0043731 biolink:NamedThing lytic metastatic bone lesion Dissolution of bone that particularly involves the removal or loss of calcium. tmpak2llvmy_mondo_relaxed.owl lytic metastatic bone lesion|osteolytic lesion|osteolysis|Osteolyses NCIT:C35371|MESH:D010014|SCTID:203522001|EFO:1001821 Editor note: finding in NCIT owl:Class MONDO:0000837 biolink:NamedThing bone resorption disease A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpak2llvmy_mondo_relaxed.owl DOID:0080011|MESH:D001862 owl:Class MONDO:0013666 biolink:NamedThing Stickler syndrome, type 5 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. tmpak2llvmy_mondo_relaxed.owl COL9A2 autosomal recessive Stickler syndrome|STL5|autosomal recessive Stickler syndrome caused by mutation in COL9A2|STICKLER syndrome, type V OMIM:614284|UMLS:C3280342 owl:Class MONDO:0016647 biolink:NamedThing autosomal recessive Stickler syndrome A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. tmpak2llvmy_mondo_relaxed.owl Stickler syndrome, autosomal recessive ICD10:Q87.5|Orphanet:250984|UMLS:CN201875 owl:Class MONDO:0011146 biolink:NamedThing tetrasomy 12p Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. tmpak2llvmy_mondo_relaxed.owl Teschler-Nicola Killian syndrome|tetrasomy 12P, Mosaic|Pallister-Killian syndrome|Isochromosome 12p syndrome|Pallister Killian syndrome|PKS|Isochromosome 12p mosaicism|Killian Teschler-Nicola syndrome|tetrasomy type 12p|Isochromosome 12P syndrome|Pallister mosaic syndrome|chromosome 12, Isochromosome 12p syndrome|Hexasomy 12P, Mosaic|Killian syndrome|Pallister-Killian mosaic syndrome ICD9:758.81|Orphanet:884|UMLS:C0265449|NCIT:C75458|SCTID:9527009|OMIM:601803|ICD10:Q99.8|MESH:C538105|GARD:0008421 owl:Class MONDO:0015880 biolink:NamedThing syndromic diaphragmatic or thoracic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:180779|UMLS:CN226770 owl:Class NCBITaxon:116704 biolink:NamedThing Eubrachyura tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:6795 ncbi_taxonomy owl:Class NCBITaxon:6752 biolink:NamedThing Brachyura tmpak2llvmy_mondo_relaxed.owl true crabs|short-tailed crabs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005815 biolink:NamedThing pancreatic neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl PNEN|neoplasm of endocrine pancreas|malignant tumor of endocrine pancreas|endocrine pancreas neoplasm (disease)|pancreatic neuroendocrine neoplasm|endocrine pancreas cancer|Islet cell tumors|islet cell tumour|malignant pancreatic endocrine tumor|endocrine pancreas tumor|endocrine pancreas neoplasm|neuroendocrine neoplasm of pancreas|islet cell neoplasm|pancreatic endocrine neoplasm|Islet of Langerhans tumor|islet cell tumor|tumor of endocrine pancreas|pancreatic NEN ICDO:8150/1|ICD10:D13.7|Orphanet:506052|DOID:1799|SCTID:254611009|NCIT:C27031|EFO:0007331|ICD10:C25.4|GARD:0007311 Editor note: classified as carcinoma in EFO owl:Class MONDO:0007716 biolink:NamedThing alpha thalassemia-intellectual disability syndrome type 1 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. tmpak2llvmy_mondo_relaxed.owl Alpha-thalassemia/mental retardation syndrome, deletion-type|ATR-16 syndrome|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|Alpha thalassemia-intellectual disability syndrome, deletion type|ATR syndrome linked to chromosome 16|alpha-thalassemia/mental retardation syndrome, type 1|alpha-thalassemia/intellectual disability syndrome, type 1|Alpha thalassemia-intellectual disability syndrome|Alpha-thalassemia/intellectual disability syndrome, deletion-type|mental retardation with Hemoglobin H|alpha thalassemia-retardation syndrome|ATR syndrome, deletion type|Hemoglobin H-related mental retardation|intellectual disability with Hemoglobin H|alpha-thalassemia/intellectual disability syndrome, deletion-type|chromosome 16P deletion syndrome|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|ATR, deletion-type|alpha-thalassemia/mental retardation syndrome, deletion-type|Hemoglobin H-related intellectual disability|Alpha thalassemia-mental retardation syndrome|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|alpha thalassemia-intellectual disability syndrome, deletion type DOID:0110029|ICD10:D56.0|UMLS:C0475813|SCTID:277918006|OMIM:141750|UMLS:C0795917|MESH:C563050|Orphanet:98791|ICD9:282.49 owl:Class MONDO:0019050 biolink:NamedThing inherited hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. tmpak2llvmy_mondo_relaxed.owl Hemoglobinopathies / iron metabolism|hereditary hemoglobinopathy|hemoglobinopathy|hemoglobinopathies ICD10:D56.3|ICD10:D57.8|ICD10:D56.2|ICD10:D58.8|UMLS:C0019045|ICD10:D56.1|ICD10:D58.1|ICD10:D58.2|NCIT:C3092|DOID:2860|ICD9:282.7|ICD10:D57.1|GARD:0012455|ICD10:D56.9|UMLS:C1960031|ICD10:D57.2|SCTID:427306008|MedDRA:10060892|Orphanet:68364|ICD10:D56.4|ICD10:D57.3|ICD10:D56.8|ICD10:D56.0|ICD10:D58.0|MESH:D006453|ICD10:D57.0|ICD10:D58.9 owl:Class UBERON:0003102 biolink:NamedThing surface structure Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. tmpak2llvmy_mondo_relaxed.owl surface structures|anatomical surface feature|surface feature|surface region owl:Class UBERON:0010760 biolink:NamedThing supraglenoid tubercle The supraglenoid tubercle is a region of the scapula to which the long head of the biceps brachii muscle attaches. tmpak2llvmy_mondo_relaxed.owl supraglenoid tuberosity|tuberculum supraglenoidale owl:Class UBERON:0005813 biolink:NamedThing tubercle A round nodule, small eminence, or warty outgrowth found on bones, skin, or within the lungs in tuberculosis. They are also found on the leading edge of Humpback Whale's flippers, improving fluid flow over the flipper's surface[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008301 biolink:NamedThing Guttmacher syndrome Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. tmpak2llvmy_mondo_relaxed.owl preaxial deficiency-postaxial polydactyly-hypospadias syndrome|autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|preaxial deficiency, postaxial polydactyly and hypospadias|preaxial deficiency, postaxial polydactyly, and hypospadias OMIM:176305|MESH:C538278|SCTID:722452004|ICD10:Q87.2|GARD:0004470|UMLS:C1867801|DOID:0111544|Orphanet:2957 owl:Class CHEBI:47788 biolink:NamedThing 3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. tmpak2llvmy_mondo_relaxed.owl a 3-oxosteroid|3-Oxosteroid|3-oxo steroids|3-oxosteroids owl:Class CHEBI:3992 biolink:NamedThing cyclic ketone tmpak2llvmy_mondo_relaxed.owl Cyclic ketone|cyclic ketones owl:Class CL:0002077 biolink:NamedThing ecto-epithelial cell An epithelial cell derived from ectoderm. tmpak2llvmy_mondo_relaxed.owl FMA:69074 tmeehan 2010-06-29T03:38:22Z cell owl:Class UBERON:0004233 biolink:NamedThing lower respiratory tract smooth muscle A portion of smooth muscle tissue that is part of a lower respiratory tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower respiratory tract non-striated muscle|involuntary muscle of lower respiratory tract|smooth muscle tissue of lower respiratory tract|lower respiratory tract smooth muscle tissue|non-striated muscle of lower respiratory tract|smooth muscle of lower respiratory tract|lower respiratory tract involuntary muscle owl:Class MONDO:0021514 biolink:NamedThing benign neoplasm of pericardium A benign neoplasm that involves the pericardium. tmpak2llvmy_mondo_relaxed.owl benign tumor of pericardium|pericardium benign neoplasm|benign neoplasm of the pericardium|benign pericardial neoplasm|benign pericardial tumor|benign tumor of the pericardium SCTID:92289001|NCIT:C8536|UMLS:C0685118 owl:Class GO:0002887 biolink:NamedThing negative regulation of myeloid leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl down regulation of myeloid leukocyte mediated immunity|downregulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity|down-regulation of myeloid leukocyte mediated immunity owl:Class GO:0045911 biolink:NamedThing positive regulation of DNA recombination Any process that activates or increases the frequency, rate or extent of DNA recombination. tmpak2llvmy_mondo_relaxed.owl stimulation of DNA recombination|up-regulation of DNA recombination|upregulation of DNA recombination|up regulation of DNA recombination|activation of DNA recombination owl:Class GO:0000018 biolink:NamedThing regulation of DNA recombination Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006284 biolink:NamedThing major salivary gland carcinoma A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland. tmpak2llvmy_mondo_relaxed.owl major salivary gland carcinoma|carcinoma of the Major salivary gland|carcinoma of Major salivary gland|major salivary gland cancer|carcinoma of major salivary gland EFO:1000344|NCIT:C5907|UMLS:C1334549 owl:Class NCBITaxon:39824 biolink:NamedThing Klebsiella granulomatis tmpak2llvmy_mondo_relaxed.owl Calymmatobacterium granulomatis|Encapsulatus inguinalis|Donovania granulomatis PMID:10555350|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:570 biolink:NamedThing Klebsiella tmpak2llvmy_mondo_relaxed.owl Calymmatobacterium|Hyalococcus|Donovania PMID:12635932|PMID:10555350|GC_ID:11|PMID:11411716 NCBITaxon:39823 ncbi_taxonomy owl:Class MONDO:0014422 biolink:NamedThing vesicoureteral reflux 8 Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene. tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux (disease) caused by mutation in TNXB|VUR8|TNXB vesicoureteral reflux (disease)|vesicoureteral reflux type 8|vesicoureteral reflux 8 OMIM:615963|UMLS:C4014831 owl:Class MONDO:0017329 biolink:NamedThing familial vesicoureteral reflux Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. tmpak2llvmy_mondo_relaxed.owl familial VUR|hereditary vesicoureteral reflux (disease) ICD10:N13.7|UMLS:CN202969|Orphanet:289365|OMIMPS:193000|SCTID:763716008 owl:Class MONDO:0010905 biolink:NamedThing cone-rod dystrophy 1 tmpak2llvmy_mondo_relaxed.owl CORD1|cone-rod dystrophy type 1|CRD1|cone-rod dystrophy 1|Crd1 MESH:C563469|DOID:0111009|OMIM:600624|UMLS:C1833564|GARD:0010651 https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1 owl:Class MONDO:0011271 biolink:NamedThing rigid spine muscular dystrophy 1 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. tmpak2llvmy_mondo_relaxed.owl classic multiminicore disease|RSS|classic multiminicore myopathy|myopathy, Sepn1-related|desmin-related myopathy with Mallory bodies|muscular dystrophy, congenital, Eichsfeld type|MDRS1|severe classic form multiminicore disease|minicore myopathy, Severe classic form|RSMD1|severe classic form multicore myopathy|rigid spine muscular dystrophy 1|multiminicore disease, Severe classic form|multicore myopathy, Severe classic form|rigid spine syndrome caused by mutation in SELENON|Eichsfeld type congenital muscular dystrophy|SEPN1-related myopathy|congenital merosin-positive muscular dystrophy with early spine rigidity|classic MmD|severe classic form minicore myopathy|SELENON rigid spine syndrome|rigid spine muscular dystrophy type 1|rigid spine syndrome|muscular dystrophy, congenital, merosin-positive, with early spine rigidity ICD10:G71.2|UMLS:C0410180|OMIM:602771|ICD10:G71.8|DOID:0110633|NCIT:C126691|SCTID:240063002 owl:Class MONDO:0010281 biolink:NamedThing Danon disease Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Danon disease|X-linked vacuolar cardiomyopathy and myopathy|vacuolar cardiomyopathy and myopathy, X-linked|GSD IIb, formerly|lysosomal glycogen storage disease without acid maltase deficiency|Antopol disease|vacuolar cardiomyopathy and myopathy X-linked|lysosomal glycogen storage disease with normal acid maltase activity|glycogen storage disease type IIb|glycogen storage disease type 2b (formerly)|glycogen storage cardiomyopathy|lysosomal glycogen storage disease caused by mutation in LAMP2|pseudoglycogenosis 2|GSD2B (formerly)|lysosomal glycogen storage disease without acid maltase deficiency (formerly)|GSD due to LAMP-2 deficiency|LAMP2 lysosomal glycogen storage disease|glycogen storage disease IIb|ANTOPOL disease|glycogen storage disease due to LAMP-2 deficiency|GSD IIb|glycogen storage disease limited to the heart|pseudoglycogenosis II|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to LAMP-2 deficiency MESH:D052120|ICD9:759.89|OMIM:300257|EFO:1001333|ICD10:E74.0|DOID:0050437|SCTID:419097006|NCIT:C84735|Orphanet:34587|GARD:0009730|UMLS:C0878677 https://rarediseases.info.nih.gov/diseases/9730/danon-disease owl:Class MONDO:0002412 biolink:NamedThing glycogen storage disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. tmpak2llvmy_mondo_relaxed.owl glycogenosis|inborn error of glycogen metabolic process|rare inborn error of glycogen metabolic process|glycogenoses|glycogen storage disease|inborn glycogen metabolic process disorder|inborn glycogen storage disorder|glycogen storage disorder|GSD|glycogen metabolism disorder MedDRA:10061990|DOID:0050728|ICD10:E74.00|DOID:2747|ICD10:E74.0|Orphanet:79201|ICD9:271.0|MESH:D006008|UMLS:C0017919|NCIT:C61272|SCTID:29633007 owl:Class MONDO:0019337 biolink:NamedThing autoimmune bullous skin disease An autoimmune disease characterized by blisters on the skin. tmpak2llvmy_mondo_relaxed.owl bullous skin disease|bullous dermatosis DOID:8502|Orphanet:79669|ICD9:694.8|SCTID:7231009|ICD9:694.9|EFO:1000673|UMLS:CN206006 owl:Class MONDO:0017841 biolink:NamedThing autoimmune disease with skin involvement A hypersensitivity reaction type II disease that involves the skin of body. tmpak2llvmy_mondo_relaxed.owl autoimmune disease of skin and connective tissue|integument hypersensitivity reaction type II disease|skin of body hypersensitivity reaction type II disease 2022-03-01 DOID:0060039|UMLS:CN203818|Orphanet:315350 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoimmune disease' MONDO_0007179 owl:Class MONDO:0021233 biolink:NamedThing ear neoplasm A neoplasm (disease) that involves the ear. tmpak2llvmy_mondo_relaxed.owl Ear neoplasms|neoplasm of Ear|ear tumor|tumor of the Ear|neoplasm of the Ear|neoplasm of ear|Ear tumor|ear neoplasm (disease)|tumor of Ear|tumor of ear NCIT:C3000 owl:Class GO:0007088 biolink:NamedThing regulation of mitotic nuclear division Any process that modulates the frequency, rate or extent of mitosis. tmpak2llvmy_mondo_relaxed.owl regulation of mitosis owl:Class GO:0051783 biolink:NamedThing regulation of nuclear division Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044912 biolink:NamedThing metastatic malignant neoplasm in the spinal cord A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma. tmpak2llvmy_mondo_relaxed.owl Metastatic malignant neoplasm in the spinal cord|Metastatic tumor to the spinal cord|Secondary malignant neoplasm to the spinal cord|Metastatic malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Secondary malignant tumor to the spinal cord|metastasis to spinal cord NCIT:C4585|SCTID:94600009|UMLS:C0347016 owl:Class MONDO:0003544 biolink:NamedThing spinal cord cancer A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the spinal cord|spinal cancer|malignant spinal cord neoplasm|malignant spinal cord tumor|intraspinal tumor|malignant tumor of spinal cord|spinal neoplasm|tumor of the spinal cord|cancer of spinal cord|malignant tumor of the spinal cord|spinal cord cancer|spinal cord neoplasm|malignant neoplasm of spinal cord|spine cancer ICD9:192.2|DOID:5612|SCTID:363475005|ICD10:C72.0|NCIT:C3572|UMLS:C0153646 owl:Class GO:0002523 biolink:NamedThing leukocyte migration involved in inflammatory response The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. tmpak2llvmy_mondo_relaxed.owl immune cell migration during inflammatory response|immune cell trafficking during inflammatory response|leucocyte trafficking during inflammatory response|leucocyte migration during inflammatory response|leukocyte trafficking during inflammatory response|leukocyte migration during inflammatory response owl:Class GO:0050900 biolink:NamedThing leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body. tmpak2llvmy_mondo_relaxed.owl immune cell migration|immune cell trafficking|leucocyte trafficking|leukocyte trafficking|leucocyte migration owl:Class UBERON:0014907 biolink:NamedThing intersomitic vessel One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites. tmpak2llvmy_mondo_relaxed.owl intersegmental vessels|intersegmental vessel|intersomitic vessels|segmental vessel|intersomitic blood vessel owl:Class MONDO:0021175 biolink:NamedThing herpetic vulvovaginitis Infection of the vulva and the vagina caused by herpes simplex virus. tmpak2llvmy_mondo_relaxed.owl herpetic vulvovaginitis|Herpetic Vulvovaginitis|Herpetic vulvovaginitis SCTID:27420004|NCIT:C34697|UMLS:C0019386|ICD9:054.11 owl:Class MONDO:0023557 biolink:NamedThing infective vaginitis An infectious process affecting the vagina. Symptoms include pain and purulent discharge. tmpak2llvmy_mondo_relaxed.owl Vaginal Infection|Infective vaginitis|Vaginal infection|vaginal infection|PV - Vaginal infection NCIT:C84353|SCTID:237091009|UMLS:C0404521 owl:Class MONDO:0012448 biolink:NamedThing hereditary spastic paraplegia 33 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 33|hereditary spastic paraplegia caused by mutation in ZFYVE27|spastic paraplegia 33, autosomal dominant|ZFYVE27 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 33|SPG33 OMIM:610244|UMLS:C1853251|DOID:0110784|MESH:C565214 owl:Class MONDO:0019064 biolink:NamedThing hereditary spastic paraplegia Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. tmpak2llvmy_mondo_relaxed.owl French settlement disease|Strumpell-Lorrain disease|Strümpell-Lorrain disease|SPG|spastic paraplegia|familial spastic paraplegia|HSP|familial spastic paraparesis|FSP|hereditary spastic paraparesis MESH:D015419|Orphanet:685|MedDRA:10019903|ICD9:334.1|SCTID:39912006|OMIMPS:303350|DOID:2476|NCIT:C140267|GARD:0006637|ICD10:G11.4 https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia owl:Class GO:1901700 biolink:NamedThing response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpak2llvmy_mondo_relaxed.owl response to oxygen molecular entity owl:Class MONDO:0010962 biolink:NamedThing diffuse nonepidermolytic palmoplantar keratoderma A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. tmpak2llvmy_mondo_relaxed.owl Thost-Unna disease|Thost-Unna palmoplantar keratoderma|keratoderma, nonepidermolytic palmoplantar|palmoplantar keratoderma, nonepidermolytic|NEPPK|Unna-Thost palmoplantar keratoderma|PPK diffusa circumscripta|tylosis|diffuse nonepidermolytic palmoplantar keratoderma|diffuse NEPPK|KRT1-related diffuse nonepidermolytic keratoderma|PPKNE|nonepidermolytic palmoplantar keratoderma Orphanet:530838|GARD:0005186|OMIM:600962|Orphanet:496 owl:Class MONDO:0006588 biolink:NamedThing nonepidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. tmpak2llvmy_mondo_relaxed.owl NEPPK|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|diffuse nonepidermolytic palmomplantar keratoderma|tylosis|Thost-Unna syndrome|Unna-Thost syndrome|diffuse palmoplantar keratoderma, Bothnian type|non-epidermolytic palmoplantar keratoderma SCTID:716105001|Orphanet:2337|ICD10:Q82.8|EFO:1000743|DOID:0050428 Editor note: in ORDO this is AD but this leads to inconsistencies owl:Class MONDO:0006043 biolink:NamedThing metaplastic breast carcinoma A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells. tmpak2llvmy_mondo_relaxed.owl metaplastic breast carcinoma|metaplastic carcinoma of the breast|breast metaplastic carcinoma|metaplastic carcinoma of breast|metaplastic breast cancer ICD10:C50.1|ICD10:C50.8|ICD10:C50.3|Orphanet:213531|NCIT:C5164|SCTID:763479005|EFO:1000040|ICD10:C50.4|ICD10:C50.0|ONCOTREE:MBC|DOID:4680|GARD:0010804|ICD10:C50.5|UMLS:C1334708|ICD10:C50.6|ICD10:C50.2 owl:Class MONDO:0013083 biolink:NamedThing neuroblastoma, susceptibility to, 3 Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to neuroblastoma 3|NBLST3|neuroblastoma, susceptibility to, 3|neuroblastoma, susceptibility to, type 3|neuroblastoma caused by mutation in ALK|ALK neuroblastoma OMIM:613014 owl:Class MONDO:0005072 biolink:NamedThing neuroblastoma Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl neuroblastoma (Schwannian Stroma-poor)|neural Crest tumor, malignant|neuroblastoma|neuroblastoma, malignant|NB NCIT:C3270|ICDO:9500/3|NIFSTD:birnlex_12631|GARD:0007185|MESH:D009447|ICD10:C74.9|SCTID:432328008|ONCOTREE:NBL|DOID:769|EFO:0000621|Orphanet:635|UMLS:C0027819|UMLS:CN205405|MedDRA:10029260 NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma owl:Class MONDO:0020479 biolink:NamedThing pituitary gigantism The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. tmpak2llvmy_mondo_relaxed.owl hypophyseal gigantism|gigantism|infantile and juvenile forms of acromegaly SCTID:86073008|NCIT:C93046|GARD:0006506|MedDRA:10018265|ICD10:E22.0|MESH:D005877|Orphanet:99725 owl:Class MONDO:0019927 biolink:NamedThing growth hormone-producing pituitary gland neoplasm An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. tmpak2llvmy_mondo_relaxed.owl growth hormone producing tumor of pituitary|somatotropinoma of the pituitary|somatotropinoma of pituitary|growth hormone producing pituitary gland tumor|growth hormone secreting neoplasm of the pituitary gland|growth hormone secreting tumor of pituitary|growth hormone secreting neoplasm of pituitary gland|growth hormone secreting pituitary tumor|growth hormone secreting neoplasm of the pituitary|growth hormone producing neoplasm of the pituitary gland|growth hormone producing tumor|somatotroph neoplasm|growth hormone producing pituitary tumor|somatotroph tumor|growth hormone secreting pituitary neoplasm|growth hormone producing pituitary gland neoplasm|pituitary somatotropinoma|growth hormone producing tumor of the pituitary gland|growth hormone secreting pituitary gland tumor|growth hormone secreting neoplasm of pituitary|growth hormone producing neoplasm of the pituitary|growth hormone producing tumor of the pituitary|growth hormone secreting tumor of the pituitary gland|pituitary gland somatotropinoma|growth hormone producing pituitary neoplasm|growth hormone secreting tumor of pituitary gland|growth hormone producing tumor of pituitary gland|somatotropinoma|growth hormone producing neoplasm of pituitary|growth hormone-producing pituitary gland neoplasm|somatotropinoma of pituitary gland|growth hormone secreting tumor of the pituitary|growth hormone secreting pituitary gland neoplasm|growth hormone producing neoplasm of pituitary gland|somatotropinoma of the pituitary gland|Growth hormone-producing pituitary gland tumor NCIT:C7911|UMLS:C0278864 owl:Class MONDO:0004411 biolink:NamedThing duodenal gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. tmpak2llvmy_mondo_relaxed.owl duodenal gastrinoma|duodenum gastrin-producing neuroendocrine tumor|gastrinoma of duodenum|gastrin producing tumor of the duodenum|duodenal gastrin-producing neuroendocrine tumor|malignant duodenal gastrinoma|duodenal G-cell gastrin producing tumor|gastrin producing tumor of duodenum|gastrin-producing neuroendocrine tumor of duodenum|duodenal gastrin-producing NET|gastrinoma of the duodenum NCIT:C5731|UMLS:C1333321|EFO:1000224|DOID:7959 owl:Class MONDO:0015063 biolink:NamedThing duodenal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenal neuroendocrine tumor Orphanet:100076|UMLS:CN197356|NCIT:C135080 owl:Class UBERON:0003584 biolink:NamedThing mammary gland connective tissue The fibrous supportive tissue of the mammary gland. tmpak2llvmy_mondo_relaxed.owl connective tissue of lactiferous gland|connective tissue of lobe of breast|mammary stroma|lactiferous gland portion of connective tissue|lactiferous gland connective tissue|lactiferous gland stroma|connective tissue of mammary gland|stroma of lactiferous gland|mammary gland stroma|connective tissue of lobe of mammary gland owl:Class MONDO:0012689 biolink:NamedThing premature ovarian failure 5 Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure type 5|NOBOX primary ovarian failure|Pof5|primary ovarian failure caused by mutation in NOBOX|premature ovarian failure 5 MESH:C566921|OMIM:611548|UMLS:C1969060 owl:Class MONDO:0006207 biolink:NamedThing fallopian tube carcinosarcoma A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl fallopian tube malignant mixed Mullerian tumor|fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (Müllerian) tumor NCIT:C40124|UMLS:C1517117|EFO:1000252|DOID:1970 owl:Class MONDO:0006206 biolink:NamedThing fallopian tube carcinoma A carcinoma that arises from epithelial cells of the fallopian tube. tmpak2llvmy_mondo_relaxed.owl fallopian tube carcinoma|carcinoma of fallopian tube|cancer of fallopian tube|cancer of the fallopian tube|fallopian tube Ca|fallopian tube cancer|carcinoma of the fallopian tube UMLS:C0238122|DOID:1963|NCIT:C3867|SCTID:276870001|EFO:1000251 owl:Class GO:0044267 biolink:NamedThing cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. tmpak2llvmy_mondo_relaxed.owl cellular protein metabolism owl:Class MONDO:0008725 biolink:NamedThing congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. tmpak2llvmy_mondo_relaxed.owl lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|LCAH|adrenal hyperplasia 1|CLAH|lipoid congenital adrenal hyperplasia|congenital adrenal hyperplasia lipoid Orphanet:90790|ICD10:E25.0|UMLS:C0342474|OMIM:201710|SCTID:44231009|GARD:0001465 owl:Class MONDO:0019595 biolink:NamedThing 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to adrenal and testicular steroidogenesis defect 2022-03-01 Orphanet:90786|UMLS:CN227657 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class UBERON:0003618 biolink:NamedThing aorta tunica media The middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers. tmpak2llvmy_mondo_relaxed.owl tunica media of dorsal aorta|adult aorta tunica media|tunica media of aorta|dorsal aorta tunica media|trunk of aortic tree tunica media|tunica media of adult aorta|tunica media of trunk of aortic tree owl:Class UBERON:0002522 biolink:NamedThing tunica media The middle layer of an artery or vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl tunica media vasorum owl:Class HGNC:7678 biolink:NamedThing NDP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012799 biolink:NamedThing hypertrophic cardiomyopathy 11 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy 11|cardiomyopathy familial hypertrophic 11|hypertrophic cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, familial hypertrophic, type 11|cardiomyopathy, familial hypertrophic, 11|ACTC1 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 11|CMH11 UMLS:C2677506|OMIM:612098|DOID:0110317|MESH:C567419 owl:Class MONDO:0015521 biolink:NamedThing juvenile or adult CACH syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|Orphanet:157719|UMLS:CN199660 owl:Class MONDO:0011380 biolink:NamedThing leukoencephalopathy with vanishing white matter A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. tmpak2llvmy_mondo_relaxed.owl vanishing White matter leukodystrophy|CACH syndrome|leukoencephalopathy with vanishing white matter|VWM|ovarioleukodystrophy|CACH/VWM|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with central nervous system hypomyelinization|CACH|childhood ataxia with central nervous system hypomyelination/vanishing white matter|vanishing white matter leukodystrophy|vanishing white matter disease|CACH/VWM syndrome|leukoencephalopathy with vanishing WHITE matter|childhood ataxia with diffuse central nervous system hypomyelination|Cree leukoencehalopathy|childhood ataxia with central nervous system hypomyelination|Cree leukoencephalopathy|myelinosis centralis diffusa UMLS:CN199219|SCTID:447351004|GARD:0000231|Orphanet:135|DOID:0060868|NCIT:C122664|ICD10:E75.2|OMIM:603896|UMLS:C1858991 owl:Class GO:0019359 biolink:NamedThing nicotinamide nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpak2llvmy_mondo_relaxed.owl nicotinamide nucleotide synthesis|nicotinamide nucleotide formation|nicotinamide nucleotide biosynthesis|nicotinamide nucleotide anabolism owl:Class GO:0019363 biolink:NamedThing pyridine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpak2llvmy_mondo_relaxed.owl pyridine nucleotide synthesis|pyridine nucleotide anabolism|pyridine nucleotide biosynthesis|pyridine nucleotide formation owl:Class MONDO:0005798 biolink:NamedThing HIV-associated nephropathy Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. tmpak2llvmy_mondo_relaxed.owl HIV nephropathy|AIDS-associated nephropathy|AIDS-related nephropathy|HIVAN EFO:0007313|MESH:D016263|NCIT:C26918|UMLS:C0078911 owl:Class MONDO:0024571 biolink:NamedThing AIDS-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. tmpak2llvmy_mondo_relaxed.owl AIDS-related disorder|AIDS-related complications|disease associated with AIDS|AIDS/HIV - relatedDisease associated with AIDS NCIT:C4991|UMLS:C0877121 owl:Class MONDO:0001812 biolink:NamedThing parasitic eyelid infestation tmpak2llvmy_mondo_relaxed.owl parasitic eyelid infestation|parasitic infestation of eyelid ICD9:373.6|DOID:13823|UMLS:C0155183|SCTID:193922006 owl:Class MONDO:0015089 biolink:NamedThing autosomal recessive complex spastic paraplegia Autosomal recessive form of complex hereditary spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complex HSP|autosomal recessive complex SPG|autosomal recessive complicated HSP|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complicated SPG|autosomal recessive complicated spastic paraplegia UMLS:CN228909|ICD10:G11.4|Orphanet:100981 owl:Class CL:0002231 biolink:NamedThing epithelial cell of prostate An epithelial cell of the prostate. tmpak2llvmy_mondo_relaxed.owl prostate epithelial cell FMA:66817|FMA:256163 tmeehan 2010-09-07T01:49:29Z CL:1000408|CL:1000295 cell owl:Class CL:0002076 biolink:NamedThing endo-epithelial cell An epithelial cell derived from endoderm. tmpak2llvmy_mondo_relaxed.owl FMA:69075 tmeehan 2010-06-29T03:38:14Z cell owl:Class MONDO:0021722 biolink:NamedThing vulvodynia Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. tmpak2llvmy_mondo_relaxed.owl vulvodynia MESH:D056650|SCTID:238968009|ICD9:625.70 owl:Class HGNC:15469 biolink:NamedThing DNAJC6 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006561 biolink:NamedThing Lipid accumulation in hepatocytes tmpak2llvmy_mondo_relaxed.owl UMLS:C1837257 human_phenotype owl:Class HP:0031137 biolink:NamedThing Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. tmpak2llvmy_mondo_relaxed.owl 2017-06-10 15:30:13+00:00 peter human_phenotype owl:Class CHEBI:36962 biolink:NamedThing organochalcogen compound An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. tmpak2llvmy_mondo_relaxed.owl organochalcogen compounds|organochalcogen compound owl:Class CHEBI:33285 biolink:NamedThing heteroorganic entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. tmpak2llvmy_mondo_relaxed.owl heteroorganic entities|organoelement compounds owl:Class UBERON:0008436 biolink:NamedThing thoracic vertebral arch A neural arch that is part of a thoracic vertebra. tmpak2llvmy_mondo_relaxed.owl arch of thoracic vertebra owl:Class UBERON:0003861 biolink:NamedThing neural arch posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. . tmpak2llvmy_mondo_relaxed.owl arcus vertebrae (vertebralis)|vertebra dorsal arch|arcus vertebrae|vertebra neural arch|dorsal arcocentrum|arcus vertebra owl:Class MONDO:0010864 biolink:NamedThing type 1 diabetes mellitus 7 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. tmpak2llvmy_mondo_relaxed.owl IDDM7|insulin-dependent diabetes mellitus 7|diabetes mellitus, insulin-dependent, 7 ICD10:E10|DOID:0110746|OMIM:600321|MESH:C563957|UMLS:C1838259 owl:Class MONDO:0005147 biolink:NamedThing type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. tmpak2llvmy_mondo_relaxed.owl diabetes mellitis type I|insulin dependent diabetes mellitus|IDDM|juvenile diabetes|insulin dependent diabetes|diabetes mellitis type 1|immune mediated diabetes|type I diabetes|type I diabetes mellitus|type 1 diabetes|insulin-dependent diabetes mellitus KEGG:04940|ICD10:E10|MESH:D003922|NCIT:C2986|SCTID:46635009|EFO:0001359|DOID:9744 owl:Class MONDO:0005819 biolink:NamedThing laryngeal tuberculosis Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. tmpak2llvmy_mondo_relaxed.owl larynx tuberculosis|tuberculous laryngitis ICD9:012.3|NCIT:C26895|SCTID:70341005|ICD9:012.32|ICD9:012.31|MESH:D014387|UMLS:C0041315|EFO:0007337|ICD10:A15.5|DOID:1583|ICD9:012.30 owl:Class MONDO:0002647 biolink:NamedThing laryngitis An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpak2llvmy_mondo_relaxed.owl laryngeal inflammation|larynx inflammation|inflammation of larynx|laryngeal Inflammation SCTID:45913009|ICD9:464.00|DOID:3437|NCIT:C26811|UMLS:C0023067|MESH:D007827 owl:Class MONDO:0015221 biolink:NamedThing non-syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated respiratory or mediastinal malformation|nonsyndromic respiratory or mediastinal malformation Orphanet:108993 owl:Class MONDO:0020023 biolink:NamedThing respiratory or mediastinal malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98045 owl:Class MONDO:0003366 biolink:NamedThing hydrarthrosis Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl ICD9:719.08|DOID:528|MESH:D006833|ICD9:719.00|SCTID:387637008 owl:Class MONDO:0032762 biolink:NamedThing deafness, autosomal recessive 115 tmpak2llvmy_mondo_relaxed.owl DEAFNESS, AUTOSOMAL RECESSIVE 115|DFNB115 OMIM:618457|DOID:0111643 owl:Class GO:0051130 biolink:NamedThing positive regulation of cellular component organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpak2llvmy_mondo_relaxed.owl upregulation of cell organization|positive regulation of cellular component organization and biogenesis|up-regulation of cell organization|activation of cell organization|positive regulation of cell organisation|up regulation of cell organization|stimulation of cell organization owl:Class MONDO:0014190 biolink:NamedThing combined oxidative phosphorylation defect type 17 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 17|combined oxidative phosphorylation deficiency 17|COXPD17|ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in ELAC2 Orphanet:369913|DOID:0111496|ICD10:E88.8|UMLS:C3809526|OMIM:615440 owl:Class MONDO:0018157 biolink:NamedThing mitochondrial disorder due to a defect in mitochondrial protein synthesis tmpak2llvmy_mondo_relaxed.owl combined OXPHOS deficiency|combined oxidative phosphorylation defect|combined OXPHOS defect|COXPD 2022-03-01 UMLS:CN227273|ICD10:E88.8|Orphanet:35696 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class HP:0011297 biolink:NamedThing Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. tmpak2llvmy_mondo_relaxed.owl Digital anomalies|Abnormality of fingers or toes|Abnormality of digit UMLS:C3550704 peter 2012-02-11T07:16:22Z human_phenotype owl:Class HP:0002813 biolink:NamedThing Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. tmpak2llvmy_mondo_relaxed.owl Limb abnormality|Arm and/or leg bone differences|Abnormal shape of limb bone UMLS:C4082761 human_phenotype owl:Class MONDO:0008007 biolink:NamedThing tooth ankylosis Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. tmpak2llvmy_mondo_relaxed.owl secondary retention of permanent molars|ankylosis of teeth|ankylosis of tooth|permanent molars, secondary retention OF|dental ankylosis|calcareous tooth ankylosis (disease)|molar I reinclusion|abnormal fusion of dental cementum with alveolar bone|ankylosis (disease) of calcareous tooth|molar 1 reinclusion UMLS:C0155930|ICD10:K03.5|MESH:D020254|EFO:1001215|DOID:12661|SCTID:14901003|OMIM:157950|Orphanet:1077|ICD9:521.6|MedDRA:10044019|GARD:0000701 owl:Class MONDO:0002257 biolink:NamedThing ankylosis Fixation and immobility of a joint. tmpak2llvmy_mondo_relaxed.owl ankylosis|ankylosis (disease) ankylosis (disease) ICD9:718.5|MESH:D000844|SCTID:111227009|ICD10:M24.6|ICD9:718.50|HP:0031013|DOID:227 owl:Class MONDO:0002266 biolink:NamedThing malt worker's lung An extrinsic allergic alveolitis caused by infection with Aspergillus. tmpak2llvmy_mondo_relaxed.owl alveolitis due to aspergillus clavatus|Aspergillus extrinsic allergic alveolitis|Malt workers' lung|Aspergillus caused extrinsic allergic alveolitis|malt worker lung|Malt-workers' lung ICD9:495.4|UMLS:C0155888|SCTID:25897000|DOID:2314|ICD10:J67.4 owl:Class MONDO:0015243 biolink:NamedThing allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. tmpak2llvmy_mondo_relaxed.owl allergic bronchopulmonary mycosis|aspergillosis, allergic bronchopulmonary|pulmonary aspergillus disease|Hinson-Pepys disease|allergic aspergillosis|ABPA|allergic bronchopulmonary aspergillosis, familial OMIM:103920|SCTID:37981002|MedDRA:10006474|ICD10:B44.81|Orphanet:1164|DOID:13166|EFO:0007140|ICD9:518.6|NCIT:C84547|GARD:0000602|ICD10:J99.8*|ICD10:B44.1+|MESH:D001229|UMLS:C0004031 https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis owl:Class MONDO:0019079 biolink:NamedThing proximal spinal muscular atrophy Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpak2llvmy_mondo_relaxed.owl SMA EFO:0008929|UMLS:CN205570|GARD:0004531|UMLS:C4024957|ICD10:G12.1|Orphanet:70|ICD10:G12.0 https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy owl:Class MONDO:0000701 biolink:NamedThing ischemic colitis Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature. tmpak2llvmy_mondo_relaxed.owl colonic ischemia MESH:D017091|DOID:0060181|UMLS:C0162529|ICD10:K55.9|SCTID:30588004 owl:Class GO:0009141 biolink:NamedThing nucleoside triphosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside triphosphate metabolism owl:Class GO:0006753 biolink:NamedThing nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. tmpak2llvmy_mondo_relaxed.owl nucleoside phosphate metabolism owl:Class MONDO:0030906 biolink:NamedThing Trichomonas tenax infectious disease An disease or disorder caused by infection with Trichomonas tenax. tmpak2llvmy_mondo_relaxed.owl Trichomonas tenax trichomoniasis|Trichomonas tenax disease or disorder|Trichomonas tenax caused disease or disorder DOID:0050270 owl:Class MONDO:0002154 biolink:NamedThing trichomoniasis An infection that is caused by Trichomonas. tmpak2llvmy_mondo_relaxed.owl infections, Trichomonas|Trichomonas infection ICD10:A59.9|MESH:D014245|ICD10:A59|SCTID:56335008|NCIT:C35720|UMLS:C0040921|DOID:1947|ICD9:131.9|ICD9:131|ICD9:131.8 owl:Class GO:0033046 biolink:NamedThing negative regulation of sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033045 biolink:NamedThing regulation of sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation. tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C45981 biolink:NamedThing Presence of a Hormonal Syndrome tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C36285 biolink:NamedThing Endocrine System Finding tmpak2llvmy_mondo_relaxed.owl Endocrine System Finding owl:Class HGNC:9713 biolink:NamedThing PEX19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020489 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 1 tmpak2llvmy_mondo_relaxed.owl aldosterone synthase deficiency|corticosterone methyloxidase deficiency type I|CMO I|FHHA1|18-hydroxylase deficiency|CMO II|18-oxidase deficiency Orphanet:99763|UMLS:C4289986|ICD10:E27.4 owl:Class MONDO:0018541 biolink:NamedThing familial hypoaldosteronism Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). tmpak2llvmy_mondo_relaxed.owl ICD10:E27.4|Orphanet:427|SCTID:715343000|UMLS:C4275180|UMLS:CN205074 owl:Class CHEBI:39472 biolink:NamedThing 1,3,4-thiadiazole tmpak2llvmy_mondo_relaxed.owl 1,3,4-thiadiazole owl:Class CHEBI:39467 biolink:NamedThing thiadiazole tmpak2llvmy_mondo_relaxed.owl thiadiazole owl:Class MONDO:0006463 biolink:NamedThing thyroid gland mucoepidermoid carcinoma A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid thyroid carcinoma|mucoepidermoid thyroid gland carcinoma|thyroid gland mucoepidermoid carcinoma NCIT:C38762|EFO:1000590|UMLS:C1513721|DOID:4687 owl:Class MONDO:0003036 biolink:NamedThing mucoepidermoid carcinoma A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. tmpak2llvmy_mondo_relaxed.owl tumor, mucoepidermoid|MUCC|mucoepidermoid tumors|MEC|mucoepidermoid carcinoma|mucoepidermoid carcinoma (morphologic abnormality)|mucoepidermoid tumor|tumors, mucoepidermoid ICDO:8430/1|GARD:0010671|NCIT:C3772|ICDO:8430/3|DOID:4531|UMLS:C0206694|MESH:D018277|EFO:1001049|ONCOTREE:MUCC|MESH:D018298 Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma owl:Class MONDO:0009150 biolink:NamedThing hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl another syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia|ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia OMIM:225050|ICD10:Q82.4|MESH:C565604|SCTID:239050000|GARD:0002049|Orphanet:1882 https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia owl:Class UBERON:0034909 biolink:NamedThing intermaxillary suture A cranial suture in the midline of the skull that connects the left and right maxilla bones tmpak2llvmy_mondo_relaxed.owl intermaxillary suture of skull owl:Class UBERON:0003685 biolink:NamedThing cranial suture Fibrous joint in which the articulating bones or cartilages of the skull are connected by sutural ligaments (scant amount of collagenous dense connective tissue). Examples: sagittal suture, frontal suture. tmpak2llvmy_mondo_relaxed.owl suture joint of skull|suture|sutura|suture of cranium|cranium suture owl:Class GO:0060090 biolink:NamedThing molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. tmpak2llvmy_mondo_relaxed.owl protein-containing complex scaffold activity|binding, bridging|protein complex scaffold activity owl:Class GO:0003674 biolink:NamedThing molecular_function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. tmpak2llvmy_mondo_relaxed.owl molecular function molecular process owl:Class MONDO:0007710 biolink:NamedThing facial hemiatrophy Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. tmpak2llvmy_mondo_relaxed.owl parry-Romberg syndrome|hemifacial atrophy, progressive|progressive facial hemiatrophy|Romberg hemi-facial atrophy|HFA|PHA|progressive hemifacial atrophy|Romberg syndrome|hemifacial atrophy MESH:D005150|UMLS:C0015458|GARD:0007338|SCTID:718224004|NCIT:C116916|ICD10:G51.8|Orphanet:1214|OMIM:141300|DOID:1757 owl:Class MONDO:0015657 biolink:NamedThing inflammatory and autoimmune disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:166484|UMLS:CN200066 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inflammatory disease' and 'autoimmune disease'. MONDO_0021166|MONDO:0007179 owl:Class MONDO:0007066 biolink:NamedThing adenosine triphosphatase deficiency, anemia due to tmpak2llvmy_mondo_relaxed.owl adenosine triphosphatase deficiency anemia|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency, anemia due to Orphanet:1044|UMLS:C1863225|MESH:C566311|SCTID:725057008|OMIM:102800|GARD:0000548 https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency owl:Class MONDO:0001401 biolink:NamedThing female breast nipple and areola cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of nipple and areola of female breast|malignant neoplasm of nipple or areola of female breast DOID:11889|SCTID:188147009|ICD9:174.0|UMLS:C0024621 owl:Class MONDO:0019028 biolink:NamedThing amoebiasis due to Entamoeba histolytica A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. tmpak2llvmy_mondo_relaxed.owl Orphanet:67|UMLS:C2930799|ICD10:A06.7|ICD10:A06.2|ICD10:A06.8|ICD10:A06.9|ICD10:A06.1|ICD10:A06.3|ICD10:A06.0|ICD10:A06.6|MESH:C531613|ICD10:A06.5|ICD10:A06.4 owl:Class MONDO:0021762 biolink:NamedThing acrocoxomesomelic dysplasia A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. tmpak2llvmy_mondo_relaxed.owl acro-coxo-mesomelic dwarfism GARD:0000483 https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia owl:Class GO:0033144 biolink:NamedThing negative regulation of intracellular steroid hormone receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway owl:Class MONDO:0004135 biolink:NamedThing subacute lymphocytic thyroiditis Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. tmpak2llvmy_mondo_relaxed.owl Subacute lymphocytic thyroiditis|Subacute painless thyroiditis|silent thyroiditis UMLS:C1306804|NCIT:C35829|SCTID:361126006|DOID:7187|UMLS:C0271814 owl:Class MONDO:0004126 biolink:NamedThing thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. tmpak2llvmy_mondo_relaxed.owl thyroiditis (disease)|thyroiditis|thyroid gland inflammation|inflammation of thyroid gland thyroiditis (disease) NCIT:C26894|DOID:7166|ICD10:E06.9|SCTID:82119001|ICD9:245|UMLS:C0040147|ICD9:245.9|ICD10:E06|HP:0100646|MESH:D013966 owl:Class UBERON:0035767 biolink:NamedThing intrapulmonary bronchus tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002185 biolink:NamedThing bronchus the upper conducting airways of the lung; these airways arise from the terminus of the trachea tmpak2llvmy_mondo_relaxed.owl bronchi|bronchial tissue|bronchial trunk owl:Class MONDO:0001096 biolink:NamedThing mediastinum ganglioneuroblastoma A ganglioneuroblastoma arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease)|ganglioneuroblastoma of mediastinum|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma DOID:10661|UMLS:C1334653|NCIT:C6627 owl:Class MONDO:0005035 biolink:NamedThing ganglioneuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. tmpak2llvmy_mondo_relaxed.owl ganglioneuroblastoma (disease)|ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma, malignant|ganglioneuroblastoma ganglioneuroblastoma (disease) NIFSTD:birnlex_12633|MedDRA:10017708|ONCOTREE:GNBL|ICD9:171.9|Orphanet:251877|SCTID:116381000119105|NCIT:C3790|DOID:4163|HP:0006747|EFO:0000502|ICDO:9490/3|UMLS:C0206718 owl:Class MONDO:0031013 biolink:NamedThing autoimmune optic neuritis An autoimmune form of optic neuritis. tmpak2llvmy_mondo_relaxed.owl DOID:0040089 owl:Class MONDO:0000568 biolink:NamedThing autoimmune disease of central nervous system A hypersensitivity reaction type II disease that involves the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system hypersensitivity reaction type II disease|central nervous system autoimmune disease DOID:0060004 owl:Class GO:0071624 biolink:NamedThing positive regulation of granulocyte chemotaxis Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071622 biolink:NamedThing regulation of granulocyte chemotaxis Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000818 biolink:NamedThing transitional stage B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. tmpak2llvmy_mondo_relaxed.owl T2 B cell|transitional B cell|T1 B cell|transitional stage B-lymphocyte|T3 B cell|transitional stage B lymphocyte|transitional stage B-cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. cell owl:Class CL:0001201 biolink:NamedThing B cell, CD19-positive A B cell that is CD19-positive. tmpak2llvmy_mondo_relaxed.owl CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive|B-lymphocyte, CD19-positive|CD19-positive B cell https://orcid.org/0000-0001-9990-8331 cell owl:Class GO:0001959 biolink:NamedThing regulation of cytokine-mediated signaling pathway Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signaling pathway|regulation of cytokine mediated signalling pathway owl:Class MONDO:0044689 biolink:NamedThing recurrent idiopathic neuroretinitis tmpak2llvmy_mondo_relaxed.owl RINR Orphanet:499103 owl:Class MONDO:0044685 biolink:NamedThing autoimmune/inflammatory optic neuropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:499047 owl:Class MONDO:0018843 biolink:NamedThing embryonal carcinoma of the central nervous system A embryonal carcinoma that involves the central nervous system. tmpak2llvmy_mondo_relaxed.owl embryonal carcinoma of the central nervous system|central nervous system embryonal carcinoma|embryonal carcinoma of the CNS|embryonal carcinoma|embryonal carcinoma of CNS NCIT:C7010|ICD10:C71.9|DOID:7232|ONCOTREE:BEC|Orphanet:48736|UMLS:C1333377 owl:Class MONDO:0020574 biolink:NamedThing central nervous system nongerminomatous germ cell tumor Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl nongerminomatous germ cell tumor of the CNS|central nervous system nongerminomatous germ cell tumor|nongerminomatous GCT - CNS UMLS:C1696109|NCIT:C100093 owl:Class MONDO:0017967 biolink:NamedThing testicular agenesis tmpak2llvmy_mondo_relaxed.owl anorchia|empty scrotum|congenital absence of testes|absence of testes|bilateral anorchia Orphanet:325124|GARD:0005819|SCTID:371015003|ICD10:Q55.0 owl:Class MONDO:0017966 biolink:NamedThing 46,XY disorder of gonadal development tmpak2llvmy_mondo_relaxed.owl UMLS:CN227229|Orphanet:325118 owl:Class MONDO:0008935 biolink:NamedThing cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. tmpak2llvmy_mondo_relaxed.owl luteinizing hormone-releasing hormone, deficiency of, with ataxia|LHRH deficiency and ataxia|Gordon Holmes syndrome|Gordon-Holmes syndrome|luteinizing hormone-releasing hormone deficiency with ataxia|luteinizing hormone releasing hormone, deficiency of with ataxia|GDHS|cerebellar ataxia and hypogonadotropic hypogonadism|cerebellar ataxia - hypogonadism OMIM:212840|UMLS:C1859305|GARD:0003314|ICD10:G11.8|Orphanet:1173|MESH:C565870|DOID:0111587 owl:Class GO:0098856 biolink:NamedThing intestinal lipid absorption Any process in which lipids are taken up from the contents of the intestine. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006869 biolink:NamedThing lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:46209 biolink:NamedThing L-tyrosinal An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde tmpak2llvmy_mondo_relaxed.owl (2S)-2-amino-3-(p-hydroxyphenyl)propanal|TYROSINAL|L-tyr aldehyde|(2S)-2-amino-3-(4-hydroxyphenyl)propanal owl:Class CHEBI:50994 biolink:NamedThing primary amino compound A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. tmpak2llvmy_mondo_relaxed.owl primary amino compounds owl:Class MONDO:0001078 biolink:NamedThing tropical sprue A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. tmpak2llvmy_mondo_relaxed.owl sprue - tropical|post-infective tropical malabsorption|tropical enteropathy|idiopathic tropical malabsorption syndrome|tropical steatorrhea ICD10:K90.1|MESH:D013182|GARD:0007824|NCIT:C45428|SCTID:47384003|DOID:10607|UMLS:C0038054|ICD9:579.1 https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue owl:Class MONDO:0020598 biolink:NamedThing malabsorption syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. tmpak2llvmy_mondo_relaxed.owl malabsorption|malabsorption syndrome NCIT:C3214|SCTID:32230006|MESH:D008286|UMLS:C0024523 owl:Class UBERON:0010090 biolink:NamedThing future falx cerebri A developing anatomical structure that has the potential to develop into a falx cerebri. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001000 biolink:NamedThing mixed mineral dust pneumoconiosis Pneumoconiosis caused by the inhalation of mixed mineral dust particles. tmpak2llvmy_mondo_relaxed.owl mixed mineral dust pneumoconiosis|mineral duct pneumoconiosis|mineral dust pneumoconiosis|pneumoconiosis from mineral dust NCIT:C27559|SCTID:233759002|DOID:10319|UMLS:C0340184|ICD9:503 owl:Class MONDO:0015926 biolink:NamedThing pneumoconiosis An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. tmpak2llvmy_mondo_relaxed.owl coal worker's pneumoconiosis|Black lung disease ICD9:505|MedDRA:10035653|ICD10:J64|NCIT:C26861|GARD:0008356|DOID:10316|UMLS:C0032273|Orphanet:182098|SCTID:40122008|MESH:D011009 owl:Class MONDO:0003549 biolink:NamedThing adenosquamous bile duct carcinoma An adenosquamous carcinoma that arises from the bile ducts. tmpak2llvmy_mondo_relaxed.owl adenosquamous carcinoma of the bile duct|adenosquamous carcinoma of bile duct|adenosquamous bile duct carcinoma|bile duct adenosquamous carcinoma DOID:5624|UMLS:C0861854 owl:Class MONDO:0056815 biolink:NamedThing liver adenosquamous carcinoma A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. tmpak2llvmy_mondo_relaxed.owl liver adenosquamous cancer|liver adenosquamous carcinoma NCIT:C118630|UMLS:C3898586 owl:Class UBERON:0005725 biolink:NamedThing olfactory system A sensory system that is capable of olfacttion (the sensory perception of smell). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005726 biolink:NamedThing chemosensory system tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006781 biolink:NamedThing Helicobacter pylori infectious disease Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. tmpak2llvmy_mondo_relaxed.owl infection, Helicobacter|Helicobacter pylori caused disease or disorder|Helicobacter pylori infection, susceptibility to|infections, Helicobacter|Helicobacter infection|Helicobacter pylori disease or disorder MESH:D016481|EFO:1000961 owl:Class CL:1000391 biolink:NamedThing melanocyte of eyelid A melanocyte that is part of the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid melanocyte|sebaceous gland of wolff FMA:59175 cell owl:Class CL:0000148 biolink:NamedThing melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. tmpak2llvmy_mondo_relaxed.owl melanophore CALOHA:TS-0613|VHOG:0001679|BTO:0000847|FMA:70545 CL:0000572 cell owl:Class MONDO:0044791 biolink:NamedThing combined hepatocellular carcinoma and cholangiocarcinoma A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. tmpak2llvmy_mondo_relaxed.owl Cholangiohepatoma|carcinoma of liver and intrahepatic biliary tract|combined hepatocellular carcinoma and cholangiocarcinoma|Mixed hepatocellular cholangiocarcinoma|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|Hepatocholangiocarcinoma|carcinoma of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract carcinoma NCIT:C3828|SCTID:274902006|Orphanet:529852 owl:Class MONDO:0018536 biolink:NamedThing adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract|adenocarcinoma of the gallbladder and EBT ICD10:C24.1|UMLS:CN237537|ICD10:C24.8|ICD10:C23|Orphanet:424991|SCTID:765741003|ICD10:C28.9|ICD10:C24.0 owl:Class MONDO:0045070 biolink:NamedThing digestive system melanoma A melanoma that arises from any part of the digestive system. tmpak2llvmy_mondo_relaxed.owl digestive system melanoma|gastrointestinal melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease) NCIT:C7091|GARD:0010409|UMLS:C1333798 owl:Class MONDO:0010093 biolink:NamedThing syndesmodysplasic dwarfism tmpak2llvmy_mondo_relaxed.owl syndesmodysplasic dwarfism MESH:C537869|Orphanet:2654|UMLS:C2931647|OMIM:272450 owl:Class MONDO:0005714 biolink:NamedThing congenital syphilis A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. tmpak2llvmy_mondo_relaxed.owl mother-to-child transmission of syphilis|congenital syphilis|MTCT of syphilis MESH:D013590|SCTID:35742006|Orphanet:499009|ICD9:090.9|DOID:9856|ICD10:A50.9|NCIT:C84649|EFO:0007219|ICD9:090|UMLS:C0039131|ICD10:A50 owl:Class MONDO:0008125 biolink:NamedThing nonsyndromic congenital nail disorder 5 tmpak2llvmy_mondo_relaxed.owl NDNC5|nonsyndromic congenital nail disorder type 5|nail disorder, nonsyndromic congenital, 5|onycholysis, hereditary distal|onycholysis, partial, with scleronychia MESH:C563503|OMIM:164800|UMLS:C1833909|DOID:0080083 owl:Class MONDO:0019284 biolink:NamedThing inherited isolated nail anomaly A nail anomaly that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated nail anomaly|nail disorder, nonsyndromic congenital|nonsyndromic nail anomaly Orphanet:79369|OMIMPS:161050 owl:Class GO:0042135 biolink:NamedThing neurotransmitter catabolic process The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpak2llvmy_mondo_relaxed.owl neurotransmitter breakdown|neurotransmitter catabolism|neurotransmitter degradation owl:Class GO:0042133 biolink:NamedThing neurotransmitter metabolic process The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpak2llvmy_mondo_relaxed.owl neurotransmitter metabolism owl:Class HGNC:3467 biolink:NamedThing ESR1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000434 biolink:NamedThing epithelial cell of external acoustic meatus An epithelial cell that is part of the external acoustic meatus. tmpak2llvmy_mondo_relaxed.owl FMA:70555 cell owl:Class NCBITaxon:140564 biolink:NamedThing Ornithodoros parkeri tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6937 biolink:NamedThing Ornithodoros tmpak2llvmy_mondo_relaxed.owl Alectorobius|relapsing fever ticks GC_ID:1 NCBITaxon:352063 ncbi_taxonomy owl:Class GO:0045542 biolink:NamedThing positive regulation of cholesterol biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpak2llvmy_mondo_relaxed.owl positive regulation of cholesterol synthesis|positive regulation of cholesterol anabolism|upregulation of cholesterol biosynthetic process|positive regulation of cholesterol formation|up regulation of cholesterol biosynthetic process|up-regulation of cholesterol biosynthetic process|stimulation of cholesterol biosynthetic process|activation of cholesterol biosynthetic process|positive regulation of cholesterol biosynthesis owl:Class GO:1902932 biolink:NamedThing positive regulation of alcohol biosynthetic process Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl upregulation of alcohol formation|up regulation of alcohol synthesis|up regulation of alcohol anabolism|upregulation of alcohol synthesis|positive regulation of solventogenesis|up regulation of alcohol biosynthetic process|positive regulation of alcohol anabolism|upregulation of alcohol anabolism|activation of alcohol anabolism|upregulation of alcohol biosynthesis|up-regulation of alcohol anabolism|up regulation of alcohol formation|activation of alcohol formation|activation of alcohol synthesis|upregulation of alcohol biosynthetic process|positive regulation of alcohol synthesis|activation of alcohol biosynthesis|up-regulation of alcohol synthesis|positive regulation of alcohol biosynthesis|positive regulation of alcohol formation|up-regulation of alcohol formation|up-regulation of alcohol biosynthesis|up regulation of alcohol biosynthesis|up-regulation of alcohol biosynthetic process|activation of alcohol biosynthetic process owl:Class UBERON:0006715 biolink:NamedThing radio-ulna Paired, long bones of endochondral origin formed by the fusion of the radius and ulna. tmpak2llvmy_mondo_relaxed.owl radius+ulna|radioulna|radius-ulna owl:Class UBERON:0003466 biolink:NamedThing forelimb zeugopod bone A bone that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arm zeugopod bone|lower arm bone|antebrachial region bone organ|zeugopod bone, upper|arm zeugopod bone organ|antebrachial region bone|zeugopod bone, forelimb|wing zeugopod bone owl:Class MONDO:0015070 biolink:NamedThing laryngeal neuroendocrine neoplasm A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl neuroendocrine tumor of larynx|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|larynx NET|laryngeal neuroendocrine neoplasm|neuroendocrine neoplasm of larynx|larynx neuroendocrine tumor|laryngeal neuroendocrine tumor|neuroendocrine neoplasm of the larynx|larynx neuroendocrine neoplasm SCTID:707625001|Orphanet:100083|DOID:5457|UMLS:C1334374|NCIT:C6023 owl:Class MONDO:0018945 biolink:NamedThing McLeod neuroacanthocytosis syndrome A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. tmpak2llvmy_mondo_relaxed.owl MCLDS|McLeod syndrome|McLeod syndrome with chronic granulomatous disease|McLeod phenotype|X-linked McLeod syndrome|neuroacanthocytosis, McLeod type|MLS MESH:C564038|ICD10:G10|SCTID:234411007|OMIM:300842|GARD:0010731|ICD9:289.89|Orphanet:59306|HGNC:12811 https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome owl:Class MONDO:0016987 biolink:NamedThing neuroacanthocytosis Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. tmpak2llvmy_mondo_relaxed.owl neuroacanthocytosis syndrome GARD:0010902|NCIT:C84926|Orphanet:263440|DOID:0050765 owl:Class MONDO:0018017 biolink:NamedThing goblet cell carcinoma Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl goblet cell adenocarcinoid|goblet cell carcinoid|goblet cell carcinoma|goblet cell tumor|mucinous carcinoid|carcinoma of goblet cell|GCC GARD:0010414|Orphanet:329984|ICD10:C18.1 owl:Class MONDO:0013584 biolink:NamedThing hereditary sensory neuropathy-deafness-dementia syndrome A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. tmpak2llvmy_mondo_relaxed.owl hereditary sensory neuropathy type IE|HSN 1E|hereditary sensory neuropathy type 1E|hereditary sensory neuropathy with hearing loss and dementia|neuropathy, hereditary sensory, type 1E|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|neuropathy, hereditary sensory, type IE|DNMT1-related dementia, deafness, and sensory neuropathy|HSAN1E|hereditary sensory and autonomic neuropathy type 1E|neuropathy, hereditary sensory, with hearing loss and dementia|HSNIE|HSN1E UMLS:C3279885|GARD:11927|GARD:0011927|Orphanet:456318|ICD10:G60.8|OMIM:614116|DOID:0070158|MESH:C580162 owl:Class MONDO:0015093 biolink:NamedThing sub-cortical nodular heterotopia tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.8|Orphanet:101029 owl:Class MONDO:0016292 biolink:NamedThing nodular neuronal heterotopia tmpak2llvmy_mondo_relaxed.owl hereditary nodular heterotopia|genetic nodular heterotopia|nodular heterotopia GARD:0002661|ICD10:Q04.8|SCTID:253151003|Orphanet:2149 https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia owl:Class MONDO:0012332 biolink:NamedThing short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. tmpak2llvmy_mondo_relaxed.owl thyroid hormone metabolism, abnormal OMIM:609698|UMLS:C1864761|MESH:C566454|Orphanet:171706|ICD10:E03.1 owl:Class MONDO:0016412 biolink:NamedThing peripheral hypothyroidism Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism. tmpak2llvmy_mondo_relaxed.owl Orphanet:226310 owl:Class HP:0011849 biolink:NamedThing Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpak2llvmy_mondo_relaxed.owl Abnormal bone maturation MP:0008271|UMLS:C4023161|UMLS:C4280317 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. peter 2012-05-15T07:39:58Z human_phenotype owl:Class HP:0003330 biolink:NamedThing Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025630 human_phenotype owl:Class CL:1000317 biolink:NamedThing intestinal villus goblet cell A goblet cell that is part of the epithelium of intestinal villus. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of intestinal villus FMA:263046 cell owl:Class CL:1000495 biolink:NamedThing small intestine goblet cell A goblet cell that is part of the small intestine. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of small intestine|goblet cell of small intestine|small intestinal goblet cell FMA:86929 cell owl:Class MONDO:0003182 biolink:NamedThing anterior horn disease Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. tmpak2llvmy_mondo_relaxed.owl disease of ventral horn of spinal cord|ventral horn of spinal cord disease|ventral horn of spinal cord disease or disorder|disease or disorder of ventral horn of spinal cord|disorder of ventral horn of spinal cord ICD9:335.9|ICD9:335|DOID:4873 TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND owl:Class MONDO:0009920 biolink:NamedThing Acrootoocular syndrome Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. tmpak2llvmy_mondo_relaxed.owl acrootoocular syndrome|Aoo syndrome|pseudopapilledema-blepharophimosis-hand anomalies syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies MESH:C564866|UMLS:C1849661|OMIM:264475|Orphanet:2980|ICD10:Q87.0|SCTID:720410001 owl:Class MONDO:0015218 biolink:NamedThing syndromic developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic developmental defect of the eye|syndrome associated with developmental defect of the eye 2022-03-01 UMLS:CN226635|Orphanet:108987 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: eye disease' MONDO_0005328 owl:Class HP:0001929 biolink:NamedThing Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. tmpak2llvmy_mondo_relaxed.owl Low factor XI activity|Factor XI deficiency SNOMEDCT_US:49762007|UMLS:C0015523|MSH:D005173 human_phenotype owl:Class HP:0010989 biolink:NamedThing Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023610 The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. peter 2011-02-08T04:26:55Z human_phenotype owl:Class HGNC:3512 biolink:NamedThing EXT1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060341 biolink:NamedThing regulation of cellular localization Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. tmpak2llvmy_mondo_relaxed.owl regulation of cellular localisation owl:Class UBERON:0006723 biolink:NamedThing cochlear modiolus the central cone shaped core of spongy bone about which turns the spiral canal tmpak2llvmy_mondo_relaxed.owl modiolus of cochlea|modiolus cochleae|columella cochleae|modiolus|cochlea modiolus owl:Class UBERON:0005913 biolink:NamedThing zone of bone organ tmpak2llvmy_mondo_relaxed.owl bone organ zone owl:Class HGNC:8896 biolink:NamedThing PGK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009775 biolink:NamedThing Oguchi disease-1 Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. tmpak2llvmy_mondo_relaxed.owl Oguchi disease type 1|CSNBO1|SAG Oguchi disease|congenital stationary night blindness Oguchi type 1|Oguchi disease caused by mutation in SAG|Oguchi disease 1|night blindness, congenital stationary, Oguchi type 1 OMIM:258100|DOID:0110712 owl:Class MONDO:0019152 biolink:NamedThing Oguchi disease Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. tmpak2llvmy_mondo_relaxed.owl Oguchi syndrome|Oguchi disease|stationary night blindness, Oguchi type|congenital stationary night blindness, Oguchi type Orphanet:75382|ICD10:H53.6|MESH:C537743|GARD:0010118 https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease owl:Class MONDO:0023076 biolink:NamedThing eosinophilic pustular folliculitis Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition. tmpak2llvmy_mondo_relaxed.owl eosinophilic folliculitis|eosinophilic folliculitis, pustular|EPF|Ofuji disease|Ofuji's disease ICD9:704.8|MESH:C535953|SCTID:95333004|GARD:0008534|UMLS:C0406305 https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis owl:Class MONDO:0006552 biolink:NamedThing folliculitis Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. tmpak2llvmy_mondo_relaxed.owl dermatitis of hair follicle|hair follicle dermatitis NCIT:C94408|MESH:D005499|EFO:1000702|DOID:4409|Wikipedia:Folliculitis|SCTID:13600006|ICD9:704.8 owl:Class UBERON:0003074 biolink:NamedThing mesonephric duct Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. tmpak2llvmy_mondo_relaxed.owl Leydig's duct|archinephric duct|renal duct|Wolffian duct|ductus mesonephricus; ductus Wolffi owl:Class UBERON:0000083 biolink:NamedThing mesonephric tubule A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. tmpak2llvmy_mondo_relaxed.owl renal tubules|tubuli mesonephrici owl:Class MONDO:0010803 biolink:NamedThing Eiken syndrome Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. tmpak2llvmy_mondo_relaxed.owl Eiken syndrome|Eiken skeletal dysplasia|bone modeling defect of hands and feet DOID:0111732|Orphanet:79106|UMLS:C1838779|MESH:C564010|OMIM:600002|SCTID:720863002 owl:Class MONDO:0010627 biolink:NamedThing X-linked lymphoproliferative syndrome X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). tmpak2llvmy_mondo_relaxed.owl Duncan disease|X-linked lymphoproliferative syndrome type 1|XLP1|Purtilo syndrome|X-linked lymphoproliferative syndrome 1|lymphoproliferative syndrome, X-linked, 1|lymphoproliferative syndrome, X-linked, type 1|X-linked lymphoproliferative syndrome|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease|lymphoproliferative syndrome, X-linked|lymphoproliferative syndrome X-linked 1|XLP ICD10:D82.3|SCTID:77121009|GARD:0007906|MedDRA:10068348|UMLS:C0549463|NCIT:C61246|DOID:0060705|ICD9:238.79|Orphanet:2442 Editor note: two OMIMPS https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 owl:Class MONDO:0044794 biolink:NamedThing benign melanocytic skin nevus A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. tmpak2llvmy_mondo_relaxed.owl benign melanocytic nevus of skin|benign melanocytic nevus of the skin|benign nevus of skin|benign melanocytic nevus|benign melanocytic skin nevus|benign nevus of the skin|benign mole|benign skin nevus UMLS:C1456781|NCIT:C7571 Editor note: TODO logical def owl:Class MONDO:0011744 biolink:NamedThing primary intraosseous venous malformation Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. tmpak2llvmy_mondo_relaxed.owl vascular malformation osseous|hemangioma, intraosseous|osseous venous malformation|vascular malformation, primary intraosseous|intraosseous hemangioma ICD10:D18.0|OMIM:606893|UMLS:C1847197|MESH:C564648|Orphanet:140436|SCTID:764100007 owl:Class MONDO:0016223 biolink:NamedThing infantile hemangioma of rare localization tmpak2llvmy_mondo_relaxed.owl Orphanet:210589|SCTID:703270004|UMLS:C3839613|UMLS:CN226884 Editor note: consider alternate naming owl:Class GO:0006706 biolink:NamedThing steroid catabolic process The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl steroid degradation|steroid catabolism|steroid breakdown owl:Class GO:0016042 biolink:NamedThing lipid catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpak2llvmy_mondo_relaxed.owl lipid catabolism|lipid breakdown|lipolysis|multicellular organismal lipid catabolic process|lipid degradation|multicellular organism lipid catabolic process owl:Class MONDO:0005508 biolink:NamedThing hereditary multiple osteochondromas Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. tmpak2llvmy_mondo_relaxed.owl multiple ostechondromas|multiple exostoses|osteochondromatosis syndrome (disorder) [ambiguous]|hereditary multiple exostoses|hereditary multiple exostosis|EXT|osteochondromatosis syndrome|multiple exostosis syndromes|exostoses, multiple|multiple cartilaginous exostoses|hereditary multiple exostoses 3|multiple congenital exostosis|HMO|hereditary multiple exostoses 1|hereditary multiple exostoses 2|Bessel-Hagen disease DOID:206|SCTID:716742001|SCTID:254044004|NCIT:C5183|UMLS:CN204014|Orphanet:321|EFO:0005560|MESH:D005097|GARD:0007035|ICD10:Q78.6 https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas owl:Class MONDO:0015356 biolink:NamedThing hereditary neoplastic syndrome The inherited predisposition toward getting a tumor. tmpak2llvmy_mondo_relaxed.owl inherited cancer syndrome|cancer syndromes, hereditary|syndrome, hereditary neoplastic|syndromes, hereditary neoplastic|hereditary cancer syndromes|hereditary tumor syndrome|syndromes, hereditary cancer|neoplastic syndrome, hereditary|inherited cancer-predisposing syndrome|hereditary neoplastic syndrome|cancer syndrome, hereditary|familial tumor syndrome|syndrome, hereditary cancer|hereditary neoplastic syndromes|hereditary cancer syndrome|familial neoplastic syndrome SCTID:699346009|NCIT:C3266|UMLS:C0027672|Orphanet:140162|MESH:D009386|UMLS:CN882908|UMLS:CN199448 owl:Class HP:0001933 biolink:NamedThing Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). tmpak2llvmy_mondo_relaxed.owl Bleeding below the skin|Subcutaneous haemorrhage UMLS:C0854107 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. peter 2008-02-28T07:14:00Z human_phenotype owl:Class HP:0001892 biolink:NamedThing Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. tmpak2llvmy_mondo_relaxed.owl Hemorrhagic diathesis|Bleeding tendency|Bleeding diathesis SNOMEDCT_US:248250000|UMLS:C1458140|SNOMEDCT_US:64779008 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. HP:0004862|HP:0004834|HP:0004830|HP:0008183|HP:0004849|HP:0004865 human_phenotype owl:Class GO:0009247 biolink:NamedThing glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). tmpak2llvmy_mondo_relaxed.owl glycolipid biosynthesis|glycolipid anabolism|glycolipid synthesis|glycolipid formation owl:Class MONDO:0010064 biolink:NamedThing spastic ataxia-corneal dystrophy syndrome Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. tmpak2llvmy_mondo_relaxed.owl spastic ataxia-ocular anomalies syndrome|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Mousa-Al Din-Al Nassar syndrome|spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|Bedouin spastic ataxia syndrome|Mousa Al din Al Nassar syndrome GARD:0003795|MESH:C536989|OMIM:271320|SCTID:715465001|Orphanet:2572|UMLS:C1849085|ICD10:G11.8 owl:Class MONDO:0021505 biolink:NamedThing benign neoplasm of endocardium A benign neoplasm that involves the endocardium. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the endocardium|benign endocardial neoplasm|benign endocardial tumor|endocardium benign neoplasm|benign tumor of the endocardium|benign tumor of endocardium SCTID:92083007|NCIT:C4608|UMLS:C0347254 owl:Class HGNC:2888 biolink:NamedThing DISC1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:4000030 biolink:NamedThing exposure to decreased soil temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in temperature of soil owl:Class MONDO:0017561 biolink:NamedThing congenital genu flexum tmpak2llvmy_mondo_relaxed.owl Orphanet:295232|ICD10:Q68.2 owl:Class MONDO:0017470 biolink:NamedThing congenital knee dislocation tmpak2llvmy_mondo_relaxed.owl congenital knee dislocation (disease)|congenital knee dislocation congenital knee dislocation (disease) Orphanet:295034|ICD10:Q68.2|ICD9:754.41|SCTID:59068006|MedDRA:10010520|HP:0005191 owl:Class GO:0008652 biolink:NamedThing cellular amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. tmpak2llvmy_mondo_relaxed.owl cellular amino acid formation|cellular amino acid synthesis|amino acid biosynthetic process|cellular amino acid anabolism|cellular amino acid biosynthesis owl:Class NCBITaxon:33743 biolink:NamedThing Kyasanur Forest disease virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11051 biolink:NamedThing Flavivirus tmpak2llvmy_mondo_relaxed.owl arboviruses group B GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41197 biolink:NamedThing Heteroneura tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:37583 ncbi_taxonomy owl:Class NCBITaxon:41196 biolink:NamedThing Neolepidoptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015434 biolink:NamedThing ring chromosome 18 Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. tmpak2llvmy_mondo_relaxed.owl Ring 18|chromosome 18 ring|Ring chromosome type 18|R18|Ring chromosome 18 syndrome ICD10:Q93.2|UMLS:C0265475|SCTID:88154004|EFO:0001226|Orphanet:1442|GARD:0006077|MESH:C538304 https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 owl:Class MONDO:0019915 biolink:NamedThing maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). tmpak2llvmy_mondo_relaxed.owl UPD(14)mat|maternal uniparental disomy of chromosome type 14 ICD10:Q99.8|Orphanet:96184 owl:Class MONDO:0014541 biolink:NamedThing motor developmental delay due to 14q32.2 paternally expressed gene defect A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. tmpak2llvmy_mondo_relaxed.owl maternal uniparental disomy chromosome 14 syndrome|uniparental disomy, maternal, chromosome 14|TEMPLE syndrome|mUPD14 syndrome DOID:0111713|Orphanet:254516|OMIM:616222|UMLS:C4015558|NCIT:C120409 owl:Class UBERON:0008266 biolink:NamedThing periodontal ligament The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO]. tmpak2llvmy_mondo_relaxed.owl periodontal fiber|peridontal fibre|peridontal ligament fibre|paradentium|periodontal fibre|alveolodental ligament|peridontal membrane|peridontal fiber|peridontal ligament fiber|periodontium|odontoperiosteum|alveolodental membrane|peridontium|fibra periodontalis|alveolar periosteum|peridental membrane|peridontal ligament|PDL|desmodontium owl:Class GO:0004857 biolink:NamedThing enzyme inhibitor activity Binds to and stops, prevents or reduces the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl metalloenzyme inhibitor activity owl:Class GO:0030234 biolink:NamedThing enzyme regulator activity Binds to and modulates the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl enzyme modulator|catalytic regulator activity|metalloenzyme regulator activity owl:Class UBERON:0005777 biolink:NamedThing glomerular basement membrane the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter tmpak2llvmy_mondo_relaxed.owl glomerular capillary basement membrane|glomerular filtration membrane|GBM owl:Class UBERON:0005769 biolink:NamedThing basement membrane of epithelium An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. tmpak2llvmy_mondo_relaxed.owl basement membrane|basement membrane of connective tissue|membrana basalis owl:Class MONDO:0020456 biolink:NamedThing pleuro-pericardial cyst Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. tmpak2llvmy_mondo_relaxed.owl Orphanet:99131|ICD10:Q24.8 owl:Class MONDO:0017300 biolink:NamedThing congenital pericardium anomaly Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst). tmpak2llvmy_mondo_relaxed.owl ICD9:746.89|SCTID:93018000|ICD10:Q24.8|Orphanet:2846 owl:Class MONDO:0008369 biolink:NamedThing proximal renal tubular acidosis Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. tmpak2llvmy_mondo_relaxed.owl pRTA|RTA, rate type|renal tubular acidosis type 2|RTA, proximal type|Type 2 RTA|Type 2 renal tubular acidosis|renal tubular acidosis 2|renal tubular acidosis, proximal Orphanet:47159|ICD10:N25.8|OMIM:179830|ICD9:588.89|MedDRA:10037080|SCTID:24790002 owl:Class CHEBI:15734 biolink:NamedThing primary alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpak2llvmy_mondo_relaxed.owl a primary alcohol|1-Alcohol|primary alcohols|Primary alcohol owl:Class CHEBI:30879 biolink:NamedThing alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. tmpak2llvmy_mondo_relaxed.owl an alcohol|Alcohol|alcohols owl:Class MONDO:0021285 biolink:NamedThing carcinoma in situ of urethra A in situ carcinoma that involves the urethra. tmpak2llvmy_mondo_relaxed.owl urethra carcinoma in situ|carcinoma in situ of urethra|stage 0is urethral cancer aJCC v7|urethra in situ carcinoma|stage 0is urethral carcinoma|stage 0is carcinoma of the urethra|stage 0is urethra carcinoma|stage 0 urethra carcinoma|stage 0is urethral cancer|stage 0is carcinoma of urethra|carcinoma in situ of the urethra|urethral carcinoma in situ ICD9:233.9|SCTID:92784007|UMLS:C0346280|NCIT:C4531 owl:Class MONDO:0004647 biolink:NamedThing in situ carcinoma A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. tmpak2llvmy_mondo_relaxed.owl intraepithelial carcinoma|epithelial tumor, in situ, malignant|stage 0 disease|carcinoma, in situ, malignant|CIS|non-invasive carcinoma|carcinoma in situ NCIT:C2917|ICD10:D09.9|ICD9:234.9|MESH:D002278|ICD9:230-234.99|SCTID:109355002|ICD9:234.8|UMLS:C0007099|ICDO:8010/2|DOID:8719 Editor note: check pre-malignant vs malignant owl:Class MONDO:0012352 biolink:NamedThing vasculitis, lymphocytic, cutaneous small vessel tmpak2llvmy_mondo_relaxed.owl vasculitis, lymphocytic, cutaneous small vessel UMLS:C1853293|OMIM:609817|MESH:C565222 owl:Class MONDO:0006607 biolink:NamedThing sebaceous gland disease A disease involving the sebaceous gland. tmpak2llvmy_mondo_relaxed.owl disease of sebaceous gland|sebaceous gland disease|disorder of sebaceous gland|sebaceous gland disease or disorder|disease or disorder of sebaceous gland|disease of sebaceous glands EFO:1000763|SCTID:3441005|DOID:9098|ICD10:L70.8|ICD9:706.1|UMLS:C0036502|MESH:D012625 owl:Class MONDO:0005093 biolink:NamedThing skin disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. tmpak2llvmy_mondo_relaxed.owl skin and subcutaneous tissue disease|disease or disorder of zone of skin|skin disorder|skin diseases and manifestations|disease of zone of skin|zone of skin disease|cutaneous disorder|disorder of zone of skin|disorder of skin|zone of skin disease or disorder|genodermatosis|dermatosis DOID:37|MESH:D012871|ICD9:702.8|ICD9:709.8|EFO:0000701|NCIT:C3371|ICD9:702|SCTID:95320005 owl:Class HGNC:11740 biolink:NamedThing TF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033821 biolink:NamedThing fungal keratitis tmpak2llvmy_mondo_relaxed.owl Orphanet:519930 owl:Class MONDO:0005005 biolink:NamedThing clear cell renal carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. tmpak2llvmy_mondo_relaxed.owl clear cell carcinoma of the kidney|clear cell carcinoma of kidney|renal clear cell carcinoma|Grawitz tumor|clear cell renal cell carcinoma|clear cell adenocarcinoma, kidney|clear cell adenocarcinoma of kidney|conventional renal cell carcinoma|clear-cell metastatic renal cell carcinoma|kidney clear cell adenocarcinoma|renal clear cell adenocarcinoma|kidney clear cell carcinoma|clear cell kidney carcinoma|hypernephroma|conventional (clear cell) renal cell adenocarcinoma|RCC, clear cell adenocarcinoma|renal cell carcinoma, clear cell adenocarcinoma|clear cell adenocarcinoma of the kidney|clear cell renal cell cancer|conventional (clear cell) renal cell carcinoma ICD9:189.0|ONCOTREE:CCRCC|GARD:0009574|SCTID:254915003|DOID:4467|NCIT:C4033|EFO:0000349 owl:Class MONDO:0005549 biolink:NamedThing renal cell adenocarcinoma A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. tmpak2llvmy_mondo_relaxed.owl carcinoma, renal cell, malignant|kidney adenocarcinoma|RCC|renal cell carcinoma|renal cell adenocarcinoma|adenocarcinoma of kidney|renal cell carcinoma, stage unspecified|adenocarcinoma of the kidney|renal cell cancer ICDO:8312/3|EFO:0005708|ICDO:8311/1|NCIT:C9385 Editor note: check relationship to RCC owl:Class HP:0007360 biolink:NamedThing Aplasia/Hypoplasia of the cerebellum tmpak2llvmy_mondo_relaxed.owl Atrophy/Hypoplasia of the cerebellum|Atrophy/Degeneration affecting the cerebellum|Cerebellar hypoplasia/atrophy|Absent/underdeveloped cerebellum|Absent/small cerebellum UMLS:C3279222 peter 2008-03-31T05:30:00Z HP:0007368|HP:0006857 human_phenotype owl:Class HP:0001317 biolink:NamedThing Abnormal cerebellum morphology Any structural abnormality of the cerebellum. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar signs|Cerebellar abnormality|Cerebellar anomaly UMLS:C1866129|UMLS:C0742038 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. human_phenotype owl:Class MONDO:0005318 biolink:NamedThing canker sore A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology. tmpak2llvmy_mondo_relaxed.owl aphthous stomatitis|canker sore|aphthous ulcer EFO:0003938|HP:0032154|NCIT:C62546|SCTID:427617000|MESH:D013281 owl:Class CHEBI:35480 biolink:NamedThing analgesic An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:23888 biolink:NamedThing drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. tmpak2llvmy_mondo_relaxed.owl medicine|drugs owl:Class CHEBI:24129 biolink:NamedThing furans Compounds containing at least one furan ring. tmpak2llvmy_mondo_relaxed.owl oxacyclopenta-2,4-dienes owl:Class CHEBI:25693 biolink:NamedThing organic heteromonocyclic compound tmpak2llvmy_mondo_relaxed.owl organic heteromonocyclic compounds owl:Class MONDO:0006493 biolink:NamedThing Warthin tumor An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland. tmpak2llvmy_mondo_relaxed.owl papillary cystadenoma lymphomatosum|Warthin's tumor|adenolymphoma|papillary cystadenoma lymphomatosum (formerly)|Warthin tumor GARD:0008569|UMLS:C0001429|SCTID:422470007|NCIT:C2854|EFO:1000625|ICDO:8561/0|MESH:D000235 https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor owl:Class MONDO:0021460 biolink:NamedThing benign neoplasm of salivary gland A benign neoplasm that involves the saliva-secreting gland. tmpak2llvmy_mondo_relaxed.owl saliva-secreting gland benign neoplasm|benign tumor of salivary gland|benign tumor of the salivary gland|salivary gland neoplasm, benign|benign neoplasm of the salivary gland|benign salivary gland tumor|benign salivary gland neoplasm SCTID:255154009|NCIT:C4600|UMLS:C0347206 owl:Class UBERON:0009126 biolink:NamedThing nodosal placode Caudalmost epibranchial placode. Associated with 3rd branchial cleft. tmpak2llvmy_mondo_relaxed.owl vagal epibranchial placodes|epibranchial placode 3|vagal placode|nodose placode|vagal X placode|nodose placodes|vagal epibranchial placode owl:Class UBERON:0003078 biolink:NamedThing epibranchial placode Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. tmpak2llvmy_mondo_relaxed.owl ventrolateral placode|epibranchial placodes owl:Class MONDO:0014608 biolink:NamedThing mandibulofacial dysostosis with alopecia A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis with alopecia|MFDA UMLS:C4225349|OMIM:616367|Orphanet:443995|ICD10:Q75.4|DOID:0060365 owl:Class MONDO:8000012 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 tmpak2llvmy_mondo_relaxed.owl IMNEPD|neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset OMIM:616263|UMLS:C4015728|Orphanet:456312 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024189 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset tmpak2llvmy_mondo_relaxed.owl OMIMPS:616263 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:15516 biolink:NamedThing XYLT1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001804 biolink:NamedThing negative regulation of type III hypersensitivity Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl inhibition of type III hypersensitivity|down regulation of type III hypersensitivity|down-regulation of type III hypersensitivity|downregulation of type III hypersensitivity owl:Class HsapDv:0000090 biolink:NamedThing 25-44 year-old human stage Early adulthood that refers to an adult who is over 25 and under 45. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001068 biolink:NamedThing osteomalacia A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 tmpak2llvmy_mondo_relaxed.owl osteomalacia (disease)|osteomalacia osteomalacia (disease) EFO:1002027|DOID:10573|ICD9:268.2|HP:0002749|MESH:D010018|SCTID:4598005|GARD:0007285|NCIT:C26838 owl:Class MONDO:0000833 biolink:NamedThing bone remodeling disease A bone disease that results in formation or resorption abnormalities located in bone. tmpak2llvmy_mondo_relaxed.owl DOID:0080005 owl:Class CHEBI:37581 biolink:NamedThing gamma-lactone A lactone having a five-membered lactone ring. tmpak2llvmy_mondo_relaxed.owl gamma-lactona|a 1,4-lactone|1,4-Lactone|gamma-lactones|gamma-lactonas|gamma-Laktone|butyrolactones|1,4-lactones owl:Class CHEBI:25000 biolink:NamedThing lactone Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpak2llvmy_mondo_relaxed.owl lactones|Lakton|lactonas|Laktone|lactona|lactone|Lacton owl:Class MONDO:0004080 biolink:NamedThing glottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. tmpak2llvmy_mondo_relaxed.owl glottic epidermoid carcinoma|glottis squamous cell carcinoma|glottis epidermoid carcinoma|squamous cell carcinoma of the glottis|epidermoid carcinoma of the glottis|glottic squamous cell carcinoma|squamous cell carcinoma of glottis|epidermoid carcinoma of glottis NCIT:C8186|UMLS:C0280325|DOID:7031 owl:Class MONDO:0005595 biolink:NamedThing laryngeal squamous cell carcinoma A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx. tmpak2llvmy_mondo_relaxed.owl laryngeal squamous cell carcinoma|squamous cell carcinoma of larynx|epidermoid carcinoma of the larynx|larynx epidermoid carcinoma|epidermoid carcinoma of larynx|larynx squamous cell carcinoma|squamous cell carcinoma of the larynx|LXSC|laryngeal epidermoid carcinoma|laryngeal throat squamous cell cancer UMLS:C0280324|SCTID:405822008|EFO:0006352|Orphanet:494550|NCIT:C4044|ONCOTREE:LXSC|DOID:2876 owl:Class HP:0031093 biolink:NamedThing Abnormal breast morphology Any anomaly of the structure of the breast. tmpak2llvmy_mondo_relaxed.owl 2017-06-30 15:41:38+00:00 robinp human_phenotype owl:Class HP:0000769 biolink:NamedThing Abnormality of the breast An abnormality of the breast. tmpak2llvmy_mondo_relaxed.owl Abnormality of the breast UMLS:C4025829 human_phenotype owl:Class UBERON:0011252 biolink:NamedThing scent gland Scent glands are exocrine glands found in most mammals. They produce semi-viscous secretions which contain pheromones and other semiochemical compounds. These odor-messengers indicate information such as status, territory marking, mood, and sexual power. The odor may be subliminal-not consciously detectable. Though it is not their primary function, the salivary glands may also function as scent glands in some animals. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002365 biolink:NamedThing exocrine gland A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas tmpak2llvmy_mondo_relaxed.owl ducted gland|glandula exocrina owl:Class MONDO:0009895 biolink:NamedThing postaxial polydactyly-dental and vertebral anomalies syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, with dental and vertebral anomalies ICD10:Q87.2|Orphanet:2916|UMLS:C1849732|MESH:C564880|OMIM:263540 owl:Class MONDO:0011017 biolink:NamedThing Naxos disease Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. tmpak2llvmy_mondo_relaxed.owl keratosis palmoplantaris with arrhythmogenic cardiomyopathy|NXD|woolly hair palmoplantar keratoderma cardiac abnormalities|KWWH type I|Naxos disease|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|NAXOS disease|Mal De Naxos|keratosis palmoplantaris with arrythmogenic cardiomyopathy|keratoderma with woolly hair type I|palmoplantar keratoderma with arrythmogenic cardiomyopathy|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities MESH:C538346|DOID:0080551|GARD:0009795|Orphanet:34217|ICD10:Q87.8|OMIM:601214|SCTID:715535009|UMLS:C1832600 https://rarediseases.info.nih.gov/diseases/9795/naxos-disease owl:Class MONDO:0100080 biolink:NamedThing cardioectodermal syndrome Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. tmpak2llvmy_mondo_relaxed.owl cardio-ectodermal syndrome http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:68525 biolink:NamedThing delta/epsilon subdivisions tmpak2llvmy_mondo_relaxed.owl PMID:11837318|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1224 biolink:NamedThing Proteobacteria tmpak2llvmy_mondo_relaxed.owl purple photosynthetic bacteria|purple photosynthetic bacteria and relatives|purple bacteria and relatives|Alphaproteobacteriota|purple bacteria|purple non-sulfur bacteria|Alphaproteobacteraeota|proteobacteria PMID:16280474|GC_ID:11|PMID:11321122|PMID:29458499|PMID:11837318|PMID:11542017|PMID:26654112 ncbi_taxonomy owl:Class GO:0045824 biolink:NamedThing negative regulation of innate immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. tmpak2llvmy_mondo_relaxed.owl downregulation of innate immune response|down regulation of innate immune response|down-regulation of innate immune response|inhibition of innate immune response owl:Class GO:0045088 biolink:NamedThing regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006966 biolink:NamedThing secondary Parkinson disease A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. tmpak2llvmy_mondo_relaxed.owl symptomatic parkinsonism|secondary parkinsonism, unspecified|secondary parkinsonism (disorder) [ambiguous]|secondary Parkinsonism|disorder presenting primarily with parkinsonism ICD10:G21.9|SCTID:265377002|EFO:1001175|ICD9:332.1|DOID:13548|NCIT:C34899|MESH:D010302|UMLS:C0030569|ICD10:G21 owl:Class UBERON:0011191 biolink:NamedThing ophthalmic vein Ophthalmic veins are veins which drain the eye. More specifically, they can refer to: Superior ophthalmic vein Inferior ophthalmic vein tmpak2llvmy_mondo_relaxed.owl vena ophthalmica|opthalmic vein owl:Class UBERON:0006356 biolink:NamedThing epigastric vein A vein that drains the anterior abdominal wall. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012277 biolink:NamedThing myofibrillar myopathy 4 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. tmpak2llvmy_mondo_relaxed.owl myofibrillar myopathy type 4|late-onset distal myopathy, Markesbery-Griggs type|zaspopathy|myofibrillar myopathy (disease) caused by mutation in LDB3|myopathy, myofibrillar, type 4|MFM4|ZASP-related myofibrillar myopathy|LDB3 myofibrillar myopathy (disease)|myopathy, myofibrillar, 4 GARD:0001886|Orphanet:98912|UMLS:C1836155|MESH:C563718|OMIM:609452|ICD10:G71.8|DOID:0080095 owl:Class MONDO:0018943 biolink:NamedThing myofibrillar myopathy Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. tmpak2llvmy_mondo_relaxed.owl desmin related myopathy (former name)|myofibrillar myopathy|Desminopathy (type)|myotilinopathy (type)|Alpha Beta crystallinopathy (type)|myofibrillar myopathy (disease)|myofibrillar myopathies|filaminopathy (type)|Protein surplus myopathy (former name)|desmin storage myopathy (former name)|Zaspopathy (type) myofibrillar myopathy (disease) SCTID:699269005|ICD9:359.89|DOID:0080307|OMIMPS:601419|NCIT:C83009|ICD10:G71.8|UMLS:C2678065|GARD:0010529|HP:0003715|MESH:C580316|Orphanet:593 owl:Class HGNC:7173 biolink:NamedThing MMP3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10771 biolink:NamedThing SF3B4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014765 biolink:NamedThing crus of diaphragm The domain of the diaphragm that is located dorsally and attaches to the vertebrae and surrounds the esophagus and aorta. tmpak2llvmy_mondo_relaxed.owl diaphragmatic crura|diaphragm crura|crus of the diaphragm|crural diaphragm|crura of the diaphragm owl:Class UBERON:0000063 biolink:NamedThing organ subunit A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. tmpak2llvmy_mondo_relaxed.owl segment of organ|organ region with fixed fiat boundary|organ segment owl:Class FOODON:03411312 biolink:NamedThing wheat plant Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat: * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world. * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat. * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance. * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use. * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411017 biolink:NamedThing oil-producing plant tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000912 biolink:NamedThing mucus Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037742 biolink:NamedThing endometrioid stromal and related neoplasms A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal and related tumors|endometrioid stromal and related neoplasms NCIT:C8384|UMLS:C4287868 owl:Class MONDO:0005288 biolink:NamedThing intestinal polyp Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. tmpak2llvmy_mondo_relaxed.owl intestinal polyp|intestinal polyp (disease) intestinal polyp (disease) EFO:0003855|MESH:D007417|SCTID:254588001|HP:0005266|ICD9:569.89 owl:Class MONDO:0021057 biolink:NamedThing classic or attenuated familial adenomatous polyposis An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. tmpak2llvmy_mondo_relaxed.owl classic or attenuated familial adenomatous polyposis|classic or attenuated FAP owl:Class MONDO:0014357 biolink:NamedThing intellectual disability, autosomal dominant 24 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant 24|MRD24|DEAF1 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 24|autosomal dominant non-syndromic intellectual disability 24|mental retardation, autosomal dominant type 24|autosomal dominant mental retardation 24|mental retardation, autosomal dominant 24|intellectual disability, autosomal dominant type 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1 UMLS:C4014414|DOID:0070054|OMIM:615828 owl:Class UBERON:0006293 biolink:NamedThing spleen primordium A dense syncitial-like mesenchymal thickening in the dorsal mesogastrium[ISBN]. the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen[MP]. tmpak2llvmy_mondo_relaxed.owl splenic primordium|left spleen primordium|spleen mesenchyme|splenic mesenchyme owl:Class MONDO:0021309 biolink:NamedThing malignant neoplasm of endocervix A cancer that involves the endocervix. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the uterine endocervix|endocervix cancer|malignant tumor of the endocervix|malignant uterine endocervix neoplasm|malignant neoplasm of uterine endocervix|malignant endocervical neoplasm|malignant tumor of uterine endocervix|malignant uterine endocervix tumor|cancer of endocervix|malignant endocervix tumor|malignant neoplasm of the uterine endocervix|malignant endocervical tumor|malignant endocervix neoplasm|malignant tumor of endocervix|malignant neoplasm of the endocervix|malignant neoplasm of endocervix ICD10:C53.0|NCIT:C3553|SCTID:372097009|ICD9:180.0 owl:Class MONDO:0002974 biolink:NamedThing cervical cancer A primary or metastatic malignant neoplasm involving the cervix. tmpak2llvmy_mondo_relaxed.owl malignant cervical neoplasm|cervix cancer|malignant neoplasm of cervix|cervical neoplasm|malignant cervix uteri neoplasm|malignant tumor of the cervix|malignant tumor of uterine cervix|malignant cervical tumor|uterine cervical neoplasm|malignant neoplasm of the cervix|cervix uteri cancer|malignant neoplasm of cervix uteri|malignant neoplasm of the cervix uteri|uterine cervix cancer|malignant tumor of cervix uteri|malignant tumor of the cervix uteri|cancer of uterine cervix|malignant cervix tumor|malignant tumor of cervix|malignant neoplasm of the uterine cervix|tumor of the cervix uteri|malignant tumor of the uterine cervix|malignant uterine cervix neoplasm|malignant neoplasm of uterine cervix|malignant uterine cervix tumor|malignant cervix neoplasm|malignant cervix uteri tumor ICD9:180.9|DOID:4362|ICD10:C53.9|ICD10:C53|SCTID:363354003|OMIM:603956|NCIT:C9311|ICD9:180.8|ICD9:180 owl:Class MONDO:0020567 biolink:NamedThing apnea of prematurity Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. tmpak2llvmy_mondo_relaxed.owl NCIT:C98823|Orphanet:99981|ICD10:P28.4|SCTID:276544005 owl:Class MONDO:0019092 biolink:NamedThing infantile apnea Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. tmpak2llvmy_mondo_relaxed.owl apnea of infancy Orphanet:70590|SCTID:724229002|GARD:0006779|UMLS:C0745261|UMLS:CN205590 owl:Class MONDO:0015267 biolink:NamedThing Feingold syndrome Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. tmpak2llvmy_mondo_relaxed.owl microcephaly-digital anomalies-normal intelligence syndrome|ODED syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|Brunner-Winter syndrome|MODED syndrome|FS|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|MMT|oculo-digito-esophageal-duodenal syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|FGLDS|microcephaly-oculo-digito-esophageal-duodenal syndrome NCIT:C74987|Orphanet:1305|GARD:0008407|OMIMPS:164280|DOID:0060464|ICD10:Q87.8 owl:Class MONDO:0015208 biolink:NamedThing syndromic esophageal malformation A esophageal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic esophageal malformation|syndrome associated with esophageal malformation UMLS:CN226625|Orphanet:108961 owl:Class MONDO:0007187 biolink:NamedThing nevoid basal cell carcinoma syndrome A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. tmpak2llvmy_mondo_relaxed.owl Gorlin syndrome|multiple basal cell carcinomas|Gorlin-Goltz syndrome|basal cell nevus syndrome|nevoid basal cell cancer syndrome|nevoid basal cell carcinoma syndrome|NBCCS|BCNS|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies ICD10:Q87.8|Orphanet:377|UMLS:C0004779|MedDRA:10062804|SCTID:69408002|DOID:2512|OMIM:109400|GARD:0007166|MESH:D001478|NCIT:C2892 owl:Class MONDO:0001794 biolink:NamedThing Pthirus pubis infestation Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. tmpak2llvmy_mondo_relaxed.owl Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|crabs|phthiriasis pubis|Phthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs|infections, Pthirus pubis|pediculosis pubis|Phthirus pubis [pubic louse]|phthiriasis|infestation by Phthirus pubis|Pediculus pubis|Pthirus pubis infection DOID:13760|ICD9:132.2|NCIT:C35777|SCTID:71011005|ICD10:B85.3|UMLS:C0030759 owl:Class MONDO:0021201 biolink:NamedThing skin infection An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. tmpak2llvmy_mondo_relaxed.owl skin infection NCIT:C35025|UMLS:C0037278|SCTID:19824006 owl:Class MONDO:0018806 biolink:NamedThing primary intrahepatic lithiasis tmpak2llvmy_mondo_relaxed.owl primary hepatolithiasis|PIHL Orphanet:480506 owl:Class MONDO:0004868 biolink:NamedThing biliary tract disease A disease involving the biliary tree. tmpak2llvmy_mondo_relaxed.owl disease or disorder of biliary tree|disease of biliary tree|disorder of biliary tree|biliary tree disease|biliary tree disease or disorder MESH:D001660|ICD9:576.9|SCTID:105997008|DOID:9741|ICD10:K83.9 owl:Class GO:0007281 biolink:NamedThing germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. tmpak2llvmy_mondo_relaxed.owl germ-cell development|primordial germ cell development owl:Class HP:0025132 biolink:NamedThing Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormal estrogen level|Abnormal circulating oestrogen level|Abnormal oestrogen level 2016-11-27 13:46:29+00:00 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). HPO:probinson human_phenotype owl:Class HP:0033799 biolink:NamedThing Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation tmpak2llvmy_mondo_relaxed.owl Abnormal circulating gonadal steroid concentration|Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration 2021-05-09 11:33:30+00:00 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. peter human_phenotype owl:Class MONDO:0008323 biolink:NamedThing Liddle syndrome Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. tmpak2llvmy_mondo_relaxed.owl Liddle syndrome|pseudohyperaldosteronism type 1|LIDLS|Liddle's syndrome|pseudoaldosteronism ICD10:I15.1|MedDRA:10037113|Orphanet:526|NCIT:C84827|MedDRA:10052313|SCTID:707747007|UMLS:C0221043|DOID:0050477|MESH:D056929|OMIMPS:177200|GARD:0007381 https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome owl:Class MONDO:0006510 biolink:NamedThing renal tubular transport disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. tmpak2llvmy_mondo_relaxed.owl inborn renal tubular transport disorder|kidney tubular transport, inborn error|kidney tubular transport, inborn errors|renal absorption disease|disorder of renal absorption|renal tubular transport errors|renal tubular transport, inborn error UMLS:C0035091|DOID:447|MESH:D015499|EFO:1000647 owl:Class MONDO:0015247 biolink:NamedThing opsoclonus-myoclonus syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. tmpak2llvmy_mondo_relaxed.owl dancing eye-dancing feet syndrome|oma syndrome|paraneoplastic opsoclonus-myoclonus|Kinsbourne syndrome|POMA syndrome|dancing eye syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|OMS|Ataxo-opso-myoclonus syndrome|opsoclonus myoclonus syndrome|opsoclonus-myoclonus-ataxia syndrome GARD:0010009|EFO:1001383|MESH:D053578|MedDRA:10053854|ICD10:G25.3|SCTID:230350000|NCIT:C4686|UMLS:C0393626|Orphanet:1183|ICD9:379.59 owl:Class MONDO:0000284 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type tmpak2llvmy_mondo_relaxed.owl nephropathis epidemica|nephropathia epidemica DOID:0050201|UMLS:C0242993 owl:Class MONDO:0005784 biolink:NamedThing hantavirus hemorrhagic fever with renal syndrome A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. tmpak2llvmy_mondo_relaxed.owl Puumala virus nephropathy|hemorrhagic fever with renal syndrome|hemorrhagic fever, Russian|hemorrhagic nephrosonephritis|HFRS SCTID:102455002|EFO:0007299|ICD9:078.6|NCIT:C84753|DOID:11266|ICD10:A98.5 owl:Class UBERON:0007691 biolink:NamedThing gustatory pore The minute opening of a taste bud on the surface of the oral mucosa through which the gustatory hairs of the specialised neuroepithelial gustatory cells project. tmpak2llvmy_mondo_relaxed.owl porus gustatorius|taste pore owl:Class UBERON:0000161 biolink:NamedThing orifice Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl anatomical ostium|hilum|ostium|anatomical orifice owl:Class MONDO:0000956 biolink:NamedThing small intestine cancer A primary or metastatic malignant neoplasm involving the small intestine. tmpak2llvmy_mondo_relaxed.owl malignant tumor of small bowel|malignant tumor of the small intestine|malignant tumor of the small bowel|malignant neoplasm of small bowel|malignant small intestine neoplasm|malignant neoplasm of the small bowel|small intestine cancer|malignant small intestinal neoplasm|cancer of small intestine|malignant neoplasm of the small intestine|malignant small bowel neoplasm|malignant tumor of small intestine|malignant small bowel tumor|malignant neoplasm of small intestine|malignant neoplasms of the small intestine|malignant small intestine tumor|small bowel tumors DOID:10154|NCIT:C7523|GARD:0009385|ICD10:C17|ICD10:C17.9|UMLS:C0153425|ICD9:152.9 https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer owl:Class MONDO:0010010 biolink:NamedThing Schinzel-Giedion syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. tmpak2llvmy_mondo_relaxed.owl Schinzel Giedion syndrome|Schinzel Giedion midface-retraction syndrome|SGS|Schinzel-Giedion midface-retraction syndrome|Schinzel-Giedion midface retraction syndrome|Schinzel-Giedion syndrome|Sgs ICD10:Q87.0|MedDRA:10063540|NCIT:C129308|UMLS:C0265227|SCTID:18899000|ICD9:759.89|GARD:0000117|OMIM:269150|Orphanet:798|MESH:C536632 owl:Class GO:0045947 biolink:NamedThing negative regulation of translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. tmpak2llvmy_mondo_relaxed.owl downregulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation|down regulation of translational initiation owl:Class GO:0017148 biolink:NamedThing negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein anabolism|negative regulation of protein formation|downregulation of protein biosynthetic process|negative regulation of protein synthesis|down-regulation of protein biosynthetic process|negative regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|down regulation of protein biosynthetic process|negative regulation of protein biosynthesis|inhibition of protein biosynthetic process|protein biosynthetic process inhibitor activity owl:Class MONDO:0017550 biolink:NamedThing humero-radial synostosis, unilateral tmpak2llvmy_mondo_relaxed.owl humero-radial fusion, unilateral ICD10:Q74.0|Orphanet:295209 owl:Class MONDO:0007737 biolink:NamedThing humeroradial synostosis Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. tmpak2llvmy_mondo_relaxed.owl humeroradial synostosis (disease)|humero-radial synostosis|humero-radial fusion|humeroradial synostosis humeroradial synostosis (disease) ICD10:Q74.0|ICD9:755.59|DOID:0060467|SCTID:205329008|Orphanet:3265|HP:0003041|OMIM:143050|GARD:0002748 owl:Class HGNC:4419 biolink:NamedThing GNRH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007514 biolink:NamedThing ectopia lentis 1, isolated, autosomal dominant Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. tmpak2llvmy_mondo_relaxed.owl ECTOL1|FBN1 isolated ectopia lentis|autosomal dominant isolated ectopia lentis 1|ectopia lentis 1, isolated, autosomal dominant|isolated ectopia lentis caused by mutation in FBN1 UMLS:C3541518|OMIM:129600|DOID:0111150|url:https://www.ncbi.nlm.nih.gov/pubmed/15054843 owl:Class MONDO:0008840 biolink:NamedThing ataxia telangiectasia Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. tmpak2llvmy_mondo_relaxed.owl AT|ataxia - telangiectasia|Louis Bar syndrome|AT1|immunodeficiency with ataxia telangiectasia|AT, complementation group A|ataxia telangiectasia syndrome|ataxia - telangiectasia variant|ataxia telangiectasia|AT, complementation group D|ataxia-telangiectasia|Louis-Bar syndrome|AT, complementation group E|cerebello-oculocutaneous telangiectasia|AT, complementation group C|boder-Sedgwick syndrome GARD:0005862|DOID:12704|ICD9:334.8|MedDRA:10003594|OMIM:208900|MESH:D001260|NCIT:C2887|SCTID:68504005|Orphanet:100|UMLS:C0004135|ICD10:G11.3 https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia owl:Class MONDO:0001270 biolink:NamedThing stone in bladder diverticulum tmpak2llvmy_mondo_relaxed.owl calculus in diverticulum of bladder DOID:11354|UMLS:C0156265|ICD10:N21.0|ICD9:594.0|SCTID:18109005 owl:Class MONDO:0006678 biolink:NamedThing bladder calculus A concretion in the urinary bladder. tmpak2llvmy_mondo_relaxed.owl ICD9:594.1|EFO:1000839|MedDRA:10005001|UMLS:C0005683|DOID:11355|MESH:D001744|SCTID:70650003|ICD10:N21.0 owl:Class MONDO:0011638 biolink:NamedThing neuroferritinopathy Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. tmpak2llvmy_mondo_relaxed.owl neuroferritinopathy|basal ganglia disease, adult-onset|neurodegeneration with brain iron accumulation type 3|hereditary ferritinopathy|neurodegeneration with brain iron accumulation 3|Neuroferritinopathy; basal ganglia disease, adult-onset|adult basal ganglia disease|NBIA3|ferritin-related neurodegeneration|basal ganglia disease adult-onset ICD10:G23.0|Orphanet:157846|UMLS:C1853578|ICD9:333.0|DOID:0110737|MESH:C548080|SCTID:699299001|GARD:0010686|OMIM:606159 Editor note: consider relation to basal ganglia owl:Class MONDO:0018307 biolink:NamedThing neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. tmpak2llvmy_mondo_relaxed.owl neurodegeneration with brain iron accumulation|NBIA Orphanet:385|ICD10:G23.0|DOID:0110734|OMIMPS:234200|GARD:0011899|MESH:C538421 Editor note: check relationship to PKAN owl:Class MONDO:0017907 biolink:NamedThing primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. tmpak2llvmy_mondo_relaxed.owl lymphoma of conjunctiva|primary organ-specific lymphoma of conjunctiva|conjunctiva primary organ-specific lymphoma|primary lymphoid conjunctival tumor|conjunctiva lymphoma ICD10:C85.7|SCTID:763477007|UMLS:CN203974|Orphanet:319667 owl:Class MONDO:0010645 biolink:NamedThing oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. tmpak2llvmy_mondo_relaxed.owl Lowe oculo-cerebro-renal syndrome|Ocrl1|Lowe oculocerebrorenal syndrome|oculocerebrorenal syndrome of Lowe|Lowe syndrome|OCRL|oculo-cerebro-renal syndrome|oculo-cerebro-renal dystrophy|OCR|Lowe disease|oculocerebrorenal dystrophy|oculocerebrorenal syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency UMLS:C0028860|NCIT:C84940|SCTID:79385002|ICD10:E72.0|DOID:1056|ICD9:270.8|GARD:0003295|MedDRA:10051707|OMIM:309000|MESH:D009800|ICD10:E72.03|Orphanet:534 owl:Class UBERON:0013727 biolink:NamedThing notochordal fluid Fluid contained within the notochordal canal tmpak2llvmy_mondo_relaxed.owl portion of notochordal fluid|notochord fluid owl:Class MONDO:0015892 biolink:NamedThing growth hormone insensitivity syndrome Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. tmpak2llvmy_mondo_relaxed.owl GHIS|Growth hormone insensitivity syndromes|short stature due to a defect in growth hormone receptor or post-receptor pathway ICD10:E34.3|UMLS:C0271568|UMLS:C4318479|Orphanet:181393|GARD:0003924|UMLS:CN200504|NCIT:C129867 owl:Class MONDO:0015514 biolink:NamedThing genetic endocrine growth disease tmpak2llvmy_mondo_relaxed.owl growth disorder MESH:D006130|UMLS:CN237424|Orphanet:156643 owl:Class MONDO:0006551 biolink:NamedThing alopecia mucinosa A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl cutaneous focal mucinosis of hair follicle|hair follicle cutaneous focal mucinosis|alopecia mucinosa|follicular mucinosis|alopecia mucinosis|alopecia Mucinosa UMLS:C0002173|MESH:D000507|EFO:1000701|DOID:9905|NCIT:C82859|ICD9:704.09|PMID:24350019|ICD10:L65.2|SCTID:27382006 owl:Class MONDO:0004907 biolink:NamedThing alopecia Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. tmpak2llvmy_mondo_relaxed.owl alopecia areata|alopecia|loss Of hair|hair loss ICD9:704.09|Orphanet:79364|SCTID:56317004|UMLS:C0002170|MESH:D000505|DOID:987|ICD9:704.0|ICD10:L65.9|ICD9:704.00|NCIT:C50575 owl:Class MONDO:0014726 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2X Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|autosomal recessive Charcot Marie Tooth disease type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2X|ARCMT2X|Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth disease, axonal, type 2x|SPG11 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in SPG11|Charcot-Marie-Tooth disease, axonal, type 2X|CMT2X|Charcot-Marie-Tooth neuropathy type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation EFO:1001983|Orphanet:466775|DOID:0110176|OMIM:616668|UMLS:C4225253 owl:Class MONDO:0019601 biolink:NamedThing autosomal recessive axonal hereditary motor and sensory neuropathy Autosomal recessive form of axonal hereditary motor and sensory neuropathy. tmpak2llvmy_mondo_relaxed.owl AR-CMT2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2|axonal hereditary motor and sensory neuropathy, autosomal recessive Orphanet:91024|UMLS:CN206449|ICD10:G60.0 owl:Class ENVO:00002007 biolink:NamedThing sediment Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00010483 biolink:NamedThing environmental material A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. tmpak2llvmy_mondo_relaxed.owl portion of environmental material|environmental owl:Class GO:2000283 biolink:NamedThing negative regulation of cellular amino acid biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of cellular amino acid formation|negative regulation of cellular amino acid anabolism|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid biosynthesis|negative regulation of cellular amino acid synthesis owl:Class GO:0045763 biolink:NamedThing negative regulation of cellular amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpak2llvmy_mondo_relaxed.owl downregulation of amino acid metabolic process|down regulation of amino acid metabolic process|down-regulation of amino acid metabolic process|inhibition of amino acid metabolic process|negative regulation of amino acid metabolism owl:Class MONDO:0012071 biolink:NamedThing congenital generalized lipodystrophy type 1 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene. tmpak2llvmy_mondo_relaxed.owl lipodystrophy, congenital generalized, type 1|lipodystrophy, Berardinelli-Seip congenital, type 1|congenital generalized lipodystrophy type 1|BSCL1|CGL1|AGPAT2-related Brunzell syndrome|Berardinelli-Seip congenital lipodystrophy, type 1|AGPAT2 congenital generalized lipodystrophy (disease)|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|Brunzell syndrome, Agpat2-related|Berardinelli-Seip congenital lipodystrophy type 1|Brunzell syndrome AGPAT2-related GARD:0000084|ICD10:E88.1|DOID:0111135|OMIM:608594 owl:Class MONDO:0006536 biolink:NamedThing congenital generalized lipodystrophy An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. tmpak2llvmy_mondo_relaxed.owl familial generalized lipodystrophy|lipodystrophy, congenital generalized|hereditary generalized lipodystrophy|congenital generalized lipodystrophy (disease)|congenital generalized lipodystrophy congenital generalized lipodystrophy (disease) HP:0009059|DOID:0050585|SCTID:284449005|OMIMPS:608594|EFO:1000681 owl:Class GO:0010468 biolink:NamedThing regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl regulation of protein expression|regulation of gene product expression owl:Class MONDO:0010840 biolink:NamedThing pachygyria-intellectual disability-epilepsy syndrome Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. tmpak2llvmy_mondo_relaxed.owl pachygyria with mental retardation and seizures|pachygyria, intellectual disability and epilepsy|pachygyria with intellectual disability and seizures|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria, mental retardation and epilepsy|pachygyria with mental retardation, seizures, and arachnoid cysts|Kuzniecky syndrome UMLS:C1838491|GARD:0000409|Orphanet:2798|SCTID:763861000|ICD10:G40.4|OMIM:600176|MESH:C538091 owl:Class UBERON:0007590 biolink:NamedThing cuboidal oviduct epithelium A cuboidal epithelium that is part of a oviduct. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004804 biolink:NamedThing oviduct epithelium An epithelium that is part of a oviduct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl columnar epithelium of the oviduct|columnar epithelium of the fallopian tube|epithelium of oviduct|epithelium of fallopian tube|oviduct epithelial tissue|epithelial tissue of oviduct|fallopian tube epithelium|epithelium of uterine tube owl:Class MONDO:0007131 biolink:NamedThing anonychia with flexural pigmentation Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl anonychia with flexural pigmentation UMLS:C1862844|MESH:C566278|OMIM:106750|Orphanet:69125 owl:Class MONDO:0019285 biolink:NamedThing syndromic nail anomaly A nail anomaly that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with nail anomaly|syndromic nail anomaly UMLS:CN227613|Orphanet:79370 owl:Class MONDO:0044300 biolink:NamedThing familial adenomatous polyposis 4 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). tmpak2llvmy_mondo_relaxed.owl FAP4|familial adenomatous polyposis type 4|familial adenomatous polyposis 4 OMIM:617100|DOID:0080412 MONDO:0014913 owl:Class MONDO:0016362 biolink:NamedThing attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. tmpak2llvmy_mondo_relaxed.owl attenuated familial adenomatous polyposis|attenuated familial polyposis coli|mild form of FAP|HFAS|AFAP|attenuated FAP|AAPC|attenuated adenomatous polyposis coli|hereditary flat adenoma syndrome NCIT:C6729|MESH:C538265|ICD10:D12.6|Orphanet:220460|UMLS:C2674616|SCTID:715866009|GARD:0008532 owl:Class MONDO:0010547 biolink:NamedThing X-linked progressive cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, X-linked 1|spinocerebellar ataxia, X-linked type 1|olivopontocerebellar atrophy, X-linked|OPCA, X-linked|SCAX1 Orphanet:1175|MESH:C563134|UMLS:C0796205|ICD10:G11.1|OMIM:302500 owl:Class UBERON:0016479 biolink:NamedThing capsule of liver A collagenous capsule covering the external surface of the liver. tmpak2llvmy_mondo_relaxed.owl glisson's capsule|fibrous capsule of liver|capsula fibrosa perivascularis|tunica fibrosa hepatis|liver capsule|tunica fibrosa (hepar)|hepatic capsule|fibrous capsule of Glisson owl:Class MONDO:0016464 biolink:NamedThing insulin-resistance syndrome type B Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. tmpak2llvmy_mondo_relaxed.owl insulin-resistance type B UMLS:C0342337|GARD:0003009|ICD10:E13|Orphanet:2298 https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b owl:Class MONDO:0005015 biolink:NamedThing diabetes mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. tmpak2llvmy_mondo_relaxed.owl DM|diabetes mellitus|diabetes|diabetes mellitus (disease) diabetes mellitus (disease) MESH:D003920|NCIT:C2985|ICD9:250|SCTID:73211009|HP:0000819|EFO:0000400|UMLS:C0011849|UMLS:C0011847|DOID:9351|ICD10:E08-E13|ICD10:E11|ICD10:E10.E14 owl:Class MONDO:0024981 biolink:NamedThing rodent disease Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). tmpak2llvmy_mondo_relaxed.owl rodent disease|diseases, Rodent|disease, Rodent MESH:D012376|UMLS:C0035801 owl:Class MONDO:0005583 biolink:NamedThing non-human animal disease A disease that occurs in animals. tmpak2llvmy_mondo_relaxed.owl animal disease|diseases, animal UMLS:C0003047|EFO:0005932|MESH:D000820 owl:Class GO:0006396 biolink:NamedThing RNA processing Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016070 biolink:NamedThing RNA metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. tmpak2llvmy_mondo_relaxed.owl RNA metabolism owl:Class MONDO:0014731 biolink:NamedThing seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. tmpak2llvmy_mondo_relaxed.owl SSM syndrome|SSMS|seizures, scoliosis, and macrocephaly syndrome UMLS:C4225248|Orphanet:466926|OMIM:616682|GARD:0009960 owl:Class MONDO:0015656 biolink:NamedThing metabolic disease with epilepsy tmpak2llvmy_mondo_relaxed.owl metabolic diseases with epilepsy 2022-03-01 Orphanet:166481|UMLS:C1299598 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0010789 biolink:NamedThing MELAS syndrome MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|MELAS syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|MELAS UMLS:C0162671|MESH:D017241|NCIT:C84885|OMIM:540000|DOID:3687|ICD10:G71.3|GARD:0007009|Orphanet:550|ICD10:E88.41|MedDRA:10053872|ICD9:277.87|SCTID:39925003 owl:Class MONDO:0011533 biolink:NamedThing temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|preaxial brachydactyly syndrome, TEMTAMY type|TEMTAMY preaxial brachydactyly syndrome|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TPBS|temtamy preaxial brachydactyly syndrome|preaxial brachydactyly syndrome, Temtamy type DOID:0050814|GARD:0009679|OMIM:605282|ICD10:Q87.2|UMLS:C1854466|MESH:C536958|Orphanet:363417 https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome owl:Class MONDO:0005827 biolink:NamedThing lipoatrophic diabetes A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. tmpak2llvmy_mondo_relaxed.owl lipoatrophic diabetes mellitus|lipoatrophic Diabete|lipoatrophic diabetes|diabetes, lipoatrophic|Diabete, lipoatrophic EFO:0007346|NCIT:C34537|MESH:D003923|DOID:11712 Editor note: consider merging owl:Class MONDO:0005148 biolink:NamedThing type 2 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. tmpak2llvmy_mondo_relaxed.owl maturity-onset diabetes|non-insulin dependent diabetes|non-insulin dependent diabetes mellitus|type 2 diabetes mellitus|diabetes mellitus, type 2, protection against|non-insulin-dependent diabetes mellitus|adult onset diabetes|diabetes mellitus, type 2|T2DM - type 2 diabetes mellitus|diabetes, type 2|adult-onset diabetes|type 2 diabetes|diabetes mellitis type 2|type 2 diabetes mellitus non-insulin dependent|noninsulin-dependent diabetes mellitus|type II diabetes|noninsulin dependent diabetes|NIDDM|diabetes mellitus, noninsulin-dependent|insulin resistance, susceptibility to|diabetes mellitis type II|type II diabetes mellitus UMLS:CN244395|EFO:0001360|OMIM:125853|SCTID:44054006|ICD10:E11|MESH:D003924|NCIT:C26747|KEGG:04930|DOID:9352 owl:Class MONDO:0010716 biolink:NamedThing X-linked lethal multiple pterygium syndrome X-linked form of lethal multiple pterygium syndrome. tmpak2llvmy_mondo_relaxed.owl pterygium syndrome, multiple, X-linked|multiple pterygium syndrome X-linked|multiple pterygium syndrome, X-linked|pterygium syndrome multiple X-linked|lethal multiple pterygium syndrome, X-linked SCTID:763462004|GARD:0004573|Orphanet:79447|MESH:C564072|ICD10:Q79.8|OMIM:312150|UMLS:C1839440 https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked owl:Class MONDO:0007029 biolink:NamedThing branchio-oto-renal syndrome A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). tmpak2llvmy_mondo_relaxed.owl branchiootorenal dysplasia|Branchio-Oto-renal syndrome|Branchio oto renal syndrome|bor syndrome|branchio-oto-renal syndrome|Branchio-otorenal dysplasia|Melnick-Fraser syndrome|branchiootorenal syndrome UMLS:CN043574|MESH:D019280|UMLS:C0265234|NCIT:C98983|Wikipedia:Branchio-oto-renal_syndrome|ICD9:759.89|SCTID:290006|Orphanet:107|EFO:1001251|GARD:0010147|ICD10:Q87.8|DOID:14702|MedDRA:10071135 (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. owl:Class MONDO:0016337 biolink:NamedThing syndrome associated with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:217619|UMLS:CN201167 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0013107 biolink:NamedThing atopic dermatitis 7 An atopic dermatitis associated with variation in the region 11q13.5. tmpak2llvmy_mondo_relaxed.owl ATOD7|atopic dermatitis type 7|dermatitis, ATOPIC, 7 DOID:0110103|MESH:C567796|OMIM:613064|UMLS:C2751599 owl:Class MONDO:0004980 biolink:NamedThing atopic eczema A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. tmpak2llvmy_mondo_relaxed.owl allergic form of dermatitis|Atopic dermatitis|allergic dermatitis|eczema|atopic eczema|eczematous dermatitis|Besnier's prurigo|allergic|Atopic neurodermatitis EFO:0000274|NCIT:C3001|ICD10:L20.9|OMIMPS:603165|ICD9:691.8|ICD9:691|DOID:3310|ICD10:L20|ICD10:L20.81 owl:Class UBERON:0006930 biolink:NamedThing glandular cuboidal epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006799 biolink:NamedThing glandular epithelium An epithelium that is composed primarily of secretory cells. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:131530 biolink:NamedThing pyridoxal(1+) A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal. tmpak2llvmy_mondo_relaxed.owl 4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium|pyridoxal cation owl:Class CHEBI:27306 biolink:NamedThing vitamin B6 Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms). tmpak2llvmy_mondo_relaxed.owl vitamin B6 vitamers|vitamin B-6|vitamins B6|Vitamin B6|vitamine B6|vitamina B6|vitamin B6 vitamer owl:Class MONDO:0021838 biolink:NamedThing Al Gazali Khidr Prem Chandran syndrome A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl cherubism, optic atrophy and short stature MESH:C535616|GARD:0000586|UMLS:C2930951 https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome owl:Class UBERON:0003891 biolink:NamedThing stroma Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. tmpak2llvmy_mondo_relaxed.owl stromal connective tissue owl:Class UBERON:0010167 biolink:NamedThing beard The collection of hair that grows on the chin, cheeks and neck of human beings. Usually, only pubescent or adult males are able to grow beards. However, women with hirsutism may develop a beard. When differentiating between upper and lower facial hair, a beard specifically includes the moustache, which refers to hair above the upper lip and around it. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010165 biolink:NamedThing collection of hair on face A collection of hairs that is part of a face. tmpak2llvmy_mondo_relaxed.owl facial hairs set|set of facial hairs|facial hair owl:Class MONDO:0017512 biolink:NamedThing split hand, bilateral Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpak2llvmy_mondo_relaxed.owl ICD10:Q71.6|Orphanet:295122 owl:Class MONDO:0017449 biolink:NamedThing split hand Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpak2llvmy_mondo_relaxed.owl split hand|split hand (disease)|ectrodactyly of hand split hand (disease) HP:0001171|ICD10:Q71.6|Orphanet:294992 owl:Class MONDO:0013784 biolink:NamedThing lethal neonatal spasticity-epileptic encephalopathy syndrome tmpak2llvmy_mondo_relaxed.owl lethal neonatal rigidity-multifocal seizure syndrome|RMFSL|lethal neonatal spasticity-epileptic encephalopathy syndrome|rigidity and multifocal seizure syndrome, lethal neonatal EFO:0009144|ICD10:G40.4|Orphanet:435845|OMIM:614498|UMLS:C3281029 owl:Class MONDO:0010650 biolink:NamedThing Melnick-Needles syndrome Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. tmpak2llvmy_mondo_relaxed.owl Melnick-Needles osteodysplasty|Melnick-Needles syndrome|MELNICK-NEEDLES syndrome|osteodysplasty of Melnick and Needles|MNS OMIM:309350|GARD:0007011|DOID:0111788|MedDRA:10060908|ICD9:756.59|UMLS:C0025237|Orphanet:2484|SCTID:13449007|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome owl:Class MONDO:0018233 biolink:NamedThing otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. tmpak2llvmy_mondo_relaxed.owl OPD spectrum disorder|OPSD UMLS:C2748918|Orphanet:364541|DOID:0111782 owl:Class HP:0040211 biolink:NamedThing Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. tmpak2llvmy_mondo_relaxed.owl UMLS:C4073159 HPO:skoehler human_phenotype owl:Class HP:0000741 biolink:NamedThing Apathy tmpak2llvmy_mondo_relaxed.owl Lack of feeling, emotion, interest SNOMEDCT_US:20602000|MSH:D057565|UMLS:C0085632 human_phenotype owl:Class HP:0000745 biolink:NamedThing Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. tmpak2llvmy_mondo_relaxed.owl Diminished motivation|Lack of initiative|Lacks initiative|Lacking in initiative|Lack of motivation SNOMEDCT_US:277521002|UMLS:C0456814 human_phenotype owl:Class UBERON:0007182 biolink:NamedThing muscle layer of infundibulum of uterine tube A muscle layer that is part of a uterine tube infundibulum. tmpak2llvmy_mondo_relaxed.owl muscle layer of infundibulum of oviduct|muscularis of infundibulum of uterine tube|muscle layer of infundibulum of fallopian tube owl:Class UBERON:0004134 biolink:NamedThing proximal tubule In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. tmpak2llvmy_mondo_relaxed.owl kidney proximal tubule|proximal kidney tubule|renal proximal tubule owl:Class MONDO:0003852 biolink:NamedThing ovarian solid teratoma A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. tmpak2llvmy_mondo_relaxed.owl DOID:6315|NCIT:C7285|UMLS:C1335181 owl:Class MONDO:0003820 biolink:NamedThing mature ovarian teratoma An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpak2llvmy_mondo_relaxed.owl ovary mature teratoma|mature ovarian teratoma|mature teratoma of ovary|mature teratoma of the ovary|mature teratoma DOID:6231|NCIT:C8112|ONCOTREE:OMT|UMLS:C1334637 owl:Class MONDO:0014200 biolink:NamedThing aldosterone-producing adenoma with seizures and neurological abnormalities tmpak2llvmy_mondo_relaxed.owl aldosterone-secreting adenoma with seizures and neurological abnormalities|PASNA|primary aldosteronism, seizures, and neurologic abnormalities|Conn adenoma with seizures and neurological abnormalities|apa with seizures and neurological abnormalities Orphanet:369929|UMLS:C3809609|OMIM:615474|ICD10:E26.0 owl:Class MONDO:0016525 biolink:NamedThing familial hyperaldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. tmpak2llvmy_mondo_relaxed.owl FH|hereditary hyperaldosteronism|genetic hyperaldosteronism Orphanet:235936|Orphanet:371861|UMLS:C3713420|OMIMPS:103900|NCIT:C127160|SCTID:703231005|MESH:C580087|ICD10:E26.0|UMLS:CN229602 owl:Class MONDO:0023011 biolink:NamedThing Wilson-Mikity syndrome tmpak2llvmy_mondo_relaxed.owl wilson-mikity syndrome|pulmonary dysmaturity|Pulmonary dysmaturity syndrome|Pulmonary dysmaturity|Wilson-Mikity syndrome GARD:0010495|UMLS:C0270171|SCTID:51577008 owl:Class MONDO:0005275 biolink:NamedThing lung disease A disease involving the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary diseases|pulmonary disorder|disease of lung|disorder of lung|lung disease|lung disorder|lung disease or disorder|disease or disorder of lung|pulmonary disease|pulmonary disorders|lung disorders DOID:850|MESH:D008171|NCIT:C3198|SCTID:19829001|ICD9:518.89|ICD10:J98.4|EFO:0003818 owl:Class GO:0046886 biolink:NamedThing positive regulation of hormone biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpak2llvmy_mondo_relaxed.owl positive regulation of hormone anabolism|stimulation of hormone biosynthetic process|up regulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|upregulation of hormone biosynthetic process|positive regulation of hormone synthesis|up-regulation of hormone biosynthetic process|activation of hormone biosynthetic process|positive regulation of hormone formation owl:Class GO:0032352 biolink:NamedThing positive regulation of hormone metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpak2llvmy_mondo_relaxed.owl activation of hormone metabolic process|up regulation of hormone metabolic process|up-regulation of hormone metabolic process|positive regulation of hormone metabolism|stimulation of hormone metabolic process|upregulation of hormone metabolic process owl:Class MONDO:0009836 biolink:NamedThing pancreatitis, sclerosing cholangitis, and sicca complex tmpak2llvmy_mondo_relaxed.owl pancreatitis, sclerosing cholangitis, and sicca complex MESH:C564906|OMIM:260480|UMLS:C1850080 owl:Class MONDO:0023820 biolink:NamedThing Moebius axonal neuropathy hypogonadism tmpak2llvmy_mondo_relaxed.owl Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type GARD:0003698|MESH:C535806 https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism owl:Class MONDO:0002146 biolink:NamedThing hypogonadism A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. tmpak2llvmy_mondo_relaxed.owl gonadotropin deficiency|hypogonadotropism MESH:D007006|UMLS:C0020619|NCIT:C9227|ICD9:253.4|DOID:1924|SCTID:48130008 owl:Class MONDO:0032831 biolink:NamedThing pontocerebellar hypoplasia, type 13 tmpak2llvmy_mondo_relaxed.owl PONTOCEREBELLAR HYPOPLASIA, TYPE 13|PCH13 OMIM:618606 owl:Class MONDO:0010023 biolink:NamedThing combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. tmpak2llvmy_mondo_relaxed.owl severe combined immunodeficiency due to ZAP70 deficiency|STCD|IMD48|immunodeficiency 48|ZAP-70 deficiency|selective T-cell defect|zeta-associated-protein 70 deficiency OMIM:269840|Orphanet:911|SCTID:716378008|MESH:C536722|ICD10:D81.8|GARD:0000387 owl:Class MONDO:0003093 biolink:NamedThing mucoepidermoid esophageal carcinoma A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma NCIT:C5343|UMLS:C1333461|DOID:4686 owl:Class MONDO:0005028 biolink:NamedThing esophageal adenocarcinoma A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma - esophagus|oesophageal adenocarcinoma|esophagus adenocarcinoma|adenocarcinoma of the esophagus|adenocarcinoma of esophagus|esophageal adenocarcinoma ICD10:C15.5|Orphanet:99976|DOID:4914|EFO:0000478|NCIT:C4025|ONCOTREE:ESCA|UMLS:C0279628|ICD10:C15.2|SCTID:276803003 owl:Class MPATH:608 biolink:NamedThing abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. tmpak2llvmy_mondo_relaxed.owl owl:Class MPATH:607 biolink:NamedThing healing and repair structure Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000751 biolink:NamedThing cervical polyp A polyp that arises from the surface of the cervix. tmpak2llvmy_mondo_relaxed.owl polyp of cervix|cervix adenomatous polyp|cervix polyp|polyp of the cervix|cervical polyp|polyp of the cervix uteri|uterine cervix adenomatous polyp|polyp of uterine cervix|adenomatous polyp of uterine cervix|adenomatous polyp of the uterine cervix|polyp of the uterine cervix|adenomatous polyp of cervix|cervix uteri adenomatous polyp|cervix uteri polyp|polyp of cervix uteri|uterine cervix polyp|cervical polyp (disease)|adenomatous polyp of the cervix cervical polyp (disease) ICD10:D26|SCTID:65576009|ICD10:D26.9|NCIT:C2939|DOID:0060325|ICD9:219|UMLS:C0007855|UMLS:C0347493|HP:0030159 owl:Class MONDO:0008240 biolink:NamedThing 6-phosphogluconolactonase deficiency tmpak2llvmy_mondo_relaxed.owl 6-phosphogluconolactonase deficiency|Pgls deficiency|6Pgl deficiency MESH:C566803|OMIM:172150|UMLS:C1868355 owl:Class CHEBI:37332 biolink:NamedThing tropane alkaloid tmpak2llvmy_mondo_relaxed.owl tropane alkaloids owl:Class CHEBI:22315 biolink:NamedThing alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. tmpak2llvmy_mondo_relaxed.owl alcaloides|alcaloide|Alkaloid|alkaloids|Alkaloide owl:Class UBERON:0010190 biolink:NamedThing pair of dorsal aortae the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation tmpak2llvmy_mondo_relaxed.owl paired dorsal aortae owl:Class UBERON:0001197 biolink:NamedThing ileocolic artery The Ileocolic Artery is the lowest branch arising from the concavity of the superior mesenteric artery. It passes downward and to the right behind the peritoneum toward the right iliac fossa, where it divides into a superior and an inferior branch; the inferior anastomoses with the end of the superior mesenteric artery, the superior with the right colic artery. Supplies the cecum, ileum, and appendix. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria ileocolica owl:Class MONDO:0013821 biolink:NamedThing intellectual disability, autosomal dominant 16 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene. tmpak2llvmy_mondo_relaxed.owl SMARCA4 Coffin-Siris syndrome|mental retardation, autosomal dominant 16|autosomal dominant intellectual disability 16|MRD16|Coffin-Siris syndrome caused by mutation in SMARCA4|COFFIN-SIRIS syndrome 4|CSS4|intellectual disability, autosomal dominant type 16|autosomal dominant mental retardation 16|mental retardation, autosomal dominant type 16|intellectual disability, autosomal dominant 16 DOID:0070046|UMLS:C3553249|OMIM:614609 owl:Class MONDO:0015452 biolink:NamedThing Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. tmpak2llvmy_mondo_relaxed.owl fifth digit syndrome|short stature-onychodysplasia.|CSS|dwarfism-onychodysplasia|intellectual disability with absent fifth fingernail and terminal phalanx|Coffin-Siris syndrome ICD10:Q87.1|OMIMPS:135900|NCIT:C35321|Orphanet:1465|SCTID:10007009|GARD:0006124|UMLS:C0265338|MESH:C536436|DOID:1925|ICD9:759.89 owl:Class MONDO:0002407 biolink:NamedThing capillary hemangioma A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. tmpak2llvmy_mondo_relaxed.owl capillary hemangioma|cellular hemangioma of infancy|congenital vascular hamartoma|capillary hemangioma (morphologic abnormality)|strawberry haemangioma|strawberry nevus of skin|congenital vascular naevus|cellular hemangioma of infancy (strawberry nevus)|strawberry nevus|infantile hemangioma|juvenile hemangioma|capillary angioma ICD10:Q82.5|SCTID:56975005|DOID:2725|UMLS:C0206733|NCIT:C7457|ICDO:9131/0|MESH:D018324 owl:Class MONDO:0008485 biolink:NamedThing sebocystomatosis Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. tmpak2llvmy_mondo_relaxed.owl Steatocystoma multiplex|multiplex steatocystoma|multiple sebaceous cysts|STEATOCYSTOMA multiplex|sebaceous cysts, multiple ICD10:L72.2|SCTID:109433009|UMLS:C0259771|GARD:0005003|Orphanet:841|UMLS:C3671377|OMIM:184500|DOID:0111556 owl:Class MONDO:0021029 biolink:NamedThing genetic sebaceous gland anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic sebaceous gland anomaly Orphanet:183460 owl:Class MONDO:0010862 biolink:NamedThing type 1 diabetes mellitus 4 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 4|IDDM4|insulin-dependent diabetes mellitus 4 MESH:C563959|OMIM:600319|DOID:0110743|UMLS:C1838261|ICD10:E10 owl:Class MONDO:0012984 biolink:NamedThing PHARC syndrome Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. tmpak2llvmy_mondo_relaxed.owl polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|PHARC|peripheral neuropathy, Fiskerstrand type|PHARC syndrome|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome OMIM:612674|DOID:0080181|MESH:C567203|Orphanet:171848|SCTID:723452007|UMLS:C2675204 owl:Class MONDO:0019593 biolink:NamedThing 46,XX disorder of sex development induced by fetal androgens excess tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by fetal androgens excess ICD10:E25.0|Orphanet:90776|UMLS:CN227655 owl:Class MONDO:0007481 biolink:NamedThing Leri-Weill dyschondrosteosis LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. tmpak2llvmy_mondo_relaxed.owl DCo|LWD|Léri-Weill dyschondrosteosis|Leri-Weill dyschondrosteosis|LC)ri-Weill syndrome|Madelung deformity|Leri Weill dyschondrosteosis|Leri-Weill syndrome|Léri-Weill syndrome|LC)ri-Weill dyschondrosteosis|dyschondrosteosis ICD10:Q77.8|SCTID:17818006|OMIM:127300|DOID:0060847|UMLS:C0265309|ICD9:756.59|GARD:0003224|NCIT:C126560|Orphanet:240 https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis owl:Class MONDO:0013291 biolink:NamedThing glycogen storage disease XV Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. tmpak2llvmy_mondo_relaxed.owl glycogenosis type XV|glycogenin deficiency|glycogen storage disease type XV|glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|Gyg1 deficiency|GSD type 15|glycogen storage disease type 15|GSD with severe cardiomyopathy due to glycogenin deficiency|GSD type XV|glycogen storage disease XV|glycogenosis type 15|GSD 15|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|GSD15|glycogen storage disease 15 DOID:0050579|ICD10:E74.0|SCTID:717821004|Orphanet:263297|OMIM:613507|UMLS:C3150754 owl:Class MONDO:0002327 biolink:NamedThing intracranial cavernous angioma A cavernous hemangioma arising from the brain and meninges. tmpak2llvmy_mondo_relaxed.owl intracranial cavernoma|intracranial cavernous hemangioma|intracranial cavernous angioma NCIT:C5432|UMLS:C1334237|SCTID:445513004|DOID:2516 owl:Class GO:0014062 biolink:NamedThing regulation of serotonin secretion Any process that modulates the frequency, rate or extent of the regulated release of serotonin. tmpak2llvmy_mondo_relaxed.owl regulation of serotonin release owl:Class MONDO:0003382 biolink:NamedThing eyelid disease A disease involving the eyelid. tmpak2llvmy_mondo_relaxed.owl disorder of eyelid|disease of eyelid|eyelid disease|eyelid disease or disorder|disease or disorder of eyelid|eyelid disorder DOID:530|ICD10:H02.9|ICD10:H00|ICD9:374.89|SCTID:60113004|NCIT:C26768|ICD9:374.9|MESH:D005141 owl:Class MONDO:0014559 biolink:NamedThing progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome tmpak2llvmy_mondo_relaxed.owl MRT48|mental retardation, autosomal recessive type 48|intellectual disability, autosomal recessive 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive type 48 OMIM:616269|UMLS:C4225395|Orphanet:457212 owl:Class GO:1905940 biolink:NamedThing negative regulation of gonad development Any process that stops, prevents or reduces the frequency, rate or extent of gonad development. tmpak2llvmy_mondo_relaxed.owl inhibition of gonad development|downregulation of gonad development|negative regulation of gonadogenesis|inhibition of gonadogenesis|down regulation of gonadogenesis|downregulation of gonadogenesis|down-regulation of gonadogenesis|down-regulation of gonad development|down regulation of gonad development owl:Class MONDO:0014643 biolink:NamedThing congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl BASEL-Vanagaite-SMIRIN-YOSEF syndrome|BVSYS UMLS:C4225323|OMIM:616449|Orphanet:464738 owl:Class HGNC:7662 biolink:NamedThing NCF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014196 biolink:NamedThing Hartsfield-Bixler-Demyer syndrome tmpak2llvmy_mondo_relaxed.owl holoprosencephaly-ectrodactyly-cleft lip palate syndrome|Hartsfield-Bixler-Demyer syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|HARTSFIELD syndrome|HRTFDS|holoprosencephaly-ectrodactyly-cleft lip/palate syndrome SCTID:766032007|UMLS:C1845146|OMIM:615465|ICD10:Q87.8|Orphanet:2117|MESH:C564484 owl:Class MONDO:0006593 biolink:NamedThing pelvic lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. tmpak2llvmy_mondo_relaxed.owl pelvic lipomatosis (morphologic abnormality)|pelvic lipomatosis|Excess of mature unencapsulated fatty tissue in the pelvis NCIT:C27486|GARD:0007350|UMLS:C0406608|EFO:1000748|DOID:3927|MESH:C535549 https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis owl:Class MONDO:0006574 biolink:NamedThing lipomatosis A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. tmpak2llvmy_mondo_relaxed.owl Launois-Bensaude syndrome|Madelung's disease|lipomatosis|Madelung disease UMLS:C0023801|MESH:D008068|ICD9:272.8|Wikipedia:Lipomatosis|DOID:3153|SCTID:402693001|NCIT:C3193|ICD10:E88.2|EFO:1000728 owl:Class MONDO:0024530 biolink:NamedThing Bethlem myopathy 1 tmpak2llvmy_mondo_relaxed.owl Bethlem myopathy 1|myopathy, benign congenital, with contractures|Bethlem myopathy|BTHLM1|muscular dystrophy, benign congenital OMIM:158810|UMLS:CN029274 owl:Class MONDO:0100225 biolink:NamedThing collagen 6-related myopathy A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. tmpak2llvmy_mondo_relaxed.owl collagen 6-related myopathy|collagen VI-related myopathy|collagen VI-related muscle disorder|collagen VI-related muscular dystrophy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0027407 biolink:NamedThing Kleefstra syndrome 1 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. tmpak2llvmy_mondo_relaxed.owl 9q-syndrome|Kleefstra syndrome|chromosome 9q34.3 deletion syndrome|KLEFS1|Kleefstra syndrome 1 SCTID:724207001|UMLS:C0795833|NCIT:C129976|MESH:C563043|DOID:0070075|OMIM:610253 owl:Class CHEBI:38187 biolink:NamedThing pyridinecarbaldehyde tmpak2llvmy_mondo_relaxed.owl pyridinecarbaldehydes owl:Class CHEBI:49104 biolink:NamedThing heteroarenecarbaldehyde An aldehyde in which a formyl group is located on a heteroarene. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017347 biolink:NamedThing plasmablastic lymphoma An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone. tmpak2llvmy_mondo_relaxed.owl Plasmablastic lymphoma|PLBL|PBL UMLS:C3472614|GARD:0012125|NCIT:C7224|MESH:D000069293|ICDO:9684/3|ONCOTREE:PLBL|ICDO:9735/3|Orphanet:289666|SCTID:724648008|ICD10:C83.3|MedDRA:10065039 https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma owl:Class MONDO:0018905 biolink:NamedThing diffuse large B-cell lymphoma Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. tmpak2llvmy_mondo_relaxed.owl DLBCL|diffuse large B-cell lymphoma NCIT:C8851|DOID:0050745|Orphanet:544|ICDO:9680/3|MESH:D016403|UMLS:C0079744|GARD:0003178|EFO:0000403|ICD10:C83.3|ICD9:200.7|MedDRA:10012818 https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma owl:Class MONDO:0009024 biolink:NamedThing cortical blindness-intellectual disability-polydactyly syndrome This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly. tmpak2llvmy_mondo_relaxed.owl cortical blindness, retardation, and postaxial polydactyly OMIM:218010|GARD:0001548|MESH:C565674|Orphanet:1389|UMLS:C1857568 https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome owl:Class MONDO:0023543 biolink:NamedThing Katsantoni-Papadakou-Lagoyanni syndrome tmpak2llvmy_mondo_relaxed.owl Trichodermal syndrome and mental retardation|Trichodermal syndrome and intellectual disability|Katsantoni Papadakou Lagoyanni syndrome UMLS:C2931394|GARD:0003081|MESH:C537012 https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome owl:Class MONDO:0002917 biolink:NamedThing disease of pilosebaceous unit A disease that involves the pilosebaceous unit. tmpak2llvmy_mondo_relaxed.owl pilosebaceous unit disease|hair and hair follicle diseases|pilosebaceous unit disease or disorder|hair disorder|disease of pilosebaceous unit|disorder of pilosebaceous unit|hair disease|disease or disorder of pilosebaceous unit|hair/hair follicle diseases UMLS:C0554472|DOID:421|ICD9:704.8|NCIT:C34656|UMLS:C0018500|SCTID:201128002|MESH:D006201|ICD9:704.9 owl:Class MONDO:0010831 biolink:NamedThing familial caudal dysgenesis Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. tmpak2llvmy_mondo_relaxed.owl familial caudal dysgenesis|caudal dysgenesis syndrome|sacral defect with anterior meningocele|caudal regression|caudal regression syndrome|caudal dysgenesis familial type|sacral agenesis|SDAM|sirenomelia|Rudd-Klimek syndrome|Sdam SCTID:722493007|GARD:0004751|ICD10:Q87.8|NCIT:C99054|GARD:0000215|OMIM:600145|Orphanet:1768 owl:Class MONDO:0001282 biolink:NamedThing fallopian tube endometriosis Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. tmpak2llvmy_mondo_relaxed.owl endometriosis (disease) of fallopian tube|fallopian tube endometriosis (disease)|endometriosis of fallopian tube|fallopian tube endometriosis ICD9:617.2|ICD10:N80.2|SCTID:22611009|DOID:11424|NCIT:C26763|UMLS:C0014177 owl:Class MONDO:0002156 biolink:NamedThing fallopian tube disease A disease involving the fallopian tube. tmpak2llvmy_mondo_relaxed.owl disorder of fallopian tube|fallopian tube disease|disease of fallopian tube|disease or disorder of fallopian tube|fallopian tube disorder|fallopian tube disease or disorder DOID:1962|SCTID:128134005|NCIT:C26771|MESH:D005184|UMLS:C0015556 owl:Class MONDO:0032746 biolink:NamedThing hydatidiform mole, recurrent, 3 tmpak2llvmy_mondo_relaxed.owl HYDATIDIFORM MOLE, RECURRENT, 3|HYDM3 OMIM:618431 owl:Class GO:1902669 biolink:NamedThing positive regulation of axon guidance Any process that activates or increases the frequency, rate or extent of axon guidance. tmpak2llvmy_mondo_relaxed.owl positive regulation of axon chemotaxis|activation of axon pathfinding|up-regulation of axon growth cone guidance|upregulation of axon chemotaxis|up regulation of axon pathfinding|up-regulation of axon chemotaxis|upregulation of axon guidance|up-regulation of axon guidance|activation of axon chemotaxis|up regulation of axon guidance|up regulation of axon chemotaxis|upregulation of axon growth cone guidance|positive regulation of axon pathfinding|upregulation of axon pathfinding|activation of axon guidance|up regulation of axon growth cone guidance|up-regulation of axon pathfinding|activation of axon growth cone guidance|positive regulation of axon growth cone guidance owl:Class GO:0051272 biolink:NamedThing positive regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular component motion owl:Class MONDO:0008082 biolink:NamedThing multiple endocrine neoplasia type 2B Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. tmpak2llvmy_mondo_relaxed.owl Wagenmann-Froboese syndrome|multiple endocrine neoplasia type 2B|men type 2B|mucosal neuroma syndrome|multiple endocrine neoplasia, type III|multiple endocrine neoplasia, type 2B|multiple endocrine adenomatosis type IIB|multiple endocrine neoplasia, type III, formerly|men 2B|multiple endocrine neoplasia type 3|mucosal Neuroma syndrome|men type IIB|multiple endocrine neoplasia type IIB|multiple endocrine neoplasia, type IIB|multiple endocrine neoplasia, type 3|multiple endocrine neoplasia, type 3 (formerly)|men IIB|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type III|MEN2B ICD9:258.03|ICD9:237.4|MESH:D018814|Orphanet:247709|UMLS:C0025269|OMIM:162300|NCIT:C3227|DOID:10016|SCTID:61530001|GARD:0010225|MedDRA:10056420|ICD10:E31.23|ICD10:D44.8 https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b owl:Class MONDO:0019003 biolink:NamedThing multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). tmpak2llvmy_mondo_relaxed.owl multiple endocrine neoplasia type 2|MEN2 ICD9:194.8|ICD10:D44.8|Orphanet:653|ICD9:258.02|NCIT:C123329|MedDRA:10028191|SCTID:61808009|UMLS:C4048306|GARD:0003830|UMLS:CN073359 https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 owl:Class MONDO:0017369 biolink:NamedThing autoinflammatory syndrome with immune deficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:290839|UMLS:CN203042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class GO:0060759 biolink:NamedThing regulation of response to cytokine stimulus Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0031365 biolink:NamedThing Macular purpura Purpura that is flat (non-palpable, not raised). tmpak2llvmy_mondo_relaxed.owl Flat purpura 2017-08-29 12:35:34+00:00 peter human_phenotype owl:Class HP:0000979 biolink:NamedThing Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. tmpak2llvmy_mondo_relaxed.owl Red or purple spots on the skin|Blood spots MSH:D011693|SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:423902002|SNOMEDCT_US:12393003 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). human_phenotype owl:Class MONDO:0016399 biolink:NamedThing amino acid or protein metabolism disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201330|Orphanet:225689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0007095 biolink:NamedThing ameloonychohypohidrotic syndrome tmpak2llvmy_mondo_relaxed.owl hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|amelo-onycho-hypohidrotic syndrome|ameloonychohypohidrotic syndrome Orphanet:1028|OMIM:104570|UMLS:C1863006|GARD:0000647|SCTID:715404000|MESH:C538245|ICD10:Q82.4 https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome owl:Class MONDO:0024336 biolink:NamedThing vulvar adenocarcinoma An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma. tmpak2llvmy_mondo_relaxed.owl vulvar adenocarcinoma|adenocarcinoma of vulva|mammalian vulva adenocarcinoma|adenocarcinoma of the vulva|vulva adenocarcinoma UMLS:C1336975|Orphanet:494454|NCIT:C6380|DOID:2098 owl:Class MONDO:0002198 biolink:NamedThing vulvar glandular neoplasm A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl vulvar glandular neoplasm|vulvar glandular tumor|mammalian vulva glandular cell neoplasm NCIT:C40292|DOID:2076|UMLS:C1520082 owl:Class MONDO:0024417 biolink:NamedThing perceptual disorders Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. tmpak2llvmy_mondo_relaxed.owl MESH:D010468 owl:Class MONDO:0009758 biolink:NamedThing congenital stationary night blindness 1B Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness type 1B|night blindness, congenital stationary, type 1B|congenital stationary night blindness 1B|GRM6 congenital stationary night blindness|CSNB1B|autosomal recessive complete congenital stationary night blindness|CSNB, complete, autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|night blindness, congenital stationary, complete, autosomal recessive UMLS:C1850362|OMIM:257270|DOID:0110865 owl:Class GO:0051247 biolink:NamedThing positive regulation of protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpak2llvmy_mondo_relaxed.owl up regulation of protein metabolic process|upregulation of protein metabolic process|stimulation of protein metabolic process|positive regulation of protein metabolism|up-regulation of protein metabolic process|activation of protein metabolic process owl:Class GO:0051173 biolink:NamedThing positive regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl upregulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process|positive regulation of nitrogen metabolic process|stimulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|up regulation of nitrogen metabolic process|activation of nitrogen metabolic process owl:Class MONDO:0005498 biolink:NamedThing botulism A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. tmpak2llvmy_mondo_relaxed.owl foodborne botulism (subtype)|botulism|botulism poisoning|wound botulism (subtype)|foodborne botulism|infant botulism (subtype)|infection due to Clostridium botulinum|intoxication with Clostridium botulinum toxin|food poisoning due to Clostridium botulinum MedDRA:10006041|DOID:11976|NCIT:C84599|CSP:5000-0060|GARD:0000943|ICD10:A05.1|EFO:0005542|Orphanet:1267|SCTID:398565003|MESH:D001906|UMLS:C0006057 https://rarediseases.info.nih.gov/diseases/943/botulism owl:Class MONDO:0024388 biolink:NamedThing Clostridium infectious disease Infections with bacteria of the genus clostridium. tmpak2llvmy_mondo_relaxed.owl commensal Clostridium infection|infections, Clostridium|commensal infections, Clostridium|commensal infection, Clostridium|Clostridium infection|infection, Clostridium ICD9:040.89|SCTID:56688005|MESH:D003015|EFO:1000874 MONDO:0006707 owl:Class MONDO:0032705 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination tmpak2llvmy_mondo_relaxed.owl MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION|NEDMEHM Orphanet:597874|OMIM:618367 https://github.com/monarch-initiative/mondo/issues/3542 owl:Class MONDO:0017313 biolink:NamedThing disorder of folate metabolism and transport tmpak2llvmy_mondo_relaxed.owl Orphanet:285657|UMLS:CN227114 owl:Class MONDO:0008322 biolink:NamedThing pseudoachondroplasia Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. tmpak2llvmy_mondo_relaxed.owl pseudoachondroplasia|PSACH|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia ICD9:756.9|SCTID:22567005|NCIT:C118635|DOID:0080047|MESH:C535819|GARD:0004540|UMLS:C0410538|OMIM:177170|Orphanet:750|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia owl:Class MONDO:0005516 biolink:NamedThing osteochondrodysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. tmpak2llvmy_mondo_relaxed.owl congenital skeletal dysplasia|osteochondrodysplasia|osteochondrodysplasia syndrome|cartilage development disorder|congenital anomaly of cartilage|skeletal dysplasia EFO:0005571|SCTID:105985007|DOID:2256|ICD9:756.4|MESH:D010009|ICD10:Q78.9|GARD:0006051|UMLS:C0029422|NCIT:C84978 owl:Class MONDO:0054813 biolink:NamedThing Ehlers-Danlos syndrome, classic-like, 2 tmpak2llvmy_mondo_relaxed.owl EDSCLL2|Ehlers-Danlos syndrome, classic-like, 2 UMLS:CN248508|Orphanet:536532|OMIM:618000 owl:Class MONDO:0011344 biolink:NamedThing parotitis, juvenile recurrent tmpak2llvmy_mondo_relaxed.owl parotitis, juvenile recurrent UMLS:C1863691|MESH:C566359|OMIM:603588 owl:Class MONDO:0010755 biolink:NamedThing vesicoureteral reflux, X-linked tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux, X-linked|VURX MESH:C564042|UMLS:C1839114|OMIM:314550 owl:Class GO:0034651 biolink:NamedThing cortisol biosynthetic process The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpak2llvmy_mondo_relaxed.owl cortisol anabolism|cortisol biosynthesis|cortisol synthesis|cortisol formation owl:Class GO:0006704 biolink:NamedThing glucocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpak2llvmy_mondo_relaxed.owl glucocorticoid synthesis|glucocorticoid biosynthesis|glucocorticoid formation|glucocorticoid anabolism owl:Class MONDO:0006265 biolink:NamedThing laryngeal small cell carcinoma A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl laryngeal throat small cell cancer|small cell carcinoma of the larynx|laryngeal small cell carcinoma|larynx small cell carcinoma|small cell carcinoma of larynx NCIT:C6025|UMLS:C1334378|DOID:7144|EFO:1000320 owl:Class MONDO:0000402 biolink:NamedThing small cell carcinoma A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. tmpak2llvmy_mondo_relaxed.owl small cell carcinoma, intermediate cell|small cell NEC|small cell cancer|intermediate cell small cell carcinoma|oat cell carcinoma|small cell carcinoma, intermediate cell (morphologic abnormality)|oat cell cancer|small cell car. (extrapulmonary)|small cell carcinoma (extrapulmonary)|small cell neuroendocrine carcinoma|small cell carcinoma|small cell carcinoma - intermediate cell ICDO:8041/3|UMLS:C0334239|EFO:0008524|ICDO:8042/3|MESH:D018288|NCIT:C3915|SCTID:11010461000119101|DOID:0050685 owl:Class MONDO:0001447 biolink:NamedThing detrusor sphincter dyssynergia tmpak2llvmy_mondo_relaxed.owl detrusor sphincter dyssynergia (disease)|detrusor sphincter dyssynergia detrusor sphincter dyssynergia (disease) DOID:12145|HP:0025488|UMLS:C0341747|ICD9:596.55|SCTID:236655005 owl:Class MONDO:0006026 biolink:NamedThing urinary bladder disease A disease involving the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder disorder|urinary bladder disease or disorder|urinary bladder disorder|disease or disorder of urinary bladder|disorder of urinary bladder|urinary bladder disease|bladder disease|disease of urinary bladder EFO:1000018|MESH:D001745|ICD10:N32.9|NCIT:C2900|SCTID:42643001|ICD9:596.8|ICD9:596.9|DOID:365|UMLS:C0005686 owl:Class MONDO:0024653 biolink:NamedThing skull neoplasm A benign or malignant neoplasm that affects the bones and structures of the skull. tmpak2llvmy_mondo_relaxed.owl skull neoplasm|neoplasm of the skull|neoplasm of skull|tumor of skull|tumor of the skull|skull tumor NCIT:C3375|UMLS:C0037305|ICD9:239.2|SCTID:126538005 owl:Class MONDO:0005586 biolink:NamedThing head and neck neoplasm A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpak2llvmy_mondo_relaxed.owl craniocervical region neoplasm (disease)|craniocervical region neoplasm|head and neck neoplasm (excluding central nervous system)|neoplasm of head and neck|head and neck neoplasm|tumor of craniocervical region|tumor of the head and neck|neoplasm of craniocervical region|neoplasm of the head and neck|head and neck tumor|tumor of head and neck|craniocervical region tumor ICD9:239.89|SCTID:255055008|NCIT:C3077|UMLS:C0018671|EFO:0005950|ONCOTREE:HEADNECK owl:Class NCBITaxon:33317 biolink:NamedThing Protostomia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33213 biolink:NamedThing Bilateria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019925 biolink:NamedThing paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(21)pat|paternal uniparental disomy of chromosome type 21 SCTID:766720000|Orphanet:96195|ICD10:Q99.8 owl:Class MONDO:0020057 biolink:NamedThing uniparental disomy of paternal origin tmpak2llvmy_mondo_relaxed.owl SCTID:726402006|Orphanet:98154|ICD10:Q99.8 owl:Class MONDO:0006999 biolink:NamedThing tooth disease A disease involving the calcareous tooth. tmpak2llvmy_mondo_relaxed.owl disease or disorder of calcareous tooth|dental disorder|disease of calcareous tooth|calcareous tooth disease or disorder|disorder of calcareous tooth|calcareous tooth disease|tooth disorder UMLS:C0040435|MESH:D014076|DOID:1091|NCIT:C35077|EFO:1001216|SCTID:234947003 owl:Class MONDO:0005172 biolink:NamedThing skeletal system disease A disease involving the skeletal system. tmpak2llvmy_mondo_relaxed.owl osteoarthropathy|disease of skeletal system|disorder of skeletal system|skeletal system disease or disorder|skeletal system disease|disease of bone and/or joint|disease or disorder of skeletal system SCTID:88230002|EFO:0002461|UMLS:C0263661 owl:Class MONDO:0060507 biolink:NamedThing retinal dystrophy with or without macular staphyloma tmpak2llvmy_mondo_relaxed.owl retinal dystrophy with or without macular staphyloma|RDMS UMLS:C4479651|OMIM:617547 owl:Class MONDO:0015389 biolink:NamedThing supernumerary nostril Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. tmpak2llvmy_mondo_relaxed.owl accessory nostril|supernumerary naris UMLS:CN226671|ICD10:Q30.8|HP:0009934|Orphanet:141096|SCTID:719163006 owl:Class MONDO:0015503 biolink:NamedThing nose and cavum anomaly tmpak2llvmy_mondo_relaxed.owl ICD10:Q30.0|ICD10:Q30.2|ICD10:Q30.1|ICD10:Q30.9|ICD10:Q30.8|Orphanet:156246|ICD10:Q30.3 owl:Class UBERON:0007277 biolink:NamedThing presumptive hindbrain The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. tmpak2llvmy_mondo_relaxed.owl future hindbrain|presumptive rhombencephalon|embryonic rhombencephalon|rhombencephalon owl:Class MONDO:0016034 biolink:NamedThing cleft lip with or without cleft palate tmpak2llvmy_mondo_relaxed.owl Tessier cleft number 1,2 ICD10:Q37.2|ICD10:Q36.1|ICD10:Q37.0|ICD10:Q36.0|Orphanet:1991|ICD10:Q37.3|ICD10:Q37.4|ICD10:Q37.1|ICD10:Q37.9|ICD10:Q37.5|ICD10:Q37.8|ICD10:Q36.9 owl:Class MONDO:0016487 biolink:NamedThing beta-thalassemia intermedia Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. tmpak2llvmy_mondo_relaxed.owl MedDRA:10062923|SCTID:191189009|Orphanet:231222|ICD9:282.49|ICD10:D56.1 owl:Class MONDO:0013517 biolink:NamedThing beta-thalassemia HBB/LCRB Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. tmpak2llvmy_mondo_relaxed.owl beta-thalassemia SCDO:0000251|OMIM:613985 OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). owl:Class UBERON:0004822 biolink:NamedThing extrahepatic bile duct epithelium An epithelium that is part of a extrahepatic bile duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of extrahepatic bile duct|epithelium of extrahepatic bile duct|extrahepatic bile duct epithelial tissue owl:Class UBERON:0004820 biolink:NamedThing bile duct epithelium Any epithelium that lines one of the bile ducts. tmpak2llvmy_mondo_relaxed.owl epithelium of bile duct|biliary duct epithelium|epithelium of biliary duct owl:Class MONDO:0014976 biolink:NamedThing lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in MIPEP|COXPD31|MIPEP combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 31|combined oxidative phosphorylation deficiency 31 Orphanet:478049|UMLS:C4310661|DOID:0111488|OMIM:617228 owl:Class MONDO:0020225 biolink:NamedThing syndromic cataract A cataract (disease) that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic cataract (disease)|syndrome associated with cataract (disease) Orphanet:98641|UMLS:CN227829 owl:Class MONDO:0009929 biolink:NamedThing neonatal acute respiratory distress due to SP-B deficiency tmpak2llvmy_mondo_relaxed.owl interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|pulmonary alveolar proteinosis, congenital, 1|surfactant metabolism dysfunction, pulmonary, type 1|SMDP1|neonatal acute respiratory distress due to surfactant protein B deficiency|interstitial lung disease due to surfactant Protein B deficiency|pulmonary surfactant protein B, deficiency of|surfactant metabolism dysfunction, pulmonary, 1 OMIM:265120|UMLS:C1968602|Orphanet:217563|MESH:C566882|ICD10:P28.0|GARD:0004595 owl:Class MONDO:0008553 biolink:NamedThing platelet-type bleeding disorder 17 An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. tmpak2llvmy_mondo_relaxed.owl BDPLT17|thrombasthenia-thrombocytopenia, hereditary|bleeding disorder, platelet-type 17|platelet-type bleeding disorder 17|hereditary thrombasthenia-thrombocytopenia|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|GFI1B inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 17 NCIT:C142084|ICD10:D69.1|MESH:C566060|DOID:0111049|OMIM:187900 owl:Class MONDO:0023419 biolink:NamedThing hyperprolinemia Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. tmpak2llvmy_mondo_relaxed.owl hyperprolinemia type 1|proline oxidase deficiency|proline hydrogenase deficiency DOID:0080541|GARD:0002847|SCTID:59655002|ICD9:270.8|UMLS:C0268528 https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia owl:Class MONDO:0017355 biolink:NamedThing inborn disorder of proline metabolism An acquired metabolic disease that is has its basis in the disruption of proline metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of proline metabolism|inborn error of proline metabolic process|inborn proline metabolic process disorder|rare inborn error of proline metabolic process UMLS:CN227118|ICD10:E72.8|Orphanet:289866 owl:Class HGNC:17348 biolink:NamedThing PRPF3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001740 biolink:NamedThing cornea squamous cell carcinoma A rare squamous cell carcinoma that arises from the cornea. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of the cornea|epidermoid carcinoma of the cornea|cornea squamous cell carcinoma|cornea epidermoid carcinoma|corneal epidermoid carcinoma|epidermoid carcinoma of cornea|corneal squamous cell carcinoma|squamous cell carcinoma of cornea UMLS:C0346366|DOID:13538|SCTID:255008003|NCIT:C4552 owl:Class CL:1000409 biolink:NamedThing myocyte of sinoatrial node A muscle cell that is part of the sinoatrial node. tmpak2llvmy_mondo_relaxed.owl sinoatrial node cell|sinuatrial node myocyte|SA nodal myocyte|sinoatrial node myocyte|SA node cardiac muscle cell|myocyte of sinoatrial node FMA:67102 cell owl:Class CL:0002072 biolink:NamedThing nodal myocyte A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery. tmpak2llvmy_mondo_relaxed.owl P cell|pacemaker cell|myocytus nodalis|cardiac pacemaker cell FMA:67101|BTO:0004190 tmeehan 2010-06-29T11:41:37Z cell owl:Class MONDO:0001644 biolink:NamedThing acute proliferative glomerulonephritis Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. tmpak2llvmy_mondo_relaxed.owl proliferative glomerulonephritis, acute|post-streptococcal glomerulonephritis|acute glomerulonephritis with lesion of proliferative glomerulonephritis UMLS:C0341692|NCIT:C35443|SCTID:197579006|DOID:13138|ICD9:580.0 owl:Class MONDO:0020683 biolink:NamedThing acute disease Disease having a short and relatively severe course. tmpak2llvmy_mondo_relaxed.owl disease, acute|acute diseases|acute disease SCTID:2704003|MESH:D000208|UMLS:C0001314|ICD9:799.89 owl:Class MONDO:0020322 biolink:NamedThing acute biphenotypic leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl B- and T-cell mixed leukemia MESH:D015456|UMLS:C0023464|ICD10:C95.0|NCIT:C4673|DOID:9953|MedDRA:10067399|Orphanet:98837|ICD9:207.80|ICDO:9805/3|EFO:1000828|SCTID:278453007 owl:Class UBERON:0003368 biolink:NamedThing epithelium of hard palate An epithelium that is part of a hard palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hard palate epithelium|hard palate epithelial tissue|epithelial tissue of hard palate owl:Class UBERON:0003235 biolink:NamedThing epithelium of upper jaw An epithelium that is part of a upper jaw [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of palatoquadrate arch|epithelial tissue of upper jaw|upper jaw epithelium|palatoquadrate arch epithelium|epithelium of palatoquadrate arch|palatoquadrate arch epithelial tissue|upper jaw epithelial tissue owl:Class UBERON:0001295 biolink:NamedThing endometrium the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy tmpak2llvmy_mondo_relaxed.owl tunica mucosa uteri|tunica mucosa (endometrium)|uterine endometrium|uterine mucosa|uterine mucous membrane owl:Class UBERON:0019042 biolink:NamedThing reproductive system mucosa tmpak2llvmy_mondo_relaxed.owl genital mucosa owl:Class MONDO:0007093 biolink:NamedThing hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. tmpak2llvmy_mondo_relaxed.owl AI4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type 4|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|amelogenesis imperfecta type 4|AIHHT|amelogenesis imperfecta caused by mutation in DLX3|amelogenesis imperfecta, type IV Orphanet:100034|ICD10:K00.5|UMLS:C1863012|OMIM:104510|MESH:C566293|DOID:0110053 owl:Class MONDO:0019507 biolink:NamedThing amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. tmpak2llvmy_mondo_relaxed.owl MESH:D000567|ICD10:K00.5|OMIMPS:104500|GARD:0005791|CSP:0828-0533|ICD9:520.5|DOID:2187|SCTID:78494001|Orphanet:88661 https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta owl:Class MONDO:0015006 biolink:NamedThing generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex, generalized, with scarring and hair loss|epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH|EBSSH OMIM:617294|Orphanet:508529|UMLS:C4310631 owl:Class OBO:CP_0000000 biolink:NamedThing neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-05-25T01:36:34Z cell owl:Class GO:0005737 biolink:NamedThing cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018636 biolink:NamedThing autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome tmpak2llvmy_mondo_relaxed.owl TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|TPPII deficiency|Evans syndrome associated with primary immunodeficiency|triangle disease|tripeptidyl-peptidase II deficiency Orphanet:444463|ICD10:D61.0|UMLS:CN237691 owl:Class MONDO:0015709 biolink:NamedThing immunodeficiency syndrome with autoimmunity tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200213|Orphanet:169355 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency disease' MONDO_0021094 owl:Class GO:0099171 biolink:NamedThing presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33767 biolink:NamedThing cobalt group molecular entity tmpak2llvmy_mondo_relaxed.owl cobalt group molecular entity|cobalt group molecular entities owl:Class MONDO:0012101 biolink:NamedThing glaucoma 1, open angle, J tmpak2llvmy_mondo_relaxed.owl glaucoma, primary open angle, juvenile-onset, 2|GLC1J|JOAG1J|glaucoma 1, open angle, J|JOAG2 OMIM:608695|MESH:C563874|UMLS:C1837528 owl:Class MONDO:0020367 biolink:NamedThing juvenile open angle glaucoma Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. tmpak2llvmy_mondo_relaxed.owl pediatric glaucoma (disease)|JOAG|childhood glaucoma (disease)|glaucoma of childhood|glaucoma (disease) of childhood|juvenile glaucoma DOID:1068|SCTID:71111008|Orphanet:98977|ICD9:365.14|UMLS:C2981140|MedDRA:10064032 owl:Class MONDO:0010896 biolink:NamedThing pigment dispersion syndrome Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. tmpak2llvmy_mondo_relaxed.owl pigment-dispersion syndrome|pigment dispersion syndrome|GPDS1|glaucoma-RELATED pigment dispersion syndrome|glaucoma, pigment-dispersion type|glaucoma-related pigment dispersion syndrome|pigment-dispersion type glaucoma MESH:C563184|GARD:0004356|SCTID:392133001|UMLS:C1271398|OMIM:600510|DOID:0060680 https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome owl:Class GO:1903727 biolink:NamedThing positive regulation of phospholipid metabolic process Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process. tmpak2llvmy_mondo_relaxed.owl upregulation of phospholipid metabolic process|up-regulation of phospholipid metabolic process|activation of phospholipid metabolic process|up regulation of phospholipid metabolism|upregulation of phospholipid metabolism|up regulation of phospholipid metabolic process|up-regulation of phospholipid metabolism|activation of phospholipid metabolism|positive regulation of phospholipid metabolism owl:Class GO:0045937 biolink:NamedThing positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpak2llvmy_mondo_relaxed.owl up regulation of phosphate metabolic process|stimulation of phosphate metabolic process|up-regulation of phosphate metabolic process|positive regulation of phosphate metabolism|activation of phosphate metabolic process|upregulation of phosphate metabolic process owl:Class GO:0051098 biolink:NamedThing regulation of binding Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019942 biolink:NamedThing distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. tmpak2llvmy_mondo_relaxed.owl freeman-Sheldon syndrome variant|freeman-Sheldon syndrome|arthrogryposis multiplex congenita distal ICD10:Q68.8|DOID:0050646|SCTID:24269006|OMIMPS:108120|GARD:0000786|Orphanet:97120 https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis owl:Class MONDO:0015225 biolink:NamedThing arthrogryposis syndrome tmpak2llvmy_mondo_relaxed.owl arthrogryposis syndrome ICD10:Q68.8|Orphanet:109007 owl:Class GO:0002718 biolink:NamedThing regulation of cytokine production involved in immune response Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpak2llvmy_mondo_relaxed.owl regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response owl:Class GO:0001817 biolink:NamedThing regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine. tmpak2llvmy_mondo_relaxed.owl regulation of cytokine anabolism|regulation of cytokine formation|regulation of cytokine biosynthesis|regulation of cytokine secretion|regulation of cytokine synthesis|regulation of cytokine biosynthetic process owl:Class MONDO:0014160 biolink:NamedThing TCR-alpha-beta-positive T-cell deficiency A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta. tmpak2llvmy_mondo_relaxed.owl immunodeficiency 7, TCR-alpha/beta deficient|T-cell receptor-ALPHA/BETA deficiency|TCR-Alpha/Beta deficiency|immunodeficiency 7|IMD7|TCR-alpha-beta+ T-cell deficiency UMLS:C3809332|OMIM:615387|DOID:0111977|ICD10:D84.8|Orphanet:397959 owl:Class UBERON:4200230 biolink:NamedThing surface of bone An anatomical surface that is part of a bone. tmpak2llvmy_mondo_relaxed.owl bone surface owl:Class UBERON:0006984 biolink:NamedThing anatomical surface A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:119225 biolink:NamedThing Protomacleaya tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:190765 biolink:NamedThing Ochlerotatus tmpak2llvmy_mondo_relaxed.owl Ochlerotatus PMID:15264635|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100110 biolink:NamedThing adenovirus renal infection tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100338 biolink:NamedThing urinary tract infection tmpak2llvmy_mondo_relaxed.owl urinary tract infection (disease) urinary tract infection (disease) owl:Class MONDO:0019145 biolink:NamedThing hereditary thrombophilia due to congenital protein C deficiency Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. tmpak2llvmy_mondo_relaxed.owl autosomal recessive thrombophilia due to PC deficiency|hereditary thrombophilia due to PC deficiency|protein C deficiency|hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency disease|autosomal recessive thrombophilia due to congenital protein C deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency ICD10:D68.2|MESH:D020151|SCTID:76407009|NCIT:C99025|DOID:3756|MESH:C535424|Orphanet:745|ICD10:D68.59 owl:Class MONDO:0018384 biolink:NamedThing avascular necrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic avascular necrosis ICD10:M93.9|Orphanet:399388 owl:Class MONDO:0000532 biolink:NamedThing lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. tmpak2llvmy_mondo_relaxed.owl DOID:0050917 owl:Class MONDO:0003438 biolink:NamedThing combined small cell lung carcinoma A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. tmpak2llvmy_mondo_relaxed.owl mixed small cell and large cell carcinoma of the lung|combined type small cell carcinoma of lung|mixed small cell and large cell lung carcinoma|small cell and large cell carcinoma of the lung|combined small cell carcinoma of the lung|small cell and large cell lung carcinoma|CSCLC|mixed small cell and large cell carcinoma of lung|small cell and large cell carcinoma of lung|combined small and large cell lung carcinoma|combined small cell carcinoma of lung|combined small cell lung cancer|lung combined type small cell carcinoma|combined small cell lung carcinoma|combined small and large cell lung cancer|combined type small cell lung carcinoma|combined small cell and large cell lung carcinoma|combined type small cell carcinoma of the lung DOID:5421|NCIT:C9137|ONCOTREE:CSCLC|UMLS:C1333125|ICDO:8045/3 owl:Class GO:0016885 biolink:NamedThing ligase activity, forming carbon-carbon bonds Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016874 biolink:NamedThing ligase activity Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient. tmpak2llvmy_mondo_relaxed.owl synthetase activity owl:Class MONDO:0011492 biolink:NamedThing mandibulofacial dysostosis syndrome, Bauru type tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis syndrome, Bauru type UMLS:C1858101|MESH:C565744|OMIM:604830 owl:Class MONDO:0018551 biolink:NamedThing patent urachus Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. tmpak2llvmy_mondo_relaxed.owl patent urachus|patent urachus (disease) patent urachus (disease) ICD10:Q64.4|SCTID:398316009|UMLS:CN237552|Orphanet:431341|NCIT:C99005|HP:0010479 owl:Class MONDO:0018565 biolink:NamedThing congenital urachal anomaly Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. tmpak2llvmy_mondo_relaxed.owl Orphanet:435743 owl:Class UBERON:0018321 biolink:NamedThing foramen for glossopharyngeal nerve Foramen that allows the passge of the glossopharyngeal nerve (cranial nerve IX). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013685 biolink:NamedThing foramen of skull Anatomical space that is an opening in a bone of the skull. tmpak2llvmy_mondo_relaxed.owl cranial foramen|cranial conduit|foramina of the skull|foramen of skull owl:Class GO:0045910 biolink:NamedThing negative regulation of DNA recombination Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. tmpak2llvmy_mondo_relaxed.owl downregulation of DNA recombination|down regulation of DNA recombination|down-regulation of DNA recombination|inhibition of DNA recombination owl:Class HGNC:25535 biolink:NamedThing TMEM38B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001615 biolink:NamedThing epidemic keratoconjunctivitis Keratoconjunctivitis resulting from infection by adenoviruses. tmpak2llvmy_mondo_relaxed.owl shipyard eye|EKC ICD9:077.1|ICD10:B30.0|DOID:13014|SCTID:60548004|UMLS:C0014493|NCIT:C34590 owl:Class MONDO:0020831 biolink:NamedThing congenital vertebral-cardiac-renal anomalies syndrome tmpak2llvmy_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome|VCRL Orphanet:521438|OMIMPS:617660 owl:Class MONDO:0700084 biolink:NamedThing myopathy caused by varation in GMPPB Any myopathy in which the cause of the disease is a varation in the GMPPB gene. tmpak2llvmy_mondo_relaxed.owl GMPPB-related myopathy|myopathy caused by mutation in GMPPB http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:2384 biolink:NamedThing CRY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100361 biolink:NamedThing lip herpes simplex type 1 infectious disease Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis). tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0100359 biolink:NamedThing herpes simplex type 1 infectious disease A disease caused by infection with herpes simplex type 1. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0021069 biolink:NamedThing malignant endocrine neoplasm A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. tmpak2llvmy_mondo_relaxed.owl endocrine gland cancer|endocrine cancer|malignant tumor of the endocrine gland|malignant neoplasm of the endocrine gland|cancer of endocrine gland|malignant tumour of endocrine gland|neoplasm of endocrine system|malignant endocrine gland tumor|Endocrine tumor|malignant tumor of endocrine gland|endocrine neoplasm, malignant|endocrine neoplasm|malignant endocrine neoplasm|malignant neoplasm of endocrine gland|malignant endocrine tumor|malignant endocrine gland neoplasm NCIT:C3575|DOID:170|MESH:D004701|ICD10:C75.9|ICD9:194.9 owl:Class GO:0031987 biolink:NamedThing locomotion involved in locomotory behavior Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpak2llvmy_mondo_relaxed.owl locomotion during locomotory behaviour owl:Class GO:0040011 biolink:NamedThing locomotion Self-propelled movement of a cell or organism from one location to another. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013147 biolink:NamedThing dilated cardiomyopathy 1CC Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1CC|cardiomyopathy, dilated, type 1Cc|CMD1CC|familial isolated dilated cardiomyopathy caused by mutation in NEXN|cardiomyopathy, dilated, 1CC|NEXN familial isolated dilated cardiomyopathy ICD10:I42.0|DOID:0110424|OMIM:613122|UMLS:C2751084|MESH:C567733 owl:Class MONDO:0015470 biolink:NamedThing familial isolated dilated cardiomyopathy Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. tmpak2llvmy_mondo_relaxed.owl familial isolated dilated cardiomyopathy|familial or idiopathic dilated cardiomyopathy Orphanet:154|UMLS:CN199609|ICD10:I42.0 owl:Class CHEBI:33273 biolink:NamedThing polyatomic anion An anion consisting of more than one atom. tmpak2llvmy_mondo_relaxed.owl polyatomic anions owl:Class CHEBI:36358 biolink:NamedThing polyatomic ion An ion consisting of more than one atom. tmpak2llvmy_mondo_relaxed.owl polyatomic ions owl:Class GO:1905153 biolink:NamedThing regulation of membrane invagination Any process that modulates the frequency, rate or extent of membrane invagination. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018223 biolink:NamedThing systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. tmpak2llvmy_mondo_relaxed.owl systemic EBV-positive T-cell lymphoproliferative disorder of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV-positive T-cell lymphoma of childhood|systemic EBV-positive T-cell lymphoproliferative disease of childhood|systemic EBV+ T-cell LPD of childhood SCTID:721311006|DOID:0070324|ICD10CM:D47.9|NCIT:C80374|UMLS:CN204753|ICD10:D47.9|Orphanet:364033|ICDO:9724/3 owl:Class MONDO:0006921 biolink:NamedThing Actinomycetales infectious disease Infections with bacteria of the order actinomycetales. tmpak2llvmy_mondo_relaxed.owl actinomycetales disease or disorder|actinomycetales caused disease or disorder|infection caused by actinomycetales|infections, actinomycetales|actinomycetales infection|actinomycotic infection|infection, actinomycete|actinomycosis|actinomycetales infections|actinomycotic infectious disease|infections, actinomycete|actinomycete infections|infection, actinomycetales|actinomycete infection SCTID:721751007|NCIT:C84534|MESH:D000193|EFO:1001122|UMLS:C0001255|SCTID:11817007|ICD9:039.9|ICD9:039.8 owl:Class GO:2000257 biolink:NamedThing regulation of protein activation cascade Any process that modulates the frequency, rate or extent of protein activation cascade. tmpak2llvmy_mondo_relaxed.owl regulation of protein activitory cascade|regulation of protein activation pathway owl:Class MONDO:0012555 biolink:NamedThing Cornelia de Lange syndrome 3 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. tmpak2llvmy_mondo_relaxed.owl Cornelia DE Lange syndrome 3|Cornelia de Lange syndrome caused by mutation in SMC3|Cornelia De Lange syndrome type 3|CDLS3|SMC3 Cornelia de Lange syndrome|Cornelia de Lange syndrome 3|Cornelia de Lange syndrome caused by mutation in Smc3|Smc3 Cornelia de Lange syndrome OMIM:610759|DOID:0080507|UMLS:C1853099 owl:Class MONDO:0016033 biolink:NamedThing Cornelia de Lange syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. tmpak2llvmy_mondo_relaxed.owl Cornelia de Lange syndrome|De Lange syndrome|Brachmann-de Lange syndrome|CDLS|Brachmann de Lange syndrome UMLS:C0270972|NCIT:C75016|OMIMPS:122470|Orphanet:199|UMLS:CN239271|ICD10:Q87.1|MedDRA:10056354|DOID:11725|GARD:0010109 owl:Class MONDO:0010199 biolink:NamedThing white forelock with malformations White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. tmpak2llvmy_mondo_relaxed.owl white forelock with malformations GARD:0010081|MESH:C536700|SCTID:763619009|ICD10:Q87.8|UMLS:C1848463|OMIM:277740|Orphanet:2475 https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations owl:Class MONDO:0005267 biolink:NamedThing heart disease A disease involving the heart and/or pericardium. tmpak2llvmy_mondo_relaxed.owl disorder of heart/pericardium|heart/pericardial disease|disease or disorder of heart|disorder of heart|heart disorder|cardiac disease|heart/pericardial trouble|heart/pericardial disease or disorder|disease of heart|heart disease|heart disease or disorder|heart/pericardial disorder|heart trouble DOID:114|SCTID:56265001|ICD9:V47.2|MESH:D006331|UMLS:CN239852|NCIT:C3079|UMLS:CN236661|ICD9:429.9|ICD10:I51.9|EFO:0003777|UMLS:C0018799|ICD9:429.89 owl:Class MONDO:0008590 biolink:NamedThing tremor, hereditary essential, 1 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. tmpak2llvmy_mondo_relaxed.owl ETM1|tremor, hereditary essential, 1|tremor hereditary essential, 1|essential tremor caused by mutation in DRD3|FET1|DRD3 essential tremor|tremor, familial essential, 1|tremor familial essential, 1|tremor, hereditary essential, type 1 MESH:C536545|UMLS:C1860861|OMIM:190300|GARD:0005244|DOID:0111428 owl:Class MONDO:0003233 biolink:NamedThing essential tremor A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) tmpak2llvmy_mondo_relaxed.owl tremor, hereditary essential|shaky hand syndrome|benign essential tremor|essential hereditary tremor OMIMPS:190300|EFO:0003108|ICD10:G25.0|UMLS:C0270736|SCTID:609558009|DOID:4990|MESH:D020329|ICD9:333.1 owl:Class MONDO:0003598 biolink:NamedThing median nerve neuropathy Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). tmpak2llvmy_mondo_relaxed.owl median nerve palsy|peripheral neuropathy of median nerve|median neuropathy|median nerve peripheral neuropathy ICD10:G56.1|SCTID:397828008|MESH:D020423|ICD10:G56.10|ICD9:354.1|DOID:571 owl:Class MONDO:0001117 biolink:NamedThing methemoglobinemia An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. tmpak2llvmy_mondo_relaxed.owl methemoglobinemias ICD10:D74.9|MESH:D008708|UMLS:C0025637|SCTID:38959009|DOID:10783|ICD10:D74|NCIT:C34817|ICD9:289.7 owl:Class MONDO:0044348 biolink:NamedThing hemoglobinopathy tmpak2llvmy_mondo_relaxed.owl globin abnormality|hemoglobin disorder|hemoglobin disease|hemoglobinopathy SCTID:80141007|ICD9:282.7 owl:Class MONDO:0010183 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblF A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria and homocystinuria, cblF type|methylmalonic aciduria due to vitamin B12-release defect|methylmalonic aciduria and homocystinuria type cblF|cobalamin locus f variant|inherited methylmalonic acidemia and homocystinuria|cobalamin F disease|vitamin B12 lysosomal release defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|cblF defect|methylmalonic acidemia with homocystinuria type cblF|cblF methylmalonic acidemia and homocystinuria|lysosomal membrane cobalamin transporter deficiency|vitamin B12 storage disease|methylmalonic aciduria with homocystinuria, type cblF|cobalamin F defect|MAHCF|cobalamin F deficiency|methylmalonic acidemia and homocystinuria, cblF type|cobalamin, defect in lysosomal release of SCTID:80887004|ICD10:E72.1|Orphanet:79284|OMIM:277380|GARD:0003584|DOID:0050717|MESH:C564747 Editor note: TODO - relevant annotation from GO owl:Class MONDO:0016826 biolink:NamedThing methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). tmpak2llvmy_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic acidemia and homocystinemia|methylmalonic aciduria with homocystinuria Orphanet:26|GARD:0003579|MESH:C537359|ICD10:E71.1 https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria owl:Class MONDO:0008070 biolink:NamedThing nemaline myopathy 3 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy caused by mutation in ACTA1|myopathy, actin, congenital, with cores|nemaline myopathy type 3|NEM3|nemaline myopathy 3|nemaline myopathy 3, autosomal dominant or recessive|myopathy, actin, congenital, with Excess of thin myofilaments|ACTA1 nemaline myopathy|nemaline myopathy 3, with intranuclear rods MESH:C580202|OMIM:161800|SCTID:702349003|NCIT:C129870|UMLS:CN187050|DOID:0110927 owl:Class MONDO:0015738 biolink:NamedThing childhood-onset nemaline myopathy Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. tmpak2llvmy_mondo_relaxed.owl mild nemaline myopathy GARD:0007171|ICD10:G71.2|Orphanet:171439 https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy owl:Class MONDO:0013361 biolink:NamedThing congenital prothrombin deficiency Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. tmpak2llvmy_mondo_relaxed.owl Dysprothrombinemia|factor II deficiency|congenital prothrombin deficiency|prothrombin deficiency, congenital|hereditary prothrombin deficiency|hypoprothrombinemia|congenital factor II deficiency|factor 2 deficiency|prothrombin deficiency MESH:D007020|ICD9:286.3|Orphanet:325|ICD10:D68.2|GARD:0002235|SCTID:73975000|DOID:2235|OMIM:613679|NCIT:C131737|UMLS:C0020640 https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency owl:Class MONDO:0015722 biolink:NamedThing congenital vitamin K-dependent coagulation factors deficiency Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. tmpak2llvmy_mondo_relaxed.owl vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency OMIMPS:277450|ICD10:D68.2|Orphanet:169826 owl:Class MONDO:0002399 biolink:NamedThing tenosynovial giant cell tumor, localized type A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. tmpak2llvmy_mondo_relaxed.owl localized tenosynovial giant cell tumor|nodular tenosynovitis|benign synovioma|localized giant cell tumor of the Tenosynovium|benign tumor of synovium|localized giant cell neoplasm of Tenosynovium|localized giant cell neoplasm of the Tenosynovium|synovioma, benign (morphologic abnormality)|tenosynovial giant cell tumor, localized type|localized giant cell neoplasm of tendon sheath|localized tenosynovial giant cell neoplasm|localized giant cell tumor of Tenosynovium|localized giant cell tumor of tendon sheath DOID:2701|ICD9:727.02|UMLS:C0588125|NCIT:C6532|SCTID:95413004 owl:Class MONDO:0002522 biolink:NamedThing tenosynovial giant cell tumor A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. tmpak2llvmy_mondo_relaxed.owl tendon sheath giant cell neoplasm|giant cell tumor of Tenosynovium|giant cell neoplasm of Tenosynovium|giant cell neoplasm of tendon sheath|giant cell tumor of tendon sheath|fibrous histiocytoma of tendon sheath|tendon sheath giant cell tumor|giant cell neoplasm of the Tenosynovium|tenosynovial giant cell tumor|giant cell tumor of the Tenosynovium|tenosynovial giant cell neoplasm ICDO:9252/0|SCTID:310605004|ICD9:727.02|UMLS:C1318543|EFO:1000562|ICD9:727.89|NCIT:C3402|DOID:314 owl:Class MONDO:0044641 biolink:NamedThing 9q33.3q34.11 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 9q33.3-q34.11|9q33.3-q34.11 microdeletion syndrome|deletion 9q33.3q34.11|monosomy 9q33.3q34.11|Del(9)(q33.3q34.11) Orphanet:495818 owl:Class MONDO:0020274 biolink:NamedThing onycho-patellar syndrome with eye involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN207079|Orphanet:98704 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: genodermatosis with ocular features' MONDO_0020266 owl:Class UBERON:0001202 biolink:NamedThing pyloric sphincter A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. tmpak2llvmy_mondo_relaxed.owl pyloric valve owl:Class UBERON:0011185 biolink:NamedThing gastrointestinal sphincter A sphincter muscle that is part of the gastrointestinal system tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002326 biolink:NamedThing alcohol-induced mental disorder tmpak2llvmy_mondo_relaxed.owl DOID:251|ICD9:291.8|ICD9:291.89 owl:Class MONDO:0005084 biolink:NamedThing mental disorder A disease that has its basis in the disruption of mental process. tmpak2llvmy_mondo_relaxed.owl mental process disease|mental or behavioural disorder|disorder of mental process EFO:0000677|ICD9:V11.9|ICD10:F00.F99|SCTID:74732009|NIFSTD:birnlex_12669|ICD9:298.8|ICD9:290-299.99|UMLS:CN240636 owl:Class MONDO:0016354 biolink:NamedThing xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). tmpak2llvmy_mondo_relaxed.owl XP/CS complex ICD10:Q82.1|UMLS:CN201205|Orphanet:220295|ICD10:Q87.1 owl:Class MONDO:0001626 biolink:NamedThing traumatic glaucoma tmpak2llvmy_mondo_relaxed.owl glaucoma associated with ocular trauma ICD9:365.65|DOID:13060|UMLS:C0339594|SCTID:68241007 owl:Class MONDO:0005041 biolink:NamedThing glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. tmpak2llvmy_mondo_relaxed.owl glaucoma (disease)|glaucoma glaucoma (disease) ICD10:H40.9|NCIT:C26782|ICD10:H40-H42|UMLS:C0017601|DOID:1686|ICD10:H40|ICD9:365.89|HP:0000501|EFO:0000516|MESH:D005901|ICD10:H40.H42|SCTID:23986001|ICD9:365.9|ICD9:365 owl:Class MONDO:0017394 biolink:NamedThing ketamine-induced biliary dilatation Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. tmpak2llvmy_mondo_relaxed.owl UMLS:C4512018|SCTID:726613003|UMLS:CN227122|Orphanet:293807 owl:Class MONDO:0029000 biolink:NamedThing poisoning A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. tmpak2llvmy_mondo_relaxed.owl Poisonings|intoxication|poisoning syndrome UMLS:C0302332|SCTID:75478009|EFO:0008546|MESH:D011041 owl:Class MONDO:0036696 biolink:NamedThing spleen neoplasm A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl neoplasm of spleen|tumor of spleen|splenic neoplasm|spleen tumor NCIT:C3383|GARD:0007683 owl:Class MONDO:0021223 biolink:NamedThing digestive system neoplasm A neoplasm (disease) that involves the digestive system. tmpak2llvmy_mondo_relaxed.owl gastrointestinal tumor|GI tumor|digestive system tumor|gastrointestinal system neoplasm|neoplasm of the digestive system|GI system neoplasm|GI neoplasm|tumor of GI system|tumor of the GI system|digestive system neoplasm (disease)|digestive tumor|neoplasm of the gastrointestinal system|tumor of gastrointestinal system|neoplasm of GI system|gastrointestinal neoplasm|tumor of the digestive system|neoplasm of digestive system|tumor of digestive system|GI system tumor|neoplasm of the GI system|gastrointestinal system tumor|tumor of the gastrointestinal system|neoplasm of gastrointestinal system|digestive neoplasm MESH:D005770|EFO:0008549|NCIT:C3052 owl:Class MONDO:0036779 biolink:NamedThing axillary neoplasm A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes. tmpak2llvmy_mondo_relaxed.owl axillary neoplasm|tumor of axilla|neoplasm of axilla|axilla tumor|axilla neoplasm UMLS:C1290308|SCTID:126639006|NCIT:C35749 owl:Class MONDO:0016526 biolink:NamedThing trisomy 9p Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. tmpak2llvmy_mondo_relaxed.owl trisomy type 9p|Duplication 9p|trisomy of the short arm of chromosome 9|Duplication of the short arm of chromosome 9 UMLS:C0265428|Orphanet:236|ICD10:Q92.2 owl:Class MONDO:0016946 biolink:NamedThing partial trisomy of the short arm of chromosome 9 Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. tmpak2llvmy_mondo_relaxed.owl chromosome 9p duplication|trisomy 9p|partial duplication of chromosome 9p|partial duplication of the short arm of chromosome 9|9p duplication|partial trisomy of chromosome 9p|Duplication 9p|partial trisomy of the short arm of chromosome type 9|partial trisomy 9p|9p trisomy GARD:0005364|Orphanet:262767 owl:Class MONDO:0012287 biolink:NamedThing Stickler syndrome, type I, nonsyndromic ocular tmpak2llvmy_mondo_relaxed.owl Stickler syndrome, type i, nonsyndromic ocular|rhegmatogenous retinal detachment, autosomal dominant|Stickler syndrome, atypical|Stickler syndrome, type I, predominantly ocular OMIM:609508|UMLS:C1836080 Editor note: check this owl:Class MONDO:0007160 biolink:NamedThing Stickler syndrome type 1 tmpak2llvmy_mondo_relaxed.owl Stickler syndrome, vitreous type 1|Stickler syndrome, membranous vitreous type|Stickler syndrome, type 1|Stickler syndrome type 1|STL1|Stickler syndrome, type I|arthroophthalmopathy, hereditary progressive GARD:0005018|OMIM:108300|MESH:C537492|Orphanet:90653|ICD10:Q87.5 owl:Class MONDO:0014614 biolink:NamedThing congenital stationary night blindness 1G A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. tmpak2llvmy_mondo_relaxed.owl CSNB1G|congenital stationary night blindness type 1G|night blindness, congenital stationary, type 1G DOID:0110714|OMIM:616389|UMLS:C4225345 owl:Class HGNC:10959 biolink:NamedThing SLCO1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012653 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal dominant tmpak2llvmy_mondo_relaxed.owl persistent hyperplastic primary vitreous, autosomal dominant|PHPVAD OMIM:611308|UMLS:C1969784 owl:Class MONDO:0019631 biolink:NamedThing persistent hyperplastic primary vitreous A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) tmpak2llvmy_mondo_relaxed.owl PHPV|non-syndromic congenital retinal non-attachment|PFVS|congenital retinal detachment|ncRNA disease|persistent fetal vasculature syndrome DOID:0060282|ICD10:Q14.0|MESH:D054514|OMIMPS:221900|Orphanet:91495|SCTID:314270008 owl:Class GO:0009110 biolink:NamedThing vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl vitamin anabolism|vitamin formation|vitamin synthesis|vitamin biosynthesis owl:Class GO:0044249 biolink:NamedThing cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular anabolism|cellular formation|cellular synthesis|cellular biosynthesis owl:Class UBERON:0001174 biolink:NamedThing common bile duct the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct tmpak2llvmy_mondo_relaxed.owl ductus choledochus|ductus choledochus (biliaris) owl:Class UBERON:0003703 biolink:NamedThing extrahepatic bile duct Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. tmpak2llvmy_mondo_relaxed.owl extrahepatic biliary system|bile duct extrahepatic part owl:Class UBERON:0013694 biolink:NamedThing brain endothelium Vascular endothelium found in blood vessels of the blood-brain-barrier. tmpak2llvmy_mondo_relaxed.owl cerebromicrovascular endothelium owl:Class MONDO:0018494 biolink:NamedThing microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237496|ICD10:Q87.1|Orphanet:423306 owl:Class MONDO:0012467 biolink:NamedThing cold-induced sweating syndrome 2 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. tmpak2llvmy_mondo_relaxed.owl CLCF1 cold-induced sweating syndrome|cold-induced sweating syndrome type 2|CISS2|CRISPONI/cold-induced sweating syndrome 2|cold-induced sweating syndrome caused by mutation in CLCF1|cold-induced sweating syndrome 2|Crisponi/cold-induced sweating syndrome 2 UMLS:C1853198|DOID:0080330|OMIM:610313|MESH:C564791 owl:Class MONDO:0015526 biolink:NamedThing cold-induced sweating syndrome Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. tmpak2llvmy_mondo_relaxed.owl CISS|Sohar-Crisponi syndrome OMIMPS:272430|UMLS:CN043579|DOID:0060294|ICD10:G90.8|Orphanet:157820|SCTID:702363009 owl:Class MONDO:0013763 biolink:NamedThing Joubert syndrome 15 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 12/15, digenic|Joubert syndrome 9/15, digenic|Joubert syndrome type 15|Joubert syndrome 15|JBTS15|CEP41 Joubert syndrome|Joubert syndrome caused by mutation in CEP41 OMIM:614464|UMLS:C3280897|DOID:0110984 owl:Class MONDO:0022410 biolink:NamedThing retinal ciliopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:156165 owl:Class MONDO:0003367 biolink:NamedThing gastric leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl stomach leiomyosarcoma|leiomyosarcoma of stomach|gastric leiomyosarcoma (disease)|gastric leiomyosarcoma gastric leiomyosarcoma (disease) HP:0031025|UMLS:C0744295|SCTID:447785000|DOID:5280|NCIT:C27200 owl:Class MONDO:0001056 biolink:NamedThing gastric cancer A primary or metastatic malignant neoplasm involving the stomach. tmpak2llvmy_mondo_relaxed.owl ca greater curvature of stomach|malignant neoplasm of stomach|stomach cancer|gastric cancer, intestinal|gastric neoplasm|malignant gastric neoplasm|cancer of stomach|gastric cancer|Ca body - stomach|malignant tumor of body of stomach|malignant tumor of lesser curve of stomach|malignant tumor of the stomach|malignant neoplasm of the stomach|malignant tumor of stomach|malignant tumor of greater curve of stomach|malignant stomach neoplasm|malignant neoplasm of body of stomach|malignant neoplasm of lesser curve of stomach|malignant gastric tumor|Ca lesser curvature - stomach ICD10:C16.2|ICD10:C16.9|ICD10:C16.6|ICD9:151|NCIT:C9331|GARD:0007704|ICD10:C16|ICD10:C16.5|ICD9:151.9|ICD9:151.5|ICD9:151.6|ICD9:151.4|DOID:10534|OMIM:613659 owl:Class UBERON:0002242 biolink:NamedThing nucleus pulposus the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord tmpak2llvmy_mondo_relaxed.owl nucleus pulposus of intervertebral disk|pulpy nucleus|nucleus propulsus|nucleus pulposus (diskus intervertebralis)|nucleus propulsus of intervertebral disk owl:Class MONDO:0056819 biolink:NamedThing nasal cavity and paranasal sinus carcinoma A carcinoma arising from the nasal cavity or paranasal sinuses. tmpak2llvmy_mondo_relaxed.owl nasal cavity and paranasal sinus cancer|nasal cavity and paranasal sinus carcinoma|sinonasal carcinoma|paranasal sinus and nasal cavity cancer NCIT:C54293|GARD:0007650|UMLS:C1710095 Editor note: TODO add uberon term owl:Class MONDO:0021079 biolink:NamedThing childhood neoplasm A benign or malignant neoplasm arising during childhood. tmpak2llvmy_mondo_relaxed.owl childhood tumor|pediatric neoplasm|pediatric neoplasm (disease)|childhood neoplasm|childhood neoplasm (disease)|neoplasm (disease) of childhood|pediatric tumor NCIT:C6283 owl:Class MONDO:0011636 biolink:NamedThing Diamond-Blackfan anemia 2 tmpak2llvmy_mondo_relaxed.owl anemia Diamond-Blackfan 2|Diamond-Blackfan anemia 2|DBA2|Diamond-Blackfan Anemia, 2 MESH:C536130|UMLS:C1853666|GARD:0008283|OMIM:606129 https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2 owl:Class UBERON:0011861 biolink:NamedThing aorta collagen fibril The connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000118 biolink:NamedThing Phenotypic abnormality A phenotypic abnormality. tmpak2llvmy_mondo_relaxed.owl Organ abnormality UMLS:C4021819 This is the root of the phenotypic abnormality subontology of the HPO. human_phenotype owl:Class HP:0000001 biolink:NamedThing All tmpak2llvmy_mondo_relaxed.owl UMLS:C0444868 Root of all terms in the Human Phenotype Ontology. human_phenotype owl:Class MONDO:0020070 biolink:NamedThing neonatal epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:G40.4|UMLS:CN206974|Orphanet:98257 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0015650 biolink:NamedThing epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl syndromic epilepsy|epileptic syndrome Orphanet:166463 owl:Class CL:0000540 biolink:NamedThing neuron The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpak2llvmy_mondo_relaxed.owl nerve cell WBbt:0003679|BTO:0000938|VHOG:0001483|CALOHA:TS-0683|FBbt:00005106|FMA:54527 These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. cell owl:Class CL:0002319 biolink:NamedThing neural cell A cell that is part of the nervous system. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-2040|FMA:70333 tmeehan 2010-09-15T01:34:57Z cell owl:Class HGNC:3776 biolink:NamedThing AFF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003177 biolink:NamedThing prostate adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the prostate gland. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of the prostate|prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of prostate|prostate adenoid cystic carcinoma DOID:4868|UMLS:C1335502|NCIT:C5539 owl:Class MONDO:0005082 biolink:NamedThing prostate adenocarcinoma A carcinoma that arises from glandular epithelial cells of the prostate gland tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of prostate|prostate gland adenocarcinoma|prostate adenocarcinoma|prad|adenocarcinoma of the prostate EFO:0000673|NCIT:C2919|DOID:2526|SCTID:399490008|UMLS:C0007112|ONCOTREE:PRAD owl:Class CL:0002265 biolink:NamedThing type D cell of colon A D cell located in the colon. tmpak2llvmy_mondo_relaxed.owl colonic delta cell|colon D-cell|delta cell of colon FMA:268744 tmeehan 2010-09-10T11:37:35Z cell owl:Class CL:1001516 biolink:NamedThing intestinal enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract. tmpak2llvmy_mondo_relaxed.owl cl owl:Class MONDO:0004673 biolink:NamedThing lower lip cancer A malignant neoplasm involving the lower lip. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lower lip|cancer of lower lip|lower lip cancer|malignant lower lip neoplasm UMLS:C0432520|ICD9:140.1|ICD10:C00.1|SCTID:363373004|DOID:8883 owl:Class MONDO:0006834 biolink:NamedThing lip cancer A primary or metastatic malignant neoplasm involving the lip. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of external Lip, not specified as upper or lower|malignant neoplasm of commissure of lip|malignant neoplasm of labial commissure of lip|malignant neoplasm of lower lip, oral aspect|cancer of lip|malignant neoplasm of other sites of lip|malignant Lip neoplasm|malignant tumor of Lip|malignant neoplasm of lip, external|malignant neoplasm of vermilion border of lip|malignant neoplasm of lip, unspecified|malignant lip neoplasm|malignant neoplasm of Lip|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant Lip tumor|malignant tumor of the Lip|malignant neoplasm of lower lip, mucosa|malignant tumour of labial commissure|malignant tumor of labial mucosa|malignant neoplasm of lower lip, inner aspect|malignant neoplasm of lip, vermilion border|malignant neoplasm of lip|malignant neoplasm of the Lip|malignant neoplasm of lip, unspecified, vermilion border|malignant tumor of lower labial mucosa|lip cancer|malignant neoplasm of lip, inner aspect|malignant neoplasm of lip, unspecified, inner aspect|malignant tumour of lip|malignant tumor of commissure of lip|malignant neoplasm of lower lip, buccal aspect ICD9:140|MedDRA:10007089|DOID:8564|ICD9:140.6|MESH:D008048|ICD10:C00|SCTID:187622006|ICD9:140.5|NCIT:C7485|EFO:1001019|ICD10:C00.9|ICD9:140.8 owl:Class UBERON:0011830 biolink:NamedThing duct of lesser vestibular gland A duct that is part of a minor vestibular gland. tmpak2llvmy_mondo_relaxed.owl lesser vestibular gland duct owl:Class UBERON:0000058 biolink:NamedThing duct A tubular structure that transports secreted or excreted substances. tmpak2llvmy_mondo_relaxed.owl ducts|anatomical duct|exocrine gland duct|exocrine duct owl:Class HGNC:32456 biolink:NamedThing ALG11 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100765 biolink:NamedThing Abnormality of the tonsils An abnormality of the tonsils. tmpak2llvmy_mondo_relaxed.owl UMLS:C4021975 doelkens 2011-06-07T10:43:35Z human_phenotype owl:Class HP:0100763 biolink:NamedThing Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. tmpak2llvmy_mondo_relaxed.owl Lymphatic disease SNOMEDCT_US:362971004|UMLS:C4021976|MSH:D008206|SNOMEDCT_US:3305006|UMLS:C0024228|SNOMEDCT_US:111590001|SNOMEDCT_US:234087005 doelkens 2011-06-07T10:40:36Z HP:0003012 human_phenotype owl:Class MONDO:0017991 biolink:NamedThing Takayasu arteritis Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. tmpak2llvmy_mondo_relaxed.owl Takayasu disease|TA|pulseless disease|aortic arch arteritis|Young female arteritis|Takayasu's arteritis|idiopathic aortitis|aortic Arch syndrome|Takayasu's disease|Takayasu arteritis|pharyngeal arch artery syndromic disease ICD10:M31.4|MedDRA:10043097|ICD9:446.7|UMLS:C0039263|MESH:D013625|DOID:2508|SCTID:239937004|OMIM:207600|Orphanet:3287|EFO:1001857|NCIT:C35062|GARD:0007730|NCIT:C34391 owl:Class MONDO:0015488 biolink:NamedThing predominantly large-vessel vasculitis tmpak2llvmy_mondo_relaxed.owl Orphanet:156140 owl:Class GO:0090030 biolink:NamedThing regulation of steroid hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050810 biolink:NamedThing regulation of steroid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl regulation of steroid anabolism|regulation of steroid synthesis|regulation of steroid formation|regulation of steroid biosynthesis|regulation of steroidogenesis owl:Class GO:0001553 biolink:NamedThing luteinization The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. tmpak2llvmy_mondo_relaxed.owl luteal phase owl:Class GO:0022602 biolink:NamedThing ovulation cycle process A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpak2llvmy_mondo_relaxed.owl estrous cycle process|menstrual cycle process owl:Class FOODON:00001002 biolink:NamedThing food product A substance, usually composed primarily of carbohydrates, fats, water and/or proteins, that can be eaten or drunk by an animal or human being for nutrition or pleasure.|Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000237 biolink:NamedThing keratinizing barrier epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000240 biolink:NamedThing stratified squamous epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0100138 biolink:NamedThing X-linked recessive mitochondrial myopathy A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. tmpak2llvmy_mondo_relaxed.owl X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features owl:Class MONDO:0020605 biolink:NamedThing X-linked recessive disease X-linked recessive form of disease. tmpak2llvmy_mondo_relaxed.owl DOID:0080012 owl:Class UBERON:0014542 biolink:NamedThing cervical division of cord spinal central canal Part of central canal contained within the cervical spinal cord. It is continuous caudally with the thoracic spinal cord central canal and rostrally with the fourth ventricle of the brain via the obex tmpak2llvmy_mondo_relaxed.owl cervical spinal cord central canal owl:Class UBERON:0014538 biolink:NamedThing subdivision of spinal cord central canal A subdivision of the central canal of the spinal cord along its anterior-posterior axis. This is typically subdivided into cervical, thoracic, lumbar and sacral segments tmpak2llvmy_mondo_relaxed.owl regional part of spinal cord central canal owl:Class MONDO:0006780 biolink:NamedThing heartwater disease A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. tmpak2llvmy_mondo_relaxed.owl disease, heartwater MESH:D006357|UMLS:C0018835|EFO:1000960 owl:Class MONDO:0016003 biolink:NamedThing ehrlichiosis Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). tmpak2llvmy_mondo_relaxed.owl human ehrlichiosis MESH:D016873|ICD10:A48.8|ICD10:A77.40|ICD10:A77.4|DOID:10242|ICD9:082.40|UMLS:C0085399|ICD9:082.4|SCTID:240626005|GARD:0002092|Orphanet:1902 owl:Class GO:0031424 biolink:NamedThing keratinization The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002434 biolink:NamedThing oculomotor nerve cancer A cancer involving a oculomotor nerve. tmpak2llvmy_mondo_relaxed.owl malignant oculomotor nerve tumor|malignant oculomotor nerve neoplasm|malignant neoplasm of oculomotor nerve|oculomotor nerve neoplasm, malignant|primary malignant neoplasm of oculomotor nerve|IIIrd cranial nerve neoplasm, malignant|oculomotor nerve cancer|cancer of oculomotor nerve DOID:2816|NCIT:C6995|UMLS:C0686417|SCTID:93929003 owl:Class MONDO:0002435 biolink:NamedThing oculomotor nerve neoplasm A neoplasm involving a oculomotor nerve. tmpak2llvmy_mondo_relaxed.owl tumor of oculomotor nerve|IIIrd cranial nerve tumor|oculomotor nerve tumor|oculomotor nerve neoplasm|oculomotor nerve neoplasm (disease)|neoplasm of oculomotor nerve|cranial nerve III tumor SCTID:126969002|ICD9:239.7|DOID:2817|NCIT:C6994|UMLS:C1263895 owl:Class MONDO:0010410 biolink:NamedThing alopecia, androgenetic, 2 tmpak2llvmy_mondo_relaxed.owl AGA2|alopecia, androgenetic, 2 OMIM:300710|MESH:C567473|UMLS:C2678038 owl:Class MONDO:0005339 biolink:NamedThing androgenetic alopecia tmpak2llvmy_mondo_relaxed.owl male pattern baldness|alopecia androgenetica, male pattern baldness|androgenetic alopecia|androgenic alopecia ICD9:704.09|EFO:0004191|GARD:0009269|SCTID:87872006|DOID:0050801 owl:Class MONDO:0004690 biolink:NamedThing tonsillar fossa cancer A cancer involving a tonsillar fossa. tmpak2llvmy_mondo_relaxed.owl malignant tonsillar fossa neoplasm|malignant tumor of tonsillar fossa|malignant neoplasm of tonsillar fossa|cancer of tonsillar fossa|tonsillar fossa cancer SCTID:363394001|ICD10:C09.0|ICD9:146.1|DOID:8969|UMLS:C0153384 owl:Class MONDO:0006998 biolink:NamedThing tonsil cancer A primary or metastatic malignant neoplasm that affects the tonsil. tmpak2llvmy_mondo_relaxed.owl malignant tonsil neoplasm|cancer of tonsil|malignant tonsillar neoplasm|malignant neoplasm of tonsil|malignant tumor of tonsil|malignant tonsil tumor|malignant tonsillar tumor|malignant neoplasm of the tonsil|malignant neoplasm of palatine tonsil|malignant tumor of the tonsil|tonsil cancer|malignant neoplasm of faucial tonsil|malignant neoplasm of tonsil, faucial MedDRA:10044002|NCIT:C7404|EFO:1001214|ICD10:C09|UMLS:C0751560|SCTID:363393007|DOID:8858|ICD10:C09.9|MESH:D014067|ICD9:146.0 owl:Class MONDO:0004788 biolink:NamedThing cervix squamous papilloma A papilloma that arises from the squamous epithelium of the cervix. tmpak2llvmy_mondo_relaxed.owl cervix uteri squamous papilloma|uterine cervix squamous papilloma|squamous papilloma of uterine cervix|squamous papilloma of cervix|squamous papilloma of the cervix|squamous papilloma of cervix uteri|cervix squamous papilloma|squamous papilloma of the cervix uteri|cervical squamous papilloma|squamous papilloma of the uterine cervix NCIT:C6342|DOID:9445|UMLS:C1336900 owl:Class MONDO:0001825 biolink:NamedThing squamous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva. tmpak2llvmy_mondo_relaxed.owl keratotic papilloma|epidermoid papilloma|squamous papilloma|squamous cell papilloma|epidermoid cell papilloma|papilloma, squamous cell, benign|squamous cell papilloma (morphologic abnormality) DOID:139|NCIT:C3712|EFO:1001970|ICDO:8052/0|UMLS:C0205874 owl:Class UBERON:0010679 biolink:NamedThing manual digit 5 phalanx cartilage element A cartilage element that is part of a manual digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl manual digit V phalanx cartilage element|hand digit 5 phalanx cartilage element|fore limb digit 5 phalanx cartilage condensation owl:Class UBERON:0015029 biolink:NamedThing manual digit 5 phalanx endochondral element A manual digit 5 phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit V phalanx endochondral element|manual digit 5 phalanx element|manual digit 5 phalanx skeletal element owl:Class MONDO:0017025 biolink:NamedThing Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl Langerhans cell granulomatosis specific to childhood|histiocytosis X specific to childhood|childhood Langerhans cell histiocytosis|Langerhans cell histiocytosis NCIT:C114483|UMLS:C3899655|Orphanet:264724 owl:Class MONDO:0017020 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a systemic disease tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic disease 2022-03-01 UMLS:CN202333|Orphanet:264699 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class HP:0012503 biolink:NamedThing Abnormality of the pituitary gland An anomaly of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl disorder of pituitary gland MSH:D010900|UMLS:C0032002|SNOMEDCT_US:399244003 peter 2013-11-30T09:34:21Z human_phenotype owl:Class HP:0012443 biolink:NamedThing Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of brain|Abnormality of the brain UMLS:C4021085 peter 2013-11-23T02:38:00Z human_phenotype owl:Class NCBITaxon:71583 biolink:NamedThing Balantidiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33833 biolink:NamedThing Vestibuliferida tmpak2llvmy_mondo_relaxed.owl Vestibulifera GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002919 biolink:NamedThing posterior cranial fossa meningioma A meningioma that affects the posterior cranial fossa. tmpak2llvmy_mondo_relaxed.owl meningioma of the posterior cranial fossa|meningioma of posterior cranial fossa|posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa NCIT:C6775|DOID:4211|UMLS:C1335448 owl:Class UBERON:0000998 biolink:NamedThing seminal vesicle Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. tmpak2llvmy_mondo_relaxed.owl glandula seminalis|vesiculæ seminales|vesicula seminalis|vesicular gland|glandula vesiculosa|vesiculae seminales|vesicular glands|vas efferens|vesicular seminalis|gonecyst|seminal gland owl:Class CHEBI:65256 biolink:NamedThing antimicrobial food preservative A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). tmpak2llvmy_mondo_relaxed.owl antimicrobial preservatives|antimicrobial preservative|antimicrobial food preservatives owl:Class CHEBI:33281 biolink:NamedThing antimicrobial agent A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. tmpak2llvmy_mondo_relaxed.owl antimicrobial|microbicides|microbicide|antibiotic|antibiotique|antimicrobial agents|Antibiotikum|antibiotics|Antibiotika|antimicrobials owl:Class MONDO:0011542 biolink:NamedThing psoriasis 6, susceptibility to tmpak2llvmy_mondo_relaxed.owl PSORS6|psoriasis 6, susceptibility to OMIM:605364|DOID:0111290 owl:Class MONDO:0005083 biolink:NamedThing psoriasis An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. tmpak2llvmy_mondo_relaxed.owl ICD10:L40|ICD9:696.1|MESH:D011565|ICD10:L40.9|OMIMPS:177900|ICD9:696.5|SCTID:9014002|GARD:0010262|UMLS:C0033860|NCIT:C3346|ICD9:696.8|DOID:8893|EFO:0000676|ICD9:696 owl:Class GO:0007611 biolink:NamedThing learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050890 biolink:NamedThing cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017937 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain tmpak2llvmy_mondo_relaxed.owl ICD10:G60.0|UMLS:CN204081|Orphanet:324585 owl:Class MONDO:0019548 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. tmpak2llvmy_mondo_relaxed.owl autosomal dominant intermediate Charcot-Marie-Tooth disease|CMTDI|intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth Orphanet:90114|ICD10:G60.0|GARD:0012436|UMLS:CN206376 owl:Class UBERON:0014621 biolink:NamedThing cervical spinal cord ventral horn A ventral horn of spinal cord that is part of a cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cervical spinal cord ventral horn|cervical spinal cord anterior horn owl:Class UBERON:0002257 biolink:NamedThing ventral horn of spinal cord The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO]. tmpak2llvmy_mondo_relaxed.owl anterior column|columna grisea anterior medullae spinalis|ventral horn spinal cord|anterior column of the spinal cord|spinal cord anterior horn|cornu anterius medullae spinalis|ventral horns spinal cord|anterior grey column of spinal cord|ventral spinal cord|ventral grey horn|ventral region of spinal cord|ventral grey column of spinal cord|ventral gray column of spinal cord|ventral gray matter of spinal cord|anterior gray column of spinal cord|anterior horn|ventral horn of the spinal cord|spinal cord ventral horn|anterior horn (spinal cord)|anterior gray horn of spinal cord owl:Class MONDO:0006953 biolink:NamedThing Rh isoimmunization The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. tmpak2llvmy_mondo_relaxed.owl Rh incompatibility affecting management of mother DOID:4175|UMLS:C0035404|MedDRA:10039016|EFO:1001159|SCTID:44795003 owl:Class MONDO:0002901 biolink:NamedThing blood group incompatibility tmpak2llvmy_mondo_relaxed.owl CSP:0440-3703|DOID:4176|UMLS:C0005806 May be obsoleted as it represents a finding owl:Class CL:0002623 biolink:NamedThing acinar cell of salivary gland An acinar cell of salivary gland. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-14T02:22:22Z cell owl:Class CL:0000622 biolink:NamedThing acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). tmpak2llvmy_mondo_relaxed.owl acinic cell|acinous cell FMA:83625 cell owl:Class HP:0011893 biolink:NamedThing Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. tmpak2llvmy_mondo_relaxed.owl Abnormal white blood cell count SNOMEDCT_US:165509000|UMLS:C0580531 peter 2012-06-02T05:32:39Z human_phenotype owl:Class HP:0001881 biolink:NamedThing Abnormal leukocyte morphology An abnormality of leukocytes. tmpak2llvmy_mondo_relaxed.owl Abnormality of leukocytes UMLS:C0152009|SNOMEDCT_US:134199001|SNOMEDCT_US:24827003 Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. human_phenotype owl:Class HGNC:6631 biolink:NamedThing LMAN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003469 biolink:NamedThing epithelioid cell synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. tmpak2llvmy_mondo_relaxed.owl synovial sarcoma, epithelioid cell|epithelial sarcoma of synovium|epithelioid synovial sarcoma|epithelial synovial sarcoma|epithelioid cell sarcoma of synovium|epithelial sarcoma of the synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)|epithelioid cell sarcoma of the synovium DOID:5494|ICDO:9042/3|NCIT:C4278|UMLS:C0334506 owl:Class MONDO:0005067 biolink:NamedThing monophasic synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. tmpak2llvmy_mondo_relaxed.owl monophasic sarcoma of synovium|monophasic sarcoma of the synovium|monophasic synovial sarcoma DOID:5495|EFO:0000595|NCIT:C6534|UMLS:C1334801 owl:Class HGNC:20788 biolink:NamedThing RHBDF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016424 biolink:NamedThing progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. tmpak2llvmy_mondo_relaxed.owl progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome UMLS:CN201381|Orphanet:228012 Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this owl:Class MONDO:0016331 biolink:NamedThing infantile systemic hyalinosis Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. tmpak2llvmy_mondo_relaxed.owl SCTID:238867003|Orphanet:2176|ICD10:E78.8 owl:Class MONDO:0009229 biolink:NamedThing hyaline fibromatosis syndrome tmpak2llvmy_mondo_relaxed.owl hyalinosis, systemic|infantile systemic hyalinosis (former subtype)|hyaline fibromatosis syndrome|juvenile hyaline fibromatosis (former subtype)|inherited systemic hyalinosis|HFS DOID:0111669|UMLS:C2745948|Orphanet:498474|OMIM:228600|GARD:0006807 owl:Class GO:1902093 biolink:NamedThing positive regulation of flagellated sperm motility Any process that activates or increases the frequency, rate or extent of flagellated sperm motility. tmpak2llvmy_mondo_relaxed.owl upregulation of sperm motility|activation of sperm movement|up regulation of sperm motility|activation of sperm motility|up-regulation of sperm motility|up-regulation of sperm movement|positive regulation of sperm motility|upregulation of sperm movement|up regulation of sperm movement|positive regulation of sperm movement owl:Class GO:0003353 biolink:NamedThing positive regulation of cilium movement Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl positive regulation of microtubule-based flagellum movement|positive regulation of flagellar movement|positive regulation of flagellum movement owl:Class MONDO:0006681 biolink:NamedThing Borrelia infectious disease Infections with bacteria of the genus borrelia. tmpak2llvmy_mondo_relaxed.owl Borrelia caused disease or disorder|Borrelia disease or disorder UMLS:C0006035|EFO:1000842|MESH:D001899|MedDRA:10061591 owl:Class MONDO:0021839 biolink:NamedThing spirochaetales infections Infections with bacteria of the order SPIROCHAETALES. tmpak2llvmy_mondo_relaxed.owl Spirochetal infection|INFECT SPIROCHAETALES|Spirochete Infection|SPIROCHETE INFECT|SPIROCHAETALES INFECT|Infection, Spirochete|Infections, Spirochete|Infection, Spirochaetales|Infections, Spirochaetales|Spirochaetales Infections|Spirochetosis|INFECT SPIROCHETE|Spirochete Infections|Spirochaetales Infection MESH:D013145|GARD:0007682|UMLS:C0037974 owl:Class MONDO:0031169 biolink:NamedThing odontochondrodysplasia tmpak2llvmy_mondo_relaxed.owl OMIMPS:184260 owl:Class MONDO:0016763 biolink:NamedThing spondylometaphyseal dysplasia Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia ICD10:Q77.8|Orphanet:254|OMIMPS:184255 owl:Class HGNC:24249 biolink:NamedThing YARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016042 biolink:NamedThing late-onset isolated ACTH deficiency Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. tmpak2llvmy_mondo_relaxed.owl Orphanet:199299|ICD10:E23.6 owl:Class MONDO:0019832 biolink:NamedThing acquired pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired hypopituitarism Orphanet:95502|ICD10:E23.0 Editor note: check this owl:Class HGNC:1967 biolink:NamedThing CHRNG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006500 biolink:NamedThing hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. tmpak2llvmy_mondo_relaxed.owl angioma|hemangioma|hemangioma, benign|benign angioma|benign hemangioma HP:0001028|UMLS:C0018916|ONCOTREE:HEMA|EFO:1000635|ICD9:228.09|GARD:0010759|ICD9:228.00|ICD9:228.0|SCTID:400210000|NCIT:C3085|MESH:D006391|ICD10:D18.00|DOID:255|ICD10:D18.0|ICDO:9120/0 owl:Class GO:0098962 biolink:NamedThing regulation of postsynaptic neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031644 biolink:NamedThing regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. tmpak2llvmy_mondo_relaxed.owl regulation of neurological system process|regulation of neurological process|regulation of neurophysiological process owl:Class MONDO:0006591 biolink:NamedThing panniculitis Inflammation of the subcutaneous adipose tissue. tmpak2llvmy_mondo_relaxed.owl Subcutaneous adipose tissue|subcutaneous adipose tissue inflammation|inflammation of subcutaneous adipose tissue|Subcutaneous tissue|subcutis ICD9:729.30|NCIT:C33645|EFO:1000746|ICD9:729.3|UMLS:C0030326|ICD10:M79.3|SCTID:22125009|ICD9:729.39|MESH:D015434|DOID:1526|Wikipedia:Panniculitis owl:Class NCBITaxon:37987 biolink:NamedThing Pneumocystidales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147553 biolink:NamedThing Pneumocystidomycetes tmpak2llvmy_mondo_relaxed.owl Archiascomycota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018094 biolink:NamedThing Waardenburg syndrome Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. tmpak2llvmy_mondo_relaxed.owl Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Waardenburg, types I and/or II|Waardenburg Shah syndrome|Waardenburg syndrome|Mende syndrome|Waardenburg's syndrome|van der Hoeve Halbertsona Waardenburg syndrome Orphanet:3440|GARD:0005525|OMIMPS:193500|SCTID:715952000|MedDRA:10069203|NCIT:C85222|ICD10:E70.3|DOID:9258 owl:Class MONDO:0012863 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl digit span quantitative trait locus|Adhd6|attention Deficit-hyperactivity disorder, susceptibility to, type 6|attention deficit-hyperactivity disorder, susceptibility to, 6 OMIM:612312 owl:Class MONDO:0001426 biolink:NamedThing mediastinum neurofibroma A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. tmpak2llvmy_mondo_relaxed.owl mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of the mediastinum|neurofibroma of mediastinum DOID:12064|NCIT:C6631|UMLS:C1334674 owl:Class MONDO:0016755 biolink:NamedThing neurofibroma An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. tmpak2llvmy_mondo_relaxed.owl neurofibroma (WHO grade I)|neurofibroma, benign|neurofibroma|NFIB EFO:0000622|GARD:0007191|MedDRA:10029267|NCIT:C3272|ICDO:9540/0|UMLS:C0027830|SCTID:404029005|Orphanet:252183|DOID:962|ICD9:215.9|ONCOTREE:NFIB|MESH:D009455 https://rarediseases.info.nih.gov/diseases/7191/neurofibroma owl:Class HGNC:12010 biolink:NamedThing TPM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009211 biolink:NamedThing congenital factor VII deficiency Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. tmpak2llvmy_mondo_relaxed.owl F7 deficiency|factor 7 deficiency|congenital proconvertin deficiency|congenital factor VII deficiency|hypoproconvertinemia|factor VII deficiency OMIM:227500|MedDRA:10016079|GARD:0002238|ICD10:D68.2|UMLS:C1394919|NCIT:C131631|Orphanet:327|DOID:2215 owl:Class MONDO:0002244 biolink:NamedThing factor VII deficiency A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. tmpak2llvmy_mondo_relaxed.owl factor VII deficiency|deficiency, stable|F7 deficiency|factor 7 deficiency MESH:D005168|ICD9:286.3|UMLS:C0015503|SCTID:37193007 owl:Class MONDO:0009977 biolink:NamedThing Knobloch syndrome Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele. tmpak2llvmy_mondo_relaxed.owl myopia retinal detachment encephalocele|Knobloch-Layer syndrome|KNOBLOCH syndrome 1|retinal detachment and occipital encephalocele|Kno|retinal detachment-occipital encephalocele syndrome|KNO1|Knobloch syndrome type 1 ICD9:759.89|MESH:C537209|OMIM:267750|GARD:0000380|SCTID:703542000|UMLS:C1849409|Orphanet:1571|ICD10:Q15.8 https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome owl:Class MONDO:0020248 biolink:NamedThing vitreoretinal degeneration tmpak2llvmy_mondo_relaxed.owl degenerative vitreoretinopathy ICD10:H35.5|HP:0007964|GARD:0005506|Orphanet:98670|SCTID:247182006|UMLS:C0344290 https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration owl:Class MONDO:0014611 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 4 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. tmpak2llvmy_mondo_relaxed.owl fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2|multiple mitochondrial dysfunctions syndrome type 4|MMDS4|multiple mitochondrial dysfunctions syndrome 4|ISCA2 fatal multiple mitochondrial dysfunctions syndrome Orphanet:457406|DOID:0080136|UMLS:C4225348|OMIM:616370 owl:Class MONDO:0019384 biolink:NamedThing encephalitis lethargica A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. tmpak2llvmy_mondo_relaxed.owl Von Economo’s disease|lethargic encephalitis|epidemic encephalitis|von Economo's disease|Von Economo encephalitis|von Economo disease|encephalitis lethargica ICD9:049.8|NCIT:C26761|GARD:0006332|DOID:5225|NCIT:C34576|ICD10:A85.8|Orphanet:83600|SCTID:186499007|UMLS:C0014040|MedDRA:10052369 https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica owl:Class MONDO:0010794 biolink:NamedThing NARP syndrome Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. tmpak2llvmy_mondo_relaxed.owl NARP syndrome|neuropathy-ataxia-retinitis pigmentosa syndrome|neuropathy ataxia retinitis pigmentosa syndrome|neuropathy, ataxia, and retinitis pigmentosa|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|NARP OMIM:551500|GARD:0000262|ICD10:G31.8|MESH:C537396|UMLS:C1328349|Orphanet:644|MedDRA:10062940|DOID:0111273 owl:Class MONDO:0015607 biolink:NamedThing partial chromosome Y deletion Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. tmpak2llvmy_mondo_relaxed.owl partial deletion of Y|partial deletion of the long arm of the Y chromosome|Y-chromosome microdeletions|partial deletion of Y chromosome short arm|Male sterility due to chromosome Y deletion|partial deletion of chromosome Y Orphanet:1646|MESH:C536297|SCTID:717158001|HGNC:11311|GARD:0004230|ICD10:Q98.6 owl:Class MONDO:0019198 biolink:NamedThing sympathetic ophthalmia Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. tmpak2llvmy_mondo_relaxed.owl sympathetic uveitis|sympathetic ophthalmia ICD9:360.11|ICD10:H44.13|SCTID:75315001|MedDRA:10042742|ICD10:H44.1|Orphanet:79098|MESH:D009879|UMLS:C0029077|DOID:12029|EFO:1001205 owl:Class MONDO:0017634 biolink:NamedThing non-infectious anterior uveitis tmpak2llvmy_mondo_relaxed.owl non-infectious iridocyclitis SCTID:267619000|Orphanet:306648|UMLS:C0339317 owl:Class MONDO:0001366 biolink:NamedThing splenic sequestration tmpak2llvmy_mondo_relaxed.owl DOID:11786|ICD9:289.52 Editor note: TODO consider cede to HPO owl:Class MONDO:0002332 biolink:NamedThing splenic disease A disease involving the spleen. tmpak2llvmy_mondo_relaxed.owl disorder of spleen|disease of spleen|spleen disease|splenic disease|splenic disorder|disease or disorder of spleen|spleen disease or disorder|spleen disorder|Dyssplenism EFO:0009002|UMLS:C0037997|ICD9:289.50|NCIT:C35823|MESH:D013158|ICD10:D73.9|DOID:2529|ICD10:D73|SCTID:51244008 owl:Class MONDO:0019138 biolink:NamedThing bleeding diathesis due to a collagen receptor defect tmpak2llvmy_mondo_relaxed.owl Orphanet:73271|ICD10:D69.8 owl:Class MONDO:0011771 biolink:NamedThing distal spinal muscular atrophy type 3 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. tmpak2llvmy_mondo_relaxed.owl distal hereditary motor neuropathy type 3 and type 4|dHMN4|dSMA3|neuropathy, distal hereditary motor, type 4|neuronopathy, distal hereditary motor, type 4|neuronopathy, distal hereditary motor, type 3|HMN 4|dHMN3 and dHMN4|spinal muscular atrophy, distal, autosomal recessive, 3|HMN 3|dHMN3|autosomal recessive distal spinal muscular atrophy type 3 UMLS:C1846823|DOID:0111211|ICD10:G12.2|Orphanet:139547|MESH:C564626|OMIM:607088 owl:Class UBERON:0002291 biolink:NamedThing central canal of spinal cord Spinal cord structure that is part of the ventricular system and is filled with cerebral-spinal fluid and runs the length of the spinal cord. tmpak2llvmy_mondo_relaxed.owl canalis centralis|central canal, spinal cord/medulla|central canal|central canal of spinal cord|spinal cord central canal|ventricle of spinal cord owl:Class MONDO:0009011 biolink:NamedThing constriction rings syndrome Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. tmpak2llvmy_mondo_relaxed.owl amputation, congenital|amniotic band sequence|terminal transverse defects of arm|congenital ring constrictions|CONSTRICTING bands, congenital|Streeter dysplasia|constriction band syndrome|Streeter anomaly|Adam Complex ICD10:Q79.8|Orphanet:295000|OMIM:217100 owl:Class MONDO:0015167 biolink:NamedThing amniotic band syndrome Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. tmpak2llvmy_mondo_relaxed.owl familial amniotic bands|amniotic bands sequence|deformity due to amniotic band|congenital constricting bands|amniotic bands|amniotic deformity-adhesion-mutilation syndrome|amniotic band constriction|Adam syndrome SCTID:440214006|NCIT:C84552|GARD:0000429|Orphanet:1034|ICD10:Q79.8|MESH:D000652 owl:Class MONDO:0004475 biolink:NamedThing thymus clear cell carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl clear cell carcinoma of the Thymus|thymus clear cell carcinoma|thymic clear cell carcinoma|Thymus clear cell carcinoma|clear cell carcinoma of Thymus NCIT:C6462|DOID:8137|UMLS:C1333069 owl:Class MONDO:0006451 biolink:NamedThing thymic carcinoma Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential. tmpak2llvmy_mondo_relaxed.owl thymus carcinoma|malignant thymoma|THYC|thymic carcinoma (excluding well differentiated thymic carcinoma)|type C thymoma|thymoma type C|thymic carcinoma excluding well differentiated thymic carcinoma|thymic carcinoma|thymoma, malignant (morphologic abnormality)|thymoma, malignant|thymoma, type C|carcinoma of thymus|thymoma, type C (morphologic abnormality) ONCOTREE:THYC|UMLS:CN207411|EFO:1000576|UMLS:C0205969|GARD:0011952|ICDO:8586/3|Orphanet:99868|NCIT:C7569|ICD10:C37|DOID:4554|MedDRA:10061031|SCTID:444374006|DOID:3284|UMLS:C1322286 owl:Class MONDO:0010237 biolink:NamedThing X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. tmpak2llvmy_mondo_relaxed.owl mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|mental retardation, X-linked, with craniofacial dysmorphism|plagiocephaly and X-linked intellectual disability|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Hyde Forster McCarthy Berry syndrome|intellectual disability, X-linked, with craniofacial dysmorphism|Hyde Forster-McCarthy-Berry syndrome|intellectual disability, X-linked Hyde-Forster type|mental retardation, X-linked, Hyde-Forster type|mental retardation, X-linked Hyde-Forster type|intellectual disability, X-linked, Hyde-Forster type|plagiocephaly and X-linked mental retardation GARD:0002765|OMIM:300064|MESH:C537512|UMLS:C2931516|GARD:0004377|Orphanet:2898|ICD10:Q87.0|SCTID:719812008 owl:Class GO:0006757 biolink:NamedThing ATP generation from ADP The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. tmpak2llvmy_mondo_relaxed.owl ADP phosphorylation owl:Class GO:0046034 biolink:NamedThing ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. tmpak2llvmy_mondo_relaxed.owl ATP metabolism owl:Class MONDO:0014336 biolink:NamedThing intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 23|autosomal dominant mental retardation 23|intellectual disability, autosomal dominant 23|intellectual disability, autosomal dominant type 23|mental retardation, autosomal dominant type 23|MRD23|intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|mental retardation, autosomal dominant 23|autosomal dominant non-syndromic intellectual disability 23 Orphanet:404440|OMIM:615761|DOID:0070053|ICD10:Q87.0|UMLS:C3810406 owl:Class MONDO:0009103 biolink:NamedThing diaphragmatic hernia 2 tmpak2llvmy_mondo_relaxed.owl diaphragmatic hernia 2|DIH2 MESH:C565629|OMIM:222400 owl:Class MONDO:0005711 biolink:NamedThing congenital diaphragmatic hernia Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. tmpak2llvmy_mondo_relaxed.owl diaphragmatic hernia|congenital diaphragmatic hernia|CDH|agenesis of hemidiaphragm|unilateral agenesis of diaphragm|congenital diaphragmatic defect ICD10:Q79.0|ICD10:K44.9|ICD10:K44|UMLS:C0235833|GARD:0001481|EFO:0007216|DOID:3827|Orphanet:2140|MedDRA:10010439|NCIT:C98893 owl:Class GO:0051799 biolink:NamedThing negative regulation of hair follicle development Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development. tmpak2llvmy_mondo_relaxed.owl inhibition of hair follicle development|down regulation of hair follicle development|downregulation of hair follicle development|down-regulation of hair follicle development owl:Class MONDO:0004698 biolink:NamedThing intestine carcinoma in situ A carcinoma in situ involving a intestine. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of intestine|stage 0 intestine carcinoma|intestine in situ carcinoma ICD10:D01.4|SCTID:92617001|ICD9:230.7|UMLS:C0685941|DOID:9024 owl:Class MONDO:0006181 biolink:NamedThing digestive system carcinoma A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma of the gastrointestinal system|gastrointestinal system carcinoma|gastrointestinal carcinoma|digestive system carcinoma|gastrointestinal carcinoma (disease)|carcinoma of digestive system DOID:0050922|UMLS:C0151544|EFO:1000218|NCIT:C96963|HP:0002672 owl:Class MONDO:0006956 biolink:NamedThing Rickettsiosis A group of infectious diseases that is caused by Rickettsia. tmpak2llvmy_mondo_relaxed.owl Rickettsia infectious disease|infection, Rickettsia|infections, Rickettsia|Rickettsia infection|Rickettsial infectious disease|Rickettsia caused disease or disorder|Rickettsiae disease|Rickettsial infectious disorder|Rickettsia disease or disorder|Rickettsiosis|Rickettsial disease UMLS:C0035585|MedDRA:10061495|Orphanet:102021|NCIT:C34991|MESH:D012282|EFO:1001162|ICD9:083.9|SCTID:37246009 We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus owl:Class GO:0050866 biolink:NamedThing negative regulation of cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. tmpak2llvmy_mondo_relaxed.owl down-regulation of cell activation|downregulation of cell activation|down regulation of cell activation|inhibition of cell activation owl:Class CHEBI:38196 biolink:NamedThing hydroxymethylpyridine Any member of the class of pyridines carrying a hydroxymethyl substituent at unspecified position. tmpak2llvmy_mondo_relaxed.owl hydroxymethylpyridines owl:Class CHEBI:26421 biolink:NamedThing pyridines Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001471 biolink:NamedThing histoplasmosis meningitis An infectious meningitis caused by infection with Histoplasma capsulatum. tmpak2llvmy_mondo_relaxed.owl Histoplasma capsulatum caused infectious meningitis|Histoplasma capsulatum infectious meningitis|histoplasmosis with meningitis ICD9:115.91|DOID:12246 owl:Class MONDO:0002099 biolink:NamedThing Histoplasma capsulatum infectious disease An disease or disorder caused by infection with Histoplasma capsulatum. tmpak2llvmy_mondo_relaxed.owl American histoplasmosis|infection caused by Histoplasma capsulatum|small form histoplasmosis|Histoplasma capsulatum disease or disorder|infection by Histoplasma capsulatum|Histoplasma capsulatum caused disease or disorder|darling's disease|classical histoplasmosis ICD10:B39.4|DOID:1759|SCTID:76255006|ICD9:115.0|ICD9:115.00 owl:Class OBO:CARO_0000006 biolink:NamedThing material anatomical entity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002382 biolink:NamedThing benign mesenchymoma A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpak2llvmy_mondo_relaxed.owl mesenchymal tumor, benign|mesenchymoma, benign|mesenchymoma, benign (morphologic abnormality) DOID:2667|UMLS:C0334491|ICDO:8990/0|NCIT:C4267 owl:Class MONDO:0006854 biolink:NamedThing mesenchymoma A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpak2llvmy_mondo_relaxed.owl mesenchymoma DOID:2668|MESH:D008637|EFO:1001042|ICDO:8990/1|NCIT:C3233|UMLS:C0025464 owl:Class MONDO:0002637 biolink:NamedThing histiocytosis A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. tmpak2llvmy_mondo_relaxed.owl histiocytic infiltrate|chronic histiocytosis X|histiocytic syndrome|hand Schuller Christian disease|histiocytic and dendritic cell neoplasms NCIT:C3106|UMLS:C0019618|DOID:3405|MESH:D015614|ONCOTREE:HDCN owl:Class MONDO:0004258 biolink:NamedThing female orgasmic disorder A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. tmpak2llvmy_mondo_relaxed.owl female orgasmic disorder|inhibited female orgasm ICD10:F52.31|NCIT:C34958|SCTID:60103007|ICD9:302.73|DOID:7518 owl:Class MONDO:0040674 biolink:NamedThing orgasm disorder tmpak2llvmy_mondo_relaxed.owl abnormal orgasm|orgasm disorder|orgasmic dysfunction ICD10:F52.3|SCTID:82636008 owl:Class MONDO:0013557 biolink:NamedThing Hermansky-Pudlak syndrome 5 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome 5|HPS5|Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 5 UMLS:C3888004|OMIM:614074|DOID:0060543 owl:Class MONDO:0016502 biolink:NamedThing Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. tmpak2llvmy_mondo_relaxed.owl HPS without pulmonary fibrosis ICD10:E70.3|Orphanet:231512|UMLS:CN201507 owl:Class UBERON:0002376 biolink:NamedThing cranial muscle Any skeletal muscle that is part of the head region. tmpak2llvmy_mondo_relaxed.owl muscle of head|muscle organ of head|cranial muscle|cephalic musculature|cephalic muscle|adult head muscle organ|muscle organ of adult head|head muscle|head muscle organ|musculus caput|head muscles owl:Class MONDO:0016496 biolink:NamedThing pharyngeal-cervical-brachial variant of Guillain-Barre syndrome tmpak2llvmy_mondo_relaxed.owl PCB variant of GBS|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|pharyngo-cervico-brachial variant of GBS|pharyngeal-cervical-brachial weakness|pharyngo-cervico-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-BarrC) syndrome Orphanet:231426|ICD10:G61.0|UMLS:CN201499 owl:Class MONDO:0019178 biolink:NamedThing auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205748|Orphanet:77300|ICD10:Q87.0 owl:Class UBERON:0004257 biolink:NamedThing upper leg blood vessel A blood vessel that is part of a hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of upper leg|blood vessel of thigh|blood vessel of stylopod of hindlimb|hindlimb stylopod blood vessel|thigh blood vessel|hind limb stylopod blood vessel|blood vessel of stylopod of hind limb owl:Class GO:0043225 biolink:NamedThing ATPase-coupled inorganic anion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). tmpak2llvmy_mondo_relaxed.owl anion ABC transporter|ATPase-coupled anion transmembrane transporter activity|anion transmembrane-transporting ATPase activity|ATP-dependent anion transmembrane transporter activity|anion-transporting ATPase activity owl:Class GO:0015103 biolink:NamedThing inorganic anion transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004266 biolink:NamedThing upper leg connective tissue A portion of connective tissue that is part of a hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000824 biolink:NamedThing congenital diarrhea tmpak2llvmy_mondo_relaxed.owl diarrhea, congenital DOID:0060774|UMLS:CN232319|OMIMPS:214700 owl:Class MONDO:0001673 biolink:NamedThing diarrheal disease The condition of having at least three loose or liquid bowel movements each day. tmpak2llvmy_mondo_relaxed.owl diarrhoea|diarrheal disease|diarrhea|frequent stools|diarrheal disorder|diarrhea of presumed infectious origin|loose stools HP:0002014|DOID:13250|ICD9:009.2|MESH:D003967|NCIT:C2987|SCTID:128333008 owl:Class MONDO:0016939 biolink:NamedThing partial duplication of the short arm of chromosome 2 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial trisomy 2p|Duplication 2p|partial trisomy of chromosome 2p|trisomy 2p|2p trisomy|2p duplication|partial duplication of chromosome 2p|chromosome 2p duplication|partial duplication of the short arm of chromosome type 2 MESH:C538318|Orphanet:262698|GARD:0005337|UMLS:C0795803 owl:Class UBERON:0001051 biolink:NamedThing hypopharynx Bottom part of the pharynx that connects to the esophagus. tmpak2llvmy_mondo_relaxed.owl laryngopharynx|laryngeal pharynx|pars laryngea pharyngis owl:Class MONDO:0014047 biolink:NamedThing Cowden syndrome 5 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. tmpak2llvmy_mondo_relaxed.owl Cowden syndrome 5|Cowden disease caused by mutation in PIK3CA|CWS5|Cowden syndrome type 5|PIK3CA Cowden disease OMIM:615108|UMLS:C3554518 owl:Class MONDO:0016063 biolink:NamedThing Cowden disease tmpak2llvmy_mondo_relaxed.owl Cowden's disease|Cowden syndrome|dysplastic gangliocytoma of cerebellum|Cowden disease|MHAM|CD|multiple hamartoma syndrome ICD10:Q85.8|MESH:D006223|MedDRA:10051906|DOID:6457|OMIMPS:158350|Orphanet:201|GARD:0006202|NCIT:C3076|SCTID:58037000|UMLS:C0018553 owl:Class MONDO:0019118 biolink:NamedThing inherited retinal dystrophy An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial retinal dystrophy|fundus dystrophy|retinal dystrophy|hereditary retinal dystrophy|hereditary retinal degeneration|genetic retinal dystrophy|inherited retinal dystrophy SCTID:41799005|UMLS:C0154860|DOID:8501|HP:0000556|MedDRA:10038857|ICD9:362.75|UMLS:C0854723|SCTID:314407005|NCIT:C35625|ICD10:H35.5|NCIT:C35194|DOID:8500|ICD9:362.70|ICD9:362.7|Orphanet:71862|ICD9:362.72|MESH:D058499|ICD10:H35.50 Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same owl:Class MONDO:0004580 biolink:NamedThing retinal degeneration Degeneration of the retina. tmpak2llvmy_mondo_relaxed.owl degeneration of retina|retina, Degeneration Of|retina degeneration SCTID:95695004|NCIT:C34979|MESH:D012162|DOID:8466 owl:Class NCBITaxon:11155 biolink:NamedThing Torovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694017 biolink:NamedThing Torovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005062 biolink:NamedThing lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl lymphoma (Hodgkin's and non-Hodgkin's)|lymphoma, malignant|lymphoid cancer|MLYM|malignant lymphoma|lymphoma|lymphomatous|lymphoma (Hodgkin and non-Hodgkin) NCIT:C3208|GARD:0011955|ICD9:202.80|MESH:D008223|SCTID:118600007|ICD9:200.1|ICD9:200.0|Orphanet:223735|DOID:0060058|ICD10:C85.9|MedDRA:10025310|ICDO:9590/3|ONCOTREE:MLYM|EFO:0000574|UMLS:C0024299 This is potentially too broad as well as overlaps with leukemia and should be obsoleted. owl:Class NCBITaxon:6447 biolink:NamedThing Mollusca tmpak2llvmy_mondo_relaxed.owl mollusks|molluscs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1206795 biolink:NamedThing Lophotrochozoa tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016890 biolink:NamedThing partial deletion of the short arm of chromosome 8 Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy of the short arm of chromosome 8|partial monosomy of chromosome 8p|8p deletion|8p monosomy|partial monosomy 8p|deletion 8p|chromosome 8p deletion|partial deletion of chromosome 8p|partial deletion of the short arm of chromosome type 8|monosomy 8p MESH:C537826|GARD:0003768|Orphanet:261920|ICD10:Q93.5 owl:Class MONDO:0009439 biolink:NamedThing autosomal recessive congenital ichthyosis 2 An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. tmpak2llvmy_mondo_relaxed.owl ichthyosiform erythroderma, Brocq congenital, nonbullous form|ARCI2|NCIE1|ichthyosis, congenital, autosomal recessive type 2|nonbullous congenital ichthyosiform erythroderma 1|ichthyosiform erythroderma, congenital, nonbullous, 1|NCIE|collodion baby, self-healing|NBCIE|ichthyosis, congenital, autosomal recessive 2|Brocq congenital ichthyosiform erythroderma nonbullous form|autosomal recessive congenital ichthyosis type 2|ichthyosiform erythroderma, nonbullous congenital, 1|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly DOID:0060710|NCIT:C132827|ICD10:Q80.2|GARD:0009736|OMIM:242100 owl:Class HGNC:565 biolink:NamedThing AP2S1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032884 biolink:NamedThing ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies tmpak2llvmy_mondo_relaxed.owl ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES|EDFAOB OMIM:618727 owl:Class HGNC:30800 biolink:NamedThing TMIE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000007 biolink:NamedThing pituitary gland The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. tmpak2llvmy_mondo_relaxed.owl pituitary body|hypophysis cerebri|glandula pituitaria|Hp|pituitary|hypophysis owl:Class UBERON:0004402 biolink:NamedThing bone tissue of proximal epiphysis A portion of bone tissue that is part of a proximal epiphysis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002481 biolink:NamedThing bone tissue Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. tmpak2llvmy_mondo_relaxed.owl portion of bone tissue|bone|osteogenic tissue|calcium tissue|osseous tissue|mineralized bone tissue owl:Class MONDO:0015848 biolink:NamedThing septate vagina tmpak2llvmy_mondo_relaxed.owl Orphanet:180154|ICD9:752.49|SCTID:47054003|HP:0001153|ICD10:Q52.1 Editor note: consider ceding this and subclasses to HPO owl:Class MONDO:0021124 biolink:NamedThing female infertility Diminished or absent ability of a female to achieve conception. tmpak2llvmy_mondo_relaxed.owl subfertility, female|sterility, postpartum|sub-fertility, female|sub fertility, female|postpartum sterility|female reproductive system infertility|infertility disorder of female reproductive system|sterility, female|female subfertility|female reproductive system infertility disorder|female sterility|female sub-fertility|female infertility ICD9:628.8|SCTID:6738008|ICD9:628.9|UMLS:C0341869|EFO:0008560|ICD10:N97|MESH:D007247 owl:Class MONDO:0013524 biolink:NamedThing bleeding diathesis due to thromboxane synthesis deficiency tmpak2llvmy_mondo_relaxed.owl bleeding disorder, platelet-type, 13, susceptibility to|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|susceptibility to platelet-type bleeding disorder 13|BDPLT13 Orphanet:220443|OMIM:614009|ICD10:D69.8 owl:Class MONDO:0018796 biolink:NamedThing isolated constitutional thrombocytopenia tmpak2llvmy_mondo_relaxed.owl non-syndromic constitutional thrombocytopenia|Cconstitutional thrombocytopenia without extra-hematopoietic manifestation Orphanet:477797 owl:Class GO:0006820 biolink:NamedThing anion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006811 biolink:NamedThing ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016059 biolink:NamedThing cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. tmpak2llvmy_mondo_relaxed.owl Lowry-Yong syndrome Orphanet:2003|UMLS:CN200748|SCTID:716007007|ICD10:Q87.8 owl:Class GO:0010923 biolink:NamedThing negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051346 biolink:NamedThing negative regulation of hydrolase activity Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpak2llvmy_mondo_relaxed.owl down-regulation of hydrolase activity|hydrolase inhibitor|down regulation of hydrolase activity|downregulation of hydrolase activity|inhibition of hydrolase activity owl:Class MONDO:0007432 biolink:NamedThing cerebral arteriopathy with subcortical infarcts and leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl cerebral arteriopathy with subcortical infaracts and leukoencephalopathy|Casil|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|CADASIL|dementia, hereditary multi-infarct type DOID:13945|ICD9:447.8|OMIMPS:125310|ICD9:323.9 owl:Class HGNC:17328 biolink:NamedThing DTNBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051971 biolink:NamedThing positive regulation of transmission of nerve impulse Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpak2llvmy_mondo_relaxed.owl positive regulation of conduction of nerve impulse|up regulation of transmission of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse|up-regulation of transmission of nerve impulse|activation of transmission of nerve impulse owl:Class GO:0010647 biolink:NamedThing positive regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016628 biolink:NamedThing hemorrhagic disorder due to a coagulation factors defect tmpak2llvmy_mondo_relaxed.owl rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect 2022-03-01 UMLS:CN226979|Orphanet:248315 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemorrhagic disease' MONDO_0002243 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:0006707 biolink:NamedThing cholesterol catabolic process The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpak2llvmy_mondo_relaxed.owl cholesterol catabolism|cholesterol degradation|cholesterol breakdown owl:Class GO:0046164 biolink:NamedThing alcohol catabolic process The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpak2llvmy_mondo_relaxed.owl alcohol breakdown|alcohol catabolism|alcohol degradation owl:Class MONDO:0008591 biolink:NamedThing tremor-nystagmus-duodenal ulcer syndrome tmpak2llvmy_mondo_relaxed.owl tremor, NYSTAGMUS, and duodenal ulcer|Neuhauser Daly Magnelli syndrome|Neuhauser-Daly-Magnelli syndrome|tremor nystagmus duodenal ulcer UMLS:C1860860|MESH:C536406|GARD:0003948|Orphanet:3350|OMIM:190310 owl:Class MONDO:0017286 biolink:NamedThing tempi syndrome TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. tmpak2llvmy_mondo_relaxed.owl telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome|telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting UMLS:C3854394|SCTID:718614004|NCIT:C121656|GARD:0010962|Orphanet:284227 https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome owl:Class GO:1904318 biolink:NamedThing regulation of smooth muscle contraction involved in micturition Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpak2llvmy_mondo_relaxed.owl regulation of urinary bladder smooth muscle contraction involved in micturition|regulation of smooth muscle contraction involved in urination owl:Class UBERON:0000484 biolink:NamedThing simple cuboidal epithelium Unilaminar epithelium that consists of a single layer of cuboidal cells. tmpak2llvmy_mondo_relaxed.owl simple cuboidal epithelia|epithelium simplex cuboideum owl:Class UBERON:0000490 biolink:NamedThing unilaminar epithelium Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA] tmpak2llvmy_mondo_relaxed.owl simple epithelium|unilaminar epithelia owl:Class MONDO:0004380 biolink:NamedThing dendritic cell sarcoma A sarcoma that involves the dendritic cell. tmpak2llvmy_mondo_relaxed.owl Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)|dendritic cell sarcoma|Dendritic cell sarcoma|follicular dendritic cell sarcoma|sarcoma of dendritic cell SCTID:446643000|NCIT:C27260|DOID:7849|ONCOTREE:DCS Editor note: we place the NCIT class here even though it is NOS owl:Class MONDO:0005089 biolink:NamedThing sarcoma A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of soft tissue and bone|sarcoma, malignant|tumor of soft tissue and skeleton|sarcoma|sarcoma of the soft tissue and bone|mesenchymal tumor, malignant ICD9:171.2|ICDO:8800/3|ICD9:171.9|ICD9:171.3|NCIT:C9118|EFO:0000691|DOID:1115|ICD9:171.5|GARD:0012018|SCTID:424413001|MESH:D012509|ICD9:171|ICD10:C49|ICD9:171.0|ICD9:171.4|ICD9:171.7|ICD9:171.8|ICD9:171.6 owl:Class UBERON:0007195 biolink:NamedThing stroma of bone marrow The stroma of the bone marrow is all tissue not directly involved in the primary function of hematopoiesis. The yellow bone marrow belongs here, and makes the majority of the bone marrow stroma, in addition to stromal cells located in the red bone marrow. Yellow bone marrow is found in the Medullary cavity. Still, the stroma is indirectly involved in hematopoiesis, since it provides the hematopoietic microenvironment that facilitates hematopoiesis by the parenchymal cells. For instance, they generate colony stimulating factors, affecting hematopoiesis. tmpak2llvmy_mondo_relaxed.owl bone marrow stroma owl:Class MONDO:0018572 biolink:NamedThing severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:436141|UMLS:CN237585 owl:Class UBERON:0010562 biolink:NamedThing pedal digit 1 mesenchyme Mesenchyme that is part of a developing pedal digit 1. tmpak2llvmy_mondo_relaxed.owl pedal digit I mesenchyme|foot digit 1 mesenchyme|hind limb digit 1 mesenchyme owl:Class UBERON:0003104 biolink:NamedThing mesenchyme Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. tmpak2llvmy_mondo_relaxed.owl portion of mesenchymal tissue|mesenchyme tissue|portion of mesenchyme tissue|mesenchymal tissue|mesenchyma owl:Class MONDO:0018648 biolink:NamedThing Keratocystic odontogenic tumor An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. tmpak2llvmy_mondo_relaxed.owl odontogenic Keratocyst|odontogenic keratocystoma|KTOC NCIT:C54302|Orphanet:447777|SCTID:713277006|ICD10:D16.4|UMLS:CN237705|UMLS:C1708604 owl:Class PATO:0001402 biolink:NamedThing multipotent A cellular potency that is the capacity to form multiple differentiated cell types. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001397 biolink:NamedThing cellular potency A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015023 biolink:NamedThing phalanx endochondral element A phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl phalanx skeletal element|phalanx element owl:Class HGNC:11006 biolink:NamedThing SLC2A2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5036 biolink:NamedThing Histoplasma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:299071 biolink:NamedThing Ajellomycetaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:4795 biolink:NamedThing H6PD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000981 biolink:NamedThing femur Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. tmpak2llvmy_mondo_relaxed.owl mesomere 1 of pevlic appendage|proximal metapterygial mesomere of pelvic fin|os femorale|proximal metapterygial mesomere of pelvic appendage|os longissimum|thigh bone|os femoris|femoral bone owl:Class UBERON:0015052 biolink:NamedThing femur endochondral element A femur bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl femur skeletal element|femur element owl:Class HGNC:7602 biolink:NamedThing MYO5A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002352 biolink:NamedThing atrioventricular node An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles. tmpak2llvmy_mondo_relaxed.owl nodus atrioventricularis|AV nodal muscle tissue|AV node|atriovetricular node|node of Tawara|Aschoff-Tawara node|A-V node|atrioventricular nodal muscle tissue|atrio-ventricular node|downstream pacemaker owl:Class UBERON:0010131 biolink:NamedThing conducting tissue of heart Any portion of cardiac muscle tissue that is part of the conducting system of heart or the Purkinje fibers. tmpak2llvmy_mondo_relaxed.owl specialized muscle tissue of heart|specialized conducting tissue of heart owl:Class MONDO:0018208 biolink:NamedThing neurofibromatosis type 1 due to NF1 mutation or intragenic deletion tmpak2llvmy_mondo_relaxed.owl Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700|UMLS:CN204726|ICD10:Q85.0 owl:Class MONDO:0018975 biolink:NamedThing neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. tmpak2llvmy_mondo_relaxed.owl neurofibromatosis, type I|type 1 neurofibromatosis|neurofibromatosis type 1|neurofibromatosis type 1 microdeletion syndrome|von Reklinghausen disease|neurofibromatosis, peripheral type|Von Recklinghausen disease|neurofibromatosis|neurofibromatosis, type 1|Recklinghausen's disease|neurofibromatosis 1|peripheral neurofibromatosis|NF1 Orphanet:636|GARD:0007866|NCIT:C3273|ICD10:Q85.0|MESH:D009456|OMIM:162200|DOID:0111253|MESH:C538607|ICD9:237.71|UMLS:C0027831|SCTID:92824003|MedDRA:10047712 owl:Class CL:1000465 biolink:NamedThing chromaffin cell of ovary A chromaffin cell that is part of the ovary. tmpak2llvmy_mondo_relaxed.owl FMA:74319 cell owl:Class GO:0043392 biolink:NamedThing negative regulation of DNA binding Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpak2llvmy_mondo_relaxed.owl down regulation of DNA binding|downregulation of DNA binding|down-regulation of DNA binding|inhibition of DNA binding owl:Class UBERON:0004151 biolink:NamedThing cardiac chamber A cardiac chamber surrounds an enclosed cavity within the heart tmpak2llvmy_mondo_relaxed.owl heart chamber|chamber of heart owl:Class MONDO:0021650 biolink:NamedThing uterine corpus neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl body of uterus neuroendocrine tumor|body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|uterine corpus neuroendocrine tumor|body of uterus NET|uterine corpus neuroendocrine neoplasm|body of uterus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus NCIT:C126771|UMLS:C4288048 owl:Class MONDO:0006771 biolink:NamedThing glossitis Inflammation of the tongue. tmpak2llvmy_mondo_relaxed.owl inflammation of tongue|tongue inflammation ICD10:K14.0|UMLS:C0017675|MESH:D005928|ICD9:529.0|EFO:1000951|DOID:1456|MedDRA:10018386|SCTID:45534005 owl:Class MONDO:0001165 biolink:NamedThing tongue disease A disease involving the tongue. tmpak2llvmy_mondo_relaxed.owl disorder of tongue|disease or disorder of tongue|disease of tongue|tongue disease or disorder|tongue disease DOID:10944|ICD10:K14|UMLS:C0040409|SCTID:69244009|ICD10:K14.9|ICD9:529.9|MESH:D014060|ICD9:529.8 owl:Class UBERON:0005418 biolink:NamedThing hindlimb bud A limb bud that develops into a hindlimb. tmpak2llvmy_mondo_relaxed.owl limb bud - hindlimb|posterior limb bud|hind limb bud|leg bud owl:Class UBERON:0004347 biolink:NamedThing limb bud An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. tmpak2llvmy_mondo_relaxed.owl limb buds|gemmae membrorum|limbbud owl:Class HGNC:3473 biolink:NamedThing ESRRB tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:600669 biolink:NamedThing Nakaseomyces/Candida clade tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:374468 biolink:NamedThing Nakaseomyces tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:14654427 ncbi_taxonomy owl:Class UBERON:0007144 biolink:NamedThing embryonic post-anal tail An embryonic structure that will either develop into a post-anal tail or recede into a vestigial remnant of the tail. tmpak2llvmy_mondo_relaxed.owl tail of embryo|embryo tail|embryonic tail owl:Class GO:0048243 biolink:NamedThing norepinephrine secretion The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl noradrenaline secretion owl:Class MONDO:0016431 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. tmpak2llvmy_mondo_relaxed.owl CMT2M ICD10:G60.0|Orphanet:228179|UMLS:CN201389|UMLS:C4304672|SCTID:719514002 owl:Class MONDO:0011674 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. tmpak2llvmy_mondo_relaxed.owl CMTDIB|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Di-CMTB|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|DI-CMTB|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Charcot-Marie-Tooth disease, dominant intermediate B|Charcot-Marie-Tooth neuropathy dominant intermediate B|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease caused by mutation in DNM2|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2M|Cmtdi1|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|Charcot-Marie-Tooth disease, dominant Intermediate type B|CMTDI1 UMLS:CN197338|ICD10:G60.0|DOID:0110197|SCTID:765745007|GARD:0012438|OMIM:606482|Orphanet:100044 owl:Class CHEBI:26895 biolink:NamedThing tetracyclines A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:26188 biolink:NamedThing polyketide Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. tmpak2llvmy_mondo_relaxed.owl polyketide|polyketides owl:Class GO:0018958 biolink:NamedThing phenol-containing compound metabolic process The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl carbolic acid metabolic process|hydroxybenzene metabolic process|hydroxybenzene metabolism|phenol-containing compound metabolism|carbolic acid metabolism owl:Class GO:0006725 biolink:NamedThing cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl aromatic hydrocarbon metabolic process|aromatic compound metabolism|aromatic hydrocarbon metabolism owl:Class MONDO:0003396 biolink:NamedThing epulis A non-neoplastic nodular lesion that arises from the gingiva. tmpak2llvmy_mondo_relaxed.owl gum polyp|epulides|polyp of the gingiva|gingival polyp|polyp of the gum|polyp of gingiva|polyp of gum|gingiva polyp SCTID:45676007|DOID:5337|ICD9:523.8|NCIT:C3948|UMLS:C0266919 owl:Class HGNC:10979 biolink:NamedThing SLC25A1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:17137 biolink:NamedThing hydrogensulfite tmpak2llvmy_mondo_relaxed.owl HSO3(-)|Bisulfite|hydrogentrioxosulfate(IV)|bisulphite|hydrogensulfite(1-)|Hydrogen sulfite|HSO3-|monohydrogentrioxosulfate|hydrogen(trioxidosulfate)(1-)|hydrogen sulfite(1-)|hydrosulfite anion|hydrogentrioxosulfate(1-)|bisulfite|[SO2(OH)](-)|hydroxidodioxidosulfate(1-) owl:Class MONDO:0020516 biolink:NamedThing thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. tmpak2llvmy_mondo_relaxed.owl thymus neuroendocrine carcinoma|neuroendocrine carcinoma of thymus|thymic neuroendocrine carcinoma UMLS:CN207412|UMLS:C2210965|SCTID:716653001|Orphanet:99869|ICD10:C37 owl:Class MONDO:0004765 biolink:NamedThing intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. tmpak2llvmy_mondo_relaxed.owl DOID:9360|ICD10:J45|ICD9:493.1|UMLS:C0155880|SCTID:266361008 owl:Class MONDO:0004979 biolink:NamedThing asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. tmpak2llvmy_mondo_relaxed.owl chronic obstructive asthma|exercise-induced asthma|chronic obstructive asthma with status asthmaticus|bronchial hyperreactivity|chronic obstructive asthma with acute exacerbation|exercise induced asthma KEGG:05310|UMLS:C0004096|ICD10:J45.90|HP:0002099|EFO:0000270|ICD9:493.81|ICD10:J45.909|DOID:2841|MESH:D001249|ICD9:493|ICD9:493.9|GARD:0010246|SCTID:31387002|NCIT:C28397|ICD10:J45 owl:Class NCBITaxon:5722 biolink:NamedThing Trichomonas vaginalis tmpak2llvmy_mondo_relaxed.owl Tritrichomonas vaginalis GC_ID:1 NCBITaxon:28848 ncbi_taxonomy owl:Class NCBITaxon:5721 biolink:NamedThing Trichomonas tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006812 biolink:NamedThing intracranial vasospasm Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). tmpak2llvmy_mondo_relaxed.owl MESH:D020301|EFO:1000994|DOID:13100|UMLS:C0751895 owl:Class GO:0043243 biolink:NamedThing positive regulation of protein-containing complex disassembly Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl upregulation of protein complex disassembly|stimulation of protein complex disassembly|up regulation of protein complex disassembly|up-regulation of protein complex disassembly|positive regulation of protein complex disassembly|activation of protein complex disassembly owl:Class GO:0045860 biolink:NamedThing positive regulation of protein kinase activity Any process that activates or increases the frequency, rate or extent of protein kinase activity. tmpak2llvmy_mondo_relaxed.owl up-regulation of protein kinase activity|up regulation of protein kinase activity|stimulation of protein kinase activity|upregulation of protein kinase activity owl:Class GO:0033674 biolink:NamedThing positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl kinase activator|up-regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity|up regulation of kinase activity owl:Class MONDO:0004782 biolink:NamedThing diabetes insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. tmpak2llvmy_mondo_relaxed.owl ICD10:E23.2|DOID:9409|UMLS:C0011848|NCIT:C43263|GARD:0011934|ICD9:253.5|MESH:D003919|SCTID:15771004 owl:Class MONDO:0009998 biolink:NamedThing Richieri Costa-Pereira syndrome Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Richieri Costa-Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|Richieri Costa Pereira syndrome|ROBIN sequence with cleft mandible and limb anomalies|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri-Costa-Pereira syndrome SCTID:723998001|Orphanet:3102|GARD:0004718|UMLS:C1849348|MESH:C535677|ICD10:Q87.8|OMIM:268305 https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome owl:Class GO:2001022 biolink:NamedThing positive regulation of response to DNA damage stimulus Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. tmpak2llvmy_mondo_relaxed.owl positive regulation of response to genotoxic stress|positive regulation of cellular DNA damage response|positive regulation of DNA damage response|positive regulation of cellular response to DNA damage stimulus owl:Class MONDO:0005660 biolink:NamedThing Avulavirus infectious disease Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. tmpak2llvmy_mondo_relaxed.owl EFO:0007161|MESH:D045463|UMLS:C1258034 owl:Class GO:0016881 biolink:NamedThing acid-amino acid ligase activity Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpak2llvmy_mondo_relaxed.owl peptide synthase activity owl:Class GO:0016879 biolink:NamedThing ligase activity, forming carbon-nitrogen bonds Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpak2llvmy_mondo_relaxed.owl other carbon-nitrogen ligase activity owl:Class MONDO:0007197 biolink:NamedThing bladder diverticulum tmpak2llvmy_mondo_relaxed.owl bladder diverticulum (disease)|diverticulum of bladder|bladder diverticulum|diverticulum - bladder bladder diverticulum (disease) DOID:11353|ICD9:596.3|MESH:C562406|OMIM:109820|SCTID:197866008|HP:0000015|ICD10:N32.3 owl:Class UBERON:0036289 biolink:NamedThing anterior wall of right ventricle Region of wall of right ventricle which is continuous with the lateral and septal walls of right ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036286 biolink:NamedThing wall of right ventricle Wall of ventricle which is continuous with the wall of pulmonary trunk. tmpak2llvmy_mondo_relaxed.owl right ventricular wall owl:Class NCBITaxon:85004 biolink:NamedThing Bifidobacteriales tmpak2llvmy_mondo_relaxed.owl PMID:19244447|PMID:27446019|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1760 biolink:NamedThing Actinomycetia tmpak2llvmy_mondo_relaxed.owl Actinobacteria|high G+C Gram-positive bacteria|Actinomycetes|high GC Gram+|High GC gram-positive bacteria GC_ID:11|PMID:10028260|PMID:11321122|PMID:11155976|PMID:19244447|PMID:30186281|PMID:28840812 NCBITaxon:85003 ncbi_taxonomy owl:Class MONDO:0018825 biolink:NamedThing PYCR2-related microcephaly-progressive leukoencephalopathy PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. tmpak2llvmy_mondo_relaxed.owl Orphanet:481152 owl:Class MONDO:0017119 biolink:NamedThing syndrome with microcephaly as major feature tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN202469|Orphanet:269528 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0009175 biolink:NamedThing eosinophilic fasciitis Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. tmpak2llvmy_mondo_relaxed.owl eosinophilic fasciitis|eosinophilic fasciitis (disease)|diffuse fasciitis with eosinophilia|EF|Shulman syndrome eosinophilic fasciitis (disease) GARD:0006351|NCIT:C112116|Orphanet:3165|HP:0045029|OMIM:226350|UMLS:C0264005|SCTID:24129002|ICD9:728.89|ICD10:M35.4|MedDRA:10014954 owl:Class MONDO:0020122 biolink:NamedThing acquired idiopathic inflammatory myopathy An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. tmpak2llvmy_mondo_relaxed.owl idiopathic inflammatory myopathy, familial|idiopathic inflammatory myopathies|IMM|idiopathic inflammatory myositis|IIm SCTID:702380008|UMLS:C0751356|ICD9:359.79|GARD:0009128|Orphanet:98482|NCIT:C116796 owl:Class MONDO:0019626 biolink:NamedThing isolated ankyloblepharon filiforme adnatum Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. tmpak2llvmy_mondo_relaxed.owl Orphanet:91397|ICD10:Q10.3 owl:Class MONDO:0020155 biolink:NamedThing eyelid border anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98564 owl:Class UBERON:0004924 biolink:NamedThing submucosa of pharynx The tissue underlying the tunica mucosa of the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal submucosa|tela submucosa pharyngea|pharyngobasilar fascia|pharynx submucosa|submucous coat of pharynx|tela submucosa pharyngis|submucous layer of pharynx owl:Class UBERON:0018257 biolink:NamedThing submucosa of digestive tract Any portion of submucosa that lines the digestive tract. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:54281 biolink:NamedThing Chrysomyini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43913 biolink:NamedThing Chrysomyinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001466 biolink:NamedThing punctate epithelial keratoconjunctivitis tmpak2llvmy_mondo_relaxed.owl Thygeson superficial punctate keratitis|punctate keratitis|Thygeson's superficial punctate keratitis ICD9:370.21|UMLS:C0259799|SCTID:416069001|DOID:12197|ICD10:H16.14 owl:Class MONDO:0002652 biolink:NamedThing anus adenocarcinoma An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the anus|anal adenocarcinoma|anus adenocarcinoma|adenocarcinoma of anus UMLS:C1332257|SCTID:423607006|DOID:3447|NCIT:C5600 owl:Class MONDO:0003199 biolink:NamedThing anal carcinoma A carcinoma that arises from epithelial cells of the anus tmpak2llvmy_mondo_relaxed.owl cancer of the anus|anus carcinoma|Ca anus|carcinoma of the anus|cancer of anus|anal cancer|carcinoma of anus|anal carcinoma DOID:4908|NCIT:C9291|UMLS:C0279637|SCTID:448315008 owl:Class MONDO:0019471 biolink:NamedThing adult T-cell leukemia/lymphoma A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. tmpak2llvmy_mondo_relaxed.owl ATLL|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|HTLV-1 associated adult T-cell lymphoma/leukemia|adult T-cell lymphoma/leukemia|adult T-cell leukemia/lymphoma|adult T-cell leukaemia|HTLV-I associated adult T-cell leukemia/lymphoma|adult T-cell leukemia|adult T-cell lymphoma|adult T cell lymphoma/leukemia|T-cell leukemia of adults ICD10:C91.5|Orphanet:86875|GARD:0013103|DOID:0050523|UMLS:C0023493|ICDO:9827/3|NCIT:C3184|ICD9:204.80|ICD10:C91.50|ONCOTREE:ATLL|MedDRA:10001413|SCTID:110007008 owl:Class MONDO:0021184 biolink:NamedThing deltaretrovirus infections Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). tmpak2llvmy_mondo_relaxed.owl infections, Deltaretrovirus|HTLV infection|HTLV BLV infections|BLV infections|Deltaretrovirus infection|infection, Deltaretrovirus|HTLV infections|HTLV-BLV infections|HTLV-BLV infection|BLV infection MESH:D006800 owl:Class GO:0002894 biolink:NamedThing positive regulation of type II hypersensitivity Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity. tmpak2llvmy_mondo_relaxed.owl activation of type II hypersensitivity|stimulation of type II hypersensitivity|up regulation of type II hypersensitivity|up-regulation of type II hypersensitivity|upregulation of type II hypersensitivity owl:Class GO:0002891 biolink:NamedThing positive regulation of immunoglobulin mediated immune response Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpak2llvmy_mondo_relaxed.owl up-regulation of immunoglobulin mediated immune response|up regulation of immunoglobulin mediated immune response|activation of immunoglobulin mediated immune response|stimulation of immunoglobulin mediated immune response|upregulation of immunoglobulin mediated immune response owl:Class MONDO:0003468 biolink:NamedThing biphasic synovial sarcoma A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. tmpak2llvmy_mondo_relaxed.owl synovial sarcoma, biphasic|biphasic sarcoma of the synovium|synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of synovium NCIT:C4279|UMLS:C0334507|ICDO:9043/3|DOID:5492 owl:Class MONDO:0010434 biolink:NamedThing synovial sarcoma Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). tmpak2llvmy_mondo_relaxed.owl sarcoma, synovial, malignant|synovial sarcoma (disease)|Synovialosarcoma|SS|synovial sarcoma|sarcoma, synovial synovial sarcoma (disease) ICD10:C49.9|MedDRA:10042863|OMIM:300813|SCTID:302851001|GARD:0007721|DOID:5485|EFO:0001376|Orphanet:3273|ONCOTREE:SYNS|NCIT:C3400|HP:0012570|MESH:D013584|ICD9:171.9|ICDO:9040/3|UMLS:C0039101 owl:Class UBERON:0007254 biolink:NamedThing intervertebral disk of thoracic vertebra An intervertebral disk that is part of a thoracic region of vertebral column. A thoracic intervertebral disk connects at least one thoracic vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a lumbar vertebra tmpak2llvmy_mondo_relaxed.owl intervertebral disc of thoracic region owl:Class GO:0045717 biolink:NamedThing negative regulation of fatty acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpak2llvmy_mondo_relaxed.owl down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid synthesis|down regulation of fatty acid biosynthetic process|negative regulation of fatty acid formation|negative regulation of fatty acid biosynthesis|downregulation of fatty acid biosynthetic process|negative regulation of fatty acid anabolism|inhibition of fatty acid biosynthetic process owl:Class GO:0051055 biolink:NamedThing negative regulation of lipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpak2llvmy_mondo_relaxed.owl negative regulation of lipid biosynthesis|negative regulation of lipogenesis|negative regulation of lipid formation|negative regulation of lipid anabolism|down regulation of lipid biosynthetic process|downregulation of lipid biosynthetic process|down-regulation of lipid biosynthetic process|negative regulation of lipid synthesis|inhibition of lipid biosynthetic process owl:Class HP:0011873 biolink:NamedThing Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:165558001|UMLS:C0580317 peter 2012-05-30T08:11:13Z human_phenotype owl:Class HP:0001872 biolink:NamedThing Abnormal thrombocyte morphology An abnormality of platelets. tmpak2llvmy_mondo_relaxed.owl Platelet abnormalities|Thrombasthenia|Blood platelet disease MSH:D013915|SNOMEDCT_US:32942005|UMLS:C0040015|SNOMEDCT_US:127566005|UMLS:C4020863|UMLS:C0151854 Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. HP:0004807|HP:0005554 human_phenotype owl:Class MONDO:0011975 biolink:NamedThing paternal uniparental disomy of chromosome 14 tmpak2llvmy_mondo_relaxed.owl UPD(14)pat|paternal uniparental disomy 14|paternal uniparental disomy of chromosome type 14|KAGAMI-Ogata syndrome|uniparental disomy, paternal, chromosome 14|paternal uniparental disomy of chromosome 14 ICD10:Q99.8|Orphanet:96334|UMLS:C1842466|OMIM:608149|GARD:0005409|MESH:C536471 https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 owl:Class MONDO:0700086 biolink:NamedThing uniparental disomy A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. tmpak2llvmy_mondo_relaxed.owl NCIT:C85215 http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:3693 biolink:NamedThing FGFRL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016175 biolink:NamedThing cutis laxa Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. tmpak2llvmy_mondo_relaxed.owl generalized elastolysis|cutis laxa|loose skin|elastolysis UMLS:C0010495|MESH:D003483|Orphanet:209|ICD10:Q82.8|GARD:0006227|DOID:3144|SCTID:58588007|NCIT:C84663|MedDRA:10011692 https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa owl:Class MONDO:0002258 biolink:NamedThing pharyngitis Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. tmpak2llvmy_mondo_relaxed.owl inflammation of throat|persistent sore throat|pharyngeal disease|Sore throat - chronic|acute sore throat|chronic pharyngitis|chronic pharyn/nasopharyngitis|pharyngitis - acute|acute pharyngitis|pharyngeal disorder|chronic pharyngitis and nasopharyngitis|Sore throat|chronic sore throat|inflamed throat|throat inflammation ICD10:J02|MESH:D010612|ICD9:462|ICD10:J02.9|NCIT:C26851|UMLS:C0031350|DOID:2275|ICD9:478.20|SCTID:405737000|ICD9:472 owl:Class MONDO:0007254 biolink:NamedThing breast cancer A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. tmpak2llvmy_mondo_relaxed.owl malignant breast tumor|malignant tumor of breast|malignant breast neoplasm|mammary cancer|cancer of breast|breast cancer|mammary tumor|malignant neoplasm of the breast|malignant neoplasm of breast|primary breast cancer|malignant tumor of the breast|mammary neoplasm|breast tumor DOID:1612|SCTID:254837009|ICD10:C50-C50|ICD9:174.8|NCIT:C9335|ICD10:C50 owl:Class MONDO:0014589 biolink:NamedThing maturity-onset diabetes of the young type 13 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. tmpak2llvmy_mondo_relaxed.owl MODY13|KCNJ11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|maturity-onset diabetes of the young, type 13|MODY, type 13|MODY type 13 UMLS:C4225365|OMIM:616329|DOID:0111110 owl:Class MONDO:0044643 biolink:NamedThing congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Orphanet:495875 owl:Class MONDO:0021385 biolink:NamedThing extrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct neoplasm (disease)|neoplasm of extrahepatic bile duct|tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm|tumor of the extrahepatic bile duct|neoplasm of the extrahepatic bile duct|extrahepatic bile duct tumor NCIT:C4441|SCTID:126855001|UMLS:C0345913 https://github.com/monarch-initiative/mondo/issues/3673 owl:Class MONDO:0021662 biolink:NamedThing bile duct neoplasm A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. tmpak2llvmy_mondo_relaxed.owl bile duct tumor|intrahepatic and extrahepatic bile duct neoplasm|bile duct neoplasm (disease)|intrahepatic and extrahepatic bile duct tumor|bile duct neoplasm|neoplasm of bile duct|tumor of bile duct UMLS:C0005396|NCIT:C2898 owl:Class MONDO:0011679 biolink:NamedThing craniosynostosis syndrome, autosomal recessive Autosomal recessive form of craniosynostosis. tmpak2llvmy_mondo_relaxed.owl craniosynostosis, autosomal recessive|craniosynostosis syndrome, autosomal recessive|autosomal recessive craniosynostosis MESH:C564700|OMIM:606529|UMLS:C1847865 owl:Class MONDO:0005536 biolink:NamedThing pancolitis Ulcerative colitis that involves the entire colon. tmpak2llvmy_mondo_relaxed.owl universal colitis|pan-ulcerative colitis EFO:0005626 owl:Class MONDO:0005101 biolink:NamedThing ulcerative colitis An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. tmpak2llvmy_mondo_relaxed.owl ulcerative colitis (disease)|colitis ulcerative|ulcerative colitis|left-sided ulcerative colitis ulcerative colitis (disease) UMLS:C0009324|ICD9:556.9|ICD9:556.5|ICD10:K51.9|SCTID:64766004|ICD10:K51|HP:0100279|MESH:D003093|NCIT:C2952|ICD9:556.8|ICD9:556|DOID:8577|EFO:0000729 owl:Class MONDO:0044323 biolink:NamedThing Rahman syndrome Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}). tmpak2llvmy_mondo_relaxed.owl Rahman syndrome|RMNS OMIM:617537|UMLS:C4479637 owl:Class MONDO:0014474 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2U Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency|muscular dystrophy limb-girdle type 2U|ISPD autosomal recessive limb-girdle muscular dystrophy|LGMD2U|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|MDDGC7|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|muscular dystrophy, limb-girdle, type 2U Orphanet:352479|UMLS:C4015095|OMIM:616052|DOID:0110295|ICD10:G71.0 owl:Class MONDO:0011149 biolink:NamedThing premature aging syndrome, Okamoto type tmpak2llvmy_mondo_relaxed.owl premature aging syndrome, Okamoto type|premature aging Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay OMIM:601811|UMLS:C1866183|GARD:0004478|MESH:C566621 owl:Class MONDO:0019844 biolink:NamedThing pituitary hormone deficiency secondary to storage disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN206788|Orphanet:95618 Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 owl:Class MONDO:0015127 biolink:NamedThing pituitary deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E23.0|Orphanet:101957 Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes owl:Class MONDO:0006432 biolink:NamedThing stromal predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. tmpak2llvmy_mondo_relaxed.owl stromal predominant kidney Wilms tumor|stromal predominant kidney Wilms' tumor|stromal predominant renal Wilms tumor|stromal predominant kidney adenosarcoma|stromal predominant nephroblastoma|stromal predominant Wilms tumor|stromal predominant renal Wilm's tumor|stromal predominant renal adenosarcoma|stromal predominant renal Wilms' tumor DOID:5191|UMLS:C0279610|NCIT:C9148|EFO:1000551 owl:Class MONDO:0019004 biolink:NamedThing kidney Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. tmpak2llvmy_mondo_relaxed.owl nonanaplastic renal Wilm's tumor|Wilms tumor|renal Wilms' tumor|kidney Wilms tumor|adult nephroblastoma|renal embryonic tumor|nephroblastoma|childhood renal Wilms tumor|childhood renal Wilms' cancer|embryonal nephroma|Wilms' tumor of the kidney|renal Wilms tumor|Wilms tumor of the kidney|nephroblastoma, malignant|Wilms' tumor DOID:2154|Orphanet:654|ONCOTREE:WT|DOID:5176|ICDO:8960/3|UMLS:C0027708|SCTID:302849000|MedDRA:10029145|NCIT:C40407|ICD10:C64 owl:Class UBERON:0003426 biolink:NamedThing dermis adipose tissue An adipose tissue that is part of a dermis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dermis fatty tissue|fatty tissue of dermis|adipose tissue of dermis|dermis fat tissue|fat tissue of dermis owl:Class UBERON:0001013 biolink:NamedThing adipose tissue Portion of connective tissue composed of adipocytes enmeshed in areolar tissue tmpak2llvmy_mondo_relaxed.owl adipose|fat tissue|fatty tissue|fat|fatty depot|bodyfat owl:Class MONDO:0012151 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl Adhd3|attention Deficit-hyperactivity disorder, susceptibility to, type 3|attention deficit-hyperactivity disorder, susceptibility to, 3 OMIM:608905 owl:Class MONDO:0007743 biolink:NamedThing attention deficit-hyperactivity disorder A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. tmpak2llvmy_mondo_relaxed.owl attention deficit-hyperactivity disorder|attention deficit/hyperactivity disorder|hyperactivity of childhood|attention deficit hyperactivity disorder|ADHD NCIT:C97160|OMIM:143465 owl:Class MONDO:0013305 biolink:NamedThing autosomal dominant nonsyndromic deafness 51 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 51|DFNA51|deafness, autosomal dominant type 51|autosomal dominant deafness 51|autosomal dominant nonsyndromic deafness type 51|chromosome 9q21.11 duplication syndrome|chromosome 9Q21.11 Duplication syndrome OMIM:613558|DOID:0110577|ICD10:H90.3|UMLS:C3160736 owl:Class MONDO:0004090 biolink:NamedThing vulvar basaloid squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm. tmpak2llvmy_mondo_relaxed.owl vulvar basaloid carcinoma|vulvar basaloid squamous cell carcinoma NCIT:C40286|DOID:7048|UMLS:C2211850 owl:Class MONDO:0024873 biolink:NamedThing clitoral carcinoma A carcinoma that arises from the clitoris. tmpak2llvmy_mondo_relaxed.owl carcinoma of the clitoris|clitoris carcinoma|carcinoma of clitoris|clitoral cancer|clitoral carcinoma NCIT:C9362|UMLS:C1333070 owl:Class MONDO:0002290 biolink:NamedThing clitoris cancer A malignant neoplasm that affects the clitoris. tmpak2llvmy_mondo_relaxed.owl malignant clitoris neoplasm|malignant tumor of the clitoris|malignant tumor of clitoris|carcinoma of clitoris|malignant clitoral tumor|malignant clitoral neoplasm|malignant clitoris tumor|malignant neoplasm of the clitoris|clitoris cancer|cancer of clitoris|malignant neoplasm of clitoris|clitoral Ca ICD9:184.3|SCTID:371979001|NCIT:C3557|UMLS:C0153589|ICD10:C51.2|DOID:2401 owl:Class GO:0006487 biolink:NamedThing protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. tmpak2llvmy_mondo_relaxed.owl protein amino acid N-linked glycosylation|N-glycan metabolism|N-glycan biosynthesis owl:Class GO:0006486 biolink:NamedThing protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpak2llvmy_mondo_relaxed.owl protein-carbohydrate complex assembly|protein amino acid glycosylation owl:Class MONDO:0001628 biolink:NamedThing tinea unguium A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. tmpak2llvmy_mondo_relaxed.owl cellulitis and abscess of buttock|cellulitis and abscess of gluteal region|cellulitis and abscess|dermatophytic onychomycosis|cellulitis and abscess of trunk|cellulitis and abscess of finger and toe|nail dermatophytosis|dermatophytic onychia|cellulitis and abscess of upper arm and forearm|onychomycosis due to dermatophyte|cellulitis and abscess of face|onychomycosis|cellulitis and abscess of finger|tinea unguium|dermatophytosis of nail ICD9:681.9|UMLS:C0157696|ICD10:B35.1|UMLS:C0157701|UMLS:C0040261|UMLS:C0157698|DOID:13074|UMLS:C4082762|UMLS:C0157691|MESH:D014009|NCIT:C112214|UMLS:C0157690 owl:Class MONDO:0001854 biolink:NamedThing lacrimal apparatus disease A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of lacrimal apparatus|disorder of lacrimal system|lacrimal system disorder|lacrimal apparatus disease or disorder|lachrymal system disorders|lacrimal apparatus disease|disorder of lacrimal apparatus|disease of lacrimal apparatus|lacrimal system disease ICD9:375.69|ICD10:H04.9|NCIT:C26809|SCTID:31053003|DOID:1400|ICD10:H04|ICD9:375.9|ICD9:375|ICD9:375.89 owl:Class MONDO:0025445 biolink:NamedThing Wieacker-Wolff syndrome (spectrum) tmpak2llvmy_mondo_relaxed.owl OMIMPS:314580 Grouping for the X-linked form seen mostly in males and female-restricted owl:Class MONDO:0005334 biolink:NamedThing hereditary nephritis A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. tmpak2llvmy_mondo_relaxed.owl hereditary nephritis|familial nephritis|nephritis, familial EFO:0004128|MESH:D009394|SCTID:399340005 owl:Class MONDO:0001166 biolink:NamedThing nephritis Inflammation of renal tissue. tmpak2llvmy_mondo_relaxed.owl inflammation of kidney|kidney inflammation ICD9:583.7|DOID:10952|ICD10:N08|NCIT:C26833|MESH:D009393|ICD9:583.89|SCTID:52845002|ICD9:583.9|UMLS:C0027697|ICD10:N05 owl:Class UBERON:0003914 biolink:NamedThing epithelial tube Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpak2llvmy_mondo_relaxed.owl epithelial or endothelial tube owl:Class HGNC:3413 biolink:NamedThing EPM2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002586 biolink:NamedThing thymus cancer A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. tmpak2llvmy_mondo_relaxed.owl cancer of Thymus|cancer of the Thymus|malignant Thymus tumor|malignant neoplasm of thymus|malignant thymus neoplasm|cancer of thymus|thymic tumor|malignant Thymus neoplasm|malignant neoplasm of Thymus|malignant tumor of the Thymus|thymus cancer|Thymus cancer|malignant neoplasm of the Thymus|malignant tumor of Thymus|thymic neoplasm DOID:3277|ICD9:164.0|ICD10:C37|SCTID:363434003|NCIT:C4962|UMLS:C0751552 owl:Class UBERON:0009142 biolink:NamedThing entire embryonic mesenchyme Sum total of mesenchyme in the embryo. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014054 biolink:NamedThing positive regulation of gamma-aminobutyric acid secretion Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpak2llvmy_mondo_relaxed.owl up-regulation of gamma-aminobutyric acid secretion|up regulation of gamma-aminobutyric acid secretion|stimulation of gamma-aminobutyric acid secretion|activation of gamma-aminobutyric acid secretion|positive regulation of GABA secretion|upregulation of gamma-aminobutyric acid secretion owl:Class NCBITaxon:6202 biolink:NamedThing Taenia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6208 biolink:NamedThing Taeniidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0002863 biolink:NamedThing positive regulation of inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl upregulation of inflammatory response to antigenic stimulus|activation of inflammatory response to antigenic stimulus|stimulation of inflammatory response to antigenic stimulus|up regulation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus owl:Class HGNC:9461 biolink:NamedThing PRPH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000181 biolink:NamedThing microcephaly and chorioretinopathy tmpak2llvmy_mondo_relaxed.owl OMIMPS:251270 Note that OMIM has two PS that appear to refer to the same thing owl:Class MONDO:0004674 biolink:NamedThing chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. tmpak2llvmy_mondo_relaxed.owl chorioretinitis (disease)|retinochoroiditis|chorioretinitis chorioretinitis (disease) ICD9:363.20|SCTID:46627006|HP:0012424|DOID:8886|UMLS:C0008513|MESH:D002825|ICD10:H30.9|ICD10:H30|NCIT:C110923|GARD:0006060 owl:Class GO:1905125 biolink:NamedThing positive regulation of glucosylceramidase activity Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity. tmpak2llvmy_mondo_relaxed.owl activation of beta-D-glucocerebrosidase activity|up regulation of acid beta-glucosidase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of beta-glucosylceramidase activity|up-regulation of ceramide glucosidase activity|positive regulation of acid beta-glucosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of beta-glucosylceramidase activity|positive regulation of glucocerebrosidase activity|upregulation of glucosphingosine glucosylhydrolase activity|upregulation of glucosylceramidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|positive regulation of glucosphingosine glucosylhydrolase activity|upregulation of psychosine hydrolase activity|up regulation of beta-D-glucocerebrosidase activity|up regulation of beta-glucosylceramidase activity|up regulation of glucosylceramidase activity|positive regulation of beta-glucosylceramidase activity|up-regulation of glucocerebrosidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of psychosine hydrolase activity|activation of glucosylceramidase activity|upregulation of GlcCer-beta-glucosidase activity|upregulation of glucocerebrosidase activity|positive regulation of psychosine hydrolase activity|activation of glucosylcerebrosidase activity|up regulation of glucocerebrosidase activity|positive regulation of beta-glucocerebrosidase activity|positive regulation of GCase activity|upregulation of beta-D-glucocerebrosidase activity|upregulation of ceramide glucosidase activity|up-regulation of GlcCer-beta-glucosidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|up-regulation of glucosylcerebrosidase activity|activation of beta-glucocerebrosidase activity|positive regulation of beta-D-glucocerebrosidase activity|activation of GlcCer-beta-glucosidase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of glucosylcerebrosidase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|upregulation of glucosylcerebrosidase activity|activation of ceramide glucosidase activity|activation of glucosylsphingosine beta-glucosidase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of beta-glucosylceramidase activity|up regulation of ceramide glucosidase activity|up-regulation of psychosine hydrolase activity|activation of glucosylsphingosine beta-D-glucosidase activity|activation of glucocerebrosidase activity|upregulation of beta-glucocerebrosidase activity|activation of psychosine hydrolase activity|up-regulation of acid beta-glucosidase activity|positive regulation of GlcCer-beta-glucosidase activity|up regulation of glucosylsphingosine beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of beta-glucocerebrosidase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|upregulation of acid beta-glucosidase activity|activation of acid beta-glucosidase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|activation of glucosphingosine glucosylhydrolase activity|up regulation of glucosphingosine glucosylhydrolase activity|up-regulation of beta-D-glucocerebrosidase activity|up-regulation of glucosylceramidase activity|up-regulation of beta-glucocerebrosidase activity|positive regulation of glucosylcerebrosidase activity|up-regulation of glucosylsphingosine beta-D-glucosidase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|positive regulation of ceramide glucosidase activity owl:Class GO:1905123 biolink:NamedThing regulation of glucosylceramidase activity Any process that modulates the frequency, rate or extent of glucosylceramidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of acid beta-glucosidase activity|regulation of GCase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of ceramide glucosidase activity|regulation of GlcCer-beta-glucosidase activity|regulation of beta-glucosylceramidase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of glucocerebrosidase activity|regulation of psychosine hydrolase activity|regulation of glucosylcerebrosidase activity|regulation of beta-glucocerebrosidase activity|regulation of beta-D-glucocerebrosidase activity|regulation of glucosylsphingosine beta-glucosidase activity owl:Class CL:0000152 biolink:NamedThing exocrine cell A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct. tmpak2llvmy_mondo_relaxed.owl FMA:16014 cell owl:Class CHEBI:25196 biolink:NamedThing mercury molecular entity tmpak2llvmy_mondo_relaxed.owl mercury molecular entities|mercury compounds owl:Class CHEBI:46663 biolink:NamedThing silicate mineral tmpak2llvmy_mondo_relaxed.owl silicatos|silicate minerals|silicato|Silikat|silicates|Silikate|Silikatminerale owl:Class CHEBI:46662 biolink:NamedThing mineral In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals'). tmpak2llvmy_mondo_relaxed.owl minerals|minerales|mineraux|mineral|Minerale owl:Class GO:1905554 biolink:NamedThing negative regulation of vessel branching Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching. tmpak2llvmy_mondo_relaxed.owl downregulation of branching involved in blood vessel morphogenesis|inhibition of patterning of blood vessels|down-regulation of branching involved in blood vessel morphogenesis|negative regulation of branching involved in blood vessel morphogenesis|inhibition of branching involved in blood vessel morphogenesis|down-regulation of patterning of blood vessels|down regulation of branching involved in blood vessel morphogenesis|downregulation of patterning of blood vessels|down regulation of patterning of blood vessels owl:Class GO:1905331 biolink:NamedThing negative regulation of morphogenesis of an epithelium Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. tmpak2llvmy_mondo_relaxed.owl downregulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis|inhibition of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|inhibition of epithelium morphogenesis|down regulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|down-regulation of morphogenesis of an epithelium|down-regulation of epithelium morphogenesis owl:Class MONDO:0024458 biolink:NamedThing disease of visual system A disease that involves the visual system. tmpak2llvmy_mondo_relaxed.owl disorder of visual system|disease or disorder of visual system|disease of visual system|visual system disease|visual system disease or disorder|visual system disorder SCTID:128127008 owl:Class MONDO:0012183 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl CMM3|melanoma, cutaneous malignant, susceptibility to, 3|melanoma, cutaneous malignant, susceptibility to, type 3|susceptibility to cutaneous malignant melanoma 3 OMIM:609048 owl:Class GO:0002826 biolink:NamedThing negative regulation of T-helper 1 type immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. tmpak2llvmy_mondo_relaxed.owl down regulation of T-helper 1 type immune response|downregulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response|down-regulation of T-helper 1 type immune response owl:Class GO:0002825 biolink:NamedThing regulation of T-helper 1 type immune response Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001757 biolink:NamedThing pinna The part of the ear that projects from the head, connecting to the external acoustic meatus. tmpak2llvmy_mondo_relaxed.owl auricle|pinnae|auricula (auris externa)|auricle of external ear|pinna of ear|auricle of ear|auricula owl:Class MONDO:0009188 biolink:NamedThing epilepsy-telangiectasia syndrome Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl epilepsy telangiectasia|epilepsy-telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency OMIM:226850|Orphanet:1951|GARD:0002168|ICD10:G40.8|MESH:C535497|UMLS:C1856929 owl:Class MONDO:0044743 biolink:NamedThing major salivary gland cancer A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the major salivary gland|cancer of major salivary gland|malignant neoplasm of major salivary glands|malignant neoplasm of Major salivary gland|malignant major salivary gland neoplasm|malignant major salivary gland tumor|malignant tumor of major salivary gland|malignant neoplasm of the Major salivary gland|malignant neoplasm of major salivary gland NCIT:C4762|UMLS:C0496763|SCTID:363378008 owl:Class MONDO:0018770 biolink:NamedThing Jeune syndrome Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. tmpak2llvmy_mondo_relaxed.owl Chondroectodermal dysplasia-like syndrome|short-rib thoracic dysplasia with or without polydactyly|ATD|short-rib thoracic dysplasia|Jeune asphyxiating thoracic dystrophy|thoracic pelvic phalangeal dystrophy|JATD|Jeune's syndrome|asphyxiating thoracic dystrophy of the newborn|infantile thoracic dystrophy|asphyxiating thoracic dystrophy|Jeune syndrome UMLS:C0265275|Orphanet:474|SCTID:75049004|DOID:0050592|GARD:0003049|OMIMPS:208500|NCIT:C84794|ICD10:Q77.2|MESH:C537571|MedDRA:10057621 owl:Class MONDO:0022409 biolink:NamedThing nephropathy-associated ciliopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:156162 owl:Class UBERON:0004998 biolink:NamedThing mucosa of pylorus A mucosa that is part of a pylorus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of pylorus|mucosa of pyloric part of stomach|pylorus organ mucosa|pyloric part of stomach mucosa|organ mucosa of pylorus|mucosa of organ of stomach pyloric region|pyloric part of stomach organ mucosa|mucosa of stomach pyloric region|mucous membrane of stomach pyloric region|pyloric part of stomach mucous membrane|organ mucosa of stomach pyloric region|stomach pyloric region organ mucosa|pyloric part of stomach mucosa of organ|mucous membrane of pylorus|stomach pyloric region mucosa of organ|mucosa of organ of pyloric part of stomach|stomach pyloric region mucosa|stomach pyloric region mucous membrane|pylorus mucosa of organ|pylorus mucous membrane|antropyloric mucosa|pylorus mucosa|mucous membrane of pyloric part of stomach|organ mucosa of pyloric part of stomach owl:Class UBERON:0009708 biolink:NamedThing dorsal pancreas tmpak2llvmy_mondo_relaxed.owl pancreatis dorsalis owl:Class MONDO:0006589 biolink:NamedThing occupational dermatitis Contact dermatitis associated with allergens or irritants found in the workplace. tmpak2llvmy_mondo_relaxed.owl occupational eczema|occupational allergic contact dermatitis|occupational dermatitis|occupational eczema (disorder) [ambiguous] SCTID:402587003|ICD9:692.9|MESH:D009783|EFO:1000744|NCIT:C34859|DOID:4404|UMLS:C0028796 owl:Class MONDO:0100366 biolink:NamedThing occupational disorder Any disorder that is realized in response to an exposure to occupation. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3061 owl:Class MONDO:0043143 biolink:NamedThing microphthalmia microtia fetal akinesia tmpak2llvmy_mondo_relaxed.owl fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus|Thomas-Jewett-Raines syndrome|microphthalmia-microtia-fetal akinesia|Thomas Jewett Raines syndrome UMLS:C2931224|GARD:0003650|Orphanet:2547|MESH:C536513 owl:Class MONDO:0016073 biolink:NamedThing syndromic microphthalmia A microphthalmia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with microphthalmia|microphthalmia, syndromic|syndromic microphthalmia DOID:0080636|Orphanet:202948|OMIMPS:309800|UMLS:CN226833 owl:Class GO:0090327 biolink:NamedThing negative regulation of locomotion involved in locomotory behavior Any process that decreases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012504 biolink:NamedThing camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. tmpak2llvmy_mondo_relaxed.owl camptodactyly, tall stature, and hearing loss syndrome|CATSHL syndrome|CATSHLS MESH:C537975|GARD:0010012|Orphanet:85164|OMIM:610474|DOID:0111160|UMLS:C1864852|ICD10:Q87.2 owl:Class UBERON:0001032 biolink:NamedThing sensory system Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. tmpak2llvmy_mondo_relaxed.owl set of sense organs|organa sensuum|sense organs|sensory subsystem|sense organs set|sensory systems|sensory organ system|sense organ subsystem owl:Class UBERON:0000467 biolink:NamedThing anatomical system Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. tmpak2llvmy_mondo_relaxed.owl organ system|anatomical systems|body system|connected anatomical system|system owl:Class MONDO:0000297 biolink:NamedThing baylisascariasis An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. tmpak2llvmy_mondo_relaxed.owl raccoon roundworm infection|Baylisascaris procyonis disease or disorder|Baylisascaris procyonis caused disease or disorder|Baylisascaris procyonis infectious disease DOID:0050259|UMLS:C0162626|NCIT:C128397|UMLS:C0277150 owl:Class MONDO:0005656 biolink:NamedThing Ascaridida infectious disease Infections with nematodes of the order ascaridida. tmpak2llvmy_mondo_relaxed.owl infection, Ascaridida|Ascaridida infection|infections, Ascaridida|Ascaridida disease or disorder|Ascaridida caused disease or disorder MESH:D017191|EFO:0007156 owl:Class MONDO:0014119 biolink:NamedThing intellectual disability-strabismus syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 36|mental retardation, autosomal recessive type 36|MRT36|intellectual disability, autosomal recessive type 36|intellectual disability, autosomal recessive 36 OMIM:615286|Orphanet:363528|ICD10:H50.8|UMLS:C3809039 owl:Class MONDO:0015279 biolink:NamedThing chronic mucocutaneous candidiasis tmpak2llvmy_mondo_relaxed.owl CMC|chronic mucocutaneous candidiasis|chronic mucocutaneous candidiasis (disease)|familial chronic mucocutaneous candidiasis|familial candidiasis|familial CMC|CANDF chronic mucocutaneous candidiasis (disease) NCIT:C34444|HP:0002728|OMIMPS:114580|DOID:2058|MedDRA:10009007|Orphanet:1334|ICD10:B37.2|UMLS:C0006845|MESH:D002178|SCTID:234568006 owl:Class MONDO:0019305 biolink:NamedThing immune deficiency with skin involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:79391 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immune system disease' MONDO_0005046 owl:Class UBERON:0004323 biolink:NamedThing middle phalanx of manual digit 5 A middle phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl 5th finger middle phalanx|intermediate phalanx of hand digit 5|middle phalanx of fifth digit of hand|fifth middle phalanx of hand|middle phalanx of 5th digit of hand|intermediate phalanx of 5th finger|intermediate phalanx of 5th digit of hand|fifth finger middle phalanx|5th digit of hand intermediate phalanx|fifth finger intermediate phalanx|5th finger intermediate phalanx|intermediate phalanx of fifth finger|middle phalanx of fifth finger|hand digit 5 intermediate phalanx|middle phalanx of manual digit V|middle phalanx of 5th finger|5th digit of hand middle phalanx|hand digit 5 middle phalanx|middle phalanx of little finger owl:Class UBERON:0004301 biolink:NamedThing middle phalanx A phalanx located between proximal and distal phalanges. tmpak2llvmy_mondo_relaxed.owl intermediate phalanx|medial phalanx|phalanx 2|penultimate phalanx|phalanx II owl:Class GO:0005589 biolink:NamedThing collagen type VI trimer A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005581 biolink:NamedThing collagen trimer A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009726 biolink:NamedThing proteosome-associated autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl CANDLE syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|NNS|proteasome disability syndrome|Nakajo Nishimura syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome|amyotrophy fat tissue anomaly|Nakajo-Nishimura syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|JMP syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|ALDD|amyotrophy-fat tissue anomaly syndrome|PRAAS|ALDD syndrome|proteasome-associated autoinflammatory syndrome|nodular erythema digital changes|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|Nakajo syndrome|secondary hypertrophic osteoperiostosis with pernio|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ICD9:709.8|GARD:0010811|UMLS:CN202195|Orphanet:2615|GARD:0003916|GARD:0010988|GARD:0003917|SCTID:702449004|UMLS:CN204109|OMIMPS:256040|Orphanet:325004|MESH:C538334|Orphanet:324999|ICD10:L98.8|Orphanet:324977|DOID:0050553 https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome|https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature owl:Class MONDO:0018782 biolink:NamedThing type 1 interferonopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:477647 owl:Class MONDO:0006372 biolink:NamedThing pituicytoma An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. tmpak2llvmy_mondo_relaxed.owl posterior pituitary astrocytoma|PTCY|pituicytoma (WHO grade I)|pituicytoma Orphanet:251623|ICDO:9432/1|NCIT:C94524|UMLS:C2986550|EFO:1000477|ONCOTREE:PTCY|SCTID:608817003|ICD10:C71.9|ICD9:237.0 owl:Class MONDO:0014208 biolink:NamedThing Charcot-Marie-Tooth disease type 2R Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. tmpak2llvmy_mondo_relaxed.owl TRIM2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|Charcot-Marie-Tooth neuropathy, type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|CMT2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R DOID:0110161|GARD:0012451|Orphanet:397968|UMLS:C3809655|ICD10:G60.0|OMIM:615490 https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r owl:Class MONDO:0008620 biolink:NamedThing upper limb mesomelic dysplasia This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. tmpak2llvmy_mondo_relaxed.owl ulnar hypoplasia|upper limb mesomelic dysplasia|ulna hypoplasia|Fryns-Hofkens-Fabry syndrome|Fryns Hofkens Fabry syndrome OMIM:191440|GARD:0002408|MESH:C538069|Orphanet:2497|ICD10:Q78.8 owl:Class UBERON:0004832 biolink:NamedThing anal region skeletal muscle A portion of skeletal muscle tissue that is part of an anal region [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle of anal region|skeletal muscle tissue of anal part of perineum|skeletal muscle of anal part of perineum|skeletal muscle tissue of anal region|skeletal muscle tissue of anal triangle|skeletal muscle of anal triangle|anal part of perineum skeletal muscle tissue|anal triangle skeletal muscle|anal part of perineum skeletal muscle|anal region skeletal muscle tissue|anal triangle skeletal muscle tissue owl:Class UBERON:0001134 biolink:NamedThing skeletal muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. tmpak2llvmy_mondo_relaxed.owl somatic muscle|skeletal muscle|skeletal muscle system owl:Class HGNC:18640 biolink:NamedThing LDLRAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13356 biolink:NamedThing MCOLN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009624 biolink:NamedThing microcephaly and chorioretinopathy 1 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. tmpak2llvmy_mondo_relaxed.owl microcephaly and chorioretinopathy 1|microcephaly and chorioretinopathy, autosomal recessive, type 1|microcephaly and chorioretinopathy type 1|MCCRP1|TUBGCP6 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|autosomal recessive chorioretinopathy-microcephaly syndrome|Pseudotoxoplasmosis syndrome|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM:251270|NCIT:C129306|Orphanet:2518|ICD10:Q87.8|DOID:0080105 owl:Class MONDO:0002759 biolink:NamedThing bladder verrucous carcinoma A verrucous carcinoma that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder verrucous carcinoma|urinary bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma DOID:3741|NCIT:C39832|UMLS:C1511208 owl:Class MONDO:0006006 biolink:NamedThing verrucous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. tmpak2llvmy_mondo_relaxed.owl verrucous carcinoma|warty carcinoma|verrucous epidermoid cell carcinoma|verrucous epidermoid carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous squamous carcinoma|verrucous squamous cell carcinoma EFO:0007535|MESH:D018289|DOID:3737|UMLS:C0206706|ICDO:8051/3|NCIT:C3781|SCTID:403904009|ICD9:199.1 owl:Class HGNC:24928 biolink:NamedThing VPS37A tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002047 biolink:NamedThing Fraction B precursor B cell A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative. tmpak2llvmy_mondo_relaxed.owl Fr. B|Fraction B Markers are commonly associated with mouse cells. These cells are also reportedly RAG1-positive and RAG2-positive. tmeehan 2010-04-28T11:56:21Z cell owl:Class CL:0002400 biolink:NamedThing Fraction B/C precursor B cell A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-10-05T10:11:38Z cell owl:Class GO:0010957 biolink:NamedThing negative regulation of vitamin D biosynthetic process Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008999 biolink:NamedThing Cohen syndrome Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. tmpak2llvmy_mondo_relaxed.owl pepper syndrome|COH1|Chs1|Cohen syndrome|Chs1, formerly|Coh|hypotonia, obesity, and prominent incisors|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ICD10:Q87.8|OMIM:216550|MESH:C536438|Orphanet:193|DOID:0111590|UMLS:C1854061|GARD:0006126|ICD9:759.89|SCTID:56604005|MedDRA:10049066 https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome owl:Class MONDO:0004613 biolink:NamedThing acute intestinal ischemia Ischemia of the intestine that is rapid in onset. tmpak2llvmy_mondo_relaxed.owl acute intestinal ischemia|acute intestinal vascular insufficiency NCIT:C34356|SCTID:91489000|UMLS:C0001363|DOID:8590|ICD9:557.0 owl:Class MONDO:0020675 biolink:NamedThing ischemic bowel disease Disease of the large or small intestine that is caused by inadequate blood supply. tmpak2llvmy_mondo_relaxed.owl ischemic bowel disease NCIT:C35212 owl:Class HGNC:19698 biolink:NamedThing KCNV2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012252 biolink:NamedThing Abnormal respiratory system morphology A structural anomaly of the respiratory system. tmpak2llvmy_mondo_relaxed.owl Fyler:4235|UMLS:C4022992 peter 2013-04-07T09:11:09Z human_phenotype owl:Class HP:0002086 biolink:NamedThing Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. tmpak2llvmy_mondo_relaxed.owl Respiratory abnormality UMLS:C4018871 human_phenotype owl:Class MONDO:0010459 biolink:NamedThing amyotrophic lateral sclerosis type 15 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in UBQLN2|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|ALS15|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis type 15|amyotrophic lateral sclerosis 15|UBQLN2 amyotrophic lateral sclerosis OMIM:300857|DOID:0060206|UMLS:C3275459 owl:Class MONDO:0005144 biolink:NamedThing familial amyotrophic lateral sclerosis An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary amyotrophic lateral sclerosis OMIMPS:105400|EFO:0001356 owl:Class MONDO:0002183 biolink:NamedThing enthesopathy A disorder involving the attachment of a tendon or ligament to a bone tmpak2llvmy_mondo_relaxed.owl disease or disorder of enthesis|disease of enthesis|enthesis disease|disorder of enthesis|enthesis disease or disorder UMLS:C0242490|SCTID:23680005|ICD10:M77.9|DOID:204|ICD9:726.9|ICD9:726.90 owl:Class MONDO:0002081 biolink:NamedThing musculoskeletal system disease A disease involving the musculoskeletal system. tmpak2llvmy_mondo_relaxed.owl musculoskeletal system disorder|musculoskeletal disease|musculoskeletal disorder|disease of musculoskeletal system|disease or disorder of musculoskeletal system|musculoskeletal system disease or disorder|musculoskeletal system disease|disorder of musculoskeletal system UMLS:C0026857|MESH:D009140|SCTID:928000|NCIT:C107377|DOID:17|ICD9:729.99 owl:Class CL:0000234 biolink:NamedThing phagocyte Any cell capable of ingesting particulate matter via phagocytosis. tmpak2llvmy_mondo_relaxed.owl FMA:83806|BTO:0001044 cell owl:Class CL:0000473 biolink:NamedThing defensive cell A cell whose primary function is to protect the organism. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0034104 biolink:NamedThing global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:544488 owl:Class MONDO:0017356 biolink:NamedThing inborn disorder of ornithine metabolism An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn error of ornithine metabolic process|inborn ornithine metabolic process disorder|disorder of ornithine metabolism|rare inborn error of ornithine metabolic process ICD10:E72.4|Orphanet:289869|UMLS:C0342690|SCTID:237928008 owl:Class MONDO:0006789 biolink:NamedThing hyperamylasemia Abnormally high level of amylase in the blood. tmpak2llvmy_mondo_relaxed.owl MESH:D034321|EFO:1000969|MedDRA:10062777 owl:Class MONDO:0005570 biolink:NamedThing hematologic disease A disease involving the hematopoietic system. tmpak2llvmy_mondo_relaxed.owl hematologic disorder|disease of the blood and blood-forming organs|hematopoietic system disease|hematological disorders and malignancies|blood dyscrasia|disease or disorder of hematopoietic system|rare hematologic disease|hematopoietic system disease or disorder|disorder of hematopoietic system|hematopoietic disease|disease of hematopoietic system|blood disorder|hematological disease|hematologic and lymphocytic disorder|hematological disorder|blood disease|hematological system disease UMLS:C0018939|MESH:D006402|DOID:74|ICD9:280-289.99|ICD9:289.8|EFO:0005803|GTR:AN1320635|UMLS:CN882913|ICD10:D75.9|UMLS:CN206939|Orphanet:97992|SCTID:414022008|NCIT:C26323|ICD9:289.9 placeholder for lymphoid disease https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0016794 biolink:NamedThing maternally-inherited mitochondrial myopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:254788|ICD10:G71.3 owl:Class MONDO:0016793 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA tmpak2llvmy_mondo_relaxed.owl OXPHOS disease due to a point mutation of mtDNA|mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA 2022-03-01 UMLS:CN202050|Orphanet:254776 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class CHEBI:36699 biolink:NamedThing corticosteroid hormone Any of a class of steroid hormones that are produced in the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl adrenal cortex hormones|corticosteroid hormones owl:Class CHEBI:26764 biolink:NamedThing steroid hormone Any steroid that acts as hormone. tmpak2llvmy_mondo_relaxed.owl Steroidhormon|hormones steroides|steroid hormones|hormonas esteroideas|Steroidhormone|hormona esteroide|hormone steroide owl:Class CL:0000816 biolink:NamedThing immature B cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. tmpak2llvmy_mondo_relaxed.owl immature B lymphocyte|immature B-lymphocyte|newly formed B cell|immature B-cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class MONDO:0007708 biolink:NamedThing Kasabach-Merritt syndrome Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia-hemangioma syndrome|Kasabach-Merritt syndrome|KMP|hemangioma-thrombocytopenia syndrome|Kasabach Merritt phenomenon|hemangiomatosis with thrombocytopenia|thrombopenia-hemangioma syndrome|hemangioma thrombocytopenia syndrome|hemangioma-hemorrhage syndrome|Kasabach Merritt syndrome Orphanet:2330|MESH:D059885|MedDRA:10058423|OMIM:141000|UMLS:C0221025|GARD:0000070|NCIT:C3821|SCTID:86635005|ICD10:D18.0|ICD9:287.39 owl:Class MONDO:0004172 biolink:NamedThing uterine corpus adenocarcinofibroma A adenocarcinofibroma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl body of uterus adenocarcinofibroma|adenocarcinofibroma of body of uterus DOID:7281 owl:Class HGNC:882 biolink:NamedThing ATR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013555 biolink:NamedThing Hermansky-Pudlak syndrome 3 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in HPS3|Hermansky-Pudlak syndrome 3|HPS3|Hermansky-Pudlak syndrome type 3|HPS3 Hermansky-Pudlak syndrome UMLS:C3888001|OMIM:614072|DOID:0060541 owl:Class GO:0016010 biolink:NamedThing dystrophin-associated glycoprotein complex A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. tmpak2llvmy_mondo_relaxed.owl DGC|dystrophin glycoprotein complex owl:Class GO:0090665 biolink:NamedThing glycoprotein complex A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011782 biolink:NamedThing angioid streaks Small breaks in the elastin-filled tissue of the retina. tmpak2llvmy_mondo_relaxed.owl angioid streaks UMLS:C0002982|EFO:1000805|MedDRA:10066191|DOID:13401|OMIM:607140|MESH:D000793 owl:Class UBERON:0010063 biolink:NamedThing tympanic cavity epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009536 biolink:NamedThing vascular element of left lung A vascular plexus that is part of a left lung. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000102 biolink:NamedThing lung vasculature The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs[GO]. tmpak2llvmy_mondo_relaxed.owl pulmonary vasculature|lung vascular network|vasculature of lung|vascular network of lung owl:Class CL:0002659 biolink:NamedThing glandular cell of stomach A glandular epithelial cell that is part of the stomach. tmpak2llvmy_mondo_relaxed.owl FMA:86554|CALOHA:TS-1284 tmeehan 2011-07-11T01:20:35Z cell owl:Class UBERON:0035074 biolink:NamedThing duct of apocrine sweat gland tmpak2llvmy_mondo_relaxed.owl ductal part of apocrine sweat gland owl:Class GO:0048640 biolink:NamedThing negative regulation of developmental growth Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth. tmpak2llvmy_mondo_relaxed.owl down regulation of developmental growth|inhibition of developmental growth|downregulation of developmental growth|down-regulation of developmental growth owl:Class GO:0048638 biolink:NamedThing regulation of developmental growth Any process that modulates the frequency, rate or extent of developmental growth. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002297 biolink:NamedThing epidermal appendage tumor A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. tmpak2llvmy_mondo_relaxed.owl Epidermal appendage tumor|adnexal tumor of skin|neoplasm of Epidermal appendage|neoplasm of skin with adnexal differentiation|neoplasm of cutaneous appendage|adnexal neoplasm of skin|Epidermal appendage neoplasm|skin appendage tumor|cutaneous appendage neoplasm|tumor of skin appendage|tumor of the skin appendage|adnexal neoplasm of the skin|cutaneous appendage tumor|tumor of cutaneous appendage|skin appendage tumour|neoplasm of the skin appendage|neoplasm of skin appendage|adnexal tumor of the skin|skin appendage neoplasm|cutaneous adnexal neoplasm|cutaneous appendage neoplasm (disease)|tumor of Epidermal appendage NCIT:C4463|UMLS:C0345988|SCTID:126489007|ICD9:239.2|DOID:2433 owl:Class MONDO:0002531 biolink:NamedThing skin neoplasm A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. tmpak2llvmy_mondo_relaxed.owl skin|tumor of skin|skin tumor|zone of skin neoplasm|neoplasm of the skin|skin neoplasms|tumor of zone of skin|tumor of the skin|neoplasm of skin|skin benign neoplasm|neoplasm of zone of skin|skin neoplasm|zone of skin tumor|zone of skin neoplasm (disease)|neoplasm of skin by site UMLS:C0037286|MESH:D012878|EFO:0004198|SCTID:126488004|ICD9:239.2|ONCOTREE:SKIN|NCIT:C3372|DOID:3165 owl:Class MONDO:0003073 biolink:NamedThing trilateral retinoblastoma Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). tmpak2llvmy_mondo_relaxed.owl DOID:4647|UMLS:C2608045|NCIT:C7019 owl:Class HGNC:8622 biolink:NamedThing PAX8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019469 biolink:NamedThing T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. tmpak2llvmy_mondo_relaxed.owl large granular lymphocytosis|leukemia, large granular LYMPHOCYTIC, malignant|large granular lymphocytic leukemia|T gamma lymphoproliferative disorder|proliferation of large granular lymphocytes|Tgamma large granular lymphocyte leukemia|LGL leukemia|T-gamma lymphoproliferative disorder|T-cell LGL leukemia|TLGL|T-cell large granular lymphocytic leukemia|large cell granular lymphoid leukemia|T-cell large granular lymphocyte leukemia|T-cell large gran. lymph. leuk.|LGLL|T-LGL leukemia|large granular lymphocyte leukemia|large cell granular lymphogenous leukemia|T-LGL ICDO:9831/1|GARD:0009812|Orphanet:86872|ICDO:9831/3|SCTID:277569004|NCIT:C4664|MedDRA:10065862|ONCOTREE:TLGL|ICDO:9768/1|UMLS:C1955861|UMLS:C1522378|ICD9:204.80|DOID:0050751 owl:Class MONDO:0005402 biolink:NamedThing lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. tmpak2llvmy_mondo_relaxed.owl leukemia, LYMPHOCYTIC, malignant|lymphoid leukemia (disease)|lymphoid leukemia|lymphogenous leukemia|lymphocytic leukemia|subacute lymphoid leukemia lymphoid leukemia (disease) DOID:10747|ICD9:204|ICD9:204.2|UMLS:C0152271|ICD9:204.20|NCIT:C7539|ICDO:9820/3|SCTID:188726003|MESH:D007945|HP:0005526|ICDO:981-983|UMLS:C0023448|EFO:0004289 owl:Class UBERON:0000200 biolink:NamedThing gyrus A ridge on the cerebral cortex. It is generally surrounded by one or more sulci . tmpak2llvmy_mondo_relaxed.owl folium|cerebral gyrus|gyrus of cerebral hemisphere|gyri of cerebrum|neuraxis gyrus|gyri|gyrus of neuraxis|folium of brain|folia|gyrus of cerebrum owl:Class UBERON:0034768 biolink:NamedThing morphological feature A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010063 biolink:NamedThing corneal-cerebellar syndrome A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl corneal-cerebellar syndrome|corneal dystrophy with spinocerebellar Degeneration|spinocerebellar degeneration-corneal dystrophy syndrome|corneal cerebellar syndrome|spinocerebellar degeneration and corneal dystrophy|spinocerebellar degeneration corneal dystrophy|Der Kaloustian-Jarudi-Khoury syndrome|Der Kaloustian Jarudi Khoury syndrome ICD10:G11.1|GARD:0001525|Orphanet:3177|UMLS:C1849087|SCTID:720750004|OMIM:271310|MESH:C535472 owl:Class MONDO:0023137 biolink:NamedThing feigenbaum Bergeron syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002280 https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome owl:Class MONDO:0004733 biolink:NamedThing pyriform sinus cancer A primary or metastatic malignant neoplasm that affects the pyriform sinus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the pyriform fossa|malignant pyriform fossa neoplasm|malignant tumor of the pyriform fossa|malignant neoplasm of pyriform fossa|malignant pyriform fossa tumor|malignant neoplasm of the pyriform sinus|malignant tumor of the pyriform sinus|malignant pyriform sinus tumor|malignant tumor of pyriform fossa|malignant tumor of pyriform sinus|malignant pyriform sinus neoplasm|malignant neoplasm of pyriform sinus NCIT:C3531|SCTID:363401000|DOID:9235|ICD10:C12|UMLS:C0153400|ICD9:148.1 owl:Class MONDO:0005806 biolink:NamedThing hypopharynx cancer A primary or metastatic malignant neoplasm that affects the hypopharynx. tmpak2llvmy_mondo_relaxed.owl malignant tumor of hypopharynx|malignant tumour of hypopharynx|malignant neoplasm of other specified sites of hypopharynx|hypopharynx pharynx cancer|malignant neoplasm of hypopharynx|malignant tumor of the hypopharynx|malignant hypopharyngeal tumor|malignant hypopharyngeal neoplasm|malignant neoplasm of the hypopharynx|malignant neoplasm of ill-defined sites within the lip and oral cavity|malignant neoplasm of posterior wall of hypopharynx|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant neoplasm of other specified hypopharyngeal site|hypural pharynx cancer|pharynx cancer of hypopharynx|hypopharyngeal cancer ICD10:C13.9|ICD9:148.9|ICD10:C13.2|SCTID:303012000|NCIT:C7190|EFO:0007321|DOID:8533|ICD10:C13|ICD9:148|MESH:D007012|GARD:0009334|ICD9:148.3 owl:Class MONDO:0020283 biolink:NamedThing uveitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. tmpak2llvmy_mondo_relaxed.owl inflammation of uvea|uveitis (disease)|uvea inflammation|uveitis uveitis (disease) HP:0000554|MedDRA:10046851|SCTID:128473001|UMLS:C0042164|Orphanet:98715|ICD10:H20.9|DOID:13141|EFO:1001231|NCIT:C26909|MESH:D014605 owl:Class MONDO:0001505 biolink:NamedThing alcoholic hepatitis Acute hepatitis resulting from ingestion of alcohol. tmpak2llvmy_mondo_relaxed.owl acute alcoholic liver disease|acute alcoholic hepatitis|alcoholic hepatitis|acute alcoholic Hepatitis|alcoholic Hepatitis ICD9:571.1|SCTID:235875008|NCIT:C34684|UMLS:C0001306|DOID:12351|MESH:D006519|CSP:1754-6978|ICD10:K70.1 owl:Class MONDO:0005461 biolink:NamedThing endometrium adenocarcinoma An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl endometrioid adenoma or carcinoma|adenocarcinoma, endometrial, malignant|endometrial endometrioid adenocarcinoma|adenocarcinoma of the endometrium|adenocarcinoma of endometrium|endometrioid adenomas and carcinomas (morphologic abnormality)|endometrioid adenomas and carcinomas|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|endometrioid carcinoma of endometrium|endometrium adenocarcinoma|adenocarcinoma of uterus|endometrial endometrioid adenocarcinoma with squamous differentiation|endometrial adenoacanthoma|endometrial adenocarcinoma UMLS:C0279763|UMLS:C1153706|EFO:0005232|DOID:2870|NCIT:C7359 owl:Class GO:1904172 biolink:NamedThing positive regulation of bleb assembly Any process that activates or increases the frequency, rate or extent of bleb assembly. tmpak2llvmy_mondo_relaxed.owl upregulation of bleb assembly|activation of cell blebbing|up regulation of bleb assembly|positive regulation of cell blebbing|up-regulation of cell blebbing|upregulation of cell blebbing|up-regulation of bleb assembly|activation of bleb assembly|up regulation of cell blebbing owl:Class GO:1904170 biolink:NamedThing regulation of bleb assembly Any process that modulates the frequency, rate or extent of bleb assembly. tmpak2llvmy_mondo_relaxed.owl regulation of cell blebbing owl:Class MONDO:0010564 biolink:NamedThing red-green color blindness Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. tmpak2llvmy_mondo_relaxed.owl CBD|Green colorblindness|Deutan colorblindness|Deutan defect|colorblindness, partial, DEUTAN series|deuteranopia|reduced red-green discrimination|Deuteranomaly EFO:0005581|UMLS:C0155016|SCTID:77479002|ICD10:H53.53|DOID:13909|OMIM:303800|ICD9:368.52 owl:Class MONDO:0006423 biolink:NamedThing soft tissue chondroma A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. tmpak2llvmy_mondo_relaxed.owl extraskeletal chondroma|soft tissue chondroma|extraskeletal osteochondroma|chondroma of soft parts EFO:1000540|NCIT:C9482|DOID:3814|SCTID:404078000|UMLS:C1275277 MONDO:0002780 owl:Class MONDO:0044335 biolink:NamedThing benign soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of soft tissue|benign soft tissue tumor|soft tissue neoplasm, benign|benign tumor of the soft tissue|benign soft tissue neoplasm|benign tumor of soft tissue|benign neoplasm of the soft tissue UMLS:C0334450|SCTID:92069005|ICDO:8800/0|NCIT:C4242 owl:Class MONDO:0004291 biolink:NamedThing subglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. tmpak2llvmy_mondo_relaxed.owl subglottic epidermoid carcinoma|subglottic squamous cell carcinoma|subglottis epidermoid carcinoma|squamous cell carcinoma of the subglottis|squamous cell carcinoma of subglottis|epidermoid carcinoma of the subglottis|subglottis squamous cell carcinoma|epidermoid carcinoma of subglottis NCIT:C8187|DOID:7585|UMLS:C0280326 owl:Class MONDO:0004358 biolink:NamedThing subglottis carcinoma A carcinoma of the larynx that arises from the subglottic area. tmpak2llvmy_mondo_relaxed.owl subglottis carcinoma|subglottic throat cancer|carcinoma of the subglottis|subglottic cancer|cancer of subglottis|carcinoma of subglottis|subglottic carcinoma|cancer of the subglottis UMLS:C1299239|SCTID:372104008|NCIT:C5972|DOID:7764 owl:Class HGNC:12440 biolink:NamedThing TYK2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003105 biolink:NamedThing negative regulation of glomerular filtration Any process that stops, prevents, or reduces the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046580 biolink:NamedThing negative regulation of Ras protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. tmpak2llvmy_mondo_relaxed.owl down-regulation of Ras protein signal transduction|downregulation of Ras protein signal transduction|down regulation of Ras protein signal transduction|inhibition of Ras protein signal transduction owl:Class HGNC:1421 biolink:NamedThing SLC25A20 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014793 biolink:NamedThing musculature of pectoral complex Any collection of muscles that is part of a pectoral complex. The pectoral complex comprises the pectoral girdle and the associated limb or fin. tmpak2llvmy_mondo_relaxed.owl muscles of upper limb|upper limb musculature|set of muscles of upper limb|musculature of upper limb|musculi membri superioris owl:Class UBERON:0001015 biolink:NamedThing musculature A subdivision of the muscular system corresponding to a subdisivision of an organism. tmpak2llvmy_mondo_relaxed.owl muscle group|musculi|muscles|set of skeletal muscles|muscles set|musculature|set of muscles|musculature system|muscle system owl:Class CL:0002166 biolink:NamedThing epithelial cell of Malassez An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth. tmpak2llvmy_mondo_relaxed.owl epithelial cell rests of Malassez|epithelial debris of Malassez FMA:62987 tmeehan 2010-08-26T08:51:27Z cell owl:Class MONDO:0015042 biolink:NamedThing primary plasmacytoma of the bone tmpak2llvmy_mondo_relaxed.owl UMLS:CN197327|ICD10:C90.3|Orphanet:100021 owl:Class MONDO:0005615 biolink:NamedThing plasmacytoma Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. tmpak2llvmy_mondo_relaxed.owl anaplastic solitary extramedullary plasmacytoma of the cecum (type)|anaplastic plasmacytoma|anaplastic skeletal plasmacytoma (type)|myeloma, solitary|solitary plasmacytoma|extramedullary anaplastic plasmacytoma (type)|solitary myeloma|plasmacytoma|myeloma - solitary SCTID:415112005|ICD10:C90.3|GARD:0007404|MedDRA:10035484|UMLS:C0032131|DOID:3721|ICD10:C90.30|Orphanet:86855|EFO:0006738|NCIT:C9349|ICD10:C90.2|ICD9:238.6|ICDO:9731/3|MESH:D010954 alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. owl:Class MONDO:0042967 biolink:NamedThing rheumatic disease of mitral valve A rheumatologic disorder that involves the mitral valve. tmpak2llvmy_mondo_relaxed.owl rheumatic mitral valve changes|rheumatic disease of mitral valve|mitral valve rheumatologic disorder|rheumatic mitral valve disease|rheumatologic disorder of mitral valve SCTID:83898004|UMLS:C0264765 owl:Class MONDO:0019434 biolink:NamedThing systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. tmpak2llvmy_mondo_relaxed.owl Still disease|sJIA|systemic juvenile idiopathic arthritis|systemic onset juvenile rheumatoid arthritis|systemic onset juvenile idiopathic arthritis|systemic polyarthritis|Still's disease (formerly)|systemic-onset JIA|SoJIA NCIT:C119031|MESH:C565798|ICD10:M08.2|SCTID:201796004|Orphanet:85414|EFO:1001999|GARD:0010966 https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis owl:Class MONDO:0019751 biolink:NamedThing autoinflammatory syndrome A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. tmpak2llvmy_mondo_relaxed.owl NCIT:C119050|Orphanet:93665|MedDRA:10072220|UMLS:C3267073|UMLS:C3890737 Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom owl:Class MONDO:0012702 biolink:NamedThing celiac disease, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl CELIAC6|gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5|celiac disease, susceptibility to, 6 OMIM:611598 owl:Class MONDO:0005130 biolink:NamedThing celiac disease An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. tmpak2llvmy_mondo_relaxed.owl non tropical sprue|celiac sprue|coeliac disease|gluten-induced enteropathy|idiopathic steatorrhea SCTID:396331005|DOID:10608|NCIT:C26714|OMIMPS:212750|UMLS:C0007570|ICD10:K90.0|GARD:0011998|EFO:0001060|MESH:D002446|ICD9:579.0 owl:Class UBERON:0003233 biolink:NamedThing epithelium of shoulder An epithelium that is part of a shoulder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl shoulder epithelium|shoulder epithelial tissue|epithelial tissue of shoulder owl:Class CHEBI:33832 biolink:NamedThing organic cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. tmpak2llvmy_mondo_relaxed.owl organic cyclic compounds owl:Class CHEBI:72695 biolink:NamedThing organic molecule Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. tmpak2llvmy_mondo_relaxed.owl organic molecules|organic compounds|organic compound owl:Class MONDO:0001192 biolink:NamedThing esophageal melanoma A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) tmpak2llvmy_mondo_relaxed.owl esophagus melanoma|melanoma of the esophagus|esophageal melanoma|melanoma (disease) of esophagus|mucosal melanoma of the esophagus|esophagus melanoma (disease)|melanoma of esophagus DOID:1108|UMLS:C1333460|ONCOTREE:ESMM|NCIT:C5707 owl:Class MONDO:0013780 biolink:NamedThing retinitis pigmentosa 63 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23. tmpak2llvmy_mondo_relaxed.owl RP63|retinitis pigmentosa 63|retinitis pigmentosa type 63 DOID:0110385|UMLS:C3281002|ICD10:H35.5|OMIM:614494 owl:Class MONDO:0019318 biolink:NamedThing inflammatory linear verrucous epidermal nevus tmpak2llvmy_mondo_relaxed.owl inflammatory linear verrucous epidermal naevus|ILVEN|linear verrucose epidermal nevus SCTID:399995006|GARD:0005484|Orphanet:79466|UMLS:C0473574|ICD10:Q82.5 owl:Class MONDO:0016831 biolink:NamedThing linear verrucous nevus syndrome tmpak2llvmy_mondo_relaxed.owl linear hamartoma syndrome Orphanet:2611|GARD:0003259|UMLS:CN202159|ICD10:Q82.5 owl:Class UBERON:0015808 biolink:NamedThing eye epithelium A epithelium that is part of a camera-type eye. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043364 biolink:NamedThing eosinophil peroxidase deficiency A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. tmpak2llvmy_mondo_relaxed.owl eosinophil peroxidase deficiency, partial|presentey anomaly|eosinophil peroxidase deficiency, Partial|eosinophil peroxidase deficiency|EPXD|peroxidase and phospholipid deficiency in eosinophils|Presentey anomaly OMIM:261500|MESH:C564893|SCTID:711160007|UMLS:C1850000|GARD:0012361 owl:Class CHEBI:30768 biolink:NamedThing propionic acid A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. tmpak2llvmy_mondo_relaxed.owl PROPANOIC ACID|ethylformic acid|propoic acid|carboxyethane|PA|Propionsaeure|propionic acid|pseudoacetic acid|propioic acid|CH3-CH2-COOH|metacetonic acid|Propionic acid|acide propanoique|Propanoic acid|acide propionique|propanoic acid|methylacetic acid|ethanecarboxylic acid owl:Class CHEBI:26607 biolink:NamedThing saturated fatty acid Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. tmpak2llvmy_mondo_relaxed.owl saturated fatty acid|SFA|SFAs|saturated fatty acids owl:Class GO:1905879 biolink:NamedThing regulation of oogenesis Any process that modulates the frequency, rate or extent of oogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of ovum development owl:Class GO:0060284 biolink:NamedThing regulation of cell development Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025129 biolink:NamedThing swine erysipelas An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. tmpak2llvmy_mondo_relaxed.owl erysipelas, swine UMLS:C0039007|MESH:D013554 owl:Class MONDO:0043257 biolink:NamedThing pemphigus and fogo selvagem tmpak2llvmy_mondo_relaxed.owl Brazilian pemphigus foliaceus|wild fire|fogo selvagem|Brazilian pemphigus|South American pemphigus|amendola's syndrome|wildfire pemphigus|FS|endemic pemphigus foliaceus SCTID:46459009|GARD:0007353|UMLS:C0263314|HGNC:3048|MESH:C535551 owl:Class MONDO:0006594 biolink:NamedThing pemphigus Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus tmpak2llvmy_mondo_relaxed.owl ICD10:L10.9|DOID:9182|ICD9:694.4|ICD10:L10|UMLS:C0030807|GARD:0007352|Wikipedia:Pemphigus|MESH:D010392|NCIT:C34909|SCTID:65172003|EFO:1000749 https://rarediseases.info.nih.gov/diseases/7352/pemphigus owl:Class MONDO:0002950 biolink:NamedThing skin clear cell basal cell carcinoma A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. tmpak2llvmy_mondo_relaxed.owl skin clear cell basal cell carcinoma|clear cell basal cell carcinoma UMLS:C1516599|DOID:4293|NCIT:C27536 owl:Class MONDO:0005341 biolink:NamedThing skin basal cell carcinoma The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. tmpak2llvmy_mondo_relaxed.owl epithelioma basal cell|basal cell carcinoma of skin|basal cell carcinoma|basal cell cancer|skin basal cell cancer|skin basal cell carcinoma|basal cell skin carcinoma|BCC|basal cell epithelioma|basal cell tumor|basal cell carcinoma of the skin NCIT:C2921|KEGG:05217|SCTID:254701007|DOID:2513|UMLS:C0007117|HP:0002671|EFO:0004193|ICDO:8090/3|UMLS:C0751676|UMLS:C0206710|ONCOTREE:BCC|CSP:2000-2719 owl:Class MONDO:0027751 biolink:NamedThing serpinopathy with loss of serpin function tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:250811 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: serpinopathy MONDO_0027749 owl:Class MONDO:0027749 biolink:NamedThing serpinopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:250805 owl:Class MONDO:0003564 biolink:NamedThing localized pulmonary fibrosis Replacement of the lung tissue by connective tissue in a specific area of the lung. tmpak2llvmy_mondo_relaxed.owl UMLS:C0340127|DOID:5642|SCTID:233726000|NCIT:C27103 owl:Class MONDO:0002771 biolink:NamedThing pulmonary fibrosis Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). tmpak2llvmy_mondo_relaxed.owl pulmonary interstitial fibrosis|fibrosis of lung UMLS:C0034069|DOID:3770|MESH:D011658|SCTID:51615001|NCIT:C26869 owl:Class HP:0001909 biolink:NamedThing Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. tmpak2llvmy_mondo_relaxed.owl Blood cancer|Leukaemia MSH:D007938|SNOMEDCT_US:93143009|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D019337|SNOMEDCT_US:269475001|UMLS:C0376545|UMLS:C0023418 HP:0006726|HP:0005519 human_phenotype owl:Class MONDO:0010228 biolink:NamedThing deafness, X-linked 3 tmpak2llvmy_mondo_relaxed.owl deafness, X-linked 3|DFNX3|deafness X-linked, DFN3|deafness, X-linked 4, congenital sensorineural MESH:C564727|GARD:0001707|OMIM:300030|DOID:0111736 owl:Class MONDO:0019586 biolink:NamedThing X-linked nonsyndromic deafness X-linked form of nonsyndromic deafness. tmpak2llvmy_mondo_relaxed.owl X-linked isolated neurosensory hearing loss type DFN|X-linked isolated neurosensory deafness type DFN|nonsyndromic deafness, X-linked|nonsyndromic genetic deafness, X-linked|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked non-syndromic sensorineural hearing loss type DFN|X-linked deafness|X-linked nonsyndromic genetic deafness|X-linked non-syndromic sensorineural deafness type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked isolated sensorineural deafness type DFN UMLS:CN206422|DOID:0050566|ICD10:H90.3|Orphanet:90625 ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 owl:Class GO:0051937 biolink:NamedThing catecholamine transport The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1152 biolink:NamedThing BVES tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009934 biolink:NamedThing alveolar capillary dysplasia with misalignment of pulmonary veins A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. tmpak2llvmy_mondo_relaxed.owl alveolar capillary dysplasia with pulmonary venous misalignment|alveolar capillary dysplasia with misalignment of pulmonary vessels|congenital alveolar capillary dysplasia|fetal circulation|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|familial persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins|pulmonary hypertension, familial persistent of the newborn|ACDMPV|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|persistent fetal circulation|congenital alveolar capillary dysplasia with misalignment of pulmonary veins MESH:D010547|MedDRA:10054726|ICD9:747.49|MESH:C536590|UMLS:C0031190|NCIT:C98809|EFO:1001103|ICD9:747.83|GARD:0008644|ICD10:P29.3|OMIM:265380|DOID:13042|SCTID:447275002|Orphanet:210122 Editor note: MESH and NCIT split this, see NCIT:C98809 https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia owl:Class MONDO:0008457 biolink:NamedThing spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. tmpak2llvmy_mondo_relaxed.owl SCA6|spinocerebellar ataxia type 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia 6 ICD10:G11.2|GARD:0010351|OMIM:183086|Orphanet:98758|UMLS:C0752124|DOID:0050956|NCIT:C142838|SCTID:715752006 https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 owl:Class MONDO:0019793 biolink:NamedThing autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. tmpak2llvmy_mondo_relaxed.owl ADCA3|autosomal dominant cerebellar ataxia type III|ADCAIII|autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome UMLS:CN206746|Orphanet:94148|ICD10:G11.8 owl:Class MONDO:0002843 biolink:NamedThing fungal gastritis Gastritis resulting from fungi. tmpak2llvmy_mondo_relaxed.owl Fungi caused gastritis (disease)|fungal gastritis|Fungi gastritis (disease) DOID:4034|SCTID:723097009|UMLS:C0948638|NCIT:C27342 owl:Class MONDO:0017564 biolink:NamedThing macrodactyly of fingers, unilateral tmpak2llvmy_mondo_relaxed.owl macrodactyly of hand, unilateral Orphanet:295239|ICD10:Q74.0 owl:Class MONDO:0017474 biolink:NamedThing macrodactyly of fingers tmpak2llvmy_mondo_relaxed.owl megalodactylism of the hand|macrodactyly of hand|macrodactyly of the hand|Megalodactyly of the hand Orphanet:295044|HP:0100746|SCTID:297195000|ICD10:Q74.0|GARD:0008529|MESH:C537720 owl:Class UBERON:0004139 biolink:NamedThing cardiogenic plate The first recognizable structure derived from the heart field tmpak2llvmy_mondo_relaxed.owl cardiac crescent|myocardial plate|cardiogenic crescent|heart rudiment owl:Class MONDO:0001572 biolink:NamedThing leiomyoma A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyomatous neoplasm (morphologic abnormality)|fibroid|leiomyoma|leiomyomatous neoplasm|fibroid tumor|fibroid neoplasm|leiomyoma, benign|leiomyomatous tumor NCIT:C3157|MESH:D007889|SCTID:146801000119103|ICD9:215.9|UMLS:C0023267|ICDO:8890/0|DOID:127 owl:Class HGNC:868 biolink:NamedThing ATP6AP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008608 biolink:NamedThing Down syndrome Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. tmpak2llvmy_mondo_relaxed.owl leukemia, megakaryoblastic, of Down syndrome|trisomy 21 syndrome|complete trisomy 21 syndrome|Down syndrome chromosome region|trisomy 21|Down syndrome|Down's syndrome - trisomy 21|trisomy 21 (Down syndrome)|Down's syndrome|G trisomy|Down syndrome critical region|Downs syndrome|transient myeloproliferative disorder of Down syndrome ICD10:Q90.9|ICD9:758.0|NIFSTD:nlx_dys_20090502|SCTID:41040004|ICD10:Q90.0|MedDRA:10044688|EFO:0001064|MESH:D004314|ICD10:Q90.2|DOID:14250|GARD:0010247|ICD10:Q90|NCIT:C2993|OMIM:190685|UMLS:C0013080|ICD10:Q90.1|Orphanet:870 May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future owl:Class MONDO:0014816 biolink:NamedThing split-foot malformation-mesoaxial polydactyly syndrome tmpak2llvmy_mondo_relaxed.owl split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly|SFMMP Orphanet:488232|OMIM:616890|UMLS:C4225167 owl:Class MONDO:0014949 biolink:NamedThing developmental and epileptic encephalopathy, 47 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene. tmpak2llvmy_mondo_relaxed.owl EIEE47|epileptic encephalopathy, early infantile, type 47|FGF12 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 47|DEE47|epileptic encephalopathy, early infantile, 47; EIEE47|early infantile epileptic encephalopathy caused by mutation in FGF12 UMLS:C4310685|OMIM:617166|DOID:0080425 owl:Class UBERON:0003723 biolink:NamedThing vestibular nerve The vestibular nerve is one of the two branches of the Vestibulocochlear nerve (the cochlear nerve being the other). It goes to the semicircular canals via the vestibular ganglion. It receives positional information. Axons of the vestibular nerve synapse in the vestibular nucleus on the lateral floor and wall of the fourth ventricle in the pons and medulla. It arises from bipolar cells in the vestibular ganglion, ganglion of Scarpa, which is situated in the upper part of the outer end of the internal auditory meatus. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vestibular root of acoustic nerve|nervus vestibularis|scarpas ganglion|vestibulocochlear nerve vestibular root|scarpa ganglion|vestibulocochlear VIII nerve vestibular component|vestibular root of eighth cranial nerve|scarpa's ganglion owl:Class MONDO:0014523 biolink:NamedThing juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome tmpak2llvmy_mondo_relaxed.owl ACPHD|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome|ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus UMLS:C4015436|Orphanet:445062|OMIM:616192 owl:Class MONDO:0021258 biolink:NamedThing choroid neoplasm A neoplasm (disease) that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl optic choroid neoplasm|neoplasm of choroid|choroidal neoplasm|optic choroid tumor|tumor of choroid|choroid tumor|choroidal tumor|neoplasm of optic choroid|tumor of optic choroid|optic choroid neoplasm (disease)|neoplasm of the choroid|tumor of the choroid NCIT:C2949 owl:Class MONDO:0001898 biolink:NamedThing optic choroid disease A disease involving the optic choroid. tmpak2llvmy_mondo_relaxed.owl choroid disease|optic choroid disease|disorder of optic choroid|choroid disorder|disease or disorder of optic choroid|optic choroid disease or disorder|disease of optic choroid MESH:D015862|ICD9:363.9|NCIT:C34468|DOID:1417|ICD10:H31.9|ICD9:363.8|SCTID:128468007|UMLS:C0008521 owl:Class MONDO:0009146 biolink:NamedThing ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl congenital ectodermal dysplasia with hearing loss|ectodermal dysplasia-sensorineural hearing loss syndrome|ectodermal dysplasia and neurosensory deafness|hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|Mikaelian syndrome MESH:C535757|UMLS:C1857068|MESH:C565606|Orphanet:1883|OMIM:224800|GARD:0009723 https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss owl:Class MONDO:0012683 biolink:NamedThing pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. tmpak2llvmy_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|PCH6|fatal infantile encephalopathy with mitochondrial respiratory chain defects|pontocerebellar hypoplasia type 6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 6|encephalopathy fatal infantile with mitochondrial respiratory chain defects UMLS:C1969084|SCTID:718606005|GARD:0010710|OMIM:611523|ICD10:Q04.3|MESH:C548074|Orphanet:166073|DOID:0060275 https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 owl:Class HP:0001638 biolink:NamedThing Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. tmpak2llvmy_mondo_relaxed.owl Disease of the heart muscle Fyler:1840|SNOMEDCT_US:85898001|UMLS:C0878544|MSH:D009202|SNOMEDCT_US:57809008 human_phenotype owl:Class HP:0001637 biolink:NamedThing Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. tmpak2llvmy_mondo_relaxed.owl Abnormality of the myocardium UMLS:C4025758 human_phenotype owl:Class CHEBI:17087 biolink:NamedThing ketone A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). tmpak2llvmy_mondo_relaxed.owl ketones|R-CO-R'|Keton|Ketone|cetone|a ketone owl:Class CHEBI:36586 biolink:NamedThing carbonyl compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. tmpak2llvmy_mondo_relaxed.owl carbonyl compounds owl:Class MONDO:0007661 biolink:NamedThing Tourette syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. tmpak2llvmy_mondo_relaxed.owl Guinon's disease|Gilles De 50A Tourette syndrome|psychogenic tics|Tourette disorder|GTS|chronic motor tics|Tourette syndrome|Gilles DE LA TOURETTE syndrome|Tourette's syndrome|motor-verbal tic disorder EFO:0004895|SCTID:5158005|GARD:0007783|ICD10:F95.2|NCIT:C35078|OMIM:137580|MESH:D005879|ICD9:307.23|DOID:11119 owl:Class MONDO:0019349 biolink:NamedThing Sotos syndrome Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. tmpak2llvmy_mondo_relaxed.owl Sotos syndrome|Sotos' syndrome|cerebral gigantism|cerebral gigantism syndrome|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development DOID:14748|Orphanet:821|GARD:0010091|MESH:D058495|OMIMPS:117550|ICD10:Q87.3|NCIT:C75019|UMLS:CN239475|UMLS:C0175695|MedDRA:10064387 owl:Class MONDO:0015945 biolink:NamedThing polymalformative genetic syndrome with increased risk of developing cancer Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. tmpak2llvmy_mondo_relaxed.owl PGSIRC 2022-03-01 UMLS:CN200541|Orphanet:183422 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hereditary neoplastic syndrome' MONDO_0015356 owl:Class MONDO:0010708 biolink:NamedThing Pallister-W syndrome W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. tmpak2llvmy_mondo_relaxed.owl median cleft upper lip, mental retardation and pugilistic facies|Pallister-W syndrome|W syndrome|median cleft upper lip, intellectual disability and pugilistic facies|Pallister W syndrome MESH:C538106|SCTID:719020006|OMIM:311450|GARD:0000358|ICD10:Q87.8|UMLS:C0796110|Orphanet:2804 owl:Class MONDO:0025087 biolink:NamedThing classical swine fever An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality. tmpak2llvmy_mondo_relaxed.owl Hog cholera|cholera, Hog|swine fever, classical|swine fever UMLS:C0019841|MESH:D006691 owl:Class CL:1000414 biolink:NamedThing endothelial cell of venule An endothelial cell that is part of the venule. tmpak2llvmy_mondo_relaxed.owl FMA:67762 cell owl:Class CL:0002139 biolink:NamedThing endothelial cell of vascular tree An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl cubodial endothelial cell of vascular tree|vascular endothelial cell CALOHA:TS-1106|BTO:0001854|FMA:67755 These cells are reportedly CD31-positive, CD34-positive, CD144-positive, TAL1-positive. tmeehan 2010-08-24T02:06:40Z cell owl:Class MONDO:0008703 biolink:NamedThing acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. tmpak2llvmy_mondo_relaxed.owl type II achondrogenesis|chondrodysplasia, GREBE type|GREBE chondrodysplasia|AMDG|acromesomelic dysplasia, Grebe type|Grebe chondrodysplasia|achondrogenesis type II (formerly)|chondrodysplasia, Grebe type|achondrogenesis, type II, formerly|Langer-Saldino achondrogenesis|Grebe dysplasia|hypochondrogenesis|achondrogenesis, Brazilian|Brazilian achondrogenesis|achondrogenesis, type II|Grebe syndrome GARD:0001300|NCIT:C3816|UMLS:C0265260|Orphanet:2098|OMIM:200700|DOID:0080052|ICD10:Q78.8 owl:Class MONDO:0019696 biolink:NamedThing acromesomelic dysplasia Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type tmpak2llvmy_mondo_relaxed.owl acromesomelic dwarfism GARD:0000006|DOID:0080049|Orphanet:93437|MESH:C535658 owl:Class MONDO:0006879 biolink:NamedThing optic papillitis Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) tmpak2llvmy_mondo_relaxed.owl retinal edema|optic nerve papillitis|decreased intraocular pressure-associated papilledema|edema, optic disk|Edemas, optic disk|optic disk edema|increased intracranial pressure-associated papilledema|papilledema associated with decreased intraocular pressure|optic papilla edema|disks, Choked|papillitis, optic nerve|optic discitis|papillitis, optic|papilledema associated with increased intracranial pressure|Choked disk|retinal Edemas|optic papillitis|Edemas, retinal|increased intracranial pressure associated papilledema|decreased intraocular pressure associated papilledema|Choked disks|disk, Choked|papillitis|edema, retinal|edema, optic papilla|inflammation of optic disc|edema of the optic disc|optic disc inflammation ICD9:377.01|DOID:10175|ICD10:H46.0|ICD10:H35.81|ICD10:H47.10|ICD9:377.31|ICD9:362.83|ICD10:H47.1|ICD9:377.0|ICD10:H47.11|EFO:1001074|SCTID:73221001|MedDRA:10030948|MESH:D010211|ICD9:377.00 owl:Class MONDO:0005885 biolink:NamedThing optic neuritis Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. tmpak2llvmy_mondo_relaxed.owl NCIT:C84950|ICD10:H46|ICD9:377.3|SCTID:66760008|ICD10:H46.9|DOID:1210|ICD9:377.30|EFO:0007405|ICD9:377.39|GARD:0007320|MESH:D009902 https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis owl:Class UBERON:0016855 biolink:NamedThing ventral part of optic cup The ventral region of the optic cup that gives rise to the ventral part of the retina. tmpak2llvmy_mondo_relaxed.owl ventral optic cup|ventral region of optic cup owl:Class CL:0002591 biolink:NamedThing smooth muscle cell of the pulmonary artery A smooth muscle of the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl BTO:0003336 tmeehan 2011-03-06T05:01:28Z cell owl:Class MONDO:0019845 biolink:NamedThing iatrogenic or traumatic pituitary deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:95619|ICD10:E23.1 owl:Class GO:0016477 biolink:NamedThing cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000542 biolink:NamedThing negative regulation of gastrulation Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010470 biolink:NamedThing regulation of gastrulation Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030896 biolink:NamedThing chromosome 13q33-q34 deletion syndrome tmpak2llvmy_mondo_relaxed.owl OMIM:619148 owl:Class MONDO:0016911 biolink:NamedThing partial deletion of the long arm of chromosome 13 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13. tmpak2llvmy_mondo_relaxed.owl partial deletion of the long arm of chromosome type 13|deletion 13q|monosomy 13q|13q deletion|del(13q)|partial monosomy of chromosome 13q|partial deletion of chromosome 13q|chromosome 13q deletion|13q monosomy|partial monosomy of the long arm of chromosome 13|loss of chromosome 13q MESH:C535449|Orphanet:262101|GARD:0001738|ICD10:Q93.5|NCIT:C36497 owl:Class ECTO:8000035 biolink:NamedThing exposure to anthropogenic modulatory intervention process A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process. tmpak2llvmy_mondo_relaxed.owl anthropogenic modulatory intervention process exposure owl:Class MONDO:0006484 biolink:NamedThing usual ductal breast hyperplasia A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells. tmpak2llvmy_mondo_relaxed.owl UDH|ordinary intraductal breast hyperplasia|ductal breast hyperplasia of usual type NCIT:C27941|EFO:1000612|SCTID:472905007|UMLS:C3532429|ICD9:611.89 owl:Class MONDO:0004996 biolink:NamedThing childhood acute myeloid leukemia Acute myeloid leukemia occurring in childhood. tmpak2llvmy_mondo_relaxed.owl childhood acute myelogenous leukemia|childhood acute myeloid leukaemia|childhood AML|pediatric acute myeloid leukemia|childhood acute granulocytic leukemia|pediatric acute myelogenous leukemia|pediatric acute myeloblastic leukemia|pediatric AML|paediatric acute myeloid leukaemia|acute myeloid leukemia of childhood|acute myeloid leukemia (AML)|childhood acute myelocytic leukemia|childhood acute myeloid leukemia|childhood acute myeloblastic leukemia|pediatric acute myelocytic leukemia ICDO:M9861/3|NCIT:C9160|UMLS:C0220621|DOID:0070323|EFO:0000330 owl:Class MONDO:0004355 biolink:NamedThing childhood leukemia An acute or chronic leukemia that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric leukemia (disease)|childhood leukemia|leukemia|leukemia (disease) of childhood|childhood leukemia (disease) UMLS:C1332977|NCIT:C4989|DOID:7757 owl:Class GO:0032940 biolink:NamedThing secretion by cell The controlled release of a substance by a cell. tmpak2llvmy_mondo_relaxed.owl cellular secretion owl:Class HGNC:12703 biolink:NamedThing BEST1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020641 biolink:NamedThing respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. tmpak2llvmy_mondo_relaxed.owl tumor of the respiratory tract|neoplasm of respiratory tract|respiratory tract neoplasm|neoplasm of the respiratory tract|tract neoplasm, respiratory|respiratory system neoplasm|neoplasm, respiratory tract|tract neoplasms, respiratory|tumor of respiratory tract|respiratory tract tumor|neoplasms, respiratory tract SCTID:126667002|MESH:D012142|NCIT:C3355|EFO:0003853 owl:Class UBERON:0009636 biolink:NamedThing prechordal cartilage Chondrocranium chondrification center that that forms anterior body of sphenoid, containing the sella turcica and posterior body of sphenoid. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003932 biolink:NamedThing cartilage element of chondrocranium A cartilage element of chondrocranium. Example: neurocranial trabecula. tmpak2llvmy_mondo_relaxed.owl cartilaginous element of chondrocranium|cartilage of chondrocranium|neurocranium cartilage|chondrocranium cartilage owl:Class UBERON:0001826 biolink:NamedThing nasal cavity mucosa The mucous membrane that lines the nasal cavity[MP]. tmpak2llvmy_mondo_relaxed.owl mucosa of nose|nasal mucosa|mucous membrane of nose|tunica mucosa nasi|tunica mucosa nasalis owl:Class MONDO:0020843 biolink:NamedThing pseudomembranous diphtheritic conjunctivitis Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl conjunctival diphtheria|pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria NCIT:C34543|SCTID:7773002|ICD9:032.81|UMLS:C0012554 owl:Class MONDO:0005504 biolink:NamedThing diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. tmpak2llvmy_mondo_relaxed.owl Corynebacterium infection ICD9:032.9|ICD10:A36.1|ICD10:A36.8|UMLS:C0012546|ICD10:A36.3|DOID:11405|ICD10:A36.0|NCIT:C34541|ICD10:A36.9|Orphanet:1679|GARD:0001875|SCTID:397428000|MedDRA:10013023|MESH:D004165|ICD10:A36|ICD9:032|EFO:0005549|ICD10:A36.2 https://rarediseases.info.nih.gov/diseases/1875/diphtheria owl:Class MONDO:0015877 biolink:NamedThing malformative syndrome with dentinogenesis imperfecta tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:180766|UMLS:CN200485 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0060596 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal limb anomalies tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with dysmorphic facies and distal limb anomalies|NEDDFL OMIM:617755|Orphanet:528084|UMLS:C4540327 Editor note: Check ORDO class, may refer to more generic class owl:Class CHEBI:61655 biolink:NamedThing steroid saponin Any saponin derived from a hydroxysteroid. tmpak2llvmy_mondo_relaxed.owl sterol glycoside|glycosyl steroid|glycosteroid|steroid saponins|steroidal glycosides|steroidal glycoside|steroid glycoside|sterol glycosides|steryl glycoside|steroid glycosides|glycosteroids|steryl glycosides|glycosyl steroids owl:Class CHEBI:35341 biolink:NamedThing steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids.|Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene. tmpak2llvmy_mondo_relaxed.owl Steroid|steroids|a steroid owl:Class ENVO:01001781 biolink:NamedThing part of a landmass A solid astronomical body part which is part of the landmass of that body. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000191 biolink:NamedThing solid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes. tmpak2llvmy_mondo_relaxed.owl physiographic feature|geological feature owl:Class GO:0034250 biolink:NamedThing positive regulation of cellular amide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpak2llvmy_mondo_relaxed.owl positive regulation of amide metabolism owl:Class MONDO:0001444 biolink:NamedThing Chagas disease A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. tmpak2llvmy_mondo_relaxed.owl American trypanosomiasis|Chagas' disease with nervous system involvement|infection by trypanosoma cruzi|infection caused by trypanosoma cruzi|Chagas' disease with other organ involvement|south American trypanosomiasis|Trypanosoma cruzi infectious disease|Chagas' disease with digestive system involvement|Chagas-mazza disease|Trypanosoma cruzi caused disease or disorder|Chagas' disease|Trypanosoma cruzi disease or disorder|Chagas disease ICD10:B57|EFO:0008559|ICD9:086.2|ICD10:B57.3|NCIT:C84629|ICD10:B57.0|UMLS:C0153125|MESH:D014355|KEGG:05142|UMLS:C0348782|UMLS:C0348781|ICD10:B57.4|MedDRA:10001935|ICD10:B57.2|ICD10:B57.5|UMLS:C0041234|Orphanet:3386|ICD10:B57.1|SCTID:77506005|DOID:12140 owl:Class HGNC:4620 biolink:NamedThing GSN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005725 biolink:NamedThing cyclosporiasis A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. tmpak2llvmy_mondo_relaxed.owl cyclosporosis|Cyclospora infectious disease|intestinal infection caused by Cyclospora cayetanensis|Cyclospora infection|Cyclospora cayetanensis infectious disease|Cyclospora disease or disorder|Cyclospora cayetanensis disease or disorder|Cyclospora cayetanensis caused disease or disorder|Cyclospora caused disease or disorder|infection of intestine caused by Cyclospora cayetanensis ICD9:007.5|NCIT:C128409|GARD:0009528|UMLS:C4274225|DOID:12750|ICD10:A07.4|ICD10:A07.3|SCTID:716860005|UMLS:C0343398|Orphanet:210|MESH:D021866|EFO:0007230|SCTID:240372001 https://github.com/monarch-initiative/mondo/issues/3694 owl:Class MONDO:0005707 biolink:NamedThing coccidiosis A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. tmpak2llvmy_mondo_relaxed.owl intestinal coccidiosis|coccidiosis (& [intestinal]) EFO:0007212|ICD9:007.2|NCIT:C34493|MESH:D003048|UMLS:C0009187|DOID:2113|SCTID:62005008 owl:Class MONDO:0006324 biolink:NamedThing normal breast-like subtype of breast carcinoma A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues. tmpak2llvmy_mondo_relaxed.owl normal breast-like subtype of breast carcinoma|normal breast-like subtype of breast cancer NCIT:C53557|UMLS:C3642471|EFO:1000402 owl:Class MONDO:0006116 biolink:NamedThing breast carcinoma by gene expression profile A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. tmpak2llvmy_mondo_relaxed.owl breast carcinoma by gene expression profile NCIT:C53553|EFO:1000143|UMLS:C3642344 owl:Class HGNC:6482 biolink:NamedThing LAMA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005576 biolink:NamedThing cryoglobulinemia Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. tmpak2llvmy_mondo_relaxed.owl Cryoimmunoglobulinaemia|cryoglobulinemia GARD:0006217|ICD9:273.2|DOID:2917|ICD10:D89.1|NCIT:C26736|EFO:0005846|SCTID:30911005|MESH:D003449|UMLS:C0010403 https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia owl:Class MONDO:0002459 biolink:NamedThing type IV hypersensitivity disease A disease that has its basis in the disruption of type IV hypersensitivity. tmpak2llvmy_mondo_relaxed.owl type 4 hypersensitivity reaction|type IV hypersensitivity|delayed-type hypersensitivity|delayed hypersensitivity reaction|immunoproliferative disease|disorder of type IV hypersensitivity|hypersensitivity reaction type IV disease|type IV hypersensitivity reaction|DTH|delayed-type hypersensitivity response NCIT:C3115|UMLS:C0020522|ICD10:C88.9|DOID:2916 We make this equivalent with the UMLS concept for the reaction owl:Class MONDO:0013617 biolink:NamedThing overgrowth-macrocephaly-facial dysmorphism syndrome This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl macrocephaly, macrosomia, and facial dysmorphism syndrome|RNF135-related overgrowth syndrome|MMFD OMIM:614192|UMLS:C3280095|SCTID:722122000|ICD10:Q87.3|Orphanet:137634 owl:Class MONDO:0008432 biolink:NamedThing ketone compounds, ability to smell tmpak2llvmy_mondo_relaxed.owl ketone compounds, ability to smell OMIM:182270 owl:Class UBERON:0003497 biolink:NamedThing abdomen blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of abdomen owl:Class UBERON:0003835 biolink:NamedThing abdominal segment blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of abdominal segment of trunk|abdominal segment of trunk blood vessel owl:Class MONDO:0004501 biolink:NamedThing fallopian tube cystadenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. tmpak2llvmy_mondo_relaxed.owl fallopian tube serous cystadenofibroma|cystadenofibroma of fallopian tube|fallopian tube cystadenofibroma UMLS:C1517111|NCIT:C40114|DOID:8211 owl:Class MONDO:0003464 biolink:NamedThing cystadenofibroma A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue. tmpak2llvmy_mondo_relaxed.owl cystadenofibroma NCIT:C8985|DOID:5482|MESH:D062625 owl:Class MONDO:0017780 biolink:NamedThing 20p13 microdeletion syndrome 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. tmpak2llvmy_mondo_relaxed.owl 20p subtelomeric deletion syndrome|Del(20)(p13)|monosomy 20p13 Orphanet:313781|ICD10:Q93.5|UMLS:CN203720 owl:Class MONDO:0016898 biolink:NamedThing partial monosomy of the short arm of chromosome 20 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 20p|chromosome 20p deletion|20p deletion|partial monosomy of the short arm of chromosome type 20|20p monosomy|Pure partial 20p deletion|partial deletion of the short arm of chromosome 20|partial monosomy of chromosome 20p|deletion 20p|partial monosomy 20p|monosomy 20p GARD:0003739|Orphanet:261992|ICD10:Q93.5|UMLS:CN036364|MESH:C535370 owl:Class MONDO:0019776 biolink:NamedThing Juberg-Marsidi syndrome Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl juberg Marsidi syndrome Orphanet:93972|SCTID:721875000 owl:Class MONDO:0010663 biolink:NamedThing X-linked intellectual disability-hypotonic face syndrome Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. tmpak2llvmy_mondo_relaxed.owl Holmes-Gang syndrome|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|intellectual disability-hypotonic facies syndrome, X-linked, type 1|X-linked hypogonadism gynecomastia intellectual disability|Smith-Fineman-Myers syndrome 1|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|mental retardation-hypotonic facies syndrome, X-linked, type 1|XLMR-hypotonic facies syndrome|MRXHF1|Juberg-Marsidi syndrome|Carpenter-Waziri syndrome|JMS|X-linked hypogonadism gynecomastia mental retardation|Chudley-Lowry syndrome|Juberg Marsidi syndrome|mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|intellectual disability-hypotonic facies syndrome, X-linked, 1|Juberg-Marsidi mental retardation syndrome|mental retardation-hypotonic facies syndrome, X-linked, 1|sfms OMIM:309580|UMLS:CN205653|Orphanet:73220|GARD:0000081 owl:Class HP:0010985 biolink:NamedThing Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023613 peter 2011-02-08T10:16:28Z human_phenotype owl:Class HP:0000005 biolink:NamedThing Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. tmpak2llvmy_mondo_relaxed.owl Inheritance UMLS:C1708511 HP:0001461|HP:0001453 human_phenotype owl:Class MONDO:0002457 biolink:NamedThing Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. tmpak2llvmy_mondo_relaxed.owl Franceschetti-Klein syndrome|mandibulofacial dysostosis without limb anomalies|MFD1|TCOF|Treacher Collins syndrome|Treacher-Collins syndrome|TCS|Franceschetti syndrome UMLS:C0265241|DOID:2908|GARD:0009124|OMIMPS:154500|NCIT:C75018|ICD10:Q75.4|SCTID:62767009|Orphanet:861|MedDRA:10051456 owl:Class MONDO:0001334 biolink:NamedThing hypertrichosis of eyelid A hypertrichosis (disease) that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid hypertrichosis (disease)|hypertrichosis (disease) of eyelid ICD10:H02.86|DOID:11669|UMLS:C0155213|ICD9:374.54|SCTID:79830009 owl:Class MONDO:0010323 biolink:NamedThing Atkin-Flaitz syndrome Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl Atkin-Flaitz syndrome|X-linked intellectual disability, Atkin type|Atkin syndrome ICD10:Q87.8|OMIM:300431|Orphanet:1193|GARD:0003537|SCTID:718577005 owl:Class CHEBI:35722 biolink:NamedThing sulfated glycosaminoglycan tmpak2llvmy_mondo_relaxed.owl glycosaminoglycan sulfate|sulfated glycosaminoglycans|glycosaminoglycan sulfates owl:Class CHEBI:18085 biolink:NamedThing glycosaminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. tmpak2llvmy_mondo_relaxed.owl glicosaminoglicano|glycosaminoglycane|glycosaminoglycans|Glykosaminoglykan|Glycosaminoglycan|glycosaminoglycan owl:Class MONDO:0013689 biolink:NamedThing ovarian dysgenesis 3 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. tmpak2llvmy_mondo_relaxed.owl ovarian dysgenesis 3|ovarian dysgenesis type 3|PSMC3IP 46 XX gonadal dysgenesis|ODG3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP OMIM:614324|DOID:0080495|UMLS:C3280471 owl:Class MONDO:0009299 biolink:NamedThing 46 XX gonadal dysgenesis 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. tmpak2llvmy_mondo_relaxed.owl 46,XX ovarian dysgenesis|46,XX complete gonadal dysgenesis|XX female gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|46,XX pure gonadal dysgenesis|XX gonadal dysgenesis|46,XX gonadal dysgenesis|ovarian dysgenesis|FSH-RO|XX-GD|hypergonadotropic ovarian dysgenesis ICD10:Q99.1|Orphanet:243|UMLS:C0949595|SCTID:95198001|NCIT:C120197|OMIMPS:233300|MESH:D023961|DOID:14450 owl:Class MONDO:0011116 biolink:NamedThing lung agenesis-heart defect-thumb anomalies syndrome Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. tmpak2llvmy_mondo_relaxed.owl Manouvrier syndrome|LACHT|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies|pulmonary aplasia and triphalangia of the thumb|Mardini-Nyhan association|Mardini-Nyhan syndrome SCTID:721976003|GARD:0003378|Orphanet:1120|ICD10:Q87.8|OMIM:601612|MESH:C535708 https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome owl:Class MONDO:0015222 biolink:NamedThing syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation Orphanet:108995|UMLS:CN226638 owl:Class UBERON:0001205 biolink:NamedThing submucosa of small intestine submucosal tissue in the small intestines. tmpak2llvmy_mondo_relaxed.owl submucosa of small bowel|tela submucosa intestini tenuis|small intestine submucosa|small bowel submucosa|tela submucosa (intestinum tenue)|small intestinal submucosa owl:Class MONDO:0013138 biolink:NamedThing vertigo, benign recurrent, 2 tmpak2llvmy_mondo_relaxed.owl BRV2|vertigo, benign recurrent, 2 UMLS:C2751289|MESH:C567749|OMIM:613106 owl:Class MONDO:0004900 biolink:NamedThing peripheral vertigo tmpak2llvmy_mondo_relaxed.owl ICD9:386.10|SCTID:50438001|DOID:9847|ICD10:H81.3|ICD10:H81.399|ICD9:386.19|ICD9:386.1|ICD10:H81.39|UMLS:C0155501 owl:Class MONDO:0007300 biolink:NamedThing cerebral sarcoma A sarcoma involving a telencephalon. tmpak2llvmy_mondo_relaxed.owl cerebral sarcoma|sarcoma of telencephalon|telencephalon sarcoma OMIM:117600|UMLS:C1861714|GARD:0010073|MESH:C537946 https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma owl:Class MONDO:0002216 biolink:NamedThing brain sarcoma A sarcoma arising from the brain. tmpak2llvmy_mondo_relaxed.owl brain sarcoma|sarcoma of brain|primary brain sarcoma|sarcoma of the brain DOID:2132|UMLS:C1332607|NCIT:C5154 owl:Class CL:0000226 biolink:NamedThing single nucleate cell A cell with a single nucleus. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000003 biolink:NamedThing native cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). tmpak2llvmy_mondo_relaxed.owl cell in vivo CARO:0000013 To accommodate unicellular organisms better, 'cell in vivo' has been re-labeled 'native cell' to better represent its intended meaning - that is, that it is a cell in the context of a multicellular organism or in a natural environment. 'Native' is intended to contrast with 'in vitro', which refers to cells or other biological entities that have been intentionally placed in a controlled, non-natural setting for the purpose of study or manipulation. (MAH 1.12.12). cell owl:Class GO:0106016 biolink:NamedThing positive regulation of inflammatory response to wounding Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014665 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2V Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2V|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2V|hereditary adult-onset painful axonal polyneuropathy|CMT2V|Charcot-Marie-Tooth disease, axonal, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation|NAGLU Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, type 2V|Charcot-Marie-Tooth disease caused by mutation in NAGLU UMLS:C4225306|ICD10:G60.0|OMIM:616491|DOID:0110178|Orphanet:447964 owl:Class MONDO:0002849 biolink:NamedThing liver rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. tmpak2llvmy_mondo_relaxed.owl liver rhabdomyosarcoma (disease)|rhabdomyosarcoma of the liver|rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|hepatic rhabdomyosarcoma|rhabdomyosarcoma of liver NCIT:C5834|UMLS:C1333975|DOID:4047 owl:Class MONDO:0005212 biolink:NamedThing rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma|rhabdomyosarcoma (disease)|rhabdomyosarcoma, malignant rhabdomyosarcoma (disease) UMLS:C0035412|ONCOTREE:RMS|EFO:0002918|ICD9:171.9|MESH:D012208|MedDRA:10039022|HP:0002859|NCIT:C3359|ICDO:8900/3|ICD10:C49.9|DOID:3247|Orphanet:780|SCTID:302847003 owl:Class UBERON:0005800 biolink:NamedThing section of aorta Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. tmpak2llvmy_mondo_relaxed.owl aortic section|segment of aorta|portion of aorta|aortic segment owl:Class UBERON:0001021 biolink:NamedThing nerve An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. tmpak2llvmy_mondo_relaxed.owl peripheral nerve|nerves|neural subtree owl:Class GO:0097708 biolink:NamedThing intracellular vesicle Any vesicle that is part of the intracellular region. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031982 biolink:NamedThing vesicle Any small, fluid-filled, spherical organelle enclosed by membrane. tmpak2llvmy_mondo_relaxed.owl membrane-enclosed vesicle|membrane-bounded vesicle owl:Class MONDO:0002433 biolink:NamedThing malignant cranial nerve neoplasm Abnormal malignant growth of the cells that comprise the cranial nerve. tmpak2llvmy_mondo_relaxed.owl malignant cranial nerve neoplasm|malignant neoplasm of cranial nerve|malignant tumor of the cranial nerve|malignant cranial nerve tumor|malignant tumor of cranial nerve|malignant neoplasm of cranial nerves|cranial nerve neoplasm, malignant|cranial nerve malignant neoplasm|cranial nerve cancer|cancer of cranial nerve|malignant neoplasm of the cranial nerve ICD10:C72.50|ICD9:192.0|UMLS:C0153644|NCIT:C3571|DOID:2815|SCTID:188307009 owl:Class MONDO:0006060 biolink:NamedThing nasopharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the nasopharynx. tmpak2llvmy_mondo_relaxed.owl EFO:1000058 owl:Class UBERON:0004346 biolink:NamedThing gubernaculum (male or female) embryonic structures which begin as undifferentiated mesenchyme attaching to the caudal end of the gonads. The gubernaculum is present only during the development of the urinary and reproductive organs, being replaced by distinct vestiges in males and females[WP]. Enitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus[MP] tmpak2llvmy_mondo_relaxed.owl gubernaculum|caudal suspensory ligament|Gabernaculum|gubernaculae owl:Class UBERON:0002264 biolink:NamedThing olfactory bulb A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO]. tmpak2llvmy_mondo_relaxed.owl olfactory lobe|bulbus olfactorius|bulbus olfactorius (Morgagni)|olfactory lobe (Barr & Kiernan) owl:Class GO:0090206 biolink:NamedThing negative regulation of cholesterol metabolic process Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002760 biolink:NamedThing positive regulation of antimicrobial humoral response Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. tmpak2llvmy_mondo_relaxed.owl up-regulation of antimicrobial humoral response|up regulation of antimicrobial humoral response|upregulation of antimicrobial humoral response|activation of antimicrobial humoral response|stimulation of antimicrobial humoral response owl:Class MONDO:0013180 biolink:NamedThing asthma-related traits, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl ASRT8|Rhinoconjunctivitis, susceptibility to|asthma-RELATED traits, susceptibility to, 8|asthma-related traits, susceptibility to, 8 OMIM:613207 owl:Class MONDO:0010940 biolink:NamedThing inherited susceptibility to asthma tmpak2llvmy_mondo_relaxed.owl asthma, bronchial|asthma-related traits, susceptibility to|asthma, protection against|asthma, diminished response to Antileukotriene treatment 1N|asthma, susceptibility to OMIM:600807 owl:Class MONDO:0022907 biolink:NamedThing cutaneous sclerosis tmpak2llvmy_mondo_relaxed.owl GARD:0009752 https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis owl:Class UBERON:0037459 biolink:NamedThing hair of limb tmpak2llvmy_mondo_relaxed.owl limb hair owl:Class UBERON:0001037 biolink:NamedThing strand of hair A filament, mostly protein, that grows from follicles found in the dermis[WP]. tmpak2llvmy_mondo_relaxed.owl hair|microchaeta|quill|fur|whisker|setulae|coat hair|vibrissa|coat/ hair owl:Class MONDO:0005039 biolink:NamedThing reproductive system disease A disease involving the reproductive system. tmpak2llvmy_mondo_relaxed.owl reproductive system disorder|genital system disease|reproductive system disease or disorder|reproductive system disease|disease of reproductive system|genital disorders|disease or disorder of reproductive system|reproductive disease|disorder of reproductive system Wikipedia:Reproductive_system_disease|SCTID:362968007|UMLS:C0178829|DOID:15|EFO:0000512|NCIT:C4875 owl:Class MONDO:0004714 biolink:NamedThing atrophic muscular disease A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. tmpak2llvmy_mondo_relaxed.owl atrophic muscular disorder DOID:913|NCIT:C84574 owl:Class MONDO:0002643 biolink:NamedThing vestibular disease Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. tmpak2llvmy_mondo_relaxed.owl vertigo, vestibular disorder|disorder of vestibular system|disorder of vestibular labyrinth|disease or disorder of vestibular labyrinth|disease of vestibular system|vestibular labyrinth disease or disorder|vestibular labyrinth disease|disease of vestibular labyrinth|vestibular system disease ICD10:H81|DOID:3426|ICD10:H81.9|ICD10:H81.90|MESH:D015837|UMLS:C0042594 owl:Class MONDO:0019056 biolink:NamedThing neuromuscular disease Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions tmpak2llvmy_mondo_relaxed.owl nerve and muscle disorder|neuromuscular disease ICD9:358.9|Orphanet:68381|DOID:440|ICD9:358|MESH:D009468|UMLS:C0027868|EFO:1001902|MedDRA:10029323|ICD10:G70.9 owl:Class MONDO:0004207 biolink:NamedThing pulmonary artery leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of the pulmonary artery|pulmonary artery leiomyosarcoma|leiomyosarcoma of pulmonary artery DOID:7389|NCIT:C5373|UMLS:C1335572 owl:Class ENVO:3100011 biolink:NamedThing concentration of dioxygen in liquid water The concentration of dioxygen when measured in liquid water. tmpak2llvmy_mondo_relaxed.owl liquid water dioxygen concentration owl:Class MONDO:0003321 biolink:NamedThing hereditary Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) tmpak2llvmy_mondo_relaxed.owl familial Wilms' tumor|hereditary nephroblastoma|familial Wilms tumor|WT1|hereditary renal adenosarcoma|hereditary Wilms tumor|hereditary kidney adenosarcoma|hereditary Wilms' tumor OMIMPS:194070|NCIT:C8496|DOID:5183|UMLS:C0677779 owl:Class GO:0060326 biolink:NamedThing cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006935 biolink:NamedThing chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpak2llvmy_mondo_relaxed.owl taxis in response to chemical stimulus owl:Class HGNC:10419 biolink:NamedThing RPS29 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011595 biolink:NamedThing nonsyndromic congenital nail disorder 7 tmpak2llvmy_mondo_relaxed.owl onychodysplasia, isolated congenital|congenital onychodysplasia of the index fingers|COIF syndrome|nail dysplasia, isolated congenital|COIF|isolated congenital nail dysplasia|NDNC7|nail disorder, nonsyndromic congenital, 7|congenital isolated nail dysplasia|isolated congenital onychodysplasia|nonsyndromic congenital nail disorder type 7|Iso-Kikuchi syndrome GARD:0009761|UMLS:C1853984|ICD10:Q84.6|Orphanet:79144|MESH:C538333|SCTID:403281007|DOID:0080085|OMIM:605779 Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class MONDO:0004456 biolink:NamedThing cocaine abuse Disorders related or resulting from use of cocaine. tmpak2llvmy_mondo_relaxed.owl SCTID:78267003|DOID:809|ICD9:305.6|ICD10:F14.1|ICD9:305.60 owl:Class MONDO:0002491 biolink:NamedThing substance abuse The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed. tmpak2llvmy_mondo_relaxed.owl ICD9:305.90|SCTID:66214007|DOID:302 owl:Class MONDO:0004717 biolink:NamedThing peliosis hepatis A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. tmpak2llvmy_mondo_relaxed.owl hepatic peliosis EFO:1001387|MESH:D010382|DOID:914|UMLS:C0030781|SCTID:58008004|ICD10:K76.4 owl:Class MONDO:0042924 biolink:NamedThing Vagneur-Triolle-Ripert syndrome tmpak2llvmy_mondo_relaxed.owl Vagneur Triolle Ripert syndrome|hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age GARD:0000271 owl:Class ENVO:02000105 biolink:NamedThing clay dust Dust which is derived from clay material. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002008 biolink:NamedThing dust Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006575 biolink:NamedThing cellular modified amino acid metabolic process The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. tmpak2llvmy_mondo_relaxed.owl cellular modified amino acid metabolism|cellular amino acid derivative metabolism|amino acid derivative metabolic process|modified amino acid metabolic process|cellular amino acid derivative metabolic process|modified amino acid metabolism owl:Class GO:1901564 biolink:NamedThing organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. tmpak2llvmy_mondo_relaxed.owl organonitrogen compound metabolism owl:Class UBERON:0003838 biolink:NamedThing abdominal segment connective tissue A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdominal segment of trunk portion of connective tissue|abdominal segment of trunk connective tissue|abdominal segment of trunk textus connectivus|textus connectivus of abdominal segment of trunk|connective tissue of abdominal segment of trunk|portion of connective tissue of abdominal segment of trunk owl:Class MONDO:0019386 biolink:NamedThing progressive rubella panencephalitis A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age. tmpak2llvmy_mondo_relaxed.owl rubella panencephalitis UMLS:C1305924|ICD10:G05.1*|Orphanet:83616|ICD10:B06.0+|https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis|SCTID:10082001 owl:Class MONDO:0020069 biolink:NamedThing chronic encephalitis Chronic form of encephalitis. tmpak2llvmy_mondo_relaxed.owl encephalitis, chronic Orphanet:98255|UMLS:C0006109 owl:Class MONDO:0007245 biolink:NamedThing neurofibromatosis type 6 Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. tmpak2llvmy_mondo_relaxed.owl familial cafeB4-au-lait spots|cafe au lait spots, multiple|multiple café-au-lait spots|familial cafe´-au-lait spots|familial café-au-lait spots|NF6|multiple cafe´-au-lait spots|multiple cafe´-au-lait syndrome|multiple cafe-au-lait syndrome|multiple café-au-lait syndrome|multiple cafe-au-lait spots|cafe-au-lait spots, multiple|neurofibromatosis type 6|autosomal dominant café au lait spots|familial cafe-au-lait spots GARD:0003967|UMLS:C1861975|ICD10:L81.3|GARD:0001050|OMIM:114030|Orphanet:2678|UMLS:CN035858|MESH:C537421 https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots owl:Class MONDO:0019289 biolink:NamedThing hyperpigmentation of the skin tmpak2llvmy_mondo_relaxed.owl ICD9:709.09|EFO:0009047|Orphanet:79375|HP:0000953|SCTID:49765009 owl:Class UBERON:0004864 biolink:NamedThing vasculature of retina A vasculature that is part of a retina [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl retinal vasculature|retinal blood vessels|set of retinal blood vessels|retinal blood vessels set|vasa sanguinea retinae|retina vasculature|retina vasculature of camera-type eye|set of blood vessels of retina owl:Class PATO:0001795 biolink:NamedThing increased coiling A coiling which is relatively high. tmpak2llvmy_mondo_relaxed.owl high coiling owl:Class PATO:0002305 biolink:NamedThing increased object quality A quality of an object that has a value that is increased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021080 biolink:NamedThing blood vessel neoplasm A neoplasm arising from arteries or veins. tmpak2llvmy_mondo_relaxed.owl blood vessel neoplasm|blood vessel neoplasm (disease)|tumor of blood vessel|blood vessel tumor|neoplasm of blood vessel NCIT:C7387|SCTID:126736007 owl:Class MONDO:0024296 biolink:NamedThing vascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. tmpak2llvmy_mondo_relaxed.owl tumor of vascular tissue|vascular system neoplasm|vascular tissue neoplasm|neoplasm of vascular tissue|neoplasm of vascular system|vascular system neoplasm (disease)|vascular tumor|tumors, vascular|vascular tumors|tumor of vascular system|vascular neoplasm|vascular neoplasms|vascular tissue tumor|neoplasms, vascular|vascular system tumor NCIT:C7388 owl:Class MONDO:0002867 biolink:NamedThing pancreatic cystadenocarcinoma A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. tmpak2llvmy_mondo_relaxed.owl cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas|pancreas cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma - pancreas DOID:4073|SCTID:235966007|NCIT:C3874|UMLS:C0238337 owl:Class MONDO:0005596 biolink:NamedThing cystadenocarcinoma A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. tmpak2llvmy_mondo_relaxed.owl cystadenocarcinoma|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma, malignant MESH:D003536|NCIT:C2971|DOID:3111|ICDO:8440/3|UMLS:C0010631|EFO:0006387 owl:Class MONDO:0006395 biolink:NamedThing rectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl Villotubular adenoma of the rectum|tubulovillous adenoma of rectum|tubulovillous adenoma of the rectum|rectal Villotubular adenoma|Villotubular adenoma of rectum|rectal tubulovillous adenoma SCTID:448428002|EFO:1000505|NCIT:C5620|UMLS:C1335691 owl:Class UBERON:0003319 biolink:NamedThing mesenchyme of carpal region Mesenchyme of the carpal region that contributes to the carpal skeleton. tmpak2llvmy_mondo_relaxed.owl carpal region mesenchyme|carpus mesenchyme|wrist mesenchyme|mesenchyme of wrist owl:Class UBERON:0003859 biolink:NamedThing forelimb mesenchyme Mesenchyme that is part of a developing forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of forelimb|wing mesenchyme|fore limb mesenchyme|mesenchyme of fore limb|mesenchyme of upper extremity|anteriormost limb mesenchyme|mesenchyme of superior member|upper extremity mesenchyme|superior member mesenchyme|mesenchyme of anteriormost limb owl:Class MONDO:0013541 biolink:NamedThing complex cortical dysplasia with other brain malformations 1 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene. tmpak2llvmy_mondo_relaxed.owl complex cortical dysplasia with other brain malformations caused by mutation in TUBB3|complex cortical dysplasia with other brain malformations type 1|cortical dysplasia, complex, with other brain malformations 1|CDCBM1|cortical dysplasia, Complex, with Other brain malformations type 1|TUBB3 complex cortical dysplasia with other brain malformations|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation DOID:0090137|ICD10:Q04.3|UMLS:CN203402|OMIM:614039|GARD:0013032|Orphanet:300570 owl:Class MONDO:0009698 biolink:NamedThing Unverricht-Lundborg syndrome Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic, 1|epilepsy, progressive myoclonic, 1A|PME type 1|Uld|epilepsy, progressive myoclonus 1|Unverricht - Lundborg disease|Unverricht-Lundborg syndrome|Baltic myoclonic epilepsy|epilepsy, progressive myoclonic type 1|Unverricht-Lundborg disease|Unverricht's disease|progressive myoclonic epilepsy type 1|progressive myoclonus epilepsy type 1|myoclonus progressive epilepsy of Unverricht and Lundborg|myoclonic epilepsy of Unverricht and Lundborg|ULD|progressive myoclonic epilepsy|EPM1|progressive myoclonus epilepsy Baltic myoclonic epilepsy MESH:D020194|OMIM:254800|DOID:3535|ICD10:G40.3|SCTID:230423006|MedDRA:10054895|UMLS:C0751785|Orphanet:308|GARD:0003876 owl:Class GO:1901135 biolink:NamedThing carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivative metabolism owl:Class GO:0071704 biolink:NamedThing organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. tmpak2llvmy_mondo_relaxed.owl organic molecular entity metabolism|organic molecular entity metabolic process|organic substance metabolism owl:Class GO:1904221 biolink:NamedThing negative regulation of serine C-palmitoyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpak2llvmy_mondo_relaxed.owl down regulation of 3-oxosphinganine synthetase activity|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of SPT|downregulation of serine C-palmitoyltransferase activity|down-regulation of SPT|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|negative regulation of 3-oxosphinganine synthetase activity|down-regulation of 3-oxosphinganine synthetase activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of 3-oxosphinganine synthetase activity|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of serine C-palmitoyltransferase activity|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|downregulation of SPT|inhibition of 3-oxosphinganine synthetase activity|down-regulation of serine C-palmitoyltransferase activity|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|negative regulation of SPT|down regulation of serine C-palmitoyltransferase activity|inhibition of SPT owl:Class GO:0051348 biolink:NamedThing negative regulation of transferase activity Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpak2llvmy_mondo_relaxed.owl inhibition of transferase activity|transferase inhibitor|downregulation of transferase activity|down regulation of transferase activity|down-regulation of transferase activity owl:Class MONDO:0007971 biolink:NamedThing delayed membranous cranial ossification Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. tmpak2llvmy_mondo_relaxed.owl Gonzales-del Angel syndrome|membranous cranial ossification, delayed OMIM:155980|SCTID:715524004|GARD:0001727|UMLS:C1835030|MESH:C563592|Orphanet:3034|ICD10:Q75.8 https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification owl:Class MONDO:0019791 biolink:NamedThing recessive mitochondrial ataxia syndrome tmpak2llvmy_mondo_relaxed.owl MIRAS EFO:0008816|ICD10:G11.8|Orphanet:94125|UMLS:CN206743 owl:Class MONDO:0016798 biolink:NamedThing ataxia neuropathy spectrum tmpak2llvmy_mondo_relaxed.owl UMLS:C3683791|Orphanet:254818 owl:Class GO:1905553 biolink:NamedThing regulation of blood vessel branching Any process that modulates the frequency, rate or extent of blood vessel branching. tmpak2llvmy_mondo_relaxed.owl regulation of branching involved in blood vessel morphogenesis owl:Class GO:1905330 biolink:NamedThing regulation of morphogenesis of an epithelium Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. tmpak2llvmy_mondo_relaxed.owl regulation of epithelium morphogenesis owl:Class MONDO:0005507 biolink:NamedThing gingival cancer A primary or metastatic malignant neoplasm that affects the gums. tmpak2llvmy_mondo_relaxed.owl malignant gingiva neoplasm|malignant gum neoplasm|malignant gingival tumor|malignant tumor of the gum|gingiva cancer|malignant neoplasm of the gum|malignant tumour of gingiva|malignant gum tumor|malignant neoplasm of the gingiva|malignant tumor of gum|cancer of gingiva|malignant neoplasm of gum|gum cancer|malignant tumor of gingiva|malignant tumor of the gingiva|malignant gingival neoplasm|malignant neoplasm of gingiva|malignant neoplasm of other sites of gum ICD10:C03|SCTID:363382005|ICD10:C03.9|UMLS:C0153364|MedDRA:10067807|NCIT:C9317|EFO:0005557|ICD9:143.9|ICD9:143.8|ICD9:143|DOID:8602 owl:Class MONDO:0005515 biolink:NamedThing oral cavity cancer A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of anterior portion of floor of mouth|malignant neoplasm of floor of mouth|malignant neoplasm of mouth|malignant neoplasm of lateral floor of mouth|mouth cancer|malignant oral cavity tumor|malignant neoplasm of oral cavity|oral cavity cancer|malignant neoplasm of the mouth|malignant tumor of the floor of the mouth|malignant tumor of anterior floor of mouth|malignant mouth tumor|malignant tumor of mouth|malignant mouth neoplasm|malignant tumor of oral cavity|cancer of oral cavity|malignant neoplasm of lateral portion of floor of mouth|malignant oral cavity neoplasm|malignant tumor of the mouth|malignant tumor of lateral floor of mouth ICD9:144.9|ICD10:C04.0|ICD10:C04.1|ICD9:144|EFO:0005570|NCIT:C9314|SCTID:363505006|ICD9:144.1|ICD10:C04|DOID:8618|ICD10:C04.9|ICD9:145.8|ICD9:144.0|ICD9:149.8|ICD9:145.9 owl:Class UBERON:0015056 biolink:NamedThing ischial endochondral element A ischial bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl ischial skeletal element|ischial element owl:Class GO:0098631 biolink:NamedThing cell adhesion mediator activity The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. tmpak2llvmy_mondo_relaxed.owl cell adhesion molecule|protein binding involved in cell adhesion owl:Class GO:0050839 biolink:NamedThing cell adhesion molecule binding Binding to a cell adhesion molecule. tmpak2llvmy_mondo_relaxed.owl CAM binding|cell adhesion molecule activity|adhesive extracellular matrix constituent|cell adhesion receptor activity owl:Class MONDO:0010552 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MESH:C538077|OMIM:302803|UMLS:C1844864 owl:Class MONDO:0043424 biolink:NamedThing digestive system infectious disease A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. tmpak2llvmy_mondo_relaxed.owl digestive system infection|gastrointestinal system infection|infection of gastrointestinal tract|gastrointestinal infection SCTID:715852004|NCIT:C35503 owl:Class MONDO:0003700 biolink:NamedThing brachial plexus neoplasm A neoplasm (disease) that involves the brachial nerve plexus. tmpak2llvmy_mondo_relaxed.owl brachial plexus neoplasms|tumor of brachial plexus|neoplasm of the brachial plexus|brachial nerve plexus tumor|brachial nerve plexus neoplasm (disease)|brachial plexus neoplasm|tumor of brachial nerve plexus|tumor of the brachial plexus|brachial plexus tumor|neoplasm of brachial nerve plexus|brachial nerve plexus neoplasm|neoplasm of brachial plexus DOID:5913|NCIT:C5823|UMLS:C1332602 owl:Class MONDO:0003100 biolink:NamedThing nerve plexus neoplasm A neoplasm (disease) that involves the nerve plexus. tmpak2llvmy_mondo_relaxed.owl nerve plexus tumors|neoplasm of nerve plexus|neural plexus tumors|nerve plexus tumor|nerve plexus neoplasm (disease)|tumor of nerve plexus|nerve plexus neoplasms|neural plexus neoplasms|neoplasm of the nerve plexus|tumor of the nerve plexus|nerve plexus neoplasm NCIT:C5822|DOID:4693|UMLS:C1334945 owl:Class UBERON:0007829 biolink:NamedThing pectoral girdle bone A bone that is part of a pectoral girdle region. tmpak2llvmy_mondo_relaxed.owl bone of pectoral girdle owl:Class UBERON:0007828 biolink:NamedThing girdle bone/zone A bone that is part of a appendage girdle region. tmpak2llvmy_mondo_relaxed.owl girdle bone owl:Class MONDO:0004315 biolink:NamedThing cholangiolocellular carcinoma An intrahepatic cholangiocarcinoma that arises from the canals of Hering. tmpak2llvmy_mondo_relaxed.owl cholangiolocellular carcinoma|intralobular bile duct cholangiocarcinoma|cholangiocarcinoma of intralobular bile duct|CLC UMLS:C1516490|NCIT:C41617|DOID:7642 owl:Class MONDO:0021473 biolink:NamedThing benign neoplasm of epididymis A benign neoplasm that involves the epididymis. tmpak2llvmy_mondo_relaxed.owl benign tumor of epididymis|benign epididymal neoplasm|benign neoplasm of the epididymis|benign epididymal tumor|epididymis benign neoplasm|benign tumor of the epididymis UMLS:C0154010|NCIT:C3614|SCTID:92088003|ICD9:222.3 owl:Class MONDO:0009352 biolink:NamedThing classic homocystinuria Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. tmpak2llvmy_mondo_relaxed.owl homocystinuria due to cystathionine beta-synthase deficiency|CBS deficiency|homocystinuria due to CBS deficiency|hyperhomocysteinemia, thrombotic, CBS-related|cystathionine beta-synthase deficiency|homocystinuria with or without response to pyridoxine|classic homocystinuria OMIM:236200|SCTID:24308003|ICD10:E72.1|MedDRA:10071093|GARD:0006667|Orphanet:394|UMLS:C0751202 https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency owl:Class MONDO:0020236 biolink:NamedThing lens position anomaly Partial or complete displacement of the crystalline lens from its normal position in the eye. tmpak2llvmy_mondo_relaxed.owl ectopia lentis NCIT:C125484|Orphanet:98653|ICD10:Q12.1|HP:0001083 Editor note: consider obsoleting as is a phenotypic feature owl:Class MONDO:0009716 biolink:NamedThing Richieri Costa-da Silva syndrome tmpak2llvmy_mondo_relaxed.owl Richieri Costa Da Silva syndrome|myotonia with skeletal abnormalities and mental retardation|myotonia with skeletal abnormalities and intellectual disability|myotonia-intellectual disability-skeletal anomalies syndrome OMIM:255710|GARD:0004709|UMLS:C2930978|Orphanet:3101|ICD10:Q87.8|MESH:C535675 https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome owl:Class MONDO:0016761 biolink:NamedThing spondyloepiphyseal dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. tmpak2llvmy_mondo_relaxed.owl SED and SEMD|spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|spondylo-epi-(meta)-physeal dysplasia|spondyloepiphyseal dysplasia GARD:0007687|DOID:0080027|Orphanet:253|ICD10:Q77.7|ICD9:756.9|MedDRA:10062920|Orphanet:252|SCTID:254062008 owl:Class UBERON:0009679 biolink:NamedThing set of lower jaw teeth A tooth row that is part of a skeleton of lower jaw. tmpak2llvmy_mondo_relaxed.owl mandibular dental arcade|arcus dentalis inferior|lower dental arcade|set of all lower teeth|lower jaw teeth owl:Class UBERON:0009678 biolink:NamedThing tooth row Anatomical cluster consisting of adjacent teeth constituting a row. tmpak2llvmy_mondo_relaxed.owl dental arcade|row of teeth|tooth rows owl:Class MONDO:0042497 biolink:NamedThing mycotoxicosis Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). tmpak2llvmy_mondo_relaxed.owl poisoning, fungus|fungus poisoning|fungus Poisonings|Mycotoxicoses|Poisonings, fungus|Fungi poisoning|Fungi caused poisoning SCTID:26033009|MESH:D015651 owl:Class UBERON:0004815 biolink:NamedThing lower respiratory tract epithelium An epithelium that is part of a lower respiratory tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of lower respiratory tract|lower respiratory tract epithelial tissue|epithelium of lower respiratory tract owl:Class UBERON:0005384 biolink:NamedThing nasal cavity epithelium An epithelium that lines the nasal cavity. tmpak2llvmy_mondo_relaxed.owl nasal epithelium|nasal mucosa owl:Class UBERON:0019306 biolink:NamedThing nose epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016167 biolink:NamedThing optic pathway glioma Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). tmpak2llvmy_mondo_relaxed.owl glioma of the visual pathway|glioma of the optic tract|optic pathway glioma|optic tract glioma|glioma of visual pathway|visual pathway glioma|glioma of optic tract GARD:0004107|UMLS:C0796418|ICD10:D33.3|NCIT:C8567|Orphanet:2086 https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma owl:Class MONDO:0021042 biolink:NamedThing glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. tmpak2llvmy_mondo_relaxed.owl glioma|neuroglial neoplasm|neoplasm of neuroglia|neoplasm of the neuroglia|tumor of the neuroglia|glial tumor|glial neoplasm|tumor of neuroglia|neuroglial tumor Orphanet:182067|UMLS:C0017638|GARD:0006513|MESH:D005910|NCIT:C3059|SCTID:393564001 owl:Class MONDO:0006827 biolink:NamedThing lateral medullary syndrome A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. tmpak2llvmy_mondo_relaxed.owl Posterior inferior cerebellar artery syndrome|PICA syndrome|Wallenberg's syndrome|Vertebral artery syndrome|Wallenberg syndrome|Lateral medullary syndrome DOID:3522|UMLS:C0043019|MedDRA:10024033|MESH:D014854|EFO:1001011|ICD10:G46.3|ICD9:437.1|GARD:0009263|SCTID:78569004|NCIT:C84807 owl:Class CHEBI:33431 biolink:NamedThing elemental chlorine tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33434 biolink:NamedThing elemental halogen tmpak2llvmy_mondo_relaxed.owl elemental halogens|elemental halogen owl:Class MONDO:0003459 biolink:NamedThing cervical adenofibroma A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements. tmpak2llvmy_mondo_relaxed.owl NCIT:C40230|UMLS:C1516402|DOID:5476 owl:Class MONDO:0000644 biolink:NamedThing cervical benign neoplasm A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the cervix uteri|benign cervix uteri tumor|benign tumor of the uterine cervix|benign tumor of cervix uteri|uterine cervix benign neoplasm|benign uterine cervix tumor|benign neoplasm of cervix uteri|benign uterine cervix neoplasm|benign neoplasm of the uterine cervix|benign tumor of the cervix uteri|benign cervix uteri neoplasm|benign neoplasm of uterine cervix|benign tumor of uterine cervix|benign cervical neoplasm UMLS:C0153997|DOID:0060110|NCIT:C3607|SCTID:92056006 owl:Class MONDO:0012589 biolink:NamedThing Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. tmpak2llvmy_mondo_relaxed.owl encephalopathy, Severe epileptic, with autonomic dysfunction|Pitt Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|PTHS|intellectual disability, Syndromal, with intermittent hyperventilation|Pitt-Hopkins syndrome|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea GARD:0004372|SCTID:702344008|UMLS:C1970431|NCIT:C129872|DOID:0060488|MESH:C537403|ICD9:758.5|OMIM:610954|Orphanet:2896|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome owl:Class CL:0000209 biolink:NamedThing taste receptor cell A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste. tmpak2llvmy_mondo_relaxed.owl taste bud cell FMA:67910 cell owl:Class CL:0000098 biolink:NamedThing sensory epithelial cell A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. tmpak2llvmy_mondo_relaxed.owl neuroepithelial cell BTO:0004301 The term "neuroepithelial cell" is used to describe both this cell type and neurecto-epithelial cell (CL:0000710). cell owl:Class GO:0032689 biolink:NamedThing negative regulation of interferon-gamma production Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpak2llvmy_mondo_relaxed.owl down regulation of interferon-gamma production|downregulation of interferon-gamma production|negative regulation of type II interferon production|negative regulation of interferon-gamma secretion|inhibition of interferon-gamma production|negative regulation of interferon-gamma biosynthetic process|down-regulation of interferon-gamma production owl:Class GO:0032649 biolink:NamedThing regulation of interferon-gamma production Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpak2llvmy_mondo_relaxed.owl regulation of type II interferon production|regulation of interferon-gamma secretion|regulation of interferon-gamma biosynthetic process owl:Class MONDO:0008420 biolink:NamedThing seborrheic keratosis A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. tmpak2llvmy_mondo_relaxed.owl basal cell papilloma|keratosis Seborrheica|keratosis, seborrheic EFO:0005584|DOID:6498|UMLS:C0022603|NCIT:C9006|GARD:0003108|MESH:D017492|Wikipedia:Seborrheic_keratosis|ICD9:702.1|ICD10:L82.1|ICD10:L82|OMIM:182000 owl:Class CHEBI:32863 biolink:NamedThing secondary amine A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups. tmpak2llvmy_mondo_relaxed.owl secondary amines|sekundaeres Amin|R2NH|Secondary amine owl:Class CHEBI:32952 biolink:NamedThing amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpak2llvmy_mondo_relaxed.owl Substituted amine|Amine|amines|Amin owl:Class MONDO:0016453 biolink:NamedThing foodborne botulism Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. tmpak2llvmy_mondo_relaxed.owl intoxication botulism Orphanet:228371|NCIT:C128341|SCTID:398523009|DOID:0050352|UMLS:C1739094|ICD10:A05.1|ICD9:005.1 owl:Class MONDO:0010002 biolink:NamedThing Rothmund-Thomson syndrome Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. tmpak2llvmy_mondo_relaxed.owl poikiloderma of Rothmund-Thomson|congenital poikiloderma|poikiloderma congenitale|poikiloderma atrophicans and cataract|Rothmund-Thomson syndrome|RTS OMIMPS:268400|Orphanet:2909|ICD9:759.89|NCIT:C3335|MESH:D011038|GARD:0004392|UMLS:C0032339|SCTID:69093006|DOID:2732|ICD10:Q82.8 Editor note: check whether properties apply to both 1 and 2, or just type 2 owl:Class MONDO:0016382 biolink:NamedThing hereditary poikiloderma tmpak2llvmy_mondo_relaxed.owl Orphanet:222628 owl:Class FOODON:00001907 biolink:NamedThing gluten refined food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00002131 biolink:NamedThing plant based refined or partially-refined food product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021116 biolink:NamedThing luminal A breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. tmpak2llvmy_mondo_relaxed.owl Luminal A breast cancer|Luminal A subtype of breast carcinoma|Luminal A breast carcinoma|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A NCIT:C53554|UMLS:C3642345 owl:Class MONDO:0004990 biolink:NamedThing breast tumor luminal A or B Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. tmpak2llvmy_mondo_relaxed.owl luminal breast cancer|breast tumor luminal|luminal breast carcinoma DOID:0060548|EFO:0000306 owl:Class GO:0006390 biolink:NamedThing mitochondrial transcription The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. tmpak2llvmy_mondo_relaxed.owl transcription from mitochondrial promoter owl:Class GO:0000959 biolink:NamedThing mitochondrial RNA metabolic process The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006971 biolink:NamedThing sigmoid neoplasm Tumors or cancer of the sigmoid colon. tmpak2llvmy_mondo_relaxed.owl tumor of sigmoid colon|neoplasm of sigmoid colon|sigmoid colon neoplasm (disease)|sigmoid colon neoplasm|sigmoid colon tumor MedDRA:10026456|DOID:1896|SCTID:126845000|MESH:D012811|UMLS:C0037073|EFO:1001181|ICD9:153.3 Editor note: NCIT uses rectosigmoid as a region owl:Class MONDO:0001449 biolink:NamedThing lymphocytic choriomeningitis A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) tmpak2llvmy_mondo_relaxed.owl lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis|LCM|lymphocytic meningoencephalitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|lymphocytic meningitis DOID:12155|ICD10:A87.2|UMLS:C0024266|MESH:D008216|ICD9:049.0 owl:Class MONDO:0011035 biolink:NamedThing neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). tmpak2llvmy_mondo_relaxed.owl neurofibromatosis type 1-Noonan syndrome|NFNS|Noonan-neurofibromatosis syndrome|Noonan neurofibromatosis syndrome|neurofibromatosis-Noonan syndrome|neurofibromatosis with Noonan phenotype Orphanet:638|GARD:0000372|ICD10:Q87.1|MESH:C537393|SCTID:715344006|OMIM:601321|DOID:0111683 https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome owl:Class MONDO:0013955 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 30|immunodeficiency 30|MSMD due to complete interleukin 12 receptor beta 1 deficiency|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IL12RB1 deficiency|IMD30|IL-12Râ1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency ICD10:D84.8|OMIM:614891|Orphanet:319552|GARD:0010984|UMLS:C4013949 owl:Class GO:0060454 biolink:NamedThing positive regulation of gastric acid secretion Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004141 biolink:NamedThing melanomatosis tmpak2llvmy_mondo_relaxed.owl melanomatosis DOID:7206|UMLS:C1334691|NCIT:C9499 owl:Class CHEBI:33595 biolink:NamedThing cyclic compound Any molecule that consists of a series of atoms joined together to form a ring. tmpak2llvmy_mondo_relaxed.owl cyclic compounds owl:Class MONDO:0010972 biolink:NamedThing hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. tmpak2llvmy_mondo_relaxed.owl Waaler-Aarskog syndrome|Ferlini-Ragno-Calzolari syndrome|hydrocephalus, skeletal anomalies, and mental disturbance|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly OMIM:600991|MESH:C536461|ICD10:Q87.8|Orphanet:2180|SCTID:721229003|GARD:0005518 owl:Class MONDO:0016582 biolink:NamedThing congenital mitral malformation tmpak2llvmy_mondo_relaxed.owl GARD:0001495|Orphanet:2447 https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation owl:Class MONDO:0020288 biolink:NamedThing atrioventricular valve anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98720 owl:Class MONDO:0100433 biolink:NamedThing ACTB-associated syndromic thrombocytopenia A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. tmpak2llvmy_mondo_relaxed.owl ACTB-AST owl:Class MONDO:0018795 biolink:NamedThing syndromic constitutional thrombocytopenia tmpak2llvmy_mondo_relaxed.owl Orphanet:477794|UMLS:CN776900 owl:Class GO:0009112 biolink:NamedThing nucleobase metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. tmpak2llvmy_mondo_relaxed.owl nucleobase metabolism owl:Class UBERON:0003672 biolink:NamedThing dentition A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. tmpak2llvmy_mondo_relaxed.owl dentes|teeth|set of teeth|collection of teeth|teeth set owl:Class GO:0006928 biolink:NamedThing movement of cell or subcellular component The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. tmpak2llvmy_mondo_relaxed.owl cell movement|cellular component movement|cellular component motion owl:Class GO:1903036 biolink:NamedThing positive regulation of response to wounding Any process that activates or increases the frequency, rate or extent of response to wounding. tmpak2llvmy_mondo_relaxed.owl up regulation of response to wounding|up regulation of physiological response to wounding|up-regulation of physiological response to wounding|positive regulation of physiological response to wounding|up-regulation of response to wounding|upregulation of physiological response to wounding|activation of response to wounding|activation of physiological response to wounding|upregulation of response to wounding owl:Class GO:0106118 biolink:NamedThing regulation of sterol biosynthetic process Any process that modulates the frequency, rate or extent of a sterol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005937 biolink:NamedThing REM sleep behavior disorder A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) tmpak2llvmy_mondo_relaxed.owl rapid eye movement sleep behavior disorder ICD10:G47.52|MESH:D020187|DOID:9091|ICD9:780.59|ICD9:327.42|EFO:0007462|SCTID:415238003 owl:Class MONDO:0003406 biolink:NamedThing sleep-wake disorder Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. tmpak2llvmy_mondo_relaxed.owl disorders, sleep wake|phenotype, short sleep|Tachypneas, sleep-related neurogenic|Subwakefullness syndrome|short sleep phenotype|sleeper syndromes, short|disorders, sleep|sleep-related neurogenic tachypnea|syndromes, Subwakefullness|sleep phenotypes, short|syndrome, Subwakefullness|short sleep phenotypes|long sleeper syndrome|sleep-related neurogenic Tachypneas|disorder of sleep-wake schedule|sleeper syndrome, long|wake disorders, sleep|short sleeper syndromes|sleep disorder|long sleeper syndromes|syndromes, short sleeper|sleeper syndromes, long|syndromes, long sleeper|short sleeper syndrome|neurogenic tachypnea, sleep-related|phenotypes, short sleep|circadian dysregulation|disorder, sleep|disorder of sleep-wake cycle|neurogenic Tachypneas, sleep-related|sleep disorders|disturbed nyctohemeral rhythm|syndrome, short sleeper|tachypnea, sleep-related neurogenic|non-organic sleep disorder|disorder, sleep wake|sleeper syndrome, short|syndrome, long sleeper|sleep wake disorder|disorders of the sleep-wake schedule|sleep related neurogenic tachypnea|Subwakefullness syndromes|wake disorder, sleep EFO:0008568|DOID:535|SCTID:39898005|ICD10:G47|ICD9:307.40|ICD9:307.49|ICD9:307.4|MESH:D012893 owl:Class UBERON:0003521 biolink:NamedThing pes blood vessel A blood vessel that is part of a foot [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of foot|foot blood vessel owl:Class GO:0046326 biolink:NamedThing positive regulation of glucose import Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpak2llvmy_mondo_relaxed.owl up regulation of glucose import|activation of glucose import|up-regulation of glucose import|positive regulation of glucose uptake|stimulation of glucose import|upregulation of glucose import owl:Class GO:0046324 biolink:NamedThing regulation of glucose import Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpak2llvmy_mondo_relaxed.owl regulation of glucose uptake owl:Class MONDO:0011217 biolink:NamedThing desmosterolosis Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. tmpak2llvmy_mondo_relaxed.owl desmosterolosis UMLS:C1865596|ICD10:Q87.8|SCTID:709490002|ICD9:272.8|MESH:C566555|Orphanet:35107|OMIM:602398|GARD:0010283 https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis owl:Class MONDO:0019702 biolink:NamedThing neonatal osteosclerotic dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93443|SCTID:389236000|UMLS:C1300205 owl:Class UBERON:0006813 biolink:NamedThing nasal skeleton Structural framework that provides support to the nasal sacs and ducts. tmpak2llvmy_mondo_relaxed.owl skeleton of nose owl:Class UBERON:0036274 biolink:NamedThing tonsillar pillar The anterior and posterior borders of the tonsillar fossa. They are composed of muscle tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002385 biolink:NamedThing muscle tissue Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. tmpak2llvmy_mondo_relaxed.owl textus muscularis|muscular tissue|portion of muscle tissue owl:Class CHEBI:37838 biolink:NamedThing carboacyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. tmpak2llvmy_mondo_relaxed.owl carboxylic acyl group|carboxylic acyl groups|carboacyl groups owl:Class CHEBI:22221 biolink:NamedThing acyl group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. tmpak2llvmy_mondo_relaxed.owl alkanoyl|groupe acyle|alkanoyl group|acyl groups|acyl group owl:Class MONDO:0000975 biolink:NamedThing lipoma of spermatic cord A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. tmpak2llvmy_mondo_relaxed.owl spermatic cord lipoma|lipoma of spermatic cord|lipoma of the spermatic cord DOID:10206|UMLS:C0153972|NCIT:C3606|SCTID:93162007|ICD9:214.4 owl:Class MONDO:0000625 biolink:NamedThing benign male reproductive system neoplasm A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor. tmpak2llvmy_mondo_relaxed.owl benign Male reproductive system tumor|benign Male reproductive system neoplasm|male reproductive organ benign neoplasm NCIT:C4777|DOID:0060087|UMLS:C0947786 owl:Class HsapDv:0000128 biolink:NamedThing 34-year-old human stage Adult stage that refers to an adult who is over 34 and under 35. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014959 biolink:NamedThing mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant tmpak2llvmy_mondo_relaxed.owl MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A DOID:0080130|OMIM:617184|UMLS:C4310676 owl:Class MONDO:0018158 biolink:NamedThing mitochondrial DNA depletion syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. tmpak2llvmy_mondo_relaxed.owl mtDNA depletion syndrome MedDRA:10059396|Orphanet:35698|DOID:0070329|OMIMPS:603041|UMLS:CN239350|ICD10:G71.3 owl:Class MONDO:0015835 biolink:NamedThing Bicervical bicornuate uterus and blind hemivagina tmpak2llvmy_mondo_relaxed.owl Orphanet:180106|ICD10:Q51.1 owl:Class MONDO:0015834 biolink:NamedThing didelphys uterus tmpak2llvmy_mondo_relaxed.owl Bicervical bicornuate uterus Orphanet:180086|SCTID:15545001|MedDRA:10012770|ICD9:752.2|ICD10:Q51.1 owl:Class MONDO:0004539 biolink:NamedThing aortic malignant tumor A cancer that involves the aorta. tmpak2llvmy_mondo_relaxed.owl cancer of aorta|malignant neoplasm of the aorta|malignant tumor of the aorta|malignant aorta neoplasm|malignant aortic neoplasm|malignant neoplasm of aorta|aorta cancer|malignant tumor of aorta|aortic malignant neoplasm NCIT:C5375|DOID:8352|UMLS:C1334560 owl:Class GO:0007589 biolink:NamedThing body fluid secretion The controlled release of a fluid by a cell or tissue in an animal. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050878 biolink:NamedThing regulation of body fluid levels Any process that modulates the levels of body fluids. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015762 biolink:NamedThing progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. tmpak2llvmy_mondo_relaxed.owl PFIC|cholestasis, progressive familial intrahepatic Orphanet:172|ICD10:K76.8|UMLS:C0268312|OMIMPS:211600|DOID:0070221|NCIT:C84453 owl:Class MONDO:0017755 biolink:NamedThing inborn disorder of bilirubin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl disorder of bilirubin metabolism|bilirubin metabolism disorder|hereditary bilirubin metabolism disease|disorder of bilirubin metabolism and excretion|inborn disorder of bilirubin metabolism and excretion Orphanet:309816|UMLS:CN227200 owl:Class UBERON:0003631 biolink:NamedThing pedal digit 1 1st digit of the hind autopod. tmpak2llvmy_mondo_relaxed.owl pedal digit 1|hind digit I|big toe|hallex|preaxial digit of hindlimb|hallux|first toe|digit 1 of hind-paw|hindlimb dewclaw|hallux; digitus primus [I]|great toe|toe 1|pedal digit I|pes digit I|digitus primus (I) pedis|hind limb digit 1|foot digit 1|digitus primus pedis|hind digit 1|large toe|digit 1 of pes owl:Class UBERON:0006048 biolink:NamedThing digit 1 A digit that is part of a digit 1 plus metapodial segment. tmpak2llvmy_mondo_relaxed.owl digit I|limb digit 1|autopod digit 1|dewclaw owl:Class MONDO:0008492 biolink:NamedThing stiff skin syndrome Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. tmpak2llvmy_mondo_relaxed.owl stiff skin syndrome|SSKS|STIFF skin syndrome Orphanet:2833|MESH:C566112|SCTID:765187004|ICD10:L98.8|DOID:0111561|GARD:0005025|NCIT:C118636|UMLS:C1861456|OMIM:184900 https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome owl:Class MONDO:0030300 biolink:NamedThing cardiomyopathy, dilated, 2D tmpak2llvmy_mondo_relaxed.owl CMD2D|cardiomyopathy, dilated, 2D OMIM:619371 owl:Class UBERON:0005690 biolink:NamedThing 3rd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 3. tmpak2llvmy_mondo_relaxed.owl 3rd pharyngeal arch mesenchyme|3rd branchial arch mesenchyme|pharyngeal arch 3 mesenchyme owl:Class UBERON:0009494 biolink:NamedThing pharyngeal arch mesenchymal region A portion of mesenchymal tissue associated with an individual pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl pharyngeal arch mesenchyme|branchial arch mesenchyme owl:Class MONDO:0001909 biolink:NamedThing renal tubular acidosis A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. tmpak2llvmy_mondo_relaxed.owl SCTID:1776003|DOID:14219|UMLS:C0001126|MESH:D000141|ICD10:N25.89|GARD:0007552|ICD9:588.89 https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis owl:Class MONDO:0002109 biolink:NamedThing pituitary cancer A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the pituitary gland|malignant pituitary gland tumor|malignant pituitary neoplasm|malignant tumor of the pituitary gland|malignant tumor of the pituitary|malignant neoplasm of pituitary gland|malignant neoplasm of pituitary|pituitary neoplasm|pituitary gland cancer|malignant pituitary tumor|pituitary gland neoplasm|pituitary neoplasms, malignant|malignant neoplasm of the pituitary|cancer of pituitary gland|pituitary tumor, malignant|malignant tumor of pituitary gland|malignant tumor of pituitary|pituitary cancer|malignant pituitary gland neoplasm ICD10:C75.1|DOID:1785|GARD:0009371|NCIT:C4769|UMLS:C0496842|SCTID:363482009|EFO:0005578 owl:Class MONDO:0003766 biolink:NamedThing thalamic cancer A cancer involving a dorsal plus ventral thalamus. tmpak2llvmy_mondo_relaxed.owl malignant thalamus tumors|malignant neoplasm of dorsal plus ventral thalamus|malignant thalamus neoplasms|dorsal plus ventral thalamus cancer|malignant thalamic neoplasms|malignant neoplasm of the thalamus|malignant tumor of thalamus|cancer of dorsal plus ventral thalamus|malignant thalamic tumor|malignant dorsal plus ventral thalamus neoplasm|malignant tumor of the thalamus|malignant thalamic neoplasm|thalamic neoplasm|malignant neoplasm of thalamus|malignant thalamus neoplasm|malignant thalamus tumor|tumor of thalamus|malignant thalamic tumors SCTID:188287005|NCIT:C4576|UMLS:C0346902|DOID:6098 owl:Class HP:0002072 biolink:NamedThing Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. tmpak2llvmy_mondo_relaxed.owl Choreiform movements|Choreatic disease|Choreic movements UMLS:C0008489|MSH:D002819|UMLS:C4020858|SNOMEDCT_US:271700006 HP:0002397 human_phenotype owl:Class MONDO:0006356 biolink:NamedThing parotid gland adenoid cystic carcinoma An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpak2llvmy_mondo_relaxed.owl parotid gland adenoid cystic carcinoma|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of parotid|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid gland|adenoid cystic carcinoma of the parotid gland SCTID:423615009|NCIT:C5937|DOID:0050931|UMLS:C1335355|EFO:1000459 owl:Class MONDO:0004971 biolink:NamedThing adenoid cystic carcinoma A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. tmpak2llvmy_mondo_relaxed.owl cylindroma|cribriform carcinoma|cylindroid adenocarcinoma|adenoid cystic cancer|adenocystic carcinoma|adenoid cystic carcinoma ONCOTREE:ACYC|GARD:0005743|EFO:0000231|NCIT:C2970|DOID:0080202|MESH:D003528|ICDO:8200/3|UMLS:C0010606 owl:Class CL:0000548 biolink:NamedThing animal cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0003826 biolink:NamedThing upper leg bone A bone that is part of a hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl femur owl:Class UBERON:0005893 biolink:NamedThing leg bone A bone that is part of the region of the hindlimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. Counter-examples: any pes phalanx tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017335 biolink:NamedThing microtriplication 11q24.1 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. tmpak2llvmy_mondo_relaxed.owl tetrasomy 11q24.1 Orphanet:289522|ICD10:Q99.8 owl:Class MONDO:0017217 biolink:NamedThing visceral calciphylaxis Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. tmpak2llvmy_mondo_relaxed.owl Orphanet:280068|ICD10:E83.5 owl:Class MONDO:0017215 biolink:NamedThing calciphylaxis Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. tmpak2llvmy_mondo_relaxed.owl idiopathic calciphylaxis UMLS:C0006666|DOID:4734|ICD10:E83.5|MESH:D002115|Orphanet:280062|GARD:0005980|ICD9:275.49|SCTID:237900002|MedDRA:10051714|NCIT:C84607 https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis owl:Class MONDO:0013721 biolink:NamedThing complement component 4a deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. tmpak2llvmy_mondo_relaxed.owl complement component 4a deficiency|C4AD|classic complement early component deficiency caused by mutation in C4A|complement component 4A deficiency|C4A classic complement early component deficiency|C4A deficiency OMIM:614380|UMLS:C3280642|ICD10:D84.1|MESH:C565167|DOID:0060297 owl:Class MONDO:0015699 biolink:NamedThing immunodeficiency due to a classical component pathway complement deficiency tmpak2llvmy_mondo_relaxed.owl immunodeficiency due to an early component of complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency|immunodeficiency due to a C1, C4, or C2 component complement deficiency ICD10:D84.1|Orphanet:169147 owl:Class MONDO:0021032 biolink:NamedThing herpes zoster with dermatitis of eyelid A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl Herpes zoster dermatitis of eyelids|Herpes Zoster Dermatitis of Eyelid|Herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelids|herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelid ICD9:053.20|UMLS:C0019362|SCTID:186525007|NCIT:C34696 owl:Class MONDO:0021479 biolink:NamedThing benign neoplasm of oropharynx A benign neoplasm that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the oropharynx|benign tumor of the oropharynx|benign oropharyngeal tumor|benign tumor of oropharynx|oropharyngeal neoplasm benign|benign oropharyngeal neoplasm|oropharynx benign neoplasm NCIT:C4604|ICD9:210.6|SCTID:92259008|UMLS:C0347229 owl:Class MONDO:0021523 biolink:NamedThing benign neoplasm of pharynx A benign neoplasm that involves the pharynx. tmpak2llvmy_mondo_relaxed.owl benign pharynx neoplasm|pharyngeal neoplasm benign|benign pharyngeal tumor|benign tumor of the pharynx|benign tumor of pharynx|benign pharyngeal neoplasm|benign pharynx tumor|pharynx benign neoplasm|benign neoplasm of the pharynx UMLS:C0153940|SCTID:92293007|ICD9:210.9|NCIT:C3597 owl:Class MONDO:0000521 biolink:NamedThing salivary gland carcinoma A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. tmpak2llvmy_mondo_relaxed.owl salivary gland cancer|carcinoma of salivary gland|salivary carcinoma|carcinoma of the salivary gland|carcinoma of saliva-secreting gland|saliva-secreting gland carcinoma|salivary gland carcinoma UMLS:C0948750|NCIT:C9272|ONCOTREE:SACA|DOID:0050904 owl:Class MONDO:0044925 biolink:NamedThing oral cavity carcinoma A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl mouth carcinoma|carcinoma of mouth|carcinoma of the oral cavity|oral cavity cancer|carcinoma of oral cavity|oral cavity carcinoma NCIT:C8990|UMLS:C0151546 owl:Class UBERON:0010031 biolink:NamedThing 6th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 6. tmpak2llvmy_mondo_relaxed.owl 6th pharyngeal arch mesenchyme|6th branchial arch mesenchyme|pharyngeal arch 6 mesenchyme owl:Class UBERON:0001170 biolink:NamedThing mesentery of small intestine The peritoneum responsible for connecting the jejunum and ileum (parts of the small intestine) to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pain[WP]. tmpak2llvmy_mondo_relaxed.owl mesentery proper|mesentery (proper)|small intestinal mesentery|small intestine mesentery owl:Class UBERON:0002095 biolink:NamedThing mesentery Anatomical organ component composed of a double layer of serous membrane that suspends a viscus from the body wall or connects adjacent viscera and in doing so conveys blood vessels, lymphatics and nerves to and from the viscera. Examples: greater omentum, broad ligament of uterus, sigmoid mesocolon. tmpak2llvmy_mondo_relaxed.owl mesentery (generic)|generic mesentery owl:Class UBERON:0006846 biolink:NamedThing surface groove A furrow or an incomplete tube. tmpak2llvmy_mondo_relaxed.owl groove owl:Class MONDO:0007986 biolink:NamedThing metatropic dysplasia Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. tmpak2llvmy_mondo_relaxed.owl metatropic dysplasia|Metatropic dysplasia, nonlethal dominant|Metatropic dwarfism OMIM:156530|MESH:C537356|GARD:0003571|Orphanet:2635|ICD10:Q77.8|SCTID:22764001|DOID:0111514 https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia owl:Class MONDO:0024643 biolink:NamedThing myocardial disorder A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl disease or disorder of myocardium|disorder of heart muscle|myocardial disease|myocardial disorder|myocardium disease|disease of myocardium|disorder of myocardium|myocardium disease or disorder SCTID:57809008|NCIT:C35544 owl:Class HP:0000822 biolink:NamedThing Hypertension The presence of chronic increased pressure in the systemic arterial system. tmpak2llvmy_mondo_relaxed.owl Systemic hypertension|High blood pressure|Arterial hypertension UMLS:C0020538|MSH:D006973|SNOMEDCT_US:38341003|UMLS:C0497247|SNOMEDCT_US:24184005 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. HP:0004949|HP:0005126 human_phenotype owl:Class HP:0032263 biolink:NamedThing Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. tmpak2llvmy_mondo_relaxed.owl Increased BP 2019-01-27 20:07:59+00:00 peter human_phenotype owl:Class MONDO:0014475 biolink:NamedThing spinocerebellar ataxia type 40 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 40|spinocerebellar ataxia 40|SCA40 Orphanet:423275|ICD10:G11.8|DOID:0050986|EFO:0009057|GARD:0012371|UMLS:C4518336|UMLS:CN219009|OMIM:616053|SCTID:734020000|UMLS:CN237494 owl:Class MONDO:0013134 biolink:NamedThing glaucoma 1, open angle, O Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. tmpak2llvmy_mondo_relaxed.owl glaucoma 1, open angle, type O|GLC1O|glaucoma 1, open angle, O|open-angle glaucoma caused by mutation in NTF4|NTF4 open-angle glaucoma MESH:C567753|UMLS:C2751294|OMIM:613100 owl:Class MONDO:0005338 biolink:NamedThing open-angle glaucoma Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. tmpak2llvmy_mondo_relaxed.owl glaucoma simplex|wide-angle glaucoma|pigmentary glaucoma|open angle glaucoma ICD9:365.10|SCTID:84494001|NCIT:C34641|ICD9:365.1|ICD10:H40.10|DOID:1067|ICD10:H40.13|ICD9:365.13|MESH:D005902|ICD10:H40.1|SCTID:46168003|EFO:0004190|UMLS:C0017612 owl:Class MONDO:0025193 biolink:NamedThing oculopharyngodistal myopathy Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. tmpak2llvmy_mondo_relaxed.owl OPDM|oculopharyngodistal myopathy|oculopharyngeal distal myopathy|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement ICD10:G71.0|Orphanet:98897|SCTID:763829004|GARD:0012592|UMLS:C1834014|OMIMPS:164310|MESH:C563508 https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy owl:Class MONDO:0018949 biolink:NamedThing distal myopathy Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. tmpak2llvmy_mondo_relaxed.owl Miyoshi muscular dystrophy|distal myopathy|distal muscular dystrophy SCTID:58795000|NCIT:C84675|UMLS:C0751336|ICD10:G71.0|Orphanet:599|DOID:11720 owl:Class GO:0044089 biolink:NamedThing positive regulation of cellular component biogenesis Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002524 biolink:NamedThing hypersensitivity An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpak2llvmy_mondo_relaxed.owl hypersensitivity response owl:Class MONDO:0013018 biolink:NamedThing keratosis follicularis spinulosa decalvans, autosomal dominant tmpak2llvmy_mondo_relaxed.owl keratosis follicularis spinulosa decalvans, autosomal dominant|KFSD|keratosis follicularis SPINULOSA decalvans, autosomal dominant UMLS:C2748527|MESH:C567553|OMIM:612843 owl:Class MONDO:0000136 biolink:NamedThing keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. tmpak2llvmy_mondo_relaxed.owl keratosis pilaris decalvans SCTID:238626006|Orphanet:2340|GARD:0006829|ICD9:757.39|ICD10:Q82.8 owl:Class MONDO:0008915 biolink:NamedThing dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, with premature ovarian failure|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiomyopathy, dilated, with hypergonadotropic hypogonadism|cardiomyopathy with primary testicular failure|dilated cardiomyopathy with hypergonadotropic hypogonadism|genital anomaly with cardiomyopathy|Najjar syndrome|Malouf syndrome|cardiogenital syndrome UMLS:C0796031|DOID:0111584|Orphanet:2229|OMIM:212112|SCTID:719451006|ICD10:Q87.8|GARD:0003373|UMLS:C0796083 owl:Class MONDO:0019528 biolink:NamedThing IgG4-related hepatopathy Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion. tmpak2llvmy_mondo_relaxed.owl inflammatory pseudotumor of the liver ICD10:K75.8|Orphanet:90003 owl:Class MONDO:0017287 biolink:NamedThing IgG4-related disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. tmpak2llvmy_mondo_relaxed.owl IgG4-RD|Immunoglobulin G4-related sclerosing disease|multifocal idiopathic fibrosclerosis|IgG4-related sclerosing disease|IgG4-associated disease|multifocal fibrosclerosis|IgG4-related systemic disease|IgG4-positive multiorgan lymphoproliferative syndrome|systemic IgG4-related sclerosing syndrome|systemic IgG4-related plasmacytic syndrome|IgG4-syndrome|hyper-IgG4 disease|IgG4-related autoimmune disease|IgG4-related systemic sclerosing disease GARD:0012521|Orphanet:284264|NCIT:C95992|UMLS:C3203653|Orphanet:596448|DOID:0080356|MedDRA:10071569 https://github.com/monarch-initiative/mondo/issues/3539 owl:Class MONDO:0003279 biolink:NamedThing testicular infarct Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. tmpak2llvmy_mondo_relaxed.owl testicular infarction|infarction of testis NCIT:C27617|DOID:5104|UMLS:C0392041|SCTID:33793000 owl:Class MONDO:0000503 biolink:NamedThing lung adenocarcinoma in situ A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. tmpak2llvmy_mondo_relaxed.owl bronchioalveolar carcinoma|adenosquamous cell carcinoma in situ of lung|lung adenosquamous cell carcinoma in situ|in situ pulmonary adenocarcinoma|adenosquamous cell carcinoma in situ of the lung|bronchioloalveolar carcinoma|stage 0 adenosquamous cell carcinoma of lung|stage 0 adenosquamous cell lung carcinoma|lung adenocarcinoma In situ|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v6|stage 0 adenosquamous lung cancer|stage 0 adenosquamous cell carcinoma of the lung ONCOTREE:LAIS|NCIT:C136486|NCIT:C8748|UMLS:C0854971|DOID:0050870 Editor note: check why NCIT has two classes owl:Class MONDO:0004660 biolink:NamedThing lung carcinoma in situ A carcinoma in situ involving a lung. tmpak2llvmy_mondo_relaxed.owl stage 0 lung cancer aJCC v6|stage 0 lung cancer aJCC v6 and v7|stage 0 lung cancer aJCC v7|stage 0 lung cancer|bronchial carcinoma in situ|stage 0 lung carcinoma|carcinoma in situ of lung|lung in situ carcinoma ICD9:231.2|NCIT:C27467|UMLS:C0685053|ICD10:D02.2|DOID:8800|SCTID:92649001 owl:Class MONDO:0005037 biolink:NamedThing gastric intestinal type adenocarcinoma An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. tmpak2llvmy_mondo_relaxed.owl intestinal gastric adenocarcinoma|intestinal adenocarcinoma of the stomach|intestinal stomach adenocarcinoma|intestinal type stomach adenocarcinoma|gastric intestinal type adenocarcinoma|intestinal adenocarcinoma of stomach|gastric intestinal-type adenocarcinoma EFO:0000504|ONCOTREE:ISTAD|UMLS:C0279633|NCIT:C9157 owl:Class MONDO:0006254 biolink:NamedThing intestinal type adenocarcinoma An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl intestinal type carcinoma|intestinal-type adenocarcinoma ICDO:8144/3|EFO:1000304|UMLS:C0334279|NCIT:C4126 owl:Class MONDO:0019368 biolink:NamedThing florid cemento-osseous dysplasia Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. tmpak2llvmy_mondo_relaxed.owl florid osseous dysplasia|Gigantiform cementoma|focal cemento-osseous dysplasia ICDO:9275/0|SCTID:715634002|Orphanet:83451|NCIT:C8381|UMLS:C0555197|MESH:C537063|ICD10:D16.5|GARD:0010173|ICD10:D16.4 https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia owl:Class MONDO:0007313 biolink:NamedThing cheilitis glandularis Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. tmpak2llvmy_mondo_relaxed.owl cheilitis glandularis MESH:C535921|GARD:0000412|SCTID:26374003|Orphanet:1221|ICD10:K13.0|UMLS:C0267034|OMIM:118330 https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis owl:Class GO:1990497 biolink:NamedThing regulation of cytoplasmic translation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043555 biolink:NamedThing regulation of translation in response to stress Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl translational stress response owl:Class MONDO:0011829 biolink:NamedThing coenzyme Q10 deficiency, primary, 1 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. tmpak2llvmy_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 1|COQ10D1|COQ2 coenzyme Q10 deficiency|CoQ deficiency 1|coenzyme Q10 deficiency, primary, type 1|coenzyme Q deficiency 1|Coq10 deficiency, primary, 1|ubiquinone deficiency 1|coenzyme Q10 deficiency caused by mutation in COQ2 UMLS:C3551954|DOID:0070238|OMIM:607426 owl:Class MONDO:0016816 biolink:NamedThing Leigh syndrome with nephrotic syndrome tmpak2llvmy_mondo_relaxed.owl Leigh disease with nephrotic syndrome|infantile subacute necrotizing encephalopathy with nephrotic syndrome ICD10:G31.8|Orphanet:255249|UMLS:CN202084 owl:Class GO:0031329 biolink:NamedThing regulation of cellular catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl regulation of cellular catabolism|regulation of cellular breakdown|regulation of cellular degradation owl:Class GO:0031323 biolink:NamedThing regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpak2llvmy_mondo_relaxed.owl regulation of cellular metabolism owl:Class MONDO:0012886 biolink:NamedThing inflammatory bowel disease 22 An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 22|IBD22|inflammatory bowel disease 22 MESH:C567327|DOID:0110905|OMIM:612380|UMLS:C2676485 owl:Class MONDO:0005265 biolink:NamedThing inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease|IBD|autoimmune bowel disorder UMLS:C0021390|MESH:D015212|EFO:0003767|NCIT:C3138|SCTID:24526004|DOID:0050589|KEGG:05321|OMIMPS:266600|ICD9:558.9 owl:Class MONDO:0013389 biolink:NamedThing developmental and epileptic encephalopathy, 12 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. tmpak2llvmy_mondo_relaxed.owl DEE12|early infantile epileptic encephalopathy caused by mutation in PLCB1|developmental and epileptic encephalopathy, 12|EIEE12|early infantile epileptic encephalopathy 12|epileptic encephalopathy, early infantile, type 12|epileptic encephalopathy, early infantile, 12|PLCB1 early infantile epileptic encephalopathy OMIM:613722|GARD:0013318|UMLS:C3150988|DOID:0080459 https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 owl:Class CL:0002119 biolink:NamedThing CD38-positive IgG-negative class switched memory B cell A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002117 biolink:NamedThing IgG-negative class switched memory B cell A class switched memory B cell that lacks IgG on the cell surface. tmpak2llvmy_mondo_relaxed.owl IgG-negative class switched memory B-cell|IgG-negative class switched memory B-lymphocyte|IgG-negative class switched memory B lymphocyte|IgG- class switched memory B cell|IgG- class switched memory B lymphocyte|IgG- class switched memory B-lymphocyte|IgG- class switched memory B-cell cell owl:Class GO:0000976 biolink:NamedThing transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. tmpak2llvmy_mondo_relaxed.owl transcription regulatory region DNA binding|transcription regulatory region sequence-specific DNA binding|regulatory region DNA binding owl:Class MONDO:0014825 biolink:NamedThing chromosome 11p13 deletion syndrome, distal tmpak2llvmy_mondo_relaxed.owl UMLS:C4311047|OMIM:616902 owl:Class MONDO:0020529 biolink:NamedThing ACTH-independent Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). tmpak2llvmy_mondo_relaxed.owl corticotropin-independent Cushing syndrome|adrenal Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome UMLS:CN207429|ICD10:E24.8|Orphanet:99893 owl:Class MONDO:0017376 biolink:NamedThing reactive arthritis Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. tmpak2llvmy_mondo_relaxed.owl reactive arthritis|venereal arthritis|polyarthritis enterica|post-bacterial arthropathy|Fiessinger-Leroy disease|post-infectious reactive arthropathy|Reiter's disease|Reiter's syndrome|arthritis urethritica|post-infectious arthritis|PIRA|Fiessinger-Leroy-Reiter syndrome|postdysenteric arthropathy|Fiessinger Leroy Reiter syndrome|Reiter disease|Reiter syndrome MedDRA:10003267|ICD9:099.3|ICD9:711.30|GARD:0005693|MedDRA:10038294|DOID:6196|UMLS:C0035012|NCIT:C128332|UMLS:CN203069|MESH:D016918|Orphanet:29207|UMLS:C0085435|ICD10:M02.30|ICD10:M02.8|ICD10:M02.1|ICD9:711.3|ICD10:M02.10|EFO:0007460|ICD10:M02.3|ICD9:711.40|SCTID:129133005 https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis owl:Class MONDO:0005554 biolink:NamedThing rheumatic disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. tmpak2llvmy_mondo_relaxed.owl collagen disease|collagen vascular disease|diseases, rheumatic|connective tissue disease|inflammatory rheumatism|enthesopathy|disease, rheumatic|rheumatic disease|enthesopathies|rheumatism|rheumatologic disorder|musculoskeletal pain disorder MESH:D012216|SCTID:396332003|NCIT:C27204|Wikipedia:Rheumatism|DOID:1575|ICD9:729.0|EFO:0005755|UMLS:C0035435 This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue owl:Class MONDO:0032669 biolink:NamedThing Diamond-Blackfan anemia 19 tmpak2llvmy_mondo_relaxed.owl DIAMOND-BLACKFAN ANEMIA 19|DBA19 OMIM:618312 owl:Class MONDO:0027026 biolink:NamedThing Buschke Lowenstein tumor A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. tmpak2llvmy_mondo_relaxed.owl tumor, Buschke Lowenstein|condyloma Acuminatum, Giant|tumor, Buschke-Lowenstein|Buschke Lowenstein tumor|giant condyloma of Buschke and Lowenstein|anogenital type verrucous carcinoma|Lowenstein tumor, Buschke|Giant condyloma Acuminatums|condyloma Acuminatums, Giant|Giant condyloma Acuminatum|GCBL|Giant condyloma of Buschke and Lowenstein|Buschke-Lowenstein tumor|giant condyloma acuminatum involving the prepuce and glans penis UMLS:C0276264|MESH:D062688|SCTID:402910001|NCIT:C6371|GARD:0009663 owl:Class MONDO:0005647 biolink:NamedThing anogenital human papillomavirus infection A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. tmpak2llvmy_mondo_relaxed.owl anogenital Human papilloma Virus infection|anogenital Human Papillomavirus infection|anogenital venereal wart|genital Warts|condyloma acuminatum|genital wart virus infectious disease|venereal wart|anogenital Warts|anogenital Human papilloma Virus infectious disease DOID:11168|SCTID:266113007|ICD10:A63.0|EFO:0007147|NCIT:C4820|MESH:D003218|ICD9:078.11 owl:Class HGNC:6860 biolink:NamedThing MAP3K8 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045938 biolink:NamedThing positive regulation of circadian sleep/wake cycle, sleep Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpak2llvmy_mondo_relaxed.owl up regulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|up-regulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|activation of circadian sleep/wake cycle, sleep owl:Class MONDO:0009514 biolink:NamedThing Laurence-Moon syndrome Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. tmpak2llvmy_mondo_relaxed.owl Laurence-Moon-Biedl syndrome|Laurence-Moon syndrome|LNMS|Laurence-MOON syndrome ICD9:253.4|MedDRA:10056710|GARD:0012635|SCTID:232059000|MESH:D007849|DOID:1930|ICD10:Q87.8|UMLS:C0023138|OMIM:245800|NCIT:C34760|Orphanet:2377 https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome owl:Class MONDO:0007639 biolink:NamedThing fundus albipunctatus Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. tmpak2llvmy_mondo_relaxed.owl fundus albipunctatus|pigmentary retinal dystrophy|retinitis punctata albescens ICD9:362.74|ICD10:H35.52|MESH:C562733|Orphanet:227796|ICD9:362.76|OMIM:136880|DOID:11105|SCTID:68222009|ICD10:H35.5 owl:Class MONDO:0100443 biolink:NamedThing RDH5 retinopathy A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina. tmpak2llvmy_mondo_relaxed.owl retinitis punctata albescens|fundus albipunctatus|RDH5 retinopathy|pigmentary retinal dystrophy owl:Class MONDO:0002657 biolink:NamedThing breast disease A disease involving the breast. tmpak2llvmy_mondo_relaxed.owl disorder of breast|disease of breast|breast disease or disorder|disease or disorder of breast|breast diseases|breast disorder|breast disease ICD9:610-612.99|ICD9:611.8|ICD10:N64.9|UMLS:C0006145|ICD9:611.9|MESH:D001941|ICD10:N60-N65|DOID:3463|SCTID:79604008|NCIT:C26709 owl:Class MONDO:0009744 biolink:NamedThing neuronal ceroid lipofuscinosis 1 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpak2llvmy_mondo_relaxed.owl ceroid lipofuscinosis neuronal 1|classic late infantile CLN (type of CLN1)|Santavuori-Haltia disease|CLN1|juvenile CLN (type of CLN1)|neuronal ceroid lipofuscinosis caused by mutation in PPT1|ceroid lipofuscinosis, neuronal, type 1|adult CLN (type of CLN1)|neuronal ceroid lipofuscinosis 1 variable age of onset|CLN1 variable age at onset|CLN1 disease|ceroid lipofuscinosis, neuronal, 1|neuronal ceroid lipofuscinosis, infantile|infantile CLN (type of CLN1)|infantile neuronal ceroid lipofuscinosis|Santavuori disease|neuronal ceroid lipofuscinosis type 1|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|neuronal ceroid lipofuscinosis 1 Orphanet:228329|ICD10:E75.4|GARD:0001219|OMIM:256730|DOID:0110721|NCIT:C85861 https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 owl:Class MONDO:0019262 biolink:NamedThing juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. tmpak2llvmy_mondo_relaxed.owl juvenile NCL|JNCL|juvenile neuronal ceroid lipofuscinosis|batten disease|Spielmeyer-Vogt disease ICD10:E75.4|DOID:0050756|SCTID:61663001|MedDRA:10052073|Orphanet:79264 Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs owl:Class MONDO:0001531 biolink:NamedThing blood coagulation disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. tmpak2llvmy_mondo_relaxed.owl postpartum coagulation defect with delivery|coagulation disorders, blood|blood coagulation disorder|coagulation disorder, blood|coagulopathy|disorders, blood coagulation|disorder, blood coagulation|postpartum coagulation defect|coagulation defect|coagulation disorder DOID:1247|ICD10:D68.9|ICD9:287.8|MESH:D001778|ICD9:286|NCIT:C2902|SCTID:64779008|ICD9:286.9 owl:Class UBERON:0010020 biolink:NamedThing tubotympanic recess epithelium The dorsal portion of the embryonic first endodermal pharyngeal pouch; it develops into the middle ear cavity. tmpak2llvmy_mondo_relaxed.owl tubotympanic recess owl:Class UBERON:0015813 biolink:NamedThing middle ear epithelium A epithelium that is part of a middle ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024473 biolink:NamedThing Astrakhan spotted fever An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia. tmpak2llvmy_mondo_relaxed.owl DOID:0050041 owl:Class MONDO:0005677 biolink:NamedThing Rickettsia conorii infectious disease tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0047453 biolink:NamedThing ATP-dependent NAD(P)H-hydrate dehydratase activity Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate. tmpak2llvmy_mondo_relaxed.owl (6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase(ATP-hydrolysing; NADH-forming)|reduced nicotinamide adenine dinucleotide hydrate dehydratase activity|ATP-dependent H4NAD(P)OH dehydratase activity|ATP-dependent H(4)NAD(P)OH dehydratase activity|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase (ATP-hydrolysing) owl:Class CL:1001595 biolink:NamedThing rectum glandular cell Glandular cell of rectal epithelium. Example: Goblet cell; enterocytes or absorptive cells; enteroendocrine and M cells. tmpak2llvmy_mondo_relaxed.owl rectum glandular cells|rectal glandular cell CALOHA:TS-1281 owl:Class CL:0002658 biolink:NamedThing glandular cell of the large intestine A glandular epithelial cell of the large intestine. tmpak2llvmy_mondo_relaxed.owl FMA:87194 tmeehan 2011-07-08T04:03:01Z cell owl:Class CHEBI:35481 biolink:NamedThing non-narcotic analgesic A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002481 biolink:NamedThing peritubular myoid cell The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-12-03T03:11:48Z cell owl:Class CL:0000185 biolink:NamedThing myoepithelial cell Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. tmpak2llvmy_mondo_relaxed.owl basket epithelial cell|myoepitheliocyte CALOHA:TS-2379|BTO:0002309|FMA:67799 cell owl:Class GO:1903353 biolink:NamedThing regulation of nucleus organization Any process that modulates the frequency, rate or extent of nucleus organization. tmpak2llvmy_mondo_relaxed.owl regulation of nuclear organization and biogenesis|regulation of nuclear organisation|regulation of nucleus organization and biogenesis|regulation of nuclear organization|regulation of nuclear morphology owl:Class MONDO:0015573 biolink:NamedThing subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. tmpak2llvmy_mondo_relaxed.owl ICD10:L93.1|UMLS:C0024140|Orphanet:163525|SCTID:239891002|MedDRA:10057903|NCIT:C117111 owl:Class MONDO:0005282 biolink:NamedThing cutaneous lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. tmpak2llvmy_mondo_relaxed.owl lupus erythematosus, cutaneous NCIT:C26819|UMLS:C0024137|MESH:D008178|SCTID:7119001|GARD:0006225|DOID:0050169|EFO:0003834 https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus owl:Class UBERON:0035322 biolink:NamedThing right common iliac artery tmpak2llvmy_mondo_relaxed.owl trunk of right common iliac arterial tree owl:Class UBERON:0001191 biolink:NamedThing common iliac artery The common iliac arteries are two large arteries, about 4cm long in adults but more than a centimetre in diameter, that originate from the aortic bifurcation. The arteries run inferolaterally, along the medial border of the psoas muscles to the pelvic brim, where they bifurcate into the external iliac artery and internal iliac artery. The common iliac artery, and all of its branches, exist as paired structures (that is to say, there is one on the left side and one on the right). The distribution of the common iliac artery is basically the pelvis and lower limb on the corresponding side. Both common iliac arteries are accompanied along their course by common iliac veins. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria iliaca communis|common iliac arterial tree owl:Class MONDO:0010613 biolink:NamedThing inborn glycerol kinase deficiency An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity. tmpak2llvmy_mondo_relaxed.owl inborn glycerol kinase activity disorder|hyperglycerolemia|rare inborn error of glycerol kinase activity|inborn error of glycerol kinase activity|glycerol kinase deficiency|GK1 deficiency|GK deficiency|GKD SCTID:124322002|OMIM:307030|DOID:0060363|Orphanet:308993 owl:Class MONDO:0019227 biolink:NamedThing inborn disorder of glycerol metabolism An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of glycerol metabolic process|inborn error of glycerol metabolic process|inborn glycerol metabolic process disorder|disorder of glycerol metabolism Orphanet:79179 owl:Class MONDO:0004474 biolink:NamedThing gallbladder lymphoma A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. tmpak2llvmy_mondo_relaxed.owl primary gallbladder lymphoma|lymphoma of gall bladder|lymphoma of the gallbladder|gall bladder lymphoma|gallbladder lymphoma|lymphoma of gallbladder NCIT:C5734|DOID:8135|UMLS:C1333748 owl:Class MONDO:0005411 biolink:NamedThing gallbladder cancer A malignant neoplasm involving the gall bladder tmpak2llvmy_mondo_relaxed.owl gallbladder Ca|malignant tumour of gallbladder|malignant tumor of gallbladder|malignant neoplasm of the gallbladder|malignant neoplasm of gallbladder|gall bladder cancer|localized malignant gallbladder neoplasm|malignant gallbladder tumor|tumor of the gallbladder|malignant tumor of the gallbladder|malignant gallbladder neoplasm|malignant gall bladder neoplasm|gallbladder neoplasm|malignant neoplasm of gall bladder|cancer of gall bladder ICD9:156.0|NCIT:C7481|DOID:3121|ONCOTREE:GBC|ICD9:156.8|GARD:0009328|ICD10:C23|UMLS:C0153452|SCTID:363353009|EFO:0004606 owl:Class MONDO:0041295 biolink:NamedThing acute papillary necrosis Acute form of kidney papillary necrosis. tmpak2llvmy_mondo_relaxed.owl acute papillary necrosis|kidney papillary necrosis, acute|acute renal medullary necrosis|acute kidney papillary necrosis|acute necrotizing papillitis SCTID:270494003 owl:Class MONDO:0006821 biolink:NamedThing kidney papillary necrosis A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. tmpak2llvmy_mondo_relaxed.owl renal papillitis necrotizing|necrotizing renal papillitis|papillary necrosis DOID:2981|MESH:D007681|SCTID:90241004|ICD9:583.7|UMLS:C0022667|EFO:1001004|MedDRA:10028865 owl:Class HP:0011107 biolink:NamedThing Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpak2llvmy_mondo_relaxed.owl Buccal aphthous ulcers|Aphthous stomatitis|Recurrent aphthous ulcers|Recurrent oral aphthae|Recurrent canker sores SNOMEDCT_US:426965005|UMLS:C0038363|SNOMEDCT_US:398870000|SNOMEDCT_US:427617000|SNOMEDCT_US:110426005|MSH:D013281|UMLS:C2937365 Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. peter 2011-06-08T07:11:09Z human_phenotype owl:Class HP:0032154 biolink:NamedThing Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpak2llvmy_mondo_relaxed.owl Canker sore 2018-12-02 14:06:55+00:00 peter human_phenotype owl:Class GO:0032768 biolink:NamedThing regulation of monooxygenase activity Any process that modulates the activity of a monooxygenase. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051341 biolink:NamedThing regulation of oxidoreductase activity Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpak2llvmy_mondo_relaxed.owl oxidoreductase regulator owl:Class MONDO:0018205 biolink:NamedThing distal monosomy 1q 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. tmpak2llvmy_mondo_relaxed.owl monosomy 1qter|distal deletion 1q|telomeric deletion 1q|distal monosomy type 1q ICD10:Q93.5|SCTID:717633007|Orphanet:36367|UMLS:C4273897 owl:Class MONDO:0021181 biolink:NamedThing inherited blood coagulation disorder Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. tmpak2llvmy_mondo_relaxed.owl rare genetic coagulation disorder|coagulation disorders, hereditary|inherited coagulation disorders|inherited coagulation disorder|hereditary blood coagulation disease|inherited blood coagulation disorders|inherited blood coagulation disease|hereditary coagulation disorders|hereditary blood coagulation disorders|hereditary coagulation disorder|coagulation disorder, hereditary|coagulation disorder, inherited|coagulation disorders, inherited Orphanet:183654|UMLS:C0852077|DOID:2214|MESH:D025861|UMLS:CN226819 owl:Class CHEBI:28616 biolink:NamedThing carbamic acid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. tmpak2llvmy_mondo_relaxed.owl Aminoameisensaeure|Aminoformic acid|Carbamate|carbamic acid|CARBAMIC ACID|Carbamic acid|Carbamidsaeure owl:Class CHEBI:35352 biolink:NamedThing organonitrogen compound Any heteroorganic entity containing at least one carbon-nitrogen bond. tmpak2llvmy_mondo_relaxed.owl organonitrogen compounds|organonitrogens owl:Class MONDO:0019503 biolink:NamedThing anterior segment dysgenesis A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). tmpak2llvmy_mondo_relaxed.owl ASGD|familial ocular anterior segment mesenchymal dysgenesis|ASMD|anterior segment ocular dysgenesis|anterior segment mesenchymal dysgenesis|ASOD Orphanet:88632|GARD:0010025|SCTID:65075004|ICD10:Q13.8|OMIMPS:107250|ICD9:743.49 owl:Class GO:0033157 biolink:NamedThing regulation of intracellular protein transport Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011374 biolink:NamedThing hypercholesterolemia, familial, 4 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. tmpak2llvmy_mondo_relaxed.owl FHCB2|ARH2|FHCB1, formerly|hypercholesterolemia, autosomal recessive, 2, formerly|FHCB1|hypercholesterolemia, autosomal recessive, 1, formerly|autosomal recessive hypercholesterolemia 1|hypercholesterolemia, autosomal recessive, 2|FHCB2, formerly|hypercholesterolemia, autosomal recessive, 1|ARH1|ARH|autosomal recessive hypercholesterolemia 2|hypercholesterolemia, autosomal recessive|familial autosomal recessive hypercholesterolemia DOID:0090105|OMIM:603813|MESH:C566331|ICD10:E78.0|NCIT:C128114|UMLS:C1863512 owl:Class MONDO:0018328 biolink:NamedThing homozygous familial hypercholesterolemia tmpak2llvmy_mondo_relaxed.owl homozygous familial hypercholesterolemia|HoFH Orphanet:391665|ICD10:E78.0|SCTID:238078005 owl:Class NCBITaxon:188550 biolink:NamedThing Raphignathae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83145 biolink:NamedThing Eleutherengona tmpak2llvmy_mondo_relaxed.owl Eleutherengonides GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018144 biolink:NamedThing congenital myasthenic syndromes with glycosylation defect tmpak2llvmy_mondo_relaxed.owl Orphanet:353327|ICD10:G70.2 owl:Class UBERON:0003682 biolink:NamedThing palatal muscle The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni). tmpak2llvmy_mondo_relaxed.owl musculi palati mollis et faucium|muscle of palate|palatal muscle|palate muscle|palatine muscle owl:Class MONDO:0001832 biolink:NamedThing bacterial esophagitis An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. tmpak2llvmy_mondo_relaxed.owl bacterial esophagitis SCTID:235601001|NCIT:C27106|UMLS:C0341108|DOID:13921 owl:Class GO:0005488 biolink:NamedThing binding The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. tmpak2llvmy_mondo_relaxed.owl ligand owl:Class MONDO:0020546 biolink:NamedThing acute graft versus host disease A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. tmpak2llvmy_mondo_relaxed.owl graft versus host disease, acute|acute GVHD|fulminant graft versus host disease|GVHD, acute ICD10:D89.810|GARD:0006544|MedDRA:10066260|ICD9:279.51|NCIT:C4980|ICD10:T86.0|UMLS:C0856825|SCTID:402355000|Orphanet:99920 https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease owl:Class MONDO:0013730 biolink:NamedThing graft versus host disease Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. tmpak2llvmy_mondo_relaxed.owl GVHD|graft-versus-host disease, resistance to|graft-versus-host diseases|disease, graft-VS-host|graft versus host disease|graft-versus-host disease|diseases, graft-VS-host|runt disease|disease, homologous wasting|GVH|diseases, graft-versus-host|graft-VS-host disease|graft-VS-host diseases|disease, graft-versus-host|graft VS. host disease|homologous wasting disease|disease, runt|graft-versus-host-disease|graft-versus-host disease, susceptibility to|graft VS host disease|GVHDS MESH:D006086|OMIM:614395|MedDRA:10018651|ICD10:T86.0|NCIT:C3063|UMLS:C0018133|Orphanet:39812|SCTID:234646005|ICD9:279.50 owl:Class MONDO:0008965 biolink:NamedThing CHARGE syndrome CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). tmpak2llvmy_mondo_relaxed.owl CHARGE syndrome|Hall-Hittner syndrome|CHARGE association|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies ICD9:759.89|MedDRA:10064063|SCTID:47535005|NCIT:C75100|OMIM:214800|DOID:0050834|ICD10:Q87.8|ICD10:Q89.8|Orphanet:138|GARD:0000029|UMLS:C0265354|MESH:D058747 owl:Class MONDO:0015493 biolink:NamedThing lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:156156 owl:Class MONDO:0020087 biolink:NamedThing genetic lipodystrophy Genetic lipodystrophy. tmpak2llvmy_mondo_relaxed.owl genetic lipodystrophy (disease)|genetic lipodystrophy SCTID:724841000|ICD10:E88.1|Orphanet:98305|UMLS:C4511302 owl:Class UBERON:0003329 biolink:NamedThing submucosa of anal canal A submucosa that is part of an anal canal [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of anal canal viewed anatomically|anal canal viewed anatomically submucosa|anal canal submucosa|submucosa of anal region|anatomical anal canal submucosa|anal region submucosa|submucosa of anatomical anal canal owl:Class HP:0004354 biolink:NamedThing Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025344 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter 2008-03-17T01:11:00Z human_phenotype owl:Class HP:0032180 biolink:NamedThing Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. tmpak2llvmy_mondo_relaxed.owl 2019-01-12 13:45:59+00:00 peter human_phenotype owl:Class GO:0030811 biolink:NamedThing regulation of nucleotide catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpak2llvmy_mondo_relaxed.owl regulation of nucleotide catabolism|regulation of nucleotide degradation|regulation of nucleotide breakdown owl:Class UBERON:0006239 biolink:NamedThing future central tendon A tendon that has the potential to develop into a central tendon. tmpak2llvmy_mondo_relaxed.owl cranial part of septum transversum|cranial derivative of septum transversum owl:Class MONDO:0004756 biolink:NamedThing nasal cavity neoplasm A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl nasal cavity neoplasm (disease)|neoplasm of nasal cavity|nasal cavity tumor|tumor of nasal cavity|neoplasm of the nasal cavity|nasal cavity neoplasm|tumor of the nasal cavity UMLS:C0345630|SCTID:126670003|NCIT:C4413|DOID:9310 owl:Class MONDO:0002232 biolink:NamedThing nasal cavity disease A disease involving the nasal cavity. tmpak2llvmy_mondo_relaxed.owl nasal cavity disease or disorder|disorder of nasal cavity|nasal cavity disorder|disease or disorder of nasal cavity|disease of nasal cavity|nasal cavity disease DOID:2163|SCTID:232340005|UMLS:C0339820|NCIT:C27102 owl:Class MONDO:0008740 biolink:NamedThing agnathia-otocephaly complex Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. tmpak2llvmy_mondo_relaxed.owl agnathia-otocephaly complex|otocephaly|dysgnathia complex agnathia-holoprosencephaly|agnathia-holoprosencephaly|agnathia-holoprosencephaly-situs inversus syndrome|AGOTC|holoprosencephaly-agnathia|Dysgnathia Complex agnathia-holoprosencephaly SCTID:48180002|UMLS:CN207252|GARD:0009126|DOID:0060341|ICD9:759.89|NCIT:C124568|Orphanet:990|OMIM:202650|ICD10:Q18.2|ICD10:Q87.8 owl:Class UBERON:0001962 biolink:NamedThing gut-associated lymphoid tissue Mucosa-associated lymphoid tissue in digestive tract. includes Peyer's patches, appendix, and solitary lymph nodules[GO]. tmpak2llvmy_mondo_relaxed.owl gut associated lymphoid tissue|GALT owl:Class ECTO:0000200 biolink:NamedThing exposure to lipid An exposure to lipid. tmpak2llvmy_mondo_relaxed.owl exposure to lipid owl:Class ECTO:0000135 biolink:NamedThing exposure to organic compound An exposure to organic molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to organic molecular entity owl:Class HP:0003128 biolink:NamedThing Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. tmpak2llvmy_mondo_relaxed.owl Lacticacidemia|Lacticacidosis|Lactic acidemia|Hyperlacticacidemia|Increased lactate in body UMLS:C0347959|SNOMEDCT_US:91273001|MSH:D000140|SNOMEDCT_US:190882007|UMLS:C0001125 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. HP:0003255|HP:0005960 human_phenotype owl:Class HP:0001941 biolink:NamedThing Acidosis Abnormal acid accumulation or depletion of base. tmpak2llvmy_mondo_relaxed.owl MSH:D000138|UMLS:C0001122|SNOMEDCT_US:51387008 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. HP:0001940 human_phenotype owl:Class MONDO:0023062 biolink:NamedThing encephalocele anencephaly tmpak2llvmy_mondo_relaxed.owl GARD:0002109 https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly owl:Class MONDO:0005746 biolink:NamedThing enterobiasis An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. tmpak2llvmy_mondo_relaxed.owl threadworm infection|Enterobius vermicularis caused disease or disorder|Enterobius vermicularis infectious disease|Enterobius vermicularis disease or disorder|Oxyuris vermicularis infection|oxyuriasis|pinworm infection|Enterobius vermicularis infection DOID:7457|SCTID:266162007|ICD10:B80|ICD9:127.4|UMLS:C0086227|NCIT:C128396|EFO:0007254|UMLS:C0030100 owl:Class MONDO:0005943 biolink:NamedThing Rhabditida infectious disease Infections with nematodes of the order rhabditida. tmpak2llvmy_mondo_relaxed.owl Rhabditida infection|infections, Rhabditida|infection, Rhabditida|Rhabditida infections GARD:0008203|EFO:0007468|MESH:D017196|UMLS:C0162631 owl:Class MONDO:0020666 biolink:NamedThing Löfgren syndrome A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain. tmpak2llvmy_mondo_relaxed.owl Löfgrens syndrome|Loefgrens syndrome SCTID:238676008 owl:Class MONDO:0019338 biolink:NamedThing sarcoidosis Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. tmpak2llvmy_mondo_relaxed.owl Boeck sarcoid|sarcoid|Besnier-Boeck-Schaumann disease|lupus pernio of Besnier|sarcoidosis|Boeck's sarcoid|besnier-Boeck-Schaumann syndrome|miliary lupoid of boeck|Boeck's sarcoidosis|benign lymphogranulomatosis of Schaumann|Darier-Roussy sarcoid|lymphogranulomatosis ICD9:135|UMLS:C0036202|ICD10:D86.2|ICD10:D86.3|ICD10:D86|SCTID:31541009|ICD10:D86.8|ICD10:D80-D89|DOID:11335|ICD10:D86.1|ICD10:D86.9|Orphanet:797|NCIT:C34995|MedDRA:10039486|ICD10:D86.0|MESH:D012507 Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease owl:Class MONDO:0022780 biolink:NamedThing cleft lip palate pituitary deficiency tmpak2llvmy_mondo_relaxed.owl GARD:0001382 https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency owl:Class MONDO:0000778 biolink:NamedThing fruit allergy A food allergy triggered by a plant fruit product. tmpak2llvmy_mondo_relaxed.owl DOID:0060503 owl:Class MONDO:0003828 biolink:NamedThing growth hormone-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. tmpak2llvmy_mondo_relaxed.owl malignant pituitary gland somatotropinoma|malignant Growth hormone producing pituitary gland neoplasm|malignant pituitary Somatotrophinoma|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone producing tumor of pituitary gland|malignant Growth hormone producing neoplasm of the pituitary|malignant somatotropinoma of the pituitary gland|malignant Growth hormone secreting tumor of pituitary|malignant Growth hormone secreting neoplasm of pituitary gland|malignant Growth hormone producing neoplasm of pituitary gland|malignant Growth hormone secreting pituitary neoplasm|malignant Growth hormone producing tumor of the pituitary gland|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone secreting tumor of pituitary gland|malignant Growth hormone producing pituitary tumor|malignant somatotropinoma of pituitary gland|malignant somatotropinoma of the pituitary|malignant Somatotrophinoma of the pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone secreting tumor of the pituitary|malignant Somatotrophinoma of pituitary gland|malignant pituitary gland Somatotrophinoma|malignant Growth hormone producing tumor of the pituitary|malignant Growth hormone producing neoplasm of the pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone secreting pituitary tumor|malignant Somatotrophinoma of pituitary|malignant pituitary somatotropinoma|malignant Growth hormone producing pituitary gland tumor|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone secreting pituitary gland tumor|malignant somatotropinoma|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting neoplasm of the pituitary|malignant somatotropinoma of pituitary|malignant Growth hormone producing tumor UMLS:C1334587|NCIT:C5963|DOID:6256 owl:Class UBERON:0010362 biolink:NamedThing endoskeleton Skeletal subdivision that undergoes indirect development and includes elements that develop as a replacement or substitution of other elements or tissues. tmpak2llvmy_mondo_relaxed.owl replacement skeleton owl:Class UBERON:0010912 biolink:NamedThing subdivision of skeleton Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. tmpak2llvmy_mondo_relaxed.owl subdivision of skeleton (in vivo)|skeletal subdivision owl:Class GO:2001199 biolink:NamedThing negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002836 biolink:NamedThing urethra transitional cell carcinoma A transitional cell carcinoma that arises from the male or female urethra. tmpak2llvmy_mondo_relaxed.owl UCU|transitional cell carcinoma of urethra|urethral urothelial carcinoma|urethral urothelial cancer|urethra transitional cell carcinoma|transitional cell carcinoma of the urethra|urethral transitional cell carcinoma DOID:4013|UMLS:C0863015|ONCOTREE:UCU|NCIT:C6166 owl:Class MONDO:0040679 biolink:NamedThing urothelial carcinoma A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. tmpak2llvmy_mondo_relaxed.owl urothelial carcinoma|transitional cell car. -uroth.|Uroepithelial carcinoma|transitional cell carcinoma of the urinary tract|transitional cell carcinoma of the urothelial tract NCIT:C4030|UMLS:C2145472|EFO:0008528 owl:Class MONDO:0004129 biolink:NamedThing cloacogenic carcinoma An anal carcinoma arising from the transitional zone of the anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal cloacogenic carcinoma|cloacogenic anal carcinoma|cloacogenic carcinoma (morphologic abnormality)|anal canal cloacogenic cancer|anal cloacogenic carcinoma|cloacogenic carcinoma of anus|cloacogenic carcinoma of the anus NCIT:C8255|ICDO:8124/3|MESH:C563020|DOID:7173 owl:Class MONDO:0007108 biolink:NamedThing anal canal carcinoma A carcinoma that arises from epithelial cells of the anal canal tmpak2llvmy_mondo_relaxed.owl anal canal and perianal gland carcinoma|anal canal cancer|carcinoma of the anal canal|cloacogenic carcinoma|anal canal and perianal gland cancer|carcinoma of anal canal|anal canal carcinoma DOID:6126|Orphanet:424013|SCTID:285310000|OMIM:105580|NCIT:C7489 owl:Class MONDO:0006004 biolink:NamedThing vasomotor rhinitis Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. tmpak2llvmy_mondo_relaxed.owl ICD10:J30.0|UMLS:C0035460|EFO:0007533|NCIT:C34988|DOID:4730|SCTID:8229003|MESH:D012223 owl:Class MONDO:0003014 biolink:NamedThing rhinitis An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. tmpak2llvmy_mondo_relaxed.owl nasal cavity mucosa inflammation|runny nose|inflammation of nasal cavity mucosa ICD10:J30|MESH:D012220|DOID:4483|NCIT:C34986|UMLS:C0035455|SCTID:70076002|EFO:0008521 owl:Class MONDO:0003390 biolink:NamedThing glycogen-rich clear cell breast carcinoma An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. tmpak2llvmy_mondo_relaxed.owl glycogen-rich carcinoma (morphologic abnormality)|glycogen-rich carcinoma|Glycogen-rich, clear cell breast carcinoma ICDO:8315/3|NCIT:C40368|DOID:5310|UMLS:C1512224 https://github.com/monarch-initiative/mondo/issues/3710 owl:Class MONDO:0004953 biolink:NamedThing invasive ductal breast carcinoma The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. tmpak2llvmy_mondo_relaxed.owl infiltrating ductal breast carcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma|invasive ductal carcinoma, NST|ductal adenocarcinoma|infiltrating ductal carcinoma of breast|invasive ductal adenocarcinoma|infiltrating ductal adenocarcinoma|breast invasive ductal carcinoma|invasive ductal carcinoma of the breast|invasive ductal carcinoma of breast|invasive ductal breast carcinoma|infiltrating ductal carcinoma|invasive ductal carcinoma, No specific type EFO:0000186|ICDO:8521/3|NCIT:C4194|DOID:3008|SCTID:408643008|ONCOTREE:IDC|ICD9:174.8|ICDO:8500/3 owl:Class HP:0004298 biolink:NamedThing Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. tmpak2llvmy_mondo_relaxed.owl Abnormality of external features of the abdomen|Abnormality of the abdominal wall UMLS:C4021664 peter 2008-02-20T11:40:00Z HP:0001462 human_phenotype owl:Class HP:0025031 biolink:NamedThing Abnormality of the digestive system tmpak2llvmy_mondo_relaxed.owl 2016-08-27 13:44:32+00:00 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. HPO:probinson human_phenotype owl:Class HGNC:3148 biolink:NamedThing TYMP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011780 biolink:NamedThing specific language impairment 3 tmpak2llvmy_mondo_relaxed.owl specific language impairment quantitative trait locus on chromosome 13|SLI3|specific language impairment 3 UMLS:C1846719|OMIM:607134 owl:Class MONDO:0000724 biolink:NamedThing specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. tmpak2llvmy_mondo_relaxed.owl language impairment (disease) UMLS:C0454651|DOID:0060244|OMIMPS:606711 owl:Class UBERON:0004296 biolink:NamedThing respiratory system lymphatic vessel smooth muscle A lymphatic vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle of lymph vessel of respiratory system owl:Class UBERON:0008435 biolink:NamedThing vertebral arch of sacral segment A neural arch that is part of a sacral vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019439 biolink:NamedThing AA amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. tmpak2llvmy_mondo_relaxed.owl amyloidosis AA|reactive amyloidosis|inflammatory amyloidosis|amyloid A amyloidosis|secondary amyloidosis UMLS:C3536715|NCIT:C3818|MedDRA:10039811|ICD10:E85.3|SCTID:281034005|UMLS:C0221014|GARD:0010560|ICD9:277.39|Orphanet:85445 https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa owl:Class MONDO:0016179 biolink:NamedThing acquired amyloid peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:209013 owl:Class HGNC:7166 biolink:NamedThing MMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035529 biolink:NamedThing left common iliac artery tmpak2llvmy_mondo_relaxed.owl trunk of left common iliac arterial tree owl:Class MONDO:0004950 biolink:NamedThing gastric carcinoma A carcinoma that arises from epithelial cells of the stomach. tmpak2llvmy_mondo_relaxed.owl malignant tumor of fundus of stomach|gastric fundus cancer|malignant neoplasm of fundus of stomach|cancer of fundus of stomach|gastric cancer, NOS|stomach cancer|cancer of the stomach|carcinoma of stomach|cancer of stomach|gastric cancer|gastric (stomach) cancer|malignant fundus of stomach neoplasm|gastric carcinoma|carcinoma of the stomach|Ca fundus - stomach|stomach carcinoma|fundus of stomach cancer EFO:0000178|UMLS:C0699791|UMLS:C0153420|DOID:5517|SCTID:187741001|ICD9:151.3|ICD10:C16.1|DOID:10538|ICD9:230.2|NCIT:C4911 owl:Class MONDO:0013922 biolink:NamedThing Seckel syndrome 7 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. tmpak2llvmy_mondo_relaxed.owl microcephalic primordial dwarfism, Dauber type|Seckel syndrome 7|SCKL7|Seckel syndrome caused by mutation in NIN|NIN Seckel syndrome|Seckel syndrome type 7 OMIM:614851|ICD10:Q87.1|UMLS:C3553870|DOID:0070011|Orphanet:319675 ORDO calls this microcephalic primordial dwarfism, Dauber type owl:Class MONDO:0019342 biolink:NamedThing Seckel syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. tmpak2llvmy_mondo_relaxed.owl Harper's syndrome|Virchow-Seckel dwarfism|SCKL|bird-headed dwarfism|Seckel-type Dwarfism|nanocephalic Dwarfism ICD10:Q87.1|GARD:0008562|DOID:0050569|Orphanet:808|SCTID:57917004|OMIMPS:210600|UMLS:C0265202|ICD9:759.89|NCIT:C125488 owl:Class HGNC:19286 biolink:NamedThing SCYL2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002217 biolink:NamedThing synovial joint Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA] tmpak2llvmy_mondo_relaxed.owl diarthrodial joints|diarthrosis joint|articulatio synoviale|diarthrosis|diarthroses owl:Class UBERON:0000982 biolink:NamedThing skeletal joint Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. tmpak2llvmy_mondo_relaxed.owl joints|articulation|articular joint|joint owl:Class MONDO:0002973 biolink:NamedThing epithelioid cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpak2llvmy_mondo_relaxed.owl epithelioid melanoma|epithelioid cell malignant melanoma|epithelioid cell melanoma|epithelioid cell melanoma (morphologic abnormality) UMLS:C0334443|DOID:4360|NCIT:C4236|ICDO:8771/3 owl:Class HP:0001371 biolink:NamedThing Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. tmpak2llvmy_mondo_relaxed.owl Contracture|Flexed joint that cannot be straightened|Contractures|Joint contracture|Flexion contractures of joints|Joint contractures|Flexion contractures UMLS:C1850530|UMLS:C0009918|SNOMEDCT_US:57048009|SNOMEDCT_US:7890003|UMLS:C0009917|SNOMEDCT_US:385522000|SNOMEDCT_US:55033002|SNOMEDCT_US:203598005|UMLS:C0333068|SNOMEDCT_US:88565003|MSH:D003286 HP:0005053|HP:0005189|HP:0001372|HP:0001381|HP:0005660 human_phenotype owl:Class HP:0011729 biolink:NamedThing Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023216 peter 2012-04-18T07:09:28Z human_phenotype owl:Class MONDO:0008409 biolink:NamedThing MYH7-related late-onset scapuloperoneal muscular dystrophy tmpak2llvmy_mondo_relaxed.owl scapuloperoneal muscular dystrophy|MYH7-related late-onset SPMD|scapuloperoneal myopathy, MYH7-related|SPMM|scapuloperoneal syndrome, myopathic type|MYH7-related scapuloperoneal myopathy|MYH7-related late-onset scapuloperoneal syndrome|SPMD UMLS:CN074265|GARD:0010313|SCTID:129620000|Orphanet:437572|ICD10:G71.0|OMIM:181430 owl:Class MONDO:0000727 biolink:NamedThing scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. tmpak2llvmy_mondo_relaxed.owl myopathy, scapuloperoneal|scapuloperoneal syndrome, myopathic type DOID:0060253|MESH:C536624|UMLS:C2931268 owl:Class GO:0034622 biolink:NamedThing cellular protein-containing complex assembly The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl cellular protein complex assembly|cellular macromolecule complex assembly owl:Class GO:0065003 biolink:NamedThing protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. tmpak2llvmy_mondo_relaxed.owl macromolecule complex assembly|chaperone activity|protein complex formation|macromolecular complex assembly|protein complex assembly owl:Class MONDO:0007441 biolink:NamedThing dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. tmpak2llvmy_mondo_relaxed.owl dentinogenesis imperfecta without osteogenesis imperfecta|Capdepont teeth|DGI-2|DGI1|DGI-II|dentinogenesis imperfecta 1|opalescent dentin|DI-2|dentinogenesis imperfecta, Shields type 2|dentinogenesis imperfecta type 1|opalescent teeth without osteogenesis imperfecta OMIM:125490|ICD10:K00.5|GARD:0012796|Orphanet:166260 owl:Class MONDO:0024470 biolink:NamedThing benign chondrogenic neoplasm A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma. tmpak2llvmy_mondo_relaxed.owl benign tumor of cartilage|benign tumor of the cartilage|benign cartilaginous tumor|benign neoplasm of the cartilage|benign chondrogenic tumor|chondrogenic neoplasm, benign|benign chondrogenic neoplasm|benign cartilaginous neoplasm|benign neoplasm of cartilage UMLS:C0852519|SCTID:722690001|NCIT:C8592 owl:Class MONDO:0024469 biolink:NamedThing chondrogenic neoplasm A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma. tmpak2llvmy_mondo_relaxed.owl chondromatous tumor|tumor of cartilage|neoplasm of the cartilage|cartilaginous tumor|chondrogenic neoplasm|chondrogenic tumor|tumor of the cartilage|neoplasm of cartilage|cartilaginous neoplasm|chondromatous neoplasm NCIT:C4755|UMLS:C0476147 owl:Class MONDO:0011807 biolink:NamedThing systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, hemolytic Anemia-related|systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|SLEH1 OMIM:607279 owl:Class HGNC:6932 biolink:NamedThing MC4R tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043462 biolink:NamedThing regulation of ATPase activity Any process that modulates the rate of ATP hydrolysis by an ATPase. tmpak2llvmy_mondo_relaxed.owl regulation of adenosinetriphosphatase activity owl:Class UBERON:0001277 biolink:NamedThing intestinal epithelium Epithelial layer that lines the intestine. tmpak2llvmy_mondo_relaxed.owl epithelium of bowel|epithelium of intestine|bowel epithelium|villous epithelium|bowel epithelial tissue|epithelial tissue of bowel|intestine epithelium|epithelial tissue of intestine|intestine epithelial tissue owl:Class CHEBI:32775 biolink:NamedThing D-tyrosinium An optically active form of tyrosinium having D-configuration. tmpak2llvmy_mondo_relaxed.owl D-tyrosine cation|(1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|D-tyrosinium owl:Class CHEBI:32786 biolink:NamedThing tyrosinium An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. tmpak2llvmy_mondo_relaxed.owl 1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosinium|tyrosine cation owl:Class MONDO:0003487 biolink:NamedThing pseudoglandular squamous cell carcinoma A squamous cell carcinoma characterized by the formation of gland-like structures. tmpak2llvmy_mondo_relaxed.owl acantholytic squamous cell carcinoma|adenoid squamous cell carcinoma|adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular epidermoid carcinoma|pseudoglandular epidermoid cell carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|adenoacanthoma|pharyngeal tonsil squamous cell carcinoma|pseudoglandular squamous carcinoma|adenocarcinoma with squamous metaplasia|pseudoglandular squamous cell carcinoma|adenoid squamous carcinoma SCTID:403901001|UMLS:C0334393|ICDO:8075/3|DOID:5524|NCIT:C4106|UMLS:C0334250 owl:Class UBERON:0007617 biolink:NamedThing synovial cavity of joint An anatomical cavity that surrounded_by a synovial joint. tmpak2llvmy_mondo_relaxed.owl synovial cavity|cavitas articularis (junctura synovialis)|articular cavity (synovial joint)|joint cavity|cavity of synovial joint owl:Class GO:2000294 biolink:NamedThing positive regulation of defecation Any process that activates or increases the frequency, rate or extent of defecation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051240 biolink:NamedThing positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpak2llvmy_mondo_relaxed.owl up-regulation of multicellular organismal process|upregulation of multicellular organismal process|up regulation of multicellular organismal process|stimulation of multicellular organismal process|activation of multicellular organismal process owl:Class MONDO:0010802 biolink:NamedThing pancreatic hypoplasia-diabetes-congenital heart disease syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). tmpak2llvmy_mondo_relaxed.owl hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|pancreatic hypoplasia-diabetes-congenital heart disease syndrome|pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|Yorifuji-Okuno syndrome|pancreatic agenesis and congenital heart defects|heart defects, congenital, and other congenital anomalies|HDCA|Yorifuji Okuno syndrome|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease OMIM:600001|SCTID:722206009|ICD10:Q87.8|DOID:0111733|MESH:C564011|Orphanet:2255|GARD:0000347 owl:Class HP:0008063 biolink:NamedThing Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. tmpak2llvmy_mondo_relaxed.owl Absent/small lens|Absent/underdeveloped lens UMLS:C4024738 peter 2008-04-02T03:33:00Z human_phenotype owl:Class HP:0000517 biolink:NamedThing Abnormality of the lens An abnormality of the lens. tmpak2llvmy_mondo_relaxed.owl Abnormality of the lens|Lens issue|Lens disease SNOMEDCT_US:10810001|MSH:D007905|UMLS:C0023308|UMLS:C0549651 human_phenotype owl:Class MONDO:0006622 biolink:NamedThing vulvar seborrheic keratosis A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. tmpak2llvmy_mondo_relaxed.owl seborrheic keratosis of vulva|mammalian vulva seborrheic keratosis|seborrheic keratosis of the vulva|seborrheic keratosis of mammalian vulva UMLS:C1336981|NCIT:C6375|EFO:1000779|DOID:6944 owl:Class MONDO:0005215 biolink:NamedThing vulvar carcinoma A carcinoma that arises from epithelial cells of the mammalian vulva tmpak2llvmy_mondo_relaxed.owl vulva carcinoma|cancer of vulva|vulvar carcinoma|carcinoma of the vulva|vulva cancer|cancer of the vulva|vulvar cancer|mammalian vulva carcinoma|carcinoma of vulva|carcinoma of mammalian vulva SCTID:447882007|UMLS:C0677055|EFO:0002921|NCIT:C4866|DOID:1294|Orphanet:494418 owl:Class MONDO:0006360 biolink:NamedThing penile carcinoma A carcinoma that arises from epithelial cells of the penis tmpak2llvmy_mondo_relaxed.owl cancer penis|penis carcinoma|penile cancer, adult|carcinoma of penis|carcinoma of the penis|penile carcinoma|penile cancer|cancer of penis|cancer of the penis EFO:1000465|GARD:0009366|DOID:3449|SCTID:372106005|NCIT:C9061 owl:Class CHEBI:35789 biolink:NamedThing oxo steroid tmpak2llvmy_mondo_relaxed.owl oxosteroids|keto steroids|ketosteroids|oxo steroids owl:Class GO:0030546 biolink:NamedThing signaling receptor activator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. tmpak2llvmy_mondo_relaxed.owl signalling receptor activator activity|receptor activator activity owl:Class GO:0098772 biolink:NamedThing molecular function regulator A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012353 biolink:NamedThing fin skeleton Skeletal subdivision consisting of all the skeletal elements in a single fin. tmpak2llvmy_mondo_relaxed.owl skeleton of fin owl:Class MONDO:0007573 biolink:NamedThing acute erythroleukemia, familial An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl ERYTHROLEUKEMIA, familial|Di Guglielmo disease, familial|leukemia, acute myelogenous, M6|hereditary acute erythroid leukemia MESH:C565039|OMIM:133180|ICD9:207.0|EFO:0000218 owl:Class MONDO:0017858 biolink:NamedThing acute erythroid leukemia An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl acute erythroleukemia M6b subtype|acute erythroblastic leukemia|acute erythroid leukemia|M6 acute myeloid leukemia|Di Guglielmo syndrome|acute erythroleukemia|Erythroleukemia|erythroblastic leukemia|AEL|FAB M6|acute erythroleukemia M6a subtype|acute myeloid leukemia FAB-M6|AML-M6|leukemia, erythroid, malignant|AML M6|Di Guglielmo's syndrome|acute myeloid leukemia M6 ICD10:C94.0|GARD:0009620|MESH:D004915|ICD9:207.00|ICD9:205.80|UMLS:C0023440|NCIT:C8923|GARD:0009750|ICDO:9840/3|Orphanet:318|SCTID:93451002 https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome|https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia owl:Class GO:0030964 biolink:NamedThing NADH dehydrogenase complex An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. tmpak2llvmy_mondo_relaxed.owl plastid NADH dehydrogenase complex (plastoquinone)|NADH dehydrogenase complex (quinone)|NADH dehydrogenase complex (plastoquinone)|Complex I|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (ubiquinone) owl:Class GO:0098796 biolink:NamedThing membrane protein complex Any protein complex that is part of a membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002820 biolink:NamedThing negative regulation of adaptive immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. tmpak2llvmy_mondo_relaxed.owl down regulation of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response|inhibition of adaptive immune response owl:Class GO:0050777 biolink:NamedThing negative regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpak2llvmy_mondo_relaxed.owl downregulation of immune response|inhibition of immune response|down-regulation of immune response|down regulation of immune response owl:Class MONDO:0007958 biolink:NamedThing familial medullary thyroid carcinoma An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial medullary thyroid carcinoma|familial MTC|hereditary medullary thyroid gland carcinoma|MTC|thyroid carcinoma, familial medullary|hereditary thyroid medullary carcinoma|Fmtc|Mtc1 DOID:0050547|Orphanet:99361|UMLS:C1833921|ICD10:C73|MESH:C536911|OMIM:155240 owl:Class MONDO:0015277 biolink:NamedThing medullary thyroid gland carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. tmpak2llvmy_mondo_relaxed.owl carcinoma, C-cell, malignant|medullary carcinoma of the thyroid|medullary thyroid cancer|thyroid gland neuroendocrine carcinoma|thyroid medullary carcinoma|C cell carcinoma|MTC|carcinoma of parafollicular cell|thyroid cancer, medullary|thyroid carcinoma, medullary|THME|medullary carcinoma of thyroid gland|medullary thyroid cancer (MTC)|medullary carcinoma of thyroid|parafollicular cell carcinoma|thyroid gland medullary cancer|ultimobranchial thyroid tumour|medullary thyroid carcinoma|ultimobranchial thyroid tumor|medullary carcinoma|thyroid gland medullary carcinoma|medullary thyroid gland carcinoma|medullary carcinoma of the thyroid gland DOID:3973|GARD:0007004|UMLS:C0206693|ICD10:C73|NCIT:C3879|SCTID:255032005|Orphanet:1332|HP:0002865|UMLS:C0238462|ONCOTREE:THME|MedDRA:10027101 owl:Class HP:0000164 biolink:NamedThing Abnormality of the dentition Any abnormality of the teeth. tmpak2llvmy_mondo_relaxed.owl Abnormality of the teeth|Dental problem|Dental abnormalities|Dental anomalies|Abnormal dentition|Dental problems|Tooth abnormalities|Dental abnormality|Abnormal teeth MSH:D014071|UMLS:C0040427|UMLS:C0262444|SNOMEDCT_US:422775003 Any abnormality of the primary (deciduous) or permanent teeth. HP:0006348|HP:0006296|HP:0001567 human_phenotype owl:Class HP:0000163 biolink:NamedThing Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. tmpak2llvmy_mondo_relaxed.owl Abnormality of the oral cavity UMLS:C4025887 human_phenotype owl:Class HGNC:8957 biolink:NamedThing PIGA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013504 biolink:NamedThing spermatogenic failure 8 Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. tmpak2llvmy_mondo_relaxed.owl azoospermia caused by mutation in NR5A1|spermatogenic failure type 8|spermatogenic failure 8|NR5A1 azoospermia|SPGF8 DOID:0070169|UMLS:C3151406|OMIM:613957 owl:Class MONDO:0100372 biolink:NamedThing disorder of peroxisomal transporter Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport. tmpak2llvmy_mondo_relaxed.owl disorder of peroxisomal transporter defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0020660 biolink:NamedThing osteoblastic osteosarcoma A conventional osteosarcoma characterized by the predominance of osteoid matrix. tmpak2llvmy_mondo_relaxed.owl osteoblastic osteosarcoma NCIT:C53953 owl:Class MONDO:0002631 biolink:NamedThing conventional osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpak2llvmy_mondo_relaxed.owl conventional central osteosarcoma|central osteosarcoma|conventional osteosarcoma|intracortical osteogenic sarcoma|intracortical osteosarcoma|medullary osteosarcoma|intracortical osteosarcoma (morphologic abnormality) UMLS:C1266166|ICDO:9195/3|NCIT:C35870|DOID:7602|ICDO:9186/3|DOID:3378 owl:Class MONDO:0015482 biolink:NamedThing otomandibular dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:155896 owl:Class MONDO:0015961 biolink:NamedThing genetic head and neck malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:183583 owl:Class MONDO:0009407 biolink:NamedThing hypertrophic neuropathy and cataract tmpak2llvmy_mondo_relaxed.owl hypertrophic neuropathy and cataract OMIM:239900|UMLS:C1855885|MESH:C565490 owl:Class GO:0006766 biolink:NamedThing vitamin metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. tmpak2llvmy_mondo_relaxed.owl vitamin metabolism owl:Class GO:0044281 biolink:NamedThing small molecule metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpak2llvmy_mondo_relaxed.owl small molecule metabolism owl:Class MONDO:0060766 biolink:NamedThing anal polyp A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma. tmpak2llvmy_mondo_relaxed.owl polyp of the anus|polyp of anus|anal polyp SCTID:88580009|UMLS:C0267573|NCIT:C3957 owl:Class MONDO:0021398 biolink:NamedThing polyp of rectum A polyp that involves the rectum. tmpak2llvmy_mondo_relaxed.owl polyp of the rectum|rectal polyp|rectum polyp NCIT:C3351|UMLS:C0034887|SCTID:39772007 owl:Class CL:0000183 biolink:NamedThing contractile cell A cell whose primary function is to shorten. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0024637 biolink:NamedThing malignant soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of soft tissue|malignant tumor of soft tissue|malignant soft tissue neoplasm|malignant tumor of the soft tissue|malignant neoplasm of the soft tissue|malignant soft tissue tumor SCTID:269469005|NCIT:C4867 owl:Class MONDO:0008300 biolink:NamedThing Prader-Willi syndrome Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. tmpak2llvmy_mondo_relaxed.owl Prader-Willi-like syndrome associated with chromosome 6|Willi-Prader syndrome|Prader-Willi syndrome|PWS|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet|Prader Willi syndrome|Prader-Willi-Labhart syndrome|Prader-Willi syndrome chromosome region|Prader-Labhart-Willi syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet ICD10:Q87.1|MESH:D011218|NCIT:C75463|ICD9:759.81|GARD:0005575|DOID:11983|OMIM:176270|MedDRA:10036476|UMLS:C0032897|Orphanet:739|SCTID:89392001 https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome owl:Class MONDO:0017769 biolink:NamedThing acquired immunodeficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:310050 owl:Class MONDO:0005046 biolink:NamedThing immune system disease A disorder resulting from an abnormality in the immune system. tmpak2llvmy_mondo_relaxed.owl disease or disorder of immune system|immune dysfunction|immune system disease or disorder|disorder of immune system|immune system disorder|immune disease|disease of immune system|immune disorder ICD10:D89.9|NCIT:C3507|ICD9:279.8|ICD9:279.4|ICD9:279.10|EFO:0000540|SCTID:414029004|ICD9:279.9|ICD9:279.19|MESH:D007154|ICD9:279|DOID:2914|ICD9:279.1|ICD9:279.49 owl:Class MONDO:0008898 biolink:NamedThing camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl camptodactyly syndrome, Guadalajara, type I|camptodactyly syndrome, Guadalajara, type 1|GCS1|FTSS|faciothoracoskeletal syndrome|camptodactyly syndrome Guadalajara type 1|GCS 1 SCTID:720602007|GARD:0001067|ICD10:Q87.1|OMIM:211910|UMLS:C1859359|Orphanet:1327|MESH:C537970 https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 owl:Class MONDO:0000111 biolink:NamedThing camptodactyly syndrome, Guadalajara tmpak2llvmy_mondo_relaxed.owl Text for OMIM 211910 includes 211920 and 611929 as other types. owl:Class MONDO:0010317 biolink:NamedThing intellectual disability, X-linked, with or without seizures, arx-related tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 33|intellectual disability, X-linked 43|mental retardation, X-linked 29|mental retardation, X-linked, with or without seizures, arx-related|mental retardation, X-linked, with or without seizures, arx-RELATED|MRXARX|mental retardation, X-linked 76|MRX52|intellectual disability, X-linked, with or without seizures, arx-RELATED|mental retardation, X-linked 52|intellectual disability, X-linked, with or without seizures, ARX-related|intellectual disability, X-linked 52|mental retardation, X-linked 43|intellectual disability, X-linked 32|mental retardation, X-linked 38|intellectual disability, X-linked 87|intellectual disability, X-linked 76|intellectual disability, X-linked 54|intellectual disability, X-linked 29|mental retardation, X-linked 33|ARX-related intellectual disability|mental retardation, X-linked 54|intellectual disability, X-linked 38|mental retardation, X-linked 87|mental retardation, X-linked 32 OMIM:300419|UMLS:C1845298|UMLS:C0796244|MESH:C564502|GARD:0005614|OMIM:300504|MESH:C563150 owl:Class MONDO:0024472 biolink:NamedThing boutonneuse fever An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. tmpak2llvmy_mondo_relaxed.owl marseilles fever|Conor and Bruch's disease|Mediterranean tick fever|Kenyan tick typhus|Kenya tick typhus|Rickettsia conorii spotted fever|Kenya fever|boutonneuse fever|boutonneuse disease|African tick typhus|fievre boutonneuse|tick typhus due to rickettsia conorii|Mediterranean spotted fever|South African tick-bite fever Orphanet:83313|MESH:D001907|MedDRA:10006045|SCTID:186774005|UMLS:C0006060|DOID:14095|ICD9:082.1|ICD10:A77.1|Orphanet:101334|EFO:0007179 owl:Class MONDO:0017216 biolink:NamedThing calciphylaxis cutis Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. tmpak2llvmy_mondo_relaxed.owl Orphanet:280065|UMLS:C4274083|SCTID:717043006|ICD10:E83.5 owl:Class MONDO:0019571 biolink:NamedThing autosomal dominant cutis laxa Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. tmpak2llvmy_mondo_relaxed.owl ADCL|cutis laxa, autosomal dominant MESH:C562627|ICD10:Q82.8|GARD:0001639|Orphanet:90348|SCTID:111388003|DOID:0070142|UMLS:C0268350 https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant owl:Class UBERON:0004356 biolink:NamedThing apical ectodermal ridge multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. tmpak2llvmy_mondo_relaxed.owl crista ectodermalis apicalis|AER|apical epidermal ridge owl:Class MONDO:0013994 biolink:NamedThing Joubert syndrome 20 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpak2llvmy_mondo_relaxed.owl JBTS20|TMEM231 Joubert syndrome|Joubert syndrome type 20|Joubert syndrome caused by mutation in TMEM231|Joubert syndrome 20 OMIM:614970|UMLS:C3554235|DOID:0110989 owl:Class MONDO:0016364 biolink:NamedThing Joubert syndrome with ocular defect Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. tmpak2llvmy_mondo_relaxed.owl JS-O|JBTS3|Joubert syndrome with ocular anomalies|Joubert syndrome with retinopathy|Joubert syndrome 3 ICD10:H35.5|GARD:0010168|ICD10:Q04.3|UMLS:CN201217|SCTID:716998009|Orphanet:220493|UMLS:C4274118 https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies owl:Class MONDO:0008465 biolink:NamedThing Patterson-Stevenson-Fontaine syndrome Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. tmpak2llvmy_mondo_relaxed.owl Patterson-Stevenson-Fontaine syndrome|split-foot deformity with ectrodactyly and mandibulofacial dysostosis|split foot deformity-mandibulofacial dysostosis syndrome|Patterson Stevenson Fontaine syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome GARD:0004260|SCTID:724069009|ICD10:Q87.0|UMLS:C1866741|OMIM:183700|Orphanet:2439 https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome owl:Class MONDO:0015334 biolink:NamedThing branchial arch or oral-acral syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:139036|UMLS:CN199364 owl:Class GO:0045669 biolink:NamedThing positive regulation of osteoblast differentiation Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. tmpak2llvmy_mondo_relaxed.owl up-regulation of osteoblast differentiation|activation of osteoblast differentiation|stimulation of osteoblast differentiation|up regulation of osteoblast differentiation|upregulation of osteoblast differentiation owl:Class MONDO:0008749 biolink:NamedThing pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. tmpak2llvmy_mondo_relaxed.owl pseudohypoparathyroidism, type II|PHP2|PHP II|Php 2 ICD9:275.49|ICD10:E20.1|SCTID:42183005|UMLS:C2932717|UMLS:CN206737|OMIM:203330|MESH:C548077|GARD:0010682|Orphanet:94090 https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 owl:Class MONDO:0019992 biolink:NamedThing pseudohypoparathyroidism Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). tmpak2llvmy_mondo_relaxed.owl NCIT:C99027|ICD10:E20.1|MESH:D011547|GARD:0010758|UMLS:C0033806|DOID:4184|Orphanet:97593|MedDRA:10037126|SCTID:58976002|ICD9:275.49 https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism owl:Class MONDO:0001234 biolink:NamedThing adhesive otitis media An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. tmpak2llvmy_mondo_relaxed.owl adhesive otitis media|fibrotic adhesive otitis media|adhesive middle ear disease|chronic adhesive otitis media ICD9:385.1|SCTID:7699004|ICD9:385.10|UMLS:C0155478|ICD10:H74.1|DOID:11235 owl:Class MONDO:0002409 biolink:NamedThing auditory system disease A disease involving the auditory system. tmpak2llvmy_mondo_relaxed.owl auditory system disease or disorder|disease or disorder of auditory system|disease of auditory system|auditory disease|ear and mastoid disease|disorder of auditory system|auditory system disease SCTID:362966006|ICD9:388.9|ICD10:H93.90|DOID:2742|ICD10:H93.9|EFO:1001455 owl:Class MONDO:0016372 biolink:NamedThing glossopharyngeal neuralgia Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. tmpak2llvmy_mondo_relaxed.owl neuralgia of glossopharyngeal nerve|glossopharyngeal neuralgia|glossopharyngeal nerve neuralgia|Glossovasopharyngeal neuralgia SCTID:43763009|MedDRA:10018391|Orphanet:221098|UMLS:C0154731|DOID:14423|GARD:0006519|ICD9:352.1|ICD10:G52.1 https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia owl:Class MONDO:0002639 biolink:NamedThing glossopharyngeal nerve disease A disease involving the glossopharyngeal nerve. tmpak2llvmy_mondo_relaxed.owl ninth nerve disorder|glossopharyngeal nerve disorder|disorder of glossopharyngeal nerve|glossopharyngeal nerve disease or disorder|disease of glossopharyngeal nerve|glossopharyngeal nerve disease|IX nerve disorder|disease or disorder of glossopharyngeal nerve DOID:3418|ICD9:352.2|SCTID:80962007|ICD9:352|UMLS:C0751941|NCIT:C27211|ICD10:G52 owl:Class GO:0001505 biolink:NamedThing regulation of neurotransmitter levels Any process that modulates levels of neurotransmitter. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29017 biolink:NamedThing PLEKHM1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7758 biolink:NamedThing NEU1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001686 biolink:NamedThing Loss of voice tmpak2llvmy_mondo_relaxed.owl Aphonia UMLS:C0003564|MSH:D001044|SNOMEDCT_US:44564008|SNOMEDCT_US:441913003 human_phenotype owl:Class HP:0001608 biolink:NamedThing Abnormality of the voice tmpak2llvmy_mondo_relaxed.owl Abnormality of the voice|Voice abnormality UMLS:C4021776 This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. human_phenotype owl:Class UBERON:0007223 biolink:NamedThing osseus cochlea The osseous cochlea is the bony foundation that forms the small shell arrangement for the cochlear nerve. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000477 biolink:NamedThing anatomical cluster Anatomical group that has its parts adjacent to one another. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14135 biolink:NamedThing PIGQ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014633 biolink:NamedThing myoclonic-atonic epilepsy tmpak2llvmy_mondo_relaxed.owl mae|myoclonic-atonic epilepsy OMIM:616421|UMLS:C4085238 owl:Class MONDO:0006649 biolink:NamedThing anterior ischemic optic neuropathy Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. tmpak2llvmy_mondo_relaxed.owl ischemic optic neuropathy|aion|optic disc infarction leading to vision loss ICD10:H47.01|DOID:12010|MedDRA:10068250|EFO:1000809|GARD:0009790|MESH:D018917|SCTID:404659001|UMLS:C0155305|ICD9:377.41 https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy owl:Class MONDO:0002135 biolink:NamedThing optic nerve disease A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). tmpak2llvmy_mondo_relaxed.owl cranial nerve II disease|optic nerve disorder|disease or disorder of cranial nerve II|disease of cranial nerve II|disorder of the second nerve|second cranial nerve disorder|optic neuropathy|cranial nerve II disease or disorder|disorder of cranial nerve II DOID:1891|ICD9:377.49|SCTID:77157004|UMLS:C0029132|NCIT:C79698|ICD9:377.9|MESH:D009901 owl:Class GO:0007618 biolink:NamedThing mating The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044703 biolink:NamedThing multi-organism reproductive process A biological process that directly contributes to the process of producing new individuals, involving another organism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006558 biolink:NamedThing L-phenylalanine metabolic process The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. tmpak2llvmy_mondo_relaxed.owl phenylalanine metabolism|L-phenylalanine metabolism|phenylalanine metabolic process owl:Class GO:0009072 biolink:NamedThing aromatic amino acid family metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpak2llvmy_mondo_relaxed.owl aromatic amino acid family metabolism owl:Class GO:0045927 biolink:NamedThing positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpak2llvmy_mondo_relaxed.owl upregulation of growth|stimulation of growth|up-regulation of growth|activation of growth|up regulation of growth owl:Class MONDO:0014552 biolink:NamedThing lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. tmpak2llvmy_mondo_relaxed.owl Meckel syndrome type 12|Meckel syndrome 12|MKS12 OMIM:616258|UMLS:C4015701|Orphanet:439897 owl:Class UBERON:0001275 biolink:NamedThing pubis A paired endochondral bone making up the anteroventral region of the tripartite pelvic girdle forming part of the ventral edge of the acetabulum. The origin site of many proximal hindlimb muscles. [PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl pubic bone|os pubis|pubis bone owl:Class UBERON:0008202 biolink:NamedThing bone of hip region tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002581 biolink:NamedThing spindle cell rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. tmpak2llvmy_mondo_relaxed.owl SCRMS|spindle cell rhabdomyosarcoma (morphologic abnormality) UMLS:C1266134|DOID:3260|ICDO:8912/3|SCTID:404055006|ONCOTREE:SCRMS|NCIT:C6519|ICD9:171.9 owl:Class MONDO:0002927 biolink:NamedThing spindle cell sarcoma A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. tmpak2llvmy_mondo_relaxed.owl spindle cell sarcoma DOID:4235|NCIT:C27005|ICDO:8801/3|UMLS:C0205945 owl:Class MONDO:0009277 biolink:NamedThing glaucoma 3A An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. tmpak2llvmy_mondo_relaxed.owl buphthalmos|glaucoma 3, primary congenital, type a|glaucoma, primary open angle, adult-onset|GLC3A|glaucoma 3, primary congenital, A|glaucoma, congenital|glaucoma, primary open angle, juvenile-onset|simple buphthalmos|Primary Congenital glaucoma 3A DOID:11211|OMIM:231300|ICD9:743.21|NCIT:C148260 Editor note: check DO placement owl:Class MONDO:0020366 biolink:NamedThing congenital glaucoma Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. tmpak2llvmy_mondo_relaxed.owl buphthalmos|primary congenital glaucoma|Buphthalmus|buphthalmia SCTID:204113001|NCIT:C50648|GARD:0002485|ICD10:Q15.0|Orphanet:98976 Editor note: check placement of subclasses owl:Class MONDO:0013823 biolink:NamedThing autosomal dominant nonsyndromic deafness 4B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 4B|DFNA4B|deafness, autosomal dominant 4B|autosomal dominant deafness 4B|autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|CEACAM16 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 4B OMIM:614614|DOID:0110574|ICD10:H90.3|UMLS:C3281297 owl:Class MONDO:0003369 biolink:NamedThing vagina leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of the vagina|vaginal leiomyosarcoma|vagina leiomyosarcoma|leiomyosarcoma of vagina UMLS:C1336940|NCIT:C6326|DOID:5283 owl:Class MONDO:0022675 biolink:NamedThing cataract skeletal anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0001158 https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies owl:Class CL:0002267 biolink:NamedThing type D cell of stomach A type D cell found in the stomach. tmpak2llvmy_mondo_relaxed.owl stomach D-cell|delta cell of stomach|stomach delta cell FMA:83410 tmeehan 2010-09-10T01:36:03Z cell owl:Class CL:0000502 biolink:NamedThing type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. tmpak2llvmy_mondo_relaxed.owl D cell FMA:62935 cell owl:Class MONDO:0044992 biolink:NamedThing mouth mucosa disease A disease or disorder that involves the mouth mucosa. tmpak2llvmy_mondo_relaxed.owl disorder of oral mucous membrane|mouth mucosa disease or disorder|disease or disorder of mouth mucosa|disorder of mouth mucosa|disease of mouth mucosa|oral mucous membrane disease SCTID:128046007|UMLS:C1290071 owl:Class MONDO:0014459 biolink:NamedThing Adams-Oliver syndrome 5 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. tmpak2llvmy_mondo_relaxed.owl AOS5|Adams-Oliver syndrome 5|NOTCH1 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in NOTCH1|Adams-Oliver syndrome type 5|Notch1 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in Notch1 UMLS:C4014970|OMIM:616028 owl:Class MONDO:0021177 biolink:NamedThing autoimmune hepatitis type 3 Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens. tmpak2llvmy_mondo_relaxed.owl autoimmune hepatitis type 3 SCTID:721713007|UMLS:C4303162 owl:Class MONDO:0016264 biolink:NamedThing autoimmune hepatitis Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. tmpak2llvmy_mondo_relaxed.owl autoimmune chronic hepatitis|chronic autoimmune hepatitis|autoimmune chronic active hepatitis|AIH|autoimmune hepatitis|autoimmune hepatitis with centrilobular necrosis|autoimmune liver disease EFO:0005676|GARD:0005871|Orphanet:2137|SCTID:408335007|UMLS:C1332355|ICD9:571.42|MedDRA:10003827|UMLS:C0241910|NCIT:C27029|MESH:D019693|ICD10:K75.4|DOID:2048 owl:Class MONDO:0014800 biolink:NamedThing progressive scapulohumeroperoneal distal myopathy tmpak2llvmy_mondo_relaxed.owl myopathy, scapulohumeroperoneal|SHPM OMIM:616852|UMLS:C4225181|Orphanet:447977|ICD10:G71.0 owl:Class MONDO:0100084 biolink:NamedThing alpha-actinopathy A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. tmpak2llvmy_mondo_relaxed.owl actinopathy|alpha-actinopathy|actin myopathy|alpha actinopathy|ACTA1 disease The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. owl:Class CHEBI:24400 biolink:NamedThing glycoside A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. tmpak2llvmy_mondo_relaxed.owl glycosides|O-glycosides|O-glycoside owl:Class CHEBI:63161 biolink:NamedThing glycosyl compound A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity. tmpak2llvmy_mondo_relaxed.owl glycosyl compounds owl:Class CL:1000433 biolink:NamedThing epithelial cell of lacrimal canaliculus An epithelial cell that is part of the lacrimal canaliculus. tmpak2llvmy_mondo_relaxed.owl FMA:70553 cell owl:Class MONDO:0005761 biolink:NamedThing filarial elephantiasis Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. tmpak2llvmy_mondo_relaxed.owl elephantiasis|Bancroftian filarial chyluria|Wuchereria Bancrofti infection|Wuchereriasis|Malayi tropical eosinphilia|Bancroftian elephantiasis|eyelid elephantiasis|elephantiasis of eyelid|Bancroftian filariasis SCTID:240820001|NCIT:C128360|DOID:12211|SCTID:14100003|MESH:D004605|ICD10:B74.0|GARD:0003321|ICD10:B74.2|ICD9:374.83|ICD10:B74.1|Orphanet:2035|EFO:0007272|MedDRA:10016675 owl:Class UBERON:0002342 biolink:NamedThing neural crest A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. tmpak2llvmy_mondo_relaxed.owl crista neuralis|NC|neural crest material owl:Class UBERON:0005148 biolink:NamedThing metanephric S-shaped body The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010255 biolink:NamedThing 3rd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 3rd arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl 3rd pharyngeal arch mesenchyme derived from neural crest|branchial arch 3 mesenchyme from neural crest|pharyngeal arch 3 mesenchyme from neural crest|mesenchyme derived from neural crest of mesenchyme of 3rd arch|neural crest derived arch 3 mesenchyme owl:Class UBERON:0010258 biolink:NamedThing mesenchyme from rhombencephalic neural crest Mesenchyme that develops_from a rhombencephalon neural crest. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001824 biolink:NamedThing polyneuropathy A disease or disorder affecting more than one nerve. tmpak2llvmy_mondo_relaxed.owl polyneuropathy MESH:D011115|NCIT:C26951|DOID:1389|UMLS:C0152025|ICD10:G62.9|SCTID:42345000|ICD10:A69.22|ICD9:357.4|ICD9:356.9 owl:Class MONDO:0017902 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency UMLS:CN203961|ICD10:D84.8|Orphanet:319574 owl:Class MONDO:0013953 biolink:NamedThing immunodeficiency 28 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 28|IMD28|IFNGR2 primary immunodeficiency disease|immunodeficiency 28|Ifngr2 deficiency|immunodeficiency 28, Mycobacteriosis|primary immunodeficiency disease caused by mutation in IFNGR2 UMLS:C4013947|OMIM:614889 owl:Class MONDO:0016030 biolink:NamedThing Evans syndrome Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. tmpak2llvmy_mondo_relaxed.owl Evan syndrome|Evans' syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia|immune pancytopenia UMLS:C0272126|MedDRA:10053873|ICD9:287.32|NCIT:C61284|SCTID:75331009|Orphanet:1959|MESH:C536380|DOID:8931|GARD:0006389|ICD10:D69.41|ICD10:D69.3 https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome owl:Class MONDO:0020110 biolink:NamedThing pulmonary agenesis An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. tmpak2llvmy_mondo_relaxed.owl congenital absence of lung|congenital lung agenesis|unilateral lobar pulmonary agenesis|unilateral lung agenesis NCIT:C99028|UMLS:C0265780|ICD9:748.5|ICD10:Q33.3|SCTID:66489009|MedDRA:10037322|GARD:0009119|Orphanet:984 owl:Class PATO:0000467 biolink:NamedThing present A quality inhering in a bearer by virtue of the bearer's existence. tmpak2llvmy_mondo_relaxed.owl present in organism owl:Class PATO:0000070 biolink:NamedThing amount The number of entities of this type that are part of the whole organism. tmpak2llvmy_mondo_relaxed.owl quantitative|presence|presence or absence in organism|number|count in organism owl:Class UBERON:0007735 biolink:NamedThing metacarpophalangeal joint of manual digit 1 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1. tmpak2llvmy_mondo_relaxed.owl metacarpophalangeal joint of first digit of hand|metacarpophalangeal joint of manual digit I|metacarpophalangeal joint of digit 1|metacarpo-phalangeal joint of digit 1 of fore-paw|metacarpophalangeal joint of thumb owl:Class MONDO:0011874 biolink:NamedThing neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. tmpak2llvmy_mondo_relaxed.owl ichthyosis-sclerosing cholangitis syndrome|Ilvasc|IHSC|NISCH syndrome|ILVASC|Nisch syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|neonatal ichthyosis-sclerosing cholangitis syndrome SCTID:724278007|GARD:0010583|OMIM:607626|MESH:C564365|Orphanet:59303|UMLS:C1843355 owl:Class MONDO:0018646 biolink:NamedThing sclerosing cholangitis A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. tmpak2llvmy_mondo_relaxed.owl sclerosing cholangitis (disease)|fibrosing cholangitis|Primary sclerosing cholangitis|sclerosing cholangitis|primary sclerosing cholangitis (PSC) sclerosing cholangitis (disease) NCIT:C4828|ICD10:K83.0|DOID:14268|Orphanet:447771|UMLS:C0008313|SCTID:235917005|HP:0030991|EFO:0004268 owl:Class MONDO:0015398 biolink:NamedThing hemifacial microsomia tmpak2llvmy_mondo_relaxed.owl otomandibular dysostosis|otomandibular syndrome|Laterofacial microsomia|first branchial arch syndrome SCTID:109393007|UMLS:CN199493|GARD:0006582|ICD10:Q75.8|Orphanet:141136 owl:Class MONDO:0015397 biolink:NamedThing oculo-auriculo-vertebral spectrum tmpak2llvmy_mondo_relaxed.owl hemifacial microsomia|oculoauriculovertebral spectrum|oculoauriculovertebral dysplasia|oculo-auriculo-vertebral dysplasia|OAV spectrum|OAV (oculoauriculovertebral) dysplasia|HFM|OAVD|Fav sequence|facio-auriculo-vertebral spectrum|Goldenhar disease|facioauriculovertebral dysplasia|Goldenhar syndrome|first and second branchial arch syndrome|unilateral or bilateral and asymmetric otomandibular dysplasia|first arch syndrome|oculoauriculovertebral syndrome|OAVS|Expanded spectrum hemifacial microsomia|facioauriculovertebral sequence|Expanded spectrum of hemifacial microsomia|OAV dysplasia GARD:0006540|OMIM:164210|UMLS:C0265240|DOID:2907|Orphanet:374|ICD9:759.89|Orphanet:141132|ICD10:Q87.0|GARD:0012074|SCTID:367462009|NCIT:C84740|MESH:D006053 https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum owl:Class MONDO:0015384 biolink:NamedThing digestive duplication cyst of the tongue Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. tmpak2llvmy_mondo_relaxed.owl gastric duplication cyst of the tongue|tongue cysts and fistulae of the face and oral cavity|foregut duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|enteric duplication cyst of the tongue Orphanet:141071|ICD10:Q38.3 owl:Class MONDO:0015476 biolink:NamedThing cysts and fistulae of the face and oral cavity tmpak2llvmy_mondo_relaxed.owl Orphanet:155835|ICD10:Q18.0 owl:Class CL:0019019 biolink:NamedThing tracheobronchial smooth muscle cell A smooth muscle cell that is part of the tracheobronchial tree. tmpak2llvmy_mondo_relaxed.owl smooth muscle cell of tracheobronchial tree 2020-07-21 12:50:22+00:00 owl:Class CL:0000192 biolink:NamedThing smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). tmpak2llvmy_mondo_relaxed.owl smooth muscle fiber|SMCs|non-striated muscle cell|myocytes, smooth muscle CALOHA:TS-2159|BTO:0004576|FMA:14072 CL:0000191 cell owl:Class UBERON:0005597 biolink:NamedThing lung primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. tmpak2llvmy_mondo_relaxed.owl lateral diverticula|lung diverticulum|lung endoderm owl:Class GO:0009628 biolink:NamedThing response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. tmpak2llvmy_mondo_relaxed.owl response to abiotic stress owl:Class MONDO:0041536 biolink:NamedThing Far-East scarlet-like fever A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. tmpak2llvmy_mondo_relaxed.owl Izumi fever|FESLF UMLS:C0277513|SCTID:47277009 owl:Class MONDO:0007024 biolink:NamedThing Yersinia pseudotuberculosis infectious disease Infections with bacteria of the species yersinia pseudotuberculosis. tmpak2llvmy_mondo_relaxed.owl infection by Yersinia pseudotuberculosis|infections, Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|pseudotuberculosis|Pseudotuberculoses, Pasteurella|infection by Pasteurella pseudotuberculosis|pseudotuberculosis, Pasteurella|Pasteurella pseudotuberculosis SCTID:36753006|EFO:1001246|MESH:D015012|UMLS:C0043410 owl:Class UBERON:0004241 biolink:NamedThing main bronchus smooth muscle A portion of smooth muscle tissue that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl non-striated muscle of bronchus principalis|smooth muscle tissue of main bronchus|principal bronchus involuntary muscle|smooth muscle tissue of bronchus principalis|smooth muscle of main bronchus|primary bronchus smooth muscle tissue|bronchus principalis smooth muscle|principal bronchus smooth muscle tissue|bronchus principalis involuntary muscle|smooth muscle of bronchus principalis|bronchus principalis non-striated muscle|principal bronchus non-striated muscle|primary bronchus non-striated muscle|involuntary muscle of primary bronchus|involuntary muscle of bronchus principalis|primary bronchus smooth muscle|smooth muscle tissue of primary bronchus|main bronchus non-striated muscle|involuntary muscle of main bronchus|non-striated muscle of primary bronchus|non-striated muscle of principal bronchus|primary bronchus involuntary muscle|main bronchus smooth muscle tissue|smooth muscle of primary bronchus|bronchus principalis smooth muscle tissue|main bronchus involuntary muscle|principal bronchus smooth muscle|non-striated muscle of main bronchus|involuntary muscle of principal bronchus|smooth muscle tissue of principal bronchus|smooth muscle of principal bronchus owl:Class UBERON:0004242 biolink:NamedThing bronchus smooth muscle A portion of smooth muscle tissue that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of bronchi|bronchi smooth muscle|bronchus non-striated muscle|involuntary muscle of bronchial trunk|smooth muscle of bronchus|bronchi involuntary muscle|smooth muscle tissue of bronchial trunk|bronchial trunk smooth muscle|smooth muscle of bronchial trunk|non-striated muscle of bronchial trunk|smooth muscle tissue of bronchus|bronchi non-striated muscle|smooth muscle tissue of bronchi|bronchial smooth muscle|non-striated muscle of bronchus|bronchial trunk smooth muscle tissue|bronchus involuntary muscle|bronchial trunk non-striated muscle|smooth muscle of bronchi|bronchus smooth muscle tissue|involuntary muscle of bronchus|bronchi smooth muscle tissue|bronchial trunk involuntary muscle|non-striated muscle of bronchi owl:Class MONDO:0009130 biolink:NamedThing Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. tmpak2llvmy_mondo_relaxed.owl Dyggve-Melchior-Clausen disease|DMC disease|pseudo-Morquio disease type I|DMC|DMC syndrome|Dyggve-Melchior-Clausen syndrome DOID:0111167|ICD10:Q77.7|NCIT:C124844|GARD:0006295|Orphanet:239|SCTID:82699004|UMLS:C0265286|OMIM:223800 owl:Class UBERON:0010712 biolink:NamedThing limb skeleton subdivision Skeletal subdivision that is a segment of the limb skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6854 biolink:NamedThing Arachnida tmpak2llvmy_mondo_relaxed.owl arachnids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6843 biolink:NamedThing Chelicerata tmpak2llvmy_mondo_relaxed.owl chelicerates GC_ID:1 ncbi_taxonomy owl:Class GO:0044260 biolink:NamedThing cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular biopolymer metabolic process|cellular macromolecule metabolism owl:Class MONDO:0021251 biolink:NamedThing endometrium neoplasm A neoplasm (disease) that involves the endometrium. tmpak2llvmy_mondo_relaxed.owl endometrium tumor|tumor of the endometrium|tumor of endometrium|endometrial neoplasm|neoplasm of endometrium|endometrium neoplasm (disease)|endometrial tumor|neoplasm of the endometrium ICD9:239.5|SCTID:123844007|MESH:D016889|NCIT:C3012 owl:Class MONDO:0020738 biolink:NamedThing multiple benign circumferential skin creases on limbs 1 tmpak2llvmy_mondo_relaxed.owl skin creases, congenital symmetric circumferential, 1|CSCSC1 OMIM:156610 owl:Class MONDO:0010004 biolink:NamedThing EEC syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). tmpak2llvmy_mondo_relaxed.owl Rudiger syndrome 1|Walker-Clodius syndrome|ectrodactyly-ectodermal dysplasia-cleft syndrome|RUDIGER syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|ectrodactyly-ectodermal dysplasia-clefting syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-cleft lip/palate syndrome ICD10:Q82.4|UMLS:CN776907|GARD:0002076|MESH:C536189|OMIM:268650|NCIT:C148261|UMLS:C0406704|Orphanet:1896|DOID:0060782|SCTID:39788007 https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome owl:Class MONDO:0020467 biolink:NamedThing mosaic monosomy X tmpak2llvmy_mondo_relaxed.owl Mosaic Turner syndrome|XX/XO|Mosaic monosomy type X SCTID:710010005|UMLS:CN776903|ICD10:Q96.4|Orphanet:99228|UMLS:C4040907|ICD10:Q96.3 Editor note: add qualifier for mosaicism owl:Class MONDO:0020466 biolink:NamedThing monosomy X tmpak2llvmy_mondo_relaxed.owl monosomy type X NCIT:C36630|ICD10:Q96.9|Orphanet:99226|UMLS:CN776902|SCTID:710008008 owl:Class MONDO:0018279 biolink:NamedThing congenital muscular dystrophy without intellectual disability tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy-dystroglycanopathy without intellectual disability|CMD-no MR|CMD without intellectual disability Orphanet:370980|ICD10:G71.2 owl:Class MONDO:0018276 biolink:NamedThing muscular dystrophy-dystroglycanopathy tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy due to dystroglycanopathy|muscular dystrophy-dystroglycanopathy|CMD due to dystroglycanopathy GARD:0012584|ICD10:G71.2|Orphanet:370953|UMLS:CN229783|DOID:0050588 owl:Class MONDO:0001611 biolink:NamedThing phlegmonous dacryocystitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155238|DOID:12997|ICD9:375.33|ICD10:H04.31|SCTID:64324003 owl:Class MONDO:0004926 biolink:NamedThing dacryocystitis Inflammation of the lacrimal sac. tmpak2llvmy_mondo_relaxed.owl lacrimal sac inflammation|Dacryocystitides|Dacryoadenitides|dacryoadenitis|inflammation of lacrimal sac ICD10:H04.30|NCIT:C34521|UMLS:C0010930|SCTID:85777005|DOID:9938|ICD9:375.30|MESH:D003607 owl:Class MONDO:0018868 biolink:NamedThing metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. tmpak2llvmy_mondo_relaxed.owl sulfatide lipoidosis|Scholz cerebral sclerosis|MLD|deficiency of cerebroside-sulfatase|arylsulfatase A deficiency MedDRA:10067609|DOID:10581|Orphanet:512|UMLS:C0023522|ICD10:E75.2|SCTID:66521008|MESH:D007966|ICD10:E75.25|ICD10:E75.29|NCIT:C61251 owl:Class MONDO:0016397 biolink:NamedThing lysosomal disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201328|Orphanet:225681 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class UBERON:0004774 biolink:NamedThing inferior eyelid tarsus An eyelid tarsus that is part of a lower eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl inferior tarsus of eyelid|tarsus of lower eyelid|tarsus inferior|inferior tarsus|tarsal plate of lower eyelid|inferior tarsal plate owl:Class UBERON:0004772 biolink:NamedThing eyelid tarsus The tarsi (tarsal plates) are two comparatively thick, elongated plates of dense connective tissue, about 2.5 cm. in length; one is found in each eyelid, and contributes to its form and support. They directly abut the lid margins. tmpak2llvmy_mondo_relaxed.owl eyelid tarsi|tarsal plate|tarsus palpebralis|tarsal plate of eyelid|tarsi owl:Class MONDO:0011528 biolink:NamedThing hyper-IgM syndrome type 2 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. tmpak2llvmy_mondo_relaxed.owl immunodeficiency with hyper IgM type 2|aid deficiency|activation-induced cytidine deaminase deficiency|hyper-IgM syndrome type 2|AICDA hyper-IgM syndrome|hyper-IgM syndrome 2|HIGM2|hyper-IgM syndrome caused by mutation in AICDA|immunodeficiency with hyper-IgM type 2|Activation-induced cytidine deaminase deficiency|immunodeficiency with hyper-IgM, type 2|hyper IgM syndrome 2 DOID:0060758|SCTID:403836001|NCIT:C129074|ICD10:D80.5|Orphanet:101089|OMIM:605258|GARD:0010578 https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 owl:Class MONDO:0003947 biolink:NamedThing hyper-IgM syndrome A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. tmpak2llvmy_mondo_relaxed.owl hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM SCTID:82286005|ICD9:279.05|Wikidata:Q1617658|NCIT:C3990|UMLS:C0272236|DOID:0080544|MESH:D053306|OMIMPS:308230 Editor note: consider merging two NCIT classes owl:Class MONDO:0008712 biolink:NamedThing acrocraniofacial dysostosis Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl Kaplan Plauchu Fitch syndrome|Kaplan-Plauchu-Fitch syndrome|acrocraniofacial dysostosis OMIM:201050|SCTID:720418008|UMLS:C1860145|MESH:C536892|GARD:0003075|ICD10:Q87.0|Orphanet:949 owl:Class MONDO:0014456 biolink:NamedThing autosomal recessive severe congenital neutropenia due to JAGN1 deficiency tmpak2llvmy_mondo_relaxed.owl SCN6|neutropenia, severe congenital, 6, autosomal recessive ICD10:D70|UMLS:C4014954|Orphanet:423384|OMIM:616022 owl:Class MONDO:0018542 biolink:NamedThing severe congenital neutropenia tmpak2llvmy_mondo_relaxed.owl neutropenia, severe congenital|SCN SCTID:89655007|Orphanet:42738|MedDRA:10052210|OMIMPS:202700|DOID:0050590|ICD10:D70|ICD9:288.01 owl:Class MONDO:0007089 biolink:NamedThing Alzheimer disease 2 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease type 2|Alzheimer disease 2|Alzheimer disease 2, late-onset|Alzheimer disease associated with APOE4|Alzheimer disease-2|late onset Alzheimer disease|Alzheimer disease associated with APOE E4|Alzheimer's disease 2|late onset familial Alzheimer disease|LOFAD|Alzheimer's disease type 2|Alzheimer disease 2, late onset|Alzheimer disease associated with Apoe4|AD2 2021-02-01 MESH:C536595|UMLS:C1863051|GARD:0009467|DOID:0110035|ICD10:G30|OMIM:104310 Reason: duplicate. This will be merged with MONDO:0100088 late-onset familial alzheimer disease owl:Class GO:0045822 biolink:NamedThing negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. tmpak2llvmy_mondo_relaxed.owl negative regulation of cardiac contraction|down-regulation of heart contraction|inhibition of heart contraction|down regulation of heart contraction|downregulation of heart contraction owl:Class GO:1903523 biolink:NamedThing negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. tmpak2llvmy_mondo_relaxed.owl inhibition of hemolymph circulation|down-regulation of blood circulation|negative regulation of hemolymph circulation|downregulation of hemolymph circulation|downregulation of blood circulation|down-regulation of hemolymph circulation|inhibition of blood circulation|down regulation of blood circulation|down regulation of hemolymph circulation owl:Class MONDO:0006601 biolink:NamedThing pityriasis rosea A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. tmpak2llvmy_mondo_relaxed.owl Pityriasis rosea|Pityriasis circinata NCIT:C26855|UMLS:C0032026|DOID:8892|EFO:1000756|Wikipedia:Pityriasis_rosea|SCTID:77252004|MESH:D017515|ICD10:L42|ICD9:696.3 owl:Class MONDO:0004441 biolink:NamedThing childhood ovarian embryonal carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of the ovary|ovarian embryonal carcinoma of childhood|childhood embryonal carcinoma of ovary|pediatric embryonal carcinoma of ovary|pediatric ovarian embryonal carcinoma DOID:8036|NCIT:C6546|UMLS:C1332989 owl:Class MONDO:0004479 biolink:NamedThing malignant childhood germ cell neoplasm A malignant germ cell tumor that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl malignant childhood germ cell tumor|malignant childhood germ cell neoplasm|malignant pediatric germ cell neoplasm|malignant pediatric germ cell tumor DOID:8149|UMLS:C1334574|NCIT:C6541 owl:Class MONDO:0002318 biolink:NamedThing trachea leiomyoma A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the trachea|trachea leiomyoma|trachea neoplasm|leiomyoma of trachea|tracheal tumor|tracheal leiomyoma|tracheal neoplasm SCTID:126703006|UMLS:C1336772|DOID:248|NCIT:C6049 owl:Class MONDO:0021517 biolink:NamedThing benign neoplasm of trachea A benign neoplasm that involves the trachea. tmpak2llvmy_mondo_relaxed.owl trachea benign neoplasm|benign tumor of the trachea|benign trachea tumor|benign neoplasm of the trachea|benign tracheal tumor|benign trachea neoplasm|benign tracheal neoplasm|benign tumor of trachea NCIT:C3602|ICD10:D14.2|ICD9:212.2|SCTID:92446002|UMLS:C0153953 owl:Class MONDO:0014306 biolink:NamedThing vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. tmpak2llvmy_mondo_relaxed.owl childhood-onset polyarteritis nodosa|polyarteritis nodosa, childhood-onset|vasculitis due to DADA2|adenosine deaminase 2 deficiency|DADA2|PAN|ADA2 deficiency OMIM:615688|Orphanet:404553|GARD:0012383|ICD10:M30.8 owl:Class GO:0090181 biolink:NamedThing regulation of cholesterol metabolic process Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044885 biolink:NamedThing tonsillar lipoma A benign adipose tissue neoplasm of the tonsils. tmpak2llvmy_mondo_relaxed.owl lipoma of tonsil|tonsillar lipoma|tonsil lipoma|lipoma of the tonsil NCIT:C5989|UMLS:C1336764 owl:Class MONDO:0021513 biolink:NamedThing benign neoplasm of tonsil A benign neoplasm that involves the tonsil. tmpak2llvmy_mondo_relaxed.owl tonsillar neoplasm, benign|benign tonsil neoplasm|benign tonsillar tumor|benign tonsil tumor|benign tonsillar neoplasm|tonsil benign neoplasm|benign tumor of tonsil|benign tumor of the tonsil|benign neoplasm of the tonsil ICD9:210.5|SCTID:92263001|UMLS:C0153936|NCIT:C3594|ICD10:D10.4 owl:Class MONDO:0006489 biolink:NamedThing vaginal melanoma A primary malignant neoplasm of the vagina composed of malignant melanocytes. tmpak2llvmy_mondo_relaxed.owl melanoma of vagina|mucosal melanoma of the vulva/vagina|melanoma (disease) of vagina|vaginal melanoma|vagina melanoma|vagina melanoma (disease)|melanoma of the vagina UMLS:C2004576|NCIT:C27394|ONCOTREE:VMM|EFO:1000619 owl:Class HP:0000069 biolink:NamedThing Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpak2llvmy_mondo_relaxed.owl Abnormality of the ureters|Ureteral anomalies|Ureter issue UMLS:C1840382 HP:0006001 human_phenotype owl:Class HP:0010935 biolink:NamedThing Abnormality of the upper urinary tract An abnormality of the upper urinary tract. tmpak2llvmy_mondo_relaxed.owl Abnormality of the upper urinary tract UMLS:C4023641 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. peter 2011-01-16T11:37:29Z human_phenotype owl:Class CHEBI:35479 biolink:NamedThing alkali metal salt tmpak2llvmy_mondo_relaxed.owl alkali metal salts owl:Class CHEBI:33296 biolink:NamedThing alkali metal molecular entity A molecular entity containing one or more atoms of an alkali metal. tmpak2llvmy_mondo_relaxed.owl alkali metal molecular entities owl:Class CHEBI:33663 biolink:NamedThing cyclic hydrocarbon tmpak2llvmy_mondo_relaxed.owl cyclic hydrocarbon|cyclic hydrocarbons owl:Class MONDO:0007247 biolink:NamedThing basal ganglia calcification, idiopathic, childhood-onset tmpak2llvmy_mondo_relaxed.owl bilateral striopallidodentate calcinosis childhood-onset|IBGC, childhood-onset|cerebral calcification nonarteriosclerotic idiopathic childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|IBGC childhood onset|idiopathic basal ganglia calcification childhood-onset|striopallidodentate calcinosis, bilateral, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset OMIM:114100|MESH:C536276|GARD:0009598|UMLS:C1861967 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset owl:Class MONDO:0018866 biolink:NamedThing Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. tmpak2llvmy_mondo_relaxed.owl encephalopathy with basal ganglia calcification|Aicardi-Goutières syndrome|pseudotoxoplasmosis syndrome|Cree encephalitis|AGS|Aicardi Goutieres syndrome|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis OMIMPS:225750|SCTID:230312006|Orphanet:51|ICD10:G31.8|DOID:0050629|ICD9:333.0|MESH:C535607|GARD:0000575 owl:Class GO:0042165 biolink:NamedThing neurotransmitter binding Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020747 biolink:NamedThing sitosterolemia 1 tmpak2llvmy_mondo_relaxed.owl STSL1|sitosterolemia 1 OMIM:210250 owl:Class MONDO:0008863 biolink:NamedThing sitosterolemia Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. tmpak2llvmy_mondo_relaxed.owl STSL|macrothrombocytopenia/stomatocytosis, Mediterranean|retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|phytosterolemia|sitosterolemia|plant sterol storage disease Orphanet:2882|ICD10:E78.0|DOID:0090019|OMIMPS:210250|SCTID:238104009|MESH:C537345|MedDRA:10063985|Orphanet:101022|OMIMPS:215250|UMLS:C0342907|GARD:0007653|NCIT:C125694 https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia owl:Class MONDO:0012184 biolink:NamedThing Pierson syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. tmpak2llvmy_mondo_relaxed.owl microcoria-congenital nephrosis syndrome|Pierson syndrome|microcoria - congenital nephrosis|microcoria-congenital nephrotic syndrome|microcoria - congenital nephrotic syndrome SCTID:723449004|NCIT:C128145|GARD:0009420|OMIM:609049|MESH:C537185|Orphanet:2670|UMLS:C1836876|GARD:0003945|DOID:0060852|ICD10:N04.8 https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome owl:Class MONDO:0013621 biolink:NamedThing LAMB2-related infantile-onset nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 5, with or without ocular abnormalities|NPHS5 UMLS:C3280113|Orphanet:306507|ICD10:N04.8|OMIM:614199 owl:Class MONDO:0000409 biolink:NamedThing chorioamnionitis A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. tmpak2llvmy_mondo_relaxed.owl inflammation of fetal membrane|fetal membrane inflammation|intra-amniotic infection DOID:0050697|NCIT:C26720|MESH:D002821|SCTID:11612004 owl:Class MONDO:0018161 biolink:NamedThing non-hereditary retinoblastoma tmpak2llvmy_mondo_relaxed.owl ICD10:C69.2|UMLS:CN204600|Orphanet:357034 owl:Class MONDO:0003277 biolink:NamedThing malignant ear neoplasm A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. tmpak2llvmy_mondo_relaxed.owl cancer of ear|malignant Ear tumor|malignant Ear neoplasm|malignant neoplasm of Ear|malignant tumor of the Ear|malignant ear neoplasm|auricular cancer|malignant tumor of ear|ear cancer|malignant tumor of Ear|malignant neoplasm of the Ear|malignant neoplasm of ear NCIT:C9337|DOID:5101|SCTID:443648003|UMLS:C0751094|MESH:D004428 owl:Class MONDO:0010537 biolink:NamedThing Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. tmpak2llvmy_mondo_relaxed.owl Borjeson syndrome|BFLS|mental retardation, epilepsy, and endocrine disorder|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorder|intellectual disability, epilepsy, and endocrine disorders|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type|Borjeson-Forssman-Lehmann syndrome|intellectual disability-epilepsy-endocrine disorders syndrome|MRXSBFL|mental retardation, epilepsy, and endocrine disorders|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|Borjeson-FORSSMAN-Lehmann syndrome|mental deficiency, epilepsy and endocrine disorders|BORJ|intellectual deficiency-epilepsy-endocrine disorders syndrome DOID:0050681|ICD9:759.89|OMIM:301900|MESH:C536575|SCTID:21634003|Orphanet:127|ICD10:Q87.8|GARD:0000936|UMLS:C0265339 https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome owl:Class MONDO:0015406 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 1 tmpak2llvmy_mondo_relaxed.owl CAMS1 SCTID:703267003|UMLS:C3840102|Orphanet:141194|UMLS:CN199501|ICD10:Q28.2 owl:Class MONDO:0015405 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. tmpak2llvmy_mondo_relaxed.owl CAMS Orphanet:141189|ICD10:Q28.2|UMLS:CN199500|UMLS:C3839265|SCTID:703266007 owl:Class HGNC:1699 biolink:NamedThing CD79B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901862 biolink:NamedThing negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. tmpak2llvmy_mondo_relaxed.owl down regulation of muscle tissue development|inhibition of muscle tissue development|downregulation of muscle tissue development|down-regulation of muscle tissue development owl:Class MONDO:0020606 biolink:NamedThing sex-linked disease tmpak2llvmy_mondo_relaxed.owl sex-linked hereditary disorder ICD9:758.81|SCTID:82852009 owl:Class GO:1902064 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in spermatogenesis Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of transcription from Pol II promoter involved in generation of spermatozoa|regulation of global transcription from Pol II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in spermatogenesis owl:Class GO:0022414 biolink:NamedThing reproductive process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpak2llvmy_mondo_relaxed.owl single organism reproductive process owl:Class GO:0030853 biolink:NamedThing negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. tmpak2llvmy_mondo_relaxed.owl down-regulation of granulocyte differentiation|downregulation of granulocyte differentiation|inhibition of granulocyte differentiation|down regulation of granulocyte differentiation owl:Class MONDO:0009692 biolink:NamedThing primary myelofibrosis Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. tmpak2llvmy_mondo_relaxed.owl myelofibrosis|myelosclerosis|myelosclerosis with myeloid metaplasia|chronic idiopathic myelofibrosis|myeloid metaplasia|osteomyelofibrosis|primary myelofibrosis|idiopathic bone marrow fibrosis|AMM|myelofibrosis with myeloid metaplasia|idiopathic myelofibrosis|megakaryocytic myelosclerosis|Agnogenic myeloid metaplasia|CIMF|bone marrow fibrosis|aleukemic myelosis GARD:0008618|DOID:4971|ICD9:238.76|MESH:D055728|Orphanet:824|UMLS:C2355576|ICDO:9961/3|ICD9:289.83|ICD10:D75.81|UMLS:C0948968|ONCOTREE:PMF|OMIM:254450|ICD10:D47.4|NCIT:C2862|EFO:0002430|UMLS:C0001815 owl:Class MONDO:0015610 biolink:NamedThing acquired aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired aplastic anemia|rare acquired aplastic anemia EFO:0006926|ICD10:D61.1|SCTID:55907008|Orphanet:164823|ICD10:D61.2|UMLS:C0271907 owl:Class MONDO:0021357 biolink:NamedThing tumor of salivary gland A neoplasm (disease) that involves the saliva-secreting gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of the salivary gland|salivary gland neoplasm|saliva-secreting gland neoplasm|tumor of saliva-secreting gland|neoplasm of salivary gland|neoplasm of saliva-secreting gland|saliva-secreting gland tumor|saliva-secreting gland neoplasm (disease)|salivary gland tumor|tumor of the salivary gland NCIT:C3361|EFO:0003826|SCTID:235132004 owl:Class MONDO:0001142 biolink:NamedThing salivary gland disease A disease involving the saliva-secreting gland. tmpak2llvmy_mondo_relaxed.owl disorder of saliva-secreting gland|disease of saliva-secreting gland|salivary gland disorder|saliva-secreting gland disease|non-neoplastic salivary gland disease|salivary gland disease|disease or disorder of saliva-secreting gland|saliva-secreting gland disease or disorder NCIT:C26879|EFO:0008581|SCTID:10890000|MESH:D012466|ICD9:527.8|DOID:10854|ICD9:527.9|UMLS:C0036093 owl:Class MONDO:0003640 biolink:NamedThing verruciform xanthoma of skin A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. tmpak2llvmy_mondo_relaxed.owl verruciform xanthoma|verruciform xanthoma (morphologic abnormality)|verruciform xanthoma of the skin|cutaneous verruciform xanthoma|skin verruciform xanthoma NCIT:C4478|ICD9:215.9|SCTID:254756007|DOID:5769|UMLS:C0346054 owl:Class MONDO:0005236 biolink:NamedThing xanthoma A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. tmpak2llvmy_mondo_relaxed.owl xanthoma|xanthoma (disease) xanthoma (disease) EFO:0003075|NCIT:C4071|HP:0001114 owl:Class UBERON:0001619 biolink:NamedThing ophthalmic artery The ophthalmic artery is a branch of the internal carotid artery which supplies branches to supply the eye and other structures in the orbit. It enters the orbit together with the Optic nerve through the Optic foramen/canal. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl arteria ophthalmica|opthalmic artery owl:Class UBERON:0003496 biolink:NamedThing head blood vessel A blood vessel that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of head|adult head blood vessel|blood vessel of adult head owl:Class GO:0045922 biolink:NamedThing negative regulation of fatty acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpak2llvmy_mondo_relaxed.owl down regulation of fatty acid metabolic process|down-regulation of fatty acid metabolic process|downregulation of fatty acid metabolic process|inhibition of fatty acid metabolic process|negative regulation of fatty acid metabolism owl:Class GO:0045833 biolink:NamedThing negative regulation of lipid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpak2llvmy_mondo_relaxed.owl negative regulation of lipid metabolism|downregulation of lipid metabolic process|down-regulation of lipid metabolic process|inhibition of lipid metabolic process|down regulation of lipid metabolic process owl:Class UBERON:0007300 biolink:NamedThing pectoral appendage blood vessel A blood vessel that is part of a pectoral appendage. tmpak2llvmy_mondo_relaxed.owl pectoral fin blood vessel owl:Class MONDO:0016056 biolink:NamedThing isolated congenital microcephaly tmpak2llvmy_mondo_relaxed.owl primary microcephaly|microcephaly, primary|true microcephaly ICD10:Q02|MedDRA:10027534|Orphanet:199642|GARD:0007038|DOID:0070297 Editor note: check alignment with DO class owl:Class MONDO:0005845 biolink:NamedThing meningoencephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. tmpak2llvmy_mondo_relaxed.owl EFO:0007364|UMLS:C0025309|DOID:10554|SCTID:7125002|ICD10:A69.22|NCIT:C34813|MESH:D008590|ICD10:G04 owl:Class GO:2000155 biolink:NamedThing positive regulation of cilium-dependent cell motility Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. tmpak2llvmy_mondo_relaxed.owl positive regulation of ciliary cell motility owl:Class GO:0030194 biolink:NamedThing positive regulation of blood coagulation Any process that activates or increases the frequency, rate or extent of blood coagulation. tmpak2llvmy_mondo_relaxed.owl activation of blood coagulation|stimulation of blood coagulation|up regulation of blood coagulation|up-regulation of blood coagulation|upregulation of blood coagulation owl:Class OBO:CHR_9606-chr17q21.3 biolink:NamedThing chr17q21.3 (Human) tmpak2llvmy_mondo_relaxed.owl 52100000 42800000 hg38 owl:Class MONDO:0006490 biolink:NamedThing vaginal squamous cell carcinoma A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease. tmpak2llvmy_mondo_relaxed.owl epidermoid cell carcinoma of vagina|vagina epidermoid carcinoma|epidermoid carcinoma of vagina|squamous cell carcinoma of the vulva/vagina|epidermoid cell carcinoma of the vagina|vaginal epidermoid cell carcinoma|squamous cell carcinoma of the vagina|vaginal epidermoid carcinoma|vagina squamous cell carcinoma|epidermoid carcinoma of the vagina|squamous cell carcinoma of vagina|vaginal squamous cell cancer, NOS|vagina epidermoid cell carcinoma|vaginal squamous cell cancer|vaginal squamous cell carcinoma|carcinoma of vagina squamous cell NCIT:C7736|SCTID:105121000119102|UMLS:C0238518|EFO:1000620|ONCOTREE:VSC owl:Class MONDO:0009543 biolink:NamedThing prominent glabella-microcephaly-hypogenitalism syndrome Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. tmpak2llvmy_mondo_relaxed.owl prominent glabella microcephaly hypogenitalism|MacDermot-Winter syndrome|Mac Dermot Winter syndrome ICD10:Q87.8|UMLS:C0796024|OMIM:247990|MESH:C537714|GARD:0000144|Orphanet:2083 https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome owl:Class GO:0050995 biolink:NamedThing negative regulation of lipid catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpak2llvmy_mondo_relaxed.owl negative regulation of lipid breakdown|negative regulation of lipid catabolism|down regulation of lipid catabolic process|down-regulation of lipid catabolic process|inhibition of lipid catabolic process|negative regulation of lipid degradation|downregulation of lipid catabolic process owl:Class UBERON:0004802 biolink:NamedThing respiratory tract epithelium the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi tmpak2llvmy_mondo_relaxed.owl airway epithelium|epithelial tissue of respiratory tract|respiratory tract epithelial tissue|epithelium of respiratory tract|respiratory epithelium owl:Class UBERON:0004807 biolink:NamedThing respiratory system epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of apparatus respiratorius|apparatus respiratorius epithelium|epithelial tissue of respiratory system|epithelial tissue of apparatus respiratorius|respiratory system epithelial tissue|apparatus respiratorius epithelial tissue|epithelium of respiratory system owl:Class MONDO:0022518 biolink:NamedThing autoimmune inner ear disease A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible. tmpak2llvmy_mondo_relaxed.owl AIED GARD:0008582 owl:Class MONDO:0000587 biolink:NamedThing autoimmune disease of ear, nose and throat An autoimmune form of otorhinolaryngologic disease. tmpak2llvmy_mondo_relaxed.owl autoimmune otorhinolaryngologic disease|autoimmune disease of eyes, ear, nose and throat DOID:0060030 Editor note: ENT typically excludes eye, but the DOID class includes this owl:Class MONDO:0032906 biolink:NamedThing spastic paraplegia 82, autosomal recessive tmpak2llvmy_mondo_relaxed.owl SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE|SPG82 OMIM:618770 owl:Class MONDO:0008941 biolink:NamedThing hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl Thompson-Baraitser syndrome|cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome|Thompson Baraitser syndrome OMIM:213010|MESH:C565867|GARD:0005177|Orphanet:2031 owl:Class MONDO:0019741 biolink:NamedThing familial cystic renal disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cystic kidney disease Orphanet:93587|UMLS:CN206655 owl:Class UBERON:8410009 biolink:NamedThing arteriole of anorectum An arteriole that is located in the anorectum. tmpak2llvmy_mondo_relaxed.owl anorectum arteriole owl:Class NCBITaxon:286 biolink:NamedThing Pseudomonas tmpak2llvmy_mondo_relaxed.owl "Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916)|Liquidomonas|RNA similarity group I|Loefflerella PMID:18048745|PMID:23918787|GC_ID:11|PMID:10758879|PMID:10939664|PMID:7727274|PMID:9103607|PMID:15950132 NCBITaxon:212745 ncbi_taxonomy owl:Class NCBITaxon:135621 biolink:NamedThing Pseudomonadaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0021117 biolink:NamedThing lung neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. tmpak2llvmy_mondo_relaxed.owl neoplasm, lung|tumor of lung|neoplasms, pulmonary|tumor of the lung|neoplasms, lung|lung neoplasms|neoplasm, pulmonary|lung tumor|neoplasm of lung|lung neoplasm (disease)|neoplasm of the lung|lung neoplasm|lung NCIT:C3200|ONCOTREE:LUNG|MESH:D008175 owl:Class HGNC:9816 biolink:NamedThing RAD50 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016401 biolink:NamedThing energy metabolism disorder with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:225696|UMLS:CN226915 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn disorder of energy metabolism' MONDO_0019243 owl:Class MONDO:0001121 biolink:NamedThing frontal sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. tmpak2llvmy_mondo_relaxed.owl ICD10:J32.1|MESH:D015522|SCTID:78737005|DOID:10791|NCIT:C34626|UMLS:C0016735 owl:Class GO:0048512 biolink:NamedThing circadian behavior The specific behavior of an organism that recurs with a regularity of approximately 24 hours. tmpak2llvmy_mondo_relaxed.owl circadian rhythm behavior owl:Class GO:0007623 biolink:NamedThing circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours. tmpak2llvmy_mondo_relaxed.owl circadian process|response to circadian rhythm|circadian response owl:Class UBERON:0004783 biolink:NamedThing gall bladder serosa A serous membrane that is part of a gallbladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl serous membrane of gall bladder|serosa of gall bladder|gallbladder serosa|serous coat of gallbladder|gall bladder serous membrane|tunica serosa (vesica biliaris)|gallbladder serous membrane|tunica serosa vesicae biliaris|biliary serosa|serous membrane of gallbladder|serosa of gallbladder owl:Class MONDO:0008727 biolink:NamedThing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. tmpak2llvmy_mondo_relaxed.owl 3b-hydroxysteroid dehydrogenase deficiency|HSD3B deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-Beta-HSD deficiency|adrenal hyperplasia II|type II 3-beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia 2|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF|3-beta HSD deficiency|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency GARD:0009152|OMIM:201810|SCTID:54470008|ICD10:E25.0|MESH:C538236|Orphanet:90791|NCIT:C131088 owl:Class MONDO:0017087 biolink:NamedThing neurenteric cyst tmpak2llvmy_mondo_relaxed.owl Orphanet:268865 owl:Class MONDO:0018075 biolink:NamedThing neural tube defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. tmpak2llvmy_mondo_relaxed.owl spinal dysraphism|NTD SCTID:253098009|NCIT:C84923|ICD9:742.8|Orphanet:3388|DOID:0080074|MESH:D009436 owl:Class GO:0070009 biolink:NamedThing serine-type aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004177 biolink:NamedThing aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000233 biolink:NamedThing platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. tmpak2llvmy_mondo_relaxed.owl anucleate thrombocyte|enucleate thrombocyte|blood platelet CALOHA:TS-0803|BTO:0000132|FMA:62851 Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. cell owl:Class CL:0000763 biolink:NamedThing myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0647|BTO:0001441 cell owl:Class MONDO:0007948 biolink:NamedThing marfanoid hypermobility syndrome tmpak2llvmy_mondo_relaxed.owl marfanoid hypermobility syndrome UMLS:C0268365|GARD:0003387|OMIM:154750|MESH:C531742 https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome owl:Class UBERON:0005116 biolink:NamedThing metanephric descending thin limb It extends to the tip of the metanephric loop of Henle[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005096 biolink:NamedThing descending thin limb The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. tmpak2llvmy_mondo_relaxed.owl loop of Henle descending thin limb|pars descendens (tubulus attenuatus)|loop of Henle thin descending limb|thin descending limb|thin descending limb of the loop of Henle|descending thin limb of loop of Henle|thin descending loop of Henle|descending limb of loop of Henle|thin descending limb of loop of Henle|descending limb of Henle's loop owl:Class MONDO:0006157 biolink:NamedThing colorectal adenosquamous carcinoma An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpak2llvmy_mondo_relaxed.owl colorectal adenosquamous carcinoma|colorectal (colon or rectal) adenosquamous cancer|colorectum adenosquamous carcinoma|colorectal adenosquamous cancer NCIT:C43589|UMLS:C1707437|EFO:1000190 owl:Class MONDO:0004682 biolink:NamedThing retromolar area cancer A malignant form of neoplasm of retromolar area. tmpak2llvmy_mondo_relaxed.owl neoplasm of retromolar area, malignant|malignant tumor of retromolar area|malignant neoplasm of retromolar area SCTID:363391009|DOID:8930|ICD10:C06.2|ICD9:145.6 owl:Class GO:0015108 biolink:NamedThing chloride transmembrane transporter activity Enables the transfer of chloride ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl chloride transporting ATPase activity|chloride ABC transporter|chloride-transporting ATPase activity|ATPase-coupled chloride transmembrane transporter activity|ATP-dependent chloride transmembrane transporter activity|chloride ion transmembrane transporter activity owl:Class MONDO:0054832 biolink:NamedThing corneal dystrophy, posterior polymorphous, 4 tmpak2llvmy_mondo_relaxed.owl PPCD4|corneal dystrophy, POSTERIOR polymorphous, 4 UMLS:CN248531|OMIM:618031 owl:Class MONDO:0020364 biolink:NamedThing posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. tmpak2llvmy_mondo_relaxed.owl PPCD|posterior polymorphous dystrophy|hereditary polymorphus posterior corneal dystrophy|Schlichting dystrophy|corneal dystrophy, posterior polymorphous OMIMPS:122000|DOID:0060457|Orphanet:98973|UMLS:CN239252|ICD10:H18.5 owl:Class MONDO:0021102 biolink:NamedThing prostate phyllodes tumor An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. tmpak2llvmy_mondo_relaxed.owl prostate gland phyllodes tumor|malignant phyllodes tumor of prostate (subtype)|phyllodes neoplasm of prostate|prostate cystosarcoma phyllodes|cystosarcoma phyllodes of the prostate|phyllodes tumor of prostate|prostate phyllodes tumor|phyllodes neoplasm of the prostate|prostate phyllodes neoplasm|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate GARD:0009404|NCIT:C7574|UMLS:C1335409|Orphanet:498228 owl:Class MONDO:0005078 biolink:NamedThing phyllodes tumor A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. tmpak2llvmy_mondo_relaxed.owl phyllodes neoplasm|phyllodes tumor|cystosarcoma phyllodes|CSP NCIT:C2977|MESH:D003557|EFO:0000653 Note that this class covers both breast and prostate phyllodes tumors owl:Class NCBITaxon:181550 biolink:NamedThing Trichomonadidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003582 biolink:NamedThing hereditary breast ovarian cancer syndrome An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. tmpak2llvmy_mondo_relaxed.owl BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|HBOC syndrome|familial breast/ovarian cancer (BRCA1, BRCA2)|hereditary breast/ovarian cancer (BRCA1, BRCA2)|hereditary breast and ovarian cancer syndrome|hereditary breast and ovarian cancer|hereditary breast ovarian cancer|familial breast and ovarian cancer syndrome|HBOC syndromes|syndrome, HBOC|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to|syndromes, HBOC UMLS:C0677776|SCTID:718220008|GARD:0012352|MESH:D061325|Orphanet:145|OMIMPS:604370|DOID:5683|NCIT:C8493|ICD10:C50|ICD10:C56|GARD:0012351 Editor note: https://github.com/monarch-initiative/mondo/issues/84 owl:Class UBERON:0000019 biolink:NamedThing camera-type eye An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. tmpak2llvmy_mondo_relaxed.owl camera-type eye plus associated structures|orbital region|eye|orbital part of face|regio orbitalis|eyes|vertebrate eye owl:Class UBERON:0000047 biolink:NamedThing simple eye An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006355 biolink:NamedThing superior vesical vein tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002460 biolink:NamedThing vesical vein A tributary of the iliac vein that drains the urinary bladder. tmpak2llvmy_mondo_relaxed.owl vesical veins set|vesical veins|venae vesicales owl:Class GO:2000860 biolink:NamedThing positive regulation of aldosterone secretion Any process that activates or increases the frequency, rate or extent of aldosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000857 biolink:NamedThing positive regulation of mineralocorticoid secretion Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018077 biolink:NamedThing tularemia Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. tmpak2llvmy_mondo_relaxed.owl Yatobyo (Japan)|lemming fever|Francisella tularensis disease or disorder|rabbit fever|Francisella tularensis caused disease or disorder|Francisella tularensis infectious disease|Pahvant Valley plague|Francisella tularensis infection|Deerfly fever|Ohara disease DOID:2123|ICD10:A21.7|ICD10:A21|GARD:0000396|ICD10:A21.0|ICD10:A21.1|ICD9:021.8|SCTID:19265001|ICD10:A21.8|ICD9:021.9|EFO:1001444|Orphanet:3392|MedDRA:10045146|ICD10:A21.2|ICD10:A21.9|UMLS:C0041351|NCIT:C85208|MESH:D014406|ICD10:A21.3 https://rarediseases.info.nih.gov/diseases/396/tularemia owl:Class GO:0006974 biolink:NamedThing cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. tmpak2llvmy_mondo_relaxed.owl response to genotoxic stress|DNA damage response|cellular DNA damage response|response to DNA damage stimulus owl:Class GO:0033554 biolink:NamedThing cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008048 biolink:NamedThing autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpak2llvmy_mondo_relaxed.owl myopathy, centronuclear, type 1|centronuclear myopathy, autosomal dominant|AD-CNM|centronuclear myopathy 1|myotubular myopathy, autosomal dominant|myopathy, centronuclear, 1|autosomal dominant centronuclear myopathy|DNM2-related centronuclear myopathy|myopathy, centronuclear, autosomal dominant|CNM1 GARD:0012719|SCTID:716696006|ICD10:G71.2|UMLS:C1834558|OMIM:160150|Orphanet:169189|DOID:0111217|NCIT:C126689 https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy owl:Class MONDO:0002921 biolink:NamedThing congenital structural myopathy A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. tmpak2llvmy_mondo_relaxed.owl centronuclear myopathy DOID:422|UMLS:C0752282|NCIT:C84648|MESH:D020914 owl:Class MONDO:0032866 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 10 tmpak2llvmy_mondo_relaxed.owl CDCBM10|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 OMIM:618677 owl:Class HGNC:9509 biolink:NamedThing PSEN2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045250 biolink:NamedThing cytosolic pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class GO:0045254 biolink:NamedThing pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide)|dihydrolipoyl dehydrogenase complex owl:Class HGNC:16068 biolink:NamedThing PCNT tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3642 biolink:NamedThing FDXR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022876 biolink:NamedThing Cortes Lacassie syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001547 https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome owl:Class MONDO:0005100 biolink:NamedThing systemic sclerosis A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. tmpak2llvmy_mondo_relaxed.owl SSc|Scleroderma|PSS (progressive systemic sclerosis)|Scleroderma syndrome|Scleroderma (& [systemic sclerosis])|diffuse sclerosis|Scleroderma, diffuse|systemic Scleroderma|SSc, diffuse sclerosis|Scleroderma, systemic|diffuse Scleroderma|systemic scleroderma|progressive systemic sclerosis|systemic sclerosis SCTID:89155008|ICD10:M34.1|GARD:0009748|DOID:418|MESH:D012595|UMLS:CN206012|ICD10:M34.9|NCIT:C72070|Orphanet:90291|MedDRA:10042953|ICD10:M34.8|ICD10:M34.2|ICD9:710.1|ICD10:M34.0|EFO:0000717 owl:Class MONDO:0030701 biolink:NamedThing autoimmune cardiomyopathy An autoimmune form of cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl DOID:0040095 owl:Class UBERON:0005185 biolink:NamedThing renal medulla collecting duct The portion of the collecting duct that resides in the renal medulla tmpak2llvmy_mondo_relaxed.owl medullary collecting duct|kidney medulla collecting duct owl:Class UBERON:0013522 biolink:NamedThing subdivision of tube tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010396 biolink:NamedThing developmental and epileptic encephalopathy, 2 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. tmpak2llvmy_mondo_relaxed.owl EIEE2|epileptic encephalopathy, early infantile, 2|infantile spasm syndrome, X-linked 2|epileptic encephalopathy, early infantile, type 2|early infantile epileptic encephalopathy caused by mutation in CDKL5|CDKL5 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy, 2|DEE2 DOID:0080467|UMLS:C1839333|ICD10:G40.4|Orphanet:505652|OMIM:300672|MESH:C564064 owl:Class MONDO:0018097 biolink:NamedThing West syndrome West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. tmpak2llvmy_mondo_relaxed.owl Infantile spasms syndrome|infantile spasms|X-linked infantile spasm syndrome|X-linked infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|intellectual disability-hypsarrhythmia syndrome|West's syndrome UMLS:C0037769|ICD10:G40.4|GARD:0007887|MedDRA:10021750|DOID:0050562|SCTID:28055006|NCIT:C84788|ICD9:348.89|ICD9:345.60|Orphanet:3451 Editor note: check placement of OMIM IDs and EIEE subtypes owl:Class MONDO:0018523 biolink:NamedThing pancreatic mucinous cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. tmpak2llvmy_mondo_relaxed.owl colloidal cystadenoma of the pancreas|pancreatic mucinous cystadenoma|pancreas mucinous cystadenoma|colloid cystadenoma of the pancreas|colloidal cystadenoma of pancreas|colloid cystadenoma of pancreas|mucinous cystadenoma of pancreas|pancreatic mucinous cystadenocarcinoma|mucinous cystadenoma of the pancreas|mucinous cystadenocarcinoma of the pancreas|pancreatic colloidal cystadenoma|pancreatic colloid cystadenoma|pancreatic mucinous cystic neoplasm ICD10:C25.0|DOID:7735|ICD10:C25.7|ICD10:C25.2|NCIT:C5718|DOID:7235|ICD10:C25.8|Orphanet:424053|ICD10:C25.1 MONDO:0004347 owl:Class MONDO:0020596 biolink:NamedThing mucin-producing carcinoma tmpak2llvmy_mondo_relaxed.owl mucin-producing carcinoma NCIT:C27825 owl:Class UBERON:0014478 biolink:NamedThing rib skeletal system Subdivision of skeletal system that consists of all ribs and rib joints in an organism. In many vertebrates this consists of the combination of the rib cage and all rib joints, but some vertebrates have ribs outside the thoracic rib cage. tmpak2llvmy_mondo_relaxed.owl rib series|set of all ribs|rib skeleton owl:Class GO:0045986 biolink:NamedThing negative regulation of smooth muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction. tmpak2llvmy_mondo_relaxed.owl smooth muscle relaxation|down-regulation of smooth muscle contraction|inhibition of smooth muscle contraction|downregulation of smooth muscle contraction|down regulation of smooth muscle contraction owl:Class MONDO:0003381 biolink:NamedThing pituitary gland disease A disease involving the pituitary gland. tmpak2llvmy_mondo_relaxed.owl disease or disorder of pituitary gland|pituitary disease|pituitary gland disease or disorder|pituitary gland disorder|disease of pituitary gland|pituitary gland disease|disorder of pituitary gland SCTID:399244003|ICD9:253.1|NCIT:C26854|ICD9:253.9|ICD9:253.8|MESH:D010900|DOID:53 owl:Class MONDO:0100070 biolink:NamedThing neuroendocrine disease A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. tmpak2llvmy_mondo_relaxed.owl neuroendocrine system disease 2018-12-17 22:24:52+00:00 owl:Class MONDO:0016717 biolink:NamedThing choroid plexus neoplasm An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. tmpak2llvmy_mondo_relaxed.owl choroid plexus tumor|tumor of the choroid plexus|choroid plexus neoplasm|tumor of choroid plexus|neoplasm of choroid plexus|neoplasm of the choroid plexus NCIT:C3473|Orphanet:251896|ONCOTREE:CPT|SCTID:254942002|UMLS:C0085138 Editor note: see ticket on ncit tracker MONDO:0021226 owl:Class MONDO:0021211 biolink:NamedThing brain neoplasm A neoplasm (disease) that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain tumor|brain neoplasm (disease)|neoplasm of the brain|neoplasm of brain|tumor of the Brain|brain neoplasms|tumor of brain NCIT:C2907 owl:Class MONDO:0004789 biolink:NamedThing cholangitis An acute or chronic inflammatory process affecting the biliary tract. tmpak2llvmy_mondo_relaxed.owl biliary tract infection|biliary tree inflammation|inflammation of biliary tree|cholangitis ICD9:576.1|ICD10:K83.0|MESH:D002761|SCTID:82403002|DOID:9446|NCIT:C26718|UMLS:C0008311 owl:Class HGNC:21406 biolink:NamedThing RARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001305 biolink:NamedThing Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. tmpak2llvmy_mondo_relaxed.owl Dandy-Walker cyst|Dandy-walker anomaly MSH:D003616|UMLS:C0010964|SNOMEDCT_US:14447001 HP:0001313|HP:0006809 human_phenotype owl:Class HP:0002350 biolink:NamedThing Cerebellar cyst tmpak2llvmy_mondo_relaxed.owl Cerebellar cysts UMLS:C1847762 human_phenotype owl:Class MONDO:0020298 biolink:NamedThing Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 tmpak2llvmy_mondo_relaxed.owl Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15|UPD(15)mat Orphanet:98754|ICD10:Q87.1|UMLS:CN207093 owl:Class MONDO:0020056 biolink:NamedThing uniparental disomy of maternal origin tmpak2llvmy_mondo_relaxed.owl ICD10:Q99.8|SCTID:726401004|Orphanet:98153 owl:Class CHEBI:83056 biolink:NamedThing Daphnia magna metabolite A Daphnia metabolite produced by the species Daphnia magna. tmpak2llvmy_mondo_relaxed.owl Daphnia magna metabolites owl:Class CHEBI:83057 biolink:NamedThing Daphnia metabolite A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia tmpak2llvmy_mondo_relaxed.owl Daphnia metabolites owl:Class GO:0052547 biolink:NamedThing regulation of peptidase activity Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl peptidase regulator activity owl:Class GO:0030162 biolink:NamedThing regulation of proteolysis Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpak2llvmy_mondo_relaxed.owl regulation of peptidolysis owl:Class MONDO:0012990 biolink:NamedThing Leber congenital amaurosis 13 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene. tmpak2llvmy_mondo_relaxed.owl LCA13|Leber congenital amaurosis caused by mutation in RDH12|RDH12 Leber congenital amaurosis|Leber congenital amaurosis type 13|Leber congenital amaurosis 13|retinitis pigmentosa 53 DOID:0110330|MESH:C567197|OMIM:612712|GARD:0010882|ICD10:H35.5|UMLS:C2675186 https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13 owl:Class UBERON:0003539 biolink:NamedThing left lung bronchiole A bronchiole that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lobular bronchiole of left lung|bronchiole of left lung|left lung lobular bronchiole owl:Class UBERON:0002186 biolink:NamedThing bronchiole the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching tmpak2llvmy_mondo_relaxed.owl bronchiolus|lobular bronchiole|bronchioli owl:Class CHEBI:23341 biolink:NamedThing cobamides tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:23390 biolink:NamedThing cobalt-corrinoid hexaamide tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002191 biolink:NamedThing syringoma A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. tmpak2llvmy_mondo_relaxed.owl eccrine syringoma|syringoma DOID:2065|UMLS:C0206673|MESH:D018252|GARD:0010547|ICDO:8407/0|NCIT:C3761|SCTID:302828001 owl:Class MONDO:0002381 biolink:NamedThing sweat gland neoplasm A benign or malignant neoplasm arising from the sweat glands. tmpak2llvmy_mondo_relaxed.owl tumor of the sweat gland|sweat gland tumor NOS (morphologic abnormality)|tumor of sweat gland|sweat gland neoplasm (disease)|sweat gland tumor|sweat gland neoplasm|sweat gland neoplasms|neoplasm of the sweat gland|sweat gland tumor (morphologic abnormality)|neoplasm of sweat gland SCTID:126490003|MESH:D013544|UMLS:C0038987|NCIT:C3398|ICD9:239.2|EFO:1001204|ICDO:8400/1|DOID:2664 MONDO:0021219 owl:Class MONDO:0014824 biolink:NamedThing craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl developmental delay-short stature-dysmorphic features-sparse hair syndrome|developmental delay with short stature, dysmorphic features, and sparse hair|Loucks-Innes syndrome|DEDSSH UMLS:C4310801|OMIM:616901|Orphanet:459061 owl:Class UBERON:0014770 biolink:NamedThing palpebral artery An artery that supplies blood to an eyelid. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005061 biolink:NamedThing neural groove The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000280 biolink:NamedThing smooth muscle cell of colon A smooth muscle cell that is part of the colon. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of colon FMA:15663 cell owl:Class MONDO:0018776 biolink:NamedThing demyelinating hereditary motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl demyelinating HMSN|demyelinating hereditary motor and sensory neuropathy Orphanet:476116 owl:Class MONDO:0015358 biolink:NamedThing hereditary motor and sensory neuropathy A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) tmpak2llvmy_mondo_relaxed.owl HMSN SCTID:398100001|GARD:0012685|Orphanet:140450|ICD10:G60.0|MESH:D015417 owl:Class GO:0002461 biolink:NamedThing tolerance induction dependent upon immune response Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. tmpak2llvmy_mondo_relaxed.owl immune response-dependent tolerance induction owl:Class GO:0002507 biolink:NamedThing tolerance induction A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0025142 biolink:NamedThing Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. tmpak2llvmy_mondo_relaxed.owl 2016-11-29 11:02:54+00:00 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. HPO:probinson human_phenotype owl:Class MONDO:0007924 biolink:NamedThing Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. tmpak2llvmy_mondo_relaxed.owl Bannayan-Riley-Ruvalcaba syndrome|Bannayan-Zonana syndrome|Ruvalcaba-MYHRE-SMITH syndrome|macrocephaly pseudopapilledema and multiple hemangiomas|macrocephaly with multiple lipomas and hemangiomas|RMSS|Ruvalcaba-Myhre-Smith syndrome|macrocephaly multiple lipomas and hemangiomata|Bannayan syndrome|BRRS|Bannayan-RILEY-Ruvalcaba syndrome|BZS|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|Ruvalcaba -Myhre-Smith syndrome|macrocephaly, multiple lipomas, and hemangiomata|Riley-Smith syndrome Orphanet:109|OMIM:153480|UMLS:C0265326|SCTID:21984008|ICD9:759.6|NCIT:C3939|GARD:0005887|ICD10:Q87.8|DOID:0050657 https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome owl:Class MONDO:0019963 biolink:NamedThing bronchial endocrine tumor A neuroendocrine neoplasm that involves the bronchus. tmpak2llvmy_mondo_relaxed.owl bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|bronchus NET|neuroendocrine neoplasm of bronchus|bronchus neuroendocrine tumor|bronchus neuroendocrine neoplasm|bronchial neuroendocrine tumor|bronchial NET UMLS:CN206886|ICD10:D38.1|Orphanet:97287 owl:Class MONDO:0002807 biolink:NamedThing bronchial neoplasm Tumors or cancer of the bronchi. tmpak2llvmy_mondo_relaxed.owl bronchus neoplasm|bronchus tumor|neoplasm of bronchus|bronchus neoplasm (disease)|bronchial neoplasm|tumor of bronchus|bronchial neoplasm (disease) bronchial neoplasm (disease) MESH:D001984|SCTID:126705004|DOID:3906|HP:0030077|UMLS:C0006264|EFO:1000849 owl:Class CHEBI:78017 biolink:NamedThing food propellant A propellant that is used to expel foods from an aerosol container. tmpak2llvmy_mondo_relaxed.owl food propellants owl:Class CHEBI:76414 biolink:NamedThing propellant A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. tmpak2llvmy_mondo_relaxed.owl propellants owl:Class MONDO:0014794 biolink:NamedThing Meier-Gorlin syndrome 6 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. tmpak2llvmy_mondo_relaxed.owl MGORS6|GMNN Meier-Gorlin syndrome|Meier-GORLIN syndrome 6|Meier-Gorlin syndrome caused by mutation in GMNN|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome 6 UMLS:C4225188|OMIM:616835|DOID:0080517 owl:Class MONDO:0016817 biolink:NamedThing Meier-Gorlin syndrome Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). tmpak2llvmy_mondo_relaxed.owl ear-patella-short stature syndrome|Meier-Gorlin syndrome MedDRA:10070612|Orphanet:2554|MESH:C538012|OMIMPS:224690|DOID:0060306|GARD:0002033|ICD10:Q87.1 owl:Class UBERON:0006215 biolink:NamedThing rhombic lip the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system tmpak2llvmy_mondo_relaxed.owl cerebellum primordium|cerebellar primordium|cerebellar anlage|dorsal part of alar plate of metencephalon|presumptive cerebellum|rostral rhombic lip|future cerebellum owl:Class MONDO:0100243 biolink:NamedThing inherited paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary paroxysmal nocturnal hemoglobinuria OMIMPS:300818 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011304 biolink:NamedThing cerebral cavernous malformation 2 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. tmpak2llvmy_mondo_relaxed.owl CCM2|cerebral cavernous malformation 2|cerebral cavernous malformation type 2|CCM2 familial cerebral cavernous malformation|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations 2|cerebral cavernous malformations type 2 MESH:C566394|OMIM:603284|DOID:0060670|ICD10:Q28.3|UMLS:C1864041 owl:Class MONDO:0031037 biolink:NamedThing famililal cerebral cavernous malformations A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. tmpak2llvmy_mondo_relaxed.owl cavernous angioma, familial|hereditary brain cavernous angioma|familial brain cavernous hemangioma|cavernous angiomatous malformations|CCM|familial cerebral cavernous malformation|familial cerebral cavernoma|cerebral capillary malformations|famililal cerebral cavernous malformations|hereditary brain cavernous hemangioma|cavernous malformations of CNS and retina|cerebral cavernous malformations|hereditary cerebral cavernoma|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|hereditary cerebral cavernous malformation|familial brain cavernous angioma OMIMPS:116860|SCTID:717003001|UMLS:C2931263|ICD10:Q28.3|Orphanet:221061 owl:Class HP:0031409 biolink:NamedThing Abnormal lymphocyte physiology Any anomaly of lymphocyte function. tmpak2llvmy_mondo_relaxed.owl 2017-09-04 12:08:45+00:00 peter human_phenotype owl:Class HP:0033796 biolink:NamedThing Abnormal leukocyte physiology A functional abnormality of a white blood cell. tmpak2llvmy_mondo_relaxed.owl 2021-05-08 13:50:44+00:00 peter human_phenotype owl:Class MONDO:0006963 biolink:NamedThing sebaceous gland neoplasm A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. tmpak2llvmy_mondo_relaxed.owl sebaceous gland neoplasm|sebaceous gland neoplasm (disease)|sebaceous neoplasm|sebaceous tumor|neoplasm of sebaceous gland|tumor of sebaceous gland|sebaceous gland tumor NCIT:C3363|UMLS:C3805742|SCTID:126491004|ICD9:239.2|EFO:1001172|DOID:5759|MESH:D012626|UMLS:C0036503 owl:Class CHEBI:15036 biolink:NamedThing retinoate tmpak2llvmy_mondo_relaxed.owl retinoate|3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate owl:Class CHEBI:139589 biolink:NamedThing retinoid anion A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group. tmpak2llvmy_mondo_relaxed.owl retinoid carboxylic acid anions|retinoid carboxylate anions|retinoate|retinoid carboxylic acid anion|retinoid carboxylate anion|retinoid anions|retinoates owl:Class CHEBI:16393 biolink:NamedThing sphingosine A sphing-4-enine in which the double bond is trans. tmpak2llvmy_mondo_relaxed.owl (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|Sphingenine|C18 sphingosine|Sphing-4-enine|(E)-D-erythro-4-octadecene-1,3-diol|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|Sphingosine|(4E)-sphingenine|(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|2-amino-4-octadecene-1,3-diol|Sphingoid|trans-4-sphingenine|trans-D-erythro-2-amino-4-octadecene-1,3-diol|Sphingosine d18:1|(4E)-sphing-4-enine|D-erythro-sphingosine|Sph|(E)-2-amino-4-octadecan-1,3-diol|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|sphingosin owl:Class CHEBI:26743 biolink:NamedThing sphing-4-enine A sphingenine in which the C=C double bond is located at the 4-position. tmpak2llvmy_mondo_relaxed.owl 4-sphingenine|(2S,3R)-2-aminooctadec-4-ene-1,3-diol|sphing-4-enine owl:Class MONDO:0017276 biolink:NamedThing frontotemporal dementia Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. tmpak2llvmy_mondo_relaxed.owl Wilhemsen-Lynch disease|multiple system tauopathy with presenile dementia|frontotemporal lobe dementia (FLDEM)|FTD|frontotemporal lobar degeneration|pallidopontonigral degeneration|MSTD MESH:D057180|GARD:0008436|DOID:9255|NCIT:C84719|UMLS:C0520716|UMLS:C0338451|MedDRA:10068968|Orphanet:282|ICD10:G31.0 owl:Class HGNC:19963 biolink:NamedThing TTLL5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002655 biolink:NamedThing cutaneous Paget disease A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl cutaneous Paget disease|zone of skin Paget disease|cutaneous Paget's disease|extramammary Paget's disease DOID:3450 owl:Class MONDO:0012532 biolink:NamedThing hereditary hemorrhagic telangiectasia type 4 tmpak2llvmy_mondo_relaxed.owl telangiectasia, hereditary hemorrhagic, type 4|HHT4 MESH:C565691|GARD:0010615|OMIM:610655 https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 owl:Class MONDO:0019180 biolink:NamedThing hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. tmpak2llvmy_mondo_relaxed.owl telangiectasia, hereditary Hemorrahagic, of Rendu, Osler|Rendu-Osler-Weber disease|hereditary hemorrhagic telangiectasia|Osler hemorrhagic telangiectasia syndrome|Rendu-Osler disease|telangiectasia, hereditary hemorrhagic|Osler-Weber-Rendu disease|HHT ICD9:448.0|DOID:1270|GARD:0006626|MedDRA:10019883|Orphanet:774|MESH:D013683|NCIT:C35064|UMLS:C0039445|SCTID:21877004|OMIMPS:187300|ICD10:I78.0 owl:Class GO:0030057 biolink:NamedThing desmosome A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. tmpak2llvmy_mondo_relaxed.owl spot desmosome|macula adherens owl:Class GO:0005911 biolink:NamedThing cell-cell junction A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. tmpak2llvmy_mondo_relaxed.owl intercellular junction owl:Class MONDO:0012031 biolink:NamedThing platelet-type bleeding disorder 10 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. tmpak2llvmy_mondo_relaxed.owl bleeding disorder, Platelet-type, 10|CD36 deficiency|platelet-type bleeding disorder 10|BDPLT10|inherited bleeding disorder, platelet-type caused by mutation in CD36|platelet glycoprotein IV deficiency|platelet glycoprotein 4 deficiency|CD36 inherited bleeding disorder, platelet-type DOID:0111046|OMIM:608404|MESH:C564245|UMLS:C1842090 owl:Class UBERON:0010400 biolink:NamedThing spleen trabecular vein one of the veins that feed the splenic vein tmpak2llvmy_mondo_relaxed.owl trabecular vein owl:Class UBERON:0013126 biolink:NamedThing vein of abdomen A vein that is part of a abdomen. tmpak2llvmy_mondo_relaxed.owl abdominal vein owl:Class MONDO:0004785 biolink:NamedThing blepharitis Inflammation of the eyelids near the eyelashes. tmpak2llvmy_mondo_relaxed.owl eyelid inflammation|inflammation of eyelid NCIT:C112183|ICD9:373.4|ICD9:373.00|SCTID:41446000|ICD10:H01.00|MESH:D001762|ICD10:H01.9|ICD9:373.8|ICD9:373.9|ICD10:H01.0|ICD9:373.0|DOID:9423|UMLS:C0005741 owl:Class MONDO:0000374 biolink:NamedThing bile duct carcinoma in situ A carcinoma in situ involving a bile duct. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of bile duct|stage 0 bile duct carcinoma|bile duct in situ carcinoma DOID:0050613 owl:Class MONDO:0004715 biolink:NamedThing liver carcinoma in situ A carcinoma in situ involving a liver. tmpak2llvmy_mondo_relaxed.owl stage 0 liver carcinoma|carcinoma in situ of liver, gallbladder and bile ducts|carcinoma in situ of liver|liver in situ carcinoma|carcinoma in situ of liver and biliary system SCTID:92644006|ICD9:230.8|DOID:9132|UMLS:C0345908|ICD10:D01.5 owl:Class GO:0006897 biolink:NamedThing endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpak2llvmy_mondo_relaxed.owl nonselective vesicle endocytosis|endocytic import into cell|plasma membrane invagination|vesicle endocytosis owl:Class GO:0016192 biolink:NamedThing vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. tmpak2llvmy_mondo_relaxed.owl protein sorting along secretory pathway|vesicle trafficking|nonselective vesicle transport|vesicular transport|vesicle transport owl:Class MONDO:0022792 biolink:NamedThing coccygodynia Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. tmpak2llvmy_mondo_relaxed.owl coccydynia GARD:0005168 https://rarediseases.info.nih.gov/diseases/5168/coccygodynia owl:Class MONDO:0013975 biolink:NamedThing ectodermal dysplasia 7, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. tmpak2llvmy_mondo_relaxed.owl ECTD7|KRT74 pure hair and nail ectodermal dysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT74|ectodermal dysplasia 7, hair/nail type UMLS:C3554117|DOID:0111660|OMIM:614929 owl:Class MONDO:0019071 biolink:NamedThing pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl PHNED|HNED|hair-nail ectodermal dysplasia Orphanet:69084|DOID:0111655 owl:Class UBERON:0001471 biolink:NamedThing skin of prepuce of penis the loose fold of skin that covers the penis tmpak2llvmy_mondo_relaxed.owl foreskin of penis|preputial skin|penis foreskin owl:Class UBERON:0005884 biolink:NamedThing hyoid arch skeleton A subdivision of skeleton that supports pharyngeal arch 2. tmpak2llvmy_mondo_relaxed.owl visceral arch 2|hyoid bars|pharyngeal arch 2 skeleton|hyoid arch skeleton|hyoid arch owl:Class UBERON:0010011 biolink:NamedThing collection of basal ganglia Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum. tmpak2llvmy_mondo_relaxed.owl cerebral nuclei|basal ganglia|basal nuclei (basal ganglia)|set of basal ganglia|basal ganglia set|basal nuclei|set of basal nuclei|subcortical nuclei owl:Class UBERON:0010009 biolink:NamedThing aggregate regional part of brain A regional part of brain consisting of multiple brain regions that are not related through a simple volummetric part of hierarchy, e.g., basal ganglia[NIF]. tmpak2llvmy_mondo_relaxed.owl set of nuclei of neuraxis owl:Class MONDO:0015749 biolink:NamedThing 6q16 deletion syndrome Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. tmpak2llvmy_mondo_relaxed.owl monosomy 6q16|Prader-Willi-like syndrome due to deletion 6q16|Del(6)(q16) ICD10:Q93.5|UMLS:CN200301|Orphanet:171829 owl:Class UBERON:0010545 biolink:NamedThing metatarsus skeleton Limb segment that consists of the long bones of the pes. The metatarsals are analogous to the metacarpal bones of the manus. tmpak2llvmy_mondo_relaxed.owl set of metatarsal bones|ossa metatarsalia|metatarsalia|skeleton of metatarsus|set of metatarsals [I-V]|ossa metatarsi[I-V]|metatarsal skeleton|posterior metapodial skeleton|posterior metapodium|metatarsals [I-V]|metatarsal bones set|ossa metatarsalia [I-V] owl:Class UBERON:0009022 biolink:NamedThing right uterine horn An uterine horn that is in the right side of a uterus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002247 biolink:NamedThing uterine horn either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures tmpak2llvmy_mondo_relaxed.owl cornu uteri owl:Class MONDO:0003154 biolink:NamedThing hemangioma of peripheral nerve A hemangioma arising from the peripheral nerves. tmpak2llvmy_mondo_relaxed.owl hemangioma of nerve|nerve hemangioma|hemangioma of peripheral nerve NCIT:C27507|DOID:482|UMLS:C1333956 owl:Class MONDO:0056804 biolink:NamedThing benign neoplasm of peripheral nervous system tmpak2llvmy_mondo_relaxed.owl DOID:0080320 owl:Class GO:0050912 biolink:NamedThing detection of chemical stimulus involved in sensory perception of taste The series of events involved in the perception of taste in which a gustatory chemical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of taste, sensory detection of chemical stimulus|sensory detection of chemical stimulus during perception of taste|perception of taste, sensory transduction of chemical stimulus|sensory transduction of chemical stimulus during perception of taste|sensory transduction of taste|taste perception|perception of taste, detection of chemical stimulus|sensory detection of taste owl:Class GO:0009593 biolink:NamedThing detection of chemical stimulus The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of chemical stimulus|chemoreception|detection of chemical substance|chemoperception|perception of chemical substance owl:Class CHEBI:36347 biolink:NamedThing nuclear particle A nucleus or any of its constituents in any of their energy states. tmpak2llvmy_mondo_relaxed.owl nuclear particle owl:Class CHEBI:36342 biolink:NamedThing subatomic particle A particle smaller than an atom. tmpak2llvmy_mondo_relaxed.owl subatomic particles owl:Class CL:0002073 biolink:NamedThing transitional myocyte Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes. tmpak2llvmy_mondo_relaxed.owl FMA:67142 tmeehan 2010-06-29T02:39:32Z cell owl:Class CL:0002086 biolink:NamedThing specialized cardiac myocyte A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart. tmpak2llvmy_mondo_relaxed.owl FMA:67968 tmeehan 2010-07-21T01:33:38Z cell owl:Class GO:1900450 biolink:NamedThing negative regulation of glutamate receptor signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl inhibition of glutamate signaling pathway|down regulation of glutamate signaling pathway|downregulation of glutamate receptor signaling pathway|downregulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|negative regulation of glutamate signaling pathway|down-regulation of glutamate signaling pathway|downregulation of glutamate signalling pathway|down-regulation of glutamate receptor signaling pathway|inhibition of glutamate receptor signaling pathway|inhibition of glutamate signalling pathway|down-regulation of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|negative regulation of glutamate signalling pathway owl:Class MONDO:0004195 biolink:NamedThing thymic dysplasia The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. tmpak2llvmy_mondo_relaxed.owl UMLS:C1331541|DOID:7350|NCIT:C27802 owl:Class MONDO:0003393 biolink:NamedThing thymus gland disease A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. tmpak2llvmy_mondo_relaxed.owl disease or disorder of thymus|thymus disorder|thymus disease or disorder|disease of thymus|disorder of thymus|disorder of thymus gland|Thymus disorder|thymus disease|disease of thymus gland NCIT:C26962|ICD10:E32|SCTID:20673009|ICD10:E32.9|DOID:533|ICD9:254.9|UMLS:C0154199|ICD9:254 owl:Class HGNC:10818 biolink:NamedThing SGSH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003616 biolink:NamedThing bronchus elastic tissue An elastic tissue that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl elastic tissue of bronchus|elastic connective tissue of bronchial trunk|textus connectivus elasticus of bronchi|bronchus textus connectivus elasticus|bronchus elastic connective tissue|elastic connective tissue of bronchi|bronchi elastic connective tissue|bronchial trunk elastic connective tissue|elastic tissue of bronchi|bronchial trunk elastic tissue|bronchi elastic tissue|textus connectivus elasticus of bronchus|textus connectivus elasticus of bronchial trunk|bronchi textus connectivus elasticus|elastic tissue of bronchial trunk|elastic connective tissue of bronchus|bronchial trunk textus connectivus elasticus owl:Class UBERON:0002521 biolink:NamedThing elastic tissue Connective tissue composed of elastic fibers. tmpak2llvmy_mondo_relaxed.owl elastic connective tissue|elastic fiber|textus connectivus elasticus owl:Class MONDO:0021450 biolink:NamedThing benign neoplasm of heart A benign neoplasm that involves the heart. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the heart|benign heart tumor|benign tumor of the heart|heart benign neoplasm|benign heart neoplasm|benign Cardiac tumor|benign tumor of heart|benign Cardiac neoplasm ICD10:D15.1|ICD9:212.7|NCIT:C3605|SCTID:92132009|UMLS:C0153957 owl:Class MONDO:0021209 biolink:NamedThing heart neoplasm A neoplasm (disease) that involves the heart. tmpak2llvmy_mondo_relaxed.owl primary cardiac tumors, childhood|neoplasm of heart|Intracavitary tumors|Cardiac neoplasm|Cardiac tumor|heart neoplasm (disease)|tumor of heart|myocardial tumors (rhabdomyomas and fibromas)|heart tumor|tumor of the heart|neoplasm of the heart|Cardiac neoplasms GARD:0002619|EFO:1001339|NCIT:C3081 owl:Class MONDO:0005185 biolink:NamedThing chronic childhood arthritis An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. tmpak2llvmy_mondo_relaxed.owl JRA|Juvenile rheumatoid arthritis|Juvenile rheumatoid arthritis (AQ) EFO:0002609|Wikipedia:Juvenile_idiopathic_arthritis|SCTID:410793008|NCIT:C27179 This class is scheduled for obsoletion owl:Class MONDO:0008383 biolink:NamedThing rheumatoid arthritis A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. tmpak2llvmy_mondo_relaxed.owl arthritis or polyarthritis, rheumatic|RA|rheumatoid arthritis, susceptibility to|rheumatoid arthritis|arthritis, rheumatoid|autoimmune arthritis|atrophic arthritis NCIT:C2884|EFO:0000685|ICD9:714.0|SCTID:69896004|OMIM:180300|MESH:D001172|ICD10:M06.9|UMLS:C0003873|KEGG:05323|DOID:7148 owl:Class MONDO:0017684 biolink:NamedThing disorder of beta and omega amino acid metabolism tmpak2llvmy_mondo_relaxed.owl Orphanet:308407|UMLS:C0342707|ICD9:270.8|SCTID:237940008 owl:Class MONDO:0019189 biolink:NamedThing inborn disorder of amino acid and other organic acid metabolism tmpak2llvmy_mondo_relaxed.owl disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism Orphanet:79062|ICD9:270.8|UMLS:C0342666|SCTID:237911005 owl:Class GO:0045184 biolink:NamedThing establishment of protein localization The directed movement of a protein to a specific location. tmpak2llvmy_mondo_relaxed.owl establishment of protein localisation|protein recruitment|protein positioning owl:Class GO:0008104 biolink:NamedThing protein localization Any process in which a protein is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl establishment and maintenance of protein localization|asymmetric protein localization|establishment and maintenance of asymmetric protein localization|protein localisation|asymmetric protein localisation owl:Class MONDO:0016740 biolink:NamedThing choriocarcinoma of the central nervous system A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) tmpak2llvmy_mondo_relaxed.owl central nervous system choriocarcinoma|central nervous system choriocarcinoma (disease)|choriocarcinoma of the CNS|choriocarcinoma of CNS UMLS:C1332876|UMLS:CN201988|NCIT:C7012|Orphanet:252015 owl:Class MONDO:0003578 biolink:NamedThing extragonadal nonseminomatous germ cell tumor A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpak2llvmy_mondo_relaxed.owl primary malignant extragonadal Nonseminoma|cancer of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell tumor|extragonadal primary Nonseminoma|malignant neoplasm of extragonadal non-seminomatous germ cell|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant tumor of the extragonadal non-seminomatous germ cell|malignant tumor of extragonadal non-seminomatous germ cell|malignant extragonadal Nonseminoma|extragonadal non-seminomatous germ cell cancer|malignant extragonadal non-seminomatous germ cell neoplasm|cancer of the extragonadal non-seminomatous germ cell NCIT:C8885|UMLS:C1334582|DOID:5677 owl:Class GO:0009581 biolink:NamedThing detection of external stimulus The series of events in which an external stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of external stimulus owl:Class GO:0009605 biolink:NamedThing response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpak2llvmy_mondo_relaxed.owl response to environmental stimulus owl:Class MONDO:0016791 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies tmpak2llvmy_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies 2022-03-01 UMLS:CN202048|Orphanet:254758 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class HGNC:4932 biolink:NamedThing HLA-B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007866 biolink:NamedThing Bart-Pumphrey syndrome tmpak2llvmy_mondo_relaxed.owl knuckle pads, leuconychia and sensorineural deafness|Bart-Pumphrey syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads, leukonychia, and sensorineural deafness|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome DOID:0050658|GARD:0003125|SCTID:1271009|ICD10:Q82.8|OMIM:149200|ICD9:759.89|MESH:C537210|Orphanet:2698 owl:Class MONDO:0001339 biolink:NamedThing portal vein thrombosis The formation of a blood clot (thrombus) in the portal vein. tmpak2llvmy_mondo_relaxed.owl portal vein thrombotic disease|thrombotic disease of portal vein NCIT:C78565|ICD9:452|SCTID:17920008|ICD10:I81|UMLS:C0155773|DOID:11695 owl:Class MONDO:0000831 biolink:NamedThing thrombotic disease The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. tmpak2llvmy_mondo_relaxed.owl blood Clots|thrombosis|thrombus|blood clot|thrombotic disorder|Clots, blood|clot, blood|Thromboses MESH:D013927|ICD9:453.9|DOID:0060903|NCIT:C26891|SCTID:439127006 owl:Class GO:0043400 biolink:NamedThing cortisol secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. tmpak2llvmy_mondo_relaxed.owl hydrocortisone secretion owl:Class GO:0035933 biolink:NamedThing glucocorticoid secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011197 biolink:NamedThing parathyroid epithelium An epithelium that is part of a parathyroid gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100405 biolink:NamedThing acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.) tmpak2llvmy_mondo_relaxed.owl AML, Non-KMT2A MLLT10 Rearrangement|AML, Non-KMT2A MLLT10 rearrangement positive|AML, Non-MLL MLLT10 Rearrangement|AML, Non-MLL MLLT10 Rearrangement Positive owl:Class GO:1903012 biolink:NamedThing positive regulation of bone development Any process that activates or increases the frequency, rate or extent of bone development. tmpak2llvmy_mondo_relaxed.owl upregulation of bone development|up-regulation of bone development|activation of bone development|up regulation of bone development owl:Class GO:1903010 biolink:NamedThing regulation of bone development Any process that modulates the frequency, rate or extent of bone development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007134 biolink:NamedThing Cooks syndrome Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. tmpak2llvmy_mondo_relaxed.owl anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|Cooks syndrome|ODP|anonychia and absence/hypoplasia of distal phalanges|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges UMLS:C1862841|GARD:0004083|SCTID:720747002|Orphanet:1487|ICD10:Q84.6|MESH:C537766|OMIM:106995 owl:Class GO:0045916 biolink:NamedThing negative regulation of complement activation Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. tmpak2llvmy_mondo_relaxed.owl negative regulation of complement cascade|down regulation of complement activation|inhibition of complement activation|downregulation of complement activation|down-regulation of complement activation owl:Class GO:0002921 biolink:NamedThing negative regulation of humoral immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. tmpak2llvmy_mondo_relaxed.owl down-regulation of humoral immune response|downregulation of humoral immune response|inhibition of humoral immune response|down regulation of humoral immune response owl:Class ENVO:01001215 biolink:NamedThing visible spectrum stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm. tmpak2llvmy_mondo_relaxed.owl optical stellar radiation|visible spectrum solar radiation owl:Class ENVO:21001215 biolink:NamedThing visible spectrum radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm. tmpak2llvmy_mondo_relaxed.owl optical radiation|visible light owl:Class MONDO:0009925 biolink:NamedThing autosomal recessive inherited pseudoxanthoma elasticum An autosomal recessive form of PXE. tmpak2llvmy_mondo_relaxed.owl Gronblad Strandberg syndrome|Gronblad-Strandberg-Touraine syndrome|pseudoxanthoma elasticum, modifier of severity of|PXE|pseudoxanthoma elasticum|PXE, modifier of severity of|Gronblad-Strandberg syndrome|AR inherited pseudoxanthoma elasticum SCTID:402782006|Orphanet:758|MedDRA:10037150|OMIM:264800|ICD9:757.39|ICD10:Q82.8|SCTID:72744008|UMLS:C0033847|MESH:D011561|DOID:2738|NCIT:C85036 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0015953 biolink:NamedThing genetic central nervous system and retinal vascular disease tmpak2llvmy_mondo_relaxed.owl Orphanet:183503|UMLS:CN200550 owl:Class MONDO:0012656 biolink:NamedThing lethal congenital contracture syndrome 3 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome 3|lethal congenital contracture syndrome type 3|PIP5K1C lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in PIP5K1C|Israeli Bedouin type B multiple contracture syndrome|multiple contracture syndrome, Israeli Bedouin type B|LCCS3 MESH:C566961|UMLS:C1969655|Orphanet:137783|OMIM:611369|DOID:0060653|ICD10:Q68.8|SCTID:715420005|GARD:0012644|UMLS:C4275144 https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 owl:Class GO:0140013 biolink:NamedThing meiotic nuclear division One of the two nuclear divisions that occur as part of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl meiosis owl:Class GO:1903046 biolink:NamedThing meiotic cell cycle process A process that is part of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013223 biolink:NamedThing autosomal recessive spondylometaphyseal dysplasia, Megarbane type Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia, Megarbane-Dagher-Melki type|PAM16 spondylodysplastic dysplasia|spondylodysplastic dysplasia caused by mutation in PAM16|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|SMDMDM|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type MESH:C567644|OMIM:613320|UMLS:C2750075|Orphanet:401979|ICD10:Q77.8 owl:Class MONDO:0000424 biolink:NamedThing inborn vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. tmpak2llvmy_mondo_relaxed.owl cobalamin deficiency|inborn error of cobalamin metabolic process|hypocobalaminemia|inborn vitamin B12 deficiency (disease)|rare inborn error of cobalamin metabolic process|inborn cobalamin metabolic process disorder inborn vitamin B12 deficiency (disease) DOID:0050731|EFO:0000734 owl:Class MONDO:0005528 biolink:NamedThing inborn vitamin metabolic disorder An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn vitamin metabolic process disorder|rare inborn error of vitamin metabolic process|inborn error of vitamin metabolic process|vitamin metabolic disorder EFO:0005596|DOID:0050718 owl:Class GO:0009060 biolink:NamedThing aerobic respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045333 biolink:NamedThing cellular respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). tmpak2llvmy_mondo_relaxed.owl respiration|oxidative metabolism|oxidative metabolic process owl:Class MONDO:0008062 biolink:NamedThing narcolepsy 1 A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy. tmpak2llvmy_mondo_relaxed.owl HCRT narcolepsy|NRCLP1|narcolepsy 1|narcolepsy type 1|narcoleptic syndrome 1|narcolepsy caused by mutation in HCRT|cataplexy SCTID:46263000|NCIT:C84618|UMLS:C1834372|OMIM:161400 owl:Class MONDO:0016158 biolink:NamedThing narcolepsy-cataplexy syndrome Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). tmpak2llvmy_mondo_relaxed.owl narcoleptic syndrome|Gelineau's syndrome|GC)lineau disease|narcolepsy-cataplexy syndrome|Gelineau syndrome|Gélineau disease|narcolepsy with cataplexy|paroxysmal sleep GARD:0007162|ICD9:347.0|ICD10:G47.41|MedDRA:10028713|EFO:0000614|Orphanet:2073|ICD10:G47.4|ICD10:G47.419 https://rarediseases.info.nih.gov/diseases/7162/narcolepsy owl:Class HGNC:7979 biolink:NamedThing NR3C2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016542 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. tmpak2llvmy_mondo_relaxed.owl IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease|autosomal recessive early-onset IBD|autosomal recessive early-onset inflammatory bowel disease UMLS:CN201623|ICD10:K52.8|Orphanet:238569|GARD:0013016 owl:Class MONDO:0003626 biolink:NamedThing uterine ligament serous adenocarcinoma A rare serous adenocarcinoma that arises from the uterine ligament. tmpak2llvmy_mondo_relaxed.owl uterine ligament serous adenocarcinoma NCIT:C40136|DOID:5747|UMLS:C1519872 owl:Class MONDO:0005278 biolink:NamedThing serous adenocarcinoma An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl serous adenocarcinoma|serous carcinoma|serous cystadenocarcinoma|serous cystadenocarcinoma, NOS (morphologic abnormality) EFO:0003825|NCIT:C40101|UMLS:C0206701|DOID:3114 owl:Class MONDO:0013354 biolink:NamedThing spastic ataxia 4 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic ataxia - optic atrophy - dysarthria|SPAX4|spastic ataxia 4, autosomal recessive|autosomal recessive spastic ataxia 4|spastic ataxia type 4|autosomal recessive spastic ataxia type 4|MTPAP autosomal recessive spastic ataxia|autosomal recessive spastic ataxia caused by mutation in MTPAP|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome UMLS:CN230090|DOID:0050943|ICD10:G11.4|Orphanet:254343|OMIM:613672|GARD:0010992|UMLS:C3150925 owl:Class MONDO:0043009 biolink:NamedThing genetic lethal multiple congenital anomalies/dysmorphic syndrome An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:471383 owl:Class MONDO:0018731 biolink:NamedThing lethal multiple congenital anomalies/dysmorphic syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:459787 owl:Class UBERON:0022350 biolink:NamedThing visceral serous membrane Serous membrane layer that is adjacent to and lines an organ. tmpak2llvmy_mondo_relaxed.owl visceral wall of serous membrane owl:Class NCIT:C77140 biolink:NamedThing Clinical Test Result tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C3367 biolink:NamedThing Finding tmpak2llvmy_mondo_relaxed.owl Finding owl:Class CL:0000164 biolink:NamedThing enteroendocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. tmpak2llvmy_mondo_relaxed.owl FMA:62930|BTO:0003865 cell owl:Class UBERON:0001199 biolink:NamedThing mucosa of stomach The mucosal layer that lines the stomach. tmpak2llvmy_mondo_relaxed.owl mucosa of ventriculus|ventriculus organ mucosa|mucosa of organ of stomach|mucosa of organ of ventriculus|organ mucosa of ventriculus|mucous membrane of ventriculus|ventriculus mucosa|tunica mucosa (gaster)|tunica mucosa gastricae|mucous membrane of stomach|stomach mucosa of organ|organ mucosa of stomach|stomach mucous membrane|Magenschleimhaut|ventriculus mucous membrane|stomach organ mucosa|tunica mucosa gastris|gastric mucosa|ventriculus mucosa of organ|gastric mucous membrane|stomach mucosa owl:Class GO:0051223 biolink:NamedThing regulation of protein transport Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070201 biolink:NamedThing regulation of establishment of protein localization Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. tmpak2llvmy_mondo_relaxed.owl regulation of establishment of protein localisation owl:Class MONDO:0008809 biolink:NamedThing polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl Hamanishi-Ueba-Tsuji syndrome|aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|digital extensor muscle aplasia-polyneuropathy|polyneuropathy, hand defect|Hamanishi Ueba Tsuji syndrome GARD:0002589|MESH:C535624|Orphanet:2926|OMIM:207740|ICD10:Q87.8|UMLS:C2930955 https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome owl:Class HP:0030809 biolink:NamedThing Abnormal tongue morphology Any structural anomaly of the tongue. tmpak2llvmy_mondo_relaxed.owl UMLS:C4280755 human_phenotype owl:Class HP:0000157 biolink:NamedThing Abnormality of the tongue Any abnormality of the tongue. tmpak2llvmy_mondo_relaxed.owl Abnormality of the tongue|Tongue abnormality|Glossal abnormality|Lingual abnormality|Abnormal tongue UMLS:C0878638 human_phenotype owl:Class MONDO:0019369 biolink:NamedThing complex regional pain syndrome Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. tmpak2llvmy_mondo_relaxed.owl reflex sympathetic dystrophy|CRPS|Complex regional pain syndromes DOID:3223|UMLS:C0458219|ICD10:M89.0|ICD10:G56.4|MESH:D020918|GARD:0004647|SCTID:128200000|Orphanet:83452|MedDRA:10064332 owl:Class MONDO:0024498 biolink:NamedThing glioma susceptibility 1 tmpak2llvmy_mondo_relaxed.owl ependymoma|GLM1|oligodendroglioma|glioblastoma multiforme|glioma susceptibility 1|subependymoma|astrocytoma|glioma of brain, familial OMIM:137800 owl:Class MONDO:0100242 biolink:NamedThing glioma susceptibility An inherited susceptibility or predisposition to developing glioma. tmpak2llvmy_mondo_relaxed.owl glioma, susceptibility|glioma, susceptibility to OMIMPS:137800 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003720 biolink:NamedThing anterior cranial fossa The floor of the anterior fossa is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove. The lesser wings of the sphenoid separate the anterior and middle fossae. tmpak2llvmy_mondo_relaxed.owl anterior fossa|fossa cranii anterior owl:Class MONDO:0012092 biolink:NamedThing hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. tmpak2llvmy_mondo_relaxed.owl insensitivity to pain, congenital|HSAN 5|neuropathy, hereditary sensory and autonomic, type V|HSAN5|hereditary sensory and autonomic neuropathy type V|HSAN V|NGF autosomal recessive hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type 5|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|congenital insensitivity to pain and thermal analgesia PMID:77656|GARD:12328|GARD:0012328|DOID:0070145|SCTID:128206006|PMID:14976160|Orphanet:64752|ICD10:G60.8|OMIM:608654 owl:Class MONDO:0015366 biolink:NamedThing autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive form of hereditary sensory and autonomic neuropathy. tmpak2llvmy_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal recessive Orphanet:140477|ICD10:G60.8|UMLS:CN228933 owl:Class MONDO:0018062 biolink:NamedThing autosomal dominant trichoodontoonychodysplasia-syndactyly tmpak2llvmy_mondo_relaxed.owl Trueb Burg Bottani syndrome|ectodermal dysplasia with corkscrew hairs|Tricho-odonto-onychodysplasia with syndactyly|Trueb-Burg-Bottani syndrome MESH:C536565|UMLS:C2931239|Orphanet:3357|GARD:0005376 https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome owl:Class MONDO:0002595 biolink:NamedThing vaccinia The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. tmpak2llvmy_mondo_relaxed.owl UMLS:C0042214|ICD9:999.0|SCTID:111852003|MESH:D014615|DOID:3298 owl:Class MONDO:0005108 biolink:NamedThing viral infectious disease Any disease caused by a virus. tmpak2llvmy_mondo_relaxed.owl Viruses infection|infection, viral|infections, Viruses|viral infection|Viruses caused disease or disorder|Viruses infectious disease|viral disease|Viruses disease or disorder|virus infection|viral disorder NCIT:C3439|ICD10:B34|DOID:934|ICD10:B34.9|ICD9:079.99|ICD10:A94|ICD9:060-066.99|ICD9:078.89|ICD9:066.9|EFO:0000763|SCTID:34014006|MESH:D014777 owl:Class MONDO:0007380 biolink:NamedThing lattice corneal dystrophy type I Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. tmpak2llvmy_mondo_relaxed.owl LCDI|CDL1|lattice corneal dystrophy type 1|Biber-Haab-Dimmer dystrophy|LCD|corneal dystrophy, lattice type I|Lcd1|corneal dystrophy, lattice type 1|lattice corneal dystrophy, type 1|classic lattice corneal dystrophy GARD:0009678|ICD10:H18.5|Orphanet:98964|UMLS:C1690006|MESH:C537881|OMIM:122200|SCTID:419197009|UMLS:CN207224 owl:Class MONDO:0004686 biolink:NamedThing lattice corneal dystrophy tmpak2llvmy_mondo_relaxed.owl lattice corneal dystrophy (disease)|familial amyloid neuropathy, Finnish type|lattice corneal dystrophy lattice corneal dystrophy (disease) SCTID:1192004|ICD9:277.39|UMLS:C0155127|ICD9:357.4|HP:0001149|DOID:8943 Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II owl:Class HP:0004339 biolink:NamedThing Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration UMLS:C4021660 Cysteine and methionine contain a sulfur atom. peter 2008-03-08T08:01:00Z human_phenotype owl:Class MONDO:0018273 biolink:NamedThing XYLT1-CDG tmpak2llvmy_mondo_relaxed.owl XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Orphanet:370930|UMLS:CN204859|ICD10:E77.8 owl:Class HGNC:7225 biolink:NamedThing MPZ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015943 biolink:NamedThing eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. tmpak2llvmy_mondo_relaxed.owl allergic granulomatosis|allergic Granulomatoses|vasculitis, eosinophilic granulomatous|Churg Strauss syndrome|eosinophilic granulomatous vasculitis|granulomatous Vasculitides, eosinophilic|granulomatous allergic Angiitides|Vasculitides, eosinophilic granulomatous|eosinophilic granulomatous Vasculitides|vasculitis, Churg Strauss|granulomatous vasculitis, eosinophilic|syndrome, Churg-Strauss|Churg-Strauss syndrome|EGPA|allergic granulomatous Angiitides|angiitis, allergic|Granulomatoses, allergic|allergic granulomatous and angiitis|granulomatous angiitis, allergic|allergic Angiitides|granulomatous Angiitides, allergic|granulomatous allergic angiitis|Churg-Strauss vasculitis|allergic granulomatous angiitis|vasculitis, Churg-Strauss|allergic granulomatosis angiitis|Angiitides, allergic granulomatous|allergic angiitis and granulomatosis|Angiitides, granulomatous allergic|allergic angiitis|allergic angiitis, granulomatous|granulomatosis, allergic|angiitis, granulomatous allergic|allergic Angiitides, granulomatous|angiitis, allergic granulomatous|Angiitides, allergic Orphanet:183|DOID:3049|UMLS:C0008728|MESH:D015267|GARD:0006111|NCIT:C34481|GARD:0005776|MedDRA:10048594|EFO:0007208|SCTID:82275008|ICD10:M30.1 owl:Class MONDO:0006787 biolink:NamedThing hidrocystoma A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. tmpak2llvmy_mondo_relaxed.owl cystadenoma|hidrocystoma|apocrine/eccrine hidrocystoma|eccrine cystadenoma|Hydrocystoma|apocrine cystadenoma|hidrocystoma (morphologic abnormality)|eccrine hidrocystoma of skin NCIT:C3760|MESH:D018251|DOID:3893|ICD9:709.8|EFO:1000967|ICDO:8404/0|UMLS:C0206672|SCTID:254725004|MedDRA:10059019 owl:Class MONDO:0021489 biolink:NamedThing benign neoplasm of sweat gland A benign neoplasm that involves the sweat gland. tmpak2llvmy_mondo_relaxed.owl benign tumor of sweat gland|sweat gland neoplasm, benign|benign tumor of the sweat gland|benign sweat gland neoplasm|benign neoplasm of the sweat gland|sweat gland benign neoplasm|benign sweat gland tumor SCTID:92422009|NCIT:C4879|UMLS:C0684354 owl:Class MONDO:0009043 biolink:NamedThing generalized resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. tmpak2llvmy_mondo_relaxed.owl GRTH|deafness-thyroid hormone resistance syndrome|Refetoff syndrome Orphanet:3221|ICD10:E07.8 owl:Class MONDO:0001328 biolink:NamedThing thyroid hormone resistance syndrome An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. tmpak2llvmy_mondo_relaxed.owl generalized thyroid hormone resistance|resistance to thyrotropin|TSH resistance|thyroid hormone resistance syndrome|thyroid hormone resistance|thyroid hormone responsiveness defect|resistance to thyroid stimulating hormone|RTH UMLS:CN118820|SCTID:111567006|DOID:11633|ICD9:259.8|MESH:D018382 owl:Class MONDO:0016692 biolink:NamedThing pilomyxoid astrocytoma An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. tmpak2llvmy_mondo_relaxed.owl PMA ICD10:C71.9|ONCOTREE:PMA|ICDO:9425/3|NCIT:C40315|UMLS:C1519086|DOID:4845|Orphanet:251615 owl:Class MONDO:0016691 biolink:NamedThing pilocytic astrocytoma Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. tmpak2llvmy_mondo_relaxed.owl grade I astrocytic tumor|Piloid astrocytoma|astrocytoma, benign|grade I astrocytic neoplasm|astrocytoma, pilocytic, benign|grade I astrocytoma|pilocytic astrocytoma ICDO:9421/1|DOID:4851|UMLS:C0334583|ONCOTREE:PAST|GARD:0009808|SCTID:763865009|Orphanet:251612|NCIT:C4047|ICD10:C79.1|ICD10:C71.9 owl:Class MONDO:0001809 biolink:NamedThing adhesions of uterus tmpak2llvmy_mondo_relaxed.owl band of uterus|intrauterine synechiae UMLS:CN199257|SCTID:361115000|ICD9:621.5|DOID:13812 owl:Class MONDO:0002654 biolink:NamedThing uterine disease A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. tmpak2llvmy_mondo_relaxed.owl disease of uterus|disease or disorder of uterus|uterine disorder|disorder of uterus|uterus disease or disorder|uterus disease|uterine disease ICD10:N85.9|DOID:345|UMLS:C0042131|MESH:D014591|SCTID:12337004|ICD9:621.9|ICD9:621.8|NCIT:C26907 owl:Class PO:0009086 biolink:NamedThing endocarp A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084). tmpak2llvmy_mondo_relaxed.owl 内果皮 (Japanese, exact)|portion of endocarp tissue (exact)|citrus flesh (related)|endocarpo (Spanish, exact)|inner epidermis of pericarp (related)|citrus pulp (related) PO_GIT:511|PO_GIT:149 PO:0006047 plant_anatomy owl:Class FOODON:03420167 biolink:NamedThing fruit part The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035606 biolink:NamedThing cartilage of external acoustic meatus tmpak2llvmy_mondo_relaxed.owl cartilage of auditory canal|cartilage of acoustic meatus|cartilago meatus acustici|external acoustic meatus cartilage owl:Class MONDO:0021629 biolink:NamedThing uterine ligament neoplasm A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl uterine ligament neoplasm|tumor of uterine ligament|tumor of the uterine ligament|uterine ligament neoplasm (disease)|neoplasm of the uterine ligament|uterine ligament tumor|neoplasm of uterine ligament NCIT:C40133|UMLS:C1519870 owl:Class MONDO:0013457 biolink:NamedThing Leber congenital amaurosis 15 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in TULP1|LCA15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis 15|Leber congenital amaurosis type 15|retinitis pigmentosa, juvenile, Tulp1-related ICD10:H35.5|GARD:0010884|OMIM:613843|DOID:0110189|UMLS:C3151206 https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15 owl:Class MONDO:0044993 biolink:NamedThing sympathetic nervous system disease A disease or disorder that involves the sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl sympathetic nervous system disease or disorder|disorder of sympathetic nervous system|disease or disorder of sympathetic nervous system|sympathetic nervous system disease|disease of sympathetic nervous system SCTID:50330009 owl:Class MONDO:0014455 biolink:NamedThing cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl CAGSSS|cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia ICD10:Q87.8|UMLS:C4014942|OMIM:616007|Orphanet:436174 owl:Class MONDO:0007183 biolink:NamedThing azotemia, familial tmpak2llvmy_mondo_relaxed.owl azotemia, familial UMLS:C1862358|OMIM:109160|MESH:C566233 owl:Class MONDO:0006709 biolink:NamedThing common bile duct neoplasm Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. tmpak2llvmy_mondo_relaxed.owl common bile duct tumor|neoplasm of common bile duct|tumor of common bile duct|common bile duct neoplasm (disease) MESH:D003138|DOID:4608|SCTID:126857009|UMLS:C0009442|EFO:1000876 owl:Class GO:0098643 biolink:NamedThing banded collagen fibril A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099512 biolink:NamedThing supramolecular fiber A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. tmpak2llvmy_mondo_relaxed.owl fibril owl:Class UBERON:0010527 biolink:NamedThing cavity of bone organ An organ cavity that surrounded_by a bone. tmpak2llvmy_mondo_relaxed.owl bone organ cavity owl:Class UBERON:0002558 biolink:NamedThing organ cavity tmpak2llvmy_mondo_relaxed.owl cavity of organ owl:Class GO:0030879 biolink:NamedThing mammary gland development The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. tmpak2llvmy_mondo_relaxed.owl mammogenesis owl:Class GO:0048732 biolink:NamedThing gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024502 biolink:NamedThing gallbladder neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl gall bladder neuroendocrine tumor|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gallbladder neuroendocrine neoplasm|neuroendocrine neoplasm of gall bladder|gall bladder neuroendocrine neoplasm|gall bladder NET UMLS:C3273115|NCIT:C96917 owl:Class HGNC:6823 biolink:NamedThing MAN1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902930 biolink:NamedThing regulation of alcohol biosynthetic process Any process that modulates the frequency, rate or extent of alcohol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of alcohol formation|regulation of alcohol anabolism|regulation of alcohol biosynthesis|regulation of alcohol synthesis|regulation of solventogenesis owl:Class GO:0062012 biolink:NamedThing regulation of small molecule metabolic process Any process that modulates the rate, frequency or extent of a small molecule metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of small molecule metabolism owl:Class HGNC:23399 biolink:NamedThing FREM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010651 biolink:NamedThing Menkes disease Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. tmpak2llvmy_mondo_relaxed.owl Menkes kinky-hair syndrome|steely hair disease|MD|kinky hair syndrome|copper transport disease|MNK|steely hair syndrome|Menkea syndrome|Menkes disease|X-linked copper deficiency|kinky hair disease|Menkes syndrome|Mk|Trichopoliodystrophy|Menkes kinky hair syndrome ICD10:E83.0|OMIM:309400|NCIT:C75486|UMLS:C0022716|DOID:1838|MedDRA:10027294|SCTID:59178007|MESH:D007706|Orphanet:565|ICD9:759.89|GARD:0001521 https://rarediseases.info.nih.gov/diseases/1521/menkes-disease owl:Class MONDO:0017762 biolink:NamedThing disorder of copper metabolism An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. tmpak2llvmy_mondo_relaxed.owl copper Transport disorders|rare inborn error of cellular copper ion homeostasis|inborn cellular copper ion homeostasis disorder|inborn error of cellular copper ion homeostasis ICD9:275.1|Orphanet:309839|UMLS:CN043585|ICD10:E83.0|MedDRA:10061091|UMLS:C0012714|SCTID:79886009 owl:Class MONDO:0017362 biolink:NamedThing neuralgic amyotrophy Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. tmpak2llvmy_mondo_relaxed.owl neuralgic shoulder amyotrophy|mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis ICD10:G54.5|MedDRA:10063020|Orphanet:2901 owl:Class MONDO:0015923 biolink:NamedThing acquired peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired peripheral neuropathy Orphanet:182086 owl:Class UBERON:0007808 biolink:NamedThing adipose tissue of abdominal region Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. tmpak2llvmy_mondo_relaxed.owl abdominal fat|abdominal adipose tissue|intra-abdominal fat owl:Class UBERON:0003567 biolink:NamedThing abdomen connective tissue A portion of connective tissue that is part of an abdomen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl portion of connective tissue of abdomen|abdomen textus connectivus|abdomen portion of connective tissue|connective tissue of abdomen|textus connectivus of abdomen owl:Class MONDO:0020657 biolink:NamedThing human papillomavirus-related squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl human papillomavirus-related squamous cell carcinoma|human papilloma virus related squamous cell carcinoma|HPV-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma NCIT:C27683 owl:Class MONDO:0017341 biolink:NamedThing virus associated tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:289635|UMLS:CN203003 https://github.com/monarch-initiative/mondo/issues/254 owl:Class CL:0000169 biolink:NamedThing type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. tmpak2llvmy_mondo_relaxed.owl beta cell islet|B-cell of pancreatic islet|insulin-secreting cell|pancreatic beta cell|beta cell|pancreatic islet core|pancreatic B-cell|pancreatic B cell|type B enteroendocrine cell|beta cell of pancreatic islet FMA:70586|ncithesaurus:Beta_Cell|BTO:0000783|EV:0200009|MA:0002419 Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. cell owl:Class MONDO:0010711 biolink:NamedThing TARP syndrome A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. tmpak2llvmy_mondo_relaxed.owl Pierre Robin syndrome - congenital heart defect - talipes|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|TARPS|Pierre Robin syndrome-congenital heart defect-talipes syndrome|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin syndrome with congenital heart malformation and clubfoot|tarp syndrome|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava SCTID:725911008|OMIM:311900|UMLS:C1839463|ICD10:Q87.8|MESH:C536942|Orphanet:2886|DOID:0111780|GARD:0010089 https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome owl:Class MONDO:0005249 biolink:NamedThing pneumonia An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. tmpak2llvmy_mondo_relaxed.owl acute pneumonia ICD9:484.8|ICD9:483|SCTID:233604007|DOID:552|UMLS:C0032285|EFO:0003106|NCIT:C3333|ICD10:J15|ICD9:483.8|MESH:D011014|ICD9:486|ICD10:J18.9 https://github.com/monarch-initiative/mondo/issues/3790 owl:Class MONDO:0043905 biolink:NamedThing pneumonitis An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. tmpak2llvmy_mondo_relaxed.owl inflammation of lung parenchyma|lung parenchyma inflammation|pneumonitis NCIT:C113159|SCTID:205237003 Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious owl:Class MONDO:0014434 biolink:NamedThing Bardet-Biedl syndrome 5 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. tmpak2llvmy_mondo_relaxed.owl BBS5|Bardet-Biedl syndrome caused by mutation in BBS5|Bardet-Biedl syndrome 5|BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 5 OMIM:615983|ICD10:Q87.89|GARD:0010204|EFO:0009025|UMLS:C3892039|DOID:0110127 https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 owl:Class MONDO:0015229 biolink:NamedThing Bardet-Biedl syndrome Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems tmpak2llvmy_mondo_relaxed.owl BBS|Bardet-Biedl syndrome UMLS:C0752166|MESH:D020788|GARD:0006866|NCIT:C118632|SCTID:5619004|MedDRA:10056715|ICD9:759.89|Orphanet:110|DOID:1935|ICD10:Q87.8|ICD10:Q87.89|OMIMPS:209900 owl:Class MONDO:0020663 biolink:NamedThing malignant spindle cell neoplasm A malignant neoplasm characterized by the presence of atypical spindle cells. tmpak2llvmy_mondo_relaxed.owl malignant spindle cell tumor|malignant spindle cell neoplasm|spindle cell cancer NCIT:C27091 owl:Class MONDO:0043116 biolink:NamedThing iida kannari syndrome tmpak2llvmy_mondo_relaxed.owl craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features MESH:C536284|UMLS:C2931159|GARD:0003249 owl:Class MONDO:0016064 biolink:NamedThing cleft palate Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. tmpak2llvmy_mondo_relaxed.owl uranostaphyloschisis|cleft velum|palatoschisis ICD9:749.00|ICD10:Q35.3|SCTID:63567004|ICD10:Q35.1|Orphanet:2014|DOID:674|MedDRA:10009269|ICD9:749.0|ICD10:Q35.7|MESH:D002972|NCIT:C87069|ICD10:Q35.5|ICD10:Q35.9|ICD10:Q35|UMLS:C0008925 owl:Class MONDO:0004779 biolink:NamedThing epididymitis Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. tmpak2llvmy_mondo_relaxed.owl epididymitis (disease)|epididymis|epididymitis|epididymal epididymitis (disease) SCTID:31070006|DOID:9402|HP:0000031|UMLS:C0014534|NCIT:C12328|ICD10:N45.1|MESH:D004823 owl:Class MONDO:0003150 biolink:NamedThing male reproductive system disease A disease involving the male reproductive system. tmpak2llvmy_mondo_relaxed.owl disorder of male reproductive system|disease or disorder of male reproductive system|male reproductive disease|disorder of Male reproductive system|disease of male reproductive system|male reproductive system disease or disorder|Male reproductive system disease|Male reproductive system disorder|male reproductive system disease MESH:D005832|ICD9:600-608.99|NCIT:C27019|SCTID:363194005|ICD9:608.9|ICD10:N40.N51|ICD10:N50.9|DOID:48 owl:Class GO:0006144 biolink:NamedThing purine nucleobase metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. tmpak2llvmy_mondo_relaxed.owl purine metabolic process|purine base metabolism|purine metabolism|purine base metabolic process owl:Class GO:0072521 biolink:NamedThing purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpak2llvmy_mondo_relaxed.owl purine and derivative metabolic process|purine-containing compound metabolism owl:Class MONDO:0008795 biolink:NamedThing aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl GILLESPIE syndrome|GLSP|aniridia, cerebellar ataxia, and mental retardation|aniridia, cerebellar ataxia and mental deficiency|Gillespie syndrome|aniridia, cerebellar ataxia, and intellectual disability GARD:0000013|ICD9:759.89|Orphanet:1065|ICD10:G11.0|MESH:C536370|OMIM:206700|UMLS:C0431401|DOID:0111578|SCTID:253176002 owl:Class MONDO:0008422 biolink:NamedThing autosomal dominant sideroblastic anemia Autosomal dominant form of sideroblastic anemia. tmpak2llvmy_mondo_relaxed.owl SIDBA4|anemia, sideroblastic, 4|sideroblastic anemia, autosomal dominant|anemia, sideroblastic, autosomal dominant DOID:0060335|UMLS:C2674249|MESH:C567160|OMIM:182170 owl:Class MONDO:0015194 biolink:NamedThing sideroblastic anemia Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. tmpak2llvmy_mondo_relaxed.owl anemia sideroblastic|anemia, hypochromic with iron loading|anemia, sideroblastic|sideroblastic anemia Orphanet:1047|ICD10:D64.0|MESH:D000756|ICD10:D64.3|DOID:8955|ICD9:285.0|SCTID:41841004|ICD10:D64.2|MedDRA:10040661|UMLS:C0002896|NCIT:C36078|ICD10:D64.1|GARD:0000667 owl:Class GO:2001223 biolink:NamedThing negative regulation of neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. tmpak2llvmy_mondo_relaxed.owl negative regulation of neuron chemotaxis|negative regulation of neuronal migration|negative regulation of neuron guidance owl:Class MONDO:0023682 biolink:NamedThing tympanic paraganglioma A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. tmpak2llvmy_mondo_relaxed.owl Glomus tympanicum tumor|Tumors, Glomus Tympanicum|Tympanic paraganglioma|Tumor, Glomus Tympanicum|tympanic paraganglioma|Glomus Tympanicum Tumors|Tympanic Paraganglioma|Glomus tympanicum paraganglioma|Glomus Tympanicum Tumor GTR:AN0102047|GTR:AN0102048|MESH:D043604|SCTID:253031000|UMLS:C0474820|NCIT:C8428 owl:Class MONDO:0015071 biolink:NamedThing middle ear neuroendocrine tumor A neuroendocrine neoplasm that involves the middle ear. tmpak2llvmy_mondo_relaxed.owl middle ear neuroendocrine tumor, well differentiated, low or intermediate grade|middle ear neuroendocrine tumor|middle ear NET|middle ear neuroendocrine neoplasm|neuroendocrine neoplasm of middle ear|neuroendocrine tumor of middle ear UMLS:CN197364|SCTID:717918002|UMLS:C4305468|Orphanet:100084 owl:Class MONDO:0008570 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 1 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. tmpak2llvmy_mondo_relaxed.owl TTPP1|thyrotoxic periodic paralysis, susceptibility to, type 1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, 1|thyrotoxic periodic paralysis caused by mutation in CACNA1S OMIM:188580 owl:Class MONDO:0019201 biolink:NamedThing thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. tmpak2llvmy_mondo_relaxed.owl thyrotoxic hypokalemic periodic paralysis Orphanet:79102|UMLS:C0268446|OMIMPS:188580|ICD10:G72.3|GARD:0010814|SCTID:30967002|MedDRA:10043788 https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis owl:Class MONDO:0001149 biolink:NamedThing microcephaly A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. tmpak2llvmy_mondo_relaxed.owl microcephaly|microcephalus|microencephaly|microcephaly (disease) microcephaly (disease) HP:0000252|DOID:10907|GARD:0003603|ICD10:Q02|NCIT:C85874|ICD9:742.1|SCTID:1829003 owl:Class CL:0000442 biolink:NamedThing follicular dendritic cell A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. tmpak2llvmy_mondo_relaxed.owl FMA:83037|BTO:0004267 Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. cell owl:Class MONDO:0019167 biolink:NamedThing immunoglobulin a vasculitis SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. tmpak2llvmy_mondo_relaxed.owl purpura, Schonlein-Henoch|purpura rheumatica|rheumatoid purpura|Henoch-SchC6nlein purpura|Henoch Schonlein purpura|IgA vasculitis|vascular purpura|anaphylactoid purpura Orphanet:761|ICD10:D69.0|GARD:0008204|SCTID:86074002 owl:Class UBERON:0005994 biolink:NamedThing chorda tendineae The tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria tmpak2llvmy_mondo_relaxed.owl chordae tendinea|chordae tendineae cordis owl:Class GO:0044282 biolink:NamedThing small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpak2llvmy_mondo_relaxed.owl small molecule catabolism owl:Class GO:0009056 biolink:NamedThing catabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. tmpak2llvmy_mondo_relaxed.owl degradation|catabolism|multicellular organismal catabolic process|single-organism catabolic process|breakdown owl:Class MONDO:0007916 biolink:NamedThing primary intestinal lymphangiectasia Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children. tmpak2llvmy_mondo_relaxed.owl lymphangiectasia, intestinal|familial Waldmann's disease (type)|Waldmann's disease|Waldmann disease|primary intestinal lymphangiectasis ICD10:I89.0|Orphanet:90362|SCTID:6124009|UMLS:C0267372|OMIM:152800|GARD:0007873|UMLS:CN206410|ICD9:457.1 https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia owl:Class MONDO:0018178 biolink:NamedThing intestinal lymphangiectasia Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies. tmpak2llvmy_mondo_relaxed.owl intestinal lymphangiectasia (disease)|intestinal lymphangiectasia intestinal lymphangiectasia (disease) ICD10:I89.0|MedDRA:10025213|HP:0002593|GARD:0012331|Orphanet:36204|SCTID:197260007|ICD9:457.1 owl:Class UBERON:0001604 biolink:NamedThing levator palpebrae superioris The levator palpebrae superioris (or levator muscle of upper eyelid) is the muscle in the orbit that elevates the superior (upper) eyelid. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:452284 biolink:NamedThing Ustilaginomycotina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5204 biolink:NamedThing Basidiomycota tmpak2llvmy_mondo_relaxed.owl basidiomycetes GC_ID:1 ncbi_taxonomy owl:Class HsapDv:0000105 biolink:NamedThing 11-year-old human stage Child stage that refers to a child who is over 11 and under 12 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007670 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. tmpak2llvmy_mondo_relaxed.owl hypotrichosis lymphedema telangiectasia syndrome GARD:0012827|Orphanet:69735 owl:Class MONDO:0009588 biolink:NamedThing Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. tmpak2llvmy_mondo_relaxed.owl mesomelic dwarfism, Langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|Langer type mesomelic dysplasia|Langer syndrome|dyschondrosteosis, homozygous|Langer mesomelic dysplasia|LMD NCIT:C126876|MESH:C537267|SCTID:38494008|UMLS:C0432230|ICD10:Q87.1|Orphanet:2632|ICD9:756.59|GARD:0003553|OMIM:249700 https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia owl:Class MONDO:0020581 biolink:NamedThing benign PEComa A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. tmpak2llvmy_mondo_relaxed.owl typical PEComa|neoplasm with perivascular epithelioid cell differentiation, benign|benign PEComa|benign PEComa, nos|benign neoplasm with perivascular epithelioid cell differentiation|benign PEComa, not otherwise specified NCIT:C121791|UMLS:C3839685 owl:Class HP:0002069 biolink:NamedThing Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. tmpak2llvmy_mondo_relaxed.owl Tonic-clonic convulsion|Seizures, tonic-clonic|Tonic-clonic convulsions|Generalized convulsion|Grand mal|Generalised tonic-clonic seizure (without specification of onset)|Generalized tonic-clonic seizure (without specification of onset)|Bilateral convulsive seizures|Grand mal seizures|Generalised convulsion SNOMEDCT_US:54200006|MSH:D012640|UMLS:C0494475 A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. HP:0007252|HP:0002407|HP:0001306 human_phenotype owl:Class HP:0001250 biolink:NamedThing Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. tmpak2llvmy_mondo_relaxed.owl Epilepsy|Seizures|Epileptic seizure MSH:D012640|UMLS:C0036572|SNOMEDCT_US:313307000|SNOMEDCT_US:91175000|MSH:D004827|SNOMEDCT_US:246545002|SNOMEDCT_US:128613002|SNOMEDCT_US:84757009|UMLS:C0014544 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0001303|HP:0002417|HP:0006997|HP:0002306|HP:0002430|HP:0002279|HP:0002434|HP:0010520|HP:0002125|HP:0002479|HP:0002466|HP:0002348|HP:0001275|HP:0002437|HP:0002391|HP:0002431|HP:0002182|HP:0002794|HP:0002432 human_phenotype owl:Class MONDO:0003034 biolink:NamedThing mediastinum angiosarcoma A malignant vascular neoplasm arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl hemangiosarcoma of the mediastinum|angiosarcoma of the mediastinum|mediastinal hemangiosarcoma|mediastinum angiosarcoma (disease)|angiosarcoma of mediastinum|mediastinal angiosarcoma|hemangiosarcoma of mediastinum|angiosarcoma (disease) of mediastinum DOID:4525|UMLS:C1334649|NCIT:C6613 owl:Class MONDO:0005878 biolink:NamedThing ocular onchocerciasis Onchocerciasis affecting the eye. tmpak2llvmy_mondo_relaxed.owl onchocerciasis of eyeball of camera-type eye|eyeball of camera-type eye onchocerciasis UMLS:C0029002|SCTID:240842000|NCIT:C34862|EFO:0007398|MESH:D015827 owl:Class MONDO:0017137 biolink:NamedThing onchocerciasis Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. tmpak2llvmy_mondo_relaxed.owl River blindness|Robles' disease|onchocerciasis|infection caused by Onchocerca volvulus|onchocercosis|volvulosis|infection by Onchocerca volvulus|Onchocerca volvulus infection ICD9:125.3|GARD:0007252|MedDRA:10039202|MedDRA:10030314|EFO:0007402|UMLS:C0029001|Orphanet:2737|SCTID:38539003|ICD10:B73|DOID:11678|NCIT:C34861|MESH:D009855 https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis owl:Class MONDO:0033683 biolink:NamedThing congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl MYSM1 deficiency Orphanet:508542 owl:Class MONDO:0019060 biolink:NamedThing bone neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. tmpak2llvmy_mondo_relaxed.owl bone tissue tumor|bone neoplasm|tumor of bone|primary bone cancer|bone neoplasms|bone tissue neoplasm|tumor of bone tissue|bone tumor|primary malignant neoplasm of bone|neoplasm of bone tissue|osseous tumor|neoplasm of the bone|bone tumors|rare bone tumor|osseous neoplasm|neoplasm of bone|tumor of the bone Orphanet:68411|ONCOTREE:BONE|NCIT:C9343|GARD:0013223 owl:Class GO:0010558 biolink:NamedThing negative regulation of macromolecule biosynthetic process Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010556 biolink:NamedThing regulation of macromolecule biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001543 biolink:NamedThing popliteal lymph node the lymph nodes which drain the legs; contained in the popliteal fossa tmpak2llvmy_mondo_relaxed.owl popliteal lymph node|popliteal glands|popliteal lymph glands owl:Class UBERON:0003968 biolink:NamedThing peripheral lymph node The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008168 biolink:NamedThing ovarian fibroma A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. tmpak2llvmy_mondo_relaxed.owl fibroma of ovary|ovarian fibroma (disease)|fibroma of the ovary|ovarian fibroma|ovarian fibromata ovarian fibroma (disease) NCIT:C3498|MESH:C562391|ICD10:D27|Orphanet:314473|HP:0010618|SCTID:254865006|OMIM:166970|UMLS:C0149951|MedDRA:10064257 owl:Class MONDO:0013889 biolink:NamedThing short stature-optic atrophy-Pelger-HuC+t anomaly syndrome tmpak2llvmy_mondo_relaxed.owl soph syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly|short stature-optic atrophy-Pelger-HuC+t anomaly syndrome|short stature-optic atrophy-Pelger-Huët anomaly syndrome|short stature with optic atrophy and Pelger-Huët anomaly syndrome|soph ICD10:Q87.1|OMIM:614800|Orphanet:391677|UMLS:C3541319|GARD:0010945 owl:Class MONDO:0001852 biolink:NamedThing small intestine lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestine lymphoma|lymphoma of small bowel|lymphoma of the small bowel|lymphoma of the small intestine|lymphoma of small intestine|small bowel lymphoma|primary small intestinal lymphoma|small intestinal lymphoma NCIT:C4007|ICD9:202.80|SCTID:449074003|DOID:13996|UMLS:C0278805 owl:Class MONDO:0012593 biolink:NamedThing brain-lung-thyroid syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). tmpak2llvmy_mondo_relaxed.owl choreoathetosis-hypothyroidism-neonatal respiratory distress|CAHTP|brain-lung-thyroid syndrome|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|BLT syndrome MESH:C567034|Orphanet:209905|GARD:0012163|ICD10:E03.1|OMIM:610978|SCTID:719098007 https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome owl:Class MONDO:0015052 biolink:NamedThing primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. tmpak2llvmy_mondo_relaxed.owl primary ILD specific to childhood due to pulmonary surfactant protein anomalies 2022-03-01 Orphanet:100049|UMLS:CN197343 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary interstitial lung disease specific to childhood' MONDO_0017015 owl:Class CHEBI:22693 biolink:NamedThing barbiturates Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure. tmpak2llvmy_mondo_relaxed.owl barbituric acids|barbiturates owl:Class CHEBI:38337 biolink:NamedThing pyrimidone A pyrimidine carrying one or more oxo substituents. tmpak2llvmy_mondo_relaxed.owl pyrimidones owl:Class MONDO:0006583 biolink:NamedThing necrobiosis lipoidica Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. tmpak2llvmy_mondo_relaxed.owl necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly) GARD:0013040|UMLS:C0027538|MESH:D009335|EFO:1000738|Wikipedia:Necrobiosis_lipoidica|SCTID:9418005|DOID:3486|Orphanet:542592|ICD10:L92.1|NCIT:C34840 https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica owl:Class MONDO:0021154 biolink:NamedThing dermis disease A disease that involves the dermis. tmpak2llvmy_mondo_relaxed.owl dermis disease|disease of dermis|other dermis disorder|disease or disorder of dermis|dermis disease or disorder|disorder of dermis Orphanet:79381|UMLS:CN227618 owl:Class MONDO:0006285 biolink:NamedThing major salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpak2llvmy_mondo_relaxed.owl major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of Major salivary gland|carcinoma ex pleomorphic adenoma of the Major salivary gland|major salivary gland salivary gland carcinoma ex pleomorphic adenoma NCIT:C5975|UMLS:C1334550|EFO:1000345 owl:Class MONDO:0006403 biolink:NamedThing salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpak2llvmy_mondo_relaxed.owl pleomorphic adenoma carcinoma|saliva-secreting gland carcinoma ex pleomorphic adenoma|salivary gland carcinoma ex pleomorphic adenoma EFO:1000516|UMLS:C1519172|DOID:297|NCIT:C40410 Editor note: DO class placed here as it denotes a salivary gland specific form owl:Class MONDO:0030852 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities tmpak2llvmy_mondo_relaxed.owl NEDFASB OMIM:619103 owl:Class ECTO:0000657 biolink:NamedThing exposure to disinfectant An exposure to disinfectant. tmpak2llvmy_mondo_relaxed.owl exposure to disinfectant owl:Class MONDO:0017909 biolink:NamedThing inherited glutathione synthetase deficiency Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. tmpak2llvmy_mondo_relaxed.owl oxoprolinase deficiency|glutathione synthetase deficiency|pyroglutamic aciduria|inborn glutathione synthase activity disorder|GSSD|inborn error of glutathione synthase activity|rare inborn error of glutathione synthase activity|inherited glutathione synthetase deficiency|5-oxoprolinuria|pyroglutamicaciduria UMLS:C0398746|GARD:0010047|Orphanet:32|MESH:C536835|SCTID:234589002|ICD10:D55.1|NCIT:C128193 owl:Class MONDO:0020105 biolink:NamedThing hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:D55.1|Orphanet:98370 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0007949 biolink:NamedThing Marshall syndrome Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. tmpak2llvmy_mondo_relaxed.owl MRSHS|Marshall syndrome|deafness, myopia, cataract, saddle nose-Marshall type UMLS:C0265235|DOID:0111510|MESH:C536025|GARD:0006984|ICD9:759.89|SCTID:33410002|NCIT:C128115|OMIM:154780|ICD10:Q87.0|Orphanet:560 owl:Class MONDO:0009696 biolink:NamedThing juvenile myoclonic epilepsy Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). tmpak2llvmy_mondo_relaxed.owl JME|epilepsy, myoclonic juvenile|Petit Mal, impulsive|Janz syndrome|EJM|myoclonic epilepsy, juvenile, 1|myoclonic epilepsy, juvenile|juvenile myoclonus epilepsy|myoclonic epilepsy, juvenile, susceptibility to, 1 MESH:D020190|OMIMPS:254770|DOID:4890|SCTID:6204001|NCIT:C84796|Orphanet:307|GARD:0006808|ICD9:345.10|EFO:0006572|MedDRA:10071082|UMLS:C0270853|ICD10:G40.3 https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy owl:Class MONDO:0100030 biolink:NamedThing adolescent/adult-onset epilepsy syndrome An epilepsy syndrome that has an onset during the adolescent or adult stage of life. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 01:43:18+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0000966 biolink:NamedThing pleomorphic lipoma A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. tmpak2llvmy_mondo_relaxed.owl pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality) SCTID:404059000|DOID:10192|NCIT:C3703|UMLS:C0205823|ICDO:8854/0 owl:Class MONDO:0005106 biolink:NamedThing lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. tmpak2llvmy_mondo_relaxed.owl benign tumor of adipose tissue|multiple lipomatosis|lipomatous tumor|lipoma, benign|lipomatosis, familial multiple|lipomatous neoplasm|lipoma|lipomatous neoplasm (morphologic abnormality) DOID:3315|EFO:0000759|MESH:D008067|ICDO:8850/0|ICD10:D17.9|ICD9:214.9|ICD10:D17|UMLS:C0023798|SCTID:93163002|NCIT:C3192|ICD9:214 owl:Class MONDO:0032877 biolink:NamedThing neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures tmpak2llvmy_mondo_relaxed.owl NEDBAS|neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures|NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES OMIM:618709 owl:Class MONDO:0021736 biolink:NamedThing proctosigmoiditis Inflammation of the sigmoid colon and rectum. tmpak2llvmy_mondo_relaxed.owl proctosigmoiditis|rectosigmoiditis|Rectosigmoiditis|Proctosigmoiditis ICD9:569.89|UMLS:C0033252|SCTID:41364008|NCIT:C34950 owl:Class MONDO:0024278 biolink:NamedThing proctocolitis Inflammation of the rectum and colon. tmpak2llvmy_mondo_relaxed.owl proctocolitis|colorectum inflammation|inflammation of colorectum SCTID:418130002|NCIT:C77952|UMLS:C0033247 owl:Class HGNC:12765 biolink:NamedThing FOXN1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001257 biolink:NamedThing Spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. tmpak2llvmy_mondo_relaxed.owl Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm|Muscular spasticity MSH:D009128|SNOMEDCT_US:221360009|SNOMEDCT_US:397790002|UMLS:C0026838 human_phenotype owl:Class HP:0001276 biolink:NamedThing Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. tmpak2llvmy_mondo_relaxed.owl Muscle hypertonia|Hypertonicity|Increased muscle tone|Spasticity and rigidity of muscles SNOMEDCT_US:56731001|MSH:D009122|SNOMEDCT_US:41581000|UMLS:C0026826 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. HP:0002388 human_phenotype owl:Class CL:1000606 biolink:NamedThing kidney nerve cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001015 cell owl:Class CL:1000500 biolink:NamedThing kidney interstitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001013 cell owl:Class MONDO:0018476 biolink:NamedThing dystonia-aphonia syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN237465|Orphanet:412217|ICD10:G24.8 owl:Class MONDO:0018329 biolink:NamedThing persistent combined dystonia tmpak2llvmy_mondo_relaxed.owl Orphanet:391711|ICD10:G24.1 owl:Class MONDO:0018860 biolink:NamedThing microlissencephaly-micromelia syndrome Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. tmpak2llvmy_mondo_relaxed.owl Basel-Vanagaite-Sirota syndrome Orphanet:50810|UMLS:CN205181|ICD10:Q04.3 owl:Class MONDO:0011164 biolink:NamedThing malignant hyperthermia, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl malignant hyperthermia, susceptibility to, type 6|Mhs6|MHS6|malignant hyperthermia, susceptibility to, 6|malignant hyperpyrexia susceptibility type 6|malignant hyperthermia susceptibility type 6 MESH:C535699|GARD:0003368|OMIM:601888 https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 owl:Class MONDO:0018493 biolink:NamedThing malignant hyperthermia of anesthesia Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. tmpak2llvmy_mondo_relaxed.owl anesthesia related hyperthermia|malignant hyperthermia of anesthesia|malignant hyperpyrexia due to anesthesia|hyperthermia of anesthesia|malignant hyperpyrexia|malignant hyperthermia|malignant hyperthermia syndrome Orphanet:423|ICD10:T88.3|NCIT:C84869|MedDRA:10020844|SCTID:405501007|ICD9:995.86|UMLS:C0024591|MESH:D008305|HP:0002047|DOID:8545|OMIMPS:145600 owl:Class MONDO:0008894 biolink:NamedThing cataract-hypertrichosis-intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl cataract, hypertrichosis, mental retardation syndrome|cataract, hypertrichosis, intellectual disability syndrome|CAHMR syndrome SCTID:722379001|MESH:C537959|Orphanet:1375|OMIM:211770|ICD10:Q87.8|UMLS:C0796282 owl:Class MONDO:0004588 biolink:NamedThing night blindness Inability to see clearly in dim light. tmpak2llvmy_mondo_relaxed.owl nyctalopia ICD9:368.6|ICD10:H53.60|MESH:D009755|SCTID:65194006|UMLS:C0028077|ICD9:368.69|ICD9:368.60|DOID:8499|NCIT:C34850|ICD10:H53.6 owl:Class HGNC:572 biolink:NamedThing AP4B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007384 biolink:NamedThing congenital trigeminal anesthesia Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). tmpak2llvmy_mondo_relaxed.owl familial trigeminal anesthesia|trigeminal anesthesia, familial|corneal hypesthesia, familial Orphanet:231013|SCTID:763218005|ICD10:G50.8|GARD:0010034|MESH:C536440|UMLS:C1852541|OMIM:122450 owl:Class MONDO:0012803 biolink:NamedThing diarrhea-vomiting due to trehalase deficiency This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. tmpak2llvmy_mondo_relaxed.owl trehalose intolerance|trehalase deficiency|isolated trehalose intolerance GARD:0010372|Orphanet:103909|ICD10:E74.3|OMIM:612119|UMLS:C0268187|SCTID:84193000|MESH:C562603|ICD9:271.8 owl:Class MONDO:0016479 biolink:NamedThing silver-Russell syndrome due to 7p11.2p13 microduplication tmpak2llvmy_mondo_relaxed.owl Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to trisomy 7p11.2p13|Silver-Russell syndrome due to 7p11.2-p13 microduplication UMLS:CN201474|ICD10:Q87.1|Orphanet:231137 owl:Class MONDO:0016944 biolink:NamedThing partial duplication of the short arm of chromosome 7 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl trisomy 7p|partial duplication of the short arm of chromosome type 7|chromosome 7p duplication|7p trisomy|partial trisomy of chromosome 7p|partial trisomy of the short arm of chromosome 7|Duplication 7p|partial duplication of chromosome 7p|partial trisomy 7p|7p duplication UMLS:C0795820|GARD:0005355|Orphanet:262749|MESH:C537819 owl:Class MONDO:0019228 biolink:NamedThing inborn disorder of histidine metabolism An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of histidine metabolic process|inborn error of histidine metabolism|histidine metabolism disease|inborn error of histidine metabolic process|disturbances of histidine metabolism|disorder of histidine metabolism|inborn histidine metabolic process disorder ICD9:270.5|DOID:9265|Orphanet:79181|ICD10:E70.8|ICD10:E70.4|ICD10:E70.40 owl:Class MONDO:0010992 biolink:NamedThing Ayme-Gripp syndrome tmpak2llvmy_mondo_relaxed.owl cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|Aymé-Gripp syndrome|AYME-Gripp syndrome|AYGRP|Ayme-Gripp syndrome EFO:0009020|OMIM:601088|Orphanet:477668|MESH:C563390|DOID:0111688|UMLS:C1832812 owl:Class GO:0044283 biolink:NamedThing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpak2llvmy_mondo_relaxed.owl small molecule biosynthesis owl:Class FOODON:03412611 biolink:NamedThing doe (goat) A female goat tmpak2llvmy_mondo_relaxed.owl nanny goat owl:Class NCBITaxon:9925 biolink:NamedThing Capra hircus tmpak2llvmy_mondo_relaxed.owl goat|goats|domestic goat|Capra aegagrus hircus|Capra hircus Linnaeus, 1758 GC_ID:1 NCBITaxon:57076 ncbi_taxonomy owl:Class PATO:0000964 biolink:NamedThing transparent A optical quality inhering in a bearer by virtue of the bearer's lacking opacity. tmpak2llvmy_mondo_relaxed.owl hyaline|clear owl:Class PATO:0000957 biolink:NamedThing opacity An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020196 biolink:NamedThing anomaly of the secretory and excretory apparatus of the lacrimal system tmpak2llvmy_mondo_relaxed.owl Orphanet:98608 owl:Class MONDO:0011251 biolink:NamedThing facial dysmorphism, cleft palate, hearing loss, and camptodactyly tmpak2llvmy_mondo_relaxed.owl facial dysmorphism, cleft palate, hearing loss, and camptodactyly MESH:C566524|UMLS:C1865203|OMIM:602556 owl:Class MONDO:0012723 biolink:NamedThing Leber congenital amaurosis 10 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene. tmpak2llvmy_mondo_relaxed.owl LCA10|Leber congenital amaurosis 10|amaurosis congenita of Leber, type 10|CEP290 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis type 10 ICD10:H35.5|GARD:0010487|OMIM:611755|MESH:C565720|DOID:0110291 https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10 owl:Class MONDO:0016016 biolink:NamedThing toluene embryopathy Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. tmpak2llvmy_mondo_relaxed.owl Hersh Podruch Weisskopk syndrome|toluene embryopathy|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency Orphanet:1920|UMLS:C2931737|MESH:C538114|ICD10:Q86.8|GARD:0002672 owl:Class MONDO:0016677 biolink:NamedThing toxic or drug-related embryofetopathy Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. tmpak2llvmy_mondo_relaxed.owl Orphanet:251529|MESH:D000014 owl:Class UBERON:0009974 biolink:NamedThing lumen of Rathke's pouch An anatomical cavity that surrounded_by a Rathke's pouch. tmpak2llvmy_mondo_relaxed.owl Rathkes pouch invagination owl:Class GO:0045906 biolink:NamedThing negative regulation of vasoconstriction Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction. tmpak2llvmy_mondo_relaxed.owl inhibition of vasoconstriction|down regulation of vasoconstriction|down-regulation of vasoconstriction|downregulation of vasoconstriction owl:Class GO:0001217 biolink:NamedThing DNA-binding transcription repressor activity A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets. tmpak2llvmy_mondo_relaxed.owl bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|copper ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding|bacterial-type DNA binding transcription repressor activity|transcriptional repressor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, cadmium ion regulated sequence-specific DNA binding|transcriptional repressor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|cadmium ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, copper ion regulated sequence-specific DNA binding owl:Class GO:0003700 biolink:NamedThing DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. tmpak2llvmy_mondo_relaxed.owl metal ion regulated sequence-specific DNA binding transcription factor activity|nucleic acid binding transcription factor activity|gene-specific transcription factor activity|transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|sequence-specific DNA binding transcription factor activity|bacterial-type DNA binding transcription factor activity|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding|DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity owl:Class MONDO:0011002 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6A Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary motor and sensory, type VIA|neuropathy, hereditary motor and sensory, type 6|Charcot-Marie-Tooth disease, type 6A|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|peripheral neuropathy and optic atrophy|Charcot-Marie-Tooth disease, type 6|MFN2 hereditary motor and sensory neuropathy type 6|HMSN6A|HMSN 6A OMIM:601152 owl:Class MONDO:0002316 biolink:NamedThing motor peripheral neuropathy Inflammation or degeneration of the peripheral motor nerves. tmpak2llvmy_mondo_relaxed.owl neuropathic muscular atrophy|hereditary motor and sensory neuropathy|HSMN|HSMN - hereditary sensory and motor neuropathy|peripheral motor neuropathy NCIT:C3500|DOID:2477|ICD9:356.9|ICD10:G60.0|SCTID:95663000 owl:Class GO:0004252 biolink:NamedThing serine-type endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpak2llvmy_mondo_relaxed.owl blood coagulation factor activity|serine elastase activity owl:Class GO:0004175 biolink:NamedThing endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. tmpak2llvmy_mondo_relaxed.owl proteasome endopeptidase activity|endoprotease activity|proteinase|elastase activity owl:Class MONDO:0018480 biolink:NamedThing carcinoma of esophagus, salivary gland type tmpak2llvmy_mondo_relaxed.owl esophageal carcinoma, salivary gland type ICD10:C15.0|ICD10:C15.4|ICD10:C15.2|ICD10:C15.5|Orphanet:418945|UMLS:CN237468|ICD10:C15.3|ICD10:C15.1|ICD10:C15.8 owl:Class MONDO:0019086 biolink:NamedThing carcinoma of esophagus Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). tmpak2llvmy_mondo_relaxed.owl cancer of the esophagus|esophageal carcinoma|carcinoma of esophagus|carcinoma of oesophagus|cancer of oesophagus|esophagus carcinoma|esophageal cancer, NOS|cancer of esophagus|carcinoma of the esophagus|esophageal cancer MedDRA:10030155|SCTID:372138000|NCIT:C3513|EFO:0002916|Orphanet:70482|UMLS:C0152018|DOID:1107 owl:Class UBERON:0010212 biolink:NamedThing laryngeal apparatus Apparatus located between the lungs and the buccal cavity. This apparatus is composed of a pair of arytenoid cartilages that are supported by the cricoid ring. tmpak2llvmy_mondo_relaxed.owl laryngeal cartilage system owl:Class UBERON:0034921 biolink:NamedThing multi organ part structure An multicellular anatomical structure that has subparts of multiple organs as a part. tmpak2llvmy_mondo_relaxed.owl anatomical cluster owl:Class ENVO:01001288 biolink:NamedThing kaolin dust Dust which is primarily composed of kaolinite particles. tmpak2llvmy_mondo_relaxed.owl kaolinite dust owl:Class ENVO:02000100 biolink:NamedThing mineral dust Dust which is derived from mineral material. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010054 biolink:NamedThing spinal muscular atrophy with intellectual disability tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy with intellectual disability|spinal muscular atrophy with mental retardation OMIM:271109|UMLS:C1849109|MESH:C564807 owl:Class MONDO:0016040 biolink:NamedThing harlequin syndrome Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. tmpak2llvmy_mondo_relaxed.owl sudden onset of unilateral flushing and sweating|unilateral loss of facial flushing and sweating with contralateral anhidrosis|progressive isolated segmental anhidrosis ICD9:705.89|UMLS:C2029348|Orphanet:199282|SCTID:14070001000004105|MESH:C535634|ICD10:G90.8|GARD:0008610 https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome owl:Class MONDO:0001292 biolink:NamedThing autonomic nervous system disease A disease involving the autonomic nervous system. tmpak2llvmy_mondo_relaxed.owl segmental autonomic dysfunctions|disorder of peripheral autonomic nervous system|nervous system diseases, sympathetic|disease or disorder of autonomic nervous system|disorders of the autonomic nervous system|disorder of autonomic nervous system|autonomic nervous system disorder|autonomic nervous system disorders|ANS (autonomic nervous system) diseases|autonomic nervous disease|ANS disease|autonomic peripheral nervous system diseases|autonomic central nervous system diseases|autonomic disease|disorder of the autonomic nervous system|nervous system diseases, autonomic|peripheral autonomic nervous system diseases|central autonomic nervous system diseases|ANS diseases|autonomic nervous system disease|disease of autonomic nervous system|autonomic diseases|segmental autonomic dysfunction|autonomic dysfunctions, segmental|dysautonomia|autonomic dysfunction, segmental|autonomic nervous system disease or disorder SCTID:128123007|DOID:11465|SCTID:15241006|MESH:D001342|ICD9:337.1|ICD9:337.9 Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html owl:Class CL:0000300 biolink:NamedThing gamete A mature sexual reproductive cell having a single set of unpaired chromosomes. tmpak2llvmy_mondo_relaxed.owl haploid germ cell|haploid nucleated cell FBbt:00005412|CALOHA:TS-0395|FMA:18649 cell owl:Class CL:0000413 biolink:NamedThing haploid cell A cell whose nucleus contains a single haploid genome. tmpak2llvmy_mondo_relaxed.owl cell owl:Class NCBITaxon:27871 biolink:NamedThing Plagiorchiida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6179 biolink:NamedThing Digenea tmpak2llvmy_mondo_relaxed.owl Digenea|flukes GC_ID:1 ncbi_taxonomy owl:Class HGNC:18658 biolink:NamedThing NUP205 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005944 biolink:NamedThing axial skeleton plus cranial skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. tmpak2llvmy_mondo_relaxed.owl skeleton axiale owl:Class MONDO:0019027 biolink:NamedThing otopalatodigital syndrome Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. tmpak2llvmy_mondo_relaxed.owl Taybi syndrome|type 2 (Andre syndrome)|oto-palato-digital syndrome|oto-palatal-digital syndrome ICD10:Q87.0|UMLS:CN205496|Orphanet:669|SCTID:767130007|GARD:0007293 owl:Class HGNC:33235 biolink:NamedThing PWRN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012072 biolink:NamedThing palatal part of dermatocranium tmpak2llvmy_mondo_relaxed.owl palatal series|dermatocranium, palatal series owl:Class UBERON:0000075 biolink:NamedThing subdivision of skeletal system Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. tmpak2llvmy_mondo_relaxed.owl skeletal system part|skeletal system subdivision owl:Class NCBITaxon:43750 biolink:NamedThing Sciomyzoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43741 biolink:NamedThing Acalyptratae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013644 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2O Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2O|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|autosomal dominant Charcot-Marie-Tooth disease type 2O|DYNC1H1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|Charcot-Marie-Tooth neuropathy, axonal, type 2O|CMT2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|Charcot-Marie-Tooth disease, axonal, type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O UMLS:C3280220|OMIM:614228|DOID:0110175|ICD10:G60.0|Orphanet:284232|GARD:0012434 owl:Class MONDO:0003361 biolink:NamedThing small intestinal sarcoma A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. tmpak2llvmy_mondo_relaxed.owl small intestine sarcoma|small bowel sarcoma|sarcoma of small intestine|sarcoma of small bowel|sarcoma of the small bowel|sarcoma, small intestinal|sarcoma of the small intestine|small intestinal sarcoma NCIT:C5335|DOID:5272|UMLS:C1336007 owl:Class GO:0033036 biolink:NamedThing macromolecule localization Any process in which a macromolecule is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl macromolecule localisation owl:Class GO:0051179 biolink:NamedThing localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. tmpak2llvmy_mondo_relaxed.owl establishment and maintenance of substance location|localisation|single-organism localization|establishment and maintenance of substrate location|establishment and maintenance of cellular component location|single organism localization|establishment and maintenance of position|establishment and maintenance of localization owl:Class MONDO:0006316 biolink:NamedThing neuroblastic tumor A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. tmpak2llvmy_mondo_relaxed.owl neuroblastic tumor EFO:1000393|NCIT:C6963|UMLS:C1334953 owl:Class UBERON:0005563 biolink:NamedThing trigeminal neural crest Cranial neural crest which gives rise to the trigeminal ganglion. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007530 biolink:NamedThing migrating mesenchyme population Mesenchymal cells that are migrating. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017123 biolink:NamedThing arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. tmpak2llvmy_mondo_relaxed.owl arthrogryposis, renal dysfunction, and cholestasis|ARC syndrome|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome GARD:0000794|SCTID:720513002|MESH:C535382|OMIMPS:208085|DOID:0050763|ICD10:Q89.7|Orphanet:2697 owl:Class MONDO:0012443 biolink:NamedThing aneurysm, intracranial berry, 4 tmpak2llvmy_mondo_relaxed.owl ANIB4|aneurysm, intracranial BERRY, 4 OMIM:610213|UMLS:C1857749|MESH:C565700 owl:Class MONDO:0016483 biolink:NamedThing intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. tmpak2llvmy_mondo_relaxed.owl familial aneurysmal subarachnoid hemorrhage|familial intracranial saccular aneurysm|saccular cerebral aneurysm|familial cerebral saccular aneurysm|aneurysm, intracranial berry|familial berry aneurysm Orphanet:231160|OMIMPS:105800|ICD10:I60.7|SCTID:703226008|UMLS:CN230268|ICD10:I67.1|HP:0007029|DOID:0060228 owl:Class MONDO:0018640 biolink:NamedThing secondary vasculitis tmpak2llvmy_mondo_relaxed.owl Orphanet:445197 owl:Class MONDO:0018882 biolink:NamedThing vasculitis Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. tmpak2llvmy_mondo_relaxed.owl systemic vasculitis|angiitis MedDRA:10047115|MESH:D014657|DOID:865|GARD:0009565|Wikipedia:Vasculitis|Orphanet:52759|SCTID:31996006|MedDRA:10036023|NCIT:C26912|UMLS:C0042384|EFO:0006803 owl:Class MONDO:0004944 biolink:NamedThing neurosyphilis Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. tmpak2llvmy_mondo_relaxed.owl tertiary neurosyphilis|neurosyphilis|late neurosyphilis DOID:9988|SCTID:26039008|UMLS:C0027927|ICD9:094|GARD:0008729|ICD9:094.89|ICD9:094.9|ICD10:A52.3|NCIT:C84935 owl:Class MONDO:0004497 biolink:NamedThing tertiary syphilis A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). tmpak2llvmy_mondo_relaxed.owl tertiary syphilis|late syphilis|late tertiary syphilis ICD9:095.9|ICD10:A52.3|SCTID:72083004|NCIT:C128414|UMLS:C0153188|ICD10:A52.9|DOID:8200|ICD10:A52|MESH:C536774|ICD9:095.8|ICD9:097.0 owl:Class MONDO:0011995 biolink:NamedThing cataract - congenital heart disease - neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. tmpak2llvmy_mondo_relaxed.owl craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation MESH:C564271|UMLS:C1842363|OMIM:608227|Orphanet:314993 owl:Class MONDO:0021230 biolink:NamedThing uterine cervix neoplasm A neoplasm (disease) that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl neoplasm of cervix uteri|neoplasm of the cervix|tumor of the cervix|tumor of the cervix uteri|neoplasm of uterine cervix|cervical tumor|tumor of cervix|cervix uteri tumor|tumor of cervix uteri|neoplasm of the cervix uteri|cervix|uterine cervix neoplasm (disease)|tumor of uterine cervix|cervix uteri neoplasm|cervix tumor|uterine cervix tumor|neoplasm of the uterine cervix|cervix neoplasm|neoplasm of cervix|tumor of the uterine cervix|Cervical neoplasm NCIT:C2940|ONCOTREE:CERVIX owl:Class GO:0032502 biolink:NamedThing developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. tmpak2llvmy_mondo_relaxed.owl single-organism developmental process|development owl:Class MONDO:0001014 biolink:NamedThing chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpak2llvmy_mondo_relaxed.owl CLL|CML|adult chronic leukemia|chronic leukemia|leukemia (disease), chronic|chronic leukemia (disease) ICD9:208.10|UMLS:C1279296|DOID:1036|SCTID:92812005|NCIT:C3483 owl:Class MONDO:0005059 biolink:NamedThing leukemia A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. tmpak2llvmy_mondo_relaxed.owl leukemias|blood (leukemia)|leukemia, malignant|leukemia|leukemias, general|leukemia, disease|leukemia (disease) leukemia (disease) ICD10:C95.9|ICD10:C95.90|SCTID:93143009|EFO:0000565|HP:0001909|ICDO:9800/3|UMLS:C0023418|ICD9:208.9|ICD10:C95|ICD9:207.8|MESH:D007938|ICD9:207.80|ICD9:208.8|DOID:1240|ICD9:207|NCIT:C3161|ICD9:208|ICD9:208.90|ICD9:208.80 owl:Class ECTO:0600000 biolink:NamedThing exposure to environmental system A exposure event involving the interaction of an exposure receptor to environmental system. tmpak2llvmy_mondo_relaxed.owl environmental system exposure owl:Class MONDO:0007923 biolink:NamedThing macrocephaly, benign familial tmpak2llvmy_mondo_relaxed.owl benign familial macrocephaly|Cole-Hughes syndrome|macrocephaly, benign familial|benign familial megalencephaly OMIM:153470|MESH:C537717|GARD:0000147 https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial owl:Class HGNC:12637 biolink:NamedThing KDM6A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010472 biolink:NamedThing developmental and epileptic encephalopathy, 36 tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type Is|DEE36|CDG-Is|CDG1S|CDG Is|congenital disorder of glycosylation type 1s|EIEE36|CDG syndrome type Is|congenital disorder of glycosylation, type Is|ALG13-CDG|epileptic encephalopathy, early infantile, 36 GARD:0012401|SCTID:733451007|Orphanet:324422|UMLS:C3550904|DOID:0080470|OMIM:300884|ICD10:E77.8 owl:Class MONDO:0018288 biolink:NamedThing congenital disorder of glycosylation with hepatic involvement tmpak2llvmy_mondo_relaxed.owl CDG with hepatic involvement 2022-03-01 ICD10:E77.8|Orphanet:371157 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class UBERON:0016497 biolink:NamedThing epicondyle of humerus A epicondyle that is part of a humerus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005055 biolink:NamedThing zone of long bone An organ part that is part of a long bone [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl long bone zone owl:Class GO:0004363 biolink:NamedThing glutathione synthase activity Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. tmpak2llvmy_mondo_relaxed.owl gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming)|GSH synthetase activity|glutathione synthetase activity owl:Class MONDO:0024454 biolink:NamedThing sacral nerve plexus disease A disease that involves the sacral nerve plexus. tmpak2llvmy_mondo_relaxed.owl sacral nerve plexus disease or disorder|sacral nerve plexus disorder|disease or disorder of sacral nerve plexus|disorder of sacral nerve plexus|sacral plexopathy|disease of sacral nerve plexus MESH:C537224|GARD:0007597|UMLS:C2931445 owl:Class MONDO:0001829 biolink:NamedThing lumbosacral plexus lesion A nerve plexus disease that involves the lumbosacral nerve plexus. tmpak2llvmy_mondo_relaxed.owl nerve plexus disease of lumbosacral nerve plexus|lumbosacral plexus lesions|lumbosacral nerve plexus nerve plexus disease DOID:13913|ICD9:353.1|SCTID:4062006|UMLS:C0154735 owl:Class MONDO:0007330 biolink:NamedThing congenital pseudoarthrosis of clavicle Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle. tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of the clavicle|congenital pseudoarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital SCTID:70794004|Orphanet:66630|ICD10:Q74.0|OMIM:118980|MESH:C562548 owl:Class GO:0007568 biolink:NamedThing aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). tmpak2llvmy_mondo_relaxed.owl ageing owl:Class MONDO:0015686 biolink:NamedThing primary peritoneal carcinoma Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. tmpak2llvmy_mondo_relaxed.owl primary peritoneal serous carcinoma|primary peritoneal carcinoma (disease)|serous surface papillary carcinoma|primary peritoneal cancer|EOPPC|primary peritoneal carcinoma|Extra-ovarian primary peritoneal carcinoma|PPC primary peritoneal carcinoma (disease) NCIT:C40022|Orphanet:168829|ICD10:C48.2|UMLS:CN200184|HP:0030406 owl:Class MONDO:0015683 biolink:NamedThing primary malignant peritoneal tumor tmpak2llvmy_mondo_relaxed.owl ICD10:C48.1|ICD10:C48.2|Orphanet:168807|UMLS:CN200181|ICD10:C45.1 owl:Class NCBITaxon:6199 biolink:NamedThing Cestoda tmpak2llvmy_mondo_relaxed.owl tapeworms GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6157 biolink:NamedThing Platyhelminthes tmpak2llvmy_mondo_relaxed.owl flatworms|flatworm GC_ID:1 ncbi_taxonomy owl:Class GO:0050793 biolink:NamedThing regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015130 biolink:NamedThing connective tissue of prostate gland A portion of connective tissue that is part of a prostate gland. tmpak2llvmy_mondo_relaxed.owl connective tissue of prostate owl:Class HP:0001700 biolink:NamedThing Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:251061000|UMLS:C1442837 human_phenotype owl:Class MONDO:0017146 biolink:NamedThing sickle cell disease and related diseases tmpak2llvmy_mondo_relaxed.owl ICD10:D57.1|ICD10:D57.2|ICD10:D57.3|Orphanet:275752|UMLS:CN202572|ICD10:D57.0|ICD10:D57.8 owl:Class UBERON:0007204 biolink:NamedThing brachiocephalic vasculature The vasculature consisting of brachiocephalic arteries and veins. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002049 biolink:NamedThing vasculature An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. tmpak2llvmy_mondo_relaxed.owl vascular network owl:Class MONDO:0008498 biolink:NamedThing strabismus, susceptibility to tmpak2llvmy_mondo_relaxed.owl strabismus, susceptibility to, 1|strabismus, susceptibility to OMIM:185100|UMLS:C1861449 owl:Class ECTO:0000650 biolink:NamedThing exposure to Bronsted acid An exposure to Bronsted acid. tmpak2llvmy_mondo_relaxed.owl exposure to Bronsted acid owl:Class ECTO:9002146 biolink:NamedThing exposure to acids An exposure to acid. tmpak2llvmy_mondo_relaxed.owl exposure to acid owl:Class GO:0050747 biolink:NamedThing positive regulation of lipoprotein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl stimulation of lipoprotein metabolic process|upregulation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process|up-regulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|activation of lipoprotein metabolic process owl:Class UBERON:0001512 biolink:NamedThing skin of ankle A zone of skin that is part of an ankle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of ankle|ankle zone of skin|tarsal region skin|ankle skin owl:Class MONDO:0003946 biolink:NamedThing vaginal villous adenoma An adenoma that arises from the vagina and is characterized by a villous architectural pattern. tmpak2llvmy_mondo_relaxed.owl vaginal villous adenoma|vagina villous adenoma UMLS:C1519936|DOID:6613|NCIT:C40259 owl:Class MONDO:0000502 biolink:NamedThing villous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. tmpak2llvmy_mondo_relaxed.owl villous adenoma MESH:D018253|NCIT:C7399|UMLS:C0206674|ICDO:8261/0|DOID:0050869 owl:Class MONDO:0014258 biolink:NamedThing congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome tmpak2llvmy_mondo_relaxed.owl Asns deficiency|congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|asparagine synthetase deficiency|ASNSD UMLS:C3809971|ICD10:E72.8|OMIM:615574|Orphanet:391376 owl:Class MONDO:0001268 biolink:NamedThing gingival recession A loss of gum tissue resulting in an exposure of the roots of the teeth. tmpak2llvmy_mondo_relaxed.owl gingival recession, localized|gingival recession, unspecified|gingival recession|moderate gingival recession|minimal gingival recession|severe gingival recession|localized gingival recession SCTID:59898000|ICD9:523.20|MESH:D005889|UMLS:C0017572|ICD9:523.2|DOID:1134|ICD9:523.24|ICD10:K06.0|ICD9:523.21|ICD9:523.22|UMLS:C0266916|ICD9:523.23 owl:Class MONDO:0044997 biolink:NamedThing midbrain disease A disease or disorder that involves the midbrain. tmpak2llvmy_mondo_relaxed.owl disease of midbrain|midbrain disease or disorder|midbrain disease|disorder of midbrain|disease or disorder of midbrain SCTID:95641009|UMLS:C0521655 owl:Class MONDO:0009283 biolink:NamedThing glutaric acidemia type 3 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl SUGCT glutaric aciduria (disease)|glutaric aciduria 3|GA III|glutaric acidemia type 3|GA3|glutaric aciduria type 3|glutaric acidemia type III|Ga 3|glutaryl-Coa oxidase deficiency|glutaric aciduria (disease) caused by mutation in SUGCT|glutaric aciduria III|glutaric aciduria type III|glutaryl-CoA oxidase deficiency GARD:0012469|OMIM:231690|ICD10:E72.3|MESH:C562818|SCTID:238070003|UMLS:C0342873|Orphanet:35706|ICD9:270.2 https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii owl:Class MONDO:0000129 biolink:NamedThing glutaric aciduria tmpak2llvmy_mondo_relaxed.owl glutaric aciduria|glutaric aciduria (disease)|glutaric acidemia glutaric aciduria (disease) ICD9:270.8|HP:0003150|SCTID:28987007|HP:0003530|UMLS:C0268594 Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency owl:Class UBERON:0010982 biolink:NamedThing latissimus dorsi pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005865 biolink:NamedThing pre-muscle condensation tmpak2llvmy_mondo_relaxed.owl pre muscle mass|premuscle mass owl:Class MONDO:0002372 biolink:NamedThing ovarian monodermal and highly specialized teratoma A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. tmpak2llvmy_mondo_relaxed.owl ovarian monodermal and highly specialized teratoma|ovarian germ cell monodermal and highly specialized teratoma UMLS:C0280134|NCIT:C8113|DOID:2641 owl:Class MONDO:0003331 biolink:NamedThing ovarian monodermal teratoma A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. tmpak2llvmy_mondo_relaxed.owl monodermal teratoma|ovarian monodermal teratoma|monodermal teratoma (morphologic abnormality) DOID:5207|UMLS:C1302569|NCIT:C7286 owl:Class UBERON:0001018 biolink:NamedThing axon tract A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. tmpak2llvmy_mondo_relaxed.owl nerve tract|neuraxis tract|tract|tract of neuraxis|axonal tract owl:Class UBERON:0005358 biolink:NamedThing ventricle of nervous system A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord. tmpak2llvmy_mondo_relaxed.owl region of wall of ventricular system of neuraxis|ventricular layer owl:Class FOODON:03420228 biolink:NamedThing extract, concentrate or isolate of plant or animal A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0228 Damion Dooley's note: Items in this branch will be merged into foodon food product branch. http://langual.org owl:Class FOODON:00001714 biolink:NamedThing food product component A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003273 biolink:NamedThing sternum cancer A malignant neoplasm involving the sternum tmpak2llvmy_mondo_relaxed.owl cancer of sternum|malignant tumor of the sternum|malignant tumor of sternum|malignant sternal neoplasm|sternum cancer|malignant sternum neoplasm|neoplasm of sternum|malignant neoplasm of sternum|malignant sternal tumor|malignant neoplasm of the sternum UMLS:C1382025|DOID:5090|NCIT:C8408 owl:Class MONDO:0003274 biolink:NamedThing thoracic cancer A primary or metastatic malignant neoplasm affecting the tissues of the thorax. tmpak2llvmy_mondo_relaxed.owl malignant thoracic neoplasm|malignant tumor of the thorax|malignant thoracic tumor|malignant neoplasm of the thorax|cancer of thoracic segment of trunk|thoracic tumor|thorax neoplasm|malignant tumor of thorax|tumor of thorax|malignant thoracic segment of trunk neoplasm|malignant neoplasm of thoracic segment of trunk|malignant neoplasm of thorax|thorax cancer|thoracic segment of trunk cancer ICD10:C76.1|DOID:5093|NCIT:C3576|SCTID:188361007|UMLS:C0153661|ICD9:195.1 owl:Class MONDO:0004330 biolink:NamedThing leptomeningeal sarcoma A sarcoma arising from the leptomeninges. tmpak2llvmy_mondo_relaxed.owl sarcoma, meningeal|leptomeningeal sarcoma|sarcoma of the leptomeninges|sarcoma of leptomeninx|sarcoma, leptomeningeal, malignant|leptomeninx sarcoma|sarcoma of leptomeninges|leptomeninges sarcoma NCIT:C8312|DOID:7689|UMLS:C1384416 owl:Class MONDO:0003762 biolink:NamedThing malignant leptomeningeal tumor A primary or metastatic malignant tumor involving the leptomeninges. tmpak2llvmy_mondo_relaxed.owl malignant leptomeningeal neoplasm|malignant neoplasm of the leptomeninges|malignant neoplasm of leptomeninges|cancer of leptomeninx|malignant tumor of leptomeninges|leptomeninx cancer|malignant leptomeninx neoplasm|malignant tumor of the leptomeninges|leptomeningeal cancer|malignant leptomeningeal tumor|malignant neoplasm of leptomeninx DOID:6086|NCIT:C8506|UMLS:C1334596 owl:Class MONDO:0010686 biolink:NamedThing N syndrome N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. tmpak2llvmy_mondo_relaxed.owl NSX|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia|N syndrome|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia UMLS:C2936859|OMIM:310465|ICD10:Q87.8|MESH:C536108|GARD:0003902|Orphanet:2608|DOID:0050769|SCTID:723410002 https://rarediseases.info.nih.gov/diseases/3902/n-syndrome owl:Class UBERON:0002048 biolink:NamedThing lung Respiration organ that develops as an outpocketing of the esophagus. tmpak2llvmy_mondo_relaxed.owl pulmo owl:Class UBERON:0005178 biolink:NamedThing thoracic cavity element An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. tmpak2llvmy_mondo_relaxed.owl thoracic cavity organ owl:Class MONDO:0009667 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpak2llvmy_mondo_relaxed.owl MDDGA3|muscle-eye-brain-POMGNT1 related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related UMLS:C3151519|NCIT:C126740|DOID:0111236|OMIM:253280 owl:Class MONDO:0018939 biolink:NamedThing muscle-eye-brain disease A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|muscle eye brain disease|MEB syndrome|Santavuori congenital muscular dystrophy|muscle-eye-brain syndrome|MEB Orphanet:588|GARD:0000156|ICD10:Q04.3|SCTID:277950001|ICD9:742.4 https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease owl:Class GO:0030851 biolink:NamedThing granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. tmpak2llvmy_mondo_relaxed.owl granulocyte cell differentiation owl:Class MONDO:0022869 biolink:NamedThing coronary arteries congenital malformation tmpak2llvmy_mondo_relaxed.owl GARD:0001534 https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation owl:Class MONDO:0060502 biolink:NamedThing neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies tmpak2llvmy_mondo_relaxed.owl NDMSBA|neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies OMIM:617527|UMLS:C4479631|Orphanet:521426 owl:Class UBERON:0004208 biolink:NamedThing nephrogenic mesenchyme Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron tmpak2llvmy_mondo_relaxed.owl nephron mesenchyme|mesenchyme of nephron owl:Class MONDO:0014985 biolink:NamedThing Fanconi anemia complementation group V Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type V|Fanconi Anemia, complementation Group 5|Fanconi anemia, complementation GROUP V|Fanconi Anemia, complementation group type V|Fanconi Anemia, complementation group V|FANCV|MAD2L2 Fanconi anemia|Fanconi anemia caused by mutation in MAD2L2 DOID:0111080|UMLS:C4310652|OMIM:617243 owl:Class MONDO:0018666 biolink:NamedThing hepatoblastoma Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. tmpak2llvmy_mondo_relaxed.owl pediatric embryonal hepatoma|pediatric hepatoblastoma|hepatoblastoma|hepatoblastoma, malignant|HBL ONCOTREE:LIHB|DOID:687|ICD10:C22.2|GARD:0002657|EFO:1000292|Orphanet:449|MedDRA:10062001|NCIT:C3728|ICDO:8970/3|UMLS:C0206624|MESH:D018197 owl:Class MONDO:0005564 biolink:NamedThing embryonal neoplasm A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 tmpak2llvmy_mondo_relaxed.owl embryonal tumor|embryonal neoplasm|embryo neoplasm|EMBT|embryonal cancer UMLS:C0027654|NCIT:C3264|ONCOTREE:EMBT|DOID:688|EFO:0005784 owl:Class MONDO:0006142 biolink:NamedThing cervical small cell carcinoma A small cell carcinoma arising from the cervix. tmpak2llvmy_mondo_relaxed.owl Cervical small cell cancer|cervical small cell carcinoma|small cell carcinoma of cervix uteri|small cell carcinoma of the cervix|small cell carcinoma of cervix|small cell carcinoma of uterine cervix|cervix uteri small cell carcinoma|cervix small cell carcinoma|uterine cervix small cell carcinoma|SCCE|small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix uteri UMLS:C0279674|NCIT:C7982|EFO:1000171|DOID:6740|ONCOTREE:SCCE owl:Class MONDO:0005131 biolink:NamedThing cervical carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma of uterine cervix|carcinoma of the cervix uteri|carcinoma of the uterine cervix|cervix cancer|carcinoma of cervix|carcinoma of cervix uteri|uterine cervix cancer|cervical carcinoma|cervix carcinoma|carcinoma of the cervix|cancer of the cervix|cervix uteri carcinoma|cervical cancer, NOS|cancer of the uterine cervix|cancer of cervix|cervical cancer|carcinoma cervix uteri|cancer of uterine cervix|uterine cervix carcinoma DOID:2893|UMLS:C0302592|NCIT:C9039|SCTID:285432005|EFO:0001061 owl:Class MONDO:0014903 biolink:NamedThing seizures, benign familial infantile, 5 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. tmpak2llvmy_mondo_relaxed.owl benign familial infantile epilepsy caused by mutation in SCN8A|convulsions, benign familial infantile, 5|SCN8A benign familial infantile epilepsy|BFIS5|seizures, benign familial infantile, type 5|seizures, benign familial infantile, 5; BFIS5|seizures, benign familial infantile, 5 UMLS:C4310728|OMIM:617080 owl:Class MONDO:0017615 biolink:NamedThing benign familial infantile epilepsy Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. tmpak2llvmy_mondo_relaxed.owl benign familial infantile seizures|BFIE|benign familial infantile convulsions|seizures, benign familial infantile|benign familial infantile convulsion|BFIS|BFIC ICD10:G40.3|Orphanet:306|ICD9:V17.2|OMIMPS:601764|SCTID:230410004|GARD:0000857|UMLS:CN203492|DOID:0060169 owl:Class MONDO:0013960 biolink:NamedThing sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. tmpak2llvmy_mondo_relaxed.owl sinoatrial node dysfunction and deafness|SANDD UMLS:C3554018|Orphanet:324321|OMIM:614896 owl:Class UBERON:0001814 biolink:NamedThing brachial nerve plexus An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl brachial plexus|plexus brachialis owl:Class MONDO:0015799 biolink:NamedThing Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. tmpak2llvmy_mondo_relaxed.owl Smith McCort dysplasia|Smith-McCort dwarfism MESH:C564589|SCTID:715862006|OMIMPS:607326|Orphanet:178355|ICD10:Q77.7|DOID:0060247|GARD:0010620 https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia owl:Class UBERON:0008819 biolink:NamedThing inferior mediastinum Anterior, middle and posterior mediastinum. tmpak2llvmy_mondo_relaxed.owl inferior mediastinal part of chest owl:Class MONDO:0004896 biolink:NamedThing esotropia A form of strabismus in which one or both eyes are deviated medially. tmpak2llvmy_mondo_relaxed.owl crossed eyes|convergence in manifest squint|internal strabismus SCTID:16596007|ICD10:H50.0|ICD10:H50.00|MESH:D004948|GARD:0008235|ICD9:378.00|ICD9:378.0|DOID:9840|NCIT:C34596|UMLS:C0014877 https://rarediseases.info.nih.gov/diseases/8235/esotropia owl:Class MONDO:0003432 biolink:NamedThing strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. tmpak2llvmy_mondo_relaxed.owl squint|strabismus ICD9:378.40|ICD9:378.7|UMLS:C0038379|NCIT:C35040|SCTID:22066006|ICD10:H50.89|ICD10:H50.8|DOID:540 owl:Class MONDO:0004917 biolink:NamedThing internal hordeolum A hordeolum that results from infection of a meibomian gland. tmpak2llvmy_mondo_relaxed.owl infection of meibomian gland|hordeolum internum|infected chalazion|meibomian adenitis|tarsal gland hordeolum|infected meibomian cyst|hordeolum of tarsal gland|infected cyst of meibomian gland|internal hordeolum ICD10:H00.02|UMLS:C0085690|DOID:9908|ICD9:373.12|SCTID:414521009 owl:Class MONDO:0010247 biolink:NamedThing X-linked cerebral adrenoleukodystrophy A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. tmpak2llvmy_mondo_relaxed.owl childhood-onset cerebral X-linked adrenoleukodystrophy|Addison disease and cerebral sclerosis|ALD childhood cerebral form|X-linked cerebral adrenoleukodystrophy|melanodermic leukodystrophy|Siemerling-Creutzfeldt disease|ALD|adrenoleukodystrophy childhood cerebral form|adrenoleukodystrophy|bronze Schilder disease|adrenoleukodystrophy X-linked cerebral form|adrenomyeloneuropathy|childhood cerebral ALD GARD:0009412|ICD10:E71.3|UMLS:CN036464|UMLS:CN199389|Orphanet:139396 https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy owl:Class UBERON:0004692 biolink:NamedThing external naris epithelium An epithelium that is part of an external naris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008746 biolink:NamedThing oculocutaneous albinism type 2 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. tmpak2llvmy_mondo_relaxed.owl Albinoidism|oculocutaneous albinism, tyrosinase-positive|tyrosinase-positive oculocutaneous albinism|albinism 2|OCA2|oculocutaneous albinism tyrosinase positive|oculocutaneous albinism, type 2|oculocutaneous albinism type II|albinism, Brown oculocutaneous|oculocutaneous albinism type 2|albinism, oculocutaneous, type 2|Brown oculocutaneous albinism|albinism, oculocutaneous, type II GARD:0004038|Orphanet:79432|DOID:0070096|MESH:C537730|UMLS:C0268495|OMIM:203200|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 owl:Class MONDO:0018910 biolink:NamedThing oculocutaneous albinism Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. tmpak2llvmy_mondo_relaxed.owl OCA|albinism, oculocutaneous|non-syndromic oculocutaneous albinism|nonsyndromic oculocutaneous albinism MESH:D016115|DOID:0050632|SCTID:63844009|NCIT:C84941|Orphanet:55|ICD10:E70.3|UMLS:C0078918|ICD9:270.2|GARD:0010958|OMIMPS:203100 https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism owl:Class MONDO:0019873 biolink:NamedThing 4p16.3 microduplication syndrome 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. tmpak2llvmy_mondo_relaxed.owl telomeric duplication 4p|distal trisomy 4p|trisomy 4pter|distal duplication 4p UMLS:C4512053|Orphanet:96072|ICD10:Q92.3|SCTID:726706008|UMLS:CN206808 owl:Class MONDO:0002395 biolink:NamedThing renal adenoma An adenoma arising from the renal cortex. tmpak2llvmy_mondo_relaxed.owl kidney adenoma|renal tubule adenoma|adenoma, renal cell, benign|renal adenoma|renal cell adenoma (morphologic abnormality)|renal cell adenoma UMLS:C0334684|DOID:2697|NCIT:C8383 owl:Class MONDO:0004433 biolink:NamedThing papillary carcinoma of the penis A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. tmpak2llvmy_mondo_relaxed.owl papillary carcinoma of penis|papillary penile carcinoma|squamous carcinoma of the penis, papillary type|papillary squamous carcinoma of the penis|papillary carcinoma of the penis|squamous carcinoma of penis, papillary type|papillary penile squamous carcinoma|papillary squamous carcinoma of penis|penis papillary carcinoma NCIT:C6983|UMLS:C1335322|DOID:8013 owl:Class MONDO:0002979 biolink:NamedThing papillary squamous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. tmpak2llvmy_mondo_relaxed.owl papillary squamous cell carcinoma|papillary squamous carcinoma|papillary epidermoid carcinoma|papillary epidermoid cell carcinoma DOID:4385|UMLS:C0334244|NCIT:C4102|ICDO:8052/3 owl:Class MONDO:0014746 biolink:NamedThing SLC39A8-CDG tmpak2llvmy_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IIn|CDG syndrome type IIn|congenital disorder of glycosylation, type IIn|CDG2N|congenital disorder of glycosylation type 2n|CDG IIn|CDG-IIn|congenital disorder of glycosylation type IIn|SLC39A8 deficiency UMLS:C4225234|UMLS:CN234734|DOID:0070266|OMIM:616721|Orphanet:468699 owl:Class MONDO:0016851 biolink:NamedThing maternal uniparental disomy of chromosome X tmpak2llvmy_mondo_relaxed.owl UPD(X)mat|maternal uniparental disomy of chromosome type X ICD10:Q99.8|Orphanet:261519 owl:Class MONDO:0032850 biolink:NamedThing neurooculocardiogenitourinary syndrome tmpak2llvmy_mondo_relaxed.owl NEUROOCULOCARDIOGENITOURINARY SYNDROME|NOCGUS DOID:0111675|OMIM:618652 owl:Class HGNC:13533 biolink:NamedThing ATP8A2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902339 biolink:NamedThing positive regulation of apoptotic process involved in morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpak2llvmy_mondo_relaxed.owl upregulation of morphogenetic apoptosis|up regulation of morphogenetic apoptosis|activation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in morphogenesis|up regulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in morphogenesis|activation of apoptosis involved in development|upregulation of apoptosis involved in development|positive regulation of apoptosis involved in development|up regulation of apoptotic process involved in morphogenesis|up regulation of apoptosis involved in development|activation of apoptosis involved in morphogenesis|up-regulation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|activation of apoptotic process involved in morphogenesis|up-regulation of morphogenetic apoptosis|positive regulation of apoptosis involved in morphogenesis owl:Class GO:1904747 biolink:NamedThing positive regulation of apoptotic process involved in development Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. tmpak2llvmy_mondo_relaxed.owl up-regulation of apoptotic program involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptotic cell death involved in anatomical structure development|up-regulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|upregulation of apoptosis involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|positive regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in anatomical structure development|activation of apoptotic process involved in anatomical structure development|upregulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of apoptotic cell death involved in development of an anatomical structure|activation of induction of apoptosis involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|activation of apoptosis activator activity involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|up regulation of commitment to apoptosis involved in anatomical structure development|up-regulation of apoptosis involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in development of an anatomical structure|up-regulation of apoptotic process involved in development of an anatomical structure|upregulation of apoptotic process involved in development|up-regulation of induction of apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in development of an anatomical structure|up regulation of apoptosis signaling involved in anatomical structure development|positive regulation of activation of apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptotic program involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|activation of activation of apoptosis involved in anatomical structure development|upregulation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|positive regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of activation of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|up regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|upregulation of apoptosis involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|activation of apoptosis activator activity involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|upregulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptosis involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|activation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|activation of apoptotic program involved in development of an anatomical structure|positive regulation of apoptosis signaling involved in anatomical structure development|up regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptotic process involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|upregulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptosis involved in anatomical structure development|positive regulation of apoptosis involved in anatomical structure development|up regulation of apoptosis involved in development of an anatomical structure|activation of activation of apoptosis involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|activation of apoptotic process involved in development|positive regulation of commitment to apoptosis involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|up regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in anatomical structure development|upregulation of apoptotic process involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of apoptotic process involved in development of an anatomical structure|activation of type I programmed cell death involved in development of an anatomical structure|upregulation of apoptosis activator activity involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|activation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in anatomical structure development|up-regulation of commitment to apoptosis involved in anatomical structure development|up regulation of apoptotic process involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic cell death involved in anatomical structure development|up-regulation of commitment to apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of apoptotic program involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of type I programmed cell death involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|up-regulation of apoptosis signaling involved in anatomical structure development|up-regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptosis involved in anatomical structure development|activation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptotic program involved in anatomical structure development|up regulation of apoptotic process involved in development owl:Class MONDO:0022937 biolink:NamedThing deafness conductive stapedial ear malformation facial palsy tmpak2llvmy_mondo_relaxed.owl GARD:0001684 https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy owl:Class GO:0060627 biolink:NamedThing regulation of vesicle-mediated transport Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007888 biolink:NamedThing hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. tmpak2llvmy_mondo_relaxed.owl hereditary leiomyomatosis|familial leiomyomatosis cutis et uteri|familial leiomyomatosis and renal cell cancer|familial leiomyomatosis|familial multiple cutaneous leiomyomas|multiple cutaneous and uterine leiomyomata|Reed syndrome|multiple cutaneous and uterine leiomyomas|HLRCC|hereditary leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell carcinoma|hereditary multiple cutaneous leiomyomas|LRCC|MCUL|Reed's syndrome|leiomyomatosis and renal cell cancer, hereditary|hereditary leiomyomatosis and renal cell cancer syndrome|leiomyoma, multiple cutaneous|hereditary leiomyomatosis with renal carcinoma|leiomyomatosis familial|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|familial leiomyomatosis with renal carcinoma|multiple cutaneous leiomyomata UMLS:C1708350|MESH:C535516|UMLS:CN073087|GARD:0010096|UMLS:CN239164|OMIM:150800|NCIT:C51302|Orphanet:523|GARD:0003218|ICD10:C64 https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer owl:Class MONDO:0017127 biolink:NamedThing inherited soft tissue tumor An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic mesenchymal tumor|genetic mesenchymal cell neoplasm|hereditary mesenchymal cell neoplasm|genetic soft tissue tumor UMLS:CN202526|Orphanet:271832 owl:Class HGNC:10589 biolink:NamedThing SCN2B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000737 biolink:NamedThing negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051129 biolink:NamedThing negative regulation of cellular component organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpak2llvmy_mondo_relaxed.owl down-regulation of cell organization|down regulation of cell organization|inhibition of cell organization|downregulation of cell organization|negative regulation of cellular component organization and biogenesis|negative regulation of cell organisation owl:Class MONDO:0005556 biolink:NamedThing lupus nephritis Glomerulonephritis in the context of systemic lupus erythematosus. tmpak2llvmy_mondo_relaxed.owl nephritis, lupus|lupus glomerulonephritis|lupus Glomerulonephritides|Nephritides, lupus|lupus nephritis|Glomerulonephritides, lupus|glomerulonephritis, lupus|lupus Nephritides|SLE nephritis NCIT:C34789|SCTID:68815009|MESH:D008181|DOID:0080162|UMLS:C0024143|GARD:0010747|EFO:0005761 https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis owl:Class GO:2000871 biolink:NamedThing negative regulation of progesterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008933 biolink:NamedThing cephalin lipidosis tmpak2llvmy_mondo_relaxed.owl cephalin lipidosis UMLS:C1859307|OMIM:212800|MESH:C565872 owl:Class GO:0045683 biolink:NamedThing negative regulation of epidermis development Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. tmpak2llvmy_mondo_relaxed.owl downregulation of epidermis development|down-regulation of epidermis development|down regulation of epidermis development|negative regulation of epidermal development|inhibition of epidermis development|negative regulation of hypodermis development owl:Class UBERON:0034926 biolink:NamedThing anatomical row An anatomical collection that is arranged in a line. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034925 biolink:NamedThing anatomical collection A collection of anatomical structures that are alike in terms of their morphology or developmental origin. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000872 biolink:NamedThing positive regulation of progesterone secretion Any process that activates or increases the frequency, rate or extent of progesterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000833 biolink:NamedThing positive regulation of steroid hormone secretion Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004661 biolink:NamedThing trachea carcinoma in situ A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. tmpak2llvmy_mondo_relaxed.owl severe epithelial dysplasia of trachea|carcinoma in situ of the trachea|carcinoma in situ of trachea|trachea in situ carcinoma|tracheal carcinoma in situ|stage 0 trachea carcinoma|trachea carcinoma in situ UMLS:C0154070|SCTID:92772005|ICD9:231.1|DOID:8802|ICD10:D02.1|NCIT:C3639 owl:Class MONDO:0001419 biolink:NamedThing trachea squamous cell carcinoma A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of the trachea|epidermoid carcinoma of trachea|tracheal epidermoid carcinoma|squamous cell carcinoma of trachea|tracheal squamous cell carcinoma|epidermoid carcinoma of the trachea|trachea squamous cell carcinoma|trachea epidermoid carcinoma NCIT:C4448|SCTID:254620000|EFO:1000600|DOID:12003|UMLS:C0345946 owl:Class CL:0002293 biolink:NamedThing epithelial cell of thymus An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. tmpak2llvmy_mondo_relaxed.owl thymic epithelial cell|epithelial reticular cell of thymus|epithelial reticular cell|epithelial cell of thymus gland FMA:72208|CALOHA:TS-1040 tmeehan 2010-09-13T02:34:22Z CL:1000459 cell owl:Class MONDO:0013670 biolink:NamedThing myopia, high, with cataract and vitreoretinal degeneration tmpak2llvmy_mondo_relaxed.owl myopia, high, with cataract and vitreoretinal degeneration|MCVD UMLS:C3280346|OMIM:614292 owl:Class MONDO:0044996 biolink:NamedThing cerebral cortex disease A disease or disorder that involves the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl cerebral cortex disease or disorder|cerebral cortex disease|disease or disorder of cerebral cortex|disorder of cerebral cortex|disease of cerebral cortex SCTID:128128003|UMLS:C1263847 owl:Class UBERON:0009132 biolink:NamedThing peroneus One of a group of three muscles fibularis (peronæus) longus, brevis, and tertius originating on the fibula and inserting on the metatarsals tmpak2llvmy_mondo_relaxed.owl fibularis|peronæus muscle|peroneal muscles|peroneal muscle group|peroneus muscle|fibularis muscle|peroneal muscle owl:Class MONDO:0014356 biolink:NamedThing mitochondrial complex III deficiency nuclear type 7 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex III deficiency, nuclear type 7|mitochondrial Complex 3 deficiency, nuclear type 7|mitochondrial complex III deficiency caused by mutation in UQCC2|UQCC2 mitochondrial complex III deficiency|MC3DN7 DOID:0080116|OMIM:615824|UMLS:C4014408 owl:Class MONDO:0020811 biolink:NamedThing mitochondrial complex III deficiency, nuclear type tmpak2llvmy_mondo_relaxed.owl OMIMPS:124000 owl:Class CHEBI:77938 biolink:NamedThing barbiturate(1-) An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpak2llvmy_mondo_relaxed.owl 2,4,6-trioxohexahydropyrimidin-5-ide|barbiturate owl:Class CHEBI:25696 biolink:NamedThing organic anion Any organic ion with a net negative charge. tmpak2llvmy_mondo_relaxed.owl organic anions owl:Class MONDO:0003118 biolink:NamedThing testicular Brenner tumor An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. tmpak2llvmy_mondo_relaxed.owl testes, rudimentary Brenner tumor|testis Brenner tumor UMLS:C1515281|NCIT:C39953|DOID:4739 owl:Class MONDO:0024235 biolink:NamedThing Brenner tumor A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. tmpak2llvmy_mondo_relaxed.owl Brenner tumor ONCOTREE:BTOV|NCIT:C39954|ICDO:9000/0 owl:Class MONDO:0008699 biolink:NamedThing achalasia microcephaly syndrome Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. tmpak2llvmy_mondo_relaxed.owl achalasia microcephaly|achalasia-microcephaly syndrome DOID:0050796|GARD:0000456|ICD10:Q39.5|UMLS:C1860212|MESH:C536010|OMIM:200450|Orphanet:929|SCTID:718573009 https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome owl:Class CL:0000956 biolink:NamedThing pre-B-I cell A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein. tmpak2llvmy_mondo_relaxed.owl pre-BI cell|pro-B cell (Philadelphia nomenclature) Human pre-B-I cells are reportedly CD10-positive, CD19-positive, CD22-positive, CD38-positive, CD45-low, CD79a-positive, CD127-negative, pre-BCR-negative, IgM-negative, IgD-negative, and Tdt-positive. Transcription factors expressed: Pax5-positive. cell owl:Class CL:0000817 biolink:NamedThing precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive. tmpak2llvmy_mondo_relaxed.owl pre-B cell CALOHA:TS-0819|BTO:0001133 cell owl:Class CL:0002621 biolink:NamedThing gingival epithelial cell tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-14T12:46:28Z cell owl:Class MONDO:0018908 biolink:NamedThing non-Hodgkin lymphoma Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. tmpak2llvmy_mondo_relaxed.owl NHL|non-Hodgkin's lymphoma (NHL)|non-Hodgkin lymphoma|non-Hodgkin's lymphoma|non-Hodgkins lymphoma EFO:0005952|NCIT:C3211|DOID:0060060|ONCOTREE:NHL|UMLS:C0024305|MESH:D008228|ICDO:9591/3|Orphanet:547|MedDRA:10029547 owl:Class MONDO:0011983 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl AITD4|autoimmune thyroid disease, susceptibility to, 4|autoimmune thyroid disease, susceptibility to, type 4 UMLS:C1842443|OMIM:608176 owl:Class MONDO:0000162 biolink:NamedThing autoimmune thyroid disease, susceptibility to tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033007 biolink:NamedThing negative regulation of mast cell activation involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. tmpak2llvmy_mondo_relaxed.owl negative regulation of mast cell activation during immune response owl:Class HGNC:4087 biolink:NamedThing GABRG2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001125 biolink:NamedThing acute gonococcal epididymo-orchitis Acute form of gonococcal epididymo-orchitis. tmpak2llvmy_mondo_relaxed.owl gonococcal epididymo-orchitis, acute|gonococcal epididymo-orchitis (acute) DOID:10802|UMLS:C0153193|ICD9:098.13|SCTID:30168008 owl:Class MONDO:0010279 biolink:NamedThing terminal osseous dysplasia-pigmentary defects syndrome Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. tmpak2llvmy_mondo_relaxed.owl Odpd|Odpf syndrome|TOD|terminal osseous dysplasia and pigmentary defects|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|terminal osseous dysplasia Orphanet:88630|ICD10:Q87.2|OMIM:300244|MESH:C564554|UMLS:C1846129 owl:Class MONDO:0012324 biolink:NamedThing Frias syndrome A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. tmpak2llvmy_mondo_relaxed.owl Frias syndrome|Del(14)(q22q23)|14q22-q23 microdeletion syndrome|monosomy 14q22-q23|monosomy 14q22q23|14q22q23 microdeletion syndrome|Growth deficiency, Facial anomalies, and brachydactyly|chromosome 14Q22 deletion syndrome GARD:0002384|MESH:C535639|Orphanet:264200|OMIM:609640|ICD10:Q93.5|Orphanet:2055|UMLS:C1864825 owl:Class NCBITaxon:33630 biolink:NamedThing Alveolata tmpak2llvmy_mondo_relaxed.owl alveolates GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013324 biolink:NamedThing lymphedema-posterior choanal atresia syndrome tmpak2llvmy_mondo_relaxed.owl choanal atresia and lymphedema|CATLPH OMIM:613611|ICD10:Q82.0|Orphanet:99141|UMLS:C3150875 owl:Class MONDO:0018562 biolink:NamedThing genetic otorhinolaryngological malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:435603 owl:Class UBERON:0001557 biolink:NamedThing upper respiratory tract The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:137982 biolink:NamedThing tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. tmpak2llvmy_mondo_relaxed.owl a tertiary amine|tertiary amine(1+)|tertiary ammonium ions owl:Class CHEBI:25697 biolink:NamedThing organic cation Any organic ion with a net positive charge. tmpak2llvmy_mondo_relaxed.owl organic cations owl:Class MONDO:0010498 biolink:NamedThing MEND syndrome tmpak2llvmy_mondo_relaxed.owl MEND|MEND syndrome|Male EBP disorder with neurological defects|Male EBP disorder with neurologic defects Orphanet:401973|UMLS:C4085243|OMIM:300960|ICD10:Q87.8 owl:Class MONDO:0002065 biolink:NamedThing benign breast adenomyoepithelioma A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation. tmpak2llvmy_mondo_relaxed.owl benign adenomyoepithelioma of the breast|breast adenomyoepithelioma, benign|benign adenomyoepithelioma of breast|benign breast adenomyoepithelioma DOID:1641|UMLS:C1332477|NCIT:C5144 owl:Class MONDO:0002066 biolink:NamedThing breast adenomyoepithelioma A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. tmpak2llvmy_mondo_relaxed.owl BRAME|breast adenomyoepithelioma with malignant change|malignant adenomyoepithelioma of breast|breast adenomyoepithelioma|adenomyoepithelioma of the breast NCIT:C6899|DOID:1642|ONCOTREE:BRAME|UMLS:C1510795|ICDO:8983/0 owl:Class MONDO:0023865 biolink:NamedThing corneal infection A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering. tmpak2llvmy_mondo_relaxed.owl infection of cornea|infective keratitis|keratitis caused by infection|corneal infection Orphanet:519278|SCTID:312428002|UMLS:C0729777|NCIT:C83813 owl:Class MONDO:0016047 biolink:NamedThing endophthalmitis An infectious process affecting the internal structures of the eye. tmpak2llvmy_mondo_relaxed.owl MedDRA:10014801|SCTID:1847009|DOID:4692|ICD10:H44.1|NCIT:C34586|MESH:D009877|ICD9:360.19|Orphanet:199323|ICD10:H44.0|UMLS:C0014236 owl:Class MONDO:0010823 biolink:NamedThing rhizomelic chondrodysplasia punctata type 3 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. tmpak2llvmy_mondo_relaxed.owl alkyldihydroxyacetonephosphate synthase deficiency|rhizomelic chondrodysplasia punctata, type 3|AGPS rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in AGPS|RCDP3|AGPS deficiency|rhizomelic chondrodysplasia punctata type 3|alkylglycerone-phosphate synthase deficiency ICD10:Q77.3|OMIM:600121|GARD:0009682|UMLS:C1838612|DOID:0110853|Orphanet:309803|MESH:C537608 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 owl:Class GO:1902017 biolink:NamedThing regulation of cilium assembly Any process that modulates the frequency, rate or extent of cilium assembly. tmpak2llvmy_mondo_relaxed.owl regulation of ciliogenesis|regulation of cilium biogenesis owl:Class MONDO:0005480 biolink:NamedThing contact dermatitis An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. tmpak2llvmy_mondo_relaxed.owl contact dermatitis/eczema|contact eczema|dermatitis, venenata|contact dermatitis|dermatitis venenata MESH:D003877|ICD10:L25.9|ICD10:L25|SCTID:40275004|UMLS:C0011616|NCIT:C26743|DOID:2773|ICD9:692.9|ICD9:692.89|EFO:0005319 owl:Class MONDO:0018976 biolink:NamedThing schisis association Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. tmpak2llvmy_mondo_relaxed.owl Midline development field defects GARD:0000246|UMLS:C2931271|ICD10:Q87.8|SCTID:718095000|Orphanet:63862|MESH:C536633 https://rarediseases.info.nih.gov/diseases/246/schisis-association owl:Class GO:0022407 biolink:NamedThing regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17759 biolink:NamedThing PDSS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033240 biolink:NamedThing positive regulation of cellular amine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpak2llvmy_mondo_relaxed.owl positive regulation of amine metabolism owl:Class MONDO:0008087 biolink:NamedThing hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. tmpak2llvmy_mondo_relaxed.owl tulip-bulb digger's palsy|tomaculous neuropathy|Tomaculous neuropathy|neuropathy, hereditary, with liability to pressure palsies|polyneuropathy, familial recurrent|HNPP|familial recurrent polyneuropathy|hereditary neuropathy with liability to pressure palsies|heterozygous microdeletion 17p11.2p12|current pressure-sensitive neuropathy|potato-grubbing palsy|hereditary neuropathy with liability to pressure palsy Orphanet:640|MESH:C536965|GARD:0005221|DOID:0060843|SCTID:230558006|ICD10:G60.0|OMIM:162500|MedDRA:10069382 owl:Class MONDO:0015359 biolink:NamedThing autosomal dominant hereditary demyelinating motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl AD demyelinating HMSN UMLS:CN228926|Orphanet:140453|ICD10:G60.0 owl:Class MONDO:0012856 biolink:NamedThing Birk-Barel syndrome Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). tmpak2llvmy_mondo_relaxed.owl Birk Barel intellectual disability dysmorphism syndrome|BIRK-Barel mental retardation dysmorphism syndrome|intellectual disability, Birk-Barel type|intellectual disability-hypotonia-facial dysmorphism syndrome|mental retardation with hypotonia and Facial Dysmorphism|Birk Barel mental retardation dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|BIRK-Barel intellectual disability dysmorphism syndrome|Birk-Barel syndrome ICD10:Q87.8|SCTID:764861005|OMIM:612292|DOID:0050675|Orphanet:166108|UMLS:C2676770|GARD:0010358|MESH:C567357 https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome owl:Class MONDO:0020241 biolink:NamedThing unclassified familial retinal dystrophy tmpak2llvmy_mondo_relaxed.owl 2022-01-01 UMLS:CN227835|Orphanet:98662 Reason: out of scope. Term to consider: MONDO_0019118. MONDO:0019118 owl:Class GO:0045823 biolink:NamedThing positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction. tmpak2llvmy_mondo_relaxed.owl positive regulation of cardiac contraction|up regulation of heart contraction|activation of heart contraction|stimulation of heart contraction|up-regulation of heart contraction|upregulation of heart contraction owl:Class GO:1903524 biolink:NamedThing positive regulation of blood circulation Any process that activates or increases the frequency, rate or extent of blood circulation. tmpak2llvmy_mondo_relaxed.owl activation of blood circulation|up regulation of hemolymph circulation|upregulation of hemolymph circulation|up-regulation of blood circulation|positive regulation of hemolymph circulation|up-regulation of hemolymph circulation|upregulation of blood circulation|up regulation of blood circulation|activation of hemolymph circulation owl:Class MONDO:0005899 biolink:NamedThing parotid disease A disease involving the parotid gland. tmpak2llvmy_mondo_relaxed.owl parotid gland disease|disease or disorder of parotid gland|disease of parotid gland|disorder of parotid gland|parotid gland disease or disorder EFO:0007422|UMLS:C0030579|DOID:10302|MESH:D010305 owl:Class UBERON:0004148 biolink:NamedThing cardiac vein Vein of heart that drains the myocardium tmpak2llvmy_mondo_relaxed.owl coronary vein|vein of heart|cardiac vein|heart vein owl:Class MONDO:0016015 biolink:NamedThing phenobarbital embryopathy A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. tmpak2llvmy_mondo_relaxed.owl phenobarbital antenatal exposure UMLS:C4275281|SCTID:715431002|GARD:0004315|Orphanet:1919|ICD10:Q86.8 owl:Class MONDO:0015323 biolink:NamedThing teratogenic Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl teratogenic Pierre Robin sequence Orphanet:138059|UMLS:CN199294 owl:Class MONDO:0004650 biolink:NamedThing malignant carotid body paraganglioma A carotid body paraganglioma that metastasizes to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl malignant carotid body paraganglioma|malignant tumor of the carotid body|carotid body paraganglioma, malignant|chemodectoma, malignant|malignant neoplasm of the carotid body|carotid body cancer|malignant carotid body tumor (morphologic abnormality)|malignant neoplasm of carotid body|cancer of carotid body|malignant carotid body tumor|malignant carotid body neoplasm|malignant tumor of carotid body ICD10:C75.4|SCTID:447883002|DOID:8731|ICD9:194.5|NCIT:C3574|UMLS:C0153656 owl:Class UBERON:0008946 biolink:NamedThing lung parenchyma A parenchyma that is part of a lung. tmpak2llvmy_mondo_relaxed.owl respiratory portion of lung|parenchyma of lung|pulmonary parenchyma owl:Class MONDO:0021484 biolink:NamedThing benign neoplasm of maxillary sinus A benign neoplasm that involves the maxillary sinus. tmpak2llvmy_mondo_relaxed.owl maxillary sinus benign neoplasm|benign tumor of maxillofacial sinus|benign neoplasm of the maxillary sinus|benign maxillary antrum neoplasm|benign maxillary sinus tumor|benign neoplasm of maxillary antrum|benign maxillary sinus neoplasm|benign neoplasm of the maxillofacial sinus|benign neoplasm of maxillofacial sinus|benign maxillary antrum tumor|benign maxillofacial sinus neoplasm|benign tumor of the maxillary antrum|benign tumor of the maxillary sinus|benign tumor of maxillary antrum|benign tumor of the maxillofacial sinus|benign neoplasm of the maxillary antrum|benign tumor of maxillary sinus|benign maxillofacial sinus tumor UMLS:C0345666|SCTID:92211008|ICD9:212.0|NCIT:C4414 owl:Class MONDO:0016061 biolink:NamedThing immunodeficiency with factor H anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:200421|ICD10:D84.1 owl:Class MONDO:0012350 biolink:NamedThing complement factor H deficiency tmpak2llvmy_mondo_relaxed.owl factor H deficiency|Cfh deficiency|complement factor H deficiency|CFHD SCTID:234622003|ICD9:279.8|OMIM:609814|MESH:C562875 owl:Class MONDO:0003632 biolink:NamedThing endocervicitis Inflammation of the endocervix. tmpak2llvmy_mondo_relaxed.owl inflammation of endocervix|endocervix inflammation UMLS:C0014127|NCIT:C26762|SCTID:31354001|DOID:5757 owl:Class GO:0002696 biolink:NamedThing positive regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. tmpak2llvmy_mondo_relaxed.owl up regulation of leukocyte activation|activation of leukocyte activation|positive regulation of leucocyte activation|positive regulation of immune cell activation|up-regulation of leukocyte activation|stimulation of leukocyte activation|upregulation of leukocyte activation owl:Class MONDO:0002978 biolink:NamedThing orbit alveolar rhabdomyosarcoma A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. tmpak2llvmy_mondo_relaxed.owl alveolar rhabdomyosarcoma of the orbit|alveolar rhabdomyosarcoma of orbit UMLS:C1335126|NCIT:C6247|DOID:4384 owl:Class MONDO:0002580 biolink:NamedThing orbit rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit. tmpak2llvmy_mondo_relaxed.owl orbital region rhabdomyosarcoma|orbital region rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of orbital region|rhabdomyosarcoma of orbit|rhabdomyosarcoma of the orbit SCTID:254994000|UMLS:C0346347|NCIT:C4543|DOID:3259|MESH:C537605 owl:Class GO:0046364 biolink:NamedThing monosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. tmpak2llvmy_mondo_relaxed.owl monosaccharide synthesis|monosaccharide biosynthesis|monosaccharide formation|monosaccharide anabolism owl:Class GO:0005996 biolink:NamedThing monosaccharide metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpak2llvmy_mondo_relaxed.owl monosaccharide metabolism owl:Class MONDO:0003778 biolink:NamedThing primary immunodeficiency disease A disorder in which the immune system is unable to mount an adequate immune response. tmpak2llvmy_mondo_relaxed.owl syndrome, immunologic deficiency|syndromes, antibody deficiency|immunological deficiency syndrome|immune deficiency disorder|antibody deficiency syndrome|immunologic deficiency syndrome|syndromes, immunologic deficiency|deficiency syndrome, immunologic|deficiency syndromes, immunologic|deficiency syndrome, immunological|immunodeficiency syndrome|deficiency syndrome, antibody|immunological deficiency syndromes|syndrome, antibody deficiency|syndrome, immunological deficiency|antibody deficiency syndromes|primary immunodeficiency|hypoimmunity|deficiency syndromes, antibody|deficiency syndromes, immunological|syndromes, immunological deficiency ICD10:D84.9|Orphanet:101997|DOID:612|UMLS:C0021051|KEGG:05340|ICD9:279.3|SCTID:58606001|UMLS:C0398686|MESH:D007153 owl:Class UBERON:0002485 biolink:NamedThing prostate duct The minute canals that pass the prostatic secretions to the urethra. tmpak2llvmy_mondo_relaxed.owl prostatic duct|duct of prostate|duct of prostate gland|prostate duct|prostate gland duct owl:Class MONDO:0011099 biolink:NamedThing human HOXA1 syndromes Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl ABDS|Navajo brainstem syndrome|ABSD|BSAS|Athabascan brainstem dysgenesis syndrome|Human HOXA1 syndromes|Bosley Salih Alorainy syndrome|Bosley-Salih-Alorainy syndrome|Athabaskan brainstem dysgenesis syndrome|Athabaskan brainstem dysgenesis Orphanet:69739|DOID:0050682|SCTID:720518006|GARD:0008333|OMIM:601536|UMLS:C1832215 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class GO:0043393 biolink:NamedThing regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042902 biolink:NamedThing Say-Carpenter syndrome tmpak2llvmy_mondo_relaxed.owl Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias GARD:0000240 owl:Class HGNC:18654 biolink:NamedThing RTTN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004929 biolink:NamedThing submucosa of ascending colon A submucosa that is part of an ascending colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ascending colon submucosa owl:Class HGNC:4390 biolink:NamedThing GNAQ tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036264 biolink:NamedThing zygomaticotemporal nerve The zygomaticotemporal nerve or zygomaticotemporal branch (temporal branch) is derived from the maxillary branch of the trigeminal nerve (Cranial nerve V). It runs along the lateral wall of the orbit in a groove in the zygomatic bone, receives a branch of communication from the lacrimal, and passes through zygomaticotemporal foramen in the zygomatic bone to enter the temporal fossa. It ascends between the bone, and substance of the Temporalis muscle, pierces the temporal fascia about 2.5 cm. above the zygomatic arch, and is distributed to the skin of the side of the forehead, and communicates with the facial nerve and with the auriculotemporal branch of the mandibular nerve. As it pierces the temporal fascia, it gives off a slender twig, which runs between the two layers of the fascia to the lateral angle of the orbit. tmpak2llvmy_mondo_relaxed.owl zygomaticotemporal|ramus zygomaticotemporalis nervus zygomatici|zygomaticotemporal branch|ramus zygomaticotemporalis (Nervus zygomaticus)|zygomaticotemporal branch of zygomatic nerve owl:Class MONDO:0100400 biolink:NamedThing acute myeloid leukemia, t(3;12)(q23;p12.3) Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(3;12)(q23;p12.3) owl:Class MONDO:0004982 biolink:NamedThing pancreatitis Inflammation of the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas inflammation|inflammation of pancreas EFO:0000278|NCIT:C3306|ICD10:K85.9|UMLS:C0030305|SCTID:75694006|DOID:4989|MESH:D010195 owl:Class CL:0002552 biolink:NamedThing fibroblast of gingiva tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:09:12Z cell owl:Class UBERON:0004905 biolink:NamedThing articulation Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts. tmpak2llvmy_mondo_relaxed.owl joint owl:Class MONDO:0013802 biolink:NamedThing infantile cerebellar-retinal degeneration Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. tmpak2llvmy_mondo_relaxed.owl ICRD|infantile cerebellar-retinal degeneration|infantile cerebellar retinal degeneration UMLS:C3281192|Orphanet:313850|ICD10:E88.8|GARD:0013264|OMIM:614559|DOID:0050883 https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration owl:Class MONDO:0009959 biolink:NamedThing peroxisome biogenesis disorder type 3B A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. tmpak2llvmy_mondo_relaxed.owl infantile phytanic acid storage disease|infantile Refsum disease|peroxisome biogenesis disorder type 3B|peroxisome biogenesis disorder 3B|PBD3B ICD10:G60.1|DOID:0050444|OMIM:266510 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100266 biolink:NamedThing peroxisome biogenesis disorder due to PEX12 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX12 defect|PEX12 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class ECTO:4000034 biolink:NamedThing exposure to increased air temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in temperature of air owl:Class ECTO:4000000 biolink:NamedThing exposure to change A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of quality. tmpak2llvmy_mondo_relaxed.owl exposure to deviation (from_normal) in quality owl:Class MONDO:0002554 biolink:NamedThing sympathetic neurilemmoma A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. tmpak2llvmy_mondo_relaxed.owl sympathetic schwannoma DOID:3201|NCIT:C5421|UMLS:C1336543 owl:Class MONDO:0002366 biolink:NamedThing autonomic nervous system neoplasm Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system. tmpak2llvmy_mondo_relaxed.owl autonomic nervous system neoplasm|tumor of the autonomic nervous system|neoplasm of the autonomic nervous system|autonomic nervous system tumor|autonomic nervous system neoplasm (disease)|autonomic nervous system neoplasms|tumor of autonomic nervous system|neoplasm of autonomic nervous system NCIT:C5112|UMLS:C1332356|DOID:2621 owl:Class MONDO:0003450 biolink:NamedThing eccrine papillary adenoma A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. tmpak2llvmy_mondo_relaxed.owl eccrine papillary adenoma of skin|Papillary eccrine adenoma SCTID:253021007|DOID:5446|GARD:0010463|ICDO:8408/0|NCIT:C4173|UMLS:C0334350 https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma owl:Class MONDO:0021110 biolink:NamedThing sweat gland adenoma A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. tmpak2llvmy_mondo_relaxed.owl sweat gland adenoma|adenoma of the sweat gland|adenoma of sweat gland|adenoma, sweat gland, benign NCIT:C7560|ICDO:8400/0 owl:Class UBERON:0005988 biolink:NamedThing atrium myocardial trabecula The supporting bundles of muscular fibers lining the walls of the atrial myocardium tmpak2llvmy_mondo_relaxed.owl trabecula of atrium|atrium myocardial trabeculae|atrial trabecula|trabecular layer of the atrium|trabecular layer of atrium owl:Class UBERON:0000440 biolink:NamedThing trabecula A small, often microscopic, tissue element in the form of a small beam, strut or rod, generally having a mechanical function, and usually but not necessarily composed of dense collagenous tissue. On histological section, a trabecula can look like a septum, but in three dimensions they are topologically distinct, with trabeculae being roughly rod or pillar-shaped and septa being sheet-like. Trabeculae are usually composed of dense fibrous tissue, i.e. mainly of collagen, and in most cases provide mechanical strengthening or stiffening to a soft solid organ, such as the spleen. They can be composed of other materials, such as bone or muscle[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005970 biolink:NamedThing brain commissure any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001020 biolink:NamedThing nervous system commissure Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt]. tmpak2llvmy_mondo_relaxed.owl neuraxis commissure|commissure|commissure of neuraxis|white matter commissure owl:Class MONDO:0004309 biolink:NamedThing sarcomatosis The occurrence of several sarcomas in different anatomic locations. tmpak2llvmy_mondo_relaxed.owl sarcomatosis|sarcomatosis (morphologic abnormality)|sarcomatosis NOS (morphologic abnormality) NCIT:C4243|UMLS:C0334451|DOID:7615|ICDO:8800/9 owl:Class MONDO:0001653 biolink:NamedThing prepuce cancer A malignant neoplasm involving the prepuce. tmpak2llvmy_mondo_relaxed.owl prepuce cancer|malignant neoplasm of prepuce|malignant neoplasm of foreskin|cancer of prepuce|malignant tumor of foreskin|malignant prepuce neoplasm ICD10:C60.0|UMLS:C0153598|DOID:13168|ICD9:187.1|SCTID:363450006 owl:Class MONDO:0002149 biolink:NamedThing reproductive system cancer A malignant neoplasm involving the reproductive organ tmpak2llvmy_mondo_relaxed.owl malignant reproductive organ neoplasm|malignant neoplasm of reproductive organ|malignant reproductive system neoplasm|cancer of reproductive organ|reproductive tumor|reproductive system cancer|cancer of reproductive system|malignant neoplasm of reproductive system|reproductive organ cancer DOID:193|NCIT:C36076|UMLS:C1334618 owl:Class HGNC:8889 biolink:NamedThing PGAM2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008836 biolink:NamedThing liver bud tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009854 biolink:NamedThing digestive tract diverticulum Branch or outpocketing of the digestive tract. tmpak2llvmy_mondo_relaxed.owl intestinal pouch|diverticulum of gut owl:Class MONDO:0003799 biolink:NamedThing conjunctivitis Inflammation of the conjunctiva of the eye. tmpak2llvmy_mondo_relaxed.owl conjunctivitis|pink eye|Madras eye|inflammation of conjunctiva|conjunctiva inflammation|conjunctivitis (disease) conjunctivitis (disease) NCIT:C34504|HP:0000509|UMLS:C0009763|ICD10:H10|ICD9:372.39|DOID:6195|ICD9:372.30|MESH:D003231|SCTID:9826008|ICD10:H10.9 owl:Class MONDO:0006170 biolink:NamedThing conjunctival disorder Any disorder of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl disorder of conjunctiva|disease or disorder of conjunctiva|conjunctival disorder|conjunctiva disease or disorder|disease of conjunctiva|conjunctival disease|conjunctiva disease DOID:4251|EFO:1000203|MONDO:0002932|NCIT:C27605 owl:Class MONDO:0006028 biolink:NamedThing cecum adenocarcinoma A carcinoma that arises from glandular epithelial cells of the caecum tmpak2llvmy_mondo_relaxed.owl cecal adenocarcinoma|caecum adenocarcinoma|adenocarcinoma of cecum|adenocarcinoma of the cecum|cecum adenocarcinoma SCTID:413446001|EFO:1000020|DOID:3039|NCIT:C5543|UMLS:C1332866 owl:Class UBERON:0007389 biolink:NamedThing paired limb/fin cartilage A cartilage tissue that is part of a paired limb or fin. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410001 biolink:NamedThing small intestine venule Venule of villus of small intestine. tmpak2llvmy_mondo_relaxed.owl venule of small intestine owl:Class UBERON:0001979 biolink:NamedThing venule One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins tmpak2llvmy_mondo_relaxed.owl venula owl:Class MONDO:0021631 biolink:NamedThing brain astrocytoma A astrocytoma (excluding glioblastoma) that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain astrocytoma (excluding glioblastoma)|brain astrocytoma|astrocytoma (excluding glioblastoma) of brain SCTID:254938000|NCIT:C60780|UMLS:C3695127 owl:Class MONDO:0021632 biolink:NamedThing primary brain neoplasm tmpak2llvmy_mondo_relaxed.owl primary brain neoplasm|primary brain tumor ONCOTREE:PBT|NCIT:C4952 owl:Class MONDO:0009742 biolink:NamedThing neuroectodermal melanolysosomal disease Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. tmpak2llvmy_mondo_relaxed.owl ELEJALDE disease|Elejalde disease|neuroectodermal melanolysosomal disease SCTID:724091002|UMLS:C1860157|ICD10:L81.4|MESH:C536203|OMIM:256710|Orphanet:33445 owl:Class MONDO:0015651 biolink:NamedThing neurocutaneous syndrome with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:166466|UMLS:CN200062 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurocutaneous syndrome' MONDO_0042983 owl:Class MONDO:0010761 biolink:NamedThing retinitis pigmentosa Y-linked Y-linked form of retinitis pigmentosa. tmpak2llvmy_mondo_relaxed.owl Y-linked retinitis pigmentosa|RPY|retinitis pigmentosa, Y-linked ICD10:H35.5|OMIM:400004|DOID:0110418|UMLS:C1839079|MESH:C564035 owl:Class MONDO:0000428 biolink:NamedThing Y-linked disease Y-linked form of disease. tmpak2llvmy_mondo_relaxed.owl disease, Y-linked genetic|genetic diseases, Y linked|Y linked genetic diseases|Y-linked genetic disease|diseases, Y-linked genetic|disease, Y-linked|disease or disorder, Y-linked|genetic disease, Y-linked|genetic diseases, Y chromosome linked|Y-linked genetic diseases|Y-linked disease or disorder|genetic diseases, Y-chromosome linked UMLS:C1563751|MESH:D050174|DOID:0050738 owl:Class MONDO:0005211 biolink:NamedThing ovarian serous adenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. tmpak2llvmy_mondo_relaxed.owl serous adenocarcinoma of ovary|ovarian serous carcinoma|serous adenocarcinoma of the ovary|ovarian serous adenocarcinoma|ovary serous adenocarcinoma|serous ovarian cancer|serous carcinoma of the ovary|serous carcinoma of ovary DOID:5744|DOID:0050933|EFO:0002917|NCIT:C7550|ONCOTREE:SOC MONDO:0003625 owl:Class GO:0099602 biolink:NamedThing neurotransmitter receptor regulator activity A molecular function that directly (via physical interaction or direct modification) activates, inhibits or otherwise modulates the activity of a neurotransmitter receptor. Modulation of activity includes changes in desensitization rate, ligand affinity, ion selectivity and pore-opening/closing. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019265 biolink:NamedThing diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant focal form Orphanet:79298|ICD10:E16.1 owl:Class MONDO:0017186 biolink:NamedThing diazoxide-resistant hyperinsulinism Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. tmpak2llvmy_mondo_relaxed.owl diazoxide-resistant hyperinsulinemic hypoglycemia ICD10:E16.1|Orphanet:276585 owl:Class UBERON:0010335 biolink:NamedThing maxillary process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a maxillary process mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004887 biolink:NamedThing left lung hilus A lung hilus that is part of the left lung. tmpak2llvmy_mondo_relaxed.owl left lung hilum|hilus of left lung|hilum of left lung|left pulmonary hilus|left pulmonary hilum owl:Class UBERON:0004886 biolink:NamedThing lung hilus A depression on the surface of the lung where the bronchus, blood vessels and nerves enter. tmpak2llvmy_mondo_relaxed.owl pulmonary hilus|hilum of lung|hilus of lung|lung hilum|hilum pulmonis|pulmonary hilum owl:Class ECTO:6000016 biolink:NamedThing exposure to personal behavior An exposure event involving Personal Behavior tmpak2llvmy_mondo_relaxed.owl Personal Behavior exposure owl:Class RO:0002310 biolink:NamedThing exposure event or process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0040068 biolink:NamedThing Abnormality of limb bone tmpak2llvmy_mondo_relaxed.owl Abnormality of limb bone UMLS:C4022456 HPO:skoehler human_phenotype owl:Class MONDO:0032678 biolink:NamedThing developmental and epileptic encephalopathy, 71 tmpak2llvmy_mondo_relaxed.owl Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|DEE71|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71|epileptic encephalopathy, early infantile, 71|EIEE71 OMIM:618328 owl:Class MONDO:0002124 biolink:NamedThing secondary lacrimal atrophy tmpak2llvmy_mondo_relaxed.owl secondary atrophy of lacrimal gland|secondary lacrimal atrophy|consecutive atrophy of lacrimal gland DOID:1822|ICD10:H04.15|SCTID:75068001|ICD9:375.14 owl:Class HGNC:11854 biolink:NamedThing TSPAN7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051336 biolink:NamedThing regulation of hydrolase activity Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpak2llvmy_mondo_relaxed.owl hydrolase regulator owl:Class MONDO:0060664 biolink:NamedThing neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities tmpak2llvmy_mondo_relaxed.owl NEDMCR|neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities UMLS:CN889218|OMIM:617913 owl:Class GO:0019221 biolink:NamedThing cytokine-mediated signaling pathway A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl cytokine mediated signalling pathway|cytokine and chemokine mediated signaling pathway owl:Class GO:0007166 biolink:NamedThing cell surface receptor signaling pathway A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl cell surface receptor linked signalling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signaling pathway owl:Class MONDO:0024487 biolink:NamedThing nail infection An infectious process affecting the nail. tmpak2llvmy_mondo_relaxed.owl nail infection UMLS:C0343026|NCIT:C78493 owl:Class MONDO:0015439 biolink:NamedThing ring chromosome 4 Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. tmpak2llvmy_mondo_relaxed.owl chromosome 4 ring|Ring chromosome 4 syndrome|Ring chromosome type 4|rose cluster 4|syndrome r(4)|Ring 4|R4|r(4) syndrome Orphanet:1447|MESH:C537636|GARD:0001339|NCIT:C121983|SCTID:81678004|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 owl:Class MONDO:0017101 biolink:NamedThing isolated focal cortical dysplasia type IIa tmpak2llvmy_mondo_relaxed.owl FCD type IIa ICD10:Q04.8|Orphanet:269001 owl:Class MONDO:0011818 biolink:NamedThing isolated focal cortical dysplasia type II tmpak2llvmy_mondo_relaxed.owl isolated focal cortical dysplasia type 2|CDT|FCD 2B|focal cortical dysplasia type II|FCDT|focal cortical dysplasia, type 2B|focal cortical dysplasia of Taylor|focal cortical dysplasia type 2|cortical dysplasia of Taylor without balloon cells|cortical dysplasia of Taylor|FCD 2A|Fcd2|focal cortical dysplasia of Taylor, type 2B|cortical dysplasia, Taylor type|FCORD2|cortical dysplasia of Taylor with balloon cells|FCD type II|focal cortical dysplasia of Taylor, type 2A|focal cortical dysplasia, type 2A|cortical dysplasia of Taylor, dysplasia only|focal cortical dysplasia, type II|focal cortical dysplasia, type 2 Orphanet:268994|MESH:C537067|OMIM:607341|ICD10:Q04.8|GARD:0010190 https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor owl:Class UBERON:0005565 biolink:NamedThing facio-acoustic neural crest Cranial neural crest that gives rise to the facio-acoustic ganglion. tmpak2llvmy_mondo_relaxed.owl facio acoustic neural crest owl:Class MONDO:0004120 biolink:NamedThing Bartholin gland small cell carcinoma A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl Bartholin's gland small cell carcinoma|major vestibular gland small cell carcinoma|small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma UMLS:C1511051|NCIT:C40298|DOID:7140 owl:Class MONDO:0000261 biolink:NamedThing adenoiditis An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. tmpak2llvmy_mondo_relaxed.owl pharyngeal tonsilitis|pharyngeal tonsil inflammation|chronic adenoiditis|inflammation of pharyngeal tonsil UMLS:C0396023|DOID:0050145|SCTID:70020005|ICD10:J35.02|ICD9:474.01|UMLS:C0001427 owl:Class MONDO:0001039 biolink:NamedThing tonsillitis Inflammation of the tonsillar tissue. tmpak2llvmy_mondo_relaxed.owl inflammation of tonsil|tonsil inflammation|tonsilitis|throat infection - tonsillitis|chronic tonsillitis UMLS:C0040425|SCTID:90979004|MESH:D014069|ICD9:474.00|DOID:10456|NCIT:C116006|ICD10:J35.01|UMLS:C0149517 owl:Class MONDO:0012087 biolink:NamedThing primary ciliary dyskinesia 4 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1. tmpak2llvmy_mondo_relaxed.owl CILD4|ciliary dyskinesia, primary, 4|primary ciliary dyskinesia 4 with or without situs inversus|primary ciliary dyskinesia type 4|ciliary dyskinesia, primary, 4, with or without situs inversus ICD10:Q34.8|OMIM:608646|DOID:0110614|UMLS:C1837616|MESH:C535279 owl:Class MONDO:0016575 biolink:NamedThing primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). tmpak2llvmy_mondo_relaxed.owl PCD|ciliary dyskinesia primary|immotile ciliary syndrome|ICS|kartageners syndrome|Immotile cilia syndrome, Kartagener type|Kartagener's syndrome|Kartagener syndrome|Siewert syndrome|Dextrocardia bronchiectasis and sinusitis|Dextrocardia-bronchiectasis-sinusitis syndrome|Primary ciliary dyskinesia and situs inversus|ciliary motility disorder|Primary ciliary dyskinesia, Kartagener type|bronchiectasis, chronic sinusitis and dextrocardia syndrome DOID:0050144|MESH:D007619|OMIMPS:244400|NCIT:C84797|SCTID:42402006|Orphanet:244|UMLS:C0008780|DOID:9562|MedDRA:10069713|MESH:D002925|ICD10:Q34.8|GARD:0006815|SCTID:86204009|GARD:0004484 Editor note: we deliberately merge two MESHes here owl:Class MONDO:0016312 biolink:NamedThing 5-fluorouracil poisoning 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. tmpak2llvmy_mondo_relaxed.owl 5-fluorouracil intoxication ICD10:T45.1|UMLS:CN201128|Orphanet:217064|MESH:C531667 owl:Class GO:0019439 biolink:NamedThing aromatic compound catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. tmpak2llvmy_mondo_relaxed.owl aromatic compound degradation|aromatic hydrocarbon catabolism|aromatic compound catabolism|aromatic compound breakdown|aromatic hydrocarbon catabolic process owl:Class GO:0044248 biolink:NamedThing cellular catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular degradation|cellular catabolism|cellular breakdown owl:Class HGNC:4236 biolink:NamedThing GFER tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006604 biolink:NamedThing rosacea A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. tmpak2llvmy_mondo_relaxed.owl acne roscea|acne rosacea|acne, erythematosa DOID:8881|ICD9:695.3|SCTID:398909004|UMLS:C0035854|MESH:D012393|EFO:1000760|NCIT:C97136|ICD10:L71.9|Wikipedia:Rosacea|ICD10:L71 owl:Class MONDO:0020482 biolink:NamedThing myotonia permanens Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). tmpak2llvmy_mondo_relaxed.owl SCTID:715789009|ICD10:G71.1|UMLS:CN207354|Orphanet:99735 owl:Class MONDO:0018959 biolink:NamedThing potassium-aggravated myotonia Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. tmpak2llvmy_mondo_relaxed.owl Myotonia Permanens|MYOTONIA, POTASSIUM-AGGRAVATED|Potassium aggravated myotonia|K-aggravated myotonia|K+-aggravated myotonia|Myotonia Congenita, Atypical|Myotonia Fluctuans|Laryngospasm, Severe Neonatal Episodic|Myotonia Congenita, Acetazolamide-Responsive|PAM|Sodium Channel Muscle Disease Orphanet:612|MONDO:0012026|SCTID:702355008|UMLS:C2931826|NCIT:C122788|OMIM:608390|ICD10:G71.1|MESH:C538353|GARD:0004459 owl:Class MONDO:0001955 biolink:NamedThing protozoal dysentery A dysentery that involves protozoan infection. tmpak2llvmy_mondo_relaxed.owl ICD9:007.8|ICD10:B50.B64|DOID:14397|ICD10:A07.8 owl:Class MONDO:0001517 biolink:NamedThing dysentery Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. tmpak2llvmy_mondo_relaxed.owl infectious diarrhea|infectious diarrheal disease|infectious diarrheal diseases|infective diarrhea|diarrheal disease, infectious|dysenteric diarrhea DOID:12384|EFO:1001869|MESH:D004403|UMLS:C0013369|SCTID:111939009|ICD9:009.2|SCTID:19213003 https://github.com/monarch-initiative/mondo/issues/3703 owl:Class GO:1900117 biolink:NamedThing regulation of execution phase of apoptosis Any process that modulates the frequency, rate or extent of execution phase of apoptosis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003064 biolink:NamedThing intermediate mesoderm The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. tmpak2llvmy_mondo_relaxed.owl intermediate mesenchyme|intermediate plate mesoderm|mesenchyma intermedium|IM|intermediate plate owl:Class NBO:0001786 biolink:NamedThing regulation of behavior "Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013238 biolink:NamedThing chromosome 17q23.1-q23.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. tmpak2llvmy_mondo_relaxed.owl Del(17)(q23.1q23.2)|17q23.1-q23.2 microdeletion syndrome|chromosome 17q23.1-q23.2 deletion syndrome|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2|17q23.1q23.2 microdeletion syndrome GARD:0010936|SCTID:719584008|ICD10:Q93.5|UMLS:C4304591|UMLS:C3150607|Orphanet:261279|OMIM:613355|DOID:0060405 owl:Class MONDO:0016915 biolink:NamedThing partial deletion of the long arm of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 17q|partial deletion of chromosome 17q|partial monosomy of the long arm of chromosome 17|partial deletion of the long arm of chromosome type 17 ICD10:Q93.5|Orphanet:262137 owl:Class GO:2000310 biolink:NamedThing regulation of NMDA receptor activity Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity. tmpak2llvmy_mondo_relaxed.owl regulation of N-methyl-D-aspartate selective glutamate receptor activity owl:Class GO:2001257 biolink:NamedThing regulation of cation channel activity Any process that modulates the frequency, rate or extent of cation channel activity. tmpak2llvmy_mondo_relaxed.owl regulation of nonselective cation channel activity|regulation of cation diffusion facilitator activity owl:Class OBO:CARO_0001010 biolink:NamedThing organism or virus or viroid tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000040 biolink:NamedThing material entity An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. tmpak2llvmy_mondo_relaxed.owl MaterialEntity material BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here.|BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60|BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity. A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002]) a human being|a puff of smoke|an aggregate of human beings.|a photon|an energy wave|a hurricane|the undetached arm of a human being|an epidemic|a sea wave|a flame|a forest fire|a tornado (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] |(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] |(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002])|Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002]) owl:Class ENVO:01001085 biolink:NamedThing atmospheric aerosol formation An aerosol formation process which occurs in an atmosphere. tmpak2llvmy_mondo_relaxed.owl atmospheric aerosol formation owl:Class ENVO:02500003 biolink:NamedThing atmospheric process A process which occurs within an atmosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021323 biolink:NamedThing malignant neoplasm of chest wall A cancer that involves the chest wall. tmpak2llvmy_mondo_relaxed.owl cancer of chest wall|malignant tumor of the chest wall|malignant tumor of chest wall|malignant chest wall tumor|malignant chest wall neoplasm|chest wall cancer|malignant neoplasm of the chest wall|malignant neoplasm of chest wall SCTID:712750007|NCIT:C4580|UMLS:C0346948 owl:Class GO:1901716 biolink:NamedThing negative regulation of gamma-aminobutyric acid catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpak2llvmy_mondo_relaxed.owl downregulation of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid catabolism|negative regulation of gamma-aminobutyric acid breakdown|downregulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid degradation|downregulation of gamma-aminobutyric acid catabolism|negative regulation of 4-aminobutanoate catabolic process|negative regulation of gamma-aminobutyric acid catabolism|down regulation of 4-aminobutyrate catabolism|down regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutanoate catabolic process|down-regulation of gamma-aminobutyric acid catabolism|downregulation of 4-aminobutanoate catabolism|down regulation of GABA catabolism|inhibition of GABA catabolic process|negative regulation of 4-aminobutyrate catabolism|down-regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutyrate catabolic process|negative regulation of 4-aminobutyrate catabolic process|down-regulation of 4-aminobutanoate catabolic process|down regulation of gamma-aminobutyric acid breakdown|downregulation of GABA catabolic process|negative regulation of GABA catabolism|downregulation of 4-aminobutyrate catabolism|downregulation of GABA catabolism|down regulation of gamma-aminobutyric acid catabolic process|inhibition of gamma-aminobutyric acid catabolic process|inhibition of gamma-aminobutyric acid breakdown|down-regulation of 4-aminobutanoate catabolism|down regulation of 4-aminobutanoate catabolism|downregulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutanoate catabolic process|inhibition of GABA catabolism|down-regulation of 4-aminobutyrate catabolism|downregulation of gamma-aminobutyric acid degradation|inhibition of 4-aminobutyrate catabolic process|down-regulation of GABA catabolic process|inhibition of 4-aminobutyrate catabolism|negative regulation of gamma-aminobutyric acid degradation|down regulation of GABA catabolic process|down-regulation of 4-aminobutyrate catabolic process|down-regulation of gamma-aminobutyric acid catabolic process|down-regulation of GABA catabolism|inhibition of gamma-aminobutyric acid catabolism|downregulation of gamma-aminobutyric acid breakdown|negative regulation of 4-aminobutanoate catabolism|negative regulation of GABA catabolic process|inhibition of 4-aminobutanoate catabolism|down-regulation of gamma-aminobutyric acid breakdown owl:Class GO:1901715 biolink:NamedThing regulation of gamma-aminobutyric acid catabolic process Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of 4-aminobutyrate catabolic process|regulation of 4-aminobutanoate catabolism|regulation of 4-aminobutanoate catabolic process|regulation of 4-aminobutyrate catabolism|regulation of GABA catabolism|regulation of gamma-aminobutyric acid catabolism|regulation of GABA catabolic process|regulation of gamma-aminobutyric acid breakdown|regulation of gamma-aminobutyric acid degradation owl:Class MONDO:0008196 biolink:NamedThing parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. tmpak2llvmy_mondo_relaxed.owl parastremmatic dwarfism|Parastremmatic dysplasia GARD:0004222|OMIM:168400|ICD10:Q87.1|MESH:C537172|SCTID:722210007|DOID:0111539|Orphanet:2646 https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism owl:Class MONDO:0024284 biolink:NamedThing demodicidosis of sebaceous gland A demodicidosis that involves the sebaceous gland. tmpak2llvmy_mondo_relaxed.owl sebaceous gland demodicidosis owl:Class MONDO:0017280 biolink:NamedThing demodicidosis Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. tmpak2llvmy_mondo_relaxed.owl Demodex infectious disease|Demodicosis|Demodex disease or disorder|Demodex caused disease or disorder ICD10:B88.0|Orphanet:283|GARD:0001802|UMLS:C3854478 https://rarediseases.info.nih.gov/diseases/1802/demodicidosis owl:Class MONDO:0019708 biolink:NamedThing primary bone dysplasia with disorganized development of skeletal components tmpak2llvmy_mondo_relaxed.owl primary skeletal dysplasia with disorganized development of skeletal components|primary osteodysplasia with disorganized development of skeletal components 2022-01-01 Orphanet:93450 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:8000008 biolink:NamedThing Martsolf syndrome 1 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl cataract-intellectual disability-hypogonadism syndrome|Martsolf syndrome|cataract-intellectual disability-hypogonadism|MARTSOLF syndrome|cataract-mental retardation-hypogonadism GARD:0003406|SCTID:722380003|MESH:C536028|ICD10:Q87.8|DOID:0111586|OMIM:212720|UMLS:C0796037|Orphanet:1387 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0001816 biolink:NamedThing cytokine production The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl interleukin secretion|cytokine biosynthetic process|interferon secretion|cytokine metabolic process|interleukin production|interferon production|cytokine secretion owl:Class NCBITaxon:2499411 biolink:NamedThing Articulavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497577 biolink:NamedThing Insthoviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035286 biolink:NamedThing lateral wall of oropharynx tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001593 biolink:NamedThing decreased curvature A curvature which is relatively low. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002303 biolink:NamedThing decreased object quality A quality of an object that has a value that is decreased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019751 biolink:NamedThing polyol metabolic process The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpak2llvmy_mondo_relaxed.owl polyol metabolism|polyhydric alcohol metabolic process owl:Class GO:0006066 biolink:NamedThing alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpak2llvmy_mondo_relaxed.owl alcohol metabolism owl:Class CHEBI:17245 biolink:NamedThing carbon monoxide A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. tmpak2llvmy_mondo_relaxed.owl C#O|carbon monooxide|[CO]|carbon monoxide|CO|CARBON MONOXIDE|Carbon monoxide|carbon(II) oxide owl:Class CHEBI:138675 biolink:NamedThing gas molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). tmpak2llvmy_mondo_relaxed.owl gas molecular entities|gaseous molecular entity|gaseous molecular entities owl:Class MONDO:0000373 biolink:NamedThing gall bladder carcinoma in situ A carcinoma in situ involving a gall bladder. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of gall bladder|gall bladder in situ carcinoma|stage 0 gall bladder carcinoma DOID:0050612 owl:Class MONDO:0003220 biolink:NamedThing gallbladder carcinoma A carcinoma that arises from epithelial cells of the gall bladder tmpak2llvmy_mondo_relaxed.owl gallbladder cancer|Gall bladder carcinoma (adenocarcinoma)|cancer of gallbladder|carcinoma of the gallbladder|gallbladder carcinoma|carcinoma of gall bladder|cancer of the gallbladder|gall bladder carcinoma|carcinoma of gallbladder|carcinoma gallbladder|Gall bladder carcinoma (adeno) EFO:1001956|NCIT:C3844|DOID:4948|SCTID:372140005|UMLS:C0235782 owl:Class MONDO:0021245 biolink:NamedThing oral cavity neoplasm A neoplasm (disease) that involves the oral cavity. tmpak2llvmy_mondo_relaxed.owl oral cavity neoplasm (disease)|mouth tumor|tumor of oral cavity|neoplasm of oral cavity|mouth neoplasm|oral cavity tumor|tumor of mouth EFO:0003868|NCIT:C7606|UMLS:C0026640|SCTID:235075007 owl:Class MONDO:0019543 biolink:NamedThing acquired aneurysmal subarachnoid hemorrhage Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206370|ICD10:I60.9|Orphanet:90065 owl:Class MONDO:0005099 biolink:NamedThing subarachnoid hemorrhage Intracranial hemorrhage into the subarachnoid space. tmpak2llvmy_mondo_relaxed.owl subarachnoid hemorrhage (disease)|subarachnoid hemorrhage subarachnoid hemorrhage (disease) MESH:D013345|UMLS:C0038525|HP:0002138|SCTID:21454007|EFO:0000713|ICD9:430 owl:Class MONDO:0010581 biolink:NamedThing diabetes insipidus, nephrogenic, X-linked tmpak2llvmy_mondo_relaxed.owl Ndi|diabetes insipidus, nephrogenic, type 1|diabetes insipidus, nephrogenic, X-linked UMLS:C1563705|OMIM:304800 owl:Class MONDO:0016383 biolink:NamedThing nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. tmpak2llvmy_mondo_relaxed.owl ADH resistant diabetes insipidus|diabetes insipidus nephrogenic X-linked|diabetes insipidus nephrogenic|diabetes insipidus nephrogenic type 1|vasopressin-resistant diabetes insipidus DOID:12387|MESH:D018500|UMLS:C0162283|NCIT:C84919|ICD9:588.1|ICD10:N25.1|Orphanet:223|GARD:0007178|SCTID:111395007|MedDRA:10029147 owl:Class MONDO:0018460 biolink:NamedThing Eales disease Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. tmpak2llvmy_mondo_relaxed.owl idiopathic retinal vasculitis|idiopathic obliterative vasculopathy|idiopathic recurrent vitreal hemorrhage|idiopathic retinal perivasculitis Orphanet:40923|MedDRA:10057429|GARD:0006309|MESH:C538011|ICD10:H35.0|UMLS:C0271073|SCTID:54122009 https://rarediseases.info.nih.gov/diseases/6309/eales-disease owl:Class CL:0000348 biolink:NamedThing choroidal cell of the eye A cell of the choroid of the eye. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000293 biolink:NamedThing structural cell A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0003304 biolink:NamedThing mesoderm blood island A blood island that is part of a mesoderm. tmpak2llvmy_mondo_relaxed.owl mesenchyme blood island|mesoderm blood islands owl:Class UBERON:0012275 biolink:NamedThing meso-epithelium Epithelium that derives from the mesoderm. [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesoepithelium|mesoderm-derived epithelium owl:Class MONDO:0004032 biolink:NamedThing ovarian seromucinous carcinoma A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. tmpak2llvmy_mondo_relaxed.owl ovarian Seromucinous carcinoma|ovarian mixed epithelial carcinoma|malignant ovarian mixed epithelial tumor|mixed epithelial carcinoma of ovary|mixed epithelial carcinoma of the ovary|malignant ovarian mixed epithelial neoplasm ONCOTREE:OSMCA|DOID:6899|NCIT:C40090|EFO:1000358|UMLS:C1518232 owl:Class MONDO:0003811 biolink:NamedThing ovarian seromucinous tumor A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. tmpak2llvmy_mondo_relaxed.owl ovarian Seromucinous tumor|mixed epithelial tumor of ovary|mixed epithelial neoplasm of the ovary|ovarian mixed epithelial neoplasm|ovarian mixed epithelial tumor|mixed epithelial tumor of the ovary|mixed epithelial neoplasm of ovary DOID:6211|UMLS:C0346166|SCTID:254855000|NCIT:C4508|EFO:1000425 owl:Class CL:0002183 biolink:NamedThing stem cell of gastric gland A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit. tmpak2llvmy_mondo_relaxed.owl FMA:62953 tmeehan 2010-08-25T03:57:08Z CL:1000400 cell owl:Class CL:0000048 biolink:NamedThing multi fate stem cell A stem cell that can give rise to multiple lineages of cells. tmpak2llvmy_mondo_relaxed.owl multifate stem cell|multi-fate stem cell|multipotent cell|multipotent stem cell FMA:84789 cell owl:Class MONDO:0013049 biolink:NamedThing DPM3-CDG DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl CDG Io|DPM3-CDG|DG1O|CDGIo|CDG1O|CDG syndrome type Io|congenital disorder of glycosylation, type Io|DPM3-CDG (CDG-Io)|CDG-Io|congenital disorder of glycosylation type 1o|congenital disorder of glycosylation type Io|Cdg1(Dpm3)|carbohydrate deficient glycoprotein syndrome type Io SCTID:725044000|GARD:0012395|OMIM:612937|ICD10:E77.8|Orphanet:263494|UMLS:C2752007|MESH:C567857 owl:Class MONDO:0004249 biolink:NamedThing pediatric supratentorial ependymoma An ependymoma that arises from the supratentorial region of the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood supratentorial ependymoma|pediatric supratentorial ependymoblastoma|supratentorial ependymoma|pediatric cerebral ependymoma UMLS:C0278650|EFO:0008495|DOID:7502|NCIT:C9043 owl:Class GO:0042482 biolink:NamedThing positive regulation of odontogenesis Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. tmpak2llvmy_mondo_relaxed.owl up regulation of odontogenesis|up-regulation of odontogenesis|stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|positive regulation of tooth development|activation of odontogenesis owl:Class GO:0042481 biolink:NamedThing regulation of odontogenesis Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. tmpak2llvmy_mondo_relaxed.owl regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development owl:Class CL:1001573 biolink:NamedThing nasopharyngeal epithelial cell Cell of the nasopharyngeal epithelium. tmpak2llvmy_mondo_relaxed.owl nasopharynx respiratory epithelial cells CALOHA:TS-2398 owl:Class CL:0002631 biolink:NamedThing epithelial cell of upper respiratory tract tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-06-21T12:28:55Z cell owl:Class MONDO:0002876 biolink:NamedThing cervical adenosarcoma A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. tmpak2llvmy_mondo_relaxed.owl cervical Muellerian adenosarcoma|uterine cervix adenosarcoma|cervical Müllerian adenosarcoma|adenosarcoma of the cervix uteri|cervical adenosarcoma|adenosarcoma of uterine cervix|cervical Mullerian adenosarcoma Orphanet:213792|ICD10:C53.1|SCTID:764847000|ICD10:C53.0|UMLS:CN201069|UMLS:C1516426|ICD10:C53.8|DOID:4111|NCIT:C40229 owl:Class MONDO:0016277 biolink:NamedThing malignant mixed epithelial and mesenchymal tumor of cervix uteri tmpak2llvmy_mondo_relaxed.owl cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri Orphanet:213782|ICD10:C53.1|UMLS:CN201067|ICD10:C53.0|ICD10:C53.8 owl:Class GO:1904782 biolink:NamedThing negative regulation of NMDA glutamate receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity. tmpak2llvmy_mondo_relaxed.owl inhibition of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of NMDA glutamate receptor activity|downregulation of NMDA receptor|negative regulation of NMDA receptor|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA glutamate receptor activity|down-regulation of NMDA receptor|down regulation of NMDA receptor|down-regulation of NMDA glutamate receptor activity|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down regulation of NMDA glutamate receptor activity owl:Class UBERON:0003461 biolink:NamedThing shoulder bone A bone that is connected via a shoulder joint (i.e. glenohumeral or acromioclavicular joints). The shoulder bones are the clavicle, scapula and humerus - but note that these are only considered to be shoulder bones when a true shoulder is present, as in most tetrapods. tmpak2llvmy_mondo_relaxed.owl shoulder-articulating bone|bone of shoulder owl:Class UBERON:0010741 biolink:NamedThing bone of pectoral complex A bone that is part of a pectoral complex. Examples: scapula, manus phalanx, any carpal bone, any bone of the pectoral fin. tmpak2llvmy_mondo_relaxed.owl bone of forelimb or pectoral fin or pectoral girdle|forelimb bone|wing bone owl:Class GO:0070132 biolink:NamedThing regulation of mitochondrial translational initiation Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrial translation initiation owl:Class UBERON:0035597 biolink:NamedThing profundal placode An embryonic structure positioned halfway between the prospective eye and ear, adjacent to the future midbrain-hindbrain boundary. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24. tmpak2llvmy_mondo_relaxed.owl ophthalmic placode|ophthalmic lobe of trigeminal placode complex|profundus placode|ophthalmic lobe of trigeminal placode owl:Class UBERON:0009955 biolink:NamedThing neurogenic placode Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. tmpak2llvmy_mondo_relaxed.owl placodae neurogenicae|neurogenic placodes owl:Class MONDO:0041775 biolink:NamedThing intraoperative floppy iris syndrome tmpak2llvmy_mondo_relaxed.owl intraoperative floppy iris syndrome UMLS:C1688637|SCTID:418801006 owl:Class MONDO:0002289 biolink:NamedThing iris disease A disease involving the iris. tmpak2llvmy_mondo_relaxed.owl disorder of iris|iris disease or disorder|disease or disorder of iris|iris disorder|disease of iris|iris disease DOID:240|MESH:D007499|UMLS:C0022078|SCTID:85478004|NCIT:C34737 owl:Class UBERON:0004650 biolink:NamedThing tongue keratinized epithelium A keratinized stratified squamous epithelium that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl keratinized epithelium of tongue owl:Class UBERON:0012329 biolink:NamedThing keratinized stratified squamous epithelium Keratinized stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesize and accumulate keratin. tmpak2llvmy_mondo_relaxed.owl epithelium stratificatum squamosum cornificatum owl:Class GO:0045701 biolink:NamedThing negative regulation of spermatid nuclear differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation. tmpak2llvmy_mondo_relaxed.owl down regulation of spermatid nuclear differentiation|inhibition of spermatid nuclear differentiation|down-regulation of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation owl:Class GO:2000242 biolink:NamedThing negative regulation of reproductive process Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012482 biolink:NamedThing West Nile virus, susceptibility to tmpak2llvmy_mondo_relaxed.owl WNV, susceptibility to|West Nile virus, susceptibility to OMIM:610379 owl:Class HGNC:14202 biolink:NamedThing JPH2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9967 biolink:NamedThing RET tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002050 biolink:NamedThing depressive disorder A melancholy feeling of sadness and despair. tmpak2llvmy_mondo_relaxed.owl depression|syndrome, depressive|melancholia|melancholias|syndromes, depressive|mental depression MFOMD:0000013|UMLS:CN236658|MESH:D003866|ICD10:F32|DOID:1596|ICD9:311|ICD10:F33.9|SCTID:35489007|ICD10:F32.9|NCIT:C2982 owl:Class MONDO:0017055 biolink:NamedThing mycophenolate mofetil embryopathy Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. tmpak2llvmy_mondo_relaxed.owl MMF embryopathy UMLS:C4509879|ICD10:Q86.8|SCTID:723406000|Orphanet:268249 owl:Class MONDO:0024880 biolink:NamedThing metastatic malignant neoplasm A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. tmpak2llvmy_mondo_relaxed.owl malignant metastatic neoplasm|metastatic neoplasm, malignant|metastatic cancer|metastatic malignant neoplasm NCIT:C36263 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0024881 biolink:NamedThing secondary malignant neoplasm A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpak2llvmy_mondo_relaxed.owl secondary cancer|secondary malignant neoplasm|secondary malignancy SCTID:128462008|ICD9:198.89|NCIT:C4968|ICD9:199.1 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class UBERON:0003848 biolink:NamedThing gonadal vein In medicine, gonadal vein refers to the blood vessel that carrying blood away from the gonad (testis, ovary) toward the heart. Females : ovarian vein Males : testicular vein [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl gonad vein|gonada vein|vein of gonada|vein of gonad owl:Class MONDO:0010799 biolink:NamedThing aminoglycoside-induced deafness tmpak2llvmy_mondo_relaxed.owl mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|streptomycin ototoxicity|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|deafness, streptomycin-induced|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|deafness, aminoglycoside-induced OMIM:580000|MESH:C564013|DOID:0111734|Orphanet:168609|UMLS:C1838854 owl:Class UBERON:0002370 biolink:NamedThing thymus Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. tmpak2llvmy_mondo_relaxed.owl thymus organ|thymus gland owl:Class UBERON:0005366 biolink:NamedThing olfactory lobe The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016526 biolink:NamedThing lobe of cerebral hemisphere Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl segment of cerebral cortex|regional organ part of cerebral cortex|lobi cerebri|lobes of the brain|lobe of cerebral cortex|cerebral hemisphere lobe|lobe parts of cerebral cortex|cerebral lobe|cerebral cortical segment owl:Class GO:0006417 biolink:NamedThing regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpak2llvmy_mondo_relaxed.owl regulation of protein anabolism|regulation of protein biosynthesis|regulation of protein formation|regulation of protein synthesis owl:Class MONDO:0021064 biolink:NamedThing jugulotympanic paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. tmpak2llvmy_mondo_relaxed.owl parasympathetic paraganglioma of basicranium|Glomus tumor|basicranium parasympathetic paraganglioma|glomus jugulare tumor|tumor of glomus jugulare|neoplasm of the glomus jugulare|glomus jugulare neoplasm|jugular paraganglioma|Paraganglioma - glomus jugulare|tumor of the glomus jugulare|jugulotympanic paraganglioma|neoplasm of glomus jugulare SCTID:127030001|UMLS:C0017671|ICDO:8690/1|ICD9:239.7|GARD:0010599|NCIT:C3061 owl:Class MONDO:0024499 biolink:NamedThing vascular bone neoplasm A benign, intermediate, or malignant vascular neoplasm that arises from the bone. tmpak2llvmy_mondo_relaxed.owl osseous vascular tumor|bone vascular neoplasm|vascular tumor of the bone|vascular neoplasm of the bone|vascular neoplasm of bone|osseous vascular neoplasm|vascular bone neoplasm|bone vascular tumor|vascular tumor of bone NCIT:C6478|UMLS:C1336946 owl:Class MONDO:0005866 biolink:NamedThing mycobacterium avium complex disease An infection that is caused by Mycobacterium avium. tmpak2llvmy_mondo_relaxed.owl DMAC|infection due to Mycobacterium intracellulare|Mycobacterium avium Complex|Mycobacterium avium infection|MAC disease|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium complex infectious disease|Mycobacterium avium complex disease or disorder|disseminated infection with mycobacterium avium complex EFO:0007386|ICD9:031.8|MESH:D015270|UMLS:C0026916|SCTID:373436002|GARD:0009236|NCIT:C36197|DOID:2755 https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex owl:Class MONDO:0000314 biolink:NamedThing primary bacterial infectious disease tmpak2llvmy_mondo_relaxed.owl DOID:0050338 owl:Class GO:0010827 biolink:NamedThing regulation of glucose transmembrane transport Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl regulation of glucose transport owl:Class MONDO:0004753 biolink:NamedThing mechanical strabismus tmpak2llvmy_mondo_relaxed.owl ICD10:H50.6|SCTID:5371001|DOID:9306|UMLS:C0152223|ICD9:378.6|ICD9:378.60|ICD10:H50.60 May be ceded to HPO owl:Class MONDO:0013380 biolink:NamedThing LEOPARD syndrome 3 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. tmpak2llvmy_mondo_relaxed.owl LPRD3|leopard syndrome 3|Noonan syndrome with multiple lentigines caused by mutation in BRAF|BRAF Noonan syndrome with multiple lentigines|Leopard syndrome type 3|LEOPARD syndrome 3 UMLS:C3150971|OMIM:613707|DOID:0080550 owl:Class UBERON:0004409 biolink:NamedThing distal epiphysis of phalanx of manus A distal epiphysis that is part of a phalanx of manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ungual tuberosity of distal phalanx of finger|head of phalanx of hand|distal epiphysis of phalanx of hand|distal end of phalanx of hand|distal epiphysis of phalanx of finger|head of phalanx of finger owl:Class MONDO:0006217 biolink:NamedThing gallbladder adenosquamous carcinoma A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpak2llvmy_mondo_relaxed.owl gallbladder adenosquamous carcinoma|adenosquamous gallbladder carcinoma|gall bladder adenosquamous carcinoma|adenosquamous carcinoma of gallbladder|GBASC|gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder NCIT:C7356|EFO:1000264|UMLS:C1333741|DOID:5627|ONCOTREE:GBASC owl:Class MONDO:0006074 biolink:NamedThing adenosquamous carcinoma A carcinoma composed of malignant glandular cells and malignant squamous cells. tmpak2llvmy_mondo_relaxed.owl adenosquamous carcinoma (morphologic abnormality)|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and squamous carcinoma|adenosquamous carcinoma|carcinoma, adenosquamous, malignant|adenosquamous cell carcinoma|mixed adenocarcinoma and squamous cell carcinoma|mixed adenocarcinoma and epidermoid carcinoma DOID:4830|NCIT:C3727|EFO:1000073|SCTID:403902008|MESH:D018196|UMLS:C0206623|ICDO:8560/3 owl:Class HGNC:18324 biolink:NamedThing HSD3B7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008583 biolink:NamedThing inherited torticollis A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. tmpak2llvmy_mondo_relaxed.owl inherited torticollis (disease)|congenital wry neck|contracture of sternocleidomastoid muscle|torticollis|congenital sternomastoid torticollis|torticollis, familial|congenital wryneck|torticollis, congenital|fibromatosis colli|congenital muscular torticollis|familial torticollis|familial spasmodic torticollis|congenital torticollis inherited torticollis (disease) GARD:0004908|ICD9:723.5|SCTID:70070008|OMIM:189600|MESH:C535425|SCTID:268240006|NCIT:C4811|HP:0000473 https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis owl:Class MONDO:0005031 biolink:NamedThing fibromatosis A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. tmpak2llvmy_mondo_relaxed.owl fibromatosis EFO:0000497|SCTID:723976005|GARD:0006439|NCIT:C3042 owl:Class MONDO:0007459 biolink:NamedThing dilution, pigmentary tmpak2llvmy_mondo_relaxed.owl hypomelanotic disorder|dilution, pigmentary|Albinoidism, oculocutaneous, autosomal dominant|albinism, partial|hypopigmentation SCTID:23006000|UMLS:C1876214|OMIM:126070|GARD:0006731 owl:Class CL:0000239 biolink:NamedThing brush border epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000067 biolink:NamedThing ciliated epithelial cell An epithelial cell that has a cilia. tmpak2llvmy_mondo_relaxed.owl FMA:70605 cell owl:Class CL:0000402 biolink:NamedThing CNS interneuron tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000117 biolink:NamedThing CNS neuron (sensu Vertebrata) tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0004082 biolink:NamedThing childhood immature teratoma of ovary An immature teratoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl immature ovarian teratoma of childhood|pediatric ovarian immature teratoma|pediatric immature teratoma of the ovary|childhood immature ovarian teratoma|childhood immature teratoma of the ovary|pediatric immature teratoma of ovary|childhood ovarian immature teratoma|pediatric immature ovarian teratoma UMLS:C1332990|NCIT:C6547|DOID:7037 owl:Class MONDO:0020577 biolink:NamedThing childhood gonadal germ cell tumor A germ cell tumor that arises from the testis or ovary and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric gonadal germ cell tumor|gonadal germ cell tumor of childhood|childhood gonadal germ cell tumor NCIT:C114801|UMLS:C3899657 owl:Class MONDO:0008802 biolink:NamedThing antithrombin, familial hemorrhagic diathesis due to tmpak2llvmy_mondo_relaxed.owl antithrombin, familial hemorrhagic diathesis due to UMLS:C1859761|MESH:C565947|OMIM:207300 owl:Class MONDO:0010773 biolink:NamedThing myopathy and diabetes mellitus tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy with diabetes|mitochondrial myopathy, lipid type OMIM:500002|UMLS:C1839028|GARD:0003881|ICD10:G71.3|Orphanet:2596|MESH:C564026 owl:Class MONDO:0014142 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. tmpak2llvmy_mondo_relaxed.owl LGMD2T|muscular dystrophy, limb-girdle, type 2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|muscular dystrophy limb-girdle type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|MDDGC14|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|LGMD-GMPPB related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|GMPPB autosomal recessive limb-girdle muscular dystrophy ICD10:G71.2|ICD10:G71.0|GARD:0012544|OMIM:615352|Orphanet:363623|UMLS:C3714932|DOID:0110294 owl:Class MONDO:0015152 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy Autosomal recessive form of limb-girdle muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, autosomal recessive|limb-girdle muscular dystrophy, autosomal recessive|autosomal recessive limb-girdle muscular dystrophy Orphanet:102015|MESH:C538640|DOID:0110274|UMLS:C2931907|ICD10:G71.0|OMIMPS:253600 owl:Class PATO:0001925 biolink:NamedThing surface feature shape A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000052 biolink:NamedThing shape A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). tmpak2llvmy_mondo_relaxed.owl relational shape quality owl:Class MONDO:0007839 biolink:NamedThing Aase-Smith syndrome Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. tmpak2llvmy_mondo_relaxed.owl Aase-Smith I syndrome|Aase-Smith syndrome|Aase-Smith syndrome type 1|Joint contractures with Other abnormalities|hydrocephalus-cleft palate-joint contractures syndrome|Aase-Smith syndrome I|Aase-Smith syndrome 1 OMIM:147800|ICD10:Q87.8|UMLS:C0220686|MESH:C535332|Orphanet:916|GARD:0005642|SCTID:718576001|MedDRA:10063429 owl:Class CHEBI:35471 biolink:NamedThing psychotropic drug A loosely defined grouping of drugs that have effects on psychological function. tmpak2llvmy_mondo_relaxed.owl psychotropic drugs|psychoactive drugs|psychopharmaceuticals|psychoactive agent owl:Class CHEBI:35470 biolink:NamedThing central nervous system drug A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system agents|CNS drugs|CNS agent owl:Class MONDO:0003454 biolink:NamedThing conjunctival cancer A malignant neoplasm involving the conjunctiva. tmpak2llvmy_mondo_relaxed.owl malignant conjunctival neoplasm|conjunctival tumor|malignant neoplasm of the conjunctiva|malignant neoplasm of conjunctiva|malignant tumor of the conjunctiva|cancer of conjunctiva|malignant neoplasm of conjunctiva (primary)|malignant tumor of conjunctiva|conjunctiva cancer|malignant conjunctiva neoplasm|malignant conjunctiva tumor|malignant conjunctival tumor SCTID:363463000|ICD9:190.3|DOID:5467|NCIT:C3564|ICD10:C69.0 owl:Class MONDO:0002236 biolink:NamedThing ocular cancer A benign or malignant neoplasm affecting the structures of the eye. tmpak2llvmy_mondo_relaxed.owl malignant ocular tumor|cancer of eye|eye neoplasm, malignant|malignant tumor of eye|malignant eye tumor|ocular tumor|malignant ocular neoplasm|malignant neoplasm of eyeball of camera-type eye|neoplasm of eye|eye neoplasm|malignant neoplasm of the eye|malignant eyeball of camera-type eye neoplasm|neoplasm of eye proper|eyeball of camera-type eye cancer|eye cancer|malignant tumor of the eye|cancer of the eye|malignant neoplasm of eye|cancer of eyeball of camera-type eye|malignant eye neoplasm ICD9:239.89|DOID:2174|SCTID:371486001|NCIT:C4767|MESH:D005134|ICD9:190.8 Editor note: check to see whether structure is eye or eye + adnexa owl:Class CL:0011022 biolink:NamedThing fibroblast of skin of back A fibroblast that is part of skin of back. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29105 biolink:NamedThing PLEKHG5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098656 biolink:NamedThing anion transmembrane transport The process in which an anion is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl ATP hydrolysis coupled anion transmembrane transport owl:Class MONDO:0017209 biolink:NamedThing infectious posterior uveitis tmpak2llvmy_mondo_relaxed.owl ICD10:H20.0|Orphanet:279919 owl:Class NCBITaxon:810 biolink:NamedThing Chlamydia tmpak2llvmy_mondo_relaxed.owl Miyagawanella|Bedsonia|Rickettsiaformis|Rakeia|"Prowazekia" Coles 1953|Chlamydophila PMID:9103637|PMID:11211265|PMID:21048222|PMID:25618261|PMID:21048221|PMID:23620152|PMID:9103632|GC_ID:11|PMID:10319462 NCBITaxon:83553 ncbi_taxonomy owl:Class NCBITaxon:1113537 biolink:NamedThing Chlamydia/Chlamydophila group tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:10319462|PMID:11211265|PMID:21048222|PMID:21048221|PMID:23620152 ncbi_taxonomy owl:Class MONDO:0018609 biolink:NamedThing syndromic hereditary optic neuropathy A hereditary optic neuropathy that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy Orphanet:441434|UMLS:CN237645 owl:Class MONDO:0000225 biolink:NamedThing human monocytic ehrlichiosis A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. tmpak2llvmy_mondo_relaxed.owl Human ehrlichial infection, human monocytic type|human ehrlichiosis due to Ehrlichia chaffeensis|human ehrlichiosis caused by Ehrlichia chaffeensis|ehrlichiosis chafeensis|HME DOID:0050026|ICD9:082.41|GARD:0000072|SCTID:359747000|UMLS:C1282983 https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis owl:Class HGNC:19218 biolink:NamedThing PLCZ1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000454 biolink:NamedThing epinephrine secreting cell A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types. tmpak2llvmy_mondo_relaxed.owl adrenaline secreting cell|epinephrin secreting cell cell owl:Class MONDO:0009571 biolink:NamedThing Meckel syndrome, type 1 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpak2llvmy_mondo_relaxed.owl Dysencephalia splachnocystica|Meckel syndrome, type 1|Meckel syndrome caused by mutation in MKS1|Gruber syndrome|MKS|Mes|Meckel syndrome type1|Dysencephalia Splanchnocystica|Meckel syndrome|Meckel-Gruber syndrome|Meckel-Gruber syndrome, type 1|Meckel syndrome 1|MKS1|Meckel Gruber syndrome|MKS1 Meckel syndrome OMIM:249000|UMLS:C3714506|DOID:0070115|ICD10:Q61.9|MESH:C536133 owl:Class MONDO:0006105 biolink:NamedThing benign conjunctival neoplasm Abnormal growth of the cells of the conjunctiva without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl benign tumor of the conjunctiva|benign conjunctiva neoplasm|benign conjunctiva tumor|benign conjunctival tumor|benign neoplasm of conjunctiva|benign neoplasm of the conjunctiva|benign tumor of conjunctiva|benign conjunctival neoplasm|conjunctiva benign neoplasm UMLS:C0154025|NCIT:C3622|SCTID:92068002|EFO:1000110 owl:Class MONDO:0002039 biolink:NamedThing cognitive disorder A disease affects cognitive processes. tmpak2llvmy_mondo_relaxed.owl organic mental disorder|cognitive disorder|cognitive disease EFO:1001457|MESH:D019965|NCIT:C92196|ICD10:F09|DOID:1561|SCTID:443265004|ICD9:294.9 owl:Class MONDO:0003765 biolink:NamedThing adult leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. tmpak2llvmy_mondo_relaxed.owl melanoma of adult leptomeninges|adult meningeal melanoma|adult leptomeningeal melanoma|melanoma of the adult leptomeninges UMLS:C1332204|DOID:6090|NCIT:C5319 owl:Class MONDO:0011720 biolink:NamedThing spermatogenic failure 3 Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene. tmpak2llvmy_mondo_relaxed.owl SPGF3|SLC26A8 azoospermia|spermatogenic failure 3|azoospermia caused by mutation in SLC26A8|spermatogenic failure type 3 UMLS:C1847540|MESH:C564665|OMIM:606766|DOID:0070168 owl:Class MONDO:0012273 biolink:NamedThing autosomal recessive nonsyndromic deafness 48 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene. tmpak2llvmy_mondo_relaxed.owl DFNB48|autosomal recessive nonsyndromic deafness type 48|deafness, autosomal recessive type 48|CIB2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 48|deafness, autosomal recessive 48|autosomal recessive deafness 48|autosomal recessive nonsyndromic deafness caused by mutation in CIB2 MESH:C563720|ICD10:H90.3|OMIM:609439|DOID:0110505|UMLS:C1836199 owl:Class GO:0051176 biolink:NamedThing positive regulation of sulfur metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpak2llvmy_mondo_relaxed.owl activation of sulfur metabolic process|up regulation of sulfur metabolic process|positive regulation of sulphur metabolic process|positive regulation of sulphur metabolism|up-regulation of sulfur metabolic process|stimulation of sulfur metabolic process|upregulation of sulfur metabolic process|positive regulation of sulfur metabolism owl:Class GO:0042762 biolink:NamedThing regulation of sulfur metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. tmpak2llvmy_mondo_relaxed.owl regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process owl:Class MONDO:0033006 biolink:NamedThing Galloway-Mowat syndrome 2, X-linked tmpak2llvmy_mondo_relaxed.owl Galloway-Mowat syndrome 2|GAMOS2|Galloway-Mowat syndrome 2, X-linked DOID:0080244|UMLS:CN570502|OMIM:301006 owl:Class MONDO:0009627 biolink:NamedThing Galloway-Mowat syndrome Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. tmpak2llvmy_mondo_relaxed.owl microcephaly-hiatus hernia-nephrotic syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|nephrosis-neuronal dysmigration syndrome|nephrosis-microcephaly syndrome|Galloway Mowat syndrome|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia and nephrotic syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|nephrosis neuronal dysmigration syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|microcephaly nephrosis syndrome|GAMOS|hiatal hernia-microcephaly-nephrosis, Galloway type|Galloway-Mowat syndrome|Galloway syndrome GARD:0000065|ICD10:Q04.3|GARD:65|MESH:C537548|SCTID:721297008|NCIT:C132195|UMLS:C0795949|Orphanet:2065|OMIMPS:251300|DOID:0080694 owl:Class MONDO:0008558 biolink:NamedThing autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. tmpak2llvmy_mondo_relaxed.owl Ideopath thrombocytopenic pur|idiopathic thrombocytopenic purpura|thrombocytopenic purpura autoimmune|idiopathic thrombocytopenia|immune thrombocytopenia|idiopathic thrombocytopenia purpura|idiopathic purpura|immune thrombocytopenic purpura|thrombocytopenic purpura, autoimmune|werlhof's disease|ITP|autoimmune thrombocytopenic purpura|AITP|primary thrombocytopenic purpura ICD9:287.31|DOID:8924|MedDRA:10021245|EFO:0007160|ICD10:D69.3|NCIT:C3446|Orphanet:3002|GARD:0005194|OMIM:188030 owl:Class MONDO:0100241 biolink:NamedThing inherited thrombocytopenia An instance of thrombocytopenia that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary thrombocytopenia OMIMPS:313900 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0006505 biolink:NamedThing GPI anchor metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. tmpak2llvmy_mondo_relaxed.owl glycosylphosphatidylinositol metabolism|GPI anchor metabolism|GPI/GSI anchor metabolic process|glycosylphosphatidylinositol metabolic process|GPI/GSI anchor metabolism owl:Class GO:0006664 biolink:NamedThing glycolipid metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. tmpak2llvmy_mondo_relaxed.owl glycolipid metabolism owl:Class MONDO:0009822 biolink:NamedThing otoonychoperoneal syndrome tmpak2llvmy_mondo_relaxed.owl otoonychoperoneal syndrome|oto-onycho-peroneal syndrome ICD10:Q87.5|UMLS:C1850105|SCTID:441944007|ICD9:759.89|OMIM:259780|MESH:C564912|Orphanet:2793|GARD:0004170 https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome owl:Class MONDO:0001416 biolink:NamedThing female reproductive organ cancer A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of female reproductive organ|malignant neoplasm of the female reproductive system|malignant female reproductive system neoplasm|malignant gynecologic tumor|malignant female reproductive organ neoplasm|gynecologic cancer|malignant tumor of female reproductive system|cancer of female reproductive organ|female reproductive cancer|malignant gynecologic neoplasm|malignant neoplasm of female reproductive system|malignant neoplasm of female genital organ|malignant female reproductive system tumor|malignant tumor of the female reproductive system|female reproductive organ cancer ICD10:C51.C58|SCTID:126907002|ICD10:C57|ICD9:184|NCIT:C4913|DOID:120 owl:Class MONDO:0032627 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 23 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23|MC1DN23 OMIM:618244 owl:Class HP:0001339 biolink:NamedThing Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. tmpak2llvmy_mondo_relaxed.owl Fewer or absent grooves in brain UMLS:C0266463|SNOMEDCT_US:204036008|MSH:D054082|UMLS:C1879312 Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. HP:0002537 human_phenotype owl:Class HP:0002536 biolink:NamedThing Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. tmpak2llvmy_mondo_relaxed.owl Abnormal gyration|Cerebral gyral anomalies UMLS:C1856019 HP:0006900 human_phenotype owl:Class HGNC:779 biolink:NamedThing ATCAY tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008411 biolink:NamedThing ulnar-mammary syndrome Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. tmpak2llvmy_mondo_relaxed.owl ulnar-mammary syndrome of Pallister|ums|ulnar-mammary syndrome|Schinzel syndrome|Pallister ulnar-mammary syndrome DOID:0060614|ICD9:759.89|GARD:0000118|MESH:C536937|Orphanet:3138|ICD10:Q71.8|UMLS:C1866994|OMIM:181450|SCTID:700211007 https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome owl:Class UBERON:0012337 biolink:NamedThing cauda equina The cauda equina is a structure within the lower end of the spinal column of most vertebrates, that consists of nerve roots and rootlets from above. The space in which the cerebrospinal fluid is present is actually an extension of the subarachnoid space. tmpak2llvmy_mondo_relaxed.owl filum terminale owl:Class UBERON:0005162 biolink:NamedThing multi cell part structure A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. tmpak2llvmy_mondo_relaxed.owl multi-cell-component structure|cell part cluster|multi-cell-part structure owl:Class MONDO:0013483 biolink:NamedThing obesity, hyperphagia, and developmental delay tmpak2llvmy_mondo_relaxed.owl obesity, hyperphagia, and developmental delay|OBHD UMLS:C3151303|MESH:C563938|OMIM:613886 owl:Class MONDO:0005375 biolink:NamedThing nasopharyngeal neoplasm A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. tmpak2llvmy_mondo_relaxed.owl nasopharynx neoplasm (disease)|nasopharyngeal neoplasms|tumor of nasopharynx|nasopharynx tumor|nasopharynx neoplasm|neoplasm of nasopharynx|tumor of the nasopharynx|nasopharyngeal tumor|neoplasm of the nasopharynx NCIT:C3257|EFO:0004252|MESH:D009303|UMLS:C0027439|SCTID:126680004 MONDO:0021362 owl:Class MONDO:0019037 biolink:NamedThing progressive supranuclear palsy Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. tmpak2llvmy_mondo_relaxed.owl supranuclear palsy, progressive|Steele-Richardson-Olszewski syndrome|PSP syndrome|progressive supranuclear ophthalmoplegia|familial progressive supranuclear palsy (type) MESH:D013494|Orphanet:683|UMLS:C0038868|ICD10:G23.1|DOID:678|SCTID:28978003|NCIT:C85028|MedDRA:10036813|UMLS:CN205522|ICD9:333.0|GARD:0007471 owl:Class MONDO:0000653 biolink:NamedThing integumentary system cancer A malignant neoplasm involving the integumental system tmpak2llvmy_mondo_relaxed.owl integumental system cancer|cancer of integumental system|malignant neoplasm of integumental system|malignant integumental system neoplasm DOID:0060122 owl:Class MONDO:0008265 biolink:NamedThing polycystic liver disease 1 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. tmpak2llvmy_mondo_relaxed.owl ADPCLD|PCLD1|nonsyndromic polycystic liver disease (disease)|polycystic liver disease 1|autosomal dominant polycystic liver disease|isolated autosomal dominant polycystic liver disease|isolated polycystic liver disease|isolated congenital polycystic liver disease|PCLD|polycystic liver disease 1 with or without kidney cysts|polycystic liver disease|nonsyndromic congenital polycystic liver disease SCTID:716196007|MedDRA:10048834|OMIM:174050|UMLS:C4255088|MedDRA:10010427|ICD10:Q44.6 owl:Class MONDO:0015509 biolink:NamedThing genetic biliary tract disease Genetic biliary tract disease. tmpak2llvmy_mondo_relaxed.owl genetic biliary tract disease UMLS:CN199642|Orphanet:156607 owl:Class CL:0000034 biolink:NamedThing stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpak2llvmy_mondo_relaxed.owl FMA:63368|CALOHA:TS-2086 cell owl:Class HP:0002249 biolink:NamedThing Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. tmpak2llvmy_mondo_relaxed.owl Black faeces|Black feces UMLS:C0474585|MSH:D008551|UMLS:C0025222|SNOMEDCT_US:35064005|SNOMEDCT_US:267055007|SNOMEDCT_US:2901004|SNOMEDCT_US:269899009|SNOMEDCT_US:249627005 human_phenotype owl:Class HP:0002239 biolink:NamedThing Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl GI hemorrhage|GI haemorrhage|Gastrointestinal haemorrhage|Gastrointestinal bleeding UMLS:C0017181|SNOMEDCT_US:74474003|MSH:D006471 human_phenotype owl:Class MONDO:0003758 biolink:NamedThing childhood testicular germ cell tumor A germ cell tumor that arises from the testis during childhood. tmpak2llvmy_mondo_relaxed.owl testicular germ cell tumor|childhood testicular germ cell neoplasm|pediatric testicular germ cell tumor|pediatric testicular germ cell neoplasm|childhood testicular germ cell tumor|testicular germ cell tumor of childhood UMLS:C0796663|DOID:6082|NCIT:C6552 owl:Class MONDO:0037250 biolink:NamedThing childhood testicular neoplasm A neoplasm that arises from the testis during childhood. tmpak2llvmy_mondo_relaxed.owl testicular tumor, childhood|pediatric neoplasm of the testis|pediatric testicular neoplasm|childhood neoplasm of the testis|childhood neoplasm of testis|neoplasm of testis of childhood|pediatric neoplasm of testis|childhood testicular neoplasm NCIT:C5053 owl:Class MONDO:0015028 biolink:NamedThing 48,XXYY syndrome The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. tmpak2llvmy_mondo_relaxed.owl XXYY syndrome|48,XXYY Klinefelter syndrome|48, XXYY syndrome|48,XXYY variant of Klinefelter's syndrome ICD9:758.81|MedDRA:10048230|ICD10:Q98.8|UMLS:C2936741|Orphanet:10|NCIT:C89801|GARD:0005677|SCTID:403760006 https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome owl:Class MONDO:0021562 biolink:NamedThing omphalitis Inflammation of the umbilical cord stump in newborns. tmpak2llvmy_mondo_relaxed.owl Omphalitis|omphalitis GTR:AN0533760|NCIT:C116008|UMLS:C0028992|SCTID:239095007 owl:Class MONDO:0045036 biolink:NamedThing primary infectious A characteristic of an infectious disease in which the disease affects an immunologically normal host. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045034 biolink:NamedThing infectious disease characteristic tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0072524 biolink:NamedThing pyridine-containing compound metabolic process The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpak2llvmy_mondo_relaxed.owl pyridine and derivative metabolic process|pyridine-containing compound metabolism owl:Class GO:1901360 biolink:NamedThing organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. tmpak2llvmy_mondo_relaxed.owl organic cyclic compound metabolism owl:Class MONDO:0009452 biolink:NamedThing Vici syndrome A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. tmpak2llvmy_mondo_relaxed.owl VICIS|corpus callosum agenesis-cataract-immunodeficiency syndrome|Vici syndrome|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|absent corpus callosum cataract immunodeficiency|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|Dionisi Vici Sabetta Gambarara syndrome|absent corpus callosum-cataract-immunodeficiency syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|Dionisi-Vici-Sabetta-Gambarara syndrome OMIM:242840|Orphanet:1493|ICD10:Q87.8|GARD:0000448|SCTID:719824001|NCIT:C138174|UMLS:C1855772|MESH:C535566|DOID:0060356 https://rarediseases.info.nih.gov/diseases/448/vici-syndrome owl:Class CHEBI:33461 biolink:NamedThing phosphorus oxoanion tmpak2llvmy_mondo_relaxed.owl oxoanions of phosphorus|phosphorus oxoanion|phosphorus oxoanions owl:Class CHEBI:33459 biolink:NamedThing pnictogen oxoanion tmpak2llvmy_mondo_relaxed.owl pnictogen oxoanions|pnictogen oxoanion owl:Class MONDO:0023089 biolink:NamedThing erythroplakia A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl erythroplakia GARD:0006378|NCIT:C3025|UMLS:C0014818|EFO:1001786 https://rarediseases.info.nih.gov/diseases/6378/erythroplakia owl:Class MONDO:0017770 biolink:NamedThing Robinow-like syndrome Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Saal-Greenstein syndrome UMLS:CN203671|SCTID:721905000|Orphanet:3105|UMLS:C4302956|ICD10:Q87.1 owl:Class GO:2000258 biolink:NamedThing negative regulation of protein activation cascade Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein activation pathway|negative regulation of protein activitory cascade owl:Class UBERON:0003438 biolink:NamedThing iris nerve Any nerve that innervates the iris. tmpak2llvmy_mondo_relaxed.owl nerve of iris|ciliary nerve owl:Class UBERON:0004389 biolink:NamedThing epiphysis of metatarsal bone An epiphysis that is part of a metatarsal bone [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiphysis of metatarsal|metatarsal epiphysis|metatarsal bone epiphysis owl:Class MONDO:0017046 biolink:NamedThing neuroepithelioma Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation. tmpak2llvmy_mondo_relaxed.owl Orphanet:2677|ICD10:C71.9|GARD:0003963 Editor note: see also MONDO:0005462 and MONDO:0021193 https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma owl:Class MONDO:0043549 biolink:NamedThing crush syndrome A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. tmpak2llvmy_mondo_relaxed.owl ischemic muscular necrosis syndrome|myoglobinuric acute renal failure|renal failure following crushing injury|myoglobinuric nephrosis|acute renal failure due to rhabdomyolysis|crush syndromes|crush kidney|syndromes, crush|bywaters' syndrome|syndrome, crush|crush syndrome MESH:D003444|SCTID:23697004 owl:Class CL:1000497 biolink:NamedThing kidney cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001010 cell owl:Class UBERON:0001620 biolink:NamedThing central retinal artery The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl Zinn's artery|retinal artery|central artery of retina|central artery of the retina|arteria centralis retinae owl:Class HP:0001927 biolink:NamedThing Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. tmpak2llvmy_mondo_relaxed.owl Red cell acanthocytosis|Acanthocytes SNOMEDCT_US:250249008|UMLS:C0687751 HP:0005552 human_phenotype owl:Class MONDO:0017155 biolink:NamedThing pulmonary arterial hypertension associated with schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. tmpak2llvmy_mondo_relaxed.owl PAH associated with schistosomiasis 2022-03-01 UMLS:C3697477|ICD10:I27.2|ICD9:416.8|EFO:0009198|Orphanet:275823|SCTID:697907008 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0017150 biolink:NamedThing pulmonary arterial hypertension associated with another disease Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. tmpak2llvmy_mondo_relaxed.owl PAH associated with another disease|secondary PAH 2022-03-01 ICD10:I27.2|EFO:0009193|Orphanet:275791|UMLS:CN202577 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class GO:0030193 biolink:NamedThing regulation of blood coagulation Any process that modulates the frequency, rate or extent of blood coagulation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000470 biolink:NamedThing positive regulation of peroxidase activity Any process that activates or increases the frequency, rate or extent of peroxidase activity. tmpak2llvmy_mondo_relaxed.owl positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of peroxidase reaction|positive regulation of oxyperoxidase activity owl:Class GO:0051353 biolink:NamedThing positive regulation of oxidoreductase activity Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpak2llvmy_mondo_relaxed.owl ribonucleotide reductase activating enzyme activity|stimulation of oxidoreductase activity|oxidoreductase activator|up-regulation of oxidoreductase activity|up regulation of oxidoreductase activity|activation of oxidoreductase activity|upregulation of oxidoreductase activity owl:Class MONDO:0011866 biolink:NamedThing pontocerebellar hypoplasia type 1A Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene. tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia with anterior horn cell disease|Pch1|pontocerebellar hypoplasia with infantile spinal muscular atrophy|PCH1A|non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|VRK1 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 1A OMIM:607596|DOID:0060265 owl:Class UBERON:0004385 biolink:NamedThing epiphysis of radius An epiphysis that is part of a radius [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl radial epiphysis owl:Class MONDO:0016411 biolink:NamedThing hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. tmpak2llvmy_mondo_relaxed.owl UMLS:CN201345|Orphanet:226307|ICD10:E03.1 owl:Class MONDO:0016410 biolink:NamedThing central congenital hypothyroidism Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. tmpak2llvmy_mondo_relaxed.owl thyrotropin deficiency|thyroid stimulating hormone deficiency|secondary hypothyroidism|hypothalamic-pituitary hypothyroidism|TSH deficiency|central hypothyroidism GARD:0012280|NCIT:C113144|ICD10:E03.1|Orphanet:226298 https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism owl:Class MONDO:0006861 biolink:NamedThing myeloid sarcoma A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl sarcoma, myeloid, malignant|MS|chloroma|granulocytic sarcoma|myeloid sarcoma|extramedullary myeloid tumor GARD:0012763|ICD10:C92.30|MedDRA:10028562|ONCOTREE:MS|ICD9:205.3|EFO:1001052|MESH:D023981|Orphanet:86850|ICD10:C92.3|NCIT:C3520|ICDO:9930/3|DOID:8683 owl:Class HGNC:27288 biolink:NamedThing ACSF3 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50266 biolink:NamedThing prodrug A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. tmpak2llvmy_mondo_relaxed.owl Prodrugs owl:Class CHEBI:136859 biolink:NamedThing pro-agent A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. tmpak2llvmy_mondo_relaxed.owl proagent|proagents|pro-agents owl:Class UBERON:0003301 biolink:NamedThing roof plate of diencephalon A roof plate that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl roof plate diencephalic region|roof plate of interbrain|diencephalon roofplate|mature diencephalon roof plate|between brain roofplate|roof plate of between brain|diencephalon roof plate|roofplate of interbrain|between brain roof plate|roofplate of mature diencephalon|interbrain roofplate|roofplate of diencephalon|roofplate medulla diencephalon|roof plate diencephalon|roofplate of between brain|mature diencephalon roofplate|interbrain roof plate|roof plate of mature diencephalon owl:Class MONDO:0000188 biolink:NamedThing GLUT1 deficiency syndrome tmpak2llvmy_mondo_relaxed.owl GLUT1 deficiency syndrome|GLUT1DS OMIMPS:606777 Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 owl:Class MONDO:0005484 biolink:NamedThing colorectal adenoma An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpak2llvmy_mondo_relaxed.owl colorectal adenoma|large bowel adenoma|adenoma of the large bowel|colorectum adenoma|adenoma of large intestine|large intestine adenoma|adenoma of large bowel|adenoma of the large intestine EFO:0005406|DOID:0050914|UMLS:C1302401|NCIT:C5673|SCTID:399432003|DOID:0050860 MONDO:0000529 owl:Class MONDO:0006180 biolink:NamedThing digestive system adenoma A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation. tmpak2llvmy_mondo_relaxed.owl digestive system adenoma|GI adenoma|digestive tract adenoma|gastrointestinal adenoma UMLS:C0948101|DOID:4147|NCIT:C36207|EFO:1000217 owl:Class MONDO:0008187 biolink:NamedThing panic disorder 1 tmpak2llvmy_mondo_relaxed.owl panic disorder susceptibility locus, chromosome 13Q-related|panic disorder with Joint laxity|panic disorder with bladder conditions|panic disorder|PAND1|panic disorder 1 OMIM:167870 owl:Class UBERON:0006260 biolink:NamedThing lingual swellings tmpak2llvmy_mondo_relaxed.owl lingual swelling owl:Class MONDO:0007406 biolink:NamedThing cryofibrinogenemia, familial primary tmpak2llvmy_mondo_relaxed.owl cryofibrinogenemia, familial primary MESH:C565142|OMIM:123540|UMLS:C1852457 owl:Class MONDO:0016262 biolink:NamedThing leiomyosarcoma of the corpus uteri An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of corpus uteri|leiomyosarcoma of the body of uterus|uterine body leiomyosarcoma|leiomyosarcoma of body of uterus|leiomyosarcoma of uterus|body of uterus leiomyosarcoma|leiomyosarcoma of the uterine corpus|uterine corpus leiomyosarcoma|leiomyosarcoma of the corpus uteri|leiomyosarcoma of the uterine body|uterus leiomyosarcoma|leiomyosarcoma - uterus|corpus uteri leiomyosarcoma|uterine leiomyosarcoma|leiomyosarcoma of uterine corpus|leiomyosarcoma of the uterus|leiomyosarcoma of uterine body SCTID:447389009|ICD10:C54.2|NCIT:C6340|ONCOTREE:ULMS|UMLS:C0280631|Orphanet:213625|DOID:5289 owl:Class CL:0000160 biolink:NamedThing goblet cell A cell of the epithelial lining that produce and secrete mucins. tmpak2llvmy_mondo_relaxed.owl chalice cell FMA:13148|http://en.wikipedia.org/wiki/Goblet_cell|BTO:0001540 cell owl:Class GO:0045652 biolink:NamedThing regulation of megakaryocyte differentiation Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045637 biolink:NamedThing regulation of myeloid cell differentiation Any process that modulates the frequency, rate or extent of myeloid cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005155 biolink:NamedThing cirrhosis of liver A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. tmpak2llvmy_mondo_relaxed.owl cirrhosis|cirrhosis of liver|liver cirrhosis UMLS:C0023890|NCIT:C2951|EFO:0001422|MESH:D008103|DOID:5082|ICD9:571.5|ICD10:K74.60|SCTID:19943007 owl:Class UBERON:0001176 biolink:NamedThing right hepatic duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. tmpak2llvmy_mondo_relaxed.owl ductus hepaticus dexter owl:Class MONDO:0009047 biolink:NamedThing cryptorchidism The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. tmpak2llvmy_mondo_relaxed.owl cryptorchidism (disease)|undescended testicle|undescended testicles|undescended testes|undescended testis|cryptorchidism, unilateral or bilateral|cryptorchism|cryptorchidism cryptorchidism (disease) ICD9:752.5|EFO:0004562|SCTID:204878001|OMIM:219050|MESH:D003456|ICD10:Q53.9|NCIT:C12326|HP:0000028|ICD9:752.51|DOID:11383 owl:Class MONDO:0002886 biolink:NamedThing common bile duct disease A disease involving the common bile duct. tmpak2llvmy_mondo_relaxed.owl common bile duct disease|disorder of common bile duct|common bile duct disease or disorder|disease or disorder of common bile duct|disease of common bile duct UMLS:C0009440|MESH:D003137|DOID:4137 owl:Class MONDO:0009260 biolink:NamedThing GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. tmpak2llvmy_mondo_relaxed.owl gangliosidosis, generalized GM1, type I, with Cardiac involvement|Beta-galactosidase-1 deficiency|gangliosidosis generalized GM1 infantile form|GM1-gangliosidosis, type I, with Cardiac involvement|GM1-gangliosidosis, type I|infantile GM1 gangliosidosis|gangliosidosis, generalized GM1, infantile form|GLB deficiency type 1|gangliosidosis generalized GM1 type 1|GM1-gangliosidosis, type 1|gangliosidosis, generalized GM1, type 1|Glb1 deficiency|Norman-Landing disease|Beta galactosidase deficiency type 1 ICD10:E75.1|DOID:0080502|OMIM:230500|Orphanet:79255|GARD:0006479|SCTID:238026007 MONDO:0023211 https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 owl:Class MONDO:0005462 biolink:NamedThing primitive neuroectodermal tumor A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. tmpak2llvmy_mondo_relaxed.owl neuroepithelioma|neuroectodermal tumor|primitive neuroectodermal tumor (PNET)|PNET|primitive neuroectodermal neoplasm|primitive neuroectodermal tumor|neuroectodermal neoplasm ICDO:9473/3|NCIT:C3716|ICDO:9503/3|MESH:D017599|ONCOTREE:PNET|EFO:0005235|DOID:171 Editor note: TODO check relationship to neuroepithelioma owl:Class UBERON:0008824 biolink:NamedThing duct of epididymis Any duct branching of of the main epididymis duct. tmpak2llvmy_mondo_relaxed.owl epididymis duct|epididymal duct owl:Class ECTO:0010001 biolink:NamedThing exposure to qualitative environmental quality A exposure event involving the interaction of an exposure receptor to qualitative. tmpak2llvmy_mondo_relaxed.owl qualitative exposure owl:Class MONDO:0021333 biolink:NamedThing carcinoma of lip A carcinoma that involves the lip. tmpak2llvmy_mondo_relaxed.owl lip carcinoma|carcinoma of the Lip|carcinoma of lip|lip cancer NCIT:C3490|SCTID:269515006|UMLS:C0149637 owl:Class GO:0051047 biolink:NamedThing positive regulation of secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl up-regulation of secretion|stimulation of secretion|up regulation of secretion|activation of secretion|upregulation of secretion owl:Class HGNC:18873 biolink:NamedThing IFIH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001926 biolink:NamedThing ureteral disease A non-neoplastic or neoplastic disorder affecting the ureter. tmpak2llvmy_mondo_relaxed.owl disorder of ureter|disease or disorder of ureter|disease of ureter|ureteric disorder|ureteric disease|ureter disease|ureter disorder|ureter disease or disorder NCIT:C27148|DOID:1426|SCTID:128073008|UMLS:C0403608|UMLS:C0041954|MESH:D014515 owl:Class MONDO:0044965 biolink:NamedThing abdominal and pelvic region disorder A disease or disorder that involves the abdominal segment of trunk. tmpak2llvmy_mondo_relaxed.owl disease or disorder of abdominal segment of trunk|abdominal segment of trunk disease|abdominal segment of trunk disease or disorder|disorder of abdominal segment of trunk|disease of abdominal segment of trunk SCTID:609618002|UMLS:C3661988 owl:Class MONDO:0012764 biolink:NamedThing RIDDLE syndrome An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. tmpak2llvmy_mondo_relaxed.owl radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RNF168 deficiency|RIDDLE syndrome|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome OMIM:611943|DOID:0090113|Orphanet:420741|EFO:0009055|UMLS:C2677792|MESH:C567453|ICD10:D82.8 owl:Class MONDO:0020045 biolink:NamedThing autosomal recessive cerebellar ataxia due to a DNA repair defect tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:G11.3|UMLS:CN227741|Orphanet:98097 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autosomal recessive cerebellar ataxia' MONDO_0015244 owl:Class GO:0034760 biolink:NamedThing negative regulation of iron ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down regulation of transmembrane iron ion transport|negative regulation of transmembrane iron transport|downregulation of transmembrane iron ion transport|inhibition of transmembrane iron ion transport|negative regulation of iron ion membrane transport|negative regulation of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport owl:Class GO:0034759 biolink:NamedThing regulation of iron ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl regulation of transmembrane iron transport|regulation of iron ion membrane transport|regulation of transmembrane iron ion transport|regulation of transmembrane Fe transport owl:Class GO:0045764 biolink:NamedThing positive regulation of cellular amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpak2llvmy_mondo_relaxed.owl activation of amino acid metabolic process|up-regulation of amino acid metabolic process|stimulation of amino acid metabolic process|positive regulation of amino acid metabolism|upregulation of amino acid metabolic process|up regulation of amino acid metabolic process owl:Class GO:0062013 biolink:NamedThing positive regulation of small molecule metabolic process Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of small molecule metabolism owl:Class MONDO:0019700 biolink:NamedThing primary bone dysplasia with multiple joint dislocations tmpak2llvmy_mondo_relaxed.owl primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations 2022-01-01 Orphanet:93441 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class CHEBI:36309 biolink:NamedThing cyclic tetrapyrrole tmpak2llvmy_mondo_relaxed.owl macrocyclic tetrapyrroles|cyclic tetrapyrroles|macrocyclic tetrapyrrole owl:Class CHEBI:26932 biolink:NamedThing tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpak2llvmy_mondo_relaxed.owl tetrapyrrole|a tetrapyrrole|tetrapyrroles owl:Class MONDO:0012578 biolink:NamedThing autism, susceptibility to, 13 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 13|AUTS13 OMIM:610908 owl:Class MONDO:0020836 biolink:NamedThing autism, susceptiblity to tmpak2llvmy_mondo_relaxed.owl OMIMPS:209850 owl:Class UBERON:0002807 biolink:NamedThing right occipital lobe An occipital lobe that is part of a right cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002021 biolink:NamedThing occipital lobe Posterior part of the cerebral hemisphere (MSH) tmpak2llvmy_mondo_relaxed.owl regio occipitalis|lobus occipitalis owl:Class MONDO:0021535 biolink:NamedThing pancreatic neuroendocrine tumor G1 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. tmpak2llvmy_mondo_relaxed.owl pancreas neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of pancreas|pancreas NET G1|pancreas carcinoid tumor|pancreatic NET G1|pancreatic neuroendocrine tumor G1|pancreas neuroendocrine neoplasm G1 SCTID:254613007|NCIT:C95584 owl:Class MONDO:0005369 biolink:NamedThing carcinoid tumor A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. tmpak2llvmy_mondo_relaxed.owl NET G1|carcinoid tumor (disease)|carcinoid|neuroendocrine neoplasm G1|neuroendocrine tumor G1|carcinoid tumor carcinoid tumor (disease) MESH:D002276|GARD:0009316|HP:0100570|EFO:0004243|ICDO:8240/3|SCTID:443492008|ICD9:209.60|NCIT:C2915|ICDO:8241/3 Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources owl:Class GO:0030097 biolink:NamedThing hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. tmpak2llvmy_mondo_relaxed.owl hematopoiesis|blood cell biosynthesis|blood cell formation|haemopoiesis owl:Class GO:0048534 biolink:NamedThing hematopoietic or lymphoid organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. tmpak2llvmy_mondo_relaxed.owl haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development owl:Class MONDO:0022904 biolink:NamedThing cryofibrinogenemia tmpak2llvmy_mondo_relaxed.owl cryofibrinogenemia SCTID:10934005|ICD9:286.9|GARD:0009908|UMLS:C0272263|MESH:C536218 https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia owl:Class CL:0000115 biolink:NamedThing endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. tmpak2llvmy_mondo_relaxed.owl endotheliocyte FMA:66772|CALOHA:TS-0278|BTO:0001176 From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. cell owl:Class MONDO:0100058 biolink:NamedThing hypervalinemia and hyperleucine-isoleucinemia Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. tmpak2llvmy_mondo_relaxed.owl branched-chain aminotransferase deficiency|hypervalinemia and hyperleucine-isoleucinemia|HVLI 2018-08-31 20:51:10+00:00 OMIM:618850 MONDO:0030016 owl:Class MONDO:0019242 biolink:NamedThing inborn disorder of branched-chain amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of branched-chain amino acid metabolism|disorder of branched chain amino acid metabolism|inborn error of branched-chain amino acid metabolic process|rare inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|branched chain amino acid metabolism disorder Orphanet:79197|UMLS:C0342712|ICD10:E71.2|ICD10:E71.1|SCTID:116020001|ICD10:E71.0 Editor note: consider parent for non-inborn form owl:Class UBERON:0003571 biolink:NamedThing trachea connective tissue A portion of connective tissue that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl connective tissue of trachea|connective tissue of windpipe owl:Class MONDO:0006978 biolink:NamedThing splenic infarction Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl infarct of the spleen|splenic infarction|splenic infarct|splenic infarcts MESH:D013159|ICD10:D73.5|DOID:2533|ICD9:289.59|SCTID:22996003|EFO:1001190|UMLS:C0037998|GARD:0009973|MedDRA:10041648 owl:Class MONDO:0020674 biolink:NamedThing vascular insufficiency disorder tmpak2llvmy_mondo_relaxed.owl vascular insufficiency SCTID:86341008 owl:Class MONDO:0007614 biolink:NamedThing congenital fibrosis of extraocular muscles tmpak2llvmy_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, 1|blepharoptosis with absent eye movements|fibrosis of extraocular muscles, congenital, 3B|FEOM|ophthalmoplegia, congenital|fibrosis of extraocular muscles, congenital, type 1|Feom1 locus|congenital fibrosis of the extraocular muscles|Tukel syndrome|CFEOM1|fibrosis of extraocular muscles, congenital OMIMPS:135700|ICD10:H49.8|GARD:0012590|UMLS:CN043677|ICD9:728.2|SCTID:400946004|DOID:0080143|Orphanet:45358|UMLS:C1302995 owl:Class MONDO:0044906 biolink:NamedThing bladder urothelial papilloma A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. tmpak2llvmy_mondo_relaxed.owl bladder urothelial papilloma|urinary bladder urothelial papilloma|bladder transitional cell papilloma|urinary bladder transitional cell papilloma NCIT:C39858 owl:Class MONDO:0004041 biolink:NamedThing urothelial papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. tmpak2llvmy_mondo_relaxed.owl bladder transitional cell papilloma|uPA|urothelial papilloma|bladder papilloma|transitional cell papilloma of bladder ONCOTREE:UPA|NCIT:C3842|ICDO:8120/1|DOID:6933 owl:Class GO:0055082 biolink:NamedThing cellular chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048878 biolink:NamedThing chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38147 biolink:NamedThing cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. tmpak2llvmy_mondo_relaxed.owl cardiotonic drugs owl:Class CHEBI:35554 biolink:NamedThing cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. tmpak2llvmy_mondo_relaxed.owl cardiovascular drugs|cardiovascular agent owl:Class MONDO:0010851 biolink:NamedThing Lowry-MacLean syndrome Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. tmpak2llvmy_mondo_relaxed.owl intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry MacLean syndrome|Lowry-MacLean syndrome|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure GARD:0003300|Orphanet:2409|MESH:C537037|SCTID:721974000|ICD10:Q87.8|OMIM:600252|UMLS:C0796020 owl:Class GO:0046541 biolink:NamedThing saliva secretion The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. tmpak2llvmy_mondo_relaxed.owl salivation owl:Class GO:0032941 biolink:NamedThing secretion by tissue The controlled release of a substance by a tissue. tmpak2llvmy_mondo_relaxed.owl tissue secretion|expulsion of gland contents owl:Class MONDO:0008919 biolink:NamedThing systemic primary carnitine deficiency disease Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. tmpak2llvmy_mondo_relaxed.owl primary carnitine deficiency|Carnitine transporter, plasma-Membrane, deficiency of|SPCD|systemic primary carnitine deficiency disease|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|renal carnitine transport defect|carnitine transporter deficiency|carnitine uptake defect|Carnitine uptake deficiency|systemic primary carnitine deficiency|Carnitine deficiency, primary|Carnitine transporter defect|Carnitine uptake defect|cud|Carnitine plasma-membrane transporter deficiency|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|systemic Carnitine deficiency|deficiency of plasma-membrane carnitine transporter|CDSP|Carnitine deficiency|CARNITINE deficiency, systemic primary NCIT:C98864|ICD10:E71.3|ICD10:E71.42|Orphanet:158|DOID:14365|ICD9:277.81|ICD9:277.82|OMIM:212140|ICD10:E71.41|MESH:C536778|SCTID:21764004|GARD:0005104|UMLS:C0342788 owl:Class MONDO:0016336 biolink:NamedThing fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:217616|UMLS:CN226905 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO_0017713 owl:Class MONDO:0034022 biolink:NamedThing Bethlem myopathy 2 tmpak2llvmy_mondo_relaxed.owl COL12A1 Bethlem myopathy|Ehlers-Danlos syndrome, myopathic type|EDS, myopathic type|BTHLM2|Bethlem myopathy 2|Bethlem myopathy caused by mutation in COL12A1|myopathic EDS|myopathic Ehlers-Danlos syndrome|Bethlem myopathy type 2 Orphanet:536516|UMLS:C4225313|OMIM:616471 owl:Class MONDO:0020066 biolink:NamedThing Ehlers-Danlos syndrome The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. tmpak2llvmy_mondo_relaxed.owl Ehler Danlos Syndrome|Meekeren-Ehlers-Danlos syndrome|Disease, Ehlers Danlos|Dystrophia mesodermalis congenita|Hereditary collagen dysplasia|Syndrome, Ehlers-Danlos|elastic skin|danlos ehlers syndrome|skin elastic|Fibrodysplasia elastica generalisata|Ehlers-Danlos syndromes|Ehlers Danlos syndrome|EDS|ED syndrome|Ehlers-Danlos Disease|Danlos disease|Danlos Disease, Ehlers|Ehlers Danlos Disease|Disease, Ehlers-Danlos ICD10:Q79.6|GARD:0006322|DOID:13359|ICD9:756.83|MESH:D004535|UMLS:C0013720|NCIT:C34568|Orphanet:98249|MedDRA:10014316|OMIMPS:130000|SCTID:398114001 India rubber skin|Cutis hyperelastica owl:Class UBERON:0004790 biolink:NamedThing skin mucous gland A mucous gland that is part of the skin. tmpak2llvmy_mondo_relaxed.owl mucous gland of entire skin|skin of body mucous gland|mucous gland of skin of body|skin mucus gland owl:Class UBERON:0000414 biolink:NamedThing mucous gland A gland in which the principal secretory cells are mucus secreting cells. tmpak2llvmy_mondo_relaxed.owl mucus-secreting gland|glandula mucosa|muciparous gland|mucus gland|mucous secreting gland owl:Class MONDO:0003194 biolink:NamedThing hemangioma of lung A hemangioma that involves the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary hemangioma|lung hemangioma DOID:490 owl:Class MONDO:0003599 biolink:NamedThing vulvar liposarcoma A rare malignant adipose tissue neoplasm of the vulva. tmpak2llvmy_mondo_relaxed.owl vulvar liposarcoma|mammalian vulva liposarcoma|liposarcoma of mammalian vulva UMLS:C2184082|DOID:5711|NCIT:C40321 owl:Class MONDO:0005214 biolink:NamedThing vulva sarcoma A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl mammalian vulva sarcoma|sarcoma of mammalian vulva|vulvar sarcoma|sarcoma of vulva NCIT:C40317|SCTID:254897006|DOID:2096|EFO:0002920|UMLS:C0238525 owl:Class UBERON:0010343 biolink:NamedThing 2nd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 2nd arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl mesenchyme derived from head mesoderm of mesenchyme of 2nd arch|head mesenchyme derived arch 2 mesenchyme|branchial arch 2 mesenchyme from head mesenchyme|pharyngeal arch 2 mesenchyme from head mesenchyme owl:Class ENVO:01001154 biolink:NamedThing volatile astrogeological material A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet. tmpak2llvmy_mondo_relaxed.owl volatile owl:Class GO:0002864 biolink:NamedThing regulation of acute inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3823 biolink:NamedThing FOXP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001679 biolink:NamedThing Abnormal aortic morphology An abnormality of the aorta. tmpak2llvmy_mondo_relaxed.owl Abnormal aorta morphology|Abnormality of the aorta Fyler:1453|UMLS:C4025756 HP:0030963 human_phenotype owl:Class HP:0011004 biolink:NamedThing Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. tmpak2llvmy_mondo_relaxed.owl Abnormal systemic artery morphology|Arterial abnormalities|Systemic artery abnormality|Abnormality of the systemic arterial tree UMLS:C4021205|UMLS:C0151489|Fyler:2600|SNOMEDCT_US:234119001 peter 2011-02-16T08:46:49Z HP:0002620|HP:0005114 human_phenotype owl:Class MONDO:0018346 biolink:NamedThing ferro-cerebro-cutaneous syndrome tmpak2llvmy_mondo_relaxed.owl cerebro-cutaneous syndrome with iron overload UMLS:CN226080|Orphanet:397922|ICD10:G23.0 owl:Class MONDO:0015508 biolink:NamedThing genetic parenchymatous liver disease tmpak2llvmy_mondo_relaxed.owl Orphanet:156604|UMLS:CN199641 owl:Class MONDO:0009554 biolink:NamedThing 3MC syndrome 3 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. tmpak2llvmy_mondo_relaxed.owl facial clefting syndrome, Gypsy type|Malpuech Facial clefting syndrome|3Mc syndrome type 3|3MC3|3MC syndrome caused by mutation in COLEC10|3MC syndrome type 3|3MC syndrome 3|COLEC10 3MC syndrome|Malpuech Facial clefting syndrome, formerly DOID:0060577|OMIM:248340|UMLS:C0796032|MESH:C535704|Orphanet:2453 owl:Class MONDO:0017398 biolink:NamedThing 3MC syndrome 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. tmpak2llvmy_mondo_relaxed.owl oculopalatoskeletal syndrome|craniofacial-ulnar-renal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome OMIMPS:257920|UMLS:CN230015|Orphanet:293843|DOID:0060225|SCTID:720756005|GARD:0001118|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome owl:Class MONDO:0021498 biolink:NamedThing benign neoplasm of placenta A benign neoplasm that involves the placenta. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the placenta|benign placental neoplasm|benign tumor of the placenta|benign placenta tumor|benign placenta neoplasm|benign tumor of placenta|benign placental tumor|placental neoplasms, benign|placenta benign neoplasm ICD9:219.8|NCIT:C8545|UMLS:C0686274|SCTID:92297008 owl:Class MONDO:0021218 biolink:NamedThing placenta neoplasm A neoplasm (disease) that involves the placenta. tmpak2llvmy_mondo_relaxed.owl trophoblastic tumor placental site|placenta tumor|tumor of the placenta|placenta neoplasms|placenta tumors|placental tumor|placenta neoplasm (disease)|placental neoplasm|placental tumors|tumor of placenta|neoplasm of the placenta|neoplasm of placenta NCIT:C4858|GARD:0007403 owl:Class UBERON:0002012 biolink:NamedThing pulmonary artery An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. tmpak2llvmy_mondo_relaxed.owl pulmonary arterial tree|pulmonary arterial tree organ part|pulmonary arterial subtree|truncus pulmonalis|arteria pulmonalis owl:Class UBERON:0013768 biolink:NamedThing great vessel of heart Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. tmpak2llvmy_mondo_relaxed.owl great vessel|great vessel of thorax owl:Class MONDO:0006913 biolink:NamedThing pneumococcal meningitis An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) tmpak2llvmy_mondo_relaxed.owl Streptococcus pneumoniae caused infectious meningitis|Streptococcus pneumoniae infectious meningitis MedDRA:10027253|UMLS:C0025295|ICD10:G00.1|EFO:1001114|ICD9:320.1|SCTID:51169003|MESH:D008586|MedDRA:10035645|Orphanet:55655 owl:Class MONDO:0001316 biolink:NamedThing streptococcal meningitis An infectious meningitis caused by infection with Streptococcus. tmpak2llvmy_mondo_relaxed.owl Streptococcus caused infectious meningitis|Streptococcus infectious meningitis ICD10:G00.2|ICD9:320.2|DOID:11574|UMLS:C0154639|SCTID:4510004 owl:Class NCBITaxon:29185 biolink:NamedThing Rotaliida tmpak2llvmy_mondo_relaxed.owl Rotaliina GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29178 biolink:NamedThing Foraminifera tmpak2llvmy_mondo_relaxed.owl forams|Foraminiferida|foraminifers GC_ID:1 ncbi_taxonomy owl:Class GO:0050869 biolink:NamedThing negative regulation of B cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. tmpak2llvmy_mondo_relaxed.owl down-regulation of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B-cell activation|down regulation of B cell activation|inhibition of B cell activation|downregulation of B cell activation|negative regulation of B lymphocyte activation owl:Class CHEBI:26948 biolink:NamedThing vitamin B1 Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms). tmpak2llvmy_mondo_relaxed.owl thiamine|thiamines|thiamins|vitamin B1 vitamer|vitamin B1 vitamers|vitamin B1|vitamins B1 owl:Class CHEBI:63048 biolink:NamedThing 1,3-thiazolium cation An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole. tmpak2llvmy_mondo_relaxed.owl 1,3-thiazolium cations owl:Class MONDO:0019781 biolink:NamedThing astrocytoma (excluding glioblastoma) A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. tmpak2llvmy_mondo_relaxed.owl astrocytoma ICDO:9400/3|ONCOTREE:ASTR|SCTID:147101000119108|NCIT:C60781|UMLS:C0004114|MESH:D001254 This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class MONDO:0009507 biolink:NamedThing Lambert syndrome Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome|branchial dysplasia-intellectual disability-inguinal hernia syndrome|branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia OMIM:245550|SCTID:732961003|UMLS:C1855551|GARD:0003169|ICD10:Q87.8|Orphanet:1296|MESH:C538396 https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome owl:Class UBERON:0012504 biolink:NamedThing adventitia of esophagus A adventitia that is part of a esophagus. tmpak2llvmy_mondo_relaxed.owl tunica adventitia oesophageae|esophageal adventitia|adventitious layer of esophagus|esophagus adventitia|adventitia of oesophagus|tunica adventitia (esophagus) owl:Class UBERON:0005742 biolink:NamedThing adventitia An outermost connective tissue covering of an organ, vessel, or other structure[WP]. tmpak2llvmy_mondo_relaxed.owl tunica advetitia|tunica externa owl:Class MONDO:0004208 biolink:NamedThing superior vena cava leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl anterior vena cava leiomyosarcoma|leiomyosarcoma of the Superior vena cava|leiomyosarcoma of Superior vena cava|leiomyosarcoma of anterior vena cava NCIT:C6745|DOID:7390|UMLS:C1336531 owl:Class MONDO:0003032 biolink:NamedThing superior vena cava angiosarcoma A malignant vascular neoplasm arising from the superior vena cava. tmpak2llvmy_mondo_relaxed.owl angiosarcoma (disease) of anterior vena cava|angiosarcoma of the Superior vena cava|anterior vena cava angiosarcoma (disease)|angiosarcoma of Superior vena cava NCIT:C5378|DOID:4522|UMLS:C1336530 owl:Class GO:0051785 biolink:NamedThing positive regulation of nuclear division Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpak2llvmy_mondo_relaxed.owl activation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|up-regulation of nuclear division|upregulation of nuclear division owl:Class HGNC:9701 biolink:NamedThing PURA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018135 biolink:NamedThing oculocutaneous albinism type 1 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). tmpak2llvmy_mondo_relaxed.owl ATN|OCA1|oculocutaneous albinism type 1|oculocutaneous albinism, tyrosinase negative Orphanet:352731|UMLS:CN119529|GARD:0004037|ICD10:E70.3|SCTID:765146000 owl:Class MONDO:0043219 biolink:NamedThing migraine with brainstem aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. tmpak2llvmy_mondo_relaxed.owl vertebrobasilar migraine|basilar-type migraine|basilar artery migraine|MBA|basilar artery migraine with aura|basilar migraine|bickerstaff's migraine|Bickerstaff migraine|brainstem migraine GARD:0005896|NCIT:C117013|SCTID:83351003 owl:Class MONDO:0005475 biolink:NamedThing migraine with aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. tmpak2llvmy_mondo_relaxed.owl classic migraine SCTID:4473006|ICD9:346.0|UMLS:C0154723|MESH:D020325|DOID:10024|HP:0002077|ICD10:G43.1|ICD10:G43.109|EFO:0005295|NCIT:C117005|ICD9:346.00 owl:Class HGNC:11521 biolink:NamedThing TAC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007619 biolink:NamedThing isolated congenital adermatoglyphia Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. tmpak2llvmy_mondo_relaxed.owl isolated congenital adermatoglyphia|absence of fingerprints|congenital absence of fingerprints|ADG|ADERM|adermatoglyphia|fingerprints, absence of|immigration delay disease Orphanet:289465|DOID:0111357|GARD:0012550|ICD10:Q82.8|SCTID:763748007|OMIM:136000|MESH:C565010 owl:Class GO:0046903 biolink:NamedThing secretion The controlled release of a substance by a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006810 biolink:NamedThing transport The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. tmpak2llvmy_mondo_relaxed.owl small molecule transport|solute:solute exchange|single-organism transport owl:Class MONDO:0005565 biolink:NamedThing blastoma A malignant neoplasm composed of undifferentiated cells. tmpak2llvmy_mondo_relaxed.owl embryoma|blastoma EFO:0005785|ICDO:8981/3|NCIT:C8997|DOID:0070003 owl:Class HGNC:15968 biolink:NamedThing GDAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017616 biolink:NamedThing X-linked intellectual disability, Schutz type tmpak2llvmy_mondo_relaxed.owl Orphanet:3062|ICD10:Q87.8 owl:Class MONDO:0002026 biolink:NamedThing candidiasis Infection with the organism Candida. tmpak2llvmy_mondo_relaxed.owl Candida infection|infections, Candida |Candida infection|Candidosis|disseminated candidiasis|systemic candidiasis|thrush SCTID:78048006|ICD9:112.89|UMLS:C0006840|MESH:D002177|DOID:1508|ICD10:B37.9|ICD10:B37|NCIT:C26711|ICD9:112|ICD9:112.9 owl:Class MONDO:0003342 biolink:NamedThing benign perivascular tumor A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpak2llvmy_mondo_relaxed.owl benign Pericytic neoplasm|pericytic neoplasm, benign|benign Pericytic tumor|benign perivascular tumor|benign pericytic neoplasm|benign perivascular neoplasm UMLS:C1332532|DOID:5238|NCIT:C6529 owl:Class MONDO:0012551 biolink:NamedThing alopecia areata 2 tmpak2llvmy_mondo_relaxed.owl alopecia areata 2|AA2 OMIM:610753|UMLS:C1853104|MESH:C565186 owl:Class MONDO:0019080 biolink:NamedThing alopecia totalis Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. tmpak2llvmy_mondo_relaxed.owl total alopecia areata|alopecia totalis GARD:0000613|ICD10:L63.0|ICD9:704.09|UMLS:C0263504|SCTID:19754005|MedDRA:10001766|Orphanet:700 owl:Class GO:0010986 biolink:NamedThing positive regulation of lipoprotein particle clearance Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003437 biolink:NamedThing occult small cell lung carcinoma A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpak2llvmy_mondo_relaxed.owl occult small cell lung carcinoma|occult small cell carcinoma of lung|lung occult small cell carcinoma|occult small cell carcinoma of the lung NCIT:C6683|DOID:5414|UMLS:C1335099 owl:Class MONDO:0019414 biolink:NamedThing BRESEK syndrome X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). tmpak2llvmy_mondo_relaxed.owl BRESHECK syndrome ICD10:Q87.8|SCTID:717945001|UMLS:C3502469|MESH:C564519|Orphanet:85284 owl:Class MONDO:0022018 biolink:NamedThing Borrone di Rocco Crovato syndrome tmpak2llvmy_mondo_relaxed.owl Borrone dermatocardioskeletal syndrome GARD:0000939|MESH:C536577|UMLS:C1859406 https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome owl:Class MONDO:0021463 biolink:NamedThing benign neoplasm of parathyroid gland A benign neoplasm that involves the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the parathyroid gland|benign tumor of parathyroid|benign tumor of the parathyroid|benign neoplasm of parathyroid|benign tumor of the parathyroid gland|benign neoplasm of the parathyroid|parathyroid tumor benign|benign parathyroid tumor|benign parathyroid gland tumor|parathyroid gland benign neoplasm|benign parathyroid neoplasm|benign parathyroid gland neoplasm|benign tumor of parathyroid gland NCIT:C3630|UMLS:C0154041|ICD10:D35.1|SCTID:92272009|ICD9:227.1|DOID:60008 owl:Class MONDO:0000627 biolink:NamedThing benign endocrine neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. tmpak2llvmy_mondo_relaxed.owl endocrine gland benign neoplasm|benign neoplasm of endocrine gland|endocrine organ benign neoplasm|benign endocrine tumor|benign neoplasm of the endocrine gland|benign endocrine neoplasm|benign endocrine gland neoplasm|benign endocrine gland tumor|benign tumor of endocrine gland|benign tumor of the endocrine gland UMLS:C0347524|DOID:0060089|ICD9:227.8|ICD9:227.9|NCIT:C4621|SCTID:92085000 owl:Class MONDO:0018952 biolink:NamedThing argyria Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). tmpak2llvmy_mondo_relaxed.owl Silver staining ICD10:T56.8|MESH:D001129|Orphanet:60014|MedDRA:10003094 owl:Class MONDO:0020502 biolink:NamedThing yellow fever Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. tmpak2llvmy_mondo_relaxed.owl Yellow Jack|urban yellow fever|Yellow fever virus infectious disease|Yellow fever, sylvan|Yellow fever Virus infection|YF|sylvatic yellow fever|bronze John|Yellow fever virus disease or disorder|jungle yellow fever|Yellow fever virus caused disease or disorder GARD:0007914|ICD10:A95.0|UMLS:C0043398|ICD10:A95.1|UMLS:C0043397|ICD10:A95.9|MedDRA:10048240|Orphanet:99829|UMLS:C0043395|DOID:9682|ICD10:A95|ICD9:060|NCIT:C35547|ICD9:060.9|MESH:D015004 https://rarediseases.info.nih.gov/diseases/7914/yellow-fever owl:Class MONDO:0005763 biolink:NamedThing Flaviviridae infectious disease Infections with viruses of the family flaviviridae. tmpak2llvmy_mondo_relaxed.owl Flaviviridae disease or disorder|Flaviviridae caused disease or disorder EFO:0007274|SCTID:111865007|MESH:D018178 owl:Class HP:0001626 biolink:NamedThing Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cardiovascular system|Cardiovascular disease|Cardiovascular abnormality UMLS:C0243050|UMLS:C0007222|SNOMEDCT_US:49601007|MSH:D018376|MSH:D002318 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. human_phenotype owl:Class MONDO:0002477 biolink:NamedThing prostate neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. tmpak2llvmy_mondo_relaxed.owl neuroendocrine neoplasm of prostate gland|prostate gland neuroendocrine tumor|neuroendocrine neoplasm of prostate|prostate neuroendocrine neoplasm|prostate gland NET|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine neoplasm|neuroendocrine tumor of the prostate|prostate neuroendocrine carcinoma|neuroendocrine neoplasm of the prostate UMLS:C1335515|ONCOTREE:PRNE|DOID:2992|NCIT:C5545 owl:Class MONDO:0021259 biolink:NamedThing prostate neoplasm A neoplasm (disease) that involves the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostate tumor|prostate nodule|tumor of prostate|prostate gland neoplasm (disease)|tumor of prostate gland|prostate gland tumor|neoplasm of prostate gland|nodular prostate|neoplasm of the prostate|prostate gland neoplasm|tumor of the prostate|neoplasm of prostate NCIT:C3343|ICD10:N40|DOID:13206|ONCOTREE:PROSTATE|ICD9:600.1 MONDO:0001659 owl:Class MONDO:0020761 biolink:NamedThing Bowen disease of the skin A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. tmpak2llvmy_mondo_relaxed.owl intraepidermal squamous cell carcinoma, Bowen type|Bowen disease|Disease, Bowen's|Bowen Disease|Bowens Disease|Bowen's disease of the skin|Bowen disease of the skin|Disease, Bowen ICDO:8081/2|NCIT:C62571|MESH:D001913|UMLS:C0006079|GARD:0005948 owl:Class MONDO:0020760 biolink:NamedThing skin squamous cell carcinoma in situ Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion. tmpak2llvmy_mondo_relaxed.owl skin squamous cell cancer in situ|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of the skin|squamous cell carcinoma in situ of skin|skin squamous cell carcinoma in situ NCIT:C2906 owl:Class NCBITaxon:200643 biolink:NamedThing Bacteroidia tmpak2llvmy_mondo_relaxed.owl Bacteroidetes GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:976 biolink:NamedThing Bacteroidetes tmpak2llvmy_mondo_relaxed.owl Bacteroidaeota|Cytophaga-Flexibacter-Bacteroides phylum|BCF group|Bacteroides-Cytophaga-Flexibacter group|Bacteroidota|CFB group|CFB group bacteria PMID:29458499|PMID:11542017|PMID:26654112|GC_ID:11|PMID:28066339|PMID:11541229 NCBITaxon:171554 ncbi_taxonomy owl:Class MONDO:0019139 biolink:NamedThing acquired hemophilia Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes. tmpak2llvmy_mondo_relaxed.owl hemophilia, acquired|acquired haemophilia|acquired hemophilia UMLS:C1096116|MESH:C536392|MedDRA:10053745|Orphanet:73274|GARD:0010350|ICD10:D68.311|ICD10:D68.4 owl:Class MONDO:0020599 biolink:NamedThing acquired coagulation factor deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. tmpak2llvmy_mondo_relaxed.owl acquired coagulation factor deficiency|acquired coagulation protein disease UMLS:C0001169|SCTID:25904003|NCIT:C34347 owl:Class MONDO:0042494 biolink:NamedThing childhood malignant melanoma A melanoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric melanoma (disease)|melanoma (disease) of childhood|childhood melanoma|childhood melanoma (disease)|malignant melanoma, childhood UMLS:C4329660|NCIT:C131506|GARD:0000091 owl:Class MONDO:0014015 biolink:NamedThing hereditary spastic paraplegia 56 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. tmpak2llvmy_mondo_relaxed.owl SPG56|autosomal recessive spastic paraplegia type 56|hereditary spastic paraplegia caused by mutation in CYP2U1|CYP2U1 hereditary spastic paraplegia|spastic paraplegia 56, autosomal recessive|hereditary spastic paraplegia type 56|autosomal recessive spastic paraplegia 56 OMIM:615030|DOID:0110808|ICD10:G11.4|UMLS:C3539507|Orphanet:320411 owl:Class MONDO:0017915 biolink:NamedThing pure or complex autosomal recessive spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure or complicated autosomal recessive spastic paraplegia ICD10:G11.4|Orphanet:320346 owl:Class MONDO:0006487 biolink:NamedThing vaginal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. tmpak2llvmy_mondo_relaxed.owl vaginal adenoid cystic cancer|vaginal adenoid cystic carcinoma NCIT:C40261|UMLS:C1519912|EFO:1000617 owl:Class MONDO:0020653 biolink:NamedThing vaginal adenocarcinoma An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl vaginal adenocarcinoma|vagina adenocarcinoma|adenocarcinoma of vagina|adenocarcinoma of the vagina NCIT:C7981|ONCOTREE:VA owl:Class CL:0000568 biolink:NamedThing amine precursor uptake and decarboxylation cell A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. tmpak2llvmy_mondo_relaxed.owl APUD cell FMA:83114|BTO:0003866 cell owl:Class MONDO:0020751 biolink:NamedThing orthostatic hypotension 2 tmpak2llvmy_mondo_relaxed.owl OMIM:618182 owl:Class MONDO:0021272 biolink:NamedThing inherited orthostatic hypotension tmpak2llvmy_mondo_relaxed.owl OMIMPS:223360 owl:Class CL:1000306 biolink:NamedThing fibroblast of tunica adventitia of artery A fibroblast that is part of the tunica adventitia of artery. tmpak2llvmy_mondo_relaxed.owl FMA:261285 cell owl:Class MONDO:0017135 biolink:NamedThing olivopontocerebellar atrophy-deafness syndrome Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. tmpak2llvmy_mondo_relaxed.owl olivopontocerebellar atrophy deafness GARD:0004070|Orphanet:2732|UMLS:CN202542 owl:Class MONDO:0021467 biolink:NamedThing benign neoplasm of renal pelvis A benign neoplasm that involves the renal pelvis. tmpak2llvmy_mondo_relaxed.owl benign tumor of the renal pelvis|renal pelvis benign neoplasm|benign kidney pelvis neoplasm|benign renal pelvis tumor|benign renal pelvis neoplasm|benign tumor of renal pelvis|benign neoplasm of the renal pelvis EFO:1000118|UMLS:C0154015|NCIT:C3616|ICD9:223.1|SCTID:92319008 owl:Class HP:0002186 biolink:NamedThing Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. tmpak2llvmy_mondo_relaxed.owl Apraxias MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007|UMLS:C0003635 human_phenotype owl:Class HP:0011442 biolink:NamedThing Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormality of central motor function UMLS:C4023354 peter 2012-03-18T02:29:04Z human_phenotype owl:Class GO:0097485 biolink:NamedThing neuron projection guidance The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. tmpak2llvmy_mondo_relaxed.owl neurite guidance|neuronal cell projection guidance|neuron protrusion guidance|neuron process guidance owl:Class OBO:CHR_9606-chr13 biolink:NamedThing chr13 (Human) tmpak2llvmy_mondo_relaxed.owl 114364328 0 hg38 owl:Class GO:0120032 biolink:NamedThing regulation of plasma membrane bounded cell projection assembly Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016833 biolink:NamedThing 14q12 microdeletion syndrome 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. tmpak2llvmy_mondo_relaxed.owl monosomy 14q12|Del(14)(q12) UMLS:C4305240|Orphanet:261144|UMLS:CN202163|ICD10:Q93.5|SCTID:719574007 owl:Class MONDO:0037740 biolink:NamedThing malignant central nervous system mesenchymal, non-meningothelial neoplasm A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system. tmpak2llvmy_mondo_relaxed.owl malignant central nervous system soft tissue tumor|malignant soft tissue tumor of CNS|malignant soft tissue tumor of central nervous system|malignant soft tissue tumor of the central nervous system|malignant soft tissue neoplasm of the central nervous system|malignant central nervous system mesenchymal, non-meningothelial neoplasm|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant central nervous system soft tissue neoplasm|soft tissue cancer of the central nervous system|malignant soft tissue neoplasm of central nervous system|malignant CNS soft tissue neoplasm|soft tissue cancer of central nervous system|malignant CNS soft tissue tumor|malignant central nervous system mesenchymal, non-meningothelial tumor|malignant soft tissue neoplasm of CNS|malignant soft tissue neoplasm of the CNS|malignant central nervous system mesenchymal non-meningothelial tumor|malignant soft tissue tumor of the CNS UMLS:C1334571|NCIT:C6758 owl:Class MONDO:0002714 biolink:NamedThing central nervous system cancer A malignant neoplasm involving the central nervous system tmpak2llvmy_mondo_relaxed.owl cancer of the central nervous system|central nervous system tumors|CNS malignant neoplasms|CNS cancer|malignant tumor of the CNS|central nervous system tumor|malignant CNS neoplasms|cancer of CNS|CNS neoplasm|malignant neoplasm of central nervous system|malignant tumor of CNS|malignant neoplasm of the CNS|malignant central nervous system neoplasm|central nervous system neoplasms, malignant|central nervous system cancer|malignant CNS tumor|cancer of the CNS|malignant CNS neoplasm|malignant neoplasm of CNS|malignant tumor of the central nervous system|malignant central nervous system tumor|CNS neoplasms, malignant|malignant tumor of central nervous system|cancer of central nervous system|malignant neoplasm of the central nervous system NCIT:C4627|ICD9:239.7|DOID:3620|ICD10:C72.9|MESH:D016543|EFO:0000326|SCTID:126951006 owl:Class MONDO:0019220 biolink:NamedThing inborn disorder of cobalamin metabolism and transport tmpak2llvmy_mondo_relaxed.owl disorder of cobalamin metabolism and transport|inborn disorder of cobalamin metabolism and transport Orphanet:79171|UMLS:CN227587|UMLS:CN043592 owl:Class MONDO:0004923 biolink:NamedThing chronic inflammation of lacrimal passage tmpak2llvmy_mondo_relaxed.owl UMLS:C0155239|ICD9:375.4|ICD10:H04.4|DOID:9935|SCTID:267653001 owl:Class HGNC:17264 biolink:NamedThing POLR1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008490 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal dominant A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl COL11A2 Stickler syndrome|Stickler syndrome, non-ocular type|heterozygous OSMED|Pierre Robin syndrome with fetal chondrodysplasia|Pierre Robin sequence-fetal chondrodysplasia syndrome|heterozygous otospondylomegaepiphyseal dysplasia|Stickler syndrome, type 3|Weissenbacher- Zweymuller syndrome|Weissenbacher-Zweymüller syndrome|STL3|Stickler syndrome, type III, formerly|Weissenbacher-Zweymuller syndrome|WZS|OSMEDA|Stickler syndrome, Nonocular type|Pierre Robin malformation|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|otospondylomegaepiphyseal dysplasia, autosomal dominant|OSMED, heterozygous|Piere-Robin syndrome|Stickler syndrome nonocular type|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Stickler syndrome caused by mutation in COL11A2|STICKLER syndrome, type III MESH:C535776|ICD10:Q87.5|OMIM:277610|Orphanet:166100|OMIM:184840|ICD10:Q77.7|DOID:4258|GARD:0004351|SCTID:699313003|MESH:C537494|Orphanet:3450|GARD:0005021 owl:Class MONDO:0012192 biolink:NamedThing permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. tmpak2llvmy_mondo_relaxed.owl paca|diabetes mellitus, permanent neonatal, with cerebellar agenesis|pancreatic and cerebellar agenesis OMIM:609069|MESH:C563796|UMLS:C1836780|Orphanet:65288 owl:Class MONDO:0014009 biolink:NamedThing autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis type 7|ichthyosis, congenital, autosomal recessive 7|ARCI7 DOID:0060716|UMLS:C3554348|OMIM:615022|ICD10:Q80.2 owl:Class MONDO:0019306 biolink:NamedThing congenital non-bullous ichthyosiform erythroderma Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. tmpak2llvmy_mondo_relaxed.owl nonbullous congenital ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|ichthyosiform erythroderma|CIE|congenital ichthyosiform erythroderma (disease)|erythrodermic ichthyosis|alligator skin|lamellar desquamation of the newborn|congenital ichthyosiform erythroderma|non-bullous congenital ichthyosiform erythroderma|lamellar ichthyosis SCTID:205550003|ICD10:Q80.2|HP:0007431|Orphanet:79394|DOID:1699 owl:Class UBERON:0003582 biolink:NamedThing nasopharynx connective tissue A portion of connective tissue that is part of a nasopharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rhinopharynx portion of connective tissue|connective tissue of nasal part of pharynx|nasal part of pharynx connective tissue|textus connectivus of rhinopharynx|textus connectivus of nasopharynx|nasopharynx portion of connective tissue|portion of connective tissue of rhinopharynx|textus connectivus of nasal part of pharynx|connective tissue of rhinopharynx|rhinopharynx textus connectivus|nasal part of pharynx portion of connective tissue|nasal part of pharynx textus connectivus|portion of connective tissue of nasal part of pharynx|rhinopharynx connective tissue|connective tissue of nasopharynx|nasopharynx textus connectivus|portion of connective tissue of nasopharynx owl:Class UBERON:0003570 biolink:NamedThing respiratory system connective tissue A portion of connective tissue that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of respiratory system|respiratory system textus connectivus|apparatus respiratorius connective tissue|textus connectivus of apparatus respiratorius|portion of connective tissue of apparatus respiratorius|textus connectivus of respiratory system|apparatus respiratorius portion of connective tissue|connective tissue of apparatus respiratorius|apparatus respiratorius textus connectivus|portion of connective tissue of respiratory system|respiratory system portion of connective tissue owl:Class MONDO:0002702 biolink:NamedThing ovarian cystadenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. tmpak2llvmy_mondo_relaxed.owl ovarian cystadenocarcinoma|cystadenocarcinoma of ovary|ovary cystadenocarcinoma|cystadenocarcinoma of the ovary DOID:3605|EFO:1001962|SCTID:314191009|UMLS:C1096638|NCIT:C5228 owl:Class HP:0001022 biolink:NamedThing Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). tmpak2llvmy_mondo_relaxed.owl Albinism|Achromasia MSH:D000417|SNOMEDCT_US:15890002|SNOMEDCT_US:18064000|UMLS:C0001916|UMLS:C0333913 human_phenotype owl:Class HP:0007513 biolink:NamedThing Generalized hypopigmentation tmpak2llvmy_mondo_relaxed.owl Fair skin|Generalised hypopigmentation|Pale pigmentation UMLS:C1849923 HP:0007419|HP:0000984 human_phenotype owl:Class MONDO:0014725 biolink:NamedThing spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome tmpak2llvmy_mondo_relaxed.owl spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|spastic tetraplegia, thin corpus callosum, and progressive microcephaly|ASCT1 deficiency|SPATCCM UMLS:C4225254|Orphanet:447997|ICD10:Q02|OMIM:616657 owl:Class UBERON:0010686 biolink:NamedThing manual digit phalanx cartilage element A cartilage element that is part of a manual digit mesenchyme. tmpak2llvmy_mondo_relaxed.owl hand digit phalanx cartilage condensation|fore limb digit phalanx cartilage condensation owl:Class HGNC:11730 biolink:NamedThing TERT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009913 biolink:NamedThing prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness tmpak2llvmy_mondo_relaxed.owl prune belly syndrome with pulmonic stenosis, mental retardation, and deafness|prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness SCTID:236529001|UMLS:C0403551|OMIM:264140|MESH:C562894 owl:Class MONDO:0004562 biolink:NamedThing breast apocrine carcinoma in situ A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. tmpak2llvmy_mondo_relaxed.owl apocrine carcinoma in situ of breast|apocrine breast carcinoma in situ|apocrine carcinoma in situ of the breast DOID:8428|UMLS:C1332315|NCIT:C5140 owl:Class MONDO:0004658 biolink:NamedThing breast carcinoma in situ A in situ carcinoma that involves the breast. tmpak2llvmy_mondo_relaxed.owl stage 0 carcinoma of breast|breast cancer stage 0|stage 0 breast carcinoma|non-infiltrating breast carcinoma|stage 0 carcinoma of the breast|carcinoma in situ of the breast|breast cancer in situ|non-infiltrating carcinoma of breast|non-invasive carcinoma of the breast|breast in situ carcinoma|stage 0 breast cancer|non-invasive breast carcinoma|non-invasive carcinoma of breast|stage 0 breast cancer aJCC v6|non-infiltrating carcinoma of the breast|stage 0 breast cancer aJCC v6 and v7|stage 0 breast carcinoma in situ|stage 0 breast cancer aJCC v7|breast carcinoma in situ|carcinoma in situ of breast|in situ breast cancer ICD10:D05|ICD10:D05.9|SCTID:189336000|ICD9:233.0|UMLS:C0154084|DOID:8791|NCIT:C3641 owl:Class MONDO:0012529 biolink:NamedThing Diamond-Blackfan anemia 3 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. tmpak2llvmy_mondo_relaxed.owl DBA3|Diamond-Blackfan anemia 3|Diamond-Blackfan anemia caused by mutation in RPS24|Diamond-Blackfan Anemia type 3|RPS24 Diamond-Blackfan anemia|anemia Diamond-Blackfan 3 OMIM:610629|MESH:C536355|UMLS:C1857719|GARD:0010241 https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3 owl:Class MONDO:0002853 biolink:NamedThing rectum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of the rectum|rhabdomyosarcoma (disease) of rectum|rectum rhabdomyosarcoma (disease)|rectal rhabdomyosarcoma|rhabdomyosarcoma of rectum DOID:4053|UMLS:C1335687|NCIT:C5627 owl:Class MONDO:0002168 biolink:NamedThing rectum sarcoma A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the rectum|rectum sarcoma|sarcoma of rectum|rectal sarcoma NCIT:C5548|DOID:1995|UMLS:C1335688 owl:Class MONDO:0000733 biolink:NamedThing cornea plana tmpak2llvmy_mondo_relaxed.owl flat cornea ICD10:Q13.4|OMIMPS:121400|HP:0007720|SCTID:204145006|DOID:0060287 owl:Class MONDO:0019854 biolink:NamedThing thyroid ectopia Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl ICD10:E03.1|Orphanet:95712 owl:Class GO:2000845 biolink:NamedThing positive regulation of testosterone secretion Any process that activates or increases the frequency, rate or extent of testosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032370 biolink:NamedThing positive regulation of lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl stimulation of lipid transport|activation of lipid transport|up regulation of lipid transport|upregulation of lipid transport|up-regulation of lipid transport owl:Class MONDO:0006353 biolink:NamedThing paranasal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. tmpak2llvmy_mondo_relaxed.owl accessory sinus Schneiderian papilloma|paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the accessory sinus|Schneiderian papilloma of accessory sinus|Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus EFO:1000455|NCIT:C6835|UMLS:C1335343 owl:Class MONDO:0010233 biolink:NamedThing heterotopia, periventricular, X-linked dominant tmpak2llvmy_mondo_relaxed.owl heterotopia, periventricular, Ehlers-Danlos variant|BPNH|PVNH1|heterotopia, periventricular, X-linked dominant|nodular heterotopia bilateral periventricular|periventricular nodular heterotopia 1|bilateral periventricular nodular heterotopia|heterotopia periventricular X-linked dominant|X-linked periventricular heterotopia|heterotopia, familial nodular|heterotopia familial nodular|periventricular nodular heterotopia 4|NHBP|nodular heterotopia, bilateral periventricular|periventricular nodular heterotopia 4, formerly|heterotopia, periventricular nodular, with Frontometaphyseal dysplasia ICD9:742.4|SCTID:448227009|GARD:0007371|OMIM:300049 owl:Class MONDO:0010536 biolink:NamedThing tubulin, beta tmpak2llvmy_mondo_relaxed.owl tubulin, beta OMIM:301850 owl:Class MONDO:0009044 biolink:NamedThing Crigler-Najjar syndrome Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. tmpak2llvmy_mondo_relaxed.owl Crigler-Najjar syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency|Crigler Najjar syndrome|UGT deficiency|bilirubin-UGT deficiency|bilirubin UDP glucuronyl transferase deficiency|hereditary unconjugated hyperbilirubinemia ICD10:E80.5|MedDRA:10011386|SCTID:28259009|UMLS:CN119421|Orphanet:205|DOID:3803|NCIT:C84656|UMLS:C0010324|MESH:D003414 owl:Class MONDO:0004410 biolink:NamedThing sarcomatoid penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. tmpak2llvmy_mondo_relaxed.owl sarcomatous carcinoma of the penis|spindle cell carcinoma of the penis|squamous cell carcinoma of the penis, sarcomatoid type|sarcomatoid penile carcinoma|sarcomatoid penile squamous cell carcinoma|squamous cell carcinoma of penis, sarcomatoid type|sarcomatoid carcinoma of the penis DOID:7958|NCIT:C6984|UMLS:C1335923 owl:Class MONDO:0018352 biolink:NamedThing squamous cell carcinoma of penis A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004) tmpak2llvmy_mondo_relaxed.owl penile epidermoid carcinoma|squamous cell carcinoma of penis|penile epidermoid cell carcinoma|penile squamous carcinoma (epidermoid)|PSCC|penile squamous cell carcinoma|squamous cell carcinoma of the penis|epidermoid cell carcinoma of the penis|penile squamous cell cancer|penis squamous cell carcinoma|penile squamous car.(epidermoid)|epidermoid carcinoma of penis|epidermoid cell carcinoma of penis|epidermoid carcinoma of the penis ICD10:C60.9|DOID:5518|Orphanet:398058|ICD10:C60.1|ICD10:C60.2|NCIT:C7729|ICD10:C60.0|SCTID:403468003|ICD10:C60.8|ONCOTREE:PSCC|UMLS:C0238348 owl:Class MONDO:0017842 biolink:NamedThing Senior-Loken syndrome Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. tmpak2llvmy_mondo_relaxed.owl renal-retinal syndrome|Loken Senior syndrome|SLSN|nephronophthisis with retinal dystrophy|Senior Loken syndrome|renal dysplasia retinal aplasia|renal dysplasia-retinal aplasia syndrome ICD10:Q61.5|MESH:C537580|OMIMPS:266900|DOID:0050576|UMLS:CN117960|GARD:0000322|Orphanet:3156 owl:Class MONDO:0005881 biolink:NamedThing oligohydramnios A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. tmpak2llvmy_mondo_relaxed.owl oligohydramnios - delivered|oligohydramnios (disease)|delivered oligohydramnios|oligohydramnios|antepartum oligohydramnios oligohydramnios (disease) ICD10:O41.00|MESH:D016104|HP:0001562|ICD10:O41.0|EFO:0007401|ICD9:658.00|ICD9:658.0|SCTID:59566000|DOID:12215 Consider obsoleting as represents a finding owl:Class MONDO:0005917 biolink:NamedThing placenta disease A disease involving the placenta. tmpak2llvmy_mondo_relaxed.owl disorders, placenta|disease of placenta|placenta diseases|disorder, placenta|placenta disease|diseases, placental|placental diseases|placenta disorder|disease or disorder of placenta|placenta disorders|diseases, placenta|placental disease|disorder of placenta|disease, placental|disease, placenta|placental disorder|placenta disease or disorder ICD9:656.70|ICD10:O43.9|EFO:0007441|NCIT:C26857|ICD9:646.9|MESH:D010922|ICD10:O43.90|SCTID:125586008|GARD:0007402|ICD10:O43|DOID:780 owl:Class GO:1905277 biolink:NamedThing negative regulation of epithelial tube formation Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. tmpak2llvmy_mondo_relaxed.owl down regulation of epithelial tube formation|downregulation of epithelial tube formation|inhibition of epithelial tube formation|down-regulation of epithelial tube formation owl:Class NCBITaxon:28844 biolink:NamedThing Diphyllobothrium tmpak2llvmy_mondo_relaxed.owl broad tapeworms|fish tapeworms|broad tapeworm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:28843 biolink:NamedThing Diphyllobothriidae tmpak2llvmy_mondo_relaxed.owl Ligulidae GC_ID:1 NCBITaxon:94843|NCBITaxon:1256674 ncbi_taxonomy owl:Class MONDO:0010578 biolink:NamedThing deafness dystonia syndrome Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. tmpak2llvmy_mondo_relaxed.owl deafness-dystonia-optic neuronopathy (DDON) syndrome|deafness dystonia optic neuronopathy syndrome|deafness dystonia optic neuronopathy syndrome (DDON)|DDON syndrome|MTS|deafness dystonia optic atrophy syndrome|dystonia deafness syndrome|dystonia-deafness syndrome|DDP|deafness-Dystonia-optic atrophy syndrome|MOHR-Tranebjaerg syndrome|deafness-dystonia-optic neuronopathy syndrome|deafness - dystonia - optic neuronopathy syndrome|deafness dystonia syndrome|Mohr-Tranebjaerg syndrome|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency GARD:0008331|ICD9:759.89|UMLS:C0796074|SCTID:702423009|ICD10:G31.8|Orphanet:52368|MESH:C535808|OMIM:304700|DOID:0050757 owl:Class MONDO:0016802 biolink:NamedThing mitochondrial protein import disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:254834|UMLS:CN227003 owl:Class UBERON:0000460 biolink:NamedThing major vestibular gland the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males tmpak2llvmy_mondo_relaxed.owl greater vestibular glands of Bartholin|vulvovaginal gland|Bartholin's gland|glandula vestibularis major|greater vestibular gland|Bartholin gland|Tiedemann's gland|Duverney's gland owl:Class UBERON:0014717 biolink:NamedThing mucous acinus The secretory unit of a mucous gland. The acinar portion is composed of mucous secreting cells. tmpak2llvmy_mondo_relaxed.owl acinus of mucuous gland|mucus acinus owl:Class UBERON:0009842 biolink:NamedThing glandular acinus The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. tmpak2llvmy_mondo_relaxed.owl acinus|acini owl:Class MONDO:0014689 biolink:NamedThing Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism|KFS4|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism UMLS:C4225285|DOID:0080592|ICD10:Q76.1|OMIM:616549|Orphanet:447974 owl:Class MONDO:0001029 biolink:NamedThing Klippel-Feil syndrome A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. tmpak2llvmy_mondo_relaxed.owl Klippel-Feil and Turner syndrome|autosomal dominant Klippel-Feil syndrome|Klippel-Feil deformity, deafness and facial asymmetry|cervical vertebral fusion|congenital dystrophia brevicollis|congenital synostosis of cervical vertebrae|Klippel Feil syndrome|Klippel-Feil Sequence SCTID:5601008|NCIT:C98967|OMIMPS:118100|MESH:D007714|ICD10:Q76.1|GARD:0010280|DOID:10426|ICD9:756.16 Usage notes: this class includes both isolated forms and forms that are features of other syndromes https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome owl:Class MONDO:0002712 biolink:NamedThing epidural spinal canal angiolipoma An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. tmpak2llvmy_mondo_relaxed.owl angiolipoma of the extradural spinal canal|angiolipoma of the epidural spinal canal|angiolipoma of extradural spinal canal|epidural space angiolipoma|angiolipoma of epidural space|angiolipoma of epidural spinal canal|extradural spinal canal angiolipoma DOID:3617|NCIT:C5424|UMLS:C1333416 owl:Class MONDO:0002713 biolink:NamedThing epidural spinal canal neoplasm A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. tmpak2llvmy_mondo_relaxed.owl neoplasm of extradural spinal canal|tumor of epidural spinal canal|epidural spinal neoplasms|extradural tumor|tumor of extradural spinal canal|extradural spinal canal neoplasms|extradural neoplasm|extradural spinal canal tumor|extradural spinal tumors|neoplasm of epidural space|epidural space neoplasm|tumor of the extradural spinal canal|epidural space tumor|neoplasm of the epidural spinal canal|tumor of epidural space|tumor of the epidural spinal canal|epidural spinal canal neoplasm|extradural spinal canal neoplasm|epidural spinal canal tumor|epidural spinal tumors|neoplasm of the extradural spinal canal|epidural neoplasm|epidural spinal canal tumors|extradural spinal neoplasms|neoplasm of epidural spinal canal|epidural tumor DOID:3618|NCIT:C3019|EFO:1000923|MESH:D015174|UMLS:C0014536 owl:Class MONDO:0014298 biolink:NamedThing chromosome 5q12 deletion syndrome PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. tmpak2llvmy_mondo_relaxed.owl chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome Orphanet:439822|DOID:0060421|OMIM:615668|UMLS:C3810282 owl:Class MONDO:0008983 biolink:NamedThing chromosomal instability with tissue-specific radiosensitivity tmpak2llvmy_mondo_relaxed.owl chromosomal instability with tissue-specific radiosensitivity OMIM:215510|MESH:C565848 owl:Class UBERON:0005298 biolink:NamedThing skin of clitoris A zone of skin that is part of a clitoris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl clitoris skin owl:Class HGNC:2956 biolink:NamedThing DNASE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014096 biolink:NamedThing microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). tmpak2llvmy_mondo_relaxed.owl WOODS syndrome|Woods-Crouchman-Huson syndrome UMLS:C0796203|OMIM:615236|Orphanet:137658|ICD10:Q87.8|GARD:0003498|SCTID:719396000 https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome owl:Class UBERON:0011973 biolink:NamedThing epiphysis of phalanx of pes An epiphysis that is part of a phalanx of a pes [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiphysis of phalanx of toe owl:Class HGNC:1502 biolink:NamedThing CASP14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001552 biolink:NamedThing dyscalculia A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. tmpak2llvmy_mondo_relaxed.owl dyscalculia (disease)|mathematics disorder|disorder of arithmetical skills|dyscalculia dyscalculia (disease) NCIT:C97165|MESH:D060705|HP:0002442|ICD9:315.1|SCTID:47916000|DOID:12568 owl:Class MONDO:0004681 biolink:NamedThing learning disability A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. tmpak2llvmy_mondo_relaxed.owl learning disorder|Academic skill disorder UMLS:CN229495|ICD9:315.2|MESH:D007859|DOID:8927|SCTID:1855002|ICD10:F81.9|NCIT:C89334 owl:Class MONDO:0019890 biolink:NamedThing non-distal trisomy 9q Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. tmpak2llvmy_mondo_relaxed.owl non-distal duplication 9q|non-distal trisomy type 9q|non-telomeric trisomy 9q Orphanet:96112|SCTID:764997000|ICD10:Q92.3 owl:Class MONDO:0004116 biolink:NamedThing esophageal small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl Oat cell carcinoma of the esophagus|Oat cell carcinoma of esophagus|small cell carcinoma of esophagus|small cell carcinoma of the esophagus|esophageal small cell neuroendocrine carcinoma|esophageal small cell carcinoma|esophagus small cell carcinoma|small cell carcinoma, esophagus|esophagus Oat cell carcinoma|esophageal Oat cell carcinoma|esophageal small cell NEC DOID:7134|NCIT:C6762|UMLS:C1112474 owl:Class NCBITaxon:6033 biolink:NamedThing Encephalitozoon tmpak2llvmy_mondo_relaxed.owl Septata GC_ID:1 NCBITaxon:27985 ncbi_taxonomy owl:Class NCBITaxon:36734 biolink:NamedThing Unikaryonidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010907 biolink:NamedThing positive regulation of glucose metabolic process Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpak2llvmy_mondo_relaxed.owl positive regulation of glucose metabolism owl:Class GO:0009250 biolink:NamedThing glucan biosynthetic process The chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpak2llvmy_mondo_relaxed.owl glucan anabolism|glucan formation|glucan synthesis|glucan biosynthesis owl:Class GO:0033692 biolink:NamedThing cellular polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl cellular polysaccharide formation|cellular glycan biosynthesis|cellular glycan biosynthetic process|cellular polysaccharide anabolism|cellular polysaccharide biosynthesis|cellular polysaccharide synthesis owl:Class ECTO:0010000 biolink:NamedThing exposure to environmental quality A exposure event involving the interaction of an exposure receptor to quality. tmpak2llvmy_mondo_relaxed.owl quality exposure owl:Class MONDO:0040502 biolink:NamedThing glucocorticoid deficiency 5 tmpak2llvmy_mondo_relaxed.owl GCCD5|glucocorticoid deficiency 5 OMIM:617825 owl:Class MONDO:0008733 biolink:NamedThing familial glucocorticoid deficiency Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. tmpak2llvmy_mondo_relaxed.owl GCCD|glucocorticoid deficiency MESH:C565974|SCTID:765326001|NCIT:C120446|Orphanet:361|OMIMPS:202200|ICD10:E27.1|UMLS:CN204661|GARD:0002498|DOID:0080620 https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency owl:Class UBERON:0026386 biolink:NamedThing lumbar spinal cord white matter tmpak2llvmy_mondo_relaxed.owl lumbar spinal cord white matter owl:Class UBERON:0002316 biolink:NamedThing white matter Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. tmpak2llvmy_mondo_relaxed.owl CNS tracts and commissures|CNS white matter|neuronal white matter|substantia alba|CNS tract/commissure|white mater|white substance|white matter of neuraxis owl:Class MONDO:0006417 biolink:NamedThing small intestinal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestinal diffuse large B-cell lymphoma|small intestine diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine NCIT:C96055|UMLS:C3272522|EFO:1000534 owl:Class CHEBI:139588 biolink:NamedThing alpha-hydroxy ketone An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. tmpak2llvmy_mondo_relaxed.owl alpha-hydroxy-ketone|alpha-hydroxy-ketones|alpha-hydroxyketone|alpha-hydroxy ketones|alpha-hydroxyketones owl:Class MONDO:0021758 biolink:NamedThing acquired agranulocytosis Agranulocytosis that is autoimmune in origin. tmpak2llvmy_mondo_relaxed.owl agranulocytosis, acquired|granulocytopenia, primary|agranulocytic angina|neutropenia, malignant MESH:C538171|GARD:0005717|SCTID:72050006 https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis owl:Class MONDO:0001609 biolink:NamedThing agranulocytosis A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl Granulopenia|Granulocytopenic disorder|granulocytopenia MESH:D000380|DOID:12987|NCIT:C2863|GARD:0006545|UMLS:C0001824|ICD9:288.8|ICD10:D70|SCTID:417672002 owl:Class GO:0002688 biolink:NamedThing regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. tmpak2llvmy_mondo_relaxed.owl regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis owl:Class GO:0002685 biolink:NamedThing regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte migration. tmpak2llvmy_mondo_relaxed.owl regulation of leucocyte migration|regulation of immune cell migration owl:Class MONDO:0012784 biolink:NamedThing autosomal recessive ataxia due to ubiquinone deficiency This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. tmpak2llvmy_mondo_relaxed.owl SCAR9|autosomal recessive spinocerebellar ataxia 9|COQ10D4|coenzyme Q10 deficiency, primary, 4|ARCA2|autosomal recessive cerebellar ataxia type 2|coenzyme Q10 deficiency, primary, type 4|spinocerebellar ataxia, autosomal recessive 9|autosomal recessive ataxia due to coenzyme Q10 deficiency|autosomal recessive spinocerebellar ataxia type 9 Orphanet:139485|DOID:0070241|ICD10:G11.1|OMIM:612016|UMLS:C2677589|SCTID:725394006|UMLS:C4511089|MESH:C567436|GARD:0010294 owl:Class MONDO:0018151 biolink:NamedThing coenzyme Q10 deficiency A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. tmpak2llvmy_mondo_relaxed.owl CoQ10 deficiency, primary|CoQ10 deficiency|coenzyme Q10 deficiency disease|coenzyme Q10 deficiency, primary SCTID:724575009|OMIMPS:607426|MESH:C564403|NCIT:C142083|Orphanet:35656|DOID:0050730|GARD:0010423|UMLS:C1843920|UMLS:CN229570 https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency owl:Class GO:0033013 biolink:NamedThing tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpak2llvmy_mondo_relaxed.owl tetrapyrrole metabolism owl:Class UBERON:0000002 biolink:NamedThing uterine cervix Lower, narrow portion of the uterus where it joins with the top end of the vagina. tmpak2llvmy_mondo_relaxed.owl cervical canal of uterus|neck of uterus|cervix uteri|caudal segment of uterus|cervical canal|cervix of uterus|uterine cervix|cervix|canalis cervicis uteri owl:Class UBERON:0001560 biolink:NamedThing neck of organ tmpak2llvmy_mondo_relaxed.owl organ neck owl:Class NCIT:C15497 biolink:NamedThing Progesterone Receptor Negative tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C16149 biolink:NamedThing Progesterone Receptor Status tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010273 biolink:NamedThing lymphoma, Hodgkin, X-linked pseudoautosomal tmpak2llvmy_mondo_relaxed.owl Hodgkin disease, X-linked Pseudoautosomal|lymphoma, Hodgkin, X-linked pseudoautosomal OMIM:300221|GARD:0009899|MESH:C538326 owl:Class MONDO:0004952 biolink:NamedThing Hodgkins lymphoma Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. tmpak2llvmy_mondo_relaxed.owl Hodgkin's disease|stage I subdiaphragmatic Hodgkin lymphoma|HL|Hodgkin's sarcoma|stage II subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|lymphoma, Hodgkin's|Hodgkin disease|Hodgkins lymphoma|Hodgkin lymphoma ICD10:C81.9|ICD9:201.0|ICDO:9650/3|MESH:D006689|ICD9:201.2|EFO:0000183|ICD9:201.1|ICD9:201.9|GARD:0002714|NCIT:C9357|ICD10:C81|DOID:8567|Orphanet:98293|ICD9:201.90|ICD9:201|ONCOTREE:HL owl:Class MONDO:0015988 biolink:NamedThing multicystic dysplastic kidney Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. tmpak2llvmy_mondo_relaxed.owl multicystic renal dysplasia|MCDK UMLS:C3714581|NCIT:C123031|ICD10:Q61.4|Orphanet:1851|SCTID:204962002|MESH:D021782|ICD9:753.19 owl:Class MONDO:0002473 biolink:NamedThing cystic kidney disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. tmpak2llvmy_mondo_relaxed.owl kidney cyst|renal cyst|cystic renal disease ICD10:Q61|NCIT:C34750|DOID:2975|UMLS:C0022679|SCTID:722223000|MESH:D052177 owl:Class UBERON:0000010 biolink:NamedThing peripheral nervous system A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. tmpak2llvmy_mondo_relaxed.owl systema nervosum periphericum|pars peripherica|PNS owl:Class UBERON:0010852 biolink:NamedThing fibula pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a fibula. tmpak2llvmy_mondo_relaxed.owl fibular pre-cartilage condensation|fibulal pre-cartilage condensation owl:Class UBERON:0015013 biolink:NamedThing fibula endochondral element The major postaxial endochondral element in the posterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl fibula element|fibula skeletal element owl:Class MONDO:0015541 biolink:NamedThing genetic hemophagocytic lymphohistiocytosis Genetic hemophagocytic lymphohistiocytosis. tmpak2llvmy_mondo_relaxed.owl genetic hemophagocytic lymphohistiocytosis|genetic hemophagocytic syndrome|primary hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis Orphanet:540|ICD9:238.79|MedDRA:10070904|OMIMPS:267700|SCTID:398250003 owl:Class MONDO:0016027 biolink:NamedThing benign neonatal seizures A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. tmpak2llvmy_mondo_relaxed.owl benign familial neonatal seizures|BFNS|benign familal neonatal seizures|seizures, benign familial neonatal|benign familial convulsion|benign familial convulsions|benign neonatal convulsions|benign familial neonatal convulsions OMIMPS:121200|Orphanet:1949|MedDRA:10067866|DOID:14264|ICD10:G40.3|SCTID:38281008|NCIT:C117307 owl:Class CHEBI:24431 biolink:NamedThing chemical entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. tmpak2llvmy_mondo_relaxed.owl chemical entity owl:Class BFO:0000030 biolink:NamedThing object tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011986 biolink:NamedThing tropical pancreatitis Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. tmpak2llvmy_mondo_relaxed.owl TCP|tropical calcific pancreatitis|tropical calcific chronic pancreatitis SCTID:724540009|MESH:C564276|OMIM:608189|ICD10:K86.1|Orphanet:103918|UMLS:C1842402|UMLS:C4510860 owl:Class MONDO:0008185 biolink:NamedThing hereditary chronic pancreatitis Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreatitis, chronic|pancreatitis, chronic, protection against, included|pancreatitis, calcific, included|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|pancreatitis, hereditary|Hp|familial pancreatitis|hereditary pancreatitis|pancreatitis, calcific|hereditary chronic pancreatitis|HPC|pancreatitis, chronic, susceptibility to|pancreatitis, chronic, protection against|autosomal dominant hereditary pancreatitis|PCTT ICD9:577.8|NCIT:C95436|ICD10:K86.1|MESH:C537262|SCTID:68072000|GARD:0006632|OMIM:167800|Orphanet:676 https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis owl:Class UBERON:0013280 biolink:NamedThing diaphysis of tibia A diaphysis that is part of a tibia. tmpak2llvmy_mondo_relaxed.owl body of tibia|corpus tibiae|body of the tibia|shaft of tibia|tibial diaphysis owl:Class UBERON:0004769 biolink:NamedThing diaphysis Subdivision of long bone which forms the part of the bone between the two epiphyses, excluding the metaphyses[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl long bone diaphysis|shaft of long bone|body of long bone owl:Class HGNC:3668 biolink:NamedThing FGF12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000859 biolink:NamedThing spina bifida occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. tmpak2llvmy_mondo_relaxed.owl spina bifida occulta|spina bifida occulta (disease) spina bifida occulta (disease) SCTID:76916001|NCIT:C101044|HP:0003298|MESH:D016136|ICD9:756.17|DOID:0080073 owl:Class MONDO:0000957 biolink:NamedThing lacrimal passage granuloma tmpak2llvmy_mondo_relaxed.owl granuloma of lacrimal passages SCTID:417563003|UMLS:C0155253|ICD10:H04.81|DOID:10174|ICD9:375.81 owl:Class UBERON:0009880 biolink:NamedThing carpal skeleton Subdivision of skeleton that consists of the endochondral elements distal to the anterior limb/fin zeugopodial skeletal elements which constitute the proximal region of the anterior autopod skeleton[PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl skeletal parts of fore mesopodium|skeleton of carpus|fore mesopodium|ossa carpi|carpal bones|set of carpal bones|fore mesopodium skeleton|fore mesopodial skeleton|carpus|carpal bones set owl:Class UBERON:0009878 biolink:NamedThing mesopodial skeleton The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton tmpak2llvmy_mondo_relaxed.owl mesopodial skeleton|mesopodium skeleton|mesopodium|basipodium skeleton|basipodium|skeletal parts of mesopodium|carpal/tarsal skeleton owl:Class MONDO:0009032 biolink:NamedThing cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). tmpak2llvmy_mondo_relaxed.owl Levin syndrome|Sensenbrenner syndrome|CED|cranioectodermal dysplasia UMLS:CN016627|UMLS:CN119432|NCIT:C129305|SCTID:254093009|OMIMPS:218330|GARD:0000359|UMLS:C0432235|Orphanet:1515|ICD10:Q87.5|ICD9:756.9|DOID:0050577 owl:Class GO:0009068 biolink:NamedThing aspartate family amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpak2llvmy_mondo_relaxed.owl aspartate family amino acid catabolism|aspartate family amino acid degradation|aspartate family amino acid breakdown owl:Class GO:1901606 biolink:NamedThing alpha-amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. tmpak2llvmy_mondo_relaxed.owl alpha-amino acid degradation|alpha-amino acid breakdown|alpha-amino acid catabolism owl:Class MONDO:0009759 biolink:NamedThing mosaic variegated aneuploidy syndrome 1 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. tmpak2llvmy_mondo_relaxed.owl MVA1|Mosaic variegated aneuploidy syndrome type 1|MOSAIC variegated aneuploidy syndrome 1|BUB1B mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|mosaic variegated aneuploidy syndrome type 1|mosaic variegated aneuploidy syndrome 1|MVA syndrome UMLS:CN031748|DOID:0080141|OMIM:257300 owl:Class MONDO:0000141 biolink:NamedThing mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. tmpak2llvmy_mondo_relaxed.owl MVA1|Mosaic variegated aneuploidy syndrome 1|Warburton-Anyane-Yeboa syndrome ICD9:758.89|NCIT:C128192|MESH:C536987|UMLS:C1850343|Orphanet:1052|SCTID:700056005|OMIMPS:257300|GARD:0003007|ICD10:Q99.8 owl:Class MONDO:0013323 biolink:NamedThing cranioectodermal dysplasia 2 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. tmpak2llvmy_mondo_relaxed.owl CED2|Cranioectodermal dysplasia type 2|WDR35 cranioectodermal dysplasia|CRANIOECTODERMAL dysplasia 2|cranioectodermal dysplasia 2|cranioectodermal dysplasia caused by mutation in WDR35 OMIM:613610|UMLS:C3150874 owl:Class MONDO:0021805 biolink:NamedThing acromesomelic dysplasia, Campailla Martinelli type tmpak2llvmy_mondo_relaxed.owl mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type GARD:0000505|UMLS:C2930969|MESH:C535659 https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type owl:Class UBERON:0011374 biolink:NamedThing prepuce A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:46723 biolink:NamedThing phosphate mineral tmpak2llvmy_mondo_relaxed.owl phosphate minerals owl:Class GO:0046890 biolink:NamedThing regulation of lipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpak2llvmy_mondo_relaxed.owl regulation of lipid synthesis|regulation of lipid biosynthesis|regulation of lipogenesis|regulation of lipid formation|regulation of lipid anabolism owl:Class MONDO:0016700 biolink:NamedThing anaplastic ependymoma Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. tmpak2llvmy_mondo_relaxed.owl high-grade ependymoma|malignant ependymoma|WHO grade III ependymal tumor|anaplastic ependymal neoplasm|undifferentiated ependymoma|ependymoma, anaplastic, malignant|anaplastic ependymoma|WHO grade III ependymal neoplasm|undifferentiated ependymal neoplasm|undifferentiated ependymal tumor|anaplastic ependymal tumor GARD:0010634|ICDO:9392/3|MedDRA:10014968|UMLS:C0280788|ICD10:C71.9|NCIT:C4049|Orphanet:251646|ONCOTREE:APE https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma owl:Class MONDO:0021640 biolink:NamedThing grade III glioma A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. tmpak2llvmy_mondo_relaxed.owl anaplastic glioma|WHO grade III glioma UMLS:C4287997|NCIT:C127816 owl:Class CHEBI:38313 biolink:NamedThing diazines Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003841 biolink:NamedThing heart lipoma A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. tmpak2llvmy_mondo_relaxed.owl Cardiac lipoma|lipoma of heart|heart lipoma|lipoma of the heart DOID:6285|NCIT:C6741|UMLS:C1332849 owl:Class MONDO:0007017 biolink:NamedThing vitreous detachment Detachment of the vitreous humor from the retina. tmpak2llvmy_mondo_relaxed.owl detachment Of vitreous|vitreous, detachment Of DOID:9726|UMLS:C0042907|ICD10:H43.81|MESH:D020255|SCTID:53772007|EFO:1001238|MedDRA:10047650|NCIT:C50807 owl:Class MONDO:0020246 biolink:NamedThing inherited vitreoretinopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:98668|HP:0007773|UMLS:C1850109 owl:Class HGNC:1321 biolink:NamedThing TIMMDC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001076 biolink:NamedThing glucose intolerance The inability to regulate blood glucose levels resulting in hyperglycemia. tmpak2llvmy_mondo_relaxed.owl glucose: malabsorption|malabsorption of glucose|glucose: intolerance|glucose: [intolerance] or [malabsorption] ICD9:271.3|DOID:10603|ICD10:R73.09|NCIT:C34646|SCTID:267426009|UMLS:C0271650|MESH:D018149 owl:Class MONDO:0011731 biolink:NamedThing glucose-galactose malabsorption Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. tmpak2llvmy_mondo_relaxed.owl SGLT1 deficiency|carbohydrate intolerance of glucose galactose|glucose-galactose malabsorption|glucose galactose malabsorption deficiency|monosaccharide malabsorption|Complex carbohydrate intolerance|glucose/galactose malabsorption|GGM Orphanet:35710|ICD10:E74.3|GARD:0006521|MedDRA:10066388|SCTID:190749000|OMIM:606824|MESH:C562602|ICD9:271.3 https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption owl:Class UBERON:0007128 biolink:NamedThing glomeral mesenchyme Portion of tissue that consists of the precursors of the pronephric glomus or glomerulus; derived from the medial portion of the pronephric intermediate mesoderm. tmpak2llvmy_mondo_relaxed.owl corpuscle|glomerulus owl:Class MONDO:0000104 biolink:NamedThing anemia, hypochromic microcytic with iron overload tmpak2llvmy_mondo_relaxed.owl anemia, hypochromic microcytic, with iron overload MESH:C567144|OMIMPS:206100|UMLS:C2673913 owl:Class HGNC:28769 biolink:NamedThing DRAM2 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q biolink:NamedThing chr9q (Human) tmpak2llvmy_mondo_relaxed.owl 138394717 43000000 hg38 owl:Class MONDO:0002598 biolink:NamedThing germinoma A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. tmpak2llvmy_mondo_relaxed.owl germinoma|germinoma (disease) germinoma (disease) HP:0100620|NCIT:C3753|UMLS:C0206660|DOID:3304|ICDO:9064/3|ONCOTREE:GMN|MESH:D018237 owl:Class MONDO:0020580 biolink:NamedThing germinomatous germ cell tumor A term that refers to germinoma, seminoma, or dysgerminoma. tmpak2llvmy_mondo_relaxed.owl germinomatous germ cell tumor NCIT:C121618|UMLS:C4054897 owl:Class MONDO:0011075 biolink:NamedThing retinitis pigmentosa 18 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. tmpak2llvmy_mondo_relaxed.owl RP 18|retinitis pigmentosa type 18|retinitis pigmentosa caused by mutation in PRPF3|PRPF3 retinitis pigmentosa|retinitis pigmentosa 18|RP18 MESH:C563320|UMLS:C1832378|OMIM:601414|GARD:0010392|ICD10:H35.5|DOID:0110356 https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18 owl:Class MONDO:0006276 biolink:NamedThing lung inflammatory myofibroblastic tumor An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpak2llvmy_mondo_relaxed.owl lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor NCIT:C39740|ONCOTREE:IMTL|ICDO:8827/1|EFO:1000333|UMLS:C1518038 owl:Class MONDO:0004339 biolink:NamedThing tuberculum sellae meningioma A meningioma that affects the tuberculum sellae. tmpak2llvmy_mondo_relaxed.owl meningioma of tuberculum sellae|meningioma of the tuberculum sellae|tuberculum sellae sella turcica neoplasm|sella turcica neoplasm of tuberculum sellae UMLS:C1336829|NCIT:C5284|DOID:7713 owl:Class MONDO:0020690 biolink:NamedThing adult glioblastoma tmpak2llvmy_mondo_relaxed.owl grade IV adult astrocytic tumor|grade IV adult astrocytic neoplasm|glioblastoma|adult glioblastoma multiforme|adult glioblastoma NCIT:C9094 owl:Class GO:2000253 biolink:NamedThing positive regulation of feeding behavior Any process that activates or increases the frequency, rate or extent of feeding behavior. tmpak2llvmy_mondo_relaxed.owl positive regulation of behavioural response to food|positive regulation of feeding behaviour|positive regulation of behavioral response to food|positive regulation of eating|positive regulation of drinking owl:Class GO:0048520 biolink:NamedThing positive regulation of behavior Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpak2llvmy_mondo_relaxed.owl activation of behavior|upregulation of behavior|up-regulation of behavior|stimulation of behavior|up regulation of behavior owl:Class MONDO:0100309 biolink:NamedThing hereditary ataxia An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. tmpak2llvmy_mondo_relaxed.owl rare hereditary ataxia|SCA MESH:C531684|GARD:0010748|DOID:0050951|Orphanet:183518|ICD10:G11|SCTID:763597000|GARD:0006614 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia owl:Class GO:0019752 biolink:NamedThing carboxylic acid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl carboxylic acid metabolism owl:Class GO:0043436 biolink:NamedThing oxoacid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpak2llvmy_mondo_relaxed.owl oxoacid metabolism|keto acid metabolic process|oxo acid metabolic process|ketoacid metabolic process|ketoacid metabolism|oxo acid metabolism|keto acid metabolism owl:Class HP:0010535 biolink:NamedThing Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. tmpak2llvmy_mondo_relaxed.owl Sleep apnoea|Pauses in breathing while sleeping UMLS:C0037315|SNOMEDCT_US:73430006|MSH:D012891 peter 2009-09-21T08:53:35Z human_phenotype owl:Class HP:0002360 biolink:NamedThing Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. tmpak2llvmy_mondo_relaxed.owl Sleep disturbances|Trouble sleeping|Difficulty sleeping|Sleep dysfunction SNOMEDCT_US:53888004|UMLS:C0037317 human_phenotype owl:Class MONDO:0004517 biolink:NamedThing ureter tuberculosis A tuberculosis that involves the ureter. tmpak2llvmy_mondo_relaxed.owl ureter tuberculosis|tuberculosis of ureter ICD9:016.2|ICD9:016.20|DOID:827|SCTID:81359005|UMLS:C0152800 owl:Class MONDO:0005247 biolink:NamedThing bacterial urinary tract infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. tmpak2llvmy_mondo_relaxed.owl urinary tract infection (disease)|urinary tract infectious disease|bacterial urinary tract infection (disease)|urinary tract infection|tract, infection Of urinary|infection, urinary tract|UTI bacterial urinary tract infection (disease) EFO:0003103|NCIT:C50791|SCTID:68566005|ICD9:599.0 owl:Class MONDO:0011316 biolink:NamedThing osteosclerotic chondrodysplasia, lethal, with intracellular inclusions tmpak2llvmy_mondo_relaxed.owl osteosclerotic chondrodysplasia, lethal, with intracellular inclusions MESH:C566378|OMIM:603393|UMLS:C1863920 owl:Class MONDO:0024246 biolink:NamedThing syringofibroadenoma A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma. tmpak2llvmy_mondo_relaxed.owl eccrine syringofibroadenoma|acrosyringeal nevus|syringofibroadenoma|eccrine syringofibroadenomatous hyperplasia|acrosyringeal adenomatosis|eccrine syringofibroadenoma of skin SCTID:403936002|ICDO:8392/0|UMLS:C0473578|UMLS:C1266060|NCIT:C43356|HP:0031018 owl:Class NCBITaxon:6760 biolink:NamedThing Scylla tmpak2llvmy_mondo_relaxed.owl mangrove crabs|mud crabs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6757 biolink:NamedThing Portunidae tmpak2llvmy_mondo_relaxed.owl swimming crabs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013251 biolink:NamedThing Birbeck granule deficiency tmpak2llvmy_mondo_relaxed.owl Birbeck granule deficiency|Birbeck granules, absence of OMIM:613393|UMLS:C3150657 owl:Class MONDO:0018875 biolink:NamedThing Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). tmpak2llvmy_mondo_relaxed.owl sarcoma family syndrome of Li and Fraumeni|sarcoma, breast, leukaemia and adrenal gland syndrome|Li-Fraumeni syndrome|Li-Fraumeni familial cancer susceptibility syndrome|Li-Fraumeni familiar cancer susceptibility syndrome|SBLA syndrome|Li Fraumeni syndrome|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland) MedDRA:10066795|SCTID:428850001|DOID:3012|ICD9:V84.01|ICD10:D48.9|OMIMPS:151623|GARD:0006902|Orphanet:524|NCIT:C3476|UMLS:C0085390|MESH:D016864 owl:Class MONDO:0010439 biolink:NamedThing cardiomyopathy, fatal fetal, due to myocardial calcification tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, fatal fetal, due to myocardial calcification|myocardial calcifications resulting in intrauterine fetal death MESH:C543241|GARD:0008311|UMLS:C1853577|OMIM:300829 https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification owl:Class MONDO:0016903 biolink:NamedThing partial deletion of the long arm of chromosome 4 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 4|chromosome 4q deletion|partial deletion of chromosome 4q|4q monosomy|partial deletion of the long arm of chromosome type 4|deletion 4q|4q deletion|partial monosomy 4q|monosomy 4q|partial monosomy of chromosome 4q ICD10:Q93.5|MESH:C537639|GARD:0001340|Orphanet:262029 owl:Class MONDO:0016869 biolink:NamedThing partial deletion of chromosome 4 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 4|partial monosomy of chromosome 4 Orphanet:261781 owl:Class IAO:8000010 biolink:NamedThing exclusion subset ontology module A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes. tmpak2llvmy_mondo_relaxed.owl antislim exclusion subset ontology module owl:Class IAO:8000006 biolink:NamedThing subset ontology module An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms. tmpak2llvmy_mondo_relaxed.owl ontology slim|subset ontology subset ontology module owl:Class GO:0046939 biolink:NamedThing nucleotide phosphorylation The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016310 biolink:NamedThing phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014669 biolink:NamedThing cone-rod dystrophy 21 Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene. tmpak2llvmy_mondo_relaxed.owl CORD21|retinal dystrophy with early macular involvement|cone-rod dystrophy 21|cone-rod dystrophy type 21|DRAM2 cone-rod dystrophy|cone-rod dystrophy caused by mutation in DRAM2 UMLS:CN231743|UMLS:C4049066|OMIM:616502 owl:Class MONDO:0004852 biolink:NamedThing gonococcal keratitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0153214|ICD10:A54.33|DOID:9697|ICD9:098.43|SCTID:40149008 owl:Class MONDO:0020302 biolink:NamedThing Angelman syndrome due to maternal 15q11q13 deletion tmpak2llvmy_mondo_relaxed.owl Angelman syndrome due to maternal monosomy 15q11q13 Orphanet:98794|ICD10:Q93.5|UMLS:CN207116 owl:Class MONDO:0007113 biolink:NamedThing Angelman syndrome Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. tmpak2llvmy_mondo_relaxed.owl Angelman syndrome|happy puppet syndrome, formerly|AS|happy puppet syndrome|puppetlike syndrome|Angelman syndrome chromosome region|happy puppet syndrome (formerly) Orphanet:72|MedDRA:10049004|ICD9:759.89|ICD10:Q93.51|OMIM:105830|UMLS:C0162635|SCTID:76880004|MESH:D017204|ICD10:Q93.5|MESH:C531619|GARD:0005810|DOID:1932|NCIT:C75462 https://github.com/monarch-initiative/mondo/issues/3941 owl:Class MONDO:0007768 biolink:NamedThing hyperparathyroidism 2 with jaw tumors An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. tmpak2llvmy_mondo_relaxed.owl hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism type 2|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hyperparathyroidism 2|hyperparathyroidism 2 with jaw tumors|hyperparathyroidism-jaw tumor syndrome, hereditary|parathyroid adenomatosis, familial cystic|HRPT2|hyperparathyroidism-2|HPT-JT|familial primary hyperparathyroidism with multiple ossifying jaw fibromas UMLS:C1704981|OMIM:145001|ICD10:E21.0|NCIT:C48287|SCTID:702378002|GARD:0010829|Orphanet:99880 https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome owl:Class MONDO:0017891 biolink:NamedThing inherited renal cancer-predisposing syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN203941|Orphanet:319328 owl:Class CHEBI:18154 biolink:NamedThing polysaccharide A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. tmpak2llvmy_mondo_relaxed.owl polisacarido|Glykane|Polysaccharide|glycans|polysaccharides|Glykan|Glycan|polisacaridos|Glycane owl:Class CHEBI:33694 biolink:NamedThing biomacromolecule A macromolecule formed by a living organism. tmpak2llvmy_mondo_relaxed.owl Biopolymere|biopolymer|biomacromolecules|biopolymers owl:Class GO:0051254 biolink:NamedThing positive regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpak2llvmy_mondo_relaxed.owl positive regulation of RNA metabolism|up regulation of RNA metabolic process|activation of RNA metabolic process|up-regulation of RNA metabolic process|stimulation of RNA metabolic process|upregulation of RNA metabolic process owl:Class GO:0051252 biolink:NamedThing regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpak2llvmy_mondo_relaxed.owl regulation of RNA metabolism owl:Class MONDO:0004051 biolink:NamedThing aleukemic monocytic leukemia cutis tmpak2llvmy_mondo_relaxed.owl aleukemic monocytic leukemia cutis UMLS:C1332232|DOID:6958|NCIT:C5630 owl:Class MONDO:0003729 biolink:NamedThing aleukemic leukemia cutis Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. tmpak2llvmy_mondo_relaxed.owl aleukemic leukemia cutis|leukemia subleukemic DOID:6003|NCIT:C4983|UMLS:C0887846|GARD:0006892 owl:Class MONDO:0002597 biolink:NamedThing notochordal tumor A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of notochord|notochordal neoplasm|notochord tumor|tumor of notochord|neoplasm of notochord|notochord cancer|notochordal cancer|cancer of notochord|notochord neoplasm|malignant notochord neoplasm|notochordal tumor DOID:3303|UMLS:C1335069|NCIT:C7063 owl:Class MONDO:0021481 biolink:NamedThing benign neoplasm of submandibular gland A benign neoplasm that involves the submandibular gland. tmpak2llvmy_mondo_relaxed.owl submandibular gland benign neoplasm|benign submandibular gland neoplasm|benign tumor of the submandibular gland|benign neoplasm of the submandibular gland|benign tumor of submandibular gland|benign submandibular gland tumor SCTID:92415001|UMLS:C0685988|NCIT:C4891 owl:Class MONDO:0010951 biolink:NamedThing dilated cardiomyopathy 1B A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial dilated, 1|cardiomyopathy, familial dilated|cardiomyopathy, dilated, 1B|dilated cardiomyopathy type 1B OMIM:600884|DOID:0110443|ICD10:I42.0 owl:Class MONDO:0007379 biolink:NamedThing Meesmann corneal dystrophy Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. tmpak2llvmy_mondo_relaxed.owl juvenile hereditary epithelial dystrophy|corneal dystrophy, Meesmann|Meesman dystrophy|Meesmann corneal epithelial dystrophy|Meesmann corneal dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|stocker-Holt dystrophy|juvenile epithelial of Meesmann corneal dystrophy|corneal dystrophy, juvenile epithelial, of Meesmann|corneal dystrophy, juvenile epithelial of Meesmann|MECD|corneal dystrophy, Meesmann epithelial MESH:D053559|GARD:0009688|ICD10:H18.52|UMLS:C0339277|Orphanet:98954|ICD10:H18.5|NCIT:C84795|DOID:0060451|ICD9:371.51|SCTID:1674008|OMIMPS:122100 https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy owl:Class UBERON:0004644 biolink:NamedThing fourth ventricle ependyma An ependyma that is part of a fourth ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl 4th ventricle ependyma|ependyma of fourth ventricle owl:Class UBERON:0005357 biolink:NamedThing brain ependyma the ependymal cell layer that lines the brain ventricles tmpak2llvmy_mondo_relaxed.owl ependyma of ventricular system of brain owl:Class GO:0032108 biolink:NamedThing negative regulation of response to nutrient levels Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. tmpak2llvmy_mondo_relaxed.owl inhibition of response to nutrient levels|downregulation of response to nutrient levels|down-regulation of response to nutrient levels|down regulation of response to nutrient levels owl:Class GO:0032105 biolink:NamedThing negative regulation of response to extracellular stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of response to extracellular stimulus|downregulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|down-regulation of response to extracellular stimulus owl:Class CHEBI:25512 biolink:NamedThing neurotransmitter An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. tmpak2llvmy_mondo_relaxed.owl neurotransmitters owl:Class CHEBI:33280 biolink:NamedThing molecular messenger tmpak2llvmy_mondo_relaxed.owl chemical messenger owl:Class HP:0000525 biolink:NamedThing Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. tmpak2llvmy_mondo_relaxed.owl Abnormality of the iris UMLS:C4025845 human_phenotype owl:Class HP:0004328 biolink:NamedThing Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). tmpak2llvmy_mondo_relaxed.owl Abnormality of the anterior segment of the eye|Abnormal anterior segment morphology|Abnormality of the anterior segment of the globe|Abnormality of the anterior segment of the eyeball UMLS:C4025355 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. peter 2008-02-27T04:23:00Z human_phenotype owl:Class UBERON:0009015 biolink:NamedThing upper back skin A zone of skin that is part of a dorsal thoracic segment of trunk. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001418 biolink:NamedThing skin of thorax A zone of skin that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl thoracic skin|zone of skin of thorax|upper body skin|thorax zone of skin|thorax skin owl:Class MONDO:0006616 biolink:NamedThing toxicodendron dermatitis An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl contact dermatitis due to genus Toxicodendron|Rhus dermatitis ICD9:692.6|SCTID:410049000|DOID:3819|MESH:D011040|UMLS:C0032342|EFO:1000773 owl:Class MONDO:0006525 biolink:NamedThing allergic contact dermatitis An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. tmpak2llvmy_mondo_relaxed.owl allergic form of contact dermatitis|allergic contact dermatitis UMLS:C0162820|MESH:D017449|SCTID:238575004|ICD9:692.9|EFO:1000668|ICD10:L23|NCIT:C26998|DOID:3042|ICD10:L23.9 owl:Class MONDO:0007836 biolink:NamedThing IVIC syndrome IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. tmpak2llvmy_mondo_relaxed.owl oculootoradial syndrome|oculo-oto-radial syndrome|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|IVIC syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|OORS OMIM:147750|MESH:C535544|Orphanet:2307|ICD10:Q71.8|UMLS:C1327918|DOID:0111381|GARD:0000269|SCTID:722019000 https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome owl:Class MONDO:0010438 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 1 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. tmpak2llvmy_mondo_relaxed.owl paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|PIGA paroxysmal nocturnal hemoglobinuria|pIgA paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria type 1|paroxysmal nocturnal hemoglobinuria 1|PNH1 UMLS:C3806670|OMIM:300818 owl:Class MONDO:0003327 biolink:NamedThing peripheral ganglioneuroblastoma A ganglioneuroblastoma arising from the peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl peripheral nervous system ganglioneuroblastoma|PNS ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)|ganglioneuroblastoma (disease) of peripheral nervous system|peripheral ganglioneuroblastoma NCIT:C6594|UMLS:C1335387|DOID:5195 Editor note: logical definition removed as it leads to equivalency with parent owl:Class MONDO:0014581 biolink:NamedThing congenital myasthenic syndrome 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, slow-channel|SCCMS|congenital myasthenic syndrome 2A slow-channel|slow channel congenital myasthenic syndrome|myasthenic syndrome, congenital, type IIa|CMS IIa|CMS2A|myasthenic syndrome, congenital, 2A, slow-channel|congenital myasthenic syndrome type 2A|myasthenic syndrome, congenital, postsynaptic slow-channel GARD:0009895|OMIM:616313|UMLS:C4225374|DOID:0110681 owl:Class MONDO:0020344 biolink:NamedThing postsynaptic congenital myasthenic syndrome tmpak2llvmy_mondo_relaxed.owl postsynaptic congenital myasthenic syndromes Orphanet:98913|ICD10:G70.2 owl:Class MONDO:0002082 biolink:NamedThing endocrine gland neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl endocrine system tumor|endocrine system neoplasm|neoplasm of endocrine gland|endocrine gland tumor|tumor of endocrine gland|endocrine neoplasm|malignant endocrine tumor|endocrine tumor|endocrine gland neoplasm (disease) NCIT:C3010|ICD9:239.7|SCTID:387922007|EFO:0003769 owl:Class CHEBI:23905 biolink:NamedThing monoatomic anion tmpak2llvmy_mondo_relaxed.owl monoatomic anions owl:Class CHEBI:22563 biolink:NamedThing anion A monoatomic or polyatomic species having one or more elementary charges of the electron. tmpak2llvmy_mondo_relaxed.owl Anion|aniones|anions|anion|Anionen owl:Class MONDO:0100069 biolink:NamedThing hearing impairment and infertile male syndrome A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology. tmpak2llvmy_mondo_relaxed.owl hearing impairment and infertile male syndrome|HIIMS 2018-12-17 19:16:55+00:00 There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). owl:Class MONDO:0015144 biolink:NamedThing brain inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the brain. tmpak2llvmy_mondo_relaxed.owl brain inflammation|inflammation of brain Orphanet:102005|UMLS:CN197488 owl:Class UBERON:0006273 biolink:NamedThing otic pit the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles tmpak2llvmy_mondo_relaxed.owl otic cup owl:Class MONDO:0023212 biolink:NamedThing Garret-Tripp syndrome tmpak2llvmy_mondo_relaxed.owl polydactyly alopecia seborrheic dermatitis|intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Garret Tripp syndrome|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip GARD:0002435|MESH:C535646|UMLS:C2930965 https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome owl:Class MONDO:0008918 biolink:NamedThing carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. tmpak2llvmy_mondo_relaxed.owl CACTD|CARNITINE-acylcarnitine translocase deficiency|carnitine-acylcarnitine translocase deficiency|CACT deficiency|Cact deficiency Orphanet:159|ICD10:E71.3|SCTID:238003000|MESH:C562812|NCIT:C133086|UMLS:C0342791|DOID:0111585|GARD:0001123|OMIM:212138 https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency owl:Class MONDO:0016328 biolink:NamedThing fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN226902|Orphanet:217591 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO_0017713 owl:Class MONDO:0003209 biolink:NamedThing thymus gland adenocarcinoma A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. tmpak2llvmy_mondo_relaxed.owl Thymus adenocarcinoma|thymus adenocarcinoma|thymic adenocarcinoma|adenocarcinoma of the Thymus|adenocarcinoma of Thymus UMLS:C1336743|NCIT:C6459|DOID:4923 owl:Class MONDO:0014185 biolink:NamedThing chromosome 3q13.31 deletion syndrome 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. tmpak2llvmy_mondo_relaxed.owl 3q13 microdeletion syndrome|Del(3)(q13)|monosomy 3q13|chromosome 3q13.31 deletion syndrome MESH:C536808|ICD10:Q93.5|DOID:0060418|SCTID:726705007|UMLS:C3809490|OMIM:615433|Orphanet:1621|UMLS:CN036884 owl:Class MONDO:0016902 biolink:NamedThing partial deletion of the long arm of chromosome 3 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 3|partial monosomy of chromosome 3q|partial deletion of the long arm of chromosome type 3|partial deletion of chromosome 3q Orphanet:262019|ICD10:Q93.5 owl:Class CHEBI:16189 biolink:NamedThing sulfate A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid. tmpak2llvmy_mondo_relaxed.owl Sulfate dianion|tetraoxosulfate(VI)|Sulfuric acid ion(2-)|Sulfate(2-)|Sulfate|tetraoxosulfate(2-)|SO4(2-)|[SO4](2-)|Sulfate anion(2-)|SULFATE ION|sulphate ion|tetraoxidosulfate(2-)|sulfate|sulphate owl:Class CHEBI:79388 biolink:NamedThing divalent inorganic anion Any inorganic anion with a valency of two. tmpak2llvmy_mondo_relaxed.owl divalent inorganic anions owl:Class MONDO:0024551 biolink:NamedThing X-linked lymphoproliferative disease due to SH2D1A deficiency A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. tmpak2llvmy_mondo_relaxed.owl Duncan disease|infectious mononucleosis, Severe, susceptibility to|X-linked lymphoproliferative disease due to SH2D1A deficiency|immunodeficiency, X-linked progressive combined variable|XLP1|Purtilo syndrome|Xlp|EBV infection, Severe, susceptibility to|immunodeficiency 5|Epstein-Barr Virus infection, familial fatal|lymphoproliferative syndrome, X-linked, 1|lymphoproliferative disease, X-linked|Lyp Orphanet:538931|OMIM:308240 owl:Class MONDO:0015445 biolink:NamedThing autosomal dominant coarctation of aorta Autosomal dominant form of aorta coarctation. tmpak2llvmy_mondo_relaxed.owl aorta coarctation, autosomal dominant|autosomal dominant aorta coarctation ICD10:Q25.1|Orphanet:1455 owl:Class HGNC:12731 biolink:NamedThing WAS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002120 biolink:NamedThing pronephros In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. tmpak2llvmy_mondo_relaxed.owl pronephric kidney|archinephron|pronephron|embryonic kidney owl:Class MONDO:0010519 biolink:NamedThing alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. tmpak2llvmy_mondo_relaxed.owl ATR, Nondeletion type|alpha-thalassemia/mental retardation syndrome nondeletion type|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|Alpha thalassemia X-linked intellectual disability syndrome|alpha thalassemia-X-linked intellectual disability syndrome|Alpha-thalassemia-X-linked intellectual disability syndrome|ATR, nondeletion type|XLMR hypotonic face syndrome|ATR-X syndrome|ATRX|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|Alpha thalassemia/intellectual disability syndrome X-linked|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia/mental retardation syndrome X-linked|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|Alpha thalassemia X-linked mental retardation syndrome|Alpha-thalassemia x-linked intellectual disability syndrome|ATRX syndrome|ALPHA-thalassemia/mental retardation syndrome, X-linked NCIT:C118631|UMLS:C1845055|DOID:0110030|OMIM:301040|ICD10:D56.0|MESH:C538258|SCTID:715342005|GARD:0005864|Orphanet:847 Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome owl:Class MONDO:0016513 biolink:NamedThing alpha-thalassemia-related diseases This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* tmpak2llvmy_mondo_relaxed.owl UMLS:CN201534|Orphanet:232288|ICD10:D56.0 owl:Class MONDO:0013523 biolink:NamedThing Nestor-Guillermo progeria syndrome tmpak2llvmy_mondo_relaxed.owl PSCOO|NGPS|progeria syndrome, childhood-onset, with osteolysis|Nestor-Guillermo progeria syndrome GARD:0011008|ICD10:E34.8|OMIM:614008|Orphanet:280576|UMLS:C3151446 https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome owl:Class MONDO:0019707 biolink:NamedThing primary osteolysis tmpak2llvmy_mondo_relaxed.owl Orphanet:93449 owl:Class MONDO:0004494 biolink:NamedThing testicular yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. tmpak2llvmy_mondo_relaxed.owl testicular yolk sac tumor, hepatoid pattern|hepatoid pattern testicular yolk sac tumor NCIT:C39931|UMLS:C1515306|DOID:8195 owl:Class MONDO:0043085 biolink:NamedThing chromosome 1, uniparental disomy 1q12 q21 tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy 1q12 q21|uniparental disomy 1q12 q21 UMLS:CN035970|GARD:0001878|MESH:C538085 owl:Class MONDO:0014698 biolink:NamedThing microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome tmpak2llvmy_mondo_relaxed.owl epilepsy, hearing loss, and intellectual disability syndrome|epilepsy, hearing loss, and mental retardation syndrome|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome|EHLMRS UMLS:C4225276|OMIM:616577|Orphanet:457351 owl:Class UBERON:0001173 biolink:NamedThing biliary tree A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. tmpak2llvmy_mondo_relaxed.owl biliary tract owl:Class MONDO:0009528 biolink:NamedThing chylomicron retention disease Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. tmpak2llvmy_mondo_relaxed.owl hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|chylomicron retention disease|Anderson disease|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells|CMRD|CRD|lipid Transport defect of intestine GARD:0009683|UMLS:C0795956|Orphanet:71|MESH:C535460|SCTID:702364003|ICD10:E78.6|OMIM:246700|ICD10:E78.3|DOID:0060357 https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease owl:Class MONDO:0017774 biolink:NamedThing hypobetalipoproteinemia Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. tmpak2llvmy_mondo_relaxed.owl hypo-beta-lipoproteinemia MESH:D006995|ICD10:E78.6|SCTID:190786004|Orphanet:31154|UMLS:C0020597|DOID:1390 owl:Class OBO:CP_0000037 biolink:NamedThing increased nucleus size A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. tmpak2llvmy_mondo_relaxed.owl tmeehan 2009-12-23T10:53:24Z cell owl:Class GO:0005634 biolink:NamedThing nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. tmpak2llvmy_mondo_relaxed.owl horsetail nucleus|cell nucleus owl:Class MONDO:0005871 biolink:NamedThing Nematoda infectious disease Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. tmpak2llvmy_mondo_relaxed.owl nematodiasis|Infection, Nematode|Nematoda disease or disorder|Nematode infection|disease due to nematoda|nematode infection|Nematode Infection|Nematodiasis|Nematoda caused disease or disorder|Infections, Nematode|Disease due to Nematoda|Nematode Infections MESH:D009349|UMLS:C0027583|SCTID:84706005|EFO:0007391 MONDO:0021556 owl:Class MONDO:0004664 biolink:NamedThing helminthiasis A parasitic infection characterized by the infestation with worms, mainly in the intestine. tmpak2llvmy_mondo_relaxed.owl helminthiasis|helminth infection|helminthosis|parasitic helminthiasis infectious disease|worm infection EFO:1001342|ICD10:B65-B83|UMLS:C0018889|ICD10:B65.B83|ICD10:B83.9|MESH:D006373|NCIT:C84751|ICD9:128.8|SCTID:27601005|DOID:883|GARD:0006578|ICD9:128.9|ICD9:120-129.99 Editor note: this is a vague grouping and does not correspond to any one taxon owl:Class GO:0030813 biolink:NamedThing positive regulation of nucleotide catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpak2llvmy_mondo_relaxed.owl up regulation of nucleotide catabolic process|positive regulation of nucleotide catabolism|positive regulation of nucleotide breakdown|upregulation of nucleotide catabolic process|up-regulation of nucleotide catabolic process|activation of nucleotide catabolic process|positive regulation of nucleotide degradation|stimulation of nucleotide catabolic process owl:Class MONDO:0019358 biolink:NamedThing encephalopathy due to sulfite oxidase deficiency Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. tmpak2llvmy_mondo_relaxed.owl ICD10:E72.1|Orphanet:833|UMLS:C4275019|SCTID:715980003 owl:Class MONDO:0019222 biolink:NamedThing inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn error of sulfur amino acid metabolic process|rare inborn error of sulfur amino acid metabolic process|disorder of methionine cycle and sulfur amino acid metabolism|inborn sulfur amino acid metabolic process disorder|cytosolic methyl group transfer or sulfur amino acid metabolism disorder Orphanet:79173|SCTID:28882002|ICD10:E72.1|UMLS:CN227589|ICD9:270.4 Editor note: check this owl:Class HGNC:14291 biolink:NamedThing NLGN1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33327 biolink:NamedThing silicon oxide tmpak2llvmy_mondo_relaxed.owl silicon oxides|oxides of silicon owl:Class CHEBI:24836 biolink:NamedThing inorganic oxide tmpak2llvmy_mondo_relaxed.owl inorganic oxides owl:Class HP:0009124 biolink:NamedThing Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. tmpak2llvmy_mondo_relaxed.owl Abnormality of fatty tissue|Abnormality of fat tissue|Abnormality of adipose tissue UMLS:C4021524 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0100014 biolink:NamedThing autoimmune retinopathy An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. tmpak2llvmy_mondo_relaxed.owl autoimmune disease of retina|AIR|retina autoimmune disease 2018-05-23 00:32:51+00:00 SCTID:724809006|GARD:0012034|UMLS:C3203657 owl:Class MONDO:0002977 biolink:NamedThing autoimmune disease of the nervous system A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. tmpak2llvmy_mondo_relaxed.owl neurologic autoimmune disease|nervous system immune diseases|nervous system immune disorders|diseases, neurologic autoimmune|neurologic autoimmune diseases|nervous system hypersensitivity reaction type II disease|autoimmune disease, neurologic|nervous system autoimmune disease|autoimmune disorders of the nervous system|immune disorders, nervous system|autoimmune diseases, nervous system|autoimmune diseases, neurologic|immune diseases, nervous system|autoimmune disease of nervous system|autoimmune disorders, nervous system|disease, neurologic autoimmune|nervous system autoimmune diseases|autoimmune nervous system disorder|autoimmune nervous system diseases UMLS:C0751872|DOID:438|UMLS:C0751871|NCIT:C99383|MESH:D020274 owl:Class NCBITaxon:1301 biolink:NamedThing Streptococcus tmpak2llvmy_mondo_relaxed.owl PMID:10555340|PMID:14657115|GC_ID:11|PMID:19620365|PMID:1720654|PMID:19880633|PMID:7537076|PMID:8995803 ncbi_taxonomy owl:Class NCBITaxon:1300 biolink:NamedThing Streptococcaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003037 biolink:NamedThing hypotrichosis A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. tmpak2llvmy_mondo_relaxed.owl OMIMPS:605389|SCTID:53602002|ICD9:704.09|NCIT:C34720|DOID:4535|MESH:D007039 owl:Class MONDO:0016994 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. tmpak2llvmy_mondo_relaxed.owl microcephalic osteodysplastic primordial dwarfism types 1 and 3|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|primordial microcephalic dwarfism, Crachami type|low-birth-weight dwarfism with skeletal dysplasia|MOPD 1|MOPD types I and III|Taybi-Linder syndrome|Brachymelic primordial dwarfism|Cephaloskeletal dysplasia|microcephalic osteodysplastic primordial dwarfism type 1|osteodysplastic primordial dwarfism type I UMLS:CN202308|Orphanet:2636|SCTID:725461009|GARD:0005120|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 owl:Class MONDO:0019973 biolink:NamedThing persistent placoid maculopathy Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. tmpak2llvmy_mondo_relaxed.owl Orphanet:97341|SCTID:719297006|UMLS:C4304823 owl:Class MONDO:0006549 biolink:NamedThing fibroepithelial polyp of the anus A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium. tmpak2llvmy_mondo_relaxed.owl anal tag|anal fibroepithelial polyp|fibrous polyp of the anus|anal fibrous polyp|skin tag of anus|fibroepithelial polyp of anus|fibrous polyp of anus|anus skin tag EFO:1000699|NCIT:C4435|SCTID:195469007|DOID:8170 owl:Class CHEBI:48378 biolink:NamedThing carboximidic acid tmpak2llvmy_mondo_relaxed.owl carboximidic acids|carboximidic acid owl:Class CHEBI:48377 biolink:NamedThing imidic acid Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH). tmpak2llvmy_mondo_relaxed.owl imino acids|imidic acids|imidic acid owl:Class MONDO:0006702 biolink:NamedThing chronic inflammatory demyelinating polyradiculoneuropathy A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. tmpak2llvmy_mondo_relaxed.owl chronic inflammatory demyelinating polyneuropathy|chronic inflammatory demyelinating polyradiculoneuropathy|CIDP|chronic relapsing polyneuropathy Orphanet:2932|SCTID:128209004|ICD9:357.81|MedDRA:10057645|ICD9:357.89|DOID:5213|MESH:D020277|ICD10:G61.81|EFO:1000868 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760|https://github.com/monarch-initiative/mondo/issues/3697 owl:Class MONDO:0003334 biolink:NamedThing demyelinating polyneuropathy Polyneuropathy that is characterized by demyelination of axons. tmpak2llvmy_mondo_relaxed.owl peripheral demyelinating neuropathy UMLS:C0270922|ICD9:356.9|SCTID:23414001|NCIT:C27062|DOID:5214 owl:Class GO:0045861 biolink:NamedThing negative regulation of proteolysis Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpak2llvmy_mondo_relaxed.owl downregulation of proteolysis|down-regulation of proteolysis|inhibition of proteolysis|negative regulation of peptidolysis|down regulation of proteolysis owl:Class GO:0032269 biolink:NamedThing negative regulation of cellular protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl downregulation of cellular protein metabolic process|negative regulation of cellular protein metabolism|inhibition of cellular protein metabolic process|down-regulation of cellular protein metabolic process|down regulation of cellular protein metabolic process owl:Class MONDO:0004566 biolink:NamedThing postgastrectomy syndrome Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. tmpak2llvmy_mondo_relaxed.owl postgastric surgery syndrome UMLS:C0032763|SCTID:80193009|MESH:D011178|ICD9:564.2|DOID:8439|ICD10:K91.1 owl:Class MONDO:0001318 biolink:NamedThing functional gastric disease tmpak2llvmy_mondo_relaxed.owl functional gastric disturbance|disorder of gastric function|disorder of stomach function|functional gastric disorder|disorder of function of stomach ICD9:306.4|ICD9:536.8|ICD9:536.9|SCTID:150541000119104|SCTID:386211005|DOID:1159 owl:Class MONDO:0020173 biolink:NamedThing benign tumor of palpebral epidermis A benign neoplasm that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl skin of eyelid benign neoplasm UMLS:CN207034|Orphanet:98582 owl:Class MONDO:0022919 biolink:NamedThing cytokine receptor deficiency A disease that has its basis in the disruption of cytokine receptor activity. tmpak2llvmy_mondo_relaxed.owl cytokine receptor activity disease|disorder of cytokine receptor activity GARD:0009530 Editor note: todo, align https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency owl:Class UBERON:0003587 biolink:NamedThing limb connective tissue A portion of connective tissue that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl limb textus connectivus|limb portion of connective tissue|portion of connective tissue of limb|connective tissue of limb|textus connectivus of limb owl:Class MONDO:0016856 biolink:NamedThing Mowat-Wilson syndrome due to a ZEB2 point mutation tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease and intellectual disability due to a ZEB2 point mutation UMLS:CN202199|ICD10:Q43.1|Orphanet:261552 owl:Class MONDO:0009341 biolink:NamedThing Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. tmpak2llvmy_mondo_relaxed.owl Mowat-Wilson syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|Hirschsprung disease intellectual disability syndrome|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|Hirschsprung disease mental retardation syndrome|Hirschsprung disease-intellectual disability syndrome|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|MOWS|Hirschsprung disease-mental retardation syndrome DOID:0060485|GARD:0009673|MESH:C536990|ICD9:759.89|SCTID:703535000|NCIT:C74999|ICD10:Q43.1|Orphanet:2152|UMLS:C1856113|OMIM:235730 https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome owl:Class MONDO:0019455 biolink:NamedThing acute panmyelosis with myelofibrosis An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis. tmpak2llvmy_mondo_relaxed.owl acute myelosclerosis|acute panmyelosis|acute (malignant) myelosclerosis|acute myelodysplasia with myelofibrosis|acute myelofibrosis|acute (malignant) myelofibrosis|APMF UMLS:C0334674|Orphanet:86843|ICD10:C94.4|ICD9:289.89|SCTID:109991003|ONCOTREE:APMF|GARD:0011907|ICDO:9931/3|NCIT:C4344|MedDRA:10000879 https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis owl:Class MONDO:0015667 biolink:NamedThing acute myeloid leukemia by FAB classification Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. tmpak2llvmy_mondo_relaxed.owl acute myeloid leukemia NOS|acute myeloid leukemia not otherwise specified|acute myeloid leukemia|unclassified acute myeloid leukemia|acute myeloid leukemia not otherwise categorized|unclassified AML|AML, NOS|acute myeloid leukemia, NOS GARD:0012760|NCIT:C27753|Orphanet:167714 https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia owl:Class MONDO:0010370 biolink:NamedThing Cornelia de Lange syndrome 2 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. tmpak2llvmy_mondo_relaxed.owl Cornelia DE Lange syndrome 2|Cornelia De Lange syndrome type 2|SMC1A Cornelia de Lange syndrome|Cornelia De Lange syndrome, X-linked|Cdls, X-linked|Cornelia de Lange syndrome caused by mutation in SMC1A|CDLS2|Cornelia de Lange syndrome 2|X-linked Cornelia De Lange syndrome DOID:0080506|UMLS:C1802395|NCIT:C75485|OMIM:300590 owl:Class UBERON:0016886 biolink:NamedThing muscle tissue of terminal part of digestive tract Any muscle tissue of the distalmost portion of the digestive tract. tmpak2llvmy_mondo_relaxed.owl rectum muscle structure|rectum muscle owl:Class GO:1901617 biolink:NamedThing organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. tmpak2llvmy_mondo_relaxed.owl organic hydroxy compound biosynthesis|organic hydroxy compound anabolism|organic hydroxy compound formation|organic hydroxy compound synthesis owl:Class GO:1901615 biolink:NamedThing organic hydroxy compound metabolic process The chemical reactions and pathways involving organic hydroxy compound. tmpak2llvmy_mondo_relaxed.owl organic hydroxy compound metabolism owl:Class MONDO:0008787 biolink:NamedThing microcytic anemia with liver iron overload Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. tmpak2llvmy_mondo_relaxed.owl AHMIO1|hypochromic microcytic anemia with iron overload|anemia, hypochromic microcytic, with iron overload type 1|anemia, hypochromic microcytic, with iron overload 1|microcytic anemia and hepatic iron overload GARD:0012360|ICD10:D50.8|OMIM:206100|Orphanet:83642|SCTID:711161006 owl:Class MONDO:0020098 biolink:NamedThing constitutional anemia due to iron metabolism disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227778|ICD10:D50.8|Orphanet:98360 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited deficiency anemia' MONDO_0016624 owl:Class MONDO:0013247 biolink:NamedThing Fanconi renotubular syndrome 2 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. tmpak2llvmy_mondo_relaxed.owl FRTS2|SLC34A1 Fanconi syndrome|Fanconi renotubular syndrome type 2|Fanconi syndrome caused by mutation in SLC34A1|Fanconi renotubular syndrome 2 UMLS:C3150652|OMIM:613388 owl:Class MONDO:0007600 biolink:NamedThing primary Fanconi syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. tmpak2llvmy_mondo_relaxed.owl Fanconi renotubular syndrome 1|primary Fanconi renotubular syndrome|FRTS1 2021-01-01 ICD10:E72.0|NCIT:C123229|Orphanet:3337|GARD:0009118 Reason: duplicate. This will be merged with MONDO:0100238 inherited Fanconi renotubular syndrome https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome owl:Class GO:0032106 biolink:NamedThing positive regulation of response to extracellular stimulus Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl activation of response to extracellular stimulus|up regulation of response to extracellular stimulus|upregulation of response to extracellular stimulus|stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus owl:Class GO:0032104 biolink:NamedThing regulation of response to extracellular stimulus Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032891 biolink:NamedThing negative regulation of organic acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl inhibition of organic acid transport|downregulation of organic acid transport|down-regulation of organic acid transport|down regulation of organic acid transport owl:Class GO:0032890 biolink:NamedThing regulation of organic acid transport Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005734 biolink:NamedThing tunica adventitia of blood vessel The outermost layer of a blood vessel, composed mainly of fibrous tissue. tmpak2llvmy_mondo_relaxed.owl tunica externa vasorum|tunica adventitia of vessel|tunica adventitia|tunica adventitia vasorum|external coat|adventitia externa owl:Class MONDO:0019460 biolink:NamedThing acute leukemia of ambiguous lineage An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl hybrid acute leukemia|AML with lymphoid markers|mixed lineage acute leukemia|ALL with myeloid markers|acute leukemia of indeterminate lineage|mixed phenotype acute leukemia|biphenotypic acute leukemia|BAL|acute leukemia of ambiguous lineage|acute leukemia of undetermined lineage Orphanet:86851|UMLS:C1301357|ICD10:C95.0|GARD:0008638|SCTID:721308005|MedDRA:10067399|NCIT:C7464 owl:Class GO:0030100 biolink:NamedThing regulation of endocytosis Any process that modulates the frequency, rate or extent of endocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001225 biolink:NamedThing kidney collecting duct cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001012|Wikipedia:Kidney_collecting_duct_cell cell owl:Class CL:1000449 biolink:NamedThing epithelial cell of nephron An epithelial cell that is part of the nephron. tmpak2llvmy_mondo_relaxed.owl FMA:70965 cell owl:Class GO:0055078 biolink:NamedThing sodium ion homeostasis Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055065 biolink:NamedThing metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:171637 biolink:NamedThing Amygdaloideae tmpak2llvmy_mondo_relaxed.owl Maloideae|Spiraeoideae PMID:24631854|GC_ID:1 NCBITaxon:721786|NCBITaxon:171636 ncbi_taxonomy owl:Class NCBITaxon:3745 biolink:NamedThing Rosaceae tmpak2llvmy_mondo_relaxed.owl rose family|Malaceae GC_ID:1 ncbi_taxonomy owl:Class HP:0000939 biolink:NamedThing Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). tmpak2llvmy_mondo_relaxed.owl UMLS:C0029456|SNOMEDCT_US:64859006|MSH:D010024 Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. HP:0002774 human_phenotype owl:Class HP:0004349 biolink:NamedThing Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. tmpak2llvmy_mondo_relaxed.owl Decreased bone mineral density Z score|Low solidness and mass of the bones|Decreased bone mineral density UMLS:C2674432 peter 2008-03-11T08:10:00Z human_phenotype owl:Class UBERON:0005019 biolink:NamedThing mucosa of palate A mucosa that is part of a palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of oral roof|mucous membrane of roof of mouth|roof of mouth organ mucosa|oral roof mucosa of organ|roof of mouth mucosa of organ|organ mucosa of oral roof|organ mucosa of palate|palate mucosa|oral roof mucosa|palate mucous membrane|mucosa of organ of roof of mouth|roof of mouth mucous membrane|mucosa of organ of palate|mucous membrane of oral roof|mucosa of organ of oral roof|organ mucosa of roof of mouth|palate mucosa of organ|mucous membrane of palate|mucosa of roof of mouth|oral roof organ mucosa|oral roof mucous membrane|palate organ mucosa|roof of mouth mucosa owl:Class GO:0045989 biolink:NamedThing positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction. tmpak2llvmy_mondo_relaxed.owl up regulation of striated muscle contraction|upregulation of striated muscle contraction|up-regulation of striated muscle contraction|activation of striated muscle contraction|stimulation of striated muscle contraction owl:Class GO:0045933 biolink:NamedThing positive regulation of muscle contraction Any process that activates or increases the frequency, rate or extent of muscle contraction. tmpak2llvmy_mondo_relaxed.owl up regulation of muscle contraction|stimulation of muscle contraction|upregulation of muscle contraction|activation of muscle contraction|up-regulation of muscle contraction owl:Class MONDO:0018298 biolink:NamedThing multicentric osteolysis-nodulosis-arthropathy spectrum Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. tmpak2llvmy_mondo_relaxed.owl mona spectrum Orphanet:371428|ICD10:Q85.9|UMLS:CN227313|SCTID:716868003 owl:Class UBERON:0009576 biolink:NamedThing medulla oblongata sulcus limitans A sulcus limitans of neural tube that is part of a future medulla oblongata. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007805 biolink:NamedThing hypotrichosis 2 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene. tmpak2llvmy_mondo_relaxed.owl hypotrichosis type 2|Spanish type hypotrichosis|hypt2|CDSN hypotrichosis|hypotrichosis simplex of the scalp 1|Htss|HYPT2|hypotrichosis 2|hypotrichosis caused by mutation in CDSN|hypotrichosis, Spanish type OMIM:146520|MESH:C564143|DOID:0110699 owl:Class MONDO:0019575 biolink:NamedThing hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. tmpak2llvmy_mondo_relaxed.owl hereditary hypotrichosis simplex of the scalp SCTID:717256009|Orphanet:90368|ICD10:L65.8 owl:Class MONDO:0014732 biolink:NamedThing hypomyelinating leukodystrophy 12 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. tmpak2llvmy_mondo_relaxed.owl HLD12|hypomyelinating leukodystrophy type 12|VPS11 leukodystrophy|VPS11-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy, hypomyelinating, type 12|VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy caused by mutation in VPS11|leukodystrophy, hypomyelinating, 12 DOID:0060796|Orphanet:466934|OMIM:616683|UMLS:C4225247 owl:Class UBERON:0005985 biolink:NamedThing coronary vessel Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000055 biolink:NamedThing vessel A tubular structure that contains, conveys body fluid, such as blood or lymph. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042310 biolink:NamedThing vasoconstriction A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. tmpak2llvmy_mondo_relaxed.owl negative regulation of blood vessel size owl:Class GO:0097746 biolink:NamedThing blood vessel diameter maintenance Any process that modulates the diameter of blood vessels. tmpak2llvmy_mondo_relaxed.owl regulation of vasodilation|regulation of blood vessel diameter|blood vessel diameter homeostasis|regulation of blood vessel size|regulation of vasodilatation owl:Class MONDO:0010772 biolink:NamedThing Leber optic atrophy and dystonia tmpak2llvmy_mondo_relaxed.owl Leber hereditary optic neuropathy with dystonia|LHON and dystonia|dystonia familial, with visual failure and striatal lucencies|LDYT|Leber optic atrophy and dystonia|Leber Hereditary optic neuropathy with dystonia|Marsden syndrome|dystonia, familial, with visual failure and striatal lucencies|Leber's hereditary optic neuropathy with dystonia GARD:0008476|UMLS:C1839040|OMIM:500001|MESH:C536024|DOID:0111755 owl:Class MONDO:0020478 biolink:NamedThing Leber plus disease Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. tmpak2llvmy_mondo_relaxed.owl LHON plus disease DOID:0111754|Orphanet:99718|SCTID:719430008|UMLS:C4304725|UMLS:CN207347|ICD10:H47.2 owl:Class MONDO:0014222 biolink:NamedThing immunodeficiency 14 tmpak2llvmy_mondo_relaxed.owl p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|immunodeficiency 14|immunodeficiency type 14|Activated PI3K-Delta syndrome|IMD14 OMIM:615513 owl:Class MONDO:0018338 biolink:NamedThing activated PI3K-delta syndrome tmpak2llvmy_mondo_relaxed.owl APDS|senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation Orphanet:397596|ICD10:D81.8|ICD9:279.8|GARD:0011983|SCTID:711480000|UMLS:C3714976 owl:Class MONDO:0009565 biolink:NamedThing microcephaly-glomerulonephritis-marfanoid habitus syndrome This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. tmpak2llvmy_mondo_relaxed.owl microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis ICD10:Q87.8|Orphanet:2172|UMLS:C1855348|OMIM:248760|GARD:0003615|MESH:C565411 https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus owl:Class GO:0015171 biolink:NamedThing amino acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. tmpak2llvmy_mondo_relaxed.owl amino acid transporter activity|amino acid/choline transmembrane transporter activity|hydroxy/aromatic amino acid permease activity|amino acid permease activity|general amino acid permease activity owl:Class GO:0046943 biolink:NamedThing carboxylic acid transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020121 biolink:NamedThing muscular dystrophy Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. tmpak2llvmy_mondo_relaxed.owl SCTID:73297009|GARD:0007922|Orphanet:98473|DOID:9884|NCIT:C84910|UMLS:C0026850|MedDRA:10028356|ICD9:359.1|ICD10:G71.0|MESH:D009136 https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy owl:Class CL:0000172 biolink:NamedThing somatostatin secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0140631 biolink:NamedThing aldehyde dehydrogenase (NAD+) inhibitor activity Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010675 biolink:NamedThing muscular dystrophy, cardiac type tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, cardiac type MESH:C563247|UMLS:C1442927|OMIM:309930 owl:Class HGNC:30074 biolink:NamedThing POLR3A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:950 biolink:NamedThing BAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:7147 biolink:NamedThing Diptera tmpak2llvmy_mondo_relaxed.owl flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33392 biolink:NamedThing Endopterygota tmpak2llvmy_mondo_relaxed.owl Holometabola GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003205 biolink:NamedThing renal pelvis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the renal pelvis tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of kidney pelvis|renal pelvis adenocarcinoma|kidney renal pelvis adenocarcinoma|adenocarcinoma of the renal pelvis|adenocarcinoma of renal pelvis|kidney pelvis adenocarcinoma|adenocarcinoma of the kidney pelvis NCIT:C6143|UMLS:C1335748|DOID:4918 owl:Class MONDO:0010315 biolink:NamedThing T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpak2llvmy_mondo_relaxed.owl SCID, X-linked|T-B+ SCID due to gamma chain deficiency|thymic epithelial hypoplasia|SCIDX1|severe combined immunodeficiency T- B+ due to gamma chain deficiency|T-B+ severe combined immunodeficiency, X-linked|X-SCID|XSCID|T-B+ severe combined immunodeficiency due to gamma chain deficiency|immunodeficiency 4|SCID-X1|X-linked SCID|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|severe combined immunodeficiency T- B+, X-linked|severe combined immunodeficiency, X-linked|SCIDX|X-linked severe combined immunodeficiency GARD:0005618|OMIM:300400|Orphanet:276|EFO:0005555|NCIT:C4682|ICD10:D81.2|SCTID:203592006|DOID:0060013 owl:Class MONDO:0044200 biolink:NamedThing T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. tmpak2llvmy_mondo_relaxed.owl T-cell negative B-cell positive SCID|T-B+ SCID Orphanet:317416|ICD10:D81.2 Editor note: add logical definition owl:Class NCBITaxon:44556 biolink:NamedThing Phlebotomus tmpak2llvmy_mondo_relaxed.owl Phlebotomus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:13203 biolink:NamedThing Phlebotomus tmpak2llvmy_mondo_relaxed.owl Phlebotomus GC_ID:1|PMID:9835021 ncbi_taxonomy owl:Class MONDO:0017010 biolink:NamedThing partial duplication of the long arm of chromosome X Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Duplication Xq|partial duplication of the long arm of chromosome type X|partial trisomy of the long arm of chromosome X|Xq trisomy|Xq duplication|chromosome Xq duplication|partial trisomy Xq|partial duplication of chromosome Xq|partial trisomy of chromosome Xq|trisomy Xq UMLS:C0795891|Orphanet:263783|GARD:0005369|ICD10:Q99.8|MESH:C536732 owl:Class MONDO:0017008 biolink:NamedThing partial duplication of chromosome X tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome X|partial duplication of chromosome type X ICD10:Q99.8|Orphanet:263768 owl:Class UBERON:0011642 biolink:NamedThing oral epithelium from ectoderm An epithelium that develops_from a ectoderm and is part of a oral epithelium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016930 biolink:NamedThing partial trisomy/tetrasomy of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial trisomy/tetrasomy of chromosome type 9|partial duplication/triplication of chromosome 9 Orphanet:262643 owl:Class MONDO:0002255 biolink:NamedThing hypertrophic elongation of cervix tmpak2llvmy_mondo_relaxed.owl UMLS:C0020561|SCTID:198353000|ICD10:N88.4|ICD9:622.6|DOID:2251 owl:Class MONDO:0002256 biolink:NamedThing cervix disease A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. tmpak2llvmy_mondo_relaxed.owl uterine cervix disease or disorder|disease of uterine cervix|disease or disorder of uterine cervix|uterine cervix disease|disorder of uterine cervix|cervical disorder NCIT:C40241|DOID:2253|SCTID:63339007|UMLS:C0007867|MESH:D002577 owl:Class MONDO:0009285 biolink:NamedThing gamma-glutamyl transpeptidase deficiency Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. tmpak2llvmy_mondo_relaxed.owl rare inborn error of glutathione hydrolase activity|gamma-glutamyltranspeptidase deficiency|inborn glutathione hydrolase activity disorder|GGT deficiency|inborn error of glutathione hydrolase activity|glutathionuria|GTG deficiency|gamma-glutamyltransferase deficiency|GGT1 deficiency OMIM:231950|GARD:0010099|UMLS:C0268524|SCTID:78586005|DOID:0111257|ICD10:E72.8|ICD9:270.8|MESH:C536836|Orphanet:33573 owl:Class MONDO:0002354 biolink:NamedThing benign laryngeal neoplasm A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. tmpak2llvmy_mondo_relaxed.owl larynx benign neoplasm|benign larynx neoplasm|benign larynx tumor|benign laryngeal neoplasm|benign neoplasm of the larynx|laryngeal tumor|larynx neoplasm|laryngeal neoplasm, benign|laryngeal benign neoplasm|benign tumor of the larynx|benign neoplasm of larynx|benign laryngeal tumor|benign tumor of larynx NCIT:C3601|SCTID:92175003|ICD9:212.1|DOID:2598|UMLS:C0153952 owl:Class MONDO:0000382 biolink:NamedThing respiratory system benign neoplasm A benign neoplasm that involves the respiratory system. tmpak2llvmy_mondo_relaxed.owl respiratory system benign neoplasm UMLS:C0497556|DOID:0050621|SCTID:255166003 owl:Class CHEBI:38101 biolink:NamedThing organonitrogen heterocyclic compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. tmpak2llvmy_mondo_relaxed.owl heterocyclic organonitrogen compounds|organonitrogen heterocyclic compounds owl:Class MONDO:0044646 biolink:NamedThing early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome tmpak2llvmy_mondo_relaxed.owl encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|PEBAT OMIM:617193|Orphanet:496641|UMLS:C4310671 owl:Class MONDO:0013793 biolink:NamedThing encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency tmpak2llvmy_mondo_relaxed.owl encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency OMIM:614520|UMLS:C3281106 owl:Class MONDO:0000327 biolink:NamedThing Buruli ulcer disease A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. tmpak2llvmy_mondo_relaxed.owl Mycobacterium ulcerans infectious disease|Buruli ulcer|Daintree ulcer|Searle's ulcer|Mossman ulcer|Mycobacterium ulcerans disease or disorder|Bairnsdale ulcer|Mycobacterium ulcerans caused disease or disorder|Searl ulcer MESH:D054312|EFO:1001281|NCIT:C84604|ICD10:A31.1|UMLS:C0085568|DOID:0050456|SCTID:15845006 owl:Class UBERON:0009117 biolink:NamedThing indifferent gonad A gonad prior to differentiating into a definitive testis or ovary. tmpak2llvmy_mondo_relaxed.owl gonad rudiment owl:Class UBERON:0000991 biolink:NamedThing gonad Reproductive organ that produces and releases eggs (ovary) or sperm (testis). tmpak2llvmy_mondo_relaxed.owl gonada|gonads owl:Class UBERON:0006285 biolink:NamedThing pubic pre-cartilage condensation A pubic endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005115 biolink:NamedThing metanephric cortical collecting duct The metanephric cortical collecting duct is the portion of the metanephric collecting duct that resides in the renal cortex[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004203 biolink:NamedThing cortical collecting duct The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex tmpak2llvmy_mondo_relaxed.owl renal cortex collecting duct|kidney cortex collecting duct owl:Class MONDO:0011962 biolink:NamedThing endometrial cancer Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). tmpak2llvmy_mondo_relaxed.owl neoplasm of endometrium|tumor of endometrium|endometrial neoplasm|cancer of endometrium|endometrial cancer|malignant endometrium neoplasm|endometrium cancer|malignant endometrial neoplasm|primary malignant neoplasm of endometrium|malignant neoplasm of endometrium|endometrial Ca DOID:1380|EFO:0004230|KEGG:05213|NCIT:C27815|OMIM:608089|ICD10:C54.1|GARD:0011981 owl:Class MONDO:0002715 biolink:NamedThing uterine cancer Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. tmpak2llvmy_mondo_relaxed.owl cancer of the uterus|tumour of uterus|uterine cancer|uterus cancer|malignant neoplasm of the uterus|uterus neoplasm|malignant tumor of uterus|malignant neoplasm of uterus|neoplasm of uterus|malignant uterine tumor|CA - cancer of uterus|uterine tumor|malignant uterine neoplasm|cancer of uterus|malignant uterus neoplasm|malignant tumor of the uterus NCIT:C3552|ICD9:179|DOID:363|MESH:D014594|ICD10:C55|SCTID:371973000 owl:Class MONDO:0044001 biolink:NamedThing hearing loss, mixed conductive-sensorineural Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. tmpak2llvmy_mondo_relaxed.owl hearing loss, mixed|mixed conductive and sensorineural hearing loss|Losses, mixed hearing|mixed type deafness|mixed hearing loss|mixed conductive and sensorineural deafness|mixed deafness|hearing loss, mixed conductive sensorineural|loss, mixed hearing UMLS:C0155552|NCIT:C26974|SCTID:77507001|MESH:D046089|EFO:1001803 owl:Class MONDO:0005365 biolink:NamedThing hearing loss disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. tmpak2llvmy_mondo_relaxed.owl hearing loss|hypoacuses|loss, hearing|hearing impairment|loss of hearing|hypoacusis|deafness SCTID:15188001|ICD10:H90|ICD9:389|UMLS:C1384666|ICD9:389.9|ICD9:389.8|MESH:D034381|EFO:0004238|NCIT:C35731 owl:Class HGNC:1442 biolink:NamedThing CALM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006797 biolink:NamedThing hypertensive retinopathy Retinopathy due to hypertension. tmpak2llvmy_mondo_relaxed.owl UMLS:C0152132|NCIT:C3514|SCTID:6962006|ICD10:H35.03|EFO:1000977|MESH:D058437|ICD9:362.11|DOID:11561|MedDRA:10020839 owl:Class HGNC:5167 biolink:NamedThing HPV18I2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014888 biolink:NamedThing MIRAGE syndrome An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. tmpak2llvmy_mondo_relaxed.owl mirage syndrome|mirage|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome Orphanet:494433|GARD:0013108|UMLS:C4284088|OMIM:617053|NCIT:C147530 owl:Class MONDO:0021501 biolink:NamedThing benign neoplasm of small intestine A benign neoplasm that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl benign small intestine neoplasm|benign tumor of small intestine|small intestine benign neoplasm|benign tumor of the small intestine|benign small intestine tumor|benign neoplasm of the small intestine|benign small intestinal tumor|benign small intestinal neoplasm ICD9:211.2|NCIT:C3600|SCTID:92385005|UMLS:C0153944 owl:Class MONDO:0003452 biolink:NamedThing cochlear disease Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). tmpak2llvmy_mondo_relaxed.owl disease or disorder of cochlea|cochlea disease or disorder|cochlea disease|disease of cochlea|disorder of cochlea DOID:5463|MESH:D015834|UMLS:C0009197 owl:Class MONDO:0018152 biolink:NamedThing serpiginous choroiditis Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. tmpak2llvmy_mondo_relaxed.owl geographic choroiditis|geographic helicoid peripapillary choroidopathy|geographic helicoid peripapillary choroidopathy (GHPC)|serpiginous choroidopathy|peripapillary choriopathy|geographic serpiginous choroiditis GARD:0000031|UMLS:C0729842|SCTID:312491004|ICD9:363.8|ICD10:H30.8|Orphanet:35686 https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis owl:Class MONDO:0019541 biolink:NamedThing non-infectious posterior uveitis tmpak2llvmy_mondo_relaxed.owl non-infectious choroiditis Orphanet:90061|ICD10:H30.0|ICD10:H30.1 owl:Class UBERON:0004796 biolink:NamedThing prostate gland secretion A bodily secretion that is produced by the prostate gland. tmpak2llvmy_mondo_relaxed.owl secretion of prostate gland|secretion of prostate|prostate fluid|prostate secretion|prostatic fluid owl:Class MONDO:0001223 biolink:NamedThing parathyroid gland disease A disease involving the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl disease or disorder of parathyroid gland|parathyroid gland disorder|parathyroid gland disease or disorder|disorder of parathyroid gland|parathyroid gland disease|parathyroid gland diseases|parathyroid disease|parathyroid gland disorders|disease of parathyroid gland|disease of parathyroid glands NCIT:C26844|ICD9:252|EFO:0005754|SCTID:73132005|ICD10:E21.5|MESH:D010279|UMLS:C0030517|ICD9:252.9|DOID:11201|ICD9:252.8 owl:Class MONDO:0015036 biolink:NamedThing lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. tmpak2llvmy_mondo_relaxed.owl SCTID:715820004|UMLS:CN228902|UMLS:C4274992|ICD10:Q04.3|Orphanet:100013 owl:Class MONDO:0019450 biolink:NamedThing lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. tmpak2llvmy_mondo_relaxed.owl LCH UMLS:C4274995|ICD10:Q04.3|Orphanet:86823|SCTID:715817007 owl:Class UBERON:0005215 biolink:NamedThing kidney interstitium The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. tmpak2llvmy_mondo_relaxed.owl renal stroma|interstitial tissue of kidney|renal interstitial tissue|renal interstitium|kidney interstitium group|stroma of kidney owl:Class MONDO:0013189 biolink:NamedThing trichotillomania A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. tmpak2llvmy_mondo_relaxed.owl trichotillomania|TTM GARD:0007803|MESH:D014256|OMIM:613229|DOID:0050587|NCIT:C94336|ICD9:312.39|ICD10:F63.3|SCTID:17155009 owl:Class CHEBI:50312 biolink:NamedThing onium compound tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:37577 biolink:NamedThing heteroatomic molecular entity A molecular entity consisting of two or more chemical elements. tmpak2llvmy_mondo_relaxed.owl chemical compound|heteroatomic molecular entities owl:Class MONDO:0004800 biolink:NamedThing chronic dacryoadenitis Chronic form of dacryoadenitis. tmpak2llvmy_mondo_relaxed.owl dacryoadenitis, chronic SCTID:4760008|ICD10:H04.02|DOID:949|UMLS:C0155224|ICD9:375.02 owl:Class MONDO:0004804 biolink:NamedThing dacryoadenitis Inflammation and enlargement of the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl lacrimal gland inflammation|inflammation of lacrimal gland ICD10:H04.0|DOID:950|NCIT:C26971|ICD9:375.0|UMLS:C0155223|ICD10:H04.00|SCTID:86927009|ICD9:375.00 owl:Class GO:0002830 biolink:NamedThing positive regulation of type 2 immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. tmpak2llvmy_mondo_relaxed.owl upregulation of type 2 immune response|positive regulation of Th2 immune response|positive regulation of T-helper 2 type immune response|up regulation of type 2 immune response|up-regulation of type 2 immune response|stimulation of type 2 immune response|activation of type 2 immune response owl:Class MONDO:0006231 biolink:NamedThing gastrointestinal hamartoma A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps. tmpak2llvmy_mondo_relaxed.owl gastrointestinal hamartoma NCIT:C96475|UMLS:C3272802|EFO:1000280 owl:Class MONDO:0014261 biolink:NamedThing growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in SFXN4|COXPD18|combined oxidative phosphorylation deficiency 18|combined oxidative phosphorylation deficiency type 18|SFXN4 combined oxidative phosphorylation deficiency Orphanet:391348|OMIM:615578|ICD10:E88.8|DOID:0111484|UMLS:C3810001 owl:Class MONDO:0018474 biolink:NamedThing 13q12.3 microdeletion syndrome 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. tmpak2llvmy_mondo_relaxed.owl Del(13)(q12.3)|monosomy 13q12.3 UMLS:CN237459|Orphanet:412035|ICD10:Q93.5 owl:Class MONDO:0019268 biolink:NamedThing epidermal disease A skin disease that involves the epidermis. tmpak2llvmy_mondo_relaxed.owl rare epidermal disease|epidermal disease Orphanet:79353|UMLS:CN205920 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:0006140 biolink:NamedThing regulation of nucleotide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpak2llvmy_mondo_relaxed.owl regulation of nucleotide metabolism owl:Class MONDO:0019648 biolink:NamedThing achondrogenesis Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. tmpak2llvmy_mondo_relaxed.owl GARD:0002882|ICD10:Q77.0|Orphanet:932|MESH:C579878|NCIT:C84527|OMIMPS:200600|UMLS:C0001079|MedDRA:10066122|DOID:0080043|SCTID:2391001 https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis owl:Class ENVO:01001137 biolink:NamedThing ice planet A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice. tmpak2llvmy_mondo_relaxed.owl cryoplanet owl:Class ENVO:01000800 biolink:NamedThing planet A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014590 biolink:NamedThing congenital myasthenic syndrome 18 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|CMS18|SNAP25 congenital myasthenic syndrome|myasthenic syndrome, congenital, 18|congenital myasthenic syndrome caused by mutation in SNAP25|congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, type 18 UMLS:C4225364|OMIM:616330|DOID:0110683 owl:Class MONDO:0020345 biolink:NamedThing presynaptic congenital myasthenic syndrome tmpak2llvmy_mondo_relaxed.owl presynaptic congenital myasthenic syndromes ICD10:G70.2|Orphanet:98914 owl:Class GO:0001649 biolink:NamedThing osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. tmpak2llvmy_mondo_relaxed.owl osteoblast cell differentiation owl:Class MONDO:0009297 biolink:NamedThing familial renal glucosuria Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). tmpak2llvmy_mondo_relaxed.owl GLYS|familial renal glucosuria|renal glucosuria|glycosuria, renal|Glys1|renal diabetes|SGLT2 deficiency|renal glycosuria UMLS:C3245525|MESH:D006030|Orphanet:69076|EFO:1001151|DOID:9432|GARD:0007548|ICD9:271.4|UMLS:C0017980|MedDRA:10038457|SCTID:267430007|OMIM:233100|ICD10:E74.8 https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria owl:Class CL:0002536 biolink:NamedThing epithelial cell of amnion An epithelial cell that is part of the amnion. tmpak2llvmy_mondo_relaxed.owl amniotic epithelial cell tmeehan 2011-02-28T12:38:01Z cell owl:Class MONDO:0001423 biolink:NamedThing drug-induced mental disorder tmpak2llvmy_mondo_relaxed.owl ICD9:292.8|ICD9:292.89|DOID:1203 owl:Class MONDO:0007855 biolink:NamedThing keratosis, familial actinic tmpak2llvmy_mondo_relaxed.owl keratosis, familial actinic MESH:C567190|OMIM:148390|UMLS:C2675099 owl:Class CHEBI:36916 biolink:NamedThing cation A monoatomic or polyatomic species having one or more elementary charges of the proton. tmpak2llvmy_mondo_relaxed.owl cation|Kation|cationes|cations|Cation|Kationen owl:Class CHEBI:24870 biolink:NamedThing ion A molecular entity having a net electric charge. tmpak2llvmy_mondo_relaxed.owl Ionen|Ion|ions|ion|iones owl:Class MONDO:0013352 biolink:NamedThing intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation with language impairment and with or without autistic features|intellectual disability with language impairment and with or without autistic features|FOXP1 related global developmental delay, intellectual disability and speech defects|intellectual disability-severe speech delay-mild dysmorphism syndrome GARD:0012501|EFO:1001500|OMIM:613670|DOID:0111331|Orphanet:391372|UMLS:CN204965|ICD10:Q87.2|UMLS:C3150923 https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome owl:Class MONDO:0010490 biolink:NamedThing SSR4-CDG (Xq28). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation, type Iy|congenital disorder of glycosylation type 1y|CDG1Y|CDG syndrome type Iy|carbohydrate deficient glycoprotein syndrome type Iy|CDG 1Y|CDGIy|CDG Iy|CDG-Iy|congenital disorder of glycosylation type Iy UMLS:C4012395|OMIM:300934|Orphanet:370927|SCTID:733115009|ICD10:E77.8|GARD:0012405|DOID:0070257 owl:Class GO:0098573 biolink:NamedThing intrinsic component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to mitochondrial membrane owl:Class GO:0031224 biolink:NamedThing intrinsic component of membrane The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to membrane owl:Class MONDO:0005091 biolink:NamedThing severe acute respiratory syndrome A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. tmpak2llvmy_mondo_relaxed.owl SARS coronavirus infectious disease|SARS|SARS coronavirus caused disease or disorder|SARS-CoV infection|acute respiratory coronavirus infection|SARS coronavirus disease or disorder GARD:0009237|DOID:2945|MESH:D045169|Orphanet:140896|EFO:0000694|ICD9:079.82|NCIT:C85064|SCTID:398447004|ICD10:U04.9|UMLS:C1175175|MedDRA:10061982|ICD10:J12.81 MONDO:0015370 owl:Class NCBITaxon:53467 biolink:NamedThing Mesocestoides tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53466 biolink:NamedThing Mesocestoididae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044937 biolink:NamedThing rectal carcinoma A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl carcinoma of the rectum|carcinoma of rectum|cancer of rectum|rectum carcinoma|rectal carcinoma|rectal cancer|cancer of the rectum NCIT:C9382 owl:Class MONDO:0024331 biolink:NamedThing colorectal carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl CRC|cancer of the large intestine|cancer of large intestine|carcinoma of large bowel|carcinoma of the large intestine|carcinoma of colorectum|large intestine carcinoma|large intestine cancer|colorectum carcinoma|colorectal carcinoma|cancer of large bowel|colorectal cancer|large bowel cancer|large bowel carcinoma|cancer of the large bowel|carcinoma of large intestine|colorectal (colon or rectal) cancer|carcinoma of the large bowel NCIT:C2955|DOID:0080199|UMLS:CN221574 owl:Class MONDO:0006629 biolink:NamedThing osteoarthritis, hip Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. tmpak2llvmy_mondo_relaxed.owl hip osteoarthritis NCIT:C34876|EFO:1000786|MESH:D015207 owl:Class MONDO:0005178 biolink:NamedThing osteoarthritis A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. tmpak2llvmy_mondo_relaxed.owl osteoarthrosis|osteoarthrosis and allied disorder|degenerative joint disease|hypertrophic arthritis|degenerative arthritis ICD9:715.3|NCIT:C3293|EFO:0002506|UMLS:C0029408|SCTID:396275006|GARD:0011929|MESH:D010003|ICD10:M19|DOID:8398|HP:0002758 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class CHEBI:23132 biolink:NamedThing chlorobenzenes Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:36683 biolink:NamedThing organochlorine compound An organochlorine compound is a compound containing at least one carbon-chlorine bond. tmpak2llvmy_mondo_relaxed.owl organochlorine compounds|organochloride compounds|chloroorganic compounds|organochloride compound|organochlorides|organochloride|an organochlorine molecule|chlororganische Verbindungen|organochlorine compound owl:Class OBO:CHR_9606-chr2p21 biolink:NamedThing chr2p21 (Human) tmpak2llvmy_mondo_relaxed.owl 47500000 41500000 hg38 owl:Class MONDO:0014489 biolink:NamedThing limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. tmpak2llvmy_mondo_relaxed.owl LGMD due to POMK deficiency|muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12|MDDGC12 ICD10:G71.0|UMLS:C4015184|OMIM:616094|Orphanet:445110 owl:Class MONDO:0003543 biolink:NamedThing trigeminal nerve disease A disease involving the trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl trigeminal nerve disease|disorder of trigeminal nerve|trigeminal nerve disorder|disorders of the fifth nerve|trigeminal nerve disease or disorder|disorders of the vth cranial nerve|disease of trigeminal nerve|disorder of the fifth cranial nerve|disease or disorder of trigeminal nerve NCIT:C26952|ICD9:350.8|MESH:D020433|SCTID:64309007|DOID:561 owl:Class MONDO:0100357 biolink:NamedThing non-classic presentation A mild or intermediate form of a genetic disease. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class MONDO:0100355 biolink:NamedThing classic or non-classic genetic disease presentation A classic (severe) or non-classic (mild or intermediate) form of a genetic disease. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class HP:0100502 biolink:NamedThing Vitamin B12 deficiency tmpak2llvmy_mondo_relaxed.owl Vitamin B12 deficiency UMLS:C0042847|SNOMEDCT_US:190634004|MSH:D014806 doelkens 2010-12-17T06:00:43Z human_phenotype owl:Class HP:0040126 biolink:NamedThing Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. tmpak2llvmy_mondo_relaxed.owl Abnormal serum cobalamin level UMLS:C4021032 HPO:skoehler human_phenotype owl:Class HGNC:9388 biolink:NamedThing PRKAR1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007228 biolink:NamedThing vestibular nucleus A cranial nucleus for the vestibular nerve. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vestibular nucleus of acoustic nerve|vestibular nucleus of eighth cranial nerve|vestibular VIII nucleus owl:Class HP:0001259 biolink:NamedThing Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. tmpak2llvmy_mondo_relaxed.owl Coma MSH:D003128|UMLS:C0009421|SNOMEDCT_US:371632003|ICD-10:R40.2 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. human_phenotype owl:Class HP:0004372 biolink:NamedThing Reduced consciousness/confusion tmpak2llvmy_mondo_relaxed.owl Disturbances of consciousness|Reduced consciousness/confusion|Lowered consciousness SNOMEDCT_US:3006004|UMLS:C0234428 peter 2008-03-18T07:12:00Z human_phenotype owl:Class MONDO:0002571 biolink:NamedThing primary central nervous system lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl primary brain lymphoma|malignant lymphomas of CNS|central nervous system lymphoma|CNS lymphoma|malignant lymphomas of the CNS|PCNSL|primary central nervous system lymphoma|primary CNS lymphoma|microglioma|primary lymphoma, CNS|lymphoma of central nervous system Orphanet:46135|GARD:0009318|ICD10:C83.3|ONCOTREE:PCNSL|EFO:1000157|ICD9:200.5|NCIT:C9301|SCTID:307649006|MedDRA:10036685|UMLS:C0742472|DOID:3234 MONDO:0018732 owl:Class MONDO:0017343 biolink:NamedThing Epstein-Barr virus-associated malignant lymphoproliferative disorder tmpak2llvmy_mondo_relaxed.owl EBV-associated lymphoproliferative disorder MedDRA:10068349|Orphanet:289644|UMLS:C2363744 the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV owl:Class MONDO:0018127 biolink:NamedThing 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). tmpak2llvmy_mondo_relaxed.owl monosomy 16q24.1|Del(16)(q24.1) ICD10:Q93.5|Orphanet:352629|UMLS:CN204505 owl:Class MONDO:0016914 biolink:NamedThing partial deletion of the long arm of chromosome 16 tmpak2llvmy_mondo_relaxed.owl partial deletion of the long arm of chromosome type 16|partial monosomy of chromosome 16q|partial deletion of chromosome 16q|partial monosomy of the long arm of chromosome 16 ICD10:Q93.5|Orphanet:262128 owl:Class UBERON:0003302 biolink:NamedThing roof plate of metencephalon A roof plate that is part of a metencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl roof plate of epencephalon-2|roofplate of metencephalon|metencephalon roofplate|roofplate of epencephalon-2|epencephalon-2 roof plate|metencephalon roof plate|roof plate metencephalon|epencephalon-2 roofplate|roofplate medulla metencephalon owl:Class MONDO:0010505 biolink:NamedThing intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. tmpak2llvmy_mondo_relaxed.owl SCHOLTE syndrome|early balding, patella luxation, acromicria and hypogonadism|Scholte syndrome|SHLTS|Scholte-Begeer-van Essen syndrome|early balding, patella luxation, acromicria, and hypogonadism OMIM:300977|GARD:0000257|UMLS:C1866985|SCTID:722002002|ICD10:Q87.8|OMIM:181515|Orphanet:3041|MESH:C536638 owl:Class MONDO:0014121 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures tmpak2llvmy_mondo_relaxed.owl Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|SMALED2|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant ICD10:G12.1|Orphanet:363454|UMLS:C3809049|GARD:0013222|OMIM:615290 owl:Class MONDO:0018190 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy tmpak2llvmy_mondo_relaxed.owl SMALED|spinal muscular atrophy, lower extremity-predominant|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy UMLS:CN227282|Orphanet:363447|ICD10:G12.1|OMIMPS:158600 owl:Class MONDO:0019453 biolink:NamedThing refractory cytopenia with multilineage dysplasia Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. tmpak2llvmy_mondo_relaxed.owl refractory cytopenia with multilineage dysplasia|myelodysplastic syndrome with multilineage dysplasia|RCMD|MDS-MLD ICD10:D46.7|UMLS:C0796466|ICDO:9985/3|NCIT:C8574|SCTID:415285009|MedDRA:10067959|Orphanet:86836|ICD9:238.72|ICD10:D46.A owl:Class MONDO:0018881 biolink:NamedThing myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl dysmyelopoietic syndrome|myelodysplastic syndrome|MDS|myelodysplastic syndrome/neoplasm|oligoblastic leukemia|preleukemia|myelodysplastic syndromes|myelodysplastic syndrome, susceptibility to|myelodysplasia|hematopoeitic - myelodysplastic syndrome (MDS)|smoldering leukemia|myelodysplastic neoplasm GARD:0007132|OMIM:614286|Orphanet:52688|ICD9:238.7|ONCOTREE:MDS|ICDO:9989/3|UMLS:C0033027|SCTID:109995007|MedDRA:10028532|UMLS:C3463824|NCIT:C3247|EFO:0000198|ICD9:238.75|DOID:0050908 owl:Class HGNC:18758 biolink:NamedThing BBS7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009568 biolink:NamedThing trunk region of vertebral column Subdivision of vertebral column that corresponds to the trunk of the body, containing the trunk/presacral vertebrae. In organisms that have a thoracic and lumbar distinction, this corresponds to the sum of both of these regions. tmpak2llvmy_mondo_relaxed.owl thoracolumbar region of vertebral column|thoracolumbar vertebral column|thoracolumbar region|trunk skeleton|trunk spine|thoracolumbar column|presacral region|trunk vertebrae series|trunk vertebral column|thoracolumbar vertebrae set|trunk region owl:Class UBERON:0006077 biolink:NamedThing subdivision of vertebral column A collection of all skeletal elements in some subdivision of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral column subdivision|vertebral region|vertebrae series|vertebral series|vertebral subdivision|subdivision of vertebral skeleton owl:Class MONDO:0001594 biolink:NamedThing Achilles bursitis An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. tmpak2llvmy_mondo_relaxed.owl Haglund's deformity|Achilles bursitis or tendinitis|Haglund's disease|capped hock DOID:12857|ICD10:M76.6|ICD9:726.71|UMLS:C0149846 owl:Class GO:0070256 biolink:NamedThing negative regulation of mucus secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl negative regulation of mucus production owl:Class GO:0070255 biolink:NamedThing regulation of mucus secretion Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl regulation of mucus production owl:Class UBERON:0004987 biolink:NamedThing mucosa of laryngopharynx A mucosa that is part of a hypopharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl laryngopharynx mucosa|laryngopharynx organ mucosa|organ mucosa of laryngeal pharynx|mucous membrane of laryngopharynx|mucosa of hypopharynx|mucosa of laryngeal pharynx|hypopharynx organ mucosa|laryngeal pharynx organ mucosa|mucosa of organ of hypopharynx|laryngopharynx mucous membrane|hypopharynx mucosa|hypopharynx mucosa of organ|mucous membrane of laryngeal pharynx|hypopharynx mucous membrane|laryngeal pharynx mucous membrane|laryngeal pharynx mucosa|mucosa of organ of laryngeal pharynx|mucous membrane of hypopharynx|organ mucosa of laryngopharynx|laryngeal pharynx mucosa of organ|organ mucosa of hypopharynx|mucosa of organ of laryngopharynx|laryngopharynx mucosa of organ owl:Class MONDO:0005813 biolink:NamedThing interdigitating dendritic cell sarcoma A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl interdigitating Dendritic cell sarcoma/tumor|interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma/tumor ICDO:9757/1|NCIT:C9282|EFO:0007329|ONCOTREE:IDCS|ICDO:9757/3|ICD10:C96.4|SCTID:715664005|DOID:7848|MESH:D054739 owl:Class GO:2001222 biolink:NamedThing regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration. tmpak2llvmy_mondo_relaxed.owl regulation of neuronal migration|regulation of neuron guidance|regulation of neuron chemotaxis owl:Class MONDO:0021179 biolink:NamedThing proteostasis deficiencies Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. tmpak2llvmy_mondo_relaxed.owl dysfunctions, Proteostasis|proteopathy|folding diseases, Protein|deficiencies, Proteostasis|Misfolding disorders, Protein|disease, Protein Misfolding|Protein Misfolding diseases|proteinopathy|diseases, Protein Misfolding|Proteostasis dysfunctions|Proteostasis deficiency|proteopathic disease|Protein folding disease|disorder, Protein Misfolding|folding disorder, Protein|Proteostasis dysfunction|disorder, Protein folding|Protein folding diseases|Misfolding diseases, Protein|Misfolding disease, Protein|disorders, Protein folding|Protein folding disorders|dysfunction, Proteostasis|disease, Protein folding|folding disorders, Protein|Protein Misfolding disorders|disorders, Protein Misfolding|diseases, Protein folding|Protein Misfolding disease|folding disease, Protein|Protein Misfolding disorder|Misfolding disorder, Protein|Protein folding disorder|deficiency, Proteostasis UMLS:C2718001|MESH:D057165 owl:Class MONDO:0008009 biolink:NamedThing monilethrix Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. tmpak2llvmy_mondo_relaxed.owl monilethrix|MNLIX|nodose hair|moniliform hair syndrome NCIT:C84894|ICD10:Q84.1|MESH:D056734|GARD:0000093|UMLS:C0546966|DOID:0050472|SCTID:69488000|OMIM:158000|Orphanet:573 https://rarediseases.info.nih.gov/diseases/93/monilethrix owl:Class MONDO:0002939 biolink:NamedThing skin pigmented basal cell carcinoma A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002. tmpak2llvmy_mondo_relaxed.owl skin pigmented basal cell carcinoma|pigmented basal cell carcinoma NCIT:C9359|SCTID:403909004|UMLS:C1368275|DOID:4282 owl:Class MONDO:0007306 biolink:NamedThing Klippel-Feil syndrome 1, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. tmpak2llvmy_mondo_relaxed.owl Klippel-FEIL syndrome 1, autosomal dominant|KFS1|Kfs|cervical vertebral fusion, autosomal dominant|GDF6 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF6|Klippel-Feil syndrome 1, autosomal dominant DOID:0080589|MESH:C536887|OMIM:118100|UMLS:C1861689 owl:Class MONDO:0016520 biolink:NamedThing isolated Klippel-Feil syndrome Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. tmpak2llvmy_mondo_relaxed.owl congenital cervical vertebral fusion|congenital fused cervical segments|Klippel-Feil sequence|Klippel-Feil malformation|nonsyndromic Klippel-Feil syndrome ICD10:Q76.1|Orphanet:2345 owl:Class MONDO:0016209 biolink:NamedThing benign familial nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. tmpak2llvmy_mondo_relaxed.owl benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood Orphanet:209973|UMLS:CN226880 owl:Class MONDO:0016210 biolink:NamedThing alternating hemiplegia tmpak2llvmy_mondo_relaxed.owl Orphanet:209978|SCTID:404689008 owl:Class MONDO:0005594 biolink:NamedThing severe cutaneous adverse reaction A permanent mark left on the skin in the process of wound healing. tmpak2llvmy_mondo_relaxed.owl SCAR|Scar|scarring SCTID:275322007|NCIT:C34483|EFO:0006346|MedDRA:20000020 owl:Class GO:0070875 biolink:NamedThing positive regulation of glycogen metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpak2llvmy_mondo_relaxed.owl positive regulation of glycogen metabolism owl:Class MONDO:0018511 biolink:NamedThing epithelial tumor of the appendix A epithelial neoplasm that involves the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendiceal epithelial tumor|vermiform appendix epithelial neoplasm UMLS:CN237516|Orphanet:423982 owl:Class MONDO:0001236 biolink:NamedThing appendiceal neoplasm A benign or malignant neoplasm involving the appendix. tmpak2llvmy_mondo_relaxed.owl appendix tumor|tumor of the appendix|neoplasm of the appendix|vermiform appendix tumor|tumor of vermiform appendix|vermiform appendix neoplasm|neoplasm of vermiform appendix|tumor of appendix|vermiform appendix neoplasm (disease)|neoplasm of appendix|appendix neoplasm EFO:0003880|DOID:11240|UMLS:C0003614|MESH:D001063|SCTID:126846004|NCIT:C4434 owl:Class GO:2000843 biolink:NamedThing regulation of testosterone secretion Any process that modulates the frequency, rate or extent of testosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0017171 biolink:NamedThing serine hydrolase activity Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016787 biolink:NamedThing hydrolase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010527 biolink:NamedThing microphthalmia-ankyloblepharon-intellectual disability syndrome Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. tmpak2llvmy_mondo_relaxed.owl microphthalmia, syndromic 4|microphthalmia syndromic 4|Anop1, formerly|syndromic microphthalmia type 4|Anop1|microphthalmia with ankyloblepharon and intellectual disability|MCOPS4|microphthalmia with ankyloblepharon and mental retardation 2021-01-01 Orphanet:85275|OMIM:301590|GARD:0005066|MESH:C564457|SCTID:717222003|ICD10:Q11.2 Reason: duplicate. This will be merged with MONDO:0010671 microphthalmia, syndromic 1 https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 owl:Class HGNC:30391 biolink:NamedThing IFT172 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002419 biolink:NamedThing skin gland A gland that is part of a skin of body [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of skin glands|glandulae cutis|skin glands|skin glands set owl:Class UBERON:0006003 biolink:NamedThing integumentary adnexa Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. tmpak2llvmy_mondo_relaxed.owl adnexae cutis|skin adnexal structure|body hair or bristle|skin adnexa|skin appendage owl:Class CHEBI:35523 biolink:NamedThing bronchodilator agent An agent that causes an increase in the expansion of a bronchus or bronchial tubes. tmpak2llvmy_mondo_relaxed.owl bronchodilator|broncholytic agent|bronchodilator agents owl:Class GO:0045834 biolink:NamedThing positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpak2llvmy_mondo_relaxed.owl upregulation of lipid metabolic process|up regulation of lipid metabolic process|activation of lipid metabolic process|up-regulation of lipid metabolic process|stimulation of lipid metabolic process|positive regulation of lipid metabolism owl:Class GO:0019216 biolink:NamedThing regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpak2llvmy_mondo_relaxed.owl regulation of lipid metabolism owl:Class MONDO:0015034 biolink:NamedThing lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN228900|Orphanet:100011 owl:Class UBERON:0004178 biolink:NamedThing aorta smooth muscle tissue the nonstriated, involuntary muscle tissue located in the wall of the aorta tmpak2llvmy_mondo_relaxed.owl aorta non-striated muscle|aortic smooth muscle|aorta smooth muscle owl:Class UBERON:0004237 biolink:NamedThing blood vessel smooth muscle smooth muscle found within, and composing the majority of the wall of blood vessels. tmpak2llvmy_mondo_relaxed.owl non-striated muscle of blood vessel|vascular smooth muscle|smooth muscle tissue of blood vessel|involuntary muscle of blood vessel|smooth muscle of blood vessel|blood vessel smooth muscle tissue|vascular smooth muscle tissue|blood vessel involuntary muscle|blood vessel non-striated muscle owl:Class MONDO:0016484 biolink:NamedThing Usher syndrome type 2 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. tmpak2llvmy_mondo_relaxed.owl Usher syndrome type 2|USH2 DOID:0110827|SCTID:232058008|ICD10:H35.5|NCIT:C126328|UMLS:C0339534|Orphanet:231178 owl:Class MONDO:0019501 biolink:NamedThing Usher syndrome Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. tmpak2llvmy_mondo_relaxed.owl deafness-retinitis pigmentosa syndrome|dystrophia retinae pigmentosa-dysostosis syndrome|Graefe-Usher syndrome|ush|Usher's syndrome|retinitis pigmentosa-deafness syndrome|Hallgren syndrome UMLS:C0271097|GARD:0007843|Orphanet:886|NCIT:C85217|ICD10:H35.5|OMIMPS:276900|MedDRA:10063396|DOID:0050439|MESH:D052245 owl:Class UBERON:0001646 biolink:NamedThing abducens nerve Cranial nerve that runs to the eye muscles. tmpak2llvmy_mondo_relaxed.owl abducent nerve [VI]|nervus abducens [VI]|abducens VI nerve|nervus abducens|sixth cranial nerve|lateral rectus nerve|CN-VI|abducents VI nerve|nerve VI|cranial nerve VI|6n|abducens nerve tree|abducent nerve|abducens nerve/root|abducens nerve [VI] owl:Class UBERON:0035498 biolink:NamedThing gastrophrenic ligament the portion of the greater omentum that extends from the greater curvature of the stomach to the inferior surface of the diaphragm tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016690 biolink:NamedThing pleomorphic xanthoastrocytoma A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. tmpak2llvmy_mondo_relaxed.owl pleomorphic Xantho-astrocytoma|PXA Orphanet:251607|DOID:4852|ICD10:C71.9|ICDO:9424/3|GARD:0010631|UMLS:C0334586|NCIT:C4323|ONCOTREE:PXA|ICD10:C79.1 https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma owl:Class MONDO:0016685 biolink:NamedThing low-grade astrocytoma tmpak2llvmy_mondo_relaxed.owl Orphanet:251592|MedDRA:10065869 owl:Class MONDO:0013459 biolink:NamedThing osteogenesis imperfecta type 10 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene. tmpak2llvmy_mondo_relaxed.owl OI type 10|osteogenesis imperfecta, type 10|osteogenesis imperfecta caused by mutation in SERPINH1|SERPINH1 osteogenesis imperfecta|OI type X|osteogenesis imperfecta, type X|OI10|osteogenesis imperfecta type X|OI, type 10 ICD10:Q78.0|DOID:0110346|UMLS:C3151211|OMIM:613848|GARD:0012874 owl:Class UBERON:0003601 biolink:NamedThing neck cartilage A cartilage that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cartilage of neck (volume)|cartilage of neck|neck (volume) cartilage owl:Class MONDO:0011879 biolink:NamedThing neuronopathy, distal hereditary motor, type 7B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. tmpak2llvmy_mondo_relaxed.owl neuronopathy, distal hereditary motor caused by mutation in DCTN1|neuronopathy, distal hereditary motor, type VIIB|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|HMN7B|HMN 7B|Lower motor neuron disease, dynactin type|DCTN1 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, type 7B|Dhmn7B UMLS:C1843315|DOID:0111202|OMIM:607641|MESH:C564362 owl:Class MONDO:0015355 biolink:NamedThing distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. tmpak2llvmy_mondo_relaxed.owl dHMN7|distal spinal muscular atrophy with vocal cord paralysis Orphanet:139589|ICD10:G12.2|UMLS:CN199425|DOID:0111199 owl:Class UBERON:0006192 biolink:NamedThing mesonephric proximal tubule The mesonephric proximal tubule extends from the capsule to the distal tubule tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003328 biolink:NamedThing fallopian tube adenomatoid tumor A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. tmpak2llvmy_mondo_relaxed.owl fallopian tube adenomatoid tumor UMLS:C1517110|NCIT:C40129|DOID:5196 owl:Class HGNC:25839 biolink:NamedThing GRHL3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003325 biolink:NamedThing mesenchyme of pinna Mesenchyme that is part of a developing pinna [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of auricula (auris externa)|auricle mesenchyme|pinna mesenchyme|mesenchyme of auricula|mesenchyme of auricle|auricula mesenchyme|mesenchyme of pinna of ear|auricle of ear mesenchyme|mesenchyme of auricle of ear|pinna of ear mesenchyme|auricula (auris externa) mesenchyme|auricle of external ear mesenchyme|mesenchyme of auricle of external ear owl:Class GO:0045095 biolink:NamedThing keratin filament A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins. tmpak2llvmy_mondo_relaxed.owl acidic keratin|basic/neutral keratin owl:Class GO:0005882 biolink:NamedThing intermediate filament A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. tmpak2llvmy_mondo_relaxed.owl type I intermediate filament associated protein|intermediate filament associated protein|type II intermediate filament associated protein owl:Class OBO:CHR_9606-chr1q44 biolink:NamedThing chr1q44 (Human) tmpak2llvmy_mondo_relaxed.owl 248956422 243500000 hg38 owl:Class UBERON:0005004 biolink:NamedThing mucosa of right ureter A mucosa that is part of a right ureter [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right ureter mucosa of organ|right ureter organ mucosa|right ureteral mucosa|right ureter mucosa|mucous membrane of right ureter|organ mucosa of right ureter|mucosa of organ of right ureter|right ureter mucous membrane owl:Class UBERON:0004980 biolink:NamedThing mucosa of ureter A mucosa that is part of a ureter [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of ureter|tunica mucosa (ureter)|ureteric mucosa|mucosal layer of ureter|mucous membrane of ureter|tunica mucosa ureteris|ureter mucosa of organ|mucosa of organ of ureter|ureteral mucosa|ureter mucosa|ureter organ mucosa|ureter mucous membrane owl:Class MONDO:0002632 biolink:NamedThing metachronous osteosarcoma of the bone A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. tmpak2llvmy_mondo_relaxed.owl metachronous osteosarcoma of the bone|metachronous osteosarcoma DOID:3379|UMLS:C1334704|NCIT:C38157 owl:Class MONDO:0002629 biolink:NamedThing bone osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. tmpak2llvmy_mondo_relaxed.owl primary osteosarcoma of bone|bone osteosarcoma|osteosarcoma of bone ICD9:170.9|DOID:3376|OMIM:259500|SCTID:307576001|Orphanet:668|MESH:D012516|MedDRA:10031291|GARD:0007284|NCIT:C53707|ICD10:C41.9 owl:Class HGNC:9277 biolink:NamedThing PPM1D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015538 biolink:NamedThing indeterminate dendritic cell tumor A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable. tmpak2llvmy_mondo_relaxed.owl indeterminate Dendritic cell tumor|indeterminate dendritic cell tumor|indeterminate cell histiocytosis|IDCT ICD10:D76.3|SCTID:721313009|Orphanet:158019|ONCOTREE:IDCT|UMLS:C2825741|NCIT:C81767 owl:Class MONDO:0006247 biolink:NamedThing histiocytic and dendritic cell neoplasm Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl histiocytic and Dendritic cell tumors|histiocytic and dendritic cell neoplasm|histiocytic and dendritic cell|histiocytic and dendritic cell tumor|histiocytic and dendritic cell cancer|histiocytic and Dendritic cell neoplasms Orphanet:98287|DOID:5621|EFO:1000297|UMLS:CN206982|UMLS:C1334030|NCIT:C9294 owl:Class GO:0045664 biolink:NamedThing regulation of neuron differentiation Any process that modulates the frequency, rate or extent of neuron differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045595 biolink:NamedThing regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021128 biolink:NamedThing has an isolated presentation An characteristic of a disease in which the disease is manifested as an isolated feature. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021126 biolink:NamedThing syndromic or isolated An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001068 biolink:NamedThing skin of back A zone of skin that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of back|skin, dorsal region|back skin|back zone of skin owl:Class MONDO:0015727 biolink:NamedThing mosaic trisomy 15 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy type 15|trisomy 15 mosaicism|Mosaic trisomy chromosome 15|chromosome 15, trisomy mosaicism UMLS:CN035788|MESH:C538037|Orphanet:1706|ICD10:Q92.1|SCTID:764619001|GARD:0005313 owl:Class MONDO:0015951 biolink:NamedThing hereditary photodermatosis Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. tmpak2llvmy_mondo_relaxed.owl genetic skin photosensitivity|photogénodermatose|genetic photosensitivity|photogenodermatosis Orphanet:183490 owl:Class MONDO:0004693 biolink:NamedThing squamous carcinoma in situ A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues. tmpak2llvmy_mondo_relaxed.owl severe dysplasia of the cervix uteri|intraepithelial squamous cell carcinoma|stage 0 squamous cell carcinoma|squamous carcinoma in situ|squamous cell carcinoma in situ|grade 3 SIN|grade 3 squamous intraepithelial neoplasia|CIN III - severe dyskaryosis|stage 0 uterine cervix carcinoma|grade III squamous intraepithelial neoplasia|epidermoid carcinoma in situ|CIN III|severe dysplasia of cervix|carcinoma, squamous cell, in situ, malignant|CIN III - carcinoma in situ of cervix|carcinoma in situ of uterine cervix|epidermoid cell carcinoma in situ|squamous cell carcinoma in-situ|carcinoma in situ of cervix|uterine cervix in situ carcinoma|grade III SIN|cervix Ca in situ|squamous intraepithelial neoplasia, grade III|cervical intraepithelial neoplasia grade III with severe dysplasia ICDO:8070/2|UMLS:C0334245|NCIT:C27093|ICDO:8077/2 owl:Class HGNC:12592 biolink:NamedThing UROS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011958 biolink:NamedThing bile and pancreatic ducts, complete absence of tmpak2llvmy_mondo_relaxed.owl bile and pancreatic ducts, complete absence of OMIM:608063|MESH:C564298 owl:Class MONDO:0025667 biolink:NamedThing limbal stem cell deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:C1561989|Orphanet:171673 owl:Class MONDO:0000942 biolink:NamedThing corneal disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl disorder of cornea|corneal disorder|corneal disease|cornea disease or disorder|disease of cornea|disease or disorder of cornea|cornea disease ICD9:371.30|ICD9:371.9|MESH:D003316|UMLS:C0010034|SCTID:15250008|DOID:10124|ICD9:371.89|ICD10:H18.9|NCIT:C26731 owl:Class MONDO:0010179 biolink:NamedThing isolated right ventricular hypoplasia Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. tmpak2llvmy_mondo_relaxed.owl hypoplasia of the right ventricle|right ventricular hypoplasia, isolated|Irvh|isolated hypoplasia of the right ventricle|right ventricle hypoplasia|right ventricular hypoplasia Orphanet:439|UMLS:C1848587|MESH:C535682|SCTID:718135001|ICD10:Q22.6|GARD:0004721|OMIM:277200 owl:Class CHEBI:33671 biolink:NamedThing heteropolycyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. tmpak2llvmy_mondo_relaxed.owl polyheterocyclic compounds|heteropolycyclic compounds owl:Class CHEBI:5686 biolink:NamedThing heterocyclic compound A cyclic compound having as ring members atoms of at least two different elements. tmpak2llvmy_mondo_relaxed.owl compuestos heterociclicos|heterocycle|Heterocyclic compound|heterocyclic compounds|compuesto heterociclico owl:Class MONDO:0020813 biolink:NamedThing benign testicular sertoli cell tumor A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. tmpak2llvmy_mondo_relaxed.owl benign sertoli cell tumor of the testis|benign sertoli cell neoplasm of testis|benign sertoli cell neoplasm of the testis|benign testicular sertoli cell neoplasm|benign sertoli cell tumor of testis|benign testicular sertoli cell tumor NCIT:C6522 owl:Class MONDO:0020809 biolink:NamedThing benign sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site. tmpak2llvmy_mondo_relaxed.owl Benign Androblastoma|SERTOLI CELL TUMOR, BENIGN|Benign Sertoli Cell Tumor ICDO:8630/0|NCIT:C67012 owl:Class CHEBI:35297 biolink:NamedThing acene A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. tmpak2llvmy_mondo_relaxed.owl Azen|polyacenes|acenes|Acen|acene owl:Class CHEBI:35296 biolink:NamedThing ortho-fused polycyclic arene tmpak2llvmy_mondo_relaxed.owl ortho-fused polycyclic arenes owl:Class MONDO:0008736 biolink:NamedThing peroxisome biogenesis disorder 2B tmpak2llvmy_mondo_relaxed.owl PBD2B|peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B UMLS:C3550234|DOID:0080622|OMIM:202370 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100262 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX5 defect|PEX5 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:523089 biolink:NamedThing Haemaphysalis concinna tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34622 biolink:NamedThing Haemaphysalis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003359 biolink:NamedThing epithelium of submandibular gland An epithelium that is part of a submandibular gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submandibular gland epithelial tissue|submandibular duct epithelium|submandibular gland epithelium|epithelial tissue of submandibular gland|submandibular gland duct epithelium|submaxillary gland epithelium owl:Class MONDO:0044350 biolink:NamedThing hyperparathyroidism, primary, caused by water clear cell hyperplasia tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism, primary, caused by water clear cell hyperplasia OMIM:600166|MESH:C563982 owl:Class MONDO:0020524 biolink:NamedThing primary parathyroid hyperplasia tmpak2llvmy_mondo_relaxed.owl familial parathyroids hyperplasia|hereditary parathyroids hyperplasia ICD10:E21.0|Orphanet:99878 owl:Class HGNC:20577 biolink:NamedThing CYP26C1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014215 biolink:NamedThing primary ciliary dyskinesia 27 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. tmpak2llvmy_mondo_relaxed.owl CILD27|primary ciliary dyskinesia type 27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia 27 without situs inversus|ciliary dyskinesia, primary, 27|ciliary dyskinesia, primary, type 27|ciliary dyskinesia, primary, 27, without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC65 OMIM:615504|ICD10:Q34.8|UMLS:C3809701|DOID:0110611 owl:Class GO:0000003 biolink:NamedThing reproduction The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. tmpak2llvmy_mondo_relaxed.owl reproductive physiological process owl:Class GO:0008150 biolink:NamedThing biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. tmpak2llvmy_mondo_relaxed.owl single-organism process|biological process|single organism process|physiological process owl:Class MONDO:0025102 biolink:NamedThing monkey disease Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). tmpak2llvmy_mondo_relaxed.owl diseases, monkey|disease, monkey|monkey disease MESH:D008992 owl:Class MONDO:0025013 biolink:NamedThing non-human primate disease Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini. tmpak2llvmy_mondo_relaxed.owl Primate disease|diseases, Primate|disease, Primate MESH:D018419|UMLS:C0242634 owl:Class HGNC:21498 biolink:NamedThing ATG16L1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000531 biolink:NamedThing primary sensory neuron tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000530 biolink:NamedThing primary neuron tmpak2llvmy_mondo_relaxed.owl cell owl:Class ECTO:7000070 biolink:NamedThing exposure to snow A exposure event involving the interaction of an exposure receptor to snow. tmpak2llvmy_mondo_relaxed.owl snow exposure owl:Class ECTO:0000015 biolink:NamedThing exposure to environmental material A exposure event involving the interaction of an exposure receptor to environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material exposure owl:Class MONDO:0017580 biolink:NamedThing 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. tmpak2llvmy_mondo_relaxed.owl dup(11)p(15.4)|trisomy 11p15.4 ICD10:Q92.3|UMLS:CN203376|Orphanet:300305 owl:Class UBERON:0004383 biolink:NamedThing epiphysis of tibia An epiphysis that is part of a tibia [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tibial epiphysis owl:Class PATO:0002300 biolink:NamedThing increased quality A quality that has a value that is increased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021244 biolink:NamedThing submandibular gland neoplasm A neoplasm (disease) that involves the submandibular gland. tmpak2llvmy_mondo_relaxed.owl tumor of the submandibular gland|neoplasm of the submandibular gland|neoplasm of submandibular gland|submandibular gland neoplasm (disease)|tumor of submandibular gland|submandibular gland tumor EFO:1001853|UMLS:C0038558|NCIT:C3393|SCTID:254464000|MESH:D013365 owl:Class MONDO:0021368 biolink:NamedThing neoplasm of major salivary gland A neoplasm (disease) that involves the major salivary gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of major salivary gland|tumor of Major salivary gland|tumor of major salivary gland|major salivary gland neoplasm|tumor of the Major salivary gland|major salivary gland neoplasm (disease)|major salivary gland tumor|neoplasm of the Major salivary gland UMLS:C0345599|NCIT:C4407|SCTID:126787005 owl:Class MONDO:0006573 biolink:NamedThing lipodystrophy A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. tmpak2llvmy_mondo_relaxed.owl lipodsystrophic syndrome|lipodystrophy (disease)|lipodsystrophic syndromes|lipodystrophy lipodystrophy (disease) DOID:811|MESH:D008060|Wikipedia:Lipodystrophy|ICD10:E88.1|ICD9:272.6|HP:0009125|UMLS:C0023787|NCIT:C97093|EFO:1000727|SCTID:71325002 owl:Class UBERON:0018151 biolink:NamedThing skin of upper lip A zone of skin that is part of a upper lip. tmpak2llvmy_mondo_relaxed.owl upper lip skin owl:Class GO:0016052 biolink:NamedThing carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpak2llvmy_mondo_relaxed.owl catabolic carbohydrate metabolism|single-organism carbohydrate catabolic process|carbohydrate breakdown|carbohydrate degradation|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|catabolic carbohydrate metabolic process owl:Class GO:1901575 biolink:NamedThing organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. tmpak2llvmy_mondo_relaxed.owl organic molecular entity degradation|organic molecular entity catabolism|organic substance degradation|organic substance catabolism|organic molecular entity breakdown|organic substance breakdown|organic molecular entity catabolic process owl:Class MONDO:0003168 biolink:NamedThing cerebellar pilocytic astrocytoma A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl pilocytic astrocytoma of the cerebellum|cerebellum pilocytic astrocytoma|cerebellar pilocytic astrocytoma|pilocytic astrocytoma of cerebellum NCIT:C6809|DOID:4853|UMLS:C0349620|SCTID:277507004 owl:Class MONDO:0009525 biolink:NamedThing split hand-foot malformation 3 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation 3|limb deficiencies distal with micrognathia|10q24 microduplication syndrome|split-hand/foot malformation type 3|chromosome 10Q24 Duplication syndrome|split hand-foot malformation 3|Buttiens-Fryns syndrome|distal limb deficiencies-micrognathia syndrome|split hand-foot malformation type 3|distal limb deficiencies with micrognathia|chromosome 10q24 duplication syndrome|SHFM3|Shsf3|Buttiens Fryns syndrome|limb deficiencies, distal, with micrognathia SCTID:722429003|ICD10:Q92.3|GARD:0003252|OMIM:246560|NCIT:C75121|DOID:0090025|MESH:C565437|Orphanet:1307|ICD10:Q71.6 https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia owl:Class MONDO:0032745 biolink:NamedThing developmental delay with variable intellectual impairment and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl DDVIBA|DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|developmental delay with variable intellectual impairment and behavioral abnormalities OMIM:618430 owl:Class MONDO:0005968 biolink:NamedThing sporotrichosis The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. tmpak2llvmy_mondo_relaxed.owl rose gardener's disease ICD10:B42.9|ICD10:B42|MedDRA:10041736|ICD10:B42.7|GARD:0007692|ICD9:117.1|Orphanet:826|MESH:D013174|ICD10:B42.0|UMLS:C0038034|EFO:0007494|ICD10:B42.8|SCTID:42094007|DOID:14484|ICD10:B42.1 https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis owl:Class MONDO:0002041 biolink:NamedThing fungal infectious disease An infection caused by a fungus. tmpak2llvmy_mondo_relaxed.owl mycosis|Fungi caused disease or disorder|mycoses|infections, Fungi|fungal infection|Fungi infection|Fungi disease or disorder|Fungi infectious disease|infection, fungal ICD10:B35.B49|SCTID:3218000|MESH:D009181|NCIT:C3245|ICD10:B35-B49|ICD10:B49|DOID:1564|ICD9:117.9|ICD9:110-118.99 owl:Class MONDO:0019009 biolink:NamedThing isolated focal cortical dysplasia Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. tmpak2llvmy_mondo_relaxed.owl epilepsy due to FCD Orphanet:65683|SCTID:766710005|ICD10:Q04.8 owl:Class MONDO:0017094 biolink:NamedThing cerebral cortical dysplasia Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. tmpak2llvmy_mondo_relaxed.owl cortical dysplasia|brain cortical dysplasia ICD10:Q04.8|MESH:D054220|Orphanet:268950|NCIT:C42088|SCTID:253153000 owl:Class MONDO:0009586 biolink:NamedThing mesangial sclerosis, diffuse renal, with ocular abnormalities tmpak2llvmy_mondo_relaxed.owl mesangial sclerosis, diffuse renal, with ocular abnormalities MESH:C565405|UMLS:C1855282|OMIM:249660 owl:Class MONDO:0024582 biolink:NamedThing male reproductive system neoplasm A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpak2llvmy_mondo_relaxed.owl male reproductive organ neoplasm|Male reproductive system neoplasm|neoplasm of the Male reproductive system|neoplasm of Male reproductive system|tumor of Male reproductive system|male reproductive organ tumor|Male reproductive system tumor|tumor of the Male reproductive system|neoplasm of male reproductive organ|tumor of male reproductive organ SCTID:126895004|ICD9:239.5|NCIT:C3054 owl:Class MONDO:0011122 biolink:NamedThing obesity disorder A disorder involving an excessive amount of body fat. tmpak2llvmy_mondo_relaxed.owl obesity disease|obesity UMLS:C0028754|ICD9:278.00|SCTID:414916001|NCIT:C3283|DOID:9970|EFO:0001073|ICD10:E66.9|ICD9:278.0|HP:0001513|NIFSTD:nlx_dys_20090302 Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes owl:Class MONDO:0015793 biolink:NamedThing moderate multiminicore disease with hand involvement tmpak2llvmy_mondo_relaxed.owl UMLS:C1861753|Orphanet:178145|ICD10:G71.2 owl:Class MONDO:0018948 biolink:NamedThing multiminicore myopathy Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. tmpak2llvmy_mondo_relaxed.owl multiminicore disease|MmD|multicore disease|multicore myopathy GARD:0009130|UMLS:C0270962|Orphanet:598|ICD10:G71.2|SCTID:55133004 owl:Class MONDO:0006796 biolink:NamedThing hypertensive encephalopathy Encephalopathy resulting from hypertension. tmpak2llvmy_mondo_relaxed.owl ICD9:437.2|SCTID:50490005|MESH:D020343|EFO:1000976|DOID:9427|MedDRA:10020803|UMLS:C0151620|ICD10:I67.4|NCIT:C3503 owl:Class MONDO:0006810 biolink:NamedThing intracranial hypertension A finding characterized by increased cerebrospinal fluid pressure within the skull. tmpak2llvmy_mondo_relaxed.owl raised intracranial pressure MedDRA:10022764|EFO:1000992|DOID:9428|UMLS:C0151740|MESH:D019586 owl:Class MONDO:0009794 biolink:NamedThing orofaciodigital syndrome IV Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. tmpak2llvmy_mondo_relaxed.owl Baraitser-Burn syndrome|OFD4|Ofd syndrome with tibial defects|Ofd syndrome, Baraitser-Burn type|orofaciodigital syndrome type 4|orofaciodigital syndrome type IV|oral-facial-digital syndrome type 4|Mohr-Majewski syndrome|orofaciodigital syndrome with tibial dysplasia|oral-Facial-digital syndrome, type 4|oral facial digital syndrome 4|Ofds 4|oral facial digital syndrome type 4|OFD syndrome 4|orofaciodigital syndrome 4|orofaciodigital syndrome IV DOID:0060374|MESH:C537133|SCTID:239031000|UMLS:C0406727|Orphanet:2753|ICD10:Q87.0|GARD:0000816|OMIM:258860 https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 owl:Class UBERON:2001053 biolink:NamedThing future internal carotid artery tmpak2llvmy_mondo_relaxed.owl primitive internal carotid artery|PICA owl:Class HGNC:4688 biolink:NamedThing GUCY2C tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002225 biolink:NamedThing positive regulation of antimicrobial peptide production Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. tmpak2llvmy_mondo_relaxed.owl antimicrobial peptide induction|up regulation of antimicrobial peptide production|stimulation of antimicrobial peptide production|activation of antimicrobial peptide production|up-regulation of antimicrobial peptide production|upregulation of antimicrobial peptide production owl:Class GO:0023035 biolink:NamedThing CD40 signaling pathway A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl CD40 signalling pathway owl:Class MONDO:0003263 biolink:NamedThing childhood cerebellar neoplasm A neoplasm that affects the cerebellum and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric cerebellar tumor|childhood tumor of the cerebellum|pediatric neoplasm of cerebellum|pediatric tumor of the cerebellum|childhood cerebellar tumor|childhood cerebellar neoplasms|pediatric neoplasm of the cerebellum|childhood tumor of cerebellum|pediatric cerebellar neoplasm|pediatric tumor of cerebellum|childhood cerebellar tumors|childhood cerebellar neoplasm|childhood neoplasm of the cerebellum|childhood neoplasm of cerebellum UMLS:C1332959|DOID:5059|NCIT:C5970 owl:Class MONDO:0009333 biolink:NamedThing mullerian derivatives-lymphangiectasia-polydactyly syndrome Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. tmpak2llvmy_mondo_relaxed.owl MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly|Urioste syndrome|persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly UMLS:C1856159|Orphanet:1655|MESH:C536478|GARD:0005430|OMIM:235255 owl:Class MONDO:0019175 biolink:NamedThing primary lymphedema A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. tmpak2llvmy_mondo_relaxed.owl Troncular lymphatic malformation|primary lymphedema Orphanet:77240|ICD10:I89.0|NCIT:C48829 owl:Class MONDO:0013894 biolink:NamedThing short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome tmpak2llvmy_mondo_relaxed.owl short stature, onychodysplasia, facial dysmorphism, and hypotrichosis|soft syndrome|soft Orphanet:314394|ICD10:Q87.1|UMLS:C3542022|OMIM:614813 owl:Class MONDO:0017148 biolink:NamedThing heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. tmpak2llvmy_mondo_relaxed.owl HpaH|familial pulmonary arterial hypertension|FPAH|hereditary pulmonary arterial hypertension SCTID:697897003|Orphanet:275777|NCIT:C121945|OMIMPS:178600|UMLS:CN202575|ICD10:I27.0 owl:Class MONDO:0004596 biolink:NamedThing cor pulmonale Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. tmpak2llvmy_mondo_relaxed.owl pulmonary heart disease|heart diseases, pulmonary|heart disease, pulmonary|cor pulmonale|cardiopulmonary disease|diseases, pulmonary heart|pulmonary heart diseases|disease, pulmonary heart ICD10:I27.9|UMLS:C0034072|ICD10:I27.81|MESH:D011660|SCTID:274096000|DOID:8515 owl:Class MONDO:0005009 biolink:NamedThing congestive heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. tmpak2llvmy_mondo_relaxed.owl weak heart|congestive heart disease|failure, congestive heart|cardiac failure, congestive|CHF|heart failure, congestive NCIT:C3080|ICD9:404.01|ICD10:I50|ICD9:404.11|UMLS:C0018802|ICD9:428|ICD10:I50.9|EFO:0000373|ICD10:I50.0|ICD9:428.0|SCTID:42343007|ICD9:428.9|ICD9:404.13|DOID:6000 owl:Class MONDO:0002552 biolink:NamedThing vascular myelopathy tmpak2llvmy_mondo_relaxed.owl vascular myelopathies UMLS:C0154685|ICD9:336.1|SCTID:29774004|DOID:320|ICD10:G95.1 owl:Class MONDO:0007443 biolink:NamedThing congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). tmpak2llvmy_mondo_relaxed.owl asymmetric crying facies|depressor anguli oris muscle, hypoplasia of|isolated asymmetric crying facies|facial paresis, partial, unilateral|Cayler cardiofacial syndrome ICD9:759.89|OMIM:125520|ICD10:Q87.0|SCTID:51409009|Orphanet:1166 Editor note: TODO check relationship to 22q11.2 deletion syndrome owl:Class MONDO:0018923 biolink:NamedThing 22q11.2 deletion syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. tmpak2llvmy_mondo_relaxed.owl Shprintzen syndrome|velocardiofacial syndrome|conotruncal anomaly face syndrome|catch 22|monosomy 22q11|22q11DS|Cayler cardiofacial syndrome|Sedlackova syndrome|DiGeorge sequence|microdeletion 22q11.2|Takao syndrome|DiGeorge syndrome|VCFS Orphanet:567|ICD10:D82.1|MedDRA:10066430|MedDRA:10012979|GARD:0010299 owl:Class PATO:0001332 biolink:NamedThing amorphous A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000051 biolink:NamedThing morphology A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003013 biolink:NamedThing circulatory system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003008 biolink:NamedThing system process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. tmpak2llvmy_mondo_relaxed.owl organ system process owl:Class HGNC:18986 biolink:NamedThing GBA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016510 biolink:NamedThing epithelium of male urethra A epithelium that is part of a male urethra. tmpak2llvmy_mondo_relaxed.owl urethral epithelium of male|male urethral epithelium owl:Class UBERON:0002325 biolink:NamedThing epithelium of urethra The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes.. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of urethra|urethra epithelium|urethra epithelial tissue|urethral plate|urethral seam|urethral epithelium owl:Class MONDO:0003790 biolink:NamedThing prostatic urethra urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. tmpak2llvmy_mondo_relaxed.owl prostatic urethra urothelial carcinoma DOID:6166|UMLS:C1514522|NCIT:C39900 owl:Class MONDO:0003791 biolink:NamedThing prostatic urethral cancer A male urethral cancer that involves the prostatic urethra. tmpak2llvmy_mondo_relaxed.owl prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm|male urethral cancer of prostatic urethra NCIT:C39870|DOID:6167|UMLS:C1514523 owl:Class MONDO:0015181 biolink:NamedThing congenital intestinal disease due to an enzymatic defect tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:104006 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: intestinal disease' MONDO_0005020 owl:Class MONDO:0002634 biolink:NamedThing liposarcoma of bone A very rare malignant adipose tissue neoplasm that arises from the bone. tmpak2llvmy_mondo_relaxed.owl liposarcoma of bone|liposarcoma of the bone|bone tissue liposarcoma|bone liposarcoma|liposarcoma of bone tissue DOID:3381|UMLS:C1332581|NCIT:C7598 owl:Class MONDO:0021054 biolink:NamedThing bone sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of bone|sarcoma of the bone|osseous sarcoma|skeletal sarcoma|bone sarcoma SCTID:448710000|Orphanet:223727|UMLS:C1704327|NCIT:C9312|ICD9:170.9|MedDRA:10006007|DOID:0080639 owl:Class MONDO:0003535 biolink:NamedThing fallopian tube papillary adenocarcinoma An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. tmpak2llvmy_mondo_relaxed.owl papillary adenocarcinoma of fallopian tube|papillary adenocarcinoma of the fallopian tube|fallopian tube papillary adenocarcinoma DOID:5597|NCIT:C6267|UMLS:C1333595 owl:Class MONDO:0002746 biolink:NamedThing fallopian tube adenocarcinoma A carcinoma that arises from glandular epithelial cells of the fallopian tube tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the fallopian tube|adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma UMLS:C1333590|NCIT:C6265|DOID:3706 owl:Class GO:0002819 biolink:NamedThing regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009288 biolink:NamedThing glycogen storage disease Ib A type of glycogenosis due to G6P deficiency. tmpak2llvmy_mondo_relaxed.owl GSD type IB|GSD type 1 non a|glucose-6-phosphate Transport defect|G6PT deficiency|glycogen storage disease Ic|glycogen storage disease type IB|glycogenosis due to glucose-6-phosphatase transport defect type IB|GSD1B|Gsd1C|G6P translocase deficiency|glycogen storage disease due to G6P deficiency type IB|glycogenosis type 1b|GSD Ib|GSDIb|glycogen storage disease type I non-a|glycogenosis due to glucose-6-phosphatase deficiency type 1B|glycogenosis type IB|glycogen storage disease type 1b|GSD type 1b|GSD Ic|GSD due to G6PT deficiency|GSD1C|glycogen storage disease type Ic|glycogen storage disease Id|GSD due to G6P deficiency type IB|glycogen storage disease Ib|G6P deficiency type IB UMLS:C0342749|GARD:0002515|SCTID:237965005|SCTID:30102006|OMIM:232220|Orphanet:79259|NCIT:C122661|ICD10:E74.0|MESH:C562594|OMIM:232240 Editor note: TODO decide whether to merge Ic owl:Class MONDO:0023258 biolink:NamedThing glycogen storage disease type 1 due to SLC37A4 mutation Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. tmpak2llvmy_mondo_relaxed.owl SLC37A4 glycogen storage disease I|glycogen storage disease I caused by mutation in SLC37A4|glucose-6-phosphate translocase deficiency|G6P translocase deficiency MESH:C536831|UMLS:C2931345|HGNC:4061|GARD:0002501 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency owl:Class MONDO:0010353 biolink:NamedThing deafness-intellectual disability, Martin-Probst type syndrome Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic, Martin-Probst type|Martin-Probst deafness-mental retardation syndrome|X-linked deafness-intellectual disability syndrome syndrome|mental retardation, X-linked, syndromic, MARTIN-Probst type|Martin-Probst syndrome|intellectual disability, X-linked, syndromic, Martin-Probst type|intellectual disability, X-linked, syndromic, MARTIN-Probst type|MRXSMP|Martin-Probst deafness-intellectual disability syndrome|deafness-intellectual disability syndrome, Martin-Probst type SCTID:721087008|Orphanet:85321|DOID:0060830|MESH:C564495|OMIM:300519|ICD10:Q87.8 owl:Class UBERON:0003609 biolink:NamedThing aorta elastic tissue The dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall. tmpak2llvmy_mondo_relaxed.owl dorsal aorta textus connectivus elasticus|aorta textus connectivus elasticus|textus connectivus elasticus of dorsal aorta|elastic connective tissue of trunk of aortic tree|adult aorta elastic tissue|textus connectivus elasticus of trunk of aortic tree|elastic tissue of aorta|elastic connective tissue of dorsal aorta|dorsal aorta elastic connective tissue|textus connectivus elasticus of adult aorta|aorta elastic connective tissue|textus connectivus elasticus of aorta|trunk of aortic tree elastic tissue|elastic tissue of adult aorta|aorta elastic laminae|elastic connective tissue of aorta|aorta elastic lamina|elastic tissue of dorsal aorta|elastic connective tissue of adult aorta|trunk of aortic tree elastic connective tissue|adult aorta elastic connective tissue|elastic tissue of trunk of aortic tree|adult aorta textus connectivus elasticus|trunk of aortic tree textus connectivus elasticus|dorsal aorta elastic tissue owl:Class UBERON:0003614 biolink:NamedThing blood vessel elastic tissue Elastic tissue layer that lines a blood vessel layer. tmpak2llvmy_mondo_relaxed.owl blood vessel textus connectivus elasticus|elastic connective tissue of blood vessel|elastic laminae|blood vessel elastic connective tissue|textus connectivus elasticus of blood vessel|elastic lamina|vascular elastic tissue|vascular elastic lamina|vascular elastic laminae|elastic tissue of blood vessel owl:Class UBERON:0004908 biolink:NamedThing upper digestive tract The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. tmpak2llvmy_mondo_relaxed.owl upper gastrointestinal tract|upper GI tract owl:Class UBERON:0004921 biolink:NamedThing subdivision of digestive tract A proximal-distal subdivision of the digestive tract. tmpak2llvmy_mondo_relaxed.owl segment of intestinal tract|subdivision of alimentary system|alimentary system subdivision|intestinal tract owl:Class MONDO:0002772 biolink:NamedThing intraventricular meningioma A meningioma that affects the ventricles of the brain. tmpak2llvmy_mondo_relaxed.owl meningioma (disease) of brain ventricle|brain ventricle meningioma (disease) UMLS:C1334271|DOID:3772|NCIT:C5273 owl:Class MONDO:0002682 biolink:NamedThing cerebral ventricle cancer A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure. tmpak2llvmy_mondo_relaxed.owl cerebral ventricle neoplasm|intraventricular neoplasm of brain|malignant neoplasm of brain ventricle|intraventricular brain neoplasms|intraventricular neoplasm of the brain|malignant brain ventricle neoplasm|intraventricular brain tumor|intraventricular tumor of the brain|intraventricular neoplasms|intraventricular tumor of brain|brain ventricle cancer|intraventricular brain neoplasm|brain neoplasms, intraventricular|cancer of brain ventricle EFO:0007201|ICD10:C71.5|GARD:0006025|MESH:D002551|DOID:3541|ICD9:191.5|NCIT:C2937|SCTID:126958000 https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer owl:Class CL:0000050 biolink:NamedThing megakaryocyte-erythroid progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. tmpak2llvmy_mondo_relaxed.owl CFU-EM|megakaryocyte/erythroid progenitor cell|colony forming unit erythroid megakaryocyte|CFU-MegE|megakaryocyte/erythrocyte progenitor|MEP|Meg/E progenitor MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. cell owl:Class HGNC:26054 biolink:NamedThing SLC25A38 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:461 biolink:NamedThing AMELX tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0106121 biolink:NamedThing positive regulation of cobalamin metabolic process Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901403 biolink:NamedThing positive regulation of tetrapyrrole metabolic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. tmpak2llvmy_mondo_relaxed.owl up-regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolism|activation of tetrapyrrole metabolic process|positive regulation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|upregulation of tetrapyrrole metabolic process owl:Class MONDO:0010670 biolink:NamedThing X-linked intellectual disability-spastic quadriparesis syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia UMLS:C1839727|Orphanet:163982|MESH:C564099|OMIM:309640 owl:Class MONDO:0021171 biolink:NamedThing Timothy syndrome type 1 (disorder) Classic form of Timothy syndrome, includes all features of generic. tmpak2llvmy_mondo_relaxed.owl Timothy syndrome, classic type ICD9:759.89|SCTID:699256006 owl:Class MONDO:0010979 biolink:NamedThing Timothy syndrome Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. tmpak2llvmy_mondo_relaxed.owl Timothy syndrome|LQT8|long QT syndrome-syndactyly syndrome|long QT syndrome with syndactyly|long QT syndrome type 8|long QT syndrome 8|TS|TIMOTHY syndrome ICD10:G72.3|NCIT:C142894|MESH:C536962|OMIM:601005|UMLS:C1832916|DOID:0060173|ICD10:I45.8|Orphanet:65283|GARD:0009294 https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome owl:Class MONDO:0016947 biolink:NamedThing partial duplication of the short arm of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome 10p|partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10 Orphanet:262776 owl:Class MONDO:0016931 biolink:NamedThing partial duplication of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 10 Orphanet:262648|SCTID:726349006 owl:Class MONDO:0014840 biolink:NamedThing agammaglobulinemia 8, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. tmpak2llvmy_mondo_relaxed.owl agammaglobulinemia 8, autosomal dominant|autosomal agammaglobulinemia caused by mutation in TCF3|AGM8|agammaglobulinemia 8, autosomal dominant; AGM8|agammaglobulinemia, autosomal dominant, due to TCF3 defect|TCF3 autosomal agammaglobulinemia UMLS:C4310786|OMIM:616941 owl:Class UBERON:0004930 biolink:NamedThing submucosa of transverse colon A submucosa that is part of a transverse colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl transverse colon submucosa owl:Class CL:1000510 biolink:NamedThing kidney glomerular epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001023 cell owl:Class CL:0002518 biolink:NamedThing kidney epithelial cell An epithelial cell of the kidney. tmpak2llvmy_mondo_relaxed.owl KUPO:0001019 tmeehan 2011-02-08T10:46:34Z cell owl:Class MONDO:0008222 biolink:NamedThing Andersen-Tawil syndrome Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. tmpak2llvmy_mondo_relaxed.owl Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|long QT syndrome 7|cardiodysrhythmic potassium-sensitive periodic paralysis|Potassium-sensitive cardiodysrhythmic type|ATS|Andersen syndrome|Andersen-Tawil syndrome|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|long QT syndrome type 7|Andersen cardiodysrhythmic periodic paralysis|LQT7 ICD9:759.89|SCTID:422348008|ICD10:G72.3|OMIM:170390|DOID:0050434|NCIT:C84559|MESH:D050030|UMLS:C1563715|Orphanet:37553|GARD:0009453 owl:Class HGNC:11850 biolink:NamedThing TLR4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:435 biolink:NamedThing ALOX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001364 biolink:NamedThing regular astigmatism tmpak2llvmy_mondo_relaxed.owl ICD10:H52.22|DOID:11781|UMLS:C0152193|SCTID:68905002|ICD9:367.21 owl:Class MONDO:0011284 biolink:NamedThing astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl astigmatism|astigmatism (disease) astigmatism (disease) SCTID:82649003|OMIM:603047|ICD9:367.2|DOID:11782|HP:0000483|MESH:D001251|ICD9:367.20|UMLS:C0004106|ICD10:H52.20|ICD10:H52.2|CSP:1116-1831 owl:Class MONDO:0007546 biolink:NamedThing myeloproliferative disorder, chronic, with eosinophilia tmpak2llvmy_mondo_relaxed.owl myeloproliferative disorder, chronic, with eosinophilia|MPE|eosinophils, malignant proliferation of UMLS:C1851585|DOID:0111344|MESH:C565054|OMIM:131440 owl:Class MONDO:0019340 biolink:NamedThing scleroderma Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). tmpak2llvmy_mondo_relaxed.owl dermatosclerosis|scleroderma (disease)|Scleroderma|scleroderma scleroderma (disease) Orphanet:801|NCIT:C26746|HP:0100324|DOID:419|MedDRA:10039710 owl:Class GO:0006568 biolink:NamedThing tryptophan metabolic process The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl tryptophan metabolism owl:Class GO:1901605 biolink:NamedThing alpha-amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. tmpak2llvmy_mondo_relaxed.owl alpha-amino acid metabolism owl:Class MONDO:0020552 biolink:NamedThing placental site trophoblastic tumor Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. tmpak2llvmy_mondo_relaxed.owl placental-site gestational trophoblastic neoplasm|PSST|placental-site gestational trophoblastic tumor|placental site trophoblastic tumor (morphologic abnormality)|placental-site GTT|placental site gestational trophoblastic tumor|placental site trophoblastic tumor ICD10:D39.2|MESH:D018245|ONCOTREE:PSTT|ICDO:9104/1|Orphanet:99928|DOID:3596|EFO:1001111|SCTID:237252008|UMLS:C0206666|NCIT:C3757 owl:Class MONDO:0005207 biolink:NamedThing choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpak2llvmy_mondo_relaxed.owl chorion carcinoma|choriocarcinoma, malignant|choriocarcinoma|chorionic carcinoma|chorioblastoma|chorioepithelioma|choriocarcinoma (disease) choriocarcinoma (disease) ICDO:9100/3|GARD:0006059|ICD10:C58|NCIT:C2948|UMLS:C0008497|EFO:0002893|HP:0100768|DOID:3594|SCTID:188188009|MESH:D002822|ONCOTREE:BCCA Editor note: TODO check classification w.r.t carcinoma owl:Class MONDO:0021389 biolink:NamedThing neoplasm of aortic body A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. tmpak2llvmy_mondo_relaxed.owl aortic body neoplasm|paraganglioma of aortic body|tumor of the aortic body|aortic body tumor|aortic body neoplasm (disease)|aortic body paraganglioma|neoplasm of aortic body|paraganglioma of the aortic body|tumor of aortic body|neoplasm of the aortic body|aorticopulmonary paraganglioma ICD9:239.7|SCTID:127029006|ICDO:8691/1|UMLS:C0334417|NCIT:C4218 owl:Class MONDO:0021052 biolink:NamedThing parasympathetic paraganglioma A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. tmpak2llvmy_mondo_relaxed.owl paraganglioma of parasympathetic nervous system|parasympathetic Extra-adrenal paraganglioma|parasympathetic paraganglioma|parasympathetic nervous system paraganglioma|parasympathetic Paraganglionic neoplasm ICDO:8682/1|NCIT:C4217|UMLS:C0334416 owl:Class HGNC:7562 biolink:NamedThing MYD88 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009020 biolink:NamedThing left uterine horn An uterine horn that is in the left side of a uterus. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:189359 biolink:NamedThing Xylariales incertae sedis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:67607 ncbi_taxonomy owl:Class NCBITaxon:37989 biolink:NamedThing Xylariales tmpak2llvmy_mondo_relaxed.owl Sphaeriales GC_ID:1 ncbi_taxonomy owl:Class HGNC:9586 biolink:NamedThing PTCH2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001939 biolink:NamedThing Abnormality of metabolism/homeostasis tmpak2llvmy_mondo_relaxed.owl Metabolism abnormality|Laboratory abnormality UMLS:C4021768 HP:0004355|HP:0002146|HP:0004367 human_phenotype owl:Class MONDO:0008557 biolink:NamedThing Paris-Trousseau thrombocytopenia Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia Paris-Trousseau type|Paris-Trousseau syndrome|chromosome 11q23 deletion syndrome|TCPT|thrombocytopenia, Paris-TROUSSEAU type ICD10:D69.4|OMIM:188025|Orphanet:851|GARD:0004224|UMLS:C1861178|UMLS:C1956093 https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia owl:Class MONDO:0016910 biolink:NamedThing partial deletion of the long arm of chromosome 11 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 11q|11q deletion|partial monosomy of the long arm of chromosome 11|del(11q)|partial monosomy 11q|monosomy 11q partial|deletion 11q|chromosome 11q deletion|partial deletion of the long arm of chromosome type 11|chromosome 11q partial deletion|monosomy 11q|loss of chromosome 11q|11q monosomy|Deletion 11q partial|partial monosomy of chromosome 11q GTR:AN0100479|GARD:0001735|GTR:AN0100480|NCIT:C37312|GTR:AN0100478|Orphanet:262092|ICD10:Q93.5|UMLS:CN035778|MESH:C538296 owl:Class MONDO:0021494 biolink:NamedThing benign neoplasm of parotid gland A benign neoplasm that involves the parotid gland. tmpak2llvmy_mondo_relaxed.owl parotid gland benign neoplasm|benign tumor of parotid|benign neoplasm of parotid|benign parotid gland neoplasm|benign tumor of the parotid gland|benign parotid gland tumor|benign parotid neoplasm|benign neoplasm of the parotid gland|benign parotid tumor|benign tumor of parotid gland|benign tumor of the parotid|benign neoplasm of the parotid SCTID:92279000|ICD10:D11.0|NCIT:C4770|UMLS:C0496857 owl:Class MONDO:0021492 biolink:NamedThing benign neoplasm of major salivary gland A benign neoplasm that involves the major salivary gland. tmpak2llvmy_mondo_relaxed.owl benign Major salivary gland neoplasm|benign tumor of Major salivary gland|benign neoplasm of the Major salivary gland|benign tumor of the Major salivary gland|benign Major salivary gland tumor|major salivary gland benign neoplasm ICD9:210.2|NCIT:C4771|UMLS:C0496858|SCTID:92205005 owl:Class ENVO:01001026 biolink:NamedThing electromagnetic radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. tmpak2llvmy_mondo_relaxed.owl EM radiation owl:Class MONDO:0022174 biolink:NamedThing chromosome 12p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. tmpak2llvmy_mondo_relaxed.owl loss of chromosome 12p|deletion 12p|12p monosomy|12p deletion|del(12p)|12p-|partial monosomy 12p|12p del|monosomy 12p GARD:0006068|MESH:C538301|UMLS:C0795844|NCIT:C36410 https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion owl:Class HGNC:14153 biolink:NamedThing CCDC78 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009539 biolink:NamedThing mesenchyme of submandibular gland primordium Mesenchyme that is part of a submandibular gland primordium. tmpak2llvmy_mondo_relaxed.owl submaxillary gland primordium mesenchyme owl:Class UBERON:0003324 biolink:NamedThing mesenchyme of lower jaw Mesenchyme that is part of a developing lower jaw [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of ventral mandibular arch|ventral mandibular arch mesenchyme|lower jaw mesenchyme owl:Class MONDO:0021379 biolink:NamedThing neoplasm of epicardium A neoplasm (disease) that involves the epicardium. tmpak2llvmy_mondo_relaxed.owl epicardium neoplasm (disease)|tumor of epicardium|epicardium neoplasm|neoplasm of the epicardium|epicardial neoplasm|epicardium tumor|tumor of the epicardium|epicardial tumor|neoplasm of epicardium NCIT:C5347|UMLS:C1290403|SCTID:126733004|ICD9:239.89 owl:Class MONDO:0024636 biolink:NamedThing inflammation of heart layer An inflammatory disease involving a pathogenic inflammatory response in the heart layer. tmpak2llvmy_mondo_relaxed.owl heart layer inflammation|carditis SCTID:399617002|ICD9:429.89 owl:Class MONDO:0034092 biolink:NamedThing optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:543470 owl:Class MONDO:0006745 biolink:NamedThing endometrioid stromal sarcoma A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl stromal sarcoma of the corpus uteri|undifferentiated endometrial sarcoma|stromal sarcomas, endometrial|ess|stromal sarcoma, endometrial|endometrial stromal sarcomas|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|sarcomas, endometrial stromal|endometrial stromal sarcoma|endometrioid stromal sarcoma DOID:4226|MedDRA:10048397|NCIT:C8973|ICD10:C54.1|ICDO:8930/3|GARD:0006339|MESH:D018203|SCTID:699356008|MedDRA:10057649|Orphanet:213711|UMLS:C2239246|ONCOTREE:ESS|EFO:1000919|UMLS:C0206630 https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma owl:Class MONDO:0021664 biolink:NamedThing cervical aortic arch tmpak2llvmy_mondo_relaxed.owl aortic arch syndrome ICD10:Q25.4|Orphanet:99079 Editor note: consider merging with MONDO:0017991 owl:Class MONDO:0002426 biolink:NamedThing lung sarcoma A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the lung|sarcoma of lung|pulmonary sarcoma|lung sarcoma UMLS:C0598790|NCIT:C4860|DOID:2784 owl:Class MONDO:0007092 biolink:NamedThing amelogenesis imperfecta type 1B Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. tmpak2llvmy_mondo_relaxed.owl AIH2|autosomal dominant hypoplastic local amelogenesis imperfecta|AI1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|amelogenesis imperfecta type IB|amelogenesis imperfecta, type IB|ENAM amelogenesis imperfecta|amelogenesis imperfecta, type 1B|enam amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ENAM|enamel hypoplasia, hereditary localized|hereditary localized enamel hypoplasia|amelogenesis imperfecta caused by mutation in enam SCTID:234961008|ICD10:K00.5|DOID:0110052|UMLS:C0399368|OMIM:104500|ICD9:520.5|MESH:C562879 owl:Class MONDO:0009954 biolink:NamedThing Ramon syndrome tmpak2llvmy_mondo_relaxed.owl cherubism-gingival fibromatosis-intellectual disability syndrome|Ramon syndrome|gingival fibromatosis combined with cherubism|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth MESH:C535285|UMLS:C0796133|ICD10:Q87.8|Orphanet:3019|GARD:0007523|OMIM:266270 https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome owl:Class CHEBI:76741 biolink:NamedThing EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*). tmpak2llvmy_mondo_relaxed.owl inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|EC 1.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor owl:Class MONDO:0020501 biolink:NamedThing Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. tmpak2llvmy_mondo_relaxed.owl Congo hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|CHF Congo virus|Congo fever|Crimean hemorrhagic fever|Congo-Crimean hemorrhagic fever|CCHF|Crimean-Congo haemorrhagic fever Orphanet:99827|UMLS:C1304456|SCTID:402919000|DOID:12287|NCIT:C34682|ICD10:A98.0|MESH:D006479|UMLS:C0019099|ICD9:065.0 owl:Class MONDO:0024476 biolink:NamedThing epithelial neoplasm of rectum A epithelial neoplasm that involves the rectum. tmpak2llvmy_mondo_relaxed.owl rectal epithelial tumor|rectal epithelial neoplasm|rectum epithelial neoplasm owl:Class MONDO:0008890 biolink:NamedThing progressive bulbar palsy Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. tmpak2llvmy_mondo_relaxed.owl progressive bulbar atrophy|Fazio-Londe disease|bulbar palsy, progressive, of childhood MESH:D010244|NCIT:C85026|GARD:0010928|SCTID:54304004|EFO:0003783|ICD9:335.22|DOID:681|UMLS:C0030442|ICD10:G12.22 https://github.com/monarch-initiative/mondo/issues/127|https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy owl:Class MONDO:0002782 biolink:NamedThing cranial nerve palsy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. tmpak2llvmy_mondo_relaxed.owl cranial nerve palsy|cranial nerve palsies|cranial nerve paralysis UMLS:C0151311|NCIT:C26941|DOID:3817 owl:Class GO:0014047 biolink:NamedThing glutamate secretion The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015800 biolink:NamedThing acidic amino acid transport The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014666 biolink:NamedThing hypomyelinating leukodystrophy 11 Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating, 11|HLD11|hypomyelinating leukodystrophy type 11|leukodystrophy, hypomyelinating, type 11|leukodystrophy caused by mutation in POLR1C|POLR1C leukodystrophy DOID:0060792|OMIM:616494|UMLS:C4225305|ICD10:G11.1 owl:Class MONDO:0001409 biolink:NamedThing esophagitis An acute or chronic inflammatory disease affecting the esophageal wall. tmpak2llvmy_mondo_relaxed.owl inflammation of esophagus|esophagitis (disease)|esophagus inflammation|esophagitis|acute esophagitis esophagitis (disease) ICD9:530.1|ICD10:K20.9|UMLS:C0014868|MESH:D004941|NCIT:C9224|SCTID:16761005|UMLS:C0149882|ICD10:K20|DOID:11963|HP:0100633|ICD9:530.10|ICD9:530.12 owl:Class UBERON:0003351 biolink:NamedThing pharyngeal epithelium An epithelium that is part of a pharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of pharynx|epithelial tissue of pharynx|pharynx epithelial tissue|pharynx epithelium owl:Class MONDO:0009186 biolink:NamedThing epilepsy, photogenic, with spastic diplegia and intellectual disability tmpak2llvmy_mondo_relaxed.owl epilepsy, photogenic, with spastic diplegia and intellectual disability|epilepsy, photogenic, with spastic diplegia and mental retardation OMIM:226800|MESH:C565587|UMLS:C1856931 owl:Class HGNC:14412 biolink:NamedThing AGXT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004008 biolink:NamedThing cerebellar plate The embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium tmpak2llvmy_mondo_relaxed.owl cerebellum plate|cerebellum roof plate owl:Class GO:0019395 biolink:NamedThing fatty acid oxidation The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034440 biolink:NamedThing lipid oxidation The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004559 biolink:NamedThing alpha-mannosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. tmpak2llvmy_mondo_relaxed.owl alpha-D-mannoside mannohydrolase activity|exo-alpha-mannosidase activity|1,2-alpha-mannosidase|alpha-D-mannosidase activity|p-nitrophenyl-alpha-mannosidase activity|alpha-D-mannopyranosidase activity|1,2-alpha-D-mannosidase activity owl:Class GO:0015923 biolink:NamedThing mannosidase activity Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903579 biolink:NamedThing negative regulation of ATP metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. tmpak2llvmy_mondo_relaxed.owl inhibition of ATP metabolic process|down-regulation of ATP metabolism|downregulation of ATP metabolism|negative regulation of ATP metabolism|downregulation of ATP metabolic process|down regulation of ATP metabolic process|down-regulation of ATP metabolic process|inhibition of ATP metabolism|down regulation of ATP metabolism owl:Class MONDO:0000628 biolink:NamedThing central nervous system organ benign neoplasm A benign neoplasm that involves the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system benign neoplasm DOID:0060090 owl:Class MONDO:0041755 biolink:NamedThing twin reversal arterial perfusion syndrome tmpak2llvmy_mondo_relaxed.owl twin reversal arterial perfusion syndrome SCTID:417006004|UMLS:C1562817 owl:Class MONDO:0019805 biolink:NamedThing twin to twin transfusion syndrome Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated tmpak2llvmy_mondo_relaxed.owl Twin to twin transfusion|fetal transfusion syndrome|fetal hemorrhage into co-twin|Feto-fetal transfusion syndrome|stuck Twin syndrome|Twin-Twin transfusion syndrome|fetal blood loss from fetal hemorrhage into co-twin|placental transfusion syndrome|Twin-to-twin blood transfer|twin-to-twin transfusion syndrome|TTTS|Fetofetal transfusion syndrome UMLS:CN206761|NCIT:C113824|SCTID:13404009|Orphanet:95431|ICD10:O43.029|DOID:13576|GARD:0000325|ICD10:O43.0|EFO:1001221|MESH:D005330|MedDRA:10058328|ICD10:O43.02 owl:Class UBERON:0003910 biolink:NamedThing splenic sinusoid wide vessels in the spleen that drain into trabecular veins[WP]. tmpak2llvmy_mondo_relaxed.owl sinusoidal blood vessel of spleen|sinusoid of red pulp of spleen owl:Class UBERON:0003909 biolink:NamedThing sinusoid small blood vessel similar to a capillary but with a fenestrated endothelium. Sinusoids are found in the liver, lymphoid tissue, endocrine organs, and hematopoietic organs such as the bone marrow and the spleen. Sinusoids found within terminal villi of the placenta are not comparable to these; they possess a continuous endothelium and complete basal lamina[WP]. tmpak2llvmy_mondo_relaxed.owl endothelium of irregular blood filled space|sinusoidal blood vessel|sinusoidal blood vessel endothelium|sinusoidal capillary|sinusoidal endothelium owl:Class MONDO:0019082 biolink:NamedThing bullous pemphigoid Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. tmpak2llvmy_mondo_relaxed.owl pemphigoid|bullous pemphigoid|benign pemphigus|Parapemphigus|Senile dermatitis herpetiformis|Old Age pemphigus UMLS:C0030805|EFO:0007187|ICD9:694.5|MESH:D010391|ICD10:L12.9|SCTID:77090002|NCIT:C84389|GARD:0005972|DOID:8506|Orphanet:703|ICD10:L12.0|ICD10:L12 owl:Class HGNC:3508 biolink:NamedThing EWSR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0007550 biolink:NamedThing Hypohidrosis or hyperhidrosis tmpak2llvmy_mondo_relaxed.owl Lack of sweating or excessive sweating UMLS:C4021831 human_phenotype owl:Class MONDO:0012118 biolink:NamedThing COG7-CDG COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 2e|COG7-CDG (CDG-IIe)|CDG-IIe|COG7-CDG|CDG 2E|congenital disorder of glycosylation, type IIe|CDG2E|carbohydrate deficient glycoprotein syndrome type IIe|CDG IIe|congenital disorder of glycosylation type IIe|CDG syndrome type IIe MESH:C535754|GARD:0009842|ICD10:E77.8|OMIM:608779|SCTID:717773005|Orphanet:79333 owl:Class MONDO:0018981 biolink:NamedThing benign idiopathic neonatal seizures A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. tmpak2llvmy_mondo_relaxed.owl benign nonfamilial neonatal seizures|BINS UMLS:CN205419|ICD10:G40.4|Orphanet:64545 owl:Class MONDO:0060455 biolink:NamedThing X-linked congenital hemolytic anemia tmpak2llvmy_mondo_relaxed.owl hemolytic anemia, congenital, X-linked OMIM:301015 owl:Class MONDO:0003689 biolink:NamedThing familial hemolytic anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. tmpak2llvmy_mondo_relaxed.owl anemia hemolytic congenital|hereditary hemolytic anemia|congenital hemolytic anemia ICD9:282|SCTID:42601008|ICD9:282.9|DOID:589|NCIT:C34379|MESH:D000745|GARD:0006167|ICD10:D58.9 https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia owl:Class MONDO:0014557 biolink:NamedThing ataxia - oculomotor apraxia type 4 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. tmpak2llvmy_mondo_relaxed.owl ataxia-oculomotor apraxia 4|ataxia - oculomotor apraxia type 4|PNKP oculomotor apraxia or related oculomotor disease|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP|AOA4|ataxia-oculomotor apraxia-4 UMLS:C4225397|GARD:0013111|EFO:0009016|Orphanet:459033|OMIM:616267 https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4 owl:Class MONDO:0020047 biolink:NamedThing autosomal recessive syndromic cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl UMLS:CN227742|Orphanet:98099 owl:Class MONDO:0013774 biolink:NamedThing trigonocephaly 2 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene. tmpak2llvmy_mondo_relaxed.owl trigonocephaly 2|FREM1 isolated trigonocephaly|isolated trigonocephaly caused by mutation in FREM1|trigonocephaly type 2|craniosynostosis, metopic|TRIGNO2 OMIM:614485 owl:Class MONDO:0018065 biolink:NamedThing isolated trigonocephaly Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. tmpak2llvmy_mondo_relaxed.owl nonsyndromic trigonocephaly|non-syndromic metopic craniosynostosis Orphanet:3366|ICD10:Q75.0|OMIMPS:190440|UMLS:CN236409|UMLS:CN239481 owl:Class MONDO:0013226 biolink:NamedThing combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|ROIFMAN-Chitayat syndrome|Roifman-Chitayat syndrome MESH:C567641|ICD10:Q87.8|OMIM:613328|UMLS:C2750068|Orphanet:221139 owl:Class ENVO:01000703 biolink:NamedThing hydrological precipitation process Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity. tmpak2llvmy_mondo_relaxed.owl precipitation owl:Class ENVO:01000875 biolink:NamedThing precipitation process A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013808 biolink:NamedThing Maffucci syndrome Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. tmpak2llvmy_mondo_relaxed.owl Dyschondrodysplasia with hemangiomas|Dyschondroplasia and cavernous hemangioma|hemangiomata with Dyschondroplasia|enchondromatosis with multiple cavernous hemangiomas|Maffucci syndrome|multiple Angiomas and Endochondromas|Maffucci's anomalad|chondrodysplasia with hemangioma|Chondroplasia angiomatosis|hemangiomatosis Chondrodystrophica|Kast syndrome|multiple enchondromatosis, Maffucci type|enchondromatosis with hemangiomata DOID:0060221|SCTID:46041001|GARD:0006958|UMLS:C0024454|NCIT:C3213|OMIM:614569|ICD10:Q78.4|Orphanet:163634 https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome owl:Class HGNC:2972 biolink:NamedThing DNM1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19689 biolink:NamedThing RD3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28852 biolink:NamedThing SYCE1 tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000389 biolink:NamedThing reflexive behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl reflex behaviour owl:Class NBO:0000388 biolink:NamedThing involuntary movement behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002380 biolink:NamedThing myoepithelial tumor A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpak2llvmy_mondo_relaxed.owl myoepithelial adenoma|myoepithelial tumor|myoepithelial neoplasm|benign myoepithelioma|myoepithelioma DOID:2661|ICDO:8982/1|NCIT:C40392|MESH:D009208|ICDO:8982/0|UMLS:C1947949|UMLS:C0027070 owl:Class MONDO:0008515 biolink:NamedThing syndactyly type 4 Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). tmpak2llvmy_mondo_relaxed.owl polysyndactyly, Haas type|polysyndactyly type Haas|syndactyly, type IV|SDTY4|non-syndromic syndactyly caused by mutation in LMBR1|syndactyly, type 4|Haas type syndactyly|Sd4|LMBR1 non-syndromic syndactyly SCTID:719158007|Orphanet:93405|OMIM:186200|GARD:0004434|UMLS:C1861355|ICD10:Q70.4|MESH:C566092 https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 owl:Class MONDO:0019530 biolink:NamedThing non-syndromic syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. tmpak2llvmy_mondo_relaxed.owl nonsyndromic syndactyly|chromosome 2q35 duplication syndrome|symphalangy|symphalangism|isolated syndactyly|syndactyly|webbing of digits ICD10:Q70.1|ICD10:Q70.4|MedDRA:10042778|ICD10:Q70.3|NCIT:C87125|UMLS:C0039075|ICD10:Q70.0|ICD10:Q70.9|ICD10:Q70.2|Orphanet:90025 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0010306 biolink:NamedThing X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl X-linked mental retardation with short stature, hypogonadism, and abnormal gait|mental retardation, X-linked, syndromic 15 (Cabezas type)|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|syndromic X-linked intellectual disability Cabezas type|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|intellectual disability, X-linked, syndromic 15 (Cabezas type)|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|mental retardation, X-linked, with short stature|Cabezas syndrome; syndromic X-linked intellectual disability 15|intellectual disability, X-linked, with short stature|mental retardation, X-linked, syndromic, Cabezas type|X-linked intellectual disability, Cabezas type|MRXSC|intellectual disability, X-linked, syndromic, Cabezas type|Cabezas syndrome; syndromic X-linked mental retardation 15|Cabezas type of X-linked syndromic intellectual disability|MRXS15|Cul4B-related X-linked intellectual disability|X-linked mental retardation with short stature|mental retardation, X-linked, syndromic 15|X-linked intellectual disability with short stature|Cabezas syndrome|intellectual disability, X-linked, syndromic 15|MRSS UMLS:C1845861|OMIM:300354|GARD:0013244|Orphanet:85293|SCTID:719811001|DOID:0060822|ICD10:Q87.8|UMLS:C1845845 OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. owl:Class MONDO:0002170 biolink:NamedThing chronic eustachian salpingitis Chronic form of otosalpingitis. tmpak2llvmy_mondo_relaxed.owl chronic otosalpingitis|chronic eustachian tube salpingitis|otosalpingitis, chronic SCTID:194269002|ICD10:H68.029|UMLS:C0155430|ICD10:H68.02|DOID:1999|ICD9:381.52 owl:Class MONDO:0021204 biolink:NamedThing chronic otitis media Chronic form of otitis media (disease). tmpak2llvmy_mondo_relaxed.owl otitis media (disease), chronic|chronic otitis media (disease) UMLS:C0271441|SCTID:21186006|ICD9:381.3 owl:Class SO:0000453 biolink:NamedThing chromosomal_transposition A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type. tmpak2llvmy_mondo_relaxed.owl chromosomal transposition|transposition owl:Class SO:1000183 biolink:NamedThing chromosome_structure_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. tmpak2llvmy_mondo_relaxed.owl chromosome structure variation|snpEff:CHROMOSOME_LARGE_DELETION owl:Class HGNC:21219 biolink:NamedThing CILK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043512 biolink:NamedThing traumatic encephalopathy Encephalopathy resulting from trauma. tmpak2llvmy_mondo_relaxed.owl post-traumatic brain syndrome|dementia due to head trauma|post-traumatic dementia|traumatic encephalopathy EFO:1001277|SCTID:230282000|NCIT:C35542 Editor note: consider separate class for dementia owl:Class MONDO:0005560 biolink:NamedThing brain disease A disease affecting the brain or part of the brain. tmpak2llvmy_mondo_relaxed.owl encephalopathy|disease of brain|disorder of brain|disease or disorder of brain|brain disease|brain disease or disorder UMLS:C0085584|ICD10:G93.9|EFO:0005774|ICD9:348.3|ICD10:G93.40|SCTID:81308009|ICD9:348.30|ICD9:348.9|UMLS:C0006111|ICD9:348.8|MESH:D001927|DOID:936|NCIT:C96413 Editor note: NCIT has different classes for brain disease and encephalopathy owl:Class UBERON:0005398 biolink:NamedThing female reproductive gland A sex gland that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003937 biolink:NamedThing reproductive gland Any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction. tmpak2llvmy_mondo_relaxed.owl genitalia gland|gland of genitalia|reproductive system gland|reproductive gland|sex gland|gland of reproductive system owl:Class HGNC:9721 biolink:NamedThing PYCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001467 biolink:NamedThing shoulder A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle). tmpak2llvmy_mondo_relaxed.owl shoulder region|articulatio humeri owl:Class MONDO:0012414 biolink:NamedThing neuronal ceroid lipofuscinosis 10 Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpak2llvmy_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, 10|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|neuronal ceroid lipofuscinosis cathepsin D-deficient|Cathepsin D deficiency|CLN10 disease, late infantile (subtype)|CTSD neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CTSD|CLN10 disease|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|CLN10|ceroid lipofuscinosis, neuronal, type 10|CLN10 disease, congenital (subtype)|ceroid lipofuscinosis neuronal Cathepsin D-deficient|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|CLN10 disease, adult (subtype)|CLN10 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis type 10 Orphanet:228337|MESH:C566438|ICD10:E75.4|GARD:0001218|OMIM:610127|SCTID:720831008|DOID:0110725 https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 owl:Class MONDO:0019260 biolink:NamedThing adult neuronal ceroid lipofuscinosis Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. tmpak2llvmy_mondo_relaxed.owl CLN4 disease, adult autosomal dominant|adult NCL|neuronal ceroid lipofuscinosis 4|ANCL|neuronal ceroid lipofuscinosis of adults|adult neuronal ceroid lipofuscinosis|Kuf's disease|Kufs disease GARD:0010973|Orphanet:79262|SCTID:62009002|UMLS:C0022797|UMLS:CN205864|ICD10:E75.4 https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis owl:Class GO:0045844 biolink:NamedThing positive regulation of striated muscle tissue development Any process that activates or increases the frequency, rate or extent of striated muscle development. tmpak2llvmy_mondo_relaxed.owl up regulation of striated muscle development|stimulation of striated muscle development|up-regulation of striated muscle development|activation of striated muscle development|upregulation of striated muscle development owl:Class MONDO:0012755 biolink:NamedThing episodic ataxia type 7 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. tmpak2llvmy_mondo_relaxed.owl episodic ataxia, type 7|EA7 Orphanet:209970|UMLS:C2677843|ICD10:G11.8|MESH:C567459|OMIM:611907|DOID:0050995|SCTID:718752007 owl:Class MONDO:0016227 biolink:NamedThing hereditary episodic ataxia Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. tmpak2llvmy_mondo_relaxed.owl ea syndrome|Isaacs syndrome|episodic ataxia syndrome|episodic ataxia EFO:1000638|DOID:963|UMLS:C1720189|OMIMPS:160120|GARD:0009851|SCTID:421455009|ICD10:G11.8|Orphanet:211062 owl:Class GO:0010890 biolink:NamedThing positive regulation of sequestering of triglyceride Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpak2llvmy_mondo_relaxed.owl positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration owl:Class GO:0010889 biolink:NamedThing regulation of sequestering of triglyceride Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpak2llvmy_mondo_relaxed.owl regulation of sequestering of triacylglycerol|regulation of triacylglycerol sequestration owl:Class MONDO:0003059 biolink:NamedThing bile duct cancer A malignant neoplasm involving the bile duct tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of bile duct|malignant bile duct neoplasm|bile duct tumor|cancer of bile duct|Ca extrahepatic bile ducts|bile duct cancer|malignant neoplasm of the extrahepatic bile duct DOID:4606|ICD10:C24.0|ICD9:156.1 owl:Class CL:0000417 biolink:NamedThing endopolyploid cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000412 biolink:NamedThing polyploid cell A cell whose nucleus, or nuclei, each contain more than two haploid genomes. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0034758 biolink:NamedThing positive regulation of iron ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl upregulation of iron ion transport|up-regulation of iron ion transport|up regulation of iron ion transport|positive regulation of iron transport|activation of iron ion transport|stimulation of iron ion transport owl:Class GO:0043270 biolink:NamedThing positive regulation of ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl stimulation of ion transport|up regulation of ion transport|activation of ion transport|up-regulation of ion transport|upregulation of ion transport owl:Class MONDO:0037940 biolink:NamedThing inherited auditory system disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl auditory system hereditary disorder|inherited auditory system disease|hereditary auditory system disease UMLS:C1285174|SCTID:362991006 owl:Class UBERON:0005281 biolink:NamedThing ventricular system of central nervous system A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP]. tmpak2llvmy_mondo_relaxed.owl ventricular system of neuraxis|CNS ventricular system|ventricle system|ventriculi cerebri|ventricular system owl:Class MONDO:0016819 biolink:NamedThing Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl UMLS:C2931024|Orphanet:2560 owl:Class UBERON:0006865 biolink:NamedThing metaphysis of femur A metaphysis that is part of a femur. tmpak2llvmy_mondo_relaxed.owl femoral metaphysis owl:Class MONDO:0003861 biolink:NamedThing vulvar eccrine adenocarcinoma An eccrine adenocarcinoma that arises from the sweat glands in the vulva. tmpak2llvmy_mondo_relaxed.owl vulvar eccrine adenocarcinoma|eccrine carcinoma of mammalian vulva|mammalian vulva eccrine carcinoma NCIT:C40305|DOID:6339|UMLS:C2202743 owl:Class MONDO:0024240 biolink:NamedThing eccrine carcinoma An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma. tmpak2llvmy_mondo_relaxed.owl eccrine adenocarcinoma|eccrine carcinoma of skin|eccrine adenocarcinoma (morphologic abnormality)|carcinoma, eccrine gland, malignant|eccrine sweat gland carcinoma|eccrine sweat gland adenocarcinoma|carcinoma of eccrine sweat gland|eccrine carcinoma SCTID:400173004|UMLS:C1266066|ICDO:8413/3|UMLS:C1707878|NCIT:C27255|UMLS:C1302864|DOID:4920 owl:Class MONDO:0000895 biolink:NamedThing nonmucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. tmpak2llvmy_mondo_relaxed.owl DOID:0080186 owl:Class MONDO:0004991 biolink:NamedThing minimally invasive lung adenocarcinoma A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. tmpak2llvmy_mondo_relaxed.owl bronchiolo-alveolar adenocarcinoma|carcinoma, bronchioloalveolar, malignant|bronchiolo-alveolar carcinoma of the lung|bronchiolo-alveolar lung carcinoma|bac|bronchioalveolar adenocarcinoma of the lung|bronchioloalveolar adenocarcinoma of the lung|bronchioalveolar lung carcinoma|bronchioloalveolar lung adenocarcinoma|bronchioloalveolar carcinoma|bronchioloalveolar adenocarcinoma of lung|bronchioalveolar adenocarcinoma of lung|minimally invasive lung adenocarcinoma|bronchiolo-alveolar carcinoma of lung ICD9:162.9|DOID:4926|EFO:0000308|MESH:D002282|ICDO:8250/3|ICDO:8251/3|NCIT:C2923|SCTID:373627005 owl:Class MONDO:0100189 biolink:NamedThing apolipoprotein A-I deficiency A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). tmpak2llvmy_mondo_relaxed.owl familial hypoalphalipoproteinemia|familial apoA-I deficiency|ApoA-I deficiency Orphanet:425 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007823 biolink:NamedThing insulin receptors, familial increase 1N tmpak2llvmy_mondo_relaxed.owl insulin receptors, familial increase IN|insulin receptors, familial increase type 1N OMIM:147320 owl:Class GO:0045616 biolink:NamedThing regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042484 biolink:NamedThing disseminated sporotrichosis tmpak2llvmy_mondo_relaxed.owl disseminated sporotrichosis SCTID:91051003|UMLS:C0276725 owl:Class MONDO:0000256 biolink:NamedThing systemic mycosis A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. tmpak2llvmy_mondo_relaxed.owl systemic fungal infection UMLS:C0553576|DOID:0050136|ICD9:117.9|SCTID:399314004 owl:Class MONDO:0005846 biolink:NamedThing microsporidiosis A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. tmpak2llvmy_mondo_relaxed.owl infection by Microsporida|Microsporidia infection|infection by Microspora|Microsporidiasis|Microsporidia infectious disease|Microsporidia caused disease or disorder|infection by Microsporea|Microsporidia disease or disorder MedDRA:10053982|NCIT:C84891|EFO:0007366|MESH:D016881|SCTID:699676006|GARD:0003655|ICD9:117.9|Orphanet:2552|ICD10:B60.8|DOID:4271|UMLS:C0085407 https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis owl:Class UBERON:0005258 biolink:NamedThing upper arm mesenchyme Mesenchyme that is part of a developing forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021322 biolink:NamedThing malignant tumor of meninges A cancer that involves the meningeal cluster. tmpak2llvmy_mondo_relaxed.owl cancer of the meninges|meningeal cluster cancer|malignant neoplasms of meninges|cancer of meninges|malignant neoplasm of meninges|malignant neoplasm of meningeal cluster|cancer of meningeal cluster|malignant tumor of the meninges|meningeal tumors, malignant|malignant meningeal neoplasms|malignant neoplasm of the meninges|malignant meninges tumor|malignant meningeal cluster neoplasm|malignant meningeal tumor|malignant meninges neoplasm|meningeal cancer NCIT:C4628|SCTID:363497007|UMLS:C0348375 owl:Class MONDO:0000470 biolink:NamedThing endocardium disease A disease involving the endocardium. tmpak2llvmy_mondo_relaxed.owl disorder of endocardium|endocardium disease|endocardiopathy|endocardial disease|disease or disorder of endocardium|disease of endocardium|endocardium disease or disorder UMLS:C0854140|SCTID:123596001|DOID:0050825 owl:Class MONDO:0030866 biolink:NamedThing neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities tmpak2llvmy_mondo_relaxed.owl NEDCASB OMIM:619121 owl:Class UBERON:0003844 biolink:NamedThing upper eyelid epithelium An epithelium that is part of an upper eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of upper eyelid|epithelial tissue of superior eyelid|epithelium of superior eyelid|superior eyelid epithelium|upper eyelid epithelial tissue|epithelial tissue of upper eyelid|superior eyelid epithelial tissue owl:Class UBERON:0035034 biolink:NamedThing eyelid epithelium An epithelium that is part of an eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904677 biolink:NamedThing positive regulation of somatic stem cell division Any process that activates or increases the frequency, rate or extent of somatic stem cell division. tmpak2llvmy_mondo_relaxed.owl upregulation of somatic stem cell renewal|up regulation of somatic stem cell renewal|upregulation of somatic stem cell division|positive regulation of somatic stem cell renewal|up-regulation of somatic stem cell renewal|up regulation of somatic stem cell division|activation of somatic stem cell renewal|activation of somatic stem cell division|up-regulation of somatic stem cell division owl:Class GO:0051781 biolink:NamedThing positive regulation of cell division Any process that activates or increases the frequency, rate or extent of cell division. tmpak2llvmy_mondo_relaxed.owl up-regulation of cell division|upregulation of cell division|stimulation of cell division|activation of cell division|up regulation of cell division owl:Class UBERON:0003366 biolink:NamedThing epithelium of uterine horn An epithelium that is part of a uterine horn [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl uterine horn epithelial tissue|epithelial tissue of uterine horn|uterine horn epithelium owl:Class MONDO:0019115 biolink:NamedThing obesity due to melanocortin 4 receptor deficiency Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. tmpak2llvmy_mondo_relaxed.owl MC4R deficiency Orphanet:71529|NCIT:C120394|UMLS:C4273958|SCTID:717269008|ICD10:E66.8 owl:Class MONDO:0020075 biolink:NamedThing genetic non-syndromic obesity tmpak2llvmy_mondo_relaxed.owl monogenic obesity due to a leptin-melanocortin pathway anomaly|genetic isolated obesity|genetic non-syndromic obesity|monogenic isolated obesity Orphanet:98267 owl:Class CL:0000970 biolink:NamedThing unswitched memory B cell An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. tmpak2llvmy_mondo_relaxed.owl unswitched memory B-cell|unswitched memory B lymphocyte|unswitched memory B-lymphocyte|IgD+ memory B cell|non-class-switched memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class CL:0000787 biolink:NamedThing memory B cell A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. tmpak2llvmy_mondo_relaxed.owl memory B-lymphocyte|memory B-cell|memory B lymphocyte Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. cell owl:Class MONDO:0004056 biolink:NamedThing bladder papillary urothelial carcinoma An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003 tmpak2llvmy_mondo_relaxed.owl urothelial papillary carcinoma of the bladder|urinary bladder papillary transitional cell carcinoma|bladder papillary urothelial carcinoma|bladder urothelial papillary carcinoma DOID:6975|NCIT:C7383|UMLS:C1518882 owl:Class MONDO:0006350 biolink:NamedThing papillary transitional cell carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. tmpak2llvmy_mondo_relaxed.owl papillary transitional cell carcinoma (morphologic abnormality)|papillary transitional carcinoma NCIT:C4122|ICDO:8130/3|EFO:1000450|DOID:4012|UMLS:C0334274 owl:Class UBERON:0005363 biolink:NamedThing inferior vagus X ganglion the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve) tmpak2llvmy_mondo_relaxed.owl inferior vagus X|ganglion inferius (nervus vagus)|inferior ganglion of vagus nerve|inferior vagus ganglion|vagus X inferior ganglion|vagus nerve inferior ganglion|ganglion inferius nervi vagi|inferior ganglion of vagus|ganglion nodosum|tenth cranial nerve nodose ganglion|ganglion inferius nervus vagi|nodose ganglion|vagus nerve nodose ganglion|nodose ganglia owl:Class UBERON:0005362 biolink:NamedThing vagus X ganglion the group of sensory neuron cell bodies associated with the vagus nerve tmpak2llvmy_mondo_relaxed.owl vagus X|vagal ganglion|vagus ganglion|ganglion of vagus nerve|gX|vagus neural ganglion|right glossopharyngeal ganglion owl:Class MONDO:0004226 biolink:NamedThing diffuse intraductal papillomatosis tmpak2llvmy_mondo_relaxed.owl diffuse intraductal papillomatosis UMLS:C1377912|NCIT:C7364|DOID:7444 owl:Class MONDO:0021098 biolink:NamedThing papillomatosis Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. tmpak2llvmy_mondo_relaxed.owl papillomatosis NCIT:C3713 owl:Class MONDO:0018055 biolink:NamedThing pediatric hepatocellular carcinoma Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age. tmpak2llvmy_mondo_relaxed.owl pediatric hepatoma|childhood liver cell carcinoma|childhood hepatoma|pediatric HCC|childhood carcinoma of the liver cell|childhood-onset hepatocellular carcinoma|childhood hepatocellular carcinoma|childhood carcinoma of liver cell|childhood-onset HCC|pediatric carcinoma of liver cell|hepatocellular cancer|Pediatric carcinoma of the liver cell|pediatric liver cell carcinoma DOID:0070322|Orphanet:33402|GARD:0009331|UMLS:CN204349|NCIT:C7955|ICD10:C22.0 owl:Class MONDO:0011291 biolink:NamedThing congenital disorder of glycosylation type 1C A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3). tmpak2llvmy_mondo_relaxed.owl ALG6 congenital disorder of glycosylation|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|ALG6-CDG (CDG-Ic)|carbohydrate-deficient glycoprotein syndrome, type V, formerly|CDG1C|congenital disorder of glycosylation type 1C|CDGS5 (formerly)|CDG syndrome type Ic|CDGIc|carbohydrate deficient glycoprotein syndrome type Ic|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|CDG-Ic|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|carbohydrate-deficient glycoprotein syndrome, type V|congenital disorder of glycosylation caused by mutation in ALG6|ALG6-CDG|congenital disorder of glycosylation type 1c|CDG Ic|glucosyltransferase 1 deficiency|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|carbohydrate-deficient glycoprotein syndrome type 1C|congenital disorder of glycosylation type Ic|CDG 1C|congenital disorder of glycosylation, type Ic GARD:0009829|DOID:0080555|OMIM:603147|ICD10:E77.8|UMLS:C2930997|MESH:C535741|SCTID:709412006|Orphanet:79320|NCIT:C126869 owl:Class HGNC:11281 biolink:NamedThing SRA1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:52255 biolink:NamedThing hydroxylapatite A phosphate mineral with the formula Ca5(PO4)3(OH). tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:52254 biolink:NamedThing apatite A phosphate mineral with the general formula Ca5(PO4)3X where X = OH, F or Cl. tmpak2llvmy_mondo_relaxed.owl hydroxyapatite owl:Class MONDO:0019288 biolink:NamedThing skin pigmentation disease A pigmentation disease that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl pigmentation disease of zone of skin|pigmentation anomaly of the skin|pigmentation disease|zone of skin pigmentation disease DOID:10123|ICD9:709.09|Orphanet:79374|MESH:D010859|EFO:1000755 owl:Class MONDO:0008796 biolink:NamedThing aniridia-renal agenesis-psychomotor retardation syndrome Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. tmpak2llvmy_mondo_relaxed.owl aniridia, partial, with unilateral renal agenesis and psychomotor retardation|Sommer Rathbun Battles syndrome|aniridia renal agenesis psychomotor retardation|Sommer-Rathbun-Battles syndrome|aniridia partial with unilateral renal agenesis and psychomotor retardation UMLS:C1859782|OMIM:206750|Orphanet:1064|ICD10:Q87.8|SCTID:733116005|GARD:0000690|MESH:C000598722 owl:Class GO:0060377 biolink:NamedThing negative regulation of mast cell differentiation Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002762 biolink:NamedThing negative regulation of myeloid leukocyte differentiation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. tmpak2llvmy_mondo_relaxed.owl down-regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|downregulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation owl:Class UBERON:2002162 biolink:NamedThing ural vertebra Vertebra that is incomplete or rudimentary and may bear a rudimentary neural arch and sometimes a rudimentary spine or the neural arch and spine are completely absent. Ural vertebrae are one of the last bony elements of the vertebral column, usually smaller than the preural centra. Ural vertebrae are numbered beginning from anterior (1) to posterior (2, 3, 4, etc.). Ural vertebra is an unpaired median bone. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004376 biolink:NamedThing fin bone A bone that is part of a fin [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone of fin owl:Class MONDO:0005197 biolink:NamedThing thymus neoplasm A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. tmpak2llvmy_mondo_relaxed.owl thymic neoplasm|tumor of thymus|THYMUS|Thymus neoplasm|thymus neoplasm (disease)|thymus tumor|thymic tumor|neoplasm of thymus|neoplasm of the Thymus|tumor of Thymus|neoplasm of Thymus|tumor of the Thymus|Thymus tumor NCIT:C3412|EFO:0002626|Orphanet:100100|SCTID:127231009|ICD9:239.89|ONCOTREE:THYMUS|UMLS:C3714644 owl:Class MONDO:0021350 biolink:NamedThing neoplasm of thorax A neoplasm (disease) that involves the thoracic segment of trunk. tmpak2llvmy_mondo_relaxed.owl neoplasm of the thorax|thoracic segment of trunk neoplasm (disease)|thoracic segment of trunk tumor|tumor of thoracic segment of trunk|thoracic neoplasm|tumor of the thorax|neoplasm of thoracic segment of trunk|thoracic tumor|thoracic segment of trunk neoplasm|tumor of thorax ICD9:239.89|NCIT:C3406|SCTID:255058005|UMLS:C0039981 owl:Class MONDO:0013971 biolink:NamedThing leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 12|leukoencephalopathy with thalamus and brainstem involvement and high lactate|COXPD12|combined oxidative phosphorylation deficiency type 12|EARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in EARS2|leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|LTBL|combined oxidative phosphorylation defect type 12 OMIM:614924|SCTID:763366000|GARD:0013381|UMLS:C3554079|DOID:0111493|Orphanet:314051 owl:Class GO:0048636 biolink:NamedThing positive regulation of muscle organ development Any process that activates, maintains or increases the rate of muscle development. tmpak2llvmy_mondo_relaxed.owl up-regulation of muscle development|upregulation of muscle development|up regulation of muscle development|stimulation of muscle development|activation of muscle development owl:Class GO:0048634 biolink:NamedThing regulation of muscle organ development Any process that modulates the frequency, rate or extent of muscle development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014326 biolink:NamedThing nemaline myopathy 9 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy caused by mutation in KLHL41|NEM9|KLHL41 nemaline myopathy|nemaline myopathy 9|nemaline myopathy type 9 UMLS:C3810384|OMIM:615731|DOID:0110929 owl:Class GO:1902667 biolink:NamedThing regulation of axon guidance Any process that modulates the frequency, rate or extent of axon guidance. tmpak2llvmy_mondo_relaxed.owl regulation of axon growth cone guidance|regulation of axon chemotaxis|regulation of axon pathfinding owl:Class GO:0050920 biolink:NamedThing regulation of chemotaxis Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043129 biolink:NamedThing surfactant homeostasis Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048875 biolink:NamedThing chemical homeostasis within a tissue Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004505 biolink:NamedThing central breast papilloma A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. tmpak2llvmy_mondo_relaxed.owl solitary intraductal breast papilloma|large duct breast papilloma DOID:8224|NCIT:C36087|UMLS:C1332896 owl:Class MONDO:0021097 biolink:NamedThing intraductal breast papilloma A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. tmpak2llvmy_mondo_relaxed.owl papilloma of breast|breast duct papilloma|breast papilloma|duct papilloma of breast|intraductal papilloma of breast|mammary duct papilloma|intraductal papilloma of the breast|duct papilloma of the breast|papilloma of the breast|ductal breast papilloma|intraductal breast papilloma EFO:1000306|SCTID:99571000119102|DOID:1626|NCIT:C3863|SCTID:254848002 owl:Class UBERON:0000107 biolink:NamedThing cleavage stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000003 biolink:NamedThing occurrent An entity that has temporal parts and that happens, unfolds or develops through time.|An entity that has temporal parts and that happens, unfolds or develops through time. tmpak2llvmy_mondo_relaxed.owl Occurrent occurrent BFO 2 Reference: s-dependence obtains between every process and its participants in the sense that, as a matter of necessity, this process could not have existed unless these or those participants existed also. A process may have a succession of participants at different phases of its unfolding. Thus there may be different players on the field at different times during the course of a football game; but the process which is the entire game s-depends_on all of these players nonetheless. Some temporal parts of this process will s-depend_on on only some of the players.|Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame.|Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process.|BFO 2 Reference: every occurrent that is not a temporal or spatiotemporal region is s-dependent on some independent continuant that is not a spatial region An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002]) (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] |(forall (x) (if (Occurrent x) (exists (r) (and (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion x r))))) // axiom label in BFO2 CLIF: [108-001] b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001])|Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001]) owl:Class MONDO:0020659 biolink:NamedThing upper tract urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl UTUC|transitional cell carcinoma of the upper urinary tract|transitional cell carcinoma of the pelvis and ureter Orphanet:598216|ONCOTREE:UTUC owl:Class MONDO:0020654 biolink:NamedThing renal pelvis/ureter urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. tmpak2llvmy_mondo_relaxed.owl renal pelvis and ureter TCC|TCC of the renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma|transitional cell carcinoma of renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|renal pelvis and ureter transitional cell cancer|transitional cell cancer of renal pelvis and ureter|TCC of renal pelvis and ureter|transitional cell cancer of the renal pelvis and ureter|urothelial carcinoma of the renal pelvis and ureter NCIT:C7716 owl:Class MONDO:0021392 biolink:NamedThing polyp of large intestine A polyp that involves the large intestine. tmpak2llvmy_mondo_relaxed.owl polyp of the large intestine|colorectal polyp|large bowel polyp|polyp of large bowel|polyp of the large bowel|large intestine polyp NCIT:C5679|SCTID:399505005|UMLS:C0949059 owl:Class MONDO:0024634 biolink:NamedThing large intestine disease A disease that involves the large intestine. tmpak2llvmy_mondo_relaxed.owl disease or disorder of large intestine|disorder of large intestine|large intestine disease or disorder|disease of large intestine SCTID:119523007|UMLS:C0341321 owl:Class GO:0099160 biolink:NamedThing postsynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045111 biolink:NamedThing intermediate filament cytoskeleton Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011014 biolink:NamedThing pleuropulmonary blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. tmpak2llvmy_mondo_relaxed.owl pleuropulmonary blastoma|pediatric pulmonary blastoma|pulmonary blastoma of childhood|PPB|pleuropulmonary blastoma (morphologic abnormality)|PPB familial tumor and dysplasia syndrome|childhood pulmonary blastoma UMLS:C1266144|ICD10:C34.9|Orphanet:64742|ICDO:8973/3|ICD10:C34.3|ICD10:C34.1|SCTID:707670009|ONCOTREE:PPB|NCIT:C5669|OMIM:601200|UMLS:CN072455|GARD:0008757|DOID:4769|ICD10:C34.2|EFO:0009052|ICD9:162.9|MESH:C537516 owl:Class HP:0004308 biolink:NamedThing Ventricular arrhythmia tmpak2llvmy_mondo_relaxed.owl Ventricular arrhythmias SNOMEDCT_US:44103008|UMLS:C0085612 peter 2008-02-20T01:28:00Z human_phenotype owl:Class HP:0011675 biolink:NamedThing Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. tmpak2llvmy_mondo_relaxed.owl Arrhythmias|Cardiac rhythm disturbances|Abnormal heart rate|Irregular heartbeat|Irregular heart beat|Cardiac arrhythmia|Cardiac arrhythmias|Heart rhythm disorders SNOMEDCT_US:44808001|UMLS:C0855329|MSH:D001145|MSH:C562490|SNOMEDCT_US:698247007|SNOMEDCT_US:102594003|UMLS:C0522055|UMLS:C1842820|UMLS:C1832603|UMLS:C0003811|UMLS:C0264886 peter 2012-04-09T12:47:32Z HP:0001656|HP:0004351|HP:0001687|HP:0001661|HP:0001721|HP:0001666|HP:0005158|HP:0001675|HP:0001665 human_phenotype owl:Class MONDO:0012134 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy, juvenile, susceptibility to, 3|EJM3 UMLS:C1837308|DOID:0111326|OMIM:608816 owl:Class MONDO:0015592 biolink:NamedThing limbic encephalitis with LGI1 antibodies Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. tmpak2llvmy_mondo_relaxed.owl limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies ICD10:G13.1|Orphanet:163908|SCTID:763794005|ICD10:G04.8 owl:Class MONDO:0015594 biolink:NamedThing non-paraneoplastic limbic encephalitis tmpak2llvmy_mondo_relaxed.owl Orphanet:163918 owl:Class UBERON:0034898 biolink:NamedThing alveolar ridge of premaxilla The thickened ridge of bone that contains the tooth sockets on the premaxilla. tmpak2llvmy_mondo_relaxed.owl pars dentalis of premaxilla owl:Class UBERON:0004103 biolink:NamedThing alveolar ridge one of the two jaw ridges either on the roof of the mouth between the upper teeth and the hard palate or on the bottom of the mouth behind the lower teeth[WP]. The alveolar ridges contain the sockets (alveoli) of the teeth[HP]. tmpak2llvmy_mondo_relaxed.owl margo alveolaris|alveolar bone|alveolar body|alveolar margin|alveolar process owl:Class MONDO:0014248 biolink:NamedThing autism spectrum disorder - epilepsy - arthrogryposis syndrome SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). tmpak2llvmy_mondo_relaxed.owl AMRS|arthrogryposis, mental retardation, and seizures|arthrogryposis, intellectual disability, and seizures|SLC35A3-CDG UMLS:C3809910|ICD10:Q87.8|OMIM:615553|Orphanet:370943 owl:Class NCBITaxon:721813 biolink:NamedThing Maleae tmpak2llvmy_mondo_relaxed.owl Pyreae|Pyrodae GC_ID:1 NCBITaxon:721812 ncbi_taxonomy owl:Class HGNC:379 biolink:NamedThing AKAP9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007516 biolink:NamedThing ectrodactyly and ectodermal dysplasia without cleft lip/palate tmpak2llvmy_mondo_relaxed.owl EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate Orphanet:1888|UMLS:C1851849|OMIM:129810|MESH:C565065 owl:Class MONDO:0016993 biolink:NamedThing generalized peeling skin syndrome type C tmpak2llvmy_mondo_relaxed.owl peeling skin syndrome type C|generalized deciduous skin type C ICD10:Q80.8|Orphanet:263558|UMLS:CN202307 owl:Class MONDO:0008684 biolink:NamedThing Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. tmpak2llvmy_mondo_relaxed.owl WOLF-Hirschhorn syndrome|telomeric deletion 4p|Wolf syndrome|Pitt syndrome|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|distal deletion 4p|Pitt-Rogers-Danks syndrome|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation|4p deletion syndrome|chromosome 4p16.3 deletion syndrome|4p- syndrome|WHS|Wolf-Hirschhorn syndrome|4p syndrome|Wittwer syndrome|distal monosomy 4p UMLS:C0796117|GARD:0007896|SCTID:718226002|DOID:0050460|UMLS:C1956097|MedDRA:10050361|OMIM:194190|MESH:D054877|UMLS:C0796202|Orphanet:280|NCIT:C35528|UMLS:CN207113|ICD10:Q93.3 https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome owl:Class GO:0006024 biolink:NamedThing glycosaminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. tmpak2llvmy_mondo_relaxed.owl glycosaminoglycan synthesis|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan formation owl:Class GO:0006023 biolink:NamedThing aminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpak2llvmy_mondo_relaxed.owl aminoglycan synthesis|aminoglycan formation|aminoglycan biosynthesis|aminoglycan anabolism owl:Class MONDO:0002661 biolink:NamedThing uveal disease A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. tmpak2llvmy_mondo_relaxed.owl uveal disease|disease of uvea|uveal disorder|uvea disease|disease or disorder of uvea|uvea disease or disorder|uveal diseases|uveal tract disease|disorder of uvea|disorder of uveal tract SCTID:95678007|UMLS:C0042161|GARD:0008192|MESH:D014603|NCIT:C26908|DOID:3480 owl:Class HGNC:4237 biolink:NamedThing GFI1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002006 biolink:NamedThing liquid water An environmental material primarily composed of dihydrogen oxide in its liquid form. tmpak2llvmy_mondo_relaxed.owl water owl:Class ENVO:01000815 biolink:NamedThing liquid environmental material An environmental material which is in a liquid state. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001911 biolink:NamedThing mammary gland A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. tmpak2llvmy_mondo_relaxed.owl mamma|lobe of breast|Brustdruese|lactiferous gland|glandula mammaria|mammae|lobe of mammary gland|milk patch|dug owl:Class FOODON:03420127 biolink:NamedThing animal body or body part Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031336 biolink:NamedThing negative regulation of sulfur amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpak2llvmy_mondo_relaxed.owl negative regulation of sulfur amino acid metabolism|inhibition of sulfur amino acid metabolic process|down-regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process owl:Class GO:0051175 biolink:NamedThing negative regulation of sulfur metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpak2llvmy_mondo_relaxed.owl down-regulation of sulfur metabolic process|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|down regulation of sulfur metabolic process|inhibition of sulfur metabolic process|negative regulation of sulfur metabolism|downregulation of sulfur metabolic process owl:Class MONDO:0043004 biolink:NamedThing Weil's disease A jauncice caused by severe leptospirosis. tmpak2llvmy_mondo_relaxed.owl Weil disease|spirochetal jaundice|weil's disease|disease, Weil's|Weil's disease|leptospirosis, icterohemorrhagic|disease, Weil|Icterohemorrhagic leptospirosis|icteric leptospirosis|Weils disease|jaundice, spirochetal SCTID:398067003|MESH:D014895 owl:Class MONDO:0005825 biolink:NamedThing leptospirosis A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. tmpak2llvmy_mondo_relaxed.owl hemorrhagic jaundice|Stuttgart disease|cane cutter's fever|Leptospira disease or disorder|harvest fever|Weil disease|leptospirosis icterohaemorrhagica|seven day fever|Queensland fever|mud fever|fort Bragg fever|spirochetal jaundice|leptospirosis|Leptospira infectious disease|swineherd's disease|infection due to Leptospira|Leptospira caused disease or disorder|japanese autumnal fever|cane-cutter fever|rice-field worker's disease|rice-field fever|Icterohemorrhagic fever|canicola fever|swamp fever|nanukayami fever|rat catcher's yellows MESH:D007922|ICD9:100.9|UMLS:C0023364|Orphanet:509|ICD10:A27|ICD10:A27.0|ICD9:100.0|ICD10:A27.8|NCIT:C84825|ICD9:100|SCTID:77377001|MedDRA:10024238|EFO:0007344|DOID:2297|ICD10:A27.9|GARD:0007881|ICD9:100.89 https://rarediseases.info.nih.gov/diseases/7881/leptospirosis owl:Class CHEBI:46963 biolink:NamedThing 2-aminooctadecene-1,3-diol An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. tmpak2llvmy_mondo_relaxed.owl 2-aminooctadecene-1,3-diol|2-aminooctadecene-1,3-diols owl:Class CHEBI:35785 biolink:NamedThing sphingoid Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds. tmpak2llvmy_mondo_relaxed.owl sphingoid|Spd|sphingoids|sphingoid base|sphingoid bases owl:Class HGNC:11201 biolink:NamedThing SOX5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035652 biolink:NamedThing fibular nerve Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches tmpak2llvmy_mondo_relaxed.owl peroneal nerve owl:Class MONDO:0002361 biolink:NamedThing transverse colon cancer A malignant neoplasm involving the transverse colon. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of transverse colon|cancer of transverse colon|malignant transverse colon neoplasm|transverse colon cancer|Ca transverse colon|malignant tumor of transverse colon SCTID:363408006|UMLS:C0153434|DOID:261|ICD10:C18.4|ICD9:153.1 owl:Class MONDO:0003297 biolink:NamedThing gallbladder leiomyoma A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of gall bladder|leiomyoma of gallbladder|gallbladder leiomyoma|gall bladder leiomyoma|leiomyoma of the gallbladder DOID:5140|NCIT:C5747|UMLS:C1333745 owl:Class GO:0000228 biolink:NamedThing nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpak2llvmy_mondo_relaxed.owl nuclear interphase chromosome owl:Class MONDO:0004131 biolink:NamedThing anal verrucous carcinoma A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl anal verrucous carcinoma|anal Buschke-Lowenstein tumor|anal giant (malignant) condyloma NCIT:C7470|DOID:7175|UMLS:C1332278 owl:Class MONDO:0006082 biolink:NamedThing anal squamous cell carcinoma A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the anus|squamous cell carcinoma - anus|squamous cell carcinoma of the anus|ANSC|anal squamous cell carcinoma|squamous cell anal carcinoma|epidermoid carcinoma of anus|epidermoid anal carcinoma|squamous cell carcinoma of anus|anal squamous cell cancer|anus squamous cell carcinoma ONCOTREE:ANSC|DOID:5525|NCIT:C9161|UMLS:C1412036|EFO:1000081 owl:Class GO:0050769 biolink:NamedThing positive regulation of neurogenesis Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpak2llvmy_mondo_relaxed.owl activation of neurogenesis|up-regulation of neurogenesis|stimulation of neurogenesis|up regulation of neurogenesis|upregulation of neurogenesis owl:Class GO:0051962 biolink:NamedThing positive regulation of nervous system development Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpak2llvmy_mondo_relaxed.owl activation of nervous system development|up-regulation of nervous system development|up regulation of nervous system development|upregulation of nervous system development|stimulation of nervous system development owl:Class MONDO:0014681 biolink:NamedThing thyroid cancer, nonmedullary, 4 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene. tmpak2llvmy_mondo_relaxed.owl thyroid cancer, nonmedullary, 4|thyroid cancer, nonmedullary, type 4|FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary caused by mutation in FOXE1|NMTC4 UMLS:C4225293|OMIM:616534 owl:Class MONDO:0017896 biolink:NamedThing familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. tmpak2llvmy_mondo_relaxed.owl thyroid cancer, nonmedullary UMLS:CN227216|ICD10:C73|UMLS:C3501843|OMIMPS:188550|Orphanet:319494 Note the OMIM phenotypic series lacks a member classified by ORDO owl:Class FOODON:03420164 biolink:NamedThing part of animal Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017244 biolink:NamedThing pseudoxanthomatous diffuse cutaneous mastocytosis Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. tmpak2llvmy_mondo_relaxed.owl Pseudoxanthomatous DCM|infiltrative small vesicular diffuse cutaneous mastocytosis|infiltrative small vesicular DCM Orphanet:280794|ICD10:Q82.2 owl:Class MONDO:0019315 biolink:NamedThing diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM). tmpak2llvmy_mondo_relaxed.owl diffuse cutaneous maculopapulous mastocytosis|DCM|diffuse cutaneous mastocytosis MedDRA:10012812|NCIT:C3218|DOID:3665|ICDO:9740/1|GARD:0012686|UMLS:C0024901|Orphanet:79456|ICD10:Q82.2 owl:Class UBERON:0001918 biolink:NamedThing endothelium of venule An endothelium that is part of a venule [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl venule endothelium owl:Class UBERON:0004701 biolink:NamedThing venous system endothelium An endothelium that is part of a venous system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005665 biolink:NamedThing 3rd arch endoderm An endoderm that is part of a pharyngeal arch 3. tmpak2llvmy_mondo_relaxed.owl 3rd pharyngeal arch endoderm owl:Class UBERON:0000925 biolink:NamedThing endoderm Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. tmpak2llvmy_mondo_relaxed.owl entoderm owl:Class UBERON:0003615 biolink:NamedThing lung elastic tissue Elastic tissue that is part of a lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lung elastic connective tissue|textus connectivus elasticus of lung|elastic tissue of lung|elastic connective tissue of lung|lung textus connectivus elasticus|pulmonary elastic fiber owl:Class MONDO:0010682 biolink:NamedThing myoclonic epilepsy, progressive, X-linked tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy, progressive OMIM:310370 TODO check owl:Class CHEBI:76206 biolink:NamedThing xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. tmpak2llvmy_mondo_relaxed.owl xenobiotic metabolites owl:Class CHEBI:25212 biolink:NamedThing metabolite Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. tmpak2llvmy_mondo_relaxed.owl primary metabolites|metabolite|metabolites|secondary metabolites owl:Class MONDO:0020470 biolink:NamedThing 49,XYYYY syndrome 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. tmpak2llvmy_mondo_relaxed.owl Orphanet:99330|SCTID:734028007|UMLS:CN207332|UMLS:C4518342|ICD10:Q98.8 owl:Class MONDO:0009719 biolink:NamedThing familial atrial myxoma tmpak2llvmy_mondo_relaxed.owl atrial Myxoma, familial|intracardiac myxoma|MYXOMA, intracardiac ICD10:D15.1|UMLS:C1850635|GARD:0000139|MESH:C538262|SCTID:233855002|OMIM:255960|Orphanet:615 https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial owl:Class MONDO:0017129 biolink:NamedThing inherited cardiac tumor An instance of heart cancer that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic cardiac tumor|genetic heart tumor|hereditary heart neoplasm Orphanet:271841|UMLS:CN202528 owl:Class MONDO:0020647 biolink:NamedThing microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome tmpak2llvmy_mondo_relaxed.owl MFRG|microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM:618142 owl:Class GO:0043217 biolink:NamedThing myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007009 biolink:NamedThing plasma membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl plasma membrane organization and biogenesis|plasma membrane organisation owl:Class MONDO:0010631 biolink:NamedThing incontinentia pigmenti Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). tmpak2llvmy_mondo_relaxed.owl Bloch-Siemens syndrome|Incontinentia pigmenti, type II, formerly|Incontinentia pigmenti syndrome|Incontinentia pigmenti type 2 (formerly)|Incontinentia pigmenti, type II|IP|Incontinentia pigmenti, familial Male-lethal type|IP2 (formerly)|incontinentia pigmenti|Bloch-Sulzberger syndrome OMIM:308300|NCIT:C84787|Orphanet:464|DOID:12305|GARD:0006778|Wikipedia:Incongenita_pigmenti|ICD10:Q82.3|MESH:D007184|UMLS:C0021171|SCTID:367520004|EFO:1000672 owl:Class MONDO:0020233 biolink:NamedThing dentocutaneous disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98649|UMLS:CN207061 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: integumentary system disease' MONDO_0002051 owl:Class GO:2001224 biolink:NamedThing positive regulation of neuron migration Any process that activates or increases the frequency, rate or extent of neuron migration. tmpak2llvmy_mondo_relaxed.owl positive regulation of neuron guidance|positive regulation of neuronal migration|positive regulation of neuron chemotaxis owl:Class MONDO:0033546 biolink:NamedThing neurodegeneration, infantile-onset, biotin-responsive tmpak2llvmy_mondo_relaxed.owl NERIB|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|Smvt Deficiency|Sodium-Dependent Multivitamin Transporter Deficiency OMIM:618973 owl:Class MONDO:0013608 biolink:NamedThing Joubert syndrome 13 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. tmpak2llvmy_mondo_relaxed.owl JBTS13|Joubert syndrome type 13|Joubert syndrome 13|TCTN1 Joubert syndrome|Joubert syndrome caused by mutation in TCTN1 OMIM:614173|UMLS:C3280031|DOID:0110982 owl:Class MONDO:0005635 biolink:NamedThing adenomyoma A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. tmpak2llvmy_mondo_relaxed.owl adenomyoma (morphologic abnormality)|adenomyoma|adenomyoma, benign MESH:D018194|EFO:0007133|ICDO:8932/0|NCIT:C3726|UMLS:C0206622|DOID:2609 owl:Class MONDO:0000624 biolink:NamedThing benign female reproductive system neoplasm A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor. tmpak2llvmy_mondo_relaxed.owl female reproductive organ benign neoplasm|benign female reproductive system tumor|benign gynecologic tumor|benign female reproductive system neoplasm|benign gynecologic neoplasm NCIT:C4934|DOID:0060086|UMLS:C0744514 owl:Class MONDO:0013643 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 3 tmpak2llvmy_mondo_relaxed.owl hyperuricemic nephropathy, familial juvenile, 3|HNFJ3 UMLS:C3280216|OMIM:614227 owl:Class HGNC:10468 biolink:NamedThing RTN2 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000240 biolink:NamedThing chromosome_variation A deviation in chromosome structure or number. tmpak2llvmy_mondo_relaxed.owl chromosome variation owl:Class MONDO:0019404 biolink:NamedThing perineurioma A usually benign perineurioma not associated with a nerve, arising from the soft tissues. tmpak2llvmy_mondo_relaxed.owl soft tissue perineurioma|perineurioma NCIT:C4973|Orphanet:85102|DOID:4697|ICD9:215.9|SCTID:404036006|ICDO:9571/0|GARD:0012698|UMLS:C0751691|ICD10:C47.9 https://rarediseases.info.nih.gov/diseases/12698/perineurioma owl:Class MONDO:0002547 biolink:NamedThing nerve sheath neoplasm A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor. tmpak2llvmy_mondo_relaxed.owl peripheral nerve sheath neoplasm|nerve sheath tumour|tumor of nerve sheath|neoplasm of nerve sheath|nerve sheath neoplasm|nerve sheath tumor|neoplasm of the nerve sheath DOID:3193|NCIT:C4972|MESH:D018317|ONCOTREE:NST owl:Class CHEBI:75769 biolink:NamedThing B vitamin Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). tmpak2llvmy_mondo_relaxed.owl B vitamins|B-group vitamin|vitamin B|B-group vitamins owl:Class CHEBI:36963 biolink:NamedThing organooxygen compound An organochalcogen compound containing at least one carbon-oxygen bond. tmpak2llvmy_mondo_relaxed.owl organooxygen compound|organooxygen compounds owl:Class GO:0045829 biolink:NamedThing negative regulation of isotype switching Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. tmpak2llvmy_mondo_relaxed.owl inhibition of isotype switching|negative regulation of class switching|down regulation of isotype switching|negative regulation of isotype switch recombination|downregulation of isotype switching|negative regulation of class switch recombination|down-regulation of isotype switching owl:Class HGNC:11714 biolink:NamedThing TEAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024352 biolink:NamedThing viral respiratory tract infection A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. tmpak2llvmy_mondo_relaxed.owl viral respiratory tract infection NCIT:C27219|SCTID:312133006|ICD9:519.8 owl:Class MONDO:0024355 biolink:NamedThing respiratory tract infectious disease Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. tmpak2llvmy_mondo_relaxed.owl respiratory infection, upper|infections, respiratory tract|upper respiratory tract infections|respiratory tract infection|respiratory infections|upper respiratory infections|infections, respiratory|infection, respiratory tract|infections, upper respiratory|infections, upper respiratory tract ICD9:519.8|MESH:D012141|SCTID:275498002 owl:Class UBERON:0009630 biolink:NamedThing root of thoracic nerve A spinal nerve root that is part of a thoracic nerve. tmpak2llvmy_mondo_relaxed.owl thoracic nerve root|nerve root part of thoracic spinal cord|thoracic neural root owl:Class UBERON:0009623 biolink:NamedThing spinal nerve root The paired bundles of nerve fibers entering and leaving the spinal cord at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots efferent, comprising the axons of spinal motor and autonomic preganglionic neurons. There are, however, some exceptions to this afferent/efferent rule. tmpak2llvmy_mondo_relaxed.owl spinal neural root|root of spinal nerve|spinal root owl:Class MONDO:0008401 biolink:NamedThing pleomorphic adenoma A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). tmpak2llvmy_mondo_relaxed.owl Psa|salivary gland adenoma, pleomorphic|pleomorphic adenoma|pleomorphic salivary gland adenoma|tumor, mixed, benign|mixed tumor of the salivary gland|Sgpa|pleomorphic adenoma (morphologic abnormality) ICD10:D11.0|ICDO:8940/0|SCTID:447888006|OMIM:181030|EFO:1000384|Orphanet:454821|DOID:452|MESH:D008949|NCIT:C8602 owl:Class GO:0090155 biolink:NamedThing negative regulation of sphingolipid biosynthetic process Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis owl:Class MONDO:0013999 biolink:NamedThing optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. tmpak2llvmy_mondo_relaxed.owl splenomegaly, cytopenia, and vision loss UMLS:C3554278|Orphanet:313800|OMIM:614979 owl:Class MONDO:0020249 biolink:NamedThing hereditary optic neuropathy tmpak2llvmy_mondo_relaxed.owl MedDRA:10061323|Orphanet:98671 owl:Class MONDO:0006499 biolink:NamedThing hamartoma A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. tmpak2llvmy_mondo_relaxed.owl hamartoma|hamartoma (disease) hamartoma (disease) MESH:D006222|NCIT:C3075|ICD9:759.6|UMLS:C0018552|HP:0010566|EFO:1000634|SCTID:400006008 owl:Class CL:0000214 biolink:NamedThing synovial cell A meso-epithelial cell that lies between the cartilaginous fibers in the synovial membrane of a joint and produces hyaluronic acid. tmpak2llvmy_mondo_relaxed.owl hyaluronic acid secreting cell|synoviocyte FMA:66786|CALOHA:TS-0995|BTO:0003652 cell owl:Class MONDO:0016840 biolink:NamedThing trisomy 17p Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. tmpak2llvmy_mondo_relaxed.owl chromosome 17p duplication|dup(17p)|17p trisomy|17p duplication|Duplication 17p|partial trisomy 17p|trisomy type 17p GARD:0005318|ICD10:Q92.2|Orphanet:261290|MESH:C538048|UMLS:C0795865|SCTID:717049005 owl:Class MONDO:0016950 biolink:NamedThing partial duplication of the short arm of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 17p|partial trisomy of the short arm of chromosome 17|partial duplication of chromosome 17p|partial duplication of the short arm of chromosome type 17 Orphanet:262803 owl:Class UBERON:0001152 biolink:NamedThing cystic duct the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct tmpak2llvmy_mondo_relaxed.owl ductus cysticus owl:Class UBERON:0011850 biolink:NamedThing acinus of salivary gland An acinus that is part of a salivary gland. tmpak2llvmy_mondo_relaxed.owl salivary gland acinus owl:Class UBERON:0011858 biolink:NamedThing acinus of exocrine gland An acinus that is part of a exocrine gland. tmpak2llvmy_mondo_relaxed.owl exocrine gland acinus owl:Class GO:0042368 biolink:NamedThing vitamin D biosynthetic process The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl vitamin D biosynthesis|calciferol biosynthetic process|vitamin D synthesis|cholecalciferol biosynthesis|vitamin D formation|calciferol biosynthesis|vitamin D anabolism|cholecalciferol biosynthetic process|ergocalciferol biosynthetic process|ergocalciferol biosynthesis owl:Class MONDO:0008837 biolink:NamedThing ataxia, deafness, and cardiomyopathy tmpak2llvmy_mondo_relaxed.owl ataxia, deafness, and cardiomyopathy UMLS:C1859645|MESH:C565932|OMIM:208750 owl:Class MONDO:0000321 biolink:NamedThing typhoidal tularemia A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. tmpak2llvmy_mondo_relaxed.owl UMLS:C0473876|SCTID:398554008|DOID:0050383 owl:Class MONDO:0024648 biolink:NamedThing optic tract meningioma A meningioma that affects the visual pathway. tmpak2llvmy_mondo_relaxed.owl optic tract meningioma|optic tract meningioma (disease)|visual pathway meningioma|meningioma of the visual pathway|meningioma of the optic tract|meningioma (disease) of optic tract|meningioma of optic tract|meningioma of visual pathway NCIT:C5587|UMLS:C1336972 owl:Class GO:0003012 biolink:NamedThing muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. tmpak2llvmy_mondo_relaxed.owl muscle physiological process owl:Class MONDO:0001242 biolink:NamedThing disseminated intravascular coagulation in newborn A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. tmpak2llvmy_mondo_relaxed.owl disseminated intravascular coagulation in newborn|neonatal disseminated intravascular coagulation|DIC in newborn ICD9:776.2|ICD10:P60|SCTID:34417008|NCIT:C111856|DOID:11246|UMLS:C0158992 owl:Class MONDO:0001243 biolink:NamedThing disseminated intravascular coagulation A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. tmpak2llvmy_mondo_relaxed.owl intravascular coagulation (DIC), disseminated|defibrination syndrome|disseminated intravascular coagulation|diffuse or disseminated intravascular coagulation|coagulation (DIC), disseminated intravascular|DIC, disseminated intravascular coagulation|DIC|consumptive coagulopathy|disseminated intravascular coagulation (DIC) ICD9:286.6|NCIT:C2992|UMLS:C4321305|MESH:D004211|UMLS:C0012739|SCTID:67406007|DOID:11247|ICD10:D65 owl:Class UBERON:0005133 biolink:NamedThing metanephric glomerulus vasculature The metanephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the metanephric glomerulus[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004190 biolink:NamedThing renal glomerulus vasculature The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus tmpak2llvmy_mondo_relaxed.owl vasculature of renal glomerulus|glomerulus vasculature|vascular network of renal glomerulus|renal glomerulus vascular network|renal glomerulus vasculature owl:Class MONDO:0005533 biolink:NamedThing distal colitis Particular variety of ulcerative colitis where only the left half of the colon is inflamed. tmpak2llvmy_mondo_relaxed.owl left colon inflammation|inflammation of left colon ICD9:558.9|SCTID:373639002|UMLS:C0860168|EFO:0005623 owl:Class MONDO:0009777 biolink:NamedThing Oliver syndrome Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. tmpak2llvmy_mondo_relaxed.owl postaxial polydactyly and mental retardation|Oliver syndrome|postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and intellectual disability ICD10:Q87.2|GARD:0004069|UMLS:C1850320|OMIM:258200|SCTID:721017000|Orphanet:2920|MESH:C564931 https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome owl:Class MONDO:0014227 biolink:NamedThing hypopigmentation-punctate palmoplantar keratoderma syndrome tmpak2llvmy_mondo_relaxed.owl Cole disease|guttate hypopigmentation and punctate palmoplantar keratoderma|guttate hypopigmentation|punctate palmoplantar keratoderma with or without ectopic calcification|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification|COLED|hypopigmentation and punctate keratosis of the palms and soles|COLE disease Orphanet:324561|SCTID:711154007|ICD9:757.39|GARD:0012384|ICD10:Q82.8|OMIM:615522|UMLS:C3809781 owl:Class MONDO:0100031 biolink:NamedThing adolescent/adult onset autosomal dominant epilepsy with auditory features A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpak2llvmy_mondo_relaxed.owl autosomal dominant partial/lateral temporal epilepsy with auditory features 2018-06-23 01:47:18+00:00 owl:Class MONDO:0010898 biolink:NamedThing Autosomal dominant epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 1|autosomal dominant epilepsy with auditory features|ADLTE|autosomal dominant lateral temporal lobe epilepsy|familial temporal lobe epilepsy 1|epilepsy, lateral temporal lobe, autosomal dominant|ADPEAF|ADEAF|epilepsy, partial, with auditory features|epilepsy, familial temporal lobe 1|partial epilepsy with auditory features|familial temporal lobe epilepsy type 1|epilepsy, familial temporal lobe, type 1|partial epilepsy with auditory aura|ETL1|autosomal dominant partial epilepsy with auditory features|Autosomal dominant epilepsy with auditory features MESH:C537297|GARD:0002257|UMLS:C1838062|DOID:0060748|Orphanet:101046 Editor note: split out generic type https://github.com/monarch-initiative/mondo/issues/2614|https://github.com/monarch-initiative/mondo/issues/1134 owl:Class MONDO:0010765 biolink:NamedThing 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. tmpak2llvmy_mondo_relaxed.owl sex-reversing locus on X|46,XY pure gonadal dysgenesis|46, XY CGD|pure gonadal dysgenesis 46,XY|46,XY gonadal dysgenesis|46,XY SEX reversal|46 XY gonadal dysgenesis|Swyer syndrome|gonadal dysgenesis, XY female type|46, XY pure gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY complete gonadal dysgenesis|sex-reversing locus on X, formerly|46,XY CGD OMIMPS:400044|DOID:14448|Orphanet:242|UMLS:C0018054|MESH:D006061|NCIT:C120198|SCTID:95218005|GARD:0005068|ICD10:Q99.1|UMLS:C2936694 owl:Class MONDO:0001967 biolink:NamedThing gonadal dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis syndrome DOID:14447|ICD9:758.6|NCIT:C61420|GARD:0002538|SCTID:205681004|MESH:D006059 https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis owl:Class MONDO:0016221 biolink:NamedThing temporomandibular joint anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:210581 owl:Class MONDO:0002367 biolink:NamedThing kidney cancer Primary or metastatic malignant neoplasm involving the kidney. tmpak2llvmy_mondo_relaxed.owl malignant kidney neoplasm|malignant renal tumor|malignant neoplasm of kidney except pelvis|malignant kidney tumor|malignant renal neoplasm|kidney cancer|malignant tumor of kidney|malignant neoplasm of the kidney|malignant tumour of kidney|malignant tumor of the kidney|malignant neoplasm of kidney|cancer of kidney UMLS:CN881103|NCIT:C7548|ICD9:189.0|SCTID:363518003|DOID:263|MESH:D007680|ICD10:C64 owl:Class MONDO:0002285 biolink:NamedThing pupil disease A disease involving the pupil. tmpak2llvmy_mondo_relaxed.owl pupil disease or disorder|disease or disorder of pupil|pupil disease|disease of pupil|pupillary disorder|disorder of pupil UMLS:C0034124|SCTID:68633000|DOID:238 owl:Class MONDO:0100448 biolink:NamedThing RAB28 retinopathy A retinopathy caused by biallelic variants in the RAB28 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 18|cone-rod dystrophy caused by mutation in RAB28|RAB28 cone-rod dystrophy|CORD18|RAB28 retinopathy|cone-rod dystrophy 18 owl:Class GO:0071626 biolink:NamedThing mastication The process of biting and mashing food with the teeth prior to swallowing. tmpak2llvmy_mondo_relaxed.owl chewing owl:Class GO:0022600 biolink:NamedThing digestive system process A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025489 biolink:NamedThing enzootic bovine leukosis A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. tmpak2llvmy_mondo_relaxed.owl lymphosarcoma, bovine|bovine Leukoses, enzootic|bovine Lymphosarcomas|leukemia, bovine|leukosis, enzootic bovine|leukoses, bovine|lymphoma, bovine|bovine lymphoma|lymphosarcomas, bovine|bovine leukosis|bovine Lymphomas|bovine leukemia|enzootic bovine Leukoses|bovine leukemias|bovine leukosis, enzootic|leukosis, bovine|lymphomas, bovine|leukoses, enzootic bovine|leukemias, bovine|bovine lymphosarcoma|bovine Leukoses MESH:D016583|EFO:1001315 owl:Class MONDO:0002691 biolink:NamedThing liver cancer An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl cancer of liver|Ca liver - primary|primary malignant liver neoplasm|liver cancer|primary tumor of the liver|malignant liver neoplasm|malignant neoplasm of liver|primary liver cancer|malignant neoplasm of liver, primary|hepatic neoplasm|ca liver - primary|primary malignant neoplasm of liver|malignant hepato-biliary neoplasm|malignant neoplasm of liver, not specified as primary or secondary|hepatic cancer|non-resectable primary hepatic malignant neoplasm|primary cancer of liver|resectable malignant neoplasm of the liver|Resectable malignant neoplasm of liver|malignant tumor of liver ICD10:C22.9|UMLS:C0024620|UMLS:C0854795|SCTID:93870000|ICD9:155.0|NCIT:C34803|UMLS:C0345904|ICD9:155.2|DOID:3571|ICD10:C22.0|GARD:0006608 owl:Class ENVO:01000813 biolink:NamedThing astronomical body part A material part of an astronomical body. tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000024 biolink:NamedThing fiat object tmpak2llvmy_mondo_relaxed.owl FiatObjectPart fiat-object-part BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004]) the division of the brain into regions|or with divisions drawn by cognitive subjects for practical reasons, such as the division of a cake (before slicing) into (what will become) slices (and thus member parts of an object aggregate). However, this does not mean that fiat object parts are dependent for their existence on divisions or delineations effected by cognitive subjects. If, for example, it is correct to conceive geological layers of the Earth as fiat object parts of the Earth, then even though these layers were first delineated in recent times, still existed long before such delineation and what holds of these layers (for example that the oldest layers are also the lowest layers) did not begin to hold because of our acts of delineation.Treatment of material entity in BFOExamples viewed by some as problematic cases for the trichotomy of fiat object part, object, and object aggregate include: a mussel on (and attached to) a rock, a slime mold, a pizza, a cloud, a galaxy, a railway train with engine and multiple carriages, a clonal stand of quaking aspen, a bacterial community (biofilm), a broken femur. Note that, as Aristotle already clearly recognized, such problematic cases – which lie at or near the penumbra of instances defined by the categories in question – need not invalidate these categories. The existence of grey objects does not prove that there are not objects which are black and objects which are white; the existence of mules does not prove that there are not objects which are donkeys and objects which are horses. It does, however, show that the examples in question need to be addressed carefully in order to show how they can be fitted into the proposed scheme, for example by recognizing additional subdivisions [29|the Western hemisphere of the Earth|the division of the planet into hemispheres|the dorsal and ventral surfaces of the body|the FMA:regional parts of an intact human body.|the upper and lower lobes of the left lung (forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004] owl:Class ENVO:01001852 biolink:NamedThing energy transfer process A process during which one entity loses energy to another entity. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:02500000 biolink:NamedThing environmental system process A process in which includes the components of an environmental system as participants. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010248 biolink:NamedThing X-linked spondyloepimetaphyseal dysplasia X-linked form of spondyloepimetaphyseal dysplasia. tmpak2llvmy_mondo_relaxed.owl spondylo-epimetaphyseal dysplasia|spondyloepimetaphyseal dysplasia, X-linked|SEMD X-linked|SEMD, X-linked|SEMDX|spondyloepimetaphyseal dysplasia X-linked UMLS:C1848097|MESH:C564714|GARD:0004979|Orphanet:93349|OMIM:300106|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked owl:Class UBERON:0001307 biolink:NamedThing capsule of ovary A capsule that surrounds a female gonad. tmpak2llvmy_mondo_relaxed.owl ovary capsule|ovarian capsule owl:Class GO:0003354 biolink:NamedThing negative regulation of cilium movement Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpak2llvmy_mondo_relaxed.owl negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement owl:Class NCBITaxon:1980490 biolink:NamedThing Seoul orthohantavirus tmpak2llvmy_mondo_relaxed.owl Seoul hantavirus|epidemic hemorrhagic fever virus|Seoul virus GC_ID:1 NCBITaxon:11608 ncbi_taxonomy owl:Class NCBITaxon:1980442 biolink:NamedThing Orthohantavirus tmpak2llvmy_mondo_relaxed.owl Hantavirus GC_ID:1 NCBITaxon:11598 ncbi_taxonomy owl:Class GO:1901717 biolink:NamedThing positive regulation of gamma-aminobutyric acid catabolic process Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of 4-aminobutanoate catabolism|positive regulation of 4-aminobutyrate catabolism|up-regulation of gamma-aminobutyric acid breakdown|activation of 4-aminobutanoate catabolism|up regulation of gamma-aminobutyric acid breakdown|upregulation of 4-aminobutyrate catabolism|up-regulation of 4-aminobutanoate catabolism|positive regulation of gamma-aminobutyric acid catabolism|up regulation of 4-aminobutanoate catabolism|up-regulation of GABA catabolic process|positive regulation of GABA catabolism|positive regulation of 4-aminobutanoate catabolic process|upregulation of gamma-aminobutyric acid breakdown|positive regulation of gamma-aminobutyric acid breakdown|activation of 4-aminobutyrate catabolic process|upregulation of GABA catabolism|positive regulation of GABA catabolic process|up regulation of GABA catabolic process|up-regulation of gamma-aminobutyric acid catabolic process|upregulation of gamma-aminobutyric acid catabolic process|upregulation of 4-aminobutyrate catabolic process|positive regulation of gamma-aminobutyric acid degradation|up-regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid degradation|upregulation of GABA catabolic process|up regulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutanoate catabolism|positive regulation of 4-aminobutyrate catabolic process|up-regulation of 4-aminobutanoate catabolic process|up-regulation of gamma-aminobutyric acid catabolism|activation of gamma-aminobutyric acid breakdown|activation of gamma-aminobutyric acid catabolic process|up-regulation of 4-aminobutyrate catabolic process|up regulation of GABA catabolism|activation of gamma-aminobutyric acid degradation|up regulation of gamma-aminobutyric acid catabolic process|up-regulation of GABA catabolism|activation of 4-aminobutanoate catabolic process|upregulation of 4-aminobutanoate catabolic process|up regulation of gamma-aminobutyric acid catabolism|activation of gamma-aminobutyric acid catabolism|activation of 4-aminobutyrate catabolism|activation of GABA catabolism|upregulation of gamma-aminobutyric acid degradation|up regulation of 4-aminobutyrate catabolic process|upregulation of gamma-aminobutyric acid catabolism|up regulation of 4-aminobutanoate catabolic process|activation of GABA catabolic process|up-regulation of gamma-aminobutyric acid degradation owl:Class MONDO:0009710 biolink:NamedThing myotonia congenita Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. tmpak2llvmy_mondo_relaxed.owl myopathy, congenital|Batten-Turner congenital myopathy|myotonia congenita SCTID:726051002|NCIT:C84912|ICD10:G71.12|GARD:0012301|DOID:2106|MedDRA:10028655|MedDRA:10043461|ICD10:G71.1|ICD9:359.22|OMIM:255300|Orphanet:614|UMLS:C0027127 owl:Class MONDO:0019119 biolink:NamedThing muscular channelopathy A channelopathy that involves the muscle tissue. tmpak2llvmy_mondo_relaxed.owl channelopathy of muscle tissue|muscle tissue channelopathy EFO:1001899|Orphanet:71864 owl:Class MONDO:0015736 biolink:NamedThing intermediate nemaline myopathy Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. tmpak2llvmy_mondo_relaxed.owl Intermediate congenital NM|Intermediate congenital nemaline myopathy GARD:0012823|Orphanet:171433|ICD10:G71.2 owl:Class MONDO:0017303 biolink:NamedThing qualitative or quantitative defects of tropomyosin tmpak2llvmy_mondo_relaxed.owl Orphanet:284790 owl:Class UBERON:0002471 biolink:NamedThing zeugopod The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). tmpak2llvmy_mondo_relaxed.owl zeugopod limb segment|middle segment of free limb|zygopodium|zeugopodial limb segment|zygopod|middle free limb segment|middle part of limb|epipodium|middle limb segment|zeugopodium owl:Class NCBITaxon:123365 biolink:NamedThing Neoteleostei tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489388 biolink:NamedThing Euteleosteomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012168 biolink:NamedThing dyslexia, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl dyslexia, susceptibility to, 8|DYX8 OMIM:608995 owl:Class UBERON:0004336 biolink:NamedThing proximal phalanx of pedal digit 5 A proximal phalanx that is part of a pedal digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal phalanx of little toe|proximal phalanx of foot digit 5|proximal phalanx of the 5th toe|5th toe proximal phalanx|proximal phalanx of fifth digit of foot|pedal phalanx V-1|predal digit 5 proximal phalanx|proximal phalanx of pedal digit V|fifth proximal phalanx of foot|foot digit 5 proximal phalanx|proximal phalanx of fifth toe|proximal phalanx of 5th toe owl:Class UBERON:0014505 biolink:NamedThing proximal phalanx of digit 5 A proximal phalanx that is part of a autopod digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fifth proximal phalanx of autopod|5th digit proximal phalanx|proximal phalanx of fifth digit of autopod|proximal phalanx of digit V|proximal phalanx of fifth digit|digit V-1|digit V P1|proximal phalanx of 5th digit of autopod|proximal phalanx of 5th digit|5th digit of autopod proximal phalanx|proximal phalanx of little digit|fifth digit proximal phalanx|autopod digit 5 proximal phalanx owl:Class MONDO:0003655 biolink:NamedThing cerebral lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. tmpak2llvmy_mondo_relaxed.owl cerebral lymphoma|primary lymphoma, brain|primary lymphoma of the cerebrum|brain primary lymphoma|primary lymphoma of cerebrum|primary cerebral lymphoma UMLS:C0240803|NCIT:C7611|DOID:5815|SCTID:276836002 owl:Class MONDO:0016129 biolink:NamedThing eosinophilic gastroenteritis Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. tmpak2llvmy_mondo_relaxed.owl eosinophilic enteritis|EGE|eosinophilic gastroenteritis|eosinophilic gastroenterocolitis ICD10:K52.8|Orphanet:2070|NCIT:C35330|UMLS:C1262481|GARD:0009142|SCTID:359804008|DOID:4031|MedDRA:10017902|ICD9:558.41 owl:Class MONDO:0019467 biolink:NamedThing CD4+/CD56+ hematodermic neoplasm An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement. tmpak2llvmy_mondo_relaxed.owl blastic plasmacytoid dendritic cell|agranular CD4+ natural Killer cell leukemia|lymphoblastoid variant of NK-cell lymphoma|agranular CD4+ CD56+ hematodermic neoplasm/tumor|BPDCN|blastic NK-cell lymphoma|early plasmacytoid Dendritic cell leukemia/lymphoma|CD4+/CD56+ hematodermic neoplasm|blastic plasmacytoid Dendritic cell neoplasm|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|blastic natural Killer leukemia/lymphoma|monomorphic NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm GARD:0010556|UMLS:C1301363|Orphanet:86870|ONCOTREE:BPDCN|ICD9:202.80|ICD10:C86.4|ICDO:9727/3|NCIT:C7203|UMLS:CN206246|SCTID:445105005 https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell owl:Class MONDO:0005170 biolink:NamedThing myeloid neoplasm Proliferation of myeloid cells originating from a primitive stem cell. tmpak2llvmy_mondo_relaxed.owl myeloid tumor|myeloid malignancy|myeloid neoplasm DOID:0070004|UMLS:C2939461|EFO:0002427|ONCOTREE:MYELOID|NCIT:C9290|ICDO:9975/1 owl:Class GO:0043032 biolink:NamedThing positive regulation of macrophage activation Any process that stimulates, induces or increases the rate of macrophage activation. tmpak2llvmy_mondo_relaxed.owl stimulation of macrophage activation|upregulation of macrophage activation|up regulation of macrophage activation|up-regulation of macrophage activation|activation of macrophage activation|positive regulation of macrophage polarization owl:Class MONDO:0022884 biolink:NamedThing craniofacial dysostosis arthrogryposis progeroid appearence tmpak2llvmy_mondo_relaxed.owl Van Biervliet Hendrickx Van Ertbruggen syndrome GARD:0001573 https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence owl:Class MONDO:0017579 biolink:NamedThing Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients. tmpak2llvmy_mondo_relaxed.owl Baraitser-winter syndrome|trigonocephaly ptosis mental retardation|iris coloboma with ptosis hypertelorism and intellectual disability|trigonocephaly ptosis intellectual disability|iris coloboma with ptosis hypertelorism and mental retardation|BRWS|trigonocephaly ptosis coloboma|Fryns-Aftimos syndrome|cerebro-frontofacial syndrome, type 3 ICD9:759.89|DOID:0060229|SCTID:702410002|GARD:0005279|OMIMPS:243310|ICD10:Q87.0|Orphanet:2995 https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome owl:Class MONDO:0011212 biolink:NamedThing sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth tmpak2llvmy_mondo_relaxed.owl sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth OMIM:602340|MESH:C566560|UMLS:C1865645 owl:Class MONDO:0003135 biolink:NamedThing focal embolic glomerulonephritis Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. tmpak2llvmy_mondo_relaxed.owl DOID:4779|UMLS:C0238143|NCIT:C35707 owl:Class MONDO:0021845 biolink:NamedThing Aloi Tomasini Isaia syndrome A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl basal cell nevus anodontia abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization|unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization GARD:0000831|UMLS:C2931405|GARD:0000417|MESH:C537049 https://github.com/monarch-initiative/mondo/issues/3700|https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome owl:Class UBERON:0002731 biolink:NamedThing vestibulocochlear nerve root Either of the two roots that come of the vestibulocochlear nerve tmpak2llvmy_mondo_relaxed.owl fibrae nervi statoacustici|vestibulocochlear nerve tract|root of vestibulocochlear nerve|central part of vestibulocochlear nerve|vestibulocochlear nerve roots|statoacoustic nerve fibers|vestibulocochlear nerve fibers owl:Class UBERON:0006843 biolink:NamedThing root of cranial nerve The initial segment of a cranial nerve, leaving the central nervous system. tmpak2llvmy_mondo_relaxed.owl cranial nerve root|cranial neural root owl:Class CHEBI:38106 biolink:NamedThing organosulfur heterocyclic compound tmpak2llvmy_mondo_relaxed.owl heterocyclic organosulfur compounds|organosulfur heterocyclic compounds owl:Class CHEBI:33261 biolink:NamedThing organosulfur compound An organosulfur compound is a compound containing at least one carbon-sulfur bond. tmpak2llvmy_mondo_relaxed.owl organosulfur compound|organosulfur compounds owl:Class MONDO:0011700 biolink:NamedThing inflammatory bowel disease 6 An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13. tmpak2llvmy_mondo_relaxed.owl IBD6|inflammatory bowel disease type 6|inflammatory bowel disease 6 OMIM:606674|MESH:C564681|DOID:0110907|UMLS:C1847692 owl:Class UBERON:0010719 biolink:NamedThing girdle skeleton The subdivision of the skeleton of either the pectoral or pelvic girdle. tmpak2llvmy_mondo_relaxed.owl skeleton of girdle owl:Class MONDO:0030258 biolink:NamedThing pontocerebellar hypoplasia, type 14 tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 14|PCH14 OMIM:619301 owl:Class UBERON:0001466 biolink:NamedThing pedal digit A digit that is part of a pes (foot). tmpak2llvmy_mondo_relaxed.owl digiti pedis|pes digit|pedal digit (phalangeal portion) plus soft tissue|digitus pedis|hind digit|toe|digitipedis|digit of terminal segment of lower limb|hind_digit|foot digit|hindlimb digit|digit of foot owl:Class UBERON:0002544 biolink:NamedThing digit A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). tmpak2llvmy_mondo_relaxed.owl digit (phalangeal portion) plus soft tissue|acropodial unit|limb digit owl:Class UBERON:0006601 biolink:NamedThing presumptive ectoderm Presumptive structure of the blastula that will develop into ectoderm. tmpak2llvmy_mondo_relaxed.owl presumptive epidermis owl:Class MONDO:0012000 biolink:NamedThing specific phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. tmpak2llvmy_mondo_relaxed.owl simple phobia|phobia, specific|phobia, simple ICD10:F40.2|ICD9:300.29|OMIM:608251|NCIT:C35284|EFO:1001918|MESH:C562465|DOID:599|SCTID:54587008 owl:Class MONDO:0003699 biolink:NamedThing phobic disorder An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. tmpak2llvmy_mondo_relaxed.owl phobia DOID:591|ICD9:300.2|ICD10:F40.9|SCTID:386810004|ICD9:300.20|EFO:1001908|MESH:D010698|NCIT:C35420|ICD10:F40 owl:Class MONDO:0018710 biolink:NamedThing megalencephaly-severe kyphoscoliosis-overgrowth syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:457359 owl:Class MONDO:0008224 biolink:NamedThing hyperkalemic periodic paralysis Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. tmpak2llvmy_mondo_relaxed.owl Gamstorp episodic adynamy|adynamia episodica hereditaria|hyperKPP|familial hyperkalemic periodic paralysis|hyperPP|primary hyperPP|hyperkalemic PP|familial hyperPP|primary hyperkalemic periodic paralysis|normokalemic periodic paralysis, potassium-sensitive|sodium channel muscle disease|adynamia episodica hereditaria with or without myotonia|Gamstorp disease|HYPP|hyperkalemic periodic paralysis|familial hyperkalemic periodic paralysis (disorder) [ambiguous] DOID:14451|UMLS:C0238357|NCIT:C123429|SCTID:304737009|ICD10:G72.3|GARD:0000195|OMIM:170500|MESH:D020513|Orphanet:682|UMLS:CN074266 owl:Class MONDO:0000995 biolink:NamedThing familial periodic paralysis A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. tmpak2llvmy_mondo_relaxed.owl hereditary periodic paralysis (disease)|familial periodic paralyses|periodic paralysis, normokalemic|genetic periodic paralysis|periodic paralysis, familial|paralysis, normokalemic periodic|paralysis, familial periodic|normokalemic periodic paralysis|periodic paralyses, normokalemic|familial periodic paralysis|periodic paralyses, familial|normokalemic periodic paralyses|paralyses, normokalemic periodic ICD10:G72.3|GARD:0006422|MESH:D010245|Orphanet:371433|NCIT:C84709|DOID:1029|SCTID:267607008 https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis owl:Class HP:0008035 biolink:NamedThing Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). tmpak2llvmy_mondo_relaxed.owl Central retinitis pigmentosa UMLS:C4021559 HP:0008506 human_phenotype owl:Class UBERON:0001216 biolink:NamedThing jejunal vein A tributary of the superior mesenteric vein that drains the jejunum. tmpak2llvmy_mondo_relaxed.owl venae jejunales owl:Class UBERON:0002017 biolink:NamedThing portal vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. tmpak2llvmy_mondo_relaxed.owl portal venous tree organ part owl:Class GO:1904427 biolink:NamedThing positive regulation of calcium ion transmembrane transport Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl upregulation of calcium ion transmembrane transport|up regulation of calcium ion transmembrane transport|activation of calcium ion membrane transport|activation of transmembrane calcium transport|upregulation of transmembrane calcium transport|positive regulation of transmembrane calcium transport|up-regulation of calcium ion membrane transport|up-regulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|up regulation of transmembrane calcium transport|activation of calcium ion transmembrane transport|upregulation of calcium ion membrane transport|positive regulation of calcium ion membrane transport|up-regulation of transmembrane calcium transport owl:Class GO:0051928 biolink:NamedThing positive regulation of calcium ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl activation of calcium ion transport|upregulation of calcium ion transport|up-regulation of calcium ion transport|positive regulation of calcium transport|stimulation of calcium ion transport|up regulation of calcium ion transport owl:Class MONDO:0011683 biolink:NamedThing oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. tmpak2llvmy_mondo_relaxed.owl OCA4|oculocutaneous albinism type IV|albinism, oculocutaneous, type 4|oculocutaneous albinism, type 4|oculocutaneous albinism caused by mutation in SLC45A2|albinism, oculocutaneous, type IV|SLC45A2 oculocutaneous albinism UMLS:C1847836|ICD10:E70.3|OMIM:606574|DOID:0070098|MESH:C564696|Orphanet:79435|SCTID:715632003 owl:Class ENVO:01001652 biolink:NamedThing atmospheric aerosol An aerosol that is suspended in an atmosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00010505 biolink:NamedThing aerosol Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018026 biolink:NamedThing tetraploidy syndrome The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. tmpak2llvmy_mondo_relaxed.owl tetraploidy Orphanet:3305|MESH:D057891|SCTID:726363000|GARD:0005151|UMLS:C0795884|ICD10:Q92.7 https://rarediseases.info.nih.gov/diseases/5151/tetraploidy owl:Class MONDO:0019934 biolink:NamedThing polyploidy The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. tmpak2llvmy_mondo_relaxed.owl MESH:D011123|Orphanet:96321|ICD10:Q92.7|SCTID:72991005 owl:Class MONDO:0021353 biolink:NamedThing tumor of uterus A neoplasm (disease) that involves the uterus. tmpak2llvmy_mondo_relaxed.owl uterus tumor|uterine neoplasms|uterus neoplasm (disease)|tumor of the uterus|uterine neoplasm|uterus neoplasm|neoplasm of the uterus|neoplasm of uterus|uterine tumor|tumor of uterus ONCOTREE:UTERUS|NCIT:C3435|SCTID:126908007|ICD9:239.5|EFO:0003859 owl:Class MONDO:0005701 biolink:NamedThing chlamydia trachomatis infectious disease An infection that is caused by Chlamydia trachomatis. tmpak2llvmy_mondo_relaxed.owl Chlamydia trachomatis infectious disease|chlamydial disease|chlamydia trachomatis infectious disease|Chlamydia trachomatis caused disease or disorder|chlamydia|Chlamydial infection|Chlamydia trachomatis disease or disorder NCIT:C34463|SCTID:105629000|EFO:0007205|ICD9:079.88|ICD9:078.88|DOID:11263|ICD9:079.98 owl:Class MONDO:0003351 biolink:NamedThing colon leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl colonic leiomyosarcoma|leiomyosarcoma of colon|colon leiomyosarcoma|leiomyosarcoma of the colon DOID:5259|NCIT:C5494|UMLS:C1333093 owl:Class MONDO:0006994 biolink:NamedThing tarsal tunnel syndrome Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. tmpak2llvmy_mondo_relaxed.owl posterior tibial nerve neuralgia|neuropathy of the posterior tibial nerve and its branches MedDRA:10043121|NCIT:C85183|SCTID:47374004|DOID:12526|UMLS:C0039319|ICD10:G57.50|EFO:1001208|ICD10:G57.5|ICD9:355.5|MESH:D013641|GARD:0007733 https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome owl:Class MONDO:0013349 biolink:NamedThing ALG11-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type Ip|congenital disorder of glycosylation type 1p|congenital disorder of glycosylation, type Ip|carbohydrate deficient glycoprotein syndrome type Ip|CDG syndrome type Ip|CDG-Ip|CDG1P|ALG11-CDG (CDG-Ip) GARD:0012396|DOID:0080567|ICD10:E77.8|UMLS:C3150913|OMIM:613661|SCTID:733085004|Orphanet:280071 owl:Class MONDO:0004827 biolink:NamedThing esophagus squamous cell papilloma A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare. tmpak2llvmy_mondo_relaxed.owl esophageal squamous papilloma|esophagus squamous papilloma|squamous cell papilloma of the esophagus|esophagus squamous cell papilloma|squamous cell papilloma of esophagus UMLS:C1333467|DOID:959|NCIT:C5344 owl:Class MONDO:0011959 biolink:NamedThing sweet syndrome Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. tmpak2llvmy_mondo_relaxed.owl Gomm button disease|Afnd|neutrophilic dermatosis, acute febrile|acute febrile neutrophilic dermatosis|Gomm-button disease|sweet syndrome GARD:0000521|MedDRA:10000748|OMIM:608068|Orphanet:3243|ICD10:L98.2|SCTID:84625002|UMLS:C0085077|MESH:D016463|NCIT:C85177|ICD9:702.8 owl:Class HGNC:7882 biolink:NamedThing NOTCH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006228 biolink:NamedThing gastric papillary adenocarcinoma A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. tmpak2llvmy_mondo_relaxed.owl gastric papillary adenocarcinoma|stomach papillary adenocarcinoma|papillary stomach adenocarcinoma|papillary adenocarcinoma of the stomach|papillary adenocarcinoma of stomach ONCOTREE:PSTAD|NCIT:C5472|EFO:1000276|UMLS:C1333785|DOID:5593 owl:Class UBERON:0003231 biolink:NamedThing epithelium of hip An epithelium that is part of a hip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of hip region|hip epithelial tissue|hip epithelium|hip region epithelium|regio coxae epithelial tissue|hip region epithelial tissue|epithelial tissue of hip region|regio coxae epithelium|epithelial tissue of hip|epithelium of regio coxae|epithelial tissue of regio coxae owl:Class UBERON:0004789 biolink:NamedThing larynx mucous gland A mucous gland that is part of a larynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous gland of larynx owl:Class UBERON:0036225 biolink:NamedThing respiratory system gland Any gland that is part os the respiratory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006241 biolink:NamedThing hepatic granuloma A granuloma located in the liver. tmpak2llvmy_mondo_relaxed.owl ICD9:572.8|UMLS:C0745754|SCTID:714253009|EFO:1000291 Editor note: check neoplasm classification owl:Class MONDO:0019390 biolink:NamedThing Susac syndrome Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. tmpak2llvmy_mondo_relaxed.owl SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|Retinocochleocerebral vasculopathy|retinopathy-encephalopathy-deafness associated with microangiopathy|RED-M|SICRET syndrome|small infarctions of cochlear, retinal and encephalic tissue EFO:1001856|SCTID:702575003|NCIT:C116363|MedDRA:10071573|UMLS:C2717757|MESH:D055955|GARD:0007713|ICD10:I67.7|ICD9:348.39|Orphanet:838 https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome owl:Class MONDO:0004279 biolink:NamedThing glossopharyngeal motor neuropathy Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) tmpak2llvmy_mondo_relaxed.owl motor peripheral neuropathy of glossopharyngeal nerve|glossopharyngeal nerve motor peripheral neuropathy NCIT:C27212|DOID:7558|UMLS:C0751942 owl:Class MONDO:0002014 biolink:NamedThing autosomal recessive Ehlers-Danlos syndrome, vascular type The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, recessive type 4|autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, vascular type, autosomal recessive UMLS:C0268340|DOID:14759|SCTID:70610001 owl:Class MONDO:0017314 biolink:NamedThing Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. tmpak2llvmy_mondo_relaxed.owl vascular EDS|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome type IV|Ehlers-Danlos syndrome, type IV|EDS type 4|EDS IV (formerly)|Ehlers-Danlos syndrome type 4|Ehlers-Danlos syndrome type IV (formerly)|EDS IV|Ehlers Danlos syndrome, arterial type|vascular Ehlers-Danlos syndrome|EDS4 (formerly)|Ehlers Danlos syndrome, ecchymotic type|sack-Barabas syndrome|Ehlers Danlos syndrome, sack-Barabas type|vEDS|Ehlers-Danlos syndrome type 4 (formerly)|EDS type 4 (formerly) Orphanet:286|ICD10:Q79.6|SCTID:17025000|NCIT:C125699|GARD:0002082 owl:Class MONDO:0007804 biolink:NamedThing Pallister-hall syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. tmpak2llvmy_mondo_relaxed.owl Pallister-Hall syndrome|Pallister Hall syndrome|hypothalamic hamartoblastoma syndrome|ano-cerebro-digital syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|PHS GARD:0007305|MESH:D054975|DOID:9248|ICD10:D33.0|SCTID:56677004|UMLS:C0265220|OMIM:146510|NCIT:C84987|Orphanet:672|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome owl:Class GO:0002683 biolink:NamedThing negative regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. tmpak2llvmy_mondo_relaxed.owl downregulation of immune system process|down-regulation of immune system process|inhibition of immune system process|down regulation of immune system process owl:Class HP:0003076 biolink:NamedThing Glycosuria An increased concentration of glucose in the urine. tmpak2llvmy_mondo_relaxed.owl Glucosuria|Glucose in urine UMLS:C0017979|SNOMEDCT_US:45154002|MSH:D006029 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. HP:0003122 human_phenotype owl:Class HP:0011016 biolink:NamedThing Abnormality of urine glucose concentration An abnormality of the concentration of glucose in the urine. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023596 peter 2011-02-21T11:09:32Z human_phenotype owl:Class MONDO:0007116 biolink:NamedThing hereditary neurocutaneous angioma Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl hereditary neurocutaneous malformation|spinal arterial Venous malformations with cutaneous hemangiomas|angioma, hereditary neurocutaneous|angioma hereditary neurocutaneous|hemangiomatosis, disseminated|hereditary neurocutaneous angioma GARD:0000676|Orphanet:1062|ICD10:D18.0|OMIM:106070 owl:Class MONDO:0015263 biolink:NamedThing Brugada syndrome A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. tmpak2llvmy_mondo_relaxed.owl dream disease|sudden unexplained nocturnal death syndrome|Bangungut|Pokkuri death syndrome|Brugada type idiopathic ventricular fibrillation|Brugada syndrome|sudden unexpected nocturnal death syndrome|idiopathic ventricular fibrillation, Brugada type|right bundle branch block, ST segment elevation, and sudden death syndrome|SUNDS MedDRA:10059027|UMLS:C1142166|NCIT:C142891|ICD9:746.89|SCTID:418818005|ICD10:I49.8|MESH:D053840|GARD:0001030|OMIMPS:601144|Orphanet:130|DOID:0050451 owl:Class MONDO:0042965 biolink:NamedThing Machado-Joseph disease type 5 A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl azorean disease, type V ICD9:334.3 owl:Class MONDO:0007182 biolink:NamedThing Machado-Joseph disease Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. tmpak2llvmy_mondo_relaxed.owl Azorean disease of the nervous system|Azorean neurologic disease|Nigrospinodentatal Degeneration|spinocerebellar atrophy 3|Spinopontine atrophy|Machado-Joseph disease|Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|spinocerebellar atrophy type 3|MJD|spinocerebellar ataxia 3|Machado disease|SCA3|autosomal dominant striatonigral degeneration|spinocerebellar ataxia type 3|Azorean disease NCIT:C84830|ICD9:336.8|GARD:0006801|OMIM:109150|MESH:D017827|UMLS:C0024408|Orphanet:98757|ICD10:G11.8|SCTID:91952008|DOID:1440 owl:Class MONDO:0001707 biolink:NamedThing cardiac sarcoidosis Sarcoidosis affecting the tissues of the heart. tmpak2llvmy_mondo_relaxed.owl sarcoidosis of heart|heart sarcoidosis SCTID:75403004|UMLS:C0392077|DOID:13405|NCIT:C35589 owl:Class MONDO:0016345 biolink:NamedThing non-familial restrictive cardiomyopathy tmpak2llvmy_mondo_relaxed.owl EFO:1001473|Orphanet:217720|UMLS:CN226908 owl:Class HP:0000252 biolink:NamedThing Microcephaly Head circumference below 2 standard deviations below the mean for age and gender. tmpak2llvmy_mondo_relaxed.owl Decreased size of cranium|Abnormally small head|Small head circumference|Decreased circumference of cranium|Small skull|small cranium|Abnormally small cranium|small calvarium|Abnormally small skull|Reduced head circumference|Decreased size of skull|Decreased size of head|Small head Fyler:4310|UMLS:C4551563|SNOMEDCT_US:271611007 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition HP:0005497|HP:0001366|HP:0005489|HP:0005485 human_phenotype owl:Class HP:0040195 biolink:NamedThing Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. tmpak2llvmy_mondo_relaxed.owl Decreased head circumference SNOMEDCT_US:271611007|UMLS:C0424688 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. human_phenotype owl:Class UBERON:0015178 biolink:NamedThing somite border A region of somite adjacent to presomitic mesoderm. tmpak2llvmy_mondo_relaxed.owl segmental border|intersomitic fissure|inter-somited border|intersomitic junction|intersomitic boundary|somite boundary owl:Class MONDO:0007273 biolink:NamedThing paragangliomas 4 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. tmpak2llvmy_mondo_relaxed.owl paragangliomas type 4|PGL4|paragangliomas, hereditary extraadrenal|paragangliomas 4|pheochromocytoma, extraadrenal and cervical paraganglioma|paraganglioma, familial malignant|paraganglioma caused by mutation in SDHB|carotid body tumors and multiple extraadrenal Pheochromocytomas|pheochromocytoma, familial extraadrenal|SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|SDHB paraganglioma|pheochromocytoma, extraadrenal, and cervical paraganglioma UMLS:C1861848|OMIM:115310|GARD:0010546 https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4 owl:Class GO:1901859 biolink:NamedThing negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. tmpak2llvmy_mondo_relaxed.owl downregulation of mitochondrial DNA metabolic process|down regulation of mitochondrial DNA metabolism|down-regulation of mtDNA metabolic process|negative regulation of mitochondrial DNA metabolism|negative regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolic process|downregulation of mtDNA metabolism|inhibition of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|down-regulation of mitochondrial DNA metabolism|inhibition of mitochondrial DNA metabolism|downregulation of mtDNA metabolic process|down regulation of mtDNA metabolic process|inhibition of mtDNA metabolic process|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolism|down regulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism owl:Class GO:1901858 biolink:NamedThing regulation of mitochondrial DNA metabolic process Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolism|regulation of mtDNA metabolic process owl:Class MONDO:0013652 biolink:NamedThing narcolepsy 7 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. tmpak2llvmy_mondo_relaxed.owl narcolepsy type 7|NRCLP7|narcolepsy 7|MOG narcolepsy|narcolepsy caused by mutation in MOG UMLS:C3280266|OMIM:614250 owl:Class HGNC:6617 biolink:NamedThing LIPA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048545 biolink:NamedThing response to steroid hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpak2llvmy_mondo_relaxed.owl response to steroid hormone stimulus owl:Class HGNC:5042 biolink:NamedThing HNRNPH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011076 biolink:NamedThing myofibrillar myopathy 1 Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. tmpak2llvmy_mondo_relaxed.owl IBM1|CMD1F and LGMD1D, formerly|desmin-related myopathy|inclusion body myopathy 1, autosomal dominant|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desmin-related myofibrillar myopathy|CMD1F and LGMD1D|arrhythmogenic right ventricular dysplasia, familial, 7|myopathy, myofibrillar, type 1|inclusion body myopathy 1, autosomal dominant, formerly|DES myofibrillar myopathy (disease)|MFM1|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|myofibrillar myopathy 1|myofibrillar myopathy type 1|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|desminopathy|myopathy, myofibrillar, 1|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|myofibrillar myopathy (disease) caused by mutation in DES|arrhythmogenic right ventricular cardiomyopathy 7|desminopathy, primary|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|myopathy, myofibrillar, desmin-related Orphanet:98909|DOID:0080092|ICD10:G71.8|UMLS:C1832370|OMIM:601419 owl:Class NCBITaxon:1723728 biolink:NamedThing unclassified Polyomaviridae tmpak2llvmy_mondo_relaxed.owl unassigned Polyomaviridae GC_ID:1 NCBITaxon:1891753 ncbi_taxonomy owl:Class NCBITaxon:151341 biolink:NamedThing Polyomaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:20041 biolink:NamedThing ZNF408 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0062014 biolink:NamedThing negative regulation of small molecule metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of small molecule metabolism owl:Class MONDO:0008839 biolink:NamedThing ataxia-microcephaly-cataract syndrome tmpak2llvmy_mondo_relaxed.owl ataxia-microcephaly-cataract syndrome|AMC syndrome OMIM:208870|MESH:C563086|UMLS:C0796056 owl:Class MONDO:0012622 biolink:NamedThing leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome|LBSL|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement - high lactate MESH:C567009|GARD:0012652|SCTID:703537008|OMIM:611105|ICD10:E75.2|Orphanet:137898 owl:Class GO:0022408 biolink:NamedThing negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. tmpak2llvmy_mondo_relaxed.owl down-regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down regulation of cell-cell adhesion|downregulation of cell-cell adhesion owl:Class UBERON:0002380 biolink:NamedThing trapezius muscle A large superficial muscle that extends longitudinally from the occipital bone to the lower thoracic vertebrae and laterally to the spine of the scapula (shoulder blade). Its functions are to move the scapulae and support the arm. The trapezius has three functional regions: the superior region (descending part), which supports the weight of the arm; the intermediate region (transverse part), which retracts the scapulae; and the inferior region (ascending part), which medially rotates and depresses the scapulae. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl trapezius|musculus trapezius|spinotrapezius owl:Class MONDO:0012930 biolink:NamedThing autosomal recessive severe congenital neutropenia due to G6PC3 deficiency tmpak2llvmy_mondo_relaxed.owl autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|severe congenital neutropenia type 4|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|neutropenia, severe congenital, 4, autosomal recessive|Dursun syndrome|SCN4|pulmonary arterial hypertension, leukopenia, and atrial septal defect ICD10:D70|UMLS:C2675526|Orphanet:331176|OMIM:612541 owl:Class MONDO:0019833 biolink:NamedThing pituitary hormone deficiency from tumoral origin tmpak2llvmy_mondo_relaxed.owl Orphanet:95503|UMLS:CN206780 Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma owl:Class MONDO:0013125 biolink:NamedThing CLAPO syndrome CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). tmpak2llvmy_mondo_relaxed.owl Clapo|capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Lopez-Gutierrez syndrome ICD10:Q87.3|OMIM:613089|SCTID:717765001|Orphanet:168984|MESH:C567763|UMLS:C2751313 owl:Class MONDO:0019716 biolink:NamedThing overgrowth syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. tmpak2llvmy_mondo_relaxed.owl NCIT:C94828|UMLS:C2986703|Orphanet:93460|UMLS:CN206621|ICD10:Q87.3 owl:Class GO:0048523 biolink:NamedThing negative regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl down regulation of cellular process|down-regulation of cellular process|negative regulation of cellular physiological process|downregulation of cellular process|inhibition of cellular process owl:Class MONDO:0004415 biolink:NamedThing lipid-cell variant infiltrating bladder urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, Lipid-cell variant DOID:7967|UMLS:C1512738|NCIT:C39828 owl:Class MONDO:0006557 biolink:NamedThing hemangioma of subcutaneous tissue A hemangioma arising from the subcutaneous soft tissues. tmpak2llvmy_mondo_relaxed.owl hemangioma of subcutaneous tissue|subcutaneous hemangioma|angioma of the subcutaneous tissue|subcutaneous angioma|subcutaneous haemangioma|angioma of subcutaneous tissue|subcutaneous tissue angioma|superficial fascia hemangioma|subcutaneous tissue hemangioma|hemangioma of the subcutaneous tissue|hemangioma of superficial fascia EFO:1000707|SCTID:93473009|UMLS:C0685200|NCIT:C8540|DOID:13081 owl:Class UBERON:0005289 biolink:NamedThing tela choroidea of telencephalic ventricle Tela chorioidea that lines the telencephalic ventricle. tmpak2llvmy_mondo_relaxed.owl tela choroidea (ventriculi lateralis)|tela chorioidea telencephalic ventricle|tela chorioidea of lateral ventricle|tela choroidea of lateral ventricle|tela chorioidea of telencephalic ventricle|tela choroidea telencephalic ventricle owl:Class UBERON:0001893 biolink:NamedThing telencephalon Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl endbrain|cerebrum|supratentorial region owl:Class MONDO:0003720 biolink:NamedThing kidney fibrosarcoma A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl renal fibrosarcoma|kidney fibrosarcoma (disease)|fibrosarcoma of kidney|kidney fibrosarcoma|fibrosarcoma of the kidney UMLS:C0238208|DOID:5982|NCIT:C7726 owl:Class MONDO:0002930 biolink:NamedThing kidney sarcoma A sarcoma involving a kidney. tmpak2llvmy_mondo_relaxed.owl sarcoma of kidney|sarcoma of the kidney|kidney sarcoma|renal sarcoma SCTID:254918001|ICD9:189.0|DOID:4242|UMLS:C0346251|NCIT:C4525 owl:Class HGNC:9081 biolink:NamedThing PLOD1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001310 biolink:NamedThing umbilical artery The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl a. umbilicalis owl:Class MONDO:0007398 biolink:NamedThing craniorhiny tmpak2llvmy_mondo_relaxed.owl craniorhiny ICD10:Q30.8|Orphanet:157832|UMLS:C1852501|MESH:C565144|OMIM:123050 owl:Class MONDO:0000358 biolink:NamedThing orofacial cleft tmpak2llvmy_mondo_relaxed.owl OMIMPS:119530|UMLS:CN221583|DOID:0050567|SCTID:449790007 Editor notes: most subtypes are isolated owl:Class MONDO:0014929 biolink:NamedThing retinitis pigmentosa 76 Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. tmpak2llvmy_mondo_relaxed.owl RP76|retinitis pigmentosa 76|retinitis pigmentosa 76; RP76|retinitis pigmentosa type 76|retinitis pigmentosa caused by mutation in POMGNT1|POMGNT1 retinitis pigmentosa OMIM:617123|UMLS:C4310704 owl:Class MONDO:0011889 biolink:NamedThing Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2I|Charcot Marie Tooth disease type 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|CMT 2I|Charcot-Marie-Tooth disease, axonal, type 2I|Charcot-Marie-Tooth neuropathy, type 2I|CMT2I ICD10:G60.0|GARD:0009197|SCTID:717013009|Orphanet:99942|UMLS:CN207466|OMIM:607677|DOID:0110158 https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i owl:Class MONDO:0009637 biolink:NamedThing inborn mitochondrial myopathy Myopathy caused by mitochondrial abnormalities. tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy|mitochondrial cytopathy MESH:D017240|Orphanet:206966|DOID:699|GARD:0011956|NCIT:C101328|MedDRA:10027710|ICD10:G71.3|UMLS:C0162670 owl:Class MONDO:0002238 biolink:NamedThing ascending colon cancer A malignant neoplasm involving the ascending colon. tmpak2llvmy_mondo_relaxed.owl cancer of ascending colon|malignant tumor of ascending colon|malignant neoplasm of right colon|malignant ascending colon neoplasm|Ca ascending colon|malignant neoplasm of ascending colon|ascending colon cancer SCTID:363412000|UMLS:C0153439|DOID:218|ICD10:C18.2|ICD9:153.6 owl:Class MONDO:0021063 biolink:NamedThing malignant colon neoplasm A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl cancer of colon|colon tumor, malignant|malignant colonic tumor|malignant tumor of colon|malignant tumor of the colon|malignant colonic neoplasm|malignant neoplasm of the colon|malignant neoplasm of colon|colon neoplasm, malignant|malignant colon neoplasm|malignant colon tumor|colon cancer DOID:219|ICD10:C18|ICD9:153.8|ICD10:C18.9|ICD9:153|ICD9:153.9|SCTID:363406005|NCIT:C9242|UMLS:C0007102 owl:Class UBERON:0015142 biolink:NamedThing falciform fat A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. tmpak2llvmy_mondo_relaxed.owl falciform ligament fat pad|falciform fat depot owl:Class UBERON:0003916 biolink:NamedThing fat pad A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. tmpak2llvmy_mondo_relaxed.owl fat body owl:Class MONDO:0012009 biolink:NamedThing coronary heart disease, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl coronary heart disease, susceptibility to, type 2|Chds2|coronary heart disease, susceptibility to, 2 UMLS:C1842260|OMIM:608316 owl:Class MONDO:0015317 biolink:NamedThing laryngotracheal angioma tmpak2llvmy_mondo_relaxed.owl Orphanet:137935|UMLS:C3839574|ICD10:D18.0|SCTID:703199001|ICD9:228.09 owl:Class MONDO:0018810 biolink:NamedThing lethal hydranencephaly-diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. tmpak2llvmy_mondo_relaxed.owl Orphanet:480528|UMLS:CN776878 owl:Class NCBITaxon:8043 biolink:NamedThing Gadiformes tmpak2llvmy_mondo_relaxed.owl cods and others GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489843 biolink:NamedThing Gadariae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012051 biolink:NamedThing periodontitis, aggressive, 2 tmpak2llvmy_mondo_relaxed.owl periodontitis, aggressive, 2|periodontitis, aggressive, type 2 OMIM:608526|MESH:C566946|UMLS:C1969478 owl:Class MONDO:0005593 biolink:NamedThing chronic periodontitis A chronic inflammatory process that affects the tissues that surround and support the teeth. tmpak2llvmy_mondo_relaxed.owl periodontitis, chronic MESH:D055113|NCIT:C35326|ICD9:523.4|ICD9:523.40|SCTID:5689008|EFO:0006343|ICD10:K05.3 owl:Class MONDO:0016601 biolink:NamedThing adult-onset citrullinemia type I Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. tmpak2llvmy_mondo_relaxed.owl adult-onset citrullinemia type 1|late-onset citrullinemia type I|late-onset citrullinemia type 1 ICD10:E72.2|Orphanet:247573|UMLS:CN201794 owl:Class MONDO:0008988 biolink:NamedThing citrullinemia type I Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). tmpak2llvmy_mondo_relaxed.owl citrullinemia 1|CTLN1|citrullinemia type 1|argininosuccinate synthase deficiency|citrullinemia, type 1|argininosuccinate synthetase deficiency|citrullinemia, classic|argininosuccinic acid synthetase deficiency|classic citrullinemia|citrullinemia type I|ASS deficiency|CTNL1|Citrullinuria|argininosuccinic acid synthase deficiency SCTID:398680004|GARD:0006114|MedDRA:10058298|OMIM:215700|DOID:0070340|NCIT:C150601|ICD10:E72.2|Orphanet:247525 owl:Class MONDO:0009411 biolink:NamedThing autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. tmpak2llvmy_mondo_relaxed.owl autoimmune polyendocrinopathy type 1|Whitaker syndrom|ham syndrome|Whitaker syndrome|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|PGA 1|polyglandular deficiency syndrome, Persian-Jewish type|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|APECED syndrome|autoimmune polyglandular syndrome type 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|MEDAC syndrome|APS 1|polyglandular autoimmune syndrome type 1|autoimmune polyendocrinopathy caused by mutation in aire|aire autoimmune polyendocrinopathy|autoimmune polyendocrinopathy caused by mutation in AIRE|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|autoimmune polyendocrine syndrome type 1|AIRE autoimmune polyendocrinopathy|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|APS type 1|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyendocrinopathy syndrome type 1|polyglandular autoimmune syndrome, type 1|APS1|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|autoimmune polyglandular syndrome I|multiple endocrine deficiency-Addison disease-candidiasis syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune polyglandular syndrome, type 1 OMIM:240300|UMLS:C0085859|ICD10:E31.0|SCTID:11244009|DOID:0050167|GARD:0008466|NCIT:C129727|GARD:0005558|Orphanet:3453|ICD9:258.8 owl:Class ENVO:09200014 biolink:NamedThing temperature of water The temperature of some water. tmpak2llvmy_mondo_relaxed.owl water temperature owl:Class PATO:0000146 biolink:NamedThing temperature A physical quality of the thermal energy of a system. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903793 biolink:NamedThing positive regulation of anion transport Any process that activates or increases the frequency, rate or extent of anion transport. tmpak2llvmy_mondo_relaxed.owl up-regulation of anion transport|upregulation of anion transport|activation of anion transport|up regulation of anion transport owl:Class MONDO:0011884 biolink:NamedThing hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. tmpak2llvmy_mondo_relaxed.owl hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|Hopp syndrome|HOPP syndrome OMIM:607658|ICD10:Q82.8|SCTID:763658004|Orphanet:307936|MESH:C564357|UMLS:C1843285 owl:Class MONDO:0017672 biolink:NamedThing focal palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl focal palmoplantar hyperkeratosis|focal PPK|focal keratosis palmoplantaris ICD10:Q82.8|Orphanet:307837 owl:Class MONDO:0001211 biolink:NamedThing total internal ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl ICD9:367.52|DOID:11177|UMLS:C0152197|SCTID:86266009 owl:Class MONDO:0000926 biolink:NamedThing eye accommodation disease Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. tmpak2llvmy_mondo_relaxed.owl disorder of accommodation ICD9:367.5|ICD10:H52.5|SCTID:54552008|DOID:10034|UMLS:C0152198 owl:Class MONDO:0017370 biolink:NamedThing autoinflammatory syndrome with skin involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN203043|Orphanet:290842 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0011478 biolink:NamedThing growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia tmpak2llvmy_mondo_relaxed.owl Roca syndrome|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia OMIM:604690|UMLS:C1858182|MESH:C565755 owl:Class CL:0001068 biolink:NamedThing ILC1 A group 1 innate lymphoid cell that is non-cytotoxic. tmpak2llvmy_mondo_relaxed.owl 2017-01-30 20:54:12+00:00 cell owl:Class CL:0001067 biolink:NamedThing group 1 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. tmpak2llvmy_mondo_relaxed.owl 2017-01-30 20:42:44+00:00 cell owl:Class MONDO:0000929 biolink:NamedThing balloon cell malignant melanoma A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. tmpak2llvmy_mondo_relaxed.owl balloon cell cutaneous (skin) melanoma|balloon cell melanoma|balloon cell malignant skin melanoma|balloon cell skin melanoma|balloon cell malignant melanoma of the skin|balloon cell malignant melanoma of skin UMLS:C0334426|DOID:10044|NCIT:C4227|SCTID:403922007|ICDO:8722/3 owl:Class MONDO:0005012 biolink:NamedThing cutaneous melanoma A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. tmpak2llvmy_mondo_relaxed.owl malignant ear melanoma|cutaneous melanoma (disease)|melanoma of skin|malignant melanoma of ear and/or external auricular canal|melanoma (disease) of zone of skin|malignant melanoma (of skin), stage unspecified|malignant upper limb melanoma|skin, melanoma|cutaneous (skin) melanoma|melanoma of the skin|malignant cutaneous melanoma|malignant lip melanoma|malignant melanoma of skin of upper limb|malignant melanoma of skin of lower limb|malignant melanoma of skin|malignant scalp melanoma|malignant melanoma of skin of trunk except scrotum|malignant neck melanoma|malignant lower limb melanoma|malignant melanoma of skin stage unspecified|zone of skin melanoma|zone of skin melanoma (disease)|skin melanoma|cutaneous melanoma|malignant trunk melanoma cutaneous melanoma (disease) ICD10:C43.0|ICD9:172.0|EFO:0000389|DOID:8923|UMLS:C0151779|ICD9:172.3|ICD9:172|ICD9:172.4|NCIT:C3510|ICD9:172.2|ICD9:172.9|UMLS:C0153536|ICD10:C43|HP:0012056|ONCOTREE:SKCM|ICD10:C43.4|ICD9:172.5|ICD9:172.8|ICD10:C43.9|SCTID:93655004|ICD10:C43.2|UMLS:C0153535 owl:Class MONDO:0008029 biolink:NamedThing Bethlem myopathy A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. tmpak2llvmy_mondo_relaxed.owl BTHLM1|Bethlem myopathy type 1|Bethlem myopathy 1|benign autosomal dominant myopathy|benign congenital muscular dystrophy MESH:C535436|ICD10:G71.0|GARD:0000873|UMLS:C1834674|SCTID:718572004|NCIT:C126688|Orphanet:610|DOID:0050663|OMIMPS:158810 Editor note: consider separating type 1 form owl:Class MONDO:0019950 biolink:NamedThing congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. tmpak2llvmy_mondo_relaxed.owl congenital MD|MDC|CMD ICD10:G71.2|GARD:0009138|SCTID:240059009|Orphanet:97242|DOID:0050557|ICD9:359.0|EFO:0006819|UMLS:C0699743 owl:Class MONDO:0013224 biolink:NamedThing rhabdoid tumor predisposition syndrome 2 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. tmpak2llvmy_mondo_relaxed.owl RTPS2|familial rhabdoid tumor caused by mutation in SMARCA4|rhabdoid tumor predisposition syndrome 2|rhabdoid tumor predisposition syndrome type 2|SMARCA4 familial rhabdoid tumor UMLS:C2750074|MESH:C567643|OMIM:613325 owl:Class MONDO:0016473 biolink:NamedThing familial rhabdoid tumor A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. tmpak2llvmy_mondo_relaxed.owl rhabdoid tumor predisposition syndrome|familial rhabdoid tumor|RTPS|hereditary rhabdoid tumor|familial posterior fossa brain tumor syndrome of infancy|rhabdoid predisposition syndrome Orphanet:231108|NCIT:C93268|ICD10:C49.9|OMIMPS:609322|UMLS:C2985524|UMLS:CN201468 owl:Class MONDO:0015169 biolink:NamedThing chronic diarrhea due to glucoamylase deficiency This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. tmpak2llvmy_mondo_relaxed.owl maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency|maltase glucoamylase deficiency Orphanet:103907|UMLS:C4275068|SCTID:716277000|ICD10:E74.3 owl:Class MONDO:0003668 biolink:NamedThing extragonadal seminoma tmpak2llvmy_mondo_relaxed.owl extragonadal primary seminoma|primary extragonadal seminoma|extragonadal seminoma NCIT:C7327|DOID:5838|UMLS:C1333502 owl:Class MONDO:0015367 biolink:NamedThing Charlie M syndrome Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. tmpak2llvmy_mondo_relaxed.owl GARD:0001261|ICD10:Q87.0|Orphanet:1406|SCTID:733034007|UMLS:C4518555|UMLS:CN199458 https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome owl:Class CL:1001592 biolink:NamedThing gall bladder glandular cell Glandular cell of gall bladder epithelium. tmpak2llvmy_mondo_relaxed.owl gallbladder glandular cell|gallbladder glandular cells|gall bladder glandular cells CALOHA:TS-1278 owl:Class MONDO:0014609 biolink:NamedThing cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl CHOPS|CHOPS syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia ICD10:Q87.8|EFO:0009031|GARD:0012845|Orphanet:444077|OMIM:616368|UMLS:C4085597|SCTID:764455002 owl:Class CHEBI:17310 biolink:NamedThing pyridoxal A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpak2llvmy_mondo_relaxed.owl Pyridoxal|pyridoxal|pyridoxaldehyde|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde owl:Class CHEBI:38182 biolink:NamedThing monohydroxypyridine A hydroxypyridine carrying a single hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl monohydroxypyridines owl:Class UBERON:0001697 biolink:NamedThing orbit of skull Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball. tmpak2llvmy_mondo_relaxed.owl eye socket|bony orbit|orbit of skull|orbit owl:Class MONDO:0010200 biolink:NamedThing Wilson disease Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. tmpak2llvmy_mondo_relaxed.owl Wnd|cerebral pseudosclerosis|Westphal-Strumpell syndrome|Wilson disease|hepatolenticular Degeneration|WD|Westphal pseudosclerosis|Wilson's disease|hepatolenticular degeneration NCIT:C84756|UMLS:C0019202|DOID:893|OMIM:277900|ICD10:E83.01|MedDRA:10019819|Orphanet:905|ICD10:E83.0|SCTID:88518009|GARD:0007893|MESH:D006527 https://rarediseases.info.nih.gov/diseases/7893/wilson-disease owl:Class HGNC:10031 biolink:NamedThing RMRP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008987 biolink:NamedThing renal parenchyma The functional tissue of the kidney, consisting of the nephrons. tmpak2llvmy_mondo_relaxed.owl kidney parenchyma|parenchyma of kidney owl:Class MONDO:0004744 biolink:NamedThing borderline glaucoma tmpak2llvmy_mondo_relaxed.owl Preglaucoma DOID:9283|ICD10:H40.00|UMLS:C1533674|SCTID:193531003|ICD9:365.00 owl:Class GO:0022402 biolink:NamedThing cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009987 biolink:NamedThing cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpak2llvmy_mondo_relaxed.owl cellular physiological process|single-organism cellular process|cell physiology|cell growth and/or maintenance owl:Class CHEBI:26833 biolink:NamedThing sulfur atom tmpak2llvmy_mondo_relaxed.owl sulfur|azufre|theion|S|Elemental sulfur|16S|Schwefel|soufre|sulphur owl:Class CHEBI:25585 biolink:NamedThing nonmetal atom tmpak2llvmy_mondo_relaxed.owl Nichtmetall|Nichtmetalle|non-metal|no metales|non-metaux|nonmetal|no metal|nonmetals owl:Class MONDO:0021461 biolink:NamedThing benign neoplasm of hypopharynx A benign neoplasm that involves the hypopharynx. tmpak2llvmy_mondo_relaxed.owl benign tumor of the hypopharynx|hypopharyngeal neoplasm, benign|benign hypopharyngeal neoplasm|hypopharynx benign neoplasm|benign tumor of hypopharynx|benign hypopharyngeal tumor|benign neoplasm of the hypopharynx ICD9:210.8|SCTID:92139000|UMLS:C0153939|ICD10:D10.7|NCIT:C3596 owl:Class MONDO:0006727 biolink:NamedThing diastolic heart failure Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. tmpak2llvmy_mondo_relaxed.owl ICD10:I50.30|ICD9:428.3|ICD9:428.30|UMLS:C1135196|MedDRA:10069211|MESH:D054144|SCTID:418304008|DOID:9775|EFO:1000899|ICD10:I50.3 owl:Class UBERON:0005685 biolink:NamedThing midgut dorsal mesentery A dorsal mesentery that is part of a midgut. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002296 biolink:NamedThing dorsal mesentery The mesentery that originates from the dorsal side of the peritoneal cavity[ZFA]. tmpak2llvmy_mondo_relaxed.owl mesenterium dorsale commune|dorsal mesogastrium owl:Class MONDO:0033640 biolink:NamedThing vitamin D-dependent rickets, type 3 tmpak2llvmy_mondo_relaxed.owl VDDR3 OMIM:619073 owl:Class UBERON:0001728 biolink:NamedThing nasopharynx the section of the pharynx that lies above the soft palate tmpak2llvmy_mondo_relaxed.owl pars nasalis pharyngis|epipharynx|rhinopharynx|Nasenrachenraum|nasal part of pharynx owl:Class UBERON:0000072 biolink:NamedThing proximo-distal subdivision of respiratory tract An section of a respiratory tract. tmpak2llvmy_mondo_relaxed.owl subdivision of respiratory tract|respiratory tract owl:Class MONDO:0019740 biolink:NamedThing acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpak2llvmy_mondo_relaxed.owl acquired TTP|TTP|acquired ADAMTS13 deficiency|Moschowitz syndrome|idiopathic thrombotic thrombocytopenic purpura|purpura, thrombotic thrombocytopenic|acquired thrombotic thrombocytopenic purpura|autoimmune thrombotic thrombocytopenic purpura UMLS:C2584777|ICD10:M31.3|MESH:C536901|UMLS:C2584778|SCTID:438476003|Orphanet:93585|NCIT:C131653|GARD:0004607 owl:Class MONDO:0001198 biolink:NamedThing acquired thrombocytopenia An instance of thrombocytopenia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl secondary thrombocytopenia|acquired thrombocytopenia DOID:11126|ICD10:D69.5|ICD9:287.4|SCTID:74576004|UMLS:C0154301 owl:Class GO:0099550 biolink:NamedThing trans-synaptic signaling, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099537 biolink:NamedThing trans-synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003327 biolink:NamedThing mesenchyme of forearm Mesenchyme that is part of a developing lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009276 biolink:NamedThing Bernard-Soulier syndrome Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. tmpak2llvmy_mondo_relaxed.owl macrothrombocytopenia, familial Bernard-Soulier type|Von Willebrand Factor receptor deficiency|bleeding disorder, Platelet-type, 1|Bernard-Soulier syndrome, type C|Bernard-Soulier syndrome, type A1|Bernard Soulier syndrome|thrombopathy, Bernard-Soulier|BSS|giant platelet disease|glycoprotein Ib, Platelet, deficiency of|Hemorrhagiparous thrombocytic dystrophy|Platelet glycoprotein 1b, deficiency of|deficiency of platelet glycoprotein 1b|Bernard-Soulier syndrome|Platelet glycoprotein Ib deficiency|hemorrhagic dystrophic thrombocytopenia|Bernard - Soulier thrombopathy|giant platelet syndrome|Bernard-Soulier syndrome, type B MedDRA:10057473|DOID:2217|UMLS:C0005129|Orphanet:274|ICD10:D69.1|MESH:D001606|SCTID:234478007|GARD:0002470|OMIM:231200|NCIT:C84595 owl:Class MONDO:0034099 biolink:NamedThing SYNGAP1-related developmental and epileptic encephalopathy A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). tmpak2llvmy_mondo_relaxed.owl Orphanet:544254 owl:Class HGNC:31673 biolink:NamedThing GRXCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007156 biolink:NamedThing arthritis, sacroiliac tmpak2llvmy_mondo_relaxed.owl arthritis, sacroiliac MESH:C563037|OMIM:108100|UMLS:C0748473 owl:Class HGNC:18194 biolink:NamedThing ZNF365 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000330 biolink:NamedThing endemic typhus A bacterial infection caused by Rickettsia typhi. tmpak2llvmy_mondo_relaxed.owl rat-flea typhus|urban typhus of Malaya|endemic typhus fever|shop typhus|murine typhus|urban typhus|Rickettsia felis spotted fever|toulon typhus|endemic flea-borne typhus|fleaborne typhus|cat flea rickettsiosis NCIT:C84688|UMLS:CN206047|ICD10:A75.2|Orphanet:83315|MedDRA:10028282|MESH:D014437|DOID:0050481 owl:Class UBERON:0001242 biolink:NamedThing intestinal mucosa Mucosal layer that lines the intestine. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of intestine|mucosa of organ of bowel|mucous membrane of intestine|organ mucosa of bowel|bowel mucous membrane|intestine mucosa|tunica mucosa intestini|intestine organ mucosa|organ mucosa of intestine|mucous membrane of bowel|intestine mucosa of organ|mucosa of bowel|mucosa of intestine|bowel mucosa|bowel mucosa of organ|bowel organ mucosa|intestine mucous membrane owl:Class UBERON:0004786 biolink:NamedThing gastrointestinal system mucosa A mucosa that is part of a gastrointestinal system. tmpak2llvmy_mondo_relaxed.owl mucosa of gut|gut mucuous membrane|gut mucosa|digestive tract mucosa owl:Class CL:1000482 biolink:NamedThing myocardial endocrine cell of interventricular septum A myocardial endocrine cell that is part of the interventricular septum. tmpak2llvmy_mondo_relaxed.owl FMA:83390 cell owl:Class CL:2000022 biolink:NamedThing cardiac septum cell Any native cell that is part of a cardiac septum. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-24T23:17:07Z cell owl:Class CHEBI:140310 biolink:NamedThing phenyl acetates An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol. tmpak2llvmy_mondo_relaxed.owl phenyl acetate derivatives|phenyl acetate derivative|a phenyl acetate owl:Class MONDO:0008789 biolink:NamedThing anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane tmpak2llvmy_mondo_relaxed.owl anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane UMLS:C1859786|MESH:C565953|OMIM:206300 owl:Class MONDO:0000105 biolink:NamedThing anemia, nonspherocytic hemolytic tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007454 biolink:NamedThing type 1 diabetes mellitus 2 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 2|type 1 diabetes mellitus caused by mutation in INS|diabetes mellitus, insulin-dependent, type 2|INS type 1 diabetes mellitus|IDDM2|insulin-dependent diabetes mellitus 2 MESH:C565100|OMIM:125852|ICD10:E10|UMLS:C1852092|DOID:0110741 owl:Class UBERON:0010221 biolink:NamedThing laryngeal associated mesenchyme tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060778 biolink:NamedThing adult Fanconi syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. tmpak2llvmy_mondo_relaxed.owl adult Fanconi syndrome|adult Fanconi's syndrome NCIT:C4377 owl:Class MONDO:0001083 biolink:NamedThing Fanconi renotubular syndrome A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. tmpak2llvmy_mondo_relaxed.owl De toni-Fanconi syndrome|infantile nephropathic cystinosis|Lignac-Fanconi syndrome|deToni Fanconi syndrome|toni-debre-Fanconi syndrome|adult Fanconi syndrome|Fanconi-de toni syndrome|Fanconi's syndrome|De toni-debre-Fanconi syndrome|congenital Fanconi syndrome|Fanconi syndrome|Fanconi-de-toni syndrome SCTID:40488004|NCIT:C3034|DOID:1062|MESH:D005198|GARD:0009120|UMLS:C0015624 adult Fanconi Anemia https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome owl:Class MONDO:0021250 biolink:NamedThing tonsil neoplasm A neoplasm (disease) that involves the tonsil. tmpak2llvmy_mondo_relaxed.owl tonsillar tumor|tumor of tonsil|tumor of the tonsil|tonsil tumor|tonsillar neoplasm|neoplasm of the tonsil|neoplasm of tonsil|tonsil neoplasm (disease)|tonsillar neoplasms NCIT:C3417|SCTID:127227003 owl:Class MONDO:0016824 biolink:NamedThing infantile myofibromatosis A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpak2llvmy_mondo_relaxed.owl IMS|multicentric myofibromatosis|infantile myofibromatosis|myofibromatosis|infantile hemangiopericytoma UMLS:C0206648|ICDO:8824/1|NCIT:C3742|DOID:0080109|Orphanet:2591|GARD:0002998|OMIMPS:228550|ICD10:D48.1|MESH:D018224|ONCOTREE:IMS https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis owl:Class HGNC:11103 biolink:NamedThing SMARCB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018253 biolink:NamedThing intellectual disability-facial dysmorphism-hand anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:370010|ICD10:Q87.0|UMLS:CN204829 owl:Class MONDO:0018091 biolink:NamedThing microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Viljoen Kallis Voges syndrome|Viljoen-Kallis-Voges syndrome|microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis UMLS:C2931177|MESH:C536349|ICD10:Q87.8|GARD:0005490|SCTID:719378009|Orphanet:3433 https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome owl:Class NCBITaxon:5970 biolink:NamedThing Exophiala dermatitidis tmpak2llvmy_mondo_relaxed.owl Wangiella dermatitidis|Hormiscium dermatitidis GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5583 biolink:NamedThing Exophiala tmpak2llvmy_mondo_relaxed.owl Nadsoniella|Wangiella GC_ID:1 NCBITaxon:52865|NCBITaxon:108021 ncbi_taxonomy owl:Class CL:0019018 biolink:NamedThing blood vessel smooth muscle cell A smooth muscle cell that is part of any blood vessel. tmpak2llvmy_mondo_relaxed.owl smooth muscle cell of blood vessel 2020-07-21 12:42:48+00:00 owl:Class ENVO:02000106 biolink:NamedThing asbestos dust tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:02000101 biolink:NamedThing fibrous dust Dust which is composed of fibrous material. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003596 biolink:NamedThing ankle connective tissue A portion of connective tissue that is part of an ankle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tarsal region connective tissue|connective tissue of ankle owl:Class UBERON:0003595 biolink:NamedThing pes connective tissue A portion of connective tissue that is part of a foot [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foot connective tissue|connective tissue of terminal segment of free lower limb|textus connectivus of pes|connective tissue of foot owl:Class MONDO:0012774 biolink:NamedThing chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. tmpak2llvmy_mondo_relaxed.owl microdeletion 15q13.3 syndrome|monosomy 15q13.3|Del(15)(q13.3)|chromosome 15q13.3 deletion syndrome|chromosome 15q13.3 microdeletion syndrome|15q13.3 microdeletion syndrome|15q13.3 microdeletion ICD10:Q93.5|OMIM:612001|Orphanet:199318|GARD:0010296|MESH:C567439|SCTID:699254009|DOID:0060394 owl:Class MONDO:0010428 biolink:NamedThing chromosome Xp11.23-p11.22 duplication syndrome A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. tmpak2llvmy_mondo_relaxed.owl trisomy Xp11.22-p11.23|microduplication Xp11.22-p11.23 syndrome|chromosome Xp11.23-p11.22 duplication syndrome DOID:0060461|MESH:C567585|SCTID:721881008|Orphanet:217377|OMIM:300801|ICD10:Q99.8|GARD:0012766 owl:Class MONDO:0017009 biolink:NamedThing partial duplication of the short arm of chromosome X tmpak2llvmy_mondo_relaxed.owl partial trisomy of the short arm of chromosome X|partial duplication of the short arm of chromosome type X|partial duplication of chromosome Xp|partial trisomy of chromosome Xp GARD:0012421|ICD10:Q99.8|Orphanet:263775 owl:Class MONDO:0008884 biolink:NamedThing oculoosteocutaneous syndrome A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM|anodontia-hypotrichosis syndrome|oculoosteocutaneous syndrome|brachymetapody anodontia hypotrichosis albinoidism UMLS:C1859385|OMIM:211370|MESH:C565893|GARD:0000992|ICD10:Q87.5|SCTID:722061006|Orphanet:2713 https://github.com/monarch-initiative/mondo/issues/3687|https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism owl:Class MONDO:0100437 biolink:NamedThing RPGR retinopathy A retinopathy caused by a variant in the X-linked gene, RPGR. tmpak2llvmy_mondo_relaxed.owl choroidoretinal degeneration with retinal reflex in heterozygous women|X-linked cone dystrophy 1|CORDX1|retinal ciliopathy due to mutation in the RPGR gene|retinitis pigmentosa type 3|RP3|RPGR retinitis pigmentosa|cone-rod dystrophy, X-linked, type 1|COD1|retinitis pigmentosa 15|X-linked cone-rod dystrophy 1|cone-rod dystrophy X-linked 1|cone-rod degeneration, X-linked|cone dystrophy 1, X-linked|retinitis pigmentosa 3|cone dystrophy X-linked 1|X-linked cone-rod dystrophy type 1|macular degeneration, X-linked atrophic|cone-rod dystrophy, X-linked, 1|retinitis pigmentosa caused by mutation in RPGR http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class GO:0043010 biolink:NamedThing camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001654 biolink:NamedThing eye development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009247 biolink:NamedThing frontofacionasal dysplasia Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). tmpak2llvmy_mondo_relaxed.owl fronto-facio-nasal dysostosis|fronto-facio-nasal dyplasia|Ffnd|frontofacionasal dysplasia|Gollop syndrome|Frontofacionasal dysostosis MESH:C538063|Orphanet:1791|ICD10:Q75.8|SCTID:716022002|UMLS:C2931720|GARD:0002390|OMIM:229400 https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia owl:Class MONDO:0020156 biolink:NamedThing syndromic ankyloblepharon tmpak2llvmy_mondo_relaxed.owl Orphanet:98565|UMLS:CN227801 owl:Class MONDO:0000916 biolink:NamedThing intestinal infectious disease An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. tmpak2llvmy_mondo_relaxed.owl bacterial enteritis DOID:100|ICD10:A00-A09|SCTID:266071000|ICD9:008.8|UMLS:C0178238|UMLS:C0152516|ICD9:001-009.99|ICD10:A00.A09 owl:Class MONDO:0018066 biolink:NamedThing trisomy X Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). tmpak2llvmy_mondo_relaxed.owl 47,XXX|triple X syndrome|Triplo X syndrome|XXX syndrome|trisomy X|Triplo-X syndrome|triple-X female|47 XXX syndrome|trisomy type X|47,XXX syndrome|triple-X chromosome syndrome ICD10:Q97.0|Orphanet:3375|SCTID:35111009|NCIT:C129718|UMLS:C0221033|GARD:0005672|MESH:C535318 https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome owl:Class MONDO:0001602 biolink:NamedThing labia minora carcinoma A carcinoma that arises from the labia minora. tmpak2llvmy_mondo_relaxed.owl carcinoma of the labia minora|labia minora cancer|labium minora carcinoma|labia minora carcinoma|carcinoma of labia minora|carcinoma of labium minora DOID:1293|UMLS:C1334357|NCIT:C9364 owl:Class MONDO:0016381 biolink:NamedThing hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. tmpak2llvmy_mondo_relaxed.owl hypertrichosis universalis|congenital hypertrichosis lanuginosa|hypertrichosis lanuginosa congenita|hypertrichosis lanuginosa universalis OMIM:145700|MESH:C538389|GARD:0002865|ICD10:Q84.2|SCTID:201163007|Orphanet:2222 owl:Class MONDO:0003384 biolink:NamedThing uterine ligament clear cell adenocarcinoma A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated. tmpak2llvmy_mondo_relaxed.owl uterine ligament clear cell adenocarcinoma NCIT:C40139|UMLS:C1519867|DOID:5302 owl:Class MONDO:0005004 biolink:NamedThing clear cell adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. tmpak2llvmy_mondo_relaxed.owl Wolffian duct neoplasm|clear cell adenocarcinoma (morphologic abnormality)|mesonephroma, malignant (morphologic abnormality)|adenocarcinoma, clear cell, malignant|clear cell adenocarcinoma|mesonephroid clear cell carcinoma|mesonephroid clear cell adenocarcinoma|water-clear cell adenocarcinoma|mesonephroma NOS (morphologic abnormality)|clear cell adenocarcinoma NOS (morphologic abnormality)|malignant Mesonephroma|water-clear cell adenocarcinoma (morphologic abnormality)|water-clear cell carcinoma|mesonephroma, malignant|clear cell carcinoma MESH:D018262|EFO:0000348|DOID:4468|ICDO:8310/3|NCIT:C3766|UMLS:C0206681 owl:Class MONDO:0020266 biolink:NamedThing genodermatosis with ocular features tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98696 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo.Term to consider: skin disease' MONDO_0005093 owl:Class MONDO:0016972 biolink:NamedThing partial duplication of the long arm of chromosome 22 tmpak2llvmy_mondo_relaxed.owl partial duplication of the long arm of chromosome type 22|partial trisomy of chromosome 22q|partial duplication of chromosome 22q|partial trisomy of the long arm of chromosome 22 Orphanet:263004 owl:Class UBERON:0016514 biolink:NamedThing cavity of left ventricle luminal space of the left ventricle of the heart. tmpak2llvmy_mondo_relaxed.owl left ventricular cavity owl:Class MONDO:0001345 biolink:NamedThing antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. tmpak2llvmy_mondo_relaxed.owl DOID:11718|ICD9:305.8 owl:Class HGNC:6444 biolink:NamedThing KRT6B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006668 biolink:NamedThing carotid canal On the interior surface of the temporal bone, behind the rough surface of the apex, is the large circular aperture of the carotid canal, which ascends at first vertically, and then, making a bend, runs horizontally forward and medialward. It transmits into the cranium, the internal carotid artery, and the carotid plexus of nerves. Sympathetics to the head also pass through the carotid canal. They have several motor functions: raise the eyelid (superior tarsal muscle), dilate pupil, innervate sweat glands of face and scalp and constricts blood vessels in head[WP]. tmpak2llvmy_mondo_relaxed.owl canalis caroticus owl:Class UBERON:0006876 biolink:NamedThing vasculature of organ A vasculature that is part of a organ. tmpak2llvmy_mondo_relaxed.owl set of blood vessels of organ|organ vasculature owl:Class MONDO:0009717 biolink:NamedThing Schwartz-Jampel syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). tmpak2llvmy_mondo_relaxed.owl burton skeletal dysplasia|Schwartz Jampel Aberfeld syndrome|osteochondromuscular dystrophy|Aberfeld syndrome|Osteochondromuscular dystrophy|Catel-Hempel syndrome|myotonic chondrodystrophy|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|Schwartz Jampel syndrome|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|SJS|burton syndrome|Schwartz-Jampel syndrome|Catel-Hempel type dysostosis enchondralis metaepiphysaria|Schwartz-Jampel-Aberfeld syndrome ICD9:759.89|ICD10:G71.1|NCIT:C35008|SCTID:29145002|ICD10:Q78.8|Orphanet:800|GARD:0000250|UMLS:C0036391 owl:Class MONDO:0016106 biolink:NamedThing progressive muscular dystrophy tmpak2llvmy_mondo_relaxed.owl progressive muscular dystrophy Orphanet:206644|GARD:0012583|UMLS:CN241791|ICD10:G71.0 owl:Class HGNC:9071 biolink:NamedThing PLG tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016012 biolink:NamedThing sarcoglycan complex A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. tmpak2llvmy_mondo_relaxed.owl sarcoglycan-sarcospan complex owl:Class MONDO:0005029 biolink:NamedThing essential thrombocythemia A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl essential thrombocytosis|essential thrombocytemia|essential thrombocythemia|ET|primary thrombocythemia|hemorrhagic thrombocythemia|primary thrombocytosis|essential thrombocythaemia|idiopathic thrombocythemia ONCOTREE:ET|ICDO:9962/3|GARD:0006594|EFO:0000479|UMLS:C0040028|MedDRA:10015493|NCIT:C3407|SCTID:109994006|ICD10:D47.3|Orphanet:3318|ICD9:238.71|DOID:2224|MESH:D013920 https://github.com/monarch-initiative/mondo/issues/230|https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia owl:Class MONDO:0002249 biolink:NamedThing thrombocytosis disease A disease characterized by higher than normal platelet counts in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl Platelet count increased|Thrombocythaemia|elevated Platelet count|thrombocytosis ICD9:289.9|NCIT:C35530|SCTID:6631009|MESH:D013922|DOID:2228|UMLS:C0836924 owl:Class MONDO:0021123 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpak2llvmy_mondo_relaxed.owl Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone|Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor UMLS:C1333481|NCIT:C35871 owl:Class MONDO:0021038 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. tmpak2llvmy_mondo_relaxed.owl Ewing sarcoma/peripheral PNET|Ewing's family of tumors|EFTs|tumors of the Ewing's family|Ewing family of tumors|Ewing's family of tumours|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|tumors of Ewing's family|Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing sarcoma family of tumors NCIT:C27291|UMLS:C3536893 owl:Class ENVO:01000309 biolink:NamedThing cold environment An environment which has a lower temperature than some local or global average. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000254 biolink:NamedThing environmental system A system which has the disposition to environ one or more material entities. tmpak2llvmy_mondo_relaxed.owl environment owl:Class GO:0045641 biolink:NamedThing negative regulation of basophil differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation. tmpak2llvmy_mondo_relaxed.owl down-regulation of basophil differentiation|downregulation of basophil differentiation|inhibition of basophil differentiation|down regulation of basophil differentiation owl:Class GO:0045640 biolink:NamedThing regulation of basophil differentiation Any process that modulates the frequency, rate or extent of basophil differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:452 biolink:NamedThing AMBN tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048639 biolink:NamedThing positive regulation of developmental growth Any process that activates, maintains or increases the rate of developmental growth. tmpak2llvmy_mondo_relaxed.owl upregulation of developmental growth|activation of developmental growth|up-regulation of developmental growth|stimulation of developmental growth|up regulation of developmental growth owl:Class MONDO:0007041 biolink:NamedThing apert syndrome Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. tmpak2llvmy_mondo_relaxed.owl apert-Crouzon disease|acrocephalosyndactyly, type 2|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 1|ACS1|Vogt Cephalodactyly|type I Acrocephalosyndactyly|syndactylic oxycephaly|acrocephalosyndactyly type 1|ACS 1|ACS 2|apert syndrome|acrocephalosyndactyly type I UMLS:C0001193|Orphanet:87|NCIT:C99099|MESH:D000168|GARD:0005833|MedDRA:10002943|ICD10:Q87.0|OMIM:101200|SCTID:205258009 owl:Class MONDO:0007079 biolink:NamedThing alcohol dependence Physical and psychological dependence on alcohol. tmpak2llvmy_mondo_relaxed.owl alcoholism|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcohol dependence|alcohol dependence, protection against OMIM:103780|SCTID:66590003|ICD9:305.0|EFO:0003829|DOID:0050741|ICD9:303.90|KEGG:05034|NCIT:C93040 owl:Class MONDO:0004938 biolink:NamedThing substance dependence The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence. tmpak2llvmy_mondo_relaxed.owl dependence ICD9:304.60|SCTID:2403008|DOID:9973|NCIT:C35458 owl:Class CL:0010008 biolink:NamedThing cardiac endothelial cell tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002494 biolink:NamedThing cardiocyte A cell located in the heart, including both muscle and non muscle cells. tmpak2llvmy_mondo_relaxed.owl heart cell FMA:83808|BTO:0001539|CALOHA:TS-0115|FMA:84791 From Onard of the FMA: Cardiac muscle cell or cardiac myocyte is a striated muscle cell. Cardiocyte on the other hand is any cell in the heart which includes cells other than muscle cells (e.g. endothelial cell of endocardium). Unless there is a consensus among anatomists that cardiocytes refer only to muscle cells, we will treat them as a general class of cells in the heart. tmeehan 2010-12-07T09:37:22Z cell owl:Class UBERON:0001302 biolink:NamedThing right uterine tube A fallopian tube that is part of a right side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right oviduct|right fallopian tube owl:Class UBERON:0003889 biolink:NamedThing fallopian tube Initial section of the oviduct through which the ova pass from the ovary to the uterus tmpak2llvmy_mondo_relaxed.owl paramesonephric duct of female|uterine tube (sensu Mammalia)|female paramesonephric duct|tuba uterina|mammalian oviduct|fallopian tubes|salpinges|salpinx owl:Class NCBITaxon:147541 biolink:NamedThing Dothideomycetes tmpak2llvmy_mondo_relaxed.owl bitunicate ascomycetes|Loculoascomycetes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:715962 biolink:NamedThing dothideomyceta tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0030099 biolink:NamedThing myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:37104 biolink:NamedThing Trichomonadida tmpak2llvmy_mondo_relaxed.owl trichomonads PMID:20093080|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5719 biolink:NamedThing Parabasalia tmpak2llvmy_mondo_relaxed.owl parabasalids|parabasalians|Parabasalidea GC_ID:1|PMID:20093080 ncbi_taxonomy owl:Class MONDO:0042913 biolink:NamedThing Schrander-stumpel-Theunissen-Hulsmans syndrome tmpak2llvmy_mondo_relaxed.owl vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|Schrander-Stumpel Theunissen Hulsmans syndrome|vitiligo, psychomotor retardation, cleft palate and facial dysmorphism UMLS:C2931275|GARD:0000256|MESH:C536639 owl:Class CHEBI:36357 biolink:NamedThing polyatomic entity Any molecular entity consisting of more than one atom. tmpak2llvmy_mondo_relaxed.owl polyatomic entities owl:Class UBERON:0002062 biolink:NamedThing endocardial cushion The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. tmpak2llvmy_mondo_relaxed.owl atrioventricular cushion|AV cushion|endocardial cushion tissue|endocardial cushions|atrioventricular canal cushion|cardiac cushion owl:Class UBERON:0005256 biolink:NamedThing trunk mesenchyme Mesenchyme that is part of a developing trunk. tmpak2llvmy_mondo_relaxed.owl trunk and cervical mesenchyme owl:Class MONDO:0045035 biolink:NamedThing opportunistic infectious A characteristic of an infectious disease in which the disease affects an immunologically compromised host. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015766 biolink:NamedThing epithelium of duct of salivary gland A epithelium that is part of a duct of salivary gland. tmpak2llvmy_mondo_relaxed.owl salivary duct epithelium|epithelium of salivary duct|salivary ductal epithelium owl:Class MONDO:0019374 biolink:NamedThing CAMOS syndrome CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia autosomal recessive 5|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities|SCAR5|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|CAMOS|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome UMLS:C1847114|ICD10:G11.1|UMLS:C4511633|SCTID:726031001|GARD:0009977|Orphanet:83472 owl:Class UBERON:0002424 biolink:NamedThing oral epithelium An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues tmpak2llvmy_mondo_relaxed.owl epithelium of oral mucosa|epithelium of mucosa of mouth owl:Class MONDO:0009767 biolink:NamedThing oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. tmpak2llvmy_mondo_relaxed.owl Cross syndrome|oculocerebral hypopigmentation syndrome|hypopigmentation oculocerebral syndrome Cross type|Kramer syndrome|oculocerebral syndrome with hypopigmentation GARD:0000105|Orphanet:2719|OMIM:257800|SCTID:17827007|ICD10:E70.3|ICD9:759.89 owl:Class MONDO:0017305 biolink:NamedThing syndromic oculocutaneous albinism A oculocutaneous albinism that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic oculocutaneous albinism|syndrome associated with oculocutaneous albinism UMLS:CN227111|ICD10:E70.3|Orphanet:284811 owl:Class UBERON:0035037 biolink:NamedThing jaw epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901318 biolink:NamedThing negative regulation of flagellated sperm motility Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility. tmpak2llvmy_mondo_relaxed.owl negative regulation of sperm movement|inhibition of sperm motility|down regulation of sperm movement|down-regulation of sperm movement|inhibition of sperm movement|downregulation of sperm motility|negative regulation of sperm motility|down regulation of sperm motility|downregulation of sperm movement|down-regulation of sperm motility owl:Class GO:1902020 biolink:NamedThing negative regulation of cilium-dependent cell motility Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. tmpak2llvmy_mondo_relaxed.owl negative regulation of ciliary cell motility|down-regulation of ciliary cell motility|inhibition of ciliary cell motility|downregulation of ciliary cell motility|down regulation of ciliary cell motility|negative regulation of cilium cell motility owl:Class MONDO:0008153 biolink:NamedThing progressive osseous heteroplasia A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. tmpak2llvmy_mondo_relaxed.owl osseous heteroplasia, progressive|familial ectopic ossification|ectopic ossification familial type|ectopic ossification, familial|osteoma cutis|poh GARD:0000109|DOID:0111535|OMIM:166350|SCTID:719271000|MedDRA:10048902|ICD10:M61.5|MESH:C562735|Orphanet:2762|UMLS:C0334041 https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia owl:Class GO:0010823 biolink:NamedThing negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpak2llvmy_mondo_relaxed.owl negative regulation of mitochondrion organisation owl:Class MONDO:0054550 biolink:NamedThing avascular necrosis of femoral head, primary, 1 tmpak2llvmy_mondo_relaxed.owl femoral head, aseptic necrosis of|Femoral head, avascular necrosis of|ischemic necrosis of femoral head|osteonecrosis of femoral head|avascular necrosis of femoral head, primary, 1|ANFH1 OMIM:608805 owl:Class MONDO:0012126 biolink:NamedThing familial avascular necrosis of femoral head Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. tmpak2llvmy_mondo_relaxed.owl familial osteonecrosis of the femoral head|osteonecrosis of femoral head|femoral head, aseptic Necrosis of|familial avascular necrosis of the femoral head|aseptic Necrosis of head of femur|ANFH1|aseptic Necrosis of femoral head|femoral head, avascular Necrosis of|avascular Necrosis of femoral head, primary, 1|avascular NECROSIS of femoral head, primary|ischemic Necrosis of femoral head|primary avascular necrosis of the femoral head|ANFH|avascular NECROSIS of femoral head, primary, 1 UMLS:CN206226|GARD:0010914|ICD10:M87.8|NCIT:C35480|Orphanet:86820|MESH:D005271|OMIMPS:608805|SCTID:715657008 https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head owl:Class GO:0070093 biolink:NamedThing negative regulation of glucagon secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. tmpak2llvmy_mondo_relaxed.owl downregulation of glucagon secretion|down regulation of glucagon secretion|down-regulation of glucagon secretion|inhibition of glucagon secretion owl:Class GO:0070092 biolink:NamedThing regulation of glucagon secretion Any process that modulates the frequency, rate or extent of the regulated release of glucagon. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098632 biolink:NamedThing cell-cell adhesion mediator activity The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. tmpak2llvmy_mondo_relaxed.owl cell-cell adhesion molecule|protein binding involved in cell-cell adhesion owl:Class GO:0005515 biolink:NamedThing protein binding Binding to a protein. tmpak2llvmy_mondo_relaxed.owl glycoprotein binding|protein amino acid binding owl:Class MONDO:0009575 biolink:NamedThing thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. tmpak2llvmy_mondo_relaxed.owl megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|thiamine-responsive anemia syndrome|thiamine-responsive myelodysplasia|thiamine-responsive megaloblastic anemia syndrome|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|thiamine metabolism dysfunction syndrome 1|TRMA|Rogers syndrome|thiamine responsive megaloblastic anemia syndrome|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine-responsive Anemia syndrome|THMD1 ICD10:Q21.0|Orphanet:49827|SCTID:237617006|GARD:9210|DOID:0090117|GARD:0009210|MESH:C536510|OMIM:249270 https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome owl:Class MONDO:0000152 biolink:NamedThing thiamine-responsive dysfunction syndrome tmpak2llvmy_mondo_relaxed.owl thiamine-responsive dysfunction syndrome OMIMPS:249270 owl:Class GO:0034655 biolink:NamedThing nucleobase-containing compound catabolic process The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid degradation|nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process owl:Class GO:0044270 biolink:NamedThing cellular nitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl nitrogen compound breakdown|nitrogen compound catabolism|nitrogen compound degradation owl:Class ECTO:9000376 biolink:NamedThing exposure to formic acid An exposure to formic acid. tmpak2llvmy_mondo_relaxed.owl exposure to formic acid owl:Class UBERON:0004550 biolink:NamedThing gastroesophageal sphincter the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach tmpak2llvmy_mondo_relaxed.owl esophagogastric junction|gastro-esophageal junction|LES|gastro-oesophageal junction|gastroesophageal sphincter|cardiac sphincter|esophageal sphincter|gastro-esophageal sphincter|esophageal sphincter%2c lower|gastroesophageal junction|constrictor cardiae|inferior esophageal sphincter|esophageal-cardiac junction|gastroesophageal sphincter muscle|lower esophageal sphincter owl:Class UBERON:0004590 biolink:NamedThing sphincter muscle A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. tmpak2llvmy_mondo_relaxed.owl circular muscle|sphincter owl:Class MONDO:0012159 biolink:NamedThing lung cancer susceptibility 1 tmpak2llvmy_mondo_relaxed.owl lung cancer susceptibility 1|LNCR1 UMLS:C1837089|OMIM:608935 owl:Class MONDO:0008903 biolink:NamedThing lung cancer A malignant neoplasm involving the lung. tmpak2llvmy_mondo_relaxed.owl malignant lung neoplasm|Nonsmall cell lung cancer|alveolar cell carcinoma|lung neoplasm|malignant neoplasm of the lung|lung cancer|cancer of lung|malignant tumor of the lung|malignant lung tumor|malignant tumor of lung|malignant neoplasm of lung|lung cancer, protection against ICD9:162.5|ICD9:162.4|ICD10:C34.3|NCIT:C7377|ICD10:C34.1|ICD9:162.8|DOID:1324|ICD10:C34.2|ICD9:162.3|OMIM:211980|ICD9:162.9|SCTID:363358000 owl:Class GO:0009063 biolink:NamedThing cellular amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. tmpak2llvmy_mondo_relaxed.owl cellular amino acid breakdown|amino acid catabolic process|cellular amino acid catabolism|cellular amino acid degradation owl:Class GO:1901565 biolink:NamedThing organonitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. tmpak2llvmy_mondo_relaxed.owl organonitrogen compound catabolism|organonitrogen compound breakdown|organonitrogen compound degradation owl:Class ENVO:01001784 biolink:NamedThing compound astronomical body part A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011014 biolink:NamedThing Abnormal glucose homeostasis Abnormality of glucose homeostasis. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023598 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. peter 2011-02-21T10:37:21Z human_phenotype owl:Class MONDO:0006019 biolink:NamedThing yaws An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. tmpak2llvmy_mondo_relaxed.owl Treponema pertenue infection|frambesia tropica|frambesia|polypapilloma tropicum|Treponema pallidum subsp. pertenue disease or disorder|Bouba|Treponema pallidum subsp. pertenue caused disease or disorder|frambosie|Treponema pallidum subsp. pertenue infectious disease|endemic treponematoses|thymosis ICD10:A66.9|NCIT:C41353|ICD9:102.9|ICD9:102|ICD9:102.7|DOID:10371|MESH:D015001|EFO:0007548|GARD:0007913|ICD10:A66|SCTID:70647001|UMLS:C0043388 https://rarediseases.info.nih.gov/diseases/7913/yaws owl:Class UBERON:0006834 biolink:NamedThing uterus or analog A subdivision of a the reproductive tract in a female organism that is the site of embryo development. tmpak2llvmy_mondo_relaxed.owl uterus owl:Class MONDO:0005324 biolink:NamedThing seasonal allergic rhinitis Allergic rhinitis caused by outdoor allergens. tmpak2llvmy_mondo_relaxed.owl seasonal allergic rhinitis|hay fever SCTID:367498001|MESH:D006255|NCIT:C92188|EFO:0003956 owl:Class MONDO:0011786 biolink:NamedThing allergic rhinitis Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. tmpak2llvmy_mondo_relaxed.owl Perenial allergic rhinitis|pollenosis|non-seasonal allergic rhinitis|seasonal allergic rhinitis|allergic form of rhinitis|allergic rhinitis|atopic rhinitis|perennial allergic rhinitis|Alrh ICD9:477.9|HP:0003193|SCTID:61582004|OMIM:607154|ICD9:477|NCIT:C79532|DOID:4481|EFO:0005854|ICD9:477.8|UMLS:C2607914 owl:Class MONDO:0043735 biolink:NamedThing osteoradionecrosis Necrosis of bone following radiation injury. tmpak2llvmy_mondo_relaxed.owl Osteoradionecroses|osteoradionecrosis|radiation necrosis of bone NCIT:C63707|SCTID:109333005|MESH:D010025 owl:Class MONDO:0005380 biolink:NamedThing osteonecrosis A none disease characterized by death of bone tissue due to a lack of blood supply. tmpak2llvmy_mondo_relaxed.owl ischemic bone disease|osteonecrosis|bone necrosis|aseptic necrosis NCIT:C35476|NCIT:C34880|ICD10:M87.0|ICD10:M87.3|ICD9:733.42|Orphanet:399158|SCTID:240196003|ICD9:733.4|ICD10:M87.8|ICD10:M87.9|DOID:10159|GARD:0012057|ICD9:733.44|ICD9:733.41|DOID:0080008|ICD10:M87.2|ICD10:M87|ICD10:M87.1|ICD9:732.3|ICD9:733.43|ICD9:733.49|MESH:D010020|EFO:0004259 owl:Class HGNC:10910 biolink:NamedThing SLC12A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0025323 biolink:NamedThing Abnormal arterial physiology An anomaly of arterial function. tmpak2llvmy_mondo_relaxed.owl 2017-02-03 12:08:38+00:00 HPO:probinson human_phenotype owl:Class HP:0030163 biolink:NamedThing Abnormal vascular physiology Abnormality of vascular function. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022603 human_phenotype owl:Class UBERON:0003704 biolink:NamedThing intrahepatic bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. tmpak2llvmy_mondo_relaxed.owl intrahepatic biliary system|bile duct intrahepatic part owl:Class UBERON:0002394 biolink:NamedThing bile duct Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. tmpak2llvmy_mondo_relaxed.owl hepatic duct|gall duct|biliary duct|bile tube owl:Class MONDO:0018902 biolink:NamedThing hepatocellular adenoma A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. tmpak2llvmy_mondo_relaxed.owl HCA|adenoma, hepatocellular, benign|LIAD|hepatocellular adenoma|adenoma of the liver cells|liver cell adenoma|adenoma of liver cells MESH:D018248|MedDRA:10019827|Orphanet:54272|ICD10:D13.4|NCIT:C3758|UMLS:C0206669|DOID:0050868|ICDO:8170/0|ONCOTREE:LIAD|EFO:0000762 owl:Class MONDO:0016800 biolink:NamedThing mitochondrial membrane transport disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:254827|UMLS:CN227001 owl:Class MONDO:0001330 biolink:NamedThing presbyopia The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. tmpak2llvmy_mondo_relaxed.owl DOID:11638|MESH:D011305|UMLS:C0033075|SCTID:41256004|ICD10:H52.4|ICD9:367.4 owl:Class MONDO:0004892 biolink:NamedThing refractive error A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. tmpak2llvmy_mondo_relaxed.owl DOID:9835|SCTID:39021009|ICD10:H52.7|MESH:D012030 owl:Class UBERON:0002369 biolink:NamedThing adrenal gland Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. tmpak2llvmy_mondo_relaxed.owl glandula suprarenalis|adrenal capsule|adrenal medulla cell|epinephric gland|interrenal gland|atrabiliary capsule|epinephros|suprarenal capsule|suprarenal gland|adrenal|glandula adrenalis owl:Class HGNC:6556 biolink:NamedThing LETM1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003834 biolink:NamedThing thoracic segment blood vessel A blood vessel that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of thorax|upper body blood vessel|thorax blood vessel owl:Class MONDO:0000651 biolink:NamedThing thoracic disease A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. tmpak2llvmy_mondo_relaxed.owl disorder of thoracic segment of trunk|disease or disorder of thoracic segment of trunk|thoracic segment of trunk disease or disorder|disorder of thorax|thoracic disorder|thoracic segment of trunk disease|thoracic disease|disease of thoracic segment of trunk MESH:D013896|DOID:0060118|UMLS:C0039978|NCIT:C35742|SCTID:609622007|SCTID:118946009|UMLS:C3661979 owl:Class MONDO:0032614 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2|EV2 OMIM:618231 owl:Class MONDO:0009176 biolink:NamedThing epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. tmpak2llvmy_mondo_relaxed.owl Lewandowsky-Lutz dysplasia|Lewandowsky-Lutz syndrome|ever|Lutz-Lewandowsky epidermodysplasia verruciformis|EV|epidermodysplasia verruciformis OMIM:226400|ICD10:B07|SCTID:19138001|Orphanet:302|OMIMPS:226400|MedDRA:10052339|MESH:D004819|NCIT:C126877|UMLS:C0014522|ICD9:078.19|ICD9:757.8|DOID:13777|GARD:0006357 https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis owl:Class MONDO:0044306 biolink:NamedThing neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). tmpak2llvmy_mondo_relaxed.owl severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|NECFM UMLS:C4479333|Orphanet:500545|OMIM:617393 owl:Class GO:0050976 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of touch The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of touch, sensory transduction of mechanical stimulus|perception of touch, detection of mechanical stimulus|perception of touch, sensory detection of mechanical stimulus|tactition, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of touch|sensory detection of mechanical stimulus during perception of touch owl:Class GO:0050982 biolink:NamedThing detection of mechanical stimulus The series of events by which a mechanical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33563 biolink:NamedThing glycolipid Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. tmpak2llvmy_mondo_relaxed.owl Glycolipid|glycolipids owl:Class CHEBI:35740 biolink:NamedThing liposaccharide tmpak2llvmy_mondo_relaxed.owl liposaccharides owl:Class GO:0001701 biolink:NamedThing in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043009 biolink:NamedThing chordate embryonic development The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006244 biolink:NamedThing HER2 positive breast carcinoma A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). tmpak2llvmy_mondo_relaxed.owl HER2 positive breast carcinoma|HER2 Overexpressing breast carcinoma|HER2 Positive breast cancer|HER2 Overexpressing subtype of breast carcinoma|Her2-receptor positive breast cancer|ERBB2 Overexpressing subtype of breast carcinoma EFO:1000294|SCTID:427685000|DOID:0060079|NCIT:C53556|UMLS:C1960398 owl:Class UBERON:0003336 biolink:NamedThing serosa of duodenum A serous membrane that is part of a duodenum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl doudenal serosa|duodenum serosa|duodenum serous membrane|visceral peritoneum of duodenum|duodenal serosa|serous membrane of duodenum owl:Class UBERON:0000042 biolink:NamedThing serous membrane multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. tmpak2llvmy_mondo_relaxed.owl tunica serosa|wall of serous sac|serosa owl:Class UBERON:2001626 biolink:NamedThing premaxillary tooth Tooth that is attached to the premaxilla. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003267 biolink:NamedThing tooth of upper jaw A calcareous tooth that is part of the upper jaw region. In mammals, the upper jaw teeth are attached to the maxilla. tmpak2llvmy_mondo_relaxed.owl maxillary tooth|upper jaw tooth owl:Class MONDO:0012534 biolink:NamedThing combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 4|combined oxidative phosphorylation deficiency 4|TUFM combined oxidative phosphorylation deficiency|COXPD4|combined oxidative phosphorylation defect type 4|combined oxidative phosphorylation deficiency caused by mutation in TUFM OMIM:610678|ICD10:E88.8|Orphanet:254925|DOID:0111494|MESH:C565690|UMLS:C1857682|SCTID:766876004 owl:Class MONDO:0014944 biolink:NamedThing short stature-brachydactyly-obesity-global developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl SBIDDS|short stature, brachydactyly, intellectual developmental disability, and seizures Orphanet:464288|UMLS:C4310689|OMIM:617157 owl:Class MONDO:0004666 biolink:NamedThing metagonimiasis An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpak2llvmy_mondo_relaxed.owl infections, Metagonimus yokogawai|infection by Metagonimus yokogawai|Metagonimus yokogawai infection DOID:884|ICD9:121.5|SCTID:37832003|GARD:0009745|ICD10:B66.8|NCIT:C128390|UMLS:C0025530 https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis owl:Class GO:1904410 biolink:NamedThing negative regulation of secretory granule organization Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. tmpak2llvmy_mondo_relaxed.owl down regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organisation|negative regulation of secretory granule organization and biogenesis|inhibition of secretory granule organization|down regulation of secretory granule organization|down-regulation of secretory granule organization|inhibition of secretory granule organisation|downregulation of secretory granule organization|inhibition of secretory granule organization and biogenesis|downregulation of secretory granule organisation|down regulation of secretory granule organisation|downregulation of secretory granule organization and biogenesis|down-regulation of secretory granule organisation|down-regulation of secretory granule organization and biogenesis owl:Class UBERON:0011921 biolink:NamedThing connecting stalk blood islands tmpak2llvmy_mondo_relaxed.owl insula sanguinea vesiculae umbilicalis|blood island of umbilical vesicle owl:Class HGNC:31582 biolink:NamedThing MIR204 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013310 biolink:NamedThing congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. tmpak2llvmy_mondo_relaxed.owl disordered steroidogenesis due to cytochrome P450 oxidoreductase|PORD|congenital adrenal hyperplasia due to cytochrome POR deficiency|disordered steroidogenesis due to POR deficiency|POR deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency ICD10:E25.0|SCTID:715733000|GARD:0012664|Orphanet:95699|OMIM:613571 https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency owl:Class UBERON:0006071 biolink:NamedThing caudal region Subdivision of an organism along anterior-posterior axis that is the posteriormost region, extending past the anus (or cloaca, if present), consisting of a tail in some fully formed chordates (or a tail bud in embryos). In animals that have a sacral region, this is the region immediately posterior to this. tmpak2llvmy_mondo_relaxed.owl post-anal caudal region|postsacral region|post-anal tail region|tail region owl:Class UBERON:0011676 biolink:NamedThing subdivision of organism along main body axis A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. tmpak2llvmy_mondo_relaxed.owl main body segment|body segment|axial subdivision of organism owl:Class MONDO:0025149 biolink:NamedThing encephalopathy, bovine spongiform A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) tmpak2llvmy_mondo_relaxed.owl Mad cow diseases|Mad cow disease|bovine spongiform encephalitis|spongiform encephalopathy, bovine|encephalitis, bovine spongiform|bovine spongiform encephalopathy|BSE (bovine spongiform encephalopathy)|BSEs (bovine spongiform encephalopathy) MESH:D016643 owl:Class MONDO:0008951 biolink:NamedThing cerebrocortical degeneration of infancy tmpak2llvmy_mondo_relaxed.owl cerebrocortical degeneration of infancy UMLS:C1859257|MESH:C565863|OMIM:213950 owl:Class MONDO:0017587 biolink:NamedThing onychomatricoma A neoplasm involving a UBERON:0002283. tmpak2llvmy_mondo_relaxed.owl nail matrix tumor|neoplasm of nail matrix|tumor of nail matrix|nail matrix neoplasm UMLS:CN203393|Orphanet:300512 owl:Class MONDO:0017588 biolink:NamedThing nail tumor A neoplasm involving a nail. tmpak2llvmy_mondo_relaxed.owl nail neoplasm (disease)|neoplasm of nail|nail neoplasm|rare nail tumor|nail tumor|tumor of nail Orphanet:300515 owl:Class GO:0046928 biolink:NamedThing regulation of neurotransmitter secretion Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000078 biolink:NamedThing acrocephalopolysyndactyly A common presentation of craniosynostosis and polysyndactyly. tmpak2llvmy_mondo_relaxed.owl ACPS SCTID:205260006|UMLS:C0687154 owl:Class MONDO:0019796 biolink:NamedThing acrocephalosyndactyly Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. tmpak2llvmy_mondo_relaxed.owl acrocephalosyndactyly|acrocephalosyndactylia|ACS Orphanet:946|DOID:12960|EFO:0004123|SCTID:268262006|ICD10:Q87.0|NCIT:C34348|ICD9:755.55|GARD:0000486|MedDRA:10000590 owl:Class HGNC:6597 biolink:NamedThing LIFR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009847 biolink:NamedThing prostate field A specific region of the urogenital sinus epithelium into the area in which the prostate gland will develop. tmpak2llvmy_mondo_relaxed.owl prostate primordium owl:Class MONDO:0014243 biolink:NamedThing Schaaf-Yang syndrome tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|Prader-Willi-like syndrome|Chitayat-Hall syndrome|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies|Prader-Willi syndrome due to point mutation|PWS due to a point mutation|SHFYNG|Schaaf-Yang syndrome GARD:0010087|OMIM:615547|UMLS:C1859724|UMLS:C3809877|Orphanet:398069|GARD:0013316|MESH:C535385|OMIM:208080|ICD10:Q87.1 https://github.com/monarch-initiative/mondo/issues/3338 owl:Class HGNC:6541 biolink:NamedThing LDHB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012820 biolink:NamedThing colorectal cancer, susceptibility to, 3 Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, type 3|SMAD7 colorectal cancer|colorectal cancer, susceptibility to, on chromosome 18|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, 3|CRCS3|susceptibility to colorectal cancer 3 OMIM:612229 owl:Class MONDO:0000166 biolink:NamedThing encephalopathy, acute, infection-induced tmpak2llvmy_mondo_relaxed.owl OMIMPS:610551|UMLS:CN236791 owl:Class MONDO:0100054 biolink:NamedThing idiopathic anaphylaxis Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. tmpak2llvmy_mondo_relaxed.owl 2018-08-15 17:39:53+00:00 SCTID:241954008 owl:Class MONDO:0100053 biolink:NamedThing anaphylaxis An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. tmpak2llvmy_mondo_relaxed.owl systemic anaphylaxis|anaphylactic shock 2018-08-15 17:39:34+00:00 NCIT:C107101 owl:Class OBO:CHR_9606-chr5q biolink:NamedThing chr5q (Human) tmpak2llvmy_mondo_relaxed.owl 181538259 48800000 hg38 owl:Class GO:0050802 biolink:NamedThing circadian sleep/wake cycle, sleep The part of the circadian sleep/wake cycle where the organism is asleep. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022410 biolink:NamedThing circadian sleep/wake cycle process A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0056796 biolink:NamedThing obstructive nephropathy Renal damage and impaired renal function secondary to urinary tract obstruction. tmpak2llvmy_mondo_relaxed.owl obstructive nephropathy|congenital obstructive nephropathy UMLS:C0149939|ICD9:593.89|SCTID:86249007|NCIT:C120902|DOID:0070314 owl:Class CL:1000314 biolink:NamedThing gastric cardiac gland goblet cell A goblet cell that is part of the epithelium of gastric cardiac gland. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of gastric cardiac gland FMA:263038 cell owl:Class GO:0071326 biolink:NamedThing cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071322 biolink:NamedThing cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0026771 biolink:NamedThing developmental and epileptic encephalopathy, 85, with or without midline brain defects tmpak2llvmy_mondo_relaxed.owl EIEE85|DEE85, with or without midline brain defects|epileptic encephalopathy, early infantile, 85, with or without midline brain defects OMIM:301044 owl:Class PR:000001024 biolink:NamedThing neural cell adhesion molecule 1 tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001023 biolink:NamedThing neural cell adhesion molecule NCAM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000739 biolink:NamedThing uvulitis Inflammation of the uvula. tmpak2llvmy_mondo_relaxed.owl acute uvulitis|palatine uvula inflammation|inflammation of palatine uvula SCTID:300932000|MedDRA:10051962|NCIT:C128385|ICD10:K12.2|UMLS:C0042174|DOID:0060310|ICD9:528.3 owl:Class MONDO:0044987 biolink:NamedThing face disease A disease or disorder that involves the face. tmpak2llvmy_mondo_relaxed.owl face disease or disorder|disease of face|disease or disorder of face|disorder of face|face disease UMLS:C1290857|SCTID:118930001 owl:Class MONDO:0005579 biolink:NamedThing epilepsy, idiopathic generalized A chronic condition characterised by recurrent generalised seizures. tmpak2llvmy_mondo_relaxed.owl generalized epilepsy|idiopathic generalized epilepsy|EIG|generalised epilepsy|epilepsy, idiopathic generalized MESH:D004829|NCIT:C3021|OMIMPS:600669|DOID:1827|EFO:0005917|SCTID:19598007 owl:Class GO:1901533 biolink:NamedThing negative regulation of hematopoietic progenitor cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of haematopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|downregulation of haemopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation owl:Class GO:0045596 biolink:NamedThing negative regulation of cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. tmpak2llvmy_mondo_relaxed.owl down-regulation of cell differentiation|inhibition of cell differentiation|down regulation of cell differentiation|downregulation of cell differentiation owl:Class MONDO:0012478 biolink:NamedThing orofacial cleft 9 tmpak2llvmy_mondo_relaxed.owl OFC9|cleft lip with or without cleft palate, nonsyndromic, 9|orofacial cleft 9 OMIM:610361|MESH:C563675|DOID:0080402|UMLS:C1835894 owl:Class MONDO:0008873 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism, type 3 tmpak2llvmy_mondo_relaxed.owl Mopd 3|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|osteodysplastic primordial dwarfism, type 3|Mopd, Caroline Crachami type|microcephalic osteodysplastic primordial dwarfism, type III|Mopd, Sicilian fairy type OMIM:210730|UMLS:C1859439|MESH:C537320 owl:Class MONDO:0000060 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism tmpak2llvmy_mondo_relaxed.owl UMLS:CN239360 owl:Class OBO:CHR_9606-chr11 biolink:NamedThing chr11 (Human) tmpak2llvmy_mondo_relaxed.owl 135086622 0 hg38 owl:Class ENVO:01001044 biolink:NamedThing soil environment An environmental system which has its properties and dynamics determined by soil. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000998 biolink:NamedThing environmental system determined by a material An environmental system within which an environmental material strongly influences the system's composition and properties. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410034 biolink:NamedThing lymph node artery An artery that enters the lymph node at the hilum and branches into smaller arterioles. tmpak2llvmy_mondo_relaxed.owl hilar artery of lymph node|artery of lymph node owl:Class GO:0034308 biolink:NamedThing primary alcohol metabolic process The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpak2llvmy_mondo_relaxed.owl monohydric alcohol metabolic process|primary alcohol metabolism owl:Class MONDO:0014118 biolink:NamedThing congenital neutropenia-myelofibrosis-nephromegaly syndrome tmpak2llvmy_mondo_relaxed.owl congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome|SCN5|vps45 deficiency|neutropenia, severe congenital, 5, autosomal recessive ICD10:D70|UMLS:C3809031|OMIM:615285|Orphanet:369852 owl:Class MONDO:0002604 biolink:NamedThing pericytic neoplasm A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpak2llvmy_mondo_relaxed.owl perivascular tumor|Pericytic neoplasm|Pericytic tumor|perivascular neoplasm|malignant perivascular cancer DOID:3316|NCIT:C6528|UMLS:C1335392 owl:Class UBERON:0009671 biolink:NamedThing nasal fin The nasal fin is an epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings. Shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000405 biolink:NamedThing anal canal cancer A malignant neoplasm involving the anal canal tmpak2llvmy_mondo_relaxed.owl anal canal cancer|malignant anal canal neoplasm|malignant neoplasm of anal canal|cancer of anal canal DOID:0050688|UMLS:C0153445|ICD9:154.2|SCTID:363352004 owl:Class MONDO:0008151 biolink:NamedThing gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl Levin syndrome 2|GNATHODIAPHYSEAL dysplasia|GDD|gnathodiaphyseal dysplasia|Gnathodiaphyseal sclerosis|osteogenesis imperfecta Levin type|osteogenesis imperfecta with unusual skeletal lesions UMLS:C1833736|OMIM:166260|Orphanet:53697|DOID:0111533|GARD:0008698|SCTID:715568002|MESH:C536039 owl:Class NCBITaxon:27841 biolink:NamedThing Echinostomata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007371 biolink:NamedThing superior surface of tongue The upper (superior) side of the tongue. tmpak2llvmy_mondo_relaxed.owl dorsal surface of tongue owl:Class UBERON:0007367 biolink:NamedThing surface of tongue An anatomical surface that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl tongue surface owl:Class UBERON:0009773 biolink:NamedThing renal tubule A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. tmpak2llvmy_mondo_relaxed.owl tubule of excretory system|renal tubule (generic) owl:Class UBERON:0018247 biolink:NamedThing cervical thymic artery An artery that supplies a cervical thymus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036288 biolink:NamedThing anterior wall of left ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004784 biolink:NamedThing heart ventricle wall An anatomical wall that is part of a cardiac ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl wall of heart ventricle|wall of cardiac ventricle|wall of ventricle|ventricle of heart anatomical wall|ventricle of heart wall|lower chamber of heart wall|heart ventricle anatomical wall|anatomical wall of ventricle of heart|anatomical wall of lower chamber of heart|lower chamber of heart anatomical wall|anatomical wall of cardiac ventricle|cardiac ventricle anatomical wall|cardiac ventricle wall|ventricular wall|wall of lower chamber of heart|anatomical wall of heart ventricle|wall of ventricle of heart owl:Class MONDO:0032724 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 3 tmpak2llvmy_mondo_relaxed.owl SEMDJL3|SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 DOID:0112200|OMIM:618395 owl:Class MONDO:0019675 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with joint laxity, Beighton type|SEMDJL|spondyloepimetaphyseal dysplasia with joint laxity|SEMD-JL|spondyloepimetaphyseal dysplasia with joint laxity type 1|spondyloepimetaphyseal dysplasia joint laxity|SEMDJL1 ICD10:Q77.7|ICD9:719.80|ICD9:756.9|GARD:0004982|Orphanet:93359|DOID:0112197|MESH:C562968|OMIMPS:271640|SCTID:254100000 owl:Class MONDO:0011244 biolink:NamedThing Marshall-Smith syndrome Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. tmpak2llvmy_mondo_relaxed.owl MRSHSS|accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|Marshall-SMITH syndrome|Marshall-Smith syndrome MESH:C536026|SCTID:73284007|ICD9:759.89|UMLS:C0265211|GARD:0006985|DOID:0050858|Orphanet:561|ICD10:Q87.3|OMIM:602535 https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome owl:Class MONDO:0012570 biolink:NamedThing body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. tmpak2llvmy_mondo_relaxed.owl pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|pseudoxanthoma elasticum-like syndrome|PXE-like disorder with multiple coagulation Factor deficiency|PXE-like syndrome ICD10:D68.4|OMIM:610842|UMLS:C1835813|UMLS:C4049241|SCTID:717941005|MESH:C563654|Orphanet:91135 owl:Class MONDO:0019292 biolink:NamedThing dermis elastic tissue disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:79378|UMLS:CN227616 owl:Class CL:0002491 biolink:NamedThing auditory epithelial cell A specialized cell involved in auditory sensory perception. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-12-06T03:18:43Z cell owl:Class MONDO:0019066 biolink:NamedThing syndrome with brachydactyly Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. tmpak2llvmy_mondo_relaxed.owl dysostosis with brachydactyly 2022-03-01 ICD10:Q73.8|UMLS:CN205546|Orphanet:69028 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class NCBITaxon:44537 biolink:NamedThing Pyretophorus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:44534 biolink:NamedThing Cellia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015443 biolink:NamedThing chromosome 8-derived supernumerary ring/marker Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. tmpak2llvmy_mondo_relaxed.owl chromosome 8 ring|Ring 8|supernumerary ring/marker 8|R8|ring chromosome 8|rose cluster 8|Ring chromosome 8 syndrome|r(8) syndrome ICD10:Q93.2|GARD:0001347|Orphanet:1450|GTR:AN0101479|NCIT:C121988|SCTID:715983001|MESH:C537824|GTR:AN0101480|UMLS:CN036129 owl:Class MONDO:0014918 biolink:NamedThing tall stature-intellectual disability-renal anomalies syndrome tmpak2llvmy_mondo_relaxed.owl THAUVIN-robinet-Faivre syndrome|Thauvin-robinet-Faivre syndrome|TROFAS Orphanet:500095|UMLS:C4310715|OMIM:617107 owl:Class GO:0009967 biolink:NamedThing positive regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. tmpak2llvmy_mondo_relaxed.owl up regulation of signal transduction|activation of signal transduction|positive regulation of signaling pathway|upregulation of signal transduction|stimulation of signal transduction|positive regulation of signalling pathway|up-regulation of signal transduction owl:Class GO:0048584 biolink:NamedThing positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpak2llvmy_mondo_relaxed.owl stimulation of response to stimulus|activation of response to stimulus|up-regulation of response to stimulus|up regulation of response to stimulus|upregulation of response to stimulus owl:Class MONDO:0020145 biolink:NamedThing developmental defect of the eye tmpak2llvmy_mondo_relaxed.owl Orphanet:98553 owl:Class UBERON:0012281 biolink:NamedThing perianal sebaceous gland A holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus. tmpak2llvmy_mondo_relaxed.owl circumanal gland|perianal gland owl:Class MONDO:0004250 biolink:NamedThing extrahepatic bile duct papillary adenoma An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. tmpak2llvmy_mondo_relaxed.owl papillary adenoma of extrahepatic bile duct|extrahepatic bile duct papillary adenoma|papillary adenoma of the extrahepatic bile duct UMLS:C1333510|NCIT:C5849|DOID:7503 owl:Class MONDO:0025598 biolink:NamedThing pneumonia caused by chlamydia An pneumonia caused by infection with Chlamydia. tmpak2llvmy_mondo_relaxed.owl chlamydia pneumonia|Chlamydia pneumonia|Chlamydia caused pneumonia|chlamydial pneumonia MESH:D061387|ICD9:483.1|SCTID:233609002|UMLS:C0339959|ICD10:J16.0|DOID:0040083 owl:Class HGNC:1260 biolink:NamedThing CFAP410 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090284 biolink:NamedThing positive regulation of protein glycosylation in Golgi Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl positive regulation of protein amino acid glycosylation in Golgi owl:Class GO:0060050 biolink:NamedThing positive regulation of protein glycosylation Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpak2llvmy_mondo_relaxed.owl positive regulation of protein amino acid glycosylation owl:Class MONDO:0022960 biolink:NamedThing dermatocardioskeletal syndrome boronne type tmpak2llvmy_mondo_relaxed.owl GARD:0001812 https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type owl:Class HGNC:18884 biolink:NamedThing TDP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003301 biolink:NamedThing dartoic leiomyoma A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. tmpak2llvmy_mondo_relaxed.owl leiomyoma of dartos muscle|dartoic leiomyoma|dartoic myoma|dartos muscle leiomyoma DOID:5147|NCIT:C4483|UMLS:C0346066|SCTID:254770007|ICD9:215.9 owl:Class MONDO:0021581 biolink:NamedThing connective tissue neoplasm Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. tmpak2llvmy_mondo_relaxed.owl neoplasm of connective tissues|neoplasm, connective tissue|connective tissue tumor|connective tissue neoplasms|tumour of connective tissue|neoplasm of connective tissue|connective tissue neoplasm (disease)|tumor of connective tissue|connective tissue neoplasm MESH:D009372|ICD9:239.2|SCTID:126598008|UMLS:C0027656 owl:Class CHEBI:32504 biolink:NamedThing phenylalaninate An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. tmpak2llvmy_mondo_relaxed.owl phenylalanine anion|phenylalaninate|2-amino-3-phenylpropanoate owl:Class CHEBI:33558 biolink:NamedThing alpha-amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. tmpak2llvmy_mondo_relaxed.owl alpha-amino acid anions|alpha-amino-acid anion|alpha-amino-acid anions owl:Class MONDO:0007001 biolink:NamedThing tricuspid valve prolapse Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. tmpak2llvmy_mondo_relaxed.owl tricuspid valve prolapse (disease)|tricuspid valve prolapse tricuspid valve prolapse (disease) MESH:D014263|SCTID:253383003|HP:0001704|MedDRA:10066862|DOID:5644|EFO:1001218|UMLS:C0040962|ICD10:Q22.8|Orphanet:95458 owl:Class MONDO:0002073 biolink:NamedThing malignant pineal area germ cell neoplasm A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl pineal region germ cell tumor|malignant germ cell tumor of the pineal parenchyma|pineal region germinoma|pineal cell tumour|malignant germ cell neoplasm of the pineal gland|malignant pineal gland germ cell neoplasm|pineal cell tumor|malignant germ cell tumor of the pineal gland|malignant pineal region germ cell tumor|malignant pineal gland germ cell tumor|malignant pineal region germ cell neoplasm|malignant germ cell neoplasm of pineal gland|pineal germ cell neoplasm, malignant|pineal germ cell tumor|malignant germ cell tumor of pineal parenchyma|malignant germ cell neoplasm of pineal parenchyma|malignant pineal parenchymal germ cell tumor|malignant pineal parenchymal germ cell neoplasm|malignant pineal area germ cell tumor|malignant germ cell tumor of pineal gland|malignant germ cell neoplasm of the pineal parenchyma SCTID:277508009|NCIT:C6767|GARD:0012017|UMLS:C1334612|UMLS:C0349621|DOID:1660|ICD9:239.7 owl:Class UBERON:0007830 biolink:NamedThing pelvic girdle bone/zone A bone element or fused bone that is part of pelvic girdle. tmpak2llvmy_mondo_relaxed.owl bone of pelvic girdle|pelvic girdle bone owl:Class UBERON:0014501 biolink:NamedThing proximal phalanx of digit 1 A proximal phalanx that is part of a autopod digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal phalanx of digit I|digit I-1|digit I P1|proximal phalanx of first digit of autopod|first proximal phalanx of autopod owl:Class UBERON:0004302 biolink:NamedThing proximal phalanx Proximal-most phalanx within a digit. tmpak2llvmy_mondo_relaxed.owl proximal-most phalanx|phalanx I|phalanx 1 owl:Class MONDO:0002731 biolink:NamedThing cerebral hemisphere cancer A cancer that involves the cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl malignant telencephalon neoplasm|malignant neoplasm of cerebrum|malignant neoplasm of cerebral hemispheres|malignant cerebral hemispheric neoplasm|malignant cerebral hemispheric tumor|tumor of cerebrum|malignant tumor of cerebrum|cerebrum cancer|cancer of telencephalon|cancer of cerebral hemisphere|malignant tumor of the cerebral hemispheres|malignant neoplasm of telencephalon|cerebral cancer|malignant neoplasm of the cerebrum|malignant neoplasm of cerebral hemisphere|telencephalon cancer|malignant cerebral neoplasm|malignant tumor of cerebral hemispheres|malignant cerebral tumor|malignant neoplasm of the cerebral hemispheres|malignant cerebral hemisphere neoplasm|malignant tumor of the cerebrum DOID:368|SCTID:429033009|ICD9:191.8|NCIT:C4577 owl:Class CL:0002336 biolink:NamedThing buccal mucosa cell An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-20T02:52:54Z cell owl:Class CL:0002261 biolink:NamedThing endothelial cell of viscerocranial mucosa An endothelial cell found in the mucosa associated with the facial skeleton. tmpak2llvmy_mondo_relaxed.owl FMA:70627 tmeehan 2010-09-14T10:40:12Z CL:1000446 cell owl:Class HGNC:24519 biolink:NamedThing TCTN3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003198 biolink:NamedThing small intestine adenocarcinoma An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpak2llvmy_mondo_relaxed.owl small intestine adenocarcinoma|adenocarcinoma - small intest.|small bowel adenocarcinoma|adenocarcinoma of small bowel|adenocarcinoma of the small bowel|adenocarcinoma of the small instestine|adenocarcinoma of small instestine|adenocarcinoma of the small intestine|adenocarcinoma of small intestine|small intestinal adenocarcinoma GARD:0013090|DOID:4906|NCIT:C7888|EFO:1000532|UMLS:C0278803|Orphanet:104075|SCTID:424440001|ICD10:D01.4 owl:Class MONDO:0005522 biolink:NamedThing small intestine carcinoma A carcinoma that arises from epithelial cells of the small intestine tmpak2llvmy_mondo_relaxed.owl small intestine cancer|small bowel carcinoma|small bowel cancer|cancer of small bowel|carcinoma of the small intestine|carcinoma of small bowel|small intestine carcinoma|small intestinal carcinoma|carcinoma of the small bowel|cancer of the small bowel|small intestine cancer, NOS|carcinoma of small intestine|small intestinal cancer ONCOTREE:SIC|NCIT:C7724|DOID:4907|SCTID:448664009|EFO:0005588 owl:Class MONDO:0060568 biolink:NamedThing Pilarowski-Bjornsson syndrome tmpak2llvmy_mondo_relaxed.owl Pilarowski-Bjornsson syndrome|PILBOS|developmental delay and speech apraxia with or without seizures UMLS:C4540131|OMIM:617682|Orphanet:529965 owl:Class UBERON:0004819 biolink:NamedThing kidney epithelium the cellular avascular layer of the kidney luminar surfaces tmpak2llvmy_mondo_relaxed.owl epithelium of kidney|kidney epithelial tissue|renal epithelium|epithelial tissue of kidney owl:Class CL:0011005 biolink:NamedThing GABAergic interneuron An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory tmpak2llvmy_mondo_relaxed.owl GABAergic inhibitory interneuron The formal and textual definitions of this term will need to be altered if evidence for non-inhibitory GABA-ergic neurons emerges. owl:Class CL:0000617 biolink:NamedThing GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter tmpak2llvmy_mondo_relaxed.owl GABA-ergic neuron FMA:84788|WBbt:0005190 cell owl:Class MONDO:0012513 biolink:NamedThing maturity-onset diabetes of the young type 7 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus MODY type 7|type 7 maturity-onset diabetes of the young|MODY type 7|maturity-onset diabetes of the young, type 7|MODY KLF11 related|maturity-onset diabetes of the young (disease) caused by mutation in KLF11|KLF11 maturity-onset diabetes of the young (disease)|MODY7 SCTID:609574004|MESH:C566466|OMIM:610508|UMLS:C1864839|DOID:0111106|GARD:0010661 https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 owl:Class GO:0031344 biolink:NamedThing regulation of cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpak2llvmy_mondo_relaxed.owl regulation of cell projection organization and biogenesis|regulation of cell projection organisation owl:Class MONDO:0010149 biolink:NamedThing transcobalamin II deficiency Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. tmpak2llvmy_mondo_relaxed.owl TC 2 deficiency|transcobalamin II deficiency|inherited deficiency of transcobalamin|Tcn2 deficiency|transcobalamin 2 deficiency|transcobalamin deficiency|TCN2 deficiency SCTID:237934001|OMIM:275350|DOID:0050818|NCIT:C142806|UMLS:C0342701|ICD10:D51.2|Orphanet:859|GARD:0012338 owl:Class MONDO:0010491 biolink:NamedThing X-linked acrogigantism due to Xq26 microduplication tmpak2llvmy_mondo_relaxed.owl X-linked acrogigantism|familial infantile gigantism due to dup(X)q(26)|chromosome Xq26.3 DUPLICATION syndrome|chromosome Xq26 microduplication syndrome|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|familial infantile gigantism due to Xq26 microduplication SCTID:768472004|Orphanet:448372|OMIM:300942|UMLS:C3891556|ICD10:E22.0|UMLS:CN237731 owl:Class MONDO:0017581 biolink:NamedThing familial infantile gigantism tmpak2llvmy_mondo_relaxed.owl infantile gigantism due to pituitary hyperplasia|X-LAG (X-linked acrogigantism)|hereditary infantile gigantism|hereditary pituitary hyperplasia UMLS:CN203384|ICD10:E22.0|Orphanet:300373 owl:Class GO:1901228 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in heart development Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpak2llvmy_mondo_relaxed.owl upregulation of transcription from RNA polymerase II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in heart development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from Pol II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development owl:Class GO:1901213 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in heart development Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time. tmpak2llvmy_mondo_relaxed.owl global transcription regulation from Pol II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in heart development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|regulation of global transcription from Pol II promoter involved in heart development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in dorsal vessel development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in heart development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development owl:Class MONDO:0600009 biolink:NamedThing severe hypophosphatasia Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0018570 biolink:NamedThing hypophosphatasia Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). tmpak2llvmy_mondo_relaxed.owl phosphoethanol-aminuria|childhood hypophosphatasia|deficiency of alkaline phosphatase|hypophospatasia, childhood|HPP|deficiency of alkaline phosphatase (disorder) [ambiguous]|Rathburn disease|phosphoethanolaminuria|hypophosphatasia mild GARD:0006734|MESH:D007014|ICD10:E83.3|NCIT:C26798|Orphanet:436|ICD10:E83.39|UMLS:C0020630|SCTID:360792001|ICD9:277.6|DOID:14213|MedDRA:10049933 owl:Class MONDO:0006907 biolink:NamedThing pilar sheath acanthoma A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. tmpak2llvmy_mondo_relaxed.owl acanthoma of the Pilar sheath|Infundibuloisthmicoma|Pilar sheath acanthoma|acanthoma of Pilar sheath UMLS:C0346005|SCTID:254693008|DOID:4322|EFO:1001107|NCIT:C4468 owl:Class MONDO:0032643 biolink:NamedThing pontocerebellar hypoplasia, type 12 tmpak2llvmy_mondo_relaxed.owl PCH12|PONTOCEREBELLAR HYPOPLASIA, TYPE 12 OMIM:618266 owl:Class MONDO:0016259 biolink:NamedThing carcinosarcoma of the corpus uteri An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component. tmpak2llvmy_mondo_relaxed.owl carcinosarcoma of uterine corpus|malignant mixed mesodermal neoplasm of the uterine body|malignant mixed mesodermal neoplasm of uterus|malignant mixed mesodermal tumor of the uterine body|carcinosarcoma of the uterine corpus|uterine mixed Müllerian sarcoma|uterine corpus malignant mixed mesodermal (Mullerian) tumor|malignant mixed Müllerian tumor of the corpus uteri|uterine corpus carcinosarcoma|uterine corpus malignant mixed mesodermal neoplasm|carcinosarcoma of the uterine body|uterine body malignant mixed mesodermal tumor|carcinosarcoma of corpus uteri|malignant mixed mesodermal tumor of the uterus|carcinosarcoma of the uterus|uterine corpus malignant mixed Müllerian neoplasm|uterine malignant mixed mesodermal tumor|uterine body carcinosarcoma|uterine corpus malignant mixed mesodermal (Müllerian) tumor|uterine carcinosarcoma|malignant mixed mesodermal tumor of uterine corpus|uterine corpus malignant mixed Müllerian tumor|malignant mixed mesodermal neoplasm of the uterine corpus|malignant mixed mesodermal tumor of the uterine corpus|mixed Müllerian sarcoma of the uterus|body of uterus carcinosarcoma|corpus uteri malignant mixed mesodermal tumor|uterine corpus malignant mixed Mullerian tumor|malignant mixed mesodermal neoplasm of the uterus|mixed Mullerian cancer of corpus uteri|uterine body malignant mixed mesodermal neoplasm|uterine corpus malignant mixed Mullerian neoplasm|carcinosarcoma of uterine body|uterine malignant mixed mesodermal neoplasm|mixed Müllerian cancer of corpus uteri|carcinosarcoma of uterus|mixed Mullerian sarcoma of uterus|carcinosarcoma of the corpus uteri|mixed Mullerian sarcoma of the uterus|malignant mixed mesodermal neoplasm of uterine body|malignant mixed mesodermal tumor of uterus|malignant mixed Mullerian tumor of the corpus uteri|malignant mixed mesodermal tumor of uterine body|uterine corpus malignant mixed mesodermal tumor|mixed Müllerian sarcoma of uterus|uterine mixed Mullerian sarcoma|malignant mixed mesodermal neoplasm of uterine corpus|malignant mixed müllerian tumor of corpus uteri GARD:0012335|NCIT:C9180|ICD10:C54.9|Orphanet:213610 owl:Class MONDO:0006485 biolink:NamedThing uterine carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. tmpak2llvmy_mondo_relaxed.owl mixed mullerian sarcoma of uterus|carcinosarcoma of the uterus|uterine malignant mixed mesodermal (Müllerian) tumor|uterine carcinosarcoma|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Mullerian) tumor|uterus carcinosarcoma|malignant mixed mesodermal (Müllerian) tumor of the uterus|malignant mixed mesodermal (Mullerian) tumor of the uterus SCTID:702369008|ONCOTREE:UCS|UMLS:C0280630|NCIT:C42700|EFO:1000613|DOID:6171|MESH:D012192 owl:Class UBERON:0011878 biolink:NamedThing muscle layer of esophagus A muscle layer that is part of a wall of esophagus. tmpak2llvmy_mondo_relaxed.owl tunica muscularis esophagi|muscle coat of esophagus|muscular layer of oesophagus|tunica muscularis oesophageae|tela muscularis (oesophagus)|muscular coat of oesophagus owl:Class UBERON:0018261 biolink:NamedThing muscular coat of digestive tract A muscular coat that is part of a digestive tract. tmpak2llvmy_mondo_relaxed.owl muscular layer of digestive tract|tunica muscularis of digestive tract|muscularis externa of digestive tract|tunica externa of digestive tract owl:Class MONDO:0006502 biolink:NamedThing acute respiratory distress syndrome Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. tmpak2llvmy_mondo_relaxed.owl ARDS|non-cardiogenic pulmonary edema|acute respiratory distress syndrome|acute lung injury|Stiff lung|increased-permeability pulmonary edema|ALI|shock lung NCIT:C3353|ICD10:J80|MedDRA:10001052|EFO:1000637|GARD:0005698 This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] owl:Class MONDO:0001208 biolink:NamedThing acute respiratory failure Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. tmpak2llvmy_mondo_relaxed.owl acute respiratory failure|respiratory failure, acute UMLS:C0264490|SCTID:65710008|ICD9:518.81|NCIT:C27043 owl:Class CL:0000076 biolink:NamedThing squamous epithelial cell tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-1249 cell owl:Class GO:0002581 biolink:NamedThing negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpak2llvmy_mondo_relaxed.owl negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II owl:Class GO:0002578 biolink:NamedThing negative regulation of antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. tmpak2llvmy_mondo_relaxed.owl down-regulation of antigen processing and presentation|downregulation of antigen processing and presentation|inhibition of antigen processing and presentation|down regulation of antigen processing and presentation owl:Class MONDO:0009035 biolink:NamedThing craniometaphyseal dysplasia, autosomal recessive Autosomal recessive form of craniometaphyseal dysplasia. tmpak2llvmy_mondo_relaxed.owl craniometaphyseal dysplasia, autosomal recessive|autosomal recessive craniometaphyseal dysplasia|craniometaphyseal dysplasia, autosomal recessive type|CMDR GARD:0001582|OMIM:218400|MESH:C536570 owl:Class HGNC:12630 biolink:NamedThing USP7 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:567 biolink:NamedThing AP3B2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009888 biolink:NamedThing tissue development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl histogenesis and organogenesis|histogenesis owl:Class GO:0048856 biolink:NamedThing anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpak2llvmy_mondo_relaxed.owl development of an anatomical structure owl:Class HP:0000256 biolink:NamedThing Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. tmpak2llvmy_mondo_relaxed.owl Increased size of head|Big skull|Increased size of skull|Large head circumference|Large cranium|Macrocrania|Big calvaria|Big head|Increased size of cranium|Large head|Big cranium|Large calvaria|Megacephaly|Large skull Fyler:4335|UMLS:C4280664|UMLS:C4083076|UMLS:C4255213|UMLS:C4280663 Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0200135|HP:0005496|HP:0005491 human_phenotype owl:Class HP:0040194 biolink:NamedThing Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. tmpak2llvmy_mondo_relaxed.owl Increased head circumference UMLS:C4083076 human_phenotype owl:Class UBERON:0001169 biolink:NamedThing wall of large intestine An anatomical wall that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anatomical wall of large intestine|large intestine anatomical wall|large intestinal wall|large intestine wall owl:Class UBERON:0001262 biolink:NamedThing wall of intestine An anatomical wall that is part of a intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anatomical wall of intestine|bowel anatomical wall|intestinal wall|wall of bowel|bowel wall|intestine wall|anatomical wall of bowel|intestine anatomical wall owl:Class UBERON:0018116 biolink:NamedThing right renal pelvis A renal pelvis that is part of a right ureter. tmpak2llvmy_mondo_relaxed.owl pelvis of right kidney|pelvis of right ureter owl:Class UBERON:0001224 biolink:NamedThing renal pelvis A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. tmpak2llvmy_mondo_relaxed.owl pelvis of ureter|pyelum|p. renallis|kidney pelvis owl:Class MONDO:0004608 biolink:NamedThing oropharynx cancer A primary or metastatic malignant neoplasm that affects the oropharynx. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of oropharynx|malignant neoplasm of lateral wall of oropharynx|cancer of oropharynx|primary malignant neoplasm of lateral wall of oropharynx|malignant oropharyngeal tumor|malignant oropharyngeal neoplasm|malignant tumor of posterior wall of oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant tumor of oropharynx|malignant neoplasm of the oropharynx|malignant tumor of the oropharynx|malignant oropharynx neoplasm|oropharynx cancer|malignant tumour of mesopharynx|oropharyngeal cancer|oropharyngeal carcinoma|malignant neoplasm of junctional region of oropharynx UMLS:C3165521|ICD10:C10.9|ICD10:C10.2|ICD10:C10.8|ICD9:146.9|EFO:1001931|ICD9:146.5|UMLS:C2349952|NCIT:C7398|ICD10:C10|GARD:0009358|ICD9:146.6|MESH:D009959|ICD9:146.7|UMLS:C0153390|UMLS:C0153389|ICD9:146|ICD10:C10.3|UMLS:C0153382|DOID:8557 owl:Class HP:0100603 biolink:NamedThing Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. tmpak2llvmy_mondo_relaxed.owl Hypertensive disorder of pregnancy|Toxaemia of pregnancy UMLS:C0032914|SNOMEDCT_US:398254007|SNOMEDCT_US:15394000|MSH:D011225 doelkens 2010-12-27T05:27:41Z human_phenotype owl:Class HP:0002686 biolink:NamedThing Prenatal maternal abnormality tmpak2llvmy_mondo_relaxed.owl Maternal health problem UMLS:C4025690 human_phenotype owl:Class MONDO:0018266 biolink:NamedThing ataxia - telangiectasia variant Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. tmpak2llvmy_mondo_relaxed.owl v-AT Orphanet:370109|ICD10:G11.3|UMLS:C1876175 owl:Class UBERON:5001463 biolink:NamedThing manual digit 1 plus metapodial segment A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl manual digit 1|manual digit I plus metapodial segment|manual digit 1 digitopodial subdivision|manual digit 1 ( phalanges plus metapodial) plus soft tissue|manual digit 1 ray owl:Class UBERON:5002389 biolink:NamedThing manual digit plus metapodial segment A subdivision of the autopod consisting of manual digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl manual digit ( phalanges plus metapodial) plus soft tissue|manual digit|manual digit digitopodial subdivision|manual digit ray owl:Class MONDO:0005470 biolink:NamedThing postprandial hypotension Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines. tmpak2llvmy_mondo_relaxed.owl EFO:0005253 owl:Class MONDO:0005468 biolink:NamedThing hypotensive disorder Blood pressure that is abnormally low. tmpak2llvmy_mondo_relaxed.owl hypotension (disease)|hypotension ICD9:458|ICD9:458.8|HP:0002615|SCTID:45007003|ICD9:458.9|MESH:D007022|EFO:0005251 owl:Class MONDO:0012095 biolink:NamedThing intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. tmpak2llvmy_mondo_relaxed.owl ROBIN sequence with distinctive facial appearance and brachydactyly UMLS:C1837564|MESH:C563880|ICD10:Q87.0|Orphanet:364577|OMIM:608670 owl:Class HGNC:9817 biolink:NamedThing RAD51 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015716 biolink:NamedThing anal canal epithelium A epithelium that is part of a anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal epithelium|epithelium of anal canal owl:Class GO:0031967 biolink:NamedThing organelle envelope A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031975 biolink:NamedThing envelope A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005682 biolink:NamedThing bronchopneumonia Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. tmpak2llvmy_mondo_relaxed.owl lobular pneumonia|bronchial pneumonia|chest infection - bronchopneumonia|chest infection - unspecified bronchopneumonia DOID:12375|MESH:D001996|EFO:0007184|ICD9:485|ICD10:J18.0|SCTID:396285007|NCIT:C26710|UMLS:C0006285 owl:Class MONDO:0023067 biolink:NamedThing endemic Kaposi sarcoma tmpak2llvmy_mondo_relaxed.owl African Kaposi sarcoma|African/endemic Kaposi sarcoma GARD:0010431 https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma owl:Class MONDO:0005055 biolink:NamedThing Kaposi's sarcoma A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). tmpak2llvmy_mondo_relaxed.owl HHV8|Kaposi's sarcoma|Kaposi's sarcoma of esophagus|intestinal Kaposi's sarcoma|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of conjunctiva|Kaposi's sarcoma of soft tissue|pulmonary Kaposi's sarcoma|lymph node Kaposi's sarcoma|penis Kaposi's sarcoma|KSHV|Kaposi's sarcoma of central nervous system|prostate Kaposi's sarcoma|Kaposi's sarcoma of anus|KS|Kaposi's sarcoma of lung|gallbladder Kaposi's sarcoma|Kaposi's sarcoma, lung|Mediterranean Kaposi sarcoma|multiple hemorrhagic sarcoma|Kaposi's sarcoma of the CNS|Kaposi's sarcoma of cornea|gastric Kaposi's sarcoma|corneal Kaposi's sarcoma|conjunctival Kaposi's sarcoma|cutaneous Kaposi's sarcoma|Kaposi's sarcoma of palate|non AIDS related Kaposi sarcoma|African lymphadenopathic Kaposi's sarcoma|central nervous system Kaposi's sarcoma|Kaposi's sarcoma of skin|Kaposi sarcoma|Kaposi's sarcoma of heart|Kaposi's sarcoma, skin|Kaposi's sarcoma of lymph nodes|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma of penis|Kaposi's sarcoma of the gallbladder|human herpesvirus 8|anal Kaposi's sarcoma|cardiac Kaposi's sarcoma|Kaposi's sarcoma of the prostate|Kaposi's sarcoma (disease)|lymphadenopathic Kaposi's sarcoma|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of gastrointestinal sites|esophageal Kaposi's sarcoma|Kaposi sarcoma herpesvirus|palate Kaposi's sarcoma Kaposi's sarcoma (disease) ICD9:176.9|EFO:0000558|ICD10:C46.7|HP:0100726|ICDO:9140/3|SCTID:109385007|ICD9:176|ICD9:176.8|GARD:0006814|ICD10:C46.3|ICD10:C46.9|NCIT:C9087|ICD10:C46.8|DOID:8632|Orphanet:33276|ICD10:C46.0|ICD10:C46.2|ICD10:C46.1|MESH:D012514|MedDRA:10023284 owl:Class MONDO:0016825 biolink:NamedThing mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. tmpak2llvmy_mondo_relaxed.owl MMLA|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|mitochondrial myopathy with lactic acidosis GARD:0003682|ICD10:G71.3|OMIM:251950|Orphanet:2597|MESH:C537476 https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis owl:Class MONDO:0002287 biolink:NamedThing glandular cystitis A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. tmpak2llvmy_mondo_relaxed.owl cystitis glandularis NCIT:C39860|ICD9:595.89|SCTID:72815004|UMLS:C0268837|DOID:2392 owl:Class MONDO:0006030 biolink:NamedThing chronic cystitis Recurrent infections of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl cystitis, chronic DOID:1680|EFO:1000023|ICD10:N30.2|NCIT:C27008|SCTID:33655002|ICD9:595.2|UMLS:C0221763 owl:Class MONDO:0010241 biolink:NamedThing congenital stationary night blindness 2A Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene. tmpak2llvmy_mondo_relaxed.owl CSNB2A|CACNA1F congenital stationary night blindness|night blindness, congenital stationary, type 2|congenital stationary night blindness type 2A|night blindness, congenital stationary, type 2A|congenital stationary night blindness 2A X-linked|CSNB, incomplete, X-linked|congenital stationary night blindness caused by mutation in CACNA1F UMLS:C1848172|OMIM:300071|DOID:0110871 owl:Class MONDO:0044749 biolink:NamedThing X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness, X-linked|XLCSNB|X-linked CSNB UMLS:CN043584|GARD:0003995 owl:Class MONDO:0012227 biolink:NamedThing myopia 7 tmpak2llvmy_mondo_relaxed.owl myopia 7|MYP7 MESH:C563761|UMLS:C1836506|OMIM:609256 owl:Class MONDO:0017867 biolink:NamedThing distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. tmpak2llvmy_mondo_relaxed.owl distal del(17)(p13.1) Orphanet:319171|ICD10:Q93.5|UMLS:CN203914 owl:Class MONDO:0007864 biolink:NamedThing angioosteohypertrophic syndrome Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. tmpak2llvmy_mondo_relaxed.owl Klippel Trenaunay syndrome|Klippel-Trenaunay-Weber syndrome|angio-osteohypertrophy syndrome|Klippel-Trénaunay syndrome|Ktw syndrome|Klippel-Trénaunay-Weber syndrome|angioosteohypertrophy syndrome|haemangiectatic hypertrophy|Klippel-Trenaunay syndrome|KTS|Weber-Klippel-Trenaunay EFO:0007334|OMIM:149000|SCTID:721105004|DOID:2926|UMLS:CN201567|NCIT:C84801|Orphanet:2346|ICD10:Q87.2|GARD:0003122|UMLS:C0022739|MESH:D007715|MedDRA:10051452 https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome owl:Class GO:0000262 biolink:NamedThing mitochondrial chromosome A chromosome found in the mitochondrion of a eukaryotic cell. tmpak2llvmy_mondo_relaxed.owl mitochondrial genome|mtDNA|mitochondrial DNA owl:Class MONDO:0013841 biolink:NamedThing stuttering, familial persistent, 3 tmpak2llvmy_mondo_relaxed.owl STUT3|stuttering, familial persistent, 3 UMLS:C3553381|OMIM:614655 owl:Class MONDO:0000723 biolink:NamedThing stutter disorder A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. tmpak2llvmy_mondo_relaxed.owl stuttering|stutter|familial persistent stuttering|stuttering, familial persistent|stammering DOID:0060243|NCIT:C35043|OMIMPS:184450|ICD10:F80.81 Editor note: check this; consider subclass for familial owl:Class GO:0006955 biolink:NamedThing immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001715 biolink:NamedThing basilar artery occlusion tmpak2llvmy_mondo_relaxed.owl SCTID:195180004|DOID:13446|ICD9:433.0|ICD9:433.01|ICD9:433.00|ICD10:I65.1 owl:Class MONDO:0018801 biolink:NamedThing congenital bilateral absence of vas deferens Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. tmpak2llvmy_mondo_relaxed.owl congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens MedDRA:10010670|Orphanet:48|OMIMPS:277180|ICD9:752.89|ICD10:Q55.4|SCTID:275416002|GARD:0005461 owl:Class MONDO:0015933 biolink:NamedThing non-syndromic urogenital tract malformation of male A non-syndromic urogenital tract malformation that involves the male organism. tmpak2llvmy_mondo_relaxed.owl nonsyndromic urogenital tract malformation of male|male organism non-syndromic urogenital tract malformation|non-syndromic urogenital tract malformation of male organism|isolated urogenital tract malformation of male Orphanet:182121 owl:Class OBO:CHR_9606-chr5q3 biolink:NamedThing chr5q3 (Human) tmpak2llvmy_mondo_relaxed.owl 181538259 131200000 hg38 owl:Class MONDO:0018082 biolink:NamedThing aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. tmpak2llvmy_mondo_relaxed.owl aorto-ventricular tunnel (disease)|aorto-ventricular tunnel aorto-ventricular tunnel (disease) Orphanet:3400|HP:0011627|UMLS:CN225932|ICD10:Q20.8 owl:Class MONDO:0020293 biolink:NamedThing ascending aorta anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98725|ICD10:Q25.4 owl:Class MONDO:0002063 biolink:NamedThing breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas. tmpak2llvmy_mondo_relaxed.owl papillomatosis of the breast|papillomatosis of breast|breast papillomatosis NCIT:C6977|DOID:1634|UMLS:C1332636 owl:Class MONDO:0002363 biolink:NamedThing papilloma A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. tmpak2llvmy_mondo_relaxed.owl papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papilloma, benign|papilloma|papillomatosis NOS (morphologic abnormality) NCIT:C7440|MESH:D010212|DOID:2615|SCTID:711329002|ICDO:8050/0|UMLS:C0030354 owl:Class HGNC:25705 biolink:NamedThing KCTD17 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900424 biolink:NamedThing regulation of defense response to bacterium Any process that modulates the frequency, rate or extent of defense response to bacterium. tmpak2llvmy_mondo_relaxed.owl regulation of defence response to bacteria|regulation of defense response to bacteria|regulation of defence response to bacterium, incompatible interaction|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defence response to bacterium|regulation of antibacterial peptide activity|regulation of resistance response to pathogenic bacterium|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of defense response to bacterium, incompatible interaction|regulation of resistance response to pathogenic bacteria owl:Class MONDO:0011917 biolink:NamedThing focal segmental glomerulosclerosis 3, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. tmpak2llvmy_mondo_relaxed.owl FSGS3|CD2AP focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 3, susceptibility to|glomerulosclerosis, focal segmental, 3, susceptibility to|susceptibility to focal segmental glomerulosclerosis 3|focal segmental glomerulosclerosis caused by mutation in CD2AP OMIM:607832 owl:Class GO:0021700 biolink:NamedThing developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018716 biolink:NamedThing partially involuting congenital hemangioma A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion tmpak2llvmy_mondo_relaxed.owl PICH Orphanet:458785|ICD10:D18.0 owl:Class MONDO:0018715 biolink:NamedThing congenital hemangioma A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). tmpak2llvmy_mondo_relaxed.owl congenital angioma|congenital hemangioma Orphanet:458775|UMLS:C0235753|NCIT:C3841|SCTID:32361000119104 Editor note: this is distinct from inflantile hemangioma owl:Class MONDO:0022768 biolink:NamedThing chronic polyradiculoneuritis tmpak2llvmy_mondo_relaxed.owl GARD:0001355 https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis owl:Class MONDO:0006915 biolink:NamedThing polyradiculoneuropathy Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. tmpak2llvmy_mondo_relaxed.owl UMLS:C0032587|SCTID:128078004|EFO:1001116|DOID:4308|MESH:D011129 owl:Class CL:0000962 biolink:NamedThing Bm2 B cell A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells. tmpak2llvmy_mondo_relaxed.owl Bm2 B-cell|Bm2 B lymphocyte|Bm2 B-lymphocyte These cells are also CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class CL:0000843 biolink:NamedThing follicular B cell A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative. tmpak2llvmy_mondo_relaxed.owl Fo B-cell|follicular B-lymphocyte|Fo B cell|follicular B lymphocyte|follicular B-cell Follicular B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:0002562 biolink:NamedThing demyelinating disease A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. tmpak2llvmy_mondo_relaxed.owl demyelinating disorder DOID:3213|UMLS:C0011303|ICD10:G35.G37|NCIT:C34527|MESH:D003711 owl:Class MONDO:0021147 biolink:NamedThing disorder of development or morphogenesis Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005116 biolink:NamedThing Whipple disease A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl intestinal lipodystrophy|Whipple disease|Tropheryma whipplei caused disease or disorder|secondary non-tropical sprue|Tropheryma whippelii infection|intestinal lipophagic granulomatosis|Whipple's disease|Tropheryma whipplei disease or disorder|Tropheryma whipplei infectious disease ICD9:040.2|MESH:D008061|DOID:8476|ICD10:K90.8+|ICD10:M14.8*|GARD:0007889|SCTID:41545003|UMLS:CN204440|EFO:0000775|UMLS:C0023788|NCIT:C85228|Orphanet:3452|ICD10:K90.81|UMLS:C2930851|MedDRA:10047931 owl:Class UBERON:0000004 biolink:NamedThing nose The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. tmpak2llvmy_mondo_relaxed.owl nasus|olfactory apparatus|peripheral olfactory organ|nasal sac|proboscis|nose owl:Class UBERON:0002268 biolink:NamedThing olfactory organ An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. tmpak2llvmy_mondo_relaxed.owl olfactory neuroepithelium|main olfactory organ|primary olfactory organ|organum olfactorium|olfactory organ|olfactory sense organ|organ olfactus|olfactory sensory organ owl:Class MONDO:0014621 biolink:NamedThing Brugada syndrome 9 Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene. tmpak2llvmy_mondo_relaxed.owl KCND3 Brugada syndrome|Brugada syndrome 9|Brugada syndrome type 9|BRGDA9|Brugada syndrome caused by mutation in KCND3 DOID:0110226|OMIM:616399|UMLS:C4225340|ICD10:I49.8 owl:Class HGNC:21645 biolink:NamedThing CHCHD2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8851 biolink:NamedThing PEX10 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:22868 biolink:NamedThing bile salt A sodium salt of the conjugate of any bile acid with either glycine or taurine. tmpak2llvmy_mondo_relaxed.owl Bile acid|bile salts owl:Class CHEBI:36078 biolink:NamedThing cholanoid tmpak2llvmy_mondo_relaxed.owl cholanoids|bile acids and derivatives owl:Class HGNC:4651 biolink:NamedThing GTF2E2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0034143 biolink:NamedThing early-onset calcifying leukoencephalopathy-skeletal dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:556985 owl:Class MONDO:0017198 biolink:NamedThing osteopetrosis Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. tmpak2llvmy_mondo_relaxed.owl osteopetroses|Albers-Schonberg disease|marble bone disease|osteopetrosis and related disorders|marble bones|Albers-Schoenberg disease|osteopetrosis|osteopetrosis (disease)|osteosclerosis fragilis|marble bone osteopetrosis (disease) MedDRA:10031280|SCTID:1926006|NCIT:C26840|HP:0011002|ICD10:Q78.2|DOID:13533|Orphanet:2781|GARD:0004155|ICD9:756.52 owl:Class UBERON:0010146 biolink:NamedThing paraurethral duct The Skene's ducts are a pair of ducts leading from the Skene's glands to the surface of the vulva, to the left and right of the urethral opening. tmpak2llvmy_mondo_relaxed.owl Skene's duct|female prostate duct|periurethral duct|duct of Skene's gland|duct of paraurethral gland|paraurethral gland duct|ductus paraurethrales urethrae femininae owl:Class MONDO:0021282 biolink:NamedThing malignant teratoma of testis A malignant teratoma that involves the testis. tmpak2llvmy_mondo_relaxed.owl malignant testicular teratoma|testicular immature teratoma|testis malignant teratoma|malignant teratoma of the testis|immature teratoma of testis|immature testicular teratoma|immature teratoma of the testis|testicular malignant teratoma NCIT:C6353|SCTID:416769008|UMLS:C1334154|ICD9:186.9 owl:Class MONDO:0003510 biolink:NamedThing malignant testicular germ cell tumor A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl malignant germ cell neoplasm of the testis|testicular cancer (excluding germ cell or trophoblastic cancer)|testicular germ cell cancer|malignant testicular germ cell neoplasm|testicular malignant germ cell cancer|malignant testicular germ cell tumor|malignant germ cell tumor of testis|testicular cancer|malignant germ cell tumor of the testis|malignant germ cell neoplasm of testis|testicular ca. (no germ/tropho.) DOID:5556|ICD9:186.9|UMLS:C0855197|SCTID:713646001|NCIT:C9063 owl:Class UBERON:0012239 biolink:NamedThing urinary bladder vasculature network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys[MP] tmpak2llvmy_mondo_relaxed.owl set of urinary bladder blood vessels|blood vessels of bladder|bladder vasculature|blood vessel of bladder owl:Class UBERON:0003504 biolink:NamedThing respiratory system blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl apparatus respiratorius blood vessel|blood vessel of apparatus respiratorius|blood vessel of respiratory system owl:Class HGNC:10671 biolink:NamedThing SDCCAG8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014864 biolink:NamedThing hypermanganesemia with dystonia 2 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. tmpak2llvmy_mondo_relaxed.owl SLC39A14 hypermanganesemia with dystonia|hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2|hypermanganesemia with dystonia 2; HMNDYT2|HMNDYT2 Orphanet:521406|SCTID:768554008|UMLS:C4310765|DOID:0080537|OMIM:617013 owl:Class UBERON:0003447 biolink:NamedThing digit nerve of manus A nerve that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl digitus manus nerve|terminal segment of free upper limb digit nerve|nerve of digit of hand|nerve of digitus manus|nerve of terminal segment of free upper limb digit|digit of terminal segment of free upper limb nerve|nerve of hand digit|finger nerve|nerve of digit of terminal segment of free upper limb|digit of hand nerve|hand digit nerve|nerve of finger owl:Class UBERON:0003448 biolink:NamedThing manus nerve A nerve that is part of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of hand|nerve of manus|hand nerve owl:Class UBERON:0018673 biolink:NamedThing neck of fibula tmpak2llvmy_mondo_relaxed.owl fibular neck|fibula neck owl:Class UBERON:0004495 biolink:NamedThing skeletal muscle tissue of diaphragm A portion of skeletal muscle tissue that is part of a diaphragm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004830 biolink:NamedThing respiratory system skeletal muscle A portion of skeletal muscle tissue that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl respiratory system skeletal muscle tissue|skeletal muscle of respiratory system|skeletal muscle of apparatus respiratorius|skeletal muscle tissue of respiratory system|skeletal muscle tissue of apparatus respiratorius owl:Class MONDO:0012637 biolink:NamedThing COG1-CDG COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl CDG syndrome type IIg|CDG 2G|congenital disorder of glycosylation type 2g|CDG2G|CDG-IIg|CDG IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome|carbohydrate deficient glycoprotein syndrome type IIg|congenital disorder of glycosylation type IIg|congenital disorder of glycosylation, type IIg|COG1-CDG|COG1-CDG (CDG-IIg) OMIM:611209|ICD10:E77.8|DOID:0070259|Orphanet:263508|SCTID:718750004|MESH:C535756|GARD:0010226 owl:Class MONDO:0017381 biolink:NamedThing congenital herpes simplex virus infection Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. tmpak2llvmy_mondo_relaxed.owl congenital herpes simplex infection|congenital herpes simplex|Simplexvirus infectious embryofetopathy|neonatal HSV infection|Simplexvirus caused infectious embryofetopathy|antenatal herpes simplex virus infection|neonatal herpes simplex|mother-to-child transmission of herpes simplex virus infection|neonatal herpes simplex virus infection GARD:0007173|ICD9:771.2|ICD10:P35.2|SCTID:91576008|GARD:0001486|Orphanet:293|UMLS:C0276225 MONDO:0022267 https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex owl:Class MONDO:0004609 biolink:NamedThing herpes simplex infectious disease A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) tmpak2llvmy_mondo_relaxed.owl Simplexvirus infectious disease|herpes simplex complex|herpes simplex infection|Herpesvirus hominis disease|herpes simplex viral infection|Simplexvirus disease or disorder|Simplexvirus caused disease or disorder|herpes simplex ICD10:B00.9|EFO:1002022|SCTID:88594005|MESH:D006561|ICD9:054|ICD10:B00|DOID:8566|UMLS:C0019348|ICD9:058.89 owl:Class MONDO:0021386 biolink:NamedThing neoplasm of mediastinum A neoplasm (disease) that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinum neoplasm (disease)|mediastinum tumor|tumor of mediastinum|mediastinal tumor|neoplasm of mediastinum|mediastinum neoplasm|neoplasm of the mediastinum|mediastinal neoplasm|tumor of the mediastinum NCIT:C3221|SCTID:126725000|ICD9:239.89 owl:Class GO:0043086 biolink:NamedThing negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl down regulation of enzyme activity|negative regulation of metalloenzyme activity|downregulation of enzyme activity|negative regulation of enzyme activity|inhibition of enzyme activity|down regulation of metalloenzyme activity|down-regulation of metalloenzyme activity|inhibition of metalloenzyme activity|down-regulation of enzyme activity|downregulation of metalloenzyme activity owl:Class MONDO:0005580 biolink:NamedThing esophageal squamous cell carcinoma Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. tmpak2llvmy_mondo_relaxed.owl esophagus squamous cell carcinoma|esophageal epidermoid carcinoma|squamous cell car. - esophagus|ESCC|esophageal squamous cell cancer|scc of the esophagus|esophagus scc|esophageal scc|scc of esophagus|esophageal squamous cell carcinoma|squamous cell carcinoma of esophagus|squamous cell carcinoma of the esophagus ICD10:C15.3|ICD10:C15.1|MESH:C562729|ICD10:C15.0|UMLS:C0279626|ICD10:C15.4|NCIT:C4024|EFO:0005922|SCTID:276804009|ONCOTREE:ESCC|DOID:3748|Orphanet:99977 owl:Class CHEBI:35507 biolink:NamedThing natural product fundamental parent tmpak2llvmy_mondo_relaxed.owl natural product fundamental parents owl:Class CHEBI:33245 biolink:NamedThing organic fundamental parent An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. tmpak2llvmy_mondo_relaxed.owl organic fundamental parents|organic parent hydrides owl:Class GO:0022610 biolink:NamedThing biological adhesion The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009383 biolink:NamedThing transient familial neonatal hyperbilirubinemia tmpak2llvmy_mondo_relaxed.owl hyperbilirubinemia transient familial neonatal|breast milk jaundice|Lucey-Driscoll syndrome|HBLRTFN|transient familial hyperbilirubinemia|hyperbilirubinemia, transient familial neonatal OMIM:237900|GARD:0002791|GARD:0003304|UMLS:C0270210|ICD10:P59.8|Orphanet:2312|MESH:C562692 https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal owl:Class MONDO:0002408 biolink:NamedThing hereditary hyperbilirubinemia An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. tmpak2llvmy_mondo_relaxed.owl hyperbilirubinaemia|hereditary hyperbilirubinemia|hyperbilirubinemia|bilirubin metabolic disorder MESH:D006933|UMLS:C0020435|DOID:2741|NCIT:C84761|OMIMPS:237450 owl:Class UBERON:0008835 biolink:NamedThing hepatic diverticulum An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl diverticulum hepaticum|liver diverticulum owl:Class UBERON:0034670 biolink:NamedThing palatal taste bud A taste bud that is located on the soft palate, in the roof of the mouth. tmpak2llvmy_mondo_relaxed.owl taste bud of palate owl:Class GO:0001957 biolink:NamedThing intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells. tmpak2llvmy_mondo_relaxed.owl intramembranous bone ossification|dermal ossification owl:Class GO:0036072 biolink:NamedThing direct ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043079 biolink:NamedThing acute articular rheumatism tmpak2llvmy_mondo_relaxed.owl acute rheumatic arthritis|acute articular rheumatism|acute rheumatism GARD:0000518|SCTID:81077008 owl:Class MONDO:0005578 biolink:NamedThing arthritic joint disease An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. tmpak2llvmy_mondo_relaxed.owl arthritis|inflammatory disorder of joint|inflammation of skeletal joint|skeletal joint inflammation SCTID:3723001|MESH:D001168|DOID:848|EFO:0005856|NCIT:C2883|ICD10:M19.90|Wikipedia:Arthritis|UMLS:C0003864 Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. owl:Class MONDO:0014449 biolink:NamedThing congenital analbuminemia Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). tmpak2llvmy_mondo_relaxed.owl ANALBA|analbuminemia GARD:0013056|SCTID:718721006|OMIM:616000|UMLS:C4305253|NCIT:C124851|ICD10:R77.0|Orphanet:86816 https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia owl:Class MONDO:0011822 biolink:NamedThing Bartter disease type 3 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpak2llvmy_mondo_relaxed.owl Bartter syndrome, type 3, with hypocalciuria|classic Bartter syndrome|Bartter syndrome, type 3|Bartter syndrome, classic|adult Bartter syndrome|Bartter disease type 3|Bartter syndrome type III|Bartter syndrome type 3|BARTS3|Bartter syndrome classic DOID:0110144|SCTID:700111000|ICD10:E26.8|Orphanet:93605|OMIM:607364|GARD:0009659|UMLS:C1846343 owl:Class MONDO:0015231 biolink:NamedThing Bartter syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpak2llvmy_mondo_relaxed.owl hypokalemic alkalosis with hypercalciuria|salt-wasting tubulopathy, Henle's loop type|Bartter disease|Potassium wasting|renal tubular normotensive hypokalemic alkalosis with hypercalciuria|salt-losing tubular disorder, Henle's loop type|Bartter's syndrome|hypokalemic alkalosis|aldosteronism with hyperplasia of the adrenal cortex DOID:445|NCIT:C34412|MedDRA:10050839|UMLS:C0085570|ICD9:255.13|UMLS:C0004775|Orphanet:112|ICD10:E26.81|SCTID:707742001|MESH:D001477|GARD:0005893|ICD10:E26.8|OMIMPS:601678 https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome owl:Class MONDO:0016722 biolink:NamedThing pineoblastoma Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. tmpak2llvmy_mondo_relaxed.owl primitive neuroectodermal neoplasm of pineal gland|pineoblastoma|pineoblastoma, malignant|pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the pineal gland|PNET of pineal gland|pineal primitive neuroectodermal neoplasm|pineal gland PNET|pineoblastoma (WHO grade IV)|pineal PNET|PNET of the pineal gland|primitive neuroectodermal tumor of pineal gland|pineal gland primitive neuroectodermal tumor|primitive neuroectodermal tumor of the pineal gland|pineal primitive neuroectodermal tumor NCIT:C9344|ICDO:9362/3|DOID:1664|ICD10:C75.3|Orphanet:251909|GARD:0009369|MedDRA:10050487|UMLS:C0205898|ONCOTREE:PBL|EFO:1000475 https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma owl:Class GO:0090325 biolink:NamedThing regulation of locomotion involved in locomotory behavior Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004720 biolink:NamedThing variola minor infection A orthopoxvirus that causes a milder clinical syndrome than smallpox. tmpak2llvmy_mondo_relaxed.owl cottonpox|Variola minor|milkpox|alastrim|whitepox DOID:9153|SCTID:72294005|NCIT:C34365|ICD9:050.1|UMLS:C0001906 owl:Class MONDO:0004651 biolink:NamedThing smallpox A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. tmpak2llvmy_mondo_relaxed.owl Variola|smallpox virus infection|variola virus infection|Variola virus caused disease or disorder|Variola virus infectious disease|Variola virus disease or disorder|ordinary smallpox|variola virus VAR infection UMLS:C0037354|NCIT:C35027|ICD9:050.9|GARD:0007444|ICD9:050|DOID:8736|MESH:D012899|ICD10:B03|SCTID:67924001 https://rarediseases.info.nih.gov/diseases/7444/smallpox owl:Class UBERON:0005171 biolink:NamedThing hepatic duct Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070857 biolink:NamedThing regulation of bile acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpak2llvmy_mondo_relaxed.owl regulation of bile acid biosynthesis|regulation of bile acid synthesis|regulation of bile acid formation|regulation of bile acid anabolism owl:Class GO:1904251 biolink:NamedThing regulation of bile acid metabolic process Any process that modulates the frequency, rate or extent of bile acid metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of bile acid metabolism owl:Class HGNC:12513 biolink:NamedThing UCHL1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:29989 biolink:NamedThing D-glutamate(2-) tmpak2llvmy_mondo_relaxed.owl D-glutamate(2-)|D-glutamate|(2R)-2-aminopentanedioate|D-glutamic acid dianion owl:Class CHEBI:29987 biolink:NamedThing glutamate(2-) A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). tmpak2llvmy_mondo_relaxed.owl glutamate|glutamic acid dianion|glutamate(2-)|2-aminopentanedioate owl:Class GO:0045727 biolink:NamedThing positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpak2llvmy_mondo_relaxed.owl stimulation of protein biosynthetic process|positive regulation of protein synthesis|positive regulation of protein anabolism|upregulation of protein biosynthetic process|positive regulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein biosynthesis|up-regulation of protein biosynthetic process|positive regulation of protein formation|up regulation of protein biosynthetic process owl:Class MONDO:0010238 biolink:NamedThing deafness, X-linked 4 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene. tmpak2llvmy_mondo_relaxed.owl deafness, X-linked 4|SMPX X-linked nonsyndromic deafness|deafness, X-linked 6, progressive|deafness, X-linked type 4|X-linked nonsyndromic deafness caused by mutation in SMPX|DFNX4|deafness, nonsyndromic sensorineural progressive 6 OMIM:300066|DOID:0111735|UMLS:C1848204|MESH:C564723 owl:Class UBERON:0013503 biolink:NamedThing caudal vertebra cartilage element A caudal vertebra endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl coccygeal vertebra cartilage element|coccygeal vertebral cartilage condensation group|tail vertebral cartilage condensation owl:Class UBERON:0018142 biolink:NamedThing caudal vertebra endochondral element Any vertebra endochondral element that is part of the caudal region of the vertebral column (tail or coccyx). tmpak2llvmy_mondo_relaxed.owl tail vertebra element|coccyx vertebra element|caudal vertebra element|coccygeal vertebra element owl:Class HP:0010766 biolink:NamedThing Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. tmpak2llvmy_mondo_relaxed.owl UMLS:C3806226 doelkens 2010-04-27T09:52:59Z human_phenotype owl:Class HP:0000924 biolink:NamedThing Abnormality of the skeletal system An abnormality of the skeletal system. tmpak2llvmy_mondo_relaxed.owl Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system UMLS:C4021790 human_phenotype owl:Class HP:0001268 biolink:NamedThing Mental deterioration Loss of previously present mental abilities, generally in adults. tmpak2llvmy_mondo_relaxed.owl Cognitive decline, progressive|Mental deterioration|Progressive cognitive decline|Cognitive decline|Intellectual deterioration MSH:D060825|UMLS:C0234985 HP:0007253|HP:0007264|HP:0007155|HP:0006822|HP:0007298|HP:0002303 human_phenotype owl:Class HP:0100543 biolink:NamedThing Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. tmpak2llvmy_mondo_relaxed.owl Cognitive impairment|Intellectual impairment|Cognitive deficits|Cognitive defects|Cognitive abnormality|Abnormality of cognition UMLS:C0338656|MSH:D060825|SNOMEDCT_US:386806002|UMLS:C0683322 An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. doelkens 2010-12-20T06:50:32Z HP:0006972|HP:0002302|HP:0006998|HP:0007211|HP:0002441|HP:0002128|HP:0002129|HP:0002337 human_phenotype owl:Class UBERON:0003576 biolink:NamedThing hip connective tissue A portion of connective tissue that is part of a hip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of hip region|connective tissue of regio coxae|connective tissue of hip owl:Class HGNC:26559 biolink:NamedThing ZFYVE27 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008615 biolink:NamedThing tune deafness tmpak2llvmy_mondo_relaxed.owl tune deafness|amusia, congenital|Dysmelodia|tone deafness MESH:C566019|SCTID:55647004|UMLS:C1860646|OMIM:191200|ICD9:389.8 owl:Class GO:2000083 biolink:NamedThing negative regulation of L-ascorbic acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of L-ascorbic acid biosynthesis|negative regulation of ascorbate biosynthetic process|negative regulation of vitamin C biosynthetic process|negative regulation of L-ascorbic acid synthesis|negative regulation of vitamin C biosynthesis|negative regulation of L-ascorbic acid formation|negative regulation of ascorbate biosynthesis|negative regulation of L-ascorbic acid anabolism owl:Class GO:0046137 biolink:NamedThing negative regulation of vitamin metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|downregulation of vitamin metabolic process|inhibition of vitamin metabolic process|down regulation of vitamin metabolic process owl:Class MONDO:0000970 biolink:NamedThing breast lipoma A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. tmpak2llvmy_mondo_relaxed.owl breast lipoma|lipoma of the breast|lipoma of breast NCIT:C4647|UMLS:C0349565|ICD9:214.1|DOID:10199|SCTID:276891009 owl:Class UBERON:0004089 biolink:NamedThing midface The middle of the face including the nose and its associated bony structures[MW]. tmpak2llvmy_mondo_relaxed.owl lower face|snout|midface/lower face owl:Class UBERON:0001444 biolink:NamedThing subdivision of head tmpak2llvmy_mondo_relaxed.owl head region|region of head|head subdivision owl:Class HGNC:9475 biolink:NamedThing PRSS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004275 biolink:NamedThing osteosarcoma arising in bone Paget disease A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. tmpak2llvmy_mondo_relaxed.owl Paget's osteosarcoma|osteosarcoma arising in bone Paget disease|Paget osteosarcoma|osteosarcoma arising in osteitis deformans|osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in bone Paget's disease|osteosarcoma arising in osseous Paget's disease DOID:7542|UMLS:C1335148|ICDO:9184/3|NCIT:C6469 owl:Class MONDO:0025420 biolink:NamedThing gastroenteritis, transmissible, of swine A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. tmpak2llvmy_mondo_relaxed.owl swine transmissible Gastroenteritides|transmissible Gastroenteritides, swine|porcine transmissible gastroenteritis|transmissible gastroenteritis, swine|gastroenteritis, swine transmissible|transmissible gastroenteritis of swine|Gastroenteritides, porcine transmissible|Gastroenteritides, transmissible porcine|Gastroenteritides, swine transmissible|transmissible gastroenteritis, porcine|porcine transmissible Gastroenteritides|transmissible Gastroenteritides, porcine|gastroenteritis, transmissible, porcine|swine transmissible gastroenteritis|porcine Gastroenteritides, transmissible|porcine gastroenteritis, transmissible|transmissible porcine gastroenteritis|transmissible porcine Gastroenteritides|gastroenteritis, transmissible porcine|gastroenteritis, porcine transmissible UMLS:C0017162|MESH:D005761 owl:Class UBERON:0001894 biolink:NamedThing diencephalon The division of the forebrain that develops from the foremost primary cerebral vesicle. tmpak2llvmy_mondo_relaxed.owl mature diencephalon|thalamencephalon|diencephalon|DiE|betweenbrain|between brain|interbrain owl:Class UBERON:0002616 biolink:NamedThing regional part of brain Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. tmpak2llvmy_mondo_relaxed.owl anatomical structure of brain|segment of brain|brain anatomical structure|brain biological structure|neuroanatomical region|brain part|biological structure of brain|neuraxis segment owl:Class MONDO:0020585 biolink:NamedThing anemia due to erythrocyte enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. tmpak2llvmy_mondo_relaxed.owl anemia due to erythrocyte enzyme disorder UMLS:C4329304|NCIT:C131630 owl:Class FOODON:00001015 biolink:NamedThing plant food product This class includes food products which are derived from or produced by a plant. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00002381 biolink:NamedThing food product by organism A food product consisting of food material derived primarily from a single organism. tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0005954 biolink:NamedThing screw worm infectious disease Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. tmpak2llvmy_mondo_relaxed.owl infections, screw worm|infection, screw worm|screw worm infections|Cochliomyia hominivorax caused disease or disorder|Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease MESH:D012610|DOID:12927|EFO:0007479 owl:Class UBERON:0006526 biolink:NamedThing right lung alveolar system tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010909 biolink:NamedThing UV-sensitive syndrome 1 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpak2llvmy_mondo_relaxed.owl UV-sensitive syndrome 1|UV-sensitive syndrome caused by mutation in ERCC6|UV-sensitive syndrome type 1|ERCC6 UV-sensitive syndrome|UVSS1 OMIM:600630|UMLS:C3551173 owl:Class MONDO:0015797 biolink:NamedThing UV-sensitive syndrome UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. tmpak2llvmy_mondo_relaxed.owl UV sensitive syndrome|UVSS SCTID:698253007|OMIMPS:600630|Orphanet:178338|GARD:0010947|DOID:0060240|ICD9:702.8|MESH:C563466 https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome owl:Class MONDO:0021402 biolink:NamedThing polyp of external auditory canal A polyp that involves the external acoustic meatus. tmpak2llvmy_mondo_relaxed.owl polyp of the external auditory canal|external Ear polyp|external acoustic meatus polyp|external auditory canal polyp NCIT:C4366|SCTID:95211004|UMLS:C0339765 owl:Class MONDO:0021235 biolink:NamedThing external ear neoplasm A neoplasm (disease) that involves the external ear. tmpak2llvmy_mondo_relaxed.owl neoplasm of external Ear|external Ear tumor|external ear neoplasm (disease)|neoplasm of the external Ear|tumor of external Ear|external ear tumor|tumor of external ear|tumor of the external Ear|neoplasm of external ear SCTID:277155005|UMLS:C0349575|NCIT:C4652 owl:Class HGNC:469 biolink:NamedThing AMPD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024546 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. tmpak2llvmy_mondo_relaxed.owl Cranioosteoarthropathy|Pho, autosomal recessive|Currarino idiopathic osteoarthropathy|familial idiopathic osteoarthropathy of childhood|primary hypertrophic osteoarthropathy caused by mutation in HPGD|PDP, autosomal recessive|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|pachydermoperiostosis, autosomal recessive|HPGD primary hypertrophic osteoarthropathy|Touraine-Solente-Gole syndrome|PHOAR1 OMIM:259100 owl:Class MONDO:0009799 biolink:NamedThing pachydermoperiostosis tmpak2llvmy_mondo_relaxed.owl Touraine-Solente-Gole syndrome|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Touraine Solente Gole syndrome|PDP|PHOAR1 2021-01-01 GARD:0007299|SCTID:88220006|UMLS:CN202658|ICD10:M89.4|Orphanet:2796|MedDRA:10051686 Reason: duplicate. This will be merged with MONDO:0016620 primary hypertrophic osteoarthropathy owl:Class NCBITaxon:83136 biolink:NamedThing Trombidiformes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6946 biolink:NamedThing Acariformes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005114 biolink:NamedThing pneumococcal infection Infections with bacteria of the species streptococcus pneumoniae. tmpak2llvmy_mondo_relaxed.owl Streptococcus pneumoniae infectious disease|infections, pneumococcal|Streptococcus pneumoniae disease or disorder|infection, pneumococcal|Streptococcus pneumoniae caused disease or disorder|pneumoniae infection, Streptococcus|infections, Streptococcus pneumoniae|infection, Streptococcus pneumoniae|pneumococcal infection|Streptococcus pneumoniae infection|Streptococcus pneumoniae infections|pneumoniae infections, Streptococcus SCTID:16814004|ICD9:041.2|UMLS:C0032269|MESH:D011008|EFO:0000772 owl:Class GO:0009107 biolink:NamedThing lipoate biosynthetic process The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpak2llvmy_mondo_relaxed.owl lipoate synthesis|lipoic acid biosynthetic process|lipoic acid synthesis|lipoic acid biosynthesis|lipoate anabolism|lipoic acid anabolism|lipoate biosynthesis|lipoate formation|lipoic acid formation owl:Class GO:0006633 biolink:NamedThing fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. tmpak2llvmy_mondo_relaxed.owl fatty acid formation|fatty acid synthesis|fatty acid anabolism|fatty acid biosynthesis owl:Class MONDO:0007989 biolink:NamedThing congenital microcoria Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. tmpak2llvmy_mondo_relaxed.owl congenital miosis|miosis, congenital|microcoria, congenital|Mcor|chromosome 13Q32 deletion syndrome|pinhole pupils GARD:0003635|Orphanet:566|MESH:C537550|SCTID:400962005|OMIM:156600 https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital owl:Class MONDO:0011119 biolink:NamedThing iridogoniodysgenesis tmpak2llvmy_mondo_relaxed.owl IRID Orphanet:98634|DOID:0050786 Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 owl:Class MONDO:0013456 biolink:NamedThing constitutional megaloblastic anemia with severe neurologic disease tmpak2llvmy_mondo_relaxed.owl megaloblastic anemia due to dihydrofolate reductase deficiency|DHFR deficiency|dihydrofolate reductase deficiency ICD10:D52.8|Orphanet:319651|MESH:C565095|GARD:0011000|OMIM:613839|SCTID:124178006 owl:Class MONDO:0019213 biolink:NamedThing cerebral organic aciduria A inherited organic acidemia that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain inherited organic acidemia|inherited organic acidemia of brain Orphanet:79158 owl:Class MONDO:0016515 biolink:NamedThing Kallmann syndrome-heart disease syndrome Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.8|Orphanet:2326|UMLS:CN201538 owl:Class GO:0009124 biolink:NamedThing nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside monophosphate biosynthesis|nucleoside monophosphate formation|nucleoside monophosphate anabolism|nucleoside monophosphate synthesis owl:Class GO:0009123 biolink:NamedThing nucleoside monophosphate metabolic process The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside monophosphate metabolism owl:Class UBERON:0010025 biolink:NamedThing dorsal part of pharyngeal pouch 3 tmpak2llvmy_mondo_relaxed.owl dorsal pharyngeal pouch 3|dorsal 3rd branchial pouch|dorsal branchial pouch 3 endoderm|dorsal wing of pharyngeal pouch 3|dorsal 3rd arch pharyngeal pouch endoderm|cranial dorsal aspect of third dorsal pharyngeal pouch|dorsal pharyngeal pouch 3 endoderm owl:Class MONDO:0013439 biolink:NamedThing congenital bile acid synthesis defect 3 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. tmpak2llvmy_mondo_relaxed.owl BASD3|congenital bile acid synthesis defect type 3|oxysterol 7-alpha-hydroxylase deficiency|bile acid synthesis defect, congenital, type 3|CYP7B1 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in CYP7B1|bile acid synthesis defect, congenital, 3|CBAS3 UMLS:C3151147|ICD10:K76.8|UMLS:C4304715|DOID:0111070|MESH:C566340|OMIM:613812|Orphanet:79302|SCTID:719454003 owl:Class MONDO:0018841 biolink:NamedThing congenital bile acid synthesis defect tmpak2llvmy_mondo_relaxed.owl cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|CBA|bile acid synthesis defect, congenital|BASD OMIMPS:607765|DOID:0050674|UMLS:CN239183|EFO:0009039|ICD10:K76.8|Orphanet:485631 owl:Class UBERON:0001978 biolink:NamedThing parenchyma of pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic parenchyma|pancreas parenchyma owl:Class NCBITaxon:241806 biolink:NamedThing Polypodiopsida tmpak2llvmy_mondo_relaxed.owl ferns|Moniliformopses|Filicopsida GC_ID:1|PMID:21652310 NCBITaxon:1204415|NCBITaxon:3263|NCBITaxon:3290 ncbi_taxonomy owl:Class NCBITaxon:78536 biolink:NamedThing Euphyllophyta tmpak2llvmy_mondo_relaxed.owl euphyllophytes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100146 biolink:NamedThing ATP6AP2-related disorder Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. tmpak2llvmy_mondo_relaxed.owl ATP6AP2-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016579 biolink:NamedThing dominant hypophosphatemia with nephrolithiasis or osteoporosis tmpak2llvmy_mondo_relaxed.owl Orphanet:244305|UMLS:CN228623 owl:Class HP:0000272 biolink:NamedThing Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. tmpak2llvmy_mondo_relaxed.owl Depressed malar region|Hypotrophic malar bone|Zygomatic flattening|Decreased size of malar bone|Flat cheekbone|Malar hypoplasia|Underdevelopment of malar bone UMLS:C1858085|UMLS:C4280651 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. HP:0000312|HP:0004642|HP:0000332|HP:0005443|HP:0005319|HP:0004658|HP:0005455|HP:0004671|HP:0100846 human_phenotype owl:Class HP:0012369 biolink:NamedThing Abnormality of malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. tmpak2llvmy_mondo_relaxed.owl Malformation of the malar bones|Anomaly of the malar bones|Deformity of the malar bones|Malar anomaly UMLS:C4022926 The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. peter 2013-10-13T02:37:51Z human_phenotype owl:Class MONDO:0018013 biolink:NamedThing non-immunoglobulin-mediated membranoproliferative glomerulonephritis tmpak2llvmy_mondo_relaxed.owl non-Ig-mediated MPGN|C3 glomerulopathy|non-Ig-mediated membranoproliferative glomerulonephritis|non-immunoglobulin-mediated MPGN Orphanet:329918|ICD10:N00.5 owl:Class MONDO:0018904 biolink:NamedThing primary membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. tmpak2llvmy_mondo_relaxed.owl MPGN|membranoproliferative glomerulonephritis|Mesangiocapillary glomerulonephritis GARD:0011982|UMLS:C0017662|ICD10:N00.5|ICD9:583.2|SCTID:80321008|NCIT:C34644|MedDRA:10018370|Orphanet:54370 owl:Class MONDO:0001871 biolink:NamedThing acute diffuse glomerulonephritis An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. tmpak2llvmy_mondo_relaxed.owl acute diffuse nephritis|diffuse glomerulonephritis, acute|acute diffuse glomerulonephritis SCTID:197585004|NCIT:C35587|DOID:14066|UMLS:C0341689 owl:Class NCBITaxon:43075 biolink:NamedThing Trichomonas tenax tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013241 biolink:NamedThing embryonic urethral groove The precursor of the urethra tmpak2llvmy_mondo_relaxed.owl urethral groove|sulcus urethralis primarius|urethral sulcus owl:Class MONDO:0011411 biolink:NamedThing Chudley-McCullough syndrome tmpak2llvmy_mondo_relaxed.owl CMCS|deafness, autosomal recessive 82|deafness, autosomal recessive 82, formerly|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|Chudley-McCullough syndrome Orphanet:314597|GARD:0000086|UMLS:C1858695|MESH:C535459|OMIM:604213 owl:Class MONDO:0020817 biolink:NamedThing miliaria vesiculosa tmpak2llvmy_mondo_relaxed.owl SCTID:201195008 owl:Class MONDO:0006580 biolink:NamedThing miliaria A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. tmpak2llvmy_mondo_relaxed.owl heat rash|prickly heat Wikipedia:Miliaria|MESH:D008883|EFO:1000734|DOID:1382|SCTID:63951004|NCIT:C34820|ICD10:L74.3|UMLS:C0026113 owl:Class GO:0009074 biolink:NamedThing aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpak2llvmy_mondo_relaxed.owl aromatic amino acid family catabolism|aromatic amino acid family breakdown|aromatic amino acid family degradation owl:Class MONDO:0014742 biolink:NamedThing Parkinson disease 22, autosomal dominant Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. tmpak2llvmy_mondo_relaxed.owl CHCHD2 Parkinson disease|PARK22|Parkinson disease 22, autosomal dominant; PARK22|Parkinson disease 22, autosomal dominant|Parkinson disease caused by mutation in CHCHD2 UMLS:C4225238|DOID:0080504|OMIM:616710 owl:Class MONDO:0005180 biolink:NamedThing Parkinson disease A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. tmpak2llvmy_mondo_relaxed.owl Parkinson disease|Parkinson's disease|paralysis agitans KEGG:05012|SCTID:49049000|ICD9:332.0|OMIMPS:168600|MESH:D010300|ICD9:332|UMLS:C0030567|NIFSTD:birnlex_2098|DOID:14330|ICD10:G20|EFO:0002508|NCIT:C26845 owl:Class UBERON:0006242 biolink:NamedThing gall bladder primordium A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000642 biolink:NamedThing folliculostellate cell A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000163 biolink:NamedThing endocrine cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. tmpak2llvmy_mondo_relaxed.owl endocrinocyte FMA:83809 cell owl:Class MONDO:0017219 biolink:NamedThing microform holoprosencephaly Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. tmpak2llvmy_mondo_relaxed.owl Microform HPE|HoloprosencC)phalie, minor form|HPE, minor form|Holoprosencéphalie, minor form|holoprosencephaly-like|HPE-L Orphanet:280200|UMLS:CN236719|UMLS:CN202701|DOID:0111380|ICD10:Q04.2 owl:Class MONDO:0003249 biolink:NamedThing pineal gland cancer Abnormal malignant growth of the cells that comprise the pineal parenchyma. tmpak2llvmy_mondo_relaxed.owl tumor of the pineal region|malignant tumor of pineal gland|malignant pineal area tumor|malignant pineal region tumor|malignant pineal region neoplasm|neoplasm of the pineal region|malignant pineal gland tumor|cancer of pineal body|malignant neoplasm of pineal body|malignant pineal gland neoplasm|pineocytic tumor|malignant pineal area neoplasm|malignant neoplasm of pineal gland|pinealoma|malignant pineal body neoplasm|malignant neoplasm of the pineal gland|malignant tumor of the pineal gland|pineal body cancer NCIT:C3573|SCTID:363483004|ICD10:C75.3|ICD9:194.4|DOID:5032 owl:Class MONDO:0008745 biolink:NamedThing oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. tmpak2llvmy_mondo_relaxed.owl albinism 1|oculocutaneous albinism, tyrosinase-negative|albinism, oculocutaneous, type 1A|oculocutaneous albinism type IA|albinism, oculocutaneous, type IA|tyrosinase-negative oculocutaneous albinism|OCA1A|oculocutaneous albinism, type 1|oculocutaneous albinism caused by mutation in TYR|TYR oculocutaneous albinism|oculocutaneous albinism caused by mutation in Tyr|Tyr oculocutaneous albinism ICD9:270.2|SCTID:6483008|ICD10:E70.3|Orphanet:79431|OMIM:203100|DOID:0070094 owl:Class MONDO:0040653 biolink:NamedThing autosomal recessive ocular albinism Autosomal recessive form of ocular albinism (disease). tmpak2llvmy_mondo_relaxed.owl AROA|autosomal recessive ocular albinism|ocular albinism (disease), autosomal recessive|autosomal recessive ocular albinism (disease) SCTID:78921008 owl:Class MONDO:0017795 biolink:NamedThing ameloblastoma The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. tmpak2llvmy_mondo_relaxed.owl aot|Adenoameloblastoma|ameloblastoma|adenomatoid odontogenic tumor|adamantinoma|ameloblastoma of jaw SCTID:285311001|MESH:D000564|UMLS:C0002448|MedDRA:10066796|UMLS:C0563212|DOID:0050894|GARD:0005747|Orphanet:314419|ICDO:9310/0|NCIT:C4313|ICD10:C41.1 owl:Class MONDO:0000636 biolink:NamedThing musculoskeletal system benign neoplasm A benign neoplasm that involves the musculoskeletal system. tmpak2llvmy_mondo_relaxed.owl musculoskeletal system benign neoplasm DOID:0060099 owl:Class MONDO:0011185 biolink:NamedThing Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy honeycomb shaped|anterior limiting membrane dystrophy type 2|Thiel-Behnke corneal dystrophy|corneal dystrophy, honeycomb-Shaped|corneal dystrophy of Bowman Layer, type 2|CDTB|honeycomb corneal dystrophy|curly fiber corneal dystrophy|Thiel Behnke corneal dystrophy|corneal dystrophy of the Bowman layer type 2|corneal dystrophy Thiel Behnke type|TBCD|anterior limiting membrane dystrophy type II|corneal dystrophy of Bowman layer type 2|Waardenburg-Jonker corneal dystrophy|corneal dystrophy honeycomb-shaped|corneal dystrophy of Bowman layer type II|corneal dystrophy, Thiel-Behnke type|CDB2 OMIM:602082|ICD9:371.52|Orphanet:98960|MESH:C535942|SCTID:417065002|GARD:0009275|UMLS:C1562894|ICD10:H18.5|DOID:0060455 https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type owl:Class MONDO:0017919 biolink:NamedThing bladder exstrophy-epispadias-cloacal exstrophy complex A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. tmpak2llvmy_mondo_relaxed.owl bladder exstrophy-epispadias-cloacal extrophy complex|EEC|BEEC|exstrophy-epispadias complex GARD:0002207|Orphanet:322|UMLS:C1838703|DOID:0080173|ICD10:Q64.1 owl:Class MONDO:0014342 biolink:NamedThing female infertility due to zona pellucida defect Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. tmpak2llvmy_mondo_relaxed.owl OOMD1|oocyte maturation defect|oocyte maturation defect 1|OOMD UMLS:C4014291|ICD10:N97.8|OMIM:615774|Orphanet:404466 owl:Class MONDO:0018444 biolink:NamedThing female infertility due to fertilization defect tmpak2llvmy_mondo_relaxed.owl rare female infertility due to oocyte maturation|rare female infertility due to oocyte maturation defect|female infertility due to fecundation defect 2022-03-01 ICD10:N97.8|Orphanet:404469 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0032615 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 9 tmpak2llvmy_mondo_relaxed.owl MC1DN9|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 OMIM:618232 owl:Class MONDO:0007781 biolink:NamedThing essential hypertension, genetic An instance of essential hypertension that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl Eht|genetic essential hypertension|hypertension, essential OMIM:145500 owl:Class MONDO:0001134 biolink:NamedThing essential hypertension Hypertension that presents without an identifiable cause. tmpak2llvmy_mondo_relaxed.owl primary hypertension|idiopathic hypertension ICD9:401|UMLS:C0085580|ICD9:401.9|MESH:C562386|EFO:1002032|SCTID:59621000|ICD10:I10|DOID:10825 owl:Class MONDO:0026768 biolink:NamedThing warfarin sensitivity, X-linked tmpak2llvmy_mondo_relaxed.owl WARFARIN SENSITIVITY, X-LINKED|Coumarin Sensitivity, X-Linked OMIM:301052 owl:Class MONDO:0030008 biolink:NamedThing combined oxidative phosphorylation deficiency 42 tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 42|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42|COXPD42 OMIM:618839 owl:Class UBERON:0012313 biolink:NamedThing 1st arch maxillary ectoderm tmpak2llvmy_mondo_relaxed.owl ectoderm of maxillary component owl:Class MONDO:0016620 biolink:NamedThing primary hypertrophic osteoarthropathy Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. tmpak2llvmy_mondo_relaxed.owl pachydermoperiostosis of nail|hypertrophic osteoarthropathy, primary|hypertropic osteoarthropathy, primary|pachydermoperiostosis syndrome|idiopathic hypertrophic osteoarthropathy|pachydermoperiostosis of nail [ambiguous]|PHO ICD10:M89.4|OMIMPS:259100|MESH:D010004|Orphanet:248095|DOID:14283|UMLS:C0029411|NCIT:C85023 owl:Class GO:0050907 biolink:NamedThing detection of chemical stimulus involved in sensory perception The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception. tmpak2llvmy_mondo_relaxed.owl sensory detection of chemical stimulus during sensory perception|sensory transduction of chemical stimulus|sensory detection of chemical stimulus|sensory perception, sensory transduction of chemical stimulus|sensory perception, sensory detection of chemical stimulus|sensory transduction of chemical stimulus during sensory perception owl:Class ENVO:09000014 biolink:NamedThing amount of nitrogen atom in soil The amount of a nitrogen atom when measured in soil. tmpak2llvmy_mondo_relaxed.owl soil nitrogen atom amount owl:Class ENVO:09000013 biolink:NamedThing amount of nitrogen atom in environmental material The amount of a nitrogen atom when measured in environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material nitrogen atom amount owl:Class UBERON:0004768 biolink:NamedThing bone of lower jaw Any bone that is part of the lower jaw skeleton. This includes (when present): the dentary/mandible, the articular, the splenial, the suprangular tmpak2llvmy_mondo_relaxed.owl lower jaw bone owl:Class UBERON:0012360 biolink:NamedThing bone of jaw A bone element that is part of a jaw region. tmpak2llvmy_mondo_relaxed.owl jaw bone owl:Class MONDO:0007833 biolink:NamedThing iris pigment layer, cleavage of tmpak2llvmy_mondo_relaxed.owl iris pigment layer, cleavage of OMIM:147610 owl:Class NCBITaxon:186540 biolink:NamedThing Sudan ebolavirus tmpak2llvmy_mondo_relaxed.owl Ebolavirus Sudan|SEBOV|Sudan Ebola virus|SUDV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186536 biolink:NamedThing Ebolavirus tmpak2llvmy_mondo_relaxed.owl Ebola-like viruses GC_ID:1 ncbi_taxonomy owl:Class CHEBI:63473 biolink:NamedThing aromatic amino-acid anion An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). tmpak2llvmy_mondo_relaxed.owl aromatic amino-acid anions owl:Class CHEBI:37022 biolink:NamedThing amino-acid anion tmpak2llvmy_mondo_relaxed.owl amino-acid anion|amino acid anions|amino-acid anions owl:Class MONDO:0008362 biolink:NamedThing ragweed sensitivity tmpak2llvmy_mondo_relaxed.owl ragweed sensitivity OMIM:179450|MESH:C566725 owl:Class UBERON:8300001 biolink:NamedThing right forelimb A forelimb that is on the right side of a pectoral complex. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002102 biolink:NamedThing forelimb A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. tmpak2llvmy_mondo_relaxed.owl pectoral limb|forelimb|pectoral flipper|upper limb|fore limb|anteriormost limb|superior member|membrum superius|free part of upper limb|upper extremity|free upper limb|foreleg owl:Class UBERON:0036553 biolink:NamedThing wall of synovial tendon sheath tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015606 biolink:NamedThing Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. tmpak2llvmy_mondo_relaxed.owl Del(X)(p23) Orphanet:1643|GARD:0013170|SCTID:726733007|UMLS:CN199978|ICD10:Q99.8 https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome owl:Class MONDO:0002710 biolink:NamedThing infiltrating angiolipoma An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. tmpak2llvmy_mondo_relaxed.owl angiolipoma, infiltrating|angiolipoma, infiltrating (morphologic abnormality)|infiltrating angiolipoma DOID:3615|NCIT:C7449|UMLS:C1305256 owl:Class MONDO:0004075 biolink:NamedThing infiltrating lipoma A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. tmpak2llvmy_mondo_relaxed.owl intramuscular lipoma|intramuscular lipoma (morphologic abnormality) DOID:7014|UMLS:C0334473|NCIT:C7451 owl:Class HGNC:7876 biolink:NamedThing NOS3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017870 biolink:NamedThing supravalvular pulmonary stenosis tmpak2llvmy_mondo_relaxed.owl pulmonary supravalvular stenosis ICD10:Q25.6|GARD:0004594|Orphanet:3192 https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis owl:Class MONDO:0017865 biolink:NamedThing congenital pulmonary valve stenosis Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS). tmpak2llvmy_mondo_relaxed.owl valvate pulmonary stenosis|heart valve pulmonary stenosis|valvular pulmonary stenosis|valvar pulmonary stenosis MedDRA:10037451|GARD:0004596|Orphanet:3189|ICD10:Q22.1 owl:Class HGNC:7997 biolink:NamedThing NRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001279 biolink:NamedThing portal triad A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel tmpak2llvmy_mondo_relaxed.owl trias hepatica owl:Class MONDO:0004199 biolink:NamedThing vulvar keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls. tmpak2llvmy_mondo_relaxed.owl vulvar keratinizing squamous cell carcinoma DOID:7363|NCIT:C40284|UMLS:C2109334 owl:Class MONDO:0005056 biolink:NamedThing keratinizing squamous cell carcinoma Squamous cell carcinomas with morphologically prominent production of keratin. tmpak2llvmy_mondo_relaxed.owl keratinizing epidermoid carcinoma|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing (morphologic abnormality)|squamous cell carcinoma, keratinizing DOID:5521|UMLS:C0334247|ICDO:8071/3|NCIT:C4105|EFO:0000559 owl:Class MONDO:0011650 biolink:NamedThing atrioventricular septal defect, susceptibility to, 2 Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. tmpak2llvmy_mondo_relaxed.owl atrioventricular septal defect, partial, with heterotaxy syndrome|CRELD1 atrioventricular septal defect|atrioventricular septal defect, susceptibility to, 2|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, type 2|atrioventricular septal defect caused by mutation in CRELD1|AVSD2 MESH:C565249|OMIM:606217 owl:Class MONDO:0015518 biolink:NamedThing infantile bilateral striatal necrosis Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. tmpak2llvmy_mondo_relaxed.owl striatal degeneration familial|SNDI|striatonigral degeneration infantile|infantile striatonigral degeneration|IBSN|infantile striatonigral necrosis|infantile bilateral striatal necrosis UMLS:C0795996|GARD:0005040|Orphanet:1576|ICD10:G23.2|SCTID:718174008 owl:Class GO:0045684 biolink:NamedThing positive regulation of epidermis development Any process that activates or increases the frequency, rate or extent of epidermis development. tmpak2llvmy_mondo_relaxed.owl stimulation of epidermis development|up-regulation of epidermis development|positive regulation of hypodermis development|up regulation of epidermis development|upregulation of epidermis development|activation of epidermis development|positive regulation of epidermal development owl:Class GO:0051094 biolink:NamedThing positive regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpak2llvmy_mondo_relaxed.owl upregulation of developmental process|stimulation of developmental process|activation of developmental process|up-regulation of developmental process|up regulation of developmental process owl:Class UBERON:0007684 biolink:NamedThing uriniferous tubule functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030885 biolink:NamedThing regulation of myeloid dendritic cell activation Any process that modulates the frequency or rate of myeloid dendritic cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015823 biolink:NamedThing primary immunodeficiency due to a defect in adaptive immunity tmpak2llvmy_mondo_relaxed.owl Orphanet:179006 owl:Class MONDO:0011811 biolink:NamedThing autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia with saccadic Intrusions|spinocerebellar ataxia 24|spinocerebellar ataxia autosomal recessive 4|SCAR4|spinocerebellar ataxia 24, formerly|spinocerebellar ataxia, autosomal recessive 4|SCASI ICD10:G11.1|Orphanet:95434|DOID:0111611|GARD:0004952|MESH:C537310|OMIM:607317|UMLS:C1846492 owl:Class MONDO:0010691 biolink:NamedThing Norrie disease Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. tmpak2llvmy_mondo_relaxed.owl Norrie-Warburg syndrome|Episkopi blindness|Norrie disease|Norrie syndrome|fetal iritis syndrome|nd|NDP|pseudoglioma|atrophia bulborum hereditaria|Norrie-Warburg disease|Anderson-Warburg syndrome|ND MESH:C537849|GARD:0007224|ICD10:H35.5|SCTID:15228007|ICD9:743.8|DOID:0060844|NCIT:C118634|MedDRA:10069760|OMIM:310600|Orphanet:649 https://rarediseases.info.nih.gov/diseases/7224/norrie-disease owl:Class MONDO:0004477 biolink:NamedThing adrenal gland ganglioneuroblastoma A ganglioneuroblastoma arising from the adrenal gland. tmpak2llvmy_mondo_relaxed.owl ganglioneuroblastoma (disease) of adrenal gland|adrenal gland ganglioneuroblastoma (disease)|adrenal gland ganglioneuroblastoma|adrenal ganglioneuroblastoma UMLS:C1332176|NCIT:C7646|DOID:8140 owl:Class GO:0015712 biolink:NamedThing hexose phosphate transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015748 biolink:NamedThing organophosphate ester transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003607 biolink:NamedThing neuritis of upper limb A neuritis that involves the forelimb. tmpak2llvmy_mondo_relaxed.owl neuritis of forelimb|forelimb neuritis DOID:572|ICD9:354 owl:Class CHEBI:16294 biolink:NamedThing barbituric acid A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups. Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active. tmpak2llvmy_mondo_relaxed.owl Barbitursaeure|Malonylharnstoff|2,4,6(1H,3H,5H)-pyrimidinetrione|pyrimidine-2,4,6(1H,3H,5H)-trione|Malonylurea|Barbituric acid owl:Class MONDO:0003889 biolink:NamedThing infiltrating bladder urothelial carcinoma, clear cell variant An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells. tmpak2llvmy_mondo_relaxed.owl clear cell variant infiltrating bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma, clear cell variant UMLS:C1512737|DOID:6476|NCIT:C39827 owl:Class MONDO:0015495 biolink:NamedThing otomandibular dysplasia associated with monogenic syndromes tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:156202|UMLS:CN199632 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: otomandibular dysplasia' MONDO_0015482 owl:Class MONDO:0006381 biolink:NamedThing plexiform ameloblastoma A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma. tmpak2llvmy_mondo_relaxed.owl EFO:1000487|UMLS:C0457529|NCIT:C39753 owl:Class MONDO:0013131 biolink:NamedThing polycystic kidney disease 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. tmpak2llvmy_mondo_relaxed.owl polycystic kidney disease, adult, type 2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|polycystic kidney disease, adult, type II|APKD2|Autosomal dominant polycystic kidney disease type 2|polycystic kidney disease type 2|PKD2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease 2 with or without polycystic liver disease|polycystic kidney disease 2 NCIT:C123166|UMLS:C2751306|DOID:0110859|SCTID:253879006|OMIM:613095 owl:Class MONDO:0004691 biolink:NamedThing autosomal dominant polycystic kidney disease Autosomal dominant form of polycystic kidney disease. tmpak2llvmy_mondo_relaxed.owl autosomal dominant polycystic kidney disease|polycystic kidney disease, autosomal dominant|ADPKD|congenital biliary ectasias SCTID:765330003|MESH:D016891|NCIT:C84578|ICD9:753.12|ICD10:Q61.3|GARD:0010413|UMLS:C0085413|DOID:898|ICD9:753.13|Orphanet:730|UMLS:CN119611|EFO:1001496 owl:Class MONDO:0021834 biolink:NamedThing Akaba Hayasaka syndrome A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. tmpak2llvmy_mondo_relaxed.owl frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia UMLS:C2930948|GARD:0000577|MESH:C535609 https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome owl:Class GO:0045682 biolink:NamedThing regulation of epidermis development Any process that modulates the frequency, rate or extent of epidermis development. tmpak2llvmy_mondo_relaxed.owl regulation of hypodermis development|regulation of epidermal development owl:Class MONDO:0021047 biolink:NamedThing breast phyllodes tumor A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component. tmpak2llvmy_mondo_relaxed.owl phyllodes tumor of the breast|cystosarcoma phyllodes of breast|cystosarcoma phylloides of the breast|cystosarcoma phyllodes of the breast|cystosarcoma phylloides - breast|phyllodes breast tumor|breast phyllodes tumor|phyllodes breast neoplasm|phyllodes neoplasm of breast|breast cystosarcoma phyllodes|phyllodes tumor of breast|breast phyllodes neoplasm|phyllodes neoplasm of the breast SCTID:712989008|ONCOTREE:PT|GARD:0009514|NCIT:C7575 owl:Class HGNC:1348 biolink:NamedThing SAMD9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017240 biolink:NamedThing acrodysostosis with multiple hormone resistance tmpak2llvmy_mondo_relaxed.owl ICD10:Q75.4|Orphanet:280651|UMLS:CN202748 owl:Class MONDO:0015126 biolink:NamedThing polyendocrinopathy tmpak2llvmy_mondo_relaxed.owl ICD10:E31.1|ICD10:E31.0|ICD10:E31.8|Orphanet:101956|ICD10:E31.9 owl:Class MONDO:0019319 biolink:NamedThing verrucous nevus A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings. tmpak2llvmy_mondo_relaxed.owl verrucous Epidermal Nevus NCIT:C4674|Orphanet:79467|ICD10:Q82.5|UMLS:C0362030|SCTID:398723007 owl:Class HGNC:5439 biolink:NamedThing IFNGR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6218 biolink:NamedThing KCNA1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002658 biolink:NamedThing regulation of peripheral tolerance induction Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012150 biolink:NamedThing skeleton of digitopodium A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. tmpak2llvmy_mondo_relaxed.owl digitopodium|skeleton of digits owl:Class NCBITaxon:1173061 biolink:NamedThing Geotrichum candidum tmpak2llvmy_mondo_relaxed.owl Galactomyces candidum|Oospora lactis|Dipodascus geotrichum|Galactomyces candidus|Endomyces geotrichum|Galactomyces geotrichum GC_ID:1 NCBITaxon:1081645|NCBITaxon:426520|NCBITaxon:426521|NCBITaxon:2282360|NCBITaxon:27317 ncbi_taxonomy owl:Class NCBITaxon:43987 biolink:NamedThing Geotrichum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:29426 biolink:NamedThing CCBE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016985 biolink:NamedThing nevus of Ito Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. tmpak2llvmy_mondo_relaxed.owl nevi of Ito|Nevus fuscocaeruleus acromiodeltoideus|Ito's Nevus|hypomelanosis of Ito GARD:0010830|Orphanet:263432|NCIT:C7582|EFO:1000395|UMLS:C0022283|UMLS:CN202288|ICD10:D22.6 owl:Class GO:0032729 biolink:NamedThing positive regulation of interferon-gamma production Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpak2llvmy_mondo_relaxed.owl upregulation of interferon-gamma production|up-regulation of interferon-gamma production|up regulation of interferon-gamma production|positive regulation of type II interferon production|positive regulation of interferon-gamma secretion|positive regulation of interferon-gamma biosynthetic process|stimulation of interferon-gamma production|activation of interferon-gamma production owl:Class MONDO:0008272 biolink:NamedThing polysyndactyly 4 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. tmpak2llvmy_mondo_relaxed.owl polydactyly, preaxial type 4|polydactyly preaxial 4|preaxial polydactyly type 4|polysyndactyly, uncomplicated|crossed polydactyly type 1|polydactyly, preaxial 4|polysyndactyly uncomplicated|crossed polydactyly, type 1|preaxial polydactyly 4|polydactyly, preaxial IV|PPD4 GARD:0001616|GARD:0009903|UMLS:C0265553|Orphanet:93338|ICD10:Q70.4|UMLS:C1868111|OMIM:174700|SCTID:84598000|NCIT:C125597|ICD9:755.10|MedDRA:10063143 https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 owl:Class UBERON:0010359 biolink:NamedThing pharyngeal arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a entire pharyngeal arch associated mesenchyme. tmpak2llvmy_mondo_relaxed.owl branchial arch mesenchyme from neural crest|arch mesenchyme from neural crest|neural crest derived arch mesenchyme owl:Class GO:0045864 biolink:NamedThing positive regulation of pteridine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpak2llvmy_mondo_relaxed.owl stimulation of pteridine metabolic process|positive regulation of pteridine metabolism|activation of pteridine metabolic process|up regulation of pteridine metabolic process|upregulation of pteridine metabolic process|up-regulation of pteridine metabolic process owl:Class MONDO:0021354 biolink:NamedThing tumor of adipose tissue A neoplasm (disease) that involves the adipose tissue. tmpak2llvmy_mondo_relaxed.owl tumor of the adipose tissue|neoplasm of the adipose tissue|tumor of adipose tissue|neoplasm of adipose tissue|adipose tissue neoplasm|lipomatous tumor|adipose tissue neoplasm (disease)|lipomatous neoplasm|adipose tissue tumor SCTID:254831005|NCIT:C4248|UMLS:C0206631|ICD9:239.2 owl:Class MONDO:0003441 biolink:NamedThing dystonic disorder A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. tmpak2llvmy_mondo_relaxed.owl dystonic disease|dystonia|dystonia disorders|dystonic disorder|dystonia disorder ICD10:G24|DOID:543|SCTID:15802004|ICD10:G24.9|NCIT:C34563|MESH:D020821|ICD9:333.90|HP:0001332 owl:Class MONDO:0015357 biolink:NamedThing secondary hypoparathyroidism due to impaired parathormon secretion tmpak2llvmy_mondo_relaxed.owl Orphanet:140286|UMLS:CN242104|ICD10:E20.8 owl:Class MONDO:0001220 biolink:NamedThing hypoparathyroidism Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. tmpak2llvmy_mondo_relaxed.owl parathyroid, underactivity of|hypoparathyroidism, idiopathic (subtype) GARD:0006733|NCIT:C78350|ICD10:E20|SCTID:36976004|DOID:11199|MESH:D007011|ICD9:252.1|ICD10:E20.9 https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism owl:Class MONDO:0020582 biolink:NamedThing benign uterine ligament neoplasm A non-metastasizing neoplasm that arises from the uterine ligament. tmpak2llvmy_mondo_relaxed.owl benign uterine ligament neoplasm UMLS:C0865093|NCIT:C126493 owl:Class FOODON:03411142 biolink:NamedThing aquatic invertebrate animal (excluding shellfish) Aquatic animals other than fish and shellfish tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00002581 biolink:NamedThing aquatic invertebrate An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033850 biolink:NamedThing autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect tmpak2llvmy_mondo_relaxed.owl Orphanet:521411 owl:Class MONDO:0012714 biolink:NamedThing early-onset myopathy with fatal cardiomyopathy tmpak2llvmy_mondo_relaxed.owl SALMY|Salih myopathy|EOMFC|myopathy, early-onset, with fatal cardiomyopathy MESH:C567129|Orphanet:289377|ICD10:G71.8|SCTID:702343002|OMIM:611705|UMLS:C2673677 owl:Class GO:0004689 biolink:NamedThing phosphorylase kinase activity Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. tmpak2llvmy_mondo_relaxed.owl dephosphophosphorylase kinase activity|glycogen phosphorylase kinase activity|phosphorylase B kinase activity|STK17|PHK|ATP:phosphorylase-b phosphotransferase activity|phosphorylase kinase (phosphorylating) activity|phosphorylase kinase, intrinsic catalyst activity owl:Class GO:0004683 biolink:NamedThing calmodulin-dependent protein kinase activity Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. tmpak2llvmy_mondo_relaxed.owl CaMKKalpha|Ca2+/calmodulin-dependent protein kinase II activity|CaMKKbeta|calcium/calmodulin-dependent protein kinase type II activity|Ca2+/calmodulin-dependent protein kinase activity|calcium/calmodulin-dependent protein kinase activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase 1 activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity|CaMKII|Ca2+/calmodulin-dependent protein kinase kinase activity|CaM kinase activity|STK20|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|CAM PKII|Ca2+/calmodulin-dependent protein kinase kinase beta activity|caldesmon kinase (phosphorylating) activity|CaMKIV|Ca2+/CaM-dependent kinase activity|CaMKI|ATP:caldesmon O-phosphotransferase activity|calmodulin-dependent protein kinase I activity|calmodulin regulated protein kinase activity|calmodulin-dependent kinase II activity|Ca2+/calmodulin-dependent protein kinase IV activity|CaM-regulated serine/threonine kinase activity|CaM kinase II activity|multifunctional calcium/calmodulin regulated protein kinase activity|calcium- and calmodulin-dependent protein kinase activity|microtubule-associated protein 2 kinase activity owl:Class MONDO:0025089 biolink:NamedThing infectious bovine rhinotracheitis A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract. tmpak2llvmy_mondo_relaxed.owl Rhinotracheitides, infectious bovine|infectious bovine Rhinotracheitides|Rhinotracheitis, infectious bovine|bovine Rhinotracheitides, infectious|bovine Rhinotracheitis, infectious MESH:D007241|UMLS:C0021334 owl:Class HGNC:175 biolink:NamedThing ACVRL1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014776 biolink:NamedThing midbrain neuromere A neuromere that is part of the presumptive midbrain tmpak2llvmy_mondo_relaxed.owl midbrain segment|mesomere|future mesencephalon|mesomere group|neuromere of mesomere group|mesomere of nervous system|segment of midbrain owl:Class UBERON:0004731 biolink:NamedThing neuromere A transverse unitary subdivision of the neural tube that shares a common dorsoventral structure (floor, basal, alar, and roof plates), but each having differential molecular identities and fates; they comprise the secondary prosencephalon, diencephalon (prosomeres), the midbrain (mesomeres), and the hindbrain (rhombomeres). tmpak2llvmy_mondo_relaxed.owl neuromere|neural metamere|neural tube metameric segment|neural tube segment|neural segment|neuromeres owl:Class MONDO:0012538 biolink:NamedThing nemaline myopathy 7 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy 7, autosomal recessive|nemaline myopathy 7|NEM7|nemaline myopathy caused by mutation in CFL2|CFL2 nemaline myopathy|nemaline myopathy type 7 MESH:C565198|DOID:0110934|UMLS:C1853154|OMIM:610687 owl:Class MONDO:0018895 biolink:NamedThing Plummer-Vinson syndrome Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. tmpak2llvmy_mondo_relaxed.owl Kelly's syndrome|Paterson’s syndrome|Paterson's syndrome|Paterson-Kelly syndrome|dysphagia sideropenica|Plummer Vinson syndrome|Kelly-Paterson syndrome|Paterson-Brown-Kelly syndrome|Sideropenic dysphagia ICD9:280.8|SCTID:80126007|MedDRA:10040664|MESH:D011004|Orphanet:54028|GARD:0008259|ICD10:D50.1|UMLS:C0032249|NCIT:C85016 https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome owl:Class MONDO:0016625 biolink:NamedThing acquired deficiency anemia An instance of deficiency anemia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl rare acquired deficiency anemia UMLS:CN226976|Orphanet:248302 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0004233 biolink:NamedThing childhood pleomorphic rhabdomyosarcoma A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. tmpak2llvmy_mondo_relaxed.owl pleomorphic childhood rhabdomyosarcoma|pediatric pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood|childhood anaplastic rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma NCIT:C7959|UMLS:C0279614|DOID:7463 owl:Class MONDO:0017386 biolink:NamedThing pleomorphic rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. tmpak2llvmy_mondo_relaxed.owl anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type NCIT:C4258|UMLS:C0334480|SCTID:404054005|ONCOTREE:PLRMS|DOID:3250|ICD9:171.9|ICD10:C49.9|Orphanet:293199 owl:Class MONDO:0002167 biolink:NamedThing rectum malignant melanoma An aggressive malignant melanocytic neoplasm that arises from the rectum. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of the rectum|malignant melanoma of rectum|rectal melanoma|rectum melanoma (disease)|melanoma of the rectum|melanoma (disease) of rectum|rectum melanoma|melanoma of rectum|rectal malignant melanoma UMLS:C0349539|DOID:1992|SCTID:276822007|NCIT:C4640 owl:Class UBERON:0006298 biolink:NamedThing submandibular gland primordium A primordium that has the potential to develop into a submandibular gland. tmpak2llvmy_mondo_relaxed.owl submaxillary gland primordium owl:Class NCBITaxon:693762 biolink:NamedThing Schizaeales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1521262 biolink:NamedThing Polypodiidae tmpak2llvmy_mondo_relaxed.owl Polypodiidae PMID:21652310|GC_ID:1 ncbi_taxonomy owl:Class GO:0006000 biolink:NamedThing fructose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. tmpak2llvmy_mondo_relaxed.owl fructose metabolism owl:Class UBERON:0002100 biolink:NamedThing trunk Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. tmpak2llvmy_mondo_relaxed.owl trunk region|thoracolumbar region|Rumpf|torso owl:Class UBERON:0010685 biolink:NamedThing pedal digit phalanx cartilage element A cartilage element that is part of a pedal digit mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit phalanx cartilage element|hind limb digit phalanx cartilage condensation owl:Class GO:0046877 biolink:NamedThing regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006138 biolink:NamedThing cervical large cell neuroendocrine carcinoma A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl cervical neuroendocrine tumor|cervical large cell neuroendocrine carcinoma UMLS:C1516417|ONCOTREE:CENE|DOID:6659|NCIT:C40214|EFO:1000167 owl:Class HP:0009118 biolink:NamedThing Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. tmpak2llvmy_mondo_relaxed.owl UMLS:C4021371|UMLS:C4280261|UMLS:C3494426|UMLS:C4024589|MSH:D063173|UMLS:C4280401 2008-04-05T10:57:00Z human_phenotype owl:Class HP:0000277 biolink:NamedThing Abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw. tmpak2llvmy_mondo_relaxed.owl Deformity of the lower jaw bone|Anomaly of the mandible|Deformity of the mandible|Malformation of the lower jaw bone|Abnormality of the lower jaw bone|Abnormality of the mandible|Malformation of the mandible UMLS:C4025870 HP:0000209 human_phenotype owl:Class MONDO:0010926 biolink:NamedThing familial hypocalciuric hypercalcemia 3 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. tmpak2llvmy_mondo_relaxed.owl hypercalcemia, familial benign, type 3|HHC3|FBH3|hypocalciuric hypercalcemia type III|AP2S1 familial hypocalciuric hypercalcemia|familial benign hypercalcemia, type 3|FBHOk|familial benign hypercalcemia, Oklahoma variant|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|FHH type 3|familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia, familial, type III|hypocalciuric hypercalcemia, familial, type 3|hypercalcemia, familial benign, Oklahoma type Orphanet:101050|MESH:C537147|DOID:0060702|GARD:0002878|OMIM:600740|UMLS:C1833372|ICD10:E83.5 owl:Class MONDO:0018458 biolink:NamedThing familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. tmpak2llvmy_mondo_relaxed.owl FBH|hypocalciuric hypercalcemia|FBHH|FHH|familial benign hypocalciuric hypercalcemia|familial benign hypercalcemia DOID:0060699|NCIT:C123262|UMLS:C0342637|OMIMPS:145980|UMLS:C1809471|GARD:0010828|SCTID:237885008|Orphanet:405|ICD10:E83.5 owl:Class MONDO:0017754 biolink:NamedThing inborn disorder of porphyrin metabolism An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn error of porphyrin-containing compound metabolic process|inborn porphyrin-containing compound metabolic process disorder|disorder of porphyrin and haem metabolism|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism|rare inborn error of porphyrin-containing compound metabolic process ICD10:E80.5|ICD10:E80.4|ICD10:E80.2|ICD10:E80.3|ICD10:E80.6|ICD10:E80.7|ICD10:E80.0|SCTID:403832004|ICD10:E80.1|UMLS:C1275125|Orphanet:309813 Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. owl:Class MONDO:0044767 biolink:NamedThing childhood adrenal gland pheochromocytoma A rare pheochromocytoma of the adrenal gland that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pheochromocytoma, childhood|childhood adrenal gland pheochromocytoma|malignant childhood adrenal gland pheochromocytoma UMLS:CN036354|DOID:0070325|NCIT:C118822|GARD:9368|GTR:AN0102113|GARD:0009368 owl:Class MONDO:0004974 biolink:NamedThing adrenal gland pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. tmpak2llvmy_mondo_relaxed.owl pheochromocytoma|chromaffin paraganglioma of the adrenal gland|adrenal medullary paraganglioma|pheochromocytoma (adrenal)|adrenal gland Chromaffinoma|adrenal gland pheochromocytoma|adrenal gland paraganglioma|adrenal gland chromaffin paraganglioma|Intraadrenal paraganglioma|PCC|adrenal medullary pheochromocytoma|adrenal pheochromocytoma DOID:0050892|EFO:0000239|NCIT:C3326|ICDO:8700/0 owl:Class HP:0002463 biolink:NamedThing Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. tmpak2llvmy_mondo_relaxed.owl Language impairment|Language disorder UMLS:C0023015|SNOMEDCT_US:62305002|MSH:D007806 human_phenotype owl:Class HP:0011446 biolink:NamedThing Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023352 peter 2012-03-18T04:23:59Z human_phenotype owl:Class UBERON:0005460 biolink:NamedThing left vitelline vein A vitelline vein that is in the left side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005388 biolink:NamedThing photoreceptor array An array of photoreceptors and any supporting cells found in an eye. tmpak2llvmy_mondo_relaxed.owl light-sensitive tissue owl:Class HP:0001789 biolink:NamedThing Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:276508000|UMLS:C0020305|MSH:D015160 The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. human_phenotype owl:Class HP:0000969 biolink:NamedThing Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. tmpak2llvmy_mondo_relaxed.owl Water retention|Fluid retention|Dropsy|Oedema|Hydrops MSH:D004487|SNOMEDCT_US:79654002|SNOMEDCT_US:423666004|SNOMEDCT_US:267038008|SNOMEDCT_US:20741006|UMLS:C0013604 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. HP:0000990 human_phenotype owl:Class MONDO:0012682 biolink:NamedThing susceptibility to infection due to TYK2 deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene. tmpak2llvmy_mondo_relaxed.owl TYK2 deficiency|IMD35|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|tyrosine kinase 2 deficiency|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency type 35|HIES with atypical Mycobacteriosis, autosomal recessive|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|immunodeficiency 35 UMLS:C1969086|ICD10:D82.4|Orphanet:331226|OMIM:611521|MESH:C566928 Editor note: check if should be placed under MONDO:0018037 owl:Class MONDO:0017898 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. tmpak2llvmy_mondo_relaxed.owl autosomal recessive MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive 2022-03-01 UMLS:CN203954|ICD10:D84.8|Orphanet:319539 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class MONDO:0008960 biolink:NamedThing Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. tmpak2llvmy_mondo_relaxed.owl deafness with Charcot-Marie-Tooth disease|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|Charcot-Marie-Tooth disease and deafness|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers SCTID:715666007|ICD10:G60.0|Orphanet:90103|OMIM:214370 owl:Class MONDO:0021458 biolink:NamedThing benign neoplasm of penis A benign neoplasm that involves the penis. tmpak2llvmy_mondo_relaxed.owl benign penile tumor|penis benign neoplasm|benign tumor of the penis|benign tumor of penis|benign neoplasm of the penis|benign penile neoplasm NCIT:C3489|ICD9:222.1|ICD10:D29.0|UMLS:C0149627|SCTID:92286008 owl:Class MONDO:0005032 biolink:NamedThing follicular thyroid adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. tmpak2llvmy_mondo_relaxed.owl follicular thyroid adenoma|adenoma of thyroid|thyroid adenoma|thyroid gland follicular adenoma|thyroid follicle adenoma|adenoma of thyroid gland|follicular adenoma of thyroid gland|follicular adenoma|thyroid follicular adenoma|follicular adenoma of thyroid|adenoma of the thyroid gland|thyroid gland adenoma|follicular adenoma of the thyroid|adenoma, follicular cell, benign|follicular adenoma of the thyroid gland|adenoma of the thyroid|follicular adenoma (morphologic abnormality) EFO:0000499|ICDO:8330/0|UMLS:C0205647|NCIT:C3502|DOID:6204|SCTID:255034006 owl:Class MONDO:0002454 biolink:NamedThing thyroid adenoma A adenoma that involves the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid adenoma|adenoma of thyroid gland|thyroid adenoma (disease)|thyroid gland adenoma thyroid adenoma (disease) HP:0000854|SCTID:255033000|DOID:2891|UMLS:C0151468 Editor note: consider merging with follicular thyroid adenoma owl:Class MONDO:0018642 biolink:NamedThing NIK deficiency A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14). tmpak2llvmy_mondo_relaxed.owl MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14|primary immunodeficiency with multifaceted aberrant lymphoid immunity Orphanet:447731|ICD10:D81.8 owl:Class NCBITaxon:122378 biolink:NamedThing Penaeus schmitti tmpak2llvmy_mondo_relaxed.owl Litopenaeus schmitti|white shrimp|Penaeus (Litopenaeus) schmitti GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:133894 biolink:NamedThing Penaeus tmpak2llvmy_mondo_relaxed.owl Marsupenaeus|Fenneropenaeus|Farfantepenaeus|Melicertus|Litopenaeus GC_ID:1 NCBITaxon:133896|NCBITaxon:85653|NCBITaxon:122377|NCBITaxon:133898|NCBITaxon:133900 ncbi_taxonomy owl:Class MONDO:0012123 biolink:NamedThing congenital disorder of glycosylation type 1E The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. tmpak2llvmy_mondo_relaxed.owl CDG syndrome type Ie|Dol-P-mannosyltransferase deficiency|CDGIe|DPM1-CDG (CDG-Ie)|CDG 1E|DPM1 congenital disorder of glycosylation|congenital disorder of glycosylation type 1e|CDG-Ie|CDG Ie|congenital disorder of glycosylation, type Ie|carbohydrate deficient glycoprotein syndrome type Ie|carbohydrate-deficient glycoprotein syndrome type 1E|congenital disorder of glycosylation type 1E|congenital disorder of glycosylation type Ie|congenital disorder of glycosylation caused by mutation in DPM1|DPM1-CDG|CDG1E MESH:C535743|GARD:0009831|NCIT:C126871|DOID:0080557|ICD10:E77.8|SCTID:725078006|OMIM:608799|Orphanet:79322 owl:Class MONDO:0017749 biolink:NamedThing disorder of multiple glycosylation tmpak2llvmy_mondo_relaxed.owl Orphanet:309526|UMLS:CN227195|ICD10:E77.8 owl:Class GO:0044403 biolink:NamedThing biological process involved in symbiotic interaction A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts. tmpak2llvmy_mondo_relaxed.owl symbiotic interaction between organisms|symbiotic interaction between host and organism|symbiotic interaction|symbiotic interaction between species|symbiotic process|parasitism|symbiosis, encompassing mutualism through parasitism|host-pathogen interaction|commensalism|symbiosis owl:Class GO:0044419 biolink:NamedThing biological process involved in interspecies interaction between organisms Any process evolved to enable an interaction with an organism of a different species. tmpak2llvmy_mondo_relaxed.owl interaction with another species|interspecies interaction with other organisms|interspecies interaction between organisms|interspecies interaction owl:Class MONDO:0006363 biolink:NamedThing peritoneal multicystic mesothelioma A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare. tmpak2llvmy_mondo_relaxed.owl benign cystic peritoneal mesothelioma|benign multicystic peritoneal mesothelioma|peritoneal multicystic mesothelioma|multicystic mesothelioma of the peritoneum|multicystic mesothelioma of peritoneum|multilocular peritoneal inclusion cysts|multilocular peritoneal inclusion cyst|peritoneal cystic mesothelioma|multilocular peritoneal cysts|multicystic mesothelioma|BMPM UMLS:C1334818|Orphanet:168816|GARD:0010777|ICD10:C45.1|NCIT:C6536|SCTID:716650003|EFO:1000468 owl:Class MONDO:0006362 biolink:NamedThing peritoneal mesothelioma A benign or malignant mesothelial neoplasm that arises from the peritoneum. tmpak2llvmy_mondo_relaxed.owl peritoneum mesothelioma|mesothelioma of peritoneum|mesothelioma of the peritoneum|peritoneal mesothelioma (disease)|peritoneal mesothelioma peritoneal mesothelioma (disease) ICD10:C45.1|ONCOTREE:PEMESO|HP:0100003|NCIT:C7633|EFO:1000467|SCTID:109853004 owl:Class MONDO:0003976 biolink:NamedThing malignant type AB thymoma A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. tmpak2llvmy_mondo_relaxed.owl thymoma, mixed type, malignant|malignant type AB thymoma|thymoma type AB, malignant|malignant thymoma type AB UMLS:C1266093|DOID:6723|ICDO:8582/3|NCIT:C6886 owl:Class GO:0050908 biolink:NamedThing detection of light stimulus involved in visual perception The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory transduction of light during visual perception|sensory transduction of light stimulus during visual perception|visual perception, detection of light stimulus|sensory detection of light during visual perception|visual perception, sensory transduction of light stimulus|visual perception, sensory transduction during perception of light|sensory detection of light stimulus during visual perception owl:Class GO:0050962 biolink:NamedThing detection of light stimulus involved in sensory perception The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. tmpak2llvmy_mondo_relaxed.owl sensory detection of light stimulus during sensory perception|sensory perception, sensory detection of light stimulus|sensory transduction of light stimulus|sensory transduction of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus|sensory detection of light stimulus owl:Class MONDO:0019634 biolink:NamedThing familial nasal acilia Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. tmpak2llvmy_mondo_relaxed.owl Orphanet:922|SCTID:763532008|GARD:0002254|UMLS:CN206502|ICD10:Q30.8 https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia owl:Class GO:1902492 biolink:NamedThing positive regulation of sperm capacitation Any process that activates or increases the frequency, rate or extent of sperm capacitation. tmpak2llvmy_mondo_relaxed.owl activation of sperm capacitation|positive regulation of sperm activation|upregulation of sperm activation|up regulation of sperm capacitation|up-regulation of sperm activation|up-regulation of sperm capacitation|activation of sperm activation|up regulation of sperm activation|upregulation of sperm capacitation owl:Class CL:0002595 biolink:NamedThing smooth muscle cell of the subclavian artery A smooth muscle cell of the subclavian artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:52Z cell owl:Class MONDO:0000952 biolink:NamedThing cancer of long bone of lower limb A cancer that involves the hindlimb long bone. tmpak2llvmy_mondo_relaxed.owl long bones of lower limb cancer|hindlimb long bone cancer|cancer of hindlimb long bone|malignant hindlimb long bone neoplasm|malignant neoplasm of long bones of leg|malignant neoplasm of hindlimb long bone DOID:10149|SCTID:449627008|UMLS:C3265932|ICD9:170.7|ICD10:C40.2 owl:Class CHEBI:26714 biolink:NamedThing sodium salt Any alkali metal salt having sodium(1+) as the cation. tmpak2llvmy_mondo_relaxed.owl sodium salts|Natriumsalze|Natriumsalz owl:Class CHEBI:26712 biolink:NamedThing sodium molecular entity tmpak2llvmy_mondo_relaxed.owl sodium compounds|sodium molecular entities owl:Class MONDO:0042982 biolink:NamedThing GATA2 deficiency with susceptibility to MDS/AML A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]). tmpak2llvmy_mondo_relaxed.owl GATA2 deficiency/MonoMac syndrome|GATA2 deficiency|GATA2 deficiency with susceptibility to MDS/AML GARD:0013373|NCIT:C126349 The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity owl:Class HGNC:27561 biolink:NamedThing TSEN54 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14124 biolink:NamedThing NPRL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006130 biolink:NamedThing central nervous system neoplasm A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. tmpak2llvmy_mondo_relaxed.owl tumor of central nervous system|central nervous system tumor|tumor of the central nervous system|CNS neoplasm|central nervous system neoplasm (disease)|central nervous system neoplasm|tumor of CNS|brain/spinal cord tumor|neoplasm of the central nervous system|neoplasm of central nervous system|CNS tumor|tumor of the CNS|neoplasm of CNS EFO:1000158|NCIT:C9293 owl:Class MONDO:0019849 biolink:NamedThing isolated micropenis tmpak2llvmy_mondo_relaxed.owl ICD10:Q55.6|Orphanet:95707 owl:Class NBO:0002603 biolink:NamedThing regulation of sexual activity "Any process that modulates the frequency, rate or extent of sexual activity, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG] tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000087 biolink:NamedThing dentate gyrus of hippocampal formation basket cell Any basket cell that is part of a dentate gyrus of hippocampal formation. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-24T00:37:24Z cell owl:Class CL:0000118 biolink:NamedThing basket cell Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells. tmpak2llvmy_mondo_relaxed.owl https://orcid.org/0000-0002-2825-0621 cell owl:Class HGNC:939 biolink:NamedThing BAG3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004698 biolink:NamedThing vena cava endothelium An endothelium that is part of a vena cava [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001919 biolink:NamedThing endothelium of vein An endothelium that is part of a vein [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vein endothelium|venous endothelium|veinous endothelium owl:Class CL:1001588 biolink:NamedThing colon glandular cell Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpak2llvmy_mondo_relaxed.owl colon glandular cells CALOHA:TS-1274 owl:Class GO:0070008 biolink:NamedThing serine-type exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008236 biolink:NamedThing serine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpak2llvmy_mondo_relaxed.owl serine protease activity owl:Class MONDO:0009367 biolink:NamedThing McKusick-Kaufman syndrome McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. tmpak2llvmy_mondo_relaxed.owl Kaufman-Mckusick syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|MKKS|Kaufman McKusick syndrome|hydrometrocolpos syndrome|McKusick-Kaufman syndrome|HMCS|MCKUSICK-Kaufman syndrome|hydrometrocolpos-postaxial polydactyly syndrome|McKusick Kaufman syndrome UMLS:C0948368|DOID:0111255|SCTID:702407009|OMIM:236700|ICD10:Q87.8|ICD9:758.89|MedDRA:10052312|Orphanet:2473|MESH:C538159|GARD:0003427 https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome owl:Class MONDO:0002032 biolink:NamedThing colon carcinoma A carcinoma that arises from epithelial cells of the colon tmpak2llvmy_mondo_relaxed.owl carcinoma of colon|carcinoma of the colon|colon cancer|colonic carcinoma|colon carcinoma EFO:1001950|UMLS:C0699790|SCTID:269533000|DOID:1520|NCIT:C4910 owl:Class MONDO:0012950 biolink:NamedThing aneurysm, intracranial berry, 10 tmpak2llvmy_mondo_relaxed.owl ANIB10|aneurysm, intracranial BERRY, 10 MESH:C567237|UMLS:C2675484|OMIM:612587 owl:Class MONDO:0015048 biolink:NamedThing amelogenesis imperfecta type 2 tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta hypomaturation type|hypomaturation amelogenesis imperfecta MESH:C536606|ICD10:K00.5|ICD9:520.5|GARD:0008349|SCTID:109475005|Orphanet:100033 owl:Class MONDO:0014212 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type C A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. tmpak2llvmy_mondo_relaxed.owl molybdenum cofactor deficiency, complementation group type C|MOCODC|molybdenum cofactor deficiency, complementation group C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency type C|molybdenum cofactor deficiency complementation group C|MOCOD type C DOID:0111166|PMID:11095995|Orphanet:308400|MESH:C565374|OMIM:615501|ICD10:E72.1|UMLS:C1854990 owl:Class MONDO:0020480 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency tmpak2llvmy_mondo_relaxed.owl combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|MOCOD|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase GARD:0003705|Orphanet:99732|ICD10:E72.1|OMIMPS:252150|DOID:0111165 Editor note: DO class is more general owl:Class UBERON:0004534 biolink:NamedThing right testis A testis that is in the right side of the genitalia [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right testicle owl:Class MONDO:0020512 biolink:NamedThing precursor T-cell acute lymphoblastic leukemia tmpak2llvmy_mondo_relaxed.owl precursor T-cell acute lymphocytic leukemia|precursor T-cell acute lymphoblastic leukemia/lymphoma|T-ALL|precursor T-cell acute lymphocytic leukemia/lymphoma ICD10:C91.0|Orphanet:99861 owl:Class MONDO:0004967 biolink:NamedThing acute lymphoblastic leukemia Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. tmpak2llvmy_mondo_relaxed.owl acute lymphocytic leukemias|acute lymphocytic leukaemia|ALL - acute lymphocytic leukemia|lymphoblastic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemia|acute lymphoblastic leukemia (ALL)|leukemia, lymphoblastic, malignant|ALL|precursor Lymphoblasic leukemia|acute lymphogenous leukemia|acute lymphoid leukemia|precursor lymphoblastic leukemia|precursor cell lymphoblastic leukemia|acute lymphoblastic leukemia (disease)|acute lymphoblastic leukemia|acute lymphoblastic leukemia/lymphoma acute lymphoblastic leukemia (disease) HP:0006721|ICD10:C91.9|ICD9:204.00|ICD9:204|DOID:9952|DOID:1037|ICD10:C91|ICD9:204.0|NCIT:C3167|ICD10:C91.0|EFO:0000220|GARD:0000522|SCTID:91857003|Orphanet:513|ICDO:9835/3|ICD10:C91.90|ICD10:C91.00|ICD9:204.9 owl:Class GO:0007626 biolink:NamedThing locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. tmpak2llvmy_mondo_relaxed.owl locomotory behavioural response to stimulus|behavior via locomotion|locomotory behavioral response to stimulus|locomotion in response to stimulus|locomotory behaviour owl:Class MONDO:0014067 biolink:NamedThing short ulna-dysmorphism-hypotonia-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 35|intellectual disability, autosomal recessive 35|MRT35 Orphanet:357175|OMIM:615162|UMLS:C3554609|ICD10:Q87.8 owl:Class MONDO:0006015 biolink:NamedThing Waterhouse-Friderichsen syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. tmpak2llvmy_mondo_relaxed.owl Waterhouse–Friderichsen syndrome|meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|WFS DOID:9931|UMLS:C0043068|Orphanet:100067|ICD9:036.3|MedDRA:10047847|GARD:0009449|EFO:0007544|ICD10:A39.1+|MESH:D014884|ICD10:E35.1*|NCIT:C85225|SCTID:36102002|ICD10:A39.1 owl:Class MONDO:0003291 biolink:NamedThing leiomyoma cutis A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl skin leiomyoma|leiomyoma cutis|zone of skin leiomyoma|leiomyoma of the skin|leiomyoma of zone of skin|leiomyoma of skin|cutaneous (skin) leiomyoma|cutaneous leiomyoma NCIT:C4482|SCTID:254767008|UMLS:C0346064|DOID:5132 owl:Class CHEBI:28479 biolink:NamedThing D-tyrosine An optically active form of tyrosine having D-configuration. tmpak2llvmy_mondo_relaxed.owl D-Tyrosine|(2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|DTY|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|D-tyrosine|(R)-3-(p-Hydroxyphenyl)alanine|D-Tyrosin|D-TYROSINE|D-Tyr owl:Class CHEBI:16733 biolink:NamedThing D-alpha-amino acid tmpak2llvmy_mondo_relaxed.owl D-alpha-amino acids|D-Amino acid|D-alpha-amino acid owl:Class MONDO:0013719 biolink:NamedThing cranioectodermal dysplasia 4 tmpak2llvmy_mondo_relaxed.owl CED4|cranioectodermal dysplasia type 4|cranioectodermal dysplasia 4 OMIM:614378|UMLS:C3280616 owl:Class HGNC:3218 biolink:NamedThing EFEMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002376 biolink:NamedThing immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022800 biolink:NamedThing type 2 collagenopathy Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. tmpak2llvmy_mondo_relaxed.owl collagen II|COL2A1|disease or disorder caused by mutation in COL2A1|COL2A1 disease or disorder|cartilage collagen|collagenopathy type 2 alpha 1 Orphanet:93421|GARD:0009246|UMLS:CN227672|MESH:C535964|HGNC:2200|UMLS:C2931073 https://github.com/monarch-initiative/mondo/issues/3574|https://github.com/monarch-initiative/mondo/issues/3698|https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 owl:Class MONDO:0001892 biolink:NamedThing spinal cord lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. tmpak2llvmy_mondo_relaxed.owl spinal cord cancer|lymphoma of the spinal cord|spinal cord lymphoma|primary spinal cord lymphoma|lymphoma of spinal cord UMLS:C1336044|NCIT:C5157|DOID:14150 owl:Class GO:0050678 biolink:NamedThing regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002612 biolink:NamedThing frontal lobe epilepsy A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) tmpak2llvmy_mondo_relaxed.owl epilepsy of frontal lobe|frontal lobe epilepsy MESH:D017034|UMLS:C0085541|DOID:3331|SCTID:230394006 owl:Class MONDO:0003546 biolink:NamedThing third cranial nerve disease A disease involving the oculomotor nerve. tmpak2llvmy_mondo_relaxed.owl disease of oculomotor nerve|disease or disorder of oculomotor nerve|oculomotor nerve disease|oculomotor nerve disease or disorder|disorder of oculomotor nerve|oculomotor nerve disorder MESH:D015840|UMLS:C0271353|DOID:562|SCTID:60750009|NCIT:C27598 owl:Class UBERON:0006822 biolink:NamedThing proximal epiphysis of ulna The head of ulna presents an articular surface, part of which, of an oval or semilunar form, is directed downward, and articulates with the upper surface of the triangular articular disk which separates it from the wrist-joint; the remaining portion, directed lateralward, is narrow, convex, and received into the ulnar notch of the radius. tmpak2llvmy_mondo_relaxed.owl caput ulnae|proximal end of ulna|upper end of ulna|head of ulna owl:Class UBERON:0004386 biolink:NamedThing epiphysis of ulna An epiphysis that is part of an ulna [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ulnar epiphysis owl:Class MONDO:0007294 biolink:NamedThing central core myopathy An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. tmpak2llvmy_mondo_relaxed.owl central core disease|CCD|neuromuscular disease, congenital, with uniform type 1 Fiber|multiminicore disease, moderate, with hand involvement|myopathy, central fibrillar|muscle core disease|myopathy, central core|muscular central core disease|central CORE disease of muscle|Cco|Shy-Magee syndrome|multicore myopathy, moderate, with hand involvement|minicore myopathy, moderate, with hand involvement Orphanet:597|NCIT:C83010|MESH:D020512|ICD10:G71.2|UMLS:C0751951|SCTID:43152001|GARD:0006014|DOID:3529|EFO:1000855|OMIM:117000 owl:Class MONDO:0100150 biolink:NamedThing RYR1-related myopathy tmpak2llvmy_mondo_relaxed.owl RYR1-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000387 biolink:NamedThing hypochromic microcytic anemia Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic). tmpak2llvmy_mondo_relaxed.owl hypochromic microcytic anemia|hypochromic microcytic anemia (disease) hypochromic microcytic anemia (disease) DOID:0050642|HP:0004840|SCTID:44666001|UMLS:C0271901|MESH:C536357 owl:Class MONDO:0001357 biolink:NamedThing hypochromic anemia Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. tmpak2llvmy_mondo_relaxed.owl hypochromic anemia (disease)|hypochromic anemia|anemia hypochromic hypochromic anemia (disease) DOID:11759|NCIT:C34380|UMLS:C0002884|SCTID:44452003|HP:0001931|ICD10:D50 owl:Class MONDO:0003049 biolink:NamedThing ovarian large-cell neuroendocrine carcinoma A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl non-small-cell type neuroendocrine carcinoma of the ovary|large cell neuroendocrine carcinoma of ovary|large cell neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of the ovary|ovarian large cell NEC|ovarian large cell neuroendocrine carcinoma|ovarian non-small-cell type neuroendocrine carcinoma|ovary large cell neuroendocrine carcinoma|non-small-cell type neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of ovary UMLS:C1335174|NCIT:C5238|DOID:4555 owl:Class MONDO:0005439 biolink:NamedThing familial hypercholesterolemia An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. tmpak2llvmy_mondo_relaxed.owl Fredrickson type IIa hyperlipoproteinemia|hyperlipoproteinemia type II|type II hyperlipidemia|familial hyperbetalipoproteinaemia|hyperbetalipoproteinemia|familial hypercholesteremia|Fredrickson type IIa lipidaemia OMIMPS:143890|ICD9:V19.8|DOID:13810|EFO:0004911|UMLS:CN118841|SCTID:190773008|NCIT:C34704|ICD10:E78.0 Editor note: TODO check xrefs owl:Class MONDO:0037748 biolink:NamedThing hyperlipoproteinemia An elevated concentration of lipoproteins. tmpak2llvmy_mondo_relaxed.owl hyperlipoproteinemia HP:0010980|UMLS:C0020476|NCIT:C34709 owl:Class UBERON:0001253 biolink:NamedThing lamina propria of ureter A lamina propria that is part of a ureter [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ureter lamina propria mucosae|lamina propria mucosae of ureter|ureter lamina propria|lamina propria mucosa of ureter|ureter lamina propria mucosa owl:Class MONDO:0021076 biolink:NamedThing pancreatic exocrine neoplasm A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpak2llvmy_mondo_relaxed.owl pancreatic exocrine neoplasm|tumor of the exocrine pancreas|exocrine pancreas tumor|neoplasm of exocrine pancreas|neoplasm of the exocrine pancreas|exocrine pancreas neoplasm|pancreatic exocrine tumor|tumor of exocrine pancreas|exocrine pancreas neoplasm (disease) NCIT:C4445|UMLS:C0345920|ICD9:235.5|SCTID:254604005 owl:Class MONDO:0014945 biolink:NamedThing myopathy, distal, with rimmed vacuoles tmpak2llvmy_mondo_relaxed.owl DMRV|myopathy, distal, with rimmed vacuoles|myopathy, distal, with rimmed vacuoles; DMRV OMIM:617158|UMLS:CN239822 owl:Class MONDO:0023171 biolink:NamedThing foix chavany Marie syndrome Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. tmpak2llvmy_mondo_relaxed.owl facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis|bilateral anterior opercular syndrome|pseudobulbar paralysis, cortical type|anterior opercular syndrome|congenital Foix-Chavany-Marie syndrome (subtype)|foix chavany Marie syndrome|opercular syndrome, anterior|facio-pharyngo-glosso-masticatory diplegia|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|congenital Foix-Chavany-Marie syndrome Orphanet:2048|GARD:0002351|MESH:C537069|SCTID:720956003|UMLS:C2931412 https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome owl:Class MONDO:0001819 biolink:NamedThing multiple cranial nerve palsy tmpak2llvmy_mondo_relaxed.owl multiple cranial nerve palsies UMLS:C0154733|ICD9:352.6|SCTID:78152008|ICD10:G52.7|DOID:13866 owl:Class MONDO:0100148 biolink:NamedThing X-linked complex neurodevelopmental disorder A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. tmpak2llvmy_mondo_relaxed.owl X-linked complex neurodevelopmental disorder http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045666 biolink:NamedThing positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation. tmpak2llvmy_mondo_relaxed.owl activation of neuron differentiation|up regulation of neuron differentiation|up-regulation of neuron differentiation|upregulation of neuron differentiation|stimulation of neuron differentiation owl:Class MONDO:0019989 biolink:NamedThing pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. tmpak2llvmy_mondo_relaxed.owl pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis Orphanet:97564|ICD10:N05.7 owl:Class MONDO:0019641 biolink:NamedThing pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. tmpak2llvmy_mondo_relaxed.owl Orphanet:93126|ICD10:N05.7 owl:Class NCBITaxon:6935 biolink:NamedThing Ixodida tmpak2llvmy_mondo_relaxed.owl ticks GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6934 biolink:NamedThing Parasitiformes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1904730 biolink:NamedThing negative regulation of intestinal lipid absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption. tmpak2llvmy_mondo_relaxed.owl down regulation of intestinal lipid absorption|down-regulation of intestinal lipid absorption|inhibition of intestinal lipid absorption|downregulation of intestinal lipid absorption owl:Class GO:1904479 biolink:NamedThing negative regulation of intestinal absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. tmpak2llvmy_mondo_relaxed.owl inhibition of intestinal absorption|down-regulation of intestinal absorption|down regulation of intestinal absorption|downregulation of intestinal absorption owl:Class UBERON:0002188 biolink:NamedThing respiratory bronchiole A bronchiole that is the first segment of the respiratory zone. tmpak2llvmy_mondo_relaxed.owl bronchiolus respiratorii|bronchiolus respiratorius owl:Class MONDO:0018335 biolink:NamedThing deep dermatophytosis tmpak2llvmy_mondo_relaxed.owl disseminated granulomatous dermatophytosis ICD10:B35.8|Orphanet:397587 owl:Class MONDO:0024662 biolink:NamedThing colorectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl colorectal tubulovillous adenoma|tubulovillous adenoma of large bowel|tubulovillous adenoma of the large bowel|large bowel tubulovillous adenoma UMLS:C1333118|NCIT:C5675 owl:Class GO:0001911 biolink:NamedThing negative regulation of leukocyte mediated cytotoxicity Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. tmpak2llvmy_mondo_relaxed.owl inhibition of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|down-regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity owl:Class CHEBI:33674 biolink:NamedThing s-block molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. tmpak2llvmy_mondo_relaxed.owl s-block compounds|s-block molecular entities|s-block molecular entity owl:Class MONDO:0002377 biolink:NamedThing breast intracanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. tmpak2llvmy_mondo_relaxed.owl breast intracanalicular fibroadenoma|intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma|intracanalicular fibroadenoma of the breast|intracanalicular breast fibroadenoma NCIT:C4271|UMLS:C0334496|DOID:2656|ICDO:9011/0 owl:Class MONDO:0002056 biolink:NamedThing breast fibroadenoma A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. tmpak2llvmy_mondo_relaxed.owl fibroadenoma, benign|juvenile fibroadenoma|cellular fibroadenoma|juvenile fibroadenoma (morphologic abnormality)|FA|fibroadenoma|Complex fibroadenoma of breast|fibroadenoma of breast|fibroadenoma of the breast|breast fibroadenoma|juvenile fibroadenoma of breast SCTID:254847007|ICDO:9010/0|DOID:1618|EFO:1000254|ICD10:D24|UMLS:C0178421|UMLS:C0206650|UMLS:C0346158|NCIT:C3744|ONCOTREE:FA|MESH:D018226 owl:Class MONDO:0003984 biolink:NamedThing internal auditory canal lipoma A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. tmpak2llvmy_mondo_relaxed.owl lipoma of the internal auditory canal|inner Ear lipoma|lipoma of internal acoustic meatus|internal Ear lipoma|internal acoustic meatus lipoma|lipoma of internal auditory canal NCIT:C5452|UMLS:C1334226|DOID:6752 owl:Class MONDO:0024239 biolink:NamedThing congenital anomaly of cardiovascular system A disease that has its basis in the disruption of cardiovascular system development. tmpak2llvmy_mondo_relaxed.owl congenital cardiovascular disorder|congenital cardiovascular Abnormality|cardiovascular system development disease|disorder of cardiovascular system development|congenital Abnormality of the circulatory system|congenital anomaly of cardiovascular system|congenital cardiovascular anomaly NCIT:C35729|SCTID:9904008|ICD9:747.9|ICD9:747.89 owl:Class UBERON:0011592 biolink:NamedThing future upper lip tmpak2llvmy_mondo_relaxed.owl upper jaw future lip owl:Class MONDO:0005325 biolink:NamedThing radius fracture Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. tmpak2llvmy_mondo_relaxed.owl EFO:0003957|MESH:D011885|SCTID:12676007 owl:Class MONDO:0021299 biolink:NamedThing carcinoma in situ of extrahepatic bile duct A in situ carcinoma that involves the extrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl stage 0 extrahepatic bile duct carcinoma in situ|carcinoma in situ of extrahepatic bile ducts|carcinoma in situ of extrahepatic biliary ducts|extrahepatic biliary duct carcinoma in situ|extrahepatic bile duct cancer stage 0|stage 0 carcinoma of extrahepatic bile duct|extrahepatic bile duct in situ carcinoma|stage 0 extrahepatic bile duct carcinoma|stage 0 extrahepatic bile duct cancer|extrahepatic bile duct carcinoma in situ|carcinoma in situ of extrahepatic bile duct|carcinoma in situ of the extrahepatic bile duct|stage 0 carcinoma of the extrahepatic bile duct SCTID:92589000|UMLS:C0345914|NCIT:C4442 owl:Class MONDO:0003090 biolink:NamedThing extrahepatic bile duct carcinoma A carcinoma that arises from epithelial cells of the extrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct carcinoma|extrahepatic bile duct cancer|carcinoma of the extrahepatic bile duct|carcinoma of extrahepatic bile duct NCIT:C3860|DOID:4682|UMLS:C0238019|SCTID:372101000 owl:Class HP:0002475 biolink:NamedThing Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. tmpak2llvmy_mondo_relaxed.owl Spina bifida cystica|Meningomyelocele UMLS:C0025312|MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|Fyler:4309 Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. human_phenotype owl:Class HP:0002435 biolink:NamedThing Meningocele Protrusion of the meninges through a defect of the vertebral column. tmpak2llvmy_mondo_relaxed.owl MSH:D008588|UMLS:C0025299|SNOMEDCT_US:171131006 human_phenotype owl:Class MONDO:0006327 biolink:NamedThing ocular sebaceous carcinoma Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases. tmpak2llvmy_mondo_relaxed.owl eye sebaceous carcinoma|ocular sebaceous carcinoma UMLS:C1709308|EFO:1000405|NCIT:C43340 owl:Class MONDO:0014205 biolink:NamedThing severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome tmpak2llvmy_mondo_relaxed.owl severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome|BRPS|Bainbridge-Roppers syndrome|BAINBRIDGE-ROPERS syndrome UMLS:C3809650|ICD10:Q87.0|OMIM:615485|Orphanet:352577 owl:Class GO:2000384 biolink:NamedThing negative regulation of ectoderm development Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000383 biolink:NamedThing regulation of ectoderm development Any process that modulates the frequency, rate or extent of ectoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008871 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type I A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. tmpak2llvmy_mondo_relaxed.owl osteodysplastic primordial dwarfism type I|MOPD 1|microcephalic osteodysplastic primordial dwarfism, type 1|brachymelic primordial dwarfism|osteodysplastic primordial dwarfism, type 1|microcephalic osteodysplastic primordial dwarfism, type I|Cephaloskeletal dysplasia|MOPD1|low-birth-weight dwarfism with skeletal dysplasia|Brachymelic primordial dwarfism|cephaloskeletal dysplasia|Taybi-Linder syndrome OMIM:210710|SCTID:254102008|ICD10:Q87.1|DOID:0060608 owl:Class GO:0046887 biolink:NamedThing positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. tmpak2llvmy_mondo_relaxed.owl up-regulation of hormone secretion|upregulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion owl:Class UBERON:0010189 biolink:NamedThing right atrium venous valve tmpak2llvmy_mondo_relaxed.owl right venous valve owl:Class UBERON:0005208 biolink:NamedThing right atrium valve A valve that is part of a right atrium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl superior vena cava valve|valve of right atrium|right atrium valves owl:Class CHEBI:25435 biolink:NamedThing mutagen An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. tmpak2llvmy_mondo_relaxed.owl mutagenic agent|mutagenes|mutagene|mutageno|mutagens|mutagenos owl:Class CHEBI:50902 biolink:NamedThing genotoxin A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells. tmpak2llvmy_mondo_relaxed.owl genotoxic agents|genotoxic agent|genotoxins owl:Class CL:0000170 biolink:NamedThing glucagon secreting cell A cell that secretes glucagon. tmpak2llvmy_mondo_relaxed.owl glucagon-secreting cell FMA:84045 cell owl:Class MONDO:0010198 biolink:NamedThing Wernicke-Korsakoff syndrome Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. tmpak2llvmy_mondo_relaxed.owl Korsakoff syndrome|Korsakoff's syndrome|Wernicke-Korsakoff syndrome|Korsakov's psychosis|Korsakov psychosis|alcohol-induced encephalopathy|transketolase defect|Wernicke encephalopathy|Korsakoff's psychosis NCIT:C35764|DOID:10915|OMIM:277730|MESH:C538669|SCTID:69482004|EFO:1001242|MedDRA:10047913|GARD:0006843 Editor note: todo check https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome owl:Class MONDO:0020107 biolink:NamedThing hemolytic anemia due to an erythrocyte nucleotide metabolism disorder tmpak2llvmy_mondo_relaxed.owl hemolytic anemia due to an erythroenzymopathy 2022-03-01 ICD10:D55.3|UMLS:CN227784|Orphanet:98374 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0018527 biolink:NamedThing osteoclastic giant cell tumor of pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic undifferentiated carcinoma with osteoclast-like giant cells|OGCT of pancreas|undifferentiated carcinoma of pancreas with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor ICD10:C25.0|ICD10:C25.7|ICD10:C25.2|Orphanet:424080|ICD10:C25.8|ICD10:C25.1|UMLS:CN237530 Editor note: consider merging with MONDO:0006479 owl:Class MONDO:0014866 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2T A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth disease, axonal, type 2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|AR-CMT2T|Charcot-Marie-Tooth disease, axonal, type 2t|CMT2T|DNAJB2-related CMT2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|Charcot-Marie-Tooth neuropathy, type 2T|DNAJB2-related Charcot-Marie-Tooth disease type 2 ICD10:G60.0|UMLS:C4015635|OMIM:617017|Orphanet:443950|DOID:0110160 owl:Class MONDO:0012104 biolink:NamedThing acquired partial lipodystrophy Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. tmpak2llvmy_mondo_relaxed.owl APLD|acquired partial lipodystrophy|progressive cephalothoracic lipodystrophy|lipodystrophy, partial, acquired, susceptibility to|lipodystrophy cephalothoracic type|Barraquer-Simons syndrome|susceptibility to partial acquired lipodystrophy|lipodystrophy, cephalothoracic type|Apld, susceptibility to|lipodystophy partial progressive|partial acquired lipodystrophy|lipodystrophy, partial, progressive|lipodystrophy partial acquired UMLS:C0220989|GARD:0010509|Orphanet:79087|OMIM:608709|NCIT:C129723|MESH:C562448|ICD10:E88.1|SCTID:75659004 owl:Class BFO:0000144 biolink:NamedThing process profile b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) tmpak2llvmy_mondo_relaxed.owl ProcessProfile process-profile b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005]) On a somewhat higher level of complexity are what we shall call rate process profiles, which are the targets of selective abstraction focused not on determinate quality magnitudes plotted over time, but rather on certain ratios between these magnitudes and elapsed times. A speed process profile, for example, is represented by a graph plotting against time the ratio of distance covered per unit of time. Since rates may change, and since such changes, too, may have rates of change, we have to deal here with a hierarchy of process profile universals at successive levels|The simplest type of process profiles are what we shall call ‘quality process profiles’, which are the process profiles which serve as the foci of the sort of selective abstraction that is involved when measurements are made of changes in single qualities, as illustrated, for example, by process profiles of mass, temperature, aortic pressure, and so on.|One important sub-family of rate process profiles is illustrated by the beat or frequency profiles of cyclical processes, illustrated by the 60 beats per minute beating process of John’s heart, or the 120 beats per minute drumming process involved in one of John’s performances in a rock band, and so on. Each such process includes what we shall call a beat process profile instance as part, a subtype of rate process profile in which the salient ratio is not distance covered but rather number of beat cycles per unit of time. Each beat process profile instance instantiates the determinable universal beat process profile. But it also instantiates multiple more specialized universals at lower levels of generality, selected from rate process profilebeat process profileregular beat process profile3 bpm beat process profile4 bpm beat process profileirregular beat process profileincreasing beat process profileand so on.In the case of a regular beat process profile, a rate can be assigned in the simplest possible fashion by dividing the number of cycles by the length of the temporal region occupied by the beating process profile as a whole. Irregular process profiles of this sort, for example as identified in the clinic, or in the readings on an aircraft instrument panel, are often of diagnostic significance. (forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005] |(iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002] owl:Class BFO:0000015 biolink:NamedThing process An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.|p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])|p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])|An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. tmpak2llvmy_mondo_relaxed.owl Process process BFO 2 Reference: The realm of occurrents is less pervasively marked by the presence of natural units than is the case in the realm of independent continuants. Thus there is here no counterpart of ‘object’. In BFO 1.0 ‘process’ served as such a counterpart. In BFO 2.0 ‘process’ is, rather, the occurrent counterpart of ‘material entity’. Those natural – as contrasted with engineered, which here means: deliberately executed – units which do exist in the realm of occurrents are typically either parasitic on the existence of natural units on the continuant side, or they are fiat in nature. Thus we can count lives; we can count football games; we can count chemical reactions performed in experiments or in chemical manufacturing. We cannot count the processes taking place, for instance, in an episode of insect mating behavior.Even where natural units are identifiable, for example cycles in a cyclical process such as the beating of a heart or an organism’s sleep/wake cycle, the processes in question form a sequence with no discontinuities (temporal gaps) of the sort that we find for instance where billiard balls or zebrafish or planets are separated by clear spatial gaps. Lives of organisms are process units, but they too unfold in a continuous series from other, prior processes such as fertilization, and they unfold in turn in continuous series of post-life processes such as post-mortem decay. Clear examples of boundaries of processes are almost always of the fiat sort (midnight, a time of death as declared in an operating theater or on a death certificate, the initiation of a state of war) a process of sleeping|the flight of a bird|a process of cell-division, \ a beating of the heart|a process of meiosis|your process of aging.|the life of an organism|the course of a disease (iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003] owl:Class MONDO:0015394 biolink:NamedThing nasal encephalocele Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. tmpak2llvmy_mondo_relaxed.owl Orphanet:141118|SCTID:65455002|ICD10:Q01.1 owl:Class NCBITaxon:2726946 biolink:NamedThing Cladosporiales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:451867 biolink:NamedThing Dothideomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:17486979 ncbi_taxonomy owl:Class MONDO:0018685 biolink:NamedThing incessant infant ventricular tachycardia Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. tmpak2llvmy_mondo_relaxed.owl UMLS:C0340487|Orphanet:45453|ICD10:I47.2|SCTID:233908008 owl:Class MONDO:0016348 biolink:NamedThing non-genetic cardiac rhythm disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN201186|Orphanet:218439 owl:Class MONDO:0001475 biolink:NamedThing neutropenia A decrease in the number of neutrophils found in the blood. tmpak2llvmy_mondo_relaxed.owl neutropenia|neutropenic disorder ICD10:D70|ICD9:288.0|ICD10:D70.9|MESH:D009503|DOID:1227|SCTID:303011007|ICD9:288.00|HP:0001875|UMLS:C0027947 owl:Class HGNC:24229 biolink:NamedThing CIDEC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002052 biolink:NamedThing lymphadenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. tmpak2llvmy_mondo_relaxed.owl acute adenitis|chronic adenitis|lymphadenitis (disease)|Inflammation of lymph node|inflammation of lymph node|lymph node inflammation|lymph nodeitis|chronic lymphadenitis|acute lymphadenitis|lymphadenitis|adenitis|lymph gland infection lymphadenitis (disease) ICD9:289.1|UMLS:C0024205|SCTID:41174002|ICD9:683|HP:0002840|UMLS:C0154304|MESH:D008199|ICD10:L04|ICD10:L04.9|NCIT:C26821|DOID:1602|ICD10:I88.1|UMLS:C0157705|ICD10:I88.9 owl:Class UBERON:0002202 biolink:NamedThing submucosa of trachea A submucosa that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl trachea submucosa|tracheal submucosa|submucosa of windpipe|windpipe submucosa|submucous layer of trachea owl:Class HsapDv:0000092 biolink:NamedThing human middle aged stage Late adulthood that refers to an adult who is over 45 and under 65. tmpak2llvmy_mondo_relaxed.owl 45-64 years owl:Class MONDO:0000870 biolink:NamedThing childhood acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. tmpak2llvmy_mondo_relaxed.owl pediatric acute lymphoid leukemia|childhood acute lymphoid leukemia|pediatric ALL|pediatric acute lymphoblastic leukemia|childhood acute lymphogenous leukemia|pediatric acute lymphocytic leukemia|childhood ALL|childhood acute lymphocytic leukemia|pediatric acute lymphogenous leukemia|childhood acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|pediatric acute lymphocytic leukemia (ALL)|childhood precursor lymphoblastic leukemia DOID:0080144|GARD:0009240|NCIT:C3168 https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia owl:Class MONDO:0003659 biolink:NamedThing pediatric lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood lymphoma|lymphoma|pediatric lymphoma NCIT:C5165|DOID:5823|UMLS:C1332979 owl:Class MONDO:0023833 biolink:NamedThing multifocal choroiditis Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. tmpak2llvmy_mondo_relaxed.owl SCTID:414783007|GARD:0009824|UMLS:C1533060|MESH:C537374 https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis owl:Class MONDO:0001280 biolink:NamedThing choroiditis An inflammatory process that affects the choroid. tmpak2llvmy_mondo_relaxed.owl posterior uveitis (disease)|Choroiditides|posterior uveitis|choroiditis GARD:0006062|ICD10:H30.2|ICD10:H30.0|MedDRA:10036370|NCIT:C35111|Orphanet:280892|ICD10:H30.8|ICD10:H30.1|DOID:11406|SCTID:16553002|MESH:D002833|ICD10:H30.9|UMLS:C0008526|UMLS:C0042167|HP:0012123 owl:Class HP:0001508 biolink:NamedThing Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. tmpak2llvmy_mondo_relaxed.owl Undergrowth|Poor weight gain|Faltering weight|Weight faltering|Postnatal failure to thrive SNOMEDCT_US:432788009|SNOMEDCT_US:36440009|UMLS:C2315100|UMLS:C0231246 Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). HP:0008853|HP:0008878|HP:0001535|HP:0008916 human_phenotype owl:Class HP:0004325 biolink:NamedThing Decreased body weight Abnormally low body weight. tmpak2llvmy_mondo_relaxed.owl Decreased weight|Low weight|Decreased body weight|Low body weight|Weight less than 3rd percentile UMLS:C1844806|SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:89362005|MSH:D015431|SNOMEDCT_US:262285001|UMLS:C0041667|MSH:D013851|SNOMEDCT_US:248342006 peter 2008-02-27T03:22:00Z HP:0001823|HP:0001826 human_phenotype owl:Class MONDO:0003717 biolink:NamedThing renal pelvis papillary tumor A papillary tumor originating in the renal pelvis. tmpak2llvmy_mondo_relaxed.owl renal pelvis papillary urothelial neoplasm|papillary neoplasm of renal pelvis|renal pelvis papillary tumor|papillary neoplasm of the renal pelvis|papillary tumor of the renal pelvis|papillary tumor of renal pelvis UMLS:C0853688|NCIT:C8603|DOID:5975 owl:Class MONDO:0003443 biolink:NamedThing papillary urothelial neoplasm A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 tmpak2llvmy_mondo_relaxed.owl urothelium papillary epithelial neoplasm|urinary tract papillary transitional cell neoplasm|papillary transitional cell neoplasm of the urinary tract|urinary tract papillary transitional cell benign neoplasm|papillary urothelial neoplasm|inverted papilloma of urinary tract NCIT:C27883|UMLS:C1335329|DOID:5433 owl:Class MONDO:0044781 biolink:NamedThing nephrotic syndrome of childhood - steroid sensitive Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. tmpak2llvmy_mondo_relaxed.owl steroid-sensitive nephrotic syndrome|nephrotic syndrome of childhood - steroid sensitive|steroid-responsive nephrotic syndrome UMLS:C0403396|NCIT:C122797|SCTID:236380004 owl:Class MONDO:0044765 biolink:NamedThing steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, steroid-resistant, autosomal recessive|steroid-resistant nephrotic syndrome|nephrotic syndrome of childhood - steroid resistant|steroid-unresponsive nephrotic syndrome|SRNS - steroid-resistant nephrotic syndrome|nephrotic syndrome-steroid-resistant|NPHS2|nephrotic syndrome, idiopathic, steroid-resistant UMLS:CN034406|NCIT:C122798|SCTID:236381000|GTR:AN0255485|GTR:AN0200342|GTR:AN0096391|GTR:AN0096395 owl:Class MONDO:0017405 biolink:NamedThing 1p21.3 microdeletion syndrome 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. tmpak2llvmy_mondo_relaxed.owl monosomy 1p21.3|Del(1)p(21.3) ICD10:Q93.5|UMLS:CN203152|SCTID:719600006|Orphanet:293948|UMLS:C4304578 owl:Class CL:0000838 biolink:NamedThing lymphoid lineage restricted progenitor cell A progenitor cell restricted to the lymphoid lineage. tmpak2llvmy_mondo_relaxed.owl lymphoid progenitor cell FMA:70338|BTO:0004731|CALOHA:TS-2025 Note that this is a class of cell types, not an identified single cell type. cell owl:Class CL:0002031 biolink:NamedThing hematopoietic lineage restricted progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-01-06T03:43:20Z cell owl:Class MONDO:0015056 biolink:NamedThing acquired angioedema type 1 Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl acquired angioneurotic edema type 1 UMLS:CN197348|ICD10:T78.3|Orphanet:100056 owl:Class MONDO:0019624 biolink:NamedThing acquired angioedema Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. tmpak2llvmy_mondo_relaxed.owl acquired angioedema|acquired angioneurotic edema|acquired non histamine-induced angioedema|acquired bradykinine-induced angioedema|angioedema, acquired|AAE|acquired C1 inhibitor deficiency GARD:0008605|Orphanet:91385|MESH:C538173|UMLS:C2931758|ICD10:T78.3 https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema owl:Class UBERON:0010394 biolink:NamedThing lymphocyte domain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017656 biolink:NamedThing motor stereotypies tmpak2llvmy_mondo_relaxed.owl Orphanet:306765 owl:Class HGNC:2932 biolink:NamedThing DMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004163 biolink:NamedThing bladder urachal urothelial carcinoma A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium. tmpak2llvmy_mondo_relaxed.owl bladder urachal urothelial carcinoma UMLS:C1511207|DOID:7244|NCIT:C39844 owl:Class HGNC:15954 biolink:NamedThing TOE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001856 biolink:NamedThing splenic artery aneurysm tmpak2llvmy_mondo_relaxed.owl SCTID:70405009|ICD9:442.83|DOID:14006|UMLS:C0155747 owl:Class MONDO:0044642 biolink:NamedThing c11orf73-related autosomal recessive hypomyelinating leukodystrophy tmpak2llvmy_mondo_relaxed.owl C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency Orphanet:495844 owl:Class UBERON:0005173 biolink:NamedThing abdominal segment element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. tmpak2llvmy_mondo_relaxed.owl abdominal segment organ owl:Class UBERON:0005177 biolink:NamedThing trunk region element An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. tmpak2llvmy_mondo_relaxed.owl trunk organ owl:Class GO:0040019 biolink:NamedThing positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development. tmpak2llvmy_mondo_relaxed.owl stimulation of embryonic development|activation of embryonic development|up regulation of embryonic development|upregulation of embryonic development|up-regulation of embryonic development owl:Class GO:0045995 biolink:NamedThing regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000988 biolink:NamedThing hematopoietic cell A cell of a hematopoietic lineage. tmpak2llvmy_mondo_relaxed.owl haemopoietic cell|hemopoietic cell|haematopoietic cell BTO:0000574|CALOHA:TS-2017|FMA:83598|FMA:70366 cell owl:Class HP:0012826 biolink:NamedThing Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081 PATO:0000395, moderate. peter 2014-06-06T06:48:12Z human_phenotype owl:Class HP:0012824 biolink:NamedThing Severity The intensity or degree of a manifestation. tmpak2llvmy_mondo_relaxed.owl Intensity UMLS:C0522510|SNOMEDCT_US:103370009 Synonymous with PATO:0000049, intensity. peter 2014-06-06T06:39:22Z human_phenotype owl:Class MONDO:0002307 biolink:NamedThing blepharoconjunctivitis Inflammation of both the eyelids and the conjunctiva. tmpak2llvmy_mondo_relaxed.owl SCTID:68659002|DOID:2456|NCIT:C34430|ICD9:372.20|UMLS:C0005743|ICD10:H10.50|ICD10:H10.5|ICD9:372.2 owl:Class UBERON:0008430 biolink:NamedThing lumbar vertebral foramen A vertebral foramen that is part of a lumbar vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:89593 biolink:NamedThing Craniata tmpak2llvmy_mondo_relaxed.owl Craniata GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7711 biolink:NamedThing Chordata tmpak2llvmy_mondo_relaxed.owl chordates GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018408 biolink:NamedThing cystic echinococcosis tmpak2llvmy_mondo_relaxed.owl echinococcus granulosus|Echinococcus granulosus infection of thyroid|liver echinococcus granulosus|lung echinococcus granulosus|Echinococcus granulosus infection|unilocular echinococcosis|echinococcus granulosus infectious disease of thyroid|unilocular hydatid disease|thyroid echinococcus granulosus|Echinococcus granulosus infectious disease of liver|Echinococcus granulosus infection of lung|hydatid disease|echinococcus granulosus infectious disease of liver|Hydatidosis ICD9:122.4|ICD10:B67.6|UMLS:C0153290|UMLS:C4303092|ICD10:B67.3|GARD:0002764|ICD10:B67.4|ICD10:B67.9|ICD10:B67.5|ICD10:B67.8|UMLS:C0153291|MedDRA:10014096|ICD10:B67.1|DOID:1495|ICD10:B67.7|SCTID:721822004|ICD10:B67.2|ICD10:B67.0|Orphanet:400 owl:Class MONDO:0044346 biolink:NamedThing echinococcus granulosus infectious disease An disease or disorder caused by infection with Echinococcus granulosus. tmpak2llvmy_mondo_relaxed.owl Echinococcus granulosus disease or disorder|Echinococcus granulosus infectious disease|Echinococcus granulosus caused disease or disorder|echinococcus granulosus infection|unilocular hydatid disease|echinococcus granulosus infectious disease SCTID:75006000|ICD9:122.3|UMLS:C0152068|ICD9:122.4 owl:Class MONDO:0002514 biolink:NamedThing hepatobiliary neoplasm A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. tmpak2llvmy_mondo_relaxed.owl tumor of hepatobiliary system|hepatobiliary benign neoplasm|hepatic, biliary, and gallbladder neoplasms|hepatic and biliary neoplasms|neoplasm of hepatobiliary system|hepatobiliary tumor|liver and biliary neoplasm|hepatobiliary system neoplasm|hepato-biliary neoplasm|hepato-biliary tumor|hepatobiliary neoplasm|hepatobiliary system tumor|hepatobiliary system neoplasm (disease)|hepatic and biliary tumors|hepatobiliary tumors|liver and biliary system neoplasm UMLS:C0854196|DOID:3117|NCIT:C8614|EFO:0008550 owl:Class MONDO:0016024 biolink:NamedThing shoulder and thorax deformity-congenital heart disease syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:1940 owl:Class MONDO:0006387 biolink:NamedThing primary pulmonary diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis. tmpak2llvmy_mondo_relaxed.owl primary pulmonary diffuse large B-cell lymphoma|high grade MALT lymphoma of the lung|pulmonary diffuse large B-cell lymphoma|lung diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of lung UMLS:C1709666|NCIT:C45605|EFO:1000495 owl:Class MONDO:0020644 biolink:NamedThing lung non-Hodgkin lymphoma A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma. tmpak2llvmy_mondo_relaxed.owl lung non-Hodgkin's lymphoma|primary lung non-Hodgkin's lymphoma|non-Hodgkin lymphoma of lung|lung non-Hodgkin lymphoma UMLS:C1334453|NCIT:C5684 owl:Class MONDO:0008031 biolink:NamedThing facioscapulohumeral muscular dystrophy 2 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene. tmpak2llvmy_mondo_relaxed.owl facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1|Fshd2, digenic|FSHD2|facioscapulohumeral muscular dystrophy type 2|facioscapulohumeral muscular dystrophy 2, digenic|SMCHD1 facioscapulohumeral muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1B|muscular dystrophy, facioscapulohumeral, type 2|facioscapulohumeral muscular dystrophy 2 DOID:0111193|NCIT:C172705|MESH:C563557|UMLS:C1834671|OMIM:158901 owl:Class MONDO:0001347 biolink:NamedThing facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. tmpak2llvmy_mondo_relaxed.owl Landouzy Dejerine muscular dystrophy|facioscapulohumeral dystrophy|facioscapulohumeral myopathy|muscular dystrophy, Landouzy-Dejerine|FSHD|Landouzy-Dejerine myopathy|facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|FSH dystrophy ICD10:G71.0|DOID:11727|OMIMPS:158900|SCTID:399091004|Orphanet:269|NCIT:C84704|MESH:D020391|MedDRA:10064087 owl:Class MONDO:0000551 biolink:NamedThing retroperitoneal neuroblastoma A neuroblastoma that involves the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl retroperitoneal space neuroblastoma|neuroblastoma of retroperitoneal space DOID:0050937 owl:Class MONDO:0024645 biolink:NamedThing retroperitoneal neoplasm A benign or malignant neoplasm that affects the retroperitoneum. tmpak2llvmy_mondo_relaxed.owl tumor of retroperitoneal space|retroperitoneal space tumor|retroperitoneal space neoplasm|neoplasm of retroperitoneal space|retroperitoneal neoplasm NCIT:C3357 owl:Class MONDO:0015484 biolink:NamedThing cysticercosis Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. tmpak2llvmy_mondo_relaxed.owl tapeworm infection: [intestinal taenia solium] or [pork]|pork tapeworm infection|intestinal taenia solium infection|tapeworm infection: pork|tapeworm infection: intestinal taenia solum|tenia solium infectious disease|neurocysticercosis ICD10:B69.1|NCIT:C34520|EFO:0007231|ICD10:B69|UMLS:C0338437|Orphanet:1560|ICD9:123.1|GARD:0008194|UMLS:C0010678|MESH:D003551|DOID:10079|MedDRA:10011775|ICD10:B69.0|ICD10:B69.9|ICD10:B69.8|SCTID:59051007 owl:Class GO:1901856 biolink:NamedThing negative regulation of cellular respiration Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration. tmpak2llvmy_mondo_relaxed.owl inhibition of respiration|down regulation of oxidative metabolism|inhibition of cellular respiration|downregulation of oxidative metabolism|negative regulation of oxidative metabolic process|down-regulation of respiration|negative regulation of oxidative metabolism|down-regulation of cellular respiration|down-regulation of oxidative metabolism|inhibition of oxidative metabolic process|downregulation of respiration|downregulation of oxidative metabolic process|inhibition of oxidative metabolism|down regulation of oxidative metabolic process|down regulation of cellular respiration|down-regulation of oxidative metabolic process|downregulation of cellular respiration|negative regulation of respiration|down regulation of respiration owl:Class GO:0002716 biolink:NamedThing negative regulation of natural killer cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl negative regulation of NK cell mediated immunity|down regulation of natural killer cell mediated immunity|negative regulation of NK cell activity|negative regulation of natural killer cell activity|downregulation of natural killer cell mediated immunity|down-regulation of natural killer cell mediated immunity|inhibition of natural killer cell mediated immunity owl:Class MONDO:0004124 biolink:NamedThing prostate stromal sarcoma A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. tmpak2llvmy_mondo_relaxed.owl prostate stromal sarcoma|stromal sarcoma of the prostate|stromal sarcoma of prostate UMLS:C1335521|DOID:7152|NCIT:C5524 owl:Class MONDO:0002854 biolink:NamedThing prostate sarcoma A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the prostate|sarcoma of prostate|prostate sarcoma|prostate gland sarcoma|sarcoma of prostate gland UMLS:C0238393|DOID:4054|NCIT:C7731 owl:Class MONDO:0009833 biolink:NamedThing Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. tmpak2llvmy_mondo_relaxed.owl congenital lipomatosis of pancreas|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome|Shwachman-Bodian-Diamond syndrome|Schwachman-Diamond syndrome|pancreatic insufficiency and bone marrow dysfunction|SDS|Shwachman-Diamond type metaphyseal dysplasia|Schwachmann-Diamond syndrome|Shwachman syndrome|lipomatosis of pancreas, congenital MESH:C537330|MedDRA:10067940|ICD10:D61.0|GARD:0004863|SCTID:89454001|OMIMPS:260400|NCIT:C61235|DOID:0080023|DOID:0060479|Orphanet:811 MONDO:0000843 https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome owl:Class NCIT:C36104 biolink:NamedThing Aggressive Clinical Course tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C35461 biolink:NamedThing Clinical Course of Disease tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004634 biolink:NamedThing phosphopyruvate hydratase activity Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. tmpak2llvmy_mondo_relaxed.owl nervous-system specific enolase|2-phospho-D-glycerate-hydrolase activity|enolase activity|14-3-2-protein|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)|gamma-enolase activity|2-phosphoglycerate enolase activity|2-phosphoglycerate dehydratase activity|phosphoenolpyruvate hydratase activity|2-phosphoglyceric dehydratase activity|2-phospho-D-glycerate hydro-lyase activity owl:Class CHEBI:33848 biolink:NamedThing polycyclic arene A polycyclic aromatic hydrocarbon. tmpak2llvmy_mondo_relaxed.owl PAHs|polycyclic aromatic hydrocarbons|polycyclic arenes|PAH owl:Class CHEBI:33666 biolink:NamedThing polycyclic hydrocarbon tmpak2llvmy_mondo_relaxed.owl polycyclic hydrocarbon|polycyclic hydrocarbons owl:Class MONDO:0016805 biolink:NamedThing isolated oxidative phosphorylation complex disorder tmpak2llvmy_mondo_relaxed.owl isolated respiratory chain complex disorder Orphanet:254846|UMLS:CN227005 owl:Class MONDO:0010239 biolink:NamedThing lissencephaly type 1 due to doublecortin gene mutation Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. tmpak2llvmy_mondo_relaxed.owl subcortical band heterotopia, X-linked|subcortical laminar heterotopia, X-linked,|Dc syndrome|subcortical laminar heterotopia, X-linked|X-linked lissencephaly|LISX|lissencephaly and agenesis of corpus callosum|Xlis|lissencephaly, X-linked, 1|lissencephaly X-linked|X-linked lissencephaly type 1|XLIS|Double cortex syndrome|lissencephaly type 1 due to doublecortin gene mutation|LISX1|lissencephaly, X-linked, type 1 GARD:0006914|SCTID:715780008|UMLS:C1848199|UMLS:C4275012|ICD10:Q04.3|Orphanet:2148|OMIM:300067 https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked owl:Class MONDO:0100277 biolink:NamedThing disorder of peroxisomal alpha oxidation Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion. tmpak2llvmy_mondo_relaxed.owl disorder of peroxisomal alpha oxidation http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100257 biolink:NamedThing peroxisomal single enzyme/protein defect Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. tmpak2llvmy_mondo_relaxed.owl peroxisomal single enzyme/protein defect http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:17966 biolink:NamedThing CEP83 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050790 biolink:NamedThing regulation of catalytic activity Any process that modulates the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl regulation of enzyme activity|regulation of metalloenzyme activity owl:Class GO:0001912 biolink:NamedThing positive regulation of leukocyte mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. tmpak2llvmy_mondo_relaxed.owl activation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity owl:Class GO:0002705 biolink:NamedThing positive regulation of leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl activation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity|up-regulation of leukocyte mediated immunity|upregulation of leukocyte mediated immunity|positive regulation of leucocyte mediated immunity|up regulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity owl:Class MONDO:0007761 biolink:NamedThing hyperlipoproteinemia type IV A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. tmpak2llvmy_mondo_relaxed.owl Fredrickson type IV hyperlipoproteinemia|hyperlipoproteinemia type 4|hyperlipoproteinemia, type IV|familial hypertriglyceridemia|familial type IV hyperlipoproteinemia|VLDL hyperlipoproteinemia|Fredrickson type IV lipidaemia|hyperlipoproteinemia, type 4|carbohydrate-inducible hyperlipemia|carbohydrate inducible hyperlipemia|Fredrickson type IV Lipidemia|endogenous hyperlipidaemia MESH:D006953|GARD:0006418|SCTID:238085009|DOID:1172|OMIM:144600|ICD9:272.1|UMLS:CN074246|ICD10:E78.1 https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 owl:Class MONDO:0015571 biolink:NamedThing deletion 5q35 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. tmpak2llvmy_mondo_relaxed.owl distal 5q deletion|Del (5)(q35)|monosomy 5q35|Del (5)(qter)|deletion type 5q35|telomeric deletion 5q MESH:C537647|Orphanet:1627|ICD10:Q93.5|SCTID:721158009 owl:Class HGNC:8885 biolink:NamedThing PGA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030604 biolink:NamedThing cystic partially differentiated nephroblastoma A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. tmpak2llvmy_mondo_relaxed.owl malignant cystic nephroma|cystic partially differentiated nephroblastoma|malignant multilocular cystic nephroma UMLS:C1266139|ICDO:8959/1|NCIT:C6897|DOID:7571|ICDO:8959/3 owl:Class MONDO:0004356 biolink:NamedThing childhood multilocular cystic kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. tmpak2llvmy_mondo_relaxed.owl pediatric multilocular cystic kidney neoplasm|childhood multilocular cystic renal neoplasm|pediatric multilocular cystic renal tumor|childhood multilocular cystic kidney neoplasm|childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic kidney tumor|benign multilocular cystic renal tumor UMLS:C1332983|DOID:7762|NCIT:C6566 owl:Class UBERON:0005928 biolink:NamedThing external naris A naris that provides one of the small external openings of the head that give passage to air for breathing. tmpak2llvmy_mondo_relaxed.owl anterior nares|anterior naris|external nares|blowhole|naris|nostril owl:Class UBERON:0000003 biolink:NamedThing naris Orifice of the olfactory system. The naris is the route by which odorants enter the olfactory system[MAH]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000477 biolink:NamedThing focal dystonia A dystonia that is localized to a specific part of the body. tmpak2llvmy_mondo_relaxed.owl UMLS:C0743332|DOID:0050836|SCTID:445006008 owl:Class UBERON:0001652 biolink:NamedThing left pulmonary artery The pulmonary artery that supplies the left lung. tmpak2llvmy_mondo_relaxed.owl left pulmonary arterial tree|arteria pulmonalis sinistra|left main pulmonary artery owl:Class UBERON:0010714 biolink:NamedThing iliac cartilage element A iliac endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl iliac cartilage condensation owl:Class UBERON:0007159 biolink:NamedThing lumen of colon An anatomical cavity that surrounded_by a colon. tmpak2llvmy_mondo_relaxed.owl colonic lumen|colon lumen owl:Class UBERON:0005956 biolink:NamedThing outflow part of left ventricle Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. tmpak2llvmy_mondo_relaxed.owl heart left ventricle outflow tract|vestibulum aortae|Sibson vestibule|LVOT|left ventricular outflow tract|aortic vestibule|outflow tract of left ventricle|left ventricular outflow owl:Class UBERON:0005337 biolink:NamedThing outflow tract of ventricle A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. tmpak2llvmy_mondo_relaxed.owl ventricular outflow tract|heart ventricle outflow tract|outflow part of ventricle owl:Class UBERON:0004794 biolink:NamedThing esophagus secretion A secretion that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl esophageal secretion|gullet secretion|oesophagus secretion|secretion of oesophagus|secretion of esophagus|secretion of gullet owl:Class CHEBI:74818 biolink:NamedThing heteroaryl hydroxy compound Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring. tmpak2llvmy_mondo_relaxed.owl heteroaromatic hydroxy compound|hetaryl hydroxy compounds|hetaryl hydroxy compound|heteroaromatic hydroxy compounds|heteroaryl hydroxy compounds owl:Class GO:0042698 biolink:NamedThing ovulation cycle The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003428 biolink:NamedThing brain hemangioma A hemangioma arising from the brain. tmpak2llvmy_mondo_relaxed.owl brain hemangioma|brain angioma DOID:5393|NCIT:C7739|UMLS:C0238814 owl:Class MONDO:0017389 biolink:NamedThing tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. tmpak2llvmy_mondo_relaxed.owl tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria|BH4-responsive HPA/PKU ICD10:E70.1|Orphanet:293284 owl:Class MONDO:0009861 biolink:NamedThing phenylketonuria Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. tmpak2llvmy_mondo_relaxed.owl Folling's syndrome|phenylpyruvic oligophrenia|PAH deficiency|Følling's disease|hyperphenylalaninemia, non-PKU mild|phenylketonuria|phenylalaninemia|PKU|Folling disease|phenylalanine hydroxylase deficiency|phenylketonuria, maternal|imbecilitus phenylpyruvica|oligophrenia phenylpyruvica|pah deficiency|HPA, non-PKU mild|Pah deficiency|Folling's disease|oligophrenia Phenylpyruvica DOID:9281|UMLS:C0031485|MESH:D010661|GARD:0007383|Orphanet:716|OMIM:261600|SCTID:7573000|NCIT:C81315|MedDRA:10034872|ICD10:E70.1|ICD9:270.1|ICD10:E70.0 owl:Class HP:0000002 biolink:NamedThing Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. tmpak2llvmy_mondo_relaxed.owl Abnormality of body height UMLS:C4025901 peter 2008-02-27T02:20:00Z human_phenotype owl:Class HP:0001507 biolink:NamedThing Growth abnormality tmpak2llvmy_mondo_relaxed.owl Growth issue|Abnormal growth|Growth abnormality UMLS:C0262361 HP:0008904 human_phenotype owl:Class MONDO:0019023 biolink:NamedThing cutaneous mastocytosis Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. tmpak2llvmy_mondo_relaxed.owl CM|cutaneous mastocytosis|CMCD|cutaneous (skin) mastocytosis|cutaneous mastocytosis (disease) ICDO:9740/1|SCTID:397012002|DOID:3663|HP:0200151|MESH:D034701|GARD:0007842|UMLS:C1136033|EFO:1000886|ICD10:Q82.2|ONCOTREE:CMCD|Orphanet:66646|NCIT:C7137 owl:Class MONDO:0005492 biolink:NamedThing urticaria A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. tmpak2llvmy_mondo_relaxed.owl urticaria|urticaria (disease)|Urticarias|hives urticaria (disease) ICD9:708.9|UMLS:C0042109|EFO:0005531|SCTID:126485001|HP:0001025|NCIT:C3432|ICD10:L50|MESH:D014581|DOID:1555|ICD9:708.8|ICD9:708 owl:Class MONDO:0032933 biolink:NamedThing chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant tmpak2llvmy_mondo_relaxed.owl CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT OMIM:618815 owl:Class MONDO:0006669 biolink:NamedThing bacterial endocarditis Endocarditis that is caused by an infection with a bacterial agent. tmpak2llvmy_mondo_relaxed.owl bacterial endocarditis|Bacteria caused endocarditis (disease)|bacterial endocarditis (disease)|Bacteria endocarditis (disease) bacterial endocarditis (disease) MedDRA:10004019|SCTID:301183007|MESH:D004697|EFO:1000830|UMLS:C0014121|NCIT:C128359|HP:0006689 owl:Class MONDO:0009478 biolink:NamedThing combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). tmpak2llvmy_mondo_relaxed.owl AR-HIES|DOCK8 immunodeficiency syndrome|AR hyperimmunoglobulin E syndrome|HIES, autosomal recessive|hyper-IgE syndrome, autosomal recessive|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|HIES autosomal recessive|autosomal recessive hyper IgE syndrome|Cid due to DOCK8 deficiency|DOCK8 deficiency|dedicator of cytokinesis 8 deficiency|hyper Ig E syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|combined immunodeficiency due to DOCK8 deficiency|hyper-IgE recurrent infection syndrome, autosomal recessive ICD10:D81.1|OMIM:243700|UMLS:C1968689|Orphanet:217390|NCIT:C126343|GARD:0002816 https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome owl:Class MONDO:0018037 biolink:NamedThing hyper-IgE syndrome A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. tmpak2llvmy_mondo_relaxed.owl HIES|hyperimmunoglobulin E syndrome|hyper-IgE recurrent infection syndrome ICD10:D82.4|OMIMPS:147060|Orphanet:331223|NCIT:C3144|GARD:0010956|UMLS:CN204280|DOID:0080545 owl:Class GO:0002381 biolink:NamedThing immunoglobulin production involved in immunoglobulin-mediated immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl immunoglobulin production involved in immunoglobulin mediated immune response|antibody production during immune response|immunoglobulin secretion involved in immune response|immunoglobulin biosynthetic process involved in immune response|immunoglobulin production during immune response|antibody secretion during immune response|immunoglobulin production involved in immune response owl:Class GO:0002377 biolink:NamedThing immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl immunoglobulin secretion|immunoglobulin biosynthetic process|antibody production owl:Class MONDO:0019362 biolink:NamedThing epidemic louse-borne typhus A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. tmpak2llvmy_mondo_relaxed.owl epidemic typhus fever|epidemic louse-borne typhus|sylvatic typhus|typhus|epidemic typhus ICD10:A75.0|MedDRA:10014979|Orphanet:83314|NCIT:C84689|DOID:0050480 owl:Class UBERON:0004222 biolink:NamedThing stomach smooth muscle A portion of smooth muscle tissue that is part of a stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of ventriculus|smooth muscle of stomach|gastric muscle|stomach involuntary muscle|non-striated muscle of ventriculus|non-striated muscle of stomach|stomach smooth muscle tissue|stomach non-striated muscle|gastric smooth muscle|smooth muscle tissue of ventriculus|smooth muscle tissue of stomach|ventriculus non-striated muscle|ventriculus smooth muscle|ventriculus involuntary muscle|stomach muscle|ventriculus smooth muscle tissue|smooth muscle of ventriculus|involuntary muscle of stomach owl:Class UBERON:0004226 biolink:NamedThing gastrointestinal system smooth muscle A portion of smooth muscle tissue that is part of a digestive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of gastrointestinal system owl:Class MONDO:0013279 biolink:NamedThing long QT syndrome 13 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome 13|long QT syndrome caused by mutation in KCNJ5|KCNJ5 long QT syndrome|long QT syndrome type 13|LQT13 DOID:0110654|OMIM:613485|ICD10:I45.8|UMLS:C3150733 owl:Class MONDO:0017518 biolink:NamedThing brachydactyly of toes, bilateral tmpak2llvmy_mondo_relaxed.owl short toes, bilateral ICD10:Q72.8|Orphanet:295134 owl:Class MONDO:0017452 biolink:NamedThing non-syndromic brachydactyly of toes A non-syndromic brachydactyly that involves the pes. tmpak2llvmy_mondo_relaxed.owl pes non-syndromic brachydactyly|short toes|non-syndromic brachydactyly of pes ICD10:Q72.8|ICD9:755.66|SCTID:205346006|Orphanet:294998 owl:Class MONDO:0012366 biolink:NamedThing gallbladder disease 3 tmpak2llvmy_mondo_relaxed.owl gallbladder disease 3|GBD3 OMIM:609919|MESH:C563686|UMLS:C1835924 owl:Class MONDO:0005281 biolink:NamedThing gallbladder disease A disease involving the gall bladder. tmpak2llvmy_mondo_relaxed.owl gallbladder disorder|Gall bladder disorder|disorder of gall bladder|disease or disorder of gall bladder|gall bladder disease|disease of gall bladder|gall bladder disease or disorder ICD10:K82.9|SCTID:39621005|DOID:0060262|ICD10:K82|UMLS:C0016977|OMIMPS:600803|NCIT:C34631|EFO:0003832|ICD9:575.9|ICD9:575.8|MESH:D005705 owl:Class MONDO:0013488 biolink:NamedThing lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis tmpak2llvmy_mondo_relaxed.owl lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis|APLDC3|lipodystrophy, partial, acquired, associated with C3 nephritic Factor OMIM:613913|UMLS:C3151347 owl:Class MONDO:0003411 biolink:NamedThing breast hemangiopericytoma A hemangiopericytoma arising from the breast. tmpak2llvmy_mondo_relaxed.owl breast spindle cell tumor|breast hemangiopericytoma DOID:5370|UMLS:C1511313|NCIT:C40396 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0005094 biolink:NamedThing hemangiopericytoma An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. tmpak2llvmy_mondo_relaxed.owl haemangiopericytic meningioma [obs]|haemangiopericytic meningioma|hemangiopericytoma, malignant (morphologic abnormality)|hemangiopericytoma|malignant hemangiopericytoma ICDO:9150/1|NCIT:C3087|MESH:D006393|SCTID:134335004|DOID:264 owl:Class HP:0012823 biolink:NamedThing Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. tmpak2llvmy_mondo_relaxed.owl Phenotypic modifier UMLS:C4021064 Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. peter 2014-06-06T06:34:24Z HP:0000004 human_phenotype owl:Class MONDO:0033552 biolink:NamedThing blood group, lewis system tmpak2llvmy_mondo_relaxed.owl BLOOD GROUP, LEWIS SYSTEM|Lewis-Negative Phenotype|Lewis Blood Group System|LE OMIM:618983 owl:Class MONDO:0013280 biolink:NamedThing myxoid liposarcoma A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. tmpak2llvmy_mondo_relaxed.owl myxoid liposarcoma|mixed-type liposarcoma|myxoid liposarcoma (morphologic abnormality)|myxoid/round cell liposarcoma|Myxoliposarcoma GARD:0007157|OMIM:613488|ICDO:8852/3|DOID:5709|DOID:5363|MESH:D018208|ICD9:171.9|SCTID:404069006|EFO:0000613|NCIT:C27781 MONDO:0003597 owl:Class UBERON:0035041 biolink:NamedThing deep temporal artery The deep temporal arteries, two in number, anterior and posterior, ascend between the Temporalis and the pericranium. They supply the muscle, and anastomose with the middle temporal artery. The anterior communicates with the lacrimal artery by means of small branches which perforate the zygomatic bone and great wing of the sphenoid. tmpak2llvmy_mondo_relaxed.owl anterior deep temporal artery|deep temporal arteries|deep temporal artery|posterior deep temporal artery|deep temporal branches owl:Class UBERON:0001632 biolink:NamedThing temporal artery tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016683 biolink:NamedThing gliomatosis cerebri A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) tmpak2llvmy_mondo_relaxed.owl gliomatosis|astrocytosis cerebri|gliomatosis cerebri|gliomatosis cerebri (morphologic abnormality) UMLS:C0334576|MedDRA:10066254|ICD10:C71.0|Orphanet:251582|GARD:0006514|DOID:6128|NCIT:C4318|ICDO:9381/3 https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri owl:Class MONDO:0016680 biolink:NamedThing high grade astrocytic tumor An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor). tmpak2llvmy_mondo_relaxed.owl high grade astrocytic neoplasm|high grade astrocytic tumor|high-grade astrocytoma|high-grade astrocytic neoplasm|high-grade astrocytic tumor Orphanet:251561|UMLS:C3640999|NCIT:C102897 owl:Class GO:0061308 biolink:NamedThing cardiac neural crest cell development involved in heart development The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014032 biolink:NamedThing neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030852 biolink:NamedThing regulation of granulocyte differentiation Any process that modulates the frequency, rate or extent of granulocyte differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004033 biolink:NamedThing familial ovarian carcinoma Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. tmpak2llvmy_mondo_relaxed.owl hereditary ovarian carcinoma|familiar ovarian carcinoma|familial ovarian carcinoma|hereditary ovarian cancer NCIT:C36102|UMLS:C1333992|DOID:6901 owl:Class MONDO:0005140 biolink:NamedThing ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 tmpak2llvmy_mondo_relaxed.owl carcinoma of the ovary|ovarian cancer|carcinoma of ovary|ovary carcinoma|epithelial ovarian cancer|ovarian epithelial cancer|ovarian carcinoma NCIT:C4908|EFO:0001075|DOID:4001 Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. owl:Class HGNC:6701 biolink:NamedThing LRPAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03420294 biolink:NamedThing fruit peel (anatomical part) The rind or skin of fruit tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03420110 biolink:NamedThing peel, core or seed tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010948 biolink:NamedThing cleidooccipital muscle A muscle organ that attaches_to a clavicle and attaches_to a occipital bone. tmpak2llvmy_mondo_relaxed.owl cleidooccipital|cleido-occipitalis muscle|cleido-occipitalis owl:Class MONDO:0018490 biolink:NamedThing cono-spondylar dysplasia Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. tmpak2llvmy_mondo_relaxed.owl short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome UMLS:CN237491|ICD10:Q77.7|Orphanet:420794|SCTID:766874001 owl:Class MONDO:0019423 biolink:NamedThing X-linked intellectual disability, Stoll type X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN206179|Orphanet:85326|SCTID:718911005 owl:Class MONDO:0020579 biolink:NamedThing mucositis Inflammation of the mucous membranes. tmpak2llvmy_mondo_relaxed.owl mucosa inflammation|mucositis|inflammation of mucosa NCIT:C115965 owl:Class MONDO:0001904 biolink:NamedThing polyneuropathy due to drug tmpak2llvmy_mondo_relaxed.owl DOID:14184|UMLS:C0154762|ICD9:357.6|SCTID:7339009|ICD10:G62.0 owl:Class GO:0060083 biolink:NamedThing smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body. tmpak2llvmy_mondo_relaxed.owl smooth muscle contraction involved in urination|urinary bladder smooth muscle contraction involved in micturition owl:Class GO:0014832 biolink:NamedThing urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002134 biolink:NamedThing tricuspid valve An atrioventricular valve that is part of the outflow part of the right atrium. tmpak2llvmy_mondo_relaxed.owl right atrioventricular valve|valvula tricuspidalis|valva atrioventricularis dextra owl:Class MONDO:0002633 biolink:NamedThing cranial nerve neoplasm Abnormal growth of the cells that comprise the cranial nerves. tmpak2llvmy_mondo_relaxed.owl cranial nerve neoplasms|cranial nerve tumor|neoplasm of the cranial nerve|tumor of the cranial nerve|neoplasm of cranial nerve|tumor of cranial nerve|cranial nerve neoplasm (disease)|cranial nerve neoplasm MESH:D003390|UMLS:C0010267|ICD9:239.7|DOID:338|SCTID:126966009|NCIT:C2963 owl:Class MONDO:0003551 biolink:NamedThing thymic adenosquamous carcinoma A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. tmpak2llvmy_mondo_relaxed.owl thymus adenosquamous carcinoma|Thymus adenosquamous carcinoma|adenosquamous carcinoma of Thymus|thymic adenosquamous carcinoma|adenosquamous carcinoma of the Thymus NCIT:C6458|DOID:5626|UMLS:C1332171 owl:Class MONDO:0020099 biolink:NamedThing inherited sideroblastic anemia tmpak2llvmy_mondo_relaxed.owl constitutional sideroblastic anemia ICD10:D64.0|Orphanet:98362|OMIMPS:300751 We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. https://github.com/monarch-initiative/mondo/pull/2076 owl:Class HGNC:11727 biolink:NamedThing TERC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007990 biolink:NamedThing multiple benign circumferential skin creases on limbs tmpak2llvmy_mondo_relaxed.owl circumferential skin creases, Kunze type|Kunze Riehm syndrome|Michelin tire baby syndrome|Kunze-Riehm syndrome|CSCSC|skin creases, multiple benign ring-shaped, of limbs|CCSF|congenital circumferential skin folds ICD10:Q82.8|UMLS:C0473586|Orphanet:2505|GARD:0003589|MESH:C537575 owl:Class MONDO:0013984 biolink:NamedThing autosomal recessive nonsyndromic deafness 84B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 84B|autosomal recessive deafness 84B|autosomal recessive nonsyndromic deafness type 84B|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|deafness, autosomal recessive 84B|OTOGL autosomal recessive nonsyndromic deafness|DFNB84B|deafness, autosomal recessive type 84B ICD10:H90.3|UMLS:C3554159|DOID:0110530|OMIM:614944 owl:Class MONDO:0020226 biolink:NamedThing chromosomal anomaly with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98642 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: chromosomal disorder' MONDO_0019040 owl:Class MONDO:0007832 biolink:NamedThing interferon antiviral depressor tmpak2llvmy_mondo_relaxed.owl interferon antiviral depressor OMIM:147560 owl:Class CL:0002064 biolink:NamedThing pancreatic acinar cell A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules. tmpak2llvmy_mondo_relaxed.owl acinar cell of pancreas FMA:63032|BTO:0000028|CALOHA:TS-0737 tmeehan 2010-06-24T03:16:29Z cell owl:Class MONDO:0000816 biolink:NamedThing abdominal obesity-metabolic syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C535554|UMLS:C2930930|OMIMPS:605552|DOID:0060611 owl:Class UBERON:0011299 biolink:NamedThing white matter of telencephalon A partion of white matter that is part of a telencephalon. This can be further subdivided in some species, for example, into hemisphere white matter and the corpus callosum. tmpak2llvmy_mondo_relaxed.owl predominantly white regional part of telencephalon|telencephalic white matter|telencephalic tract/commissure|telencephalic tracts owl:Class HGNC:31371 biolink:NamedThing GPR179 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007124 biolink:NamedThing ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. tmpak2llvmy_mondo_relaxed.owl cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|ankyloblepharon ectodermal defects cleft lip/palate|ankyloblepharon-ectodermal defects-cleft LIP/palate|Rapp-Hodgkins syndrome|hay-Wells syndrome|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|AEC syndrome|Aec syndrome|Seres-Santamaria Arimany Muniz syndrome OMIM:106260|ICD10:Q82.4|DOID:0090119|GARD:0006571|Orphanet:1071|GARD:0004805|SCTID:55821006|MESH:C535847 owl:Class UBERON:0003833 biolink:NamedThing abdominal segment muscle A muscle organ that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdominal segment of trunk muscle organ|muscle organ of abdominal segment of trunk owl:Class MONDO:0002158 biolink:NamedThing fallopian tube cancer A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl fallopian tube cancer|tubal cancer|malignant tumor of fallopian tube|tumor, fallopian tube, malignant|cancer of fallopian tubes|malignant tumor of fallopian tubes|malignant fallopian tube neoplasm|malignant tumour of fallopian tube|fallopian tube malignant tumor|malignant neoplasm of the fallopian tube|malignant tubal tumor|malignant fallopian tube tumor|malignant neoplasm of fallopian tube|cancer of fallopian tube|fallopian tube malignant neoplasm|tumor of the fallopian tube|neoplasm, fallopian tube, malignant|malignant neoplasm of uterine tube|malignant tumor of the fallopian tube SCTID:363444001|UMLS:C0153579|ICD10:C57.0|MedDRA:10025915|GARD:0009162|UMLS:CN200469|NCIT:C7480|DOID:1964|ICD9:183.2|Orphanet:180242 owl:Class MONDO:0011546 biolink:NamedThing heterotaxy, visceral, 2, autosomal tmpak2llvmy_mondo_relaxed.owl HTX2|heterotaxy, visceral, 2, autosomal|transposition of the great arteries, dextro-looped 2|Htx|DTGA2 UMLS:C1415817|OMIM:605376 owl:Class MONDO:0000153 biolink:NamedThing transposition of the great arteries A congenital cardiac defect in which two heart vessels are reversed (transposed). tmpak2llvmy_mondo_relaxed.owl great vessels transposition|transposition of the great vessels|transposition of great vessels|TGA|complete transposition|TGV ICD10:Q20.3|Orphanet:216675|ICD10:Q20.5|NCIT:C84742|MESH:D014188 owl:Class MONDO:0003624 biolink:NamedThing acinic cell breast carcinoma A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. tmpak2llvmy_mondo_relaxed.owl breast carcinoma of acinar cell|acinar cell breast carcinoma|acinic cell breast carcinoma UMLS:C1515868|NCIT:C40367|DOID:5743 owl:Class MONDO:0004965 biolink:NamedThing acinar cell carcinoma A carcinoma that arises from epithelial cells of the acinar cell tmpak2llvmy_mondo_relaxed.owl acinar cell carcinoma (morphologic abnormality)|ACCC|carcinoma of acinar cell|acinic cell carcinoma|acinar adenocarcinoma|acinic cell tumor|acinar cell adenocarcinoma|acinar cell carcinoma|acinar carcinoma|acinic cell adenocarcinoma|carcinoma, acinar cell, malignant EFO:0000216|GARD:0008568|ONCOTREE:ACCC|UMLS:C0206685|MESH:D018267|ICDO:8550/3|NCIT:C3768|DOID:3025 owl:Class MONDO:0008012 biolink:NamedThing Monophalangy of great toe tmpak2llvmy_mondo_relaxed.owl Monophalangy of great toe OMIM:158100|UMLS:C1834753|MESH:C563570 owl:Class MONDO:0001915 biolink:NamedThing orbital cyst tmpak2llvmy_mondo_relaxed.owl orbit cyst UMLS:C0155285|HP:0001144|ICD9:376.81|ICD10:H05.81|DOID:14233|SCTID:31021007 Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666] owl:Class MONDO:0004751 biolink:NamedThing disease of orbital part of eye adnexa Diseases of the bony orbit and contents except the eyeball. tmpak2llvmy_mondo_relaxed.owl orbital disease ICD10:H05|MESH:D009916|DOID:930|ICD9:376.9|ICD9:376|ICD10:H05.9|UMLS:C0029182 Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa owl:Class MONDO:0004593 biolink:NamedThing Bartholin duct cyst Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. tmpak2llvmy_mondo_relaxed.owl cyst of Bartholin's gland|Bartholin's cyst|cyst of Bartholin's gland duct|Bartholin's duct cyst ICD9:616.2|SCTID:57044006|ICD10:N75.0|DOID:851|UMLS:C0004767 owl:Class NCBITaxon:5506 biolink:NamedThing Fusarium tmpak2llvmy_mondo_relaxed.owl Geejayessia|Bisifusarium|Haematonectria|Cyanonectria|Albonectria|Gibberella|Neocosmospora|Rectifusarium PMID:30728601|PMID:23379853|GC_ID:1|PMID:33200960 NCBITaxon:140105|NCBITaxon:1634940|NCBITaxon:342329|NCBITaxon:5126|NCBITaxon:40620 ncbi_taxonomy owl:Class NCBITaxon:110618 biolink:NamedThing Nectriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:307520 ncbi_taxonomy owl:Class MONDO:0013110 biolink:NamedThing neurodegenerative syndrome due to cerebral folate transport deficiency tmpak2llvmy_mondo_relaxed.owl neurodegenerative syndrome due to cerebral folate transport deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|cerebral folate deficiency syndrome|cerebral folate receptor alpha deficiency|cerebral folate transport deficiency Orphanet:217382|SCTID:711403001|ICD9:266.2|ICD10:G31.8|OMIM:613068|DOID:0050719|MESH:C567791|GARD:0010594 owl:Class HsapDv:0000107 biolink:NamedThing 13-year-old human stage Adolescent stage that refers to an adolescent who is over 13 and under 14 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042969 biolink:NamedThing partial duplication of the long arm of chromosome 12 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl 12q duplication|partial trisomy 12q|Duplication 12q|trisomy 12q|chromosome 12q duplication|12q trisomy UMLS:C0795846|MESH:C538300|GARD:0001926 owl:Class GO:0050922 biolink:NamedThing negative regulation of chemotaxis Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpak2llvmy_mondo_relaxed.owl down regulation of chemotaxis|downregulation of chemotaxis|inhibition of chemotaxis|down-regulation of chemotaxis owl:Class MONDO:0003752 biolink:NamedThing frontal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpak2llvmy_mondo_relaxed.owl Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus|frontal sinus Schneiderian papilloma UMLS:C1333645|NCIT:C6837|DOID:6054 owl:Class MONDO:0021483 biolink:NamedThing benign neoplasm of frontal sinus A benign neoplasm that involves the frontal sinus. tmpak2llvmy_mondo_relaxed.owl benign frontal sinus neoplasm|benign tumor of frontal sinus|benign neoplasm of the frontal sinus|frontal sinus benign neoplasm|benign frontal sinus tumor|benign tumor of the frontal sinus NCIT:C4420|SCTID:92115005|UMLS:C0345674|ICD9:212.0 owl:Class UBERON:0034719 biolink:NamedThing lip taste bud A taste bud that is located on a lip. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034717 biolink:NamedThing integumental taste bud A taste bud that is located external to the digestive tube, on the head or body, as found in species such as goldfish. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012478 biolink:NamedThing cloacal gland A gland that is part of a cloaca. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002530 biolink:NamedThing gland an organ that functions as a secretory or excretory organ tmpak2llvmy_mondo_relaxed.owl Druese|glandula|glandular organ owl:Class MONDO:0004869 biolink:NamedThing pelvic varices A varicose disease that involves the pelvic region of trunk. tmpak2llvmy_mondo_relaxed.owl varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease DOID:9742|SCTID:17406005|UMLS:C0155795|ICD10:I86.2|ICD9:456.5 owl:Class GO:0060556 biolink:NamedThing regulation of vitamin D biosynthetic process Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022636 biolink:NamedThing candida glabrata infection tmpak2llvmy_mondo_relaxed.owl Torulopsis glabrata (formerly)|candida glabrata GARD:0008171 https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata owl:Class MONDO:0012552 biolink:NamedThing multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. tmpak2llvmy_mondo_relaxed.owl CDKN1B multiple endocrine neoplasia|MEN4|multiple endocrine neoplasia, type 4|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia type 4|multiple endocrine neoplasia, type IV UMLS:C4274947|SCTID:715907003|DOID:0080137|MESH:C567059|UMLS:C1970712|Orphanet:276152|NCIT:C157449|ICD10:D44.8|OMIM:610755 owl:Class MONDO:0014975 biolink:NamedThing autosomal recessive spastic paraplegia type 78 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 78, autosomal recessive|SPG78|hereditary spastic paraplegia caused by mutation in ATP13A2|ATP13A2 hereditary spastic paraplegia|spastic paraplegia 78, autosomal recessive; SPG78 UMLS:C4310662|OMIM:617225|Orphanet:513436 owl:Class GO:0060761 biolink:NamedThing negative regulation of response to cytokine stimulus Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048585 biolink:NamedThing negative regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of response to stimulus|down-regulation of response to stimulus|down regulation of response to stimulus|downregulation of response to stimulus owl:Class MONDO:0010496 biolink:NamedThing X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked type 12|MRX12|mental retardation, X-linked 12|mental retardation, X-linked type 12|mental retardation, X-linked 35|intellectual disability, X-linked 35|intellectual disability, X-linked 12 Orphanet:457240|UMLS:C0796218|OMIM:300957 owl:Class MONDO:0007442 biolink:NamedThing dentinogenesis imperfecta type 3 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). tmpak2llvmy_mondo_relaxed.owl dentinogenesis imperfecta Shields type 3|DGI-III|dentinogenesis imperfecta, Shields type III|dentinogenesis imperfecta type III|dentinogenesis imperfecta, Shields type 3|brandywine type dentinogenesis imperfecta SCTID:234970006|ICD10:K00.5|OMIM:125500|GARD:0010144|MESH:C538216|Orphanet:166265|ICD9:520.5 https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 owl:Class MONDO:0018849 biolink:NamedThing dentinogenesis imperfecta Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. tmpak2llvmy_mondo_relaxed.owl dentinogenesis imperfecta (disease)|dentinogenesis imperfecta|opalescent teeth without OI|DGI without OI|DI|opalescent teeth without osteogenesis imperfecta|non-syndromic DGI|DGI|dentinogenesis imperfecta without osteogenesis imperfecta|non-syndromic dentinogenesis imperfecta dentinogenesis imperfecta (disease) ICD9:520.5|Orphanet:49042|DOID:4154|HP:0000703|MESH:D003811|NCIT:C84667|UMLS:C0011436|GARD:0006258|ICD10:K00.5|MedDRA:10054013|SCTID:196286005 owl:Class MONDO:0011151 biolink:NamedThing exudative vitreoretinopathy 4 tmpak2llvmy_mondo_relaxed.owl EVR4|exudative vitreoretinopathy 4|exudative vitreoretinopathy type 4 DOID:0111411|OMIM:601813|UMLS:C1866176|MESH:C566619 owl:Class MONDO:0008722 biolink:NamedThing short chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. tmpak2llvmy_mondo_relaxed.owl SCADD|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|Acads deficiency|acyl-CoA dehydrogenase, short-chain, deficiency OF|acyl-CoA dehydrogenase, short-chain deficiency|Scadh deficiency|short-chain acyl-CoA dehydrogenase deficiency|ACADSD|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|SCAD deficiency|ACADS deficiency|SCAD|short-chain acyl-coenzyme A dehydrogenase deficiency|Scad deficiency|short chain acyl-CoA dehydrogenase deficiency|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency GARD:0004822|NCIT:C84539|MESH:C537596|Orphanet:26792|ICD10:E71.3|DOID:0080154|OMIM:201470|ICD10:E71.312 https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency owl:Class MONDO:0007289 biolink:NamedThing cataract 13 with adult I phenotype A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. tmpak2llvmy_mondo_relaxed.owl cataract 13 with adult I phenotype|CTRCT13|cataract 13 with ADULT I phenotype DOID:0110242|ICD10:Q12.0|OMIM:116700|UMLS:C3805373 Not in the OMIM series. owl:Class MONDO:0018569 biolink:NamedThing X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237580|Orphanet:435938|ICD10:Q87.8 owl:Class MONDO:0012743 biolink:NamedThing Brugada syndrome 4 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. tmpak2llvmy_mondo_relaxed.owl Brugada syndrome caused by mutation in CACNB2|Brugada syndrome type 4|CACNB2 Brugada syndrome|Brugada syndrome 4|BRGDA4 ICD10:I49.8|OMIM:611876|DOID:0110221|MESH:C567508|UMLS:C2678477|GARD:0010362 https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4 owl:Class MONDO:0009173 biolink:NamedThing congenital enteropathy due to enteropeptidase deficiency Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. tmpak2llvmy_mondo_relaxed.owl enterokinase deficiency|congenital enterokinase deficiency|enteropeptidase deficiency Orphanet:168601|OMIM:226200|ICD9:277.89|DOID:0111667|MESH:C562649|SCTID:190952002|ICD10:K90.8|UMLS:C0268416 owl:Class GO:0019400 biolink:NamedThing alditol metabolic process The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. tmpak2llvmy_mondo_relaxed.owl alditol metabolism owl:Class MONDO:0010836 biolink:NamedThing nanophthalmos 1 tmpak2llvmy_mondo_relaxed.owl Nanophthalmia 1|NNO1|nanophthalmos 1|nanophthalmos with high hyperopia and angle-closure glaucoma|nanophthalmos, autosomal dominant|microphthalmos, simple, autosomal dominant MESH:C563983|UMLS:C1838502|OMIM:600165 owl:Class MONDO:0005514 biolink:NamedThing nanophthalmia Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. tmpak2llvmy_mondo_relaxed.owl DOID:0080634|Orphanet:35612|SCTID:716775009 owl:Class MONDO:0019874 biolink:NamedThing distal trisomy 7p Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 7pter|telomeric duplication 7p|distal trisomy type 7p|distal duplication 7p SCTID:763276000|ICD10:Q92.3|Orphanet:96074 owl:Class UBERON:0001643 biolink:NamedThing oculomotor nerve Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. tmpak2llvmy_mondo_relaxed.owl cranial nerve III|nervus oculomotorius|3n|nervus oculomotorius [III]|oculomotor nerve [III]|oculomotor III|occulomotor|oculomotor nerve or its root|oculomotor III nerve|CN-III|nerve III|third cranial nerve|oculomotor nerve tree owl:Class MONDO:0000498 biolink:NamedThing arteritic anterior ischemic optic neuropathy An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) tmpak2llvmy_mondo_relaxed.owl arteritic aion SCTID:733506009|UMLS:C2242711|DOID:0050863 owl:Class MONDO:0007482 biolink:NamedThing dyschondrosteosis-nephritis syndrome Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. tmpak2llvmy_mondo_relaxed.owl dyschondrosteosis nephritis|dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis ICD10:Q87.8|MESH:C565080|Orphanet:1765|OMIM:127350|GARD:0001994|UMLS:C1851986 https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis owl:Class GO:0009100 biolink:NamedThing glycoprotein metabolic process The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl glycoprotein metabolism owl:Class MONDO:0007265 biolink:NamedThing cardiofaciocutaneous syndrome 1 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpak2llvmy_mondo_relaxed.owl Cfcs|cardiofaciocutaneous syndrome 1|cardiofaciocutaneous syndrome caused by mutation in BRAF|cardiofaciocutaneous syndrome type 1|CFC1|BRAF cardiofaciocutaneous syndrome|CFC syndrome OMIM:115150|DOID:0111460|UMLS:CN029449 owl:Class UBERON:0013719 biolink:NamedThing dartos muscle of scrotum A dartos muscle that is part of a male reproductive system. tmpak2llvmy_mondo_relaxed.owl dartos tunic|dartos layer of scrotum owl:Class MONDO:0023726 biolink:NamedThing mediastinal yolk sac tumor An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. tmpak2llvmy_mondo_relaxed.owl mediastinal endodermal sinus neoplasm|mediastinal yolk Sac neoplasm|endodermal sinus neoplasm of the mediastinum|mediastinum yolk sac tumor|yolk Sac neoplasm of the mediastinum|EST|endodermal sinus tumor of mediastinum|mediastinal yolk Sac tumor|yolk Sac neoplasm of mediastinum|mediastinal endodermal sinus tumors|endodermal sinus neoplasm of mediastinum|yolk Sac tumor of the mediastinum|endodermal sinus tumor of the mediastinum|mediastinal endodermal sinus tumor|yolk Sac tumor of mediastinum GARD:0008258|UMLS:C1334683|NCIT:C6443 owl:Class MONDO:0006298 biolink:NamedThing mediastinal malignant germ cell tumor An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma. tmpak2llvmy_mondo_relaxed.owl malignant mediastinal germ cell neoplasm|thymic malignant germ cell tumor|malignant germ cell tumor of mediastinum|malignant mediastinal germ cell tumor|mediastinal malignant germ cell tumor|malignant germ cell tumor of the mediastinum|malignant germ cell neoplasm of the mediastinum|malignant germ cell neoplasm of mediastinum|mediastinal germ cell tumor, malignant UMLS:C1334597|EFO:1000366|NCIT:C6446|SCTID:713293002 owl:Class UBERON:8410028 biolink:NamedThing arteriole of appendix An arteriole located in the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl vermiform appendix arteriole|arteriole of vermiform appendix|arteriole of appendix vermiformis|appendix vermiformis arteriole owl:Class UBERON:0005562 biolink:NamedThing thymus primordium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. tmpak2llvmy_mondo_relaxed.owl thymic primordium|thymic rudiment owl:Class GO:0032113 biolink:NamedThing regulation of carbohydrate phosphatase activity Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010921 biolink:NamedThing regulation of phosphatase activity Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003532 biolink:NamedThing hindlimb skin A zone of skin that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of hind limb|skin of lower extremity|lower limb skin|skin of hindlimb|hind limb skin|skin of lower limb owl:Class UBERON:0001419 biolink:NamedThing skin of limb A zone of skin that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of limb|limb zone of skin|limb skin owl:Class UBERON:0034947 biolink:NamedThing gas in respiratory system Any portion of gas located in a part of the respiratory system. tmpak2llvmy_mondo_relaxed.owl respiratory gas|respiratory system gas owl:Class UBERON:0034873 biolink:NamedThing bodily gas Any substance in the body or expelled from the body that is in a gaseous state. tmpak2llvmy_mondo_relaxed.owl gas in anatomical space|portion of gas in anatomical space owl:Class UBERON:0001831 biolink:NamedThing parotid gland The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl glandula parotidea|parotid owl:Class UBERON:0012102 biolink:NamedThing buccal salivary gland A salivary gland that is part of a cheek. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900426 biolink:NamedThing positive regulation of defense response to bacterium Any process that activates or increases the frequency, rate or extent of defense response to bacterium. tmpak2llvmy_mondo_relaxed.owl activation of antibacterial peptide activity|activation of defense response to bacterium|activation of resistance response to pathogenic bacteria|positive regulation of defence response to bacteria|up regulation of antibacterial peptide activity|upregulation of defence response to bacterium|upregulation of defence response to bacteria|activation of resistance response to pathogenic bacterium|upregulation of antibacterial peptide activity|up-regulation of defense response to bacterium|activation of defence response to bacteria|up regulation of defence response to bacteria|positive regulation of defense response to bacteria|positive regulation of antibacterial peptide activity|up-regulation of defense response to bacteria|up-regulation of defence response to bacteria|up regulation of defense response to bacteria|up-regulation of defence response to bacterium|positive regulation of defense response to bacterium, incompatible interaction|up regulation of defence response to bacterium|up regulation of defense response to bacterium|positive regulation of defence response to bacterium|activation of defence response to bacterium|activation of defense response to bacteria|upregulation of defense response to bacteria|up-regulation of antibacterial peptide activity|upregulation of defense response to bacterium owl:Class MONDO:0006386 biolink:NamedThing primary peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity. tmpak2llvmy_mondo_relaxed.owl primary peritoneal serous adenocarcinoma EFO:1000494|UMLS:C1514429|NCIT:C40023 owl:Class GO:0031944 biolink:NamedThing negative regulation of glucocorticoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpak2llvmy_mondo_relaxed.owl down-regulation of glucocorticoid metabolic process|negative regulation of glucocorticoid metabolism|downregulation of glucocorticoid metabolic process|down regulation of glucocorticoid metabolic process|inhibition of glucocorticoid metabolic process owl:Class GO:0045939 biolink:NamedThing negative regulation of steroid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpak2llvmy_mondo_relaxed.owl negative regulation of steroid metabolism|down-regulation of steroid metabolic process|down regulation of steroid metabolic process|downregulation of steroid metabolic process|inhibition of steroid metabolic process owl:Class UBERON:0001833 biolink:NamedThing lip One of the two fleshy folds which surround the opening of the mouth. tmpak2llvmy_mondo_relaxed.owl lips|labia oris owl:Class MONDO:0020287 biolink:NamedThing pulmonary artery or pulmonary branch anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98719 owl:Class ECTO:9000172 biolink:NamedThing exposure to inorganic compound An exposure to inorganic molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to inorganic molecular entity owl:Class ECTO:0000231 biolink:NamedThing exposure to chemical An exposure to chemical entity. tmpak2llvmy_mondo_relaxed.owl exposure to chemical entity owl:Class MONDO:0014923 biolink:NamedThing peeling skin syndrome 5 Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene. tmpak2llvmy_mondo_relaxed.owl peeling skin syndrome type 5|peeling skin syndrome caused by mutation in SERPINB8|PSS5|peeling skin syndrome 5; PSS5|peeling skin syndrome 5|SERPINB8 peeling skin syndrome UMLS:C4310710|OMIM:617115 owl:Class MONDO:0016698 biolink:NamedThing ependymoma A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) tmpak2llvmy_mondo_relaxed.owl ependymoma|ependymoma, benign|clear cell ependymoma (histologic variant)|ependymoma, familial|WHO grade II ependymal tumor|WHO grade II ependymal neoplasm|epithelial ependymoma|tanycytic ependymoma (histologic variant)|benign ependymoma|papillary ependymoma (histologic variant) ONCOTREE:EPM|MESH:D004806|UMLS:C0014474|MedDRA:10014967|ICDO:9391/3|GARD:0006353|UMLS:CN201941|ICD10:D43.2|Orphanet:251636|NCIT:C3017|DOID:4844 owl:Class MONDO:0021639 biolink:NamedThing grade II glioma A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. tmpak2llvmy_mondo_relaxed.owl grade II glioma|WHO grade II glioma NCIT:C132505|UMLS:C4330050 owl:Class MONDO:0006765 biolink:NamedThing Fusobacterium infectious disease Infections with bacteria of the genus fusobacterium. tmpak2llvmy_mondo_relaxed.owl Fusobacterium caused disease or disorder|infection caused by Fusobacterium|infection due to Fusobacterium|Fusobacterium disease or disorder UMLS:C4039413|SCTID:712657002|ICD9:041.84|EFO:1000943 owl:Class MONDO:0006925 biolink:NamedThing Fusobacteriaceae infectious disease Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. tmpak2llvmy_mondo_relaxed.owl infection, Fusobacteriaceae|Fusobacteriaceae disease or disorder|Fusobacteriaceae caused disease or disorder|Fusobacteriaceae infection|infections, Fusobacteriaceae UMLS:C1258222|EFO:1001126|MESH:D045825 owl:Class MONDO:0021527 biolink:NamedThing benign neoplasm of meninges A benign neoplasm that involves the meningeal cluster. tmpak2llvmy_mondo_relaxed.owl benign meningeal neoplasms|benign meninges tumor|benign meningeal neoplasm|meningeal cluster benign neoplasm|benign neoplasms of the meninges|meningeal tumors, benign|benign meningeal tumor|benign neoplasms of meninges|benign tumor of the meninges|benign meningeal tumors|benign tumor of meninges|benign neoplasm of the meninges|benign meninges neoplasm SCTID:109913001|NCIT:C4957|ICD10:D32|UMLS:C0348426 owl:Class MONDO:0016743 biolink:NamedThing tumor of meninges A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. tmpak2llvmy_mondo_relaxed.owl meninges neoplasm|meningeal cluster neoplasm (disease)|meningeal cluster tumor|neoplasm of meninges|tumor of the meninges|meningeal tumor|meninges tumor|meningeal neoplasms|meningeal cluster neoplasm|neoplasm of meningeal cluster|meningeal neoplasm|tumor of meningeal cluster|meningeal cluster rare nervous system tumor|meningothelial tumor|neoplasm of the meninges|tumor of meninges ONCOTREE:MNGT|Orphanet:252025|MedDRA:10061282|NCIT:C3229|SCTID:126965008|UMLS:C0025284|ICD9:239.7 owl:Class MONDO:0009080 biolink:NamedThing split hand-foot malformation 1 with sensorineural hearing loss Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|SHFM1D|congenital deafness with split hands and feet|split hand-split foot-deafness syndrome|deafness, congenital, with split hands and feet|split hand-foot malformation 1 with sensorineural hearing loss Orphanet:71271|OMIM:220600|ICD10:Q87.2|DOID:0090024|MESH:C565647|SCTID:723611008|UMLS:C1857344 DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features owl:Class MONDO:0001663 biolink:NamedThing hole retinal cyst tmpak2llvmy_mondo_relaxed.owl macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst|macular cyst or hole UMLS:C1261331|ICD9:362.54|SCTID:1079004|DOID:13214|ICD10:H35.34 owl:Class MONDO:0002175 biolink:NamedThing degeneration of macula and posterior pole tmpak2llvmy_mondo_relaxed.owl degeneration of macula or posterior pole|degeneration of macula and posterior pole of retina UMLS:C0339436|ICD10:H35.3|DOID:2007|ICD9:362.5|SCTID:267611002 owl:Class MONDO:0017559 biolink:NamedThing congenital elbow dislocation, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q68.8|Orphanet:295227 owl:Class MONDO:0017469 biolink:NamedThing congenital elbow dislocation tmpak2llvmy_mondo_relaxed.owl isolated congenital radial head dislocation|congenital radial head dislocation|isolated congenital elbow dislocation ICD10:Q68.8|Orphanet:295032 owl:Class MONDO:0007072 biolink:NamedThing ADULT syndrome ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. tmpak2llvmy_mondo_relaxed.owl acro-dermato-ungual-lacrimal-tooth syndrome|acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome|acrodermatounguallacrimaltooth syndrome|ADULT syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome GARD:0000384|MESH:C538052|ICD10:Q87.2|SCTID:720464003|Orphanet:978|DOID:0050601|UMLS:C1863204|OMIM:103285 owl:Class HGNC:23503 biolink:NamedThing SLITRK6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009751 biolink:NamedThing cardiac mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures tmpak2llvmy_mondo_relaxed.owl heart mesenchyme owl:Class GO:0051589 biolink:NamedThing negative regulation of neurotransmitter transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl downregulation of neurotransmitter transport|down regulation of neurotransmitter transport|down-regulation of neurotransmitter transport|inhibition of neurotransmitter transport owl:Class GO:0051588 biolink:NamedThing regulation of neurotransmitter transport Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:838 biolink:NamedThing ATP5F1E tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020710 biolink:NamedThing amnionitis Inflammation of the amnion. tmpak2llvmy_mondo_relaxed.owl amnionitis|Infection of amniotic cavity|amniotic infection syndrome|infection of amniotic cavity|amnionitides|amniotic cavity infection SCTID:10573002|UMLS:C0002631|NCIT:C50459|ICD9:658.40 https://github.com/monarch-initiative/mondo/issues/2016 owl:Class UBERON:0003842 biolink:NamedThing neural tube lumen An anatomical space that surrounded_by a neural tube. tmpak2llvmy_mondo_relaxed.owl neural tube neural lumen|neurocoel|prosencoel|lumen of neural tube|cavity of neural tube|central lumen|neural lumen owl:Class GO:1904409 biolink:NamedThing regulation of secretory granule organization Any process that modulates the frequency, rate or extent of secretory granule organization. tmpak2llvmy_mondo_relaxed.owl regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis owl:Class MONDO:0000715 biolink:NamedThing lymph node adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lymph node. tmpak2llvmy_mondo_relaxed.owl lymph node adenoid cystic carcinoma|lymph node adenoid cystic cancer DOID:0060219 owl:Class MONDO:0008819 biolink:NamedThing arteriosclerosis, severe juvenile tmpak2llvmy_mondo_relaxed.owl arteriosclerosis, severe juvenile OMIM:208060|MESH:C565941|UMLS:C1859725 owl:Class GO:0045647 biolink:NamedThing negative regulation of erythrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of erythrocyte differentiation|down-regulation of erythrocyte differentiation|down regulation of erythrocyte differentiation|negative regulation of red blood cell differentiation|inhibition of erythrocyte differentiation|negative regulation of RBC differentiation owl:Class GO:0045646 biolink:NamedThing regulation of erythrocyte differentiation Any process that modulates the frequency, rate or extent of erythrocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of RBC differentiation|regulation of red blood cell differentiation owl:Class MONDO:0001752 biolink:NamedThing alveolar periostitis A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) tmpak2llvmy_mondo_relaxed.owl extrinsic allergic alveolitis of jaw skeleton|dry socket|jaw skeleton extrinsic allergic alveolitis|alveolitis of jaw|dry tooth socket UMLS:C0013240|ICD10:M27.3|SCTID:61804006|MESH:D004368|ICD9:526.5|DOID:13585 owl:Class MONDO:0013873 biolink:NamedThing IMAGe syndrome IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities|IMAGe syndrome|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies OMIM:614732|GARD:0012312|DOID:0050885|ICD9:759.89|Orphanet:85173|NCIT:C130988|SCTID:702384004|ICD10:Q87.1|UMLS:C1846009 https://rarediseases.info.nih.gov/diseases/12312/image-syndrome owl:Class OBO:CHR_9606-chr11q24.1 biolink:NamedThing chr11q24.1 (Human) tmpak2llvmy_mondo_relaxed.owl 124000000 121300000 hg38 owl:Class CHEBI:76760 biolink:NamedThing EC 3.1.* (ester hydrolase) inhibitor A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). tmpak2llvmy_mondo_relaxed.owl EC 3.1.* (ester hydrolase) inhibitors|ester hydrolase inhibitor|ester hydrolase inhibitors|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* inhibitors|ester hydrolase (EC 3.1.*) inhibitor|EC 3.1.* inhibitor owl:Class MONDO:0006213 biolink:NamedThing floor of mouth mucoepidermoid carcinoma A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of floor of mouth|mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of the floor of mouth UMLS:C0280310|NCIT:C8178|EFO:1000260 owl:Class MONDO:0009765 biolink:NamedThing ocular myopathy with curare sensitivity tmpak2llvmy_mondo_relaxed.owl ocular myopathy with curare sensitivity UMLS:C1850341|MESH:C564937|OMIM:257600 owl:Class UBERON:0013718 biolink:NamedThing dartos muscle The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall. tmpak2llvmy_mondo_relaxed.owl dartos muscle|tunica dartos|dartos tunic owl:Class ENVO:01001554 biolink:NamedThing surface layer of a water body A water surface that is part of a water body. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001483 biolink:NamedThing surface of an astronomical body A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017771 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). tmpak2llvmy_mondo_relaxed.owl Mullerian aplasia/dysgenesis|MRKH syndrome|Mayer-Rokitansky-Küster-Hauser syndrome|Rokitansky syndrome|MRKH Orphanet:3109|MedDRA:10065148|NCIT:C124853|ICD10:Q51.8 owl:Class UBERON:0009870 biolink:NamedThing zone of stomach A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. tmpak2llvmy_mondo_relaxed.owl gastric zone|region of stomach|section of stomach owl:Class UBERON:0034944 biolink:NamedThing zone of organ tmpak2llvmy_mondo_relaxed.owl organ zone|organ region with floating fiat boundary|organ sector|organ zonal region owl:Class MONDO:0011446 biolink:NamedThing myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders MESH:C565786|UMLS:C1858478|OMIM:604363 owl:Class MONDO:0021657 biolink:NamedThing ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. tmpak2llvmy_mondo_relaxed.owl Sex cord-stromal neoplasm of ovary|ovarian Sex cord-stromal tumor|ovary sex cord-stromal tumor|Sex cord-stromal neoplasm of the ovary|sex cord-stromal tumor of ovary|ovarian sex cord tumor with annular tubules|sex cord stromal tumor|Sex cord-stromal tumor of ovary|Sex cord-stromal tumor of the ovary|ovarian Sex cord-stromal neoplasm UMLS:C0600113|ONCOTREE:SCST|EFO:1000430|GARD:0012285|NCIT:C4862|DOID:0080369 owl:Class MONDO:0006055 biolink:NamedThing sex cord-stromal tumor A neoplasm involving a sex cord. tmpak2llvmy_mondo_relaxed.owl tumor of sex cord|neoplasm of sex cord|sex cord tumor|Sex cord-stromal tumor, no ICD-O subtype|Sex cord-stromal neoplasm|specialized gonadal neoplasm (morphologic abnormality)|Sex cord-stromal tumor|specialized gonadal neoplasm NOS (morphologic abnormality)|malignant testicular sex cord-stromal tumor|Sex cord stromal tumour|specialized gonadal neoplasm|specialized gonadal tumor (qualifier value)|specialized gonadal tumor|sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|sex cord-gonadal stromal tumor|sex cord neoplasm DOID:192|UMLS:C1515289|UMLS:C0206724|NCIT:C3794|EFO:1000052|EFO:0007483|ICDO:8590/1 owl:Class UBERON:0000026 biolink:NamedThing appendage Major subdivision of an organism that protrudes from the body[DOS, CARO]. tmpak2llvmy_mondo_relaxed.owl limbs/digits/tail|extremity|appendages|extremitaet owl:Class MONDO:0001136 biolink:NamedThing chylocele of tunica vaginalis tmpak2llvmy_mondo_relaxed.owl SCTID:7864001|ICD9:608.84|DOID:10835|UMLS:C0156315 owl:Class UBERON:0006435 biolink:NamedThing os penis the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species tmpak2llvmy_mondo_relaxed.owl penile bone|penis bone|os baculum|baculum owl:Class UBERON:0007719 biolink:NamedThing bone of reproductive organ A bone that is part of a reproductive organ. tmpak2llvmy_mondo_relaxed.owl baculum|os penis/os clitoris owl:Class MONDO:0016812 biolink:NamedThing dopa-responsive dystonia Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. tmpak2llvmy_mondo_relaxed.owl DYT-SPR (subtype)|Segawa's disease|hereditary progressive dystonia with diurnal fluctuation|DYT5|dopa-responsive dystonia|DYT-TH (subtype)|DYT5 dystonia|HPD with diurnal fluctuation|DYT-GCH1 (subtype) SCTID:230332007|NCIT:C116719|Orphanet:255|ICD10:G24.8|UMLS:C1851920|GARD:0009817|MESH:C538007 owl:Class UBERON:0000989 biolink:NamedThing penis A intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination tmpak2llvmy_mondo_relaxed.owl phallus|penes owl:Class UBERON:0016565 biolink:NamedThing cerebral blood vessel A blood vessel that is part of a cerebellum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002414 biolink:NamedThing gastric hemangioma A hemangioma arising from the stomach. tmpak2llvmy_mondo_relaxed.owl stomach hemangioma|gastric hemangioma|gastric angioma|angioma of the stomach|angioma of stomach|hemangioma of stomach|hemangioma of the stomach UMLS:C1333770|NCIT:C5481|DOID:275 owl:Class MONDO:0002337 biolink:NamedThing intra-abdominal hemangioma A hemangioma arising from organs within the abdominal cavity. tmpak2llvmy_mondo_relaxed.owl hemangioma, intra-abdominal|intra-abdominal hemangioma|abdominal cavity hemangioma|hemangioma of intra-abdominal structure|hemangioma of intra-abdominal structures|hemangioma of abdominal cavity NCIT:C3635|DOID:254|SCTID:189197001|UMLS:C0154052|ICD9:228.04|ICD10:D18.03 owl:Class MONDO:0016809 biolink:NamedThing spinocerebellar ataxia with epilepsy tmpak2llvmy_mondo_relaxed.owl mitochondrial spinocerebellar ataxia with epilepsy|SCAE|MSCAE UMLS:CN202060|Orphanet:254881|UMLS:C1843852 owl:Class MONDO:0011835 biolink:NamedThing sensory ataxic neuropathy, dysarthria, and ophthalmoparesis A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. tmpak2llvmy_mondo_relaxed.owl PME type 5|epilepsy, progressive myoclonic, 5|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|EPM5|sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome|progressive myoclonic epilepsy caused by mutation in PRICKLE2|PRICKLE2 progressive myoclonic epilepsy|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|epilepsy, progressive myoclonic, type 5|progressive myoclonus epilepsy type 5|SANDO|epilepsy, progressive myoclonic, 5, formerly|spinocerebellar ataxia with epilepsy|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis OMIM:613832|DOID:0111276|ICD10:G40.3|GARD:0009998|UMLS:CN226157|OMIM:607459|Orphanet:402082|ICD10:G71.3|Orphanet:70595|UMLS:C1843851 owl:Class UBERON:0003265 biolink:NamedThing chorionic mesenchyme A mesenchyme that is part of a chorion. tmpak2llvmy_mondo_relaxed.owl chorion mesenchyme|chorionic mesenchyme|mesenchyme of chorion|mesenchyme of chorion (vertebrates)|chorion mesoderm owl:Class UBERON:0007524 biolink:NamedThing dense mesenchyme tissue Mesenchyme with little extracellular matrix. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:241475 biolink:NamedThing Dioctophymatoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2044726 biolink:NamedThing Dioctophymatida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021908 biolink:NamedThing aplasia cutis congenita dominant Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. tmpak2llvmy_mondo_relaxed.owl GARD:0000751 https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant owl:Class MONDO:0007145 biolink:NamedThing aplasia cutis congenita Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. tmpak2llvmy_mondo_relaxed.owl aplasia cutis congenita|ACC|congenital defect of skull and scalp|scalp defect congenital|aplasia cutis congenita, nonsyndromic|aplasia cutis congenita (disease)|scalp defect, congenital|aplasia cutis congenita nonsyndromic|aplasia cutis congenita recessive aplasia cutis congenita (disease) ICD10:Q84.8|GARD:0005835|GARD:0000755|OMIM:107600|NCIT:C98822|SCTID:35484002|ICD9:757.39|HP:0001057|Orphanet:1114 owl:Class UBERON:0003858 biolink:NamedThing lower eyelid mesenchyme Mesenchyme that is part of a developing lower eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of lower eyelid|inferior eyelid mesenchyme|mesenchyme of inferior eyelid owl:Class GO:1903047 biolink:NamedThing mitotic cell cycle process A process that is part of the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904100 biolink:NamedThing positive regulation of protein O-linked glycosylation Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl up regulation of protein O-linked glycosylation|upregulation of protein O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|up-regulation of protein O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|activation of protein amino acid O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|up-regulation of protein amino acid O-linked glycosylation|activation of protein O-linked glycosylation owl:Class MONDO:0006598 biolink:NamedThing phototoxic dermatitis Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. tmpak2llvmy_mondo_relaxed.owl Photosensitisation reaction|photosensitive dermatitis|photosensitivity reaction|photosensitiveness|Photodermatitis Wikipedia:Photodermatitis|UMLS:C0162830|NCIT:C4816|EFO:1000753|SCTID:53597009|MESH:D017484|DOID:4407 owl:Class MONDO:0006597 biolink:NamedThing photosensitivity disease Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. tmpak2llvmy_mondo_relaxed.owl photodermatitides|disorders, photosensitivity|photodermatosis|photodermatitis|photosensitization|photosensitivity disorder|disorder, photosensitivity MESH:D010787|DOID:3159|EFO:1000752|UMLS:C0031762|SCTID:22649008 owl:Class HP:0010864 biolink:NamedThing Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. tmpak2llvmy_mondo_relaxed.owl Early and severe mental retardation|Severe mental retardation|Intellectual disability, severe|Mental retardation, severe SNOMEDCT_US:40700009|UMLS:C0036857 Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. peter 2010-08-03T06:29:35Z HP:0007196 human_phenotype owl:Class HP:0001249 biolink:NamedThing Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. tmpak2llvmy_mondo_relaxed.owl Mental retardation|Poor school performance|Low intelligence|Mental deficiency|Mental-retardation|Intellectual disability|Dull intelligence|Nonprogressive intellectual disability|Mental retardation, nonspecific|Nonprogressive mental retardation UMLS:C4020876|UMLS:C0423903|SNOMEDCT_US:247578003|UMLS:C0917816|MSH:D008607|UMLS:C3714756|UMLS:C1843367|SNOMEDCT_US:228156007|UMLS:C0025362|SNOMEDCT_US:91138005 This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). HP:0002382|HP:0006877|HP:0002482|HP:0007176|HP:0001286|HP:0006833|HP:0002499|HP:0002316|HP:0001267|HP:0007154|HP:0002122|HP:0002402|HP:0002543|HP:0002192|HP:0003767|HP:0002458|HP:0007180|HP:0000730|HP:0002386 human_phenotype owl:Class MONDO:0007679 biolink:NamedThing GMS syndrome GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl GMS syndrome|Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--mental retardation--short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome Orphanet:2090|ICD10:Q87.8|MESH:C564214|GARD:0002523|SCTID:716024001|UMLS:C1841854|OMIM:138770 https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome owl:Class MONDO:0020218 biolink:NamedThing goniodysgenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:98633|SCTID:251730004 owl:Class MONDO:0010246 biolink:NamedThing developmental and epileptic encephalopathy, 9 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. tmpak2llvmy_mondo_relaxed.owl PCDH19-related infantile epileptic encephalopathy|EIEE9|female restricted epilepsy with intellectual deficit|familial epilepsy and mental retardation limited to females|female restricted epilepsy with mental retardation|early infantile epileptic encephalopathy caused by mutation in PCDH19|early infantile epileptic encephalopathy 9|epilepsy and mental retardation limited to females|epilepsy, female-restricted, with mental retardation|Juberg Hellman syndrome|epileptic encephalopathy, early infantile, 9|epilepsy, female restricted, with mental retardation|Juberg-Hellman syndrome|EFMR|epileptic encephalopathy, early infantile, type 9|epilepsy, female-restricted, with intellectual disability|PCDH19-related female-limited epilepsy|DEE9|female restricted epilepsy with intellectual disability|epilepsy, female restricted, with intellectual disability|PCDH19 early infantile epileptic encephalopathy|PCDH19-related FLE|familial epilepsy and intellectual disability limited to females|early infantile epileptic encephalopathy type 9|developmental and epileptic encephalopathy, 9|early infantile female-limited epilecptic encephalopathy|epilepsy and intellectual disability limited to females GARD:0010806|DOID:0060848|MESH:C564715|Orphanet:101039|UMLS:C1848137|OMIM:300088 owl:Class CL:0002657 biolink:NamedThing glandular cell of esophagus A glandular epithelial cell of the esophagus. tmpak2llvmy_mondo_relaxed.owl FMA:86548 tmeehan 2011-07-08T03:55:57Z cell owl:Class MONDO:0030024 biolink:NamedThing neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities tmpak2llvmy_mondo_relaxed.owl NEDASB|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities OMIM:618859 owl:Class CHEBI:48210 biolink:NamedThing cyclopentafurofurochromene tmpak2llvmy_mondo_relaxed.owl cyclopentafurofurochromenes owl:Class CHEBI:38164 biolink:NamedThing organic heteropentacyclic compound tmpak2llvmy_mondo_relaxed.owl organic heteropentacyclic compounds owl:Class GO:0004757 biolink:NamedThing sepiapterin reductase activity Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+. tmpak2llvmy_mondo_relaxed.owl 7,8-dihydrobiopterin:NADP+ oxidoreductase activity owl:Class MONDO:0023286 biolink:NamedThing graphite pneumoconiosis tmpak2llvmy_mondo_relaxed.owl graphite pneumoconiosis|graphite lung disease|graphitosis|graphite fibrosis|carbon pneumoconiosis|graphite fibrosis of lung GARD:0008359|ICD9:503|UMLS:C0264439|SCTID:17385007 https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis owl:Class MONDO:0032605 biolink:NamedThing intellectual disability, autosomal recessive 66 tmpak2llvmy_mondo_relaxed.owl MRT66|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 OMIM:618221 owl:Class MONDO:0019502 biolink:NamedThing autosomal recessive non-syndromic intellectual disability Autosomal recessive form of non-syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive|autosomal recessive intellectual disability|mental retardation, autosomal recessive|autosomal recessive non-syndromic intellectual disability|AR-NSID|NS-ARID|autosomal recessive non-syndromic mental retardation|autosomal recessive mental retardation|non-syndromic intellectual disability, autosomal recessive DOID:0060308|OMIMPS:249500|UMLS:CN206293|Orphanet:88616 Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 owl:Class HGNC:1955 biolink:NamedThing CHRNA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009920 biolink:NamedThing optic neural crest tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002049 biolink:NamedThing Fraction C precursor B cell A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain. tmpak2llvmy_mondo_relaxed.owl Fraction C tmeehan 2010-04-28T02:04:01Z cell owl:Class MONDO:0011445 biolink:NamedThing hereditary spastic paraplegia 11 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|SPG11 hereditary spastic paraplegia|autosomal recessive spastic paraplegia complicated with thin corpus callosum|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|SPG11|spastic paraplegia - intellectual deficit - thin corpus callosum|autosomal recessive spastic paraplegia type 11|hereditary spastic paraplegia caused by mutation in SPG11|hereditary spastic paraplegia mental impairment and thin corpus callosum|hereditary spastic paraplegia type 11|spastic paraplegia 11|HSP-TCC|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|autosomal recessive spastic paraplegia 11|Nakamura-Osame syndrome|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|spastic paraplegia 11, autosomal recessive|Nakamura Osame syndrome Orphanet:2822|GARD:0004919|ICD10:G11.4|SCTID:715491000|NCIT:C148317|OMIM:604360|DOID:0110764 owl:Class MONDO:0001317 biolink:NamedThing phlyctenulosis tmpak2llvmy_mondo_relaxed.owl Phlyctenular keratoconjunctivitis|strumous ophthalmia DOID:11581|ICD10:H16.25|ICD9:370.31|SCTID:67895005|UMLS:C0155080 owl:Class GO:0016053 biolink:NamedThing organic acid biosynthetic process The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl organic acid anabolism|organic acid synthesis|organic acid formation|organic acid biosynthesis owl:Class MONDO:0016317 biolink:NamedThing limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. tmpak2llvmy_mondo_relaxed.owl limbic encephalitis with N-methyl-D-aspartate receptor antibodies UMLS:C4274344|ICD10:G13.1|Orphanet:217253|UMLS:CN201135|SCTID:716684004 owl:Class MONDO:0015589 biolink:NamedThing paraneoplastic limbic encephalitis A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia. tmpak2llvmy_mondo_relaxed.owl limbic encephalitis SCTID:445014002|Orphanet:163895|ICD10:G13.1|NCIT:C4350|ICD9:323.81 owl:Class NCBITaxon:10241 biolink:NamedThing Chordopoxvirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10240 biolink:NamedThing Poxviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012744 biolink:NamedThing dilated cardiomyopathy 1Y Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, 1Y|dilated cardiomyopathy type 1Y|TPM1 familial isolated dilated cardiomyopathy|CMD1Y|cardiomyopathy, dilated, type 1Y|left ventricular noncompaction 9|familial isolated dilated cardiomyopathy caused by mutation in TPM1 ICD10:I42.0|MESH:C567507|DOID:0110457|OMIM:611878 owl:Class MONDO:0018901 biolink:NamedThing left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. tmpak2llvmy_mondo_relaxed.owl spongy myocardium|left ventricular hypertrabeculation|left ventricular non-compaction cardiomyopathy|Lv non-compaction syndrome|LVNC|left ventricular non-compaction syndrome|left ventricular noncompaction (disease) left ventricular noncompaction (disease) ICD10:I42.8|UMLS:C1960469|OMIMPS:604169|GARD:0010985|Orphanet:54260|DOID:0060480|NCIT:C99544|UMLS:C4021133 https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction owl:Class MONDO:0032702 biolink:NamedThing Coffin-Siris syndrome 8 tmpak2llvmy_mondo_relaxed.owl COFFIN-SIRIS SYNDROME 8|CSS8 OMIM:618362 Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 owl:Class MONDO:0002331 biolink:NamedThing nephrosis Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. tmpak2llvmy_mondo_relaxed.owl Nephroses UMLS:C0027720|MESH:D009401|DOID:2527 owl:Class MONDO:0010080 biolink:NamedThing familial infantile bilateral striatal necrosis The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpak2llvmy_mondo_relaxed.owl familial infantile striatonigral necrosis|bilateral striatal Necrosis, infantile|infantile bilateral striatal necrosis|familial infantile striatonigral degeneration|familial bilateral striatal necrosis|striatal degeneration, familial|SNDI|familial IBSN|hereditary infantile bilateral striatal necrosis|striatonigral degeneration, infantile|FBSN ICD10:G23.2|Orphanet:225154|OMIM:271930|UMLS:CN201303|GARD:0010665 https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis owl:Class NCBITaxon:2732416 biolink:NamedThing Cressdnaviricota tmpak2llvmy_mondo_relaxed.owl eukaryotic Rep-encoding ssDNA viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732092 biolink:NamedThing Shotokuvirae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015075 biolink:NamedThing thyroid gland carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. tmpak2llvmy_mondo_relaxed.owl carcinoma of the thyroid|cancer of the thyroid|thyroid gland cancer|thyroid cancer|thyroid gland carcinoma|carcinoma of thyroid|carcinoma of thyroid gland|carcinoma of the thyroid gland|thyroid carcinoma|cancer of thyroid|head and neck cancer, thyroid DOID:3963|NCIT:C4815|SCTID:448216007|MedDRA:10007476|UMLS:C0549473|HP:0002890|Orphanet:100088|EFO:1000586 owl:Class MONDO:0024573 biolink:NamedThing familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic|hereditary hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic familial cardiomyopathy NCIT:C84773|SCTID:471885006|MESH:D024741|OMIMPS:192600|GARD:0007229|DOID:0080326 owl:Class MONDO:0001438 biolink:NamedThing postinflammatory pulmonary fibrosis tmpak2llvmy_mondo_relaxed.owl postinflammatory pulmonary fibrosis|post-inflammatory pulmonary fibrosis SCTID:266368002|UMLS:C0175999|DOID:12123|ICD9:515|ICD10:J84.10 owl:Class HGNC:6460 biolink:NamedThing KRT83 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006282 biolink:NamedThing regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004712 biolink:NamedThing herpes simplex dermatitis Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. tmpak2llvmy_mondo_relaxed.owl Herpes simplex virus dermatitis|Simplexvirus dermatitis|Simplexvirus caused dermatitis|Herpes simplex dermatitis of eyelid|Herpes simplex eyelid dermatitis|eczema herpeticum (disorder) [ambiguous]|herpes simplex dermatitis|Herpes simplex dermatitis|eczema herpeticum|herpes simplex virus eyelid dermatitis NCIT:C35620|MESH:D007617|UMLS:C0854331|ICD9:054.0|SCTID:186535001|ICD9:054.41|DOID:9123|ICD10:B00.0 owl:Class MONDO:0009511 biolink:NamedThing Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. tmpak2llvmy_mondo_relaxed.owl Larsen syndrome, autosomal recessive|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|JDSCD|Larsen syndrome, autosomal recessive, formerly|multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects OMIM:245600|MESH:C537874|ICD10:Q74.8|DOID:0080575|Orphanet:284139 owl:Class MONDO:0017856 biolink:NamedThing X-linked spasticity-intellectual disability-epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:G25.3|Orphanet:3175|UMLS:CN203866 owl:Class GO:0032277 biolink:NamedThing negative regulation of gonadotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. tmpak2llvmy_mondo_relaxed.owl down regulation of gonadotropin secretion|down-regulation of gonadotropin secretion|inhibition of gonadotropin secretion|downregulation of gonadotropin secretion|negative regulation of gonadotrophin secretion owl:Class GO:0046888 biolink:NamedThing negative regulation of hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. tmpak2llvmy_mondo_relaxed.owl downregulation of hormone secretion|down regulation of hormone secretion|down-regulation of hormone secretion|inhibition of hormone secretion owl:Class HGNC:575 biolink:NamedThing AP4S1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030875 biolink:NamedThing Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. tmpak2llvmy_mondo_relaxed.owl Abnormal pulmonary circulation|Abnormality of respiratory circulation UMLS:C4280730 human_phenotype owl:Class MONDO:0008054 biolink:NamedThing juvenile dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. tmpak2llvmy_mondo_relaxed.owl juvenile myositis|inflammation of myoseptum|JPM|juvenile DM|childhood type dermatomyositis|myopathy, familial idiopathic inflammatory|myoseptum inflammation|myoseptumitis|juvenile dermatomyositis|JDM|myositis|childhood dermatomyositis Orphanet:93672|DOID:14203|ICD10:M33.0|UMLS:C2931785|GARD:0006805|SCTID:1212005|NCIT:C27576|MESH:C000598745|MedDRA:10008521|EFO:0000557 https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis owl:Class CHEBI:64708 biolink:NamedThing one-carbon compound An organic molecular entity containing a single carbon atom (C1). tmpak2llvmy_mondo_relaxed.owl one-carbon compounds owl:Class GO:0005381 biolink:NamedThing iron ion transmembrane transporter activity Enables the transfer of iron (Fe) ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl iron channel activity|multicopper ferroxidase iron transport mediator activity|iron transporter activity|transmembrane iron ion permease activity|zinc, iron permease activity|transmembrane iron permease activity|iron cation channel activity owl:Class GO:0046915 biolink:NamedThing transition metal ion transmembrane transporter activity Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033261 biolink:NamedThing deafness, autosomal dominant 34, with or without inflammation tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 34|DFNA34|deafness, autosomal dominant 34, with or without inflammation DOID:0080270|UMLS:CN653906|OMIM:617772 owl:Class UBERON:0000465 biolink:NamedThing material anatomical entity Anatomical entity that has mass. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001062 biolink:NamedThing anatomical entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008897 biolink:NamedThing fin An external projection of an aquatic animal as a fish used in propelling or guiding the body[BTO]. tmpak2llvmy_mondo_relaxed.owl fins owl:Class NCBITaxon:561 biolink:NamedThing Escherichia tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:19700542 ncbi_taxonomy owl:Class NCBITaxon:543 biolink:NamedThing Enterobacteriaceae tmpak2llvmy_mondo_relaxed.owl Enterobacteraceae|enterobacteria|gamma-3 proteobacteria PMID:10555323|PMID:27620848|PMID:16166704|PMID:10555334|GC_ID:11 ncbi_taxonomy owl:Class GO:1902271 biolink:NamedThing D3 vitamins binding Binding to D3 vitamins. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005499 biolink:NamedThing vitamin D binding Binding to vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl calciferol binding|ergocalciferol binding|cholecalciferol binding owl:Class UBERON:0019241 biolink:NamedThing pedal digit 1 or 5 tmpak2llvmy_mondo_relaxed.owl lateral pedal digit|outer pedal digit|outermost pedal digit|lateral toe owl:Class MONDO:0013477 biolink:NamedThing hypertrophic cardiomyopathy 20 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 20|cardiomyopathy, familial hypertrophic, 20|CMH20|cardiomyopathy familial hypertrophic 20|NEXN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 20|hypertrophic cardiomyopathy caused by mutation in NEXN DOID:0110326|OMIM:613876|UMLS:C3151267 owl:Class UBERON:0002539 biolink:NamedThing pharyngeal arch One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. tmpak2llvmy_mondo_relaxed.owl arcus pharyngei|visceral arch|branchial arch|pharyngeal arches owl:Class NCBITaxon:2585030 biolink:NamedThing unclassified Riboviria tmpak2llvmy_mondo_relaxed.owl unclassified RNA viruses GC_ID:1 NCBITaxon:1922347 ncbi_taxonomy owl:Class NCBITaxon:2559587 biolink:NamedThing Riboviria tmpak2llvmy_mondo_relaxed.owl RNA viruses|RNA viruses and viroids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017353 biolink:NamedThing neonatal glycine encephalopathy Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. tmpak2llvmy_mondo_relaxed.owl neonatal non-ketotic hyperglycinemia|neonatal NKH|classic glycine encephalopathy ICD10:E72.5|Orphanet:289857 owl:Class MONDO:0011612 biolink:NamedThing glycine encephalopathy Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. tmpak2llvmy_mondo_relaxed.owl glycine encephalopathy|GCE|nonketotic hyperglycinemia|Glycine synthase deficiency|non-ketotic hyperglycinemia|hyperglycinemia, Nonketotic|hyperglycinemia, transient neonatal|NKA|hyperglycinemia nonketotic|GLYCINE encephalopathy DOID:9268|ICD10:E72.5|UMLS:C0751748|ICD9:270.7|OMIM:605899|SCTID:237939006|NCIT:C84937|Orphanet:407|GARD:0007219|ICD10:E72.51 https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy owl:Class GO:0010604 biolink:NamedThing positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007863 biolink:NamedThing Kleine-Levin syndrome Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. tmpak2llvmy_mondo_relaxed.owl familial hibernation syndrome|Kleine-LEVIN hibernation syndrome|Kleine Levin syndrome|familial Kleine-Levin syndrome|Kleine-Levin syndrome GARD:0003117|Orphanet:33543|MedDRA:10053712|UMLS:C0206085|NCIT:C84800|MESH:D017593|ICD10:G47.8|SCTID:111488004|EFO:1001354|OMIM:148840|DOID:0060165 https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome owl:Class MONDO:0012325 biolink:NamedThing Nguyen syndrome tmpak2llvmy_mondo_relaxed.owl Nguyen syndrome|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia UMLS:C1864823|OMIM:609643|GARD:0009754|MESH:C536115 https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome owl:Class MONDO:0001008 biolink:NamedThing blepharophimosis The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl blepharophimosis (disease)|blepharophimosis blepharophimosis (disease) ICD9:374.46|ICD10:H02.52|MESH:D016569|DOID:10348|HP:0000581|GARD:0005932 owl:Class UBERON:0036376 biolink:NamedThing wall of left ureter tmpak2llvmy_mondo_relaxed.owl left ureteral wall owl:Class MONDO:0016810 biolink:NamedThing autosomal recessive progressive external ophthalmoplegia Autosomal recessive form of progressive external ophthalmoplegia. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal recessive|arPEO ICD10:H49.4|Orphanet:254886|MESH:C564926 owl:Class MONDO:0020481 biolink:NamedThing myotonia fluctuans Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. tmpak2llvmy_mondo_relaxed.owl Fluctuating myotonia|exercise-induced delayed-onset myotonia|MF ICD10:G71.1|Orphanet:99734|UMLS:C0752355|NCIT:C122789|SCTID:715788001 owl:Class MONDO:0045020 biolink:NamedThing glycine metabolism disease A disease that has its basis in the disruption of glycine metabolic process. tmpak2llvmy_mondo_relaxed.owl glycine metabolism disease|disorder of glycine metabolism|disorder of glycine metabolic process|glycine metabolic process disease SCTID:83076007|UMLS:C0268558 owl:Class MONDO:0037871 biolink:NamedThing amino acid metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of amino acid metabolism|cellular amino acid metabolic process disease|amino acid disorder|amino acid metabolism disorder|disorder of cellular amino acid metabolic process|amino acidopathy NCIT:C97090|SCTID:44779003 owl:Class UBERON:0003549 biolink:NamedThing brain pia mater The fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule. tmpak2llvmy_mondo_relaxed.owl pia mater of brain|brain pia mater of neuraxis|pia mater of neuraxis of brain owl:Class UBERON:0002361 biolink:NamedThing pia mater The innermost layer of the leptomeninges, consisting of a delicate membrane closely covering the surface of the brain and spinal cord,and lying under the arachnoid membrane. The pia, unlike the arachnoid, extends into the sulci in gyrencephalic animals. tmpak2llvmy_mondo_relaxed.owl pial membrane|pia|pia mater of neuraxis owl:Class MONDO:0018827 biolink:NamedThing familial chilblain lupus An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary chilblain lupus|hereditary Chilblain lupus UMLS:CN776917|Orphanet:481662|OMIMPS:610448 owl:Class CL:1000803 biolink:NamedThing kidney inner medulla interstitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001093 cell owl:Class CL:1000617 biolink:NamedThing kidney inner medulla cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001026 cell owl:Class HP:0031247 biolink:NamedThing Whooping cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. tmpak2llvmy_mondo_relaxed.owl 2017-08-12 13:22:51+00:00 The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. peter human_phenotype owl:Class HP:0012735 biolink:NamedThing Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. tmpak2llvmy_mondo_relaxed.owl Cough|Coughing MSH:D003371|UMLS:C0010200|SNOMEDCT_US:272039006|SNOMEDCT_US:49727002|SNOMEDCT_US:263731006 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. peter 2014-03-23T03:19:50Z human_phenotype owl:Class ENVO:09000007 biolink:NamedThing concentration of carbon atom in environmental material The concentration of a carbon atom when measured in environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material carbon atom concentration owl:Class NCBITaxon:32003 biolink:NamedThing Nitrosomonadales tmpak2llvmy_mondo_relaxed.owl Ammonia-oxidizing bacteria|Ammonia oxidizing bacteria PMID:11760943|PMID:10028253|PMID:28581923|PMID:16403855|PMID:25701846|PMID:25017294|GC_ID:11 NCBITaxon:713636|NCBITaxon:1559979|NCBITaxon:206350 ncbi_taxonomy owl:Class NCBITaxon:28216 biolink:NamedThing Betaproteobacteria tmpak2llvmy_mondo_relaxed.owl Purple bacteria, beta subdivision|beta subgroup|beta proteobacteria|b-proteobacteria|beta subdivision|Proteobacteria beta subdivision PMID:28581923|PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class PO:0009009 biolink:NamedThing plant embryo A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631). tmpak2llvmy_mondo_relaxed.owl 植物胚 (Japanese, exact)|embryo (broad)|embrión (Spanish, exact)|germ (related) PO_GIT:92 A plant embryo is generally formed after the first division of a plant zygote (PO:0000423), but in the case of a nucellar (adventitious) plant embryo (PO:0004537), somatic plant embryo (PO:0025302), microspore-derived cultured plant embryo (PO:0025305), and other embryos that arise through apogamy, it begins after the division of a single cell that is not a zygote. The end of the embryo stage varies among taxa; the beginning of a seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010). plant_anatomy owl:Class PO:0000003 biolink:NamedThing whole plant A plant structure (PO:0005679) which is a whole organism. tmpak2llvmy_mondo_relaxed.owl herb (narrow)|clonal colony (related)|frutex (narrow)|suffrutices (narrow)|liana (narrow)|ramet (broad)|prothallium (narrow)|bush (narrow)|vine (narrow)|shrub (narrow)|suffrutex (narrow)|prothallus (narrow)|tree (narrow)|sporophyte (narrow)|woody clump (narrow)|植物体全体 (Japanese, exact)|planta entera (Spanish, exact)|frutices (narrow)|prothalli (narrow)|genet (broad)|seedling (narrow)|gametophyte (narrow)|colony (related) PO_GIT:69|PO_GIT:538 Examples include plant embryo (PO:0009009), megagametophyte (PO:0025279) and microgametophyte (PO:0025280). plant_anatomy owl:Class UBERON:0004939 biolink:NamedThing submucosa of common bile duct A submucosa that is part of a common bile duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ductus choledochus (biliaris) submucosa|submucosa of ductus choledochus (biliaris)|common bile duct submucosa|common bile ductal submucosa owl:Class MONDO:0009841 biolink:NamedThing PEHO syndrome PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. tmpak2llvmy_mondo_relaxed.owl peho|progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|peho syndrome|peho-like syndrome|infantile Cerebellooptic atrophy MESH:C536317|Orphanet:2836|DOID:0080539|UMLS:C1850055|GARD:0004264|ICD10:G31.8|OMIM:260565 https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome owl:Class GO:0006506 biolink:NamedThing GPI anchor biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. tmpak2llvmy_mondo_relaxed.owl GPI anchor synthesis|GPI anchor biosynthesis|glycosylphosphatidylinositol biosynthetic process|GPI/GSI anchor biosynthetic process|GPI/GSI anchor biosynthesis|GPI anchor anabolism|GPI anchor formation|glycosylphosphatidylinositol biosynthesis owl:Class CL:1001581 biolink:NamedThing lateral ventricle glial cell Glial cell of lateral ventricle. tmpak2llvmy_mondo_relaxed.owl lateral ventricle glial cells CALOHA:TS-1258 owl:Class CL:0000125 biolink:NamedThing glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. tmpak2llvmy_mondo_relaxed.owl neuroglia|neuroglial cell CALOHA:TS-0415|FMA:54536|BTO:0002606 cell owl:Class MONDO:0018320 biolink:NamedThing primary microcephaly-mild intellectual disability-young-onset diabetes syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:391408|UMLS:CN204971 owl:Class GO:0031347 biolink:NamedThing regulation of defense response Any process that modulates the frequency, rate or extent of a defense response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004994 biolink:NamedThing cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy|Cardiomyopathies ICD10:I51.5|ICD10:I42|MedDRA:10007636|UMLS:C0878544|ICD10:I42.9|MESH:D009202|ICD9:425.4|DOID:0050700|EFO:0000318|Orphanet:167848|GARD:0011958|NCIT:C34830|SCTID:85898001|ICD9:425.9|ICD9:425 owl:Class MONDO:0013264 biolink:NamedThing amyotrophic lateral sclerosis type 12 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. tmpak2llvmy_mondo_relaxed.owl ALS12|amyotrophic lateral sclerosis type 12|amyotrophic lateral sclerosis caused by mutation in OPTN|amyotrophic lateral sclerosis 12|OPTN amyotrophic lateral sclerosis DOID:0060203|OMIM:613435|UMLS:C3150692 owl:Class MONDO:0008624 biolink:NamedThing Upington disease Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Upington disease|familial dyschondroplasia|hip dysplasia-enchondromata-ecchondroma syndrome|Perthes-like hip disease, enchondromata, and Ecchondromata ICD10:M91.8|MESH:C536472|Orphanet:3408|GARD:0005421|SCTID:719041000|UMLS:C1860596|OMIM:191520 https://rarediseases.info.nih.gov/diseases/5421/upington-disease owl:Class MONDO:0006320 biolink:NamedThing non-cutaneous melanoma Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) tmpak2llvmy_mondo_relaxed.owl non-cutaneous melanoma|extracutaneous melanoma EFO:1000397|UMLS:C1334974|NCIT:C8711 owl:Class MONDO:0014088 biolink:NamedThing advanced sleep phase syndrome 2 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene. tmpak2llvmy_mondo_relaxed.owl advanced sleep phase syndrome type 2|FASPS2|advanced sleep phase syndrome, familial, type 2|familial advanced sleep phase syndrome 2|advanced sleep phase syndrome caused by mutation in CSNK1D|CSNK1D advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 2 OMIM:615224|DOID:0110012|UMLS:C3808874 owl:Class MONDO:0004975 biolink:NamedThing Alzheimer disease A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. tmpak2llvmy_mondo_relaxed.owl Alzheimers disease|Alzheimer's disease|Alzheimer disease|Alzheimer's dementia|Alzheimers dementia|Alzheimer dementia|AD|Alzheimer disease, familial HP:0002511|SCTID:142811000119104|ICD10:G30|UMLS:C0002395|ICD9:290.1|ICD9:331.0|GARD:0000632|KEGG:05010|DOID:10652|EFO:0000249|NCIT:C2866|NIFSTD:birnlex_2092|MESH:D000544|ICD10:G30.9 owl:Class GO:0008203 biolink:NamedThing cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. tmpak2llvmy_mondo_relaxed.owl cholesterol metabolism owl:Class GO:1902652 biolink:NamedThing secondary alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. tmpak2llvmy_mondo_relaxed.owl secondary alcohol metabolism owl:Class MONDO:0008310 biolink:NamedThing Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). tmpak2llvmy_mondo_relaxed.owl HGPS|Hutchinson-Gilford disease|progeria syndrome, childhood-onset|Hutchinson Gilford progeria syndrome|progeria|premature senility syndrome|Hutchinson-Gilford progeria syndrome|Hutchinson Gilford syndrome SCTID:238870004|UMLS:C0033300|GARD:0007467|ICD9:259.8|Orphanet:740|DOID:3911|ICD10:E34.8|OMIM:176670|MESH:D011371|MedDRA:10036794|NCIT:C34951|UMLS:CN236401 Editor note: check wether subset prototype_pattern is appropriate https://rarediseases.info.nih.gov/diseases/7467/progeria owl:Class GO:0010720 biolink:NamedThing positive regulation of cell development Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043903 biolink:NamedThing regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association. tmpak2llvmy_mondo_relaxed.owl regulation of symbiotic process|regulation of interspecies interactions between organisms|regulation of symbiosis, encompassing mutualism through parasitism owl:Class MONDO:0008728 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. tmpak2llvmy_mondo_relaxed.owl adrenal hyperplasia 3|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|21 hydroxylase deficiency|CYP21 deficiency|congenital adrenal hyperplasia 1|21-OHD|21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|classic 21-OHD CAH SCTID:124221007|Orphanet:90794|NCIT:C131087|GARD:0005757|GARD:0012665|UMLS:C4273964|SCTID:717261006|OMIM:201910|ICD10:E25.0|MESH:C535979 owl:Class MONDO:0005372 biolink:NamedThing male infertility The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. tmpak2llvmy_mondo_relaxed.owl infertility disorder of male reproductive system|male reproductive system infertility disorder|male reproductive system infertility UMLS:C0021364|DOID:12336|SCTID:2904007|ICD10:N46|ICD10:N46.9|ICD9:606|MESH:D007248|EFO:0004248|ICD9:606.9 owl:Class MONDO:0020699 biolink:NamedThing biotin metabolic disease A deficiency in biotin through either inherited or acquired causes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0056803 biolink:NamedThing sulfur metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of sulfur metabolic process|disorder of sulfur compound metabolic process|sulfur compound metabolic process disease|disorder of sulphur metabolism|disorder of sulfur metabolism SCTID:123809005|UMLS:C1263724 owl:Class UBERON:0003947 biolink:NamedThing brain ventricle/choroid plexus The brain ventricles or their associated choroid plexuses tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000736 biolink:NamedThing regulation of stem cell differentiation Any process that modulates the frequency, rate or extent of stem cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007983 biolink:NamedThing Schmid metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia, Japanese type|Schmid type metaphyseal dysplasia|metaphyseal chondrodysplasia Schmid type|metaphyseal chondrodysplasia, Schmid type|Japanese type spondylometaphyseal dysplasia|MCDS MESH:C537352|GARD:0007029|ICD10:Q78.5|SCTID:29248006|DOID:0080021|OMIM:156500|Orphanet:174 owl:Class MONDO:0016512 biolink:NamedThing Kabuki syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. tmpak2llvmy_mondo_relaxed.owl Niikawa-Kuroki syndrome|KMS|NKS|Kabuki make up syndrome|Kabuki make-up syndrome GARD:0006810|NCIT:C124837|OMIMPS:147920|MESH:C537705|SCTID:313426007|ICD10:Q87.0|Orphanet:2322|MedDRA:10063935|DOID:0060473|UMLS:C0796004 owl:Class NCBITaxon:207598 biolink:NamedThing Homininae tmpak2llvmy_mondo_relaxed.owl Homo/Pan/Gorilla group GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9604 biolink:NamedThing Hominidae tmpak2llvmy_mondo_relaxed.owl Pongidae|great apes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017604 biolink:NamedThing marginal zone lymphoma A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. tmpak2llvmy_mondo_relaxed.owl MZBCL|MZL|lymphoma of marginal zone B cell|marginal zone lymphoma|marginal zone B cell lymphoma|marginal zone B-cell lymphoma ICDO:9699/3|NCIT:C4341|SCTID:447100004|GARD:0013237|UMLS:C1367654|ONCOTREE:MZL|EFO:1000630|DOID:0050748|Orphanet:300912 owl:Class MONDO:0042489 biolink:NamedThing disease susceptibility A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. tmpak2llvmy_mondo_relaxed.owl disease susceptibilities|diatheses|diathesis|susceptibility, disease|susceptibilities, disease MESH:D004198 owl:Class MONDO:0014768 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. tmpak2llvmy_mondo_relaxed.owl CADASIL type 2|CADASIL caused by mutation in HTRA1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|CADASIL 2|CADASIL2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|HTRA1 CADASIL ICD10:F01.1|DOID:0111036|OMIM:616779|UMLS:C4225211 owl:Class MONDO:0020278 biolink:NamedThing metabolic disease associated with ocular features tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN207081|Orphanet:98710 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class UBERON:0004884 biolink:NamedThing lobar bronchus mesenchyme The mass of tissue composed of mesenchymal cells in the lobar bronchus.. tmpak2llvmy_mondo_relaxed.owl mesenchyme of lobar bronchus owl:Class ENVO:01001310 biolink:NamedThing liquid surface layer A surface layer which is composed primarily of some liquid. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001273 biolink:NamedThing liquid layer A layer which is primarily composed of some liquid material. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002996 biolink:NamedThing cavernous sinus meningioma A meningioma that affects the cavernous sinus. tmpak2llvmy_mondo_relaxed.owl meningioma of cavernous sinus|meningioma of the cavernous sinus|meningioma (disease) of cavernous sinus|cavernous sinus meningioma (disease) NCIT:C5268|UMLS:C1332865|DOID:4435 owl:Class MONDO:0004634 biolink:NamedThing vein disease A disease involving the vein. tmpak2llvmy_mondo_relaxed.owl disease or disorder of vein|disease of vein|vein disease or disorder|disorder of vein|vein disease SCTID:90507008|DOID:866|ICD10:I82|UMLS:C0235522|ICD9:453 owl:Class MONDO:0009435 biolink:NamedThing hypospadias-intellectual disability, Goldblatt type syndrome Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails. tmpak2llvmy_mondo_relaxed.owl hypospadias-mental retardation syndrome|hypospadias-intellectual disability syndrome|hypospadias intellectual disability syndrome|hypospadias mental retardation Goldblatt type|hypospadias intellectual disability Goldblatt type|hypospadias intellectual deficit Goldblatt type|Goldblatt Wallis syndrome|Goldblatt-Wallis syndrome|hypospadias mental retardation syndrome Orphanet:2261|SCTID:716096005|MESH:C563067|OMIM:241760|ICD10:Q87.8|GARD:0002928 https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type owl:Class GO:0098803 biolink:NamedThing respiratory chain complex Any protein complex that is part of a respiratory chain. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016859 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. tmpak2llvmy_mondo_relaxed.owl blepharophimosis types 1 and 2 due to copy number variations|blepharophimosis-epicanthus inversus-ptosis due to a CNV Orphanet:261579|UMLS:CN202202|ICD10:Q10.3 owl:Class MONDO:0007201 biolink:NamedThing blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). tmpak2llvmy_mondo_relaxed.owl blepharophimosis, ptosis, epicanthus inversus with ovarian failure|blepharophimosis syndrome type 1|BPES with premature ovarian failure|blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|blepharophimosis, ptosis, epicanthus inversus syndrome|blepharophimosis, ptosis, and epicanthus inversus|BPES with ovarian failure|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES, type 1|blepharophimosis, ptosis, and epicanthus inversus syndrome|BPES with Duane retraction syndrome|BPES|BPES without ovarian failure|BPES type 1|BPES, type I, autosomal recessive|blepharophimosis types 1 and 2|BPES, type 2 DOID:14778|Orphanet:126|OMIM:110100|MESH:C562419|GARD:0000023|UMLS:C0220663|SCTID:715391004|ICD10:Q10.3 owl:Class GO:0051350 biolink:NamedThing negative regulation of lyase activity Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpak2llvmy_mondo_relaxed.owl inhibition of lyase activity|lyase inhibitor|down-regulation of lyase activity|downregulation of lyase activity|down regulation of lyase activity owl:Class MONDO:0016943 biolink:NamedThing partial duplication of the short arm of chromosome 6 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 6p duplication|Duplication 6p|6p trisomy|partial trisomy 6p|partial duplication of the short arm of chromosome type 6|partial duplication of chromosome 6p|trisomy 6p|partial trisomy of the short arm of chromosome 6|6p duplication|partial trisomy of chromosome 6p GARD:0005352|MESH:C537811|Orphanet:262740|UMLS:CN036641 owl:Class MONDO:0016927 biolink:NamedThing partial duplication of chromosome 6 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 6|partial trisomy of chromosome 6 Orphanet:262628|SCTID:726345000 owl:Class MONDO:0030309 biolink:NamedThing Leber hereditary optic neuropathy, autosomal recessive tmpak2llvmy_mondo_relaxed.owl Leber hereditary optic neuropathy, autosomal recessive|mitochondrial complex 1 deficiency, nuclear type 38|LHONAR OMIM:619382 owl:Class MONDO:0021539 biolink:NamedThing hamartoma of skin appendage A hamartoma (disease) that involves the cutaneous appendage. tmpak2llvmy_mondo_relaxed.owl skin appendage hamartoma|cutaneous appendage hamartoma (disease) NCIT:C5562|ICD9:759.6|UMLS:C1302712|SCTID:399906000 owl:Class NCBITaxon:314295 biolink:NamedThing Hominoidea tmpak2llvmy_mondo_relaxed.owl ape|apes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012613 biolink:NamedThing intellectual disability, autosomal recessive 5 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|NSUN2 autosomal recessive non-syndromic intellectual disability|MRT5|intellectual disability, autosomal recessive 5|mental retardation, autosomal recessive type 5|mental retardation, autosomal recessive 5|intellectual disability, autosomal recessive type 5 OMIM:611091|MESH:C567018|UMLS:C1970199 owl:Class GO:0014056 biolink:NamedThing regulation of acetylcholine secretion, neurotransmission Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904411 biolink:NamedThing positive regulation of secretory granule organization Any process that activates or increases the frequency, rate or extent of secretory granule organization. tmpak2llvmy_mondo_relaxed.owl up-regulation of secretory granule organization|positive regulation of secretory granule organization and biogenesis|activation of secretory granule organization|up-regulation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|activation of secretory granule organisation|positive regulation of secretory granule organisation|up regulation of secretory granule organization|activation of secretory granule organization and biogenesis|upregulation of secretory granule organization|up regulation of secretory granule organisation|upregulation of secretory granule organization and biogenesis|up regulation of secretory granule organization and biogenesis|up-regulation of secretory granule organisation owl:Class GO:0010638 biolink:NamedThing positive regulation of organelle organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpak2llvmy_mondo_relaxed.owl positive regulation of organelle organization and biogenesis|positive regulation of organelle organisation owl:Class MONDO:0040700 biolink:NamedThing orbital dermoid cyst A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative. tmpak2llvmy_mondo_relaxed.owl dermoid cyst of orbit|dermoid cyst of the orbit|orbit dermoid cyst|epidermal dermoid cyst NCIT:C4548|SCTID:255002002|UMLS:C0346356 owl:Class MONDO:0003021 biolink:NamedThing central nervous system angiosarcoma A malignant vascular neoplasm arising from the brain, spinal cord or meninges. tmpak2llvmy_mondo_relaxed.owl angiosarcoma of the central nervous system|angiosarcoma of central nervous system|central nervous system angiosarcoma|hemangiosarcoma of the central nervous system|angiosarcoma of the CNS|CNS angiosarcoma|central nervous system angiosarcoma (disease)|hemangiosarcoma of central nervous system|CNS hemangiosarcoma|hemangiosarcoma of the CNS|angiosarcoma of CNS|angiosarcoma (disease) of central nervous system|hemangiosarcoma of CNS|central nervous system hemangiosarcoma NCIT:C5450|UMLS:C1332875|DOID:4504 owl:Class UBERON:0005108 biolink:NamedThing metanephric epithelium An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012665 biolink:NamedThing cataract 33 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene. tmpak2llvmy_mondo_relaxed.owl CTRCT33|BFSP1 early-onset non-syndromic cataract|cataract 33, multiple types|cataract 33, cortical|cataract type 33|early-onset non-syndromic cataract caused by mutation in BFSP1|cataract 33|cortical cataract 33 MESH:C566955|UMLS:C3808107|DOID:0110264|OMIM:611391|ICD10:Q12.0|Orphanet:217052|Orphanet:217046 owl:Class MONDO:0023696 biolink:NamedThing Marinesco-Sjogren-like syndrome A disease with similar features to Marinesco-Sjogren syndrome. tmpak2llvmy_mondo_relaxed.owl Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy MESH:C535913|GARD:0008745|UMLS:C0796036 https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls owl:Class GO:2000259 biolink:NamedThing positive regulation of protein activation cascade Any process that activates or increases the frequency, rate or extent of protein activation cascade. tmpak2llvmy_mondo_relaxed.owl positive regulation of protein activation pathway|positive regulation of protein activitory cascade owl:Class MONDO:0007174 biolink:NamedThing Lown-Ganong-Levine syndrome Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). tmpak2llvmy_mondo_relaxed.owl LGL syndrome|Lown-Ganong-Levine syndrome|atrial tachyarrhythmia with short PR interval|syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias ICD9:426.81|MESH:D008151|ICD10:I45.6|Orphanet:844|MedDRA:10024984|UMLS:C0024054|DOID:13087|UMLS:C1862387|OMIM:108950|SCTID:55475008 owl:Class UBERON:0004331 biolink:NamedThing proximal phalanx of manual digit 5 A proximal phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl 5th finger proximal phalanx|manual phalanx V-1|proximal phalanx of little finger|proximal phalanx of manual digit V|manual digit 5 proximal phalanx|proximal phalanx of 5th digit of hand|proximal phalanx of 5th finger|fifth finger proximal phalanx|5th digit of hand proximal phalanx|proximal phalanx of fifth finger|fifth proximal phalanx of hand|hand digit 5 proximal phalanx|proximal phalanx of fifth digit of hand owl:Class GO:0046496 biolink:NamedThing nicotinamide nucleotide metabolic process The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpak2llvmy_mondo_relaxed.owl nicotinamide nucleotide metabolism owl:Class MONDO:0016202 biolink:NamedThing autosomal dominant rhegmatogenous retinal detachment Autosomal dominant form of rhegmatogenous retinal detachment. tmpak2llvmy_mondo_relaxed.owl rhegmatogenous retinal detachment, autosomal dominant UMLS:C1836081|Orphanet:209867|ICD10:H33.0 owl:Class UBERON:0004778 biolink:NamedThing larynx submucosa A submucosa that is part of a larynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl laryngeal submucosa|submucosa of larynx owl:Class GO:0070085 biolink:NamedThing glycosylation The covalent attachment and further modification of carbohydrate residues to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008152 biolink:NamedThing metabolic process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. tmpak2llvmy_mondo_relaxed.owl single-organism metabolic process|metabolic process resulting in cell growth|metabolism|multicellular organism metabolic process|metabolism resulting in cell growth owl:Class MONDO:0021452 biolink:NamedThing benign neoplasm of cornea A benign neoplasm that involves the cornea. tmpak2llvmy_mondo_relaxed.owl benign corneal tumor|benign neoplasm of the cornea|benign cornea neoplasm|benign cornea tumor|cornea benign neoplasm|benign corneal neoplasm|benign tumor of the cornea|benign tumor of cornea ICD9:224.4|UMLS:C0154026|SCTID:92070006|NCIT:C3623 owl:Class HGNC:2558 biolink:NamedThing CX3CR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100022 biolink:NamedThing neonatal/infantile epilepsy syndrome An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. tmpak2llvmy_mondo_relaxed.owl 2018-06-22 23:34:03+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0016011 biolink:NamedThing fetal alcohol syndrome Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). tmpak2llvmy_mondo_relaxed.owl alcohol-related birth defects|alcohol-related neurodevelopmental disorder|ARBD|static encephalopathy|FAS|fetal alcohol spectrum disorders|FASD|ARND DOID:0050667|MedDRA:10016845|NCIT:C84713|SCTID:205788004|ICD10:Q86.0|Orphanet:1915|DOID:0050665|UMLS:C0015923 owl:Class MONDO:0000408 biolink:NamedThing fetal alcohol spectrum disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. tmpak2llvmy_mondo_relaxed.owl FASD|FAEs (fetal alcohol effects)|syndrome, fetal alcohol|fetal alcohol syndrome (FAS) - type|alcohol related birth defects|FAE (fetal alcohol effects)|growth retardation, facial abnormalities, and central nervous system dysfunction|fetal alcohol spectrum disorders|partial fetal alcohol syndrome|alcohol related neurodevelopmental disorder|fetal alcohol syndrome|FASDs|alcohol-related birth defects (ARBD) - type|birth defects, alcohol-related|alcohol-related birth defects|alcohol-related neurodevelopmental disorder (ARND) - type NCIT:C92780|UMLS:CN036067|MESH:D063647|SCTID:609437000|GARD:0000599|UMLS:C2985290|UMLS:CN200663|DOID:0050696 owl:Class MONDO:0007511 biolink:NamedThing ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type SCTID:734018003|Orphanet:1818|OMIM:129510|MESH:C565068|ICD10:Q82.4|GARD:0002055|UMLS:C1851858 https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type owl:Class GO:0048242 biolink:NamedThing epinephrine secretion The regulated release of epinephrine by a cell. Epinephrine is a catecholamine hormone secreted by the adrenal medulla and a neurotransmitter, released by certain neurons and active in the central nervous system. tmpak2llvmy_mondo_relaxed.owl adrenaline secretion owl:Class GO:0048241 biolink:NamedThing epinephrine transport The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl adrenaline transport owl:Class UBERON:0007247 biolink:NamedThing nucleus of superior olivary complex Any of the nuclei that comprise the superior olivary complex (superior olive). This includes both the primary nuclei such as the lateral and medial nuclei, as well as periolivary nuclei. tmpak2llvmy_mondo_relaxed.owl superior olivary complex nucleus owl:Class UBERON:0006331 biolink:NamedThing brainstem nucleus A nucleus of brain that is part of a brainstem. tmpak2llvmy_mondo_relaxed.owl brain stem nucleus owl:Class UBERON:0016554 biolink:NamedThing white matter of midbrain A white matter that is part of the midbrain. tmpak2llvmy_mondo_relaxed.owl mesencephalic white matter owl:Class HGNC:12801 biolink:NamedThing XBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015779 biolink:NamedThing 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. tmpak2llvmy_mondo_relaxed.owl 45,X0/46,XY MGD|45,X/46,XY MGD|45,X/46,XY gonadal dysgenesis|XY/X0|45,X/46,XY disorder of Sex development|45,X0/46,XY mixed gonadal dysgenesis|Mixed gonadal dysgenesis NCIT:C120199|Orphanet:1772|ICD10:Q98.7|DOID:0080656 owl:Class MONDO:0020639 biolink:NamedThing monosomy A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. tmpak2llvmy_mondo_relaxed.owl monosomy NCIT:C3239|MESH:D009006 owl:Class MONDO:0003285 biolink:NamedThing fallopian tube leiomyoma A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl fallopian tube leiomyoma|leiomyoma of fallopian tube UMLS:C1517115|NCIT:C40127|DOID:5124 owl:Class MONDO:0009798 biolink:NamedThing intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl primrose syndrome|PRIMS|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes Orphanet:3042|ICD10:Q87.8|SCTID:726709001|MESH:C536420|UMLS:C0796121|GARD:0004488|OMIM:259050 owl:Class CHEBI:38092 biolink:NamedThing cardenolide glycoside Any member of the class of cardenolides with glycosyl residues attached to position 3. tmpak2llvmy_mondo_relaxed.owl 5alpha-cardenolide glycoside|5beta-cardenolide glycoside owl:Class CHEBI:74634 biolink:NamedThing cardenolides Any steroid lactone that is a C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021056 biolink:NamedThing familial adenomatous polyposis 1 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. tmpak2llvmy_mondo_relaxed.owl FAP1|brain tumor-polyposis syndrome 2|Gardner syndrome|familial polyposis of the colon|familial adenomatous polyposis 1|familial adenomatous polyposis, attenuated|APC attenuated familial adenomatous polyposis|adenomatous polyposis coli, attenuated|attenuated familial adenomatous polyposis caused by mutation in APC|polyposis, adenomatous intestinal|adenomatous polyposis of the colon OMIM:175100|DOID:0080409 owl:Class UBERON:0006686 biolink:NamedThing spinal vein A vein that is part of a vertebral column. tmpak2llvmy_mondo_relaxed.owl spinal branch|vena spinalis owl:Class MONDO:0024638 biolink:NamedThing pancreatic gastrinoma A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. tmpak2llvmy_mondo_relaxed.owl pancreatic gastrinoma NCIT:C95596 owl:Class MONDO:0003525 biolink:NamedThing pancreatic gastrin-producing neuroendocrine tumor A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. tmpak2llvmy_mondo_relaxed.owl gastrin-producing neuroendocrine tumor of pancreas|pancreatic G-cell tumor|islet cell tumor, ulcerogenic|pancreatic gastrin producing NET|pancreas gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|pancreatic gastrin-producing neuroendocrine tumor UMLS:C1368066|NCIT:C9069|MESH:D015408|DOID:5580 Editor note: determine difference between NCIT:C95596 and NCIT:C9069 owl:Class NCBITaxon:123367 biolink:NamedThing Ctenosquamata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123366 biolink:NamedThing Eurypterygia tmpak2llvmy_mondo_relaxed.owl Eurypterygii GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005023 biolink:NamedThing ductal breast carcinoma in situ A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. tmpak2llvmy_mondo_relaxed.owl non-infiltrating intraductal adenocarcinoma of breast|non-infiltrating ductal breast carcinoma|ductal carcinoma in situ|intraductal carcinoma|non-infiltrating intraductal carcinoma|mammary duct in situ carcinoma|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating ductal adenocarcinoma of the breast|non-invasive intraductal breast adenocarcinoma|ductal breast carcinoma in situ|non-invasive intraductal adenocarcinoma of breast|intraductal breast carcinoma|non-infiltrating ductal breast adenocarcinoma|intraductal carcinoma of breast|ductal carcinoma in situ (DCIS)|non-invasive ductal adenocarcinoma of the breast|non-invasive ductal carcinoma of breast|non-infiltrating ductal adenocarcinoma of breast|DCIS|breast ductal carcinoma in situ|mammary duct carcinoma in situ|non-invasive ductal carcinoma of the breast|intraductal carcinoma of the breast|stage 0 mammary duct carcinoma|non-infiltrating ductal carcinoma of breast|ductal carcinoma in situ of the breast|non-infiltrating intraductal adenocarcinoma|non-invasive ductal adenocarcinoma of breast|ductal carcinoma in situ of breast|non-invasive ductal breast carcinoma|non-invasive intraductal adenocarcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating ductal carcinoma of the breast|carcinoma in situ of mammary duct|non-invasive ductal breast adenocarcinoma ONCOTREE:DCIS|MESH:D002285|EFO:0000432|ICD9:233.0|DOID:0060074|ICDO:8500/2|NCIT:C2924 owl:Class MONDO:0012415 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal dominant 4|PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM:610131|UMLS:C1864668|MESH:C566437|DOID:0111525 owl:Class MONDO:0033551 biolink:NamedThing immunodeficiency 72 with autoinflammation tmpak2llvmy_mondo_relaxed.owl IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION|IMD72 OMIM:618982 owl:Class MONDO:0021921 biolink:NamedThing Arnold stickler bourne syndrome tmpak2llvmy_mondo_relaxed.owl corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy GARD:0000366|MESH:C537431|UMLS:C2931492 https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome owl:Class MONDO:0010880 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 2 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|telangiectasia, hereditary hemorrhagic, type 2|ORW2|Osler Weber Rendu syndrome type 2|HHT2|ACVRL1 hereditary hemorrhagic telangiectasia|telangiectasia hereditary hemorrhagic type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related|hereditary hemorrhagic telangiectasia type 2 OMIM:600376|GARD:0009901 https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2 owl:Class MONDO:0011252 biolink:NamedThing spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Shohat type|spondyloepimetaphyseal dysplasia Shohat type|SEMDSH|SEMD, Shohat type|SEMD Shohat type ICD10:Q77.7|SCTID:719201004|OMIM:602557|MESH:C566523|GARD:0004980|UMLS:C1865185|Orphanet:93352 https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type owl:Class MONDO:0001172 biolink:NamedThing salpingo-oophoritis tmpak2llvmy_mondo_relaxed.owl tubo ovarian abscess|tubo-ovarian abscess|tubo-ovarian abscess (disorder)|salpingitis/oophoritis|Tubo-ovarian inflammatory disease DOID:10972|SCTID:46536000|ICD9:614.2|ICD10:N70|ICD10:N70.93|ICD10:N70.9|UMLS:C0036133 owl:Class MONDO:0006877 biolink:NamedThing oophoritis Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. tmpak2llvmy_mondo_relaxed.owl inflammation of ovary|ovary inflammation MedDRA:10030345|MESH:D009869|DOID:10974|EFO:1001071|UMLS:C0029051|SCTID:76047005|ICD10:N70.92 owl:Class GO:0060764 biolink:NamedThing cell-cell signaling involved in mammary gland development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. tmpak2llvmy_mondo_relaxed.owl cell-cell signalling involved in mammary gland development owl:Class GO:0007267 biolink:NamedThing cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. tmpak2llvmy_mondo_relaxed.owl cell-cell signalling owl:Class UBERON:0000976 biolink:NamedThing humerus Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah] tmpak2llvmy_mondo_relaxed.owl proximal metapterygial mesomere of pectoral appendage|humerus bone|proximal metapterygial mesomere of pectoral fin|mesomere 1 of pectoral appendage|humeri owl:Class UBERON:0004250 biolink:NamedThing upper arm bone A bone that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl humerus owl:Class MONDO:0009955 biolink:NamedThing rapadilino syndrome RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. tmpak2llvmy_mondo_relaxed.owl radial and patellar hypoplasia|rapadilino syndrome|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia DOID:0050774|ICD10:Q87.1|GARD:0004637|MESH:C535288|SCTID:702413000|UMLS:C1849453|ICD9:759.89|OMIM:266280|Orphanet:3021 https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome owl:Class MONDO:0000828 biolink:NamedThing juvenile-onset Parkinson disease tmpak2llvmy_mondo_relaxed.owl juvenile-onset Parkinson's disease DOID:0060893 Editor notes: check onset axioms owl:Class CL:2000057 biolink:NamedThing femural osteoblast Any osteoblast that is part of a femur. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4610 TermGenie 2014-10-06T19:29:45Z cell owl:Class CL:0000062 biolink:NamedThing osteoblast Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. tmpak2llvmy_mondo_relaxed.owl BTO:0001593|CALOHA:TS-0720|FMA:66780 non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 cell owl:Class GO:0044262 biolink:NamedThing cellular carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular carbohydrate metabolism|main pathways of carbohydrate metabolism|main pathways of carbohydrate metabolic process owl:Class GO:0043473 biolink:NamedThing pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045821 biolink:NamedThing positive regulation of glycolytic process Any process that activates or increases the frequency, rate or extent of glycolysis. tmpak2llvmy_mondo_relaxed.owl up regulation of glycolysis|stimulation of glycolysis|up-regulation of glycolysis|upregulation of glycolysis|activation of glycolysis owl:Class GO:1900544 biolink:NamedThing positive regulation of purine nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. tmpak2llvmy_mondo_relaxed.owl activation of purine metabolic process|up-regulation of purine metabolic process|positive regulation of purine metabolism|upregulation of purine metabolism|activation of purine nucleotide metabolism|up-regulation of purine nucleotide metabolism|activation of purine nucleotide metabolic process|up-regulation of purine metabolism|upregulation of purine nucleotide metabolic process|positive regulation of purine metabolic process|up regulation of purine metabolism|upregulation of purine metabolic process|up-regulation of purine nucleotide metabolic process|up regulation of purine nucleotide metabolism|up regulation of purine metabolic process|up regulation of purine nucleotide metabolic process|positive regulation of purine nucleotide metabolism|upregulation of purine nucleotide metabolism|activation of purine metabolism owl:Class MONDO:0009668 biolink:NamedThing lethal multiple pterygium syndrome Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. tmpak2llvmy_mondo_relaxed.owl multiple pterygium syndrome lethal type|autosomal recessive lethal multiple pterygium syndrome|pterygium syndrome, multiple, lethal type|pterygium syndrome multiple lethal type|multiple pterygium syndrome, lethal type|lethal multiple pterygium syndrome|LMPS ICD9:759.89|UMLS:C1854678|Orphanet:33108|SCTID:60192008|GARD:0003834|ICD10:Q79.8|OMIM:253290|NCIT:C101038 https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type owl:Class GO:0072525 biolink:NamedThing pyridine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpak2llvmy_mondo_relaxed.owl pyridine-containing compound formation|pyridine-containing compound synthesis|pyridine and derivative biosynthetic process|pyridine-containing compound biosynthesis|pyridine-containing compound anabolism owl:Class MONDO:0015175 biolink:NamedThing autoimmune pancreatitis Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. tmpak2llvmy_mondo_relaxed.owl AIP|lymphoplasmocytic sclerosing pancreatitis GARD:0010911|Orphanet:103919|MedDRA:10069002|SCTID:448542008|ICD10:K86.1|DOID:0040091|UMLS:C2609129 owl:Class MONDO:0000588 biolink:NamedThing autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system. tmpak2llvmy_mondo_relaxed.owl alimentary part of gastrointestinal system hypersensitivity reaction type II disease|autoimmune disease of alimentary part of gastrointestinal system|alimentary part of gastrointestinal system autoimmune disease DOID:0060031 owl:Class UBERON:0002336 biolink:NamedThing corpus callosum White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM) tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005340 biolink:NamedThing dorsal telencephalic commissure A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP]. tmpak2llvmy_mondo_relaxed.owl dorsal commissure owl:Class MONDO:0009585 biolink:NamedThing encephalopathy due to beta-mercaptolactate-cysteine disulfiduria tmpak2llvmy_mondo_relaxed.owl mercaptolactate-cysteine disulfiduria|MCDU|Ampola syndrome|Beta-mercaptolactate cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|disulfiduria, mixed Orphanet:1035|ICD10:E72.1|GARD:0000654|OMIM:249650|MESH:C563085|UMLS:C0796055 owl:Class MONDO:0002602 biolink:NamedThing central nervous system disease A disease involving the central nervous system. tmpak2llvmy_mondo_relaxed.owl disease or disorder of central nervous system|central nervous system disorder|disease of central nervous system|central nervous disease|central nervous system disease or disorder|disease of the central nervous system|disorder of central nervous system|central nervous system disease DOID:331|SCTID:23853001|NCIT:C2934|ICD10:G96.9|MESH:D002493|UMLS:C0007682 owl:Class MONDO:0008626 biolink:NamedThing ureter, bifid or double tmpak2llvmy_mondo_relaxed.owl ureter, bifid or double OMIM:191550|UMLS:C1860586|MESH:C566012 owl:Class MONDO:0003030 biolink:NamedThing endometrioid stromal sarcoma of the cervix A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrial stromal sarcoma of the cervix|endometrioid stromal sarcoma of uterine cervix|cervical endometrial stromal sarcoma|uterine cervix endometrioid stromal sarcoma|endometrioid stromal sarcoma of the cervix DOID:4520|NCIT:C40220|UMLS:C3642326 owl:Class MONDO:0003031 biolink:NamedThing endometrioid stromal and related neoplasms of the cervix A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal and related neoplasms of the cervix|cervix endometrial stromal tumor|endometrioid stromal and related tumors of the cervix DOID:4521|UMLS:C4289586|NCIT:C40218 owl:Class MONDO:0011663 biolink:NamedThing juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. tmpak2llvmy_mondo_relaxed.owl primary lateral sclerosis, juvenile|PLS juvenile|juvenile PLS|PLSJ|JPLS|Pls, juvenile ICD10:G12.2|OMIM:606353|SCTID:717964007|UMLS:C1853396|MESH:C536416|GARD:0004485|Orphanet:247604 https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis owl:Class MONDO:0018155 biolink:NamedThing lateral sclerosis Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. tmpak2llvmy_mondo_relaxed.owl PLS|adult-onset PLS|primary lateral sclerosis|adult-onset primary lateral sclerosis MedDRA:10036704|GARD:0010684|ICD10:G12.2|ICD10:G12.29|UMLS:C0154682|DOID:230|NCIT:C129933|Orphanet:35689|ICD9:335.24|SCTID:81211007 owl:Class UBERON:0004380 biolink:NamedThing proximal epiphysis An epiphysis that is on the proximal side of the bone. tmpak2llvmy_mondo_relaxed.owl proximal end of long bone owl:Class HGNC:21732 biolink:NamedThing ANTXR2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010303 biolink:NamedThing extraembryonic epithelium An epithelium that is part of a extraembryonic structure. tmpak2llvmy_mondo_relaxed.owl extra-embryonic epithelium owl:Class GO:0048582 biolink:NamedThing positive regulation of post-embryonic development Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpak2llvmy_mondo_relaxed.owl stimulation of post-embryonic development|up regulation of post-embryonic development|activation of post-embryonic development|up-regulation of post-embryonic development|upregulation of post-embryonic development owl:Class HGNC:11354 biolink:NamedThing STAG1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008374 biolink:NamedThing O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016747 biolink:NamedThing acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl transferase activity, transferring groups other than amino-acyl groups|transferase activity, transferring acyl groups other than amino-acyl groups owl:Class MONDO:0000273 biolink:NamedThing Kunjin virus infectous disease tmpak2llvmy_mondo_relaxed.owl Kunjin encephalitis DOID:0050174 owl:Class UBERON:0005606 biolink:NamedThing hyaloid cavity tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012467 biolink:NamedThing enclosed anatomical space An anatomical space with no opening to another space or to the exterior. tmpak2llvmy_mondo_relaxed.owl closed anatomical space owl:Class MONDO:0001724 biolink:NamedThing supraglottis cancer A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl Ca larynx - supraglottis|malignant neoplasm of the supraglottis|malignant supraglottic tumor|malignant tumor of supraglottis|supraglottic part of larynx cancer|malignant supraglottic part of larynx neoplasm|malignant supraglottic neoplasm|malignant neoplasm of supraglottic part of larynx|malignant tumor of the supraglottis|malignant supraglottis neoplasm|malignant neoplasm of supraglottis|malignant neoplasm of extrinsic larynx|cancer of supraglottic part of larynx|malignant supraglottis tumor NCIT:C3545|SCTID:187842004|DOID:13476|UMLS:C0153484|ICD9:161.1|ICD10:C32.1 supraglottis owl:Class MONDO:0002352 biolink:NamedThing larynx cancer A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. tmpak2llvmy_mondo_relaxed.owl malignant larynx neoplasm|malignant laryngeal neoplasm|cancer of larynx|malignant tumor of larynx|malignant neoplasm of the larynx|malignant neoplasm of larynx|malignant laryngeal tumor|malignant tumor of the larynx|larynx cancer|malignant larynx tumor EFO:1000354|ICD10:C32|ICD9:161.8|ICD10:C32.9|DOID:2596|UMLS:C0007107|SCTID:363429002|ICD9:161.9|ICD9:161|NCIT:C7484 owl:Class MONDO:0013899 biolink:NamedThing Weill-Marchesani syndrome 3 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. tmpak2llvmy_mondo_relaxed.owl Weill-Marchesani syndrome type 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome 3|WMS3|Weill-Marchesani syndrome caused by mutation in LTBP2 UMLS:C3553785|OMIM:614819 owl:Class MONDO:0020696 biolink:NamedThing vitamin B12 deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. tmpak2llvmy_mondo_relaxed.owl hypocobalaminemia|vitamin b12 deficiency|cobalamin deficiency SCTID:190634004|MESH:D014806|HP:0100502|UMLS:C0042847|NCIT:C131684|ICD9:266.2 owl:Class MONDO:0042976 biolink:NamedThing vitamin B deficiency A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. tmpak2llvmy_mondo_relaxed.owl vitamin B deficiencies|deficiency, vitamin B|deficiencies, vitamin B NCIT:C35129|UMLS:C0042850|MESH:D014804|SCTID:47903000 owl:Class GO:0051347 biolink:NamedThing positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpak2llvmy_mondo_relaxed.owl transferase activator|stimulation of transferase activity|up regulation of transferase activity|up-regulation of transferase activity|activation of transferase activity|upregulation of transferase activity owl:Class UBERON:0003832 biolink:NamedThing esophagus muscle Any muscle organ that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl esophageal muscle|muscle organ of gullet|oesophagus muscle organ|muscle organ of oesophagus|muscle organ of esophagus|esophagus muscle organ|gullet muscle organ owl:Class PATO:0000136 biolink:NamedThing closure A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006564 biolink:NamedThing irritant dermatitis An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. tmpak2llvmy_mondo_relaxed.owl primary irritant dermatitis|irritant contact dermatitis UMLS:C0162823|ICD9:692.9|ICD10:L24.9|DOID:2772|SCTID:110979008|ICD10:L24|NCIT:C27151|EFO:1000718|MESH:D017453 owl:Class GO:0003707 biolink:NamedThing steroid hormone receptor activity Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0038023 biolink:NamedThing signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpak2llvmy_mondo_relaxed.owl receptor activity involved in signal transduction|receptor activity|signalling receptor activity owl:Class GO:0031348 biolink:NamedThing negative regulation of defense response Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. tmpak2llvmy_mondo_relaxed.owl down-regulation of defense response|down regulation of defense response|inhibition of defense response|downregulation of defense response owl:Class MONDO:0019133 biolink:NamedThing visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO). tmpak2llvmy_mondo_relaxed.owl UMLS:CN205657|Orphanet:73246|ICD10:Q87.8 owl:Class MONDO:0020161 biolink:NamedThing congenital ectropion tmpak2llvmy_mondo_relaxed.owl Orphanet:98570|ICD10:Q10.1|SCTID:26590002 owl:Class MONDO:0020718 biolink:NamedThing congenital short bowel syndrome 1 tmpak2llvmy_mondo_relaxed.owl congenital short bowel syndrome 1|CSBS|congenital short bowel syndrome OMIM:615237|UMLS:C0021847 owl:Class CHEBI:57869 biolink:NamedThing 6-aminopenicillanic acid zwitterion Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl 6-aminopenicillanate|6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate|(2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate owl:Class CHEBI:35238 biolink:NamedThing amino acid zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. tmpak2llvmy_mondo_relaxed.owl amino acid zwitterion owl:Class MONDO:0010190 biolink:NamedThing pontocerebellar hypoplasia type 2A tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|TSEN54 pontocerebellar hypoplasia type 2|Volendam neurodegenerative disease|PCH2A|microcephaly pontocerebellar hypoplasia dyskinesia|pontocerebellar hypoplasia, type 2A|Pch2|pontocerebellar hypoplasia with progressive cerebral atrophy OMIM:277470|DOID:0060267|GARD:0003631|MESH:C564738 https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia owl:Class MONDO:0016759 biolink:NamedThing pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. tmpak2llvmy_mondo_relaxed.owl progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy|PCH2 NCIT:C124057|Orphanet:2524|ICD10:Q04.3|GARD:0010705|SCTID:715463008|MESH:C548070|UMLS:C2932714 https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 owl:Class NCBITaxon:1639119 biolink:NamedThing Plasmodiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5819 biolink:NamedThing Haemosporida tmpak2llvmy_mondo_relaxed.owl Haemospororida|haemosporidians|Haemosporina GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013801 biolink:NamedThing developmental and epileptic encephalopathy, 13 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 13|EIEE13|SCN8A epilepsy|epileptic encephalopathy, early infantile, type 13|SCN8A encephalopathy|SCN8A early infantile epileptic encephalopathy|DEE13|early infantile epileptic encephalopathy caused by mutation in SCN8A|early infantile epileptic encephalopathy-13 UMLS:C3281191|SCTID:765170001|DOID:0080445|OMIM:614558|GARD:0013085 owl:Class GO:0097186 biolink:NamedThing amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. tmpak2llvmy_mondo_relaxed.owl enamel development owl:Class OBO:CHR_9606-chr18p biolink:NamedThing chr18p (Human) tmpak2llvmy_mondo_relaxed.owl 18500000 0 hg38 owl:Class MONDO:0015068 biolink:NamedThing neuroendocrine tumor of rectum, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. tmpak2llvmy_mondo_relaxed.owl neuroendocrine tumor of the rectum|rectal neuroendocrine tumor UMLS:CN197361|NCIT:C135213 owl:Class MONDO:0000386 biolink:NamedThing digestive system neuroendocrine tumor, grade 1/2 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. tmpak2llvmy_mondo_relaxed.owl GINET|alimentary part of gastrointestinal system neuroendocrine tumor|gastrointestinal NET|gastrointestinal neuroendocrine tumor|gastroenteropancreatic neuroendocrine tumor|gastrointestinal system neuroendocrine tumor|malignant gastrointestinal neuroendocrine tumor|gastroenteropancreatic NET|gastrointestinal neuroendocrine tumors|digestive system NET|digestive system well differentiated neuroendocrine tumor|digestive system neuroendocrine tumor NCIT:C95404|ONCOTREE:GINET|DOID:0050626|UMLS:C2987127 owl:Class MONDO:0024271 biolink:NamedThing intestinal helminthiasis A parasitic helminthiasis infectious disease that involves the intestine. tmpak2llvmy_mondo_relaxed.owl intestine parasitic helminthiasis infectious disease UMLS:C0348287|SCTID:26249004|MESH:C531698 owl:Class MONDO:0010910 biolink:NamedThing enuresis, nocturnal, 1 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. tmpak2llvmy_mondo_relaxed.owl Bedwetting|ENUR1|enuresis, nocturnal, 1 OMIM:600631 owl:Class GO:0099578 biolink:NamedThing regulation of translation at postsynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032749 biolink:NamedThing deafness, autosomal recessive 94 tmpak2llvmy_mondo_relaxed.owl DFNB94|DEAFNESS, AUTOSOMAL RECESSIVE 94 DOID:0111641|OMIM:618434 owl:Class NCBITaxon:554915 biolink:NamedThing Amoebozoa tmpak2llvmy_mondo_relaxed.owl PMID:23020233|PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2759 biolink:NamedThing Eukaryota tmpak2llvmy_mondo_relaxed.owl eukaryotes|Eucaryotae|eucaryotes|Eukaryotae|Eucarya|Eukarya PMID:30257078|GC_ID:1|PMID:23020233 ncbi_taxonomy owl:Class CL:0002680 biolink:NamedThing PP cell of intestine A PP cell found in intestine. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-09-27T11:59:01Z cell owl:Class OBO:CHR_9606-chr17q21 biolink:NamedThing chr17q21 (Human) tmpak2llvmy_mondo_relaxed.owl 52100000 39800000 hg38 owl:Class MONDO:0015017 biolink:NamedThing anterior segment dysgenesis 8 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. tmpak2llvmy_mondo_relaxed.owl ASGD8|anterior segment dysgenesis type 8|anterior segment dysgenesis 8|anterior segment dysgenesis caused by mutation in CPAMD8|CPAMD8 anterior segment dysgenesis UMLS:C4310622|OMIM:617319|DOID:0080613 owl:Class UBERON:0003460 biolink:NamedThing arm bone A bone that is part of the region of the forelimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia tmpak2llvmy_mondo_relaxed.owl bone of arm|arm bone organ|bone organ of arm|bone of upper extremity owl:Class GO:0097060 biolink:NamedThing synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098590 biolink:NamedThing plasma membrane region A membrane that is a (regional) part of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl region of plasma membrane owl:Class HP:0010514 biolink:NamedThing Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:10649000|UMLS:C0020506|MSH:D006964 peter 2009-09-19T04:14:54Z human_phenotype owl:Class HP:0011747 biolink:NamedThing Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl Pituitary disease UMLS:C4023206|UMLS:C0032002|SNOMEDCT_US:399244003|MSH:D010900 peter 2012-04-22T11:17:00Z human_phenotype owl:Class MONDO:0010912 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene. tmpak2llvmy_mondo_relaxed.owl Feom3 locus|CFEOM3A|TUBB3 congenital fibrosis of extraocular muscles|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|congenital fibrosis of extraocular muscles caused by mutation in TUBB3 MESH:C567572|OMIM:600638|UMLS:C2748801 owl:Class MONDO:0013562 biolink:NamedThing aspergillosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl susceptibility to aspergillosis|aspergillosis, susceptibility to OMIM:614079 owl:Class MONDO:0010881 biolink:NamedThing mesomelia-synostoses syndrome Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. tmpak2llvmy_mondo_relaxed.owl monosomy 8q13|mesomelic dysplasia, syndromic|chromosome 8Q13 deletion syndrome|mesomelia-synostoses syndrome|8q13 microdeletion syndrome|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|Verloes-David syndrome|Del(8)q(13)|mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|mesomelia synostoses UMLS:C1838162|OMIM:600383|MESH:C537348|ICD10:Q74.8|SCTID:724147004|Orphanet:2496|GARD:0004302 https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome owl:Class MONDO:0016907 biolink:NamedThing partial deletion of the long arm of chromosome 8 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 8q|deletion 8q|partial deletion of the long arm of chromosome type 8|8q monosomy|partial monosomy 8q|8q deletion|partial deletion of chromosome 8q|partial monosomy of the long arm of chromosome 8|chromosome 8q deletion|monosomy 8q UMLS:C0795828|ICD10:Q93.5|Orphanet:262065|GARD:0003770|MESH:C537828 owl:Class MONDO:0020355 biolink:NamedThing coloboma of eye lens tmpak2llvmy_mondo_relaxed.owl Orphanet:98943|GARD:0001433|ICD10:Q12.2 https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens owl:Class MONDO:0001476 biolink:NamedThing coloboma An abnormality in which a part of a structure in one or both eyes is missing. tmpak2llvmy_mondo_relaxed.owl coloboma of macula|coloboma of eye|ocular coloboma|coloboma of the eye|congenital ocular coloboma MESH:D003103|SCTID:93390002|DOID:12270|ICD10:Q13.0|ICD9:743.49|NCIT:C98877|Orphanet:194 owl:Class MONDO:0017715 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E71.3|OMIM:231530|Orphanet:309127 owl:Class MONDO:0017713 biolink:NamedThing disorder of fatty acid oxidation and ketogenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:309115|ICD10:E71.3|UMLS:CN227183 owl:Class MONDO:0010331 biolink:NamedThing coronary heart disease, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl coronary heart disease, susceptibility to, type 3|coronary heart disease, susceptibility to, 3|Chds3 OMIM:300464 owl:Class MONDO:0013113 biolink:NamedThing metaphyseal anadysplasia 2 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. tmpak2llvmy_mondo_relaxed.owl metaphyseal anadysplasia type 2|MMP9 metaphyseal anadysplasia|metaphyseal anadysplasia 2|MANDP2|metaphyseal anadysplasia caused by mutation in MMP9 OMIM:613073|MESH:C567771|UMLS:C2751322 owl:Class MONDO:0005429 biolink:NamedThing prion disease A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. tmpak2llvmy_mondo_relaxed.owl spongiform encephalopathy|prion induced disorder|prion protein disease|prion disease pathway ICD9:046.19|MESH:D017096|ICD10:A81.9|SCTID:230284004|KEGG:05020|EFO:0004720|NCIT:C128346|DOID:649 Editor note: check relationship to spongiform encephalopathy NCIT:C27585 owl:Class MONDO:0024619 biolink:NamedThing central nervous system infectious disorder An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. tmpak2llvmy_mondo_relaxed.owl infections, central nervous system|central nervous system infectious disease|central nervous system infection|central nervous system infectious disorder|infectious disease of central nervous system UMLS:C0007684|NCIT:C27582|ICD9:349.89|SCTID:128117002|EFO:1001456|MESH:D002494 owl:Class MONDO:0006653 biolink:NamedThing anthracosilicosis Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. tmpak2llvmy_mondo_relaxed.owl SCTID:33548005|EFO:1000813|ICD10:J60|CSP:2596-4484|MedDRA:10050363|DOID:10324|UMLS:C0003164|MESH:D000874|NCIT:C34389 owl:Class MONDO:0014748 biolink:NamedThing progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl SEMDFA|spondyloepimetaphyseal dysplasia, faden-ALKURAYA type|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-Alkuraya type|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis UMLS:C4225232|OMIM:616723|Orphanet:457395 owl:Class HGNC:1041 biolink:NamedThing BFSP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005333 biolink:NamedThing hyperthyroxinemia Abnormally elevated thyroxine level in the blood. tmpak2llvmy_mondo_relaxed.owl MESH:D006981|DOID:2855|EFO:0004127|UMLS:C0020551|HGNC:399 owl:Class MONDO:0003240 biolink:NamedThing thyroid gland disease A disease involving the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid disease|disease or disorder of thyroid gland|thyroid gland disorder|disorder of thyroid gland|disease of thyroid gland|thyroid gland disorders|thyroid gland disease or disorder|thyroid gland diseases|thyroid gland disease ICD9:240-246.99|NCIT:C26893|ICD10:E00.E07|ICD9:246.9|ICD9:246.8|UMLS:C0040128|DOID:50|Wikipedia:Thyroid_disease|MESH:D013959|ICD10:E07.9|SCTID:14304000|ICD10:E00-E07|EFO:1000627 owl:Class GO:0042181 biolink:NamedThing ketone biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpak2llvmy_mondo_relaxed.owl ketone anabolism|ketone formation|ketone synthesis|ketone biosynthesis owl:Class MONDO:0013475 biolink:NamedThing hypertrophic cardiomyopathy 18 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 18|PLN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy familial hypertrophic 18|CMH18|hypertrophic cardiomyopathy type 18 UMLS:C3151265|DOID:0110324|OMIM:613874 owl:Class MONDO:0044311 biolink:NamedThing brachycephaly, trichomegaly, and developmental delay BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). tmpak2llvmy_mondo_relaxed.owl Macinnes syndrome|BTDD|brachycephaly, trichomegaly, and developmental delay UMLS:C4479431|OMIM:617412 owl:Class MONDO:0000996 biolink:NamedThing prostate lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostate lymphoma|lymphoma of prostate gland|lymphoma of prostate|prostate gland lymphoma|primary prostate lymphoma|lymphoma of the prostate UMLS:C1335512|NCIT:C5533|DOID:10290 owl:Class GO:0004565 biolink:NamedThing beta-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. tmpak2llvmy_mondo_relaxed.owl maxilact|exo-(1->4)-beta-D-galactanase activity|lactose hydrolysis|oryzatym|sumiklat|beta-D-galactanase activity|beta-lactosidase activity|beta-D-lactosidase activity|trilactase activity|hydrolact|beta-D-galactoside galactohydrolase activity|S 2107|lactozym owl:Class GO:0015925 biolink:NamedThing galactosidase activity Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021316 biolink:NamedThing malignant tumor of minor salivary gland A cancer that involves the minor salivary gland. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the minor salivary gland|cancer of minor salivary gland|minor salivary gland cancer|malignant minor salivary gland tumor|malignant minor salivary gland neoplasm|malignant neoplasm of the minor salivary gland|malignant neoplasm of minor salivary gland UMLS:C0345614|SCTID:363485006|NCIT:C4410 owl:Class MONDO:0021370 biolink:NamedThing neoplasm of minor salivary gland A neoplasm (disease) that involves the minor salivary gland. tmpak2llvmy_mondo_relaxed.owl tumor of the minor salivary gland|minor salivary gland neoplasm|tumor of minor salivary gland|minor salivary gland neoplasm (disease)|neoplasm of minor salivary gland|neoplasm of the minor salivary gland|minor salivary gland tumor NCIT:C4409|UMLS:C0345613|SCTID:126798006 owl:Class GO:0005594 biolink:NamedThing collagen type IX trimer A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005593 biolink:NamedThing FACIT collagen trimer A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006708 biolink:NamedThing Desulfovibrionaceae infectious disease Infections with bacteria of the family Desulfovibrionaceae. tmpak2llvmy_mondo_relaxed.owl Lawsonia infection|Desulfovibrio infection|infections, Bilophila|infections, Desulfovibrio|infection, Lawsonia|commensal Bilophila infection|infection, Desulfovibrionaceae|Desulfovibrio infections|infections, Lawsonia|Desulfovibrionaceae infection|Desulfovibrionaceae disease or disorder|Lawsonia infections|infection, Bilophila|infections, Desulfovibrionaceae|Desulfovibrionaceae caused disease or disorder|Bilophila infections|Bilophila infection|infection, Desulfovibrio EFO:1000875|MESH:D045824 owl:Class MONDO:0002483 biolink:NamedThing breast myoepithelial tumor A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. tmpak2llvmy_mondo_relaxed.owl breast myoepithelial neoplasm|breast myoepithelial tumor UMLS:C1511319|NCIT:C40389|DOID:3004 owl:Class MONDO:0005111 biolink:NamedThing Epstein-Barr virus infection An infection that is caused by Epstein-Barr virus. tmpak2llvmy_mondo_relaxed.owl EBV infection|Human Herpesvirus 4 infections|Epstein Barr Virus infections|Virus infections, Epstein-Barr|Herpesvirus 4 infections, Human|infections, Epstein-Barr Virus|Human gammaherpesvirus 4 infectious disease|EBV infections|Epstein-Barr Virus infection|Human gammaherpesvirus 4 caused disease or disorder|infections, EBV|Human gammaherpesvirus 4 disease or disorder|Human Herpes Virus 4 infections MESH:D020031|EFO:0000769|NCIT:C38759|UMLS:C0149678 owl:Class MONDO:0007689 biolink:NamedThing guanylate kinase 3 tmpak2llvmy_mondo_relaxed.owl guanylate kinase type 3|guanylate kinase 3|GUK3|guanylate KINASE 3 OMIM:139290 owl:Class MONDO:0021053 biolink:NamedThing carotid body paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. tmpak2llvmy_mondo_relaxed.owl paraganglioma of the carotid body|chemodectoma|carotid body tumor|tumor of the carotid body|paraganglioma of carotid body|tumor of carotid body|carotid body paraganglioma|chemodectoma, undetermined|carotid body chemodectoma UMLS:C0007279|GARD:0010598|NCIT:C2932|ICDO:8692/1 owl:Class MONDO:0004273 biolink:NamedThing breast apocrine adenoma A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. tmpak2llvmy_mondo_relaxed.owl apocrine adenoma of breast|breast apocrine adenoma DOID:7540|UMLS:C1388299|NCIT:C40383 owl:Class MONDO:0002804 biolink:NamedThing apocrine adenoma A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. tmpak2llvmy_mondo_relaxed.owl tubular apocrine adenoma UMLS:C0334345|NCIT:C4168|ICDO:8401/0|SCTID:307596009|DOID:3895 owl:Class OBO:CHR_9606-chrXp22.3 biolink:NamedThing chrXp22.3 (Human) tmpak2llvmy_mondo_relaxed.owl 9600000 0 hg38 owl:Class GO:0002709 biolink:NamedThing regulation of T cell mediated immunity Any process that modulates the frequency, rate, or extent of T cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity|regulation of T-lymphocyte mediated immunity owl:Class MONDO:0009483 biolink:NamedThing kapur-Toriello syndrome Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. tmpak2llvmy_mondo_relaxed.owl long columella with cleft lip/palate and eye, heart and intestinal anomalies|kapur Toriello syndrome|long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur-Toriello syndrome SCTID:722031003|ICD10:Q87.8|GARD:0003078|Orphanet:2328|OMIM:244300|UMLS:C0796005|MESH:C537008 https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome owl:Class GO:0045982 biolink:NamedThing negative regulation of purine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. tmpak2llvmy_mondo_relaxed.owl inhibition of purine base metabolic process|down regulation of purine base metabolic process|down-regulation of purine base metabolic process|negative regulation of purine base metabolism|negative regulation of purine base metabolic process|downregulation of purine base metabolic process owl:Class GO:0045934 biolink:NamedThing negative regulation of nucleobase-containing compound metabolic process Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class CL:0009029 biolink:NamedThing mesothelial cell of appendix A mesothelial cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendix mesothelial cell|mesothelial cell of vermiform appendix|mesothelial cell of appendix vermiformis owl:Class CL:0009025 biolink:NamedThing mesothelial cell of large intestine A mesothelial cell that is part of the large intestine.|A mesothelial cell that is part of the colon. tmpak2llvmy_mondo_relaxed.owl mesothelial cell of large intestine owl:Class MONDO:0011470 biolink:NamedThing hyperlipidemia, combined, 2 tmpak2llvmy_mondo_relaxed.owl hyperlipidemia, combined, 2|hyplip2|hyperlipidemia, familial combined, 2|hyperlipidemia, combined, type 2 UMLS:C1858308|OMIM:604499|MESH:C565766 owl:Class HGNC:3327 biolink:NamedThing ELN tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032103 biolink:NamedThing positive regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl stimulation of response to external stimulus|up regulation of response to external stimulus|upregulation of response to external stimulus|activation of response to external stimulus|up-regulation of response to external stimulus owl:Class GO:0032101 biolink:NamedThing regulation of response to external stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35344 biolink:NamedThing 21-hydroxy steroid tmpak2llvmy_mondo_relaxed.owl 21-hydroxysteroids|21-Hydroxysteroid|21-hydroxy steroids owl:Class CHEBI:35350 biolink:NamedThing hydroxy steroid tmpak2llvmy_mondo_relaxed.owl hydroxysteroids|hydroxy steroids|Hydroxysteroid owl:Class MONDO:0020971 biolink:NamedThing gonococcal urethritis Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. tmpak2llvmy_mondo_relaxed.owl Gonococcal urethritis|gc urethritis|gonococcal urethritis NCIT:C26787|SCTID:236682002|UMLS:C0018078 owl:Class MONDO:0021477 biolink:NamedThing benign neoplasm of sphenoidal sinus A non-metastasizing neoplasm that arises from the sphenoid sinus. tmpak2llvmy_mondo_relaxed.owl benign sphenoid sinus neoplasm|benign neoplasm of the sphenoid sinus|benign tumor of sphenoid sinus|benign sphenoidal sinus tumor|benign sphenoid sinus tumor|benign neoplasm of the sphenoidal sinus|sphenoidal sinus benign neoplasm|benign tumor of the sphenoidal sinus|benign tumor of the sphenoid sinus|benign sphenoidal sinus neoplasm|benign neoplasm of sphenoid sinus|benign tumor of sphenoidal sinus NCIT:C4422|UMLS:C0345678|ICD9:212.0|SCTID:92404006 owl:Class UBERON:0035371 biolink:NamedThing retroperitoneal lymph node A lymph node located in the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl retroperitoneal node owl:Class UBERON:0002075 biolink:NamedThing viscus An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. tmpak2llvmy_mondo_relaxed.owl visceral organ|splanchnic tissue|visceral organ system|visceral tissue|viscera owl:Class MONDO:0012618 biolink:NamedThing intellectual disability, autosomal recessive 10 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 10|MRT10|mental retardation, autosomal recessive 10|intellectual disability, autosomal recessive 20|mental retardation, autosomal recessive 20 OMIM:611096|MESH:C567013|UMLS:C1970194 owl:Class MONDO:0007208 biolink:NamedThing Boomerang dysplasia Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. tmpak2llvmy_mondo_relaxed.owl Boomerang-like skeletal dysplasia|Boomerang dysplasia|dwarfism with short, bowed, rigid limbs and characteristic facies ICD9:756.9|OMIM:112310|Orphanet:1263|DOID:0050680|GARD:0000933|SCTID:254054000|MESH:C536573|UMLS:C0432201|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia owl:Class MONDO:0019690 biolink:NamedThing filamin-related bone disorder tmpak2llvmy_mondo_relaxed.owl bone filaminopathy Orphanet:93425|UMLS:CN227676 owl:Class HP:0000763 biolink:NamedThing Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. tmpak2llvmy_mondo_relaxed.owl Damage to nerves that sense feeling|Peripheral sensory neuropathy UMLS:C0151313|SNOMEDCT_US:95662005 HP:0006815|HP:0003410|HP:0007142|HP:0007043 human_phenotype owl:Class HP:0009830 biolink:NamedThing Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. tmpak2llvmy_mondo_relaxed.owl Peripheral nerve damage|Neuropathy|Peripheral neuritis SNOMEDCT_US:42658009|UMLS:C0442874|UMLS:C0031117|SNOMEDCT_US:386033004|SNOMEDCT_US:302226006|MSH:D010523 Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. peter 2009-03-01T07:49:18Z HP:0007235|HP:0007355|HP:0003407|HP:0007088|HP:0003157 human_phenotype owl:Class MONDO:0014902 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 3 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene. tmpak2llvmy_mondo_relaxed.owl nasopharyngeal carcinoma caused by mutation in MST1R|MST1R nasopharyngeal carcinoma|NPCA3|nasopharyngeal carcinoma, susceptibility to, 3|nasopharyngeal carcinoma, susceptibility to, type 3|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|susceptibility to nasopharyngeal carcinoma 3 OMIM:617075 owl:Class MONDO:0018487 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CXCR2 deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:D70|Orphanet:420699 owl:Class MONDO:0004225 biolink:NamedThing monoclonal gammopathy of uncertain significance A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. tmpak2llvmy_mondo_relaxed.owl monoclonal gammopathy Of undetermined significance (MGUS)|monoclonal gammopathy of undetermined significance (morphologic abnormality)|MGUS|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (MGUS)|benign monoclonal gammopathy|monoclonal gammopathy, benign MESH:D008998|DOID:7442|SCTID:277577000|SCTID:58648008|NCIT:C3996|EFO:1000836|ICDO:9765/1|UMLS:C0026470|ICD9:238.6|GARD:0007034|ONCOTREE:MGUS owl:Class MONDO:0004960 biolink:NamedThing monoclonal gammopathy A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine. tmpak2llvmy_mondo_relaxed.owl SCTID:109983007|EFO:0000203|ICD10:D47.2|MESH:D010265|NCIT:C35548 owl:Class MONDO:0015324 biolink:NamedThing cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. tmpak2llvmy_mondo_relaxed.owl Karandikar Maria Kamble syndrome|cataract intellectual disability anal atresia urinary defects|cataract mental retardation anal atresia urinary defects|congenital cataract with multiple congenital anomalies in a sibship|Karandikar-Maria-Kamble syndrome Orphanet:1381|SCTID:715989002|UMLS:C2931391|ICD10:Q87.8|MESH:C537009|GARD:0000192 owl:Class HGNC:13444 biolink:NamedThing SLC2A10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002172 biolink:NamedThing otosalpingitis An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. tmpak2llvmy_mondo_relaxed.owl pharyngotympanic tube inflammation|inflammation of pharyngotympanic tube|Eustachian salpingitis|Eustachian tube salpingitis DOID:2000|ICD9:381.50|SCTID:270491006|ICD9:381.5|ICD10:H68.009|ICD10:H68.00|UMLS:C0155428|ICD10:H68.0 owl:Class MONDO:0004866 biolink:NamedThing eustachian tube disease A disease involving the pharyngotympanic tube. tmpak2llvmy_mondo_relaxed.owl auditory tube disorder|disease or disorder of pharyngotympanic tube|eustachian tube disorder|disorder of eustachian tube|disease of eustachian tube|disease of pharyngotympanic tube|pharyngotympanic tube disease or disorder|disorder of pharyngotympanic tube|pharyngotympanic tube disease ICD9:381.89|DOID:9739|ICD9:381.9|SCTID:69494008|UMLS:C0271468|ICD10:H68|ICD9:381.8 owl:Class MONDO:0008286 biolink:NamedThing crossed polysyndactyly Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. tmpak2llvmy_mondo_relaxed.owl crossed polydactyly|polysyndactyly, crossed UMLS:C1867999|ICD10:Q70.4|OMIM:175690|MESH:C566773|GARD:0001617|Orphanet:2935 https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly owl:Class HGNC:315 biolink:NamedThing AFG3L2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002823 biolink:NamedThing negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002149 biolink:NamedThing epithelial cell of uterus An epithelial cell of the uterus. tmpak2llvmy_mondo_relaxed.owl FMA:256161 tmeehan 2010-08-24T10:45:54Z CL:1000294 cell owl:Class UBERON:0016511 biolink:NamedThing lamina propria of fundus of stomach A lamina propria that is part of a mucosa of fundus of stomach. tmpak2llvmy_mondo_relaxed.owl lamina propria mucosae of fundus of stomach owl:Class CHEBI:48706 biolink:NamedThing antagonist Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. tmpak2llvmy_mondo_relaxed.owl antagonista|antagonist|antagonists|antagoniste owl:Class CHEBI:52210 biolink:NamedThing pharmacological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019101 biolink:NamedThing retinal capillary malformation Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. tmpak2llvmy_mondo_relaxed.owl Orphanet:71213|ICD10:D18.0 owl:Class HGNC:1515 biolink:NamedThing CAST tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:37949 biolink:NamedThing azacycloalkane tmpak2llvmy_mondo_relaxed.owl azacycloalkanes owl:Class MONDO:0004045 biolink:NamedThing pediatric intraocular retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. tmpak2llvmy_mondo_relaxed.owl intraocular retinoblastoma of childhood|childhood intraocular retinoblastoma|pediatric intraocular retinoblastoma|intraocular retinoblastoma DOID:6938|UMLS:C1321869|NCIT:C9047 owl:Class MONDO:0006416 biolink:NamedThing small intestinal Burkitt lymphoma A Burkitt lymphoma that arises from the small intestine. tmpak2llvmy_mondo_relaxed.owl Burkitts lymphoma of small intestine|Burkitt lymphoma of small intestine|small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt lymphoma|small intestine Burkitts lymphoma|small intestinal Burkitt lymphoma UMLS:C1335991|EFO:1000533|NCIT:C27409 owl:Class GO:0060406 biolink:NamedThing positive regulation of penile erection Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000870 biolink:NamedThing regulation of progesterone secretion Any process that modulates the frequency, rate or extent of progesterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004932 biolink:NamedThing submucosa of sigmoid colon A submucosa that is part of a sigmoid colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl sigmoid colon submucosa owl:Class UBERON:0005720 biolink:NamedThing hindbrain venous system A venous system that is part of a hindbrain. tmpak2llvmy_mondo_relaxed.owl rhombencephalon venous system owl:Class HGNC:3239 biolink:NamedThing EGR2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904362 biolink:NamedThing regulation of calcitonin secretion Any process that modulates the frequency, rate or extent of calcitonin secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054680 biolink:NamedThing epiphyseal dysplasia, multiple, 7 tmpak2llvmy_mondo_relaxed.owl EDM7|multiple epiphyseal dysplasia 7|epiphyseal dysplasia, multiple, 7 OMIM:617719|DOID:0070302 owl:Class MONDO:0016648 biolink:NamedThing multiple epiphyseal dysplasia Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. tmpak2llvmy_mondo_relaxed.owl multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple|Polyepiphyseal dysplasia|multiple epiphyseal dysplasia|EDM|polyepiphyseal dysplasia|MED multiple epiphyseal dysplasia (disease) OMIMPS:132400|MedDRA:10028197|HP:0002654|ICD9:756.56|Orphanet:251|DOID:12721|ICD10:Q77.3|GARD:0010756|SCTID:59708000 owl:Class MONDO:0007837 biolink:NamedThing Johnson neuroectodermal syndrome Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl Johnson neuroectodermal syndrome|alopecia anosmia deafness hypogonadism syndrome|Johnson-McMillin syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Aadh syndrome ICD10:Q87.8|SCTID:721584005|GARD:0000378|UMLS:C0796002|MESH:C535882|Orphanet:2316|OMIM:147770 https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome owl:Class GO:2001141 biolink:NamedThing regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of RNA anabolism|regulation of RNA biosynthesis|regulation of RNA formation|regulation of RNA synthesis owl:Class MONDO:0100330 biolink:NamedThing disease arising from reactivation of latent virus An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase. tmpak2llvmy_mondo_relaxed.owl latent infection http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3251|https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0000088 biolink:NamedThing precocious puberty Unusually early sexual maturity. tmpak2llvmy_mondo_relaxed.owl familial precocious puberty|pubertas praecox|idiopathic sexual precocity|sexual precocity HP:0000826|NCIT:C79704|ICD9:259.1|MESH:D011629|MedDRA:10058084|MedDRA:10044701|UMLS:C0034013|Orphanet:95708|GARD:0007446|SCTID:400179000|ICD10:E30.1|ICD10:E22.8 https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty owl:Class MONDO:0001011 biolink:NamedThing breast cyst A cystic lesion located in breast tissue. tmpak2llvmy_mondo_relaxed.owl cyst of the breast ICD10:N60.0|SCTID:399294002|EFO:1000848|MESH:D047688|DOID:10350 owl:Class MONDO:0008870 biolink:NamedThing bird headed-dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. tmpak2llvmy_mondo_relaxed.owl premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism, Montreal type|Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type GARD:0000895|ICD10:Q87.1|UMLS:C1859468|OMIM:210700|MESH:C535448|Orphanet:2617 owl:Class MONDO:0020304 biolink:NamedThing isochromosomy Yp Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. tmpak2llvmy_mondo_relaxed.owl Orphanet:98797|ICD10:Q98.6|SCTID:766708008 owl:Class MONDO:0019935 biolink:NamedThing isochromosome Y tmpak2llvmy_mondo_relaxed.owl Isochromosome type Y Orphanet:96325|ICD10:Q98.6 owl:Class MONDO:0012088 biolink:NamedThing primary ciliary dyskinesia 5 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in HYDIN|primary ciliary dyskinesia 5 without situs inversus|primary ciliary dyskinesia type 5|ciliary dyskinesia, primary, 5|ciliary dyskinesia, primary, type 5|CILD5|ciliary dyskinesia, primary, 5, without situs inversus|HYDIN primary ciliary dyskinesia MESH:C563886|UMLS:C1837615|OMIM:608647|ICD10:Q34.8|DOID:0110617 owl:Class MONDO:0013893 biolink:NamedThing multiple sclerosis, susceptibility to, 5 Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene. tmpak2llvmy_mondo_relaxed.owl multiple sclerosis, susceptibility to, type 5|multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|susceptibility to multiple sclerosis 5|multiple sclerosis, susceptibility to, 5|MS5|TNFRSF1A multiple sclerosis, susceptibility to OMIM:614810 owl:Class MONDO:0007462 biolink:NamedThing multiple sclerosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl MS|disseminated sclerosis OMIMPS:126200 owl:Class MONDO:0021039 biolink:NamedThing extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpak2llvmy_mondo_relaxed.owl extraosseous Ewing's tumor|extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor NCIT:C27293|EFO:1000250|UMLS:C1333514|DOID:4985 owl:Class GO:0042635 biolink:NamedThing positive regulation of hair cycle Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpak2llvmy_mondo_relaxed.owl up regulation of hair cycle|up-regulation of hair cycle|activation of hair cycle|upregulation of hair cycle|stimulation of hair cycle owl:Class CL:0000626 biolink:NamedThing olfactory granule cell Granule cell that is part of the olfactory bulb. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000120 biolink:NamedThing granule cell tmpak2llvmy_mondo_relaxed.owl BTO:0003393 cell owl:Class MONDO:0007403 biolink:NamedThing inherited Creutzfeldt-Jakob disease Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. tmpak2llvmy_mondo_relaxed.owl Creutzfeldt-Jakob disease|CJD|Creutzfeldt-Jakob disease, familial|hereditary Creutzfeldt Jacob disease|inherited CJD|Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease, Heidenhain variant|Creutzfeldt-Jakob disease, sporadic ICD10:A81.0|UMLS:CN202816|OMIM:123400|Orphanet:282166|SCTID:715807002 owl:Class MONDO:0005357 biolink:NamedThing Creutzfeldt Jacob disease A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. tmpak2llvmy_mondo_relaxed.owl Jakob-Creutzfeldt disease|Creutzfeldt-Jakob disease|CJD (Creutzfeldt Jakob disease)|Subacute spongiform encephalopathy|transmissible virus dementia|Creutzfeldt Jacob syndrome|classic Creutzfeldt-Jakob disease|Creutzfeldt-Jacob disease|Creutzfeldt Jakob disease|CJD EFO:0004226|DOID:11949|SCTID:792004|NCIT:C26802|MESH:D007562|ICD9:046.19|ICD10:A81.0|GARD:0006956|ICD9:046.1|ICD10:A81.00 owl:Class NCBITaxon:1129771 biolink:NamedThing Leptotrichiaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:203491 biolink:NamedThing Fusobacteriales tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0043510 biolink:NamedThing brain injury Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. tmpak2llvmy_mondo_relaxed.owl brain Traumas|brain injury|brain trauma|injury of brain MESH:D001930 owl:Class MONDO:0021454 biolink:NamedThing benign neoplasm of eye A benign neoplasm that involves the eye. tmpak2llvmy_mondo_relaxed.owl benign tumor of eye|eye benign neoplasm|benign tumor of the eye|benign eye tumor|benign neoplasm of the eye|benign ocular neoplasm|benign ocular tumor|benign eye neoplasm ICD9:224.0|SCTID:92097004|UMLS:C0496897|ICD9:224.9|NCIT:C4780|ICD9:224.8 owl:Class MONDO:0021220 biolink:NamedThing eye neoplasm A neoplasm (disease) that involves the eye. tmpak2llvmy_mondo_relaxed.owl neoplasm of eye|ocular tumor|eye neoplasm (disease)|tumor of eye|eye tumor|neoplasm of the eye|eyeball of camera-type eye tumor|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye neoplasm|ocular neoplasm|tumor of the eye|tumor of eyeball of camera-type eye ONCOTREE:EYE|NCIT:C3030 owl:Class MONDO:0001290 biolink:NamedThing allergic cutaneous vasculitis Inflammation of the small vessels of the skin that is mediated by the immune system. tmpak2llvmy_mondo_relaxed.owl allergic cutaneous angiitis|autoimmune hypersensitivity angiitis DOID:11450|NCIT:C35119 owl:Class MONDO:0020576 biolink:NamedThing cutaneous vasculitis Inflammation of the blood vessel wall characterized by palpable purpura. tmpak2llvmy_mondo_relaxed.owl cutaneous vasculitis UMLS:C0262988|NCIT:C112210 owl:Class NCBITaxon:482538 biolink:NamedThing Cystoisospora belli tmpak2llvmy_mondo_relaxed.owl Isospora belli GC_ID:1 NCBITaxon:59309 ncbi_taxonomy owl:Class NCBITaxon:242060 biolink:NamedThing Cystoisospora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012269 biolink:NamedThing chromosome 3q29 microdeletion syndrome 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. tmpak2llvmy_mondo_relaxed.owl microdeletion 3Q29 syndrome|3qter deletion|3q29 microdeletion syndrome|monosomy 3q29|chromosome 3q29 deletion syndrome|3q29 deletion|3q29 deletion syndrome|Del(3)(q29)|3q subtelomere deletion syndrome|monosomy 3qter GARD:0011974|MESH:C567184|ICD10:Q93.5|SCTID:716456000|OMIM:609425|Orphanet:65286|UMLS:C2674949|DOID:0060419 owl:Class MONDO:0018246 biolink:NamedThing homozygous 2p21 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl 2p21 contiguous gene deletion syndrome UMLS:CN204808|Orphanet:369886|ICD10:Q93.5 owl:Class MONDO:0015583 biolink:NamedThing 2p21 microdeletion syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. tmpak2llvmy_mondo_relaxed.owl Del(2)(p21)|2p21 deletion syndrome|monosomy 2p21 SCTID:719652007|UMLS:CN199952|UMLS:C4304537|Orphanet:163693|ICD10:Q93.5 https://github.com/monarch-initiative/mondo/issues/3777 owl:Class MONDO:0008403 biolink:NamedThing scalp defects-postaxial polydactyly syndrome Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A. tmpak2llvmy_mondo_relaxed.owl scalp defects and postaxial polydactyly|scalp defects postaxial polydactyly|congenital scalp defects associated with postaxial polydactyly UMLS:C1867021|Orphanet:1003|MESH:C536622|ICD10:Q87.2|OMIM:181250|GARD:0000241 owl:Class MONDO:0019294 biolink:NamedThing mixed dermis disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:79380|UMLS:CN227617 Editor note: check if genetic owl:Class MONDO:0004582 biolink:NamedThing rheumatic myocarditis Inflammation of the myocardium in acute rheumatic heart disease. tmpak2llvmy_mondo_relaxed.owl rheumatic myocarditis|active rheumatic fever with myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|rheumatoid myocarditis|acute rheumatic carditis|acute rheumatic myocarditis|rheumatic fever with myocarditis|rheumatic degeneration of myocardium ICD10:I09.0|ICD10:I01.9|ICD9:398.0|UMLS:C0155557|SCTID:195136004|ICD10:M05.3|DOID:8481|ICD9:391.9|NCIT:C35202 owl:Class MONDO:0022519 biolink:NamedThing autoimmune myocarditis Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. tmpak2llvmy_mondo_relaxed.owl GARD:0009519 owl:Class MONDO:0003721 biolink:NamedThing kidney osteogenic sarcoma An osteosarcoma arising from the kidney. tmpak2llvmy_mondo_relaxed.owl renal osteosarcoma|osteosarcoma of kidney|osteosarcoma of the kidney|renal extraskeletal osteosarcoma|kidney extraskeletal osteosarcoma|osteogenic sarcoma of the kidney|kidney osteosarcoma (disease)|kidney osteogenic sarcoma|osteogenic sarcoma of kidney|kidney osteosarcoma|renal osteogenic sarcoma UMLS:C1335747|NCIT:C6181|DOID:5983 owl:Class MONDO:0002621 biolink:NamedThing extraosseous osteosarcoma An osteosarcoma arising from the soft tissue. tmpak2llvmy_mondo_relaxed.owl soft tissue osteosarcoma|extraskeletal osteogenic sarcoma|extraskeletal osteosarcoma|extraosseous osteosarcoma|osteosarcoma, extraskeletal, malignant ICD9:170.9|SCTID:404077005|UMLS:C0855052|DOID:3357|NCIT:C8810 owl:Class CL:0002555 biolink:NamedThing fibroblast of mammary gland A fibroblast that is part of the mammary gland. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:18:38Z cell owl:Class FOODON:03315150 biolink:NamedThing mammalian milk product tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F15150 SIREN DB annotation: * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class MONDO:0002092 biolink:NamedThing small intestine leiomyoma A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma, small bowel|leiomyoma of small intestine|small bowel leiomyoma|small intestinal leiomyoma|leiomyoma of small bowel|leiomyoma of the small bowel|small intestine leiomyoma|leiomyoma, small intestine|leiomyoma of the small intestine UMLS:C0238197|SCTID:424279009|NCIT:C7725|DOID:1738 owl:Class MONDO:0009267 biolink:NamedThing Gaucher disease type III Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. tmpak2llvmy_mondo_relaxed.owl cerebral juvenile and adult form of Gaucher disease|Gaucher disease, type 3B|Gaucher disease type 3|Gaucher's disease type III|Gaucher disease, type III|Gaucher disease, type 3A|Gaucher disease, type 3|Gaucher disease, juvenile and adult, cerebral|Gaucher disease, subacute neuronopathic type|Gaucher disease type III|Gaucher disease, chronic neuronopathic type|chronic neuronopathic Gaucher disease|Gaucher disease, Subacute neuronopathic type|GD III|Gd 3|Gaucher disease, Norrbottnian type SCTID:5963005|ICD10:E75.2|Orphanet:77261|DOID:0110959|GARD:0002443|OMIM:231000 owl:Class MONDO:0002966 biolink:NamedThing splenic manifestation of prolymphocytic leukemia A prolymphocytic leukemia that involves the spleen. tmpak2llvmy_mondo_relaxed.owl spleen prolymphocytic leukemia|splenic manifestation of prolymphocytic leukemia|prolymphocytic leukemia of spleen UMLS:C1336066|NCIT:C7297|DOID:4334 owl:Class MONDO:0004107 biolink:NamedThing splenic manifestation of leukemia A leukemia (disease) that involves the spleen. tmpak2llvmy_mondo_relaxed.owl leukemia (disease) of spleen|splenic leukemia|spleen leukemia (disease)|splenic manifestation of leukemia NCIT:C7296|DOID:710|UMLS:C1336065 owl:Class NCBITaxon:2732514 biolink:NamedThing Revtraviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732409 biolink:NamedThing Artverviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045581 biolink:NamedThing negative regulation of T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. tmpak2llvmy_mondo_relaxed.owl down regulation of T cell differentiation|inhibition of T cell differentiation|down-regulation of T cell differentiation|negative regulation of T cell development|downregulation of T cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-lymphocyte differentiation|negative regulation of T-cell differentiation owl:Class CHEBI:33654 biolink:NamedThing alicyclic compound An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpak2llvmy_mondo_relaxed.owl alicyclic compounds owl:Class CHEBI:33653 biolink:NamedThing aliphatic compound Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. tmpak2llvmy_mondo_relaxed.owl aliphatic compounds owl:Class GO:0009161 biolink:NamedThing ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleoside monophosphate metabolism owl:Class MONDO:0000456 biolink:NamedThing cerebral creatine deficiency syndrome Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. tmpak2llvmy_mondo_relaxed.owl cerebral creatine deficiency syndrome|CCDS|CDS|creatine deficiency syndrome DOID:0050798|UMLS:CN227588|OMIMPS:300352|ICD10:E72.8|Orphanet:79172 owl:Class MONDO:0010612 biolink:NamedThing hydrocephaly-cerebellar agenesis syndrome This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. tmpak2llvmy_mondo_relaxed.owl X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|hydrocephalus with cerebellar agenesis|cerebellum agenesis hydrocephaly Orphanet:1397|ICD10:Q04.3|OMIM:307010|GARD:0001200|MESH:C564407|UMLS:C1844005 https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly owl:Class MONDO:0008889 biolink:NamedThing thromboangiitis obliterans Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. tmpak2llvmy_mondo_relaxed.owl inflammatory occlusive peripheral vascular disease|TAO|BUERGER disease|Buerger's disease|thromboangiitis obliterans [Buerger's disease]|occlusive peripheral vascular disease|presenile gangrene|thromboangiitis obliterans MedDRA:10043540|DOID:12918|OMIM:211480|NCIT:C35070|ICD10:I73.1|ICD9:443.1|UMLS:C0040021|Orphanet:36258|EFO:1001211|SCTID:52403007|MESH:D013919|GARD:0005969 owl:Class MONDO:0015489 biolink:NamedThing predominantly medium-vessel vasculitis tmpak2llvmy_mondo_relaxed.owl Orphanet:156143 owl:Class MONDO:0019828 biolink:NamedThing pituitary stalk interruption syndrome Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. tmpak2llvmy_mondo_relaxed.owl ectopic neurohypophysis|hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary|PSIS NCIT:C121150|SCTID:715727009|UMLS:C4053775|UMLS:CN206776|Orphanet:95496|GARD:0013209|ICD10:E23.6 https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome owl:Class MONDO:0019824 biolink:NamedThing non-acquired pituitary hormone deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:95488|ICD10:E23.0 Editor note: consider merging with familial hypopituitarism owl:Class HGNC:21022 biolink:NamedThing AARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:169952 biolink:NamedThing 13-cis-retinoate tmpak2llvmy_mondo_relaxed.owl (2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate|13-cis-retinoate owl:Class UBERON:0003083 biolink:NamedThing trunk neural crest Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. tmpak2llvmy_mondo_relaxed.owl trunk crest|TNC owl:Class MONDO:0007316 biolink:NamedThing Chiari malformation type I Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. tmpak2llvmy_mondo_relaxed.owl Chiari malformation type 1 with syringomyelia|Chiari malformation type 1|Arnold-Chiari malformation type 1|Cm1|Cm1 with syringomyelia|Chiari malformation type I|Arnold-Chiari malformation type I OMIM:118420|SCTID:253185002|MedDRA:10056944|Orphanet:268882|ICD10:G95.0 owl:Class MONDO:0000115 biolink:NamedThing Chiari malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. tmpak2llvmy_mondo_relaxed.owl Arnold-Chiari malformation|(Arnold) Chiari malformation|Chiari malformation NCIT:C84570|MESH:D001139|SCTID:253184003 Nomenclature of OMIM 118420 includes 207950 as another type. owl:Class MONDO:0000589 biolink:NamedThing autoimmune disease of musculoskeletal system A hypersensitivity reaction type II disease that involves the musculoskeletal system. tmpak2llvmy_mondo_relaxed.owl musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease DOID:0060032 owl:Class MONDO:0004473 biolink:NamedThing epiglottis cancer A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the Epiglottis|malignant neoplasm of anterior surface of epiglottis|malignant neoplasm of anterior aspect of epiglottis|cancer of epiglottis|epiglottic cancer|epiglottic throat cancer|epiglottis cancer|malignant epiglottic tumor|malignant Epiglottis neoplasm|malignant epiglottic neoplasm|malignant neoplasm of anterior epiglottis|malignant neoplasm of epiglottis|epiglottic carcinoma|malignant tumor of Epiglottis|malignant Epiglottis tumor|malignant epiglottis neoplasm|malignant neoplasm of Epiglottis|malignant neoplasm of the Epiglottis DOID:8133|ICD9:146.4|SCTID:187681002|NCIT:C35697|NCIT:C4836|ICD10:C10.1 owl:Class MONDO:0004109 biolink:NamedThing epiglottis neoplasm A benign or malignant neoplasm that affects the epiglottis. tmpak2llvmy_mondo_relaxed.owl epiglottis tumor|epiglottis neoplasm (disease)|neoplasm of the Epiglottis|epiglottic neoplasm|Epiglottis tumor|neoplasm of Epiglottis|tumor of the Epiglottis|epiglottic tumor|tumor of Epiglottis|tumor of epiglottis|neoplasm of epiglottis UMLS:C1290353|NCIT:C4933|DOID:7105|SCTID:126699008 MONDO:0021347 owl:Class UBERON:0007997 biolink:NamedThing sesamoid bone of manus A sesamoid bone that is part of a manus. tmpak2llvmy_mondo_relaxed.owl sesamoid bone of hand owl:Class UBERON:0011141 biolink:NamedThing appendicular ossicle Ossicle that is part of the appendicular skeleton. tmpak2llvmy_mondo_relaxed.owl ossicle of appendicular skeleton owl:Class MONDO:0005785 biolink:NamedThing henipavirus infectious disease Infections with viruses of the genus henipavirus, family paramyxoviridae. tmpak2llvmy_mondo_relaxed.owl Henipavirus disease or disorder|Henipavirus caused disease or disorder|Henipavirus infectious disease EFO:0007300|MESH:D045464 owl:Class MONDO:0005896 biolink:NamedThing Paramyxoviridae infectious disease Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. tmpak2llvmy_mondo_relaxed.owl Paramyxoviridae caused disease or disorder|Paramyxoviridae disease or disorder EFO:0007419|MESH:D018184 owl:Class HGNC:15899 biolink:NamedThing NDUFAF5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004202 biolink:NamedThing kidney outer medulla outer stripe The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules tmpak2llvmy_mondo_relaxed.owl outer stripe of medulla of kidney|outer stripe|stria externa medullae renalis|outer medulla outer stripe|outer stripe of renal medulla|outer stripe of outer medulla owl:Class GO:0050906 biolink:NamedThing detection of stimulus involved in sensory perception The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory perception, sensory transduction of stimulus|sensory perception, stimulus detection|sensory transduction|sensory detection of stimulus owl:Class GO:0051606 biolink:NamedThing detection of stimulus The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of stimulus|stimulus detection|stimulus sensing owl:Class HGNC:11164 biolink:NamedThing SNRPN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0026763 biolink:NamedThing holoprosencephaly 13, X-linked tmpak2llvmy_mondo_relaxed.owl HOLOPROSENCEPHALY 13, X-LINKED|HPE13 OMIM:301043 owl:Class HGNC:29597 biolink:NamedThing IRGM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016744 biolink:NamedThing primary melanocytic tumor of central nervous system tmpak2llvmy_mondo_relaxed.owl primary melanocytic lesion of CNS|primary melanocytic tumor of CNS|primary melanocytic lesion of central nervous system Orphanet:252028|UMLS:CN201991 owl:Class MONDO:0040922 biolink:NamedThing latent early syphilis tmpak2llvmy_mondo_relaxed.owl latent early syphilis UMLS:C0275842|SCTID:186867005 owl:Class MONDO:0005822 biolink:NamedThing latent syphilis A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. tmpak2llvmy_mondo_relaxed.owl MESH:D013592|NCIT:C35056|SCTID:444150000|DOID:9531|ICD9:097.1|ICD10:A53.0|UMLS:C0039133|EFO:0007340 owl:Class HP:0009714 biolink:NamedThing Abnormality of the epididymis An abnormality of the epididymis. tmpak2llvmy_mondo_relaxed.owl UMLS:C4024222 The epididymis is the structure that connects efferent ductules to vas deferens. peter 2009-01-30T11:44:43Z human_phenotype owl:Class HP:0000022 biolink:NamedThing Abnormality of male internal genitalia An abnormality of the male internal genitalia. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025899 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. human_phenotype owl:Class MONDO:0018996 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. tmpak2llvmy_mondo_relaxed.owl ataxia-ocular apraxia 2|ataxia with oculomotor apraxia type 2|spinocerebellar ataxia, autosomal recessive type 1|spinocerebellar ataxia, autosomal recessive 1|ataxia-oculomotor apraxia type 2|SCAN 2|ataxia-oculomotor apraxia 2|autosomal recessive spinocerebellar ataxia-1|AOA2|SCAR1|spinocerebellar ataxia with axonal neuropathy type 2|SCAN2 UMLS:C1853761|MESH:C537308|Orphanet:64753|ICD10:G60.2|DOID:0050755|GARD:0012860|UMLS:CN205441|SCTID:725408001|OMIM:606002 See https://github.com/Orphanet/ORDO/issues/11 owl:Class MONDO:0018277 biolink:NamedThing congenital muscular dystrophy with cerebellar involvement tmpak2llvmy_mondo_relaxed.owl CMD-CRB|CMD with cerebellar involvement ICD10:G71.2|Orphanet:370959 owl:Class MONDO:0012165 biolink:NamedThing BNAR syndrome BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. tmpak2llvmy_mondo_relaxed.owl bifid nose with or without anorectal and renal anomalies|bifid NOSE with or without anorectal and renal anomalies|BNAR UMLS:C2750433|UMLS:C4303547|OMIM:608980|MESH:C567672|GARD:0010595|Orphanet:217266|ICD10:Q87.8|SCTID:717940006 owl:Class MONDO:0000110 biolink:NamedThing bifid nose Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. tmpak2llvmy_mondo_relaxed.owl UMLS:CN227089|Orphanet:2695|GARD:0000884|MESH:C535441|ICD10:Q30.2 owl:Class GO:0001820 biolink:NamedThing serotonin secretion The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. tmpak2llvmy_mondo_relaxed.owl 5-HT secretion|5-hydroxytryptamine secretion|serotonin release owl:Class UBERON:0002299 biolink:NamedThing alveolus of lung Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]. tmpak2llvmy_mondo_relaxed.owl alveolus pulmonis|alveoli|alveolus|pulmonary alveolus|lung alveolus|respiratory alveolus|respiratory alveoli owl:Class MONDO:0005915 biolink:NamedThing pityriasis versicolor A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. tmpak2llvmy_mondo_relaxed.owl Malassezia furfur infection|tinea versicolor|tinea flava|infection by Pityrosporum furfur|infections, Malassezia furfur UMLS:C0040262|NCIT:C82981|ICD9:111.0|DOID:9060|MESH:D014010|EFO:0007439|ICD10:B36.0|SCTID:56454009 owl:Class UBERON:0003479 biolink:NamedThing thoracic cavity vein A vein that is part of a thoracic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cavity of chest vein|vein of chest cavity|cavity of thorax vein|vein of cavity of chest|pectoral cavity vein|vein of thoracic cavity|vein of cavity of thorax|vein of pectoral cavity|chest cavity vein owl:Class UBERON:0003519 biolink:NamedThing thoracic cavity blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pectoral cavity blood vessel|blood vessel of pectoral cavity|cavity of chest blood vessel|blood vessel of thoracic cavity|blood vessel of cavity of thorax|blood vessel of cavity of chest|blood vessel of chest cavity|chest cavity blood vessel|cavity of thorax blood vessel owl:Class MONDO:0017852 biolink:NamedThing infantile spasms-broad thumbs syndrome A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. tmpak2llvmy_mondo_relaxed.owl Tsao Ellingson syndrome|Tsao-Ellingson syndrome|infantile spasms broad thumbs Orphanet:3173|GARD:0003002|UMLS:CN203849|ICD10:G40.4 https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs owl:Class MONDO:0007885 biolink:NamedThing Legg-Calve-Perthes disease A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. tmpak2llvmy_mondo_relaxed.owl Legg-Calve-Perthes syndrome|Perthe's disease|Legg-Calve-Perthes symptom|osteochondritis of the capital femoral epiphysis|Calve - Perthes' disease|coxa plana|juvenile osteochond-hip/pelvis|Legg-Calvé-Perthes disease|Legg-CALVE-Perthes disease|Osteochondrosis of the capital femoral epiphysis|pseudocoxalgia|Legg-Calve-Perthes disease|aseptic necrosis of the capital femoral epiphysis|osteochondritis deformans|Pseudocoxalgia|osteochondrosis of Legg-Calve-Perthes|Legg-Perthes disease|juvenile osteochondrosis of hip and/or pelvis|LCPD|juvenile osteochondrosis of hip and pelvis|Perthes disease|Lcp NCIT:C34766|MESH:D007873|ICD10:M91.1|SCTID:15739006|DOID:14415|ICD10:M91.2|UMLS:C0023234|EFO:0007341|MedDRA:10034735|ICD10:M91.3|GARD:0006874|OMIM:150600|Orphanet:2380 https://github.com/monarch-initiative/mondo/issues/521|https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease owl:Class MONDO:0018381 biolink:NamedThing osteochondrosis A condition that is characterized by defective bone growth that affects the growth centers of bone. tmpak2llvmy_mondo_relaxed.owl epiphysitis|osteochondritis juvenilis|apophysitis|epiphyseal necrosis|osteochondritis|osteochondrosis not specified as adult or juvenile, of unspecified site SCTID:19579005|EFO:0008575|ICD10:M92|UMLS:C0029429|Orphanet:399319|GARD:0012704|MESH:D055034|ICD9:732.6|DOID:8125|ICD10:M42|NCIT:C34879|ICD10:M93.9 https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis owl:Class MONDO:0005728 biolink:NamedThing diaphragm disease A disease involving the diaphragm. tmpak2llvmy_mondo_relaxed.owl diaphragmatic disorder|disease of diaphragm|diaphragmatic disease|disease or disorder of diaphragm|diaphragm disease|disorder of diaphragm|diaphragm disease or disorder UMLS:C0152097|SCTID:48475001|DOID:10481|ICD10:J98.6|ICD9:519.4|EFO:0007233 owl:Class MONDO:0022986 biolink:NamedThing diffuse idiopathic pulmonary neuroendocrine cell hyperplasia A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor. tmpak2llvmy_mondo_relaxed.owl DIP-NECH|DIPNECH|diffuse idiopathic pulmonary neuroendocrine cell hyperplasia GARD:0010780|NCIT:C7437|UMLS:C1333291 https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia owl:Class GO:0051668 biolink:NamedThing localization within membrane Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. tmpak2llvmy_mondo_relaxed.owl establishment and maintenance of localization in membrane|localisation within membrane|establishment and maintenance of position in membrane|localization to membrane|positioning within membrane owl:Class GO:0051641 biolink:NamedThing cellular localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. tmpak2llvmy_mondo_relaxed.owl localization within cell|establishment and maintenance of localization in cell or cell membrane|cellular localisation|intracellular localization|establishment and maintenance of cellular localization|single organism cellular localization|single-organism cellular localization owl:Class UBERON:0004949 biolink:NamedThing submucosa of main bronchus A submucosa that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of principal bronchus|main bronchial submucosa|submucosa of primary bronchus|principal bronchus submucosa|primary bronchus submucosa|submucosa of bronchus principalis|bronchus principalis submucosa|main bronchus submucosa owl:Class MONDO:0016204 biolink:NamedThing idiopathic copper-associated cirrhosis Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. tmpak2llvmy_mondo_relaxed.owl non-Wilsonian hepatic copper toxicosis of infancy and childhood ICD10:K74.6|Orphanet:209919|SCTID:715864007 owl:Class HGNC:6694 biolink:NamedThing LRP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015557 biolink:NamedThing Smouldering systemic mastocytosis Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions. tmpak2llvmy_mondo_relaxed.owl Orphanet:158775|ICD10:C96.2 owl:Class MONDO:0020331 biolink:NamedThing indolent systemic mastocytosis Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues. tmpak2llvmy_mondo_relaxed.owl indolent systemic mastocytosis (morphologic abnormality)|ism Orphanet:98848|UMLS:C0272203|ICD10:D47.0|DOID:4660|ICDO:9741/1|NCIT:C9286|MedDRA:10056452|ONCOTREE:ISM|SCTID:70910003 owl:Class ENVO:01001138 biolink:NamedThing carbon dioxide ice Ice which is primarily composed of carbon dioxide. tmpak2llvmy_mondo_relaxed.owl dry ice owl:Class ENVO:01001125 biolink:NamedThing ice An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019193 biolink:NamedThing acquired generalized lipodystrophy Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). tmpak2llvmy_mondo_relaxed.owl Lawrence-Seip syndrome|acquired generalized lipodystrophy|acquired lipoatrophic diabetes|Lawrence syndrome DOID:0080300|GARD:0012603|ICD10:E88.1|UMLS:C0271693|SCTID:86907008|Orphanet:79086|NCIT:C131089 https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy owl:Class MONDO:0020089 biolink:NamedThing acquired lipodystrophy An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired lipodystrophy (disease) UMLS:C0877192|ICD10:E88.1|Orphanet:98307|MedDRA:10049287 owl:Class MONDO:0009634 biolink:NamedThing microtia with meatal atresia and conductive deafness tmpak2llvmy_mondo_relaxed.owl familial microtia with meatal atresia and conductive deafness|microtia with meatal atresia and conductive deafness|microtia, meatal atresia and conductive deafness|Gupta Patton syndrome|familial microtia and meatal atresia|microtia meatal atresia deafness dominant GARD:0000357|UMLS:C2931502|OMIM:251800|MESH:C537469|GARD:0003657 owl:Class UBERON:0036302 biolink:NamedThing vasculature of central nervous system plus retina tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009519 biolink:NamedThing letterer-Siwe disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. tmpak2llvmy_mondo_relaxed.owl multifocal multisystem Langerhans cell histiocytosis|histiocytosis X, acute disseminated|acute and disseminated Langerhans cell histiocytosis|L-S disease|acute disseminated Langerhans cell histiocytosis|letterer-Siwe disease NCIT:C3160|OMIM:246400|MedDRA:10024265|UMLS:C0023381|Orphanet:99870|ICDO:9754/3|ICD10:C96.0 owl:Class HP:0007754 biolink:NamedThing Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. tmpak2llvmy_mondo_relaxed.owl UMLS:C0730292 HP:0007919|HP:0007638|HP:0007999|HP:0007914|HP:0007798 human_phenotype owl:Class HP:0000556 biolink:NamedThing Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. tmpak2llvmy_mondo_relaxed.owl Breakdown of light-sensitive cells in back of eye SNOMEDCT_US:314407005|MSH:D058499|UMLS:C0854723 HP:0007982|HP:0007910|HP:0007974|HP:0007736 human_phenotype owl:Class MONDO:0008926 biolink:NamedThing COFS syndrome Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. tmpak2llvmy_mondo_relaxed.owl cerebrooculofacioskeletal syndrome|Pena-Shokeir syndrome type 2|cerebro-oculo-facio-skeletal syndrome|COFS UMLS:C0220722|NCIT:C3817|OMIMPS:214150|ICD10:Q87.1|GARD:0006027|Orphanet:1466 owl:Class HGNC:11831 biolink:NamedThing TK2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002102 biolink:NamedThing CD38-negative naive B cell A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl CD38- naive B lymphocyte|CD38- naive B cell|CD38-negative naive B-cell|CD38- naive B-lymphocyte|CD38- naive B-cell|CD38-negative naive B lymphocyte|CD38-negative naive B-lymphocyte cell owl:Class MONDO:0008089 biolink:NamedThing neutropenia, chronic familial tmpak2llvmy_mondo_relaxed.owl chronic familial neutropenia|leukopenia benign familial|leukopenia, benign familial|neutropenia, chronic familial|neutropenia chronic familial ICD9:288.09|GARD:0003983|OMIM:162700|MESH:C535815|SCTID:234576008|UMLS:C3665676 https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial owl:Class MONDO:0008500 biolink:NamedThing striae distensae, familial tmpak2llvmy_mondo_relaxed.owl striae distensae, familial MESH:C566104|OMIM:185200|UMLS:C1861447 owl:Class MONDO:0020216 biolink:NamedThing secondary dysgenetic glaucoma A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. tmpak2llvmy_mondo_relaxed.owl secondary congenital glaucoma Orphanet:98631 owl:Class MONDO:0019416 biolink:NamedThing X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206172|ICD10:Q87.8|Orphanet:85317 owl:Class NCBITaxon:649188 biolink:NamedThing Lujo mammarenavirus tmpak2llvmy_mondo_relaxed.owl Lujo virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1653394 biolink:NamedThing Mammarenavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005453 biolink:NamedThing congenital heart disease A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. tmpak2llvmy_mondo_relaxed.owl abnormalities, heart|heart malformation|heart defect|congenital heart defects|defects, congenital heart|congenital anomaly of heart|Abnormality, heart|heart, malformation Of|heart abnormalities|heart abnormality|defect, congenital heart|congenital heart defect|heart-congenital defect|heart defect, congenital ICD10:Q24.9|DOID:1682|ICD9:746.84|ICD9:746.9|NCIT:C95834|ICD9:746.89|UMLS:CN169364|SCTID:13213009|EFO:0005207|MESH:D006330 owl:Class NCBITaxon:169495 biolink:NamedThing This tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:169455 biolink:NamedThing Coelopellini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015146 biolink:NamedThing classic lissencephaly tmpak2llvmy_mondo_relaxed.owl ILS|lissencephaly classic|lissencephaly type 1|lissencephaly sequence isolated Orphanet:102009|GARD:0005049|ICD10:Q04.3 owl:Class MONDO:0018838 biolink:NamedThing lissencephaly spectrum disorders The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. tmpak2llvmy_mondo_relaxed.owl lissencephaly (disease)|pachygyria|lissencephaly spectrum disorders|lissencephaly|Broad gyri of cerebrum|macrogyria|large gyri of cerebrum DOID:0050453|GARD:0012291|UMLS:C0266463|MESH:D054082|GARD:0007300|ICD10:Q04.3|OMIMPS:607432|MedDRA:10048911|HP:0001339|NCIT:C103921|Orphanet:48471|SCTID:204036008|ICD10:Q04.8 Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. https://github.com/monarch-initiative/mondo/issues/1312 owl:Class MONDO:0000583 biolink:NamedThing immunoglobulin beta deficiency tmpak2llvmy_mondo_relaxed.owl IgB deficiency UMLS:C3502055|MESH:C567200|DOID:0060026 owl:Class GO:0048635 biolink:NamedThing negative regulation of muscle organ development Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. tmpak2llvmy_mondo_relaxed.owl downregulation of muscle development|down regulation of muscle development|inhibition of muscle development|down-regulation of muscle development owl:Class MONDO:0001930 biolink:NamedThing acute cholangitis Cholangitis that is both sudden in onset and of a relatively short duration. tmpak2llvmy_mondo_relaxed.owl cholangitis, acute|acute cholangitis UMLS:C0267917|SCTID:6215006|DOID:14271|NCIT:C35334 owl:Class MONDO:0100336 biolink:NamedThing infectious disease or post-infectious disorder A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself. tmpak2llvmy_mondo_relaxed.owl infectious disease or sequela https://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:63436 biolink:NamedThing carbohydrate acid derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. tmpak2llvmy_mondo_relaxed.owl carbohydrate acid derivatives owl:Class CHEBI:63299 biolink:NamedThing carbohydrate derivative Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. tmpak2llvmy_mondo_relaxed.owl carbohydrate derivatives|derivatized carbohydrates|derivatized carbohydrate|derivatised carbohydrates|derivatised carbohydrate owl:Class GO:0002456 biolink:NamedThing T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell. tmpak2llvmy_mondo_relaxed.owl cell-mediated immunity|cellular immune response|T-cell mediated immunity|T-lymphocyte mediated immunity|T lymphocyte mediated immunity owl:Class GO:0002460 biolink:NamedThing adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018839 biolink:NamedThing acquired schizencephaly An instance of schizencephaly that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired schizencephaly UMLS:CN776925|Orphanet:485275 owl:Class MONDO:0010011 biolink:NamedThing schizencephaly Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. tmpak2llvmy_mondo_relaxed.owl schizencephaly Orphanet:799|ICD10:Q04.6|ICD9:742.4|SCTID:253159001|GARD:0000166|NCIT:C99056|OMIM:269160 owl:Class MONDO:0054669 biolink:NamedThing pontocerebellar hypoplasia, type 11 tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 11|PCH11 OMIM:617695 owl:Class HGNC:11049 biolink:NamedThing SLC6A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020662 biolink:NamedThing borderline ovarian serous tumor A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. tmpak2llvmy_mondo_relaxed.owl serous ovarian neoplasm of low malignant potential|borderline serous neoplasm of ovary|borderline serous neoplasm of the ovary|serous neoplasm of the ovary with low malignant potential|proliferating serous neoplasm of ovary|borderline ovarian serous neoplasm|ovarian serous tumor of low malignant potential|serous neoplasm of ovary with low malignant potential|borderline serous tumor of the ovary|proliferating ovarian serous tumor|proliferating serous tumor of ovary|proliferating serous neoplasm of the ovary|proliferating serous tumor of the ovary|serous tumor of the ovary with low malignant potential|borderline ovarian serous tumor|ovarian serous neoplasm of low malignant potential|serous ovarian tumor of low malignant potential|borderline serous tumor of ovary|proliferating ovarian serous neoplasm|serous tumor of ovary with low malignant potential NCIT:C5226 owl:Class MONDO:0016093 biolink:NamedThing borderline epithelial tumor of ovary A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. tmpak2llvmy_mondo_relaxed.owl borderline ovarian surface epithelial-stromal tumor|ovarian tumors of low malignant potential|epithelial tumor of the ovary of borderline malignancy|ovarian low malignant potential tumor|epithelial neoplasm of the ovary of borderline malignancy|ovarian tum. of low malig. poten.|borderline ovarian epithelial neoplasm|epithelial tumor of ovary of borderline malignancy|low malignant potential ovarian tumor|borderline epithelial tumor of the ovary|epithelial ovarian neoplasm of borderline malignancy|borderline epithelial neoplasm of ovary|ovarian tumor of low malignant potential|ovarian borderline malignant tumor|epithelial neoplasm of ovary of borderline malignancy|borderline ovarian epithelial tumor|borderline epithelial tumor of ovary|borderline epithelial neoplasm of the ovary|epithelial ovarian tumor of borderline malignancy NCIT:C4783|UMLS:C3665489|EFO:1000140|Orphanet:206473|SCTID:764791008|ICD10:C56|GARD:0009363 owl:Class MONDO:0054731 biolink:NamedThing spermatogenic failure 27 tmpak2llvmy_mondo_relaxed.owl SPGF27|spermatogenic failure 27 OMIM:617965 owl:Class MONDO:0008282 biolink:NamedThing polyposis, intestinal, with multiple exostoses tmpak2llvmy_mondo_relaxed.owl polyposis, intestinal, with multiple exostoses MESH:C566776|OMIM:175450|UMLS:C1868005 owl:Class MONDO:0044315 biolink:NamedThing craniosynostosis 7 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). tmpak2llvmy_mondo_relaxed.owl craniosynostosis 7|craniosynostosis 7, digenic|Crs7, digenic|CRS7 UMLS:C4479496|OMIM:617439 owl:Class MONDO:0015469 biolink:NamedThing craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. tmpak2llvmy_mondo_relaxed.owl CSO|craniosynostosis syndrome|premature closure of cranial sutures MedDRA:10048907|OMIMPS:123100|MedDRA:10049889|MESH:D003398|UMLS:C0010278|ICD10:Q75.0|Orphanet:1531|GARD:0006209|DOID:2340|NCIT:C84655 owl:Class UBERON:0005136 biolink:NamedThing metanephric glomerular endothelium The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005135 biolink:NamedThing metanephric glomerular epithelium A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011831 biolink:NamedThing duct of vestibular gland A duct that is part of a vestibular gland. tmpak2llvmy_mondo_relaxed.owl vestibular gland duct owl:Class MONDO:0017614 biolink:NamedThing X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl Young-Hughes syndrome|Sex-linked intellectual disability, short stature, obesity and hypogonadism|Sex-linked mental retardation, short stature, obesity and hypogonadism|X-linked intellectual disability - short stature – obesity ICD10:Q87.8|Orphanet:3055|UMLS:C0796264|GARD:0000345|MESH:C536715 owl:Class MONDO:0000910 biolink:NamedThing retinitis pigmentosa 6 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2. tmpak2llvmy_mondo_relaxed.owl RP6|retinitis pigmentosa 6|retinitis pigmentosa type 6|retinitis pigmentosa, X-linked recessive, 6|RP 6 UMLS:C1839368|MESH:C564065|OMIM:312612|ICD10:H35.5|DOID:0110413|GARD:0010377 https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6 owl:Class MONDO:0004429 biolink:NamedThing skin meningioma A meningioma (disease) that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl primary meningioma of the skin|meningioma (disease) of zone of skin|zone of skin meningioma (disease) UMLS:C1335481|DOID:8006 owl:Class HGNC:20305 biolink:NamedThing SLC34A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002291 biolink:NamedThing cutaneous granular cell tumor A granular cell tumor that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl granular cell tumor of zone of skin|granular cell neoplasm of the skin|granular cell tumor of the skin|zone of skin granular cell tumor|skin granular cell tumor|granular cell neoplasm of skin|granular cell tumor of skin|granular cell skin tumor|skin granular cell neoplasm|cutaneous granular cell neoplasm|cutaneous granular cell tumor NCIT:C5617|UMLS:C0346060|SCTID:254763007|DOID:2410|ICD9:215.9 owl:Class MONDO:0006235 biolink:NamedThing granular cell tumor An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. tmpak2llvmy_mondo_relaxed.owl Abrikosoff's granulous cell tumor|malignant variant of Abrikosov's tumor|Abrikossoff's tumor|granular cell nerve sheath tumor|granular cell myoblastoma|granular cell neoplasm|granular cell tumor (morphologic abnormality)|Abrikosoff's tumor|giant granulocellular Abrikosov's tumor|Abrikossoff tumor|granular cell tumor|neoplasm of granular cell|granular cell tumor NOS (morphologic abnormality)|Abrikosov’s tumor|granular cell schwannoma|GCT|Abrikosov's tumor MESH:C535558|SCTID:404035005|DOID:2411|MESH:D016586|UMLS:C0085167|ONCOTREE:GCT|ICDO:9580/0|ICD9:215.9|GARD:0009618|NCIT:C3474|EFO:1000284 Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor owl:Class MONDO:0009091 biolink:NamedThing non-acquired combined pituitary hormone deficiency with spine abnormalities Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. tmpak2llvmy_mondo_relaxed.owl non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, type 3|pituitary hormone deficiency, combined, 3|Deafness, sensorineural with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|non-acquired combined pituitary hormone deficiency with spine abnormalities|CPHD3|Winkelmann-Bethge-Pfeiffer syndrome|pituitary hormone deficiency, combined, with rigid cervical spine|deafness, sensorineural, with pituitary dwarfism|Pituitary hormone deficiency, combined with rigid cervical spine Orphanet:231720|GARD:0010603|OMIM:221750|UMLS:C3489787|MESH:C536710 owl:Class MONDO:0009782 biolink:NamedThing ophthalmoplegia totalis with ptosis and miosis tmpak2llvmy_mondo_relaxed.owl ophthalmoplegia totalis with ptosis and miosis UMLS:C1850314|MESH:C564927|OMIM:258400 owl:Class GO:0030098 biolink:NamedThing lymphocyte differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpak2llvmy_mondo_relaxed.owl lymphocyte development|lymphocyte cell differentiation|lymphocytic blood cell differentiation owl:Class GO:0046649 biolink:NamedThing lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021441 biolink:NamedThing benign neoplasm of exocrine pancreas A benign neoplasm that involves the exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl benign tumor of the exocrine pancreas|benign exocrine pancreas tumor|benign tumor of exocrine pancreas|benign neoplasm of the exocrine pancreas|exocrine pancreas benign neoplasm|benign exocrine pancreatic neoplasm|benign exocrine pancreas neoplasm SCTID:271956003|NCIT:C4613|UMLS:C0347285 owl:Class UBERON:0005027 biolink:NamedThing mucosa of frontal sinus A mucosa that is part of a frontal sinus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl frontal sinus mucous membrane|mucous membrane of frontal sinus|organ mucosa of frontal sinus|frontal sinus mucosa of organ|frontal sinus mucosa|mucosa of organ of frontal sinus|frontal sinus organ mucosa owl:Class MONDO:0011479 biolink:NamedThing postural orthostatic tachycardia syndrome A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. tmpak2llvmy_mondo_relaxed.owl postural tachycardia syndrome due to NET deficiency|irritable heart|Soldiers heart|orhtostatic intolerance|orthostatic intolerance|neurocirculatory asthenia|soldiers heart|familial orthostatic tachycardia due to norepinephrine transporter deficiency|orthostatic intolerance due to NET deficiency EFO:1000645|OMIM:604715|Orphanet:443236|ICD10:I95.1|DOID:0111154|SCTID:8074002 owl:Class MONDO:0000992 biolink:NamedThing heart conduction disease A disease that has its basis in the disruption of the heart's electrical conduction system. tmpak2llvmy_mondo_relaxed.owl conduction disease of heart|heart rhythm disease|disorder of cardiac conduction|cardiac conduction disease|disease of cardiac conduction|cardiac conduction disorder DOID:10273|ICD9:426.6|SCTID:44808001 owl:Class MONDO:0011007 biolink:NamedThing diaphragmatic defect-limb deficiency-skull defect syndrome This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. tmpak2llvmy_mondo_relaxed.owl froster syndrome|diaphragmatic defects, limb deficiencies, and ossification defects of skull|diaphragmatic defect limb deficiency skull defect|froster-Huch syndrome ICD10:Q87.8|SCTID:721095007|Orphanet:2141|MESH:C563380|OMIM:601163|GARD:0002397 https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome owl:Class MONDO:0017395 biolink:NamedThing fixed pigmented erythema tmpak2llvmy_mondo_relaxed.owl fixed drug eruption Orphanet:293812|SCTID:73692007|MedDRA:10048796 owl:Class MONDO:0017396 biolink:NamedThing toxic dermatosis tmpak2llvmy_mondo_relaxed.owl Orphanet:293815 owl:Class UBERON:0005461 biolink:NamedThing levator scapulae muscle An axial muscle that originates in the cervical vertebraae inserts on the scapula. tmpak2llvmy_mondo_relaxed.owl levator scapulae muscle|musculus levator scapulae|levator scapulæ|levator scapula|levator scapulae owl:Class UBERON:0003897 biolink:NamedThing axial muscle One of the skeletal muscles of the head and neck, spine, and ribs. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045654 biolink:NamedThing positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. tmpak2llvmy_mondo_relaxed.owl upregulation of megakaryocyte differentiation|activation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|stimulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation owl:Class MONDO:0015483 biolink:NamedThing mandibulofacial dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl bilateral and symmetric oto-mandibular dysplasia ICD10:Q75.4|MedDRA:10051456|Orphanet:155899|MESH:D008342 owl:Class GO:1903998 biolink:NamedThing regulation of eating behavior Any process that modulates the frequency, rate or extent of eating behavior. tmpak2llvmy_mondo_relaxed.owl regulation of eating behaviour owl:Class GO:0060259 biolink:NamedThing regulation of feeding behavior Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. tmpak2llvmy_mondo_relaxed.owl regulation of feeding behaviour owl:Class MONDO:0011342 biolink:NamedThing SLC35A1-CDG SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. tmpak2llvmy_mondo_relaxed.owl CMP-sialic acid transporter deficiency|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|congenital disorder of glycosylation type IIf|congenital disorder of glycosylation, type IIf|CDG IIf|CDG syndrome type IIf|SLC35A1-CDG (CDG-IIf)|congenital disorder of glycosylation type 2f|CDG-IIf GARD:0012409|OMIM:603585|Orphanet:238459|UMLS:C1970344|DOID:0070258|MESH:C567040|ICD10:E77.8|SCTID:723624008 owl:Class MONDO:0009110 biolink:NamedThing dicarboxylic aminoaciduria Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Dicarboxylicaminoaciduria|dicarboxylic aminoaciduria|glutamate-aspartate transport defect|DCBXA|glutamate-aspartate Transport defect Orphanet:2195|ICD10:E72.0|DOID:0060650|OMIM:222730|MESH:C536171|UMLS:C1857253|SCTID:716747007|GARD:0001855 https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria owl:Class HGNC:6888 biolink:NamedThing MAPKAPK3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000457 biolink:NamedThing mesothelial cell of visceral peritoneum A mesothelial cell that is part of the visceral peritoneum. tmpak2llvmy_mondo_relaxed.owl FMA:72143 cell owl:Class MONDO:0015462 biolink:NamedThing thin ribs-tubular bones-dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl Sharma-Kapoor-Ramji syndrome Orphanet:1506|MESH:C537595|UMLS:C2931543|ICD10:Q87.5 owl:Class UBERON:0005687 biolink:NamedThing orbitosphenoid cartilage element A orbitosphenoid endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl sphenoid lesser wing cartilage element owl:Class UBERON:0015059 biolink:NamedThing orbitosphenoid endochondral element A orbitosphenoid bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl orbitosphenoid element|orbitosphenoid skeletal element owl:Class MONDO:0021468 biolink:NamedThing benign neoplasm of adrenal medulla A benign neoplasm that involves the adrenal medulla. tmpak2llvmy_mondo_relaxed.owl benign tumor of adrenal medulla|benign neoplasm of the adrenal medulla|benign tumor of the adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla tumor|benign adrenal medulla neoplasm SCTID:91968002|NCIT:C4895|UMLS:C0686512 owl:Class MONDO:0021511 biolink:NamedThing benign neoplasm of adrenal gland A benign neoplasm that involves the adrenal gland. tmpak2llvmy_mondo_relaxed.owl benign tumor of adrenal gland|benign adrenal tumor|benign adrenal gland neoplasm|benign tumor of the adrenal gland|benign adrenal gland tumor|adrenal gland benign neoplasm|benign neoplasm of the adrenal gland|benign adrenal neoplasm NCIT:C3629|UMLS:C0154040|ICD9:227.0|SCTID:91967007 owl:Class UBERON:0006568 biolink:NamedThing hypothalamic nucleus A nucleus of brain that is part of a hypothalamus. tmpak2llvmy_mondo_relaxed.owl nucleus of hypothalamus owl:Class MONDO:0003933 biolink:NamedThing chest wall bone cancer An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. tmpak2llvmy_mondo_relaxed.owl malignant bone tumor of the chest wall|malignant chest wall bone tumor|malignant bone tumor of chest wall|chest wall bone cancer|bone cancer of chest wall|malignant chest wall bone neoplasm|malignant bone neoplasm of chest wall|malignant bone neoplasm of the chest wall UMLS:C1334572|NCIT:C6724|DOID:6579 owl:Class MONDO:0004089 biolink:NamedThing basaloid carcinoma of the penis An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. tmpak2llvmy_mondo_relaxed.owl basaloid squamous cell carcinoma of the penis|squamous cell carcinoma of the penis, basaloid type|basaloid carcinoma of penis|penis basaloid carcinoma|basaloid squamous cell carcinoma of penis|basaloid penile squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid carcinoma of the penis|BPSCC|penis basaloid squamous cell carcinoma DOID:7047|ONCOTREE:BPSCC|NCIT:C6980|UMLS:C1332462 owl:Class MONDO:0014562 biolink:NamedThing neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome tmpak2llvmy_mondo_relaxed.owl COQ4-related neonatal encephalomyopathy|coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7|COQ10D7|primary coenzyme Q10 deficiency 7 DOID:0070244|UMLS:C4225392|Orphanet:457185|OMIM:616276 owl:Class MONDO:0016327 biolink:NamedThing mitochondrial disease with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201160|Orphanet:217587 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class NCBITaxon:5234 biolink:NamedThing Tremellales tmpak2llvmy_mondo_relaxed.owl jelly fungi PMID:17572334|GC_ID:1 NCBITaxon:106739|NCBITaxon:165809|NCBITaxon:34476 ncbi_taxonomy owl:Class PATO:0001796 biolink:NamedThing decreased coiling A coiling which is relatively low. tmpak2llvmy_mondo_relaxed.owl low coiling owl:Class ENVO:09000016 biolink:NamedThing concentration of nitrogen atom in environmental material The concentration of a nitrogen atom when measured in environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material nitrogen atom concentration owl:Class UBERON:0014950 biolink:NamedThing layer of developing cerebral cortex tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000972 biolink:NamedThing gallbladder lipoma A benign adipose tissue neoplasm involving the gallbladder wall. tmpak2llvmy_mondo_relaxed.owl gall bladder lipoma|lipoma of gall bladder|lipoma of the gallbladder|lipoma of gallbladder|gallbladder lipoma NCIT:C5835|DOID:10201|UMLS:C1333747 owl:Class MONDO:0042974 biolink:NamedThing parainfluenza virus type 3 infectious disease Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. tmpak2llvmy_mondo_relaxed.owl human respirovirus 3 disease or disorder|infection due to human parainfluenza virus 3|infection due to parainfluenza virus 3|human respirovirus 3 infectious disease|infection caused by human parainfluenza virus 3|infection caused by parainfluenza virus 3|PIV3|human parainfluenza virus type 3|human respirovirus 3 caused disease or disorder ICD9:079.89|UMLS:C0276324|GARD:0004215|OMOP:4147524|SCTID:30270006 owl:Class MONDO:0005940 biolink:NamedThing respirovirus infectious disease Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. tmpak2llvmy_mondo_relaxed.owl infections, Respirovirus UMLS:C3714630|EFO:0007465|MESH:D010253 owl:Class UBERON:0003518 biolink:NamedThing main bronchus blood vessel A blood vessel that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl principal bronchus vascular element|bronchus principalis blood vessel|principal bronchus blood vessel|blood vessel of main bronchus|primary bronchus vascular element|blood vessel of primary bronchus|blood vessel of bronchus principalis|blood vessel of principal bronchus|primary bronchus blood vessel owl:Class MONDO:0020475 biolink:NamedThing dermotrichic syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN207344|Orphanet:99688 Editor note: See PMID:1456297 owl:Class MONDO:0013259 biolink:NamedThing Oguchi disease-2 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. tmpak2llvmy_mondo_relaxed.owl Oguchi disease 2|Oguchi disease caused by mutation in GRK1|CSNBO2|GRK1 Oguchi disease|night blindness, congenital stationary, Oguchi type 2|Oguchi disease type 2|congenital stationary night blindness Oguchi type 2 DOID:0110713|UMLS:C3150678|OMIM:613411 owl:Class MONDO:0032741 biolink:NamedThing neurodevelopmental disorder with impaired speech and hyperkinetic movements tmpak2llvmy_mondo_relaxed.owl NEDISHM|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM:618425 owl:Class MONDO:0011701 biolink:NamedThing inflammatory bowel disease 4 An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 4|inflammatory bowel disease type 4|IBD4 DOID:0110903|MESH:C564680|OMIM:606675|UMLS:C1847691 owl:Class UBERON:0012485 biolink:NamedThing cloacal villus tmpak2llvmy_mondo_relaxed.owl cloacal villi owl:Class UBERON:0012423 biolink:NamedThing layer of microvilli A layer of microvilli, Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments[GO,modified] tmpak2llvmy_mondo_relaxed.owl microvillus|microvilli owl:Class UBERON:0034728 biolink:NamedThing autonomic nerve The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa. tmpak2llvmy_mondo_relaxed.owl nervus visceralis|visceral nerve owl:Class MONDO:0002898 biolink:NamedThing skin cancer A malignant neoplasm involving the zone of skin tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the skin|cancer of zone of skin|malignant neoplasm of skin|malignant skin neoplasm|malignant tumor of the skin|skin cancer, Including melanoma|cancer of skin|zone of skin cancer|malignant neoplasm of zone of skin|skin neoplasm, malignant|skin cancer|CA - skin cancer|malignant tumor of skin|malignant skin tumor|melanoma and non-melanoma skin cancer|malignant zone of skin neoplasm ICD9:173.8|GARD:0010421|UMLS:C0007114|DOID:4159|ICD9:173.9|SCTID:372130007|ICD10:C43.C44|NCIT:C2920 owl:Class MONDO:0009036 biolink:NamedThing cardiocranial syndrome, Pfeiffer type Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). tmpak2llvmy_mondo_relaxed.owl craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Pfeiffer-Singer-Zschiesche syndrome|Pfeiffer Cardiocranial syndrome|Cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|Pfeiffer-type cardiocranial syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Orphanet:2872|UMLS:C1857495|ICD10:Q87.8|SCTID:720606005|GARD:0008586|MESH:C535578|OMIM:218450 owl:Class MONDO:0037746 biolink:NamedThing malignant vaginal mixed epithelial and mesenchymal neoplasm A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant vaginal mixed epithelial and mesenchymal tumor|malignant vaginal mixed epithelial and mesenchymal neoplasm UMLS:C1512974|NCIT:C40276 owl:Class MONDO:0001402 biolink:NamedThing vaginal cancer A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas. tmpak2llvmy_mondo_relaxed.owl malignant vagina neoplasm|malignant vaginal neoplasm|malignant neoplasm of the vagina|cancer of vagina|vagina neoplasm|malignant neoplasm of vagina|vaginal tumor|malignant tumor of vagina|vagina cancer|malignant tumor of the vagina|malignant vaginal tumor|malignant vagina tumor NCIT:C7410|MESH:D014625|SCTID:363445000|GARD:0009348|ICD10:C52|ICD9:184.0|DOID:119 https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer owl:Class MONDO:0025135 biolink:NamedThing tuberculosis, avian A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells. tmpak2llvmy_mondo_relaxed.owl Avian tuberculosis|Tuberculoses, Avian|Avian Tuberculoses UMLS:C0041306|MESH:D014379|EFO:1001440 owl:Class CL:0002420 biolink:NamedThing immature T cell A T cell that has not completed T cell selection. tmpak2llvmy_mondo_relaxed.owl immature T-cell BTO:0001372|CALOHA:TS-1042 tmeehan 2010-10-12T01:56:17Z cell owl:Class CL:0000084 biolink:NamedThing T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpak2llvmy_mondo_relaxed.owl mature T cell|T lymphocyte|T-cell|T-lymphocyte|immature T cell VHOG:0001479|BTO:0000782|FMA:62870|CALOHA:TS-1001 CL:0000804|CL:0000812 cell owl:Class UBERON:0003588 biolink:NamedThing forelimb connective tissue A portion of connective tissue that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of fore limb|connective tissue of upper extremity|connective tissue of forelimb|connective tissue of superior member|connective tissue of anteriormost limb|wing connective tissue owl:Class CHEBI:32762 biolink:NamedThing L-tyrosinium An optically active form of tyrosinium having L-configuration. tmpak2llvmy_mondo_relaxed.owl (1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|L-tyrosinium|L-tyrosine cation owl:Class NCBITaxon:2701 biolink:NamedThing Gardnerella tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007512 biolink:NamedThing ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet OMIM:129540|MESH:C565067|UMLS:C1851851 owl:Class GO:2000273 biolink:NamedThing positive regulation of signaling receptor activity Any process that activates or increases the frequency, rate or extent of signaling receptor activity. tmpak2llvmy_mondo_relaxed.owl positive regulation of signalling receptor activity owl:Class GO:0044093 biolink:NamedThing positive regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009185 biolink:NamedThing ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleoside diphosphate metabolism owl:Class HGNC:13517 biolink:NamedThing CLIC5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012526 biolink:NamedThing hereditary angioedema type 3 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl estrogen-sensitive Hae|Hae 3|HAE-III|hereditary angioedema caused by mutation in F12|estrogen-related Hae|inherited estrogen-dependent angioedema|inherited estrogen-associated angioneurotic edema|hereditary angioneurotic edema type 3|hereditary angioedema with normal C1 inhibitor activity|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function|angioedema, hereditary, type 3|F12 hereditary angioedema|angioedema, hereditary, type III|HAE 3|Hae with normal C1 inhibitor concentration and function|HAE3|inherited estrogen-associated angioedema|inherited estrogen-dependent angioneurotic edema|hereditary angioedema type 3 OMIM:610618|MESH:D056828|ICD10:D84.1|ICD9:277.6|SCTID:427167008|Orphanet:100054 owl:Class MONDO:0019623 biolink:NamedThing hereditary angioedema Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpak2llvmy_mondo_relaxed.owl hereditary non histamine-induced angioedema|deficiency of C1 esterase inhibitor|HAE|hereditary angioneurotic edema|HANE|familial angioneurotic edema|hereditary angioedema|hereditary bradykinine-induced angioedema|angioedema, hereditary UMLS:CN239191|NCIT:C84758|MedDRA:10019860|GARD:0005979|ICD10:D84.1|UMLS:C0019243|Orphanet:91378|MESH:D054179|DOID:14735|OMIMPS:106100|SCTID:82966003 owl:Class MONDO:0021896 biolink:NamedThing anterior spinal artery stroke tmpak2llvmy_mondo_relaxed.owl MESH:C537776|GARD:0009653|UMLS:C2931608 https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke owl:Class MONDO:0020688 biolink:NamedThing spinal cord ischemia Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. tmpak2llvmy_mondo_relaxed.owl ischemic myelopathy|myelopathy, ischemic|cord Ischemias, spinal|experimental spinal cord ischemia|spinal cord ischemia, experimental|cord ischemia, spinal|myelopathies, ischemic|spinal cord Ischemias|ischemias, spinal cord|ischemia, spinal cord|ischemic myelopathies MESH:D020760 owl:Class UBERON:0003429 biolink:NamedThing abdomen nerve A nerve that is part of an abdomen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of abdomen owl:Class MONDO:0014369 biolink:NamedThing postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. tmpak2llvmy_mondo_relaxed.owl Culler-Jones syndrome|Pallister-Hall syndrome 2|Pallister-Hall syndrome 2, formerly|CJS OMIM:615849|DOID:0080328|Orphanet:420584|GARD:0013349|ICD10:Q87.8|UMLS:C4014479 owl:Class UBERON:0009778 biolink:NamedThing pleural sac A serous sac that has the pleura and the pleural cavity as parts. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008508 biolink:NamedThing symphalangism, C. S. Lewis type tmpak2llvmy_mondo_relaxed.owl symphalangism, C. S. Lewis type|thumbs, stiff OMIM:185650|MESH:C566100|UMLS:C1861404 owl:Class MONDO:0000151 biolink:NamedThing symphalangism tmpak2llvmy_mondo_relaxed.owl SCTID:253975004 owl:Class MONDO:0009018 biolink:NamedThing central cloudy dystrophy of François Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. tmpak2llvmy_mondo_relaxed.owl central cloudy dystrophy of François|CCDF|corneal dystrophy, central type|central cloudy dystrophy of Francois|central cloudy corneal dystrophy of François MESH:C563262|OMIM:217600|UMLS:C1622427|ICD10:H18.5|SCTID:419074008|Orphanet:98972 owl:Class MONDO:0020214 biolink:NamedThing posterior corneal dystrophy Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. tmpak2llvmy_mondo_relaxed.owl Orphanet:98627|UMLS:CN227822|ICD10:H18.5|ICD9:371.58|SCTID:35091000119101|UMLS:C2063478 owl:Class GO:1905789 biolink:NamedThing positive regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that activates or increases the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpak2llvmy_mondo_relaxed.owl upregulation of perception of touch, sensory detection of mechanical stimulus|up regulation of sensory transduction of mechanical stimulus during perception of touch|activation of perception of touch, sensory detection of mechanical stimulus|up regulation of perception of touch, sensory detection of mechanical stimulus|up regulation of detection of mechanical stimulus involved in sensory perception of touch|activation of tactition, sensory detection of mechanical stimulus|up regulation of perception of touch, sensory transduction of mechanical stimulus|upregulation of sensory transduction of mechanical stimulus during perception of touch|positive regulation of tactition, sensory detection of mechanical stimulus|up-regulation of sensory detection of mechanical stimulus during perception of touch|up-regulation of perception of touch, detection of mechanical stimulus|up regulation of perception of touch, detection of mechanical stimulus|up regulation of tactition, sensory detection of mechanical stimulus|activation of detection of mechanical stimulus involved in sensory perception of touch|upregulation of tactition, sensory detection of mechanical stimulus|positive regulation of perception of touch, sensory transduction of mechanical stimulus|up-regulation of perception of touch, sensory transduction of mechanical stimulus|activation of perception of touch, detection of mechanical stimulus|up regulation of sensory detection of mechanical stimulus during perception of touch|up-regulation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of detection of mechanical stimulus involved in sensory perception of touch|upregulation of sensory detection of mechanical stimulus during perception of touch|up-regulation of tactition, sensory detection of mechanical stimulus|upregulation of detection of mechanical stimulus involved in sensory perception of touch|positive regulation of perception of touch, detection of mechanical stimulus|positive regulation of perception of touch, sensory detection of mechanical stimulus|positive regulation of sensory transduction of mechanical stimulus during perception of touch|positive regulation of sensory detection of mechanical stimulus during perception of touch|upregulation of perception of touch, detection of mechanical stimulus|up-regulation of perception of touch, sensory detection of mechanical stimulus|activation of perception of touch, sensory transduction of mechanical stimulus|upregulation of perception of touch, sensory transduction of mechanical stimulus|activation of sensory detection of mechanical stimulus during perception of touch|activation of sensory transduction of mechanical stimulus during perception of touch owl:Class GO:1905787 biolink:NamedThing regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that modulates the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpak2llvmy_mondo_relaxed.owl regulation of perception of touch, detection of mechanical stimulus|regulation of perception of touch, sensory transduction of mechanical stimulus|regulation of sensory detection of mechanical stimulus during perception of touch|regulation of tactition, sensory detection of mechanical stimulus|regulation of sensory transduction of mechanical stimulus during perception of touch|regulation of perception of touch, sensory detection of mechanical stimulus owl:Class NCBITaxon:5039 biolink:NamedThing Blastomyces dermatitidis tmpak2llvmy_mondo_relaxed.owl Ajellomyces dermatitidis|Blastomycoides dermatitidis GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:229219 biolink:NamedThing Blastomyces tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000694 biolink:NamedThing seasonal affective disorder A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. tmpak2llvmy_mondo_relaxed.owl winter depression|SADS|sad|seasonal affective disorder MESH:D016574|SCTID:247803002|DOID:0060167|ICD9:296.99 owl:Class MONDO:0015596 biolink:NamedThing non-herpetic acute limbic encephalitis Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. tmpak2llvmy_mondo_relaxed.owl Orphanet:163924|ICD10:G04.8|SCTID:764998005 owl:Class CL:0000206 biolink:NamedThing chemoreceptor cell A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0003382 biolink:NamedThing cardiac muscle of left ventricle A portion of cardiac muscle tissue that is part of a left ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left ventricle cardiac muscle|cardiac muscle tissue of left ventricle|left ventricular cardiac muscle tissue owl:Class UBERON:0018649 biolink:NamedThing cardiac muscle tissue of ventricle tmpak2llvmy_mondo_relaxed.owl ventricular muscle|ventricular cardiac muscle tissue|ventricular heart muscle owl:Class MONDO:0016493 biolink:NamedThing variant of Guillain-Barre syndrome tmpak2llvmy_mondo_relaxed.owl variant of GBS|variant of Guillain-Barré syndrome Orphanet:231413|ICD10:G61.0|UMLS:CN201495 owl:Class UBERON:0013525 biolink:NamedThing stomach lumen The anatomical space that is enclosed by a stomach. tmpak2llvmy_mondo_relaxed.owl cavity of stomach|gastric cavity owl:Class MONDO:0005323 biolink:NamedThing bacterial sexually transmitted disease Bacterial diseases that are potentially transmitted or propagated by sexual conduct. tmpak2llvmy_mondo_relaxed.owl EFO:0003955|MESH:D015231|UMLS:C0036917 owl:Class GO:0070507 biolink:NamedThing regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpak2llvmy_mondo_relaxed.owl regulation of microtubule cytoskeleton organisation|regulation of microtubule dynamics owl:Class GO:0051493 biolink:NamedThing regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpak2llvmy_mondo_relaxed.owl regulation of cytoskeleton organization and biogenesis|regulation of cytoskeleton organisation owl:Class MONDO:0000182 biolink:NamedThing congenital myasthenic syndrome with tubular aggregates A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, with tubular aggregates|CMS-TA OMIMPS:610542|UMLS:CN228621 owl:Class MONDO:0018940 biolink:NamedThing congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital|congenital MG|congenital myasthenia|myasthenia gravis congenital|myasthenia gravis pseudoparalytica|familial limb-girdle myasthenia|erb-Goldflam syndrome|CMS DOID:3635|ICD10:G70.2|UMLS:C0751882|NCIT:C84647|GARD:0000098|MESH:D020294|SCTID:230672006|GARD:0011902|Orphanet:590|ICD9:358.00|OMIMPS:601462|ICD9:V17.89 https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome owl:Class MONDO:0000459 biolink:NamedThing mesenchymal glioblastoma A molecular subtype of glioblastoma characterized by the presence of NF1 mutations. tmpak2llvmy_mondo_relaxed.owl mesenchymal glioblastoma|glioblastoma mesenchymal subtype DOID:0050805|UMLS:C3829122|NCIT:C111695 owl:Class MONDO:0100163 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in children A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms. tmpak2llvmy_mondo_relaxed.owl paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|COVID-19 -related pediatric inflammatory multisystem syndrome|pediatric inflammatory multisystem syndrome|multisystem inflammatory syndrome in children|PIMS-TS|SARS-CoV-2 Kawasaki-like syndrome|pediatric multisystem inflammatory syndrome|MIS-C|pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|PIMS|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|COVID-19 associated multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children associated with COVID-19|PMIS|COVID-19 Kawasaki-like syndrome DOID:0080711|NCIT:C172127 The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0035375 biolink:NamedThing multisystem inflammatory syndrome in children and adults tmpak2llvmy_mondo_relaxed.owl MIS-C/A ICD10:U10.9|Orphanet:598363 owl:Class NCBITaxon:46683 biolink:NamedThing Ascaridiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:46682 biolink:NamedThing Heterakoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004605 biolink:NamedThing chronic ulcer of skin tmpak2llvmy_mondo_relaxed.owl indolent ulcer|callous ulcer|indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality) ICD9:707.9|UMLS:C0157738|SCTID:19429009|EFO:0007066|DOID:8549|ICD9:707.8|ICD10:L98.4|ICD9:707 owl:Class UBERON:0003119 biolink:NamedThing pharyngeal arch artery 2 The vessels formed within the second pair of branchial arches in embryogenesis tmpak2llvmy_mondo_relaxed.owl second aortic arch|hyoid aortic arch|2nd aortic arch artery|second branchial arch artery|2nd pharyngeal arch artery|2nd branchial arch artery|aortic arch 2|AA2|2nd arch artery owl:Class UBERON:0004363 biolink:NamedThing pharyngeal arch artery One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP] tmpak2llvmy_mondo_relaxed.owl branchial aortic arches|aortic arch artery|PAA|pharyngeal arch artery|a. arcuum pharyngeorum|arteriae arcuum pharyngeorum|aortic arch|aortic arches|branchial arch artery|embryonic aortic arch artery|pharyngeal arch arteries owl:Class GO:1905941 biolink:NamedThing positive regulation of gonad development Any process that activates or increases the frequency, rate or extent of gonad development. tmpak2llvmy_mondo_relaxed.owl upregulation of gonad development|upregulation of gonadogenesis|activation of gonad development|up regulation of gonadogenesis|up regulation of gonad development|positive regulation of gonadogenesis|up-regulation of gonadogenesis|up-regulation of gonad development|activation of gonadogenesis owl:Class HP:0012444 biolink:NamedThing Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. tmpak2llvmy_mondo_relaxed.owl Brain wasting|Brain degeneration SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946|SNOMEDCT_US:278849000|SNOMEDCT_US:418143002 peter 2013-11-23T02:46:15Z human_phenotype owl:Class HGNC:359 biolink:NamedThing AIPL1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009636 biolink:NamedThing response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpak2llvmy_mondo_relaxed.owl toxin resistance|toxin susceptibility/resistance|detoxification response owl:Class GO:0042221 biolink:NamedThing response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpak2llvmy_mondo_relaxed.owl response to chemical substance|response to chemical stimulus owl:Class MONDO:0015150 biolink:NamedThing complex hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with hereditary spastic paraplegia|complicated HSP|Complex familial spastic paraplegia|Complex SPG|complicated hereditary spastic paraplegia|syndromic hereditary spastic paraplegia|Complex HSP|complicated familial spastic paraplegia|complicated SPG UMLS:CN197491|UMLS:C0393556|ICD10:G11.4|SCTID:230261006|Orphanet:102013 owl:Class MONDO:0011489 biolink:NamedThing hereditary spastic paraplegia 12 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 12|SPG12|autosomal dominant spastic paraplegia 12|RTN2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in RTN2|hereditary spastic paraplegia type 12|autosomal dominant spastic paraplegia type 12|spastic paraplegia 12, autosomal dominant UMLS:C1858106|Orphanet:100993|OMIM:604805|ICD10:G11.4|SCTID:763374004|MESH:C537484|GARD:0009586|DOID:0110765 owl:Class MONDO:0003980 biolink:NamedThing schwannoma of jugular foramen A rare intracranial schwannoma that affects the jugular foramen. tmpak2llvmy_mondo_relaxed.owl neurilemmoma of jugular Foramen|schwannoma of the jugular Foramen|neurilemmoma of the jugular Foramen|jugular Foramen neurilemmoma|jugular foramen schwannoma DOID:6735|NCIT:C5323|UMLS:C1334300 owl:Class GO:0040012 biolink:NamedThing regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011933 biolink:NamedThing ALG2-CDG A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl CDG-II|carbohydrate deficient glycoprotein syndrome type II|CDG II|carbohydrate-deficient glycoprotein syndrome type 1I|mannosyltransferase 2 deficiency|CDG 1I|congenital disorder of glycosylation type 1i|congenital disorder of glycosylation, type II|ALG2-CDG (CDG-II)|CDG syndrome type II|congenital disorder of glycosylation type II|CDG1I Orphanet:79326|ICD10:E77.8|OMIM:607906|GARD:0009836|DOID:0080561 owl:Class MONDO:0004335 biolink:NamedThing digestive system disease A disease or disorder that involves the digestive system. tmpak2llvmy_mondo_relaxed.owl digestive system disorder|gastroenteropathy|alimentary system disease|digestive disease|gastrointestinal system disorder|disorder of digestive system|gastrointestinal system disease|digestive system disease or disorder|gastrointestinal disorder|gastroenterological system disorder|gastroenterological system disease|git disease|digestive system disease|disease of digestive system|stomach or intestinal disorder|disease or disorder of digestive system|gastrointestinal disease MESH:D005767|NCIT:C2990|EFO:0000405|SCTID:53619000|DOID:77|ICD10:K92.9|ICD9:520-579.99|ICD9:V47.3 owl:Class MONDO:0017857 biolink:NamedThing spina bifida-hypospadias syndrome Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. tmpak2llvmy_mondo_relaxed.owl UMLS:CN203872|Orphanet:3176|ICD10:Q05.9 owl:Class MONDO:0001633 biolink:NamedThing central retinal artery occlusion Blockage of the central retinal artery. tmpak2llvmy_mondo_relaxed.owl central retinal arterial occlusion NCIT:C34456|UMLS:C0007688|DOID:13098|SCTID:38742007|ICD9:362.31|ICD10:H34.1 owl:Class MONDO:0020673 biolink:NamedThing arterial occlusion Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. tmpak2llvmy_mondo_relaxed.owl arterial occlusion|arterial obstruction NCIT:C35318 owl:Class MONDO:0018944 biolink:NamedThing gestational trophoblastic neoplasm A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. tmpak2llvmy_mondo_relaxed.owl gestational trophoblastic disease|GTN|GTT|hydatidiform mole|gestational trophoblastic tumor|molar pregnancy|gestational trophoblastic neoplasia ICD9:630|ICD10:O01.9|Orphanet:59305|SCTID:609519004|DOID:3590|MedDRA:10061988|NCIT:C4699|GARD:0006498|ICD10:O01|ICD10:O01.0|UMLS:C1135868 owl:Class MONDO:0016784 biolink:NamedThing gestational trophoblastic disease tmpak2llvmy_mondo_relaxed.owl SCTID:416402001|ICD9:631|Orphanet:254685|ONCOTREE:GTD Grouping for hydatidiform mole and gestational trophoblastic neoplasm owl:Class MONDO:0018431 biolink:NamedThing cold-induced sweating syndrome - hyperthermia spectrum tmpak2llvmy_mondo_relaxed.owl ICD10:G90.8|UMLS:CN226150|Orphanet:401993 Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms owl:Class MONDO:0016961 biolink:NamedThing partial duplication of the long arm of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial trisomy of the long arm of chromosome 10|partial trisomy of chromosome 10q|partial duplication of chromosome 10q Orphanet:262914 MONDO:0042978 owl:Class CL:0019031 biolink:NamedThing intestine goblet cell Goblet cells reside throughout the length of the small and large intestine and are responsible for the production and maintenance of the protective mucus blanket by synthesizing and secreting high-molecular-weight glycoproteins known as mucins. Human intestinal goblet cells secrete the MUC2 mucin, as well as a number of typical mucus components: CLCA1, FCGBP, AGR2, ZG16, and TFF3. tmpak2llvmy_mondo_relaxed.owl intestinal goblet cell 2020-10-14 14:59:07+00:00 owl:Class MONDO:0020726 biolink:NamedThing tubulointerstitial kidney disease, autosomal dominant, 2 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. tmpak2llvmy_mondo_relaxed.owl medullary cystic kidney disease 1|Mckd|MUCI-related ADTKD|polycystic kidneys, medullary type|ADTKD-MUC1|medullary cystic kidney disease, autosomal dominant|MCKD1|MUC1-related autosomal dominant medullary cystic kidney disease|autosomal dominant medullary cystic kidney disease without hyperuricemia|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|MUC1-related autosomal dominant tubulointerstitial kidney disease|medullary cystic kidney disease type 1|ADMCKD1 ICD10:Q61.5|NCIT:C123171|Orphanet:88949|OMIM:174000|GARD:0007002|UMLS:CN206321|UMLS:C1868139 https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations owl:Class HGNC:5012 biolink:NamedThing HMMR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042776 biolink:NamedThing mitochondrial ATP synthesis coupled proton transport The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpak2llvmy_mondo_relaxed.owl mitochondrial proton transport owl:Class GO:0046907 biolink:NamedThing intracellular transport The directed movement of substances within a cell. tmpak2llvmy_mondo_relaxed.owl single-organism intracellular transport|single organism intracellular transport owl:Class MONDO:0005807 biolink:NamedThing idiopathic CD4-positive T-lymphocytopenia A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. tmpak2llvmy_mondo_relaxed.owl NCIT:C84780|DOID:3109|MESH:D018344|EFO:0007322|UMLS:C0206744 owl:Class MONDO:0003780 biolink:NamedThing T-cell immunodeficiency A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpak2llvmy_mondo_relaxed.owl T lymphocyte deficiency|T-cell immunodeficiency|T-lymphocyte deficiency (finding)|T-lymphocyte immunodeficiency SCTID:402792003|DOID:613|NCIT:C27145|UMLS:C1274233 owl:Class GO:0015929 biolink:NamedThing hexosaminidase activity Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004553 biolink:NamedThing hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of any O-glycosyl bond. tmpak2llvmy_mondo_relaxed.owl O-glucosyl hydrolase activity owl:Class NCBITaxon:2601529 biolink:NamedThing Tetramitia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5752 biolink:NamedThing Heterolobosea tmpak2llvmy_mondo_relaxed.owl Lobosa GC_ID:1 ncbi_taxonomy owl:Class HGNC:3087 biolink:NamedThing DVL3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5414 biolink:NamedThing IFITM3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012450 biolink:NamedThing spinocerebellar ataxia type 28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. tmpak2llvmy_mondo_relaxed.owl SCA28|spinocerebellar ataxia 28|spinocerebellar ataxia type 28 OMIM:610246|UMLS:C4274988|DOID:0050977|ICD10:G11.1|MESH:C537205|GARD:0009951|Orphanet:101109|UMLS:C1853249|SCTID:715824008 owl:Class GO:0042483 biolink:NamedThing negative regulation of odontogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. tmpak2llvmy_mondo_relaxed.owl negative regulation of tooth development|down regulation of odontogenesis|down-regulation of odontogenesis|downregulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|inhibition of odontogenesis owl:Class GO:0110111 biolink:NamedThing negative regulation of animal organ morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004267 biolink:NamedThing back connective tissue A portion of connective tissue that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyne of back owl:Class GO:0006449 biolink:NamedThing regulation of translational termination Any process that modulates the frequency, rate or extent of translational termination. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005961 biolink:NamedThing sinusitis An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. tmpak2llvmy_mondo_relaxed.owl ICD10:J01|ICD10:J01.9|ICD9:461|ICD9:461.9|DOID:0050127|NCIT:C35024|UMLS:C0037199|MESH:D012852|EFO:0007486|ICD10:J01.90|SCTID:36971009 owl:Class MONDO:0008429 biolink:NamedThing singleton-Merten dysplasia Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). tmpak2llvmy_mondo_relaxed.owl Merten-singleton syndrome|widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|SM syndrome|SGMRT1|singleton-Merten syndrome|singleton Merten syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition GARD:0000122|ICD10:Q78.8|UMLS:C0432254|OMIMPS:182250|Orphanet:85191|ICD9:733.29|SCTID:254114000|MESH:C537343 owl:Class MONDO:0015135 biolink:NamedThing primary immunodeficiency due to a genetic defect in innate immunity tmpak2llvmy_mondo_relaxed.owl primary immunodeficiency due to a defect in innate immunity Orphanet:101988 owl:Class MONDO:0011038 biolink:NamedThing cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|CAPOS|cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Orphanet:1171|GARD:0001188|OMIM:601338|MESH:C535351|SCTID:720634003 owl:Class MONDO:0019142 biolink:NamedThing inherited porphyria Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. tmpak2llvmy_mondo_relaxed.owl hereditary porphyria|porphyria|disorder of porphyrin metabolism|Hematoporphyria|disorder of porphyrin and hem metabolism|disorder of porphyrin and heme metabolism|Porphyrinopathy DOID:13268|ICD9:277.1|MESH:D011164|Orphanet:738|GARD:0010353|UMLS:C0032708|MedDRA:10036181|NCIT:C97096|SCTID:371628009|ICD10:E80.0|ICD10:E80.20|ICD10:E80.1|MedDRA:10061356|ICD10:E80.2 Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic https://rarediseases.info.nih.gov/diseases/10353/porphyria owl:Class UBERON:0014705 biolink:NamedThing median lingual swelling epithelium A epithelium that is part of a median lingual swelling. tmpak2llvmy_mondo_relaxed.owl tuberculum impar epitheilium owl:Class MONDO:0010531 biolink:NamedThing contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. tmpak2llvmy_mondo_relaxed.owl congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay|Ladda Zonana Ramer syndrome|contractures ectodermal dysplasia cleft lip palate|Ladda-Zonana-Ramer syndrome ICD10:Q87.8|Orphanet:1484|GARD:0001515|SCTID:720746006|OMIM:301815 owl:Class MONDO:0003512 biolink:NamedThing mediastinal mesenchymal tumor A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpak2llvmy_mondo_relaxed.owl soft tissue tumor of the mediastinum|mediastinal soft tissue tumor|soft tissue tumor of mediastinum|mediastinal soft tissue neoplasm|soft tissue neoplasm of mediastinum|soft tissue neoplasm of the mediastinum DOID:5560|NCIT:C6637|UMLS:C1334669 owl:Class UBERON:0035483 biolink:NamedThing left suprarenal vein A vein that drains blood from the left adrenal gland into the left renal artery. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007325 biolink:NamedThing choreoathetosis, familial inverted tmpak2llvmy_mondo_relaxed.owl infantile choreoathetosis of Fisher|choreoathetosis, familial inverted MESH:C566127|OMIM:118750|UMLS:C1861569 owl:Class MONDO:0001595 biolink:NamedThing choreatic disease A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. tmpak2llvmy_mondo_relaxed.owl chorea, benign hereditary|hereditary benign chorea|BHC|hereditary chorea|benign familial chorea|hereditary progressive chorea without dementia|Bch SCTID:230298007|ICD9:333.5|Orphanet:1429|NCIT:C84633|HP:0002072|SCTID:230306001|DOID:12859|EFO:0004152|ICD10:G25.5|MESH:D002819 owl:Class MONDO:0016008 biolink:NamedThing fetal hydantoin syndrome Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. tmpak2llvmy_mondo_relaxed.owl phenytoin embryopathy|fetal dihydantoin syndrome|Dilantin embryopathy|phenytoin embryofetopathy ICD10:Q86.1|UMLS:C0265372|NCIT:C98927|MESH:C537922|GARD:0006435|ICD9:759.89|MedDRA:10016508|Orphanet:1912|SCTID:70065001 https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome owl:Class MONDO:0018262 biolink:NamedThing fetal anticonvulsant syndrome tmpak2llvmy_mondo_relaxed.owl fetal antiepileptic drug syndrome|fetal AEDS|FACS Orphanet:370068|UMLS:C1739111|ICD10:Q86.8 owl:Class MONDO:0006087 biolink:NamedThing appendix adenocarcinoma A carcinoma that arises from glandular epithelial cells of the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl vermiform appendix adenocarcinoma|adenocarcinoma of appendix|appendix adenocarcinoma|appendiceal adenocarcinoma|APAD|adenocarcinoma of the appendix DOID:3608|NCIT:C7718|EFO:1000088|SCTID:413445002|GARD:0010564|ONCOTREE:APAD|UMLS:C0238003 owl:Class MONDO:0014382 biolink:NamedThing tall stature-intellectual disability-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl TATTON-BROWN-Rahman syndrome|tall stature-intellectual disability-facial dysmorphism syndrome|DNMT3A-related overgrowth syndrome|TBRS|Tatton-Brown-Rahman overgrowth syndrome UMLS:C4014545|SCTID:768843007|OMIM:615879|Orphanet:404443|ICD10:Q87.3 owl:Class GO:0006572 biolink:NamedThing tyrosine catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl tyrosine catabolism|tyrosine breakdown|tyrosine degradation owl:Class MONDO:0011456 biolink:NamedThing nephronophthisis 3 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis type 3|NPH3|nephronophthisis 3|Nph3|NPHP3 nephronophthisis (disease)|NPHP3|nephronophthisis (disease) caused by mutation in NPHP3 UMLS:C1858392|OMIM:604387|DOID:0111114|MESH:C565780 owl:Class MONDO:0019005 biolink:NamedThing nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. tmpak2llvmy_mondo_relaxed.owl medullary cystic kidney|medullary cystic disease|nephronophthisis|nephronophthisis (disease) nephronophthisis (disease) UMLS:C2939174|NCIT:C123200|DOID:12712|HP:0000090|OMIMPS:256100|UMLS:C0687120|Orphanet:655|ICD10:Q61.5|GARD:0000206 owl:Class MONDO:0015182 biolink:NamedThing congenital enteropathy involving intestinal mucosa development tmpak2llvmy_mondo_relaxed.owl Orphanet:104007 owl:Class MONDO:0019928 biolink:NamedThing 48,XXXY syndrome The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. tmpak2llvmy_mondo_relaxed.owl 48, XXXY syndrome|XXXY syndrome Orphanet:96263|UMLS:C0265498|NCIT:C89799|ICD9:758.81|GARD:0005676|MedDRA:10048228|SCTID:78317008|ICD10:Q98.1 https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome owl:Class MONDO:0030502 biolink:NamedThing tetrasomy A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. tmpak2llvmy_mondo_relaxed.owl tetrasomy MESH:D058670|NCIT:C36601|EFO:1001297 owl:Class MONDO:0002528 biolink:NamedThing synovium neoplasm A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath. tmpak2llvmy_mondo_relaxed.owl neoplasm of synovial membrane of synovial joint|synovial neoplasm|synovial membrane of synovial joint neoplasm (disease)|neoplasm of the synovium|synovial neoplasm (morphologic abnormality)|tumor of the synovium|tumor of synovial membrane of synovial joint|synovial membrane of synovial joint neoplasm|synovial neoplasm NOS (morphologic abnormality)|tumor of synovium|synovial membrane of synovial joint tumor|neoplasm of synovium|synovial tumor NCIT:C8964|DOID:315|UMLS:C0476203 owl:Class MONDO:0006424 biolink:NamedThing soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. tmpak2llvmy_mondo_relaxed.owl neoplasm of the soft tissue|SOFTTISSUE|neoplasm of soft tissue|soft tissue neoplasm|tumor of soft tissue|soft tissue tumor|soft tissue tumors|tumor of the soft tissue ONCOTREE:SOFTTISSUE|NCIT:C3377|EFO:1000541|SCTID:387837005 owl:Class MONDO:0019263 biolink:NamedThing autosomal erythropoietic protoporphyria Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. tmpak2llvmy_mondo_relaxed.owl EPP Orphanet:79278|MedDRA:10015289|ICD10:E80.0 owl:Class MONDO:0001676 biolink:NamedThing erythropoietic protoporphyria A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. tmpak2llvmy_mondo_relaxed.owl EPP (erythropoietic protoporphyria porphyria)|protoporphyria MESH:D046351|DOID:13270|SCTID:51022005|ICD10:E80.0|OMIMPS:177000 owl:Class MONDO:0010177 biolink:NamedThing vascular hyalinosis A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. tmpak2llvmy_mondo_relaxed.owl retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome|digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|vascular hyalinosis|Rambaud-Gallian-Touchard syndrome|Rambaud-Gallian syndrome Orphanet:3018|ICD10:E78.8|MESH:C564750|GARD:0004635|OMIM:277175 https://github.com/monarch-initiative/mondo/issues/3607 owl:Class GO:0006900 biolink:NamedThing vesicle budding from membrane The evagination of a membrane, resulting in formation of a vesicle. tmpak2llvmy_mondo_relaxed.owl vesicle budding|vesicle formation|single-organism membrane budding|membrane evagination|nonselective vesicle assembly|single organism membrane budding|vesicle biosynthesis owl:Class GO:0061024 biolink:NamedThing membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpak2llvmy_mondo_relaxed.owl cellular membrane organisation|membrane organisation|membrane organization and biogenesis|single-organism membrane organization|cellular membrane organization owl:Class HGNC:13201 biolink:NamedThing ADAMTS10 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26291 biolink:NamedThing BBS10 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003332 biolink:NamedThing negative regulation of extracellular matrix constituent secretion Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003330 biolink:NamedThing regulation of extracellular matrix constituent secretion Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002245 biolink:NamedThing blood platelet disease Disorders caused by abnormalities in platelet count or function. tmpak2llvmy_mondo_relaxed.owl thrombocytopathy|platelet abnormality|platelet disorder MESH:D001791|SCTID:22716005|NCIT:C131634 owl:Class HGNC:28486 biolink:NamedThing MFSD8 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050966 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory transduction of mechanical stimulus during perception of pain|perception of pain, sensory detection of mechanical stimulus|perception of pain, sensory transduction of mechanical stimulus|perception of pain, detection of mechanical stimulus|mechanical nociception|sensory detection of mechanical stimulus during perception of pain owl:Class GO:0050974 biolink:NamedThing detection of mechanical stimulus involved in sensory perception The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception. tmpak2llvmy_mondo_relaxed.owl sensory perception, sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus during sensory perception|sensory transduction of mechanical stimulus|sensory perception, sensory detection of mechanical stimulus|sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during sensory perception owl:Class MONDO:0004161 biolink:NamedThing uterine corpus apoplectic leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. tmpak2llvmy_mondo_relaxed.owl uterine corpus hemorrhagic cellular leiomyoma|uterine corpus leiomyoma with apoplectic change DOID:7241|NCIT:C40165|UMLS:C1519852 owl:Class UBERON:0004234 biolink:NamedThing iris smooth muscle A portion of smooth muscle tissue that is part of a iris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl iris non-striated muscle|iridial smooth muscle|smooth muscle tissue of iris|involuntary muscle of iris|smooth muscle of iris|iris involuntary muscle|non-striated muscle of iris|iris smooth muscle tissue owl:Class GO:0001819 biolink:NamedThing positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine. tmpak2llvmy_mondo_relaxed.owl stimulation of cytokine production|positive regulation of cytokine secretion|positive regulation of cytokine biosynthetic process|up-regulation of cytokine production|activation of cytokine production|upregulation of cytokine production|up regulation of cytokine production owl:Class HP:0008062 biolink:NamedThing Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. tmpak2llvmy_mondo_relaxed.owl UMLS:C4024739 peter 2008-04-02T03:33:00Z human_phenotype owl:Class HP:0008056 biolink:NamedThing Aplasia/Hypoplasia affecting the eye tmpak2llvmy_mondo_relaxed.owl Absent/underdeveloped eye|Absent/small eye UMLS:C4024745 peter 2008-04-02T03:25:00Z human_phenotype owl:Class MONDO:0014162 biolink:NamedThing infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. tmpak2llvmy_mondo_relaxed.owl COXPD16|combined oxidative phosphorylation deficiency 16|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 16|combined oxidative phosphorylation defect type 16 OMIM:615395|UMLS:C3809339|Orphanet:352563|DOID:0111469|ICD10:I42.2|GARD:0012892 owl:Class MONDO:0001657 biolink:NamedThing brain cancer A primary or metastatic malignant neoplasm affecting the brain. tmpak2llvmy_mondo_relaxed.owl primary brain tumor|BT - brain tumour|malignant brain tumor|adult malignant brain neoplasm|malignant tumor of brain|tumor of the brain|primary brain neoplasm|brain neoplasms, malignant|primary malignant neoplasm of brain|malignant primary brain neoplasm|malignant brain tumour|malignant brain neoplasm|malignant tumor of adult brain|malignant neoplasm of the brain|cancer of the brain|brain neoplasm|brain tumor, adult|cancer of brain|malignant primary brain tumor|malignant neoplasm of brain|malignant tumor of the brain|brain cancer|neoplasm of unspecified nature of brain|brain neoplasm, adult|adult brain tumor CSP:2006-2736|ICD9:191.9|NCIT:C3568|MESH:D001932|ICD9:191.8|DOID:1319|ICD10:C71|ICD9:239.6|ICD10:C71.9|SCTID:428061005|ICD9:191|GARD:0009307 owl:Class MONDO:0020944 biolink:NamedThing fungal infection of eye Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. tmpak2llvmy_mondo_relaxed.owl Fungal Ocular Infection|Eye Infections, Fungal|Fungal eye infection|OCULAR INFECT FUNGAL|Oculomycoses|Infections, Fungal Eye|Ocular Infections, Fungal|Ocular Infection, Fungal|MYCOTIC INFECT OCULAR|Infection, Fungal Ocular|Mycotic Infections, Ocular|fungal eye infection|Mycotic Infection, Ocular|Ocular Mycoses|Fungal Eye Infections|Infections, Ocular Mycotic|FUNGAL EYE INFECT|Infection, Fungal Eye|Ocular Mycotic Infection|Ocular mycosis|fungal infection of eye|Ocular Mycosis|Infections, Fungal Ocular|EYE INFECT FUNGAL|Fungal infection of eye|Ocular Mycotic Infections|Mycosis, Ocular|Fungal Eye Infection|ocular mycosis|Infection, Ocular Mycotic|Oculomycosis|Mycoses, Ocular|Eye Infection, Fungal|Fungal Ocular Infections UMLS:C0015405|MESH:D015821|SCTID:31194008|ICD9:117.9 owl:Class MONDO:0043885 biolink:NamedThing eye infectious disease An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. tmpak2llvmy_mondo_relaxed.owl infection, eye|eye infection|infections, ocular|ocular infection|infections, eye|ocular infections|infection, ocular MESH:D015817|SCTID:128351009|UMLS:C0015403|NCIT:C45372 owl:Class MONDO:0008130 biolink:NamedThing ophthalmoplegia-intellectual disability-lingua scrotalis syndrome tmpak2llvmy_mondo_relaxed.owl Levic-Stefanovic-Nikolic syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic Stefanovic Nikolic syndrome|ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MESH:C563498|GARD:0003236|Orphanet:2743|OMIM:165150|UMLS:C1833835 https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome owl:Class UBERON:0001747 biolink:NamedThing parenchyma of thyroid gland A parenchyma that is part of a thyroid follicle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl thyroid gland parenchyma|parenchyma of thyroid|thyroid gland follicle parenchyma|thyroid follicle parenchyma|parenchyma glandulae thyroideae|parenchyma of thyroid follicle|parenchyma of thyroid gland follicle|thyroid parenchyma owl:Class UBERON:0015014 biolink:NamedThing calcaneum endochondral element A calcaneum bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl calcaneum skeletal element|calcaneum element owl:Class UBERON:0015050 biolink:NamedThing tarsus endochondral element A tarsus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl tarsus skeletal element|tarsus element owl:Class MONDO:0005959 biolink:NamedThing sick building syndrome A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) tmpak2llvmy_mondo_relaxed.owl UMLS:C0037050|SCTID:19076009|DOID:2710|MESH:D018877|EFO:0007484 owl:Class MONDO:0004553 biolink:NamedThing extrinsic allergic alveolitis An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis. tmpak2llvmy_mondo_relaxed.owl alveolitis|hypersensitivity pneumonitis|allergic form of pneumonitis|allergic pneumonitis|extrinsic allergic alveolitis ICD10:J67.9|NCIT:C34369|ICD9:495|ICD9:495.9|MESH:D000542|DOID:841 owl:Class MONDO:0010705 biolink:NamedThing ouabain resistance tmpak2llvmy_mondo_relaxed.owl ouabain resistance|OUBR OMIM:311350 owl:Class MONDO:0014671 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6B Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene. tmpak2llvmy_mondo_relaxed.owl HMSN 6B|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46|Charcot-Marie-Tooth disease, type 6B|HMSN6B|neuropathy, hereditary motor and sensory, type VIB|SLC25A46 hereditary motor and sensory neuropathy type 6|CMT6B|neuropathy, hereditary motor and sensory, type 6B OMIM:616505|UMLS:C4225302|EFO:0009075 owl:Class CL:0000025 biolink:NamedThing egg cell A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization. tmpak2llvmy_mondo_relaxed.owl ovum|mature oocyte MA:0000388|BTO:0003801|FBbt:00057012|CALOHA:TS-2191|BTO:0000369|FMA:67343 cell owl:Class CL:0000675 biolink:NamedThing female gamete A mature sexual reproductive cell of the female germline. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0008064 biolink:NamedThing nasal bones, absence of tmpak2llvmy_mondo_relaxed.owl nasal bones, absence of MESH:C562753|OMIM:161480|UMLS:C4082198 owl:Class MONDO:0041095 biolink:NamedThing malignant otitis externa caused by Pseudomonas aeruginosa An malignant otitis externa caused by infection with Pseudomonas aeruginosa. tmpak2llvmy_mondo_relaxed.owl Pseudomonas aeruginosa malignant otitis externa|Pseudomonas aeruginosa caused malignant otitis externa|malignant otitis externa due to Pseudomonas aeruginosa|malignant otitis externa caused by Pseudomonas aeruginosa UMLS:C0395818|SCTID:232230009 owl:Class MONDO:0040732 biolink:NamedThing Pseudomonas aeruginosa infectious disease tmpak2llvmy_mondo_relaxed.owl infection due to Pseudomonas aeruginosa|infection caused by Pseudomonas aeruginosa SCTID:11218009|UMLS:C0276075 owl:Class CL:0002082 biolink:NamedThing type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. tmpak2llvmy_mondo_relaxed.owl epiniphrine secreting cell of the adrenal medulla|adremergic chromaffin cell|adrenal secreting cell of the adrenal medulla FMA:69322 tmeehan 2010-07-14T09:41:42Z cell owl:Class UBERON:0011278 biolink:NamedThing nail of pedal digit 1 A nail that is part of a pedal digit 1. tmpak2llvmy_mondo_relaxed.owl nail plate of big toe|nail of pedal digit I|nail of first toe|claw of digit 1 of hind-paw|nail of big toe|nail of great toe|big toe nail owl:Class UBERON:0001705 biolink:NamedThing nail A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. tmpak2llvmy_mondo_relaxed.owl nail/claw|talon|claw owl:Class HGNC:15807 biolink:NamedThing ZNF335 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000537 biolink:NamedThing exposure to toxin An exposure to toxin. tmpak2llvmy_mondo_relaxed.owl exposure to toxin owl:Class GO:0046136 biolink:NamedThing positive regulation of vitamin metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl upregulation of vitamin metabolic process|positive regulation of vitamin metabolism|up regulation of vitamin metabolic process|up-regulation of vitamin metabolic process|activation of vitamin metabolic process|stimulation of vitamin metabolic process owl:Class UBERON:0004984 biolink:NamedThing mucosa of seminal vesicle A mucosa that is part of a seminal vesicle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl seminal vesicle mucosa of organ|seminal gland mucosa|mucous membrane of seminal gland|seminal gland mucosa of organ|mucosa of organ of seminal vesicle|mucosa of organ of seminal gland|seminal gland mucous membrane|mucous membrane of seminal vesicle|seminal vesicle mucosa|mucosa of seminal gland|seminal vesicle mucous membrane|seminal vesicle organ mucosa|organ mucosa of seminal gland|seminal gland organ mucosa|tunica mucosa glandulae vesiculosae|organ mucosa of seminal vesicle owl:Class UBERON:0012466 biolink:NamedThing extraembryonic cavity tmpak2llvmy_mondo_relaxed.owl extraembryonic cavities owl:Class HGNC:11771 biolink:NamedThing TGFBI tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010411 biolink:NamedThing retroperitoneal fat pad encapsulated adipose tissue found on the dorsal side of the peritoneum tmpak2llvmy_mondo_relaxed.owl retroperitoneal fat depot owl:Class UBERON:0001777 biolink:NamedThing substantia propria of cornea the lamellated connective tissue of the cornea between the Bowman and Descemet membranes tmpak2llvmy_mondo_relaxed.owl corneal stroma|substantia propria|substantia propria corneae|stroma of cornea owl:Class CL:0002292 biolink:NamedThing type I cell of carotid body A round or oval neuroepithelial cell that contacts other type I cells or capillaries. They occur in clusters that are surrounded by sheath cells (type-II cells) in the carotid body. This cell type is capable of secreting a number of neurotransmitters. tmpak2llvmy_mondo_relaxed.owl glomus cell FMA:84186 tmeehan 2010-09-13T01:40:21Z cell owl:Class MONDO:0010316 biolink:NamedThing FG syndrome 3 tmpak2llvmy_mondo_relaxed.owl FG syndrome 3|FGS3 OMIM:300406|UMLS:C1845567|GARD:0009924 https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3 owl:Class MONDO:0002010 biolink:NamedThing FG syndrome FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. tmpak2llvmy_mondo_relaxed.owl Opitz-Kaveggia syndrome|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome|FGS|FGS1|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum GARD:0002317|SCTID:49984004|Orphanet:323|DOID:14711|OMIMPS:305400|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome owl:Class MONDO:0002143 biolink:NamedThing vaginal yolk sac tumor A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge. tmpak2llvmy_mondo_relaxed.owl vaginal yolk Sac neoplasm|yolk sac tumor|vaginal endodermal sinus tumor|vaginal yolk Sac tumor|vaginal endodermal sinus neoplasm NCIT:C6379|DOID:1910|UMLS:C1336945|ONCOTREE:VYST owl:Class MONDO:0016094 biolink:NamedThing vaginal germ cell malignant tumor A malignant germ cell tumor that involves the vagina. tmpak2llvmy_mondo_relaxed.owl malignant germ cell tumor of the vagina|vaginal germ cell cancer|vagina malignant germ cell tumor Orphanet:206489|UMLS:CN200860|ICD10:C52 owl:Class PATO:0015008 biolink:NamedThing distensibility A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005463 biolink:NamedThing aortic valve calcification Calcification of the aortic valve tmpak2llvmy_mondo_relaxed.owl aortic valve calcification (disease)|aortic valve calcification aortic valve calcification (disease) EFO:0005239|SCTID:250978003|UMLS:C0428791|HP:0004380 owl:Class MONDO:0003803 biolink:NamedThing aortic valve disease A disease involving the aortic valve. tmpak2llvmy_mondo_relaxed.owl disease of aortic valve|aortic valve disease|disease or disorder of aortic valve|aortic valve disorder|disorder of aortic valve|aortic valve disease or disorder UMLS:C1260873|NCIT:C78650|ICD9:424.1|DOID:62|ICD9:395 owl:Class MONDO:0013400 biolink:NamedThing Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. tmpak2llvmy_mondo_relaxed.owl adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|cholesterol side-chain Cleavage deficiency|p450scc deficiency|XY sex reversal-adrenal failure|XY sex reversal-adrenal failure syndrome|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MESH:C566130|Orphanet:168558|OMIM:613743|ICD10:Q56.1|NCIT:C131422|DOID:0050546|UMLS:C3151055 owl:Class MONDO:0015129 biolink:NamedThing chronic primary adrenal insufficiency A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. tmpak2llvmy_mondo_relaxed.owl Primary Hypoadrenalism|Addison disease|primary adrenal insufficiency, chronic|chronic adrenocorticoid insufficiency|CPAI|Addison's disease Orphanet:101959|NCIT:C26689 owl:Class MONDO:0000679 biolink:NamedThing social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. tmpak2llvmy_mondo_relaxed.owl expressive agnosia DOID:0060149 owl:Class MONDO:0008876 biolink:NamedThing Bloom syndrome Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. tmpak2llvmy_mondo_relaxed.owl Bloom syndrome|BLS|Bloom-Torre-Machacek syndrome|congenital telangiectatic erythema syndrome|BS|BSyn|MGRISCE1|BLM|microcephaly, growth restriction, and increased sister chromatid exchange 1|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|congenital telangiectatic erythema ICD10:Q82.2|MESH:D001816|SCTID:4434006|UMLS:C0005859|NCIT:C2903|Orphanet:125|GARD:0000915|DOID:2717|OMIM:210900|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome owl:Class MONDO:0001976 biolink:NamedThing chorea gravidarum A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) tmpak2llvmy_mondo_relaxed.owl UMLS:C0264746|MESH:D020150|ICD9:646.80|EFO:1001290|DOID:14483|SCTID:25113000 owl:Class MONDO:0032774 biolink:NamedThing cerebellar, ocular, craniofacial, and genital syndrome tmpak2llvmy_mondo_relaxed.owl CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME|COFG OMIM:618479 owl:Class NCBITaxon:526525 biolink:NamedThing Erysipelotrichales tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:526524 biolink:NamedThing Erysipelotrichia tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:23606477 ncbi_taxonomy owl:Class MONDO:0054868 biolink:NamedThing meconium ileus Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. tmpak2llvmy_mondo_relaxed.owl meconium ileus NCIT:C98979|SCTID:206523001 owl:Class MONDO:0004567 biolink:NamedThing ileus Decrease in peristalsis in the absence of a mechanical bowel obstruction. tmpak2llvmy_mondo_relaxed.owl ileus of intestine SCTID:710572000|UMLS:C1258215|NCIT:C37979|MESH:D045823|DOID:8440 owl:Class MONDO:0008160 biolink:NamedThing osteosclerosis with ichthyosis and fractures tmpak2llvmy_mondo_relaxed.owl cortical thickening of long bones with bowing and ichthyosis|osteosclerosis with ichthyosis and fractures MESH:C563483|OMIM:166740|UMLS:C1833697 owl:Class GO:0045819 biolink:NamedThing positive regulation of glycogen catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpak2llvmy_mondo_relaxed.owl positive regulation of glycogen degradation|activation of glycogen catabolic process|up regulation of glycogen catabolic process|upregulation of glycogen catabolic process|positive regulation of glycogen catabolism|positive regulation of glycogen breakdown|positive regulation of glycogenolysis|stimulation of glycogen catabolic process|up-regulation of glycogen catabolic process owl:Class MONDO:0032894 biolink:NamedThing neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy tmpak2llvmy_mondo_relaxed.owl NEDESBA|NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY OMIM:618741 owl:Class MONDO:0060589 biolink:NamedThing facial palsy, congenital, with ptosis and velopharyngeal dysfunction tmpak2llvmy_mondo_relaxed.owl FPVEPD|facial palsy, congenital, with ptosis and velopharyngeal dysfunction UMLS:C4540277|OMIM:617732 owl:Class MONDO:0005342 biolink:NamedThing IgA glomerulonephritis Inflammation of a specific segment of glomeruli within the kidney. tmpak2llvmy_mondo_relaxed.owl berger's disease|focal glomerulonephritis|segmental glomerulonephritis|berger's IgA or IgG nephropathy|IgA nephropathy|primary IgA nephropathy|IgA glomerulonephritis NCIT:C34643|MESH:D005922|EFO:0004194|ICD9:583.9|OMIMPS:161950|UMLS:C0017661|SCTID:68779003|DOID:2986 owl:Class UBERON:0004761 biolink:NamedThing cartilaginous neurocranium The primitive cartilagionous skeletal structure of the fetal skull that grows to envelop the rapidly growing embyonic brain. In humans, the chondrocranium begins forming at 28 days from mesenchymal condensations and is fully formed between week 7 and 9 of fetal development. While the majority of the chondrocranium is succeeded by the bony skull in most higher vertebrates, some components do persist into adulthood.[1] In Cartilagious fishes and Agnathans, the chondrocranium persist throughout life.[2] Embryologically, the chondrocranium represent the basal cranial structure, and lay the base for the formation of the endocranium in higher vertebrates[WP]. tmpak2llvmy_mondo_relaxed.owl neurocranium|cartilaginous chondocranium|cartiligionous skeletal structure of skull|embryonic chondocranium|chondocranium|cartilaginous skull owl:Class GO:0006629 biolink:NamedThing lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. tmpak2llvmy_mondo_relaxed.owl lipid metabolism owl:Class GO:0033044 biolink:NamedThing regulation of chromosome organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. tmpak2llvmy_mondo_relaxed.owl regulation of chromosome organisation|regulation of chromosome organization and biogenesis owl:Class MONDO:0021101 biolink:NamedThing appendix L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpak2llvmy_mondo_relaxed.owl malignant appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|appendix L-cell NET|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell glucagon-like peptide-producing NET|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|malignant appendiceal glucagonoma UMLS:C3274138|NCIT:C27445|DOID:8151 owl:Class MONDO:0015066 biolink:NamedThing neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. tmpak2llvmy_mondo_relaxed.owl appendix well differentiated endocrine tumor/carcinoma|appendix neuroendocrine tumor|well-differentiated neuroendocrine tumor of the appendix|appendiceal neuroendocrine neoplasm|appendiceal neuroendocrine tumor|appendix NET|neuroendocrine neoplasm of appendix|appendix well differentiated endocrine tumor|NEN of appendix|appendiceal NEN NCIT:C96422|ICD10:D37.3|SCTID:725167001|ONCOTREE:AWDNET|Orphanet:100079|ICD10:C18.1 owl:Class UBERON:0002216 biolink:NamedThing symphysis Cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage. Examples: pubic symphysis, intervertebral symphysis, manubriosternal joint.[FMA] tmpak2llvmy_mondo_relaxed.owl secondary cartilaginous joint owl:Class UBERON:0002213 biolink:NamedThing cartilaginous joint Nonsynovial joint in which the articulating bones or cartilages are connected by cartilage. Examples: Spheno-occipital synchondrosis, first sternocostal joint, pubic symphysis.[FMA] tmpak2llvmy_mondo_relaxed.owl articulatio cartilaginea|junctura cartilaginea owl:Class GO:0090324 biolink:NamedThing negative regulation of oxidative phosphorylation Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002082 biolink:NamedThing regulation of oxidative phosphorylation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpak2llvmy_mondo_relaxed.owl OXPHOS owl:Class MONDO:0000971 biolink:NamedThing chest wall lipoma A benign adipose tissue neoplasm of the chest wall. tmpak2llvmy_mondo_relaxed.owl lipoma of chest wall|chest wall lipoma|lipoma of the chest wall ICD9:214.8|NCIT:C6719|DOID:10200|SCTID:448270009|UMLS:C1332932 owl:Class MONDO:0021529 biolink:NamedThing benign neoplasm of chest wall A benign neoplasm that involves the chest wall. tmpak2llvmy_mondo_relaxed.owl chest wall benign neoplasm|benign neoplasm of the chest wall|benign chest wall tumor|benign chest wall neoplasm|benign tumor of chest wall|benign tumor of the chest wall SCTID:92058007|ICD9:229.8|NCIT:C8529|UMLS:C0684831 owl:Class MONDO:0002837 biolink:NamedThing sarcomatoid transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. tmpak2llvmy_mondo_relaxed.owl sarcomatoid transitional cell carcinoma|transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma NCIT:C4120|ICDO:8122/3|DOID:4014|UMLS:C0334271 owl:Class MONDO:0006406 biolink:NamedThing sarcomatoid carcinoma A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. tmpak2llvmy_mondo_relaxed.owl pseudosarcomatous carcinoma|sarcomatoid carcinoma|spindle cell carcinoma|spindle cell carcinoma (morphologic abnormality)|carcinoma, spindle cell, malignant EFO:1000520|ICDO:8033/3|NCIT:C27004|UMLS:C0205697|DOID:4015|ICDO:8032/3 owl:Class HGNC:2235 biolink:NamedThing KLF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006728 biolink:NamedThing discitis Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. tmpak2llvmy_mondo_relaxed.owl intervertebral disk inflammation|inflammation of intervertebral disk 2022-01-01 UMLS:C0012624|MESH:D015299|SCTID:2304001|ICD9:722.90|EFO:1000900|DOID:10986|ICD10:M46.4 Reason: out of scope. Term to consider: MONDO:800000. MONDO:800000 owl:Class MONDO:0037847 biolink:NamedThing vertebral joint disease A disease that involves the intervertebral joint. tmpak2llvmy_mondo_relaxed.owl disease of intervertebral joint|intervertebral joint disease or disorder|disorder of intervertebral joint|disease or disorder of intervertebral joint|intervertebral joint disease|spondyloarthropathy|disorder of joint of spine SCTID:372109003 owl:Class CHEBI:16134 biolink:NamedThing ammonia An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. tmpak2llvmy_mondo_relaxed.owl [NH3]|NH3|AMMONIA|amoniaco|ammoniac|azane|Ammoniak|ammonia|Ammonia|R-717|spirit of hartshorn owl:Class UBERON:4000164 biolink:NamedThing caudal fin The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines. tmpak2llvmy_mondo_relaxed.owl tail|uroptérygie|tail fin|nageoire caudale|uroptère owl:Class GO:2000859 biolink:NamedThing negative regulation of aldosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000856 biolink:NamedThing negative regulation of mineralocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000082 biolink:NamedThing melanocyte of foreskin Any melanocyte of skin that is part of a skin of prepuce of penis. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T19:10:45Z cell owl:Class CL:1000458 biolink:NamedThing melanocyte of skin A melanocyte that is part of the skin of body. tmpak2llvmy_mondo_relaxed.owl skin melanocyte CALOHA:TS-2374|FMA:72144 cell owl:Class GO:0045725 biolink:NamedThing positive regulation of glycogen biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpak2llvmy_mondo_relaxed.owl positive regulation of glycogen anabolism|upregulation of glycogen biosynthetic process|activation of glycogen biosynthetic process|stimulation of glycogen biosynthetic process|positive regulation of glycogen biosynthesis|positive regulation of glycogen formation|up regulation of glycogen biosynthetic process|positive regulation of glycogen synthesis|up-regulation of glycogen biosynthetic process owl:Class MONDO:0001784 biolink:NamedThing malignant renovascular hypertension tmpak2llvmy_mondo_relaxed.owl malignant renal hypertension|malignant renal artery stenosis DOID:13730 owl:Class MONDO:0000959 biolink:NamedThing malignant hypertensive renal disease tmpak2llvmy_mondo_relaxed.owl SCTID:65443008|ICD9:403.00|DOID:10177|UMLS:C0155593 owl:Class MONDO:0001162 biolink:NamedThing impulse control disorder A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. tmpak2llvmy_mondo_relaxed.owl ICD|impulse-control disorder ICD10:F63.9|NCIT:C34723|ICD9:312.39|ICD9:312.30|DOID:10937|SCTID:66347000 owl:Class UBERON:0009480 biolink:NamedThing endoderm of buccopharyngeal membrane An endoderm that is part of a buccopharyngeal membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014401 biolink:NamedThing renal venous blood vessel Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. tmpak2llvmy_mondo_relaxed.owl kidney venous system|kidney venous blood vessel|venous blood vessel of kidney owl:Class UBERON:0003517 biolink:NamedThing kidney blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of kidney|renal blood vessel owl:Class GO:0005262 biolink:NamedThing calcium channel activity Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015085 biolink:NamedThing calcium ion transmembrane transporter activity Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005728 biolink:NamedThing extraembryonic mesoderm . tmpak2llvmy_mondo_relaxed.owl extra-embryonic mesoderm|extraembryonic mesenchyme owl:Class UBERON:0005292 biolink:NamedThing extraembryonic tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. tmpak2llvmy_mondo_relaxed.owl extra-embryonic tissue owl:Class MONDO:0004175 biolink:NamedThing mucin-rich endometrial endometrioid adenocarcinoma tmpak2llvmy_mondo_relaxed.owl UMLS:C1513711|NCIT:C8717|DOID:7293 owl:Class PATO:0001687 biolink:NamedThing elevation A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000140 biolink:NamedThing position A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. tmpak2llvmy_mondo_relaxed.owl relational spatial quality|placement|location owl:Class CHEBI:30742 biolink:NamedThing ethylene glycol A 1,2-glycol compound produced via reaction of ethylene oxide with water. tmpak2llvmy_mondo_relaxed.owl Ethanediol|1,2-Ethanediol|Monoethylene glycol|2-Hydroxyethanol|ethylene glycol|HO-CH2-CH2-OH|Ethylene glycol|Glycol|1,2-Dihydroxyethane|ethane-1,2-diol|1,2-ETHANEDIOL owl:Class CHEBI:13643 biolink:NamedThing glycol A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. tmpak2llvmy_mondo_relaxed.owl glycols|Glykol owl:Class MONDO:0021326 biolink:NamedThing malignant neoplasm of cervical esophagus A cancer that involves the cervical part of esophagus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus|malignant neoplasm of cervical part of esophagus|cervical part of esophagus cancer|malignant cervical part of esophagus neoplasm NCIT:C4763|SCTID:187722004|ICD9:150.0|UMLS:C0496773 owl:Class GO:0042030 biolink:NamedThing ATPase inhibitor activity Binds to and stops, prevents or reduces an ATP hydrolysis activity. tmpak2llvmy_mondo_relaxed.owl adenosinetriphosphatase inhibitor owl:Class HGNC:6106 biolink:NamedThing FOXP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000591 biolink:NamedThing intrinsic cardiomyopathy A cardiomyopathy that is due to abnormalities in heart muscle cells. tmpak2llvmy_mondo_relaxed.owl intrinsic cardiomyopathy|primary cardiomyopathy DOID:0060036 owl:Class MONDO:0012052 biolink:NamedThing ALG1-CDG A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). tmpak2llvmy_mondo_relaxed.owl ALG1-CDG|carbohydrate deficient glycoprotein syndrome type Ik|CDG-Ik|congenital disorder of glycosylation type Ik|CDG Ik|CDG 1K|congenital disorder of glycosylation, type Ik|CDG1K|congenital disorder of glycosylation type 1k|mannosyltransferase 1 deficiency|ALG1-CDG (CDG-Ik)|CDG syndrome type Ik OMIM:608540|DOID:0080563|Orphanet:79327|UMLS:C2931005|SCTID:720941007|ICD10:E77.8|GARD:0009838|MESH:C535749 owl:Class MONDO:0014072 biolink:NamedThing D,L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. tmpak2llvmy_mondo_relaxed.owl combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|D2L2AD|D,L-2-HGA|D,L-2-hydroxyglutaric acidemia|combined D-2- and L-2-hydroxyglutaric aciduria|D,L-2-hydroxyglutaric aciduria DOID:0111619|SCTID:713401006|ICD9:270.8|ICD10:E72.8|UMLS:C4076194|OMIM:615182|Orphanet:356978 owl:Class MONDO:0016001 biolink:NamedThing 2-hydroxyglutaric aciduria 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. tmpak2llvmy_mondo_relaxed.owl 2-hydroxyglutaric acidemia|2-hydroxyglutaric aciduria|2-HGA ICD9:270.8|ICD10:E72.8|GARD:0010761|SCTID:698870008|MESH:C535306|UMLS:C2746066|NCIT:C128187|DOID:0050573|Orphanet:19 https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria owl:Class MONDO:0006329 biolink:NamedThing olfactory neuroblastoma An olfactory neuroblastoma arising in the paranasal sinus. tmpak2llvmy_mondo_relaxed.owl olfactory neuroblastoma|Asthesioneuroblastoma|Esthesioneuroepithelioma|Esthesioneuroepithelioma [dup] (morphologic abnormality)|paranasal sinus olfactory neuroblastoma|esthesioneuroblastoma|esthesioneuroblastoma (morphologic abnormality)|Esthesioneuroepithelioma (morphologic abnormality)|olfactory esthesioneuroblastoma|olfactory neuroepithelioma|Asthesioneuroblastoma (morphologic abnormality) EFO:1000407|DOID:369|ICDO:9523/3|ICDO:9522/3|ONCOTREE:ONBL|NCIT:C3789 owl:Class MONDO:0002749 biolink:NamedThing extracranial neuroblastoma A neuroblastoma arising from an anatomic site other than the brain. tmpak2llvmy_mondo_relaxed.owl extracranial neuroblastoma NCIT:C5437|UMLS:C1333499|DOID:371 owl:Class MONDO:0002850 biolink:NamedThing central nervous system rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of central nervous system|central nervous system rhabdomyosarcoma (disease)|rhabdomyosarcoma of the CNS|rhabdomyosarcoma of CNS|central nervous system rhabdomyosarcoma|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of the central nervous system|CNS rhabdomyosarcoma DOID:4048|UMLS:C1332891|NCIT:C5464 owl:Class MONDO:0002217 biolink:NamedThing central nervous system sarcoma A sarcoma that arises from the central nervous system. tmpak2llvmy_mondo_relaxed.owl sarcoma of the CNS|sarcoma of CNS|sarcoma of the central nervous system|central nervous system sarcoma|sarcoma of central nervous system|CNS sarcoma DOID:2133|NCIT:C5153|UMLS:C1332892 owl:Class MONDO:0000951 biolink:NamedThing thymus lymphoma A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl thymus lymphoma|Thymus lymphoma|thymic lymphoma|primary thymic lymphoma|lymphoma of thymus|lymphoma of Thymus|lymphoma of the Thymus NCIT:C6451|DOID:10146|EFO:1000054|UMLS:C1336745 owl:Class GO:0010954 biolink:NamedThing positive regulation of protein processing Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpak2llvmy_mondo_relaxed.owl positive regulation of protein maturation by peptide bond cleavage owl:Class MONDO:0014493 biolink:NamedThing autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. tmpak2llvmy_mondo_relaxed.owl CTLA4 haploinsufficiency with autoimmune infiltration|ALPS type 5|chai|ALPS due to CTLA4 haploinsuffiency|ALPS type V|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome, type V|CTLA-4 haploinsufficiency with autoimmune infiltration disease|CTLA4 haploinsufficiency|ALPS5|autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|autoimmune lymphoproliferative syndrome, type 5|autoimmune lymphoproliferative syndrome type 5 Orphanet:436159|OMIM:616100|NCIT:C126341|UMLS:C4015214|ICD10:D47.9|GARD:0012316 https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency owl:Class GO:0010628 biolink:NamedThing positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014154 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate C Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. tmpak2llvmy_mondo_relaxed.owl RI-CMT type C|autosomal recessive intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5|CMTRIC|PLEKHG5 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive Intermediate type C|RI-CMTC|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|Charcot-Marie-Tooth disease recessive intermediate type C|Charcot-Marie-Tooth disease, recessive intermediate C Orphanet:369867|OMIM:615376|UMLS:C3809309|ICD10:G60.0|DOID:0110198 owl:Class GO:0033604 biolink:NamedThing negative regulation of catecholamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. tmpak2llvmy_mondo_relaxed.owl inhibition of catecholamine secretion|downregulation of catecholamine secretion|down-regulation of catecholamine secretion|down regulation of catecholamine secretion owl:Class GO:0051953 biolink:NamedThing negative regulation of amine transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down-regulation of amine transport|down regulation of amine transport|inhibition of amine transport|downregulation of amine transport owl:Class MONDO:0004535 biolink:NamedThing childhood choriocarcinoma of the ovary A non-gestational choriocarcinoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl choriocarcinoma of ovary of childhood|pediatric ovarian choriocarcinoma|pediatric choriocarcinoma of the ovary|childhood ovarian choriocarcinoma|childhood choriocarcinoma of ovary|pediatric choriocarcinoma of ovary UMLS:C1332987|NCIT:C6549|DOID:8336 owl:Class MONDO:0004322 biolink:NamedThing non-gestational ovarian choriocarcinoma A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. tmpak2llvmy_mondo_relaxed.owl DOID:7665|NCIT:C39991|UMLS:C1518355 owl:Class MONDO:0014951 biolink:NamedThing Sotos syndrome 3 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. tmpak2llvmy_mondo_relaxed.owl Sotos syndrome type 3|SOTOS3|Sotos syndrome 3|Sotos syndrome caused by mutation in APC2|APC2 Sotos syndrome OMIM:617169|UMLS:C4310684 owl:Class HGNC:6122 biolink:NamedThing IRF7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012823 biolink:NamedThing colorectal cancer, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl CRCS7|colorectal cancer, susceptibility to, 7|colorectal cancer, susceptibility to, on chromosome 11 OMIM:612232 owl:Class UBERON:0003663 biolink:NamedThing hindlimb muscle Any muscle organ that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindlimb muscle organ|muscle organ of inferior member|free lower limb muscle|muscle organ of hindlimb|muscle organ of lower extremity|lower limb skeletal muscle|muscle of free lower limb|muscle of posterior limb|inferior member muscle organ|lower extremity muscle organ|muscle organ of hind limb|hind limb muscle organ owl:Class UBERON:0014795 biolink:NamedThing pelvic appendage muscle Any muscle organ that is part of a pelvic appendage (hindlimb or pelvic fin). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007921 biolink:NamedThing yellow nail syndrome Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. tmpak2llvmy_mondo_relaxed.owl yellow nail syndrome|YNS|lymphedema and Yellow nails|lymphedema with yellow nails|Yns SCTID:400211001|ICD9:757.0|NCIT:C85238|UMLS:C0221348|Orphanet:662|MedDRA:10048244|EFO:1001452|GARD:0000184|MESH:D056684|ICD9:703.8|DOID:0050468|OMIM:153300|ICD10:L60.5 https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome owl:Class MONDO:0010941 biolink:NamedThing nocturnal enuresis, 2 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. tmpak2llvmy_mondo_relaxed.owl enuresis, nocturnal, 2|ENUR2 MESH:C563439|UMLS:C1833268|OMIM:600808 owl:Class MONDO:0000022 biolink:NamedThing nocturnal enuresis Urination during sleep. tmpak2llvmy_mondo_relaxed.owl enuresis, nocturnal|sleep enuresis|bedwetting MESH:D053206|NCIT:C118172 See genetic heterogeneity of OMIM 600631. owl:Class GO:1901293 biolink:NamedThing nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. tmpak2llvmy_mondo_relaxed.owl nucleoside phosphate anabolism|nucleoside phosphate biosynthesis|nucleoside phosphate formation|nucleoside phosphate synthesis owl:Class GO:0071396 biolink:NamedThing cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011914 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome tmpak2llvmy_mondo_relaxed.owl HLTS|hypotrichosis-lymphedema-telangiectasia syndrome OMIM:607823|UMLS:C1843004|DOID:0111361|MESH:C564327 owl:Class MONDO:0009818 biolink:NamedThing autosomal recessive osteopetrosis 3 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. tmpak2llvmy_mondo_relaxed.owl OPTB3|autosomal recessive osteopetrosis 3 with renal tubular acidosis|Autosomal Recessive osteopetrosis, type 3|osteopetrosis (disease) caused by mutation in CA2|mixed RTA|CA2 osteopetrosis (disease)|carbonic anhydrase 2 deficiency|Guibaud-Vainsel syndrome|osteopetrosis autosomal recessive 3|renal tubular acidosis type 3|osteopetrosis, autosomal recessive 3|marble brain disease|mixed renal tubular acidosis|autosomal recessive osteopetrosis type 3|osteopetrosis, autosomal recessive type 3|Guibaud Vainsel syndrome|carbonic anhydrase II deficiency|osteopetrosis with renal tubular acidosis ICD10:Q78.2|ICD9:588.89|DOID:0110941|GARD:0004154|Orphanet:2785|NCIT:C118438|SCTID:254122007|MESH:C536058|OMIM:259730 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 owl:Class MONDO:0002842 biolink:NamedThing bacterial gastritis Gastritis resulting from bacteria. tmpak2llvmy_mondo_relaxed.owl bacterial gastritis|Bacteria caused gastritis (disease)|Bacteria gastritis (disease) NCIT:C27340|SCTID:723096000|UMLS:C0948039|DOID:4033 owl:Class MONDO:0010368 biolink:NamedThing immunodeficiency without anhidrotic ectodermal dysplasia tmpak2llvmy_mondo_relaxed.owl immunodeficiency without anhidrotic ectodermal dysplasia|immunodeficiency, Pure|immunodeficiency, isolated GARD:0009917|MESH:C536289|UMLS:C1845117|OMIM:300584 https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia owl:Class OBO:CHR_9606-chr22 biolink:NamedThing chr22 (Human) tmpak2llvmy_mondo_relaxed.owl 50818468 0 hg38 owl:Class HGNC:25198 biolink:NamedThing SLC25A46 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004030 biolink:NamedThing aldehyde dehydrogenase [NAD(P)+] activity Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+. tmpak2llvmy_mondo_relaxed.owl aldehyde:NAD(P)+ oxidoreductase activity|ALDH owl:Class GO:0016620 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015149 biolink:NamedThing pure hereditary spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure HSP|uncomplicated familial spastic paraplegia|uncomplicated SPG|uncomplicated hereditary spastic paraplegia|Pure SPG|Pure familial spastic paraplegia|uncomplicated HSP ICD10:G11.4|Orphanet:102012|SCTID:230260007|UMLS:C0393555 owl:Class UBERON:0001072 biolink:NamedThing posterior vena cava A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. tmpak2llvmy_mondo_relaxed.owl caudal vena cava|postcava|inferior vena cava|vena cava inferior|posterior vena cava|inferior caval vein owl:Class UBERON:0004087 biolink:NamedThing vena cava Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. tmpak2llvmy_mondo_relaxed.owl caval vein|venae cavae owl:Class MONDO:0017345 biolink:NamedThing Epstein-Barr virus-associated mesenchymal tumor tmpak2llvmy_mondo_relaxed.owl EBV-associated mesenchymal tumor Orphanet:289656|UMLS:CN203006 owl:Class MONDO:0017342 biolink:NamedThing Epstein-Barr virus-related tumor tmpak2llvmy_mondo_relaxed.owl EBV-related tumor Orphanet:289638|UMLS:CN203004 owl:Class HGNC:12382 biolink:NamedThing TSPYL1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045917 biolink:NamedThing positive regulation of complement activation Any process that activates or increases the frequency, rate or extent of complement activation. tmpak2llvmy_mondo_relaxed.owl up-regulation of complement activation|activation of complement activation|upregulation of complement activation|up regulation of complement activation|positive regulation of complement cascade|stimulation of complement activation owl:Class UBERON:0035128 biolink:NamedThing manus cartilage element tmpak2llvmy_mondo_relaxed.owl hand cartilage condensation owl:Class MONDO:0014917 biolink:NamedThing developmental and epileptic encephalopathy, 42 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 42; EIEE42|CACNA1A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 42|DEE42|EIEE42|epileptic encephalopathy, early infantile, type 42|early infantile epileptic encephalopathy caused by mutation in CACNA1A DOID:0080454|OMIM:617106|UMLS:C4310716 owl:Class MONDO:0002358 biolink:NamedThing laryngeal carcinoma Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation. tmpak2llvmy_mondo_relaxed.owl cancer of the larynx|laryngeal cancer|carcinoma of larynx|laryngeal throat cancer|larynx carcinoma|laryngeal carcinoma|cancer of larynx|carcinoma of the larynx UMLS:C0595989|GARD:0006862|NCIT:C4855|SCTID:276975007|DOID:2600 owl:Class MONDO:0014758 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. tmpak2llvmy_mondo_relaxed.owl MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|RUSAT2|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM:616738|UMLS:C4225221 owl:Class MONDO:0011555 biolink:NamedThing radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). tmpak2llvmy_mondo_relaxed.owl RUSAT|radioulnar synostosis with amegakaryocytic thrombocytopenia|ATRUS syndrome OMIMPS:605432|Orphanet:71289|MESH:C565328|ICD10:Q87.2|SCTID:721882001 owl:Class MONDO:0006446 biolink:NamedThing testicular embryonal carcinoma A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. tmpak2llvmy_mondo_relaxed.owl testicular embryonal carcinoma|testis embryonal carcinoma|embryonal carcinoma of testis|embryonal testis carcinoma|embryonal carcinoma of the testis UMLS:C0238448|NCIT:C6341|DOID:5680|EFO:1000565 owl:Class MONDO:0002859 biolink:NamedThing breast rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of breast|rhabdomyosarcoma of the breast|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma (disease)|breast rhabdomyosarcoma DOID:4060|NCIT:C5190|UMLS:C1332637 owl:Class UBERON:0013631 biolink:NamedThing sesamoid element Ossicle that develops within bands of dense, regular connective tissue (e.g., tendons and ligaments). Sesamoids are generally located proximate to a bony prominence, over which the dense regular connective tissue wraps, and/or a joint or articulation. tmpak2llvmy_mondo_relaxed.owl sesamoid owl:Class MONDO:0002322 biolink:NamedThing angiodysplasia Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. tmpak2llvmy_mondo_relaxed.owl angiodysplasia of stomach and duodenum with hemorrhage SCTID:90858003|DOID:2494|MESH:D016888|ICD9:537.83|UMLS:C0085411 owl:Class HGNC:4704 biolink:NamedThing GYPC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014237 biolink:NamedThing autosomal recessive nonsyndromic deafness 76 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in SYNE4|autosomal recessive nonsyndromic deafness type 76|autosomal recessive nonsyndromic deafness 76|DFNB76|SYNE4 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 76|autosomal recessive deafness 76|deafness, autosomal recessive type 76 OMIM:615540|DOID:0110524|UMLS:C3147083|ICD10:H90.3 owl:Class MONDO:0010219 biolink:NamedThing xylosidase deficiency tmpak2llvmy_mondo_relaxed.owl xylosidase deficiency UMLS:C1848407|MESH:C564730|OMIM:278900 owl:Class MONDO:0008264 biolink:NamedThing autosomal dominant medullary cystic kidney disease with or without hyperuricemia A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). tmpak2llvmy_mondo_relaxed.owl medullary cystic kidney disease|autosomal dominant medullary cystic kidney disease|MCKD|polycystic kidneys, medullary type|ADTKD|autosomal dominant medullary cystic kidney disease with or without hyperuricemia|autosomal dominant interstitial kidney disease|medullary cystic disease|autosomal dominant tubulointerstitial kidney disease UMLS:CN536252|UMLS:CN204412|GARD:0010801|MEDGEN:881357|Orphanet:34149|MESH:C536137|MEDGEN:358137|UMLS:C4511620|SCTID:444699000|UMLS:C4054549|ICD10:Q61.5|EFO:0008617 https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease owl:Class MONDO:0017662 biolink:NamedThing miscellaneous movement disorder due to genetic neurodegenerative disease tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN203549|Orphanet:307058 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: movement disorder' MONDO_0005395 owl:Class MONDO:0017641 biolink:NamedThing miscellaneous movement disorder due to neurodegenerative disease tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:306695|UMLS:CN203537 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: movement disorder' MONDO_0005395 owl:Class UBERON:0010557 biolink:NamedThing pedal digit 1 metatarsal cartilage element A pedal digit metatarsal cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl toe 1 metatarsal cartilage condensation|foot digit 1 metatarsal cartilage element|hind limb digit 1 metatarsal cartilage condensation|pedal digit I metatarsal cartilage element owl:Class UBERON:0010697 biolink:NamedThing pedal digit metatarsal cartilage element tmpak2llvmy_mondo_relaxed.owl foot digit metatarsal cartilage condensation|hind limb digit metatarsal cartilage condensation|metatarsal cartilage condensation owl:Class ENVO:02000103 biolink:NamedThing metallic dust Dust which is composed primarily of some metallic material. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009808 biolink:NamedThing osteoid osteoma A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. tmpak2llvmy_mondo_relaxed.owl osteoid osteoma|osteoid osteoma (disease) osteoid osteoma (disease) HP:0030433|SCTID:302859004|UMLS:C0029441|NCIT:C3297|OMIM:259550|MESH:D010017|ICDO:9191/0 owl:Class MONDO:0005523 biolink:NamedThing steroid inherited metabolic disorder Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. tmpak2llvmy_mondo_relaxed.owl DOID:1701|MESH:D043202|EFO:0005590|UMLS:C1257809 owl:Class MONDO:0010633 biolink:NamedThing iris hypoplasia with glaucoma tmpak2llvmy_mondo_relaxed.owl iris hypoplasia and glaucoma|iris hypoplasia with glaucoma|IHG OMIM:308500|GARD:0009171|MESH:C535538|UMLS:C1839928 https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma owl:Class GO:1901191 biolink:NamedThing negative regulation of formation of translation initiation ternary complex Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. tmpak2llvmy_mondo_relaxed.owl downregulation of formation of translation initiation ternary complex|inhibition of translation initiation ternary complex assembly|inhibition of formation of translation initiation ternary complex|down-regulation of translation initiation ternary complex assembly|downregulation of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex|down-regulation of formation of translation initiation ternary complex|negative regulation of translation initiation ternary complex assembly|down regulation of translation initiation ternary complex assembly owl:Class GO:0031333 biolink:NamedThing negative regulation of protein-containing complex assembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. tmpak2llvmy_mondo_relaxed.owl inhibition of protein complex assembly|down regulation of protein complex assembly|negative regulation of protein complex assembly|downregulation of protein complex assembly|down-regulation of protein complex assembly owl:Class MONDO:0043247 biolink:NamedThing Mallory-Weiss syndrome A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. tmpak2llvmy_mondo_relaxed.owl mucosal Lacerations-gastroesophageal junction|junctions, mucosal Lacerations-gastroesophageal|Mallory Weiss laceration|Mallory Weiss tear|Lacerations-gastroesophageal junction, mucosal|Mallory-Weiss tear|gastroesophageal laceration hemorrhage|laceration-hemorrhage, gastroesophageal|Mallory-Weiss laceration|mucosal Lacerations gastroesophageal junction|mucosal Lacerations-gastroesophageal junctions|junction, mucosal Lacerations-gastroesophageal|laceration-hemorrhages, gastroesophageal|Lacerations-gastroesophageal junctions, mucosal|Mallory-Weiss syndrome|laceration, Mallory-Weiss|syndrome, Mallory-Weiss|gastroesophageal laceration-hemorrhage|mucosal lacerations - gastroesophageal junction|gastroesophageal laceration-hemorrhages|Mallory Weiss syndrome|gastroesophageal laceration-hemorrhage syndrome|gastro-esophageal laceration-hemorrhage syndrome NCIT:C84881|SCTID:35265002|UMLS:C0024633|GARD:0006967|MESH:D008309 owl:Class MONDO:0004186 biolink:NamedThing cranial nodular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl cranial nodular fasciitis|cranial pseudosarcomatous fasciitis UMLS:C1333162|DOID:7326|NCIT:C27248 owl:Class MONDO:0060491 biolink:NamedThing neurodevelopmental disorder with involuntary movements tmpak2llvmy_mondo_relaxed.owl NEDIM|neurodevelopmental disorder with involuntary movements OMIM:617493 Editor note: todo - check orphanet xref owl:Class MONDO:0043352 biolink:NamedThing fournier gangrene An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. tmpak2llvmy_mondo_relaxed.owl fournier's gangrene|fournier gangrene|Fourniers disease|Fournier's gangrene|Fourniers gangrene|Fournier disease|gangrene, Fournier|Fournier's disease|gangrene, Fournier's UMLS:C0238419|GARD:0010912|MESH:D018934|SCTID:398318005 owl:Class MONDO:0043768 biolink:NamedThing thrombocytopenic purpura Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. tmpak2llvmy_mondo_relaxed.owl thrombocytopenic purpuras|thrombopenic purpuras|thrombopenic purpura|purpuras, thrombopenic|purpuras, thrombocytopenic|thrombocytopenic purpura|purpura, thrombopenic SCTID:302873008|MESH:D011696|UMLS:C0857305|NCIT:C26870 owl:Class GO:0010922 biolink:NamedThing positive regulation of phosphatase activity Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025449 biolink:NamedThing paratuberculosis A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. tmpak2llvmy_mondo_relaxed.owl disease, Johne's|Johne disease|disease, Johne|Paratuberculoses|Johne's disease|Johnes disease UMLS:C0030524|MESH:D010283 owl:Class MONDO:0005152 biolink:NamedThing hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency|pituitary insufficiency|pituitary hypofunction ICD10:E23.0|EFO:0001380|SCTID:74728003|NCIT:C62591|UMLS:C0020635|MESH:D007018|GARD:0002917|DOID:9406 https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism owl:Class MONDO:0010731 biolink:NamedThing Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. tmpak2llvmy_mondo_relaxed.owl Sgbs|SGBS|SGB syndrome|DGSX|Simpson-Golabi-Behmel syndrome|dysplasia gigantism syndrome, X-linked|Golabi-Rosen syndrome|SDYS|X-linked dysplasia gigantism syndrome|Sara Angers syndrome Orphanet:373|GARD:0007649|ICD9:759.89|MESH:C537340|SCTID:439143004|NCIT:C131002|ICD10:Q87.3 https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome owl:Class HGNC:1100 biolink:NamedThing BRCA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014876 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit tmpak2llvmy_mondo_relaxed.owl head of distal phalanx of digit of pes|head of distal phalanx of toe|distal end of distal phalanx of toe|head of distal phalanx of digit of foot owl:Class MONDO:0060551 biolink:NamedThing cerebellar atrophy, developmental delay, and seizures tmpak2llvmy_mondo_relaxed.owl CADEDS|cerebellar atrophy, developmental delay, and seizures UMLS:C4539985|OMIM:617643 owl:Class HP:0006487 biolink:NamedThing Bowing of the long bones A bending or abnormal curvature of a long bone. tmpak2llvmy_mondo_relaxed.owl Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowing of long bones|Diaphyseal bowing|Bowed long bones UMLS:C1855340 Curvatures of a long bone such as femur, tibia, or fibula. peter 2008-03-28T05:56:00Z HP:0005087|HP:0002976|HP:0006404|HP:0006452|HP:0005908|HP:0006451 human_phenotype owl:Class HP:0000940 biolink:NamedThing Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. tmpak2llvmy_mondo_relaxed.owl Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone|Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Abnormality of shaft of long bone of the limbs|Anomaly of the limb diaphyses UMLS:C4021787 HP:0006504 human_phenotype owl:Class MONDO:0013404 biolink:NamedThing hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. tmpak2llvmy_mondo_relaxed.owl hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase|hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency UMLS:C3151058|OMIM:613752|GARD:0013177|SCTID:724039002|ICD10:E72.1|UMLS:C4510276|DOID:0111039|Orphanet:88618 owl:Class MONDO:0004047 biolink:NamedThing sphenoidal sinus neoplasm A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl tumor of sphenoid sinus|sphenoidal sinus neoplasm (disease)|neoplasm of the sphenoidal sinus|neoplasm of sphenoidal sinus|sphenoid sinus neoplasm|tumor of the sphenoid sinus|tumor of sphenoidal sinus|sphenoidal sinus tumor|neoplasm of the sphenoid sinus|neoplasm of sphenoid sinus|sphenoid sinus tumor|tumor of the sphenoidal sinus|sphenoidal sinus neoplasm UMLS:C0345676|NCIT:C6792|DOID:6947|SCTID:126679002 MONDO:0021216 owl:Class MONDO:0002785 biolink:NamedThing skull base neoplasm A benign or malignant neoplasm that affects the skull base. tmpak2llvmy_mondo_relaxed.owl tumors of skull base|tumor of the skull base|tumor of skull base|tumor of basicranium|neoplasm of skull base|basicranium tumor|skull base cancer|neoplasm of basicranium|skull base neoplasm|basicranium neoplasm|neoplasm of the skull base|basicranium neoplasm (disease)|skull base tumor MESH:D019292|NCIT:C4676|DOID:3842|UMLS:C0376527 owl:Class MONDO:0012348 biolink:NamedThing maturity-onset diabetes of the young type 8 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus MODY type 8|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|type 8 maturity-onset diabetes of the young|maturity-onset diabetes of the young, type 8|diabetes-pancreatic exocrine dysfunction syndrome|diabetes and pancreatic exocrine dysfunction|MODY type 8|diabetes and pancreatic exocrine|DPED|CEL maturity-onset diabetes of the young (disease)|MODY8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|maturity-onset diabetes of the young type 8 with exocrine dysfunction MESH:C565225|OMIM:609812|SCTID:609575003|DOID:0111105|GARD:0010662 https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8 owl:Class HGNC:61 biolink:NamedThing ABCD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011717 biolink:NamedThing hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia, familial, 6|hi/HA syndrome|HHF6|hyperinsulinism-hyperammonemia syndrome|HA/hi syndrome|GLUD1 hyperinsulinism|hyperinsulinism/hyperammonemia syndrome|glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, type 6|hyperinsulinism hyperammonemia syndrome|GDH hyperinsulinism|hyperinsulinemic hypoglycemia familial 6 OMIM:606762|MESH:C538375|Orphanet:35878|DOID:0070217|ICD10:E72.8|GARD:0009931|NCIT:C131832|UMLS:C1847555 https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome owl:Class MONDO:0004739 biolink:NamedThing urea cycle disorder A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. tmpak2llvmy_mondo_relaxed.owl urea cycle metabolism disorder|urea cycle defect|disorder of urea cycle metabolism and ammonia detoxification|inborn disorder of urea cycle metabolism and ammonia detoxification|disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|UCD|disorder of urea cycle metabolism|inborn urea cycle disorder NCIT:C84785|ICD10:E72.20|UMLS:C0154246|DOID:9267|Orphanet:79167|SCTID:36444000|ICD10:E72.2|MESH:D056806|GARD:0007837|ICD9:270.6 owl:Class MONDO:0009272 biolink:NamedThing German syndrome German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl German syndrome SCTID:733037000|UMLS:C3887495|OMIM:231080|MESH:C562543|ICD10:Q87.8|Orphanet:2077 owl:Class MONDO:0016009 biolink:NamedThing fetal trimethadione syndrome Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. tmpak2llvmy_mondo_relaxed.owl Orphanet:1913|SCTID:66351003|MESH:C537798|ICD9:759.89|ICD10:Q86.8|UMLS:C0265373 owl:Class HGNC:566 biolink:NamedThing AP3B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012193 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. tmpak2llvmy_mondo_relaxed.owl autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|HNRNPDL autosomal dominant limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G|muscular dystrophy limb-girdle type 1G|LGMD1G OMIM:609115|Orphanet:55596|DOID:0110306|GARD:0012531|SCTID:719990003|MESH:C563794|ICD10:G71.0 owl:Class MONDO:0015151 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant Autosomal dominant form of limb-girdle muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, autosomal dominant|limb-girdle muscular dystrophy, autosomal dominant|autosomal dominant limb-girdle muscular dystrophy DOID:0110273|Orphanet:102014|UMLS:CN228919|UMLS:CN043626|ICD10:G71.0|OMIMPS:603511 owl:Class MONDO:0017361 biolink:NamedThing congenital rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. tmpak2llvmy_mondo_relaxed.owl CRS|fetal rubella syndrome|congenital rubella syndrome|rubella congenital|congenital rubella|mother-to-child transmission of rubella syndrome Orphanet:290|MedDRA:10010618|NCIT:C34992|ICD9:771.0|UMLS:C0035921|SCTID:1857005|GARD:0004744|MESH:D012410|ICD10:P35.0|EFO:0007218 owl:Class MONDO:0004272 biolink:NamedThing urinary bladder tuberculosis A tuberculosis that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl tuberculous cystitis|tuberculosis of bladder, unspecified examination|urinary bladder tuberculosis|bladder tuberculosis|tuberculosis of bladder|bladder tuberculous DOID:754|ICD9:016.1|UMLS:C0152793|SCTID:32268008|ICD9:016.10|ICD9:016.14|ICD10:A18.12 owl:Class MONDO:0032663 biolink:NamedThing developmental and epileptic encephalopathy, 70 tmpak2llvmy_mondo_relaxed.owl DEE70|EIEE70|epileptic encephalopathy, early infantile, 70|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 OMIM:618298 owl:Class UBERON:0002445 biolink:NamedThing ulnare The postaxial bone of the proximal carpal region. Found in close approximation to the ulna, often in articulation[PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl cuneiform of hand|triquetral|os triquetrum|os ulnare|triquetrum|cuneiform bone of hand|cuneiform bone of manus|triangular|ulnar carpal bone|triquetral bone|triangular bone owl:Class UBERON:0001480 biolink:NamedThing proximal carpal bone A carpal bone that proximally_connected_to a forelimb zeugopod skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016832 biolink:NamedThing distal 7q11.23 microduplication syndrome Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. tmpak2llvmy_mondo_relaxed.owl Dup7q11.23D|distal dup(7)(q11.23)|distal trisomy 7q11.23 UMLS:CN202160|ICD10:Q92.3|Orphanet:261102 owl:Class MONDO:0012342 biolink:NamedThing 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. tmpak2llvmy_mondo_relaxed.owl chromosome 7Q11.23 triplication syndrome|Wbs triplication syndrome|Williams-Beuren region DUPLICATION syndrome|Somerville-Van Der Aa syndrome|trisomy 7q11.23|chromosome 7Q11.23 Duplication syndrome|dup(7)(q11.23)|7q11.23 duplication syndrome|Wbs Duplication syndrome GARD:0012076|OMIM:609757|ICD10:Q92.3|UMLS:C1857844|UMLS:C4512054|MESH:C565723|Orphanet:96121|SCTID:726707004 owl:Class MONDO:0019397 biolink:NamedThing unknown leukodystrophy tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|Orphanet:84096 owl:Class GO:0030887 biolink:NamedThing positive regulation of myeloid dendritic cell activation Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. tmpak2llvmy_mondo_relaxed.owl activation of myeloid dendritic cell activation|up regulation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation owl:Class GO:0036378 biolink:NamedThing calcitriol biosynthetic process from calciol Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. tmpak2llvmy_mondo_relaxed.owl calcitriol biosynthesis from calciol|1alpha,25-dihydroxycholecalciferol biosynthesis|1alpha,25(OH)2D3 biosynthesis|vitamin D3 activation|1alpha,25-dihydroxyvitamin D3 biosynthesis owl:Class GO:0070640 biolink:NamedThing vitamin D3 metabolic process The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol. tmpak2llvmy_mondo_relaxed.owl cholecalciferol metabolic process|calciol metabolic process|vitamin D3 metabolism owl:Class MONDO:0002051 biolink:NamedThing integumentary system disease A disease involving the integumental system. tmpak2llvmy_mondo_relaxed.owl integumental system disease or disorder|disorder of integument|disease or disorder of integumental system|disease of integumental system|integumental system disease|integumentary disease|disorder of integumental system SCTID:128598002|DOID:16|UMLS:C1290011 MONDO:0045027 owl:Class CHEBI:60531 biolink:NamedThing flavin(1-) Flavin protonated to pH 7.3 tmpak2llvmy_mondo_relaxed.owl an oxidized flavin owl:Class UBERON:0005483 biolink:NamedThing thymus lobe Either of the two lateral lobes that constitute the thymus. tmpak2llvmy_mondo_relaxed.owl lateral lobe of thymus|lobe of thymus owl:Class MONDO:0005724 biolink:NamedThing cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 tmpak2llvmy_mondo_relaxed.owl Cryptococcus neoformans caused disease or disorder|Cryptococcal infection|Cryptococcus neoformans infectious disease|European cryptococcosis|Busse-Buschke's disease|Cryptococcus neoformans disease or disorder|cryptococcus neoformans infection|torula|torulosis UMLS:C0010414|EFO:0007229|ICD10:B45.0|NCIT:C2967|ICD9:117.5|DOID:12053|SCTID:42386007|ICD10:B45.3|ICD10:B45.8|GARD:0006218|Orphanet:1546|MedDRA:10011490|ICD10:B45.9|ICD10:B45.7|ICD10:B45|ICD10:B45.2|MESH:D003453|ICD10:B45.1 https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis owl:Class MONDO:0007702 biolink:NamedThing heart-hand syndrome type 3 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. tmpak2llvmy_mondo_relaxed.owl heart-limb syndrome type 3|atriodigital dysplasia type 3|Cardiomelic syndrome type 3|upper limb malformations and congenital cardiac anomalies|brachydactyly and intraventricular conduction defect|heart-hand syndrome, Spanish type MESH:C535853|ICD10:Q87.2|UMLS:C1841657|OMIM:140450|Orphanet:1342|SCTID:721013001|GARD:0002614 owl:Class MONDO:0007732 biolink:NamedThing Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. tmpak2llvmy_mondo_relaxed.owl atrio-digital syndrome|atriodigital dysplasia type 1|atriodigital dysplasia|HOS 1|heart-hand syndrome, type 1|Cardiac-limb syndrome|HOS|heart-hand syndrome|atrio digital syndrome|HOLT-Oram syndrome|ventriculo-radial syndrome|heart-hand syndrome type 1|Holt-Oram syndrome|Hos1 MedDRA:10050469|UMLS:C0265264|NCIT:C125592|SCTID:19092004|DOID:0060468|ICD9:759.89|ICD10:Q87.2|GARD:0006666|Orphanet:392|MESH:C535326|OMIM:142900 owl:Class MONDO:0032651 biolink:NamedThing fibrosis, neurodegeneration, and cerebral angiomatosis tmpak2llvmy_mondo_relaxed.owl FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS|FINCA OMIM:618278 owl:Class MONDO:0014016 biolink:NamedThing hereditary spastic paraplegia 49 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. tmpak2llvmy_mondo_relaxed.owl TECPR2 hereditary spastic paraplegia|spastic paraplegia 49, autosomal recessive|autosomal recessive spastic paraplegia 49|hereditary spastic paraplegia 49|hereditary spastic paraplegia type 49|SPG49|autosomal recessive spastic paraplegia type 49|hereditary spastic paraplegia caused by mutation in TECPR2 UMLS:C3542549|Orphanet:320385|ICD10:G11.4|OMIM:615031|DOID:0110801 owl:Class MONDO:0013991 biolink:NamedThing obesity due to congenital leptin deficiency Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. tmpak2llvmy_mondo_relaxed.owl LEPD|obesity, morbid, nonsyndromic 1|leptin deficiency or dysfunction Orphanet:66628|ICD10:E66.8|GARD:0013015|UMLS:C3554224|DOID:0111334|OMIM:614962 https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency owl:Class UBERON:0010728 biolink:NamedThing sphenoid lesser wing pre-cartilage condensation A orbitosphenoid endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009896 biolink:NamedThing positive regulation of catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpak2llvmy_mondo_relaxed.owl positive regulation of breakdown|up regulation of catabolic process|stimulation of catabolic process|upregulation of catabolic process|positive regulation of catabolism|up-regulation of catabolic process|positive regulation of degradation|activation of catabolic process owl:Class UBERON:0004218 biolink:NamedThing lower leg nerve A nerve that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019880 biolink:NamedThing distal trisomy 5q Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). tmpak2llvmy_mondo_relaxed.owl trisomy 5qter|telomeric duplication 5q|distal duplication 5q|distal trisomy type 5q ICD10:Q92.3|SCTID:763274002|Orphanet:96097 owl:Class MONDO:0016955 biolink:NamedThing partial duplication of the long arm of chromosome 4 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl trisomy 4q|partial duplication of the long arm of chromosome type 4|partial duplication of chromosome 4q|chromosome 4, partial trisomy 4q|distal 4q trisomy|partial trisomy of chromosome 4q|Duplication 4q|partial trisomy of the long arm of chromosome 4|chromosome 4q duplication|Duplication 4q syndrome, partial|partial trisomy 4q|partial trisomy 4q syndrome|4q duplication|partial trisomy distal 4q|4q trisomy|dup(4q) syndrome, partial Orphanet:262860|ICD10:Q92.3|MESH:C537644|GARD:0005347|DOID:0111159|UMLS:C0795812 owl:Class MONDO:0019165 biolink:NamedThing central precocious puberty Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). tmpak2llvmy_mondo_relaxed.owl gonadotropin-dependent precocious puberty|CPP|gonadotropin-dependant precocious puberty|precocious puberty, central UMLS:C0342543|ICD10:E22.8|MESH:C562787|OMIMPS:176400|SCTID:237816004|ICD9:259.1|Orphanet:759 owl:Class MONDO:0040676 biolink:NamedThing great vessel cancer A malignant neoplasm arising from the great vessels. tmpak2llvmy_mondo_relaxed.owl malignant great vessel tumor|malignant great vessel of heart neoplasm|malignant great vessel neoplasm|great vessel of heart cancer|great vessel cancer|malignant neoplasm of great vessel of heart|cancer of great vessel of heart UMLS:C3665405|NCIT:C4575 owl:Class MONDO:0017317 biolink:NamedThing phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. tmpak2llvmy_mondo_relaxed.owl Phacomatosis pigmentokeratotica|organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies GARD:0004311|MESH:C537893|UMLS:C2931658|ICD10:Q85.8|SCTID:723455009|Orphanet:2874 owl:Class MONDO:0033204 biolink:NamedThing ciliary dyskinesia, primary, 37 tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 37, with or without situs inversus|primary ciliary dyskinesia 37|CILD37|ciliary dyskinesia, primary, 37 DOID:0080266|OMIM:617577 owl:Class MONDO:0017296 biolink:NamedThing glycerol kinase deficiency, adult form Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. tmpak2llvmy_mondo_relaxed.owl ICD10:E74.8|Orphanet:284414 owl:Class MONDO:0018459 biolink:NamedThing isolated glycerol kinase deficiency Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). tmpak2llvmy_mondo_relaxed.owl hyperglycerolemia|nonsyndromic inborn glycerol kinase deficiency|isolated inborn glycerol kinase deficiency|nonsyndromic glycerol kinase deficiency Orphanet:408|ICD10:E74.8|GARD:0002807 Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class UBERON:0000355 biolink:NamedThing pharyngeal mucosa A mucosa that is part of a pharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pharynx organ mucosa|tunica mucosa pharyngea|organ mucosa of pharynx|mucosa of pharynx|mucous membrane of the pharynx|mucosa of organ of pharynx|pharynx mucous membrane|tunica mucosa pharyngis|pharynx mucosa of organ|mucous membrane of pharynx|pharynx mucosa owl:Class MONDO:0022510 biolink:NamedThing atlanto-axial fusion tmpak2llvmy_mondo_relaxed.owl atlantoaxial joint fusion|atlantoaxial fusion GARD:0009219|MESH:C538196 https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion owl:Class MONDO:0014500 biolink:NamedThing atrial conduction disease Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted. tmpak2llvmy_mondo_relaxed.owl familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease|CCDD|CARDIAC conduction disease with or without dilated cardiomyopathy Orphanet:436242|ICD10:I45.8|EFO:0005304|OMIM:616117|UMLS:C4015285 owl:Class MONDO:0021225 biolink:NamedThing uvea neoplasm A neoplasm (disease) that involves the uvea. tmpak2llvmy_mondo_relaxed.owl tumor of uvea|neoplasm of the uvea|tumor of the uvea|uvea tumor|uveal tumor|uvea neoplasm (disease)|neoplasm of uvea|uveal neoplasm NCIT:C3436|UMLS:C0042162 owl:Class MONDO:0400002 biolink:NamedThing calcium-alkali syndrome The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. tmpak2llvmy_mondo_relaxed.owl milk-alkali syndrome owl:Class HP:0001096 biolink:NamedThing Keratoconjunctivitis Inflammation of the cornea and conjunctiva. tmpak2llvmy_mondo_relaxed.owl MSH:D007637|UMLS:C0022573|SNOMEDCT_US:88151007 human_phenotype owl:Class HP:0000491 biolink:NamedThing Keratitis Inflammation of the cornea. tmpak2llvmy_mondo_relaxed.owl Corneal inflammation SNOMEDCT_US:5888003|MSH:D007634|UMLS:C0022568 human_phenotype owl:Class MONDO:0017410 biolink:NamedThing porencephaly Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. tmpak2llvmy_mondo_relaxed.owl MESH:D065708|MedDRA:10036172|DOID:0060263|HP:0002132|Orphanet:2940|ICD10:Q04.6|GARD:0007430 https://rarediseases.info.nih.gov/diseases/7430/porencephaly owl:Class MONDO:0015655 biolink:NamedThing cerebral malformation with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:166478 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: cerebral malformation' MONDO_0016054 owl:Class UBERON:0004292 biolink:NamedThing cardiac skeleton Dense connective tissue that separates the atria from the ventricles and provides physical support for the heart. tmpak2llvmy_mondo_relaxed.owl fibrous skeleton of heart|anulus fibrosus sinister cordis|heart fibrous skeleton|trigona fibrosa|cardiac fibrous skeleton|skeleton of heart|trigonum fibrosum sinistrum cordis|trigonum fibrosum dextrum cordis|anulus fibrosus dexter cordis owl:Class UBERON:0003639 biolink:NamedThing manual digit 5 phalanx A phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl 5 th finger long bone of digit|5 th digit of hand long bone of digit|hand digit 5 phalanx|hand digit 5 digit long bone|5 th digit of hand digit long bone|fifth finger long bone of digit|digit long bone of hand digit 5|phalanx of little finger|manual digit V phalanx|fifth finger digit long bone|phalanx of 5 th digit of hand|little finger phalanx|fifth finger phalanx|5 th finger phalanx|digit long bone of fifth finger|5 th finger digit long bone|long bone of digit of 5 th finger|phalanx of 5th finger|hand digit 5 long bone of digit|phalanx of hand digit 5|long bone of digit of 5 th digit of hand|long bone of digit of fifth finger|phalanx of fifth digit of hand|phalanx of fifth finger|digit long bone of 5 th digit of hand|phalanx of manual digitus minimus|fore limb digit 5 phalanx|digit long bone of 5 th finger|5 th digit of hand phalanx|long bone of digit of hand digit 5|phalanx of 5 th finger owl:Class MONDO:0004932 biolink:NamedThing null-cell leukemia tmpak2llvmy_mondo_relaxed.owl null cell acute lymphoblastic leukemia SCTID:277574007|UMLS:C0023483|DOID:9954 owl:Class MONDO:0014939 biolink:NamedThing congenital myasthenic syndrome 20 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome type 20|CMS20|SLC5A7 congenital myasthenic syndrome|myasthenic syndrome, congenital, 20, presynaptic|congenital myasthenic syndrome caused by mutation in SLC5A7|congenital myasthenic syndrome 20 presynaptic UMLS:C4310694|DOID:0110661|OMIM:617143 owl:Class ECTO:4000035 biolink:NamedThing exposure to increased water pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of water. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in pressure of water owl:Class UBERON:0005660 biolink:NamedThing 2nd arch ectoderm An ectoderm that is part of a pharyngeal arch 2. tmpak2llvmy_mondo_relaxed.owl 2nd pharyngeal arch ectoderm owl:Class UBERON:0010344 biolink:NamedThing 3rd arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 3rd arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl branchial arch 3 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 3rd arch|pharyngeal arch 3 mesenchyme from head mesenchyme|head mesenchyme derived arch 3 mesenchyme owl:Class MONDO:0004595 biolink:NamedThing acute pulmonary heart disease tmpak2llvmy_mondo_relaxed.owl UMLS:C0155671|ICD9:415|DOID:8514|SCTID:67189007 owl:Class MONDO:0100318 biolink:NamedThing SARS-CoV-2-related disease A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease. tmpak2llvmy_mondo_relaxed.owl COVID-19-related disease http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008584 biolink:NamedThing torus palatinus and torus mandibularis tmpak2llvmy_mondo_relaxed.owl torus palatinus and torus mandibularis MESH:C566043|UMLS:C1861044|OMIM:189700 owl:Class MONDO:0018980 biolink:NamedThing acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. tmpak2llvmy_mondo_relaxed.owl Kennedy-Teebi syndrome UMLS:CN205418|ICD10:Q75.4|Orphanet:64542|SCTID:720427009 owl:Class MONDO:0017017 biolink:NamedThing primary interstitial lung disease specific to childhood due to alveolar vascular disorder tmpak2llvmy_mondo_relaxed.owl primary ILD specific to childhood due to alveolar vascular disorder 2022-03-01 Orphanet:264683|UMLS:CN202329 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0019856 biolink:NamedThing primary congenital hypothyroidism without thyroid developmental anomaly Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:E03.1|ICD10:E03.0|Orphanet:95714 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary congenital hypothyroidism' MONDO_0016409 owl:Class MONDO:0017076 biolink:NamedThing posterior meningocele Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. tmpak2llvmy_mondo_relaxed.owl ICD10:Q05.6|ICD10:Q05.9|ICD10:Q05.3|ICD10:Q05.8|ICD10:Q05.7|Orphanet:268810|ICD10:Q05.1|ICD10:Q05.2|UMLS:CN202439|ICD10:Q05.4 owl:Class MONDO:0017069 biolink:NamedThing spina bifida cystica A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. tmpak2llvmy_mondo_relaxed.owl spina bifida, open|myelomeningocele|open spina bifida|spina bifida manifesta|meningomyelocele|spina bifida aperta ICD10:Q05.0|MedDRA:10071011|ICD10:Q05.6|MESH:D016137|ICD10:Q05.9|ICD10:Q05.5|ICD10:Q05.3|ICD10:Q05.8|Orphanet:268744|ICD10:Q05.7|ICD10:Q05.1|NCIT:C101201|ICD10:Q05.2|ICD10:Q05.4 owl:Class UBERON:0011822 biolink:NamedThing dense irregular connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. tmpak2llvmy_mondo_relaxed.owl typus irregularis (textus connectivus collagenosus compactus)|irregular dense connective tissue owl:Class UBERON:0011821 biolink:NamedThing irregular connective tissue Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005290 biolink:NamedThing rhabdomyolysis A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. tmpak2llvmy_mondo_relaxed.owl rhabdomyolysis (disease)|rhabdomyolysis rhabdomyolysis (disease) ICD9:728.88|NCIT:C118318|MESH:D012206|HP:0003201|SCTID:240131006|EFO:0003867 owl:Class UBERON:0003550 biolink:NamedThing forebrain pia mater A pia mater that is part of a forebrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forebrain pia mater of neuraxis|pia mater of neuraxis of forebrain|pia mater of forebrain owl:Class MONDO:0018898 biolink:NamedThing primary cutaneous lymphoma Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities. tmpak2llvmy_mondo_relaxed.owl cutaneous (skin) lymphoma|primary skin lymphoma|primary cutaneous lymphoma MedDRA:10051708|Orphanet:542|SCTID:400001003|UMLS:C1302772|NCIT:C7162 owl:Class MONDO:0008512 biolink:NamedThing syndactyly type 1 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. tmpak2llvmy_mondo_relaxed.owl Sd1|craniosynostosis, Philadelphia type|Zygodactyly|syndactyly, type 1|SDTY1|chromosome 2q35 DUPLICATION syndrome SCTID:715723008|ICD10:Q70.3|OMIM:185900|UMLS:C1861380|ICD10:Q70.0|Orphanet:93402|ICD10:Q70.2|GARD:0005081|UMLS:C4275033|ICD10:Q70.1 owl:Class MONDO:0014706 biolink:NamedThing cutis laxa, autosomal dominant 3 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. tmpak2llvmy_mondo_relaxed.owl ADCL3|autosomal dominant cutis laxa 3|cutis laxa, autosomal dominant type 3|cutis laxa, autosomal dominant 3 OMIM:616603|DOID:0070131|UMLS:C4225268|ICD10:Q82.8 owl:Class GO:0051797 biolink:NamedThing regulation of hair follicle development Any process that modulates the frequency, rate or extent of hair follicle development. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042634 biolink:NamedThing regulation of hair cycle Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2529 biolink:NamedThing CTSD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012528 biolink:NamedThing hypogonadotropic hypogonadism 4 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. tmpak2llvmy_mondo_relaxed.owl Kallmann syndrome 4|HH4|hypogonadotropic hypogonadism 4 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROK2|KAL4|Kallman syndrome 4|PROK2 hypogonadotropic hypogonadism MESH:C565696|GARD:0010772|OMIM:610628|ICD10:E23.0|DOID:0090077|UMLS:C3552343 https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 owl:Class MONDO:0018800 biolink:NamedThing Kallmann syndrome Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism with anosmia|Olfacto-genital pathological sequence|hypogonadism with anosmia|Kallman's syndrome|congenital hypogonadotropic hypogonadism with anosmia|familial hypogonadism with anosmia|Kallman syndrome SCTID:93559003|MESH:D017436|NCIT:C75479|DOID:3614|MedDRA:10053142|UMLS:C0162809|ICD10:E23.0|GARD:0010771|Orphanet:478|ICD9:253.4 owl:Class MONDO:0043251 biolink:NamedThing odontoma A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported. tmpak2llvmy_mondo_relaxed.owl odontoma, benign|ameloblastic fibro-odontoma|fibro-odontoma|compound odontomas|compound odontoma|odontomas, compound|odontomas|fibroodontomas|ameloblastic fibro-odontomas|fibro-odontoma, ameloblastic|fibroodontoma|fibro odontoma|fibro odontoma, ameloblastic|fibro-odontomas|fibro-odontomas, ameloblastic|odontoma|odontoma, compound MESH:D009810|NCIT:C3287|GARD:0007247|ICDO:9280/0 owl:Class PR:000001785 biolink:NamedThing prominin tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000000001 biolink:NamedThing protein tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012050 biolink:NamedThing major depressive disorder 1 tmpak2llvmy_mondo_relaxed.owl MDD1|major depressive disorder type 1|major depressive disorder 1|unipolar depression 1 MESH:C563919|UMLS:C1837929|OMIM:608520 owl:Class MONDO:0002009 biolink:NamedThing major depressive disorder An episode of depression lasting two or more weeks without an intervening episode of mania. tmpak2llvmy_mondo_relaxed.owl unipolar depression|single major depressive episode|major depression|major depressive disorder|recurrent major depression DOID:1470|ICD10:F33.9|NCIT:C35094|ICD10:F32.9|MFOMD:0000143|ICD10:F33|OMIM:608516|ICD9:296.2|ICD10:F32|ICD9:296.3|ICD9:296.20|MESH:D003865|ICD9:296.30|SCTID:370143000|EFO:0003761 owl:Class MONDO:0017861 biolink:NamedThing ethylene glycol poisoning Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. tmpak2llvmy_mondo_relaxed.owl ICD9:982.8|ICD10:T52.8|Orphanet:31826|SCTID:426692001 owl:Class MONDO:0014308 biolink:NamedThing familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 6|ETL6|familial temporal lobe epilepsy type 6 UMLS:C3810320|DOID:0060749|OMIM:615697 Editor note: TODO owl:Class UBERON:0006238 biolink:NamedThing future brain The embryonic precursor of the brain. tmpak2llvmy_mondo_relaxed.owl brain rudiment|presumptive brain|encephalon|embryonic brain owl:Class MONDO:0004334 biolink:NamedThing non-functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. tmpak2llvmy_mondo_relaxed.owl non-functioning EPTs|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|nonfunctional pancreatic neuroendocrine tumor|nonsyndromic pancreatic neuroendocrine tumor|non-functioning PNET|non-functioning neuroendocrine tumor of pancreas|nonsyndromic pancreatic endocrine tumor|non-functioning well-differentiated NEN of pancreas|non-functioning pancreatic NET|non-functioning pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic NEN|non-functioning pancreatic endocrine tumor|non-syndromic pancreatic NET|non functioning pancreatic endocrine tumor|inactive pancreatic endocrine tumor|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning endocrine pancreatic tumors|non-functioning well differentiated pancreatic endocrine tumor|non-syndromic pancreatic neuroendocrine tumor|nonfunctional pancreatic NET EFO:1000398|MESH:C536126|DOID:7698|GARD:0004002|NCIT:C45837|UMLS:C1334977|ICDO:8150/3|Orphanet:506075 https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor owl:Class MONDO:0017255 biolink:NamedThing panuveitis A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. tmpak2llvmy_mondo_relaxed.owl total uveitis|diffuse uveitis|panuveitis|panuveitis (disease) panuveitis (disease) SCTID:75614007|ICD10:H44.11|MedDRA:10033687|HP:0012121|NCIT:C84989|GARD:0008577|ICD10:H44.1|ICD9:360.12|MESH:D015864|Orphanet:280898|EFO:1001082|DOID:12030 MONDO:0006885 owl:Class MONDO:0008453 biolink:NamedThing adult-onset proximal spinal muscular atrophy, autosomal dominant tmpak2llvmy_mondo_relaxed.owl autosomal dominant adult-onset proximal SMA|Finkel disease|spinal muscular atrophy, late-onset, FINKEL type|autosomal dominant adult-onset proximal spinal muscular atrophy|SMAFK|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, proximal, adult, autosomal dominant|Finkel late-adult type Sma DOID:0111194|OMIM:182980|Orphanet:209335|ICD10:G12.1|UMLS:CN200940 owl:Class MONDO:0016224 biolink:NamedThing autosomal dominant proximal spinal muscular atrophy Autosomal dominant form of proximal spinal muscular atrophy. tmpak2llvmy_mondo_relaxed.owl proximal spinal muscular atrophy, autosomal dominant Orphanet:211037|UMLS:CN229044|ICD10:G12.1 owl:Class MONDO:0018349 biolink:NamedThing MAN1B1-CDG MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type II due to MAN1B1 deficiency|MAN1B1-CDG|intellectual disability-truncal obesity syndrome|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency SCTID:733450008|UMLS:C4518783|Orphanet:397941|ICD10:E77.8|GARD:0012417 https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg owl:Class UBERON:0006574 biolink:NamedThing pectinate line The pectinate line (anocutaneous line, dentate line, anorectal junction) is a line which divides the upper 2/3rds and lower 1/3rd of the anal canal. Developmentally, this line represents the hindgut-proctodeum junction. It is an important anatomical landmark, and several distinctions can be made based upon the location of a structure relative to this line: tmpak2llvmy_mondo_relaxed.owl recto-anal junction|linea pectinata canalis analis|Hilton's 'white line'|pectinate line of anal canal|linea anocutanea|dentate line|site of anal membrane owl:Class UBERON:8410024 biolink:NamedThing intestinal junction An anatomical junction between two parts of the intestine. tmpak2llvmy_mondo_relaxed.owl junction of intestine owl:Class MONDO:0006301 biolink:NamedThing metanephric adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. tmpak2llvmy_mondo_relaxed.owl metanephric adenoma|metanephric adenoma (morphologic abnormality) DOID:6404|ICDO:8191/0|NCIT:C27253|EFO:1000373|ICDO:8325/0|UMLS:C1266045 owl:Class MONDO:0020137 biolink:NamedThing frontotemporal degeneration with dementia tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98535|ICD10:G31.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class GO:0031335 biolink:NamedThing regulation of sulfur amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpak2llvmy_mondo_relaxed.owl regulation of sulfur amino acid metabolism owl:Class MONDO:0011334 biolink:NamedThing limb-mammary syndrome Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. tmpak2llvmy_mondo_relaxed.owl mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|limb-mammary syndrome|LMS Orphanet:69085|GARD:0010051|MESH:C535903|OMIM:603543|SCTID:721972001 owl:Class HP:0003808 biolink:NamedThing Abnormal muscle tone tmpak2llvmy_mondo_relaxed.owl Abnormal muscle tone UMLS:C0852413 human_phenotype owl:Class MONDO:0012411 biolink:NamedThing giant axonal neuropathy 2 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. tmpak2llvmy_mondo_relaxed.owl HMSN2 with giant axons|GAN2|CMT2 with giant axons|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|giant axonal neuropathy caused by mutation in DCAF8|giant axonal neuropathy 2, autosomal dominant|giant axonal neuropathy type 2|DCAF8 giant axonal neuropathy OMIM:610100|UMLS:CN226146|GARD:0012447|UMLS:C1864695|Orphanet:401964|DOID:0090069|ICD10:G60.0 owl:Class UBERON:0011596 biolink:NamedThing future lower lip tmpak2llvmy_mondo_relaxed.owl lower jaw future lip owl:Class UBERON:0003236 biolink:NamedThing epithelium of lower jaw An epithelium that is part of a lower jaw [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower jaw epithelium|epithelial tissue of lower jaw|lower jaw epithelial tissue|ventral mandibular arch epithelial tissue|epithelium of ventral mandibular arch|epithelial tissue of ventral mandibular arch|ventral mandibular arch epithelium owl:Class GO:1904062 biolink:NamedThing regulation of cation transmembrane transport Any process that modulates the frequency, rate or extent of cation transmembrane transport. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019203 biolink:NamedThing acute interstitial pneumonia Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. tmpak2llvmy_mondo_relaxed.owl AIP|acute interstitial pneumonitis|Hamman-rich syndrome|accelerated interstitial pneumonia|idiopathic pulmonary fibrosis, acute fatal form|Hamman-rich disease GARD:0012835|NCIT:C35806|Orphanet:79126|ICD10:J84.1|SCTID:236302005|MedDRA:10066728|UMLS:C1279945|ICD10:J84.114|DOID:2800|ICD9:516.33 owl:Class MONDO:0002429 biolink:NamedThing idiopathic interstitial pneumonia A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). tmpak2llvmy_mondo_relaxed.owl diffuse idiopathic pulmonary fibrosis|IIp|idiopathic interstitial pneumonitis|idiopathic fibrosing alveolitis|noninfectious pneumonia|IPF NCIT:C35714|Orphanet:98300|ICD10:J84.114|UMLS:C2350236|ICD10:J84.11|ICD10:J84.112|DOID:2797|SCTID:700249006|MESH:D054988 owl:Class MONDO:0000889 biolink:NamedThing haemophilus meningitis Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. tmpak2llvmy_mondo_relaxed.owl Haemophilus influenzae bacterial meningitis|Haemophilus influenzae caused bacterial meningitis MONDO:0006775|ICD9:320.0|ICD10:G00.0|MedDRA:10018953|DOID:0080179|MESH:D008583|EFO:1000955|SCTID:5900006|SCTID:192643004 owl:Class MONDO:0006670 biolink:NamedThing bacterial meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. tmpak2llvmy_mondo_relaxed.owl meningitis, bacterial|Bacteria caused infectious meningitis|Bacteria infectious meningitis MedDRA:10004049|ICD10:G00.9|DOID:9470|NCIT:C118297|UMLS:C0085437|SCTID:95883001|ICD9:320|EFO:1000831|ICD9:320.7|ICD10:G00|GARD:0005881|ICD9:320.9|ICD9:320.89|MESH:D016920 https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis owl:Class MONDO:0006167 biolink:NamedThing combined lung carcinoma A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl combined carcinoma of lung|combined lung carcinoma|combined carcinoma of the lung|combined lung cancer EFO:1000200|NCIT:C7591|UMLS:C1333123 owl:Class MONDO:0017760 biolink:NamedThing disorder of other vitamins and cofactors metabolism and transport tmpak2llvmy_mondo_relaxed.owl Orphanet:309833|UMLS:CN227204 owl:Class MONDO:0005649 biolink:NamedThing appendicitis Acute inflammation of the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl acute appendicitis|acute appendicitis with peritoneal abscess|vermiform appendix inflammation|acute appendicitis with generalized peritonitis|inflammation of vermiform appendix EFO:0007149|SCTID:74400008|MESH:D001064|ICD9:541|ICD10:K37|NCIT:C35145|UMLS:C0003615|DOID:8337|ICD9:540-543.99 owl:Class MONDO:0002031 biolink:NamedThing cecal disease Pathological developments in the cecum. tmpak2llvmy_mondo_relaxed.owl disorder of caecum|disease of caecum|caecum disease or disorder|caecum disease|disease or disorder of caecum MESH:D002429|UMLS:C0007527|DOID:1518|SCTID:128525008 owl:Class MONDO:0011890 biolink:NamedThing Charcot-Marie-Tooth disease type 1D A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. tmpak2llvmy_mondo_relaxed.owl CMT 1D|HMSN ID|HMSN 1D|Charcot-Marie-Tooth neuropathy type 1D|Charcot Marie Tooth disease type 1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|EGR2 Charcot-Marie-Tooth disease type 1|CMT1D|Charcot-Marie-Tooth disease, demyelinating, type 1D|Charcot-Marie-Tooth neuropathy, type 1D|hereditary motor and sensory neuropathy 1D|HMSN1D ICD10:G60.0|SCTID:719979008|GARD:0009189|Orphanet:101084|DOID:0110150|OMIM:607678|MESH:C537985|UMLS:C1843247 https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d owl:Class MONDO:0019011 biolink:NamedThing Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 1|CMT1|Charcot-Marie-Tooth type 1|hereditary motor and sensory neuropathy type 1|autosomal dominant demyelinating Charcot-Marie-Tooth disease GARD:0012433|SCTID:398040009|ICD10:G60.0|Orphanet:65753|DOID:0050538 owl:Class MONDO:0037937 biolink:NamedThing pyrimidine metabolism disease A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of pyrimidine nucleobase metabolic process|disorder of pyrimidine metabolism|pyrimidine nucleobase metabolic process disease UMLS:C0268127|SCTID:85444005 owl:Class MONDO:0044738 biolink:NamedThing Gabriele de Vries syndrome tmpak2llvmy_mondo_relaxed.owl Gabriele-de Vries syndrome|GADEVS|Gabriele-De Vries syndrome|YY1 haploinsufficiency syndrome OMIM:617557|Orphanet:506358|UMLS:C4479652 owl:Class CL:1000331 biolink:NamedThing serous cell of epithelium of bronchus A serous secreting cell that is part of the epithelium of bronchus. tmpak2llvmy_mondo_relaxed.owl FMA:263080 cell owl:Class CL:0000313 biolink:NamedThing serous secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. tmpak2llvmy_mondo_relaxed.owl serous cell BTO:0003687|FMA:62511 cell owl:Class MONDO:0011121 biolink:NamedThing paragangliomas 2 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. tmpak2llvmy_mondo_relaxed.owl paraganglioma caused by mutation in SDHAF2|paragangliomas 2|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|PGL2|paragangliomas type 2|SDHAF2 paraganglioma|glomus tumors, familial, 2 GARD:0010544|MESH:C566646|OMIM:601650 https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 owl:Class MONDO:0006295 biolink:NamedThing malignant urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of renal system|renal system cancer|cancer of renal system|urinary system cancer|malignant renal system neoplasm|malignant urinary system neoplasm|malignant urinary tract neoplasm ICD9:189.9|DOID:3996|ICD10:C68.9|NCIT:C9297|EFO:1000363|SCTID:448233000|ICD10:C64.C68 owl:Class UBERON:0004813 biolink:NamedThing seminiferous tubule epithelium the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule tmpak2llvmy_mondo_relaxed.owl epithelium of seminiferous tubule of testis|wall of seminiferous tubule|epithelial tissue of seminiferous tubule of testis|male germinal epithelium|epithelial tissue of seminiferous tubule|germinal epithelium (male)|testis germinal epithelium|epithelium of seminiferous tubule|seminiferous epithelium|seminiferous tubule epithelial tissue owl:Class MONDO:0008041 biolink:NamedThing myoclonic epilepsy, Hartung type tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy, Hartung type OMIM:159600|MESH:C563550|UMLS:C1834581 owl:Class MONDO:0016022 biolink:NamedThing early myoclonic encephalopathy Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. tmpak2llvmy_mondo_relaxed.owl early myoclonic encephalopathy|myoclonic seizure disorder|myoclonic seizure|myoclonic epilepsy|myoclonia epileptica|myoclonus epilepsy|eme|epileptic seizures - myoclonic|epileptic seizures, myoclonic|early myoclonic encephalopathy with suppression-bursts DOID:308|ICD10:G40.4|EFO:1001900|GARD:0007142|SCTID:44423001|NCIT:C116593|UMLS:C0014550|UMLS:C0270855|Orphanet:1935 owl:Class MONDO:0011008 biolink:NamedThing cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. tmpak2llvmy_mondo_relaxed.owl cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson Clemens syndrome|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson-Clemens syndrome ICD10:Q87.8|OMIM:601165|MESH:C538160|GARD:0003430|SCTID:719456001|UMLS:C2931750|Orphanet:2001 owl:Class MONDO:0013656 biolink:NamedThing intellectual disability, autosomal dominant 9 An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. tmpak2llvmy_mondo_relaxed.owl MRD9|mental retardation, autosomal dominant type 9|mental retardation, autosomal dominant 9|autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|intellectual disability, autosomal dominant type 9|autosomal dominant non-syndromic intellectual disability 9|autosomal dominant intellectual disability 9|autosomal dominant mental retardation 9|KIF1A autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 9 DOID:0070039|OMIM:614255|NCIT:C133742|UMLS:C3280283 owl:Class MONDO:0018449 biolink:NamedThing acquired cystic disease-associated renal cell carcinoma Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. tmpak2llvmy_mondo_relaxed.owl Orphanet:404514|ICD10:C64|UMLS:CN226194 owl:Class MONDO:0005086 biolink:NamedThing renal cell carcinoma A carcinoma that arises from glandular epithelial cells of the kidney tmpak2llvmy_mondo_relaxed.owl renal cell adenocarcinoma|hypernephroma|kidney adenocarcinoma|RCC|renal cell carcinoma (disease)|renal cell carcinoma renal cell carcinoma (disease) MESH:D002292|GARD:0013215|HP:0005584|DOID:4450|EFO:0000681|MedDRA:10067946|SCTID:702391001|Orphanet:217071|ONCOTREE:RCC|ICD9:189.0 owl:Class UBERON:0001213 biolink:NamedThing intestinal villus the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold tmpak2llvmy_mondo_relaxed.owl enteric villus|enteric villous|small intestine villus|enteric villi|villi intestinales|villus intestinalis (intestinum tenue)|intestinal villus layer|intestinal villi|villus owl:Class UBERON:0002528 biolink:NamedThing sacral lymph node A lymph node located in the sacral region. tmpak2llvmy_mondo_relaxed.owl sacral node owl:Class MONDO:0003409 biolink:NamedThing colonic disease Pathological processes in the colon region of the large intestine (intestine, large). tmpak2llvmy_mondo_relaxed.owl disorder of colon|disease of colon|colon disease|colon disorder|disease or disorder of colon|colon disease or disorder DOID:5353|UMLS:C0009373|SCTID:128524007|MESH:D003108 owl:Class MONDO:0002940 biolink:NamedThing anal margin basal cell carcinoma A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare. tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma of perianal skin|perianal skin skin basal cell carcinoma|anal margin basal cell carcinoma|perianal skin basal cell carcinoma|basal cell carcinoma of anal margin|basal cell carcinoma of the anal margin|skin basal cell carcinoma of perianal skin|basal cell carcinoma of the perianal skin ICD10:C44.510|UMLS:C1332269|NCIT:C7473|DOID:4283 owl:Class MONDO:0009369 biolink:NamedThing non-immune hydrops fetalis Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. tmpak2llvmy_mondo_relaxed.owl hydrops fetalis, nonimmune|NIHF|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related|non-immune fetal edema|non-immune fetal hydrops|non-immune HF SCTID:276509008|OMIM:236750|ICD10:P56.9|ICD9:778.0|Orphanet:363999|EFO:0009051|UMLS:C0455988|ICD10:P83.2|NCIT:C111905 owl:Class MONDO:0015193 biolink:NamedThing hydrops fetalis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). tmpak2llvmy_mondo_relaxed.owl fetal edema|hydrops fetalis (disease)|generalized fetal edema|fetal hydrops|hydrops fetalis nonimmune|familial non-immune hydrops fetalis|fetal anasarca|HF|idiopathic hydrops fetalis|hydrops fetalis hydrops fetalis (disease) ICD10:P56.0|SCTID:276508000|Orphanet:1041|ICD10:P56.9|MedDRA:10020529|GARD:0002301|NCIT:C84767|HP:0001789|GARD:0002783|ICD10:P83.2|UMLS:C0020305 owl:Class MONDO:0016120 biolink:NamedThing myotonic syndrome tmpak2llvmy_mondo_relaxed.owl MedDRA:10028658|MESH:D020967|Orphanet:206970|ICD10:G71.1 owl:Class GO:0048762 biolink:NamedThing mesenchymal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000117 biolink:NamedThing 23-year-old human stage Young adult stage that refers to an adult who is over 23 and under 24. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000624 biolink:NamedThing hydrological condensation process Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase. tmpak2llvmy_mondo_relaxed.owl condensation owl:Class ENVO:02500031 biolink:NamedThing hydrological process An environmental process which has water - in any of its states - as a participant. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004113 biolink:NamedThing muscle of auditory ossicle A muscle of the tympanic cavity that attaches to an auditory ossicle. tmpak2llvmy_mondo_relaxed.owl auditory ossicles muscle|ossicular muscle|muscle of tympanic cavity|tympanic cavity muscle|muscle of auditory ossicles|muscle of middle ear owl:Class UBERON:0001630 biolink:NamedThing muscle organ Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. tmpak2llvmy_mondo_relaxed.owl muscle owl:Class MONDO:0018368 biolink:NamedThing primary peritoneal serous/papillary carcinoma tmpak2llvmy_mondo_relaxed.owl primary peritoneal serous papillary adenocarcinoma|PPSPC|primary peritoneal serous papillary carcinoma|peritoneal serous papillary adenocarcinoma|primary serous papillary carcinoma of peritoneum Orphanet:398980|ICD10:C48.1|ICD10:C48.2|DOID:6228|UMLS:C1368918|ICD10:C48.0|ICD10:C48.8|UMLS:CN205035|NCIT:C7695 owl:Class MONDO:0032828 biolink:NamedThing spastic tetraplegia and axial hypotonia, progressive tmpak2llvmy_mondo_relaxed.owl Sod1 Deficiency, Autosomal Recessive|STAHP|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE OMIM:618598 owl:Class GO:0032388 biolink:NamedThing positive regulation of intracellular transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. tmpak2llvmy_mondo_relaxed.owl upregulation of intracellular transport|stimulation of intracellular transport|up-regulation of intracellular transport|up regulation of intracellular transport|activation of intracellular transport owl:Class GO:0051050 biolink:NamedThing positive regulation of transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl up-regulation of transport|up regulation of transport|upregulation of transport|activation of transport|stimulation of transport owl:Class GO:0002785 biolink:NamedThing negative regulation of antimicrobial peptide production Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. tmpak2llvmy_mondo_relaxed.owl down-regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|down regulation of antimicrobial peptide production|downregulation of antimicrobial peptide production owl:Class GO:0002784 biolink:NamedThing regulation of antimicrobial peptide production Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008715 biolink:NamedThing acrofrontofacionasal dysostosis A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. tmpak2llvmy_mondo_relaxed.owl AFFN dysostosis|acrofrontofacionasal dysostosis 1|Affn dysostosis 1|acro fronto facio nasal dysostosis|acrofrontofacionasal dysostosis syndrome|Richieri-Costa-Colletto syndrome|cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|acrofrontofacionasal dysostosis type 1|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate SCTID:720408003|ICD10:Q75.1|GARD:0000484|Orphanet:1784|DOID:0060226|UMLS:C1860118 owl:Class MONDO:0006385 biolink:NamedThing primary intraosseous squamous cell carcinoma A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor. tmpak2llvmy_mondo_relaxed.owl PIOSCC NCIT:C54295|UMLS:C1709663|EFO:1000492 owl:Class GO:0090317 biolink:NamedThing negative regulation of intracellular protein transport Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044649 biolink:NamedThing omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome tmpak2llvmy_mondo_relaxed.owl Gershoni-Baruch syndrome Orphanet:496693 owl:Class GO:1902018 biolink:NamedThing negative regulation of cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. tmpak2llvmy_mondo_relaxed.owl down regulation of ciliogenesis|down-regulation of ciliogenesis|downregulation of cilium assembly|down-regulation of cilium biogenesis|negative regulation of ciliogenesis|inhibition of cilium biogenesis|down-regulation of cilium assembly|downregulation of cilium biogenesis|down regulation of cilium biogenesis|inhibition of cilium assembly|negative regulation of cilium biogenesis|downregulation of ciliogenesis|inhibition of ciliogenesis|down regulation of cilium assembly owl:Class CHEBI:22562 biolink:NamedThing anilines Any aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903037 biolink:NamedThing regulation of leukocyte cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. tmpak2llvmy_mondo_relaxed.owl regulation of leukocyte adhesion|regulation of leukocyte cell adhesion owl:Class MONDO:0006553 biolink:NamedThing Fox-Fordyce disease Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. tmpak2llvmy_mondo_relaxed.owl apocrine miliaria|miliaria, apocrine|Fox-Fordyce syndrome|Fox Fordyce disease|Fox-Fordyce disease GARD:0006462|NCIT:C84716|ICD10:L75.2|UMLS:C0016632|DOID:1381|ICD9:705.82|Wikipedia:Fox-Fordyce_disease|SCTID:65038009|MESH:D005588|EFO:1000703 https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease owl:Class MONDO:0006615 biolink:NamedThing sweat gland disease A disease involving the sweat gland. tmpak2llvmy_mondo_relaxed.owl sweat gland disease or disorder|disease of sweat glands|sweat gland disease|disease of sweat gland|disease or disorder of sweat gland|disorder of sweat gland|disorder of sweat glands SCTID:88232005|ICD10:L74.9|MESH:D013543|ICD9:705|ICD9:705.89|ICD9:705.9|EFO:1000772|DOID:1383|UMLS:C0038986|ICD10:L74 owl:Class UBERON:0003353 biolink:NamedThing epithelium of hindgut An epithelium that is part of a hindgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindgut epithelium|hindgut epithelial tissue|epithelial tissue of hindgut owl:Class MONDO:0012887 biolink:NamedThing inflammatory bowel disease 23 An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 23|inflammatory bowel disease type 23|IBD23 DOID:0110884|UMLS:C2676484|MESH:C567326|OMIM:612381 owl:Class MONDO:0009231 biolink:NamedThing fibular hypoplasia and complex brachydactyly tmpak2llvmy_mondo_relaxed.owl fibular hypoplasia and complex brachydactyly|fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome UMLS:C1856738|OMIM:228900|ICD10:Q73.8|GARD:0009879|KEGG:H00467|DOID:0050790|Orphanet:2639|SCTID:715474004|MESH:C537931 https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly owl:Class GO:0006744 biolink:NamedThing ubiquinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpak2llvmy_mondo_relaxed.owl ubiquinone synthesis|ubiquinone anabolism|coenzyme Q6 biosynthesis|ubiquinone formation|coenzyme Q8 biosynthetic process|ubiquinone biosynthesis|coenzyme Q10 biosynthetic process|coenzyme Q10 biosynthesis|coenzyme Q biosynthetic process|coenzyme Q8 biosynthesis|coenzyme Q9 biosynthesis|coenzyme Q biosynthesis|coenzyme Q6 biosynthetic process|coenzyme Q9 biosynthetic process owl:Class GO:0006743 biolink:NamedThing ubiquinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpak2llvmy_mondo_relaxed.owl coenzyme Q metabolic process|ubiquinone metabolism|coenzyme Q metabolism owl:Class MONDO:0002162 biolink:NamedThing fallopian tube adenosarcoma An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. tmpak2llvmy_mondo_relaxed.owl fallopian tube Mullerian adenosarcoma|fallopian tube mullerian adenosarcoma|fallopian tube Müllerian adenosarcoma|adenosarcoma of fallopian tube|fallopian tube adenosarcoma DOID:1973|UMLS:C1517121|NCIT:C40125 owl:Class MONDO:0005636 biolink:NamedThing adenosarcoma A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. tmpak2llvmy_mondo_relaxed.owl Mullerian adenosarcoma|Müllerian adenosarcoma|mullerian adenosarcoma|adenosarcoma (morphologic abnormality)|adenosarcoma DOID:1974|UMLS:C0001442|EFO:0007134|MESH:D018195|NCIT:C9474|ICDO:8933/3 owl:Class CHEBI:60027 biolink:NamedThing polymer A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. tmpak2llvmy_mondo_relaxed.owl Kunststoff|Polymer owl:Class CHEBI:60004 biolink:NamedThing mixture A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. tmpak2llvmy_mondo_relaxed.owl Mischung owl:Class MONDO:0021296 biolink:NamedThing carcinoma in situ of renal pelvis A in situ carcinoma that involves the renal pelvis. tmpak2llvmy_mondo_relaxed.owl stage 0is kidney pelvis carcinoma|carcinoma in situ of the renal pelvis|kidney pelvis carcinoma in situ|carcinoma in situ of renal pelvis|stage 0is renal pelvis urothelial carcinoma|stage 0 renal pelvis carcinoma|renal pelvis carcinoma in situ|stage 0is renal pelvis cancer aJCC v7|stage 0is kidney renal pelvis urothelial cancer|stage 0is carcinoma of renal pelvis|stage 0is carcinoma of kidney pelvis|stage 0is carcinoma of the kidney pelvis|carcinoma in situ of the kidney pelvis|stage 0is renal pelvis cancer|carcinoma in situ of kidney pelvis|stage 0is carcinoma of the renal pelvis|stage 0is renal pelvis urothelial carcinoma aJCC v7|renal pelvis in situ carcinoma SCTID:92697000|NCIT:C4597|ICD9:233.9|UMLS:C0347184 owl:Class MONDO:0005519 biolink:NamedThing renal pelvis carcinoma A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl renal pelvis cancer|kidney renal pelvis cancer|cancer of renal pelvis|carcinoma of the kidney pelvis|malignant renal pelvis neoplasm|renal pelvis carcinoma|carcinoma of renal pelvis|malignant neoplasm of renal pelvis|kidney pelvis carcinoma|carcinoma of the renal pelvis|carcinoma of kidney pelvis UMLS:C0153618|ICD10:C65|UMLS:C1335749|DOID:4919|EFO:0005582|ICD9:189.1|NCIT:C6142|SCTID:363457009 owl:Class MONDO:0024303 biolink:NamedThing external hirudiniasis The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. tmpak2llvmy_mondo_relaxed.owl SCTID:1086871000119109|ICD10:B88.3|UMLS:C0392037 owl:Class MONDO:0001191 biolink:NamedThing hirudiniasis An disease or disorder caused by infection with Hirudinea. tmpak2llvmy_mondo_relaxed.owl leeches|Hirudinea caused disease or disorder|Hirudinea disease or disorder|Hirudinea infectious disease ICD9:134.2|DOID:11079|UMLS:C0019575|ICD10:B88.3|SCTID:64351000 owl:Class MONDO:0033548 biolink:NamedThing myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl MYODRIF|Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES OMIM:618975 owl:Class UBERON:0016852 biolink:NamedThing skin scent gland A scent gland that is part of the skin tmpak2llvmy_mondo_relaxed.owl cutaneous scent gland owl:Class HGNC:26624 biolink:NamedThing KDF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005609 biolink:NamedThing herpes zoster A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. tmpak2llvmy_mondo_relaxed.owl Zoster|shingles|herpes zona|postherpetic neuralgia|herpes Zoster NCIT:C71079|SCTID:4740000|ICD9:053|EFO:0006510|MESH:D006562|DOID:8536|ICD10:B02|UMLS:C0019360|ICD10:B02.9 owl:Class MONDO:0021674 biolink:NamedThing post-viral disorder A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations. tmpak2llvmy_mondo_relaxed.owl sequela of viral disease SCTID:123948009|ICD9:139.8 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0015262 biolink:NamedThing brachyolmia Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. tmpak2llvmy_mondo_relaxed.owl brachyrachia UMLS:C0432228|Orphanet:1293|ICD10:Q76.3|MESH:C537098|ICD9:756.19|GARD:0010903|DOID:0050690|SCTID:254088006 owl:Class MONDO:0019694 biolink:NamedThing spondylodysplastic dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93434 owl:Class UBERON:0001743 biolink:NamedThing ligament of larynx A ligament that is part of a larynx and connexts the cartilages of the larynx tmpak2llvmy_mondo_relaxed.owl laryngeal ligament|larynx ligament owl:Class UBERON:0008845 biolink:NamedThing nonskeletal ligament A ligament that does not connect two skeletal elements. tmpak2llvmy_mondo_relaxed.owl fibrous ligament|non-skeletal ligament owl:Class PR:000001012 biolink:NamedThing integrin alpha-M tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001005 biolink:NamedThing integrin alpha with A domain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012345 biolink:NamedThing acral peeling skin syndrome Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. tmpak2llvmy_mondo_relaxed.owl acral deciduous skin|peeling skin syndrome, acral type|localized deciduous skin|PSS2|acral peeling skin syndrome|acral PSS|peeling skin syndrome type 2|localized PSS|peeling skin syndrome 2 ICD10:Q80.8|UMLS:C1853354|SCTID:709416009|MESH:C536316|OMIM:609796|Orphanet:263534|GARD:0012863 https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome owl:Class GO:1901292 biolink:NamedThing nucleoside phosphate catabolic process The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate. tmpak2llvmy_mondo_relaxed.owl nucleoside phosphate degradation|nucleoside phosphate breakdown|nucleoside phosphate catabolism owl:Class GO:0046434 biolink:NamedThing organophosphate catabolic process The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound. tmpak2llvmy_mondo_relaxed.owl organophosphate catabolism|organophosphate breakdown|organophosphate degradation owl:Class GO:0051248 biolink:NamedThing negative regulation of protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein metabolism|inhibition of protein metabolic process|down regulation of protein metabolic process|downregulation of protein metabolic process|down-regulation of protein metabolic process owl:Class HGNC:15626 biolink:NamedThing FCGR2C tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2719 biolink:NamedThing DDC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000331 biolink:NamedThing Rickettsia helvetica spotted fever A disease caused by infection with Rickettsia helvetica. tmpak2llvmy_mondo_relaxed.owl Rickettsia helvetica infectious disease|Rickettsia helvetica aneruptive fever|Rickettsia helvetica disease or disorder|aneruptive fever|Rickettsia helvetica caused disease or disorder DOID:0050484 owl:Class MONDO:0024463 biolink:NamedThing ovarian dysgenesis 1 tmpak2llvmy_mondo_relaxed.owl XX gonadal dysgenesis|ovarian dysgenesis 1|ovarian failure, hypergonadotropic|ovarian dysgenesis, hypergonadotropic, autosomal recessive|XXGD|gonadal dysgenesis, XX type|gonadal dysgenesis, 20 type|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ODG1 OMIM:233300|DOID:0080493 owl:Class MONDO:0002033 biolink:NamedThing cecum cancer A malignant neoplasm involving the caecum tmpak2llvmy_mondo_relaxed.owl malignant tumor of the cecum|malignant caecum neoplasm|malignant cecum neoplasm|malignant neoplasm of the cecum|malignant tumor of cecum|caecum cancer|malignant neoplasm of cecum|malignant cecum tumor|cancer of caecum|malignant neoplasm of caecum ICD9:153.4|ICD10:C18.0|UMLS:C0153437|NCIT:C9329|DOID:1521 owl:Class MONDO:0005694 biolink:NamedThing cecal neoplasm A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl caecum neoplasm (disease)|neoplasm of the cecum|tumor of caecum|neoplasm of caecum|cecum neoplasm|neoplasm of cecum|caecum tumor|cecal benign neoplasm|tumor of the cecum|tumor of cecum|cecum tumor|caecum neoplasm UMLS:C0007528|SCTID:126839008|EFO:0007197|MESH:D002430|DOID:1517|NCIT:C4433 owl:Class HP:0011354 biolink:NamedThing Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. tmpak2llvmy_mondo_relaxed.owl Generalised abnormality of skin|Generalized abnormality of skin UMLS:C4021157 peter 2012-03-01T01:55:07Z human_phenotype owl:Class HP:0011121 biolink:NamedThing Abnormality of skin morphology Any morphological abnormality of the skin. tmpak2llvmy_mondo_relaxed.owl Abnormal skin structure|Abnormal skin morphology UMLS:C4023528|Fyler:4133 peter 2011-06-12T10:03:23Z human_phenotype owl:Class MONDO:0010937 biolink:NamedThing isoproterenol-mediated vasodilatation tmpak2llvmy_mondo_relaxed.owl isoproterenol-mediated vasodilatation OMIM:600801|UMLS:C1833276 owl:Class HGNC:9477 biolink:NamedThing PRSS12 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0040069 biolink:NamedThing Abnormal lower limb bone morphology tmpak2llvmy_mondo_relaxed.owl Abnormal shape of bones of the lower limbs|Abnormal morphology of bones of the lower limbs|Abnormality of lower limb bone UMLS:C4022455|UMLS:C4022457 HPO:skoehler HP:0040066 human_phenotype owl:Class GO:1902262 biolink:NamedThing apoptotic process involved in blood vessel morphogenesis Any apoptotic process that is involved in blood vessel morphogenesis. tmpak2llvmy_mondo_relaxed.owl apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptosis involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels owl:Class MONDO:0001977 biolink:NamedThing ureteral lymphoma A lymphoma that involves the ureter. tmpak2llvmy_mondo_relaxed.owl ureteral lymphoma|ureter lymphoma|primary ureter lymphoma|lymphoma of the ureter|lymphoma of ureter UMLS:C1336876|NCIT:C6175|DOID:14489 owl:Class UBERON:0005199 biolink:NamedThing cervical mammary gland A mammary gland that is part of a cervical region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012718 biolink:NamedThing hypotonia with lactic acidemia and hyperammonemia This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22|combined oxidative phosphorylation deficiency type 5|COXPD5|combined oxidative phosphorylation defect type 5|MRPS22 combined oxidative phosphorylation deficiency DOID:0111473|Orphanet:137908|SCTID:724279004|UMLS:C2673642|MESH:C567126|ICD10:E88.8|UMLS:C4510567|OMIM:611719 owl:Class NCBITaxon:543769 biolink:NamedThing Rhizaria tmpak2llvmy_mondo_relaxed.owl PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2698737 biolink:NamedThing Sar tmpak2llvmy_mondo_relaxed.owl SAR supergroup GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006271 biolink:NamedThing orbital fissure Either of two openings transmitting nerves and blood vessels to or from the orbit. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032594 biolink:NamedThing protein transport within lipid bilayer The directed movement of a protein from one location to another within a lipid bilayer. tmpak2llvmy_mondo_relaxed.owl receptor transport within lipid bilayer|protein translocation within membrane|receptor translocation within membrane owl:Class GO:0006886 biolink:NamedThing intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. tmpak2llvmy_mondo_relaxed.owl copper-induced intracellular protein transport owl:Class MONDO:0010052 biolink:NamedThing spermatogenic failure 4 Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene. tmpak2llvmy_mondo_relaxed.owl pregnancy loss, recurrent, 4|pregnancy loss, recurrent, susceptibility to, 4|spermatogenic failure 4|spermatogenesis arrest|azoospermia with maturation arrest|azoospermia caused by mutation in SYCP3|arrest of spermatogenesis|azoospermia due to Perturbations of meiosis|spermatogenic failure type 4|SYCP3 azoospermia|SPGF4 DOID:0070176|OMIM:270960|GARD:0008530|MESH:C536875 owl:Class UBERON:0006321 biolink:NamedThing superior oblique extraocular muscle The superior oblique muscle, or obliquus oculi superior, is a fusiform muscle in the upper, medial side of the orbit whose primary action is downward, lateral rotation of the eye. One of the extraocular muscles, the superior oblique is the only muscle innervated by the trochlear nerve (the fourth cranial nerve). tmpak2llvmy_mondo_relaxed.owl dorsal oblique extraocular muscles|obliquus superior|M. obliquus superior|musculus obliquus superior|dorsal oblique extraocular muscle|obliquus oculi superior|musculus obliquus superior bulbi|superior oblique|superior oblique muscle owl:Class UBERON:0006532 biolink:NamedThing oblique extraocular muscle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005630 biolink:NamedThing actinobacillosis A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. tmpak2llvmy_mondo_relaxed.owl MESH:D000187|UMLS:C0001247|DOID:4974|EFO:0007127|SCTID:16140007 owl:Class MONDO:0000315 biolink:NamedThing commensal bacterial infectious disease A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. tmpak2llvmy_mondo_relaxed.owl opportunistic bacterial infectious disease DOID:0050339 Editor note: TODO owl:Class GO:0098869 biolink:NamedThing cellular oxidant detoxification Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1990748 biolink:NamedThing cellular detoxification Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010936 biolink:NamedThing Abnormality of the lower urinary tract An abnormality of the lower urinary tract. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023640 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. peter 2011-01-16T11:39:17Z human_phenotype owl:Class HP:0000079 biolink:NamedThing Abnormality of the urinary system An abnormality of the urinary system. tmpak2llvmy_mondo_relaxed.owl Urinary tract abnormalities|Urinary tract abnormality|Urinary tract anomalies UMLS:C4021821 human_phenotype owl:Class UBERON:0009559 biolink:NamedThing metacarpal/tarsal-phalangeal joint A skeletal joint that connects a mesopodium bone and connects a proximal phalanx. tmpak2llvmy_mondo_relaxed.owl metapodium-phalanx joint|metapodial-phalangeal joint|metacarpo-tarsophalangeal joint|fetlock owl:Class UBERON:0007689 biolink:NamedThing thyroid diverticulum endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. tmpak2llvmy_mondo_relaxed.owl saccus thyroideus|diverticulum thyroideum owl:Class MONDO:0007779 biolink:NamedThing autosomal dominant Opitz G/BBB syndrome Autosomal dominant form of Opitz G/BBB syndrome. tmpak2llvmy_mondo_relaxed.owl Opitz G/BBB syndrome, autosomal dominant|Opitz GBBB syndrome, type 2|hypertelorism with esophageal Abnormality and hypospadias|G syndrome|autosomal dominant Opitz syndrome|Opitz GBBB syndrome, type II|Opitz-Frias syndrome|GBBB syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|ADOS|GBBB2|Opitz Bbbg syndrome|hypospadias-dysphagia syndrome|telecanthus with associated abnormalities|Opitz oculogenitolaryngeal syndrome, type 2|telecanthus-hypospadias syndrome|Opitz-G syndrome, type 2|Opitz GBBB syndrome, autosomal dominant|autosomal dominant Opitz BBB/G syndrome|BBB syndrome|hypertelorism-hypospadias syndrome Orphanet:306588|ICD10:Q87.8|OMIM:145410 owl:Class MONDO:0017138 biolink:NamedThing Opitz G/BBB syndrome Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). tmpak2llvmy_mondo_relaxed.owl hypospadias-dysphagia, syndrome|hypertelorism hypospadias syndrome|hypertelorism-oesophageal abnormality-hypospadias syndrome|hypospadias-dysphagia syndrome|Opitz syndrome|Opitz G/BBB syndrome|GBBB syndrome|hypospadias-hypertelorism syndrome|telecanthus with associated abnormalities|Opitz-G syndrome, type 2|Opitz G syndrome|Opitz-GBBB syndrome|BBB syndrome|hypertelorism with esophageal abnormality and hypospadias|Opitz BBBG syndrome|Opitz-Frias syndrome|Opitz GBBB syndrome|G syndrome ICD10:Q87.8|ICD9:758.89|GARD:0000193|DOID:0050780|Orphanet:2745|OMIMPS:300000|NCIT:C125487|UMLS:CN202554|SCTID:81771002|KEGG:H00583 https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome owl:Class HGNC:6391 biolink:NamedThing KIF22 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022901 biolink:NamedThing Crohn disease of the esophagus An Crohn disease involving a pathogenic inflammatory response in the esophagus. tmpak2llvmy_mondo_relaxed.owl Crohn's disease of the esophagus GARD:0000203|UMLS:C0341116 owl:Class MONDO:0033555 biolink:NamedThing immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia tmpak2llvmy_mondo_relaxed.owl IMD73C|IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA OMIM:618987 owl:Class MONDO:0019216 biolink:NamedThing inborn disorder of amino acid absorption and transport tmpak2llvmy_mondo_relaxed.owl disorder of amino acid absorption and transport|disorder of amino acid transport ICD10:E72.0|UMLS:C0268641|ICD9:270.0|SCTID:16784003|Orphanet:79166 Editor note: consider changing to transport owl:Class MONDO:0003126 biolink:NamedThing breast hemangioma A capillary or cavernous hemangioma arising from the breast. tmpak2llvmy_mondo_relaxed.owl hemangioma of breast|breast hemangioma|angioma of breast|hemangioma of the breast|breast angioma|angioma of the breast UMLS:C0853715|DOID:476|NCIT:C5353 owl:Class PATO:0000402 biolink:NamedThing branched A branchiness quality inhering in a bearer by virtue of the bearer's having branches. tmpak2llvmy_mondo_relaxed.owl ramiform|ramified owl:Class PATO:0002009 biolink:NamedThing branchiness A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025511 biolink:NamedThing inherited neuroendocrine tumor An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic neuroendocrine tumor|hereditary neuroendocrine neoplasm Orphanet:271847|UMLS:CN202530 owl:Class MONDO:0004778 biolink:NamedThing epididymo-orchitis A disorder involving inflammation of the epididymis and testes. tmpak2llvmy_mondo_relaxed.owl SCTID:197983000|ICD10:N45|ICD10:N45.3|DOID:9401|UMLS:C0149881|ICD9:604.90|ICD9:604 owl:Class MONDO:0005293 biolink:NamedThing flatfoot An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. tmpak2llvmy_mondo_relaxed.owl flat Foot|fallen Arch NCIT:C34616|MESH:D005413|SCTID:53226007|EFO:0003874|ICD9:734 owl:Class GO:0002367 biolink:NamedThing cytokine production involved in immune response The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl cytokine secretion during immune response|cytokine biosynthetic process involved in immune response|cytokine secretion involved in immune response|cytokine production during immune response owl:Class MONDO:0000700 biolink:NamedThing familial hemiplegic migraine A migraine disorder characterized by individual and family history of aura that includes motor weakness. tmpak2llvmy_mondo_relaxed.owl hemiplegic migraine, familial|hereditary hemiplegic migraine|familial hemiplegic migraine|FHM|hemiplegic-ophthalmoplegic migraine DOID:0060178|SCTID:95656000|ICD10:G43.8|OMIMPS:141500|ICD9:346.8|GARD:0010975|NCIT:C117009 owl:Class MONDO:0018925 biolink:NamedThing familial or sporadic hemiplegic migraine Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). tmpak2llvmy_mondo_relaxed.owl familial or sporadic hemiplegic migraine|hemiplegic migraine Orphanet:569|ICD9:346.30|GARD:0010768|SCTID:59292006|ICD10:G43.1 https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine owl:Class MONDO:0004166 biolink:NamedThing hereditary fallopian tube carcinoma Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. tmpak2llvmy_mondo_relaxed.owl familiar fallopian tube carcinoma|familial fallopian tube carcinoma|hereditary fallopian tube carcinoma|hereditary fallopian tube cancer DOID:7266|NCIT:C40455|UMLS:C1512418 owl:Class MONDO:0600018 biolink:NamedThing acinar dysplasia caused by mutation in FGFR2 Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene. tmpak2llvmy_mondo_relaxed.owl FGFR2 acinar dysplasia|FGFR2 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0600016 biolink:NamedThing acinar dysplasia A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4. tmpak2llvmy_mondo_relaxed.owl AcDys http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0010565 biolink:NamedThing red color blindness Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. tmpak2llvmy_mondo_relaxed.owl red color blindness|CBP|red colorblindness|protan defect|colorblindness, partial, protan series|protanomaly|protanopia ICD10:H53.54|ICD9:368.51|SCTID:51445007|EFO:0005580|DOID:13910|OMIM:303900 owl:Class MONDO:0001703 biolink:NamedThing color vision disorder The absence of or defect in the perception of colors. tmpak2llvmy_mondo_relaxed.owl color vision deficiency|color-vision disease|colour vision deficiency|color blindness|color vision defects|colour blindness|blindness color ICD10:H53.50|UMLS:C0009398|SCTID:193683001|ICD10:H53.5|UMLS:CN207064|ICD9:368.59|ICD9:368.5|Orphanet:98658|DOID:13399|NCIT:C3891|UMLS:C0242225 owl:Class GO:0044706 biolink:NamedThing multi-multicellular organism process A multicellular organism process which involves another multicellular organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006858 biolink:NamedThing adrenal/interrenal gland This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] tmpak2llvmy_mondo_relaxed.owl adrenal - interrenal gland|adrenal gland - interrenal gland|adrenal gland/interrenal tissue|suprarenal gland - interrenal gland owl:Class MONDO:0016689 biolink:NamedThing gemistocytic astrocytoma A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl gemistocytic astrocytoma|Gemistocytoma|gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytic tumor UMLS:C0334581|NCIT:C4321|DOID:7005|ICD10:C71.9|ICDO:9411/3|Orphanet:251604 owl:Class MONDO:0016686 biolink:NamedThing diffuse astrocytoma A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified. tmpak2llvmy_mondo_relaxed.owl gemistocytic astrocytoma (histologic variant)|astrocytoma, diffuse, malignant|astrocytoma, diffuse|grade II astrocytic neoplasm|low-grade diffuse astrocytoma|diffuse astrocytoma|WHO grade II astrocytoma|fibrillary astrocytoma (histologic variant)|protoplasmic astrocytoma (histologic variant)|grade II astrocytic tumor|grade II astrocytoma GARD:0005907|NCIT:C7173|ONCOTREE:DASTR|UMLS:C0280785|ICD10:C71.9|Orphanet:251595 owl:Class ECTO:7000122 biolink:NamedThing exposure to sea water A exposure event involving the interaction of an exposure receptor to sea water. tmpak2llvmy_mondo_relaxed.owl sea water exposure owl:Class MONDO:8000017 biolink:NamedThing testicular regression syndrome A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. tmpak2llvmy_mondo_relaxed.owl ETRS|vanishing testes syndrome|embryonic testicular regression syndrome|vanishing testis syndrome|TRS UMLS:C0266427|MedDRA:10002641|ICD10:Q55.0|SCTID:53599007|Orphanet:983|ICD9:752.89 owl:Class UBERON:0003346 biolink:NamedThing mucosa of rectum A mucosa that is part of a rectum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rectal mucous membrane|mucous membrane of rectum|rectum organ mucosa|organ mucosa of rectum|mucosa of organ of rectum|rectum mucosa of organ|rectum mucosa|rectal mucosa|rectum mucous membrane owl:Class MONDO:0032661 biolink:NamedThing neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia tmpak2llvmy_mondo_relaxed.owl NEDIDHA|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA OMIM:618292 owl:Class GO:0016247 biolink:NamedThing channel regulator activity Bonds to and modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043479 biolink:NamedThing adenoviridae infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. tmpak2llvmy_mondo_relaxed.owl Adenoviridae caused disease or disorder|adenoviridae infectious disease|Adenoviridae infectious disease|adenovirus infections|infections, adenovirus|infections, Adenoviridae|Adenoviridae disease or disorder|infection, adenovirus|disease due to adenovirus|disease caused by adenovirus|infection, Adenoviridae|Adenoviridae infection|adenovirus infection MESH:D000257|UMLS:C0001486|NCIT:C115149|SCTID:25225006 Editor note: check adenovirus vs adenoviridae owl:Class MONDO:0019418 biolink:NamedThing X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl Orphanet:85319|UMLS:CN206173|ICD10:Q87.8 owl:Class MONDO:0003518 biolink:NamedThing mediastinum teratoma A teratoma that involves the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinum teratoma|teratoma of mediastinum UMLS:C1334682|NCIT:C6438|DOID:5568 owl:Class MONDO:0002601 biolink:NamedThing teratoma A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpak2llvmy_mondo_relaxed.owl teratoma SCTID:36591000119102|MESH:D013724|NCIT:C3403|ICDO:9080/1|ONCOTREE:TT|DOID:3307 owl:Class MONDO:0015196 biolink:NamedThing vein of Galen aneurysm Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. tmpak2llvmy_mondo_relaxed.owl Galen vein aneurysm|ectasia or varix of the vein of Galen|vein of Galen aneurysm malformation|VGAM|vein of Galen arteriovenous malformations|Galenic arteriovenous malformation UMLS:C0431420|Orphanet:1053|MESH:C536535|ICD10:Q28.2|SCTID:253194008|GARD:0005467 https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm owl:Class MONDO:0001256 biolink:NamedThing arteriovenous hemangioma/malformation A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. tmpak2llvmy_mondo_relaxed.owl cirsoid aneurysm|arteriovenous angioma|racemose angioma|racemose hemangioma (morphologic abnormality)|racemose aneurysm (morphologic abnormality)|arteriovenous malformation|arteriovenous hemangioma|racemose aneurysm|racemose hemangioma|arteriovenous hemangioma/malformation MESH:D001165|DOID:11294|CSP:0571-2717|UMLS:C0334533|NCIT:C2882|HP:0100026|ICD10:I77.0|SCTID:233982006|ICDO:9123/0 Editor note: NCIT conflates hemangioma and malformation owl:Class UBERON:0013720 biolink:NamedThing dartos muscle of labia majora A dartos muscle that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl dartos muliebris|dartos layer of labia owl:Class MONDO:0021459 biolink:NamedThing benign neoplasm of esophagus A benign neoplasm that involves the esophagus. tmpak2llvmy_mondo_relaxed.owl benign esophagus tumor|benign tumor of esophagus|benign esophageal neoplasm|benign esophageal tumor|esophagus benign neoplasm|benign tumor of the esophagus|benign esophagus neoplasm|benign neoplasm of the esophagus ICD10:D13.0|SCTID:92091003|NCIT:C3598|ICD9:211.0|UMLS:C0153942 owl:Class UBERON:0002546 biolink:NamedThing cranial placode Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. tmpak2llvmy_mondo_relaxed.owl ectodermal placode|ectodermal cranial placode|placode|cranial placodes owl:Class PATO:0001748 biolink:NamedThing invaginated A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001857 biolink:NamedThing concave A shape quality in a bearer by virtue of the bearer's curving inward. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000092 biolink:NamedThing hair follicular keratinocyte Any keratinocyte that is part of a hair follicle. tmpak2llvmy_mondo_relaxed.owl TermGenie 2015-03-31T21:07:02Z cell owl:Class CL:0002559 biolink:NamedThing hair follicle cell An animal cell that is part of a hair follicle. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-01T04:11:01Z cell owl:Class MONDO:0004211 biolink:NamedThing L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpak2llvmy_mondo_relaxed.owl L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor UMLS:C3274140|DOID:7402|NCIT:C27448|ICDO:8152/1 owl:Class MONDO:0013069 biolink:NamedThing autosomal recessive optic atrophy, OPA7 type tmpak2llvmy_mondo_relaxed.owl optic atrophy 7 with or without auditory neuropathy|OPA7 DOID:0111437|UMLS:C2751812|MESH:C567833|OMIM:612989|Orphanet:227976|ICD10:H47.2 owl:Class MONDO:0016799 biolink:NamedThing mitochondrial oxidative phosphorylation disorder with no known mechanism tmpak2llvmy_mondo_relaxed.owl OXPHOS disease with no known mechanism 2022-03-01 Orphanet:254822|UMLS:CN202054 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0014515 biolink:NamedThing macular dystrophy with central cone involvement tmpak2llvmy_mondo_relaxed.owl CCMD|macular dystrophy with central cone involvement OMIM:616170|UMLS:C4015371 owl:Class MONDO:0005150 biolink:NamedThing age-related macular degeneration Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpak2llvmy_mondo_relaxed.owl ARMD|age related maculopathy|age-related macular degeneration|macular degeneration, age-related|age related macular degeneration|age related Maculopathies|Senile macular degeneration|AMD|Senile macular retinal degeneration NIFSTD:birnlex_12812|ICD9:362.50|ICD10:H35.30|Orphanet:279|SCTID:267718000|EFO:0001365|NCIT:C84391|UMLS:C0242383|DOID:10871|OMIMPS:603075 owl:Class MONDO:0021761 biolink:NamedThing acral dysostosis dyserythropoiesis syndrome An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. tmpak2llvmy_mondo_relaxed.owl GARD:0000478 https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome owl:Class HGNC:16812 biolink:NamedThing COQ8A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007160 biolink:NamedThing inferior petrosal sinus The inferior petrosal sinus, within the human head, is an area beneath the brain, which allows blood veins to span the area, from the center of the head downward. It drains from the cavernous sinus (beneath the brain) to the sigmoid sinuses above the internal jugular vein. tmpak2llvmy_mondo_relaxed.owl sinus petrosal inferior owl:Class UBERON:0017635 biolink:NamedThing paired venous dural sinus tmpak2llvmy_mondo_relaxed.owl paired dural venous sinus owl:Class MONDO:0008647 biolink:NamedThing hypertrophic cardiomyopathy 1 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpak2llvmy_mondo_relaxed.owl asymmetric septal Hypertrophy|hypertrophic cardiomyopathy type 1|CMH1|MYH7 hypertrophic cardiomyopathy|hypertrophic subaortic stenosis, idiopathic|cardiomyopathy, familial hypertrophic, 1|Cmh|cardiomyopathy, familial hypertrophic 1|cardiomyopathy, familial hypertrophic, type 1|hypertrophic cardiomyopathy 1|hypertrophic cardiomyopathy caused by mutation in MYH7|ventricular Hypertrophy, hereditary DOID:0110307|OMIM:192600 owl:Class MONDO:0012174 biolink:NamedThing peripheral cone dystrophy tmpak2llvmy_mondo_relaxed.owl peripheral cone dystrophy MESH:C563813|UMLS:C1836946|OMIM:609021 owl:Class GO:0042326 biolink:NamedThing negative regulation of phosphorylation Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. tmpak2llvmy_mondo_relaxed.owl downregulation of phosphorylation|down-regulation of phosphorylation|inhibition of phosphorylation|down regulation of phosphorylation owl:Class GO:0045936 biolink:NamedThing negative regulation of phosphate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpak2llvmy_mondo_relaxed.owl down regulation of phosphate metabolic process|down-regulation of phosphate metabolic process|inhibition of phosphate metabolic process|downregulation of phosphate metabolic process|negative regulation of phosphate metabolism owl:Class MONDO:0017419 biolink:NamedThing non-syndromic amelia A congenital malformation characterized by the complete absence of all limbs. tmpak2llvmy_mondo_relaxed.owl nonsyndromic amelia|isolated amelia|amelia NCIT:C34370|MedDRA:10001926|HP:0009827|SCTID:62588002|Orphanet:294925|ICD10:Q73.0 owl:Class MONDO:0019713 biolink:NamedThing non-syndromic limb reduction defect tmpak2llvmy_mondo_relaxed.owl non-syndromic limb hypoplasia|nonsyndromic limb reduction defect|isolated limb reduction defect ICD10:Q73.0|ICD10:Q72.3|ICD10:Q72.9|Orphanet:93457|ICD10:Q72.2|ICD10:Q71.1|ICD10:Q72.0|ICD10:Q71.3|ICD10:Q72.8|ICD10:Q71.5|ICD10:Q71.6|ICD10:Q72.6|ICD10:Q73.8|ICD10:Q72.4|ICD10:Q71.9|ICD10:Q72.5|ICD10:Q72.7|ICD10:Q72.1|ICD10:Q71.8|ICD10:Q73.1|ICD10:Q71.2|ICD10:Q71.4|ICD10:Q71.0 owl:Class GO:0019222 biolink:NamedThing regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpak2llvmy_mondo_relaxed.owl regulation of metabolism|regulation of organismal metabolic process|regulation of multicellular organismal metabolic process owl:Class UBERON:0015165 biolink:NamedThing multi-unit eye An eye consisting of multiple light-sensing organs tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001337 biolink:NamedThing Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. tmpak2llvmy_mondo_relaxed.owl Tremor|Tremors UMLS:C0040822|SNOMEDCT_US:26079004|MSH:D014202 Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. HP:0001309|HP:0001295 human_phenotype owl:Class MONDO:0020211 biolink:NamedThing syndromic keratoconus A keratoconus (disease) that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with keratoconus (disease)|syndromic keratoconus (disease) UMLS:CN227821|Orphanet:98623 owl:Class MONDO:0015486 biolink:NamedThing keratoconus A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. tmpak2llvmy_mondo_relaxed.owl keratoconus (disease)|noninflammatory corneal thining|keratoconus|KC|conical cornea keratoconus (disease) UMLS:C0022578|ICD9:371.6|ICD9:371.60|MedDRA:10023353|Orphanet:156071|MESH:D007640|HP:0000563|DOID:10126|SCTID:65636009|GARD:0006824|ICD10:H18.60|ICD10:H18.6|OMIMPS:148300|NCIT:C26806 owl:Class UBERON:0001497 biolink:NamedThing muscle of pelvic girdle Any muscle organ that is part of a pelvic girdle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pelvic girdle skeletal muscle|pelvic girdle muscle|muscle organ of pelvic girdle bone|pelvic girdle muscle organ|girdle-pelvic muscle organ|muscle organ of pelvic girdle|muscle organ of girdle-pelvic owl:Class MONDO:0017562 biolink:NamedThing congenital patella dislocation, unilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295234 owl:Class MONDO:0017471 biolink:NamedThing congenital patella dislocation tmpak2llvmy_mondo_relaxed.owl congenital patellar dislocation|congenital dislocation of the patella SCTID:205067002|Orphanet:295036|ICD10:Q74.1|GARD:0009692|MESH:C538081 https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella owl:Class UBERON:0013769 biolink:NamedThing uterine lumen A organ cavity that is part of a uterus. tmpak2llvmy_mondo_relaxed.owl cavity of uterus|uterine space|uterine cavity owl:Class GO:1904731 biolink:NamedThing positive regulation of intestinal lipid absorption Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption. tmpak2llvmy_mondo_relaxed.owl up regulation of intestinal lipid absorption|up-regulation of intestinal lipid absorption|upregulation of intestinal lipid absorption|activation of intestinal lipid absorption owl:Class MONDO:0017823 biolink:NamedThing somatomammotropinoma tmpak2llvmy_mondo_relaxed.owl Somatoprolactinoma|Somatolactotropinoma|Growth hormone and prolactin cosecreting pituitary adenoma|GH and PRL cosecreting pituitary adenoma UMLS:CN203793|Orphanet:314769|ICD10:D35.2 owl:Class MONDO:0017822 biolink:NamedThing mixed functioning pituitary adenoma tmpak2llvmy_mondo_relaxed.owl mixed secreting pituitary adenoma UMLS:C0346305|SCTID:254961003|Orphanet:314759 owl:Class MONDO:0018696 biolink:NamedThing corticobasal syndrome Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237765|Orphanet:454887|ICD10:G31.0 owl:Class MONDO:0015213 biolink:NamedThing non-syndromic visceral malformation tmpak2llvmy_mondo_relaxed.owl nonsyndromic visceral malformation|isolated visceral malformation Orphanet:108971 owl:Class MONDO:0020020 biolink:NamedThing visceral malformation of the liver, biliary tract, pancreas or spleen tmpak2llvmy_mondo_relaxed.owl Orphanet:98041 owl:Class MONDO:0020425 biolink:NamedThing abnormal number of coronary ostia tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99089 owl:Class MONDO:0019826 biolink:NamedThing abnormal origin or aberrant course of coronary artery tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.5|Orphanet:95493 owl:Class HGNC:2682 biolink:NamedThing DAZ1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071331 biolink:NamedThing cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011011 biolink:NamedThing skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl mental retardation, epilepsy, short stature and skeletal dysplasia|intellectual disability, epilepsy, short stature and skeletal dysplasia|GURRIERI syndrome|Gurrieri-Sammito-Bellussi syndrome SCTID:715428003|Orphanet:1858|UMLS:C0796046|GARD:0000350|OMIM:601187|MESH:C537625|ICD10:Q87.5 owl:Class GO:0001821 biolink:NamedThing histamine secretion The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051608 biolink:NamedThing histamine transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004927 biolink:NamedThing dacryocystocele A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. tmpak2llvmy_mondo_relaxed.owl lacrimal mucocele DOID:9939|ICD9:375.43 owl:Class MONDO:0004942 biolink:NamedThing orbit lymphoma A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. tmpak2llvmy_mondo_relaxed.owl primary orbit lymphoma|lymphoma of orbit|orbital lymphoma|lymphoma of the orbit|primary orbital lymphoma UMLS:C0271333|MESH:C537131|SCTID:13048006|GARD:0009719|DOID:9986|NCIT:C6244 owl:Class MONDO:0002889 biolink:NamedThing orbital cancer A primary or metastatic malignant neoplasm involving the orbit. tmpak2llvmy_mondo_relaxed.owl malignant orbit tumor|cancer of orbit of skull|malignant orbit neoplasm|orbital tumor|malignant orbit of skull neoplasm|malignant orbital neoplasm|neoplasm of orbit proper|malignant neoplasm of the orbit|malignant tumor of the orbit|malignant neoplasm of orbit|malignant neoplasm of orbit of skull|malignant orbital tumor|malignant tumor of orbit|orbit of skull cancer|orbit cancer NCIT:C3562|ICD9:239.89|DOID:4143|ICD9:190.1|ICD10:C69.6|SCTID:127003006|EFO:0007408 owl:Class MONDO:0037739 biolink:NamedThing benign neoplasm of cauda equina A benign neoplasm that involves the cauda equina. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of cauda equina UMLS:C0686404|SCTID:92047003 owl:Class MONDO:0007936 biolink:NamedThing macular dystrophy, fenestrated sheen type tmpak2llvmy_mondo_relaxed.owl macular dystrophy, fenestrated sheen type UMLS:C1835173|OMIM:153890|MESH:C563607 owl:Class MONDO:0020242 biolink:NamedThing genetic macular dystrophy Macular dystrophy that is related to a change in a gene. tmpak2llvmy_mondo_relaxed.owl genetic macular dystrophy|genetic macular dystrophy (disease) ICD10:H35.5|Orphanet:98664|SCTID:276436007|NCIT:C140264 owl:Class MONDO:0004343 biolink:NamedThing pancreatic acinar cell cystadenocarcinoma A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|pancreatic acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of the pancreas DOID:7729|UMLS:C1266087|NCIT:C5727|ICDO:8551/3 owl:Class GO:0007613 biolink:NamedThing memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008076 biolink:NamedThing amyotrophic neuralgia An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. tmpak2llvmy_mondo_relaxed.owl amyotrophy, hereditary neuralgic, with predilection for brachial plexus|hereditary neuralgic amyotrophy|brachial plexus neuropathy, hereditary|hereditary brachial plexus neuropathy|neuritis with brachial predilection|amyotrophy, hereditary neuralgic|HNA|neuralgic amyotrophy ICD10:G54.5|GARD:0003955|ICD9:353.5|SCTID:26609002|OMIM:162100|DOID:10383 owl:Class NCBITaxon:1399770 biolink:NamedThing Entomophthoromycetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1264859 biolink:NamedThing Entomophthoromycotina tmpak2llvmy_mondo_relaxed.owl Zygomycota|Entomophthoromycota PMID:17572334|PMID:17051209|PMID:27738200|GC_ID:1 NCBITaxon:451824 ncbi_taxonomy owl:Class MONDO:0012572 biolink:NamedThing Sakoda complex tmpak2llvmy_mondo_relaxed.owl Sakoda spectrum|Sakoda complex|sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate OMIM:610871|UMLS:C1970485|GARD:0009695|MESH:C567055 https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex owl:Class MONDO:0049222 biolink:NamedThing intellectual disability, X-linked 107 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 107|intellectual disability, X-linked 107|MRX107 OMIM:301013 owl:Class MONDO:0005074 biolink:NamedThing papillary cystadenocarcinoma A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpak2llvmy_mondo_relaxed.owl papillary cystadenocarcinoma|papillary cystadenocarcinoma, NOS (morphologic abnormality)|papillary cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, papillary, malignant GARD:0010162|UMLS:C0206700|NCIT:C3777|EFO:0000639|ICDO:8450/3|DOID:3110|MESH:D018283 https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma owl:Class HGNC:4451 biolink:NamedThing GPC3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001671 biolink:NamedThing ATPase activator activity Binds to and increases the activity of an ATP hydrolysis activity. tmpak2llvmy_mondo_relaxed.owl ATPase stimulator activity owl:Class MONDO:0002212 biolink:NamedThing pneumonic tularemia A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. tmpak2llvmy_mondo_relaxed.owl pneumonic tularaemia|bronchopneumonic tularemia|pulmonary tularemia SCTID:45556008|ICD9:021.2|ICD10:A21.2|DOID:2122|UMLS:C0339946 owl:Class MONDO:0005509 biolink:NamedThing histiocytoma A mesenchymal tumor composed of fibroblastic and histiocytic cells. tmpak2llvmy_mondo_relaxed.owl histiocytoma DOID:4231|SCTID_2010_1_31:128741006|SCTID_2010_1_31:154614002|EFO:0005561|SCTID_2010_1_31:302843004|ICDO:8831/0|UMLS:C1509147|SCTID_2010_1_31:72079004|NCIT:C35765|SCTID_2010_1_31:189773000|MESH:D051642 owl:Class UBERON:0011250 biolink:NamedThing autopod bone A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015063 biolink:NamedThing autopod endochondral element A endochondral element that is part of a autopod region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006596 biolink:NamedThing photoallergic dermatitis A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. tmpak2llvmy_mondo_relaxed.owl photoallergic eczema|photoallergic contact dermatitis MESH:D017454|DOID:3818|EFO:1000751|SCTID:111209006|UMLS:C0162824|ICD9:692.72|Wikipedia:Photodermatitis owl:Class MONDO:0006158 biolink:NamedThing colorectal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the colon or rectum. tmpak2llvmy_mondo_relaxed.owl colorectal DLBCL|diffuse large B-cell lymphoma of colorectum|colorectal diffuse large B-cell lymphoma|colorectum diffuse large B-cell lymphoma NCIT:C96503|UMLS:C3272827|EFO:1000191 owl:Class MONDO:0012516 biolink:NamedThing mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis, Guion-Almeida type|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis-microcephaly syndrome|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|MFDM syndrome|MFDM|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|MFDGA|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|mandibulofacial dysostosis with microcephaly OMIM:610536|SCTID:711543008|Orphanet:79113|DOID:0080196|ICD10:Q87.0|MESH:C537405|UMLS:C1864652|GARD:0010056 owl:Class MONDO:0002424 biolink:NamedThing rectosigmoid carcinoma A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. tmpak2llvmy_mondo_relaxed.owl rectosigmoid cancer|rectosigmoid carcinoma|carcinoma of rectosigmoid junction|rectosigmoid junction carcinoma DOID:2781|NCIT:C7421|UMLS:C1327709 owl:Class MONDO:0002425 biolink:NamedThing rectosigmoid junction cancer A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of rectosigmoid junction|malignant rectosigmoid neoplasm|malignant rectosigmoid tumor|malignant neoplasm of the rectosigmoid junction|malignant neoplasm of rectosigmoid junction|malignant tumor of the rectosigmoid junction|cancer of rectosigmoid junction|rectosigmoid junction cancer|malignant rectosigmoid junction neoplasm|malignant neoplasm of rectosigmoid NCIT:C7420|UMLS:C0153443|DOID:2782|SCTID:363414004|ICD10:C19|ICD9:154.0 owl:Class GO:0016108 biolink:NamedThing tetraterpenoid metabolic process The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. tmpak2llvmy_mondo_relaxed.owl tetraterpene metabolic process|tetraterpenoid metabolism|tetraterpene metabolism owl:Class GO:0006721 biolink:NamedThing terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. tmpak2llvmy_mondo_relaxed.owl terpenoid metabolism owl:Class MONDO:0016966 biolink:NamedThing partial trisomy of the long arm of chromosome 16 tmpak2llvmy_mondo_relaxed.owl chromosome 16q duplication|16q duplication|partial trisomy of chromosome 16q|16q trisomy|trisomy 16q|partial trisomy of the long arm of chromosome type 16|Duplication 16q|partial duplication of chromosome 16q|partial duplication of the long arm of chromosome 16|partial trisomy 16q GARD:0005316|MESH:C538042|Orphanet:262959|UMLS:CN036363 owl:Class GO:0009101 biolink:NamedThing glycoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl glycoprotein synthesis|glycoprotein formation|glycoprotein biosynthesis|glycoprotein anabolism owl:Class GO:0034645 biolink:NamedThing cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular macromolecule formation|cellular macromolecule synthesis|cellular macromolecule biosynthesis|cellular biopolymer biosynthetic process|cellular macromolecule anabolism owl:Class CHEBI:64047 biolink:NamedThing food additive Any substance which is added to food to preserve or enhance its flavour and/or appearance. tmpak2llvmy_mondo_relaxed.owl food additives owl:Class HGNC:451 biolink:NamedThing AMACR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010856 biolink:NamedThing autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). tmpak2llvmy_mondo_relaxed.owl polycystic kidney disease, infantile severe, with tuberous sclerosis|chromosome 16P13.3 deletion syndrome, distal|PKDTS|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|polycystic kidneys, severe infantile with tuberous sclerosis|tuberous sclerosis polycystic kidney disease contiguous gene syndrome OMIM:600273|UMLS:C1838327|SCTID:765331004|Orphanet:88924|MESH:C536328|GARD:0009481 owl:Class MONDO:0016894 biolink:NamedThing partial deletion of the short arm of chromosome 16 tmpak2llvmy_mondo_relaxed.owl partial deletion of the short arm of chromosome type 16|partial monosomy of the short arm of chromosome 16|partial monosomy of chromosome 16p|partial deletion of chromosome 16p ICD10:Q93.5|Orphanet:261956 owl:Class MONDO:0017496 biolink:NamedThing congenital absence of thigh and lower leg with foot present, unilateral tmpak2llvmy_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, unilateral Orphanet:295089|ICD10:Q72.1 owl:Class MONDO:0017442 biolink:NamedThing congenital absence of thigh and lower leg with foot present tmpak2llvmy_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia ICD10:Q72.1|SCTID:55852007|Orphanet:294977|ICD9:755.33 owl:Class ECTO:7000068 biolink:NamedThing exposure to particulate matter A exposure event involving the interaction of an exposure receptor to particulate matter. tmpak2llvmy_mondo_relaxed.owl particulate matter exposure owl:Class MONDO:0017455 biolink:NamedThing hyperphalangy Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl supernumerary phalanx|supernumerary phalanges SCTID:763535005|Orphanet:295002|ICD10:Q74.8 owl:Class MONDO:0019714 biolink:NamedThing non-syndromic polydactyly, syndactyly and/or hyperphalangy tmpak2llvmy_mondo_relaxed.owl nonsyndromic polydactyly, syndactyly and/or hyperphalangy|isolated polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 owl:Class MONDO:0014458 biolink:NamedThing Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. tmpak2llvmy_mondo_relaxed.owl Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young|FRTS4 with MODY|Fanconi syndrome caused by mutation in HNF4A|HNF4A Fanconi syndrome|FRTS4 OMIM:616026|UMLS:C4014962 owl:Class UBERON:0002374 biolink:NamedThing metacarpal bone A bone that is part of the metacarpal skeleton. tmpak2llvmy_mondo_relaxed.owl metacarpal owl:Class UBERON:0003821 biolink:NamedThing metapodium bone A bone of the metapodial skeleton tmpak2llvmy_mondo_relaxed.owl metacarpal/metatarsal|metapodi bone|metapodium bone|metacarpal or metatarsal bone|metapodial bone|metacarpal/metatarsal bone owl:Class MONDO:0020559 biolink:NamedThing O'Sullivan-McLeod syndrome O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. tmpak2llvmy_mondo_relaxed.owl UMLS:C2721741|ICD10:G12.8|MedDRA:10069682|Orphanet:99965 owl:Class MONDO:0011224 biolink:NamedThing monomelic amyotrophy Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. tmpak2llvmy_mondo_relaxed.owl Hirayama disease|spinal muscular atrophy, juvenile, nonprogressive|benign focal amyotrophy|juvenile muscular atrophy of the distal upper limb|juvenile muscular atrophy of distal upper extremity|amyotrophy, monomelic|JMADUE|spinal muscular atrophy juvenile nonprogressive MESH:C538253|UMLS:C1865384|GARD:0009697|Orphanet:65684|ICD10:G12.8|EFO:1001989|MedDRA:10069681|OMIM:602440 https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy owl:Class UBERON:0002407 biolink:NamedThing pericardium The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9220 biolink:NamedThing POU4F3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005268 biolink:NamedThing renal cortex artery An artery that supplies the renal cortex. tmpak2llvmy_mondo_relaxed.owl kidney cortex artery|renal cortex arterial system|renal cortex artery owl:Class UBERON:0003644 biolink:NamedThing kidney arterial blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl kidney arterial system owl:Class HGNC:14628 biolink:NamedThing CDCA7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006051 biolink:NamedThing postweaning multisystemic wasting syndrome Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus. tmpak2llvmy_mondo_relaxed.owl EFO:1000048 owl:Class MONDO:0043969 biolink:NamedThing nocturnal paroxysmal dystonia A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. tmpak2llvmy_mondo_relaxed.owl sleep related dystonia|sleep-related dystonia|dystonia, sleep-related|dystonias, nocturnal paroxysmal|hypnogenic paroxysmal dystonias|dystonias, sleep-related|paroxysmal dystonia, nocturnal|paroxysmal dystonias, nocturnal|paroxysmal dystonias, hypnogenic|dystonias, hypnogenic paroxysmal|hypnogenic paroxysmal dystonia|dystonia, nocturnal, paroxysmal|paroxysmal dystonia, hypnogenic|dystonia, nocturnal paroxysmal|nocturnal paroxysmal dystonias|dystonia, hypnogenic paroxysmal|sleep-related dystonias UMLS:C0393777|MESH:D020183|SCTID:230500006|EFO:1001772 owl:Class MONDO:0100081 biolink:NamedThing sleep disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. tmpak2llvmy_mondo_relaxed.owl parasomnia|disturbances, sleep|sleep disturbance|sleep disturbances NCIT:C3376 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0014390 biolink:NamedThing muscle layer of ileum A muscular coat that is part of a ileum. tmpak2llvmy_mondo_relaxed.owl ileal smooth muscle|smooth muscle of ileum|muscularis propria of ileum|muscularis externa of ileum owl:Class UBERON:0006660 biolink:NamedThing muscular coat A region of muscle in many organs in the vertebrate body, adjacent to the submucosa membrane. It is responsible for gut movement such as peristalsis. tmpak2llvmy_mondo_relaxed.owl muscular coat|transverse muscular fibers|muscular layer|tunica externa|muscularis externa|tunica muscularis|muscularis layer|muscularis|muscularis propria owl:Class MONDO:0011603 biolink:NamedThing GNE myopathy Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. tmpak2llvmy_mondo_relaxed.owl rimmed vacuole myopathy|inclusion body myopathy autosomal recessive|distal myopathy, Nonaka type|DMRV|QSM|inclusion body myopathy, quadriceps-sparing|inclusion body myopathy, autosomal recessive|inclusion body myopathy 2, autosomal recessive|hereditary inclusion body myopathy type 2|NM|distal myopathy with rimmed vacuoles|quadriceps sparing myopathy|inclusion body myopathy 2, autosomal recessive, formerly|myopathy, distal, with or without rimmed vacuoles|inclusion body myopathy type 2|quadriceps-sparing myopathy|HIBM2|Nonaka myopathy|Nonaka distal myopathy|myopathy, distal, with rimmed vacuoles|inclusion body myopathy, hereditary, autosomal recessive|IBM2 GARD:0009493|Orphanet:602|SCTID:702382000|OMIM:605820|ICD10:G71.8 owl:Class MONDO:0016109 biolink:NamedThing autosomal recessive distal myopathy Autosomal recessive form of distal myopathy. tmpak2llvmy_mondo_relaxed.owl distal myopathy, autosomal recessive ICD10:G71.0|UMLS:CN229019|Orphanet:206653 owl:Class GO:0031642 biolink:NamedThing negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpak2llvmy_mondo_relaxed.owl inhibition of myelination|down-regulation of myelination|down regulation of myelination|downregulation of myelination owl:Class MONDO:0012338 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl EIG4|epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 OMIM:609750|DOID:0111319 owl:Class GO:0031646 biolink:NamedThing positive regulation of nervous system process Any process that activates or increases the frequency, rate or extent of a neurophysiological process. tmpak2llvmy_mondo_relaxed.owl up-regulation of neurological process|up regulation of neurological process|activation of neurological process|positive regulation of neurological process|upregulation of neurological process|stimulation of neurological process|positive regulation of neurophysiological process|positive regulation of neurological system process owl:Class CHEBI:24669 biolink:NamedThing hydroxy carboxylic acid Any carboxylic acid with at least one hydroxy group. tmpak2llvmy_mondo_relaxed.owl hydroxycarboxylic acid|hydroxy carboxylic acids|hydroxycarboxylic acids owl:Class ENVO:01001136 biolink:NamedThing ocean planet A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water. tmpak2llvmy_mondo_relaxed.owl panthalassic planet|water world|aquaplanet owl:Class MONDO:0044788 biolink:NamedThing perihilar intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. tmpak2llvmy_mondo_relaxed.owl perihilar ICC|perihilar intrahepatic cholangiocarcinoma|perihilar bile duct carcinoma|perihilar cholangiocarcinoma ONCOTREE:PHCH|NCIT:C96804 owl:Class MONDO:0056797 biolink:NamedThing neurodevelopmental disorder with midbrain and hindbrain malformations tmpak2llvmy_mondo_relaxed.owl NEDMHM|neurodevelopmental disorder with midbrain and hindbrain malformations UMLS:C4479613|OMIM:617523|DOID:0080312 owl:Class MONDO:0002666 biolink:NamedThing pancreatic signet ring cell adenocarcinoma A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern. tmpak2llvmy_mondo_relaxed.owl signet Ring cell carcinoma of pancreas|pancreatic signet ring cell carcinoma|pancreatic signet Ring cell carcinoma|pancreas signet ring cell carcinoma|signet Ring cell carcinoma of the pancreas UMLS:C1335317|NCIT:C5720|DOID:3497 owl:Class UBERON:0004188 biolink:NamedThing glomerular epithelium The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. tmpak2llvmy_mondo_relaxed.owl kidney glomerular epithelium|epithelium of renal glomerulus|glomerular epithelial cell|epithelium of kidney glomerulus|epithelium of glomerulus owl:Class MONDO:0004876 biolink:NamedThing myocardial stunning Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. tmpak2llvmy_mondo_relaxed.owl DOID:9767|MESH:D017682|UMLS:C0206146 owl:Class CL:0019003 biolink:NamedThing tracheobronchial goblet cell Any goblet cell that is part of the tracheobronchial epithelium. tmpak2llvmy_mondo_relaxed.owl goblet cell of tracheobronchial tree 2020-05-07 18:14:52+00:00 owl:Class CL:0002370 biolink:NamedThing respiratory goblet cell A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion. tmpak2llvmy_mondo_relaxed.owl respiratory mucosa goblet cells tmeehan 2010-09-23T04:42:27Z cell owl:Class UBERON:0018227 biolink:NamedThing pulmonary lymphatic vessel A lymphatic vessel that is part of a lung. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel of lung owl:Class MONDO:0017958 biolink:NamedThing magic syndrome tmpak2llvmy_mondo_relaxed.owl mouth and genital ulcers with inflamed cartilage GARD:0013371|UMLS:CN204105|Orphanet:324972 owl:Class MONDO:0017957 biolink:NamedThing unclassified autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:324936|UMLS:CN204103 Reason: out of scope. Term to consider: MONDO_0019751. MONDO:0019751 owl:Class MONDO:0100088 biolink:NamedThing late-onset familial alzheimer disease A form of familial Alzheimer disease, that begins after age 65. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease type 2 GARD:0012799 owl:Class MONDO:0100087 biolink:NamedThing familial Alzheimer disease A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease, familial|FAD|GARD:0000632 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001171 biolink:NamedThing acute salpingo-oophoritis Acute form of salpingo-oophoritis. tmpak2llvmy_mondo_relaxed.owl salpingo-oophoritis, acute|acute salpingitis and oophoritis DOID:10971|ICD10:N70.03|SCTID:266581008|ICD10:N70.0|UMLS:C0156327|ICD9:614.0 owl:Class MONDO:0018145 biolink:NamedThing congenital retinal arteriovenous communication tmpak2llvmy_mondo_relaxed.owl congenital arteriovenous anastomoses of the retina|congenital arteriovenous communication of the retina|congenital retinal arteriovenous anastomoses ICD10:Q14.8|Orphanet:353334 owl:Class MONDO:0018203 biolink:NamedThing LMNA-related cardiocutaneous progeria syndrome A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. tmpak2llvmy_mondo_relaxed.owl LCPS ICD10:E34.8|Orphanet:363618|UMLS:CN204714 owl:Class MONDO:0021808 biolink:NamedThing acute cholinergic dysautonomia A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset. tmpak2llvmy_mondo_relaxed.owl ACD GARD:0009394|UMLS:C2930973|MESH:C535672 https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia owl:Class MONDO:0021809 biolink:NamedThing primary dysautonomia Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. tmpak2llvmy_mondo_relaxed.owl Dysautonomias|dysautonomia, primary|dysautonomia|Dysautonomias, primary|primary dysautonomia MESH:D054969 owl:Class MONDO:0021143 biolink:NamedThing melanocytic neoplasm tmpak2llvmy_mondo_relaxed.owl melanocytic neoplasm|melanomas and nevi MESH:D018326|NCIT:C7058|UMLS:C1302746|SCTID:399956005 owl:Class MONDO:0021635 biolink:NamedThing neurocristopathy That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. tmpak2llvmy_mondo_relaxed.owl disorder of neural crest cell development|neural crest cell development disease|disorder of neural crest development owl:Class UBERON:0003512 biolink:NamedThing lung blood vessel A blood vessel that is part of a lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of lung|pulmonary vascular element owl:Class MONDO:0004426 biolink:NamedThing frontal convexity meningioma A meningioma that affects the frontal sulcus. tmpak2llvmy_mondo_relaxed.owl UMLS:C1333643|NCIT:C5292|DOID:8000 owl:Class MONDO:0003774 biolink:NamedThing cerebral convexity meningioma A meningioma that affects the cerebral sulcus. tmpak2llvmy_mondo_relaxed.owl cerebral hemispheric convexity meningioma NCIT:C4959|UMLS:C0751303|DOID:6114 owl:Class FOODON:00001258 biolink:NamedThing food (fermented) tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6193 biolink:NamedThing JAK3 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000952 biolink:NamedThing Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. tmpak2llvmy_mondo_relaxed.owl Yellow skin|Jaundice|Icterus|Yellowing of the skin UMLS:C0022346|SNOMEDCT_US:18165001|MSH:D007565 human_phenotype owl:Class HP:0001005 biolink:NamedThing Dermatological manifestations of systemic disorders tmpak2llvmy_mondo_relaxed.owl UMLS:C4025812 human_phenotype owl:Class MONDO:0000548 biolink:NamedThing ovarian clear cell cancer An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. tmpak2llvmy_mondo_relaxed.owl ovarian clear cell carcinoma|malignant ovarian clear cell tumor|clear-cell ovarian carcinoma|malignant ovarian clear cell neoplasm NCIT:C40077|DOID:0050934|UMLS:C1518230 owl:Class MONDO:0021144 biolink:NamedThing ovarian clear cell tumor A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. tmpak2llvmy_mondo_relaxed.owl clear cell ovarian cancer|ovarian clear cell neoplasm|ovarian clear cell tumor NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164 owl:Class MONDO:0003245 biolink:NamedThing aflatoxin-related hepatocellular carcinoma A hepatocellular carcinoma that develops following exposure to aflatoxin. tmpak2llvmy_mondo_relaxed.owl aflatoxins-related hepatocellular carcinoma|aflatoxins-related hepatocellular cancer DOID:5022|UMLS:C1332222|NCIT:C27922 owl:Class MONDO:0007256 biolink:NamedThing hepatocellular carcinoma A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. tmpak2llvmy_mondo_relaxed.owl carcinoma of liver cells|primary carcinoma of liver cells|carcinoma of the liver cells|hepatoblastoma caused by somatic mutation|liver carcinoma|HCC|liver cell cancer (hepatocellular carcinoma)|hepatoma|hepatocellular carcinoma|cancer, hepatocellular|adult hepatoma|carcinoma of liver|liver cancer|liver and intrahepatic bile duct carcinoma|hepatocellular cancer|primary carcinoma of the liver cells|adult primary hepatocellular carcinoma|hepatoblastoma|carcinoma, hepatocellular, malignant|hepatocellular adenocarcinoma|liver cell carcinoma ONCOTREE:HCC|NCIT:C3099|MESH:D006528|MedDRA:10049010|DOID:684|Orphanet:88673|OMIM:114550|ICDO:8170/3|ICD10:C22.0|EFO:0000182|DOID:686 owl:Class MONDO:0017302 biolink:NamedThing qualitative or quantitative defects of troponin tmpak2llvmy_mondo_relaxed.owl Orphanet:284786 owl:Class MONDO:0016139 biolink:NamedThing qualitative or quantitative protein defects in neuromuscular diseases tmpak2llvmy_mondo_relaxed.owl Orphanet:207049|UMLS:CN200901 owl:Class HGNC:15464 biolink:NamedThing SPINK5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017489 biolink:NamedThing ulnar hemimelia, unilateral tmpak2llvmy_mondo_relaxed.owl ulnar longitudinal meromelia, unilateral ICD10:Q71.5|Orphanet:295075 owl:Class MONDO:0019670 biolink:NamedThing ulnar hemimelia Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. tmpak2llvmy_mondo_relaxed.owl ulnar longitudinal meromelia|ulnar clubhand|congenital longitudinal deficiency of the ulna Orphanet:93320|ICD9:755.59|ICD10:Q71.5|SCTID:21893008 owl:Class GO:0055127 biolink:NamedThing vibrational conductance of sound to the inner ear The transmission of vibrations via ossicles to the inner ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024323 biolink:NamedThing glomangiomyoma A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. tmpak2llvmy_mondo_relaxed.owl glomangiomyoma ICDO:8713/0|UMLS:C0334422|NCIT:C4223|DOID:8020 owl:Class MONDO:0018327 biolink:NamedThing glomus tumor A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. tmpak2llvmy_mondo_relaxed.owl glomus tumor|glomus tumour|glomus neoplasm Orphanet:391651|MESH:D005918|ICDO:8711/0|ICD9:239.7|DOID:2431|SCTID:403969002|UMLS:C0017653|NCIT:C3060|ICD10:D18.0 owl:Class MONDO:0044652 biolink:NamedThing optic atrophy-peripheral neuropathy-developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl Harel-Yoon syndrome Orphanet:496790 owl:Class GO:0042866 biolink:NamedThing pyruvate biosynthetic process The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. tmpak2llvmy_mondo_relaxed.owl pyruvate synthesis|pyruvate anabolism|pyruvate formation|pyruvate biosynthesis owl:Class GO:0006090 biolink:NamedThing pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase bypass|pyruvate metabolism owl:Class MONDO:0024652 biolink:NamedThing embryonic cyst of fallopian tube tmpak2llvmy_mondo_relaxed.owl embryonic cyst of fallopian tube|cyst of mesenteric remnant ICD10:Q50.4|SCTID:302954008 owl:Class MONDO:0012881 biolink:NamedThing major affective disorder 7 tmpak2llvmy_mondo_relaxed.owl major affective disorder 7|bipolar affective disorder|major affective disorder type 7|MAFD7 MESH:C567529|OMIM:612371 owl:Class MONDO:0024280 biolink:NamedThing polyarticular arthritis An arthritis affecting five or more separate joints. tmpak2llvmy_mondo_relaxed.owl polyarticular arthritis|polyarthritis SCTID:416956002|NCIT:C26996 owl:Class OBO:MFOMD_0000119 biolink:NamedThing dissociation A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. The disturbance may be sudden or gradual, transient or chronic. DSM-IV-TR (american Psychiatric Association) tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MFOMD_0000024 biolink:NamedThing pathological mental process tmpak2llvmy_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0016103 biolink:NamedThing isolated asymptomatic elevation of creatine phosphokinase Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. tmpak2llvmy_mondo_relaxed.owl idiopathic asymptomatic hyperCKemia|isolated asymptomatic hyperCKemia|isolated hyperCKemia|hyperCKmia DOID:0111338|NCIT:C148327|Orphanet:206599 owl:Class MONDO:0016147 biolink:NamedThing qualitative or quantitative defects of dystrophin tmpak2llvmy_mondo_relaxed.owl dystrophinopathy UMLS:CN043595|Orphanet:207085 owl:Class UBERON:0034980 biolink:NamedThing jugular bulb tmpak2llvmy_mondo_relaxed.owl bulb of jugular vein owl:Class HP:0000175 biolink:NamedThing Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). tmpak2llvmy_mondo_relaxed.owl Palatoschisis|Cleft palate|Cleft roof of mouth|Cleft of palate|Cleft of hard and soft palate|Cleft hard and soft palate|Uranostaphyloschisis|Cleft secondary palate SNOMEDCT_US:63567004|Fyler:4876|UMLS:C2981150|MSH:D002972|UMLS:C0008925|SNOMEDCT_US:87979003 Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0410004 human_phenotype owl:Class HP:0100737 biolink:NamedThing Abnormal hard palate morphology tmpak2llvmy_mondo_relaxed.owl Abnormality of the secondary palate|Abnormality of the hard palate UMLS:C4021983 doelkens 2011-06-06T05:42:10Z human_phenotype owl:Class UBERON:8410008 biolink:NamedThing venule of anorectum A venule that is located in the anorectum. tmpak2llvmy_mondo_relaxed.owl anorectum venule owl:Class MONDO:0005501 biolink:NamedThing congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. tmpak2llvmy_mondo_relaxed.owl B4GALT1-CDG (CDG-2d)|MOGS-CDG (CDG-2b)|MOGS-CDG|MGAT2-CDG|B4GALT1-CDG|congenital disorders of glycosylation, type II|congenital disorder of glycosylation type II|MGAT2-CDG (CDG-2a) DOID:0050571|OMIMPS:212066|EFO:0005546|MESH:C535747 owl:Class MONDO:0018989 biolink:NamedThing recurrent acute pancreatitis Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. tmpak2llvmy_mondo_relaxed.owl ICD10:K85.9|MedDRA:10033657|SCTID:197458008|UMLS:C0267937|ICD10:K85.8|Orphanet:64740|ICD10:K85.2|ICD10:K85.0|ICD10:K85.1|ICD10:K85.3 owl:Class MONDO:0002356 biolink:NamedThing pancreas disease A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. tmpak2llvmy_mondo_relaxed.owl diseases, pancreatic|disease or disorder of pancreas|pancreatic disorder|pancreas disease|disorder of pancreas|disease of pancreas|pancreatic disease|disease, pancreatic|pancreas disease or disorder SCTID:3855007|MESH:D010182|NCIT:C26842|ICD9:577.9|ICD9:577.8|DOID:26|ICD10:K86.8 owl:Class MONDO:0021440 biolink:NamedThing benign neoplasm of skin A benign neoplasm that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl benign skin neoplasm|benign cutaneous neoplasm|benign cutaneous tumor|benign neoplasm of the skin|benign tumor of skin|zone of skin benign neoplasm|benign tumor of the skin|skin neoplasms, benign|benign skin tumor UMLS:C0004998|SCTID:92384009|NCIT:C2896|ICD9:216.9|ICD9:216.8 owl:Class MONDO:0030720 biolink:NamedThing trichomonal vulvovaginitis An vulvovaginitis caused by infection with Trichomonas vaginalis. tmpak2llvmy_mondo_relaxed.owl Trichomonas vaginalis vulvovaginitis|trichomonal leukorrhea|Trichomonas vaginalis caused vulvovaginitis|leukorrhea vaginalis - trichomonal|trichomonal vulvovaginitis UMLS:C2945558|SCTID:81598001|ICD9:131.01 owl:Class MONDO:0007019 biolink:NamedThing vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. tmpak2llvmy_mondo_relaxed.owl Vulvo-vaginitis NCIT:C35131|ICD10:N76.0|DOID:2273|EFO:1001240|MedDRA:10047794|UMLS:C0042998|SCTID:53277000|MESH:D014848 owl:Class MONDO:0003596 biolink:NamedThing spindle cell liposarcoma A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma. tmpak2llvmy_mondo_relaxed.owl spindle cell liposarcoma ICD9:171.9|NCIT:C27489|SCTID:404073009|DOID:5705|UMLS:C1275275 owl:Class MONDO:0005103 biolink:NamedThing well-differentiated liposarcoma A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. tmpak2llvmy_mondo_relaxed.owl atypical lipomatous tumor|WDLS|well differentiated liposarcoma|atypical lipoma|well-differentiated liposarcoma|ALT|well differentiated liposarcoma of deep soft tissue EFO:0000736|ICD10:C49.9|ICDO:8851/3|UMLS:C1370889|ONCOTREE:WDLS|NCIT:C4250|Orphanet:99971 owl:Class UBERON:0002123 biolink:NamedThing cortex of thymus the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes tmpak2llvmy_mondo_relaxed.owl thymic cortex|thymus cortex owl:Class UBERON:0001851 biolink:NamedThing cortex Outermost layer of an organ[WP]. tmpak2llvmy_mondo_relaxed.owl cortex|cortex of organ owl:Class UBERON:0005406 biolink:NamedThing perirenal fat The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. tmpak2llvmy_mondo_relaxed.owl perirenal fascia|capsula adiposa renis|fatty capsule of kidney|perinephric fat|perirenal fat capsule|perirenal fat pad|periphrenic fascia|adipose capsule of kidney owl:Class MONDO:0007742 biolink:NamedThing 5-hydroxytryptamine oxygenase regulator tmpak2llvmy_mondo_relaxed.owl HTOR|5-HYDROXYTRYPTAMINE oxygenase regulator|5-hydroxytryptamine oxygenase regulator OMIM:143460 owl:Class MONDO:0017011 biolink:NamedThing uniparental disomy of chromosome X tmpak2llvmy_mondo_relaxed.owl UPD(X)|uniparental disomy of chromosome type X Orphanet:263793|ICD10:Q99.8 owl:Class MONDO:0020558 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpak2llvmy_mondo_relaxed.owl CMT2K|Charcot-Marie-Tooth disease type 2K GARD:0009199|SCTID:719512003|ICD10:G60.0|UMLS:C1842984|NCIT:C133886|Orphanet:99944|UMLS:CN207468 owl:Class NCBITaxon:11292 biolink:NamedThing Rabies lyssavirus tmpak2llvmy_mondo_relaxed.owl Rabies virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11286 biolink:NamedThing Lyssavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020054 biolink:NamedThing partial autosomal monosomy tmpak2llvmy_mondo_relaxed.owl partial autosomal deletion ICD10:Q93.5|Orphanet:98142|ICD10:Q93.3|ICD10:Q93.4 owl:Class MONDO:0023646 biolink:NamedThing lipodermatosclerosis Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. tmpak2llvmy_mondo_relaxed.owl hypodermitis sclerodermaformis|sclerosing panniculitis|acute lipodermatosclerosis MESH:C537026|SCTID:410016009|UMLS:C0406500|GARD:0009671 https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis owl:Class MONDO:0001382 biolink:NamedThing hepatorenal syndrome Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. tmpak2llvmy_mondo_relaxed.owl hepato-renal syndrome MESH:D006530|NCIT:C113400|GARD:0006610|ICD9:572.4|ICD10:K76.7|SCTID:51292008|DOID:11823|UMLS:C0019212 https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome owl:Class HGNC:23015 biolink:NamedThing FAM20A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904803 biolink:NamedThing regulation of translation involved in cellular response to UV Any regulation of translation that is involved in cellular response to UV. tmpak2llvmy_mondo_relaxed.owl regulation of translation involved in cellular response to ultraviolet radiation stimulus|regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to UV light stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of protein formation involved in cellular response to UV|regulation of translation involved in cellular response to UV radiation stimulus|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of protein synthesis involved in cellular response to UV owl:Class MONDO:0009329 biolink:NamedThing pulmonary venoocclusive disease 2 A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. tmpak2llvmy_mondo_relaxed.owl pulmonary capillary hemangiomatosis|PVOD2|familial pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|pulmonary venoocclusive disease 2, autosomal recessive UMLS:C0340548|ICD9:416.8|SCTID:233949008|ICD10:D18.0|Orphanet:199241|MESH:C535861|OMIM:234810|GARD:0008527 Editor note: check ORDO class - not clear if it intends to be the same as PVOD2 owl:Class MONDO:0009937 biolink:NamedThing pulmonary venoocclusive disease A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. tmpak2llvmy_mondo_relaxed.owl pulmonary capillary hemangiomatosis|obstructive disease of the pulmonary veins|pulmonary veno-occlusive disease|PVOD Orphanet:31837|OMIMPS:265450|NCIT:C85039|UMLS:C0034091|GARD:0010153|ICD9:416.8|SCTID:89420002|MESH:D011668|MedDRA:10037458|DOID:5453 https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease owl:Class MONDO:0017196 biolink:NamedThing osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl Al Gazali Sabrinathan Nair syndrome|osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali-Nair syndrome Orphanet:2773|SCTID:722110003|UMLS:CN202641|GARD:0000587|MESH:C535617|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome owl:Class MONDO:0005287 biolink:NamedThing developmental disability Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) tmpak2llvmy_mondo_relaxed.owl EFO:0003852|MESH:D002658 owl:Class NCBITaxon:11655 biolink:NamedThing Feline lentivirus group tmpak2llvmy_mondo_relaxed.owl Feline lentiviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:348386 biolink:NamedThing unclassified Lentivirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005041 biolink:NamedThing mucosa of respiratory bronchiole A mucosa that is part of a respiratory bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl respiratory bronchiole mucosa of organ|mucosa of organ of bronchiolus respiratorius|mucosa of organ of respiratory bronchiole|organ mucosa of respiratory bronchiole|mucous membrane of bronchiolus respiratorius|bronchiolus respiratorius mucosa|bronchiolus respiratorius mucous membrane|bronchiolus respiratorius mucosa of organ|respiratory bronchiole organ mucosa|mucous membrane of respiratory bronchiole|respiratory bronchiole mucous membrane|bronchiolus respiratorius organ mucosa|organ mucosa of bronchiolus respiratorius|mucosa of bronchiolus respiratorius|respiratory bronchiole mucosa owl:Class UBERON:0005039 biolink:NamedThing mucosa of bronchiole A mucosa that is part of a bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of bronchiole|organ mucosa of bronchiole|mucous membrane of lobular bronchiole|mucosa of lobular bronchiole|bronchiole mucosa of organ|bronchiole mucous membrane|mucosa of organ of bronchiole|mucosa of organ of lobular bronchiole|lobular bronchiole mucosa of organ|lobular bronchiole organ mucosa|bronchiole organ mucosa|lobular bronchiole mucosa|organ mucosa of lobular bronchiole|bronchiole mucosa|lobular bronchiole mucous membrane owl:Class UBERON:0003557 biolink:NamedThing midbrain arachnoid mater An arachnoid mater that is part of a midbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl midbrain arachnoid|arachnoid mater of neuraxis of midbrain|midbrain arachnoid mater of neuraxis|arachnoid of midbrain|mesencephalon arachnoid mater|arachnoid mater of midbrain owl:Class UBERON:0003288 biolink:NamedThing meninx of midbrain A meninx that is part of a midbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesencephalon meninges|midbrain meninx|midbrain meninges|meninges of midbrain owl:Class CL:0000566 biolink:NamedThing angioblastic mesenchymal cell A mesenchymal stem cell capable of developing into blood vessel endothelium. tmpak2llvmy_mondo_relaxed.owl angioblast|chondroplast These cells are reportedly CD31-positive, CD34-positive, CD144-positive, CD309-positive, and TAL1-positive. cell owl:Class CL:0000134 biolink:NamedThing mesenchymal stem cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. tmpak2llvmy_mondo_relaxed.owl colony-forming unit-fibroblast|MSC|mesenchymal progenitor cells|mesenchymal precursor cell|BMSC|bone marrow stromal cells|marrow stromal cells|mesenchymal stromal cell|CFU-F|stem cells, mesenchymal|mesenchymal stromal cells|mesenchymal stem cell BTO:0002625|FMA:70546|BTO:0003298 Many but not all mesenchymal cells derive from the mesoderm. MSCs are reportedly CD3-negative, CD4-negative, CD5-negative, CD8-negative, CD11a-negative, CD11b-negative, CD14-negative, CD19-negative, CD29-positive, CD31-negative, CD34-negative, CD38-negative, CD40-negative, CD44-positive, CD45-negative, CD49-positive, CD54-positive, CD66b-negative, CD79a-negative, CD80-negative, CD102-positive, CD106-positive, CD117-positive, CD121a-positive, CD121b-positive, CD123-positive, CD124-positive, CD133-negative, CD146-positive, CD166-positive, CD271-positive, B220-negative, Gr1-negative, MHCI-positive, MHCII-negative, SSEA4-negative, sca1-positive, Ter119-negative, and glycophorin A-negative. Cultured MSCs are capable of producing stem cell factor, IL7, IL8, IL11, TGF-beta, cofilin, galectin-1, laminin-receptor 1, cyclophilin A, and MMP-2. CL:0002452 cell https://github.com/obophenotype/cell-ontology/issues/474 owl:Class MONDO:0007178 biolink:NamedThing aurocephalosyndactyly tmpak2llvmy_mondo_relaxed.owl Auralcephalosyndactyly|Kurczynski-Casperson syndrome|aural cephalosyndactyly|aurocephalosyndactyly GARD:0009218|UMLS:C1862380|OMIM:109050|MESH:C566235|Orphanet:1219 owl:Class MONDO:0004024 biolink:NamedThing spinal cord neuroblastoma A neuroblastoma that affects the spinal cord. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of the spinal cord|spinal cord neuroblastoma|neuroblastoma of spinal cord DOID:6871|UMLS:C1336046|NCIT:C5155 owl:Class MONDO:0000640 biolink:NamedThing central nervous system primitive neuroectodermal neoplasm A neuroectodermal tumor that involves the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system primitive neuroectodermal neoplasm|CNS PNET|central primitive neuroectodermal tumor|central primitive neuroectodermal neoplasm|central nervous system neuroectodermal tumor|central nervous system primitive neuroectodermal tumor (WHO grade IV)|primitive neuroectodermal tumor of central nervous system|CNS primitive neuroectodermal neoplasm|central nervous system PNET|CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal tumor UMLS:CN201960|DOID:0060103|NCIT:C5398 NCIT calls this CNS embryonal tumor, NOS owl:Class MONDO:0043839 biolink:NamedThing ulcer disease A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. tmpak2llvmy_mondo_relaxed.owl ulcer|ulcerated|ulcerative|ulceration|ulcers UMLS:C0041582|NCIT:C3426|SCTID:429040005|MESH:D014456 owl:Class CL:0008019 biolink:NamedThing mesenchymal cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. tmpak2llvmy_mondo_relaxed.owl mesenchyme cell owl:Class CL:0000219 biolink:NamedThing motile cell A cell that moves by its own activities. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0043240 biolink:NamedThing hemophilic arthropathy A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. tmpak2llvmy_mondo_relaxed.owl hemophilic arthritis|hemophilic arthropathy|arthropathy in hemophilia SCTID:80813006|GARD:0006592|UMLS:C0263725|NCIT:C27039 owl:Class MONDO:0012747 biolink:NamedThing glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. tmpak2llvmy_mondo_relaxed.owl aldolase deficiency red cell|glycogen storage disease type 12|GSD due to aldolase A deficiency|glycogen storage disease XII|glycogen storage disease due to aldolase A deficiency|Aldoa deficiency|glycogen storage disease type XII|aldolase deficiency, Red cell|glycogenosis type XII|GSD type 12|Red cell aldolase deficiency|GSD type XII|GSD 12|glycogenosis due to aldolase A deficiency|glycogen storage disease 12|glycogenosis type 12|GSD12|aldolase a deficiency OMIM:611881|Orphanet:57|UMLS:C0272066|GARD:0000600|ICD10:E74.0|SCTID:111578003|ICD9:282.3|MESH:C562718 owl:Class MONDO:0014052 biolink:NamedThing congenital myasthenic syndrome 8 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome type 8|congenital myasthenic syndrome due to agrin deficiency|myasthenic syndrome, congenital, due to agrin deficiency|CMS8|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, 8|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|myasthenic syndrome, congenital, type 8|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome 8 DOID:0110657|UMLS:C3808739|OMIM:615120 owl:Class MONDO:0010586 biolink:NamedThing X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, type 5|EDS5|Ehlers-Danlos syndrome, type V|Ehlers-Danlos syndrome type 5|EDS 5|Ehlers-Danlos syndrome, X-linked|EDS V OMIM:305200|SCTID:67202007|Orphanet:75497|UMLS:C0268341|NCIT:C141423|MESH:C536197|ICD10:Q79.6 owl:Class ECTO:7000008 biolink:NamedThing exposure to clay A exposure event involving the interaction of an exposure receptor to clay. tmpak2llvmy_mondo_relaxed.owl clay exposure owl:Class UBERON:0001710 biolink:NamedThing lower jaw region Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. tmpak2llvmy_mondo_relaxed.owl mandibular series|lower part of mouth|mandibular part of mouth owl:Class MONDO:0026777 biolink:NamedThing VEXAS syndrome An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death. tmpak2llvmy_mondo_relaxed.owl vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS Orphanet:596753|OMIM:301054 owl:Class MONDO:0002089 biolink:NamedThing retinal vascular occlusion An occlusion of the retinal vasculature. tmpak2llvmy_mondo_relaxed.owl retinal vascular occlusion, unspecified|retinal vascular occlusion DOID:1729|UMLS:C0035326|ICD9:362.30|ICD10:H34|NCIT:C34980|ICD9:362.3|ICD10:H34.9|SCTID:73757007 owl:Class MONDO:0002311 biolink:NamedThing retinal vascular disease Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. tmpak2llvmy_mondo_relaxed.owl retina circulation disorder|retinal vascular disorder NCIT:C35170|SCTID:57534004|ICD9:362.13|DOID:2462|UMLS:C0154833 owl:Class MONDO:0007210 biolink:NamedThing Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay tmpak2llvmy_mondo_relaxed.owl Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay UMLS:C1862171|OMIM:112370|MESH:C566206 owl:Class MONDO:0016141 biolink:NamedThing qualitative or quantitative defects of alpha-sarcoglycan tmpak2llvmy_mondo_relaxed.owl alpha-sarcoglycanopathy Orphanet:207060 owl:Class MONDO:0023880 biolink:NamedThing WHIM syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:193670 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0006600 biolink:NamedThing creatine metabolic process The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. tmpak2llvmy_mondo_relaxed.owl creatine metabolism owl:Class MONDO:0010580 biolink:NamedThing immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. tmpak2llvmy_mondo_relaxed.owl XPID|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|Iddm-secretory diarrhea syndrome|autoimmunity-immunodeficiency syndrome x-linked|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|autoimmune enteropathy type 1|XLAAD|autoimmunity-immunodeficiency syndrome, X-linked|immune dysfunction and diarrhea syndrome|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|polyendocrinopathy, immune dysfunction and diarrhea x-linked|X-linked autoimmunity-allergic dysregulation syndrome|IDDM secretory diarrhea syndrome|X linked polyendocrinopathy|IPEX|islets of Langerhans, absence of|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|DMSD|IDDM-secretory diarrhea syndrome|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|IPEX syndrome|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked SCTID:237618001|GARD:1850|OMIM:304790|MESH:C580192|DOID:0090110|Orphanet:37042|ICD10:E31.0|NCIT:C131009|GARD:0001850|ICD9:250.81 owl:Class UBERON:0008971 biolink:NamedThing left colon The distal portion of the colon; it develops embryonically from the hindgut and functions in the storage and elimination of waste. tmpak2llvmy_mondo_relaxed.owl distal colon owl:Class MONDO:0000611 biolink:NamedThing pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. tmpak2llvmy_mondo_relaxed.owl DOID:0060071 owl:Class MONDO:0021074 biolink:NamedThing precancerous condition A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. tmpak2llvmy_mondo_relaxed.owl premalignant state|precancerous state|precancerous condition|premalignant condition MESH:D011230|NCIT:C3341 Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome owl:Class MONDO:0017202 biolink:NamedThing acute endophthalmitis Acute form of endophthalmitis. tmpak2llvmy_mondo_relaxed.owl endophthalmitis, acute ICD10:H44.0|Orphanet:279888|UMLS:C0154773|DOID:11752|MedDRA:10000730|SCTID:1493002|ICD10:H44.1|ICD9:360.01 owl:Class CL:0002608 biolink:NamedThing hippocampal neuron A neuron of the hippocampus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T07:31:49Z cell owl:Class GO:1901653 biolink:NamedThing cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010221 biolink:NamedThing CHIME syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. tmpak2llvmy_mondo_relaxed.owl coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|PIGL-CDG|congenital disorder of glycosylation due to PIGL deficiency|neuroectodermal syndrome, Zunich type|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|glycosylphosphatidylinositol biosynthesis defect 5|CHIME|Zunich-Kaye syndrome|CHIME syndrome|Zunich neuroectodermal syndrome|neuroectodermal dysplasia, CHIME type Orphanet:3474|UMLS:C1848392|MESH:C536729|OMIM:280000|ICD10:Q87.8|GARD:0000310|SCTID:720639008 owl:Class MONDO:0018293 biolink:NamedThing congenital disorder of glycosylation with skin involvement tmpak2llvmy_mondo_relaxed.owl CDG with skin involvement 2022-03-01 ICD10:E77.8|Orphanet:371200 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0020778 biolink:NamedThing cone-rod dystrophy and hearing loss 1 tmpak2llvmy_mondo_relaxed.owl Crdhl|CONE-ROD DYSTROPHY AND HEARING LOSS 1|CRDHL1 OMIM:617236 owl:Class MONDO:0014980 biolink:NamedThing cone-rod dystrophy and hearing loss tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy and hearing loss|CRDHL|cone-rod dystrophy and hearing loss; CRDHL OMIMPS:617236|UMLS:C4310657|EFO:0009151 owl:Class ECTO:0001082 biolink:NamedThing exposure to alcohol consumption An exposure event involving Alcohol Consumption tmpak2llvmy_mondo_relaxed.owl Alcohol Consumption exposure owl:Class MONDO:0014532 biolink:NamedThing autosomal dominant mitochondrial myopathy with exercise intolerance tmpak2llvmy_mondo_relaxed.owl IMMD|myopathy, isolated mitochondrial, autosomal dominant OMIM:616209|ICD10:G71.3|UMLS:C4015513|Orphanet:457050 owl:Class MONDO:0011400 biolink:NamedThing dilated cardiomyopathy 1G Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpak2llvmy_mondo_relaxed.owl TTN familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1G|CMD1G|cardiomyopathy, dilated, type 1G|familial isolated dilated cardiomyopathy caused by mutation in TTN|cardiomyopathy, dilated, 1G ICD10:I42.0|MESH:C565824|DOID:0110430|OMIM:604145|UMLS:C1858763 owl:Class MONDO:0009504 biolink:NamedThing mitochondrial DNA depletion syndrome 9 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. tmpak2llvmy_mondo_relaxed.owl lactic acidosis, fatal infantile|succinate-CoA ligase deficiency|lactic acidosis congenital infantile|lactic acidosis, fatal infantile, formerly|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|MTDPS9|SUCLG1 mitochondrial DNA depletion syndrome|fatal infantile lactic acidosis with methylmalonic aciduria|mitochondrial DNA depletion syndrome 9|mitochondrial DNA depletion syndrome type 9|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1 ICD10:E71.1|GARD:0003163|DOID:0080128|MESH:C566885|MESH:C538134|Orphanet:17|OMIM:245400|SCTID:715338007 https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile owl:Class MONDO:0016796 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. tmpak2llvmy_mondo_relaxed.owl mtDNA depletion syndrome, encephalomyopathic form Orphanet:254803|UMLS:CN202052|UMLS:CN230130 owl:Class MONDO:0013741 biolink:NamedThing familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 5|epilepsy, familial temporal lobe, type 5|familial temporal lobe epilepsy type 5|ETL5 UMLS:C3280730|DOID:0060752|OMIM:614417 owl:Class UBERON:0007602 biolink:NamedThing stratified columnar epithelium Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP] tmpak2llvmy_mondo_relaxed.owl epithelium stratificatum columnare owl:Class UBERON:0000486 biolink:NamedThing multilaminar epithelium Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA] tmpak2llvmy_mondo_relaxed.owl stratified epithelium|laminated epithelium owl:Class MONDO:0013193 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 2 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. tmpak2llvmy_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, type 2|thyrotoxic periodic paralysis, susceptibility to, 2|KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in KCNJ18|TTPP2 OMIM:613239 owl:Class MONDO:0017548 biolink:NamedThing humero-radio-ulnar synostosis, unilateral tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar fusion, unilateral ICD10:Q74.0|Orphanet:295205 owl:Class MONDO:0017983 biolink:NamedThing humero-radio-ulnar synostosis Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar fusion Orphanet:3266|ICD10:Q74.0 owl:Class MONDO:0013771 biolink:NamedThing transient infantile hypertriglyceridemia and hepatosteatosis tmpak2llvmy_mondo_relaxed.owl hypertriglyceridemia, transient infantile|transient infantile hypertriglyceridemia and fatty liver|HTGTI|transient infantile hypertriglyceridemia and hepatosteatosis UMLS:C3280953|Orphanet:300293|OMIM:614480 owl:Class MONDO:0013748 biolink:NamedThing ventricular septal defect 2 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpak2llvmy_mondo_relaxed.owl ventricular septal defect 2|VSD2|CITED2 ventricular septal defect (disease)|ventricular septal defect type 2|ventricular septal defect (disease) caused by mutation in CITED2 OMIM:614431 owl:Class MONDO:0016651 biolink:NamedThing maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(1)mat|maternal uniparental disomy of chromosome type 1 ICD10:Q99.8|Orphanet:251009 owl:Class HGNC:10825 biolink:NamedThing SH3BP2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007142 biolink:NamedThing male meiosis II A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline. tmpak2llvmy_mondo_relaxed.owl male meiosis II nuclear division owl:Class MONDO:0015587 biolink:NamedThing rolandic epilepsy-speech dyspraxia syndrome Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. tmpak2llvmy_mondo_relaxed.owl UMLS:CN199957|Orphanet:163721 owl:Class MONDO:0020072 biolink:NamedThing childhood-onset epilepsy syndrome A epilepsy syndrome that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood-onset epilepsy syndrome|childhood epilepsy syndrome|pediatric epilepsy syndrome|epilepsy syndrome of childhood ICD10:G40.4|UMLS:CN206976|Orphanet:98259 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0007207 biolink:NamedThing Böök syndrome Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. tmpak2llvmy_mondo_relaxed.owl Böök syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome|PHC syndrome MESH:C562993|ICD10:Q82.4|GARD:0000932|UMLS:C0457014|Orphanet:1262|SCTID:722296002|OMIM:112300 owl:Class MONDO:0005224 biolink:NamedThing acute myeloblastic leukemia without maturation An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl acute myeloblastic leukemia M1|acute granulocytic leukemia without maturation|M1 acute myelogenous leukemia|acute myeloid leukemia without maturation (FAB M1)|acute myelocytic leukemia without maturation|M1 acute myeloblastic leukemia without maturation|acute myeloblastic leukemia type 1|M1 acute granulocytic leukemia without maturation|acute myelogenous leukemia without maturation|AWM|acute myeloid leukemia without maturation|FAB M1|M1 acute myeloid leukemia|AML M1|M1 acute granulocytic leukemia|M1 acute myeloid leukemia without maturation|M1 acute myelocytic leukemia without maturation|M1 acute myelogenous leukemia without maturation|M1 acute myeloblastic leukemia|M1 acute myelocytic leukemia|AML without maturation|acute M1 myeloid leukemia ICDO:9873/3|Orphanet:98833|EFO:0003027|GARD:0000526|SCTID:359640008|ONCOTREE:AWM|ICD10:C92.0|NCIT:C3249 https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation owl:Class MONDO:0044656 biolink:NamedThing epidermolytic nevus tmpak2llvmy_mondo_relaxed.owl Epidermal nevus with epidermolytic hyperkeratosis|epidermolytic epidermal nevus|epidermolytic verrucous epidermal nevus UMLS:C1302848|SCTID:400142003|Orphanet:497737 owl:Class MONDO:0017266 biolink:NamedThing keratinopathic ichthyosis tmpak2llvmy_mondo_relaxed.owl KPI Orphanet:281103|UMLS:C4511307|SCTID:724837004 owl:Class GO:0002720 biolink:NamedThing positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpak2llvmy_mondo_relaxed.owl positive regulation of cytokine biosynthetic process involved in immune response|activation of cytokine production during immune response|stimulation of cytokine production during immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|up regulation of cytokine production during immune response|upregulation of cytokine production during immune response|positive regulation of cytokine production during immune response owl:Class UBERON:0002104 biolink:NamedThing visual system The sensory system subserving the sense of vision. tmpak2llvmy_mondo_relaxed.owl photosensory system|visual organ system owl:Class CL:1000330 biolink:NamedThing serous cell of epithelium of trachea A serous secreting cell that is part of the epithelium of trachea. tmpak2llvmy_mondo_relaxed.owl FMA:263078 cell owl:Class MONDO:0002496 biolink:NamedThing submucosal invasive colon adenocarcinoma An adenocarcinoma of the colon that has invaded into the submucosa. tmpak2llvmy_mondo_relaxed.owl submucosal invasive colon adenocarcinoma UMLS:C1515024|NCIT:C38760|DOID:3038 owl:Class MONDO:0006402 biolink:NamedThing salivary gland basal cell adenocarcinoma A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients. tmpak2llvmy_mondo_relaxed.owl basal cell adenocarcinoma of salivary gland|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|basal cell adenocarcinoma of the salivary gland|salivary gland basal cell adenocarcinoma EFO:1000515|ICDO:8147/3|NCIT:C3678 owl:Class MONDO:0044740 biolink:NamedThing salivary gland squamous cell carcinoma A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl salivary gland squamous cell carcinoma|squamous cell carcinoma of salivary gland|SCC of salivary gland|epidermoid carcinoma of salivary gland|SCC of the salivary gland|salivary gland squamous cell cancer|squamous cell carcinoma of salivary glands|epidermoid carcinoma of the salivary gland|salivary gland SCC|squamous cell carcinoma of the salivary gland|salivary gland epidermoid carcinoma|saliva-secreting gland squamous cell carcinoma NCIT:C7991|EFO:1001967|Orphanet:500481|UMLS:C0279697 owl:Class MONDO:0016760 biolink:NamedThing microcephaly-microcornea syndrome, Seemanova type Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. tmpak2llvmy_mondo_relaxed.owl X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|microcephaly microcornea syndrome Seemanova type|Seemanova-Lesny syndrome|Seemanova Lesny syndrome Orphanet:2528|MESH:C537539|ICD10:Q87.8|SCTID:715464002|GARD:0003627 https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type owl:Class MONDO:0001853 biolink:NamedThing contact blepharoconjunctivitis tmpak2llvmy_mondo_relaxed.owl ICD10:H10.53|ICD9:372.22|UMLS:C0155150|DOID:13999|SCTID:10813004 owl:Class CHEBI:51689 biolink:NamedThing enone An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. tmpak2llvmy_mondo_relaxed.owl enones owl:Class CHEBI:78840 biolink:NamedThing olefinic compound Any organic molecular entity that contains at least one C=C bond. tmpak2llvmy_mondo_relaxed.owl olefinic compounds owl:Class MONDO:0013408 biolink:NamedThing FADD-related immunodeficiency A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. tmpak2llvmy_mondo_relaxed.owl FADD-related immunodeficiency|infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations|Fadd deficiency UMLS:C4509831|UMLS:C3151062|OMIM:613759|Orphanet:306550|SCTID:723334006 owl:Class ECTO:0000485 biolink:NamedThing exposure to chemical with biological effect An exposure to biological role. tmpak2llvmy_mondo_relaxed.owl exposure to biological role owl:Class UBERON:0005339 biolink:NamedThing outflow tract pulmonary component tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004145 biolink:NamedThing outflow tract The outflow tract is the portion of the heart through which blood flows into the arteries tmpak2llvmy_mondo_relaxed.owl arterial (outflow) pole|cardiac outflow tract|heart outflow tract owl:Class GO:0046676 biolink:NamedThing negative regulation of insulin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. tmpak2llvmy_mondo_relaxed.owl down regulation of insulin secretion|downregulation of insulin secretion|down-regulation of insulin secretion|inhibition of insulin secretion owl:Class GO:0050796 biolink:NamedThing regulation of insulin secretion Any process that modulates the frequency, rate or extent of the regulated release of insulin. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11280 biolink:NamedThing SQSTM1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004527 biolink:NamedThing alveolar process of maxilla The thickened ridge of bone that contains the tooth sockets on the maxilla. tmpak2llvmy_mondo_relaxed.owl posterior alveolar ridge|alveolar process of maxilla|pars dentalis of maxilla|alveolar margin of maxilla|processus alveolaris maxillae|processus alveolaris (maxilla)|alveolar ridge of maxilla|maxilla alveolar process|lower alveolar ridge|alveolar part of maxilla owl:Class HGNC:4512 biolink:NamedThing ADGRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031948 biolink:NamedThing positive regulation of glucocorticoid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpak2llvmy_mondo_relaxed.owl stimulation of glucocorticoid biosynthetic process|up-regulation of glucocorticoid biosynthetic process|upregulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process|up regulation of glucocorticoid biosynthetic process owl:Class MONDO:0015201 biolink:NamedThing ankyloblepharon filiforme-imperforate anus syndrome An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl Aughton-Hufnagle syndrome|ankyloblepharon filiforme adnatum-imperforate anus syndrome UMLS:CN197555|Orphanet:1074|ICD10:Q87.8 owl:Class GO:0048284 biolink:NamedThing organelle fusion The creation of a single organelle from two or more organelles. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006996 biolink:NamedThing organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl single organism organelle organization|organelle organization and biogenesis|organelle organisation|single-organism organelle organization owl:Class UBERON:0001175 biolink:NamedThing common hepatic duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. tmpak2llvmy_mondo_relaxed.owl ductus hepaticus communis|hepatic duct owl:Class MONDO:0010278 biolink:NamedThing Christianson syndrome Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. tmpak2llvmy_mondo_relaxed.owl intellectual disability, microcephaly, epilepsy, and ataxia syndrome|Angelman-like syndrome, X-linked|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy|mental retardation, X-linked, syndromic, Christianson type|intellectual disability x-linked syndromic Christianson type|intellectual disability, X-linked, syndromic, Christianson type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|Christianson syndrome|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|MRXS Christianson|X-linked Angelman-like syndrome|MRXSCH|X-linked intellectual disability, South African type|Angelman-like syndrome x-linked|mental retardation, X-linked syndromic, Christianson type|intellectual disability microcephaly epilepsy and ataxia syndrome|intellectual disability, X-linked syndromic, Christianson type GARD:0010572|Orphanet:85278|UMLS:C2678194|ICD10:Q87.8|MESH:C567484|OMIM:300243|DOID:0060825|SCTID:702354007|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome owl:Class FOODON:00001958 biolink:NamedThing human milk based food product tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005254 biolink:NamedThing upper leg mesenchyme Mesenchyme that is part of a developing hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003860 biolink:NamedThing hindlimb mesenchyme Mesenchyme that is part of a developing hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of lower extremity|hind limb mesenchyme|mesenchyme of inferior member|mesenchyme of hind limb|inferior member mesenchyme|lower extremity mesenchyme|mesenchyme of hindlimb owl:Class HGNC:11480 biolink:NamedThing SVIL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021096 biolink:NamedThing papillary epithelial neoplasm tmpak2llvmy_mondo_relaxed.owl papillary epithelial neoplasm UMLS:C1335324|NCIT:C8429 owl:Class MONDO:0007562 biolink:NamedThing multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, with myopia and conductive deafness|multiple epiphyseal dysplasia-myopia-deafness syndrome|EDMMD SCTID:719689005|ICD10:Q77.3|MESH:C565046|Orphanet:166011|OMIM:132450|DOID:0111348 owl:Class MONDO:0010750 biolink:NamedThing ulnar hypoplasia-split foot syndrome Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. tmpak2llvmy_mondo_relaxed.owl complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia with lobster-claw deformity of feet|severe ulnar aplasia and lobster claw feet|ulnar hypoplasia lobster claw deformity of feet|familial ulnar aplasia and lobster claw syndrome|Van den Berghe-Dequecker syndrome|ulnar hypoplasia-lobster-claw deformity of feet syndrome OMIM:314360|UMLS:C1839123|Orphanet:1122|MESH:C536936|ICD10:Q73.8|GARD:0005400 owl:Class MONDO:0015474 biolink:NamedThing cryptosporidiosis Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. tmpak2llvmy_mondo_relaxed.owl Cryptosporidioses|Cryptosporidium caused disease or disorder|Cryptosporidium infectious disease|infection by Cryptosporidium|Cryptosporidium infection|Cryptosporidium disease or disorder|intestinal cryptosporidiosis|Cryptosporidial gastroenteritis ICD10:A07.2|GARD:0006219|SCTID:66160001|UMLS:C0010418|UMLS:C0520796|Orphanet:1549|MedDRA:10011502|MESH:D003457|NCIT:C128408|ICD9:007.4|DOID:1733 https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis owl:Class UBERON:0000995 biolink:NamedThing uterus the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012833 biolink:NamedThing Crouzon syndrome-acanthosis nigricans syndrome Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). tmpak2llvmy_mondo_relaxed.owl CAN|Crouzon syndrome with acanthosis nigricans|Crouzonodermoskeletal syndrome|Chronic kidney allograft nephropathy|Crouzon-dermoskeletal syndrome|can|chronic allograft nephropathy OMIM:612247|NCIT:C38145|ICD10:Q75.1|Orphanet:93262|MESH:C567382|SCTID:702361006|DOID:0111161 owl:Class MONDO:0005363 biolink:NamedThing focal segmental glomerulosclerosis A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. tmpak2llvmy_mondo_relaxed.owl FGS|FSGS|FSGS - focal segmental glomerulosclerosis|focal glomerulosclerosis|focal glomerular sclerosis|FGS (focal glomerular sclerosis) NCIT:C37308|SCTID:236403004|UMLS:CN043606|ICD9:582.1|EFO:0004236|GARD:0006517|MESH:D005923|DOID:1312|OMIMPS:603278 owl:Class MONDO:0100151 biolink:NamedThing nephropathic cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. tmpak2llvmy_mondo_relaxed.owl Abderhalden Kaufmann Lignac syndrome|cystinosis, nephropathic|Abderhalden-Kaufmann-Lignac syndrome|Abderhalden-Lignac-Kaufmann disease|Abderhalden Lignac Kaufmann disease|CTNS OMIM:219800|NCIT:C129932|MESH:C535335|UMLS:C2930877 owl:Class NCBITaxon:163343 biolink:NamedThing Trichostomatia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:8000004 biolink:NamedThing salmonella discitis Discitis caused by infection with Salmonella. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012437 biolink:NamedThing cataract 21 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene. tmpak2llvmy_mondo_relaxed.owl cataract 21, multiple types, with or without microcornea|cataract 21, multiple types|CCA4|CTRCT21|MAF early-onset non-syndromic cataract|cataract, congenital, cerulean type, 4|cataract 21 multiple types with or without microcornea|early-onset non-syndromic cataract caused by mutation in MAF|cataract, pulverulent, juvenile-onset|congenital cataract cerulean type 4 ICD10:Q12.0|DOID:0110256|MESH:C565703|OMIM:610202 owl:Class MONDO:0007555 biolink:NamedThing epidermolysis bullosa simplex Ogna type Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. tmpak2llvmy_mondo_relaxed.owl EBS-Og|epidermolysis bullosa simplex, Ogna type|EBSOG|EBS-O OMIM:131950|GARD:0002148|ICD9:757.39|Orphanet:79401|MESH:C535962|SCTID:398071000|ICD10:Q81.0|DOID:0060736 https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type owl:Class NCBITaxon:46684 biolink:NamedThing Ascaridia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010951 biolink:NamedThing negative regulation of endopeptidase activity Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020131 biolink:NamedThing malformation of the cerebellar hemispheres tmpak2llvmy_mondo_relaxed.owl Orphanet:98516|ICD10:Q04.3 owl:Class MONDO:0015915 biolink:NamedThing cerebellar malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:182061 owl:Class FOODON:00002452 biolink:NamedThing invertebrate animal Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata. tmpak2llvmy_mondo_relaxed.owl animal owl:Class OBO:CHR_9606-chr16p biolink:NamedThing chr16p (Human) tmpak2llvmy_mondo_relaxed.owl 36800000 0 hg38 owl:Class MONDO:0006600 biolink:NamedThing pigmentation disease tmpak2llvmy_mondo_relaxed.owl disorder of pigmentation SCTID:414032001 This class covers pigmentation disorders of the skin, as well as those affecting the eyes owl:Class MONDO:0014466 biolink:NamedThing Neu-Laxova syndrome 2 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. tmpak2llvmy_mondo_relaxed.owl PSAT1 Neu-Laxova syndrome|NLS2|NEU-Laxova syndrome 2|Neu-Laxova syndrome 2|Neu-Laxova syndrome type 2|Neu-Laxova syndrome caused by mutation in PSAT1 UMLS:C4015019|OMIM:616038|DOID:0080075 owl:Class MONDO:0000179 biolink:NamedThing Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Neu Laxova syndrome|NLS|nuclear localization signal ICD9:759.89|ICD10:Q87.8|OMIMPS:256520|MESH:C536405|NCIT:C14089|GARD:0000102|UMLS:C0265218|Orphanet:2671|SCTID:77817004 owl:Class MONDO:0019717 biolink:NamedThing chromosomal disease with overgrowth tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:93461|UMLS:CN206622 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: chromosomal disorder' MONDO_0019040 owl:Class UBERON:0001556 biolink:NamedThing lower urinary tract Subdivision of urinary system which consists of the urinary bladder and the urethra. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006796 biolink:NamedThing phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. tmpak2llvmy_mondo_relaxed.owl phosphate metabolism|phosphate metabolic process owl:Class MONDO:0017151 biolink:NamedThing pulmonary arterial hypertension associated with connective tissue disease Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. tmpak2llvmy_mondo_relaxed.owl PAH associated with connective tissue disease 2022-03-01 ICD9:416.8|ICD10:I27.2|Orphanet:275798|UMLS:C3697982|SCTID:697903007|UMLS:CN202578|EFO:0009196 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0032917 biolink:NamedThing deafness, autosomal dominant 76 tmpak2llvmy_mondo_relaxed.owl DFNA76|DEAFNESS, AUTOSOMAL DOMINANT 76 OMIM:618787 owl:Class NCBITaxon:10357 biolink:NamedThing Betaherpesvirinae tmpak2llvmy_mondo_relaxed.owl Betaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10292 biolink:NamedThing Herpesviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0071072 biolink:NamedThing negative regulation of phospholipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpak2llvmy_mondo_relaxed.owl down regulation of phospholipid biosynthetic process|negative regulation of phospholipid biosynthesis|down-regulation of phospholipid biosynthetic process|negative regulation of phospholipid synthesis|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|negative regulation of phospholipid anabolism|inhibition of phospholipid biosynthetic process owl:Class GO:1903726 biolink:NamedThing negative regulation of phospholipid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process. tmpak2llvmy_mondo_relaxed.owl down-regulation of phospholipid metabolic process|inhibition of phospholipid metabolism|negative regulation of phospholipid metabolism|down regulation of phospholipid metabolic process|down-regulation of phospholipid metabolism|inhibition of phospholipid metabolic process|down regulation of phospholipid metabolism|downregulation of phospholipid metabolic process|downregulation of phospholipid metabolism owl:Class MONDO:0013414 biolink:NamedThing retinitis pigmentosa 44 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 44|retinitis pigmentosa caused by mutation in RGR|retinitis pigmentosa 44|RP44|RGR retinitis pigmentosa UMLS:C3151068|ICD10:H35.5|OMIM:613769|DOID:0110394 owl:Class GO:0070858 biolink:NamedThing negative regulation of bile acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpak2llvmy_mondo_relaxed.owl negative regulation of bile acid biosynthesis|down-regulation of bile acid biosynthetic process|inhibition of bile acid biosynthetic process|down regulation of bile acid biosynthetic process|downregulation of bile acid biosynthetic process|negative regulation of bile acid formation|negative regulation of bile acid anabolism|negative regulation of bile acid synthesis owl:Class GO:0032880 biolink:NamedThing regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl regulation of protein localisation owl:Class MONDO:0007811 biolink:NamedThing ichthyosis-cheek-eyebrow syndrome Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Sidransky Feinstein Goodman syndrome|Ice syndrome|ichthyosis cheek eyebrow syndrome|Sidransky-Feinstein-Goodman syndrome|ichthyosis--cheek--eyebrow syndrome Orphanet:2267|OMIM:146720|GARD:0002947|SCTID:716097001|MESH:C536084 owl:Class MONDO:0017270 biolink:NamedThing autosomal ichthyosis syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:281217|UMLS:CN202791 owl:Class MONDO:0012909 biolink:NamedThing skeletal defects, genital hypoplasia, and intellectual disability tmpak2llvmy_mondo_relaxed.owl skeletal defects, genital hypoplasia, and intellectual disability|skeletal defects, genital hypoplasia, and mental retardation UMLS:C2676231|MESH:C567306|OMIM:612447 owl:Class CHEBI:22478 biolink:NamedThing amino alcohol An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. tmpak2llvmy_mondo_relaxed.owl amino alcohols|aminoalcohols|aminoalcohol owl:Class UBERON:0011769 biolink:NamedThing cartilaginous projection Anatomical projection that is composed of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl cartilaginous process|cartilage process owl:Class UBERON:0004529 biolink:NamedThing anatomical projection A projection or outgrowth of tissue from a larger body or organ. tmpak2llvmy_mondo_relaxed.owl projection|protrusion|flange|process|papilla|laminae|flanges|ridge|projections|lamina|lamellae|ridges|shelf|processes|organ process|anatomical protrusion|anatomical process|shelves|processus|process of organ|spine|lamella owl:Class MONDO:0019149 biolink:NamedThing cholesteryl ester storage disease Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. tmpak2llvmy_mondo_relaxed.owl CESD|cholesterol ester storage disease SCTID:57218003|Orphanet:75234|UMLS:C0008384|ICD10:E75.5|DOID:14502|GARD:0012099 owl:Class MONDO:0010204 biolink:NamedThing lysosomal acid lipase deficiency Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. tmpak2llvmy_mondo_relaxed.owl lipa deficiency|Wolman disease|lysosomal and lipase deficiency|lysosomal acid lipase deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|LAL deficiency DOID:0080217|Orphanet:275761|ICD10:E75.5|SCTID:715923003|OMIM:278000|GARD:0012097|MESH:C531854 owl:Class CL:0002328 biolink:NamedThing bronchial epithelial cell An epithelial cell of the bronchus. tmpak2llvmy_mondo_relaxed.owl BTO:0002922 tmeehan 2010-09-20T02:00:00Z cell owl:Class CL:0002202 biolink:NamedThing epithelial cell of tracheobronchial tree An epithelial cell of the tracheobronchial tree. tmpak2llvmy_mondo_relaxed.owl FMA:66816 tmeehan 2010-09-02T02:09:14Z CL:1000407 cell owl:Class MONDO:0002862 biolink:NamedThing bile duct sarcoma A sarcoma that involves the bile duct. tmpak2llvmy_mondo_relaxed.owl sarcoma of bile duct|bile duct sarcoma|sarcoma of the bile duct DOID:4064 owl:Class MONDO:0002397 biolink:NamedThing liver sarcoma A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl liver sarcoma|sarcoma of the liver|hepatic sarcoma|sarcoma of liver NCIT:C4437|SCTID:254601002|DOID:270|UMLS:C0345906 owl:Class MONDO:0021525 biolink:NamedThing benign neoplasm of corpus uteri A benign neoplasm that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the uterine body|benign neoplasm of the body of uterus|benign tumor of body of uterus|benign tumor of uterine corpus|benign tumor of the uterine body|benign neoplasm of the corpus uteri|benign corpus uteri tumor|benign neoplasm of uterine body|benign uterine corpus neoplasm|benign tumor of uterine body|benign tumor of the body of uterus|benign neoplasm of the uterine corpus|benign uterine corpus tumor|benign tumor of the uterine corpus|benign uterine body neoplasm|benign tumor of the corpus uteri|benign neoplasm of uterine corpus|body of uterus benign neoplasm|benign tumor of corpus uteri|benign neoplasm of body of uterus|benign uterine body tumor|benign corpus uteri neoplasm UMLS:C0153998|NCIT:C3608|SCTID:92021007|ICD9:219.1 owl:Class MONDO:0008801 biolink:NamedThing anosmia for isobutyric acid tmpak2llvmy_mondo_relaxed.owl anosmia for isobutyric acid OMIM:207000 owl:Class MONDO:0015291 biolink:NamedThing stromal keratitis Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. tmpak2llvmy_mondo_relaxed.owl UMLS:C1318020|ICD10:H16.3|Orphanet:137599 owl:Class MONDO:0015288 biolink:NamedThing herpes simplex virus keratitis A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) tmpak2llvmy_mondo_relaxed.owl Simplexvirus caused keratitis|herpetic keratitis|HSV keratitis|dendritic keratitis|Simplexvirus keratitis Orphanet:137586|EFO:0007308|UMLS:C0022570|UMLS:C0019357|SCTID:9389005|ICD10:B00.5+|NCIT:C34743|ICD10:H19.1*|DOID:0080158 owl:Class MONDO:0018092 biolink:NamedThing Vogt-Koyanagi-Harada disease A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. tmpak2llvmy_mondo_relaxed.owl uveomeningoencephalitic syndrome|Vogt-Koyanagi-Harada syndrome|Uveomenigitic syndrome|VKH syndrome|Vogt-Koyanagi syndrome|Harada's disease|VKH disease ICD10:H20.8|MESH:D014607|Orphanet:3437|ICD10:H20.82|DOID:12297|GARD:0007862|ICD10:H30.8|ICD9:363.22|ICD9:364.24|ICD10:H30.81|NCIT:C85218|UMLS:C0042170|SCTID:193497004 https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease owl:Class MONDO:0021534 biolink:NamedThing rectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl rectal carcinoid|carcinoid tumor of rectum|rectum neuroendocrine neoplasm G1|rectum carcinoid tumor|carcinoid of the rectum|rectal carcinoid tumor|rectal neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of rectum|rectum NET G1|carcinoid tumor of the rectum|rectum neuroendocrine tumor, well differentiated, low grade|carcinoid of rectum|rectum carcinoid tumor (disease)|rectal NET G1 UMLS:C1335678|NCIT:C5547|SCTID:713306000 owl:Class MONDO:0006162 biolink:NamedThing colorectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl colorectal neuroendocrine tumor G1|colorectal carcinoid tumor|colorectal NET G1|grade 1 neuroendocrine neoplasm of colorectum|colorectum neuroendocrine tumor, well differentiated, low grade|colorectum carcinoid tumor|colorectum neuroendocrine neoplasm G1|colorectum NET G1|large intestinal neuroendocrine tumor G1 UMLS:C3272611|NCIT:C96160|EFO:1000195 owl:Class GO:0019212 biolink:NamedThing phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019208 biolink:NamedThing phosphatase regulator activity Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061615 biolink:NamedThing glycolytic process through fructose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH. tmpak2llvmy_mondo_relaxed.owl glycolysis through fructose-6-phosphate owl:Class GO:0006096 biolink:NamedThing glycolytic process The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. tmpak2llvmy_mondo_relaxed.owl glycolysis|modifed Embden-Meyerhof pathway|anaerobic glycolysis|Embden-Meyerhof pathway|Embden-Meyerhof-Parnas pathway owl:Class MONDO:0007588 biolink:NamedThing extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. tmpak2llvmy_mondo_relaxed.owl extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly|Char-Douglas-Dungan syndrome MESH:C565032|Orphanet:1964|OMIM:133750|UMLS:C1851412 owl:Class UBERON:0003323 biolink:NamedThing mesenchyme of upper jaw Mesenchyme that is part of a developing upper jaw [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl palatoquadrate arch mesenchyme|upper jaw mesenchyme|mesenchyme of palatoquadrate arch owl:Class UBERON:0009891 biolink:NamedThing facial mesenchyme Mesenchyme that is part of a developing face. tmpak2llvmy_mondo_relaxed.owl mesenchyme of face|face mesenchyme owl:Class PATO:0000048 biolink:NamedThing hardness A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced tmpak2llvmy_mondo_relaxed.owl toughness|impenetrability owl:Class PATO:0001546 biolink:NamedThing quality of a solid A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. tmpak2llvmy_mondo_relaxed.owl solidity owl:Class GO:0032774 biolink:NamedThing RNA biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. tmpak2llvmy_mondo_relaxed.owl RNA synthesis|RNA anabolism|RNA biosynthesis|RNA formation owl:Class MONDO:0000396 biolink:NamedThing spastic cerebral palsy A form of cerebral palsy wherein spasticity is the exclusive impairment present. tmpak2llvmy_mondo_relaxed.owl hypertonic cerebral palsy SCTID:230773005|UMLS:C0338596|NCIT:C116903|ICD9:344.89|DOID:0050669 owl:Class HGNC:18368 biolink:NamedThing PADI4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000023 biolink:NamedThing infantile liver failure tmpak2llvmy_mondo_relaxed.owl fever-associated acute infantile liver failure syndrome|liver failure, infantile|infantile liver failure syndrome UMLS:CN228161|OMIMPS:615438|Orphanet:464724 OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). owl:Class HGNC:1012 biolink:NamedThing OPN1SW tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5037 biolink:NamedThing Histoplasma capsulatum tmpak2llvmy_mondo_relaxed.owl Emmonsiella capsulata|Cryptococcus capsulatus|Ajellomyces capsulatus GC_ID:1 NCBITaxon:61255 ncbi_taxonomy owl:Class NCIT:C68749 biolink:NamedThing HER2/Neu Negative tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C165233 biolink:NamedThing Expression Negative tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098900 biolink:NamedThing regulation of action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042391 biolink:NamedThing regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000637 biolink:NamedThing outer space Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. tmpak2llvmy_mondo_relaxed.owl space owl:Class MONDO:0006336 biolink:NamedThing ovarian endometrioid adenocarcinoma with squamous differentiation An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. tmpak2llvmy_mondo_relaxed.owl ovarian adenoacanthoma|ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation NCIT:C40061|EFO:1000417 owl:Class MONDO:0006335 biolink:NamedThing ovarian endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. tmpak2llvmy_mondo_relaxed.owl endometrioid cancer of the ovary|ovarian endometrioid adenocarcinoma|ovarian endometrioid carcinoma|ovarian endometrioid cancer|endometrioid ovarian cancer|endometrioid carcinoma ovary|endometrioid carcinoma of the ovary|ovary endometrium adenocarcinoma|endometrioid carcinoma of ovary|endometrium adenocarcinoma of ovary|endometrioid adenocarcinoma of the ovary|endometrioid ovary carcinoma|endometrioid adenocarcinoma of ovary|endometrioid cancer of ovary Orphanet:454723|ONCOTREE:EOV|NCIT:C7979|EFO:1000416|ICD10:C56|UMLS:C0346163|SCTID:254852002|DOID:5828 owl:Class MONDO:0001888 biolink:NamedThing anus lymphoma A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. tmpak2llvmy_mondo_relaxed.owl primary anal lymphoma|anal lymphoma|lymphoma of anus|anus lymphoma|lymphoma of the anus UMLS:C1332268|DOID:14139|NCIT:C5601 owl:Class MONDO:0002166 biolink:NamedThing rectum lymphoma An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl lymphoma of rectum|lymphoma of the rectum|rectum lymphoma|primary rectal lymphoma|rectal lymphoma DOID:1988|UMLS:C1335685|NCIT:C5553 owl:Class MONDO:0006001 biolink:NamedThing urinary schistosomiasis A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. tmpak2llvmy_mondo_relaxed.owl Schistosoma haematobium|Schistosoma haematobium infection|urinary bladder schistosomiasis|cystitis with bilharziasis|schistosomiasis of bladder|Schistosoma hematobium infectious disease|schistosomiasis due to Schistosoma haematobium|urinary schistosomiasis|bladder schistosomiasis|vesical schistosomiasis|Schistosoma hematobium infection|Schistosoma haematobium (& vesical schistosomiasis) EFO:0007530|MESH:D012553|NCIT:C39294|DOID:1394|SCTID:236706006|UMLS:C0276926|ICD9:120.0|UMLS:C1704430 owl:Class GO:0006082 biolink:NamedThing organic acid metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl organic acid metabolism owl:Class MONDO:0023267 biolink:NamedThing goldstein hutt syndrome tmpak2llvmy_mondo_relaxed.owl long eyelashes, cataract, and hereditary spherocytosis|trichomegaly, cataract, and hereditary spherocytosis MESH:C537282|UMLS:C2931465 owl:Class MONDO:0009797 biolink:NamedThing orotic aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. tmpak2llvmy_mondo_relaxed.owl oroticaciduria|orotidylic decarboxylase deficiency|oroticaciduria 1|UMPS|orotic aciduria II (formerly)|OPRT and ODC deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|Umps deficiency|orotic aciduria 1|hereditary orotic aciduria|uridine monophosphate synthase deficiency|orotic aciduria without megaloblastic Anemia|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotic aciduria|uridine monophosphate synthetase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|orotic aciduria type 1|Ump synthase deficiency|UMP synthtase deficiency GARD:0005429|OMIM:258900|Orphanet:30|NCIT:C98944|MedDRA:10052621|DOID:0050833|ICD10:E79.8|SCTID:47641009 owl:Class MONDO:0020112 biolink:NamedThing vitamin B12- and folate-independent constitutional megaloblastic anemia tmpak2llvmy_mondo_relaxed.owl ICD10:D53.2|ICD10:D53.1|ICD10:D53.9|ICD10:D53.0|Orphanet:98415|ICD10:D53.8 owl:Class MONDO:0009206 biolink:NamedThing factor V and factor VIII, combined deficiency of, type 1 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. tmpak2llvmy_mondo_relaxed.owl familial multiple coagulation Factor deficiency 1|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor V and factor VIII, combined deficiency of, 1|multiple coagulation Factor deficiency 1|factor 5 and Factor VIII, combined deficiency of, 1|factor V and factor VIII, combined deficiency of, type 1|LMAN1 combined deficiency of factor V and factor VIII|FMFD 1|F5F8D1 SCTID:84048006|OMIM:227300 owl:Class MONDO:0010344 biolink:NamedThing intellectual disability, X-linked 45 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked type 45|mental retardation, X-linked 45|MRX45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|ZNF81 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 45|intellectual disability, X-linked 45 OMIM:300498|UMLS:C1845333|MESH:C564503 owl:Class UBERON:0009972 biolink:NamedThing ureteropelvic junction The junction between the ureter and the renal pelvis of the kidney tmpak2llvmy_mondo_relaxed.owl pelviureteric junction|pelvoureteric junction owl:Class NCBITaxon:716546 biolink:NamedThing leotiomyceta tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044704 biolink:NamedThing oropharynx squamous cell carcinoma A squamous cell carcinoma that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the oropharynx|squamous cell carcinoma of oropharynx|epidermoid carcinoma of oropharynx|squamous cell carcinoma of the oropharynx|oropharyngeal epidermoid carcinoma|oropharyngeal throat squamous cell cancer|oropharyngeal squamous cell carcinoma ONCOTREE:OPHSC|NCIT:C8181|Orphanet:500478 owl:Class MONDO:0013343 biolink:NamedThing C1Q deficiency C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. tmpak2llvmy_mondo_relaxed.owl C1q deficiency|C1QD|C1Q deficiency NCIT:C119990|OMIM:613652|UMLS:C3150902|GARD:0012958 https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency owl:Class SO:0001411 biolink:NamedThing biological_region A region defined by its disposition to be involved in a biological process. tmpak2llvmy_mondo_relaxed.owl biological region|INSDC_misc_feature|INSDC_note:biological_region owl:Class HGNC:30032 biolink:NamedThing PACS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900048 biolink:NamedThing positive regulation of hemostasis Any process that activates or increases the frequency, rate or extent of hemostasis. tmpak2llvmy_mondo_relaxed.owl up regulation of hemostasis|activation of hemostasis|up-regulation of hemostasis|upregulation of hemostasis owl:Class UBERON:0000990 biolink:NamedThing reproductive system Anatomical system that has as its parts the organs concerned with reproduction. tmpak2llvmy_mondo_relaxed.owl Geschlechtsorgan|animal reproductive system|systemata genitalia|genital system|organa genitalia|genital tract|genitalia|reproductive tract|reproductive tissue owl:Class UBERON:0010077 biolink:NamedThing cuboidal epithelium An epithelium consisting of cuboidal epithelial cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009647 biolink:NamedThing tympanic membrane epithelium One of the two epithelia which make up the tympanic membrane (along with the fibrous layer) tmpak2llvmy_mondo_relaxed.owl tympanic epithelium|tympanic membrane epithelial layer owl:Class GO:1903551 biolink:NamedThing regulation of extracellular exosome assembly Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. tmpak2llvmy_mondo_relaxed.owl regulation of extracellular vesicular exosome assembly owl:Class GO:1902115 biolink:NamedThing regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000216 biolink:NamedThing positive regulation of proline metabolic process Any process that activates or increases the frequency, rate or extent of proline metabolic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of proline metabolism owl:Class MONDO:0012198 biolink:NamedThing PCWH syndrome Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. tmpak2llvmy_mondo_relaxed.owl peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|WS4 plus|PCWH|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|Waardenburg-Shah syndrome, neurologic variant Orphanet:163746|UMLS:CN239463|ICD10:E75.2|UMLS:C1836727|OMIM:609136|DOID:0090111|MESH:C563789 owl:Class GO:1903580 biolink:NamedThing positive regulation of ATP metabolic process Any process that activates or increases the frequency, rate or extent of ATP metabolic process. tmpak2llvmy_mondo_relaxed.owl activation of ATP metabolic process|positive regulation of ATP metabolism|activation of ATP metabolism|upregulation of ATP metabolic process|up regulation of ATP metabolism|up-regulation of ATP metabolism|upregulation of ATP metabolism|up-regulation of ATP metabolic process|up regulation of ATP metabolic process owl:Class MONDO:0020488 biolink:NamedThing atypical progressive supranuclear palsy syndrome Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). tmpak2llvmy_mondo_relaxed.owl atypical PSP syndrome Orphanet:99750|ICD10:G23.1 owl:Class MONDO:0043099 biolink:NamedThing Hordnes Engebretsen Knudtson syndrome tmpak2llvmy_mondo_relaxed.owl acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability UMLS:C2931100|MESH:C536067|GARD:0002736 owl:Class MONDO:0034147 biolink:NamedThing neonatal epileptic encephalopathy due to glutaminase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:557064 owl:Class HP:0001824 biolink:NamedThing Weight loss Reduction of total body weight. tmpak2llvmy_mondo_relaxed.owl Loss of weight SNOMEDCT_US:161832001|SNOMEDCT_US:89362005|MSH:D015431|SNOMEDCT_US:262285001|UMLS:C1262477 human_phenotype owl:Class NCBITaxon:4827 biolink:NamedThing Mucorales tmpak2llvmy_mondo_relaxed.owl pin molds GC_ID:1|PMID:17572334|PMID:12684019|PMID:17051209|PMID:17486964|PMID:14715234 ncbi_taxonomy owl:Class NCBITaxon:2212703 biolink:NamedThing Mucoromycetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016933 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 12 tmpak2llvmy_mondo_relaxed.owl partial duplication/triplication of chromosome 12p|partial duplication/triplication of the short arm of chromosome 12|partial trisomy/tetrasomy of chromosome 12p|partial trisomy/tetrasomy of the short arm of chromosome type 12 Orphanet:262658 owl:Class GO:0099094 biolink:NamedThing ligand-gated cation channel activity Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005261 biolink:NamedThing cation channel activity Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. tmpak2llvmy_mondo_relaxed.owl cation diffusion facilitator activity|non-selective cation channel activity owl:Class MONDO:0005853 biolink:NamedThing malignant mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. tmpak2llvmy_mondo_relaxed.owl tumor, malignant mixed|mixed tumor|mixed neoplasm|mixed tumor, malignant|mixed neoplasm, malignant|malignant mixed cancer|mixed cell type cancer|malignant mixed tumors|mixed tumors, malignant|tumors, malignant mixed|mixed tumor, malignant, NOS (morphologic abnormality)|malignant mixed neoplasm|malignant mixed tumor|tumor, mixed, malignant|mixed tumor, malignant (morphologic abnormality) UMLS:C0206625|DOID:154|ICDO:8940/3|EFO:1000356|MESH:D018198|EFO:0007373|NCIT:C3729 owl:Class MONDO:0017826 biolink:NamedThing null pituitary adenoma tmpak2llvmy_mondo_relaxed.owl Orphanet:314790|ICD10:D35.2|UMLS:CN203796 owl:Class MONDO:0019613 biolink:NamedThing non-functioning pituitary adenoma A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl functionless adenoma of the pituitary|non-functioning adenoma of pituitary|non-secretory adenoma of pituitary gland|non-functioning adenoma of pituitary gland|non-secretory adenoma of the pituitary gland|nonfunctional pituitary gland adenoma|non-functioning adenoma of the pituitary|silent pituitary gland adenoma|non-secretory adenoma of the pituitary|functionless adenoma of pituitary gland|non-functioning pituitary gland adenoma|non-secretory pituitary gland adenoma|non-secretory adenoma of pituitary|functionless pituitary gland adenoma|functionless adenoma of the pituitary gland|non-functioning pituitary adenoma|non-functioning adenoma of the pituitary gland|NFPA|functionless adenoma of pituitary|non-secretory pituitary adenoma|functionless pituitary adenoma NCIT:C4348|DOID:5715|EFO:0008516|ICD10:D35.2|Orphanet:91349|SCTID:254962005 owl:Class UBERON:0003523 biolink:NamedThing manus blood vessel A blood vessel that is part of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand blood vessel|blood vessel of hand|blood vessel of manus owl:Class MONDO:0004469 biolink:NamedThing pseudovascular skin squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl skin pseudovascular squamous cell carcinoma|pseudovascular skin squamous cell carcinoma NCIT:C27542|DOID:8122|UMLS:C1335974 owl:Class MONDO:0010360 biolink:NamedThing parkinson disease 12 tmpak2llvmy_mondo_relaxed.owl Parkinson disease, X-linked|Parkinson disease 12|PARK12 MESH:C564486|UMLS:C1845165|OMIM:300557 owl:Class MONDO:0017279 biolink:NamedThing young-onset Parkinson disease A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. tmpak2llvmy_mondo_relaxed.owl early-onset Parkinson's disease|YOPD|early-onset Parkinson disease DOID:0060894|SCTID:715345007|ICD10:G20|Orphanet:2828 owl:Class HP:0002076 biolink:NamedThing Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. tmpak2llvmy_mondo_relaxed.owl Migraine headaches|Intermittent migraine headaches|Migraine headache|Migraine MSH:D008881|UMLS:C0149931|UMLS:C0744641|SNOMEDCT_US:37796009 HP:0007194 human_phenotype owl:Class HP:0002315 biolink:NamedThing Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. tmpak2llvmy_mondo_relaxed.owl Headaches|Headache MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0001354|HP:0000266 human_phenotype owl:Class MONDO:0004977 biolink:NamedThing angioimmunoblastic T-cell lymphoma A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. tmpak2llvmy_mondo_relaxed.owl AILT|angioimmunoblastic lymphadenopathy|T-cell lymphoma, AILD type|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic T-cell lymphoma|AILD|angioimmunoblastic lymphadenopathy type T-cell lymphoma|AITL|lymphogranulomatosis X|immunoblastic lymphadenopathy GARD:11973|ICDO:9705/3|Orphanet:86886|MEDDRA:10002449|ICD10:C86.5|UMLS:C0020981|ONCOTREE:AITL|ICDO:9767/1|EFO:0000255|DOID:0111147|MedDRA:10002449|MESH:D007119|ICD9:202.70|SCTID:413537009|GARD:0011973|NCIT:C7528 https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma owl:Class MONDO:0000430 biolink:NamedThing mature T-cell and NK-cell non-Hodgkin lymphoma This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma. tmpak2llvmy_mondo_relaxed.owl mature T-cell non-Hodgkin's lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|PTCL|mature T-cell and NK-cell non-Hodgkin lymphoma|peripheral T-cell lymphoma|NK-T cell lymphoma|mature T-cell and natural killer cell lymphoma|mature T-and NK-cell lymphoma|mature T-cell lymphoma|mature T-cell and NK-cell lymphoma DOID:0050743|ICDO:9702/3|MESH:D016411|ICD10:C84.4|GARD:0007368|NCIT:C3468|SCTID:109977009|DOID:0050749 https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma owl:Class MONDO:0024466 biolink:NamedThing facial paresis, hereditary congenital, 1 tmpak2llvmy_mondo_relaxed.owl Moebius syndrome 2|Mobius syndrome 2, formerly|facial palsy, congenital, unilateral or bilateral|facial paresis, hereditary congenital, 1|Moebius syndrome 2, formerly|Mobius syndrome 2|HCFP1 UMLS:C1832284|OMIM:601471 owl:Class MONDO:0011090 biolink:NamedThing isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. tmpak2llvmy_mondo_relaxed.owl hereditary congenital facial paresis|facial palsy, congenital, unilateral or bilateral|Mobius syndrome 2 (formerly)|Moebius syndrome 2 (formerly)|facial paresis, hereditary congenital|HCFP|facial paresis hereditary congenital|MBS2 (formerly) Orphanet:306527|OMIMPS:601471|SCTID:733091002|GARD:0008583|MESH:C563309|UMLS:C4518577|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis owl:Class MONDO:0016611 biolink:NamedThing lipoblastoma A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. tmpak2llvmy_mondo_relaxed.owl embryonic lipoma|fetal lipoma|infantile lipoma Orphanet:247762|MESH:D062689|SCTID:400102008|GARD:0012015|UMLS:C1260965|NCIT:C27483 https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma owl:Class GO:2001235 biolink:NamedThing positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. tmpak2llvmy_mondo_relaxed.owl positive regulation of apoptotic signalling pathway owl:Class GO:0043065 biolink:NamedThing positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. tmpak2llvmy_mondo_relaxed.owl upregulation of apoptosis|up-regulation of apoptosis|pro-apoptosis|positive regulation of apoptosis|activation of apoptosis|stimulation of apoptosis|up regulation of apoptosis owl:Class MONDO:0004901 biolink:NamedThing lingual-facial-buccal dyskinesia Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. tmpak2llvmy_mondo_relaxed.owl oro-facial dyskinesia UMLS:C0152115|SCTID:49386006|DOID:9854|ICD9:333.82|ICD10:G24.4 owl:Class MONDO:0009474 biolink:NamedThing isovaleric acid, inability to smell tmpak2llvmy_mondo_relaxed.owl isovaleric acid, inability to smell OMIM:243450 owl:Class GO:0098857 biolink:NamedThing membrane microdomain A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016020 biolink:NamedThing membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. tmpak2llvmy_mondo_relaxed.owl region of membrane|membrane region|whole membrane owl:Class UBERON:0004766 biolink:NamedThing cranial bone A bone that is part of a cranium. tmpak2llvmy_mondo_relaxed.owl cranium bone owl:Class UBERON:0003457 biolink:NamedThing head bone A bone that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone organ of head|craniofacial bone|adult head bone organ|bone organ of adult head|bone of head|adult head bone|bone of adult head|head bone organ owl:Class GO:1903797 biolink:NamedThing positive regulation of inorganic anion transmembrane transport Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl up-regulation of inorganic anion membrane transport|positive regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|up regulation of transmembrane inorganic anion transport|upregulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|up regulation of inorganic anion membrane transport|positive regulation of inorganic anion membrane transport|activation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|up-regulation of inorganic anion transmembrane transport|up regulation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|up-regulation of transmembrane inorganic anion transport owl:Class GO:1903795 biolink:NamedThing regulation of inorganic anion transmembrane transport Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl regulation of transmembrane inorganic anion transport|regulation of inorganic anion membrane transport owl:Class MONDO:0003386 biolink:NamedThing bladder clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. tmpak2llvmy_mondo_relaxed.owl urinary bladder clear cell adenocarcinoma|bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma|clear cell adenocarcinoma of urinary bladder UMLS:C1332557|DOID:5306|NCIT:C6179 owl:Class HP:0002789 biolink:NamedThing Tachypnea Very rapid breathing. tmpak2llvmy_mondo_relaxed.owl Polypnea|Increased respiratory rate or depth of breathing MSH:D059246|SNOMEDCT_US:271823003|UMLS:C0231835 In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. HP:0002874|HP:0004346 human_phenotype owl:Class HP:0002793 biolink:NamedThing Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. tmpak2llvmy_mondo_relaxed.owl Unusual breathing patterns|Abnormal respiratory patterns|Abnormal pattern of respiration UMLS:C1837388 human_phenotype owl:Class MONDO:0007642 biolink:NamedThing isolated agenesis of gallbladder tmpak2llvmy_mondo_relaxed.owl gallbladder, agenesis OF OMIM:137040|ICD10:Q44.0|Orphanet:440987|MESH:C562564 owl:Class MONDO:0013602 biolink:NamedThing paragangliomas 5 Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene. tmpak2llvmy_mondo_relaxed.owl SDHA paraganglioma|PGL5|paragangliomas type 5|paraganglioma caused by mutation in SDHA|paragangliomas 5 OMIM:614165|UMLS:C3279992 owl:Class MONDO:0006962 biolink:NamedThing sebaceous adenocarcinoma An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpak2llvmy_mondo_relaxed.owl carcinoma of the sebaceous gland|sebaceous gland adenocarcinoma|carcinoma of sebaceous gland|sebaceous cancer|malignant sebaceous tumor|adenocarcinoma, sebaceous, malignant|adenocarcinoma of the sebaceous gland|sebaceous gland carcinoma|sebaceous carcinoma|Seba SCTID:307599002|ICD10:C44|ICDO:8410/3|NCIT:C40310|ONCOTREE:SEBA|MESH:D018266|UMLS:C0206684|DOID:4839|DOID:4840|EFO:1001171 owl:Class MONDO:0037735 biolink:NamedThing sebaceous gland cancer A cancer that involves the sebaceous gland. tmpak2llvmy_mondo_relaxed.owl malignant sebaceous gland neoplasm|malignant sebaceous gland tumor|malignant tumor of sebaceous gland|malignant sebaceous neoplasm|malignant sebaceous tumor|malignant neoplasm of sebaceous gland|malignant neoplasm of the sebaceous gland|malignant tumor of the sebaceous gland|cancer of sebaceous gland NCIT:C8409|UMLS:C1382026 owl:Class MONDO:0019627 biolink:NamedThing isolated congenital alacrima Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. tmpak2llvmy_mondo_relaxed.owl nonsyndromic congenital alacrima Orphanet:91416|UMLS:C4273963|ICD10:Q10.6|SCTID:717262004 owl:Class MONDO:0020194 biolink:NamedThing congenital alacrima tmpak2llvmy_mondo_relaxed.owl Orphanet:98604 owl:Class MONDO:0022818 biolink:NamedThing congenital aneurysms of the great vessels tmpak2llvmy_mondo_relaxed.owl GARD:0001472 https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels owl:Class CL:0000325 biolink:NamedThing stuff accumulating cell A cell that is specialised to accumulate a particular substance(s). tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0024414 biolink:NamedThing anaerobic cellulitis tmpak2llvmy_mondo_relaxed.owl anaerobic cellulitis UMLS:C0241828|ICD9:041.84|SCTID:238401006|ICD9:682.9 owl:Class MONDO:0007055 biolink:NamedThing acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. tmpak2llvmy_mondo_relaxed.owl acromicric dysplasia|acromicric skeletal dysplasia|ACMICD ICD10:Q77.8|DOID:0111243|OMIM:102370|MESH:C535662|SCTID:254090007|Orphanet:969|GARD:0000007|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia owl:Class MONDO:0003164 biolink:NamedThing cauda equina neoplasm A neoplasm involving a cauda equina. tmpak2llvmy_mondo_relaxed.owl neoplasm of cauda equina|tumor of Cauda equina|Cauda equina neoplasms|cauda equina tumor|tumor of cauda equina|neoplasm of the Cauda equina|cauda equina neoplasm (disease)|tumor of the Cauda equina DOID:4847|SCTID:126963001|UMLS:C1263892|NCIT:C5479 owl:Class CL:1000326 biolink:NamedThing ileal goblet cell A goblet cell that is part of the epithelium proper of ileum. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium proper of ileum FMA:263067 cell owl:Class GO:0033005 biolink:NamedThing positive regulation of mast cell activation Any process that activates or increases the frequency, rate, or extent of mast cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010533 biolink:NamedThing Arts syndrome Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. tmpak2llvmy_mondo_relaxed.owl syndromic X-linked intellectual disability Arts type|syndromic X-linked intellectual disability 18|Arts|MRXSARTS|intellectual disability, X-linked, syndromic 18|syndromic X-linked mental retardation 18|lethal ataxia-deafness-optic atrophy|lethal ataxia with deafness and optic atrophy|mental retardation, X-linked, syndromic, Arts type|intellectual disability, X-linked, syndromic, Arts type|fatal X-linked ataxia with deafness and loss of vision|MRXS18|Arts syndrome|ataxia, fatal X-linked, with deafness and loss of vision|syndromic X-linked mental retardation Arts type|X-linked fatal ataxia with deafness and loss of vision|mental retardation, X-linked, syndromic 18 DOID:0050647|Orphanet:1187|UMLS:C0796028|MESH:C535388|OMIM:301835|ICD10:E79.8|GARD:0008756|ICD9:277.2|SCTID:702441001 https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome owl:Class MONDO:0018531 biolink:NamedThing carcinoma of liver and intrahepatic biliary tract A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. tmpak2llvmy_mondo_relaxed.owl primary liver carcinoma|carcinoma of liver|hepatic cancer|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|liver and intrahepatic biliary tract cancer|cancer of the liver|liver/hepatobiliary cancer|liver carcinoma|cancer of liver and intrahepatic biliary tract|cancer of the liver and intrahepatic biliary tract|cancer of liver|carcinoma of liver and IBT|liver cancer|liver and intrahepatic biliary tract carcinoma|liver and intrahepatic bile duct cancer|liver and intrahepatic bile duct carcinoma Orphanet:424936|ONCOTREE:HCCIHCH|NCIT:C7927|UMLS:C0279000 Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper owl:Class UBERON:0001143 biolink:NamedThing hepatic vein Vein that carries blood away from the liver[ZFA]. tmpak2llvmy_mondo_relaxed.owl venae hepaticae|hepatic veins|liver vein|vein of liver|vena hepatica owl:Class UBERON:0015796 biolink:NamedThing liver blood vessel A blood vessel that is part of a liver. tmpak2llvmy_mondo_relaxed.owl hepatic blood vessel owl:Class MONDO:0012515 biolink:NamedThing glaucoma 1, open angle, M tmpak2llvmy_mondo_relaxed.owl JOAG1M|GLC1M|glaucoma 1, open angle, M OMIM:610535|UMLS:C1864653|MESH:C566436 owl:Class MONDO:0013789 biolink:NamedThing DDOST-CDG DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 1r|DDOST-CDG|carbohydrate deficient glycoprotein syndrome type|carbohydrate deficient glycoprotein syndrome type Ir|CDG syndrome type Ir|CDG-Ir|DDOST-CDG (CDG-Ir)|congenital disorder of glycosylation type Ir|congenital disorder of glycosylation, type Ir|CDG1R ICD10:E77.8|Orphanet:300536|DOID:0080569|GARD:0012398|SCTID:733083006|UMLS:C3281084|OMIM:614507 owl:Class MONDO:0010327 biolink:NamedThing HSD10 mitochondrial disease HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl MRXS10|mental retardation, X-linked, syndromic type 10|chorioathetosis with mental retardation and abnormal behavior|HSD17B10 deficiency|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|3H2MBD deficiency|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|mental retardation, X-linked syndromic 10|HSD10 deficiency|syndromic X-linked intellectual disability type 10|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|17-beta-hydroxysteroid dehydrogenase X deficiency|2M3HBA|mental retardation with chorioathetosis and abnormal behavior|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|2-methyl-3-hydroxybutyric aciduria|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|HSD10MD|mental retardation, X-linked, syndromic 10|HSD10 deficiency, atypical type|17-beta-hydroxysteroid dehydrogenase 10 deficiency|MHBD deficiency|HSD10 mitochondrial disease|hydroxyacyl-CoA dehydrogenase II deficiency ICD10:E72.8|SCTID:791000124107|OMIM:300220|UMLS:C1846168|OMIM:300438|ICD10:G25.5|UMLS:CN204973|MESH:C536080|GARD:0010716|Orphanet:391417|MESH:C564560|DOID:0060810 owl:Class MONDO:0006268 biolink:NamedThing liver diffuse large B-cell lymphoma A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver. tmpak2llvmy_mondo_relaxed.owl hepatic diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver|liver diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|primary hepatic diffuse large B-cell lymphoma EFO:1000323|UMLS:C2184126|NCIT:C96843 owl:Class MONDO:0004830 biolink:NamedThing fasciitis Inflammation process in fascia. tmpak2llvmy_mondo_relaxed.owl fascia inflammation|fasciitis (disease)|fasciitis|Fascitis|inflammation of fascia fasciitis (disease) NCIT:C50559|HP:0100537|ICD9:729.4|ICD10:M72.9|DOID:9598|SCTID:36948007|MESH:D005208|UMLS:C0015645 owl:Class MONDO:0003900 biolink:NamedThing connective tissue disease A disease involving the connective tissue. tmpak2llvmy_mondo_relaxed.owl connective tissue disorders|primary disorder of connective tissue|disease or disorder of connective tissue|disease of connective tissue|connective tissue disease|disease, connective tissue|disorder of connective tissue|tissue disease, connective|connective tissue disorder|connective tissue diseases|connective tissue disease or disorder SCTID:105969002|UMLS:C0009782|DOID:65|MESH:D003240|NCIT:C26729 Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0006732 biolink:NamedThing drug-induced dyskinesia Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) tmpak2llvmy_mondo_relaxed.owl SCTID:102448004|ICD9:333.99|MedDRA:10013916|MESH:D004409|EFO:1000904|GARD:0008236 owl:Class MONDO:0001747 biolink:NamedThing tibial collateral ligament bursitis tmpak2llvmy_mondo_relaxed.owl SCTID:44245003|UMLS:C0158315|DOID:13566|ICD9:726.62 owl:Class MONDO:0002494 biolink:NamedThing substance-related disorder A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). tmpak2llvmy_mondo_relaxed.owl substance-related disorder DOID:303|MESH:D019966|NCIT:C92203 owl:Class NCBITaxon:72274 biolink:NamedThing Pseudomonadales tmpak2llvmy_mondo_relaxed.owl gamma-3 proteobacteria|Pseudomonaceae/Moraxellaceae group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012654 biolink:NamedThing atrial septal defect 4 Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in TBX20|atrial septal defect 4|atrial septal defect type 4|TBX20 atrial heart septal defect|atrial heart septal defect type 4|ASD4 MESH:C566963|DOID:0110109|UMLS:C1969657|ICD10:Q21.1|OMIM:611363 owl:Class MONDO:0030089 biolink:NamedThing diabetes mellitus, permanent neonatal 4 tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, permanent neonatal 4|PNDM4|DIABETES MELLITUS, PERMANENT NEONATAL 4 OMIM:618858 owl:Class MONDO:0100164 biolink:NamedThing permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. tmpak2llvmy_mondo_relaxed.owl PNDM|diabetes mellitus, permanent, of infancy|permanent diabetes mellitus of infancy|diabetes mellitus, permanent neonatal|monogenic diabetes of infancy|diabetes mellitus, permanent neonatal, with neurologic features|PDMI|developmental delay, epilepsy, and neonatal diabetes GARD:0010457|Orphanet:99885|DOID:0060639|SCTID:609565001|UMLS:C1833104|ICD10:P70.2|OMIMPS:606176|NCIT:C114902 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus owl:Class MONDO:0033485 biolink:NamedThing short-rib thoracic dysplasia 19 with or without polydactyly tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 19 with or without polydactyly|SRTD19 OMIM:617895|UMLS:CN842245|DOID:0080295 owl:Class MONDO:0011751 biolink:NamedThing COPD, severe early onset tmpak2llvmy_mondo_relaxed.owl pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset|pulmonary disease, chronic obstructive, rate of decline of lung function 1N|pulmonary disease, chronic obstructive|COPD OMIM:606963 Editor note: consider merging to parent owl:Class MONDO:0004653 biolink:NamedThing atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl atypical chronic myeloid leukemia|subacute myelogenous leukemia|subacute granulocytic leukemia|atypical CML|subacute myeloid leukemia|aCML|atypical chronic myeloid leukemia, BCR-ABL1 Negative NCIT:C3519|SCTID:277589003|DOID:8747|ICDO:9876/3 owl:Class MONDO:0004643 biolink:NamedThing myeloid leukemia A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. tmpak2llvmy_mondo_relaxed.owl non-lymphoblastic leukemia|leukemia myeloid|myeloid leukemia|non-lymphocytic leukemia|leukemia myelogenous|leukemia, granulocytic, malignant|leukemia granulocytic|myeloid granulocytic leukemia|myelocytic leukemia|myelogenous leukemia ICD10:C92|NCIT:C3172|UMLS:C0023470|ICD9:205.90|ICDO:9860/3|GARD:0008226|DOID:8692|ICD10:C92.90|ICD9:205.9|SCTID:188732008|ICD9:205.80|ICD9:205|MESH:D007951|ICD10:C92.9 https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia owl:Class MONDO:0016013 biolink:NamedThing fetal methylmercury syndrome Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. tmpak2llvmy_mondo_relaxed.owl Minamata disease|Methyl mercury antenatal infection|Methyl mercury antenatal exposure GARD:0003575|ICD9:759.89|SCTID:62110005|ICD10:T56.1|Orphanet:1917|MESH:D020262 https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome owl:Class MONDO:0007671 biolink:NamedThing fibronectin glomerulopathy Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. tmpak2llvmy_mondo_relaxed.owl glomerulopathy with fibronectin deposits 1|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 2|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with giant fibrillar deposits|fibronectin glomerulopathy|GFND1|glomerulopathy with fibronectin deposits|GFND2|GFND ICD10:N07.6|MESH:C536826|OMIMPS:137950|GARD:0009268|SCTID:236535001|MESH:C562900|Orphanet:84090 Editor note: consider splitting out type 1, and also separate class for giant subtype https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 owl:Class HP:0004364 biolink:NamedThing Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025336 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. peter 2008-03-17T04:51:00Z human_phenotype owl:Class ECTO:9000019 biolink:NamedThing exposure to acetic acid An exposure to acetic acid. tmpak2llvmy_mondo_relaxed.owl exposure to acetic acid owl:Class UBERON:0005609 biolink:NamedThing iliac artery Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000351 biolink:NamedThing disorder of methionine catabolism An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of methionine catabolic process|inborn methionine catabolic process disorder|inborn error of methionine catabolic process|hypermethioninemia HP:0003235|UMLS:C4048705|DOID:0050544|SCTID:43123004 owl:Class MONDO:0037938 biolink:NamedThing inborn disorder of aspartate family metabolism An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn error of aspartate family amino acid metabolic process|rare inborn error of aspartate family amino acid metabolic process|inborn aspartate family amino acid metabolic process disorder owl:Class MONDO:0018309 biolink:NamedThing Hirschsprung disease Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. tmpak2llvmy_mondo_relaxed.owl pelvirectal achalasia|congenital intestinal aganglionosis|HSCR|Hirschsprung disease susceptibility|Hirschsprung disease|Hirschsprung's disease|congenital megacolon|macrocolon|aganglionic megacolon UMLS:C3661523|DOID:10487|GARD:0006660|ICD10:Q43.1|SCTID:204739008|UMLS:C0019569|MESH:D006627|OMIMPS:142623|NCIT:C34700|MedDRA:10010539|Orphanet:388 owl:Class MONDO:0017515 biolink:NamedThing brachydactyly of fingers, unilateral tmpak2llvmy_mondo_relaxed.owl short fingers, unilateral Orphanet:295128|ICD10:Q71.8 owl:Class MONDO:0017451 biolink:NamedThing non-syndromic brachydactyly of fingers A non-syndromic brachydactyly that involves the manus. tmpak2llvmy_mondo_relaxed.owl manus non-syndromic brachydactyly|short fingers|non-syndromic brachydactyly of manus Orphanet:294996|ICD10:Q71.8 owl:Class HGNC:16877 biolink:NamedThing MFN2 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411261 biolink:NamedThing fungus A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. tmpak2llvmy_mondo_relaxed.owl fungi owl:Class FOODON:03411564 biolink:NamedThing food product organismal source This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009422 biolink:NamedThing hypohidrosis with abnormal palmar dermal Ridges tmpak2llvmy_mondo_relaxed.owl hypohidrosis with abnormal palmar dermal Ridges|sweat gland hypoplasia MESH:C565481|UMLS:C1855856|OMIM:241120 owl:Class HGNC:4017 biolink:NamedThing FUT6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045702 biolink:NamedThing positive regulation of spermatid nuclear differentiation Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of spermatid nuclear differentiation|upregulation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|up-regulation of spermatid nuclear differentiation owl:Class MONDO:0017036 biolink:NamedThing Langerhans cell histiocytosis in childhood and adulthood tmpak2llvmy_mondo_relaxed.owl histiocytosis X in childhood and adulthood|Langerhans cell granulomatosis in childhood and adulthood Orphanet:264955 Editor note: check semantics owl:Class MONDO:0017035 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a systemic disease tmpak2llvmy_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic disease 2022-03-01 Orphanet:264949|UMLS:CN202347 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class UBERON:0002190 biolink:NamedThing subcutaneous adipose tissue A portion of adipose tissue that is part of the hypodermis, beneath the dermis. tmpak2llvmy_mondo_relaxed.owl hypodermis fat layer|panniculus adiposus (tela subcutanea)|fatty layer of superficial fascia|panniculus adiposus|fatty layer of subcutaneous tissue|panniculus adiposus telae subcutaneae|subcutaneous fat layer|subcutaneous fat owl:Class GO:0051052 biolink:NamedThing regulation of DNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpak2llvmy_mondo_relaxed.owl regulation of DNA metabolism owl:Class GO:0019219 biolink:NamedThing regulation of nucleobase-containing compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism owl:Class MONDO:0100137 biolink:NamedThing telomere syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. tmpak2llvmy_mondo_relaxed.owl short telomere syndrome|STS owl:Class MONDO:0005662 biolink:NamedThing balantidiasis Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. tmpak2llvmy_mondo_relaxed.owl large-intestinal infection with Balantidium coli|B coli infection|Balantidium coli infection|ciliary dysentery|Balantidiases|balantidiosis|Human balantidiasis ICD10:A07.0|SCTID:57725006|NCIT:C84583|UMLS:C0004692|MESH:D001447|GARD:0000809|Orphanet:1223|DOID:12386|MedDRA:10004080|EFO:0007163|ICD9:007.0 https://rarediseases.info.nih.gov/diseases/809/balantidiasis owl:Class MONDO:0003466 biolink:NamedThing spindle cell synovial sarcoma A synovial sarcoma characterized by the presence of a spindle cell component only. tmpak2llvmy_mondo_relaxed.owl synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous UMLS:C0334505|DOID:5487|ICDO:9041/3|NCIT:C4277 owl:Class MONDO:0016739 biolink:NamedThing yolk sac tumor of central nervous system A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) tmpak2llvmy_mondo_relaxed.owl intracranial yolk sac tumor|yolk sac tumor of CNS|intracranial endodermal sinus tumor|central nervous system yolk Sac tumor|yolk Sac tumor of CNS|yolk Sac tumor of central nervous system|endodermal sinus tumor of central nervous system|yolk Sac tumor of the CNS|yolk Sac tumor of the central nervous system|CNS yolk Sac tumor|endodermal sinus tumor of CNS UMLS:CN201987|Orphanet:252006|NCIT:C7011 owl:Class MONDO:0016738 biolink:NamedThing primary germ cell tumor of central nervous system tmpak2llvmy_mondo_relaxed.owl primary germ cell tumor of CNS UMLS:CN201986|Orphanet:251995 owl:Class NCBITaxon:12058 biolink:NamedThing Picornaviridae tmpak2llvmy_mondo_relaxed.owl Picornavirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:464095 biolink:NamedThing Picornavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017629 biolink:NamedThing sodium channelopathy-related small fiber neuropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:306577 owl:Class MONDO:0021016 biolink:NamedThing channelopathy A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. tmpak2llvmy_mondo_relaxed.owl ion channel activity disease|disorder of ion channel activity UMLS:C1720983|MESH:D053447 owl:Class PATO:0000587 biolink:NamedThing decreased size A size quality which is relatively low. tmpak2llvmy_mondo_relaxed.owl underdeveloped|hypoplasia|tiny|small|reduced owl:Class PATO:0000117 biolink:NamedThing size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000726 biolink:NamedThing negative regulation of cardiac muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl negative regulation of cardiomyocyte differentiation|negative regulation of heart muscle cell differentiation owl:Class GO:1905208 biolink:NamedThing negative regulation of cardiocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of cardiocyte differentiation|down regulation of heart cell differentiation|downregulation of heart cell differentiation|down-regulation of heart cell differentiation|downregulation of cardiac cell differentiation|inhibition of heart cell differentiation|down-regulation of cardiocyte differentiation|down regulation of cardiac cell differentiation|inhibition of cardiocyte differentiation|down-regulation of cardiac cell differentiation|down regulation of cardiocyte differentiation|negative regulation of heart cell differentiation|negative regulation of cardiac cell differentiation|inhibition of cardiac cell differentiation owl:Class MONDO:0005497 biolink:NamedThing bone development disease A disease involving the bone development. tmpak2llvmy_mondo_relaxed.owl disease of bone development|disease or disorder of bone development|bone development disease or disorder|bone development disease|disorder of bone development SCTID:371521007|DOID:0080006|EFO:0005541 owl:Class MONDO:0022643 biolink:NamedThing carcinoma of the vocal tract A carcinoma that involves the laryngeal vocal fold. tmpak2llvmy_mondo_relaxed.owl laryngeal vocal fold carcinoma|carcinoma of laryngeal vocal fold GARD:0005996 owl:Class GO:0099601 biolink:NamedThing regulation of neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041403 biolink:NamedThing toxic amblyopia A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors. tmpak2llvmy_mondo_relaxed.owl nutritional optic neuropathy|tobacco amblyopia SCTID:30483005 owl:Class MONDO:0001019 biolink:NamedThing suppression amblyopia A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. tmpak2llvmy_mondo_relaxed.owl strabismic amblyopia ICD10:H53.03|UMLS:C0750903|DOID:10375|ICD9:368.01|SCTID:35600002 owl:Class UBERON:0009201 biolink:NamedThing nephric duct A nephric duct is a tube that drains a primitive kidney[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006553 biolink:NamedThing renal duct A tube in the kidney that collect and transport urine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008182 biolink:NamedThing nasopalpebral lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. tmpak2llvmy_mondo_relaxed.owl NPLCS|palpebral coloboma lipoma syndrome|nasopalpebral lipoma-coloboma syndrome|NASOPALPEBRAL lipoma-coloboma syndrome|Nasopalpebral lipoma coloboma syndrome|palpebral coloboma-lipoma syndrome OMIM:167730|MESH:C538338|GARD:0003927|Orphanet:2399|ICD10:Q10.3|SCTID:723411003|UMLS:C1868660 https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome owl:Class MONDO:0020157 biolink:NamedThing syndromic palpebral coloboma tmpak2llvmy_mondo_relaxed.owl Orphanet:98566|UMLS:CN227802 owl:Class CL:0002200 biolink:NamedThing oxyphil cell of thyroid An oncocyte located in the thyroid. tmpak2llvmy_mondo_relaxed.owl Askanazy cells|Hurthle cells FMA:87169 tmeehan 2010-09-02T11:33:26Z cell owl:Class CL:0002198 biolink:NamedThing oncocyte A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands. tmpak2llvmy_mondo_relaxed.owl oxyphil FMA:67606 tmeehan 2010-09-02T11:26:49Z cell owl:Class MONDO:0008361 biolink:NamedThing radius, aplasia of, with cleft lip/palate tmpak2llvmy_mondo_relaxed.owl radius, aplasia of, with cleft lip/palate OMIM:179400|UMLS:C1867395 owl:Class MONDO:0018348 biolink:NamedThing polyglucosan body myopathy type 1 tmpak2llvmy_mondo_relaxed.owl PGBM1 2021-01-01 Orphanet:397937|ICD10:E74.0 Reason: duplicate. This will be merged with MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency owl:Class NCBITaxon:121226 biolink:NamedThing Pediculus humanus capitis tmpak2llvmy_mondo_relaxed.owl human head louse|Pediculus capitis|human head lice PMID:23049889|GC_ID:1|PMID:18434207 ncbi_taxonomy owl:Class NCBITaxon:121225 biolink:NamedThing Pediculus humanus tmpak2llvmy_mondo_relaxed.owl body lice|human lice|head lice|human louse PMID:18434207|PMID:23049889|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011005 biolink:NamedThing trisomy 18-like syndrome tmpak2llvmy_mondo_relaxed.owl trisomy 18-like syndrome UMLS:C1832677|MESH:C563382|OMIM:601161 owl:Class MONDO:0008675 biolink:NamedThing freeman-Sheldon syndrome Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. tmpak2llvmy_mondo_relaxed.owl whistling face syndrome|craniocarpotarsal dystrophy|freeman Sheldon syndrome|windmill-vane-hand syndrome|DA2A|arthrogryposis distal type 2A|whistling-face syndrome|arthrogryposis, distal, type 2A|distal arthrogryposis type 2A|cranio-carpo-tarsal syndrome|freeman-Sheldon syndrome|Craniocarpotarsal dystrophy|Craniocarpotarsal dysplasia|craniocarpotarsal dysplasia|whistling face-windmill vane hand syndrome|FSS ICD10CM:Q87.0|GARD:0006466|MESH:C535483|SCTID:52616002|DOID:0111604|Orphanet:2053|UMLS:C0265224|NCIT:C98931|ICD10:Q87.0|OMIM:193700 owl:Class MONDO:0008779 biolink:NamedThing arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. tmpak2llvmy_mondo_relaxed.owl congenital multiple Arthrogryposes|congenital multiple arthrogryposis|Arthrogryposes, congenital multiple NCIT:C84572|UMLS:C0003886|MESH:D001176|EFO:0003857 owl:Class MONDO:0016467 biolink:NamedThing isotretinoin syndrome Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. tmpak2llvmy_mondo_relaxed.owl fetal isotretinoin syndrome|Isotretinoin teratogen syndrome|fetal retinoid syndrome|Isotretinoin fetal effects of|Isotretinoin (RoAccutane) embryopathy|Accutane-exposed pregnancies|retinoic acid embryopathy|Isotretinoin embryopathy|Accutane fetal effects of|Retinoids embryopathy|Acutane embryopathy NCIT:C98929|MESH:C535670|GARD:0000517|Orphanet:2305|ICD10:Q86.8|SCTID:36871005 owl:Class MONDO:0009473 biolink:NamedThing isotretinoin-like syndrome Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. tmpak2llvmy_mondo_relaxed.owl Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|syndrome of microtia and aortic arch anomalies|ISOTRETINOIN embryopathy-like syndrome|Kawashima syndrome|microtia-aortic Arch syndrome|microtia-aortic arch syndrome SCTID:722006004|OMIM:243440|GARD:0009675|MESH:C535542|Orphanet:2306|ICD10:Q87.8 owl:Class MONDO:0006823 biolink:NamedThing Klinefelter syndrome A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism|Klinefelter's syndrome|XXY syndrome (Klinefelter syndrome)|47,XXY syndrome|Klinefelter syndrome|XXY trisomy|XXY syndrome|Klinefelter's syndrome, XXY ICD9:758.7|ICD10:Q98.0|MedDRA:10023463|MESH:D007713|DOID:1921|UMLS:C0022735|EFO:1001006|ICD10:Q98.4|NCIT:C34752|SCTID:405769009 owl:Class MONDO:0014962 biolink:NamedThing intellectual disability, autosomal recessive 57 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7|intellectual disability, autosomal recessive 57|MRT57|mental retardation, autosomal recessive type 57|mental retardation, autosomal recessive 57|intellectual disability, autosomal recessive type 57|MBOAT7 autosomal recessive non-syndromic intellectual disability UMLS:C4310673|OMIM:617188 owl:Class MONDO:0008560 biolink:NamedThing thrombophilia due to activated protein C resistance A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. tmpak2llvmy_mondo_relaxed.owl thrombophilia due to ACTIVATED PROTEIN C resistance|thrombophilia due to activated protein C resistance|thrombophilia 5|resistance, APC|Proc cofactor deficiency|APC resistance|thrombophilia due to deficiency of Activated Protein C cofactor|thrombophilia due to Factor 5 Leiden|Activated Protein C resistance|THPH2|Pccf deficiency UMLS:C1861171|MESH:D020016|OMIM:188055|SCTID:421527008|ICD9:289.81 owl:Class MONDO:0100240 biolink:NamedThing inherited thrombophilia An instance of thrombophilia that is inherited. tmpak2llvmy_mondo_relaxed.owl thrombophilia, hereditary|hereditary hypercoagulable disorder|hereditary thrombophilia OMIMPS:188050 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005639 biolink:NamedThing AIDS related complex A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. tmpak2llvmy_mondo_relaxed.owl EFO:0007137|MESH:D000386|UMLS:C0001857 owl:Class MONDO:0012102 biolink:NamedThing glaucoma 1, open angle, K tmpak2llvmy_mondo_relaxed.owl glaucoma 1, open angle, K|JOAG1K|GLC1K|glaucoma, primary open angle, juvenile-onset, 3 UMLS:C1837527|MESH:C563873|OMIM:608696 owl:Class UBERON:0001154 biolink:NamedThing vermiform appendix A blind-ended tube connected to the cecum, from which it develops embryologically[WP]. tmpak2llvmy_mondo_relaxed.owl caecal appendix|cecal appendix|appendix vermiformis|appendix|vermix|apex of cecum|apex of caecum owl:Class HP:0005120 biolink:NamedThing Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. tmpak2llvmy_mondo_relaxed.owl Abnormality of cardiac atrium morphology|Abnormality of heart atrium UMLS:C4025246 peter 2008-03-26T04:12:00Z human_phenotype owl:Class HP:0001627 biolink:NamedThing Abnormal heart morphology Any structural anomaly of the heart. tmpak2llvmy_mondo_relaxed.owl Cardiac anomalies|Heart defect|Abnormally shaped heart|Congenital heart defects|Congenital heart defect|Abnormality of cardiac morphology|Cardiac abnormality|Abnormality of the heart|Cardiac anomaly SNOMEDCT_US:13213009|UMLS:C0152021|MSH:D006330|UMLS:C0018798 HP:3000001 human_phenotype owl:Class MONDO:0001028 biolink:NamedThing acute pericementitis An acute inflammatory process that affects the tissues that surround and support the teeth. tmpak2llvmy_mondo_relaxed.owl periodontitis, acute|acute periodontitis ICD9:523.3|DOID:10423|ICD9:523.33|UMLS:C0001342|NCIT:C34354|SCTID:21638000 owl:Class MONDO:0002748 biolink:NamedThing rectum mucinous adenocarcinoma An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpak2llvmy_mondo_relaxed.owl rectal colloid adenocarcinoma|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of the rectum|colloid adenocarcinoma of the rectum|colloidal adenocarcinoma of rectum|rectum mucinous adenocarcinoma|rectal colloidal adenocarcinoma|colloid adenocarcinoma of rectum|mucinous adenocarcinoma of the rectum|mucinous adenocarcinoma of rectum DOID:3709|NCIT:C7973|UMLS:C0279652 owl:Class MONDO:0002169 biolink:NamedThing rectum adenocarcinoma An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of rectum|rectal adenocarcinoma|adenocarcinoma of the rectum|rectum adenocarcinoma|read|adenocarcinoma - rectum ONCOTREE:READ|NCIT:C9383|UMLS:C0149978|SCTID:254582000|EFO:0005631|DOID:1996 owl:Class MONDO:0044999 biolink:NamedThing scalp disease A disease or disorder that involves the scalp. tmpak2llvmy_mondo_relaxed.owl scalp disease|disorder of scalp|disease or disorder of scalp|disease of scalp|scalp disease or disorder UMLS:C0406629|SCTID:238922006 owl:Class CHEBI:18186 biolink:NamedThing tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. tmpak2llvmy_mondo_relaxed.owl 2-Amino-3-(p-hydroxyphenyl)propionic acid|Tyr|2-amino-3-(4-hydroxyphenyl)propanoic acid|tirosina|Tyrosine|Y|Tyrosin|tyrosine|3-(p-Hydroxyphenyl)alanine owl:Class CHEBI:26167 biolink:NamedThing polar amino acid Any amino acid whose side chain is capable of forming one or more hydrogen bonds. tmpak2llvmy_mondo_relaxed.owl polar amino acid|polar amino-acid|polar amino acids|polar amino-acids owl:Class MONDO:0005320 biolink:NamedThing tibia fracture Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. tmpak2llvmy_mondo_relaxed.owl tibia bone fracture|bone fracture of tibia SCTID:31978002|MESH:D013978|EFO:0003944 owl:Class MONDO:0005571 biolink:NamedThing polycythemia Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. tmpak2llvmy_mondo_relaxed.owl polycythemia (disease)|erythrocythemia|polycythemia polycythemia (disease) ICD10:D75.1|EFO:0005804|DOID:8432|MedDRA:10036051|NCIT:C26863|UMLS:C0032461|Orphanet:98427|HP:0001901|MESH:D011086 owl:Class MONDO:0003225 biolink:NamedThing bone marrow disease Any disease of the bone marrow. tmpak2llvmy_mondo_relaxed.owl bone marrow disease|bone marrow disease or disorder|disease or disorder of bone marrow|disease of bone marrow|disorder of bone marrow|bone marrow disorder NCIT:C34433|DOID:4961|SCTID:127035006|ICD9:289.9|MESH:D001855|UMLS:C0005956 owl:Class ECTO:9002148 biolink:NamedThing exposure to polycyclic hydrocarbon An exposure to polycyclic hydrocarbon. tmpak2llvmy_mondo_relaxed.owl exposure to polycyclic hydrocarbon owl:Class ECTO:0000163 biolink:NamedThing exposure to organic cyclic compound An exposure to organic cyclic compound. tmpak2llvmy_mondo_relaxed.owl exposure to organic cyclic compound owl:Class MONDO:0003739 biolink:NamedThing selective immunoglobulin deficiency disease A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. tmpak2llvmy_mondo_relaxed.owl selective Immunoglobulin isotype deficiency UMLS:C1335942|DOID:6025|NCIT:C27870 owl:Class MONDO:0004162 biolink:NamedThing uterine corpus cellular leiomyoma A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpak2llvmy_mondo_relaxed.owl body of uterus cellular leiomyoma|cellular leiomyoma of body of uterus|uterine corpus cellular leiomyoma DOID:7242|UMLS:C1519845|NCIT:C40163 owl:Class MONDO:0003296 biolink:NamedThing cellular leiomyoma A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpak2llvmy_mondo_relaxed.owl cellular leiomyoma (morphologic abnormality)|cellular leiomyoma DOID:5139|UMLS:C0334477|NCIT:C4256|ICDO:8892/0 owl:Class UBERON:0001869 biolink:NamedThing cerebral hemisphere One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA] tmpak2llvmy_mondo_relaxed.owl hemispheric regions|medial amygdalar nucleus|cerebrum|hemispherium cerebri|nucleus amygdaloideus medialis|hemisphere|nucleus medialis amygdalae owl:Class HGNC:9312 biolink:NamedThing PPP2R5D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012160 biolink:NamedThing spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|spondylometaphyseal dysplasia-cone-rod dystrophy syndrome|SmD-CRD GARD:0010647|OMIM:608940|ICD10:Q77.8|Orphanet:85167|UMLS:C1837073|MESH:C563825 owl:Class HP:0033353 biolink:NamedThing Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). tmpak2llvmy_mondo_relaxed.owl 2020-12-01 11:42:14+00:00 peter human_phenotype owl:Class MONDO:0021745 biolink:NamedThing psychosocial short stature A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. tmpak2llvmy_mondo_relaxed.owl child abuse dwarfism|abuse dwarfism syndrome|Kaspar Hauser syndrome|psychosocial dwarfism UMLS:C1455735|SCTID:39465007|GARD:0009440|MESH:C535569 https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature owl:Class MONDO:0015999 biolink:NamedThing primary pigmented nodular adrenocortical disease A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). tmpak2llvmy_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary|pigmented nodular adrenocortical disease|PPNAD|primary pigmented nodular adrenal dysplasia UMLS:C4304832|NCIT:C131196|GARD:0010906|Orphanet:189439|UMLS:CN200645|ICD10:E24.8|DOID:0060280|SCTID:719274008|OMIMPS:610489 https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease owl:Class GO:2000850 biolink:NamedThing negative regulation of glucocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005438 biolink:NamedThing metastatic malignant neoplasm in the lymph nodes The spread of a malignant neoplasm to the lymph nodes. tmpak2llvmy_mondo_relaxed.owl Metastases to lymph nodes|metastasis to lymph node|metastatic neoplasm to the lymph node|metastatic malignant neoplasm to the lymph nodes|metastatic tumor to lymph node NCIT:C4904|EFO:0004906|UMLS:C0686619 owl:Class UBERON:0004217 biolink:NamedThing upper arm nerve A nerve that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003433 biolink:NamedThing arm nerve A nerve that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of brachial region|brachial region nerve|nerve of arm owl:Class MONDO:0000994 biolink:NamedThing malignant prostate phyllodes tumor An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. tmpak2llvmy_mondo_relaxed.owl malignant phyllodes neoplasm of prostate|malignant prostate phyllodes neoplasm|malignant prostate phyllodes tumor|malignant phyllodes tumor of prostate|prostate malignant phyllodes tumor|malignant phyllodes tumor of the prostate|malignant phyllodes neoplasm of the prostate NCIT:C5531|UMLS:C1334615|DOID:10289 owl:Class UBERON:0004859 biolink:NamedThing eye gland A gland that is part of a eye. The eye is a compound unit which depending on the species may consist of an eyeballs plus associated ducts and integumentary structures. Eye glands therefore include the various types of lacrimal gland, the various types of apocrine and sebaceous glands associated with the eyelid. tmpak2llvmy_mondo_relaxed.owl eye-associated gland|gland of eye owl:Class MONDO:0001723 biolink:NamedThing progressive peripheral pterygium tmpak2llvmy_mondo_relaxed.owl ICD9:372.42|DOID:13474|SCTID:193881001|UMLS:C0155155 owl:Class MONDO:0010563 biolink:NamedThing blue cone monochromacy Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. tmpak2llvmy_mondo_relaxed.owl incomplete achromatopsia X-linked|blue cone monochromacy|cone dystrophy 5, X-linked|S cone monochromacy|S cone monochromatism|colorblindness, blue-Mono-cone-monochromatic type|X-linked achromatopsia incomplete|atypical X-linked achromatopsia|blue cone monochromatism|X-chromosome-linked achromatopsia|color blindness, blue monocone monochromatic type|color blindness blue mono cone monochromatic type|X-linked incomplete achromatopsia|achromatopsia incomplete X-linked|BCM|CBBM ICD10:H53.5|SCTID:24704003|OMIM:303700|MESH:C536238|Orphanet:16|UMLS:CN036572|DOID:0050679|GARD:0000917 https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism owl:Class MONDO:0021155 biolink:NamedThing X-linked cone-rod dystrophy X-linked form of cone-rod dystrophy. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy, X-linked owl:Class PR:000001944 biolink:NamedThing transcription factor PU.1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022646 biolink:NamedThing cardiofacial syndrome short limbs tmpak2llvmy_mondo_relaxed.owl GARD:0001097 https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs owl:Class MONDO:0012152 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl Adhd4|attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4 OMIM:608906 owl:Class UBERON:0013231 biolink:NamedThing sebaceous gland of eyelid Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013229 biolink:NamedThing eyelid gland Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland). tmpak2llvmy_mondo_relaxed.owl gland of eyelid owl:Class UBERON:0001136 biolink:NamedThing mesothelium Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011527 biolink:NamedThing Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital hypomyelinating or amyelinating neuropathy|CHN1|neuropathy, congenital hypomyelinating, autosomal dominant|Charcot-Marie-Tooth neuropathy, type 4E|Charcot Marie Tooth disease type 4E|Charcot-Marie-Tooth disease type 4E|hypomyelination, Severe congenital|CHN|congenital hypomyelination neuropathy|congenital hypomyelinating neuropathy (CHN)|neuropathy, congenital hypomyelinating|CMT 4E|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|CMT4E|Charcot-Marie-Tooth neuropathy type 4E|autosomal recessive congenital hypomyelinating neuropathy|neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth disease, type 4E|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive OMIM:605253|DOID:0110195|SCTID:763135001|MESH:C535301|GARD:0006170|GARD:0009203|Orphanet:99951|ICD10:G60.0 Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy owl:Class MONDO:0018995 biolink:NamedThing Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpak2llvmy_mondo_relaxed.owl CMT4|AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth UMLS:CN043578|Orphanet:64749|GARD:0012440|DOID:0050541|ICD10:G60.0|SCTID:715795005 owl:Class MONDO:0003371 biolink:NamedThing breast leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of the breast|breast leiomyosarcoma|leiomyosarcoma of breast NCIT:C5186|UMLS:C1332631|DOID:5285 owl:Class NCBITaxon:33278 biolink:NamedThing Ancylostomatidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2572558 biolink:NamedThing Ancylostomatoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020441 biolink:NamedThing right superior vena cava connecting to left-sided atrium Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. tmpak2llvmy_mondo_relaxed.owl right superior caval vein connecting to left-sided atrium|right SVC connecting to left-sided atrium Orphanet:99110|ICD10:Q26.8 owl:Class MONDO:0019829 biolink:NamedThing congenital anomaly of superior vena cava tmpak2llvmy_mondo_relaxed.owl congenital anomaly of the SVC|congenital anomaly of superior caval vein ICD9:747.49|ICD10:Q26.9|SCTID:70195006|Orphanet:95498 owl:Class NCBITaxon:114277 biolink:NamedThing spotted fever group tmpak2llvmy_mondo_relaxed.owl PMID:9734038|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:780 biolink:NamedThing Rickettsia tmpak2llvmy_mondo_relaxed.owl PMID:10939649|PMID:11491333|GC_ID:11|PMID:14662925|PMID:9103608 ncbi_taxonomy owl:Class UBERON:0002426 biolink:NamedThing chest muscle Any muscle organ that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of anterolateral part of thorax|thoracic muscle|muscle organ of anterior thoracic region|muscle organ of front of thorax|chest muscle organ|anterolateral part of thorax muscle organ|front of thorax muscle organ|musculus thoracicus|muscle organ of chest|anterior thoracic region muscle organ|muscle of thorax owl:Class UBERON:0005175 biolink:NamedThing chest organ An organ that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002957 biolink:NamedThing sarcomatoid basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl skin sarcomatoid basal cell carcinoma DOID:4303|NCIT:C38111|UMLS:C1519182 owl:Class MONDO:0007608 biolink:NamedThing desmoid tumor A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. tmpak2llvmy_mondo_relaxed.owl desmoid fibromatosis|FIF|desmoid-type fibromatosis|deep fibromatosis/desmoid tumor|desmoid disease, hereditary|desmoid tumor caused by somatic mutation|desmoid tumor|aggressive fibromatosis|deep fibromatosis|fibromatosis, familial infiltrative|familial infiltrative fibromatosis|desmoid/aggressive fibromatosis|desmoid type fibromatosis|desmoid disorder, hereditary Orphanet:873|NCIT:C9182|ICD10:D48.1|UMLS:C0079218|ONCOTREE:DES|UMLS:C1851124|ICDO:8821/1|DOID:0080366|GARD:0001820|OMIM:135290|UMLS:CN072436 Editor note: consider separate class for inherited disease owl:Class GO:0035227 biolink:NamedThing regulation of glutamate-cysteine ligase activity Any process that modulates the activity of glutamate-cysteine ligase. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051340 biolink:NamedThing regulation of ligase activity Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. tmpak2llvmy_mondo_relaxed.owl ligase regulator owl:Class MONDO:0019293 biolink:NamedThing skin vascular disease A disease that involves the superficial vasculature. tmpak2llvmy_mondo_relaxed.owl vasculature skin disease|vascular disease of the skin|vascular skin disease|skin vascular disorder|vascular disorders of skin|disorder of blood vessels affecting skin|superficial vasculature disease|vascular disorder of skin ICD9:709.1|MedDRA:10062171|UMLS:C0162819|NCIT:C35254|MESH:D017445|SCTID:11263005|DOID:9540|Orphanet:79379 owl:Class MONDO:0033280 biolink:NamedThing nephrotic syndrome 16 tmpak2llvmy_mondo_relaxed.owl NPHS16|nephrotic syndrome, type 16|nephrotic syndrome 16 UMLS:CN651336|DOID:0080272|OMIM:617783 owl:Class MONDO:0016323 biolink:NamedThing chronic respiratory distress with surfactant metabolism deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:J84.8|Orphanet:217566 owl:Class MONDO:0017032 biolink:NamedThing primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder tmpak2llvmy_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar structure disorder 2022-03-01 UMLS:CN202344|Orphanet:264930 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0018305 biolink:NamedThing chronic granulomatous disease Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. tmpak2llvmy_mondo_relaxed.owl Quie syndrome|granulomatous disease, chronic|congenital dysphagocytosis|chronic septic granulomatosis|CGD|Bridges-Good syndrome OMIMPS:306400|GARD:0006100|MESH:D006105|SCTID:387759001|DOID:3265|ICD10:D71|NCIT:C26788|MedDRA:10008906|UMLS:C0018203|Orphanet:379 https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease owl:Class HGNC:969 biolink:NamedThing BBS4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014850 biolink:NamedThing retinitis pigmentosa and erythrocytic microcytosis tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa and erythrocytic microcytosis; RPEM|retinitis pigmentosa and erythrocytic microcytosis|RPEM UMLS:C4310776|OMIM:616959 owl:Class MONDO:0008797 biolink:NamedThing anodontia Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. tmpak2llvmy_mondo_relaxed.owl total anodontia of permanent and deciduous teeth|anodontia of permanent dentition|developmental absence of tooth|complete absence of teeth|absence of permanent teeth|teeth, permanent, absence of SCTID:16958000|ICD9:520.0|DOID:13714|MedDRA:10002583|OMIM:206780|GARD:0005818|Orphanet:99797|ICD10:K00.0|MESH:D000848 https://rarediseases.info.nih.gov/diseases/5818/anodontia owl:Class MONDO:0008824 biolink:NamedThing fetal akinesia deformation sequence Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes. tmpak2llvmy_mondo_relaxed.owl fetal akinesia sequence|arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|FADS|fetal akinesia deformation sequence|arthrogryposis multiplex congenita with pulmonary hypoplasia NCIT:C129071|GARD:0009634|MESH:C536647|OMIMPS:208150|ICD9:754.89|ICD10:Q87.8|DOID:0111375|SCTID:401138005 https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence owl:Class MONDO:0021669 biolink:NamedThing post-infectious disorder A disorder that follows infection but is distinct from the infection itself and its usual manifestations. tmpak2llvmy_mondo_relaxed.owl sequela of infectious disorder ICD9:139.8|SCTID:123976001 owl:Class MONDO:0003027 biolink:NamedThing thyroid gland angiosarcoma A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. tmpak2llvmy_mondo_relaxed.owl angiosarcoma of the thyroid|angiosarcoma of thyroid gland|angiosarcoma (disease) of thyroid gland|hemangiosarcoma of the thyroid|hemangiosarcoma of thyroid gland|thyroid gland angiosarcoma (disease)|hemangiosarcoma of thyroid|thyroid hemangiosarcoma|thyroid angiosarcoma|thyroid gland malignant hemangioendothelioma|thyroid gland angiosarcoma|hemangiosarcoma of the thyroid gland|angiosarcoma of the thyroid gland|angiosarcoma of thyroid|thyroid gland hemangiosarcoma DOID:4514|UMLS:C1336748|NCIT:C6043 owl:Class MONDO:0010217 biolink:NamedThing de Sanctis-Cacchione syndrome A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. tmpak2llvmy_mondo_relaxed.owl xerodermic idiocy|de Sanctis-Cacchione syndrome NCIT:C84666|UMLS:CN199649|OMIM:278800|Orphanet:1569|GARD:0008276|ICD9:759.89|SCTID:414673004|UMLS:C0265201|MESH:C535992 https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome owl:Class MONDO:0006868 biolink:NamedThing neurogenic bowel Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. tmpak2llvmy_mondo_relaxed.owl MedDRA:10048657|EFO:1001061|MESH:D055496|ICD10:K59.2|SCTID:425671009|ICD9:564.81|DOID:13419|UMLS:C0695242 owl:Class MONDO:0007082 biolink:NamedThing alopecia areata 1 tmpak2llvmy_mondo_relaxed.owl alopecia areata 1|AA1|alopecia universalis OMIM:104000|UMLS:C1863094 owl:Class MONDO:0005340 biolink:NamedThing alopecia areata Loss of scalp and body hair involving microscopically inflammatory patchy areas. tmpak2llvmy_mondo_relaxed.owl circumscribed alopecia|alopecia circumscripta|alopecia Circumscripta|alopecia areata|patchy loss of hair ICD10:L63|MESH:D000506|ICD10:L63.9|ICD9:704.01|GARD:0005782|SCTID:68225006|UMLS:C0002171|DOID:986|EFO:0004192 owl:Class MONDO:0008092 biolink:NamedThing hereditary neutrophilia A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. tmpak2llvmy_mondo_relaxed.owl neutrophilia, hereditary Orphanet:279943|OMIM:162830|UMLS:C0543669|SCTID:129639005|MESH:C563010|ICD10:D72.8|DOID:0090120 owl:Class UBERON:0005502 biolink:NamedThing rhombomere roof plate tmpak2llvmy_mondo_relaxed.owl roof plate rhombomere region|roof plate rhombomere|future hindbrain roof plate|roof plate rhombomeres|roof plate hindbrain owl:Class UBERON:0003054 biolink:NamedThing roof plate A single row of glia at the dorsal midline of the developing neural tube along the entire anterior-posterior axis. This region provides inductive signals for the specification of neuronal cell types and of the specification of neural crest cells. The cells comprising the roof plate are the precursors to radial glial cells. tmpak2llvmy_mondo_relaxed.owl roof plate neural tube|future brain roof plate|roofplate|roof plate neural tube region|alar plate owl:Class HGNC:9051 biolink:NamedThing PLAT tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046325 biolink:NamedThing negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpak2llvmy_mondo_relaxed.owl down-regulation of glucose import|inhibition of glucose import|downregulation of glucose import|down regulation of glucose import|negative regulation of glucose uptake owl:Class GO:0010829 biolink:NamedThing negative regulation of glucose transmembrane transport Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl negative regulation of glucose transport owl:Class HGNC:17397 biolink:NamedThing BANF1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:83812 biolink:NamedThing non-proteinogenic amino acid derivative Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. tmpak2llvmy_mondo_relaxed.owl non-canonical amino acid derivative|non-canonical amino-acid derivatives|non-proteinogenic amino-acid derivatives owl:Class CHEBI:83821 biolink:NamedThing amino acid derivative Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. tmpak2llvmy_mondo_relaxed.owl amino acid derivatives|modified amino acids owl:Class MONDO:0012433 biolink:NamedThing Senior-Loken syndrome 6 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpak2llvmy_mondo_relaxed.owl CEP290 Senior-Loken syndrome|SENIOR-Loken syndrome 6|Senior-Loken syndrome caused by mutation in CEP290|SLSN6|Senior-Loken syndrome type 6|Senior-Loken syndrome 6 UMLS:C1857779|OMIM:610189|MESH:C565708 owl:Class MONDO:0100451 biolink:NamedThing CEP290 ciliopathy A ciliopathy caused by biallelic variants in the CEP290 gene. tmpak2llvmy_mondo_relaxed.owl Senior-Loken syndrome type 6|Bardet-Biedl syndrome type 14|LCA10|Joubert syndrome type 5|CEP290 ciliopathy|Meckel syndrome, type 4|SENIOR-Loken syndrome 6|Meckel-Gruber syndrome, type 4|JBTS5|Meckel syndrome caused by mutation in CEP290|BBS14|Meckel-like Cerebrorenodigital syndrome|Senior-Loken syndrome 6|Leber congenital amaurosis 10|CEP290 Meckel syndrome|SLSN6|MKS4|CEP290 Senior-Loken syndrome|Joubert syndrome 5|Meckel syndrome 4|CEP290 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CEP290|Senior-Loken syndrome caused by mutation in CEP290|amaurosis congenita of Leber, type 10|Leber congenital amaurosis type 10|Bardet-Biedl syndrome 14|Joubert syndrome caused by mutation in CEP290|CEP290 Joubert syndrome owl:Class MONDO:0012733 biolink:NamedThing autosomal recessive bestrophinopathy Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). tmpak2llvmy_mondo_relaxed.owl bestrophinopathy|retinopathy, Burgess-Black type|bestrophinopathy, autosomal recessive|ARB UMLS:C2678493|DOID:0050662|Orphanet:139455|OMIM:611809|MESH:C567518|SCTID:723828008|UMLS:C3888198|ICD10:H35.5 owl:Class GO:1900373 biolink:NamedThing positive regulation of purine nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpak2llvmy_mondo_relaxed.owl upregulation of purine nucleotide biosynthesis|activation of purine nucleotide anabolism|up-regulation of purine nucleotide biosynthetic process|activation of purine nucleotide formation|upregulation of purine nucleotide anabolism|activation of purine nucleotide synthesis|up-regulation of purine nucleotide synthesis|up regulation of purine nucleotide formation|up-regulation of purine nucleotide anabolism|upregulation of purine nucleotide formation|activation of purine nucleotide biosynthesis|up-regulation of purine nucleotide formation|positive regulation of purine nucleotide biosynthesis|up regulation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide anabolism|activation of purine nucleotide biosynthetic process|upregulation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide formation|up regulation of purine nucleotide synthesis|positive regulation of purine nucleotide synthesis|up regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide synthesis|up-regulation of purine nucleotide biosynthesis|up regulation of purine nucleotide anabolism owl:Class GO:0030810 biolink:NamedThing positive regulation of nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpak2llvmy_mondo_relaxed.owl positive regulation of nucleotide biosynthesis|up regulation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|positive regulation of nucleotide anabolism|positive regulation of nucleotide formation|upregulation of nucleotide biosynthetic process|stimulation of nucleotide biosynthetic process|activation of nucleotide biosynthetic process|up-regulation of nucleotide biosynthetic process owl:Class MONDO:0012851 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 2 tmpak2llvmy_mondo_relaxed.owl nephrolithiasis/osteoporosis, hypophosphatemic, 2|NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2 DOID:0080078|MESH:C567362|OMIM:612287|UMLS:C2676782 owl:Class MONDO:0001343 biolink:NamedThing impaired renal function disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. tmpak2llvmy_mondo_relaxed.owl kidney disease|disease of kidney ICD10:N25|SCTID:197663003|ICD9:588.8|DOID:11705|ICD9:588.9|ICD9:588.89 owl:Class MONDO:0019350 biolink:NamedThing hereditary spherocytosis Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. tmpak2llvmy_mondo_relaxed.owl Minkowski Chauffard syndrome|spherocytic anemia|Minkowski-Chauffard disease|congenital spherocytosis|congenital spherocytic hemolytic anemia|hereditary spherocytosis SCTID:55995005|MESH:D013103|ICD9:282.0|MedDRA:10019904|GARD:0006639|UMLS:C0037889|ICD10:D58.0|DOID:12971|UMLS:CN206031|NCIT:C97074|Orphanet:822 https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis owl:Class MONDO:0005642 biolink:NamedThing atopic conjunctivitis Conjunctivitis due to hypersensitivity to various allergens. tmpak2llvmy_mondo_relaxed.owl allergic conjunctivitis|Atopic conjunctivitis|allergic conjunctivitis (disease)|allergic form of conjunctivitis (disease) NCIT:C34506|HP:0007879|SCTID:473460002|EFO:0007141|UMLS:C0009766|DOID:11204|ICD9:372.14 owl:Class MONDO:0002314 biolink:NamedThing chronic conjunctivitis Conjunctivitis that is persistent and long-standing. tmpak2llvmy_mondo_relaxed.owl chronic conjunctivitis (disease)|conjunctivitis (disease), chronic|chronic conjunctivitis, unspecified|chronic conjunctivitis UMLS:C0155145|NCIT:C35197|ICD9:372.1|SCTID:73762008|DOID:2475|ICD10:H10.4|ICD10:H10.40|ICD9:372.10 owl:Class HGNC:9349 biolink:NamedThing PRDM5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010561 biolink:NamedThing negative regulation of glycoprotein biosynthetic process Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000113 biolink:NamedThing negative regulation of cellular macromolecule biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of cellular biopolymer biosynthetic process|negative regulation of cellular macromolecule synthesis|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule anabolism|negative regulation of cellular macromolecule formation owl:Class MONDO:0010134 biolink:NamedThing Pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. tmpak2llvmy_mondo_relaxed.owl congenital hypothyroidism due to dyshormonogenesis 2B|autosomal recessive sensorineural hearing impairment and goiter|thyroid hormonogenesis, genetic defect in, 2B|PDS|TDH2B|thyroid dyshormonogenesis 2B|hypothyroidism, congenital, due to dyshormonogenesis, 2B|goiter-deafness syndrome|Pendred syndrome|genetic defect in thyroid hormonogenesis 2B|deafness with goiter NCIT:C121745|MESH:C536648|Orphanet:705|OMIM:274600|ICD10:E07.1|UMLS:C0271829|GARD:0004271|DOID:0060744|SCTID:70348004 owl:Class MONDO:0014388 biolink:NamedThing familial median cleft of the upper and lower lips Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. tmpak2llvmy_mondo_relaxed.owl orofacial cleft 14|OFC14 Orphanet:401942|ICD10:Q36.1|OMIM:615892 owl:Class CHEBI:38867 biolink:NamedThing anaesthetic Substance which produces loss of feeling or sensation. tmpak2llvmy_mondo_relaxed.owl anaesthetic|Anaesthetika|anesthetics|anesthetic agent|Anaesthetikum|anaesthetics|anesthetic drug owl:Class MONDO:0006655 biolink:NamedThing aortic valve prolapse The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. tmpak2llvmy_mondo_relaxed.owl EFO:1000815|MedDRA:10057454|MESH:D001023|UMLS:C0003505|DOID:5232 owl:Class UBERON:0015238 biolink:NamedThing pineal complex A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021726 biolink:NamedThing abdominal cystic lymphangioma Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. tmpak2llvmy_mondo_relaxed.owl abdomen cystic lymphangioma|abdominal retroperitoneal lymphangioma|RCL|retroperitoneal cystic lymphangioma GARD:0000439|UMLS:C2930929|MESH:C535553 https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma owl:Class GO:1903862 biolink:NamedThing positive regulation of oxidative phosphorylation Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation. tmpak2llvmy_mondo_relaxed.owl up regulation of respiratory-chain phosphorylation|activation of respiratory-chain phosphorylation|upregulation of oxidative phosphorylation|up regulation of oxidative phosphorylation|upregulation of respiratory-chain phosphorylation|up-regulation of oxidative phosphorylation|positive regulation of respiratory-chain phosphorylation|up-regulation of respiratory-chain phosphorylation|activation of oxidative phosphorylation owl:Class HGNC:1477 biolink:NamedThing CAPN10 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003841 biolink:NamedThing autopod joint A limb joint that is part of an autopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl autopod joint of limb|joint of limb of autopod|autopod limb joint|limb joint of distal free limb segment|paw joint|distal free limb segment limb joint|distal free limb segment joint of limb|joint of limb of distal free limb segment|limb joint of autopod owl:Class MONDO:0011488 biolink:NamedThing microcephaly 3, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. tmpak2llvmy_mondo_relaxed.owl microcephaly 3, primary, autosomal recessive|MCPH3|autosomal recessive primary microcephaly caused by mutation in CDK5RAP2|CDK5RAP2 autosomal recessive primary microcephaly UMLS:C1858108|MESH:C565746|DOID:0070286|OMIM:604804 owl:Class GO:0010977 biolink:NamedThing negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpak2llvmy_mondo_relaxed.owl negative regulation of neurite development|negative regulation of neurite formation|growth cone collapse|negative regulation of neurite biosynthesis|negative regulation of neurite growth owl:Class GO:0010975 biolink:NamedThing regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpak2llvmy_mondo_relaxed.owl regulation of neurite biosynthesis|regulation of neurite growth|regulation of neurite development|regulation of neurite formation owl:Class MONDO:0018606 biolink:NamedThing extensive peripapillary myelinated nerve fibers tmpak2llvmy_mondo_relaxed.owl Orphanet:440724|UMLS:CN237640 owl:Class UBERON:0011645 biolink:NamedThing iliofemoralis muscle Limb extensor that runs from ilium to femur. tmpak2llvmy_mondo_relaxed.owl iliofemoralis owl:Class UBERON:0001325 biolink:NamedThing muscle of pelvis Muscle (organ) which is a part of the pelvis. Examples: levator ani, tmpak2llvmy_mondo_relaxed.owl pelvis muscle organ|muscle organ of pelvis|pelvis muscle|pelvic muscle owl:Class UBERON:0015482 biolink:NamedThing right hepatic artery A hepatic artery that is part of a right lobe of liver. tmpak2llvmy_mondo_relaxed.owl right branch of hepatic artery proper|right part of hepatic artery proper|ramus dexter (arteria hepatica propria) owl:Class MONDO:0014251 biolink:NamedThing melioidosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl melioidosis, susceptibility to|melioidosis, resistance to|susceptibility to melioidosis OMIM:615557 owl:Class GO:1903028 biolink:NamedThing positive regulation of opsonization Any process that activates or increases the frequency, rate or extent of opsonization. tmpak2llvmy_mondo_relaxed.owl up-regulation of opsonization|activation of opsonization|up regulation of opsonization|upregulation of opsonization owl:Class GO:0050766 biolink:NamedThing positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis. tmpak2llvmy_mondo_relaxed.owl activation of phagocytosis|up-regulation of phagocytosis|stimulation of phagocytosis|upregulation of phagocytosis|up regulation of phagocytosis owl:Class UBERON:0003477 biolink:NamedThing vein of upper lip The inferior labial vein is the vein receiving blood from the upper lip. tmpak2llvmy_mondo_relaxed.owl superior labial vein|vena labialis superior|upper lip vein owl:Class UBERON:0013136 biolink:NamedThing vein of lip A vein that drains a lip. tmpak2llvmy_mondo_relaxed.owl labial vein of face|lip vein|vena labialis|labial vein owl:Class GO:0010454 biolink:NamedThing negative regulation of cell fate commitment Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010453 biolink:NamedThing regulation of cell fate commitment Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037255 biolink:NamedThing ovarian serous tumor A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. tmpak2llvmy_mondo_relaxed.owl serous tumor of ovary|serous neoplasm of the ovary|serous neoplasm of ovary|ovarian serous neoplasm|serous tumor of the ovary|ovarian serous tumor NCIT:C8431|UMLS:C0476122 owl:Class MONDO:0002229 biolink:NamedThing ovarian epithelial tumor A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. tmpak2llvmy_mondo_relaxed.owl ovary epithelial neoplasm|epithelial neoplasm of the ovary|ovarian epithelial tumor|epithelial tumor of the ovary|epithelial tumor of ovary|ovarian surface epithelial-stromal tumor|ovary epithelial cancer|ovarian surface-epithelial stromal neoplasm|OVT|epithelial neoplasm of ovary DOID:2152|NCIT:C4381|SCTID:237057005|ONCOTREE:OVT|UMLS:C0341823|ICD9:239.5 owl:Class ENVO:01000958 biolink:NamedThing terrestrial planet A planet that is composed primarily of silicate rocks or metals. tmpak2llvmy_mondo_relaxed.owl Earth-like planet|telluric planet|rocky planet owl:Class UBERON:0001287 biolink:NamedThing proximal convoluted tubule The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. tmpak2llvmy_mondo_relaxed.owl proximal convoluted renal tubule|kidney proximal convoluted tubule|renal proximal convoluted tubule|tubulus contortus proximalis|PCT|1st convoluted tubule|first convoluted tubule|tubulus convolutus proximalis owl:Class MONDO:0021464 biolink:NamedThing benign neoplasm of cecum A benign neoplasm that involves the caecum. tmpak2llvmy_mondo_relaxed.owl benign cecum tumor|benign tumor of cecum|benign tumor of the cecum|benign cecum neoplasm|benign neoplasm of the cecum|caecum benign neoplasm NCIT:C4772|SCTID:92040001|UMLS:C0496859|ICD10:D12.0 owl:Class HGNC:753 biolink:NamedThing ASNS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004959 biolink:NamedThing plasma cell neoplasm A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. tmpak2llvmy_mondo_relaxed.owl plasma cell disorder|plasma cell neoplasm|plasma cell tumor, malignant|plasma cell tumour|plasmacytic neoplasm|plasmacytic tumor|plasmacytic tumour|plasma cell tumor|plasma cell dyscrasia UMLS:C1959632|SCTID:415111003|MESH:D054219|ICD9:238.6|NCIT:C4665|Orphanet:98282|EFO:0000200|DOID:6536 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 owl:Class GO:0001805 biolink:NamedThing positive regulation of type III hypersensitivity Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl up regulation of type III hypersensitivity|stimulation of type III hypersensitivity|upregulation of type III hypersensitivity|activation of type III hypersensitivity|up-regulation of type III hypersensitivity owl:Class MONDO:0024475 biolink:NamedThing squamous cell intraepithelial neoplasia tmpak2llvmy_mondo_relaxed.owl squamous intraepithelial lesion|sil|squamous cell intraepithelial neoplasia|SIN NCIT:C8334 owl:Class MONDO:0024474 biolink:NamedThing intraepithelial neoplasia A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). tmpak2llvmy_mondo_relaxed.owl intraepithelial neoplasm|epithelial dysplasia|intraepithelial neoplasia NCIT:C8366 owl:Class MONDO:0022802 biolink:NamedThing Collins-Sakati syndrome tmpak2llvmy_mondo_relaxed.owl Collins Sakati syndrome GARD:0001429 https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome owl:Class MONDO:0011162 biolink:NamedThing cataract 14 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene. tmpak2llvmy_mondo_relaxed.owl cataract 14, multiple types|Cae3|early-onset non-syndromic cataract caused by mutation in GJA3|CTRCT14|CZP3|zonular pulverulent cataract 3|GJA3 early-onset non-syndromic cataract|CAE3|cataract, zonular pulverulent 3 UMLS:C1866078|OMIM:601885|DOID:0110253|MESH:C566608|ICD10:Q12.0 owl:Class MONDO:0011135 biolink:NamedThing superior transverse scapular ligament, calcification of, familial tmpak2llvmy_mondo_relaxed.owl superior transverse scapular ligament, calcification of, familial UMLS:C1866424|OMIM:601708|MESH:C566638 owl:Class MONDO:0020670 biolink:NamedThing antithrombin deficiency type 2 tmpak2llvmy_mondo_relaxed.owl antithrombin deficiency type 2|Inherited antithrombin deficiency type II|antithrombmin III deficiency Type II MESH:C537779|GARD:0010182 owl:Class MONDO:0008936 biolink:NamedThing cerebellar ataxia and neurosensory deafness tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia and neurosensory deafness MESH:C565869|OMIM:212850|UMLS:C1859304 owl:Class MONDO:0012706 biolink:NamedThing familial temporal lobe epilepsy 4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. tmpak2llvmy_mondo_relaxed.owl EPOLM|epilepsy, familial temporal lobe, 4|ETL4|familial temporal lobe epilepsy type 4|epilepsy, occipitotemporal lobe, and migraine with aura|occipitotemporal lobe epilepsy and migraine with aura UMLS:C1968847|DOID:0060753|OMIM:611631|MESH:C566902 owl:Class MONDO:0005115 biolink:NamedThing temporal lobe epilepsy A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe|epilepsy of temporal lobe|temporal lobe epilepsy|epilepsy, temporal lobe OMIMPS:600512|EFO:0000773|DOID:3328|SCTID:193000002|UMLS:C0014556|NIFSTD:birnlex_12733|MESH:D004833 owl:Class MONDO:0018649 biolink:NamedThing cerebral visual impairment A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. tmpak2llvmy_mondo_relaxed.owl visual cortex disorder|cortical visual impairment NCIT:C35275|Orphanet:447788|SCTID:413924001|ICD10:H47.6|UMLS:CN237707 owl:Class MONDO:0032784 biolink:NamedThing neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements tmpak2llvmy_mondo_relaxed.owl NEDNEH|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS OMIM:618497 owl:Class GO:2001233 biolink:NamedThing regulation of apoptotic signaling pathway Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of apoptotic signalling pathway owl:Class MONDO:0025956 biolink:NamedThing ovarian remnant syndrome Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. tmpak2llvmy_mondo_relaxed.owl GARD:0007297 owl:Class MONDO:0005558 biolink:NamedThing ovarian disease A disease involving the ovary. tmpak2llvmy_mondo_relaxed.owl ovary disease|disease of ovary|ovary disease or disorder|disease or disorder of ovary|ovarian disease|ovarian disorder|disorder of ovary EFO:0005771|NCIT:C26841|UMLS:C0029928|DOID:1100|MESH:D010049|SCTID:5552004 owl:Class MONDO:0007615 biolink:NamedThing laurin-Sandrow syndrome Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. tmpak2llvmy_mondo_relaxed.owl laurin-Sandrow syndrome|mirror hands and feet with nasal defects|LSS|fibula ulna duplication tibia radius absence|mirror hands and feets-nasal defects syndrome|laurin Sandrow syndrome|Sandrow syndrome|mirror-Image polydactyly|fibula and ulna, Duplication of, with absence of tibia and radius|laurin-Sandrow syndrome, segmental|tetramelic mirror-Image polydactyly MESH:C535689|ICD10:Q87.2|Orphanet:2378|SCTID:715440003|GARD:0000155|DOID:0111350|OMIM:135750 https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome owl:Class GO:0098858 biolink:NamedThing actin-based cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0120025 biolink:NamedThing plasma membrane bounded cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006390 biolink:NamedThing prostate small cell carcinoma A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. tmpak2llvmy_mondo_relaxed.owl PRSCC|small cell carcinoma of prostate gland|prostate Oat cell carcinoma|prostate small cell carcinoma|prostate small cell neuroendocrine carcinoma|Oat cell carcinoma of prostate|prostate oat cell carcinoma|small cell carcinoma of prostate|small cell carcinoma of the prostate|prostate small cell NEC|Oat cell carcinoma of the prostate|prostate gland small cell carcinoma DOID:7141|NCIT:C6766|UMLS:C1300585|SCTID:396198006|ONCOTREE:PRSCC|EFO:1000499 Editor note: DO classifies as lung oat cell carcinoma owl:Class HGNC:9153 biolink:NamedThing PNKD tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007143 biolink:NamedThing female meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline. tmpak2llvmy_mondo_relaxed.owl female meiotic division|female meiosis owl:Class UBERON:0004530 biolink:NamedThing bony projection Anatomical projection that is composed of bone tissue. tmpak2llvmy_mondo_relaxed.owl bony projections|projection of bone|bone process owl:Class UBERON:4100000 biolink:NamedThing skeletal element projection Anatomical projection that is composed of bone or cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25699 biolink:NamedThing organic ion tmpak2llvmy_mondo_relaxed.owl organic ions owl:Class MONDO:0003808 biolink:NamedThing mediastinal extraskeletal osteosarcoma An osteosarcoma arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinal osteogenic sarcoma|mediastinal osteosarcoma|osteogenic sarcoma of the mediastinum|osteosarcoma of the mediastinum|osteogenic sarcoma of mediastinum|mediastinum osteosarcoma (disease)|osteosarcoma of mediastinum|mediastinal extraskeletal osteosarcoma UMLS:C1334675|DOID:6208|NCIT:C6615 owl:Class ECTO:9001942 biolink:NamedThing exposure to food additive An exposure to food additive. tmpak2llvmy_mondo_relaxed.owl exposure to food additive owl:Class ECTO:9002063 biolink:NamedThing exposure to food component An exposure to food component. tmpak2llvmy_mondo_relaxed.owl exposure to food component owl:Class MONDO:0008632 biolink:NamedThing urticaria, aquagenic Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. tmpak2llvmy_mondo_relaxed.owl urticaria, aquagenic|aquagenic urticaria UMLS:C0263334|MESH:C562481|OMIM:191850|ICD9:708.8|GARD:0010901|SCTID:89870006 https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria owl:Class MONDO:0003849 biolink:NamedThing clivus chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpak2llvmy_mondo_relaxed.owl chordoma of the clivus|chordoma of clivus|clival chordoma|clivus of occipital bone chordoma (disease)|chordoma (disease) of clivus of occipital bone DOID:6312|NCIT:C5412|ICD9:170.0|UMLS:C1333071|SCTID:446939001 owl:Class MONDO:0002892 biolink:NamedThing skull base chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. tmpak2llvmy_mondo_relaxed.owl chordoma of skull base|skull base chordoma|chordoma of the skull base NCIT:C5453|DOID:4151|UMLS:C1335975 owl:Class MONDO:0012891 biolink:NamedThing pontocerebellar hypoplasia type 2C Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene. tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 2C|PCH2C|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34|TSEN34 non-syndromic pontocerebellar hypoplasia MESH:C567324|OMIM:612390|DOID:0060269|UMLS:C2676465 owl:Class MONDO:0012525 biolink:NamedThing Leber congenital amaurosis 12 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene. tmpak2llvmy_mondo_relaxed.owl LCA12|amaurosis congenita of Leber, type 12|Leber congenital amaurosis caused by mutation in RD3|Leber congenital amaurosis type 12|RD3 Leber congenital amaurosis|Leber congenital amaurosis 12 DOID:0110080|GARD:0010489|OMIM:610612|MESH:C565697|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12 owl:Class UBERON:0001083 biolink:NamedThing myocardium of ventricle Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer. tmpak2llvmy_mondo_relaxed.owl ventricle myocardium|ventricle cardiac muscle|ventricular myocardium owl:Class UBERON:0002349 biolink:NamedThing myocardium the middle layer of the heart, comprised mainly of striated cardiac muscle fibers tmpak2llvmy_mondo_relaxed.owl cardiac muscle|heart muscle|heart myocardium|muscle of heart owl:Class UBERON:0000056 biolink:NamedThing ureter Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. tmpak2llvmy_mondo_relaxed.owl metanephric duct owl:Class UBERON:0006555 biolink:NamedThing excretory tube A tube that is part of a excretory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016169 biolink:NamedThing chronic acquired demyelinating polyneuropathy Chronic form of acquired peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl chronic acquired peripheral neuropathy|CADP|acquired peripheral neuropathy, chronic Orphanet:208974 owl:Class MONDO:0017169 biolink:NamedThing multiple endocrine neoplasia Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. tmpak2llvmy_mondo_relaxed.owl men syndromes|multiple endocrine adenomatosis|multiple endocrine neoplasia syndrome|men syndrome|multiple endocrine neoplasia syndrome(s)|multiple endocrine neoplasia|men NCIT:C6432|ICDO:8360/1|UMLS:C0027662|ICD9:258.0|MedDRA:10061299|OMIMPS:131100|Orphanet:276161|SCTID:46724008|ICD10:D44.8 owl:Class HGNC:29086 biolink:NamedThing CEP135 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009523 biolink:NamedThing mesenchyme of handplate Mesenchyme that is part of a handplate. tmpak2llvmy_mondo_relaxed.owl hand plate mesenchyme|handplate mesenchyme owl:Class MONDO:0008830 biolink:NamedThing aspartylglucosaminuria Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). tmpak2llvmy_mondo_relaxed.owl aspartylglucosaminuria|aspartylglucosaminidase deficiency|Glycoasparaginase|glycosylasparaginase deficiency|Aspartylglucosamidase (AGA) deficiency|aspartylglycosaminuria|AGU|Aga deficiency GARD:0005854|MESH:D054880|MedDRA:10068220|Orphanet:93|OMIM:208400|DOID:0050461|NCIT:C61273|ICD10:E77.1|SCTID:54954004|UMLS:C0268225 owl:Class GO:2000727 biolink:NamedThing positive regulation of cardiac muscle cell differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl positive regulation of heart muscle cell differentiation|positive regulation of cardiomyocyte differentiation owl:Class MONDO:0003185 biolink:NamedThing adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpak2llvmy_mondo_relaxed.owl mammary adenocystic carcinoma|breast adenoid cystic carcinoma|adenocystic carcinoma of breast|mammary adenoid cystic carcinoma|adenocystic carcinoma of the breast|adenoid cystic breast carcinoma|adenoid cystic breast cancer|adenoid cystic carcinoma of the breast|adenoid cystic carcinoma of breast|adenocystic breast carcinoma DOID:4877|ONCOTREE:ACBC|UMLS:C1332167|NCIT:C5130|EFO:1000071 owl:Class MONDO:0004988 biolink:NamedThing breast adenocarcinoma A carcinoma that arises from glandular epithelial cells of the breast tmpak2llvmy_mondo_relaxed.owl mammary adenocarcinoma|breast adenocarcinoma|adenocarcinoma of the breast|adenocarcinoma of breast NCIT:C5214|EFO:0000304|DOID:3458 owl:Class HGNC:8140 biolink:NamedThing OPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009532 biolink:NamedThing Miller-Dieker lissencephaly syndrome A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. tmpak2llvmy_mondo_relaxed.owl Miller-Dieker lissencephaly syndrome|chromosome 17P13.3 deletion syndrome|MDLS|monosomy 17p13.3|Miller-Dieker syndrome|telomeric deletion 17p|lissencephaly due to 17p13.3 deletion|Miller-Dieker syndrome chromosome region NCIT:C124852|ICD9:758.33|GARD:0003669|MedDRA:10068361|OMIM:247200|DOID:0060469|SCTID:253148005|UMLS:C0265219|ICD10:Q04.3|Orphanet:531 owl:Class MONDO:0013868 biolink:NamedThing porokeratosis 7, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl porokeratosis 7, disseminated superficial actinic type|POROK7|porokeratosis 7, multiple types OMIM:614714 owl:Class MONDO:0019212 biolink:NamedThing disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. tmpak2llvmy_mondo_relaxed.owl GARD:0010983|ICD10:Q82.8|SCTID:41495000|ICD9:692.75|Orphanet:79152 owl:Class UBERON:0001915 biolink:NamedThing endothelium of capillary An endothelium that is part of a capillary [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl endothelium of capillary vessel|blood capillary endothelium|capillary endothelium|endothelium of blood capillary|capillary vessel endothelium owl:Class UBERON:0004638 biolink:NamedThing blood vessel endothelium An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013326 biolink:NamedThing Senior-Loken syndrome 7 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpak2llvmy_mondo_relaxed.owl Senior-Loken syndrome 7|SENIOR-Loken syndrome 7|SDCCAG8 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in SDCCAG8|Senior-Loken syndrome type 7|SLSN7 UMLS:C3150877|OMIM:613615 owl:Class HGNC:4699 biolink:NamedThing GYG1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002313 biolink:NamedThing endocrine-paracrine cell of prostate gland An ecto-epithelial cell of the prostate gland that secretes hormones. tmpak2llvmy_mondo_relaxed.owl neuro-epithelial cell of prostate gland|glandular cell of prostate CALOHA:TS-1280|FMA:74390|FMA:86774 tmeehan 2010-09-14T03:01:58Z cell owl:Class UBERON:0001532 biolink:NamedThing internal carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP] tmpak2llvmy_mondo_relaxed.owl ICA|cranial carotid artery|internal carotid|arteria carotis interna owl:Class GO:0030198 biolink:NamedThing extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. tmpak2llvmy_mondo_relaxed.owl extracellular matrix organization and biogenesis|extracellular matrix organisation owl:Class GO:0045229 biolink:NamedThing external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. tmpak2llvmy_mondo_relaxed.owl external encapsulating structure organization and biogenesis|external encapsulating structure organisation owl:Class MONDO:0010187 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 1 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. tmpak2llvmy_mondo_relaxed.owl congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|FMFD 3|hereditary combined deficiency of factors II, VII, IX and X|familial multiple coagulation Factor deficiency 3|factors II, VII, IX, and X, combined deficiency of|VKCFD1|glutamic acid, deficient gamma-carboxylation of|Vkcfd|vitamin K-dependent clotting factors, combined deficiency of, 1|vitamin K-dependent clotting factors, combined deficiency of, type 1|hereditary combined deficiency of vitamin K-dependent clotting factors|vitamin K-dependent coagulation defect|multiple coagulation Factor deficiency 3 MESH:C564741|OMIM:277450|Orphanet:98434|ICD10:D68.2|UMLS:C1848534|SCTID:724356003 owl:Class MONDO:0014676 biolink:NamedThing Emery-Dreifuss muscular dystrophy 3, autosomal recessive Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|EMERY-Dreifuss muscular dystrophy 3, autosomal recessive|Emery-Dreifuss muscular dystrophy 3, autosomal recessive|EDMD3|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy OMIM:616516|DOID:0070248|UMLS:C2750035|MESH:C567633 owl:Class MONDO:0008406 biolink:NamedThing autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive form of Emery-Dreifuss muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl EDMD3|Emery-Dreifuss muscular dystrophy, autosomal recessive ICD10:G71.0|Orphanet:98855 owl:Class GO:0022603 biolink:NamedThing regulation of anatomical structure morphogenesis Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of morphogenesis owl:Class MONDO:0020801 biolink:NamedThing rectal medullary carcinoma A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl rectal medullary carcinoma NCIT:C60640 owl:Class MONDO:0007515 biolink:NamedThing ectopia pupillae tmpak2llvmy_mondo_relaxed.owl congenital eye malformation in which the pupils are displaced from their normal central position|ectopia pupillae (disease)|familial ectopic pupil|ectopia pupillae ectopia pupillae (disease) OMIM:129750|GARD:0008490|MESH:C536185|SCTID:193523008|HP:0009918 owl:Class MONDO:0009446 biolink:NamedThing ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|Passwell-Goodman-Siprkowski syndrome|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis, mental retardation, dwarfism and renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment GARD:0004641|MESH:C536274|Orphanet:2278|UMLS:C1855787|OMIM:242530 owl:Class OBO:CHR_9606-chr17q12 biolink:NamedThing chr17q12 (Human) tmpak2llvmy_mondo_relaxed.owl 39800000 33500000 hg38 owl:Class HGNC:10597 biolink:NamedThing SCN9A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001763 biolink:NamedThing morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. tmpak2llvmy_mondo_relaxed.owl branching morphogenesis owl:Class UBERON:4200172 biolink:NamedThing neck of humerus tmpak2llvmy_mondo_relaxed.owl anatomic neck of humerus|collum anatomicum (Humerus)|collum anatomicum humeri|humeral neck owl:Class GO:0005216 biolink:NamedThing ion channel activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014465 biolink:NamedThing primary ciliary dyskinesia 30 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. tmpak2llvmy_mondo_relaxed.owl CILD30|CCDC151 primary ciliary dyskinesia|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia 30 without situs inversus|primary ciliary dyskinesia type 30|ciliary dyskinesia, primary, type 30|primary ciliary dyskinesia caused by mutation in CCDC151|ciliary dyskinesia, primary, 30, with or without situs inversus UMLS:C4015016|ICD10:Q34.8|OMIM:616037|DOID:0110624 owl:Class MONDO:0025506 biolink:NamedThing porcine postweaning multisystemic wasting syndrome A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2. tmpak2llvmy_mondo_relaxed.owl postweaning multisystemic wasting syndrome, porcine MESH:D053570|UMLS:C1721016 owl:Class MONDO:0011759 biolink:NamedThing Hurler-Scheie syndrome Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpak2llvmy_mondo_relaxed.owl MPS1-HS|mucopolysaccharidosis type 1H/S|MPSIH/S|MPS I H-S|mucopolysaccharidosis type I mild form|Hurler–Scheie syndrome|mucopolysaccharidosis type I-S|mucopolysaccharidosis type IH/S|MPS1H/S|mucopolysaccharidosis IH/S|mucopolysaccharidosis type Ih/S|Hurler-Scheie syndrome|l-iduronidase deficiency, Scheie type|Scheie disease mps type 1s|Scheie's syndrome|mucopolysaccharidosis, mps-I-s NCIT:C122782|OMIM:607015|DOID:0111389|Orphanet:93476|SCTID:73123008|UMLS:C0086431|ICD10:E76.0|MedDRA:10056916|GARD:0012560 owl:Class MONDO:0011616 biolink:NamedThing holoprosencephaly 6 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. tmpak2llvmy_mondo_relaxed.owl HPE6|holoprosencephaly type 6|holoprosencephaly 6 MESH:C565274|OMIM:605934|DOID:0110874|UMLS:C1853830 owl:Class MONDO:0017570 biolink:NamedThing leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. tmpak2llvmy_mondo_relaxed.owl LAD|congenital leukocyte adherence deficiency NCIT:C27874|ICD10:D84.8|UMLS:C0272187|DOID:6612|Orphanet:2968|GARD:0009544|SCTID:77358003 owl:Class UBERON:0003635 biolink:NamedThing pedal digit 5 5th digit of the hind autopod. tmpak2llvmy_mondo_relaxed.owl digitus quintus (V) pedis|hind limb digit 5|hind digit 5|digitus quintus [V]|foot digit 5|hind digit V|little toe|pes digit V|digitus quintus of pes|digit 5 of hind-paw|fifth toe|toe 5|digitus minimus pedis|pedal digit V|digitus minimus; digitus quintus [v]|fifth digit of foot|pedal digitus minimus|digitus quintus [V] pedis|5th toe|digitus quintus pedis|digitus V of pes owl:Class UBERON:0006052 biolink:NamedThing digit 5 A digit that is part of a digit 5 plus metapodial segment. tmpak2llvmy_mondo_relaxed.owl limb digit 5|digit V|autopod digit 5|fifth digit|digiti minimi owl:Class MONDO:0002108 biolink:NamedThing thyroid cancer A malignant neoplasm involving the thyroid gland tmpak2llvmy_mondo_relaxed.owl malignant thyroid neoplasm|malignant tumor of thyroid|malignant thyroid gland neoplasm|neoplasm of thyroid gland|malignant neoplasm of thyroid gland|malignant tumour of thyroid gland|malignant tumor of thyroid gland|malignant tumor of the thyroid gland|thyroid gland neoplasm|thyroid gland cancer|malignant neoplasm of thyroid|malignant tumor of the thyroid|malignant neoplasm of the thyroid gland|cancer of thyroid gland|malignant neoplasm of the thyroid|malignant thyroid tumor|malignant thyroid gland tumor UMLS:CN221577|NCIT:C7510|DOID:1781|KEGG:05216|ICD10:C73|ICD9:193|SCTID:363478007 owl:Class CHEBI:30089 biolink:NamedThing acetate A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. tmpak2llvmy_mondo_relaxed.owl CH3-COO(-)|ACETATE ION|Azetat|acetic acid, ion(1-)|ethanoate|acetate|Ethanoat|MeCO2 anion owl:Class CHEBI:35757 biolink:NamedThing monocarboxylic acid anion A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. tmpak2llvmy_mondo_relaxed.owl Monocarboxylate|monocarboxylates|a monocarboxylate|monocarboxylic acid anions|Carboxylate owl:Class GO:0034755 biolink:NamedThing iron ion transmembrane transport A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl high-affinity ferrous ion transmembrane transport|transmembrane iron transport|low affinity iron ion transport|high-affinity iron ion transmembrane transport|ferrous ion transmembrane transport|ferrous iron transmembrane transport|high affinity ferrous ion transmembrane transport|iron ion membrane transport|high-affinity iron ion transport|low-affinity iron ion transport|low-affinity iron ion transmembrane transport|iron(2+) transmembrane transport|high affinity iron ion transport owl:Class GO:0006826 biolink:NamedThing iron ion transport The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl ferric iron import|ferric iron transport|ferric ion import|iron ion import|ferrous iron transport|ferric ion transport|ferric iron uptake|ferrous ion transport|iron transport owl:Class GO:0044145 biolink:NamedThing modulation of formation of structure involved in a symbiotic process Any process that modulates the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpak2llvmy_mondo_relaxed.owl modulation of development of symbiont involved in interaction with host|modulation of development of symbiont during interaction with host owl:Class MONDO:0005970 biolink:NamedThing staphylococcal pneumonia Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. tmpak2llvmy_mondo_relaxed.owl Staphylococcus pneumonia|Staphylococcus caused pneumonia ICD9:482.40|ICD9:482.49|EFO:0007496|MESH:D011023|ICD9:482.4|SCTID:22754005 owl:Class MONDO:0024313 biolink:NamedThing staphylococcal infection An infection caused by Staphylococcus. tmpak2llvmy_mondo_relaxed.owl staphylococcal infection NCIT:C35038|MESH:D013203|SCTID:56038003 owl:Class MONDO:0021652 biolink:NamedThing diffuse type adenocarcinoma An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl diffuse type carcinoma|diffuse type adenocarcinoma NCIT:C4127|ICDO:8145/3 owl:Class HP:0001974 biolink:NamedThing Leukocytosis An abnormal increase in the number of leukocytes in the blood. tmpak2llvmy_mondo_relaxed.owl Increased blood leukocyte number|Elevated white blood count|High white blood count SNOMEDCT_US:111583006|MSH:D007964|UMLS:C0023518 human_phenotype owl:Class MONDO:0002481 biolink:NamedThing ovarian neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl ovary neuroendocrine neoplasm|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|ovary NET|neuroendocrine neoplasm of ovary|neuroendocrine tumor of ovary|neuroendocrine neoplasm of the ovary|ovary neuroendocrine tumor|ovarian neuroendocrine neoplasm NCIT:C5237|UMLS:C1335172|DOID:3002 owl:Class MONDO:0015412 biolink:NamedThing median facial cleft tmpak2llvmy_mondo_relaxed.owl Tessier number 0-14 and 30 facial cleft|Midline facial cleft Orphanet:141234|ICD10:Q18.8 owl:Class MONDO:0007478 biolink:NamedThing autosomal dominant Kenny-Caffey syndrome An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. tmpak2llvmy_mondo_relaxed.owl dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|Kenny-Caffey syndrome, autosomal dominant|Kenny syndrome|Kenny-Caffey syndrome type 2|dwarfism, cortical thickening of tubular bones and transient hypocalcemia|KCS2|Kenny-Caffey syndrome, type 2 ICD10:Q87.1|GARD:0000083|UMLS:CN031291|NCIT:C130993|Orphanet:93325|OMIM:127000 https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 owl:Class MONDO:0016516 biolink:NamedThing Kenny-Caffey syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. tmpak2llvmy_mondo_relaxed.owl Kenny syndrome Orphanet:2333|UMLS:C0265291|MESH:C537020|SCTID:82837002|NCIT:C130991|ICD9:759.89|OMIMPS:127000|ICD10:Q87.1 owl:Class MONDO:0006718 biolink:NamedThing cutaneous syphilis Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) tmpak2llvmy_mondo_relaxed.owl Treponema pallidum caused skin disease caused by bacterial infection|Treponema pallidum skin disease caused by bacterial infection MESH:D013591|ICD10:A50.06|EFO:1000887 owl:Class MONDO:0002532 biolink:NamedThing squamous cell neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. tmpak2llvmy_mondo_relaxed.owl squamous cell tumor|squamous cell tumor (qualifier value)|epidermoid cell neoplasm|epidermoid cell tumor|squamous cell neoplasm DOID:3168|NCIT:C3792|UMLS:C0206720|MESH:D018307 owl:Class MONDO:0009140 biolink:NamedThing Silverman-Handmaker type dyssegmental dysplasia Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. tmpak2llvmy_mondo_relaxed.owl dyssegmental dysplasia Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism Silverman-Handmaker type|DDSH MESH:C537998|ICD10:Q77.7|DOID:0090032|GARD:0002026|SCTID:93132001|ICD9:759.89|Orphanet:1865|OMIM:224410 https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type owl:Class MONDO:0019689 biolink:NamedThing perlecan-related bone disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:93424|UMLS:CN227675 owl:Class GO:0000098 biolink:NamedThing sulfur amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. tmpak2llvmy_mondo_relaxed.owl sulfur amino acid breakdown|sulphur amino acid catabolism|sulphur amino acid catabolic process|sulfur amino acid catabolism|sulfur amino acid degradation owl:Class GO:0016054 biolink:NamedThing organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl organic acid degradation|organic acid catabolism|organic acid breakdown owl:Class MONDO:0017739 biolink:NamedThing disorder of lysosomal-related organelles tmpak2llvmy_mondo_relaxed.owl Orphanet:309340|UMLS:CN227186 owl:Class NCBITaxon:10255 biolink:NamedThing Variola virus tmpak2llvmy_mondo_relaxed.owl small pox virus|variola virus VAR|smallpox virus|smallpox GC_ID:1 NCBITaxon:12871 ncbi_taxonomy owl:Class NCBITaxon:10242 biolink:NamedThing Orthopoxvirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006950 biolink:NamedThing retinal vasculitis Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. tmpak2llvmy_mondo_relaxed.owl retinal vasculitis MESH:D031300|MedDRA:10038905|ICD10:H35.06|EFO:1001156|DOID:11563|ICD9:362.18|UMLS:C0152026|SCTID:77628002 owl:Class MONDO:0015067 biolink:NamedThing neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. tmpak2llvmy_mondo_relaxed.owl carcinoid tumor of colon|NET of the colon|colonic NET|neuroendocrine neoplasm of the colon|colon neuroendocrine tumor NCIT:C135212 owl:Class MONDO:0017054 biolink:NamedThing thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. tmpak2llvmy_mondo_relaxed.owl thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency|thiamine-responsive BCKD deficiency|thiamine-responsive MSUD|thiamine-responsive maple syrup urine disease ICD10:E71.0|Orphanet:268184 owl:Class MONDO:0009563 biolink:NamedThing maple syrup urine disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. tmpak2llvmy_mondo_relaxed.owl maple syrup urine disease, intermittent|MSUD|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, classic|maple syrup urine disease, Intermediate|maple syrup urine disease, type 1A|dihydrolipoamide dehydrogenase deficiency|branched chain ketoaciduria|maple syrup urine disease, type 1B|BCKDH deficiency|branched-chain 2-ketoacid dehydrogenase deficiency|branched-chain Alpha-Keto acid dehydrogenase deficiency|maple syrup urine disease, type 2|maple syrup urine disease|Ketoacidaemia|Keto acid decarboxylase deficiency|branched-chain ketoaciduria|BCKD deficiency GARD:0003228|UMLS:C0024776|MedDRA:10026817|NCIT:C34806|OMIMPS:248600|DOID:9269|Orphanet:511|OMIM:248600|SCTID:27718001|ICD10:E71.0|MESH:D008375 Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct owl:Class MONDO:0007329 biolink:NamedThing cirrhosis, familial Cirrhosis in which no causative agent can be identified. tmpak2llvmy_mondo_relaxed.owl cirrhosis, familial, with pulmonary hypertension|cirrhosis, Noncryptogenic, susceptibility to|Sen syndrome|cirrhosis, familial|Indian childhood cirrhosis|cryptogenic cirrhosis|copper toxicosis, idiopathic|hereditary cirrhosis of liver|copper-overload cirrhosis|endemic Tyrolean infantile cirrhosis|cirrhosis, cryptogenic NCIT:C84411|OMIM:215600|SCTID:6183001 owl:Class MONDO:0020342 biolink:NamedThing congenital myopathy with excess of thin filaments tmpak2llvmy_mondo_relaxed.owl actin myopathy Orphanet:98904|MESH:C579880|ICD10:G71.2 owl:Class MONDO:0016193 biolink:NamedThing qualitative or quantitative defects of alpha-actin tmpak2llvmy_mondo_relaxed.owl Orphanet:209059 owl:Class MONDO:0020780 biolink:NamedThing cone-rod dystrophy and hearing loss 2 tmpak2llvmy_mondo_relaxed.owl CONE-ROD DYSTROPHY AND HEARING LOSS 2|CRDHL2 OMIM:618358 owl:Class MONDO:0006846 biolink:NamedThing malignant hypertension Severe hypertension that is characterized by rapid onset of extremely high blood pressure. tmpak2llvmy_mondo_relaxed.owl accelerated-malignant hypertension|malignant phase hypertension|MHT|hypertensive emergency UMLS:C0020540|SCTID:70272006|MESH:D006974|EFO:1001031|MedDRA:10025600|DOID:10824|UMLS:C0745136 owl:Class MONDO:0001737 biolink:NamedThing tetanus neonatorum A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. tmpak2llvmy_mondo_relaxed.owl neonatal tetanus ICD9:771.3|DOID:13521|ICD10:A33|NCIT:C116814|SCTID:43424001|UMLS:C0343312 owl:Class MONDO:0005526 biolink:NamedThing tetanus A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. tmpak2llvmy_mondo_relaxed.owl Clostridium tetani caused infectious disease of the nervous system|clostridial tetanus|Clostridium tetani infectious disease of the nervous system|infection due to Clostridium tetani|lockjaw ICD10:A33|MESH:D013742|SCTID:276202003|SCTID:76902006|ICD10:A34|ICD10:A35|UMLS:C0039614|GARD:0005144|Orphanet:3299|DOID:11338|ICD9:037|NCIT:C85185|EFO:0005593|MedDRA:10043376 We treat tetanus and infection due to Clostridium tetani as synonymous https://rarediseases.info.nih.gov/diseases/5144/tetanus owl:Class CL:0008017 biolink:NamedThing adult skeletal muscle myoblast A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers. tmpak2llvmy_mondo_relaxed.owl myogenic precursor cell The vast majority of these cells develop from skeletal muscle satellite cells, although there are some reports of other origins. cell owl:Class CL:0000056 biolink:NamedThing myoblast A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0650|BTO:0000222|FBbt:00005083|FMA:70335|VHOG:0001529 cell owl:Class CHEBI:145795 biolink:NamedThing digoxin(1-) An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl digoxin|12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside|digoxin anion owl:Class MONDO:0014485 biolink:NamedThing pontocerebellar hypoplasia, type 1C Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene. tmpak2llvmy_mondo_relaxed.owl EXOSC8 pontocerebellar hypoplasia type 1|PCH1C|pontocerebellar hypoplasia, type 1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia OMIM:616081|UMLS:C4015160 owl:Class MONDO:0016396 biolink:NamedThing pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. tmpak2llvmy_mondo_relaxed.owl PCH1|Norman disease|MRT32|mental retardation, autosomal recessive 32 SCTID:718610008|Orphanet:2254|MESH:C548069|UMLS:C1843504|OMIM:614339|ICD10:Q04.3|GARD:0010704 owl:Class GO:0032892 biolink:NamedThing positive regulation of organic acid transport Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl activation of organic acid transport|up-regulation of organic acid transport|upregulation of organic acid transport|stimulation of organic acid transport|up regulation of organic acid transport owl:Class UBERON:0034722 biolink:NamedThing mouth roof taste bud A taste bud that is located on the roof of the mouth. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060761 biolink:NamedThing neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum|NEDEHCC OMIM:618090 owl:Class GO:0006662 biolink:NamedThing glycerol ether metabolic process The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpak2llvmy_mondo_relaxed.owl glycerol ether metabolism owl:Class GO:0018904 biolink:NamedThing ether metabolic process The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. tmpak2llvmy_mondo_relaxed.owl organic ether metabolism|organic ether metabolic process|ether metabolism owl:Class MONDO:0009221 biolink:NamedThing femur-fibula-ulna complex Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal. tmpak2llvmy_mondo_relaxed.owl PFFD|femur-fibula-ulna dysostosis|Ffu syndrome|femur-fibula-ulna syndrome|FFU complex|femur fibula ulna syndrome UMLS:C1856790|GARD:0002286|MedDRA:10068448|Orphanet:2019|ICD10:Q74.8|MESH:C537918|OMIM:228200 owl:Class HP:0001298 biolink:NamedThing Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:81308009|MSH:D001927|UMLS:C0085584 This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. human_phenotype owl:Class UBERON:0006589 biolink:NamedThing round ligament of uterus The round ligament of the uterus originates at the uterine horns, in the parametrium. It leaves the pelvis via the deep inguinal ring, passes through the inguinal canal and continues on to the labia majora where its fibers spread and mix with the tissue of the mons pubis[WP]. A fibromuscular band that attaches to the uterus and then passes along the broad ligament, out through the inguinal ring, and into the labium majus[MESH]. tmpak2llvmy_mondo_relaxed.owl ligamentum teres of uterus|ligamentum teres uteri|Hunter's ligament|round ligament of the uterus|round ligament owl:Class MONDO:0015759 biolink:NamedThing B-cell non-Hodgkin lymphoma The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 tmpak2llvmy_mondo_relaxed.owl B-cell non-Hodgkin's lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|B-cell lymphoma|non-Hodgkin's B-cell lymphoma|B-cell non-Hodgkin lymphoma|lymphomas non-Hodgkin's B-cell|B-cell non Hodgkin's lymphoma Orphanet:171915|NCIT:C3457 owl:Class MONDO:0004095 biolink:NamedThing B-cell neoplasm A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. tmpak2llvmy_mondo_relaxed.owl lymphoma, B-cell|B-cell lymphoma|B-cell neoplasm|B-cell lymphocytic neoplasm NCIT:C27907|MESH:D016393|DOID:707|GARD:0005877 https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma owl:Class UBERON:0014881 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 1 A distal epiphysis that is part of a distal phalanx of manual digit 1. tmpak2llvmy_mondo_relaxed.owl ungual tuberosity of distal phalanx of thumb|distal epiphysis of distal phalanx of manual digit I|head of distal phalanx of thumb|head of distal phalanx of first digit of hand|distal end of phalanx of right thumb|distal epiphysis of distal phalanx of thumb owl:Class MONDO:0016028 biolink:NamedThing erythromelalgia Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. tmpak2llvmy_mondo_relaxed.owl MedDRA:10015284|NCIT:C34593|ICD10:I73.8|Orphanet:1956|UMLS:C0014804|DOID:9240|SCTID:37151006|ICD9:443.82|ICD10:I73.81|MESH:D004916 owl:Class MONDO:0005294 biolink:NamedThing peripheral vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. tmpak2llvmy_mondo_relaxed.owl peripheral vascular disorder|disease, peripheral vascular|arterial occlusive disease|vascular disease, peripheral EFO:0003875|NCIT:C35136|MESH:D016491|ICD9:443.81|DOID:341 owl:Class MONDO:0002404 biolink:NamedThing liver hemangioma A hemangioma arising from the liver. tmpak2llvmy_mondo_relaxed.owl hemangioma of the liver|hepatic hemangioma|liver angioma|hepatic angioma|angioma of liver|angioma of the liver|hemangioma of liver|liver hemangioma NCIT:C3869|SCTID:93469006|UMLS:C0238246|DOID:271 owl:Class MONDO:0004725 biolink:NamedThing rectum carcinoma in situ A in situ carcinoma that involves the rectum. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of the rectum|stage 0 carcinoma of rectum|stage 0 rectal cancer aJCC v6 and v7|severe dysplasia of the rectum|severe dysplasia of rectum|carcinoma in situ of rectum|stage 0 rectal cancer aJCC v7|stage 0 rectal carcinoma|stage 0 rectal cancer|marked dysplasia of rectum|rectal carcinoma in situ|marked dysplasia of the rectum|severe rectal dysplasia|stage 0 carcinoma of the rectum|rectum in situ carcinoma|marked rectal dysplasia|stage 0 rectal cancer aJCC v6|stage 0 rectum carcinoma NCIT:C4853|ICD10:D01.2|ICD9:230.4|DOID:9174|SCTID:308879003|UMLS:C0154062 owl:Class UBERON:0001112 biolink:NamedThing latissimus dorsi muscle The latissimus dorsi is the larger, flat, dorso-lateral muscle on the trunk, posterior to the arm, and partly covered by the trapezius on its median dorsal region. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl latissimus dorsi|musculus latissimus dorsi|dorsal latissimus muscle|latissimi dorsi owl:Class HGNC:7464 biolink:NamedThing MTNR1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016005 biolink:NamedThing indomethacin embryofetopathy Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. tmpak2llvmy_mondo_relaxed.owl antenatal indomethacin exposure|fetal indomethacin syndrome UMLS:CN200656|GARD:0002994|SCTID:715430001|UMLS:C4275138|Orphanet:1909|ICD10:Q86.8 owl:Class MONDO:0019771 biolink:NamedThing oromandibular dystonia Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. tmpak2llvmy_mondo_relaxed.owl DOID:0050843|ICD10:G24.4|Orphanet:93958|UMLS:C0393607 owl:Class HP:0500165 biolink:NamedThing Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. tmpak2llvmy_mondo_relaxed.owl Abnormal blood oxygen levels|Abnormal blood O2 level|Abnromal O2 blood concentration 2018-10-17 15:14:35+00:00 http://orcid.org/0000-0001-7941-2961 human_phenotype owl:Class HP:0012415 biolink:NamedThing Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. tmpak2llvmy_mondo_relaxed.owl Abnormal blood gas level SNOMEDCT_US:312391003|UMLS:C0476337 peter 2013-11-10T04:59:20Z human_phenotype owl:Class UBERON:0001886 biolink:NamedThing choroid plexus A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. tmpak2llvmy_mondo_relaxed.owl choroid plexus of cerebral hemisphere|ventricular choroid plexus|plexus choroideus|chorioid plexus|CP owl:Class OBO:CHR_9606-chr9q34 biolink:NamedThing chr9q34 (Human) tmpak2llvmy_mondo_relaxed.owl 138394717 127500000 hg38 owl:Class FOODON:00001172 biolink:NamedThing nut food product tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F16972 The default nut product is a whole, raw nut - meaning that the kernel is whole, and moderately or significantly dried, but not baked. Minimal references to nuts often leave ambiguous whether the shell is on or off. "I ate a peanut" doesn't clarify whether I ate a shell-off nut or whether I did the shelling. Damion Dooley owl:Class FOODON:00001262 biolink:NamedThing botanical fruit food product Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032868 biolink:NamedThing response to insulin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpak2llvmy_mondo_relaxed.owl response to insulin stimulus owl:Class GO:0043434 biolink:NamedThing response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpak2llvmy_mondo_relaxed.owl response to polypeptide hormone stimulus|response to peptide hormone stimulus owl:Class GO:1902019 biolink:NamedThing regulation of cilium-dependent cell motility Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. tmpak2llvmy_mondo_relaxed.owl regulation of ciliary cell motility|regulation of cilium cell motility owl:Class MONDO:0013359 biolink:NamedThing familial hyperaldosteronism type III Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. tmpak2llvmy_mondo_relaxed.owl HALD3|hyperaldosteronism, familial, type III|familial hyperaldosteronism type 3|FH 3|FH III|FH3|FH-III|hyperaldosteronism, familial, type 3 OMIM:613677|Orphanet:251274|GARD:0012362|UMLS:C3838758|ICD10:E26.0|UMLS:C3150933|SCTID:703234002 owl:Class NCBITaxon:12091 biolink:NamedThing Hepatovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014930 biolink:NamedThing perivascular space The space between a blood vessel and the pia mater. tmpak2llvmy_mondo_relaxed.owl perivascular region|VRS|Virchow-Robin space|perivascular spaces owl:Class MONDO:0002564 biolink:NamedThing jejunal neoplasm A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. tmpak2llvmy_mondo_relaxed.owl tumor of the jejunum|neoplasm of jejunum|jejunum tumor|jejunum neoplasm (disease)|jejunum neoplasm|tumor of jejunum|neoplasm of the jejunum|jejunal tumor NCIT:C8401|DOID:3218|UMLS:C0022374|MESH:D007580|SCTID:126834003 owl:Class MONDO:0022815 biolink:NamedThing congenital absence of the sternocleidomastoid muscle tmpak2llvmy_mondo_relaxed.owl MESH:C535977|GARD:0009972|UMLS:C2931075 https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle owl:Class MONDO:0001876 biolink:NamedThing renal artery atheroma A atherosclerosis that involves the renal artery. tmpak2llvmy_mondo_relaxed.owl renal atherosclerosis|renal artery atherosclerosis|atherosclerosis of renal artery ICD10:I70.1|ICD9:440.1|SCTID:45281005|UMLS:C0155734|DOID:14092 owl:Class MONDO:0005311 biolink:NamedThing atherosclerosis Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. tmpak2llvmy_mondo_relaxed.owl atherosclerosis of artery|atherosclerosis artery|atherosclerotic cardiovascular disease ICD9:440|ICD10:I70|EFO:0003914|DOID:1936|NCIT:C35768|ICD10:I25.1|SCTID:441574008|MESH:D050197|ICD9:440.8|NCIT:C35771 Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here owl:Class CHEBI:25414 biolink:NamedThing monoatomic monocation tmpak2llvmy_mondo_relaxed.owl monovalent inorganic cations|monoatomic monocations owl:Class CHEBI:23906 biolink:NamedThing monoatomic cation tmpak2llvmy_mondo_relaxed.owl monoatomic cations owl:Class CHEBI:22313 biolink:NamedThing alkaline earth metal atom tmpak2llvmy_mondo_relaxed.owl metal alcalinoterreo|Erdalkalimetall|metal alcalino-terreux|alkaline-earth metal|metaux alcalino-terreux|metales alcalinoterreos|alkaline earth metals|Erdalkalimetalle|alkaline-earth metals|alkaline earth metal owl:Class CHEBI:33559 biolink:NamedThing s-block element atom tmpak2llvmy_mondo_relaxed.owl s-block element|s-block elements owl:Class UBERON:0008115 biolink:NamedThing surface of cartilage A anatomical surface that is part of a cartilage element. tmpak2llvmy_mondo_relaxed.owl cartilage surface owl:Class MONDO:0001787 biolink:NamedThing hepatic infarction tmpak2llvmy_mondo_relaxed.owl infarct of liver ICD10:K76.3|ICD9:573.4|SCTID:17890003|DOID:13738|UMLS:C0151731 owl:Class HGNC:8773 biolink:NamedThing PDE11A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024523 biolink:NamedThing aortic valve disease 1 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. tmpak2llvmy_mondo_relaxed.owl aortic valve, bicuspid|aortic valve disease|bicuspid aortic valve|aortic valve disease 1|AOVD1|aortic valve, calcification of|aortic valve disease caused by mutation in Notch1|NOTCH1 aortic valve disease|Notch1 aortic valve disease|aortic stenosis, calcific|aortic valve disease caused by mutation in NOTCH1 DOID:0080333|OMIM:109730|UMLS:C3887892 owl:Class MONDO:0007194 biolink:NamedThing familial bicuspid aortic valve Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). tmpak2llvmy_mondo_relaxed.owl familial BAV|aortic valve disease 1|AOVD1|aortic valve disease type 1 Orphanet:402075|ICD10:Q23.1|OMIMPS:109730|DOID:0080332 owl:Class MONDO:0000295 biolink:NamedThing acanthocephaliasis An disease or disorder caused by infection with Acanthocephala. tmpak2llvmy_mondo_relaxed.owl infection by Acanthocephala|Acanthocephala infectious disease|disease due to Acanthocephala|disease caused by Acanthocephala|infection by thorny-headed worm|Acanthocephala disease or disorder|Acanthocephala caused disease or disorder UMLS:C0277331|SCTID:105713003|DOID:0050254 owl:Class UBERON:0003509 biolink:NamedThing arterial blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0001028 biolink:NamedThing CD7-positive lymphoid progenitor cell CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative. tmpak2llvmy_mondo_relaxed.owl CD7-positive lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000040)(PMID:19243617). cell owl:Class MONDO:0015437 biolink:NamedThing ring chromosome 21 Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. tmpak2llvmy_mondo_relaxed.owl chromosome 21 en anneau|Ring 21|Ring chromosome type 21|chromosome 21 ring|R21|Ring chromosome 21 syndrome Orphanet:1445|GARD:0006083|SCTID:31325007|MESH:C537109|UMLS:CN037252|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 owl:Class MONDO:0015692 biolink:NamedThing refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. tmpak2llvmy_mondo_relaxed.owl RAEB-t UMLS:CN200189|ICD10:D46.3|ICD9:238.73|MedDRA:10038271|SCTID:110000005|NCIT:C27080|Orphanet:168960|UMLS:C0280028|ICDO:9984/3 owl:Class MONDO:0012368 biolink:NamedThing aminoacylase 1 deficiency Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. tmpak2llvmy_mondo_relaxed.owl ACY1D|neurological conditions associated with aminoacylase 1 deficiency|aminoacylase 1 deficiency|N-acyl-L-amino acid amidohydrolase deficiency|ACY1 deficiency|deficiency of the aminoacylase-1 enzyme Orphanet:137754|ICD9:270.8|GARD:0009741|ICD10:E72.8|SCTID:709282004|MESH:C538246|EFO:1001981|UMLS:C1835922|OMIM:609924 https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency owl:Class MONDO:0017686 biolink:NamedThing inborn aminoacylase deficiency An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity. tmpak2llvmy_mondo_relaxed.owl inborn aminoacylase activity disorder|rare inborn error of aminoacylase activity|inborn error of aminoacylase activity|aminoacylase deficiency Orphanet:308448 owl:Class UBERON:0007619 biolink:NamedThing limiting membrane of retina tmpak2llvmy_mondo_relaxed.owl retina lamina owl:Class UBERON:0001781 biolink:NamedThing layer of retina Any of the layers that make up the retina[MP]. tmpak2llvmy_mondo_relaxed.owl retinal neuronal layer|retina layer|retina neuronal layer|retinal layer owl:Class MONDO:0006515 biolink:NamedThing acute pancreatitis An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. tmpak2llvmy_mondo_relaxed.owl acute necrotizing pancreatitis|acute pancreatitis (disorder) [ambiguous]|pancreatitis, acute|pancreatitis necrotizing EFO:1000652|ICD10:K85.9|MESH:D019283|ICD9:577.0|NCIT:C95437|UMLS:C0001339|ICD10:K85|HP:0001735|SCTID:7881005|Wikipedia:Acute_pancreatitis|DOID:2913|UMLS:C0267941 owl:Class MONDO:0009253 biolink:NamedThing Fryns syndrome Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. tmpak2llvmy_mondo_relaxed.owl Fryns syndrome|Moerman Van den Berghe Fryns syndrome|FRNS|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|diaphragmatic hernia, abnormal face, and distal limb anomalies SCTID:702432006|UMLS:C0220730|ICD9:759.89|NCIT:C98932|GARD:0003699|ICD10:Q87.8|OMIM:229850|Orphanet:2059|MESH:C538070 https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome owl:Class MONDO:0012064 biolink:NamedThing choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. tmpak2llvmy_mondo_relaxed.owl choanal atresia deafness cardiac defects dysmorphism|oculootofacial dysplasia|BMKS|bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance|Burn-McKeown syndrome ICD10:Q87.8|MESH:C563682|UMLS:C1835913|Orphanet:1200|OMIM:608572|GARD:0010041 https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome owl:Class MONDO:0010702 biolink:NamedThing orofaciodigital syndrome I Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. tmpak2llvmy_mondo_relaxed.owl orofaciodigital syndrome type I|OFDSI|Papillon-league-Psaume syndrome (formerly)|oral facial digital syndrome 1|oral-facial-digital syndrome, type 1|oral-facial-digital syndrome 1|orofaciodigital syndrome I|OFD syndrome 1|orofaciodigital syndrome 1|OFDS 1|Papillon-Leage-Psaume syndrome|OFDI|Papillon-Léage-Psaume syndrome|orofaciodigital syndrome type 1|oral facial digital syndrome type 1|oral-facial-digital syndrome type 1|OFD1|Papillon-Leage and Psaume syndrome Orphanet:2750|UMLS:C1510460|SCTID:763833006|GARD:0004121|MESH:C537134|ICD10:Q87.0|UMLS:C2698658|DOID:0060316|NCIT:C75481|OMIM:311200 owl:Class MONDO:0003857 biolink:NamedThing adult intracranial malignant hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population. tmpak2llvmy_mondo_relaxed.owl adult malignant intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|malignant adult intracranial hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3|adult intracranial anaplastic hemangiopericytoma DOID:6333|UMLS:C1334558|UMLS:C4331858|NCIT:C9183 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0043166 biolink:NamedThing pancreatic lipomatosis duodenal stenosis tmpak2llvmy_mondo_relaxed.owl pancreatic lipomatosis and duodenal atresia GARD:0004208|UMLS:C2931040|MESH:C535839 owl:Class UBERON:0001103 biolink:NamedThing diaphragm A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control tmpak2llvmy_mondo_relaxed.owl phren|diaphragm of thorax|midriff|diaphragm muscle|thoracic diaphragm owl:Class UBERON:0003831 biolink:NamedThing respiratory system muscle Any muscle organ that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl apparatus respiratorius muscle organ|muscle organ of respiratory system|muscle organ of apparatus respiratorius|respiratory system muscle organ owl:Class MONDO:0010117 biolink:NamedThing 3M syndrome 1 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. tmpak2llvmy_mondo_relaxed.owl three M syndrome 1|3-M syndrome caused by mutation in Cul7|three M syndrome type 1|CUL7 3-M syndrome|3-M syndrome caused by mutation in CUL7|Cul7 3-M syndrome|Yakut short stature syndrome|Le Merrer syndrome|gloomy face syndrome|Dolichospondylic dysplasia|3M1|3M syndrome OMIM:273750 owl:Class MONDO:0020332 biolink:NamedThing systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia). tmpak2llvmy_mondo_relaxed.owl systemic mastocytosis with associated hematologic neoplasm|SM-AHN|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|systemic mastocytosis with an associated hematological neoplasm|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|SMAHN|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|SM-AHNMD ICD10:C96.2|EFO:1000559|DOID:4797|Orphanet:98849|NCIT:C9284|ICDO:9741/3|SCTID:397015000|ONCOTREE:SMAHN owl:Class MONDO:0016586 biolink:NamedThing systemic mastocytosis Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement. tmpak2llvmy_mondo_relaxed.owl systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|Mast cell disease|systemic mast cell disease|systemic tissue mast cell disease|systemic mastocytosis|SMCD - systemic mast cell disease|Agressive systemic mastocytosis|SM|systemic tissue Mast cell disease GARD:0008616|Orphanet:2467|UMLS:C0221013|ONCOTREE:SM|MedDRA:10042949|ICD10:C96.2|DOID:349|NCIT:C9235|SCTID:397016004 owl:Class MONDO:0007666 biolink:NamedThing glaucoma-sleep apnea syndrome Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). tmpak2llvmy_mondo_relaxed.owl glaucoma and sleep apnea|glaucoma sleep apnea GARD:0002483|OMIM:137763|MESH:C564232|UMLS:C1842025|Orphanet:2085 https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea owl:Class UBERON:0003527 biolink:NamedThing kidney capillary A capillary that is part of a kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood capillary of kidney|capillary vessel of kidney|kidney blood capillary|capillary of kidney|kidney capillary vessel|renal capillary owl:Class GO:0008238 biolink:NamedThing exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. tmpak2llvmy_mondo_relaxed.owl exoprotease activity owl:Class GO:0008233 biolink:NamedThing peptidase activity Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. tmpak2llvmy_mondo_relaxed.owl peptidase activity, acting on L-amino acid peptides|hydrolase, acting on peptide bonds|proteinase activity|peptide hydrolase activity|protease activity|peptidase activity, acting on D-amino acid peptides owl:Class GO:0042488 biolink:NamedThing positive regulation of odontogenesis of dentin-containing tooth Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpak2llvmy_mondo_relaxed.owl up regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|up-regulation of odontogenesis|stimulation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|upregulation of odontogenesis|activation of odontogenesis owl:Class GO:0099524 biolink:NamedThing postsynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005829 biolink:NamedThing cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012802 biolink:NamedThing oculoauricular syndrome Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). tmpak2llvmy_mondo_relaxed.owl oculoauricular syndrome, Schorderet type|Schorderet-Munier-Franceschetti syndrome|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear|OCACS|oculoauricular syndrome ICD10:Q87.8|MESH:C567416|UMLS:C2677500|Orphanet:157962|OMIM:612109|DOID:0060482 owl:Class MONDO:0017573 biolink:NamedThing 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. tmpak2llvmy_mondo_relaxed.owl female pseudohermaphroditism-anorectal anomalies syndrome ICD10:Q56.2|UMLS:CN203326|Orphanet:2973 owl:Class MONDO:0015246 biolink:NamedThing syndromic anorectal malformation A anorectal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic anorectal malformation|syndrome associated with anorectal malformation Orphanet:117573|UMLS:CN226645 owl:Class MONDO:0041086 biolink:NamedThing mixed anxiety and depressive disorder tmpak2llvmy_mondo_relaxed.owl anxiety depression|mixed anxiety and depressive disorder SCTID:231504006 owl:Class MONDO:0012938 biolink:NamedThing Diamond-Blackfan anemia 7 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. tmpak2llvmy_mondo_relaxed.owl DBA7|Diamond-Blackfan anemia caused by mutation in RPL11|RPL11 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 7|Diamond-Blackfan anemia 7 UMLS:C2675512|OMIM:612562|MESH:C567254 owl:Class MONDO:0012843 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 5 Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to childhood absence epilepsy 5|ECA5|epilepsy, childhood absence, susceptibility to, 5|childhood absence epilepsy caused by mutation in GABRB3|epilepsy, childhood absence, susceptibility to, type 5|GABRB3 childhood absence epilepsy OMIM:612269 owl:Class HGNC:26600 biolink:NamedThing WDR81 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019251 biolink:NamedThing oligosaccharidosis tmpak2llvmy_mondo_relaxed.owl Orphanet:79215|ICD10:E77.1 owl:Class MONDO:0000340 biolink:NamedThing bulbospinal polio A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract. tmpak2llvmy_mondo_relaxed.owl DOID:0050514 Editor note: TODO align with anatomy owl:Class MONDO:0001298 biolink:NamedThing congenital mitral valve insufficiency Dysfunction of the mitral valve characterized by incomplete valve closure. tmpak2llvmy_mondo_relaxed.owl congenital mitral insufficiency|mitral valve incompetence|congenital insufficiency of mitral valve|mitral insufficiency|mitral regurgitation|congenital mitral regurgitation|mitral valve insufficiency|insufficiency, mitral DOID:11502|ICD9:746.6|UMLS:C0158619|SCTID:29928006|ICD9:396.3|ICD10:Q23.3|MESH:D008944|NCIT:C50888 owl:Class MONDO:0018047 biolink:NamedThing familial thrombomodulin anomalies tmpak2llvmy_mondo_relaxed.owl thrombomodulin anomalies, familial ICD10:D68.8|HGNC:11784|Orphanet:3324|GARD:0005195|MESH:C536900|UMLS:C2931365 https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial owl:Class UBERON:0005319 biolink:NamedThing mesonephric collecting duct The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032368 biolink:NamedThing regulation of lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051049 biolink:NamedThing regulation of transport Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045032 biolink:NamedThing congenital secretory diarrhea tmpak2llvmy_mondo_relaxed.owl congenital secretory diarrhea SCTID:25898005|UMLS:C0267661|ICD9:579.8 owl:Class MONDO:0010453 biolink:NamedThing intellectual disability, X-linked 92 tmpak2llvmy_mondo_relaxed.owl MRX92|intellectual disability, X-linked 92|mental retardation, X-linked 92 UMLS:C1845144|MESH:C564483|OMIM:300851 owl:Class PATO:0001655 biolink:NamedThing osmolarity A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014541 biolink:NamedThing thoracic division of spinal cord central canal Part of spinal cord central canal contained in the thoracic spinal cord. It is continuous rostrally with the cervical spinal cord central canal and caudally with the lumbar spinal cord central canal. tmpak2llvmy_mondo_relaxed.owl thoracic spinal cord central canal owl:Class MONDO:0030060 biolink:NamedThing neurodevelopmental disorder with language impairment and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|neurodevelopmental disorder with language impairment and behavioral abnormalities|NEDLIB OMIM:618917 owl:Class MONDO:0019008 biolink:NamedThing benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). tmpak2llvmy_mondo_relaxed.owl Bric|Summerskill-Walshe-Tygstrup syndrome|cholestasis, benign recurrent intrahepatic ICD10:K83.1|SCTID:31155007|UMLS:C0149841|GARD:0012185|DOID:0070230|OMIMPS:243300|Orphanet:65682 https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis owl:Class GO:0005183 biolink:NamedThing gonadotropin hormone-releasing hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. tmpak2llvmy_mondo_relaxed.owl luteinizing hormone/follicle-stimulating hormone releasing factor activity|LHRH activity|LH/FSH-RF|gonadotrophin hormone-releasing hormone activity|luteinizing hormone-releasing factor activity|luteinizing hormone-releasing hormone activity|GnRH activity owl:Class GO:0005179 biolink:NamedThing hormone activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. tmpak2llvmy_mondo_relaxed.owl cAMP generating peptide activity|peptide hormone|glycopeptide hormone|lipopeptide hormone owl:Class UBERON:0000463 biolink:NamedThing organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.|Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. tmpak2llvmy_mondo_relaxed.owl organism substance|portion of body substance|body substance|portion of organism substance|body fluid or substance owl:Class MONDO:0010589 biolink:NamedThing Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. tmpak2llvmy_mondo_relaxed.owl Aarskog syndrome|faciodigitogenital syndrome, recessive|faciogenital dysplasia with attention Deficit-hyperactivity disorder|faciogenital dysplasia|Aarskog-like syndrome|Aarskog disease|Aarskog Scott syndrome|MRXS16, included|facio-digito-genital dysplasia|Scott Aarskog syndrome|faciodigitogenital syndrome|Aarskog syndrome, X-linked|Aarskog-Scott syndrome|mental retardation, X-linked, syndromic 16, included|FGD|FGDY|mental retardation, X-linked, syndromic 16|AAS|Aarskog-Scott syndrome, X-linked MESH:C535331|Orphanet:915|ICD9:759.89|SCTID:14921002|OMIM:305400|GARD:0004775|ICD10:Q87.1|MedDRA:10067148|NCIT:C129720 owl:Class GO:0002768 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. tmpak2llvmy_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway owl:Class GO:0002764 biolink:NamedThing immune response-regulating signaling pathway The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. tmpak2llvmy_mondo_relaxed.owl immune response-regulating signalling pathway owl:Class HsapDv:0000144 biolink:NamedThing 50-year-old human stage Middle aged stage that refers to an adult who is over 50 and under 51. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013788 biolink:NamedThing Usher syndrome type 3B Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. tmpak2llvmy_mondo_relaxed.owl Usher syndrome caused by mutation in HARS|USHER syndrome, type IIIB|Usher syndrome, type 3B|HARS Usher syndrome|Usher syndrome type IIIB|USH3B OMIM:614504|DOID:0110842|ICD10:H35.5|UMLS:C3281066 owl:Class UBERON:0001105 biolink:NamedThing clavicle bone A paired dermal or endochondral bone that is part of the pectoral girdle. The clavicle may be in contact with the interclavicle or coracoid and forms an attachment site for pectoral musculature. [PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl collarbone|collar bone|clavicle|clavicula owl:Class UBERON:0002495 biolink:NamedThing long bone Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. tmpak2llvmy_mondo_relaxed.owl os longum owl:Class MONDO:0003912 biolink:NamedThing malignant ciliary body melanoma A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of ciliary body|melanoma of the ciliary body|ciliary body melanoma|malignant melanoma of the ciliary body|ciliary body malignant melanoma|melanoma (disease) of ciliary body|melanoma of ciliary body|ciliary body melanoma (disease) DOID:6524|SCTID:255015006|UMLS:C0346379|ICD9:190.8|NCIT:C4558 MONDO:0021434 owl:Class GO:1903283 biolink:NamedThing negative regulation of glutathione peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity. tmpak2llvmy_mondo_relaxed.owl negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|inhibition of glutathione peroxidase activity|downregulation of selenium-glutathione peroxidase activity|down regulation of GSH peroxidase activity|inhibition of reduced glutathione peroxidase activity|inhibition of GSH peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of selenium-glutathione peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|downregulation of GSH peroxidase activity|negative regulation of selenium-glutathione peroxidase activity|negative regulation of GSH peroxidase activity|down-regulation of GSH peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|inhibition of selenium-glutathione peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of reduced glutathione peroxidase activity|down-regulation of non-selenium glutathione peroxidase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of non-selenium glutathione peroxidase activity|down-regulation of glutathione peroxidase activity|down regulation of glutathione peroxidase activity|negative regulation of reduced glutathione peroxidase activity|down regulation of reduced glutathione peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|downregulation of glutathione peroxidase activity|down-regulation of reduced glutathione peroxidase activity owl:Class MONDO:0007576 biolink:NamedThing esophageal cancer A primary or metastatic malignant neoplasm involving the esophagus. tmpak2llvmy_mondo_relaxed.owl esophageal cancer|malignant neoplasm of proximal third of esophagus|malignant neoplasm of distal third of esophagus|malignant tumor of abdominal esophagus|malignant neoplasm of the esophagus|malignant esophagus tumor|Aerodigestive tract cancer, susceptibility to|malignant neoplasm of esophagus|malignant tumor of the esophagus|malignant esophageal neoplasm|malignant tumor of esophagus|malignant esophageal tumor|gastric cardia adenocarcinoma, susceptibility to|esophageal squamous cell carcinoma, susceptibility to|malignant esophagus neoplasm|malignant neoplasm of lower third of oesophagus|malignant neoplasm of upper third esophagus|malignant tumor of the middle third of the esophagus|Escc, susceptibility to|malignant neoplasm of middle third of oesophagus|Ca lower third oesophagus|Ca middle third oesophagus|esophagus cancer|malignant tumor of distal third of esophagus|malignant tumor of proximal third of esophagus|cancer of esophagus DOID:5041|ICD9:150.8|ICD9:150.3|ICD10:C15.3|SCTID:363402007|ICD9:150.9|ICD9:150.5|GARD:0006383|ICD9:150.4|OMIM:133239|UMLS:C0546837|ICD9:150.2|ICD10:C15.4|ICD10:C15.5|NCIT:C7478 owl:Class MONDO:0007856 biolink:NamedThing palmoplantar keratoderma-esophageal carcinoma syndrome Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. tmpak2llvmy_mondo_relaxed.owl tylosis with esophageal cancer|Howell-Evans syndrome|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma-esophageal carcinoma syndrome|howel-Evans syndrome|tylosis-oesophageal carcinoma syndrome|Toc|tylosis - oesophageal carcinoma|keratosis palmaris et plantaris with esophageal cancer|palmoplantar keratoderma with esophageal cancer|keratosis palmoplantaris with esophageal cancer|Bennion-Patterson syndrome|keratosis palmaris Et plantaris with esophageal cancer|keratosis palmoplantaris-esophageal carcinoma syndrome OMIM:148500|Orphanet:2198|SCTID:111030006|DOID:0111506|MESH:C536164|GARD:0003102 https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer owl:Class MONDO:0010777 biolink:NamedThing cardiomyopathy, infantile hypertrophic tmpak2llvmy_mondo_relaxed.owl DOID:0111753|OMIM:500006|UMLS:C2748884 owl:Class MONDO:0017536 biolink:NamedThing central polydactyly of fingers, bilateral tmpak2llvmy_mondo_relaxed.owl mirror hand, bilateral|mesoaxial polydactyly of fingers, bilateral ICD10:Q69.0|Orphanet:295173 owl:Class CHEBI:75787 biolink:NamedThing prokaryotic metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. tmpak2llvmy_mondo_relaxed.owl prokaryotic metabolites owl:Class MONDO:0003959 biolink:NamedThing breast large cell neuroendocrine carcinoma A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl large cell neuroendocrine carcinoma of breast|breast large cell neuroendocrine carcinoma DOID:6657|NCIT:C40356|UMLS:C1511316 owl:Class UBERON:0009538 biolink:NamedThing mesenchyme of sublingual gland primordium Mesenchyme that is part of a sublingual gland primordium. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003076 biolink:NamedThing posterior neural tube tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100004 biolink:NamedThing mast cell activation syndrome A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). tmpak2llvmy_mondo_relaxed.owl MACS|disorder of mast cell activation|mast cell activation disease 2018-07-17 21:32:53+00:00 GARD:0012981 owl:Class CHEBI:18405 biolink:NamedThing pyridoxal 5'-phosphate The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal. tmpak2llvmy_mondo_relaxed.owl 3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|PYRIDOXAL-5'-PHOSPHATE|Pyridoxal 5-phosphate|Pyridoxal phosphate|PLP|Pyridoxal 5'-phosphate|pyridoxal 5-monophosphoric acid ester|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|codecarboxylase|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester|pyridoxal 5'-(dihydrogen phosphate) owl:Class UBERON:0019293 biolink:NamedThing white matter of pontine tegmentum tmpak2llvmy_mondo_relaxed.owl pontine white matter tracts|substantia alba tegmenti pontis|white matter of pontile tegmentum|white substance of pontile tegmentum|predominantly white regional part of pontine tegmentum owl:Class MONDO:0015729 biolink:NamedThing mosaic trisomy 16 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 16|Mosaic trisomy type 16|trisomy 16 mosaicism MESH:C538041|Orphanet:1708|ICD10:Q92.1|SCTID:764621006 owl:Class MONDO:0022180 biolink:NamedThing chromosome 16 trisomy tmpak2llvmy_mondo_relaxed.owl trisomy chromosome 16|trisomy 16|mosaic trisomy 16 NCIT:C37866|GARD:0007060 https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy owl:Class MONDO:0019736 biolink:NamedThing dense deposit disease Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. tmpak2llvmy_mondo_relaxed.owl MPGN 2|membranoproliferative glomerulonephritis type II|membranoproliferative glomerulonephritis type 2|Mesangiocapillary glomerulonephritis type 2|glomerulonephritis membranoproliferative type 2 ICD10:N04.6|UMLS:C0268743|GARD:0008555|NCIT:C123039|SCTID:722760002|Orphanet:93571 owl:Class MONDO:0022425 biolink:NamedThing alpha-thalassemia-abnormal morphogenesis tmpak2llvmy_mondo_relaxed.owl Abuelo Forman Rubin syndrome|homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects GARD:0000362 https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis owl:Class UBERON:0004417 biolink:NamedThing proximal epiphysis of phalanx of manual digit 1 A proximal epiphysis that is part of a manual digit 1 phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl base of phalanx of first digit of hand|proximal epiphysis of phalanx of thumb|basal epiphysis of phalanx of thumb|proximal epiphysis of phalanx of manual digit I|base of phalanx of thumb|proximal epiphysis of phalanx of manual digit 1 owl:Class UBERON:0004414 biolink:NamedThing proximal epiphysis of phalanx of manus A proximal epiphysis that is part of a phalanx of manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl basis phalangis manus|base of phalanx of finger|basal epiphysis of phalanx of finger|proximal epiphysis of phalanx of finger|proximal epiphysis of phalanx of hand owl:Class MONDO:0016400 biolink:NamedThing metal transport or utilization disorder with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:225692|UMLS:CN226914 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class GO:0060591 biolink:NamedThing chondroblast differentiation The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. tmpak2llvmy_mondo_relaxed.owl chondrocyte progenitor cell differentiation owl:Class MONDO:0009857 biolink:NamedThing persistent Mullerian duct syndrome Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. tmpak2llvmy_mondo_relaxed.owl persistent Mullerian derivatives|persistent mullerian duct syndrome, types 1 and 2|pseudohermaphroditism, Male internal|persistent oviduct syndrome|persistent Müllerian duct syndrome|female genital ducts in otherwise normal Male|persistent MULLERIAN duct syndrome, types I and II|persistent Müllerian derivatives|persistent Mullerian duct syndrome|hernia uteri inguinale|persistent Muellerian duct syndrome|female genital ducts in otherwise normal male|PMDS UMLS:C1849930|MESH:C536665|SCTID:702358005|ICD9:752.89|OMIM:261550|Orphanet:2856|GARD:0008435|ICD10:Q55.8|NCIT:C120188|DOID:0050791 https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome owl:Class MONDO:0005518 biolink:NamedThing pseudohermaphroditism A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. tmpak2llvmy_mondo_relaxed.owl indeterminate sex and pseudohermaphroditism Wikipedia:Pseudohermaphroditism|EFO:0005579|DOID:3765|ICD9:752.7|ICD10:Q56|SCTID:75164001|NCIT:C124575|ICD10:Q56.3 owl:Class MONDO:0019321 biolink:NamedThing atypical Werner syndrome A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. tmpak2llvmy_mondo_relaxed.owl atypical progeroid syndrome UMLS:CN205977|UMLS:C4275075|SCTID:715633008|ICD10:E34.8|GARD:0011910|Orphanet:79474 https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome owl:Class MONDO:0010539 biolink:NamedThing X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis, X-linked|branchial arch syndrome X-linked|branchial arch syndrome, X-linked|X-linked mandibulofacial dysostosis with limb anomalies|X-linked branchial arch syndrome|mandibulofacial dysostosis Toriello type|MFD Toriello type|mandibulofacial dysostosis, Toriello type MESH:C537102|UMLS:C1844918|ICD10:Q75.4|SCTID:719813003|GARD:0001002|OMIM:301950|Orphanet:1131 owl:Class UBERON:0004114 biolink:NamedThing tympanic cavity small cavity surrounding the bones of the middle ear. tmpak2llvmy_mondo_relaxed.owl middle-ear cavity|cavitas tympanica|tympanum|cavitas tympani|middle ear cavity|anatomical cavity of middle ear|cavity of middle ear owl:Class UBERON:0010064 biolink:NamedThing open anatomical space An anatomical space with at least one opening to another space or the exterior. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001555 biolink:NamedThing digestive tract A tube extending from the mouth to the anus. tmpak2llvmy_mondo_relaxed.owl alimentary tract|enteric tract|gut|digestive tube|alimentary canal|gut tube|digestive canal owl:Class HGNC:7323 biolink:NamedThing SEPTIN9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011327 biolink:NamedThing neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. tmpak2llvmy_mondo_relaxed.owl Niid|neuronal intranuclear inclusion disease|neuronal intranuclear hyaline inclusion disease GARD:0003971|ICD10:G31.0|MESH:C537395|NCIT:C122655|SCTID:715437003|OMIM:603472|Orphanet:2289|UMLS:C1863843 https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease owl:Class MONDO:0004353 biolink:NamedThing extrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl extrahepatic biliary papillomatosis|extrahepatic bile duct papillary neoplasm|extrahepatic bile duct papillomatosis UMLS:C1333511|DOID:7752|NCIT:C7124 owl:Class MONDO:0003455 biolink:NamedThing bile duct papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl bile duct papillary epithelial neoplasm|biliary papillomatosis|intraductal papillary neoplasm|bile duct papillary neoplasm|bile duct papillomatosis|IPN DOID:5468|UMLS:C1879344|ICDO:8503/0|NCIT:C6881 owl:Class MONDO:0032805 biolink:NamedThing hypopigmentation, organomegaly, and delayed myelination and development tmpak2llvmy_mondo_relaxed.owl HOD|HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT OMIM:618541 owl:Class MONDO:0001470 biolink:NamedThing anal margin squamous cell carcinoma A squamous cell carcinoma arising from the perianal skin. tmpak2llvmy_mondo_relaxed.owl perianal skin squamous cell carcinoma|squamous cell carcinoma of anal margin|anal margin squamous cell carcinoma|squamous cell carcinoma of the anal margin NCIT:C6925|SCTID:255084004|ICD10:C44.520|ICD9:173.5|DOID:12239|UMLS:C1412037 owl:Class MONDO:0018956 biolink:NamedThing idiopathic bronchiectasis Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). tmpak2llvmy_mondo_relaxed.owl Orphanet:60033|ICD10:J47|SCTID:233629001|UMLS:C0339985 owl:Class NCBITaxon:6933 biolink:NamedThing Acari tmpak2llvmy_mondo_relaxed.owl mites and ticks|mites & ticks|Acarina GC_ID:1 ncbi_taxonomy owl:Class GO:0002892 biolink:NamedThing regulation of type II hypersensitivity Any process that modulates the frequency, rate, or extent of type II hypersensitivity. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002883 biolink:NamedThing regulation of hypersensitivity Any process that modulates the frequency, rate, or extent of hypersensitivity. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006692 biolink:NamedThing vertebral canal A conduit enclosed within the vertebral foramen of the vertebrae through which the spinal cord passes. tmpak2llvmy_mondo_relaxed.owl c. vertebralis|spinal canal|neural canal|vertebral canal|foramen vertebrale|spinal cavity owl:Class UBERON:0004111 biolink:NamedThing anatomical conduit Any tube, opening or passage that connects two distinct anatomical spaces. tmpak2llvmy_mondo_relaxed.owl opening|foramen|foramina|ostium|ostia owl:Class MONDO:0054699 biolink:NamedThing proteasome-associated autoinflammatory syndrome 3 tmpak2llvmy_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 3, digenic|PRAAS3|proteasome-associated autoinflammatory syndrome 3 OMIM:617591 owl:Class UBERON:0004260 biolink:NamedThing upper arm blood vessel A blood vessel that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forelimb stylopod blood vessel owl:Class UBERON:0003507 biolink:NamedThing arm blood vessel A blood vessel that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of arm owl:Class MONDO:0013590 biolink:NamedThing Stickler syndrome, type 4 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive Stickler syndrome caused by mutation in COL9A1|STICKLER syndrome, type IV|STL4|COL9A1 autosomal recessive Stickler syndrome OMIM:614134 owl:Class MONDO:0020091 biolink:NamedThing male infertility due to obstructive azoospermia tmpak2llvmy_mondo_relaxed.owl Male infertility due to impaired sperm transport 2022-03-01 Orphanet:98343|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0021516 biolink:NamedThing benign neoplasm of glottis A benign neoplasm that involves the glottis. tmpak2llvmy_mondo_relaxed.owl benign glottis neoplasm|glottis benign neoplasm|benign tumor of glottis|benign neoplasm of the glottis|benign glottis tumor|benign tumor of the glottis UMLS:C0347234|SCTID:92123007|NCIT:C4605 owl:Class MONDO:0002353 biolink:NamedThing glottis neoplasm A benign or malignant neoplasm that affects the glottic area of the larynx. tmpak2llvmy_mondo_relaxed.owl neoplasm of the glottis|glottis neoplasm (disease)|tumor of the glottis|glottis tumor|glottis neoplasm|neoplasm of glottis|tumor of glottis NCIT:C4425|DOID:2597|SCTID:126693009|UMLS:C0345713 owl:Class ECTO:3000005 biolink:NamedThing exposure to humans A history of exposure to Homo sapiens. tmpak2llvmy_mondo_relaxed.owl Homo sapiens exposure owl:Class HGNC:1424 biolink:NamedThing CAD tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000213 biolink:NamedThing lining cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. tmpak2llvmy_mondo_relaxed.owl boundary cell cell owl:Class GO:0030424 biolink:NamedThing axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043005 biolink:NamedThing neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. tmpak2llvmy_mondo_relaxed.owl nerve fiber|neuronal cell projection|neurite|neuron protrusion|neuron process owl:Class MONDO:0002508 biolink:NamedThing gingivitis A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. tmpak2llvmy_mondo_relaxed.owl acute gingivitis|gingiva inflammation|gingivitis|chronic gingivitis|inflammation of gingiva ICD10:K05.1|ICD9:523.1|DOID:3087|SCTID:66383009|ICD9:523.0|ICD10:K05.0|MESH:D005891|UMLS:C0017574|ICD10:K05.10|ICD10:K05.00|ICD9:523.10|NCIT:C34636 owl:Class MONDO:0017056 biolink:NamedThing DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion tmpak2llvmy_mondo_relaxed.owl monosomy 21q22.13-q22.2|21q22.13q22.2 microdeletion syndrome|21q22.13-q22.2 microdeletion syndrome|monosomy 21q22.13q22.2|Del(21)(q22.13q22.2) Orphanet:268261|ICD10:Q93.5|UMLS:CN202414 owl:Class MONDO:0016919 biolink:NamedThing partial deletion of the long arm of chromosome 21 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 21|partial deletion of chromosome 21q|partial deletion of the long arm of chromosome type 21|partial monosomy of chromosome 21q ICD10:Q93.5|Orphanet:262173 owl:Class MONDO:0008605 biolink:NamedThing triphalangeal thumb, Nonopposable tmpak2llvmy_mondo_relaxed.owl triphalangeal thumb non opposable|triphalangeal thumb, Nonopposable|TPT|non-opposable triphalangeal thumb GARD:0005288|MESH:C536562|OMIM:190600|UMLS:C2931238 owl:Class MONDO:0000605 biolink:NamedThing hypersensitivity reaction disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpak2llvmy_mondo_relaxed.owl hypersensitive|sensitive|hypersensitivity reaction|hypersensitivity|sensitivity|allergic reaction EFO:1002003|DOID:0060056|SCTID:473010000|NCIT:C3114 owl:Class GO:1900120 biolink:NamedThing regulation of receptor binding Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpak2llvmy_mondo_relaxed.owl regulation of receptor ligand owl:Class UBERON:0018256 biolink:NamedThing lacrimal vein A vein that drains a lacrimal gland. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003032 biolink:NamedThing detection of oxygen The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012401 biolink:NamedThing congenital stromal corneal dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, congenital stromal|congenital hereditary stromal dystrophy|CSCD|congenital stromal corneal dystrophy|Witschel dystrophy OMIM:610048|Orphanet:101068|ICD9:371.56|SCTID:702359002|ICD10:H18.5|DOID:0060445|MESH:C566452|UMLS:C1864738 owl:Class UBERON:0003913 biolink:NamedThing tooth-like structure hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpak2llvmy_mondo_relaxed.owl tooth-like organ owl:Class UBERON:0004765 biolink:NamedThing skeletal element Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004407 biolink:NamedThing distal epiphysis of radius A distal epiphysis that is part of a radius [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal end of radius|lower end of radius owl:Class MONDO:0005175 biolink:NamedThing aggressive insulitis Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. tmpak2llvmy_mondo_relaxed.owl EFO:0002498 owl:Class MONDO:0000704 biolink:NamedThing lymphocytic colitis Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpak2llvmy_mondo_relaxed.owl DOID:0060184|ICD10:K52.832|MESH:D046730|ICD9:558.9|MedDRA:10025268|GARD:0006939|Orphanet:65279|UMLS:C0400822|SCTID:31437008|EFO:1001294|NCIT:C27147|ICD10:K52.89 owl:Class MONDO:0000702 biolink:NamedThing microscopic colitis Inflammation of the colon that is only apparent by microscopic examination. tmpak2llvmy_mondo_relaxed.owl ICD9:558.9|UMLS:C0400821|EFO:1001295|SCTID:235753003|MESH:D046728|Orphanet:58220|DOID:0060182|NCIT:C38504 owl:Class MONDO:0007251 biolink:NamedThing campomelic dysplasia Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). tmpak2llvmy_mondo_relaxed.owl campomelic dwarfism|campomelic dysplasia|acampomelic campomelic dysplasia with autosomal Sex reversal|CMPD1|Cmd1|Cmpd1/Sra1|acampomelic campomelic dysplasia|CMD|camptomelic dysplasia|campomelic dysplasia with autosomal Sex reversal|Cmpd SCTID:74928006|NCIT:C84609|GARD:0010027|MESH:D055036|UMLS:C1861923|ICD10:Q87.1|DOID:0050463|Orphanet:140|UMLS:C1861922|OMIM:114290|ICD9:733.29 Editor note: consider adding grouping class for related disorders owl:Class UBERON:0002561 biolink:NamedThing lumen of central nervous system The cavity that is enclosed by the central nervous system. In vertebrates this is the cavity that includes as parts ventricular cavities and the central canal of the spinal cord that develops from the lumen of the neura tube tmpak2llvmy_mondo_relaxed.owl cavity of ventricular system of neuraxis|neuraxis lumen|cavity of neuraxis|neuraxis cavity owl:Class GO:0045089 biolink:NamedThing positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpak2llvmy_mondo_relaxed.owl up regulation of innate immune response|stimulation of innate immune response|upregulation of innate immune response|up-regulation of innate immune response owl:Class MONDO:0045013 biolink:NamedThing disease of extraembryonic membrane A disease or disorder that involves the extraembryonic membrane. tmpak2llvmy_mondo_relaxed.owl extraembryonic membrane disease or disorder|disease or disorder of extraembryonic membrane|disorder of extraembryonic membrane|disease of extraembryonic membrane|extraembryonic membrane disease SCTID:609522002|UMLS:C3662139 owl:Class MONDO:0006002 biolink:NamedThing urogenital tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. tmpak2llvmy_mondo_relaxed.owl genitourinary tuberculosis|genitourinary system tuberculosis ICD9:016.90|ICD10:A18.1|ICD9:016.92|SCTID:4445009|ICD10:A18.10|ICD9:016|EFO:0007531|ICD9:016.9|MESH:D014401|UMLS:C0041333|DOID:2149 Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass owl:Class MONDO:0010907 biolink:NamedThing familial hypertryptophanemia Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. tmpak2llvmy_mondo_relaxed.owl hypertryptophanemia, familial|hypertryptophanemia|familial hypertryptophanemia|HYPTRP OMIM:600627|GARD:0002871|SCTID:721838005|MESH:C538393|UMLS:C2931837|ICD10:E70.8|DOID:0111703|UMLS:C1833562|Orphanet:2224 https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia owl:Class MONDO:0020648 biolink:NamedThing rubella encephalitis tmpak2llvmy_mondo_relaxed.owl SCTID:192689006 owl:Class HGNC:5724 biolink:NamedThing RBPJ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018280 biolink:NamedThing muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. tmpak2llvmy_mondo_relaxed.owl MEB disease with bilateral multicystic leucodystrophy Orphanet:370997|ICD10:G71.2 owl:Class MONDO:0018283 biolink:NamedThing primary qualitative or quantitative defects of alpha-dystroglycan tmpak2llvmy_mondo_relaxed.owl primary alpha-dystroglycanopathy|primary dystroglycanopathy ICD10:G71.2|Orphanet:371040 owl:Class HGNC:30788 biolink:NamedThing TLE6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010286 biolink:NamedThing syndromic X-linked intellectual disability Siderius type tmpak2llvmy_mondo_relaxed.owl Siderius X-linked mental retardation syndrome|X-linked mental retardation Hamel type|syndromic X-linked intellectual disability Siderius type|Siderius Hamel syndrome|mental retardation, X-linked, syndromic, Siderius type|mental retardation syndrome, X-linked, Siderius type|intellectual disability, X-linked, syndromic, Siderius type|intellectual deficit X-linked Siderius type|X-linked intellectual disability, Siderius type|Siderius X-linked intellectual disability syndrome|mental retardation X-linked Siderius type|intellectual disability X-linked Siderius type|intellectual disability syndrome, X-linked, Siderius type|Siderius-Hamel syndrome|MRXSSD|X-linked intellectual disability Hamel type ICD10:Q87.8|OMIM:300263|GARD:0009704|MESH:C537333|UMLS:C1846055|DOID:0060812|Orphanet:85287 owl:Class MONDO:0010466 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 2 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. tmpak2llvmy_mondo_relaxed.owl multiple congenital anomalies-hypotonia-seizures syndrome type 2|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|multiple congenital anomalies-hypotonia-seizures syndrome 2|MCAHS2|DEE20|glycosylphosphatidylinositol biosynthesis defect 4|GPIBD4|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability|developmental and epileptic encephalopathy 20|MCAHS type 2|epileptic encephalopathy, early infantile, 20 GARD:0012777|Orphanet:300496|ICD10:Q87.8|DOID:0080139|OMIM:300868|UMLS:C3275508 owl:Class HGNC:23141 biolink:NamedThing TRMT5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002828 biolink:NamedThing regulation of type 2 immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. tmpak2llvmy_mondo_relaxed.owl regulation of T-helper 2 type immune response|regulation of Th2 immune response owl:Class MONDO:0006287 biolink:NamedThing malignancy in giant cell tumor of bone A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). tmpak2llvmy_mondo_relaxed.owl giant cell tumor of bone, malignant|malignant giant cell tumor of bone|giant cell tumor of bone, malignant (morphologic abnormality)|bone giant cell sarcoma|giant cell sarcoma of the bone|giant cell sarcoma of bone|giant cell bone sarcoma|OSTEOCLASTOMA, malignant|Dedifferentiated giant cell tumor|malignancy in giant cell tumor of the bone|malignancy in giant cell tumor of bone UMLS:C0334552|NCIT:C4304|ICDO:9250/3|EFO:1000347|DOID:4719 owl:Class MONDO:0002402 biolink:NamedThing malignant giant cell tumor A malignant neoplasm characterized by then presence of atypical giant cells. tmpak2llvmy_mondo_relaxed.owl malignant tumor, giant cell type|giant cell tumor, malignant|malignant giant cell tumor|malignant tumor, giant cell type (morphologic abnormality)|malignant giant cell neoplasm UMLS:C0334229|DOID:2705|NCIT:C4090|ICDO:8003/3 owl:Class GO:0120111 biolink:NamedThing neuron projection cytoplasm All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023577 biolink:NamedThing Krieble Bixler syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant blepharophimosis with multiple congenital anomalies MESH:C537619|GARD:0003144|UMLS:C2931550 https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome owl:Class UBERON:0011859 biolink:NamedThing internal acoustic meatus The internal auditory meatus (also internal acoustic meatus, internal auditory canal, and internal acoustic canal) is a canal in the petrous bone of the temporal bone of the skull that carries nerves from inside the cranium towards the middle and inner ear compartments namely cranial nerve VII and cranial nerve VIII. tmpak2llvmy_mondo_relaxed.owl internal acoustic canal|porus acusticus internus|internal auditory canal|internal acoustic meatus|internal auditory meatus owl:Class CL:0000336 biolink:NamedThing adrenal medulla chromaffin cell A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. tmpak2llvmy_mondo_relaxed.owl medullary chromaffin cell of adrenal gland FMA:69262 CL:1000422 cell owl:Class CL:0000457 biolink:NamedThing biogenic amine secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0009129 biolink:NamedThing right atrium endocardium Endocardium that is part of the right atrium. tmpak2llvmy_mondo_relaxed.owl right atrium endocardial tissue|endocardium of right atrium|right atrial endocardium owl:Class MONDO:0010560 biolink:NamedThing cleft palate with or without ankyloglossia, X-linked X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. tmpak2llvmy_mondo_relaxed.owl cleft palate X-linked|X-linked cleft palate and ankyloglossia|CPX|cleft palate, X-linked|cleft palate with or without ankyloglossia, X-linked|X-linked cleft palate DOID:0060613|ICD10:Q35.9|Orphanet:324601|SCTID:766761000|OMIM:303400|GARD:0001394|MESH:C536426 https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked owl:Class UBERON:0004209 biolink:NamedThing renal vesicle The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. tmpak2llvmy_mondo_relaxed.owl stage I nephron owl:Class MONDO:0000381 biolink:NamedThing infiltrating renal pelvis transitional cell carcinoma A infiltrating urothelial carcinoma that involves the renal pelvis. tmpak2llvmy_mondo_relaxed.owl DOID:0050620 owl:Class MONDO:0005221 biolink:NamedThing renal pelvis urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. tmpak2llvmy_mondo_relaxed.owl renal pelvis urothelial carcinoma|renal pelvis transitional cell carcinoma|transitional cell carcinoma of renal pelvis|transitional cell carcinoma of the renal pelvis|urothelial cell carcinoma of the renal pelvis|urothelial cell carcinoma of renal pelvis|kidney renal pelvis urothelial cancer|renal pelvis urothelial cancer NCIT:C7355|ICD9:189.0|UMLS:C0238410|SCTID:408642003|DOID:5974|EFO:0003017 owl:Class GO:0050748 biolink:NamedThing negative regulation of lipoprotein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl down regulation of lipoprotein metabolic process|down-regulation of lipoprotein metabolic process|negative regulation of lipoprotein metabolism|downregulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process owl:Class UBERON:0013232 biolink:NamedThing serous acinus The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. tmpak2llvmy_mondo_relaxed.owl acinus of serous gland owl:Class MONDO:0011968 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy limb-girdle with alpha-sarcoglycan|limb-girdle muscular dystrophy type 2D|Duchenne-like autosomal recessive muscular dystrophy, type 2|Alpha-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2D|primary adhalinopathy|Adhalinopathy, primary|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|LGMD2D|SGCA autosomal recessive limb-girdle muscular dystrophy|DMDA2|limb-girdle muscular dystrophy, type 2D|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|Duchenne-like autosomal recessive muscular dystrophy type 2 NCIT:C142081|Orphanet:62|GARD:0000438|ICD10:G71.0|OMIM:608099|DOID:0110278|SCTID:715340002 owl:Class MONDO:0010435 biolink:NamedThing nystagmus 6, congenital, X-linked tmpak2llvmy_mondo_relaxed.owl nystagmus 6, congenital, X-linked|NYS6|NYSTAGMUS 6, congenital, X-linked UMLS:C3151752|OMIM:300814 owl:Class MONDO:0005712 biolink:NamedThing congenital nystagmus Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) tmpak2llvmy_mondo_relaxed.owl nystagmus|nystagmus, congenital|congenital pathologic nystagmus ICD9:379.51|EFO:0007217|DOID:9649|HP:0000639|MESH:D020417|OMIMPS:310700|SCTID:64635004|ICD10:H55.01 owl:Class HGNC:2180 biolink:NamedThing COCH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004935 biolink:NamedThing acquired carotenemia tmpak2llvmy_mondo_relaxed.owl hypercarotinemia|carotenemia ICD9:278.3|SCTID:35487009|DOID:9969 Editor note: consider merging into parent. An explicit acquired subclass was created for consistency with DO owl:Class MONDO:0006504 biolink:NamedThing acquired metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired metabolic disease EFO:1000639|DOID:0060158 owl:Class GO:1905505 biolink:NamedThing positive regulation of motile cilium assembly Any process that activates or increases the frequency, rate or extent of motile cilium assembly. tmpak2llvmy_mondo_relaxed.owl up regulation of motile primary cilium assembly|positive regulation of nodal cilium formation|positive regulation of nodal cilium assembly|activation of motile primary cilia formation|up regulation of motile primary cilia formation|activation of motile primary cilia assembly|activation of nodal cilium assembly|up regulation of nodal cilium formation|activation of motile primary cilium formation|positive regulation of motile primary cilia assembly|positive regulation of motile primary cilium formation|up regulation of motile primary cilia assembly|up-regulation of motile primary cilia assembly|positive regulation of motile primary cilium assembly|upregulation of nodal cilium formation|positive regulation of motile primary cilia formation|up-regulation of motile primary cilium assembly|upregulation of motile primary cilia assembly|upregulation of motile primary cilium formation|up regulation of motile primary cilium formation|up-regulation of motile primary cilia formation|activation of nodal cilium formation|upregulation of motile primary cilium assembly|up-regulation of nodal cilium formation|upregulation of motile primary cilia formation|upregulation of nodal cilium assembly|up-regulation of nodal cilium assembly|up regulation of nodal cilium assembly|up-regulation of motile primary cilium formation|activation of motile primary cilium assembly owl:Class GO:1905503 biolink:NamedThing regulation of motile cilium assembly Any process that modulates the frequency, rate or extent of motile cilium assembly. tmpak2llvmy_mondo_relaxed.owl regulation of motile primary cilia assembly|regulation of nodal cilium formation|regulation of motile primary cilium formation|regulation of nodal cilium assembly|regulation of motile primary cilia formation|regulation of motile primary cilium assembly owl:Class MONDO:0008748 biolink:NamedThing Hermansky-Pudlak syndrome 1 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. tmpak2llvmy_mondo_relaxed.owl HPS1|Delta storage pool disease|Hermansky-Pudlak syndrome type 1|HPS1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome caused by mutation in HPS1|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells UMLS:C2931875|OMIM:203300|MESH:C538539|NCIT:C150367|DOID:0060539 owl:Class HGNC:18318 biolink:NamedThing ASXL1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000526 biolink:NamedThing Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. tmpak2llvmy_mondo_relaxed.owl Absent iris SNOMEDCT_US:69278003|MSH:D015783|UMLS:C0003076 HP:0011498 human_phenotype owl:Class HP:0008053 biolink:NamedThing Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. tmpak2llvmy_mondo_relaxed.owl Absent/small iris|Absent/underdeveloped iris UMLS:C4024748 peter 2008-04-02T01:50:00Z human_phenotype owl:Class UBERON:0004232 biolink:NamedThing lymphatic vessel smooth muscle A portion of smooth muscle tissue that is part of a lymphatic vessel [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel involuntary muscle|non-striated muscle of lymphatic vessel|lymph vessel smooth muscle tissue|smooth muscle of lymphatic vessel|lymphatic vessel smooth muscle tissue|lymph vessel involuntary muscle|involuntary muscle of lymph vessel|lymph vessel smooth muscle|smooth muscle tissue of lymphatic vessel|smooth muscle of lymph vessel|lymph vessel non-striated muscle|non-striated muscle of lymph vessel|involuntary muscle of lymphatic vessel|lymphatic vessel non-striated muscle|smooth muscle tissue of lymph vessel owl:Class HGNC:1377 biolink:NamedThing CA5A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006864 biolink:NamedThing distal metaphysis of femur A distal metaphysis that is part of a femur. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004377 biolink:NamedThing distal metaphysis A metaphysis that is in the distal side of a diaphysis. tmpak2llvmy_mondo_relaxed.owl distal diaphyseal end of long bone owl:Class HGNC:11212 biolink:NamedThing SPAG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003278 biolink:NamedThing inner ear cancer A malignant neoplasm involving the internal ear. tmpak2llvmy_mondo_relaxed.owl malignant internal ear neoplasm|malignant neoplasm of internal ear|cancer of internal ear|internal ear cancer DOID:5102 owl:Class MONDO:0004532 biolink:NamedThing auditory system cancer A malignant neoplasm involving the auditory system tmpak2llvmy_mondo_relaxed.owl malignant auditory system neoplasm|auditory system cancer|malignant neoplasm of auditory system|cancer of auditory system DOID:833 owl:Class MONDO:0004384 biolink:NamedThing maxillary sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpak2llvmy_mondo_relaxed.owl inverted papilloma of maxillary sinus|inverted papilloma of the maxillary sinus|maxillary sinus inverted papilloma DOID:7868|UMLS:C1334645|NCIT:C6840 owl:Class MONDO:0002537 biolink:NamedThing inverted papilloma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. tmpak2llvmy_mondo_relaxed.owl inverted papilloma, squamous cell|inverted papilloma UMLS:C0206721|NCIT:C3793|ICD9:212.0|DOID:3179|SCTID:104081000119103|MESH:D018308 owl:Class GO:1904319 biolink:NamedThing negative regulation of smooth muscle contraction involved in micturition Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpak2llvmy_mondo_relaxed.owl down-regulation of smooth muscle contraction involved in urination|down regulation of urinary bladder smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in micturition|negative regulation of smooth muscle contraction involved in urination|down regulation of smooth muscle contraction involved in urination|down-regulation of urinary bladder smooth muscle contraction involved in micturition|inhibition of urinary bladder smooth muscle contraction involved in micturition|negative regulation of urinary bladder smooth muscle contraction involved in micturition|downregulation of smooth muscle contraction involved in urination|downregulation of smooth muscle contraction involved in micturition|downregulation of urinary bladder smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination owl:Class MONDO:0011929 biolink:NamedThing chromosome 1p36 deletion syndrome A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. tmpak2llvmy_mondo_relaxed.owl 1p Telomere Deletion syndrome|monosomy 1P36 syndrome|subtelomeric 1p36 deletion|deletion 1p36|Del(1)(p36)|deletion 1pter|1p36 deletion syndrome|monosomy 1pter|monosomy 1p36|chromosome 1p36 deletion syndrome ICD9:758.39|MESH:C535362|GARD:0006082|UMLS:C1842870|SCTID:699306003|DOID:0060410|Orphanet:1606|OMIM:607872|NCIT:C74983|ICD10:Q93.5 https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome owl:Class MONDO:0016674 biolink:NamedThing 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. tmpak2llvmy_mondo_relaxed.owl 46,XY partial testicular dysgenesis|46,XY PGD UMLS:C4510744|Orphanet:251510|ICD10:Q56.1|SCTID:725045004 Editor note: todo - make disjoint with complete form (some classes inherit from both) owl:Class MONDO:0018402 biolink:NamedThing female infertility due to gonadal dysgenesis tmpak2llvmy_mondo_relaxed.owl rare female infertility due to gonadal dysgenesis|rare female infertility due to ovarian dysgenesis|female infertility due to ovarian dysgenesis 2022-03-01 ICD10:N97.0|Orphanet:399877 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0100282 biolink:NamedThing SC phocomelia syndrome tmpak2llvmy_mondo_relaxed.owl hypomelia hypotrichosis facial hemangioma syndrome DOID:0050536|OMIM:269000 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class UBERON:0008882 biolink:NamedThing spinal cord commissure The nerve fiber tracts that span the midline of the spinal cord tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002301 biolink:NamedThing frontal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of frontal sinus|squamous cell carcinoma of the frontal sinus|frontal sinus epidermoid carcinoma|squamous cell carcinoma of frontal sinus|frontal sinus squamous cell carcinoma|epidermoid carcinoma of the frontal sinus SCTID:707356001|UMLS:C1333646|DOID:2441|NCIT:C6067 owl:Class MONDO:0001756 biolink:NamedThing frontal sinus cancer A malignant neoplasm involving the frontal sinus. tmpak2llvmy_mondo_relaxed.owl malignant frontal sinus tumor|malignant tumor of the frontal sinus|malignant tumor of frontal sinus|cancer of frontal sinus|malignant neoplasm of the frontal sinus|malignant neoplasm of frontal sinus|frontal sinus cancer|malignant frontal sinus neoplasm SCTID:363427000|NCIT:C3542|DOID:1360|ICD9:160.4|ICD10:C31.2|UMLS:C0153478 owl:Class UBERON:0003410 biolink:NamedThing oropharyngeal gland A gland that is part of a oropharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gland of oropharynx|oral part of pharynx gland|gland of oral part of pharynx|oropharynx gland owl:Class UBERON:0003295 biolink:NamedThing pharyngeal gland Racemose mucous glands beneath the mucous membrane of the pharynx. tmpak2llvmy_mondo_relaxed.owl glandulae pharyngeae|pharynx gland owl:Class MONDO:0013925 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblJ tmpak2llvmy_mondo_relaxed.owl methylmalonic acidemia with homocystinuria type cblJ|methylmalonic aciduria with homocystinuria, type cblJ|MAHCJ|cblJ defects|methylmalonic aciduria and homocystinuria, cblJ type|cobalamin J defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ GARD:0012621|UMLS:C3553915|ICD10:E71.1|Orphanet:369955|OMIM:614857 https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj owl:Class MONDO:0007501 biolink:NamedThing preauricular fistulae, congenital tmpak2llvmy_mondo_relaxed.owl Pafc|Ear pits|preauricular fistulae, congenital MESH:C563015|OMIM:128700 owl:Class HGNC:25716 biolink:NamedThing COA7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043388 biolink:NamedThing positive regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpak2llvmy_mondo_relaxed.owl up-regulation of DNA binding|up regulation of DNA binding|stimulation of DNA binding|upregulation of DNA binding|activation of DNA binding owl:Class GO:0051099 biolink:NamedThing positive regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpak2llvmy_mondo_relaxed.owl activation of binding|upregulation of binding|up-regulation of binding|stimulation of binding|up regulation of binding owl:Class NCBITaxon:6187 biolink:NamedThing Schistosoma intercalatum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6181 biolink:NamedThing Schistosoma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014225 biolink:NamedThing hemochromatosis type 5 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. tmpak2llvmy_mondo_relaxed.owl FTH1 hereditary hemochromatosis|hereditary hemochromatosis caused by mutation in FTH1|HFE5|hemochromatosis, type 5|FTH1-associated iron overload|iron overload, autosomal dominant|FTH1-related iron overload Orphanet:247790|Orphanet:447792|UMLS:CN181217|OMIM:615517|UMLS:C1851316|UMLS:CN237708|MESH:C565020|ICD10:E83.1|DOID:0111031 Editor notes: ORDO treats this as two diseases owl:Class MONDO:0045014 biolink:NamedThing tetrahydrobiopterin metabolic process disease A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. tmpak2llvmy_mondo_relaxed.owl tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolism|disorder of tetrahydrobiopterin metabolic process UMLS:C0342676|SCTID:237913008 owl:Class NCBITaxon:186826 biolink:NamedThing Lactobacillales tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:91061 biolink:NamedThing Bacilli tmpak2llvmy_mondo_relaxed.owl Firmibacteria|Bacillus/Lactobacillus/Streptococcus group GC_ID:11 ncbi_taxonomy owl:Class HP:0001697 biolink:NamedThing Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl Abnormality of the pericardium UMLS:C4025754|Fyler:1900 human_phenotype owl:Class UBERON:0011745 biolink:NamedThing pulmonary valve leaflets A cardiac valve leaflet that is part of a pulmonary valve. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011741 biolink:NamedThing cardiac valve leaflet tmpak2llvmy_mondo_relaxed.owl valve leaflet owl:Class MONDO:0018138 biolink:NamedThing ocular albinism with congenital sensorineural deafness tmpak2llvmy_mondo_relaxed.owl digenic Waardenburg syndrome/ocular albinism|Waardenburg syndrome type 2 with ocular albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|albinism, ocular, with sensorineural deafness|WS2-OA|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|digenic Waardenburg syndrome/albinism|ocular albinism with sensorineural deafness ICD10:E70.3|UMLS:C1863198|OMIM:103470|DOID:0090100|Orphanet:352740 owl:Class MONDO:0017304 biolink:NamedThing ocular albinism Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. tmpak2llvmy_mondo_relaxed.owl ocular albinism (disease)|XLOA|ocular albinism ocular albinism (disease) ICD10:E70.3|ICD9:270.2|MedDRA:10065276|DOID:0050633|MESH:D016117|SCTID:26399002|Orphanet:284804|HP:0001107 owl:Class MONDO:0003360 biolink:NamedThing small intestine leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl small intestine leiomyosarcoma|small bowel leiomyosarcoma|leiomyosarcoma of small intestine|leiomyosarcoma of the small intestine|leiomyosarcoma of the small bowel|smooth muscle connective tissue tumor|leiomyosarcoma of small bowel|small intestinal leiomyosarcoma NCIT:C7085|DOID:5271|ICD10:C17.2|ICD10:C17.0|ICD10:C17.1|ICD10:C17.8|ICD10:C17.3|SCTID:716651004|UMLS:C0920305|Orphanet:104076 owl:Class GO:0045724 biolink:NamedThing positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium. tmpak2llvmy_mondo_relaxed.owl up-regulation of cilium assembly|upregulation of cilium assembly|up regulation of cilium assembly|positive regulation of flagellum biogenesis|stimulation of cilium assembly|activation of cilium assembly|positive regulation of flagellum assembly owl:Class MONDO:0030988 biolink:NamedThing developmental delay with dysmorphic facies and dental anomalies tmpak2llvmy_mondo_relaxed.owl DEFDA OMIM:619228 owl:Class GO:0033004 biolink:NamedThing negative regulation of mast cell activation Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001510 biolink:NamedThing Growth delay A deficiency or slowing down of growth pre- and postnatally. tmpak2llvmy_mondo_relaxed.owl Retarded growth|Very poor growth|Growth failure|Growth retardation|Growth deficiency|Poor growth|Growth delay|Delayed growth SNOMEDCT_US:276617005|UMLS:C0456070|UMLS:C0151686|UMLS:C1837385|SNOMEDCT_US:59576002|SNOMEDCT_US:444896005|UMLS:C0878787|UMLS:C3552463 Poor or abnormally slow gains in weight or height in a child. HP:0008893|HP:0001517|HP:0001532|HP:0001434|HP:0008847|HP:0008926|HP:0001514|HP:0008870|HP:0001512|HP:0008886 human_phenotype owl:Class MONDO:0007809 biolink:NamedThing ichthyosis hystrix gravior tmpak2llvmy_mondo_relaxed.owl Lambert type ichthyosis|ichthyosis, Lambert type|porcupine Man|ichthyosis hystrix gravior Orphanet:79504|MESH:C536087|ICD10:Q80.0|ICD9:757.39|GARD:0009497|SCTID:254174005|OMIM:146600 https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior owl:Class MONDO:0006520 biolink:NamedThing Achenbach syndrome A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. tmpak2llvmy_mondo_relaxed.owl paroxysmal hematoma of the finger|Achenbach syndrome EFO:1000661|DOID:6687|PMID:22915534|NCIT:C35467|SCTID:238824006 owl:Class HGNC:10602 biolink:NamedThing SCNN1G tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017710 biolink:NamedThing congenital systemic veins anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:3091 owl:Class MONDO:0019752 biolink:NamedThing pediatric Castleman disease Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. tmpak2llvmy_mondo_relaxed.owl ICD10:D36.0|UMLS:CN206684|Orphanet:93682 owl:Class MONDO:0015564 biolink:NamedThing Castleman disease Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. tmpak2llvmy_mondo_relaxed.owl angiofollicular lymph node hyperplasia|AFLH|Castleman disease|Castleman's disease|angiofollicular lymphoid hyperplasia|GLNH|ALNH|angiofollicular ganglionic hyperplasia|angiofollicular lymph hyperplasia|lymphoid hamartoma|giant lymph node hyperplasia|Castleman's tumor UMLS:CN199886|ICD10:D47.4|UMLS:C2931179|Orphanet:160|ICD10:D47.Z2|UMLS:C0017531|NCIT:C3056|GARD:0012656|DOID:0111157|EFO:1001332|MedDRA:10050251|SCTID:207036003|GARD:0000673 owl:Class MONDO:0012011 biolink:NamedThing coronary artery disease, autosomal dominant, 1 Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene. tmpak2llvmy_mondo_relaxed.owl MEF2A coronary artery disease|ADCAD1|coronary artery disease, autosomal dominant, type 1|coronary artery disease caused by mutation in MEF2A|coronary artery disease with myocardial infarction|coronary artery disease, autosomal dominant, 1 UMLS:C1842247|OMIM:608320|MESH:C564258 owl:Class CL:0000159 biolink:NamedThing seromucus secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0010271 biolink:NamedThing X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. tmpak2llvmy_mondo_relaxed.owl myotubular myopathy with abnormal genital development|Xq28 contiguous gene deletion syndrome UMLS:C1846169|Orphanet:456328|OMIM:300219|MESH:C564561 owl:Class MONDO:0020042 biolink:NamedThing syndrome with 46,XY disorder of sex development tmpak2llvmy_mondo_relaxed.owl syndrome with 46,XY DSD 2022-03-01 Orphanet:98087|UMLS:CN206965 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0009216 biolink:NamedThing glycogen storage disease due to GLUT2 deficiency Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. tmpak2llvmy_mondo_relaxed.owl hepatorenal glycogenosis with renal Fanconi syndrome|glycogen storage disease 11|glycogen storage disease XI|Fanconi-Bickel syndrome|hepatic glycogenosis with Fanconi nephropathy|glycogenosis Fanconi EXACT|Fanconi-Bickel disease|glycogenosis, Fanconi type|Fanconi syndrome with intestinal malabsorption and galactose intolerance|hepatorenal glycogenosis with renal fanconi syndrome|GSD type XI|GSD type 11|hepatic glycogenosis with amino aciduria and glucosuria|Fanconi Bickel syndrome|glycogenosis due to GLUT2 deficiency|pseudo-phlorizin diabetes|glycogen storage disease due to GLUT2 deficiency|glycogen storage disease type XI|GSD due to GLUT2 deficiency|FBS|GLUT2 deficiency|glycogen storage disease type 11|Bickel-Fanconi glycogenosis OMIM:227810|Orphanet:2088|ICD10:E74.0|SCTID:61598006|GARD:0002268 https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome owl:Class MONDO:0019226 biolink:NamedThing glucose transport disorder An acquired metabolic disease that is has its basis in the disruption of glucose transport. tmpak2llvmy_mondo_relaxed.owl inborn error of glucose transport|rare inborn error of glucose transport Orphanet:79178|ICD10:E74.8|UMLS:CN227593 owl:Class MONDO:0009402 biolink:NamedThing acrofrontofacionasal dysostosis 2 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. tmpak2llvmy_mondo_relaxed.owl acrofrontofacionasal dysostosis type 2|acrofrontofacionasal dysostosis 2|acrofrontofacionasal syndrome type 2|acrofrontofacionasal dysostosis, severe|hypertelorism, hypospadias, and polysyndactyly syndrome|acrofrontofacionasal dysostosis with genitourinary anomalies|hypertelorism-hypospadias-polysyndactyly syndrome|hypertelorism hypospadias polysyndactyly syndrome|Naguib syndrome|Naguib-Richieri-Costa syndrome|AFFN dysostosis 2 OMIM:239710|Orphanet:2211|ICD10:Q87.8|SCTID:721835008|MESH:C538332|GARD:0000287 owl:Class HGNC:5970 biolink:NamedThing IL12B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030908 biolink:NamedThing intellectual disability, X-linked, syndromic, 35 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic, 35|intellectual disability, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|MRXS35|syndromic X-linked intellectual disability 35 DOID:0080241|OMIM:300998 owl:Class GO:0032412 biolink:NamedThing regulation of ion transmembrane transporter activity Any process that modulates the activity of an ion transporter. tmpak2llvmy_mondo_relaxed.owl regulation of ion transporter activity owl:Class GO:0022898 biolink:NamedThing regulation of transmembrane transporter activity Any process that modulates the frequency, rate or extent of transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004902 biolink:NamedThing interstitial keratitis tmpak2llvmy_mondo_relaxed.owl ICD10:H16.30|DOID:9857|UMLS:C0155088|ICD9:370.50 owl:Class GO:0090024 biolink:NamedThing negative regulation of neutrophil chemotaxis Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902623 biolink:NamedThing negative regulation of neutrophil migration Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. tmpak2llvmy_mondo_relaxed.owl down-regulation of neutrophil migration|down regulation of neutrophil migration|inhibition of neutrophil migration|downregulation of neutrophil migration owl:Class MONDO:0032901 biolink:NamedThing Catifa syndrome tmpak2llvmy_mondo_relaxed.owl CATIFA|Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME OMIM:618761 owl:Class MONDO:0002182 biolink:NamedThing communication disorder A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. tmpak2llvmy_mondo_relaxed.owl communicative disorders DOID:2033|ICD9:307.9|MESH:D003147|ICD10:F80.9|NCIT:C2958|SCTID:278919001 https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels owl:Class CHEBI:33655 biolink:NamedThing aromatic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. tmpak2llvmy_mondo_relaxed.owl aromatics|aromatische Verbindungen|aromatic compounds|aromatic molecular entity owl:Class GO:0009913 biolink:NamedThing epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. tmpak2llvmy_mondo_relaxed.owl hypodermal cell differentiation owl:Class GO:0030855 biolink:NamedThing epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004910 biolink:NamedThing epithelium of male gonad An epithelium surrounding a testis. tmpak2llvmy_mondo_relaxed.owl testis sheath|testis epithelium owl:Class UBERON:0003091 biolink:NamedThing thyroid primordium The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. tmpak2llvmy_mondo_relaxed.owl thyroid primordia owl:Class UBERON:0019190 biolink:NamedThing mucous gland of lung tmpak2llvmy_mondo_relaxed.owl bronchial gland|peribronchial gland|bronchial mucous gland owl:Class MONDO:0016006 biolink:NamedThing Cockayne syndrome Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl dwarfism-retinal atrophy-deafness syndrome|Cockayne's syndrome|progeroid nanism|progeria-like syndrome|Neill-Dingwall syndrome NCIT:C9460|SCTID:21086008|ICD10:Q87.1|MedDRA:10009835|GARD:0006122|UMLS:C0009207|MESH:D003057|DOID:2962|Orphanet:191|ICD9:759.89 owl:Class MONDO:0016107 biolink:NamedThing myotonic dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. tmpak2llvmy_mondo_relaxed.owl myotonia atrophica|myotonia dystrophica|myotonic disease|inherited myotonic dystrophy OMIMPS:160900|ICD9:359.2|GARD:0010419|Orphanet:206647|DOID:450|MESH:D009223|MedDRA:10068871|NCIT:C84914|ICD10:G71.1|SCTID:240104008|UMLS:C0027126 owl:Class MONDO:0019903 biolink:NamedThing ring chromosome 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). tmpak2llvmy_mondo_relaxed.owl Ring 2|Ring chromosome 2 syndrome|rose cluster 2|R2|chromosome 2 ring|Ring chromosome type 2 GARD:0010837|SCTID:765485000|UMLS:C4707448|Orphanet:96171|NCIT:C121981|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 owl:Class MONDO:0014431 biolink:NamedThing LIPE-related familial partial lipodystrophy tmpak2llvmy_mondo_relaxed.owl familial partial lipodystrophy type 6|lipodystrophy, familial partial, type 6|lipodystrophy, familial partial, associated with Lipe mutations|LIPE-related FPLD|FPLD6|familial partial lipodystrophy associated with LIPE mutations Orphanet:435660|ICD10:E88.1|OMIM:615980|GARD:0013126|DOID:0070206|UMLS:C4014869 https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy owl:Class MONDO:0020088 biolink:NamedThing familial partial lipodystrophy Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. tmpak2llvmy_mondo_relaxed.owl lipodystrophy, familial partial|FPLD|genetic partial lipodystrophy|Koberling-Dunnigan syndrome|congenital partial lipodystrophy MESH:D052496|SCTID:49292002|UMLS:C0271694|ICD10:E88.1|NCIT:C84708|OMIMPS:151660|DOID:0050440|GARD:0011962|Orphanet:98306 owl:Class HGNC:10914 biolink:NamedThing SLC12A6 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:63551 biolink:NamedThing carbohydrate acid derivative anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. tmpak2llvmy_mondo_relaxed.owl carbohydrate acid derivative anions|carbohydrate acid anion derivatives|carbohydrate acid anion derivative owl:Class CL:1001598 biolink:NamedThing small intestine glandular cell A glandular cell found in the epithelium of the small intestine. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Somatostatin-secreting Cells (D-cells) . tmpak2llvmy_mondo_relaxed.owl small intestine glandular cells|small bowel glandular cell|small intestinal glandular cell FMA:86928|CALOHA:TS-1286 owl:Class CL:0002254 biolink:NamedThing epithelial cell of small intestine An epithelial cell of the small intestine. tmpak2llvmy_mondo_relaxed.owl FMA:256159 tmeehan 2010-09-08T09:41:46Z CL:1000293 cell owl:Class MONDO:0014383 biolink:NamedThing myopathy, tubular aggregate, 2 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. tmpak2llvmy_mondo_relaxed.owl ORAI1 tubular aggregate myopathy|myopathy, tubular aggregate, 2|tubular aggregate myopathy caused by mutation in ORAI1|myopathy, tubular aggregate, type 2|TAM2 UMLS:C4014557|OMIM:615883 owl:Class MONDO:0008051 biolink:NamedThing tubular aggregate myopathy Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. tmpak2llvmy_mondo_relaxed.owl myopathy, tubular aggregate, 1|TAM1|myopathy, tubular aggregate, type 1|tubular aggregate myopathy OMIMPS:160565|Orphanet:2593|ICD10:G71.2|GARD:0003884|DOID:0080089 https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy owl:Class GO:0032350 biolink:NamedThing regulation of hormone metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpak2llvmy_mondo_relaxed.owl regulation of hormone metabolism owl:Class MONDO:0008817 biolink:NamedThing arterial calcification, generalized, of infancy, 1 An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. tmpak2llvmy_mondo_relaxed.owl arterial calcification of infancy caused by mutation in ENPP1|arterial calcification, idiopathic infantile|arterial calcification, generalized, of infancy, 1|GACI1|Gaci|arteriopathy, occlusive infantile|ENPP1 arterial calcification of infancy|coronary sclerosis, medial, of infancy|idiopathic infantile arterial calcification|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, type 1 OMIM:208000|NCIT:C128805 owl:Class MONDO:0018870 biolink:NamedThing arterial calcification of infancy Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. tmpak2llvmy_mondo_relaxed.owl infantile arteriosclerosis|generalized arterial calcification in infancy|idiopathic infantile arterial calcification|generalized arterial calcification of infancy|idiopathic obliterative arteriopathy|occlusive infantile arteriopathy|IIAC MESH:C537440|Orphanet:51608|GARD:0008380|DOID:0050644|OMIMPS:208000|ICD10:Q28.8 owl:Class GO:1903034 biolink:NamedThing regulation of response to wounding Any process that modulates the frequency, rate or extent of response to wounding. tmpak2llvmy_mondo_relaxed.owl regulation of physiological response to wounding owl:Class MONDO:0024651 biolink:NamedThing corticosteroid-induced osteoporosis tmpak2llvmy_mondo_relaxed.owl osteoporosis due to corticosteroid|osteoporosis caused by corticosteroid UMLS:C1272167|ICD9:733.09|SCTID:390833005 owl:Class MONDO:0024650 biolink:NamedThing drug-induced osteoporosis tmpak2llvmy_mondo_relaxed.owl drug-induced osteoporosis ICD9:733.09|SCTID:14651005 owl:Class UBERON:0014398 biolink:NamedThing respiratory muscle Muscle that is part of the respiratory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003674 biolink:NamedThing subendocardial myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. tmpak2llvmy_mondo_relaxed.owl subendocardium layer myocardial infarction (disease)|myocardial infarction (disease) of subendocardium layer DOID:5849|UMLS:C0262568 owl:Class CL:0000562 biolink:NamedThing nucleate erythrocyte An erythrocyte having a nucleus. tmpak2llvmy_mondo_relaxed.owl red blood cell|RBC cell owl:Class CL:0000232 biolink:NamedThing erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. tmpak2llvmy_mondo_relaxed.owl red blood cell|RBC FMA:81100|CALOHA:TS-0290|BTO:0000424 cell owl:Class MONDO:0011366 biolink:NamedThing ovarian germ cell tumor A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. tmpak2llvmy_mondo_relaxed.owl germ cell neoplasm of the ovary|ovarian germ cell cancer|germ cell tumor of ovary|ovary germ cell tumor|germ cell tumor of the ovary|ovarian germ cell neoplasm|ovarian germ cell tumor|germ cell neoplasm of ovary EFO:1000419|GARD:0009330|ICD9:239.5|ONCOTREE:OGCT|DOID:2156|UMLS:C0238324|NCIT:C3873|SCTID:237059008|OMIM:603737 Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' owl:Class MONDO:0013745 biolink:NamedThing Joubert syndrome 14 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 14|Joubert syndrome 14|Joubert syndrome caused by mutation in TMEM237|JBTS14|TMEM237 Joubert syndrome UMLS:C3280766|DOID:0110983|OMIM:614424 owl:Class MONDO:0010759 biolink:NamedThing Wildervanck syndrome Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness. tmpak2llvmy_mondo_relaxed.owl cervico-oculo-acoustic dysplasia|Wildervanck syndrome|cervico-oculo-acoustic syndrome|COA syndrome|Cervicooculoacoustic syndrome ICD10:Q87.8|Orphanet:3456|OMIM:314600|UMLS:C0265239|MedDRA:10069402|ICD9:759.89|GARD:0005569|SCTID:79665007 https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome owl:Class UBERON:0001806 biolink:NamedThing sympathetic ganglion A ganglion of the sympathetic nervous system. Examples: paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia tmpak2llvmy_mondo_relaxed.owl sympathetic part of autonomic division of nervous system ganglion|ganglion sympathicum|ganglion of sympathetic nervous system|ganglion sympatheticum|ganglion of sympathetic part of autonomic division of nervous system|sympathetic nervous system ganglion owl:Class MONDO:0002448 biolink:NamedThing laryngeal sarcoma A rare malignant soft tissue neoplasm that arises from the larynx. tmpak2llvmy_mondo_relaxed.owl sarcoma of larynx|laryngeal sarcoma|sarcoma of the larynx|larynx sarcoma NCIT:C6020|DOID:2877|UMLS:C1334377 owl:Class UBERON:0004466 biolink:NamedThing musculature of leg Any collection of muscles that is part of a lower leg or upper leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl leg muscle system owl:Class UBERON:0004482 biolink:NamedThing musculature of lower limb Any collection of muscles that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of muscles of free lower limb|musculature of free lower limb|free lower limb musculature|muscle group of free lower limb owl:Class CHEBI:53368 biolink:NamedThing ionic macromolecule A macromolecule containing ionic groups. tmpak2llvmy_mondo_relaxed.owl polyionic macromolecule|ionic polymer owl:Class CHEBI:33839 biolink:NamedThing macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl polymer|polymer molecule|macromolecules|polymers|macromolecule owl:Class GO:0042742 biolink:NamedThing defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. tmpak2llvmy_mondo_relaxed.owl resistance response to pathogenic bacterium|defence response to bacteria|defense response to bacterium, incompatible interaction|antibacterial peptide activity|resistance response to pathogenic bacteria|defence response to bacterium|defense response to bacteria owl:Class GO:0098542 biolink:NamedThing defense response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. tmpak2llvmy_mondo_relaxed.owl resistance response to pathogen|defence response incompatible interaction|defence response to pathogen, incompatible interaction|defense response, incompatible interaction owl:Class GO:0045935 biolink:NamedThing positive regulation of nucleobase-containing compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class MONDO:0014805 biolink:NamedThing Hao-Fountain syndrome A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene. tmpak2llvmy_mondo_relaxed.owl monosomy 16p13.2|Hao-Fountain syndrome|HAFOUS|Del(16)(p13.2)|16p13.2 microdeletion syndrome|chromosome 16p13.2 deletion syndrome|chromosome 16P13.2 deletion syndrome|USP7-related neurodevelopmental disorder OMIM:616863|UMLS:C4225667|Orphanet:500055 owl:Class GO:0071827 biolink:NamedThing plasma lipoprotein particle organization A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. tmpak2llvmy_mondo_relaxed.owl plasma lipoprotein particle organisation owl:Class MONDO:0018869 biolink:NamedThing cobblestone lissencephaly Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. tmpak2llvmy_mondo_relaxed.owl lissencephaly type 2 Orphanet:51577|SCTID:253149002|ICD10:Q04.3 owl:Class GO:0002250 biolink:NamedThing adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). tmpak2llvmy_mondo_relaxed.owl acquired immune response|immune memory response owl:Class GO:0045840 biolink:NamedThing positive regulation of mitotic nuclear division Any process that activates or increases the frequency, rate or extent of mitosis. tmpak2llvmy_mondo_relaxed.owl activation of mitosis|stimulation of mitosis|positive regulation of mitosis|up regulation of mitosis|mitogenic activity|upregulation of mitosis|up-regulation of mitosis owl:Class GO:0090068 biolink:NamedThing positive regulation of cell cycle process Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043762 biolink:NamedThing tubal pregnancy An abnormal pregnancy in which the conception is implanted in the fallopian tube. tmpak2llvmy_mondo_relaxed.owl ectopic pregnancy of fallopian tube|fallopian pregnancy|fallopian tube pregnancy|tubal pregnancy|tubal Pregnancies|Pregnancies, tubal|fallopian tube ectopic pregnancy NCIT:C92946|SCTID:79586000|MESH:D011274 owl:Class MONDO:0018389 biolink:NamedThing male infertility due to gonadal dysgenesis or sperm disorder tmpak2llvmy_mondo_relaxed.owl Male infertility due to testicular dysgenesis or sperm disorder 2022-03-01 Orphanet:399764|ICD10:N46|UMLS:CN227337 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0003816 biolink:NamedThing articular cartilage disease A disease involving the articular cartilage of joint. tmpak2llvmy_mondo_relaxed.owl articular cartilage disorder involving upper arm|articular cartilage disorder involving shoulder region|articular cartilage disorder of upper arm|articular cartilage disorder involving forearm|articular cartilage disorder of hand|articular cartilage disorder|articular cartilage disorder of ankle and/or foot|articular cartilage disorder of the pelvic region and thigh|disorder of articular cartilage|articular cartilage disorder of shoulder region|articular cartilage disorder of multiple sites|articular cartilage disorder of forearm|articular cartilage of joint disease|disease or disorder of articular cartilage of joint|articular cartilage disorder involving ankle and foot|disease of articular cartilage of joint|articular cartilage disorder involving hand|articular cartilage of joint disease or disorder|articular cartilage disorder involving multiple sites|articular cartilage disorder involving pelvic region and thigh|disorder of articular cartilage of joint ICD9:718.02|SCTID:53417006|ICD9:718.00|DOID:6227|UMLS:C0158073|ICD9:718.0 owl:Class HGNC:1353 biolink:NamedThing C8B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009576 biolink:NamedThing megalocornea tmpak2llvmy_mondo_relaxed.owl anterior megalophthalmos|megalocornea (disease)|megalocornea megalocornea (disease) SCTID:268158009|MESH:C562829|HP:0000485|HP:0007660|DOID:0060305|OMIM:249300 owl:Class UBERON:0035216 biolink:NamedThing thoracic part of esophagus Zone of esophagus located in the thorax. tmpak2llvmy_mondo_relaxed.owl pars thoracica oesophageae|thoracic esophagus|pars thoracica (oesophagus)|thoracic part of oesophagus owl:Class ENVO:01000983 biolink:NamedThing technosphere A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030812 biolink:NamedThing negative regulation of nucleotide catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpak2llvmy_mondo_relaxed.owl downregulation of nucleotide catabolic process|negative regulation of nucleotide breakdown|down regulation of nucleotide catabolic process|negative regulation of nucleotide catabolism|negative regulation of nucleotide degradation|down-regulation of nucleotide catabolic process|inhibition of nucleotide catabolic process owl:Class GO:0045980 biolink:NamedThing negative regulation of nucleotide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpak2llvmy_mondo_relaxed.owl downregulation of nucleotide metabolic process|down regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|negative regulation of nucleotide metabolism|down-regulation of nucleotide metabolic process owl:Class HP:0010576 biolink:NamedThing Intracranial cystic lesion A cystic lesion originating within the brain. tmpak2llvmy_mondo_relaxed.owl Cerebral cystic malformation UMLS:C4021250 sandra1 2009-10-22T01:38:49Z human_phenotype owl:Class HGNC:319 biolink:NamedThing ACAN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037738 biolink:NamedThing cauda equina cancer A cancer that involves the cauda equina. tmpak2llvmy_mondo_relaxed.owl cancer of cauda equina|malignant neoplasm of cauda equina|malignant cauda equina neoplasm UMLS:C0349017|SCTID:363477002 owl:Class MONDO:0012257 biolink:NamedThing Cerebrorenodigital syndrome tmpak2llvmy_mondo_relaxed.owl CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula Orphanet:1396|MESH:C563731|ICD10:Q87.8|OMIM:609345|UMLS:C1836287 owl:Class MONDO:0000480 biolink:NamedThing anismus A focal dystonia of the pelvic floor muscles during attempted defecation. tmpak2llvmy_mondo_relaxed.owl rectosphincteric dyssynergia|spastic pelvic floor syndrome|puborectalis syndrome|focal dystonia of anal region skeletal muscle|dyskinetic puborectalis|sphincteric disobedience syndrome|dyssynergic defecation|anal region skeletal muscle focal dystonia UMLS:C0267601|DOID:0050839|SCTID:83605009|ICD9:569.49 owl:Class MONDO:0019511 biolink:NamedThing autosomal dominant medullary cystic kidney disease with hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. tmpak2llvmy_mondo_relaxed.owl autosomal dominant medullary cystic kidney disease with hyperuricemia|UMOD-related ADTKD|ADMCKD2|autosomal dominant medullary cystic kidney disease type 2|ADTKD-UMOD|autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD|UMOD-related autosomal dominant tubulointerstitial kidney disease ICD10:Q61.5|Orphanet:88950|UMLS:CN206322|GARD:0010679 owl:Class MONDO:0010159 biolink:NamedThing mismatch repair cancer syndrome 1 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. tmpak2llvmy_mondo_relaxed.owl brain tumor-polyposis syndrome 1|brain tumor-polyposis syndrome|childhood cancer syndrome|malignant tumors of the central nervous system associated with familial polyposis of the colon|mismatch repair deficiency|constitutional mismatch repair deficiency syndrome|MMRCS1|mismatch repair cancer syndrome|BTP1 syndrome|MMRCS|CMMR-D syndrome|constitutional MIS-match repair deficiency syndrome|CNS tumors with familial polyposis of the colon|MMR deficiency|mismatch repair cancer syndrome 1|CMMR-D|glioma-polyposis syndrome|Turcot syndrome GARD:0000420|UMLS:C0265325|UMLS:C4321324|OMIM:276300|MESH:C536928|Orphanet:252202|SCTID:61665008|NCIT:C130202 owl:Class MONDO:0014989 biolink:NamedThing uncombable hair syndrome 2 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene. tmpak2llvmy_mondo_relaxed.owl uncombable hair syndrome type 2|TGM3 uncombable hair syndrome|uncombable hair syndrome 2|uncombable hair syndrome 2; UHS2|uncombable hair syndrome caused by mutation in TGM3|UHS2 OMIM:617251|UMLS:C4310649 owl:Class MONDO:0008621 biolink:NamedThing uncombable hair syndrome Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. tmpak2llvmy_mondo_relaxed.owl uncombable hair syndrome|cheveux incoiffables|pili trianguli et canaliculi|spun glass hair|unmanageable hair syndrome GARD:0005404|UMLS:C0432347|MESH:C536939|Orphanet:1410|ICD10:Q84.1|SCTID:254230001 https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome owl:Class CL:0011115 biolink:NamedThing precursor cell A cell that, by division or terminal differentiation, can give rise to other cell types. tmpak2llvmy_mondo_relaxed.owl Work is needed on GO 'cell differentiation' before it is clear whether the equivalent class definition 'native cell' that capable_of some 'cell differentiation' works. Also, may want to consider merging this with non-terminally differentiated cell. owl:Class MONDO:0021656 biolink:NamedThing nongerminomatous germ cell tumor A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. tmpak2llvmy_mondo_relaxed.owl non-dysgerminomatous germ cell tumor|non-germinomatous germ cell tumor|NSGCT|Nongerminomatous germ cell tumor Including central nervous system|non-seminomatous germ cell tumor|Nongerminomatous germ cell tumor NCIT:C121619|GARD:0010165|ONCOTREE:NSGCT owl:Class CL:0000825 biolink:NamedThing pro-NK cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. tmpak2llvmy_mondo_relaxed.owl natural killer cell progenitor|null cell|NKP|pro-natural killer cell|preNK cell Most markers only described for human pro NK cells. cell owl:Class CHEBI:39317 biolink:NamedThing growth regulator Any chemical substance that inhibits the life-cycle of an organism. tmpak2llvmy_mondo_relaxed.owl growth regulators owl:Class CHEBI:24432 biolink:NamedThing biological role A role played by the molecular entity or part thereof within a biological context. tmpak2llvmy_mondo_relaxed.owl biological function owl:Class MONDO:0003777 biolink:NamedThing renal pelvis urothelial papilloma A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. tmpak2llvmy_mondo_relaxed.owl renal pelvis urothelial papilloma DOID:6119|NCIT:C4528|UMLS:C1514844 owl:Class MONDO:0006239 biolink:NamedThing head and neck paraganglioma A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. tmpak2llvmy_mondo_relaxed.owl paraganglioma of head and neck|paraganglioma of the head and neck|head and neck paraganglioma|paraganglioma of craniocervical region|craniocervical region paraganglioma EFO:1000288|NCIT:C5327|UMLS:C1333944 owl:Class MONDO:0014569 biolink:NamedThing lethal congenital contracture syndrome 7 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in CNTNAP1|lethal congenital contracture syndrome 7|CNTNAP1 lethal congenital contracture syndrome|LCCS7|lethal congenital contracture syndrome type 7 UMLS:C4225386|OMIM:616286 owl:Class MONDO:0017049 biolink:NamedThing hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. tmpak2llvmy_mondo_relaxed.owl Boylan-dew syndrome UMLS:CN202399|Orphanet:2680 owl:Class MONDO:0043458 biolink:NamedThing radiation injury Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. tmpak2llvmy_mondo_relaxed.owl sickness, radiation|radiation injury|radiation syndromes|Injuries, radiation|syndrome, radiation|injury, radiation|radiation sickness|syndromes, radiation|radiation syndrome|Sicknesses, radiation|radiation Sicknesses MESH:D011832|UMLS:C0034535 owl:Class MONDO:0043459 biolink:NamedThing radiation-induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. tmpak2llvmy_mondo_relaxed.owl Abnormality, radiation-induced|radiation induced abnormalities|radiation-induced Abnormality|radiation-induced disorder|abnormalities, radiation induced|radiation-induced abnormalities Orphanet:521132|MESH:D000016|SCTID:85983004|UMLS:C1527225|NCIT:C26684 owl:Class MONDO:0010815 biolink:NamedThing spondyloepiphyseal dysplasia tarda with characteristic facies tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda with characteristic facies OMIM:600093|MESH:C564003|UMLS:C1838653 owl:Class MONDO:0019667 biolink:NamedThing spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. tmpak2llvmy_mondo_relaxed.owl DOID:0080362|Orphanet:93284|ICD9:756.9|ICD10:Q77.7|SCTID:51952004 owl:Class MONDO:0020321 biolink:NamedThing acute undifferentiated leukemia A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. tmpak2llvmy_mondo_relaxed.owl acute myeloid leukemia, minimal differentiation, FAB M0|AUL|leukemia stem cell|stem cell leukemia|undifferentiated acute leukemia|stem cell acute leukemia|acute undifferentiated leukemia ICD10:C95.0|UMLS:C1282947|UMLS:C0280141|UMLS:C0856823|MedDRA:10045516|Orphanet:98835|SCTID:359631009|NCIT:C9298|ONCOTREE:AUL owl:Class MONDO:0008460 biolink:NamedThing splenogonadal fusion-limb defects-micrognathia syndrome Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. tmpak2llvmy_mondo_relaxed.owl SGFLD syndrome|Sgfld syndrome|splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia|splenogonadal fusion limb defect syndrome|splenogonadal fusion with limb defects and micrognathia Orphanet:2063|MESH:C537318|ICD10:Q87.8|GARD:0004963|UMLS:C1866745|SCTID:726724005|OMIM:183300 owl:Class MONDO:0018592 biolink:NamedThing cutaneous polyarteritis nodosa Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl cutaneous PAN|cutaneous periarteritis nodosa Orphanet:439729|SCTID:239926000|ICD9:709.8|NCIT:C117295|UMLS:CN242143|UMLS:C0343190|GARD:0007415|ICD10:M30.0 https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa owl:Class MONDO:0018593 biolink:NamedThing primary polyarteritis nodosa tmpak2llvmy_mondo_relaxed.owl primary periarteritis nodosa|primary PAN Orphanet:439737|ICD10:M30.0|UMLS:CN237623 owl:Class MONDO:0018697 biolink:NamedThing 1p35.2 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl deletion 1p35.2|monosomy 1p35.2|Del(1)(p35.2) ICD10:Q93.5|Orphanet:456298|UMLS:CN237766 owl:Class MONDO:0000369 biolink:NamedThing abdominal tuberculosis An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. tmpak2llvmy_mondo_relaxed.owl tuberculosis of abdomen SCTID:447330002|DOID:0050599|ICD9:014.80|UMLS:C0740652 owl:Class NCBITaxon:115425 biolink:NamedThing Cochliomyia hominivorax tmpak2llvmy_mondo_relaxed.owl primary screw-worm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:66360 biolink:NamedThing Cochliomyia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001635 biolink:NamedThing superior cerebellar artery The superior cerebellar artery (SCA) arises near the termination of the basilar artery. It passes lateralward, immediately below the oculomotor nerve, which separates it from the posterior cerebral artery, winds around the cerebral peduncle, close to the trochlear nerve, and, arriving at the upper surface of the cerebellum, divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries. Several branches are given to the pineal body, the anterior medullary velum, and the tela chorioidea of the third ventricle. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria superior cerebelli owl:Class UBERON:0003472 biolink:NamedThing cerebellar artery An artery that supplies blood to the cerebellum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032817 biolink:NamedThing neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES|NDCAGF OMIM:618571|DOID:0070346 owl:Class NCBITaxon:1437010 biolink:NamedThing Boreoeutheria tmpak2llvmy_mondo_relaxed.owl Boreotheria PMID:11743200|GC_ID:1|PMID:11791233 ncbi_taxonomy owl:Class NCBITaxon:9347 biolink:NamedThing Eutheria tmpak2llvmy_mondo_relaxed.owl eutherian mammals|placentals|placental mammals|Placentalia GC_ID:1 ncbi_taxonomy owl:Class PATO:0001241 biolink:NamedThing physical object quality A quality which inheres in a continuant. tmpak2llvmy_mondo_relaxed.owl monadic quality of continuant|monadic quality of a continuant|quality of an object|monadic quality of an object|multiply inhering quality of a physical entity|quality of a single physical entity|quality of a continuant|quality of continuant owl:Class MONDO:0000989 biolink:NamedThing mumps infectious disease A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. tmpak2llvmy_mondo_relaxed.owl mumps|epidemic parotitis|mumps virus infectious disease|Mumps virus disease or disorder|Mumps virus infectious disease|Mumps virus caused disease or disorder MESH:D009107|EFO:0007383|SCTID:36989005|ICD9:072|ICD10:B26.9|DOID:10264|UMLS:C0026780|MESH:D019351|GARD:0007116|ICD10:B26|NCIT:C29888 MONDO:0005863 https://rarediseases.info.nih.gov/diseases/7116/mumps owl:Class HP:0001384 biolink:NamedThing Abnormal hip joint morphology An abnormality of the hip joint. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hip joint|Abnormality of the hip joints UMLS:C4020870 human_phenotype owl:Class HP:0003272 biolink:NamedThing Abnormal hip bone morphology An abnormality of the hip bone. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hip bone|Abnormality of the hips UMLS:C4021735 The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. human_phenotype owl:Class GO:0016043 biolink:NamedThing cellular component organization A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpak2llvmy_mondo_relaxed.owl cell organisation|cellular component organisation in other organism|cellular component organization in other organism|cellular component organisation at cellular level|cellular component organization at cellular level|cell organization and biogenesis owl:Class GO:0071840 biolink:NamedThing cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpak2llvmy_mondo_relaxed.owl cellular component organization or biogenesis at cellular level|cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level owl:Class MONDO:0015273 biolink:NamedThing complete atrioventricular canal Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. tmpak2llvmy_mondo_relaxed.owl common atrioventricular canal|complete atrioventricular septal defect|CAVC ICD10:Q21.2|GARD:0001454|ICD9:745.69|MESH:C535974|Orphanet:1329|SCTID:360481003 https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal owl:Class MONDO:0002885 biolink:NamedThing erythrasma A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. tmpak2llvmy_mondo_relaxed.owl infection due to Corynebacterium minutissimum ICD10:L08.1|MESH:D004894|EFO:1000696|ICD9:041.85|SCTID:264207005|UMLS:C2364003|DOID:4131|UMLS:C0014752 owl:Class MONDO:0002922 biolink:NamedThing pyoderma Any skin disease that is pyegenic. tmpak2llvmy_mondo_relaxed.owl DOID:4223|SCTID:70759006|ICD9:686.00|MESH:D011711|UMLS:C0034212|ICD9:686.0|ICD9:686.09|ICD10:L08.0 owl:Class UBERON:0018692 biolink:NamedThing dorsal side of post-anal tail tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034929 biolink:NamedThing external soft tissue zone A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003500 biolink:NamedThing squamous cell bile duct carcinoma A squamous cell carcinoma that involves the bile duct. tmpak2llvmy_mondo_relaxed.owl bile duct squamous cell carcinoma UMLS:C0861861|DOID:5537 owl:Class CHEBI:33504 biolink:NamedThing alkali metal cation tmpak2llvmy_mondo_relaxed.owl alkali metal cations owl:Class ECTO:9000049 biolink:NamedThing exposure to carbon dioxide An exposure to carbon dioxide. tmpak2llvmy_mondo_relaxed.owl exposure to carbon dioxide owl:Class MONDO:0007412 biolink:NamedThing Beare-Stevenson cutis gyrata syndrome Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. tmpak2llvmy_mondo_relaxed.owl cutis gyrata - acanthosis nigricans - craniosynostosis|Beare Stevenson syndrome|Beare-Stevenson syndrome|Beare-Stevenson cutis gyrata syndrome|BSTVS|cutis gyrata syndrome of Beare and Stevenson|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome GARD:0000332|SCTID:703528008|OMIM:123790|MESH:C565129|ICD9:759.89|UMLS:C1852406|DOID:0050660|ICD10:Q87.8|NCIT:C123813|Orphanet:1555 https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome owl:Class MONDO:0015338 biolink:NamedThing syndromic craniosynostosis A craniosynostosis that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with craniosynostosis|syndromic craniosynostosis Orphanet:139393|UMLS:CN226660 owl:Class MONDO:0007109 biolink:NamedThing congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. tmpak2llvmy_mondo_relaxed.owl CDA type III|Erythroreticulosis, hereditary benign|dyserythropoietic anemia, congenital type 3|anemia, congenital dyserythropoietic, type III|congenital dyserythropoietic anemia type 3|anemia with multinucleated erythroblasts|dyserythropoietic Anemia, congenital, type 3|CDA type 3|CDA 3|CDA III|CDAN3 DOID:0111399|ICD9:285.8|Orphanet:98870|SCTID:26409005|OMIM:105600|GARD:0002002|UMLS:C0271934|ICD10:D64.4 owl:Class MONDO:0019403 biolink:NamedThing congenital dyserythropoietic anemia Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. tmpak2llvmy_mondo_relaxed.owl CDA|dyserythropoietic anemia, congenital|congenital dyshaematopoietic anaemia|anemia, congenital dyserythropoietic SCTID:52951008|Orphanet:85|GARD:0001999|NCIT:C84646|ICD10:D64.4|ICD9:285.8|OMIMPS:224120|MESH:D000742|DOID:1338|UMLS:C0002876 owl:Class GO:2000027 biolink:NamedThing regulation of animal organ morphogenesis Any process that modulates the frequency, rate or extent of animal organ morphogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of histogenesis and organogenesis owl:Class MONDO:0011567 biolink:NamedThing dilated cardiomyopathy 1K A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1K|cardiomyopathy, dilated, 1K|CMD1K MESH:C565320|DOID:0110437|OMIM:605582|ICD10:I42.0|UMLS:C1854159 owl:Class MONDO:0017567 biolink:NamedThing macrodactyly of toes, bilateral tmpak2llvmy_mondo_relaxed.owl macrodactyly of foot, bilateral Orphanet:295245|ICD10:Q74.2 owl:Class MONDO:0017475 biolink:NamedThing macrodactyly of toes tmpak2llvmy_mondo_relaxed.owl megalodactylism of the foot|Megalodactyly of the foot|macrodactyly of foot|macrodactyly of the foot ICD10:Q74.2|HP:0100747|Orphanet:295047|MESH:C537719|GARD:0006951 owl:Class MONDO:0007672 biolink:NamedThing glomuvenous malformation Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. tmpak2llvmy_mondo_relaxed.owl glomangiomas, multiple|glomus tumors, multiple|glomangiomatosis|hereditary glomangioma|Venous malformations with glomus cells|familial glomangioma|GVM|hereditary multiple glomangiomas|multiple glomus tumors|GLOMUVENOUS malformations|VMGLOM|glomuvenous malformation MESH:C536827|UMLS:C1333987|SCTID:715644000|UMLS:C1841984|ICD10:Q27.8|NCIT:C5350|Orphanet:83454|MedDRA:10018381|DOID:7996|OMIM:138000 owl:Class MONDO:0100108 biolink:NamedThing TPM3-related myopathy TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. tmpak2llvmy_mondo_relaxed.owl TPM3 myopathy|autosomal dominant TPM3-related myopathy|congenital myopathy related to TPM3|TPM3-related myopathy The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019952 biolink:NamedThing congenital myopathy tmpak2llvmy_mondo_relaxed.owl congenital myopathy|batten Turner congenital myopathy|myopathy congenital ICD10:G71.2|DOID:0080100|MedDRA:10062547|Orphanet:97245|GARD:0005898 owl:Class GO:0030656 biolink:NamedThing regulation of vitamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl regulation of vitamin metabolism owl:Class GO:2000146 biolink:NamedThing negative regulation of cell motility Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. tmpak2llvmy_mondo_relaxed.owl negative regulation of cell movement|negative regulation of movement of a cell|negative regulation of cell locomotion owl:Class GO:0051271 biolink:NamedThing negative regulation of cellular component movement Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. tmpak2llvmy_mondo_relaxed.owl negative regulation of cellular component motion owl:Class MONDO:0003875 biolink:NamedThing childhood central nervous system mature teratoma A mature teratoma that arises from the central nervous system during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric central nervous system mature teratoma|central nervous system mature teratoma of childhood|childhood central nervous system mature teratoma NCIT:C27404|UMLS:C1332955|DOID:6423 owl:Class MONDO:0003733 biolink:NamedThing central nervous system mature teratoma A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl CNS mature teratoma|mature teratoma of central nervous system|mature teratoma of the central nervous system|mature teratoma|mature teratoma of CNS|central nervous system mature teratoma|mature teratoma of the CNS UMLS:C1332886|ONCOTREE:BMT|DOID:6017|NCIT:C7013 owl:Class UBERON:0005010 biolink:NamedThing mucosa of neck of urinary bladder A mucosa that is part of a neck of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of vesical neck|vesical neck mucosa of organ|organ mucosa of urinary bladder neck|urinary bladder neck mucosa|mucous membrane of bladder neck|mucosa of bladder neck|mucosa of organ of neck of urinary bladder|bladder neck organ mucosa|neck of bladder mucosa|neck of urinary bladder mucosa of organ|mucosa of organ of urinary bladder neck|mucosa of organ of neck of bladder|mucous membrane of neck of bladder|organ mucosa of neck of urinary bladder|bladder neck mucous membrane|mucous membrane of neck of urinary bladder|neck of bladder organ mucosa|bladder neck mucosa of organ|vesical neck mucosa|mucous membrane of vesical neck|mucosa of organ of bladder neck|vesical neck mucous membrane|mucous membrane of urinary bladder neck|mucosa of organ of vesical neck|neck of urinary bladder organ mucosa|neck of urinary bladder mucosa|urinary bladder neck mucous membrane|neck of bladder mucous membrane|neck of bladder mucosa of organ|mucosa of neck of bladder|organ mucosa of bladder neck|organ mucosa of vesical neck|urinary bladder neck mucosa of organ|organ mucosa of neck of bladder|neck of urinary bladder mucous membrane|mucosa of urinary bladder neck|bladder neck mucosa|vesical neck organ mucosa owl:Class NBO:0000747 biolink:NamedThing jaw movement tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000007 biolink:NamedThing mouth movement The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC] tmpak2llvmy_mondo_relaxed.owl mouth part movement|other moved mouth parts owl:Class MONDO:0010164 biolink:NamedThing phocomelia, Schinzel type Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. tmpak2llvmy_mondo_relaxed.owl profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|Al Awadi Teebi Farag syndrome|Al-Awadi-Raas-Rothschild syndrome|Teebi Naguib Al Awadi syndrome|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|Al Awadi-Raas-Rothschild syndrome|Schinzel phocomelia syndrome|absence of ulna and fibula with severe limb deficiency|ulna and fibula absence of with severe limb deficiency|Al-Awadi/Raas-Rothschild syndrome|aplasia/hypoplasia of limbs and pelvis|AARRS|severe limb deficit|congenital absence of ulna and fibula|ulna and fibula, absence of, with severe limb deficiency|limb/pelvis-hypoplasia/aplasia syndrome ICD10:Q87.2|GARD:0005124|Orphanet:2879|SCTID:715522000|MESH:C535612|OMIM:276820|GARD:0009212 owl:Class MONDO:0004503 biolink:NamedThing upper clivus meningioma A meningioma that affects the upper clivus. tmpak2llvmy_mondo_relaxed.owl meningioma of the upper clivus|meningioma of upper clivus UMLS:C1336871|DOID:8221|NCIT:C5290 owl:Class MONDO:0003908 biolink:NamedThing clivus meningioma A meningioma that affects the clivus. tmpak2llvmy_mondo_relaxed.owl clivus of occipital bone meningioma (disease)|meningioma of the clivus|meningioma of clivus|meningioma (disease) of clivus of occipital bone DOID:6517|NCIT:C5289|UMLS:C1333073 owl:Class MONDO:0100116 biolink:NamedThing Middle East respiratory syndrome A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. tmpak2llvmy_mondo_relaxed.owl MERS|camel flu UMLS:C3694279|DOID:0080642|Orphanet:576074|NCIT:C128424 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019695 biolink:NamedThing acromelic dysplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.8|Orphanet:93436 owl:Class MONDO:0024378 biolink:NamedThing circadian rhythm sleep disorder, advanced sleep phase type A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. tmpak2llvmy_mondo_relaxed.owl circadian rhythm sleep disorder, advanced sleep phase|circadian rhythm sleep disorder, advanced sleep phase type|ASPS|advanced sleep phase syndrome|sleep-wake schedule disorder, advanced phase type SCTID:31537005|ICD9:327.32|ICD10:G47.22 owl:Class MONDO:0013190 biolink:NamedThing factor XIII, b subunit, deficiency of tmpak2llvmy_mondo_relaxed.owl factor XIII, b subunit, deficiency of MESH:C567688|OMIM:613235 owl:Class UBERON:0004105 biolink:NamedThing subungual region Region beneath a nail or claw. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006791 biolink:NamedThing hyperemesis gravidarum Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. tmpak2llvmy_mondo_relaxed.owl hyperemesis gravidarum|pernicious vomiting of pregnancy|pregnancy pernicious vomiting|hyperemesis gravidarum (disease) hyperemesis gravidarum (disease) MESH:D006939|MedDRA:10020614|EFO:1000971|SCTID:14094001|HP:0012188 owl:Class MONDO:0024575 biolink:NamedThing pregnancy disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. tmpak2llvmy_mondo_relaxed.owl pregnancy complication|pregnancy disorder|complication, pregnancy|disorder of pregnancy|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|complication of pregnancy or childbirth|pregnancy disease NCIT:C35169|SCTID:173300003|MESH:D011248 owl:Class MONDO:0000286 biolink:NamedThing Epstein-Barr virus hepatitis A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. tmpak2llvmy_mondo_relaxed.owl UMLS:C0554114|SCTID:302919001|DOID:0050204 owl:Class MONDO:0006011 biolink:NamedThing viral hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. tmpak2llvmy_mondo_relaxed.owl Hepatitis viral|human viral hepatitis|unspecified viral hepatitis with hepatic coma|viral Hepatitis|viral human hepatitis|Viruses caused hepatitis|Viruses hepatitis|viral hepatitis with hepatic coma MESH:D006524|UMLS:C0019194|ICD10:B15.B19|UMLS:C0042721|MESH:D006525|NCIT:C35124|SCTID:3738000|ICD9:573.1|DOID:1884|EFO:0004196 Editor note: consider adding term for viral animal viral hepatitis owl:Class MONDO:0016071 biolink:NamedThing juvenile hyaline fibromatosis Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. tmpak2llvmy_mondo_relaxed.owl Murray-Puretic-Drescher syndrome|Molluscum fibrosum|Puretic syndrome|mesenchymal dysplasia NCIT:C98297|ICD9:733.29|SCTID:238861002|ICD10:M72.8|Orphanet:2028 owl:Class UBERON:0004315 biolink:NamedThing distal phalanx of pedal digit 1 A distal phalanx that is part of a foot digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal phalanx of great toe|distal phalanx of pedal digit I|first distal phalanx of foot|hallux distal phalanx|distal phalanx of first digit of foot|distal phalanx of hallux|foot digit 1 distal phalanx|distal phalanx of big toe|distal phalanx of foot digit 1 owl:Class UBERON:0003867 biolink:NamedThing distal phalanx of pes A distal phalanx that is part of a pedal digit [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal pedal phalanx|phalanx distalis pedis|distal phalanx of foot|terminal phalanx of hindlimb|ungual phalanx of hindlimb|distal phalanx of toe|foot distal phalanx|ungual phalanx of foot|terminal phalanx of foot owl:Class MONDO:0003756 biolink:NamedThing ovarian mucinous neoplasm A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl mucinous neoplasm of ovary|ovarian mucinous neoplasm|mucinous tumor of the ovary|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous tumor of ovary|ovarian mucinous tumor NCIT:C5242|UMLS:C1335168|DOID:6067 owl:Class MONDO:0014983 biolink:NamedThing congenital myasthenic syndrome 21 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in SLC18A3|CMS21|myasthenic syndrome, congenital, 21, presynaptic|SLC18A3 congenital myasthenic syndrome|congenital myasthenic syndrome 21, presynaptic|congenital myasthenic syndrome type 21 OMIM:617239|DOID:0110672|UMLS:C4310654 owl:Class UBERON:0001096 biolink:NamedThing wall of esophagus An anatomical wall that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anatomical wall of esophagus|esophagus wall|anatomical wall of gullet|oesophagus anatomical wall|esophageal wall|wall of oesophagus|wall of gullet|gullet wall|anatomical wall of oesophagus|gullet anatomical wall|oesophagus wall|esophagus anatomical wall owl:Class UBERON:0010295 biolink:NamedThing substantia propria of sclera A stroma that is part of a sclera. tmpak2llvmy_mondo_relaxed.owl scleral stroma|stroma of sclera|subsantia propria sclerae|subsantia propria|substantia propria sclerae owl:Class UBERON:0010291 biolink:NamedThing layer of sclera . tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002642 biolink:NamedThing trochlear nerve neoplasm A neoplasm involving a trochlear nerve. tmpak2llvmy_mondo_relaxed.owl neoplasm of trochlear nerve|trochlear nerve neoplasms|tumor of trochlear nerve|trochlear nerve tumor|tumor of the trochlear nerve|neoplasm of the trochlear nerve|neoplasm of the fourth cranial nerve|tumor of the fourth cranial nerve|trochlear nerve neoplasm (disease)|IVth cranial nerve neoplasms|IVth cranial nerve tumors|neoplasm of fourth cranial nerve|fourth cranial nerve tumor|fourth cranial nerve tumors|trochlear nerve tumors|fourth cranial nerve neoplasms|fourth cranial nerve neoplasm|tumor of fourth cranial nerve NCIT:C5825|UMLS:C1263896|ICD9:239.7|SCTID:126970001|DOID:3421 owl:Class MONDO:0003085 biolink:NamedThing keratitis A corneal disease that is characterized by inflammation of the cornea. tmpak2llvmy_mondo_relaxed.owl cornea inflammation|inflammation of cornea UMLS:C0022568|ICD9:370|ICD9:370.8|NCIT:C26805|ICD10:H16|ICD9:370.9|SCTID:5888003|ICD10:H16.9|DOID:4677|MESH:D007634 owl:Class UBERON:0015833 biolink:NamedThing foregut epithelium A epithelium that is part of a foregut. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008281 biolink:NamedThing tooth bud A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. tmpak2llvmy_mondo_relaxed.owl dental germ|tooth germ|dental bud owl:Class UBERON:0005423 biolink:NamedThing developing anatomical structure tmpak2llvmy_mondo_relaxed.owl developmental structure|developing structure|developmental tissue owl:Class HP:0003474 biolink:NamedThing Somatic sensory dysfunction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. tmpak2llvmy_mondo_relaxed.owl Sensory impairment SNOMEDCT_US:59073000|SNOMEDCT_US:397974008|SNOMEDCT_US:398026008|MSH:D006987|UMLS:C0020580 This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. HP:0100964 human_phenotype owl:Class UBERON:0010213 biolink:NamedThing laryngeal pre-cartilage condensation tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021033 biolink:NamedThing herpes zoster dermatitis Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. tmpak2llvmy_mondo_relaxed.owl herpes zoster dermatitis NCIT:C35619 owl:Class UBERON:0003342 biolink:NamedThing mucosa of anal canal A mucosa that is part of an anal canal [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anal canal mucous membrane|anal canal viewed anatomically mucosa of organ|anal region organ mucosa|mucosa of anal canal viewed anatomically|anal mucous membrane|anatomical anal canal mucosa|mucosa of anatomical anal canal|anal mucosa|anal canal viewed anatomically mucosa|organ mucosa of anatomical anal canal|anal canal viewed anatomically organ mucosa|anal region mucosa|mucous membrane of anatomical anal canal|anal canal organ mucosa|anatomical anal canal organ mucosa|anal canal viewed anatomically mucous membrane|anatomical anal canal mucous membrane|anal region mucosa of organ|mucous membrane of anal canal viewed anatomically|organ mucosa of anal canal|anal canal mucosa|mucosa of organ of anal canal|anal region mucous membrane|mucosa of anal region|organ mucosa of anal canal viewed anatomically|mucous membrane of anal canal|anal canal mucosa of organ|organ mucosa of anal region|mucosa of organ of anal region|mucosa of organ of anatomical anal canal|mucosa of organ of anal canal viewed anatomically|anatomical anal canal mucosa of organ|mucous membrane of anal region owl:Class NCBITaxon:84527 biolink:NamedThing Metagonimus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:84526 biolink:NamedThing Heterophyidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003316 biolink:NamedThing mesenchyme of yolk sac The portion of the yolk sac that is derived from mesoderm and consists of mesenchyme. tmpak2llvmy_mondo_relaxed.owl yolk sac mesenchyme owl:Class GO:0099240 biolink:NamedThing intrinsic component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to synaptic membrane owl:Class GO:0031226 biolink:NamedThing intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to plasma membrane owl:Class MONDO:0008607 biolink:NamedThing triphalangeal thumbs-brachyectrodactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl triphalangeal thumb and brachy-ectrodactyly syndrome|triphalangeal thumbs brachyectrodactyly|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumbs with brachyectrodactyly|triphalangeal thumb and brachyectrodactyly syndrome OMIM:190680|MESH:C536564|Orphanet:2947|GARD:0005290|ICD10:Q74.8|UMLS:C1860804 owl:Class UBERON:0009291 biolink:NamedThing cartilaginous vertebral centrum Cartilaginous form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. tmpak2llvmy_mondo_relaxed.owl cartilaginous centrum of vertebra|postcaudal cartilaginous centrum owl:Class MONDO:0001353 biolink:NamedThing Bordetella parapertussis infectious disease Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough. tmpak2llvmy_mondo_relaxed.owl infection due to Bordetella parapertussis|Bordetella parapertussis infection|infection caused by Bordetella parapertussis|Bordetella parapertussis disease or disorder|Bordetella parapertussis whooping cough|Bordetella parapertussis caused disease or disorder UMLS:C0275742|DOID:11750|ICD10:A37.1|ICD9:033.1|SCTID:77116006 owl:Class CL:0000167 biolink:NamedThing peptide hormone secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0012222 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. tmpak2llvmy_mondo_relaxed.owl NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency, adult-onset|Alpha-N-acetylgalactosaminidase deficiency, type 2|KANZAKI disease|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Schindler disease, type 2|Schindler disease type 2|Alpha-N-acetylgalactosaminidase deficiency adult onset|Kanzaki disease|Naga deficiency, type 2 ICD10:E77.1|OMIM:609242|GARD:0009161|UMLS:C1836522|Orphanet:79280 owl:Class MONDO:0017779 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. tmpak2llvmy_mondo_relaxed.owl Schindler disease|disorder of alpha-N-acetylgalactosaminidase activity|NAGA deficiency|alpha-N-acetylgalactosaminidase activity disease ICD9:277.89|Orphanet:3137|SCTID:238048001|ICD10:E77.1 owl:Class MONDO:0019628 biolink:NamedThing Rieger anomaly Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly. tmpak2llvmy_mondo_relaxed.owl MedDRA:10059198|ICD10:Q13.8|Orphanet:91483 owl:Class MONDO:0000224 biolink:NamedThing acquired carbohydrate metabolism disease An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism. tmpak2llvmy_mondo_relaxed.owl carbohydrate metabolism disease DOID:0050013 owl:Class GO:0060561 biolink:NamedThing apoptotic process involved in morphogenesis Any apoptotic process that contributes to the shaping of an anatomical structure. tmpak2llvmy_mondo_relaxed.owl apoptosis involved in morphogenesis|apoptosis involved in development|morphogenetic apoptosis owl:Class MONDO:0002270 biolink:NamedThing viral gastritis Inflammation of the stomach resulting from viral infection. tmpak2llvmy_mondo_relaxed.owl Viruses gastritis (disease)|Viruses caused gastritis (disease)|viral gastritis ICD9:008.8|SCTID:285344007|NCIT:C27184|DOID:2327|UMLS:C0563238 owl:Class CHEBI:33780 biolink:NamedThing beryllium molecular entity tmpak2llvmy_mondo_relaxed.owl beryllium molecular entities|beryllium compounds owl:Class CHEBI:33299 biolink:NamedThing alkaline earth molecular entity An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal. tmpak2llvmy_mondo_relaxed.owl alkaline earth compounds|alkaline-earth compounds|alkaline earth molecular entity|alkaline earth molecular entities owl:Class MONDO:0014076 biolink:NamedThing dyskeratosis congenita, autosomal recessive 5 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. tmpak2llvmy_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 5|DKCB5|autosomal dominant dyskeratosis congenita 4|dyskeratosis congenita, autosomal recessive type 5|dyskeratosis congenita, autosomal dominant 4|DKCA4|autosomal recessive dyskeratosis congenita 5 UMLS:C3554656|DOID:0070022|OMIM:615190|DOID:0070020 owl:Class CHEBI:88188 biolink:NamedThing drug allergen Any drug which causes the onset of an allergic reaction. tmpak2llvmy_mondo_relaxed.owl allergenic drug owl:Class MONDO:0018857 biolink:NamedThing creeping myiasis tmpak2llvmy_mondo_relaxed.owl migratory myiasis MedDRA:10059547|UMLS:C1562462|SCTID:417441005|ICD10:B87.0|GARD:0001609|Orphanet:504 https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis owl:Class MONDO:0002741 biolink:NamedThing uterine ligament adenocarcinoma A rare adenocarcinoma that arises from the uterine ligament. tmpak2llvmy_mondo_relaxed.owl uterine ligament adenocarcinoma NCIT:C40135|DOID:3700|UMLS:C1519866 owl:Class MONDO:0016275 biolink:NamedThing adenocarcinoma of cervix uteri A adenocarcinoma that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervical adenocarcinoma|uterine cervix adenocarcinoma ICD10:C53.8|ICD10:C53.1|Orphanet:213772|ICD10:C53.0 owl:Class MONDO:0009015 biolink:NamedThing corneal dystrophy-perceptive deafness syndrome Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy and sensorineural deafness|CDPD|congenital corneal dystrophy, progressive sensorineural deafness|Harboyan syndrome|Cdpd1|corneal dystrophy and perceptive deafness|corneal dystrophy with progressive deafness Orphanet:1490|GARD:0001529|SCTID:720749004|MESH:C535473|ICD10:H18.5|OMIM:217400|DOID:0111620|UMLS:C1857572 owl:Class NCBITaxon:206351 biolink:NamedThing Neisseriales tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:23575986|PMID:16403855 ncbi_taxonomy owl:Class HGNC:2988 biolink:NamedThing DOCK2 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001008 biolink:NamedThing meteor A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003656 biolink:NamedThing hemoglobinuria A laboratory test result which indicates free hemoglobin in the urine. tmpak2llvmy_mondo_relaxed.owl MESH:D006456|ICD9:791.2|UMLS:C0019048|ICD10:R82.3|DOID:582 May be obsoleted as it represents a finding owl:Class MONDO:0003634 biolink:NamedThing proteinuria The presence of abnormal amounts of protein in the urine. tmpak2llvmy_mondo_relaxed.owl ICD10:R80|ICD10:R80.9|MESH:D011507|DOID:576|ICD9:791.0 Consider obsoleting / use HPO owl:Class MONDO:0016556 biolink:NamedThing transient congenital hypothyroidism due to neonatal factor tmpak2llvmy_mondo_relaxed.owl ICD10:P72.2|Orphanet:238699 owl:Class MONDO:0015792 biolink:NamedThing transient congenital hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. tmpak2llvmy_mondo_relaxed.owl THOP|transient hypothyroxinemia of prematurity|hypothyroxinemia of prematurity NCIT:C113171|UMLS:C3827793|SCTID:119181000119104|Orphanet:178045 owl:Class MONDO:0032829 biolink:NamedThing neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl NEDHIB|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES|neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities OMIM:618603 owl:Class HGNC:25567 biolink:NamedThing ATAD3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007415 biolink:NamedThing mitochondrial complex III deficiency nuclear type 1 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene. tmpak2llvmy_mondo_relaxed.owl Complex 3 mitochondrial respiratory chain deficiency|MC3DN1|mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in BCS1L|BCS1L mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 1|mitochondrial Complex 3 deficiency, nuclear type 1 MESH:C565128|DOID:0080111|GARD:0008295|OMIM:124000 https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency owl:Class MONDO:0014313 biolink:NamedThing autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|CD16 deficiency|IMD20|immunodeficiency type 20|immunodeficiency 20 Orphanet:437552|UMLS:C3810342|ICD10:D84.8|OMIM:615707 owl:Class MONDO:0009952 biolink:NamedThing radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). tmpak2llvmy_mondo_relaxed.owl der Kaloustian mcintosh silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|radioulnar synostosis with developmental delay and hypotonia syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia Orphanet:3270|ICD10:Q87.8|SCTID:721883006|MESH:C564856|OMIM:266255|MESH:C538217|GARD:0001810 https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome owl:Class MONDO:0017985 biolink:NamedThing congenital radioulnar synostosis Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. tmpak2llvmy_mondo_relaxed.owl radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radio-ulnar synostosis|radio-ulnar synostosis type 1|radioulnar synostosis|radioulnar fusion|radial-ulnar synostosis GARD:0010876|ICD10:Q74.0|ICD9:755.53|GARD:0004630|DOID:9827|Orphanet:3269|HP:0002974|OMIM:179300|MESH:C562408|SCTID:33313004 owl:Class MONDO:0001218 biolink:NamedThing acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. tmpak2llvmy_mondo_relaxed.owl ICD10:J06.0|UMLS:C0155817|DOID:11195|ICD9:465.0|SCTID:55355000 owl:Class MONDO:0004867 biolink:NamedThing upper respiratory tract disease A disease involving the upper respiratory tract. tmpak2llvmy_mondo_relaxed.owl upper respiratory tract disease or disorder|disorder of upper respiratory tract|upper respiratory tract disease|disease of upper respiratory tract|disease or disorder of upper respiratory tract ICD9:478.9|SCTID:201060008|DOID:974|ICD9:478.1|ICD9:478.19 owl:Class HP:0001231 biolink:NamedThing Abnormal fingernail morphology An abnormality of the fingernails. tmpak2llvmy_mondo_relaxed.owl Abnormality of the fingernails|Abnormal fingernails UMLS:C4021782 human_phenotype owl:Class HP:0001597 biolink:NamedThing Abnormality of the nail Abnormality of the nail. tmpak2llvmy_mondo_relaxed.owl Abnormality of the nail|Nail disease MSH:D009264|SNOMEDCT_US:17790008|UMLS:C0853087|UMLS:C0027339|MSH:D009260 Abnormality of the fingernails and/or toenails. human_phenotype owl:Class MONDO:0015018 biolink:NamedThing ichthyosis, congenital, autosomal recessive 12 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene. tmpak2llvmy_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 12|ichthyosis, congenital, autosomal recessive type 12|ARCI12|ichthyosis, congenital, autosomal recessive 12; ARCI12 OMIM:617320|UMLS:C4310621 owl:Class GO:2000844 biolink:NamedThing negative regulation of testosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032369 biolink:NamedThing negative regulation of lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down-regulation of lipid transport|downregulation of lipid transport|down regulation of lipid transport|inhibition of lipid transport owl:Class CHEBI:50325 biolink:NamedThing proteinogenic amino-acid side-chain group A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. tmpak2llvmy_mondo_relaxed.owl proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains|proteinogenic amino-acid side-chain|canonical amino-acid side-chains|canonical amino-acid side-chain owl:Class CHEBI:33249 biolink:NamedThing organyl group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. tmpak2llvmy_mondo_relaxed.owl organyl group|groupe organyle|grupo organilo|organyl groups|grupos organilo owl:Class NCBITaxon:11052 biolink:NamedThing Dengue virus group tmpak2llvmy_mondo_relaxed.owl Dengue viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002100 biolink:NamedThing cardiovascular cancer A primary or metastatic malignant neoplasm involving the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl malignant cardiovascular neoplasm|cancer of cardiovascular system|malignant cardiovascular system neoplasm|cardiovascular system cancer|cardiovascular tumors|malignant neoplasm of cardiovascular system|cardiovascular neoplasm UMLS:C3898472|DOID:176|UMLS:C0497243|NCIT:C114940 owl:Class MONDO:0024757 biolink:NamedThing cardiovascular neoplasm A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl cardiovascular neoplasm|cardiovascular tumor|cardiovascular system neoplasm|neoplasm of cardiovascular system|cardiovascular system tumor|tumor of cardiovascular system SCTID:721573003|NCIT:C4784 owl:Class MONDO:0100374 biolink:NamedThing acute myeloid leukemia, t(16;16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpak2llvmy_mondo_relaxed.owl AML, t(16;16)(p13.1;q22.1)|AML, t(16;16)(p13.1;q22)|AML, t(16;16)(p13;q22)|AML, t(16;16)(p13q22)|AML, t(16;16)(p13.1q22)|AML, t(16;16)(p13.1q22.1) NCIT:C9019 owl:Class MONDO:0011776 biolink:NamedThing CINCA syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. tmpak2llvmy_mondo_relaxed.owl NOMID|neonatal-onset multisystem inflammatory disease|Cryopyrin-associated periodic syndrome 3|neonatal onset multisystem inflammatory disease|infantile-onset multisystem inflammatory disease|CINCA syndrome|Prieur Griscelli syndrome|chronic infantile neurological cutaneous and articular syndrome|CINCA/NOMID|IOMID|CINCA|IOMID syndrome|multisystem inflammatory disease, neonatal-onset|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|infantile onset multisystem inflammatory disease|NOMID syndrome|Prieur-Griscelli syndrome|chronic infantile neurological cutaneous articular syndrome NCIT:C116380|DOID:0090029|OMIM:607115|ICD10:E85.0|GARD:0001356|ICD9:759.89|Orphanet:1451|SCTID:239826001 owl:Class MONDO:0016168 biolink:NamedThing cryopyrin-associated periodic syndrome Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). tmpak2llvmy_mondo_relaxed.owl Cryopyrinopathy|caps MESH:D056587|NCIT:C84657|ICD10:E85.0|ICD9:759.89|Orphanet:208650|GARD:0010927|MedDRA:10068850|SCTID:430079001|UMLS:C2316212 owl:Class MONDO:0005974 biolink:NamedThing strongyloidiasis An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. tmpak2llvmy_mondo_relaxed.owl infection by Strongyloides|Anguilluliasis|Anguillulosis|disseminated strongyloidiasis SCTID:187176005|UMLS:C0038463|ICD10:B78.7|Orphanet:76|UMLS:C0348996|ICD10:B78.1|ICD10:B78.0|ICD9:127.2|MedDRA:10042254|DOID:10955|ICD10:B78|GARD:0008195|EFO:0007501|MESH:D013322|NCIT:C128398|UMLS:C0085810|ICD10:B78.9 owl:Class UBERON:0005257 biolink:NamedThing manual digit mesenchyme Mesenchyme that is part of a developing finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anterior limb digital ray mesenchyme|manual digital ray mesenchyme|fore limb digit mesenchyme|finger ray mesenchyme|hand digit mesenchyme|finger mesenchyme owl:Class MONDO:0017875 biolink:NamedThing Bolivian hemorrhagic fever Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. tmpak2llvmy_mondo_relaxed.owl Machupo hemorrhagic fever Orphanet:319229|SCTID:67247008|DOID:0050195|MedDRA:10005932|UMLS:C0282192|ICD10:A96.1 owl:Class MONDO:0005651 biolink:NamedThing arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. tmpak2llvmy_mondo_relaxed.owl arenaviral hemorrhagic fever SCTID:73730005|EFO:0007151|ICD9:078.7|UMLS:C0153112 MONDO:0024384 owl:Class CL:0000680 biolink:NamedThing muscle precursor cell A non-terminally differentiated cell that is capable of developing into a muscle cell. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0017922 biolink:NamedThing deafness-onychodystrophy syndrome Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN204041|Orphanet:3231 owl:Class MONDO:0006626 biolink:NamedThing diabetic neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. tmpak2llvmy_mondo_relaxed.owl ICD9:250.6|DOID:9743|SCTID:230572002|EFO:1000783|UMLS:C0011882|NCIT:C26748|MESH:D003929 owl:Class UBERON:0010199 biolink:NamedThing bona-fide anatomical boundary An anatomical boundary that corresponds to some physical discontinuity. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000466 biolink:NamedThing immaterial anatomical entity Anatomical entity that has no mass. tmpak2llvmy_mondo_relaxed.owl immaterial physical anatomical entity owl:Class MONDO:0100194 biolink:NamedThing pregnancy associated osteoporosis A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. tmpak2llvmy_mondo_relaxed.owl pregnancy and lactation-associated osteoporosis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017058 biolink:NamedThing autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. tmpak2llvmy_mondo_relaxed.owl intermediate Charcot-Marie-Tooth disease, autosomal recessive|RI-CMT|autosomal recessive intermediate Charcot-Marie-Tooth disease GARD:0012452|UMLS:CN202416|ICD10:G60.0|Orphanet:268337 https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease owl:Class MONDO:0010735 biolink:NamedThing Kennedy disease Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. tmpak2llvmy_mondo_relaxed.owl SMAX1|bulbospinal muscular atrophy, X-linked|Kennedy disease|X-linked spinal and bulbar muscular atrophy|spinal and bulbar muscular atrophy, X-linked 1|spinal and bulbar muscular atrophy|X-linked bulbospinal muscular atrophy|X-linked bulbospinal amyotrophy|SBMA|bulbospinal neuronopathy, X-linked recessive|spinal bulbar muscular atrophy|spinal and bulbar muscular atrophy, X-linked type 1|Kennedy's disease|spinobulbar muscular atrophy|Kennedy spinal and bulbar muscular atrophy|X-linked BSMA|X-linked bulbo-spinal atrophy GARD:0006818|ICD10:G12.2|UMLS:C1839259|DOID:0060161|MedDRA:10068600|Orphanet:481|MESH:D055534|NCIT:C85233|OMIM:313200 owl:Class PR:000001971 biolink:NamedThing vascular endothelial growth factor receptor tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004734 biolink:NamedThing gastrula Organism at the gastrula stage. tmpak2llvmy_mondo_relaxed.owl trilaminar germ|tri-laminar disk|trilaminar disc|gastrula embryo|tri-laminar disc|trilaminar disk|trilaminar blastocyst|blastocystis trilaminaris|trilaminar blastoderm owl:Class MONDO:0018146 biolink:NamedThing idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. tmpak2llvmy_mondo_relaxed.owl visible and exudative idiopathic juxtafoveolar retinal telangiectasis|aneurysmal telangiectasia UMLS:CN204544|Orphanet:353344|ICD10:H35.5 owl:Class UBERON:0005343 biolink:NamedThing cortical plate The outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers[MP]. tmpak2llvmy_mondo_relaxed.owl future neocortex|future cortical layers II-VI|neocortex cortical plate|cerebral cortex cortical plate|CP|CxP owl:Class CL:0002537 biolink:NamedThing amnion mesenchymal stem cell A mesenchymal stem cell of the amnion membrane. tmpak2llvmy_mondo_relaxed.owl amniotic membrane stem cell tmeehan 2011-02-28T12:44:24Z cell owl:Class MONDO:0006973 biolink:NamedThing skin appendage carcinoma A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma, adnexal, malignant|cutaneous appendage carcinoma|adnexal carcinoma|carcinoma of cutaneous appendage|carcinoma of skin appendage|carcinoma of adnexa|skin appendage carcinoma|skin adnexal carcinoma MESH:D018280|EFO:1001183|ICDO:8390/3|MedDRA:10040798|ONCOTREE:SKAC|UMLS:C0206697|NCIT:C3775 owl:Class MONDO:0002656 biolink:NamedThing skin carcinoma A carcinoma that arises from epithelial cells of the zone of skin tmpak2llvmy_mondo_relaxed.owl skin carcinoma|non-melanoma skin cancer|non-melanoma cancer of skin|non-melanoma cancer of the skin|carcinoma of skin|nonmelanoma skin cancer|carcinoma of zone of skin|zone of skin carcinoma|skin cancer, non-melanoma|carcinoma of the skin UMLS:C0699893|NCIT:C4914|DOID:3451 owl:Class MONDO:0008538 biolink:NamedThing temporal arteritis Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. tmpak2llvmy_mondo_relaxed.owl Horton disease|Horton’s syndrome|temporal arteritis|polymyalgia rheumatica|inflammation of temporal artery|Horton's disease|GCA|arteritis cranialis|arteritis temporalis|Horton’s disease|Horton's temporal arteritis|Horton's arteritis|giant cell arteritis|temporal artery inflammation|Horton's giant cell arteritis|cranial arteritis NCIT:C35065|OMIM:187360|UMLS:C1956391|EFO:1001209|GARD:0009615|MedDRA:10043207|DOID:13375|Orphanet:397|ICD10:M31.6|SCTID:400130008|ICD9:446.5|MedDRA:10018250 owl:Class HGNC:4331 biolink:NamedThing GLS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013010 biolink:NamedThing autosomal recessive nonsyndromic deafness 71 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. tmpak2llvmy_mondo_relaxed.owl DFNB71|autosomal recessive nonsyndromic deafness type 71|autosomal recessive deafness 71|deafness, autosomal recessive 71 UMLS:C2748554|ICD10:H90.3|OMIM:612789|MESH:C567562|DOID:0110522 owl:Class UBERON:0012418 biolink:NamedThing respiratory system venous smooth muscle A smooth muscle tissue that is part of a respiratory system venous blood vessel. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016524 biolink:NamedThing congenital vascular bone syndrome An alteration in limb growth caused by congenital vascular malformations in childhood tmpak2llvmy_mondo_relaxed.owl Orphanet:235832 Editor note: see https://github.com/monarch-initiative/mondo/issues/114 owl:Class MONDO:0016049 biolink:NamedThing congenital myopathy, Paradas type Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. tmpak2llvmy_mondo_relaxed.owl Orphanet:199329|ICD10:G71.2 owl:Class UBERON:0004990 biolink:NamedThing mucosa of ascending colon A mucosa that is part of an ascending colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ascending colon organ mucosa|ascending colon mucosa of organ|ascending colon mucosa|organ mucosa of ascending colon|mucous membrane of ascending colon|ascending colon mucous membrane|mucosa of organ of ascending colon owl:Class MONDO:0004903 biolink:NamedThing deep keratitis tmpak2llvmy_mondo_relaxed.owl ICD10:H16.3|ICD9:370.59|UMLS:C2960633|ICD9:370.5|DOID:9858|SCTID:445741003 owl:Class UBERON:0005282 biolink:NamedThing ventricular system of brain tmpak2llvmy_mondo_relaxed.owl brain ventricular system owl:Class MONDO:0001875 biolink:NamedThing epicondylitis Inflammation of the lateral epicondyle. tmpak2llvmy_mondo_relaxed.owl andrel epicondylitis|inflammation of ectepicondyle of humerus|archer's elbow|hockey elbow|ectepicondyle of humerus inflammation|lateral epicondylitis|tennis elbow|shooter's elbow|golfer's elbow|medial epicondylitis NCIT:C34589|UMLS:C0014488|ICD10:M77.1|ICD9:726.32|DOID:14087|SCTID:202855006|MESH:D013716 owl:Class MONDO:0016742 biolink:NamedThing mixed germ cell tumor of central nervous system A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia. tmpak2llvmy_mondo_relaxed.owl central nervous system mixed germ cell tumor|CNS mixed germ cell tumor|mixed germ cell tumor of the central nervous system|mixed germ cell tumor of CNS|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of the CNS NCIT:C7016|Orphanet:252021|UMLS:C1334785|UMLS:CN201989 owl:Class MONDO:0000524 biolink:NamedThing mixed extragonadal germ cell cancer A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle. tmpak2llvmy_mondo_relaxed.owl DOID:0050907 owl:Class UBERON:0002925 biolink:NamedThing trigeminal nucleus A nucleus of brain that is part of a trigeminal nuclear complex. tmpak2llvmy_mondo_relaxed.owl trigeminal V nucleus|trigeminal nucleus|nucleus of trigeminal nuclear complex|nucleus tractus mesencephali nervi trigeminalis|nucleus mesencephalicus nervi trigemini|trigeminal nuclear complex nucleus|nucleus mesencephalicus trigeminalis owl:Class UBERON:0002308 biolink:NamedThing nucleus of brain A neural nucleus that is part of the brain. tmpak2llvmy_mondo_relaxed.owl brain nucleus|brain nuclei owl:Class UBERON:0009482 biolink:NamedThing associated mesenchyme of foregut-midgut junction Mesenchyme that is part of a foregut-midgut junction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016298 biolink:NamedThing postlingual non-syndromic genetic deafness Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. tmpak2llvmy_mondo_relaxed.owl isolated postlingual genetic deafness Orphanet:216452|SCTID:764097002 owl:Class MONDO:0019497 biolink:NamedThing nonsyndromic genetic deafness A disease characterized by hearing loss that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl familial deafness|non-syndromic genetic deafness|nonsyndromic hearing loss|isolated genetic deafness|nonsyndromic hereditary hearing loss|nonsyndromic deafness|nonsyndromic genetic deafness EFO:0009076|DOID:0050563|UMLS:CN043648|GARD:0006410|Orphanet:87884|MESH:C580334|ICD10:H90.5 https://rarediseases.info.nih.gov/diseases/6410/familial-deafness owl:Class HP:0000951 biolink:NamedThing Abnormality of the skin An abnormality of the skin. tmpak2llvmy_mondo_relaxed.owl Skin abnormality|Abnormality of the skin|dermatopathy|dermopathy UMLS:C0037268|UMLS:C0037274|SNOMEDCT_US:95320005|SNOMEDCT_US:199879009|MSH:D012871|MSH:D012868 HP:0007415|HP:0007580|HP:0006736|HP:0001479|HP:0001478|HP:0005591 human_phenotype owl:Class MONDO:0013047 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase M-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern. tmpak2llvmy_mondo_relaxed.owl lactate dehydrogenase deficiency type A|lactate dehydrogenase A deficiency|glycogen storage disease caused by mutation in LDHA|LDHA glycogen storage disease|GSD XI|GSD type 11|GSD due to lactate dehydrogenase M-subunit deficiency|GSD 11|GSD11|glycogen storage disease type 11|glycogenosis type 11|glycogenosis due to lactate dehydrogenase M-subunit deficiency|glycogen storage disease XI|LDH-M subunit deficiency MESH:C538133|ICD9:271.8|Orphanet:284426|HGNC:6535|ICD10:E74.0|OMIM:612933|GARD:0003160|SCTID:237982007 https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency owl:Class CHEBI:37622 biolink:NamedThing carboxamide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. tmpak2llvmy_mondo_relaxed.owl primary carboxamide|carboxamides owl:Class MONDO:0001797 biolink:NamedThing chancroid Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. tmpak2llvmy_mondo_relaxed.owl Ulcus molle, skin|Chancroids GARD:0009522|UMLS:C0007947|ICD10:A57|MESH:D002602|DOID:13778|ICD9:099.0|SCTID:266143009 https://rarediseases.info.nih.gov/diseases/9522/chancroid owl:Class MONDO:0044701 biolink:NamedThing childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder tmpak2llvmy_mondo_relaxed.owl neurodegeneration, childhood-onset, with brain atrophy|UBTF-related disorder|CONDBA OMIM:617672|Orphanet:500180|UMLS:CN469330 owl:Class UBERON:0005487 biolink:NamedThing vitelline vein the paired veins that carry blood from the yolk sac back to the embryo tmpak2llvmy_mondo_relaxed.owl vena vitellina|vascular vitelline network|vitelline veins|omphalomesenteric vein|embryonic vitelline vein|vein of omphalomesenteric system owl:Class UBERON:0013140 biolink:NamedThing systemic vein Any vein within the general circulation that transports blood back to the right atrium of the heart. tmpak2llvmy_mondo_relaxed.owl systemic venous tree organ part owl:Class MONDO:0002472 biolink:NamedThing carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. tmpak2llvmy_mondo_relaxed.owl carcinoma in pleomorphic adenoma|carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma (morphologic abnormality) ICDO:8941/3|UMLS:C0344460|NCIT:C4397 owl:Class MONDO:0019482 biolink:NamedThing dendritic cell sarcoma not otherwise specified tmpak2llvmy_mondo_relaxed.owl Orphanet:86903|ICD10:C96.4 owl:Class MONDO:0020082 biolink:NamedThing dendritic cell tumor A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. tmpak2llvmy_mondo_relaxed.owl Dendritic cell tumor, Not otherwise specified|Dendritic cell sarcoma, Not otherwise specified|Dendritic cell neoplasm|Dendritic cell sarcoma, NOS|Dendritic cell tumor, NOS GARD:0008317|ICD10:C96.4|UMLS:CN206984|SCTID:737223000|Orphanet:98289 https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor owl:Class MONDO:0008523 biolink:NamedThing Blau syndrome Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. tmpak2llvmy_mondo_relaxed.owl arthrocutaneouveal granulomatosis|synovitis, granulomatous, with uveitis and cranial neuropathies|early-onset sarcoidosis|EOS|granulomatosis, familial, Blau type|Blau syndrome|Jabs syndrome|pediatric granulomatous arthritis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|sarcoidosis, early-onset|synovitis granulomatous with uveitis and cranial neuropathies|granulomatosis, familial juvenile systemic|ACUG|BLAUS UMLS:C1861303|MESH:C538157|Orphanet:90341|ICD9:714.89|GARD:0000304|OMIM:609464|OMIM:186580|ICD9:692.9|DOID:0050678|UMLS:C1836122|Orphanet:90340|NCIT:C116794|MedDRA:10071755|SCTID:699861000 https://rarediseases.info.nih.gov/diseases/304/blau-syndrome owl:Class MONDO:0001708 biolink:NamedThing pulmonary sarcoidosis Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. tmpak2llvmy_mondo_relaxed.owl sarcoidosis of lung|lung sarcoidosis ICD9:517.8|UMLS:C0036205|SCTID:24369008|DOID:13406|NCIT:C34997|ICD10:D86.0|MESH:D017565 owl:Class MONDO:0060712 biolink:NamedThing developmental delay, intellectual disability, obesity, and dysmorphic features tmpak2llvmy_mondo_relaxed.owl developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features|DIDOD UMLS:CN248510|OMIM:617991 owl:Class MONDO:0000654 biolink:NamedThing benign connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. tmpak2llvmy_mondo_relaxed.owl benign connective and soft tissue neoplasm|benign neoplasm of the soft tissue and bone|soft tissue benign neoplasm|neoplasm of soft tissue|benign connective and soft tissue tumor|connective and soft tissue neoplasm, benign|tumor of the soft tissue|neoplasm of soft tissues|benign tumor of the soft tissue and bone|connective tissue benign neoplasm|benign mesenchymal cell neoplasm NCIT:C53684|DOID:0060123 owl:Class GO:0071482 biolink:NamedThing cellular response to light stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071478 biolink:NamedThing cellular response to radiation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpak2llvmy_mondo_relaxed.owl cellular response to radiation stimulus|cellular response to electromagnetic radiation stimulus owl:Class MONDO:0043237 biolink:NamedThing glossodynia Painful sensations in the tongue, including a sensation of burning. tmpak2llvmy_mondo_relaxed.owl glossopyrosis|soreness of tongue|Glossodynias|glossalgia|painful tongue|Glossalgias|Glossopyroses|glossodynia SCTID:30731004|GARD:0006518|MESH:D005926 owl:Class UBERON:0007098 biolink:NamedThing mandibular neural crest Cranial neural crest that migrates into the mandibular arch. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003099 biolink:NamedThing cranial neural crest neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. tmpak2llvmy_mondo_relaxed.owl head crest|crista neuralis cranialis|cephalic neural crest|head neural crest|head NCC population|cranial NCC population|CNC owl:Class MONDO:0002678 biolink:NamedThing pediatric fibrosarcoma A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl childhood fibrosarcoma|pediatric fibrosarcoma|fibrosarcoma UMLS:C0279981|DOID:3520|NCIT:C8088 owl:Class MONDO:0005258 biolink:NamedThing autism spectrum disorder A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. tmpak2llvmy_mondo_relaxed.owl autism spectrum disorder|autistic spectrum disorder|PDD|pervasive developmental disorder - not otherwise specified|pervasive developmental disorders|atypical autism EFO:0003759|DOID:0060041|SCTID:408856003|EFO:0003756|NCIT:C88412 owl:Class MONDO:0000594 biolink:NamedThing pervasive developmental disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. tmpak2llvmy_mondo_relaxed.owl pervasive development disorder|pervasive development disorders|pervasive child development disorders NCIT:C97179|ICD9:299.80|DOID:0060040|SCTID:35919005|MESH:D002659 owl:Class NCBITaxon:9989 biolink:NamedThing Rodentia tmpak2llvmy_mondo_relaxed.owl rodents|rodent GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:314147 biolink:NamedThing Glires tmpak2llvmy_mondo_relaxed.owl Rodents and rabbits GC_ID:1|PMID:11214319|PMID:15522813|PMID:12082125 ncbi_taxonomy owl:Class UBERON:0018112 biolink:NamedThing rectum smooth muscle tissue Any portion of smooth muscle tissue that is part of the rectum tmpak2llvmy_mondo_relaxed.owl smooth muscle of rectum|rectum smooth muscle|rectal smooth muscle tissue owl:Class GO:1900047 biolink:NamedThing negative regulation of hemostasis Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. tmpak2llvmy_mondo_relaxed.owl down regulation of hemostasis|inhibition of hemostasis|downregulation of hemostasis|down-regulation of hemostasis owl:Class MONDO:0011937 biolink:NamedThing peeling skin syndrome 4 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. tmpak2llvmy_mondo_relaxed.owl peeling skin syndrome type 4|CSTA peeling skin syndrome|ichthyosis, exfoliative, autosomal recessive|ichthyosis bullosa of Siemens-like|peeling skin syndrome 4|peeling skin syndrome caused by mutation in CSTA|PSS4 OMIM:607936|MESH:C564309|UMLS:C4225407|UMLS:C1842797 owl:Class MONDO:0017339 biolink:NamedThing exfoliative ichthyosis Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. tmpak2llvmy_mondo_relaxed.owl ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis|exfoliative ichthyosis UMLS:C1838440|ICD10:Q80.8|Orphanet:289586 owl:Class MONDO:0031010 biolink:NamedThing odontochondrodysplasia 2 with hearing loss and diabetes tmpak2llvmy_mondo_relaxed.owl ODCD2 OMIM:619269 owl:Class ENVO:01000295 biolink:NamedThing marine layer A layer that is part of a marine water body. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000325 biolink:NamedThing aquatic layer A layer in a water mass, itself composed primarily of water. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0036477 biolink:NamedThing somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014624 biolink:NamedThing Brown syndrome Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. tmpak2llvmy_mondo_relaxed.owl Brown's (tendon) sheath syndrome|BRWNS|Brown's sheath syndrome|Brown syndrome|Brown tendon sheath syndrome|superior oblique tendon sheath syndrome|tendon sheath adherence, Superior oblique|Brown's tendon sheath syndrome UMLS:C0155339|DOID:10235|SCTID:35929003|ICD9:378.61|GARD:0005963|ICD10:H50.61|OMIM:616407 owl:Class MONDO:0000462 biolink:NamedThing eye adnexa disease A disease involving the ocular adnexa. tmpak2llvmy_mondo_relaxed.owl ocular adnexa disease or disorder|disease of ocular adnexa|disorder of ocular adnexa|disease or disorder of ocular adnexa|ocular adnexa disease UMLS:C1290855|SCTID:118941004|ICD10:H00.H06|DOID:0050815 owl:Class HP:0100533 biolink:NamedThing Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. tmpak2llvmy_mondo_relaxed.owl Inflammatory abnormality of the eye|Ocular inflammation UMLS:C4020969 doelkens 2010-12-20T03:53:42Z HP:0007891 human_phenotype owl:Class MONDO:0015782 biolink:NamedThing dysmorphism-cleft palate-loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. tmpak2llvmy_mondo_relaxed.owl Orphanet:1779|UMLS:CN200364 owl:Class UBERON:0016405 biolink:NamedThing pulmonary capillary A capillary that is part of a lung. tmpak2llvmy_mondo_relaxed.owl capillary of lung owl:Class UBERON:0001982 biolink:NamedThing capillary Any of the smallest blood vessels connecting arterioles with venules. tmpak2llvmy_mondo_relaxed.owl blood capillary|capillary vessel owl:Class NCBITaxon:36362 biolink:NamedThing Polyomavirus sp. tmpak2llvmy_mondo_relaxed.owl Polyomaviruses|Polyomavirus GC_ID:1 NCBITaxon:10624 ncbi_taxonomy owl:Class MONDO:0013203 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 3 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene. tmpak2llvmy_mondo_relaxed.owl TCF4 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, type 3|corneal dystrophy, Fuchs endothelial, late-onset|Fuchs' endothelial dystrophy caused by mutation in TCF4|FECD3|corneal dystrophy, Fuchs endothelial, 3|Fcd2 locus UMLS:C2750451|OMIM:613267 owl:Class MONDO:0003517 biolink:NamedThing mature teratoma A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpak2llvmy_mondo_relaxed.owl mature teratoma ICDO:9080/0|SCTID:254875009|ONCOTREE:VMT|UMLS:C1368910|DOID:5566|NCIT:C9015 owl:Class MONDO:0020022 biolink:NamedThing central nervous system malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98044|MESH:D009421 owl:Class HGNC:6144 biolink:NamedThing ITGA8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0034204 biolink:NamedThing syndromic congenital sodium diarrhea tmpak2llvmy_mondo_relaxed.owl Orphanet:563708 owl:Class MONDO:0003909 biolink:NamedThing Bartholin gland adenomyoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. tmpak2llvmy_mondo_relaxed.owl Bartholin gland adenomyoma|adenomyoma of major vestibular gland|major vestibular gland adenomyoma UMLS:C1511049|DOID:6518|NCIT:C40300 owl:Class MONDO:0017437 biolink:NamedThing amelia of upper limb A non-syndromic amelia that involves the forelimb. tmpak2llvmy_mondo_relaxed.owl forelimb non-syndromic amelia|non-syndromic amelia of forelimb ICD10:Q71.0|HP:0009812|SCTID:205306000|Orphanet:294967 owl:Class MONDO:0009785 biolink:NamedThing opsismodysplasia Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl opsismodysplasia|OPSISMODYSPLASIA|OPSMD MESH:C537122|GARD:0004098|UMLS:C0432219|SCTID:254068007|Orphanet:2746|ICD10:Q78.8|OMIM:258480 https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia owl:Class ECTO:9001699 biolink:NamedThing exposure to fuel An exposure to fuel. tmpak2llvmy_mondo_relaxed.owl exposure to fuel owl:Class MONDO:0022551 biolink:NamedThing Basedow's coma A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. tmpak2llvmy_mondo_relaxed.owl Coma basedovicum|Karl Adolph von Basedow GARD:0008177 https://rarediseases.info.nih.gov/diseases/8177/basedows-coma owl:Class MONDO:0022020 biolink:NamedThing Boudhina Yedes Khiari syndrome Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions tmpak2llvmy_mondo_relaxed.owl GARD:0000945|UMLS:C2931668|MESH:C537939 https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome owl:Class OBO:CHR_9606-chr3p25 biolink:NamedThing chr3p25 (Human) tmpak2llvmy_mondo_relaxed.owl 16300000 8100000 hg38 owl:Class UBERON:0012358 biolink:NamedThing manual digitopodium bone A bone that is part of a the manual digitopodium skeleton - i.e. the fingers or the metacarpal skeleton. tmpak2llvmy_mondo_relaxed.owl bone of forelimb digitopodium owl:Class UBERON:0012357 biolink:NamedThing digitopodium bone A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. tmpak2llvmy_mondo_relaxed.owl digit bone owl:Class UBERON:0004084 biolink:NamedThing genital labium One of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening. tmpak2llvmy_mondo_relaxed.owl labia|genital labia|labium owl:Class MONDO:0011214 biolink:NamedThing progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. tmpak2llvmy_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|Mdr3 deficiency|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|ABCB4 progressive familial intrahepatic cholestasis|PFIC3|cholestasis, progressive familial intrahepatic, 3|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|cholestasis, progressive familial intrahepatic, type 3 Orphanet:79305|MESH:C535935|GARD:0001289|UMLS:C1865643|ICD10:K76.8|DOID:0070223|OMIM:602347 https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 owl:Class MONDO:0006804 biolink:NamedThing inflammatory breast carcinoma An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. tmpak2llvmy_mondo_relaxed.owl breast cancer, inflammatory|IBC|inflammatory carcinoma of breast|inflammatory breast carcinoma|inflammatory carcinoma of the breast|inflammatory breast cancer|mastitis Carcinomatosa|mastitis carcinomatosa SCTID:254840009|GARD:0006784|ONCOTREE:IBC|DOID:6263|NCIT:C4001|ICDO:8530/3|EFO:1000984|MedDRA:10006205|MESH:D058922|UMLS:C0278601 owl:Class MONDO:0100304 biolink:NamedThing disorder of bile acid aminotransferase Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase. tmpak2llvmy_mondo_relaxed.owl disorder of bile acid aminotransferase http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0015757 biolink:NamedThing heterogeneous tissue tmpak2llvmy_mondo_relaxed.owl portion of heterogeneous tissue owl:Class GO:0008285 biolink:NamedThing negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. tmpak2llvmy_mondo_relaxed.owl down-regulation of cell proliferation|down regulation of cell proliferation|downregulation of cell proliferation|negative regulation of cell proliferation|inhibition of cell proliferation owl:Class MONDO:0013421 biolink:NamedThing type II complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene. tmpak2llvmy_mondo_relaxed.owl classic complement early component deficiency caused by mutation in C8B|complement component 8 deficiency type 2|C8B classic complement early component deficiency|Human complement C8-beta deficiency|complement component 8 deficiency, type II|C8 deficiency type II|complement component 8B deficiency|C8 Beta deficiency|C8 deficiency, type 2|complement component 8 deficiency, type 2|complement component 8 deficiency type II|C8B deficiency|C8D2 OMIM:613789|ICD10:D84.1|HGNC:1353|GARD:0010625|DOID:0060302|UMLS:C3151080 https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2 owl:Class MONDO:0015700 biolink:NamedThing immunodeficiency due to a late component of complement deficiency A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. tmpak2llvmy_mondo_relaxed.owl deficiency of complement of terminal pathway|immunodeficiency due to C5 to C9 component complement deficiency|immunodeficiency due to a C5 to C9 component complement deficiency|terminal complement pathway deficiency Orphanet:169150|ICD10:D84.1 owl:Class MONDO:0019134 biolink:NamedThing central neurocytoma Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. tmpak2llvmy_mondo_relaxed.owl CNC|Neurolipocytoma|central neurocytoma (WHO grade II) EFO:1000856|DOID:14174|NCIT:C3791|Orphanet:73256|ICDO:9506/1|MESH:D018306|ONCOTREE:CNC|UMLS:C0206719|GARD:0010641 https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma owl:Class MONDO:0016729 biolink:NamedThing mixed neuronal-glial tumor A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl neuronal and Glio-neuronal tumor|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor|neuronal and mixed neuronal-glial tumors Orphanet:251934|UMLS:C0474844|UMLS:CN201977|NCIT:C4747 owl:Class CL:1001431 biolink:NamedThing kidney collecting duct principal cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001128 cell owl:Class CL:1000454 biolink:NamedThing kidney collecting duct epithelial cell An epithelial cell that is part of the collecting duct of renal tubule. tmpak2llvmy_mondo_relaxed.owl epithelial cell of renal collecting tubule FMA:70982|KUPO:0001059 cell owl:Class MONDO:0001050 biolink:NamedThing malignant otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. tmpak2llvmy_mondo_relaxed.owl DOID:10516|SCTID:94146005|ICD10:H60.2|ICD9:380.14|UMLS:C0155395|ICD10:H60.20 owl:Class MONDO:0004795 biolink:NamedThing otitis externa Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. tmpak2llvmy_mondo_relaxed.owl swimmer's Ear|infectious otitis externa|outer Ear infection|otitis externa|swimmer's ear|external Ear infection ICD9:380.10|SCTID:3135009|DOID:9463|NCIT:C3299|MESH:D010032|ICD9:380.1|ICD10:H60 owl:Class MONDO:0002616 biolink:NamedThing mesenchymal cell neoplasm A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. tmpak2llvmy_mondo_relaxed.owl mesenchymal neoplasm|benign miscellaneous mesenchymal tumor|mesenchymal tumor|mesenchymal cell neoplasm|mesenchymal cell tumor NCIT:C7059|DOID:3350|UMLS:C1334699 owl:Class GO:0007288 biolink:NamedThing sperm axoneme assembly The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035082 biolink:NamedThing axoneme assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. tmpak2llvmy_mondo_relaxed.owl cilium axoneme biogenesis|axoneme biogenesis|flagellar axoneme assembly|cilium axoneme assembly|ciliary axoneme assembly|flagellum axoneme assembly owl:Class GO:0018271 biolink:NamedThing biotin-protein ligase activity Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. tmpak2llvmy_mondo_relaxed.owl biotin-apoprotein ligase activity owl:Class GO:0140096 biolink:NamedThing catalytic activity, acting on a protein Catalytic activity that acts to modify a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024290 biolink:NamedThing enuresis An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). tmpak2llvmy_mondo_relaxed.owl enuresis NCIT:C34588|UMLS:C0014394|MESH:D004775 owl:Class UBERON:0011974 biolink:NamedThing epiphysis of proximal phalanx of pes An epiphysis that is part of a proximal phalanx of pes. tmpak2llvmy_mondo_relaxed.owl epiphysis of proximal phalanx of toe owl:Class MONDO:0003558 biolink:NamedThing adenosquamous prostate carcinoma An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. tmpak2llvmy_mondo_relaxed.owl adenosquamous carcinoma of the prostate|prostate gland adenosquamous carcinoma|adenosquamous carcinoma of prostate|prostate adenosquamous carcinoma DOID:5634|UMLS:C1335503|NCIT:C5538 owl:Class MONDO:0012221 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. tmpak2llvmy_mondo_relaxed.owl alpha-N-acetylgalactosaminidase deficiency, type 1|NAGA deficiency, type 1|Schindler disease type I|neuroaxonal dystrophy, Schindler type|Alpha-N-acetylgalactosaminidase deficiency, type 1|Schindler disease type 1|Schindler disease, type I|NAGA deficiency, type 3|Schindler disease, type 1|Schindler disease, type 3|N-acetyl-alpha-D-galactosaminidase deficiency type III|Alpha-N-acetylgalactosaminidase deficiency, type 3|NAGA deficiency type 1 ICD10:E77.1|OMIM:609241|GARD:0003903|Orphanet:79279|GARD:0000116 owl:Class MONDO:0011692 biolink:NamedThing basal ganglia calcification, idiopathic, 2 tmpak2llvmy_mondo_relaxed.owl basal ganglia calcification, idiopathic, 2|IBGC2 MESH:C537657|OMIM:606656|UMLS:C1847731 owl:Class MONDO:0013538 biolink:NamedThing alpha-2-macroglobulin deficiency tmpak2llvmy_mondo_relaxed.owl alpha-2-macroglobulin deficiency|ALPHA-2-macroglobulin deficiency|A2MD MESH:C566304|OMIM:614036|UMLS:C3279661 owl:Class UBERON:0000965 biolink:NamedThing lens of camera-type eye Transparent part of camera-type eye that helps to refract light to be focused on the retina. tmpak2llvmy_mondo_relaxed.owl lens crystallina|ocular lens|lens|eye lens|crystalline lens|camera-type eye lens|lenses owl:Class UBERON:0005389 biolink:NamedThing transparent eye structure A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. tmpak2llvmy_mondo_relaxed.owl lens owl:Class OBO:CHR_9606-chr16p11.2 biolink:NamedThing chr16p11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 35300000 28500000 hg38 owl:Class MONDO:0010143 biolink:NamedThing lethal restrictive dermopathy Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. tmpak2llvmy_mondo_relaxed.owl restrictive dermopathy, lethal|tight skin contracture syndrome, lethal|hyperkeratosis-contracture syndrome|fetal hypokinesia sequence due to restrictive dermopathy|lethal restrictive dermopathy|restrictive dermopathy|tight skin contracture syndrome MESH:C536920|UMLS:C0406585|DOID:0060762|SCTID:400128006|Orphanet:1662|GARD:0001516|ICD10:Q82.8|OMIM:275210 owl:Class MONDO:0032857 biolink:NamedThing diarrhea 11, malabsorptive, congenital tmpak2llvmy_mondo_relaxed.owl Intractable Diarrhea of Infancy Syndrome|DIARRHEA 11, MALABSORPTIVE, CONGENITAL|DIAR11 OMIM:618662 owl:Class HGNC:11110 biolink:NamedThing ARID1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017601 biolink:NamedThing diffuse large B-cell lymphoma with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. tmpak2llvmy_mondo_relaxed.owl DLBCL with chronic inflammation ICD10:C83.3|Orphanet:300888 owl:Class GO:0002711 biolink:NamedThing positive regulation of T cell mediated immunity Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl positive regulation of T lymphocyte mediated immunity|positive regulation of T-lymphocyte mediated immunity|up-regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|upregulation of T cell mediated immunity|activation of T cell mediated immunity|stimulation of T cell mediated immunity|up regulation of T cell mediated immunity owl:Class MONDO:0020044 biolink:NamedThing autosomal recessive metabolic cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl Orphanet:98096|UMLS:CN229258 owl:Class CL:0011026 biolink:NamedThing progenitor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007920 biolink:NamedThing lymphatic malformation 5 A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. tmpak2llvmy_mondo_relaxed.owl late-onset lymphedema|hereditary lymphedema type II|Meige disease|LMPH2|lymphedema hereditary type 2|lymphedema praecox|late-onset primary lymphedema|Meige lymphedema|lymphedema, late-onset|lymphedema, hereditary, II|lymphedema preacox ICD10:Q82.0|Orphanet:90186|OMIM:153200|MedDRA:10027138|MESH:C562467|DOID:0070213|GARD:0003324|GARD:3324|SCTID:400040008 owl:Class MONDO:0017892 biolink:NamedThing autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. tmpak2llvmy_mondo_relaxed.owl SYNE1-related arthrogryposis multiplex congenita|SYNE1-related AMC|autosomal recessive myogenic AMC ICD10:Q74.3|UMLS:CN203942|Orphanet:319332|SCTID:764812008 owl:Class GO:0001942 biolink:NamedThing hair follicle development The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022405 biolink:NamedThing hair cycle process A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041850 biolink:NamedThing pneumonia caused by gram negative bacteria tmpak2llvmy_mondo_relaxed.owl pneumonia caused by gram negative bacteria|pneumonia caused by gram-negative bacteria|gram negative pneumonia|pneumonia due to gram negative bacteria|pneumonia due to gram-negative bacteria UMLS:C0854248|SCTID:430395005 owl:Class HGNC:2865 biolink:NamedThing DHH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024988 biolink:NamedThing sex cord-stromal benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. tmpak2llvmy_mondo_relaxed.owl DOID:0080368 owl:Class MONDO:0014723 biolink:NamedThing PMP22-RAI1 contiguous gene duplication syndrome tmpak2llvmy_mondo_relaxed.owl dup(17)(p11.2p12)|YUHAL|trisomy 17p11.2p12|YUAN-Harel-Lupski syndrome|17p11.2p12 microduplication syndrome|trisomy 17p11.2-p12|Yuan-Harel-Lupski syndrome UMLS:C4225255|Orphanet:477817|OMIM:616652 owl:Class MONDO:0016967 biolink:NamedThing partial duplication of the long arm of chromosome 17 tmpak2llvmy_mondo_relaxed.owl trisomy 17q|partial duplication of the long arm of chromosome type 17|partial trisomy of the long arm of chromosome 17|partial trisomy 17q|partial duplication of chromosome 17q|17q duplication|partial trisomy of chromosome 17q|17q trisomy|Duplication 17q|chromosome 17q duplication Orphanet:262968|GARD:0005320|UMLS:CN035860 owl:Class MONDO:0010373 biolink:NamedThing premature ovarian failure 2B Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. tmpak2llvmy_mondo_relaxed.owl POF1B primary ovarian failure|primary ovarian failure caused by mutation in POF1B|POF2B|premature ovarian failure 2B|premature ovarian failure type 2B MESH:C564476|OMIM:300604|UMLS:C1845105 owl:Class GO:1990731 biolink:NamedThing UV-damage excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpak2llvmy_mondo_relaxed.owl UVDE-dependent excision repair, DNA incision|DNA incision involved in alternative excision repair|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in UV-damage excision repair|DNA incision involved in UVER|DNA incision involved in AER|nucleic acid cleavage involved in UV-damage excision repair|alternative excision repair, DNA incision|UV-damaged DNA endonuclease-dependent excision repair, DNA incision owl:Class GO:0090305 biolink:NamedThing nucleic acid phosphodiester bond hydrolysis The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis. tmpak2llvmy_mondo_relaxed.owl nucleic acid cleavage owl:Class GO:1903380 biolink:NamedThing positive regulation of mitotic chromosome condensation Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. tmpak2llvmy_mondo_relaxed.owl up regulation of mitotic chromosome condensation|up-regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation owl:Class MONDO:0006345 biolink:NamedThing palmar fibromatosis A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. tmpak2llvmy_mondo_relaxed.owl Dupuytren contracture (disease)|Dupuytren contracture|palmar fibromatosis|Dupuytren's contracture|palmar part of manus fibromatosis MESH:D004387|EFO:1000438|EFO:0004229|HP:0005679|NCIT:C3469|SCTID:203045001 owl:Class MONDO:0044990 biolink:NamedThing hand disease A disease or disorder that involves the manus. tmpak2llvmy_mondo_relaxed.owl hand disease|manus disease|disorder of hand|disease of manus|manus disease or disorder|disease or disorder of manus|disorder of manus SCTID:118933004|UMLS:C1290871 owl:Class ECTO:4000027 biolink:NamedThing exposure to freezing water A exposure event involving the interaction of an exposure receptor to frozen of liquid water. tmpak2llvmy_mondo_relaxed.owl exposure to frozen in liquid water owl:Class ECTO:0000979 biolink:NamedThing exposure to temperature of environmental surroundings A exposure event involving the interaction of an exposure receptor to temperature of environmental material. tmpak2llvmy_mondo_relaxed.owl temperature of environmental material exposure owl:Class CL:0000446 biolink:NamedThing chief cell of parathyroid gland An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. tmpak2llvmy_mondo_relaxed.owl parathyroid gland chief cell|parathyroid hormone secreting cell|parathyroid chief cell|principal cell of parathyroid gland FMA:69078|CALOHA:TS-2140|BTO:0004712 cell owl:Class MONDO:0013853 biolink:NamedThing pontocerebellar hypoplasia type 1B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|PCH1B|pontocerebellar hypoplasia, type 1B|pontocerebellar hypoplasia type 1B|EXOSC3 non-syndromic pontocerebellar hypoplasia DOID:0060266|UMLS:C3553449|OMIM:614678 owl:Class MONDO:0021577 biolink:NamedThing malignant mediastinal neural neoplasm tmpak2llvmy_mondo_relaxed.owl malignant neuroma of mediastinum UMLS:C0349665|SCTID:278044006 owl:Class MONDO:0005843 biolink:NamedThing mediastinal cancer A malignant neoplasm involving the mediastinum tmpak2llvmy_mondo_relaxed.owl tumour of mediastinum|cancer of mediastinum|mediastinal tumor|malignant neoplasm of the mediastinum|mediastinal cancer|malignant mediastinal tumor|malignant tumor of mediastinum|malignant neoplasm of mediastinum|cancer of the mediastinum|mediastinum cancer|malignant mediastinum neoplasm|malignant tumor of the mediastinum|malignant mediastinal neoplasm SCTID:363494000|EFO:0007362|DOID:5559|MESH:D008479|NCIT:C3549|ICD10:C38.3|ICD9:164.9 owl:Class MONDO:0001284 biolink:NamedThing endometriosis of intestine Endometriosis that affects the intesines. tmpak2llvmy_mondo_relaxed.owl endometriosis (disease) of intestine|intestine endometriosis (disease) UMLS:C0156347|DOID:11428|ICD10:N80.5|ICD9:617.5|SCTID:5562006 owl:Class MONDO:0013031 biolink:NamedThing chromosome 5Q14.3 deletion syndrome, distal tmpak2llvmy_mondo_relaxed.owl chromosome 5Q14.3 deletion syndrome, distal|heterotopia, periventricular, associated with chromosome 5Q deletion|periventricular nodular heterotopia 5 OMIM:612881|MESH:C567876|UMLS:C2752071 owl:Class MONDO:0009556 biolink:NamedThing malonic aciduria Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). tmpak2llvmy_mondo_relaxed.owl malonic acidemia|malonic aciduria|Malonicaciduria|MCD deficiency|malonyl-CoA decarboxylase deficiency Orphanet:943|ICD10:E72.8|OMIM:248360|MESH:C535702|UMLS:C0342793|GARD:0003371|SCTID:361203007 owl:Class MONDO:0017717 biolink:NamedThing metabolic disease due to other fatty acid oxidation disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:E71.3|UMLS:CN203613|Orphanet:309133 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0021164 biolink:NamedThing posthitis An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. tmpak2llvmy_mondo_relaxed.owl inflammation of prepuce of penis|prepuce of penis inflammation SCTID:44318002|UMLS:C0235640 owl:Class UBERON:0005367 biolink:NamedThing hippocampus granule cell layer tmpak2llvmy_mondo_relaxed.owl hippocampus granular layer owl:Class UBERON:0002305 biolink:NamedThing layer of hippocampus The layers of the laminar structure of the hippocampus. tmpak2llvmy_mondo_relaxed.owl hippocampus layer|cytoarchitectural fields of hippocampal formation|layer of cornu ammonis|hippocampus proper layer owl:Class HGNC:4044 biolink:NamedThing FZD6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013141 biolink:NamedThing autosomal dominant macrothrombocytopenia TUBB1-related Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|macrothrombocytopenia, autosomal dominant, TUBB1-related|TUBB1 autosomal dominant macrothrombocytopenia DOID:0090102|ICD10:D69.4|MESH:C567747|OMIM:613112|UMLS:C2751259 owl:Class MONDO:0015372 biolink:NamedThing autosomal dominant macrothrombocytopenia This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets. tmpak2llvmy_mondo_relaxed.owl UMLS:C4304021|SCTID:720521008|UMLS:CN199474|ICD10:D69.4|Orphanet:140957 owl:Class MONDO:0010936 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. tmpak2llvmy_mondo_relaxed.owl dementia, familial nonspecific|FTD3|CHMP2B amyotrophic lateral sclerosis|frontotemporal dementia, chromosome 3-linked|amyotrophic lateral sclerosis, Chmp2B-related|CHMP2B-related amyotrophic lateral sclerosis|Dmt1|amyotrophic lateral sclerosis caused by mutation in CHMP2B SCTID:702393003|ICD9:331.19|MESH:C579991|MESH:C563708|UMLS:C1833296|OMIM:614696|DOID:0060208|OMIM:600795|UMLS:C1836076|DOID:0111227 owl:Class MONDO:0017160 biolink:NamedThing behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. tmpak2llvmy_mondo_relaxed.owl bv-FTD UMLS:C4011788|ICD10:G31.0|Orphanet:275864|SCTID:716994006 owl:Class GO:0002639 biolink:NamedThing positive regulation of immunoglobulin production Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. tmpak2llvmy_mondo_relaxed.owl up-regulation of immunoglobulin production|stimulation of immunoglobulin production|positive regulation of immunoglobulin secretion|activation of immunoglobulin production|positive regulation of immunoglobulin biosynthetic process|up regulation of immunoglobulin production|upregulation of immunoglobulin production owl:Class MONDO:0003574 biolink:NamedThing external ear cancer A malignant neoplasm involving the external ear. tmpak2llvmy_mondo_relaxed.owl cancer of external ear|external ear cancer|malignant external Ear neoplasm|malignant external Ear tumor|malignant neoplasm of the external ear|malignant tumor of the external Ear|malignant external ear neoplasm|malignant neoplasm of the external Ear|malignant neoplasm of external ear|malignant tumor of external Ear|malignant neoplasm of external Ear SCTID:277156006|NCIT:C4653|DOID:5665|UMLS:C0349576 owl:Class MONDO:0007988 biolink:NamedThing autosomal dominant primary microcephaly Autosomal dominant form of microcephaly (disease). tmpak2llvmy_mondo_relaxed.owl autosomal dominant primary microcephaly|microcephaly (disease), autosomal dominant|microcephaly with autosomal dominant inheritance|microcephaly, autosomal dominant|microcephaly autosomal dominant|autosomal dominant microcephaly OMIM:156580|ICD10:Q02|Orphanet:2514|UMLS:C4755316|MESH:C537323|GARD:0003605|DOID:14725 https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant|https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0002235 biolink:NamedThing eyelid neoplasm A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. tmpak2llvmy_mondo_relaxed.owl eyelid neoplasm|neoplasm of the eyelid|neoplasm of eyelid|tumor of the eyelid|palpebral tumor|tumor of eyelid|eyelid neoplasm (disease)|eyelid tumor Orphanet:98580|SCTID:278697001|EFO:1000934|DOID:2173|NCIT:C3031|UMLS:C0015424|MESH:D005142 owl:Class UBERON:0009648 biolink:NamedThing eyelid subcutaneous connective tissue A eyelid connective tissue that is part of a hypodermis. tmpak2llvmy_mondo_relaxed.owl superficial fascia of eyelid owl:Class UBERON:0003581 biolink:NamedThing eyelid connective tissue A portion of connective tissue that is part of a eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of blepharon|blepharon connective tissue|connective tissue of eyelid owl:Class NCBITaxon:7371 biolink:NamedThing Calliphoridae tmpak2llvmy_mondo_relaxed.owl blow-fly|bottle flies|blowflly|blow flly|blow flies|blowflies GC_ID:1 ncbi_taxonomy owl:Class UBERON:0015004 biolink:NamedThing tibia endochondral element The major preaxial endochondral element in the posterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl tibia element|tibia skeletal element owl:Class UBERON:0015022 biolink:NamedThing hindlimb endochondral element A hindlimb bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl hindlimb bone skeletal element owl:Class MONDO:0004637 biolink:NamedThing aryepiglottic fold cancer A malignant neoplasm involving the aryepiglottic fold. tmpak2llvmy_mondo_relaxed.owl malignant tumor aryepiglottic fold - hypopharyngeal aspect|aryepiglottic fold cancer|malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm|cancer of aryepiglottic fold|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold ICD10:C13.1|DOID:8663|SCTID:187708004|ICD9:148.2 owl:Class CHEBI:48278 biolink:NamedThing serotonergic drug tmpak2llvmy_mondo_relaxed.owl serotonergic drugs|serotonin drugs|serotonergic agents owl:Class CHEBI:35942 biolink:NamedThing neurotransmitter agent A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. tmpak2llvmy_mondo_relaxed.owl neurotransmitter agents owl:Class GO:0003810 biolink:NamedThing protein-glutamine gamma-glutamyltransferase activity Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. tmpak2llvmy_mondo_relaxed.owl fibrinoligase activity|fibrin stabilizing factor|protein-glutamine:amine gamma-glutamyltransferase|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|TGase activity|factor XIIIa|polyamine transglutaminase activity|transglutaminase activity|glutaminylpeptide gamma-glutamyltransferase activity|tissue transglutaminase owl:Class GO:0016755 biolink:NamedThing aminoacyltransferase activity Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl aminoacyltransferase activity|transferase activity, transferring amino-acyl groups owl:Class MONDO:0004227 biolink:NamedThing epididymal adenomatoid tumor A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis. tmpak2llvmy_mondo_relaxed.owl adenomatoid neoplasm of the epididymis|adenomatoid tumor of epididymis|epididymis adenomatoid tumor|adenomatoid neoplasm of epididymis|adenomatoid tumor of the epididymis|epididymal adenomatoid tumor|benign epididymal epithelial mesothelioma UMLS:C1333415|DOID:745|NCIT:C6382|SCTID:449052009 owl:Class GO:0043255 biolink:NamedThing regulation of carbohydrate biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. tmpak2llvmy_mondo_relaxed.owl regulation of carbohydrate synthesis|regulation of carbohydrate formation|regulation of carbohydrate biosynthesis|regulation of carbohydrate anabolism owl:Class MONDO:0002683 biolink:NamedThing adult choroid plexus neoplasm A choroid plexus neoplasm that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl choroid plexus neoplasm of adults|neoplasm of the adult choroid plexus|tumor of adult choroid plexus|adult choroid plexus cancer|adult choroid plexus neoplasm|adult choroid plexus tumor|choroid plexus neoplasm|tumor of the adult choroid plexus|neoplasm of adult choroid plexus UMLS:C0796430|NCIT:C8568|DOID:3542 owl:Class UBERON:0011847 biolink:NamedThing acinus of parotid gland An acinus that is part of a parotid gland. tmpak2llvmy_mondo_relaxed.owl parotid gland acinus owl:Class MONDO:0003608 biolink:NamedThing optic atrophy A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. tmpak2llvmy_mondo_relaxed.owl atrophy of optic disc ICD10:H47.20|ICD10:H47.2|MESH:D009896|UMLS:C0029124|ICD9:377.1|DOID:5723|UMLS:C1744705|ICD9:377.10|NCIT:C34863|SCTID:76976005 owl:Class HGNC:18969 biolink:NamedThing IL31RA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009589 biolink:NamedThing mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Reardon-Hall-Slaney syndrome|mesomelic limb shortening and bowing|mesomelic dysplasia, Reardon type|mesomelic dwarfism cleft palate camptodactyly|mesomelic dysplasia, Kozlowski-Reardon type GARD:0003552|OMIM:249710|MESH:C565404|Orphanet:2631|SCTID:715471007|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly owl:Class CL:0000553 biolink:NamedThing megakaryocyte progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). tmpak2llvmy_mondo_relaxed.owl megakaryocytic progenitor cell|CFU-Meg|megakaryoblast|MkP|Meg-CFC|promegakaryocyte|megacaryoblast|colony-forming unit-megakaryocyte|promegacaryocyte|megacaryocyte progenitor cell BTO:0001164|CALOHA:TS-0610|FMA:84235 Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. cell owl:Class MONDO:0021515 biolink:NamedThing benign neoplasm of ethmoidal sinus A benign neoplasm that involves the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl benign ethmoidal sinus neoplasm|benign ethmoid sinus neoplasm|benign tumor of ethmoid sinus|benign neoplasm of the ethmoid sinus|benign neoplasm of ethmoid sinus|benign ethmoid sinus tumor|benign ethmoidal sinus tumor|benign tumor of the ethmoidal sinus|benign tumor of ethmoidal sinus|benign tumor of the ethmoid sinus|benign neoplasm of the ethmoidal sinus|ethmoid sinus benign neoplasm ICD9:212.0|UMLS:C0345670|NCIT:C4417|SCTID:92093000 owl:Class MONDO:0000633 biolink:NamedThing sensory organ benign neoplasm A benign neoplasm that involves the sense organ. tmpak2llvmy_mondo_relaxed.owl sense organ benign neoplasm DOID:0060096 owl:Class MONDO:0008395 biolink:NamedThing Ruvalcaba syndrome Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. tmpak2llvmy_mondo_relaxed.owl Ruvalcaba syndrome UMLS:C0265248|MESH:C579395|Orphanet:3121|SCTID:3073006|GARD:0004748|ICD9:759.89|ICD10:Q87.8|OMIM:180870 https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome owl:Class MONDO:0021507 biolink:NamedThing benign neoplasm of brain stem A benign neoplasm that involves the brainstem. tmpak2llvmy_mondo_relaxed.owl benign brain stem neoplasms|benign tumor of brain stem|benign tumor of the brainstem|benign tumor of the brain stem|benign neoplasm of the brain stem|benign neoplasms of the brainstem|benign brainstem neoplasms|benign neoplasm of the brainstem|benign tumors of the brainstem|benign brain stem neoplasm|benign neoplasm of brainstem|brainstem benign neoplasm|benign tumor of brainstem|benign brainstem neoplasm|benign brainstem tumor|benign tumors of brainstem|benign brainstem tumors|benign neoplasms of brainstem|benign brain stem tumor NCIT:C8549|SCTID:92029009|UMLS:C0686400 owl:Class MONDO:0002811 biolink:NamedThing main bronchus cancer A malignant neoplasm involving the main bronchus. tmpak2llvmy_mondo_relaxed.owl main bronchus cancer|malignant neoplasm of main bronchus|cancer of main bronchus|Ca main bronchus|malignant main bronchus neoplasm UMLS:C0153490|ICD9:162.2|SCTID:372065009|ICD10:C34.0|DOID:3924 owl:Class MONDO:0009655 biolink:NamedThing Sanfilippo syndrome type A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis, type IIIA|mucopoly-saccharidosis type 3A|heparan sulfate sulfatase deficiency|mucopolysaccharidosis type IIIA|mucopolysaccharidosis, type 3A|Sanfilippo A|mucopolysaccharidosis type 3A|MPS III A|Sanfilippo syndrome type A|MPS 3A|MPSIIIA|sulfamidase deficiency|MPS3A|heparane sulfamidase deficiency|heparan sulfamidase deficiency|Sanfilippo syndrome a|MPS IIIA GARD:0007071|SCTID:41572006|OMIM:252900|GARD:0002649|ICD10:E76.2|DOID:0111395|Orphanet:79269|NCIT:C84897|UMLS:C0086647 owl:Class MONDO:0018937 biolink:NamedThing mucopolysaccharidosis type 3 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. tmpak2llvmy_mondo_relaxed.owl N-sulphoglucosamine sulphohydrolase deficiency|Sanfilippo's syndrome|Sanfilippo syndrome|heparan sulfate sulfatase deficiency|MPS IIIB - Sanfilippo syndrome B|NAGLU deficiency|mucopolysaccharidosis III|Mucopoly-saccharidosis type 3|mucopolysaccharidosis, MPS-III|mucopolysaccharidosis, MPS-III-B|mucopolysaccharidosis type IIIB|N-acetyl-alpha-D-glucosaminidase deficiency|MPS IIIA - Sanfilippo syndrome A|Sanfilippo syndrome B|Sanfilippo disease|MPS3|mucopolysaccharidosis type III|MPS IIID - Sanfilippo syndrome D|MPS IIIC - Sanfilippo syndrome C|Sanfilippo syndrome A|MPSIII|mucopolysaccharidosis type IIIA DOID:12801|GARD:0003807|ICD10:E76.2|MedDRA:10056890|NCIT:C61262|ICD10:E76.22|Orphanet:581|UMLS:C0026706|SCTID:88393000|UMLS:CN205330 owl:Class MONDO:0021476 biolink:NamedThing benign neoplasm of tongue A benign neoplasm that involves the tongue. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the tongue|benign tumor of tongue|benign tongue neoplasm|benign tongue tumor|tongue neoplasm, benign|benign tumor of the tongue|tongue benign neoplasm ICD9:210.1|NCIT:C3592|ICD10:D10.1|SCTID:92443005|UMLS:C0153933 owl:Class MONDO:0060624 biolink:NamedThing neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter|NDAGSCW UMLS:C4540498|OMIM:617807 owl:Class MONDO:0100387 biolink:NamedThing acute myeloid leukemia, Monosomy 7 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.) tmpak2llvmy_mondo_relaxed.owl AML, Monosomy 7 term to be merged with: MONDO:0005223 'acute myeloid leukemia with minimal differentiation' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0017191 biolink:NamedThing sporadic pheochromocytoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN202631|ICD10:C74.1|Orphanet:276624|ICD10:D35.0 owl:Class MONDO:0017190 biolink:NamedThing sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. tmpak2llvmy_mondo_relaxed.owl ICD10:C74.1|Orphanet:276621|UMLS:CN202630|GARD:0007385|ICD10:D35.0 owl:Class CHEBI:50858 biolink:NamedThing corticosteroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. tmpak2llvmy_mondo_relaxed.owl corticosteroides|corticoides|corticosteroids owl:Class FOODON:00003374 biolink:NamedThing harvested food material Organic food material that has been harvested. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00002403 biolink:NamedThing food material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience tmpak2llvmy_mondo_relaxed.owl sustenance|nourishment|foodstuff|food owl:Class HGNC:6371 biolink:NamedThing KLKB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002475 biolink:NamedThing lacrimal gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the lacrimal gland tmpak2llvmy_mondo_relaxed.owl lacrimal gland adenocarcinoma|adenocarcinoma of the lacrimal gland|adenocarcinoma of lacrimal gland SCTID:254988008|UMLS:C0346341|DOID:298|NCIT:C4541 owl:Class GO:0045667 biolink:NamedThing regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007367 biolink:NamedThing febrile seizures, familial, 1 tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 1|convulsions, familial febrile|FEB1|convulsions, familial febrile, 1 ICD9:780.39|UMLS:C1852577|MESH:C565162|SCTID:230432008|OMIM:121210|DOID:0111307 owl:Class MONDO:0000032 biolink:NamedThing febrile seizures, familial tmpak2llvmy_mondo_relaxed.owl seizures, familial febrile DOID:0111297|OMIMPS:121210 owl:Class GO:0046173 biolink:NamedThing polyol biosynthetic process The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpak2llvmy_mondo_relaxed.owl polyhydric alcohol biosynthetic process|polyol anabolism|polyol formation|polyol synthesis|polyol biosynthesis owl:Class HP:0011013 biolink:NamedThing Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023599 An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. peter 2011-02-21T09:47:27Z human_phenotype owl:Class MONDO:0030360 biolink:NamedThing cholestasis, progressive familial intrahepatic, 6 tmpak2llvmy_mondo_relaxed.owl PFIC6|cholestasis, progressive familial intrahepatic, 6 OMIM:619484 owl:Class UBERON:0013498 biolink:NamedThing vestibulo-cochlear VIII ganglion complex tmpak2llvmy_mondo_relaxed.owl vestibulocochlear VIII ganglion complex|vestibulocochlear ganglion complex|vestibular VIII ganglion complex owl:Class MONDO:0010857 biolink:NamedThing semantic dementia Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. tmpak2llvmy_mondo_relaxed.owl multiple system tauopathy with presenile dementia|Ftdp17|FTD|Wilhelmsen-Lynch disease|Ftld with Tau inclusions|frontotemporal dementia|disinhibition-dementia-Parkinsonism-amyotrophy Complex|dementia, frontotemporal, with Parkinsonism|semantic variant PPA|Pallidopontonigral Degeneration|frontotemporal lobe dementia|semantic primary progressive aphasia|frontotemporal dementia with Parkinsonism|frontotemporal lobar Degeneration with Tau inclusions|Pick Complex Orphanet:100069|ICD10:G31.0|OMIM:600274|UMLS:C1862937|GARD:0010792 owl:Class MONDO:0004332 biolink:NamedThing lung hilum cancer A malignant neoplasm involving the lung hilus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lung hilus|malignant tumor of the lung hilum|cancer of lung hilus|malignant neoplasm of the lung hilum|malignant lung hilum neoplasm|malignant hilar lung tumor|malignant lung hilus neoplasm|malignant lung hilum tumor|malignant neoplasm of lung hilum|malignant tumor of lung hilum|primary malignant neoplasm of hilus of lung|lung hilus cancer|malignant hilar lung neoplasm NCIT:C4566|UMLS:C2607931|SCTID:93827000|DOID:7696|UMLS:C0346601 owl:Class MONDO:0009772 biolink:NamedThing oculorenocerebellar syndrome tmpak2llvmy_mondo_relaxed.owl ORC syndrome|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy|oculorenocerebellar syndrome GARD:0004050|Orphanet:2715|OMIM:257970|UMLS:C1850331|MESH:C537739 https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome owl:Class MONDO:0020253 biolink:NamedThing syndrome with a symptomatic strabismus tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN207072|Orphanet:98683 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class CL:2000071 biolink:NamedThing mammary microvascular endothelial cell Any microvascular endothelial cell that is part of a breast. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7600 TermGenie 2014-10-07T19:55:30Z cell owl:Class CL:2000008 biolink:NamedThing microvascular endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:07:42Z cell owl:Class UBERON:0007267 biolink:NamedThing trachea pre-cartilage rings A pre-cartilage condensation that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002583 biolink:NamedThing mucinous ovarian cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. tmpak2llvmy_mondo_relaxed.owl benign mucinous cystadenoma of ovary|mucinous cystadenoma of the ovary|benign ovarian mucinous cystadenoma|benign mucinous cystadenoma of the ovary|ovary mucinous cystadenoma|ovarian mucinous cystadenoma|mucinous cystadenoma of ovary NCIT:C4512|UMLS:C0346172|DOID:3267|SCTID:119422004 owl:Class MONDO:0006859 biolink:NamedThing mucinous cystadenoma A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpak2llvmy_mondo_relaxed.owl pseudomucinous cystadenoma|mucinous cystadenoma|mucinous adenoma|adenoma, mucinous, benign|mucinous cystoma ICDO:8470/0|UMLS:C0010635|ICDO:8480/0|MESH:D018291|EFO:1001048|NCIT:C2973 owl:Class UBERON:0006255 biolink:NamedThing ischial pre-cartilage condensation A ischial endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008692 biolink:NamedThing abetalipoproteinemia Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. tmpak2llvmy_mondo_relaxed.owl Bassen Kornzweig syndrome|acanthocytosis|microsomal triglyceride transfer Protein deficiency|ABL|Betalipoprotein deficiency disease|abetalipoproteinemia neuropathy|homozygous familial hypobetalipoproteinemia|familial hypobetalipoproteinemia|microsomal triglyceride transfer protein deficiency disease|MTP deficiency|congenital betalipoprotein deficiency syndrome|Bassen-Kornzweig syndrome|abetalipoproteinemia|apolipoprotein B deficiency|Bassen-Kornzweig disease Orphanet:14|DOID:1386|MESH:D000012|SCTID:190787008|ICD10:E78.6|NCIT:C84525|OMIM:200100|UMLS:C0000744|GARD:0000005 owl:Class GO:0042330 biolink:NamedThing taxis The directed movement of a motile cell or organism in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl directed movement in response to stimulus owl:Class UBERON:0001813 biolink:NamedThing spinal nerve plexus an intermingling of fiber fascicles from adjacent spinal nerves to form a network. tmpak2llvmy_mondo_relaxed.owl somatic nerve plexus|plexus nervorum spinalium|plexus of spinal nerves|spinal nerve plexus owl:Class MONDO:0010718 biolink:NamedThing absent radius-anogenital anomalies syndrome Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl radial aplasia, X-linked|radial aplasia and anogenital anomalies|radius absent anogenital anomalies OMIM:312190|MESH:C535281|GARD:0004633|UMLS:C1839410|Orphanet:3016 owl:Class MONDO:0019618 biolink:NamedThing Sheehan syndrome An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. tmpak2llvmy_mondo_relaxed.owl Sheehan's syndrome|postpartum panhypopituitarism|postpartum panhypopituitary syndrome|postpartum pituitary necrosis|postpartum hypopituitarism SCTID:290653008|MedDRA:10036297|Orphanet:91355|NCIT:C35300|DOID:9476|GARD:0007630|UMLS:C0242342|ICD10:E23.0 owl:Class MONDO:0002760 biolink:NamedThing bladder squamous cell carcinoma A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming. tmpak2llvmy_mondo_relaxed.owl urinary bladder squamous cell carcinoma|epidermoid carcinoma of the urinary bladder|bladder epidermoid carcinoma|bladder squamous cell cancer|squamous cell carcinoma of bladder|epidermoid carcinoma of bladder|bladder squamous cell carcinoma|BLSC|squamous cell carcinoma of the urinary bladder|urinary bladder epidermoid carcinoma|squamous cell carcinoma of urinary bladder|epidermoid carcinoma of urinary bladder|epidermoid carcinoma of the bladder|squamous cell carcinoma of the bladder DOID:3742|ONCOTREE:BLSC|SCTID:255111004|EFO:1000130|NCIT:C4031|UMLS:C0279681 owl:Class UBERON:0005276 biolink:NamedThing dorsal skin of finger A dorsal skin of digit that is part of a manual digit. tmpak2llvmy_mondo_relaxed.owl subdivision of skin of dorsal part of finger|dorsal finger skin|skin of dorsal part of finger owl:Class UBERON:0005275 biolink:NamedThing dorsal skin of digit tmpak2llvmy_mondo_relaxed.owl dorsal digit skin|skin of dorsal part of digit owl:Class MONDO:0017738 biolink:NamedThing lysosomal glycogen storage disease tmpak2llvmy_mondo_relaxed.owl ICD10:E74.0|Orphanet:309337|UMLS:CN203642 owl:Class MONDO:0019129 biolink:NamedThing global developmental delay-osteopenia-ectodermal defect syndrome This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. tmpak2llvmy_mondo_relaxed.owl SCTID:717813005|ICD10:Q87.8|UMLS:CN227576|Orphanet:73223 owl:Class MONDO:0000432 biolink:NamedThing lymphoplasmacytic lymphoma A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. tmpak2llvmy_mondo_relaxed.owl lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|Immunocytoma, lymphoplasmacytic type|lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytoid lymphoma|lymphoplasmacytic lymphoma|lymphoma, plasmacytic ICD10:C88.0|ICDO:9671/3|ICDO:9761/3|ONCOTREE:LPL|DOID:0050747|NCIT:C3212|ICD9:273.3|UMLS:C0334633 owl:Class UBERON:0010418 biolink:NamedThing urethral opening An orifice that is part of a lower urinary tract. tmpak2llvmy_mondo_relaxed.owl urethral orifice owl:Class UBERON:0005207 biolink:NamedThing tonsil capsule A capsule that is part of a tonsil [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003893 biolink:NamedThing capsule A cover or envelope partly or wholly surrounding a structure. Examples: egg shell, articular capsules, renal capsules[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018059 biolink:NamedThing meningococcal meningitis An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. tmpak2llvmy_mondo_relaxed.owl EFO:1001040|ICD9:036.0|SCTID:192644005|ICD10:A39.0|DOID:0080176|MedDRA:10027249|Orphanet:33475|MedDRA:10027276|MESH:D008585|UMLS:C0025294|ICD10:G01*|ICD10:A39.0+ owl:Class GO:0030547 biolink:NamedThing signaling receptor inhibitor activity Binds to and modulates the activity of a signaling receptor. tmpak2llvmy_mondo_relaxed.owl receptor inhibitor activity owl:Class GO:0030545 biolink:NamedThing signaling receptor regulator activity Binds to and modulates the activity of a receptor. tmpak2llvmy_mondo_relaxed.owl receptor regulator activity owl:Class MONDO:0019625 biolink:NamedThing familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. tmpak2llvmy_mondo_relaxed.owl familial TAAD|familial thoracic aortic aneurysm|familial thoracic aortic aneurysm and dissection|familial aortic aneurysm|annuloaortic ectasia|Erdheim disease|Erdheim cystic medial necrosis of aorta|familial aortic dissection|cystic medial necrosis of aorta|FTAAD|familial thoracic aortic aneurysm and aortic dissection Orphanet:91387|SCTID:45894003|OMIMPS:607086|Orphanet:229|ICD10:Q87.4|SCTID:764965000|GARD:0002249|ICD9:447.9|UMLS:CN118826|UMLS:C0392775|GARD:0001654|ICD10:I71.0 owl:Class MONDO:0017311 biolink:NamedThing rare disease with thoracic aortic aneurysm and aortic dissection tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:I71.2|Orphanet:285014|UMLS:CN202889|ICD10:I71.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular disease' MONDO_0005385 owl:Class MONDO:0005990 biolink:NamedThing tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. tmpak2llvmy_mondo_relaxed.owl tracheal mucosa inflammation|acute tracheitis|tracheal Inflammation|inflammation of tracheal mucosa|chronic tracheitis ICD9:464.1|UMLS:C0149513|NCIT:C78643|DOID:9392|SCTID:62994001|MESH:D014136|UMLS:C0264322|UMLS:C0040584|ICD10:J04.1|EFO:0007518 MONDO:0020691 owl:Class MONDO:0002567 biolink:NamedThing tracheal disease A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl disease of trachea|trachea disease or disorder|disorder of trachea|tracheal disorder|trachea disease|disease or disorder of trachea MESH:D014133|DOID:3225|SCTID:47125007|NCIT:C35079|UMLS:C0040580|ICD10:S12.8 owl:Class MONDO:0003507 biolink:NamedThing choriocarcinoma of ovary A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. tmpak2llvmy_mondo_relaxed.owl ovarian choriocarcinoma|germ cell choriocarcinoma of the ovary|choriocarcinoma of ovary|choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|ovarian germ cell choriocarcinoma|ovary choriocarcinoma (disease) NCIT:C4515|SCTID:254870004|UMLS:C0346181|EFO:1000413|DOID:5550 owl:Class UBERON:0002101 biolink:NamedThing limb A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. tmpak2llvmy_mondo_relaxed.owl extremity|limb sensu Vertebrata|free limb|tetrapod limb|pentadactyl limb|flipper|extremities owl:Class GO:0071214 biolink:NamedThing cellular response to abiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to abiotic stress owl:Class MONDO:0004001 biolink:NamedThing compartment syndrome Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. tmpak2llvmy_mondo_relaxed.owl compartment syndrome|compartmental syndrome GARD:0006141|MESH:D003161|NCIT:C118422|SCTID:111245009|UMLS:C0009492|ICD9:958.8|DOID:682|ICD10:T79.A0|ICD9:958.90 https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome owl:Class UBERON:0002027 biolink:NamedThing stratum corneum of epidermis the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells tmpak2llvmy_mondo_relaxed.owl keratinized squame layer of epidermis|horny layer of epidermis|epidermis stratum corneum|stratum corneum epidermidis|keratinized squame layer|stratum corneum|cornified layer|horny layer owl:Class MONDO:0006975 biolink:NamedThing smooth muscle tumor A benign or malignant myomatous neoplasm arising from smooth muscle. tmpak2llvmy_mondo_relaxed.owl neoplasm of the smooth muscle|neoplasm of smooth muscle|smooth muscle neoplasm|tumor of smooth muscle|tumor of the smooth muscle|smooth muscle tumor NCIT:C3751|MESH:D018235|EFO:1001185|UMLS:C0206658|DOID:4310 owl:Class MONDO:0021545 biolink:NamedThing myomatous neoplasm A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. tmpak2llvmy_mondo_relaxed.owl myofibroblastoma|neoplasm of muscle|myomatous neoplasm|neoplasm of the muscle|muscle neoplasm|tumor of muscle|muscle tissue neoplasm|myoblastomas|myofibroblastomas|muscle tumor|muscle tissue neoplasms|tumor of the muscle|myomatous tumor|neoplasm, muscle tissue|myoblastoma MESH:D019042|NCIT:C4063|MESH:D009379 owl:Class MONDO:0002520 biolink:NamedThing hepatic porphyria A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. tmpak2llvmy_mondo_relaxed.owl Delta-aminolevulinate dehydratase deficiency|ALAD deficiency|hepatic porphyria|porphobilinogen synthase deficiency|acute porphyria|porphyria, hepatic|porphyria of liver|hepatic Porphyrias|liver porphyria|acute hepatic porphyria Orphanet:95157|ICD10:E80.2|GTR:AN0932921|UMLS:CN552491|MESH:D017094|DOID:3133|SCTID:55056006|UMLS:C0162533 owl:Class MONDO:0018198 biolink:NamedThing acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. tmpak2llvmy_mondo_relaxed.owl AIEF|acute infantile encephalopathy predominantly affecting the frontal lobes|AESD ICD10:G40.4|SCTID:766044005|Orphanet:363549 owl:Class MONDO:0017079 biolink:NamedThing meningoencephalocele A congenital abnormality in which the meninges protrude through a defect in the cranium. tmpak2llvmy_mondo_relaxed.owl brain meninx cephalocele (disease)|meningoencephalocele|cranial meningocele|cephalocele (disease) of brain meninx|encephalomeningocele ICD10:Q01.1|ICD10:Q01.9|UMLS:C0009694|Orphanet:268820|ICD10:Q01.2|SCTID:52330001|ICD10:Q01.8|NCIT:C124517|GARD:0003473|ICD10:Q01.0 owl:Class MONDO:0001147 biolink:NamedThing meningocele A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. tmpak2llvmy_mondo_relaxed.owl meningocele (disease)|meningocele|spinal meningocele|central nervous system meningocele meningocele (disease) Orphanet:93968|NCIT:C101209|GARD:0003471|MESH:D008588|UMLS:C0025299|SCTID:171131006|HP:0002435|DOID:1088|NCIT:C105595 owl:Class NCBITaxon:11095 biolink:NamedThing Pestivirus tmpak2llvmy_mondo_relaxed.owl PMID:7747470|GC_ID:1|PMID:12832207 ncbi_taxonomy owl:Class NCBITaxon:11050 biolink:NamedThing Flaviviridae tmpak2llvmy_mondo_relaxed.owl Flavivirus (arbovirus group B) GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012282 biolink:NamedThing Al-Gazali syndrome An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. tmpak2llvmy_mondo_relaxed.owl eye defects arachnodactyly cardiopathy|Al Gazali Al Talabani syndrome|Al Gazali syndrome|Al-Gazali syndrome MESH:C536817|GARD:0010054|UMLS:C1836121|Orphanet:2725|OMIM:609465 https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome owl:Class MONDO:0019715 biolink:NamedThing syndrome with synostosis or other joint formation defect tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:93459|UMLS:CN206620 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0007691 biolink:NamedThing Guillain-Barre syndrome, familial A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. tmpak2llvmy_mondo_relaxed.owl CIDP|polyneuropathy, inflammatory demyelinating, chronic|polyneuropathy, inflammatory demyelinating, acute|chronic inflammatory demyelinating polyneuropathy|GBS|Guillain-Barre syndrome, familial|chronic inflammatory demyelinating polyradiculoneuropathy OMIM:139393|MedDRA:10057645|GARD:0006102|SCTID:716723000|ICD10:G61.8 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467 owl:Class MONDO:0016218 biolink:NamedThing Guillain-Barre syndrome A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. tmpak2llvmy_mondo_relaxed.owl Guillain Barré syndrome|post-infective polyneuritis|postinfectious polyneuritis|post-infectious polyneuritis|acute inflammatory demyelinating polyneuropathy|acute postinfectious polyneuropathy|acute immune-mediated polyneuropathy|Guillain-Barré-Strohl syndrome|Guillain-Barre-Strohl syndrome|Landry-Guillain-Barre-Strohl syndrome|acute inflammatory neuropathy|Guillain Barre syndrome|Landry's ascending paralysis|Guillain-Barré syndrome|acute autoimmune peripheral neuropathy|GBS GARD:0006554|UMLS:C0018378|EFO:0007292|ICD10:G61.0|DOID:12842|MESH:D020275|NCIT:C116345|MedDRA:10018767|SCTID:40956001|Orphanet:2103 owl:Class MONDO:0008504 biolink:NamedThing supravalvular aortic stenosis SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. tmpak2llvmy_mondo_relaxed.owl aortic supravalvular stenosis|supra-valvular aortic stenosis|supravalvar aortic stenosis, Eisenberg type|SVAS|supravalvular aortic stenosis (disease)|supravalvular aortic stenosis supravalvular aortic stenosis (disease) OMIM:185500|Orphanet:3193|GARD:0000743|ICD10:Q25.3|SCTID:268185002|UMLS:C0003499|HP:0004381|MedDRA:10042598|DOID:1929 owl:Class MONDO:0020286 biolink:NamedThing aortic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98718 owl:Class GO:0002444 biolink:NamedThing myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. tmpak2llvmy_mondo_relaxed.owl myeloid leucocyte immune effector process|myeloid leukocyte immune effector process|myeloid leucocyte mediated immunity owl:Class GO:0002443 biolink:NamedThing leukocyte mediated immunity Any process involved in the carrying out of an immune response by a leukocyte. tmpak2llvmy_mondo_relaxed.owl cellular immune response|immune cell mediated immunity|leucocyte immune effector process|immune cell effector process|leukocyte immune effector process|cell-mediated immune response|leucocyte mediated immunity owl:Class MONDO:0016756 biolink:NamedThing inherited nervous system cancer-predisposing syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:252190|UMLS:CN202004 owl:Class CHEBI:58945 biolink:NamedThing organophosphate oxoanion An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. tmpak2llvmy_mondo_relaxed.owl organophosphate oxoanions owl:Class MONDO:0001935 biolink:NamedThing neurogenic arthropathy Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl Charcot's joint|Charcot's arthropathy|neuropathic arthropathy|arthropathy associated with neurological disorder|neuropathic arthropathy (& Charcot's) MESH:D001177|UMLS:C0003892|ICD10:M14.6|SCTID:359554008|DOID:14286|EFO:1001378|ICD9:713.5 owl:Class CL:0002305 biolink:NamedThing epithelial cell of distal tubule An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. tmpak2llvmy_mondo_relaxed.owl kidney distal tubule epithelial cell KUPO:0001055|FMA:62125|FMA:70981 cell owl:Class UBERON:0005066 biolink:NamedThing right ventricular trabecular myocardium . tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004391 biolink:NamedThing epiphysis of first metacarpal bone An epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl first metacarpal bone epiphysis|metacarpal 1 epiphysis owl:Class GO:0035235 biolink:NamedThing ionotropic glutamate receptor signaling pathway A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl ionotropic glutamate receptor signalling pathway owl:Class GO:0007215 biolink:NamedThing glutamate receptor signaling pathway A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl glutamate signalling pathway|glutamate signaling pathway owl:Class UBERON:0035431 biolink:NamedThing mediastinal pleura The parietal pleura that lines the mediastinum. tmpak2llvmy_mondo_relaxed.owl pars mediastinalis pleurae parietalis|mediastinal part of parietal pleura|pars mediastinalis (pleurae) owl:Class MONDO:0014881 biolink:NamedThing transketolase deficiency tmpak2llvmy_mondo_relaxed.owl short stature-developmental delay-congenital heart defect syndrome|short stature, developmental delay, and congenital heart defects|SDDHD|TKT deficiency UMLS:C4310751|Orphanet:488618|OMIM:617044 owl:Class MONDO:0007260 biolink:NamedThing Car factor deficiency tmpak2llvmy_mondo_relaxed.owl Car factor deficiency UMLS:C1861898|OMIM:114650|MESH:C566176 owl:Class GO:0043565 biolink:NamedThing sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. tmpak2llvmy_mondo_relaxed.owl sequence specific DNA binding owl:Class GO:0003677 biolink:NamedThing DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). tmpak2llvmy_mondo_relaxed.owl structure-specific DNA binding|plasmid binding|microtubule/chromatin interaction|structure specific DNA binding owl:Class MONDO:0030913 biolink:NamedThing intellectual disability, autosomal dominant 48 tmpak2llvmy_mondo_relaxed.owl microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|autosomal dominant intellectual disability 48|autosomal dominant mental retardation 48|mental retardation, autosomal dominant 48|intellectual disability, autosomal dominant 48|MRD48 Orphanet:500159|UMLS:CN580791|OMIM:617751|DOID:0080235|EFO:0009156 owl:Class MONDO:0005941 biolink:NamedThing retroperitoneal cancer A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of retroperitoneum and peritoneum|cancer of retroperitoneal space|neoplasm of the retroperitoneum|retroperitoneal neoplasm|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal space neoplasm|malignant neoplasm of retroperitoneal space|retroperitoneal space cancer|tumor of retroperitoneum|malignant neoplasm of retroperitoneum|malignant retroperitoneal neoplasm|neoplasm of retroperitoneum|malignant retroperitoneal cancer ICD9:158.0|EFO:0007466|MESH:D012186|DOID:5875|ICD10:C48|SCTID:126872008|NCIT:C3537|ICD10:C48.0|ICD9:158 owl:Class MONDO:0024495 biolink:NamedThing tumor grade 1 or 2, general grading system tmpak2llvmy_mondo_relaxed.owl grade 1/2 owl:Class MONDO:0024489 biolink:NamedThing general tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. tmpak2llvmy_mondo_relaxed.owl disease grade qualifier NCIT:C28076 owl:Class MONDO:0020193 biolink:NamedThing secretory apparatus of the lacrimal system anomaly tmpak2llvmy_mondo_relaxed.owl disease of lacrimal gland|lacrimal gland disease|disorder of lacrimal gland Orphanet:98603 owl:Class MONDO:0016268 biolink:NamedThing papillary carcinoma of the corpus uteri A papillary carcinoma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl endometrial capillary carcinoma|body of uterus papillary carcinoma Orphanet:213726|ICD10:C54.1|UMLS:CN201057 Editor note: check relationship to MONDO:0006196 owl:Class GO:1904064 biolink:NamedThing positive regulation of cation transmembrane transport Any process that activates or increases the frequency, rate or extent of cation transmembrane transport. tmpak2llvmy_mondo_relaxed.owl up-regulation of cation transmembrane transport|up regulation of cation transmembrane transport|activation of cation transmembrane transport|upregulation of cation transmembrane transport owl:Class MONDO:0002783 biolink:NamedThing Shwartzman phenomenon Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. tmpak2llvmy_mondo_relaxed.owl Shwartzman reaction (function)|Shwartzman reaction UMLS:C0037018|GARD:0007636|DOID:3825|MESH:D012790 https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon owl:Class MONDO:0006052 biolink:NamedThing pulmonary tuberculosis A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. tmpak2llvmy_mondo_relaxed.owl lung tuberculosis|pulmonary TB|lung TB ICD9:011.84|UMLS:C0041327|ICD9:011.9|DOID:2957|MESH:D014397|ICD9:011.86|ICD9:011.85|ICD9:011.92|SCTID:154283005|ICD9:011.90|ICD10:A15.0|NCIT:C26899|ICD9:011.96|ICD9:011|ICD9:011.16|ICD9:011.81|ICD9:011.80|EFO:1000049|ICD10:A15 owl:Class MONDO:0006997 biolink:NamedThing tibial neuropathy Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) tmpak2llvmy_mondo_relaxed.owl tibial neuropathy (disorder) [ambiguous]|Posterior tibial neuropathy UMLS:C0751932|MESH:D020429|DOID:1187|EFO:1001213|SCTID:399076001 owl:Class MONDO:0011813 biolink:NamedThing polydactyly, postaxial, type A3 tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, type A3|Papa3|PAPA3|postaxial polydactyly, type A3 OMIM:607324|UMLS:C1846452|MESH:C564590 owl:Class HP:0008776 biolink:NamedThing Abnormal renal artery morphology Any structural abnormality of the renal artery. tmpak2llvmy_mondo_relaxed.owl Abnormal kidney artery|Abnormality of the renal artery UMLS:C4024624 peter 2008-04-04T06:13:00Z human_phenotype owl:Class UBERON:0022248 biolink:NamedThing cerebral nerve fasciculus tmpak2llvmy_mondo_relaxed.owl telencephalic fascicle|cerebral fascicle|cerebral fasciculus|telencephalic nerve fascicle|nerve fascicle of telencephalon owl:Class UBERON:0005838 biolink:NamedThing fasciculus of brain A fascicle that is part of a brain. tmpak2llvmy_mondo_relaxed.owl brain fasciculus owl:Class UBERON:0001206 biolink:NamedThing serosa of small intestine A serous membrane that is part of a small intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl serous membrane of small intestine|small bowel serous membrane|small bowel serosa|small intestinal serosa|serous coat of small intestine|small intestine serous membrane|serous membrane of small bowel|tunica serosa (intestinum tenue)|visceral peritoneum of small intestine|small intestine serosa|serosa of small bowel|tunica serosa intestini tenuis owl:Class UBERON:0001243 biolink:NamedThing serosa of intestine A serous membrane that is part of a wall of intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl serosa of wall of bowel|serosa of bowel anatomical wall|serous membrane of intestine wall|serous membrane of intestine anatomical wall|serosa of intestinal wall|intestine anatomical wall serosa|bowel anatomical wall serous membrane|wall of intestine serosa|serous membrane of bowel wall|anatomical wall of intestine serosa|serosa of anatomical wall of bowel|serous membrane of intestinal wall|serous membrane of anatomical wall of intestine|intestine wall serosa|serous membrane of wall of bowel|wall of bowel serous membrane|intestine anatomical wall serous membrane|serous membrane of bowel anatomical wall|serous membrane of wall of intestine|visceral peritoneum of intestine|serosa of bowel wall|serosa of intestine wall|serosa of intestine anatomical wall|serosa of wall of intestine|anatomical wall of bowel serous membrane|bowel anatomical wall serosa|bowel wall serosa|serosa of anatomical wall of intestine|bowel wall serous membrane|intestine serosa|wall of intestine serous membrane|intestinal wall serous membrane|wall of bowel serosa|intestinal serosa|anatomical wall of bowel serosa|intestine wall serous membrane|serous membrane of anatomical wall of bowel|anatomical wall of intestine serous membrane|intestinal wall serosa owl:Class MONDO:0018698 biolink:NamedThing hereditary neuroendocrine tumor of small intestine An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary neuroendocrine tumor of small bowel|hereditary small intestine neuroendocrine neoplasm|hereditary neuroendocrine tumor of the small intestine UMLS:CN237770|Orphanet:456333|UMLS:CN847586 owl:Class MONDO:0003053 biolink:NamedThing choroid plexus meningioma A meningioma that affects the choroid plexus. tmpak2llvmy_mondo_relaxed.owl meningioma of the choroid plexus|choroid meningioma (morphologic abnormality)|meningioma of choroid plexus|choroid plexus meningioma (disease)|meningioma (disease) of choroid plexus|choroid plexus meningioma UMLS:C0431118|DOID:4584|NCIT:C4719 owl:Class MONDO:0007930 biolink:NamedThing Bernard-Soulier syndrome, type A2, autosomal dominant A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. tmpak2llvmy_mondo_relaxed.owl Bernard-Soulier syndrome, type A2, autosomal dominant|Bernard-Soulier syndrome type A2|BSSA2 OMIM:153670|UMLS:C3277076|DOID:0111059 MONDO:0000915 owl:Class MONDO:0002847 biolink:NamedThing skeletal muscle cancer A malignant neoplasm arising from skeletal muscle. tmpak2llvmy_mondo_relaxed.owl malignant skeletal muscle neoplasm|cancer of skeletal muscle tissue|malignant tumor of skeletal muscle|malignant neoplasm of skeletal muscle tissue|malignant neoplasm of the skeletal muscle|malignant skeletal muscle tumor|malignant tumor of the skeletal muscle|skeletal muscle tissue cancer|malignant neoplasm of skeletal muscle|malignant skeletal muscle tissue neoplasm NCIT:C6516|UMLS:C1334619|DOID:4043 owl:Class MONDO:0002848 biolink:NamedThing skeletal muscle neoplasm A benign or malignant mesenchymal neoplasm arising from skeletal muscle. tmpak2llvmy_mondo_relaxed.owl skeletal muscle tumor|tumor of the skeletal muscle|tumor of skeletal muscle|neoplasm of the skeletal muscle|skeletal muscle neoplasm|neoplasm of skeletal muscle|skeletal muscle tissue neoplasm|skeletal muscle tissue tumor|skeletal muscle tissue neoplasm (disease)|neoplasm of skeletal muscle tissue|tumor of skeletal muscle tissue UMLS:C1335971|NCIT:C6514|DOID:4044|ICD9:239.2|SCTID:699955004 owl:Class MONDO:0011524 biolink:NamedThing Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. tmpak2llvmy_mondo_relaxed.owl Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|Dianzani autoimmune lymphoproliferative disease|DALD|Dianzani autoimmune lymphoproliferative syndrome GARD:0009797|ICD10:D47.9|Orphanet:275523|MESH:C535950|UMLS:C2931071|SCTID:721093000|OMIM:605233 owl:Class MONDO:0016537 biolink:NamedThing lymphoproliferative syndrome A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). tmpak2llvmy_mondo_relaxed.owl lymphoproliferative disorder DOID:0060704|UMLS:CN201619|SCTID:277466009|Orphanet:238510|MESH:D008232|NCIT:C9308|OMIMPS:308240 owl:Class GO:0002702 biolink:NamedThing positive regulation of production of molecular mediator of immune response Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. tmpak2llvmy_mondo_relaxed.owl upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|stimulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response owl:Class GO:0002700 biolink:NamedThing regulation of production of molecular mediator of immune response Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007278 biolink:NamedThing cataract 32 multiple types A cataract that has material basis in mutation in the region 14q22-q23. tmpak2llvmy_mondo_relaxed.owl CTRCT32|cataract, anterior polar, 1|cataract, anterior polar|posterior polar cataract 5|CTPP5|CTAA1|anterior polar cataract 1|cataract 32, multiple types|cataract, posterior polar, 5 OMIM:115650|ICD10:Q12.0|DOID:0110227 Links to OMIM series but not listed. owl:Class MONDO:0003789 biolink:NamedThing hereditary papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. tmpak2llvmy_mondo_relaxed.owl hereditary papillary renal cell carcinoma|hereditary papillary carcinoma of the kidney|hereditary papillary renal carcinoma|hereditary kidney papillary carcinoma|familial renal papillary carcinoma|Hereditary Papillary renal cell cancer|hereditary papillary carcinoma of kidney DOID:6163|NCIT:C9222|SCTID:715561008|UMLS:C0879257 owl:Class MONDO:0017884 biolink:NamedThing papillary renal cell carcinoma Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. tmpak2llvmy_mondo_relaxed.owl papillary renal cell cancer|papillary kidney carcinoma|papillary renal cell carcinoma|sporadic papillary renal cell carcinoma|renal cell carcinoma, papillary, 1|renal cell carcinoma, papillary, type 1|chromophil carcinoma of kidney|renal adenocarcinoma|chromophil renal cell carcinoma|chromophil carcinoma of the kidney|HPRCC|papillary renal cell carcinoma, sporadic - (subtype)|chromophil RCC|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal cell carcinoma, multiple - (subtype)|RCCP|papillary renal carcinoma, malignant - (subtype)|papillary renal cell adenocarcinoma|papillary (chromophil) renal cell carcinoma|RCCP1|papillary renal cell carcinoma, familial - (subtype) DOID:4465|UMLS:C1306837|Orphanet:319298|SCTID:733608000|Orphanet:47044|NCIT:C6975|GARD:0009572|ICD10:C64|GARD:0009575|EFO:0000640|UMLS:C1336078|UMLS:CN205129|ONCOTREE:PRCC|OMIM:605074 https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma owl:Class NCBITaxon:1717 biolink:NamedThing Corynebacterium diphtheriae tmpak2llvmy_mondo_relaxed.owl Pacinia loeffleri|Microsporon diphtheriticum|Bacterium diphtheriae|Microsporon diphthericum|Mycobacterium diphtheriae|Bacillus diphtheriae GC_ID:11|PMID:7729671 ncbi_taxonomy owl:Class NCBITaxon:1716 biolink:NamedThing Corynebacterium tmpak2llvmy_mondo_relaxed.owl Turicella PMID:8186090|PMID:30186281|PMID:7547284|PMID:19661509|PMID:7547291|PMID:10425754|PMID:29760685|GC_ID:11|PMID:7547293 NCBITaxon:144193 ncbi_taxonomy owl:Class MONDO:0013124 biolink:NamedThing pelvic organ prolapse, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl pelvic organ prolapse, susceptibility to, 2|Pvop2|pelvic organ prolapse, susceptibility to, type 2 OMIM:613088 owl:Class MONDO:0000082 biolink:NamedThing pelvic organ prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. tmpak2llvmy_mondo_relaxed.owl MESH:D056887|SCTID:237113009|EFO:0004710|UMLS:C0877015 Text of OMIM 613088 points to OMIM 176780 for disease description. owl:Class MONDO:0014526 biolink:NamedThing polyglucosan body myopathy type 2 Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. tmpak2llvmy_mondo_relaxed.owl PGBM2|polyglucosan body myopathy caused by mutation in GYG1|polyglucosan body myopathy 2|polyglucosan body myopathy type 2|GYG1 polyglucosan body myopathy Orphanet:456369|UMLS:C4015452|ICD10:E74.0|OMIM:616199 owl:Class MONDO:0010165 biolink:NamedThing ulna hypoplasia-intellectual disability syndrome Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. tmpak2llvmy_mondo_relaxed.owl ulna hypoplasia with intellectual disability|bilateral ulnar hypoplasia and intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|ulna hypoplasia with mental retardation|bilateral ulnar hypoplasia and mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|ulnar hypoplasia with mental retardation|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|ulnar hypoplasia with intellectual disability GARD:0005398|UMLS:C1848650|OMIM:276821|Orphanet:2249|UMLS:C2931370|ICD10:Q87.2|MESH:C564757 owl:Class MONDO:0024535 biolink:NamedThing Singleton-Merten syndrome 1 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. tmpak2llvmy_mondo_relaxed.owl singleton-Merten dysplasia caused by mutation in IFIH1|IFIH1 singleton-Merten dysplasia|singleton-Merten syndrome 1|SGMRT1 OMIM:182250|UMLS:C4225427 owl:Class UBERON:0002803 biolink:NamedThing right parietal lobe Parietal lobe of the right hemisphere of the brain tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001872 biolink:NamedThing parietal lobe Upper central part of the cerebral hemisphere. (MSH) tmpak2llvmy_mondo_relaxed.owl lobus parietalis|regio parietalis|parietal region owl:Class MONDO:0004447 biolink:NamedThing pituitary stalk meningioma A meningioma that affects the pituitary stalk. tmpak2llvmy_mondo_relaxed.owl meningioma of the pituitary stalk|meningioma of pituitary stalk|pituitary stalk meningioma (disease)|meningioma (disease) of pituitary stalk DOID:8058|UMLS:C1335422|NCIT:C5311 owl:Class CL:0001066 biolink:NamedThing erythroid progenitor cell, mammalian A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). tmpak2llvmy_mondo_relaxed.owl erythroid stem cell|CFU-E|BFU-E|blast forming unit erythroid|colony forming unit erythroid|burst forming unit erythroid BTO:0004911 cell owl:Class CL:0000038 biolink:NamedThing erythroid progenitor cell A progenitor cell committed to the erythroid lineage. tmpak2llvmy_mondo_relaxed.owl burst forming unit erythroid|CFU-E|BFU-E|colony forming unit erythroid|blast forming unit erythroid|erythroid stem cell BTO:0004911 cell owl:Class MONDO:0010566 biolink:NamedThing X-linked cone-rod dystrophy 1 tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy X-linked 1|cone dystrophy 1, X-linked|cone-rod dystrophy, X-linked, type 1|COD1|cone dystrophy X-linked 1|cone-rod dystrophy, X-linked, 1|X-linked cone-rod dystrophy type 1|X-linked cone dystrophy 1|CORDX1 OMIM:304020|MESH:C564438|DOID:0111008|GARD:0010652 https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1 owl:Class MONDO:0009737 biolink:NamedThing galactosialidosis Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. tmpak2llvmy_mondo_relaxed.owl protective Protein/Cathepsin a deficiency|Goldberg syndrome|GSL|PPCA deficiency|cathepsin A deficiency of|neuraminidase deficiency with beta-galactosidase deficiency|galactosialidosis|cathepsin A deficiency|lysosomal protective Protein deficiency|lysosomal protective protein deficiency of|neuraminidase/Beta-galactosidase expression SCTID:35691006|NCIT:C129928|MESH:C536411|ICD9:277.6|DOID:0080540|UMLS:C0268233|Orphanet:351|OMIM:256540|ICD10:E77.1|GARD:0003953 https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis owl:Class MONDO:0037251 biolink:NamedThing congestive splenomegaly tmpak2llvmy_mondo_relaxed.owl banti syndrome|congestive splenomegaly|banti's spleen|fibrocongestive splenomegaly SCTID:19058002 owl:Class MONDO:0005001 biolink:NamedThing chronic gastritis Inflammation of the stomach that is chronic in nature. tmpak2llvmy_mondo_relaxed.owl gastritis (disease), chronic|chronic gastritis|chronic gastritis (disease) chronic gastritis (disease) SCTID:8493009|HP:0005231|NCIT:C26929|ICD9:535.40|ICD9:535.4|EFO:0000337|ICD9:535.41|UMLS:C0085695 owl:Class MONDO:0008494 biolink:NamedThing cryohydrocytosis A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. tmpak2llvmy_mondo_relaxed.owl pseudohyperkalemia Cardiff|stomatocytosis, cold-sensitive|cryohydrocytosis|hereditary cryohydrocytosis with normal stomatin|CHC OMIM:185020|Orphanet:398088|MESH:C535827|GARD:0010184|UMLS:C1861453|ICD10:D58.8 owl:Class MONDO:0100406 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.3;q24.3) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, inv(16)(p13q24)|AML, inv(16)(p13.3q24.3)|AML, inv(16)(p13;q24)|AML, inv(16)(p13.3;q24.3) owl:Class HGNC:13156 biolink:NamedThing ZNF81 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904220 biolink:NamedThing regulation of serine C-palmitoyltransferase activity Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpak2llvmy_mondo_relaxed.owl regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|regulation of 3-oxosphinganine synthetase activity|regulation of serine palmitoyltransferase|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|regulation of SPT owl:Class UBERON:0003424 biolink:NamedThing mesenchyme of hard palate Mesenchyme that is part of a developing hard palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hard palate mesenchyme owl:Class MONDO:0009618 biolink:NamedThing microcephaly-cardiomyopathy syndrome A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly with cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy|Winship-Viljoen-Leary syndrome GARD:0003609|Orphanet:2515|OMIM:251220|ICD10:Q87.8|UMLS:C1855080|SCTID:719380003|MESH:C536711 owl:Class MONDO:0001765 biolink:NamedThing polyneuropathy in collagen vascular disease tmpak2llvmy_mondo_relaxed.owl ICD9:357.4|UMLS:C0154759|DOID:13649|ICD9:357.1|SCTID:193177003 owl:Class MONDO:0004203 biolink:NamedThing female urethral cancer A cancer that involves the female urethra. tmpak2llvmy_mondo_relaxed.owl malignant female urethra neoplasm|cancer of female urethra|female urethra cancer|malignant neoplasm of female urethra|female urethral malignant neoplasm NCIT:C39866|DOID:738|UMLS:C1517154 owl:Class MONDO:0004192 biolink:NamedThing urethra cancer A malignant neoplasm involving the urethra tmpak2llvmy_mondo_relaxed.owl urethral Ca|malignant urethra tumor|malignant neoplasm of the urethra|malignant tumor of urethra|cancer of urethra|malignant tumour of urethra|malignant neoplasm of urethra|malignant urethra neoplasm|malignant urethral tumor|malignant tumor of the urethra|malignant urethral neoplasm|urethra cancer|urethral cancer ONCOTREE:UCA|ICD9:189.3|GARD:0009390|ICD10:C68.0|NCIT:C7507|SCTID:363459007|DOID:734 owl:Class FOODON:03460177 biolink:NamedThing plant seed or nut food product tmpak2llvmy_mondo_relaxed.owl nut or seed added http://www.langual.org/langual_thesaurus.asp?termid=H0177 LanguaL curation note: With the exception of peanut (see *PEANUT OR PEANUT BUTTER ADDED*), used when a nut or seed ingredient is the second ingredient in order of predominance. This disjunction is provided for food indexers who used the LanguaL category per guidelines. Currently, by specifying the more specific nut or seed as ingredient instead, this category can be inferred. owl:Class MONDO:0011190 biolink:NamedThing nephronophthisis 2 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. tmpak2llvmy_mondo_relaxed.owl NPHP2|INVS nephronophthisis (disease)|infantile nephronophthisis 2|NPH2|nephronophthisis (disease) caused by mutation in INVS|Nph2|nephronophthisis 2|nephronophthisis type 2 OMIM:602088|UMLS:C1865872|DOID:0111113|MESH:C566582|Orphanet:93591 owl:Class MONDO:0017384 biolink:NamedThing acute generalized exanthematous pustulosis A widespread acute rash characterized by fever and multiple small pustules on a reddish background. tmpak2llvmy_mondo_relaxed.owl AGEP|pustular drug eruption|toxic pustuloderma SCTID:702617007|Orphanet:293173|ICD9:709.8|MESH:D056150|NCIT:C112122|MedDRA:10048799|UMLS:C0877055 owl:Class GO:0045920 biolink:NamedThing negative regulation of exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis. tmpak2llvmy_mondo_relaxed.owl inhibition of exocytosis|down-regulation of exocytosis|downregulation of exocytosis|down regulation of exocytosis owl:Class FOODON:03411222 biolink:NamedThing fish Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411021 biolink:NamedThing fish or lower water animal An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010536 biolink:NamedThing nephron progenitor tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000479 biolink:NamedThing tissue Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. tmpak2llvmy_mondo_relaxed.owl simple tissue|tissue portion|portion of tissue owl:Class UBERON:0011590 biolink:NamedThing commissure of diencephalon A commissure that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl diencephalon commissure owl:Class MONDO:0018894 biolink:NamedThing distal hereditary motor neuropathy tmpak2llvmy_mondo_relaxed.owl dSMA|distal spinal muscular atrophy|dHMN SCTID:230247001|GARD:0012683|Orphanet:53739 https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy owl:Class MONDO:0024257 biolink:NamedThing hereditary motor neuron disease An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary motor neuron disease|genetic motor neuron disease|genetic anterior horn cell disease UMLS:CN207018|SCTID:49793008|Orphanet:98505 owl:Class MONDO:0006926 biolink:NamedThing haemophilus infectious disease Infections with bacteria of the genus haemophilus. tmpak2llvmy_mondo_relaxed.owl haemophilus infectious disease|Hemophilus infections|Haemophilus infectious disease|infection, Haemophilus|infection, Hemophilus|Haemophilus disease or disorder|infections, Hemophilus|Hemophilus infection|Haemophilus infection|Haemophilus caused disease or disorder|infections, Haemophilus MESH:D006192|NCIT:C34654|EFO:1001127|SCTID:41659003 owl:Class UBERON:0005492 biolink:NamedThing hyaloid vessel A blood vessel that is associated with the lens. In mammals, this is transient and normally nourishes the retina, immature lens and primary vitreous of the developing eye. tmpak2llvmy_mondo_relaxed.owl hyaloid blood vessels|hyaloid vasculature|hyaloid vessels|hyaloid vascular system|hyaloid capillary system owl:Class MONDO:0011550 biolink:NamedThing fibromatosis, gingival, with hypertrichosis and intellectual disability tmpak2llvmy_mondo_relaxed.owl fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability OMIM:605400|MESH:C565331|UMLS:C1854306 owl:Class MONDO:0003266 biolink:NamedThing ependymal tumor A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO) tmpak2llvmy_mondo_relaxed.owl ependymal tumor|ependymal tumors|ependymomal tumor|ependymal neoplasm ICD10:C71.7|NCIT:C6770|UMLS:C1333407|ONCOTREE:EPMT|UMLS:CN203416|EFO:1000027|Orphanet:301 owl:Class MONDO:0009489 biolink:NamedThing hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl PPK, Gamborg-Nielsen type|palmoplantar keratoderma, Norrbotten recessive type|PPKNR|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Orphanet:86923|ICD10:Q82.8|MESH:C565454|OMIM:244850|SCTID:717228004 owl:Class MONDO:0020096 biolink:NamedThing autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive form of isolated diffuse palmoplantar keratoderma. tmpak2llvmy_mondo_relaxed.owl autosomal recessive isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal recessive ICD10:Q82.8|UMLS:CN229269|Orphanet:98356 owl:Class MONDO:0009916 biolink:NamedThing 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. tmpak2llvmy_mondo_relaxed.owl 17-KSR deficiency|17 beta HSD3 deficiency|17-ketoreductase deficiency|46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 alpha KSR deficiency|Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|17 Beta HSD3 deficiency|17-Beta hydroxysteroid dehydrogenase 3 deficiency|Male pseudoherma-phroditism with gynecomastia|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|17-ketosteroid reductase deficiency of testis|17 alpha ketosteroid reductase deficiency of testis|pseudohermaphroditism, Male, with gynecomastia|17-ketosteroidreductase deficiency GARD:0005659|NCIT:C120203|OMIM:264300|SCTID:50658006|ICD10:E29.1|Orphanet:752|MESH:C537805|MESH:C564868 owl:Class MONDO:0024337 biolink:NamedThing urothelial neoplasm A neoplasm involving a urothelium. tmpak2llvmy_mondo_relaxed.owl tumor of urothelium|urothelium neoplasm|neoplasm of urothelium|transitional cell neoplasm of the urinary tract|urothelium tumor|urothelial neoplasm|urothelium neoplasm (disease) UMLS:C1519840|NCIT:C39852 owl:Class MONDO:0021066 biolink:NamedThing urinary system neoplasm A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 tmpak2llvmy_mondo_relaxed.owl tumor of urinary system|neoplasm of the urinary system|urinary tract tumor|neoplasm of renal system|urinary system neoplasm|urinary system tumor|renal system tumor|renal system neoplasm (disease)|renal system neoplasm|neoplasm of urinary tract|tumor of renal system|tumor of the urinary tract|tumor of the urinary system|tumor of urinary tract|neoplasm of urinary system|neoplasm of the urinary tract|urinary tract neoplasm SCTID:126879004|NCIT:C3431|ONCOTREE:BLADDER|ICD9:239.5 Editor note: note the ONCOTREE class is more general than just bladder owl:Class UBERON:0018118 biolink:NamedThing right renal cortex interstitium A renal cortex interstitium that is part of a right kidney. tmpak2llvmy_mondo_relaxed.owl cortical interstitial tissue of right kidney owl:Class UBERON:0018114 biolink:NamedThing right kidney interstitium A kidney interstitium that is part of a right kidney. tmpak2llvmy_mondo_relaxed.owl stroma of right kidney|right renal stroma owl:Class MONDO:0014404 biolink:NamedThing Webb-Dattani syndrome tmpak2llvmy_mondo_relaxed.owl hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome|WEDAS|WEBB-Dattani syndrome|Webb-Dattani syndrome|hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies Orphanet:370006|UMLS:C4014708|OMIM:615926 owl:Class HP:0001269 biolink:NamedThing Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. tmpak2llvmy_mondo_relaxed.owl Weakness of one side of body MSH:D010291|SNOMEDCT_US:20022000|SNOMEDCT_US:127377003|UMLS:C0018989 human_phenotype owl:Class HP:0004374 biolink:NamedThing Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. tmpak2llvmy_mondo_relaxed.owl Paralysis or weakness of one side of body UMLS:C0375206 peter 2008-03-18T07:35:00Z human_phenotype owl:Class MONDO:0014412 biolink:NamedThing hyperlipoproteinemia, type 1D Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. tmpak2llvmy_mondo_relaxed.owl hyperlipoproteinemia, type ID|familial hyperlipidemia caused by mutation in GPIHBP1|hyperlipoproteinemia, type 1D|GPIHBP1 familial hyperlipidemia UMLS:C4014767|Orphanet:535458|DOID:0111420|OMIM:615947 owl:Class MONDO:0017748 biolink:NamedThing inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation tmpak2llvmy_mondo_relaxed.owl disorder of glycosphingolipid and GPI-anchored proteins glycosylation|disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation UMLS:CN227194|ICD10:E77.8|Orphanet:309515 owl:Class MONDO:0006283 biolink:NamedThing lymphoepithelioma-like lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration. tmpak2llvmy_mondo_relaxed.owl lymphoepithelioma-like carcinoma of the lung EFO:1000340|ONCOTREE:LECLC|NCIT:C45519|UMLS:C1708792 owl:Class MONDO:0003050 biolink:NamedThing lung large cell carcinoma A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. tmpak2llvmy_mondo_relaxed.owl anaplastic lung carcinoma|large cell carcinoma of lung|LCLC|large cell lung cancer|large cell carcinoma of the lung|large cell undifferentiated lung carcinoma|lung large cell carcinoma|large cell lung carcinoma SCTID:254629004|EFO:0003050|NCIT:C4450|ICD9:162.9|ONCOTREE:LCLC|DOID:4556|UMLS:C0345958|EFO:1000016 MONDO:0006024 owl:Class MONDO:0009067 biolink:NamedThing cystinuria Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. tmpak2llvmy_mondo_relaxed.owl cystinuria, type B|cystinuria, type II|cystinuria-lysinuria|cystinuria, type A/B|cystinuria, type III|cystinuria, type II, formerly|cystinuria, type non-I|cystinuria, type III, formerly|cystinuria, type I, formerly|cystinuria, type a|cystinuria|cystinuria (disease)|cystinuria, type I|CSNU|cystinuria-lysinuria syndrome|cystinuria, type non-I, formerly cystinuria (disease) UMLS:C0010691|NCIT:C84664|ICD10:E72.0|OMIM:220100|MESH:D003555|SCTID:85020001|HP:0003131|DOID:9266|MedDRA:10011778|Orphanet:214|ICD10:E72.01|GARD:0006237 https://rarediseases.info.nih.gov/diseases/6237/cystinuria owl:Class MONDO:0010243 biolink:NamedThing X-linked immunoneurologic disorder X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. tmpak2llvmy_mondo_relaxed.owl neonatal death immune deficiency|immunoneurologic disorder, X-linked|X-linked immunoneurological disorder|Woods Black Norbury syndrome|Woods-Black-Norbury syndrome UMLS:C1848144|MESH:C536743|Orphanet:2571|SCTID:719827008|ICD10:D82.8|OMIM:300076|GARD:0000274 owl:Class MONDO:0003298 biolink:NamedThing vulvar leiomyoma A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl mammalian vulva leiomyoma|vulvar leiomyoma|leiomyoma of mammalian vulva DOID:5142|UMLS:C1520087|NCIT:C40326 owl:Class MONDO:0000643 biolink:NamedThing vulvar benign neoplasm A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. tmpak2llvmy_mondo_relaxed.owl benign vulvar neoplasm|mammalian vulva benign neoplasm|benign neoplasm of the vulva|benign vulva neoplasm|benign vulval neoplasm|vulva benign neoplasm|benign vulva tumor|benign neoplasm of vulva|benign vulvar tumor|benign tumor of the vulva|benign tumor of vulva UMLS:C0154003|SCTID:92486005|DOID:0060109|NCIT:C3611 owl:Class UBERON:0005805 biolink:NamedThing dorsal aorta The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. tmpak2llvmy_mondo_relaxed.owl dorsal aortic root|aortae dorsales|dorsal aortae|aorta dorsalis|dorsal aortæ|dorsal aorta root|DA owl:Class UBERON:0003513 biolink:NamedThing trunk blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of torso|blood vessel of trunk|torso blood vessel owl:Class MONDO:0005585 biolink:NamedThing chemotherapy-induced hypertension A form of hypertension that occurs as a direct result of chemotherapy treatment tmpak2llvmy_mondo_relaxed.owl EFO:0005942 owl:Class MONDO:0004017 biolink:NamedThing pineal region immature teratoma tmpak2llvmy_mondo_relaxed.owl immature teratoma of pineal region|pineal area immature teratoma|immature teratoma of the pineal region|immature teratoma of the pineal area|atypical pineal teratoma|immature teratoma of pineal area NCIT:C6755|UMLS:C1335416|DOID:6858 owl:Class ENVO:02000099 biolink:NamedThing coal dust Dust which is derived from coal. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003867 biolink:NamedThing diffuse meningeal melanocytosis A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) tmpak2llvmy_mondo_relaxed.owl diffuse melanocytosis|diffuse melanosis|diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis NCIT:C6890|ICDO:8728/0|EFO:1000216|DOID:6379|UMLS:C1266112 owl:Class MONDO:0003222 biolink:NamedThing central nervous system melanocytic neoplasm A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. tmpak2llvmy_mondo_relaxed.owl central nervous system melanocytic tumor|melanocytic tumor of the central nervous system|melanocytic neoplasm of the CNS|CNS melanocytic tumor|melanocytic tumor of the CNS|CNS melanocytic neoplasm|melanocytic neoplasm of central nervous system|melanocytic tumor of central nervous system|melanocytic tumor of CNS|primary melanocytic lesion of meninges|melanocytic neoplasm of CNS|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasm|primary melanocytic lesions of the CNS|central nervous system melanocytic neoplasms|central nervous system primary melanocytic lesion DOID:4955|UMLS:C1332887|SCTID:277523004|EFO:1000493|NCIT:C5504 owl:Class MONDO:0005683 biolink:NamedThing brucellosis Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. tmpak2llvmy_mondo_relaxed.owl Rock fever|undulant fever|Gibraltar fever|Malta fever|Cyprus fever|Mediterranean fever|Maltese fever|bang's disease GARD:0005966|UMLS:C0006309|NCIT:C84602|SCTID:75702008|ICD10:A23.0|MedDRA:10006500|ICD9:023.9|DOID:11077|ICD9:023|ICD10:A23.8|Orphanet:1304|MESH:D002006|ICD10:A23.3|ICD10:A23.2|EFO:0007185|ICD10:A23|ICD10:A23.1|ICD10:A23.9 https://rarediseases.info.nih.gov/diseases/5966/brucellosis owl:Class MONDO:0010464 biolink:NamedThing X-linked cerebral-cerebellar-coloboma syndrome syndrome X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. tmpak2llvmy_mondo_relaxed.owl cerebral-cerebellar-coloboma syndrome, X-linked|X-linked intellectual disability, Kroes type|X-linked cerebral-cerebellar-coloboma syndrome Orphanet:163961|UMLS:C3275487|OMIM:300864|ICD10:Q87.8 owl:Class UBERON:0002109 biolink:NamedThing pair of nares Pair of nostrils. tmpak2llvmy_mondo_relaxed.owl nares|nostrils|set of nares|pair of nostrils|nares set owl:Class UBERON:0022298 biolink:NamedThing lower eyelid nerve A nerve that innervates a lower eyelid. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000072 biolink:NamedThing adipose microvascular endothelial cell Any microvascular endothelial cell that is part of a adipose tissue. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7200 TermGenie 2014-10-07T22:13:45Z cell owl:Class UBERON:0016513 biolink:NamedThing cavity of left atrium luminal space of the left atrium of the heart. tmpak2llvmy_mondo_relaxed.owl left atrium lumen|left atrial cavity owl:Class UBERON:0035763 biolink:NamedThing cavity of cardiac chamber tmpak2llvmy_mondo_relaxed.owl cardiac chamber cavity|heart cavity|heart lumen owl:Class MONDO:0019620 biolink:NamedThing congenital esophageal diverticulum Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations. tmpak2llvmy_mondo_relaxed.owl congenital esophageal pouch SCTID:204667006|ICD9:750.4|ICD10:Q39.6|Orphanet:91358 owl:Class MONDO:0015207 biolink:NamedThing non-syndromic esophageal malformation A esophageal malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated esophageal malformation|nonsyndromic esophageal malformation Orphanet:108959 owl:Class HP:0001004 biolink:NamedThing Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. tmpak2llvmy_mondo_relaxed.owl Lymphatic obstruction|Onset of lymphedema around puberty|Lymphoedema|Swelling caused by excess lymph fluid under skin MSH:D008209|UMLS:C1835229|SNOMEDCT_US:234097001|SNOMEDCT_US:30213001|UMLS:C0240278|UMLS:C0024236 HP:0003605 human_phenotype owl:Class MONDO:0009873 biolink:NamedThing pilodental dysplasia-refractive errors syndrome Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl PILODENTAL dysplasia with refractive errors|Euhidrotic ectodermal dysplasia|Trichodental dysplasia with hyperopia|Kopysc-Barczyk-Krol syndrome OMIM:262020|Orphanet:2892|MESH:C535763|UMLS:C1849805|GARD:0000277 owl:Class MONDO:0004565 biolink:NamedThing intestinal obstruction Blockage of the normal flow of the intestinal contents within the bowel. tmpak2llvmy_mondo_relaxed.owl bowel obstruction SCTID:81060008|ICD10:K56.69|DOID:8437|UMLS:C0021843|MESH:D007415|ICD10:K56.60|ICD9:560.89|ICD9:560.9|NCIT:C9175 owl:Class MONDO:0012725 biolink:NamedThing lipoprotein glomerulopathy tmpak2llvmy_mondo_relaxed.owl lipoprotein glomerulopathy|LPG ICD10:N07.8|SCTID:446923008|OMIM:611771|MESH:C567089|ICD9:272.8|Orphanet:329481|UMLS:C2673196|ICD9:593.89 owl:Class MONDO:0016459 biolink:NamedThing 2q23.1 microdeletion syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. tmpak2llvmy_mondo_relaxed.owl chromosome 2q23.1 microdeletion syndrome|Del(2)(q23.1)|monosomy 2q23.1|pseudo-Angelman syndrome Orphanet:228402|ICD10:Q93.5|GARD:0010998|SCTID:719657001 Editor note: TODO check ORDO xref to OMIM https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome owl:Class MONDO:0016901 biolink:NamedThing partial deletion of the long arm of chromosome 2 Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl monosomy 2q|2q monosomy|deletion 2q|partial monosomy 2q|chromosome 2q deletion|partial monosomy of the long arm of chromosome 2|partial deletion of chromosome 2q|partial monosomy of chromosome 2q|2q deletion|partial deletion of the long arm of chromosome type 2 ICD10:Q93.5|UMLS:C0795804|Orphanet:262010|GARD:0003744|MESH:C538315 owl:Class MONDO:0013650 biolink:NamedThing hypotrichosis 10 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. tmpak2llvmy_mondo_relaxed.owl hypt10|HYPT10|hypotrichosis 10|hypotrichosis type 10 DOID:0110707|UMLS:C3280253|OMIM:614238 owl:Class MONDO:0018914 biolink:NamedThing hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. tmpak2llvmy_mondo_relaxed.owl hereditary hypotrichosis simplex Orphanet:55654|MESH:C537160|UMLS:C1854310|SCTID:723362004|GARD:0009170|ICD10:L65.8 owl:Class MONDO:0008371 biolink:NamedThing Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. tmpak2llvmy_mondo_relaxed.owl dark dot disease|Dowling-Degos Kitamura disease|DDD1|Dowling-Degos disease type 1|reticular pigment anomaly of flexures|Dowling-Degos disease 1 ICD10:L81.8|GARD:0009775|Orphanet:79145|MESH:C562924|DOID:0060256|MedDRA:10068651 owl:Class MONDO:0000118 biolink:NamedThing reticulate pigment disorder tmpak2llvmy_mondo_relaxed.owl reticulate pigment disorders OMIMPS:179850 owl:Class MONDO:0013420 biolink:NamedThing age related macular degeneration 12 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. tmpak2llvmy_mondo_relaxed.owl age related macular degeneration type 12|macular Degeneration, age-related, type 12|macular degeneration, age-related, 12|age-related macular degeneration caused by mutation in CX3CR1|CX3CR1 age-related macular degeneration|ARMD12 UMLS:C3151079|DOID:0110024|OMIM:613784 owl:Class MONDO:0003493 biolink:NamedThing thymus squamous cell carcinoma A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpak2llvmy_mondo_relaxed.owl thymic squamous cell carcinoma|epidermoid thymic carcinoma|squamous cell carcinoma of the Thymus|Thymus squamous cell carcinoma|thymus squamous cell carcinoma|squamous cell carcinoma of Thymus UMLS:C1336082|EFO:1000579|NCIT:C6455|DOID:5530 owl:Class MONDO:0012399 biolink:NamedThing complex cortical dysplasia with other brain malformations 7 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene. tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, Complex, with Other brain malformations 7|TUBB2B complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 7|CDCBM7|polymicrogyria due to TUBB2B mutation|polymicrogyria, symmetric or asymmetric|PMGYSA|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|cortical dysplasia, COMPLEX, with OTHER brain malformations 7 GARD:10783|OMIM:610031|UMLS:CN203403|DOID:0090132|Orphanet:300573|ICD10:Q04.3 owl:Class GO:0001802 biolink:NamedThing type III hypersensitivity An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:8457 biolink:NamedThing Sauropsida tmpak2llvmy_mondo_relaxed.owl sauropsids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32524 biolink:NamedThing Amniota tmpak2llvmy_mondo_relaxed.owl amniotes GC_ID:1 ncbi_taxonomy owl:Class NBO:0000185 biolink:NamedThing declarative memory "Ability to become conscious of, or declare, facts and experiences." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl explicit memory owl:Class NBO:0000181 biolink:NamedThing long-term memory "This type of memory, lasting hours to months, critically depends on a transfer of the information from short term memory using repeated rehearsal." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003227 biolink:NamedThing prosopagnosia Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. tmpak2llvmy_mondo_relaxed.owl prosopagnosia|prosopagnosia (disease)|face blindness prosopagnosia (disease) NCIT:C85031|ICD10:R48.3|DOID:4970|HP:0010528 owl:Class MONDO:0016909 biolink:NamedThing partial monosomy of the long arm of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome type 10|partial deletion of chromosome 10q|partial monosomy of chromosome 10q|partial deletion of the long arm of chromosome 10 UMLS:C0795839|ICD10:Q93.5|Orphanet:262083 owl:Class MONDO:0016875 biolink:NamedThing partial deletion of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 10 ICD10:Q93.5|Orphanet:261811 owl:Class UBERON:0007823 biolink:NamedThing appendage girdle region An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). tmpak2llvmy_mondo_relaxed.owl fin girdle region|girdle|girdle region|limb girdle region|limb girdle|fin girdle owl:Class MONDO:0044327 biolink:NamedThing polycystic liver disease 4 with or without kidney cysts An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. tmpak2llvmy_mondo_relaxed.owl PCLD4|polycystic liver disease 4 with or without kidney cysts OMIM:617875|UMLS:CN818987 owl:Class MONDO:0000447 biolink:NamedThing autosomal dominant polycystic liver disease An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. tmpak2llvmy_mondo_relaxed.owl AD polycystic liver disease|congenital hepatic cyst|PCLD|polycystic liver disease|isolated polycystic liver disease|isolated congenital polycystic liver disease|congenital cystic liver disease|ADPLD|fibrocystic liver disease HP:0006557|MedDRA:10010427|UMLS:C0158683|NCIT:C82833|ICD10:Q44.6|DOID:0050770|ICD9:751.62|MedDRA:10048834|SCTID:72925005|MedDRA:10083939|OMIMPS:174050|Orphanet:2924|GARD:0009457 https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease owl:Class MONDO:0013928 biolink:NamedThing dystonia 23 Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene. tmpak2llvmy_mondo_relaxed.owl CACNA1B dystonic disorder|DYT23|dystonia type 23|dystonic disorder caused by mutation in CACNA1B|dystonia 23|adult-onset cervical dystonia, DYT23 type DOID:0090051|UMLS:C3538999|Orphanet:420492|OMIM:614860|ICD10:G24.8 owl:Class MONDO:0015990 biolink:NamedThing focal, segmental or multifocal dystonia A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. tmpak2llvmy_mondo_relaxed.owl ICD10:G24.3|ICD10:G24.5|Orphanet:1866|ICD10:G24.8|ICD10:G24.4 owl:Class UBERON:0004086 biolink:NamedThing brain ventricle one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid tmpak2llvmy_mondo_relaxed.owl brain ventricles|region of ventricular system of brain|cerebral ventricle owl:Class MONDO:0014497 biolink:NamedThing polyendocrine-polyneuropathy syndrome tmpak2llvmy_mondo_relaxed.owl PEPNS|polyendocrine-polyneuropathy syndrome Orphanet:453533|UMLS:C4015261|OMIM:616113 owl:Class UBERON:0004814 biolink:NamedThing upper respiratory tract epithelium An epithelium that is part of a upper respiratory tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of upper respiratory tract|epithelial tissue of upper respiratory tract|upper respiratory tract epithelial tissue owl:Class MONDO:0018892 biolink:NamedThing Wyburn-Mason syndrome Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. tmpak2llvmy_mondo_relaxed.owl Cerebrofacial arteriovenous metameric syndrome type 2|bonnet-Decaume-Blanc syndrome|Wyburn Mason's syndrome|CAMS2|Wyburn Mason syndrome|bonnet-Dechaume-Blanc syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes SCTID:6729006|MedDRA:10048661|GARD:0007900|UMLS:C0265321|ICD10:Q28.2|MESH:C536752|Orphanet:53719 owl:Class MONDO:0020182 biolink:NamedThing palpebral tumor with a vascular malformation tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98592|UMLS:CN207042 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: eyelid neoplasm' MONDO_0002235 owl:Class MONDO:0009182 biolink:NamedThing junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa Junctionalis, Herlitz type|epidermolysis bullosa, junctional, Herlitz-Pearson type|junctional epidermolysis bullosa, generalized severe|Herlitz-Pearson-type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz type|JEB, generalized severe|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz-Pearson type|JEB-H|junctional epidermolysis bullosa generalisata gravis|junctional epidermolysis bullosa, Herlitz type|JEB-Herlitz type|Herlitz type epidermolysis bullosa junctionalis|Herlitz-Pearson type epidermolysis bullosa DOID:0060737|GARD:0002153|ICD10:Q81.1|OMIM:226700|Orphanet:79404|SCTID:400140006 https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type owl:Class MONDO:0017612 biolink:NamedThing junctional epidermolysis bullosa Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa atrophicans|JEB|epidermolysis bullosa hereditaria letalis|junctional epidermolysis bullosa|EBJ|epidermolysis bullosa, junctional|congenital junctional epidermolysis bullosa Orphanet:305|NCIT:C90598|SCTID:79855003|GARD:0002152|MESH:D016109|UMLS:C0079301|DOID:3209 https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa owl:Class HGNC:18662 biolink:NamedThing RAX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010793 biolink:NamedThing nephropathy, chronic tubulointerstitial tmpak2llvmy_mondo_relaxed.owl nephropathy, chronic tubulointerstitial OMIM:551200|UMLS:C1838875|MESH:C564016 owl:Class MONDO:0010073 biolink:NamedThing spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Sedt with intellectual disability|spondyloepiphyseal dysplasia tarda with mental retardation|Sedt with mental retardation|spondyloepiphyseal dysplasia tarda with intellectual disability ICD10:Q77.7|OMIM:271620|SCTID:719202006|Orphanet:163665|MESH:C564796|UMLS:C1849053 owl:Class MONDO:0002218 biolink:NamedThing temporal lobe cancer A cancer that involves the temporal lobe. tmpak2llvmy_mondo_relaxed.owl temporal lobe neoplasm|malignant neoplasm of temporal lobe|temporal lobe cancer|malignant temporal lobe neoplasm|cancer of temporal lobe ICD10:C71.2|SCTID:363468009|ICD9:191.2|DOID:2135|UMLS:C0153636 owl:Class CL:0002111 biolink:NamedThing CD38-negative unswitched memory B cell An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl CD38-negative unswitched memory B-cell|CD38- unswitched memory B-cell|CD38-negative unswitched memory B-lymphocyte|CD38-negative unswitched memory B lymphocyte|CD38- unswitched memory B lymphocyte|CD38- unswitched memory B-lymphocyte|CD38- unswitched memory B cell cell owl:Class MONDO:0007645 biolink:NamedThing gastric sneezing tmpak2llvmy_mondo_relaxed.owl gastric sneezing|stomach sneeze reflex UMLS:C1850930|OMIM:137130|MESH:C564990 owl:Class UBERON:0006675 biolink:NamedThing venous valve A valve that is part of a vein. tmpak2llvmy_mondo_relaxed.owl valve of vein owl:Class CHEBI:37326 biolink:NamedThing benzo[g]pteridine-2,4-dione tmpak2llvmy_mondo_relaxed.owl benzo[g]pteridine-2,4-dione owl:Class CHEBI:38925 biolink:NamedThing benzopteridine tmpak2llvmy_mondo_relaxed.owl benzopteridines owl:Class MONDO:0019914 biolink:NamedThing maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(9)mat|maternal uniparental disomy of chromosome type 9 Orphanet:96183|SCTID:766240006|ICD10:Q99.8 owl:Class MONDO:0006965 biolink:NamedThing secondary hypertrophic osteoarthropathy Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]|Marie Bamberger disease|Bamberger-Marie disease|hypertrophic pulmonary osteoarthropathy|HPOA - hypertrophic pulmonary osteoarthropathy SCTID:203357004|ICD10:M89.4|MESH:D010005|UMLS:C0029412|EFO:1001174|DOID:10393|ICD9:731.2 owl:Class FOODON:03420194 biolink:NamedThing egg or egg component Poultry, game bird or turtle eggs. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014738 biolink:NamedThing autosomal dominant nonsyndromic deafness 69 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene. tmpak2llvmy_mondo_relaxed.owl DFNA69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|DCUA|deafness, congenital, unilateral or asymmetric|autosomal dominant nonsyndromic deafness type 69|autosomal dominant deafness 69|deafness, autosomal dominant 69|unilateral or asymmetric congenital deafness|KITLG autosomal dominant nonsyndromic deafness ICD10:H90.3|DOID:0110590|OMIM:616697|UMLS:C4225241 owl:Class MONDO:0011154 biolink:NamedThing acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. tmpak2llvmy_mondo_relaxed.owl AFD- Palagonia type|acrofacial dysostosis Palagonia type|acrofacial dysostosis, Palagonia type|Palagonia type of acrofacial dysostosis|PAFD|Palagonia form of AFD|acrofacial dysostosis, Patagonia type ICD10:Q75.4|UMLS:C1866168|OMIM:601829|SCTID:720429007|MESH:C538185|DOID:0060385|GARD:0000499|Orphanet:1787 owl:Class UBERON:0001763 biolink:NamedThing odontogenic papilla A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. tmpak2llvmy_mondo_relaxed.owl dental papilla|pharyngeal tooth mesenchyme|papilla dentis|odontogenic condensation|dentinal papilla|dermal papilla|tooth mesenchyme owl:Class MONDO:0007471 biolink:NamedThing Doyne honeycomb retinal dystrophy Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. tmpak2llvmy_mondo_relaxed.owl Malattia leventinese|dominant drusen|drusen, radial, autosomal dominant|dominant radial drusen|familial drusen|Doyne honeycomb retinal dystrophy|Doyne honeycomb degeneration of retina|DHRD|DHD OMIM:126600|SCTID:193411004|GARD:0001912|UMLS:C1832174|UMLS:CN205694|DOID:0060745|ICD10:H35.5|Orphanet:75376|UMLS:C1852020 https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy owl:Class MONDO:0020245 biolink:NamedThing disease predisposing to age-related macular degeneration tmpak2llvmy_mondo_relaxed.owl UMLS:CN207066|Orphanet:98667 owl:Class MONDO:0009750 biolink:NamedThing neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive|Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive OMIM:256855|UMLS:C1850385|MESH:C564947 owl:Class MONDO:0012957 biolink:NamedThing multiple sclerosis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl MS3|multiple sclerosis, susceptibility to, 3 OMIM:612595 owl:Class MONDO:0011611 biolink:NamedThing short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting tmpak2llvmy_mondo_relaxed.owl short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting OMIM:605856|MESH:C566989|UMLS:C1970039 owl:Class MONDO:0044926 biolink:NamedThing oropharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharyngeal cancer|oropharynx carcinoma|oropharyngeal carcinoma|carcinoma of the oropharynx|cancer of oropharynx|oropharyngeal throat cancer|carcinoma of oropharynx|cancer of the oropharynx NCIT:C9105 owl:Class MONDO:0021345 biolink:NamedThing carcinoma of pharynx A carcinoma that involves the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal carcinoma|carcinoma of pharynx|pharynx carcinoma|carcinoma of the pharynx|cancer of the pharynx|pharyngeal throat cancer SCTID:449254004|NCIT:C9466 owl:Class UBERON:0002182 biolink:NamedThing main bronchus One of two branches of the trachea. tmpak2llvmy_mondo_relaxed.owl mainstem bronchus|major bronchus|principal bronchus|bronchus principalis|primary bronchus|extrapulmonary bronchus|proximal bronchus owl:Class ENVO:09200008 biolink:NamedThing composition of soil The composition of some soil. tmpak2llvmy_mondo_relaxed.owl soil composition owl:Class ENVO:09200009 biolink:NamedThing structure of soil The structure of some soil. tmpak2llvmy_mondo_relaxed.owl soil structure owl:Class GO:1903828 biolink:NamedThing negative regulation of cellular protein localization Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpak2llvmy_mondo_relaxed.owl down-regulation of channel localizer activity|negative regulation of cellular protein localisation|downregulation of cellular protein localisation|down-regulation of cellular protein localisation|down regulation of cellular protein localization|downregulation of cellular protein localization|negative regulation of channel localizer activity|inhibition of cellular protein localisation|inhibition of channel localizer activity|down regulation of cellular protein localisation|inhibition of cellular protein localization|down-regulation of cellular protein localization|down regulation of channel localizer activity|downregulation of channel localizer activity owl:Class MONDO:0003172 biolink:NamedThing glomeruloid hemangioma tmpak2llvmy_mondo_relaxed.owl NCIT:C27505|DOID:486|UMLS:C1304511|SCTID:403976007 owl:Class MONDO:0014545 biolink:NamedThing progressive myoclonic epilepsy type 8 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. tmpak2llvmy_mondo_relaxed.owl progressive myoclonic epilepsy caused by mutation in CERS1|PME type 8|epilepsy, progressive myoclonic, type 8|CERS1 progressive myoclonic epilepsy|EPM8|epilepsy, progressive myoclonic, 8|progressive myoclonic epilepsy due to CERS1 deficiency|progressive myoclonus epilepsy type 8 Orphanet:424027|UMLS:C4015619|ICD10:G40.3|DOID:0111451|OMIM:616230 owl:Class MONDO:0000814 biolink:NamedThing B-cell adult acute lymphocytic leukemia An acute B-lymphoblastic leukemia occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult B-cell ALL|adult B cell acute lymphocytic leukemia|adult B-cell childhood acute lymphoblastic leukemia|B cell adult acute lymphoblastic leukemia|adult B-cell acute lymphoblastic leukemia|adult B-cell lymphocytic leukemia|adult B-lymphoblastic leukemia|B acute lymphoblastic leukemia|adult B cell ALL|B-cell adult ALL|adult B cell acute lymphoblastic leukemia|adult B-cell acute lymphocytic leukemia|B-cell adult acute lymphoblastic leukemia|B cell adult ALL|adult B acute lymphoblastic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|adult precursor B-lymphoblastic leukemia|B cell adult acute lymphocytic leukemia UMLS:C0279593|EFO:1001935|DOID:0060592|NCIT:C9143 owl:Class MONDO:0003660 biolink:NamedThing adult lymphoma A lymphoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult lymphoma|lymphoma of adults|lymphoma UMLS:C1332206|NCIT:C7587|DOID:5825 owl:Class ENVO:01001216 biolink:NamedThing ultraviolet stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm. tmpak2llvmy_mondo_relaxed.owl ultraviolet solar radiation owl:Class ENVO:21001216 biolink:NamedThing ultraviolet radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm. tmpak2llvmy_mondo_relaxed.owl UV radiation owl:Class MONDO:0004007 biolink:NamedThing breast intraductal proliferative lesion A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. tmpak2llvmy_mondo_relaxed.owl mammary intraepithelial neoplasia, ductal type|DIN|intraductal proliferative lesion|ductal intraepithelial neoplasia|intraductal proliferative lesion of the breast DOID:6839|NCIT:C27942|UMLS:C1334631 owl:Class GO:0051656 biolink:NamedThing establishment of organelle localization The directed movement of an organelle to a specific location. tmpak2llvmy_mondo_relaxed.owl establishment of organelle localisation owl:Class GO:0051234 biolink:NamedThing establishment of localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpak2llvmy_mondo_relaxed.owl establishment of localisation owl:Class MONDO:0006354 biolink:NamedThing parathyroid hyperplasia A hyperplasia that involves the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl hyperplasia of the parathyroid|parathyroid hyperplasia (disease)|parathyroid hyperplasia|parathyroid gland hyperplasia|hyperplasia of parathyroid parathyroid hyperplasia (disease) NCIT:C3989|SCTID:9092004|UMLS:C0271844|HP:0008208|EFO:1000457 owl:Class MONDO:0014858 biolink:NamedThing intellectual disability, autosomal dominant 43 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 43|HIVEP2-related intellectual disability|mental retardation, autosomal dominant type 43|mental retardation, autosomal dominant 43|intellectual disability, autosomal dominant type 43|autosomal dominant non-syndromic intellectual disability 43|autosomal dominant intellectual disability-43|HIVEP2 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 43|intellectual disability, autosomal dominant 43|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|MRD43 SCTID:765434008|DOID:0070073|GARD:0013179|UMLS:C4310771|OMIM:616977 owl:Class GO:0080154 biolink:NamedThing regulation of fertilization Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000241 biolink:NamedThing regulation of reproductive process Any process that modulates the frequency, rate or extent of reproductive process. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0008373 biolink:NamedThing Puberty and gonadal disorders tmpak2llvmy_mondo_relaxed.owl Puberty and gonadal disorders UMLS:C4024685 peter 2008-04-04T12:35:00Z HP:0000827 human_phenotype owl:Class HP:0000818 biolink:NamedThing Abnormality of the endocrine system An abnormality of the endocrine system. tmpak2llvmy_mondo_relaxed.owl Endocrine system disease MSH:D004700|UMLS:C0014130|SNOMEDCT_US:362969004|UMLS:C4025823 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. human_phenotype owl:Class CL:0010004 biolink:NamedThing mononuclear cell of bone marrow A mononuclear cell that is part_of a bone marrow. tmpak2llvmy_mondo_relaxed.owl bone marrow mononuclear cell GOC:cjm owl:Class HGNC:26267 biolink:NamedThing POMK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003248 biolink:NamedThing adult pineal parenchymal tumor A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults. tmpak2llvmy_mondo_relaxed.owl parenchymal neoplasm of adult pineal gland|parenchymal tumor of the adult pineal gland|adult pineal gland tumor|parenchymal tumor of adult pineal gland|adult pineal parenchymal cell neoplasm|pineal parenchymal cell tumor|adult pineal parenchymal cell tumor|pineal parenchymal cell neoplasm of adults|adult pineal parenchymal tumor|adult pineal gland neoplasm|adult pineal parenchymal neoplasm|parenchymal neoplasm of the adult pineal gland UMLS:C0280794|NCIT:C8273|DOID:5031 owl:Class MONDO:0024890 biolink:NamedThing pineal parenchymal cell neoplasm A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) tmpak2llvmy_mondo_relaxed.owl pineal gland neoplasm|neoplasm of the pineal gland|pineal parenchymal cell tumor|neoplasm of pineal gland|pineal gland tumor|pineocytic tumor|pineal parenchymal neoplasm|tumor of pineal gland|pineal parenchymal tumor|tumor of the pineal gland|pineal parenchymal cell neoplasm|pineocytic neoplasm UMLS:C0031941|ICDO:9360/1|NCIT:C6965 owl:Class UBERON:0007238 biolink:NamedThing 1st arch maxillary component tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006119 biolink:NamedThing oxidative phosphorylation The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpak2llvmy_mondo_relaxed.owl respiratory-chain phosphorylation owl:Class MONDO:0007634 biolink:NamedThing intellectual disability, FRA12A type tmpak2llvmy_mondo_relaxed.owl mental retardation, FRA12A type|intellectual disability, FRA12A type UMLS:C1969893|OMIM:136630|MESH:C566980 owl:Class UBERON:0003558 biolink:NamedThing diencephalon arachnoid mater An arachnoid mater that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl diencephalon arachnoid mater of neuraxis|arachnoid mater of interbrain|interbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of diencephalon|arachnoid of between brain|arachnoid of diencephalon|between brain arachnoid|arachnoid mater of between brain|arachnoid of interbrain|arachnoid mater of diencephalon|mature diencephalon arachnoid mater of neuraxis|arachnoid mater of neuraxis of mature diencephalon|between brain arachnoid mater of neuraxis|arachnoid mater of mature diencephalon|arachnoid mater of neuraxis of interbrain|mature diencephalon arachnoid mater|diencephalon arachnoid|arachnoid mater of neuraxis of between brain|mature diencephalon arachnoid|between brain arachnoid mater|interbrain arachnoid|interbrain arachnoid mater|arachnoid of mature diencephalon owl:Class UBERON:0002362 biolink:NamedThing arachnoid mater A think avascular meningeal layer, between the pia mater and the dural mater. It is separated from the pia mater by the subarachnoid space. tmpak2llvmy_mondo_relaxed.owl arachnoid|arachnoidea mater|arachnoid mater of neuraxis|arachnoid membrane owl:Class MONDO:0018794 biolink:NamedThing cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder tmpak2llvmy_mondo_relaxed.owl Phospholipase A2, Group Iva, Deficiency of|GURDP|platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS|PLA2G4A-related platelet dysfunction|cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder OMIM:618372|Orphanet:477787|UMLS:CN776897 owl:Class MONDO:0020468 biolink:NamedThing paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(13)pat|paternal uniparental disomy of chromosome type 13 Orphanet:99324|ICD10:Q99.8 owl:Class UBERON:0004319 biolink:NamedThing distal phalanx of pedal digit 5 A distal phalanx that is part of a foot digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal phalanx of foot digit 5|distal phalanx of the 5th toe|distal phalanx of fifth toe|distal phalanx of fifth digit of foot|distal phalanx of 5th toe|fifth distal phalanx of foot|distal phalanx of pedal digit V|distal phalanx of little toe|foot digit 5 distal phalanx|5th toe distal phalanx owl:Class MONDO:0030025 biolink:NamedThing neurodevelopmental disorder with hypotonia, microcephaly, and seizures tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES|NEDHYMS OMIM:618862 owl:Class MONDO:0004349 biolink:NamedThing retina lymphoma A lymphoma that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina lymphoma|retinal lymphoma|lymphoma of retina|primary retinal lymphoma|lymphoma of the retina DOID:774|SCTID:232075002|ICD9:198.4|UMLS:C0339556|NCIT:C4365 owl:Class HP:0012780 biolink:NamedThing Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. tmpak2llvmy_mondo_relaxed.owl Ear tumour|Ear tumor UMLS:C0013449|NCIT:C3262|SNOMEDCT_US:363228008|MSH:D004428 peter 2014-04-07T06:11:56Z human_phenotype owl:Class HP:0031703 biolink:NamedThing Abnormal ear morphology Any structural anomaly of the ear. tmpak2llvmy_mondo_relaxed.owl 2017-12-18 00:20:14+00:00 Fyler:4867 peter human_phenotype owl:Class MONDO:0002852 biolink:NamedThing mediastinum sarcoma A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl mediastinum sarcoma|mediastinal sarcoma|sarcoma of the mediastinum|sarcoma of mediastinum UMLS:C1334678|NCIT:C6606|DOID:4050 owl:Class MONDO:0009652 biolink:NamedThing mucolipidosis type III gamma Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. tmpak2llvmy_mondo_relaxed.owl mucolipidosis III, complementation group C|ML 3 gamma|mucolipidosis 3 gamma|ML III gamma|mucolipidosis type 3 gamma|mucolipidosis III, Iranian variant form|mucolipidosis 3C|ML 3C|mucolipidosis III gamma|mucolipidosis III, variant form UMLS:C1854896|NCIT:C129978|Orphanet:423470|OMIM:252605|MESH:C565367|ICD10:E77.0 owl:Class MONDO:0019248 biolink:NamedThing mucolipidosis A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. tmpak2llvmy_mondo_relaxed.owl UMLS:C0026697|SCTID:70528007|NCIT:C61267|MESH:D009081|DOID:0080488|Orphanet:79212 owl:Class UBERON:0002037 biolink:NamedThing cerebellum Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. tmpak2llvmy_mondo_relaxed.owl corpus cerebelli|infratentorial region|epencephalon-1|parencephalon owl:Class MONDO:0003902 biolink:NamedThing brain stem hemangioblastoma A hemangioblastoma that involves the brainstem. tmpak2llvmy_mondo_relaxed.owl hemangioblastoma of brain stem|angioblastoma of brain stem|angioblastoma of the brainstem|angioblastoma of the brain stem|brain stem angioblastoma|brain stem capillary hemangioblastoma|brainstem hemangioblastoma|hemangioblastoma of the brain stem|angioblastoma of brainstem|hemangioblastoma of brainstem|hemangioblastoma of the brainstem|brainstem angioblastoma|brain stem hemangioblastoma NCIT:C5147|UMLS:C1332611|DOID:6501 owl:Class MONDO:0016748 biolink:NamedThing hemangioblastoma Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. tmpak2llvmy_mondo_relaxed.owl capillary hemangioblastoma|angioblastoma|HMBL|hemangioblastoma MESH:D018325|UMLS:C0206734|NCIT:C3801|ICD10:D33.7|MedDRA:10018813|GARD:0008232|Orphanet:252054|ICDO:9161/1|ICD10:D33.4|DOID:5241|ONCOTREE:HMBL owl:Class MONDO:0003445 biolink:NamedThing extrahepatic bile duct adenoma An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct adenoma|adenoma of the extrahepatic bile duct|adenoma of extrahepatic bile duct DOID:5438|NCIT:C5857|UMLS:C1331534 owl:Class MONDO:0006108 biolink:NamedThing bile duct adenoma A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. tmpak2llvmy_mondo_relaxed.owl CHOLANGIOMA, benign|Cholangioma|Cholangioadenoma|Hepatocholangiocellular adenoma|bile duct adenoma (morphologic abnormality)|adenoma of bile duct|adenoma of the bile duct|Hepatocholangioma|bile duct adenoma UMLS:C0008309|ICDO:8160/0|MESH:D002759|DOID:5381|NCIT:C2942|EFO:1000123|SCTID:424091006 owl:Class MONDO:0016617 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies tmpak2llvmy_mondo_relaxed.owl polyarthritis without rheumatoid factor with anti-nuclear antibodies|rheumatoid factor-negative JIA with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Orphanet:247854|ICD10:M08.3 owl:Class MONDO:0019432 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. tmpak2llvmy_mondo_relaxed.owl juvenile rheumatoid factor-negative polyarthritis|rheumatoid factor-negative JIA|polyarthritis without rheumatoid factor ICD10:M08.3|Orphanet:85408 owl:Class MONDO:0009142 biolink:NamedThing dystonia with Ringbinden tmpak2llvmy_mondo_relaxed.owl dystonia with Ringbinden UMLS:C1857089|MESH:C565608|OMIM:224550 owl:Class ECTO:0000738 biolink:NamedThing exposure to ligand An exposure to ligand. tmpak2llvmy_mondo_relaxed.owl exposure to ligand owl:Class MONDO:0002779 biolink:NamedThing central nervous system chondroma An extraskeletal chondroma usually arising from the dura. tmpak2llvmy_mondo_relaxed.owl central nervous system chondroma|chondroma of central nervous system|chondroma of CNS|osteochondroma of the CNS|CNS chondroma|osteochondroma of central nervous system|osteochondroma of CNS|central nervous system osteochondroma|chondroma of the CNS|CNS osteochondroma|osteochondroma of the central nervous system|chondroma of the central nervous system UMLS:C1333019|DOID:3813|NCIT:C7001 owl:Class MONDO:0045068 biolink:NamedThing minor salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of the minor salivary gland|adenoid cystic carcinoma of minor salivary gland|minor salivary gland adenoid cystic carcinoma UMLS:C1334769|NCIT:C5936 owl:Class MONDO:0011878 biolink:NamedThing Worth syndrome A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate. tmpak2llvmy_mondo_relaxed.owl autosomal dominant endosteal hyperostosis|Worth's syndrome|benign form of Worth hyperostosis corticalis generalisata with torus platinus|VBCH2|osteosclerosis of the skull and enlarged mandible|Van Buchem disease, type 2|autosomal dominant osteosclerosis|Van Buchem disease type 2 OMIM:607636|DOID:0080037|SCTID:254131007|GARD:0009488 owl:Class GO:1903507 biolink:NamedThing negative regulation of nucleic acid-templated transcription Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription. tmpak2llvmy_mondo_relaxed.owl inhibition of nucleic acid-templated transcription|downregulation of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|down-regulation of nucleic acid-templated transcription owl:Class MONDO:0013171 biolink:NamedThing purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. tmpak2llvmy_mondo_relaxed.owl purine-nucleoside phosphorylase deficiency|deficiency of inosine phosphorylase|purine nucleoside phosphorylase deficiency|nucleoside phosphorylase deficiency|PNPase deficiency|PNP deficiency OMIM:613179|SCTID:60743005|MESH:C562587|UMLS:C0268125|HGNC:7892|Orphanet:760|DOID:5813|ICD9:277.2|GARD:0004606|NCIT:C3963|ICD10:D81.5 https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency owl:Class GO:0050867 biolink:NamedThing positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. tmpak2llvmy_mondo_relaxed.owl up regulation of cell activation|stimulation of cell activation|activation of cell activation|up-regulation of cell activation|upregulation of cell activation owl:Class MONDO:0005626 biolink:NamedThing epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. tmpak2llvmy_mondo_relaxed.owl epithelioma|epithelial neoplasm SCTID:118285006|EFO:0006858|MESH:D009375|NCIT:C3709 owl:Class UBERON:0006219 biolink:NamedThing deltoid pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002503 biolink:NamedThing adult astrocytic tumour An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. tmpak2llvmy_mondo_relaxed.owl astrocytic tumor|adult astrocytoma|adult astrocytic tumor|adult astrocytic neoplasm DOID:3076|NCIT:C7049|UMLS:C1332183 owl:Class MONDO:0021636 biolink:NamedThing astrocytic tumor A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. tmpak2llvmy_mondo_relaxed.owl astrocytoma of cerebrum|astrocytic tumor|astroglioma|astrocytoma of brain|astrocytic neoplasm|astrocytoma, no ICD-O subtype|astrocytoma MedDRA:10003571|Orphanet:94|NCIT:C6958|DOID:3069|EFO:0000272 This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class MONDO:0007507 biolink:NamedThing absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl absence of dermatoglyphics congenital milia|absence of fingerprints congenital milia|ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|Basan syndrome|absence of dermatoglyphics-congenital milia syndrome|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities|Baird syndrome Orphanet:1658|MESH:C537659|SCTID:239011004|GARD:0002336|OMIM:129200|ICD10:Q82.8 https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia owl:Class MONDO:0004074 biolink:NamedThing ovarian mucinous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian mucinous cystadenofibroma UMLS:C1518725|NCIT:C40041|DOID:7013 owl:Class MONDO:0003887 biolink:NamedThing ovarian mucinous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian mucinous adenofibroma|ovary mucinous adenofibroma|mucinous adenofibroma of ovary UMLS:C1518723|NCIT:C40040|DOID:6469 owl:Class UBERON:0012314 biolink:NamedThing embryonic facial prominence One of five swellings formed during the development of the face tmpak2llvmy_mondo_relaxed.owl primordium of face|facial primordium|embryonic facial process owl:Class MONDO:0100288 biolink:NamedThing enhanced S-cone syndrome An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. tmpak2llvmy_mondo_relaxed.owl retinoschisis with early nyctalopia|ESCS|enhanced S-cone syndrome DOID:0090059|ICD10:H35.5|UMLS:C1849394|OMIM:268100|MESH:C564835 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0001182 biolink:NamedThing superior mesenteric artery Mesenteric artery that supplies the whole length of the small intestine except the superior part of the duodenum. It also supplies the cecum and the ascending part of the colon and about half the transverse part of the colon. It arises from the anterior surface of the aorta below the celiac artery at the level of the first lumbar vertebra. tmpak2llvmy_mondo_relaxed.owl superior mesenteric arterial tree|arteria mesenterica superior owl:Class UBERON:0005616 biolink:NamedThing mesenteric artery Arteries which arise from the abdominal aorta and distribute to most of the intestines. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010644 biolink:NamedThing proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis tmpak2llvmy_mondo_relaxed.owl proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis OMIM:308990|UMLS:C1839874 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations owl:Class GO:0045650 biolink:NamedThing negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of macrophage differentiation|down-regulation of macrophage differentiation|down regulation of macrophage differentiation|downregulation of macrophage differentiation owl:Class MONDO:0023015 biolink:NamedThing duodenal atresia tetralogy of fallot tmpak2llvmy_mondo_relaxed.owl GARD:0001919 https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot owl:Class UBERON:0004880 biolink:NamedThing chordamesoderm The central region of trunk mesoderm. This tissue forms the notochord tmpak2llvmy_mondo_relaxed.owl axial chorda mesoderm|presumptive notochord|chorda mesoderm|dorsal mesoderm owl:Class MONDO:0024623 biolink:NamedThing otorhinolaryngologic disease Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. tmpak2llvmy_mondo_relaxed.owl ear, nose and throat disorder|ear/nose/throat disease|otorhinolaryngological disease|diseases, otorhinolaryngologic|diseases, ENT|diseases, otorhinolaryngological|disease, otolaryngologic|disease, otorhinolaryngologic|otolaryngological disease|otolaryngological diseases|diseases, otolaryngologic|otolaryngologic disease|disease, ENT|ENT diseases|otorhinolaryngological diseases|diseases, otolaryngological|otolaryngologic diseases|ear, nose or throat disorder|otorhinolaryngologic disease|ENT disease|otolaryngologic disorder|disease, otolaryngological|disease, otorhinolaryngological UMLS:C0029896|SCTID:232208008|ICD9:478.19|MESH:D010038|UMLS:C0395797|NCIT:C118420 Editor note: consider uberon class owl:Class UBERON:0003389 biolink:NamedThing mesothelium of diaphragm A mesothelium that is part of a diaphragm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl diaphragm mesothelium|meso-epithelium of thoracic diaphragm|diaphragm meso-epithelium|mesothelium of thoracic diaphragm|thoracic diaphragm meso-epithelium|thoracic diaphragm mesothelium|meso-epithelium of diaphragm owl:Class GO:0031641 biolink:NamedThing regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051960 biolink:NamedThing regulation of nervous system development Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000983 biolink:NamedThing exhibitionism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. tmpak2llvmy_mondo_relaxed.owl MESH:D005084|NCIT:C94352|SCTID:58349009|ICD9:302.4|ICD10:F65.2|DOID:10236 owl:Class MONDO:0000596 biolink:NamedThing paraphilic disorder Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) tmpak2llvmy_mondo_relaxed.owl disorders, Paraphilic|disorder, Paraphilic|paraphilia disorder|paraphilic disorder|Sex deviation|paraphilia|deviation, Sex|disorder of sexual preference|Sex Deviations|Deviations, Sex|Paraphilias DOID:0060044|SCTID:50299009|MESH:D010262 owl:Class MONDO:0011311 biolink:NamedThing glaucoma 1, open angle, F tmpak2llvmy_mondo_relaxed.owl glaucoma 1, open angle, F|glaucoma 1, open angle, type F|GLC1F|glaucoma, primary open angle, adult-onset OMIM:603383|MESH:C566383 owl:Class GO:1905903 biolink:NamedThing negative regulation of mesoderm formation Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation. tmpak2llvmy_mondo_relaxed.owl down regulation of mesoderm formation|down-regulation of mesoderm formation|downregulation of mesoderm formation|inhibition of mesoderm formation owl:Class GO:1905902 biolink:NamedThing regulation of mesoderm formation Any process that modulates the frequency, rate or extent of mesoderm formation. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006817 biolink:NamedThing Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. tmpak2llvmy_mondo_relaxed.owl Cerebellar vermis aplasia or hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia UMLS:C1855676|UMLS:C3280770 HP:0007080|HP:0005690 human_phenotype owl:Class MONDO:0006069 biolink:NamedThing ACTH-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. tmpak2llvmy_mondo_relaxed.owl malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant ACTH producing tumor of pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant ACTH secreting tumor of pituitary gland|malignant Corticotropinoma of the pituitary|malignant ACTH producing tumor of the pituitary gland|malignant ACTH producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing pituitary neoplasm|malignant Corticotropinoma of pituitary|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary|malignant pituitary Corticotropinoma|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary|malignant adrenocorticotropin secreting pituitary neoplasm|malignant ACTH secreting neoplasm of pituitary gland|malignant ACTH secreting tumor of pituitary|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant ACTH secreting pituitary tumor|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin producing pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin producing tumor of the pituitary|malignant adrenocorticotropin producing pituitary tumor|malignant ACTH producing neoplasm of pituitary gland|malignant ACTH secreting pituitary gland tumor|malignant ACTH producing pituitary gland tumor|malignant adrenocorticotropin secreting pituitary gland neoplasm|ACTH producing pituitary gland carcinoma|malignant pituitary gland Corticotropinoma|malignant Corticotropinoma of pituitary gland|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH secreting tumor of the pituitary|malignant ACTH producing neoplasm of pituitary|malignant ACTH producing pituitary neoplasm|malignant ACTH producing pituitary gland neoplasm|malignant ACTH secreting pituitary neoplasm|malignant ACTH producing neoplasm of the pituitary|malignant adrenocorticotropin producing tumor of pituitary gland|malignant adrenocorticotropin producing tumor of pituitary|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin producing pituitary gland neoplasm NCIT:C5964|UMLS:C1334556|DOID:6276|EFO:1000067 owl:Class MONDO:0015540 biolink:NamedThing hemophagocytic syndrome Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). tmpak2llvmy_mondo_relaxed.owl hemophagocytic syndrome|hemophagocytic disorder|FHL|familial hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis|HLH|haemophagocytic syndrome|familial erythrophagocytic lymphohistiocytosis|familial histiocytic reticulosis ICD10:D76.1|ICD9:288.8|SCTID:234437005|MedDRA:10058125|UMLS:C3887558|UMLS:C0024291|NCIT:C34792|Orphanet:158032|NCIT:C35439|DOID:0050120|GARD:0006589 Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis owl:Class HP:0001804 biolink:NamedThing Hypoplastic fingernail Underdevelopment of a fingernail. tmpak2llvmy_mondo_relaxed.owl Underdeveloped fingernail|Small fingernail UMLS:C1856786 human_phenotype owl:Class UBERON:0004643 biolink:NamedThing lateral ventricle ependyma An ependyma that is part of a lateral ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ependyma of lateral ventricle owl:Class UBERON:0004670 biolink:NamedThing ependyma The thin epithelium-like membrane composed of ependymal cells that lines the ventricular system of the brain and the spinal cord. tmpak2llvmy_mondo_relaxed.owl ependymal epithelium|ependyma of neuraxis|lamina epithelialis owl:Class UBERON:0010333 biolink:NamedThing extraembryonic membrane mesenchyme Mesenchyme that is part of a extraembryonic membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012384 biolink:NamedThing Rhinitis Inflammation of the nasal mucosa with nasal congestion. tmpak2llvmy_mondo_relaxed.owl Nasal inflammation UMLS:C2718128|MSH:D012220|UMLS:C0035455|SNOMEDCT_US:70076002 hecht 2013-10-19T05:37:08Z human_phenotype owl:Class HP:0000366 biolink:NamedThing Abnormality of the nose An abnormality of the nose. tmpak2llvmy_mondo_relaxed.owl Malformation of the nose|Nasal abnormality|Nasal deformity|Deformity of the nose|Nasal anomaly|Abnormality of the nose|Nasal malformation|Anomaly of the nose UMLS:C0240547|UMLS:C0265736|UMLS:C2235909|SNOMEDCT_US:72089000|SNOMEDCT_US:128274005 human_phenotype owl:Class MONDO:0023073 biolink:NamedThing eosinophilic cryptitis Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications. tmpak2llvmy_mondo_relaxed.owl eosinophilic cystitis ICD9:595.89|GARD:0006347|UMLS:C0742965|GARD:0006346|SCTID:445918001 https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis|https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis owl:Class MONDO:0006032 biolink:NamedThing cystitis Inflammation of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder infection|inflammation of urinary bladder|urinary bladder inflammation UMLS:C0010692|ICD9:595|DOID:1679|ICD10:N30.9|ICD9:595.89|MESH:D003556|SCTID:38822007|ICD10:N30|NCIT:C26738|ICD9:595.9|EFO:1000025 owl:Class MONDO:0032868 biolink:NamedThing lessel-kubisch syndrome tmpak2llvmy_mondo_relaxed.owl LSKB|LESSEL-KUBISCH SYNDROME OMIM:618681 owl:Class HGNC:14341 biolink:NamedThing EDARADD tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:106179 biolink:NamedThing phagocytophilum group tmpak2llvmy_mondo_relaxed.owl phagocytophila group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:768 biolink:NamedThing Anaplasma tmpak2llvmy_mondo_relaxed.owl PMID:11760958|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006137 biolink:NamedThing cervical intraepithelial neoplasia grade 2/3 A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia. tmpak2llvmy_mondo_relaxed.owl CIN 2/3 EFO:1000166|NCIT:C94676|UMLS:C2986622 owl:Class MONDO:0022394 biolink:NamedThing cervical intraepithelial neoplasia tmpak2llvmy_mondo_relaxed.owl Cervical Intraepithelial Neoplasms|Intraepithelial Neoplasia, Cervical|Neoplasia, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Intraepithelial Neoplasm, Cervical|Cervix Uteri Intraepithelial Neoplasia|Intraepithelial Neoplasia of Uterine Cervix|Uterine Cervix Intraepithelial Neoplasia|Cervical Intraepithelial Neoplasia|Cervical Dysplasia|NEOPL CERVICAL INTRAEPITHELIAL|Intraepithelial Neoplasia of the Cervix Uteri|Cervical Intraepithelial Neoplasm|Neoplasms, Cervical Intraepithelial|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Cervix|Neoplasm, Cervical Intraepithelial|Cervical intraepithelial neoplasia|Intraepithelial Neoplasia of Cervix Uteri|Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasia of the Uterine Cervix UMLS:C0206708|SCTID:285636001|MEDGEN:60214|GARD:0009244 owl:Class MONDO:0009320 biolink:NamedThing Hall-Riggs syndrome Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. tmpak2llvmy_mondo_relaxed.owl HALL-Riggs mental retardation syndrome|Hall Riggs mental retardation syndrome|HALL-Riggs intellectual disability syndrome|Hall Riggs intellectual disability syndrome OMIM:234250|ICD10:Q87.8|GARD:0002586|MESH:C535623|SCTID:721008000|UMLS:C1856198|Orphanet:2107 owl:Class MONDO:0001899 biolink:NamedThing rheumatic congestive heart failure tmpak2llvmy_mondo_relaxed.owl rheumatic heart failure|rheumatic heart failure (congestive)|congestive rheumatic heart failure SCTID:82523003|ICD10:I09.81|UMLS:C0155582|ICD9:398.91|DOID:14172 owl:Class MONDO:0006955 biolink:NamedThing rheumatic heart disease An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. tmpak2llvmy_mondo_relaxed.owl disease, rheumatic heart|heart disease, rheumatic|RHD|rheumatic carditis ICD9:398.99|ICD9:398.90|SCTID:23685000|MedDRA:10062110|NCIT:C34882|MESH:D012214|EFO:1001161|DOID:0050827|ICD10:I05.I09 owl:Class HGNC:2022 biolink:NamedThing CLCN4 tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000023 biolink:NamedThing role A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000017 biolink:NamedThing realizable entity A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. tmpak2llvmy_mondo_relaxed.owl RealizableEntity realizable To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) the role of being a doctor|the disposition of this piece of metal to conduct electricity.|the function of your reproductive organs|the role of this boundary to delineate where Utah and Colorado meet|the disposition of your blood to coagulate (forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] |(forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) owl:Class MONDO:0016835 biolink:NamedThing 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. tmpak2llvmy_mondo_relaxed.owl dup(14)(q11.2)|trisomy 14q11.2 Orphanet:261229|ICD10:Q92.3|UMLS:CN202171 owl:Class MONDO:0001116 biolink:NamedThing mesenteric lymphadenitis Inflammation of the mesenteric lymph nodes. tmpak2llvmy_mondo_relaxed.owl mesenteric lymphadenitis|lymphadenitis (disease) of mesentery|mesentery lymphadenitis (disease)|mesenteric adenitis SCTID:44897000|MESH:D008640|UMLS:C0025469|DOID:10782|NCIT:C26830|ICD10:I88.0|ICD9:289.2 owl:Class HGNC:4888 biolink:NamedThing CFHR1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000311 biolink:NamedThing adipocyte of epicardial fat of left ventricle A fat cell that is part of the epicardial fat of left ventricle. tmpak2llvmy_mondo_relaxed.owl epicardial adipocyte of left ventricle|epicardial fat cell of left ventricle FMA:261300 cell owl:Class CL:1000309 biolink:NamedThing epicardial adipocyte A fat cell that is part of the epicardial fat. tmpak2llvmy_mondo_relaxed.owl epicardial fat cell|adipocyte of epicardial fat FMA:261293 cell owl:Class MONDO:0021851 biolink:NamedThing alopecia universalis onychodystrophy vitiligo A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun. tmpak2llvmy_mondo_relaxed.owl alopecia universalis, onychodystrophy, and total vitiligo MESH:C537056|UMLS:C2931408|GARD:0000615 https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo owl:Class UBERON:0005219 biolink:NamedThing hindbrain subarachnoid space A subarachnoid space that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl subarachnoid space rhombencephalon|subarachnoid space hindbrain owl:Class UBERON:0000315 biolink:NamedThing subarachnoid space The space between the arachnoid and pia mater. tmpak2llvmy_mondo_relaxed.owl cavum subarachnoideale|subarachnoid cavity|spatium leptomeningeum|spatium subarachnoideum|cavitas subarachnoidea owl:Class CHEBI:35555 biolink:NamedThing mancude organic heteromonocyclic parent tmpak2llvmy_mondo_relaxed.owl mancude organic heteromonocyclic parents|mancude-ring organic heteromonocyclic parents owl:Class CHEBI:35571 biolink:NamedThing mancude organic heterocyclic parent tmpak2llvmy_mondo_relaxed.owl mancude-ring organic heterocyclic parents|mancude organic heterocyclic parents owl:Class CL:0002339 biolink:NamedThing prostate stem cell A prostate epithelial cell that is CD133-positive, CD44-positive, integrin A2beta3-high. This cell is a stem cell for the prostate epithelium. tmpak2llvmy_mondo_relaxed.owl CD133-positive prostate epithelial cell tmeehan 2010-09-20T03:21:06Z cell owl:Class GO:0046885 biolink:NamedThing regulation of hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpak2llvmy_mondo_relaxed.owl regulation of hormone formation|regulation of hormone synthesis|regulation of hormone anabolism|regulation of hormone biosynthesis owl:Class UBERON:0013761 biolink:NamedThing cervical cavity The cavity formed by the walls of the cervix. tmpak2llvmy_mondo_relaxed.owl canal of the cervix|endocervical|cavity of cervix|endocervix|lumen of cervix of uterus|cervical canal of uterus|endocervical canal|cervical canal owl:Class HGNC:7715 biolink:NamedThing NDUFS8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005873 biolink:NamedThing neuroaspergillosis Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) tmpak2llvmy_mondo_relaxed.owl DOID:13565|UMLS:C0752342|EFO:0007393|MESH:D020953 owl:Class MONDO:0005657 biolink:NamedThing aspergillosis Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. tmpak2llvmy_mondo_relaxed.owl infection due to Aspergillus CSP:1988-4002|ICD10:B44.2|ICD10:B44.0|Orphanet:1163|ICD10:B44.7|ICD9:117.3|UMLS:C0004030|SCTID:65553006|ICD10:B44.1|MedDRA:10003488|MESH:D001228|GARD:0005856|ICD10:B44.8|ICD10:B44.9|ICD10:B44|EFO:0007157|DOID:13564|NCIT:C2886 https://rarediseases.info.nih.gov/diseases/5856/aspergillosis owl:Class GO:1905707 biolink:NamedThing negative regulation of mitochondrial ATP synthesis coupled proton transport Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032387 biolink:NamedThing negative regulation of intracellular transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. tmpak2llvmy_mondo_relaxed.owl down regulation of intracellular transport|downregulation of intracellular transport|inhibition of intracellular transport|down-regulation of intracellular transport owl:Class GO:0120035 biolink:NamedThing regulation of plasma membrane bounded cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009821 biolink:NamedThing lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. tmpak2llvmy_mondo_relaxed.owl RAINE syndrome|RNS|Raine syndrome|lethal osteosclerotic bone dysplasia|combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis|osteosclerotic bone dysplasia, lethal MESH:C535282|ICD10:Q78.2|GARD:0000282|UMLS:C1850106|OMIM:259775|Orphanet:1832 owl:Class OBO:CHR_9606-chr2q24 biolink:NamedThing chr2q24 (Human) tmpak2llvmy_mondo_relaxed.owl 168900000 154000000 hg38 owl:Class MONDO:0016838 biolink:NamedThing 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. tmpak2llvmy_mondo_relaxed.owl monosomy 16q24.3|chromosome 16q24.3 microdeletion syndrome|Del(16)(q24.3) GARD:0010935|UMLS:C4304594|ICD10:Q93.5|SCTID:719580004|Orphanet:261250|UMLS:CN202174 https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome owl:Class CHEBI:35519 biolink:NamedThing cholane tmpak2llvmy_mondo_relaxed.owl cholane owl:Class CHEBI:35508 biolink:NamedThing steroid fundamental parent tmpak2llvmy_mondo_relaxed.owl steroid fundamental parents owl:Class HGNC:3806 biolink:NamedThing FOXE1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:14321 biolink:NamedThing glutamate(1-) An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group tmpak2llvmy_mondo_relaxed.owl hydrogen glutamate|glutamic acid monoanion|glutamate(1-)|2-ammoniopentanedioate|glutamate owl:Class MONDO:0007899 biolink:NamedThing lichen sclerosus et atrophicus A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. tmpak2llvmy_mondo_relaxed.owl lichen sclerosis et atrophicus|lichen sclerosis|lichen sclerosus|lichen SCLEROSUS ET ATROPHICUS|LSA|lichen sclerosus et atrophicus MESH:D018459|OMIM:151590|NCIT:C26817|SCTID:25674000|GARD:0006905|UMLS:C0023652|ICD10:L90.0 owl:Class UBERON:0003556 biolink:NamedThing forebrain arachnoid mater An arachnoid mater that is part of a forebrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arachnoid of forebrain|arachnoid mater of neuraxis of forebrain|forebrain arachnoid mater of neuraxis|forebrain arachnoid|arachnoid mater of forebrain owl:Class UBERON:0003548 biolink:NamedThing forebrain meninges A meninx that is part of a forebrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forebrain meninx|meninx of forebrain|meninges of forebrain owl:Class CL:0002140 biolink:NamedThing acinar cell of sebaceous gland A sebum secreting cell of the skin that secretes sebum into the hair follicles. tmpak2llvmy_mondo_relaxed.owl sebocyte BTO:0004613|FMA:70953 tmeehan 2010-08-24T09:27:52Z CL:0002587 cell owl:Class CL:1000448 biolink:NamedThing epithelial cell of sweat gland An epithelial cell that is part of the sweat gland. tmpak2llvmy_mondo_relaxed.owl FMA:70952 cell owl:Class MONDO:0006559 biolink:NamedThing hidradenitis suppurativa A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. tmpak2llvmy_mondo_relaxed.owl acne inversa, familial|hidradenitis suppurativa|acne inversa MESH:D017497|DOID:2280|ICD10:L73.2|EFO:1000710|Wikipedia:Hidradenitis_suppurativa|UMLS:C0162836|GARD:0006658|SCTID:59393003 owl:Class MONDO:0002260 biolink:NamedThing hidradenitis An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. tmpak2llvmy_mondo_relaxed.owl inflammation of apocrine sweat gland|apocrine sweat gland|Hydradenitis|apocrine sweat gland inflammation UMLS:C0085160|NCIT:C32132|SCTID:69741000|ICD9:705.83|MESH:D016575|DOID:2282 owl:Class MONDO:0001005 biolink:NamedThing kaolin pneumoconiosis Pneumoconiosis caused by inhalation of kaolin dust. tmpak2llvmy_mondo_relaxed.owl Kaolinosis|simple kaolinosis GARD:0008355|ICD9:502|DOID:10331|UMLS:C0264435|NCIT:C35315|SCTID:36696005 https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis owl:Class MONDO:0018516 biolink:NamedThing epithelial tumor of anal canal A epithelial neoplasm that involves the anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal epithelial neoplasm UMLS:CN237521|Orphanet:424010 owl:Class MONDO:0100429 biolink:NamedThing intrahepatic cholestasis of pregnancy A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. tmpak2llvmy_mondo_relaxed.owl MESH:C535932|Orphanet:69665 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0100255 biolink:NamedThing adenosine kinase deficiency A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 8, formerly|hypermethioninemia encephalopathy due to adenosine kinase deficiency|mental retardation, autosomal recessive 8; MRT8|hypermethioninemia encephalopathy due to ADK deficiency|ADK hypermethioninemia|adenosine kinase deficiency|autosomal recessive mental retardation 8|mental retardation, autosomal recessive 8|ADK deficiency|autosomal recessive intellectual disability 8|hypermethioninemia due to adenosine kinase deficiency|MRT8 ICD10:E72.1|OMIM:614300|UMLS:C1970196|Orphanet:289290|UMLS:C3280381|MESH:C567015|DOID:0111038|OMIM:611094 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2587 owl:Class UBERON:0001731 biolink:NamedThing cavity of pharynx A anatomical space that is enclosed by a pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal cavity|lumen of pharynx|cavitas pharyngis|cavitas pharyngealis owl:Class UBERON:0001663 biolink:NamedThing cerebral vein The cerebral veins are divisible into external and internal groups according to the outer surfaces or the inner parts of the hemispheres they drain into. The external veins are the superior cerebral veins, inferior cerebral veins, and middle cerebral vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl venae encephali|venae cerebri owl:Class UBERON:0003499 biolink:NamedThing brain blood vessel A blood vessel that is part of a brain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of brain owl:Class MONDO:0001508 biolink:NamedThing patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. tmpak2llvmy_mondo_relaxed.owl UMLS:C0155434|DOID:12358|ICD9:381.7|ICD10:H69.0|ICD10:H69.00|GARD:0010812|SCTID:30280005 owl:Class MONDO:0002884 biolink:NamedThing nail disease A disease involving the nail. tmpak2llvmy_mondo_relaxed.owl disease or disorder of nail|disorder of nail|nail disease|nail disease or disorder|disease of nail DOID:4123|ICD9:703.8|ICD9:703.9|ICD10:L60|ICD10:L60.9|ICD9:703|SCTID:17790008|UMLS:C0027339|MESH:D009260 owl:Class UBERON:0010911 biolink:NamedThing ossicle Skeletal element that is often isolated, small, and variable in composition. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11023 biolink:NamedThing SLC35A3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002178 biolink:NamedThing epithelial cell of stomach An epithelial cell found in the lining of the stomach. tmpak2llvmy_mondo_relaxed.owl FMA:62948 tmeehan 2010-08-25T03:22:08Z CL:1000399 cell owl:Class MONDO:0020212 biolink:NamedThing superficial corneal dystrophy The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpak2llvmy_mondo_relaxed.owl anterior corneal dystrophy|dystrophy of anterior cornea|corneal epithelium corneal dystrophy (disease) UMLS:C2315777|SCTID:430888006|ICD10:H18.5|Orphanet:98625|ICD9:371.52 owl:Class GO:0051046 biolink:NamedThing regulation of secretion Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005969 biolink:NamedThing st. Louis encephalitis A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) tmpak2llvmy_mondo_relaxed.owl Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus infectious encephalitis|Saint Louis encephalitis|St. Louis encephalitis virus caused infectious encephalitis SCTID:417607009|Orphanet:83484|EFO:0007495|ICD9:062.3|DOID:10845|MESH:D004674|UMLS:C0014060|ICD10:A83.3|MedDRA:10041896 owl:Class MONDO:0020067 biolink:NamedThing infectious encephalitis An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. tmpak2llvmy_mondo_relaxed.owl encephalitis infection MESH:D000069544|SCTID:312215006|ICD9:323.4|NCIT:C79550|ICD9:049.8 owl:Class MONDO:0000368 biolink:NamedThing extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. tmpak2llvmy_mondo_relaxed.owl UMLS:C0679362|DOID:0050598|SCTID:423997002 owl:Class HGNC:4061 biolink:NamedThing SLC37A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021742 biolink:NamedThing puerperal infection An infection occurring in puerperium, the period of 6-8 weeks after giving birth. tmpak2llvmy_mondo_relaxed.owl Infection, Puerperal|Puerperal Infections|Puerperal Infection|Infections, Puerperal UMLS:C0034041|MESH:D011645|EFO:1001407 owl:Class MONDO:0044013 biolink:NamedThing puerperal disorder Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. tmpak2llvmy_mondo_relaxed.owl postpartum disorder|puerperal disorder|disorder, puerperal|disorders, puerperal|disorder of puerperium MESH:D011644|SCTID:362973001|UMLS:C0034040 owl:Class HGNC:15889 biolink:NamedThing FERMT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011028 biolink:NamedThing Abnormality of blood circulation An abnormality of blood circulation. tmpak2llvmy_mondo_relaxed.owl Blood circulation disorder UMLS:C4020760|UMLS:C4023585 peter 2011-03-03T10:25:21Z human_phenotype owl:Class MONDO:0001905 biolink:NamedThing bicipital tenosynovitis tmpak2llvmy_mondo_relaxed.owl SCTID:41137001|DOID:14192|UMLS:C0158304|ICD9:726.12 owl:Class MONDO:0000944 biolink:NamedThing cerebral artery occlusion tmpak2llvmy_mondo_relaxed.owl ICD9:434.90|DOID:10127|SCTID:20059004|ICD9:434.9|ICD9:434|ICD9:434.91 owl:Class CL:1000838 biolink:NamedThing kidney proximal convoluted tubule epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001045 cell owl:Class GO:0015276 biolink:NamedThing ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl ionotropic receptor activity owl:Class UBERON:0005996 biolink:NamedThing mitral valve cusp The two fibrous components and associated flaps of the mitral valve tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006009 biolink:NamedThing cusp of cardiac valve The part of the heart valves that serves to seal the heart valves when closed. There are three cusps for each valve except for the mitral valve, which has only two (hence its alternate name, 'bicuspid valve'). 'Nodules' are located at the tip of the valve, to form a tighter seal[WP]. tmpak2llvmy_mondo_relaxed.owl cardial valve cusp|semilunar valvule|cardiac valve cusp|cardiac valvule|cardiac valvular cusp owl:Class MONDO:0005692 biolink:NamedThing cat-scratch disease Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. tmpak2llvmy_mondo_relaxed.owl benign lymphoreticulosis|debre-Mollaret syndrome|Cat scratch disease|cat scratch fever|Foshay-Mollaret Cat scratch fever|debre's syndrome|bartonellosis due to Bartonella henselae infection|Cat-scratch fever UMLS:CN205187|EFO:0007195|ICD9:078.3|DOID:11258|UMLS:C0007361|MedDRA:10007729|MESH:D002372|GARD:0000027|SCTID:79974007|ICD10:A28.1|Orphanet:50839|NCIT:C84620 https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease owl:Class HGNC:2482 biolink:NamedThing CSTB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007324 biolink:NamedThing pancreatic lobule A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. tmpak2llvmy_mondo_relaxed.owl pancreatic lobule|pancreas lobe|lobulus pancreaticus owl:Class UBERON:0001384 biolink:NamedThing primary motor cortex The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html tmpak2llvmy_mondo_relaxed.owl somatomotor areas|somatic motor areas|motor area|motor cortex|excitable area|primary motor area|Rolando's area|gyrus precentralis|prefrontal gyrus owl:Class MONDO:0010206 biolink:NamedThing hypotrichosis 8 Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene. tmpak2llvmy_mondo_relaxed.owl woolly hair, autosomal recessive 1, with or without hypotrichosis|hypotrichosis 8|hypotrichosis type 8|LPAR6 hypotrichosis|hypotrichosis, localized, autosomal recessive 3|LAH3|hypotrichosis caused by mutation in LPAR6|HYPT8 DOID:0110705|MESH:C566950|OMIM:278150|UMLS:C3279470 owl:Class MONDO:0008686 biolink:NamedThing isolated familial woolly hair disorder Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. tmpak2llvmy_mondo_relaxed.owl familial woolly hair (autosomal recessive)|hereditary woolly hair (autosomal dominant)|hereditary woolly hair syndrome|familial wooly hair syndrome|woolly hair syndrome|hereditary wooly hair syndrome|wooly hair|ADWH|familial woolly hair syndrome|woolly hair, autosomal dominant|woolly hair Orphanet:170|DOID:0111572|MESH:C536745|UMLS:CN200245|GARD:0005597|MedDRA:10048017|HP:0002224|SCTID:52564001|ICD10:Q84.1 owl:Class MONDO:0020685 biolink:NamedThing infratentorial ependymal tumor An ependymal tumor arising from the infratentorial region of the brain. tmpak2llvmy_mondo_relaxed.owl infratentorial ependymal tumor NCIT:C131612 owl:Class MONDO:0019417 biolink:NamedThing X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl UMLS:CN227629|Orphanet:85318|ICD10:Q87.8 owl:Class MONDO:0003853 biolink:NamedThing Bartholin gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the major vestibular gland. tmpak2llvmy_mondo_relaxed.owl major vestibular gland adenocarcinoma|Bartholin gland adenocarcinoma|adenocarcinoma of Bartholin's gland|adenocarcinoma of the Bartholin's gland DOID:6316|UMLS:C0238016|NCIT:C7719 owl:Class MONDO:0002829 biolink:NamedThing bartholin gland carcinoma A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. tmpak2llvmy_mondo_relaxed.owl Bartholin's gland cancer|bartholin gland carcinoma|major vestibular gland carcinoma|carcinoma of Bartholin's gland|carcinoma of major vestibular gland|carcinoma of the Bartholin's gland|Bartholin gland cancer|Bartholin's gland carcinoma|Bartholin gland carcinoma (disease) UMLS:C0349561|SCTID:276876007|DOID:60003|HP:0030419|EFO:1000103|DOID:3999|NCIT:C9055 owl:Class MONDO:0032629 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 25 tmpak2llvmy_mondo_relaxed.owl MC1DN25|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 OMIM:618246 owl:Class MONDO:0015415 biolink:NamedThing oblique facial cleft tmpak2llvmy_mondo_relaxed.owl Orbitofacial cleft Orphanet:141253|ICD10:Q18.8 owl:Class MONDO:0015411 biolink:NamedThing facial cleft A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. tmpak2llvmy_mondo_relaxed.owl cleft face|craniofacial cleft|prosoposchisis Orphanet:141229|SCTID:92821006|NCIT:C124510|ICD10:Q18.8 owl:Class MONDO:0022687 biolink:NamedThing cerebellar degeneration Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. tmpak2llvmy_mondo_relaxed.owl cerebellum neurodegenerative disease|cerebellar degeneration|cerebellar Degeneration|neurodegenerative disease of cerebellum|Brain degeneration|cerebral degeneration GARD:0006019|ICD9:331.9|NCIT:C84624|SCTID:95646004|DOID:1443|UMLS:C0262404 https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration owl:Class MONDO:0030009 biolink:NamedThing alopecia-intellectual disability syndrome 4 tmpak2llvmy_mondo_relaxed.owl alopecia-mental retardation syndrome 4|APMR4|alopecia-intellectual disability syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4 OMIM:618840 owl:Class MONDO:0008756 biolink:NamedThing alopecia - intellectual disability syndrome Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. tmpak2llvmy_mondo_relaxed.owl alopecia intellectual disbility syndrome 1|alopecia with severe intellectual deficit|Amr syndrome|Perniola-Krajewska-Carnevale syndrome|AMR syndrome 1|alopecia-intellectual disability syndrome|alopecia-mental retardation syndrome ICD10:Q87.8|Orphanet:2850|OMIMPS:203650|DOID:0080627|GARD:0000612|SCTID:716191002 owl:Class MONDO:0021651 biolink:NamedThing synpolydactyly A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). tmpak2llvmy_mondo_relaxed.owl synpolydactyly NCIT:C75003|MESH:C538153 owl:Class MONDO:0004897 biolink:NamedThing hypotropia Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. tmpak2llvmy_mondo_relaxed.owl hypotropia|sunset sign|downward ocular deviation ICD9:378.32|UMLS:C0152208|NCIT:C42086|SCTID:29491004|DOID:9841 owl:Class MONDO:0010798 biolink:NamedThing proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|proximal tubulopathy, diabetes mellitus and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia UMLS:C3151959|OMIM:560000|Orphanet:3390|ICD10:Q87.8|GARD:0004532|MESH:C564014 owl:Class MONDO:0016795 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA tmpak2llvmy_mondo_relaxed.owl OXPHOS disease due to a duplication of mtDNA|mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA 2022-03-01 Orphanet:254793|UMLS:CN202051 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0004939 biolink:NamedThing hallucinogen dependence A drug dependence for a hallucinogenic substance. tmpak2llvmy_mondo_relaxed.owl ICD9:304.5|SCTID:38247002|ICD9:304.50|DOID:9977|ICD10:F16.2|NCIT:C34657 owl:Class MONDO:0005303 biolink:NamedThing drug dependence Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug. tmpak2llvmy_mondo_relaxed.owl chemical dependence NCIT:C3894|DOID:9974|ICD9:304.6|ICD9:304.90|ICD9:304|EFO:0003890|ICD9:304.60|SCTID:191816009 owl:Class GO:0008212 biolink:NamedThing mineralocorticoid metabolic process The chemical reactions and pathways involving mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Mineralocorticoids act primarily on water and electrolyte balance. tmpak2llvmy_mondo_relaxed.owl mineralocorticoid metabolism owl:Class MONDO:0001412 biolink:NamedThing conjunctival concretion tmpak2llvmy_mondo_relaxed.owl ICD9:372.54|SCTID:13706005|ICD10:H11.12|DOID:11988 owl:Class MONDO:0001331 biolink:NamedThing conjunctival deposit tmpak2llvmy_mondo_relaxed.owl UMLS:C0162280|SCTID:62660000|ICD10:H11.11|ICD9:372.56|DOID:11653 owl:Class MONDO:0001994 biolink:NamedThing sphenoidal sinus cancer A malignant neoplasm involving the sphenoidal sinus. tmpak2llvmy_mondo_relaxed.owl cancer of sphenoidal sinus|malignant sphenoid sinus neoplasm|malignant neoplasm of the sphenoid sinus|malignant sphenoidal sinus neoplasm|malignant neoplasm of the sphenoidal sinus|malignant tumor of the sphenoid sinus|sphenoidal sinus cancer|malignant neoplasm of sphenoid sinus|malignant sphenoidal sinus tumor|malignant neoplasm of sphenoidal sinus|malignant sphenoid sinus tumor|malignant tumor of sphenoidal sinus|malignant tumor of the sphenoidal sinus|malignant tumor of sphenoid sinus DOID:14546|NCIT:C3543|ICD10:C31.3|SCTID:363428005|UMLS:C0153479|ICD9:160.5 owl:Class GO:0050746 biolink:NamedThing regulation of lipoprotein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl regulation of lipoprotein metabolism owl:Class CL:0000762 biolink:NamedThing nucleated thrombocyte A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates. tmpak2llvmy_mondo_relaxed.owl Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals. cell owl:Class MONDO:0000500 biolink:NamedThing tongue squamous cell carcinoma A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. tmpak2llvmy_mondo_relaxed.owl tongue squamous cell carcinoma|squamous cell carcinoma of the tongue|scc of the tongue|scc of tongue|squamous cell carcinoma of tongue|tongue scc SCTID:276952000|EFO:1000055|UMLS:C0349566|DOID:0050865|NCIT:C4648 owl:Class MONDO:0004958 biolink:NamedThing oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of mouth|squamous cell carcinoma of oral cavity|squamous cell carcinoma of the oral cavity|scc of oral cavity|scc of the mouth|oral cavity squamous cell cancer|scc of mouth|scc of the oral cavity|mouth squamous cell carcinoma|oral squamous cell carcinoma|oral cavity squamous cell carcinoma|OCSC|squamous cell carcinoma of the mouth|mouth scc|oral cavity scc NCIT:C4833|SCTID:307502000|UMLS:C0585362|GARD:0007263|DOID:0050866|ONCOTREE:OCSC|EFO:0000199|Orphanet:502363 https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma owl:Class UBERON:0004925 biolink:NamedThing submucosa of laryngopharynx A submucosa that is part of a hypopharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of hypopharynx|submucosa of laryngeal pharynx|laryngeal pharynx submucosa|tela submucosa (pars laryngea pharyngis)|hypopharynx submucosa|laryngopharynx submucosa owl:Class UBERON:0007037 biolink:NamedThing mechanosensory system tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014680 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 7 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene. tmpak2llvmy_mondo_relaxed.owl herpes simplex encephalitis, susceptibility to, 7|encephalopathy, acute, infection-induced, susceptibility to, 7|IIAE7|herpes simplex encephalitis caused by mutation in IRF3|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, 5|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, type 7|IRF3 herpes simplex encephalitis OMIM:616532 owl:Class MONDO:0001674 biolink:NamedThing diverticulitis of colon Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. tmpak2llvmy_mondo_relaxed.owl colonic diverticular disease|colon diverticulitis ICD9:562.12|MESH:D004239|SCTID:111359004|ICD9:562.11|DOID:13254|UMLS:C0012814 owl:Class MONDO:0004235 biolink:NamedThing diverticulitis An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. tmpak2llvmy_mondo_relaxed.owl inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation NCIT:C26752|UMLS:C0012813|MESH:D004238|SCTID:307496006|EFO:1001460|DOID:7475 owl:Class MONDO:0020649 biolink:NamedThing warty carcinoma of the penis A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. tmpak2llvmy_mondo_relaxed.owl condylomatous carcinoma of the penis|squamous cell carcinoma of the penis, warty type|squamous cell carcinoma of penis, warty type|squamous cell carcinoma of the penis, condylomatous type|condylomatous carcinoma of penis|warty squamous cell carcinoma of penis|condylomatous squamous cell carcinoma of penis|warty penile squamous cell carcinoma|warty carcinoma of penis|warty carcinoma of the penis|squamous cell carcinoma of penis, condylomatous type|condylomatous squamous cell carcinoma of the penis|warty squamous cell carcinoma of the penis|condylomatous penile squamous cell carcinoma ONCOTREE:WPSCC|NCIT:C6981 owl:Class MONDO:0003404 biolink:NamedThing adult yolk sac tumor A yolk sac tumor that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult endodermal sinus neoplasm|adult yolk Sac tumor|adult yolk Sac neoplasm|yolk Sac tumor|adult endodermal sinus tumor|yolk sac tumor of adults NCIT:C27241|UMLS:C1332221|DOID:5348 owl:Class ECTO:0000007 biolink:NamedThing exposure to visible light radiation A exposure event involving the interaction of an exposure receptor to visible spectrum radiation. tmpak2llvmy_mondo_relaxed.owl visible spectrum radiation exposure owl:Class GO:1905154 biolink:NamedThing negative regulation of membrane invagination Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination. tmpak2llvmy_mondo_relaxed.owl inhibition of membrane invagination|down-regulation of membrane invagination|down regulation of membrane invagination|downregulation of membrane invagination owl:Class HP:0000499 biolink:NamedThing Abnormal eyelash morphology An abnormality of the eyelashes. tmpak2llvmy_mondo_relaxed.owl Abnormal eyelashes|Abnormality of the eyelashes|Eyelash abnormality UMLS:C2675111 HP:0004530 human_phenotype owl:Class GO:0034284 biolink:NamedThing response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpak2llvmy_mondo_relaxed.owl response to monosaccharide stimulus owl:Class GO:0009743 biolink:NamedThing response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpak2llvmy_mondo_relaxed.owl response to carbohydrate stimulus owl:Class MONDO:0011089 biolink:NamedThing patent ductus venosus tmpak2llvmy_mondo_relaxed.owl portosystemic Venous shunt, congenital|PSVS|patent ductus venosus|PDV MESH:C562830|OMIM:601466|SCTID:253330006|ICD9:747.49|GARD:0010483 https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus owl:Class NCBITaxon:1593277 biolink:NamedThing Onygenales incertae sedis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:34383 ncbi_taxonomy owl:Class NCBITaxon:33183 biolink:NamedThing Onygenales tmpak2llvmy_mondo_relaxed.owl Gymnoascales|Arachnomycetales|Ascosphaerales GC_ID:1|PMID:17486980 NCBITaxon:5102|NCBITaxon:36053|NCBITaxon:259362 ncbi_taxonomy owl:Class MONDO:0014933 biolink:NamedThing developmental and epileptic encephalopathy, 44 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 44; EIEE44|DEE44|epileptic encephalopathy, early infantile, type 44|EIEE44|early infantile epileptic encephalopathy caused by mutation in UBA5|UBA5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 44 OMIM:617132|UMLS:C4310700|DOID:0080424 owl:Class MONDO:0008930 biolink:NamedThing celiac disease, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 1|CELIAC1|celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, type 1|celiac disease, susceptibility to, 1|susceptibility to celiac disease 1 OMIM:212750 owl:Class MONDO:0017839 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. tmpak2llvmy_mondo_relaxed.owl classic 21-OHD CAH, salt wasting form Orphanet:315306|ICD10:E25.0 owl:Class CHEBI:28044 biolink:NamedThing phenylalanine An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. tmpak2llvmy_mondo_relaxed.owl phenylalanine|2-amino-3-phenylpropanoic acid|F|Phenylalanine|Phenylalanin|PHE|alpha-Amino-beta-phenylpropionic acid|fenilalanina|DL-Phenylalanine owl:Class CHEBI:33856 biolink:NamedThing aromatic amino acid An amino acid whose structure includes an aromatic ring. tmpak2llvmy_mondo_relaxed.owl Aromatic amino acid|aromatic amino acids owl:Class MONDO:0010758 biolink:NamedThing Wieacker-Wolff syndrome A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, with congenital contractures and low fingertip arches|intellectual disability-developmental delay-contractures syndrome|Miles-CARPENTER X-linked mental retardation syndrome|MCS|mental retardation, X-linked, with congenital contractures and Low fingertip arches|mental retardation, X-linked, syndromic 4|Wieacker-Wolff syndrome, X-linked|foot contractures-muscle atrophy-oculomotor apraxia syndrome|Wieacker Wolff syndrome|MRXS4|Wieacker syndrome|WRWF|Miles-Carpenter syndrome|WRWFXLR|contractures of feet, muscle atrophy, and oculomotor apraxia|X-linked intellectual disability, Miles-Carpenter type|Wieacker-Wolff syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy Orphanet:85283|OMIM:309605|MESH:C536703|DOID:0060815|SCTID:722456001|MESH:C537472|ICD10:Q87.8|GARD:0007890|Orphanet:3454|OMIM:314580|GARD:0009984|ICD10:G71.8|SCTID:719012009 owl:Class GO:1903578 biolink:NamedThing regulation of ATP metabolic process Any process that modulates the frequency, rate or extent of ATP metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of ATP metabolism owl:Class GO:0099500 biolink:NamedThing vesicle fusion to plasma membrane Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140029 biolink:NamedThing exocytic process The cellular processes that contribute to exocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003073 biolink:NamedThing lens placode A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. tmpak2llvmy_mondo_relaxed.owl placoda lentis|lens placodes owl:Class GO:1900017 biolink:NamedThing positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. tmpak2llvmy_mondo_relaxed.owl positive regulation of cytokine production involved in acute inflammatory response|up regulation of cytokine production involved in inflammatory response|up regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0008436 biolink:NamedThing Sneddon syndrome Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. tmpak2llvmy_mondo_relaxed.owl Sneddon's syndrome|Sneddon syndrome|livedo racemosa and cerebrovascular accidents|livedo reticularis and cerebrovascular accidents|cerebro-vascular lesions and livedo reticularis|livedo reticularis-cerebrovascular accident syndrome|Ehrmann-Sneddon syndrome|livedo racemosa-cerebrovascular accident syndrome|idiopathic livedo reticularis with systemic involvement ICD10:I77.8|GARD:0007664|MedDRA:10053841|SCTID:238776001|Orphanet:820|OMIM:182410|DOID:13096|EFO:1001186|UMLS:C0282492|MESH:D018860 https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome owl:Class MONDO:0017375 biolink:NamedThing congenital enterovirus infection Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. tmpak2llvmy_mondo_relaxed.owl mother-to-child transmission of enterovirus infection|antenatal enterovirus infection|congenital enterovirus infection|congenital infection caused by enterovirus|congenital enterovirus infectious disease UMLS:C4274223|SCTID:716865000|ICD10:P35.8|Orphanet:292 owl:Class MONDO:0005747 biolink:NamedThing enterovirus infectious disease An disease caused by infection with Enterovirus. tmpak2llvmy_mondo_relaxed.owl disease caused by enterovirus|infection, Enterovirus|enterovirus infection|disease due to enterovirus|enteroviral infection|Enterovirus disease or disorder|infections, Enterovirus|Enterovirus caused disease or disorder|enterovirus infectious disease|Enterovirus infection|Enterovirus infectious disease MESH:D004769|EFO:0007255|SCTID:53648006|UMLS:C0014378|ICD9:079.89 owl:Class UBERON:0013699 biolink:NamedThing strand of axillary hair A strand of hair that is part of a axilla. tmpak2llvmy_mondo_relaxed.owl axilla hair|hair of axilla|axillary hair owl:Class MONDO:0015081 biolink:NamedThing neuroendocrine tumor with other location tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN197376|Orphanet:100101 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. MONDO:0019496 https://github.com/monarch-initiative/mondo/issues/3886 owl:Class NCBITaxon:15957 biolink:NamedThing Phleum pratense tmpak2llvmy_mondo_relaxed.owl timothy grass|timothy GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:15956 biolink:NamedThing Phleum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:25367 biolink:NamedThing CCDC8 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009152 biolink:NamedThing purine ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl purine ribonucleotide synthesis|purine ribonucleotide formation|purine ribonucleotide biosynthesis|purine ribonucleotide anabolism owl:Class GO:0006164 biolink:NamedThing purine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl purine nucleotide anabolism|purine nucleotide formation|purine nucleotide biosynthesis|purine nucleotide synthesis owl:Class MONDO:0032706 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 27 tmpak2llvmy_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27|SCAR27 OMIM:618369|DOID:0111616 owl:Class UBERON:0014404 biolink:NamedThing female anatomical structure A part of the body present only in females. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014402 biolink:NamedThing sex-specific anatomical structure A part of the body present only in a specific gender. tmpak2llvmy_mondo_relaxed.owl sex-specific|gender-specific anatomical structure|gender-specific owl:Class UBERON:0005613 biolink:NamedThing left dorsal aorta tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000947 biolink:NamedThing aorta The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation tmpak2llvmy_mondo_relaxed.owl dorsal aorta|trunk of aortic tree|arteria maxima|trunk of systemic arterial tree owl:Class MONDO:0012549 biolink:NamedThing autosomal recessive ataxia, Beauce type A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. tmpak2llvmy_mondo_relaxed.owl ARCA1|spinocerebellar ataxia, autosomal recessive 8|spinocerebellar ataxia autosomal recessive 8|autosomal recessive spinocerebellar ataxia 8|SYNE1-related autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia type 1|recessive ataxia of Beauce|spinocerebellar ataxia, autosomal recessive type 8|SCAR8|cerebellar ataxia, autosomal recessive, type 1|autosomal recessive ataxia Beauce type|ataxia, recessive, of Beauce GARD:0012234|UMLS:C3683483|OMIM:610743|UMLS:C1853116|ICD10:G11.2|DOID:0111618|Orphanet:88644 owl:Class MONDO:0003012 biolink:NamedThing sarcomatoid renal cell carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. tmpak2llvmy_mondo_relaxed.owl sarcomatoid renal cell carcinoma|SRCC|renal cell carcinoma, spindle cell|RCC w/ sarcomatoid features|renal cell carcinoma with sarcomatoid features|sarcomatoid renal cell cancer NCIT:C27893|ONCOTREE:SRCC|UMLS:C1266043|ICDO:8318/3|DOID:4473 owl:Class UBERON:0004947 biolink:NamedThing submucosa of right main bronchus A submucosa that is part of a right main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right main bronchus submucosa|right principal bronchus submucosa|right main bronchial submucosa|submucosa of right bronchus|right bronchus submucosa|submucosa of right principal bronchus owl:Class MONDO:0007500 biolink:NamedThing ear malformation tmpak2llvmy_mondo_relaxed.owl cup Ear|ear malformation OMIM:128600|SCTID:275259005|ICD9:744.29|ICD9:744.3 owl:Class MONDO:0009204 biolink:NamedThing lethal faciocardiomelic dysplasia Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. tmpak2llvmy_mondo_relaxed.owl faciocardiomelic dysplasia, lethal|faciocardiomelic dysplasia lethal OMIM:227270|MESH:C565578|SCTID:719400000|GARD:0002229|ICD10:Q87.8|UMLS:C1856891|Orphanet:1972 https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal owl:Class MONDO:0018131 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion tmpak2llvmy_mondo_relaxed.owl Del(9)(q21)|9q21 microdeletion syndrome UMLS:CN204512|Orphanet:352665|ICD10:Q93.5 owl:Class MONDO:0018681 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Orphanet:453499|UMLS:CN237747 owl:Class HGNC:12726 biolink:NamedThing VWF tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002253 biolink:NamedThing epithelial cell of large intestine An epithelial cell of the large intestine. tmpak2llvmy_mondo_relaxed.owl epithelial cell of colon BTO:0004297|FMA:256157 tmeehan 2010-09-08T09:28:22Z CL:1000292 cell owl:Class UBERON:0004476 biolink:NamedThing musculature of shoulder The collection of muscles that form attachments to the shoulder skeleton. tmpak2llvmy_mondo_relaxed.owl muscle group of shoulder|set of muscles of shoulder owl:Class HGNC:11019 biolink:NamedThing SLC34A1 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001055 biolink:NamedThing sea water fish food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001046 biolink:NamedThing seafood product A seafood product is a vertebrate or invertibrate organism from an aquatic environment. tmpak2llvmy_mondo_relaxed.owl Some of the subclasses are currently freshwater organisms. Damion Dooley owl:Class MONDO:0017412 biolink:NamedThing 2q31.1 microduplication syndrome tmpak2llvmy_mondo_relaxed.owl dup(2)(q31.1)|trisomy 2q31.1 Orphanet:294026|UMLS:CN203162|ICD10:Q92.3 owl:Class MONDO:0016953 biolink:NamedThing partial duplication of the long arm of chromosome 2 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Duplication 2q|partial duplication of the long arm of chromosome type 2|partial duplication of chromosome 2q|2q duplication|partial trisomy of chromosome 2q|trisomy 2q|2q trisomy|partial trisomy 2q|partial trisomy of the long arm of chromosome 2|chromosome 2q duplication MESH:C535367|UMLS:C0795805|Orphanet:262842|GARD:0005340 owl:Class HGNC:869 biolink:NamedThing ATP7A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001101 biolink:NamedThing fat necrosis of breast Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. tmpak2llvmy_mondo_relaxed.owl breast fat necrosis|fat Necrosis of the breast UMLS:C0156321|NCIT:C3661|SCTID:21381006|ICD9:611.3|ICD10:N64.1|DOID:10691 owl:Class GO:0042592 biolink:NamedThing homeostatic process Any biological process involved in the maintenance of an internal steady state. tmpak2llvmy_mondo_relaxed.owl positive regulation of homeostatic process|activation of homeostatic process|regulation of homeostatic process|negative regulation of homeostatic process|homeostasis|inhibition of homeostatic process owl:Class MONDO:0013115 biolink:NamedThing RIN2 syndrome RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. tmpak2llvmy_mondo_relaxed.owl macrocephaly, alopecia, cutis laxa, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|RIN2 syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|MACS syndrome|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|RIN2 deficiency Orphanet:217335|UMLS:C2751321|OMIM:613075|SCTID:723367005|MESH:C567770|ICD10:Q82.8 owl:Class GO:0002695 biolink:NamedThing negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. tmpak2llvmy_mondo_relaxed.owl inhibition of leukocyte activation|negative regulation of leucocyte activation|down regulation of leukocyte activation|downregulation of leukocyte activation|negative regulation of immune cell activation|down-regulation of leukocyte activation owl:Class MONDO:0015548 biolink:NamedThing Huntington disease-like syndrome tmpak2llvmy_mondo_relaxed.owl Huntington disease phenocopy syndrome SCTID:702376003|ICD9:333.99|MESH:C580174|UMLS:C3711380|Orphanet:158266 owl:Class GO:0051924 biolink:NamedThing regulation of calcium ion transport Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl regulation of calcium transport owl:Class HGNC:9255 biolink:NamedThing PPIB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043549 biolink:NamedThing regulation of kinase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q biolink:NamedThing chr15q (Human) tmpak2llvmy_mondo_relaxed.owl 101991189 19000000 hg38 owl:Class MONDO:0018550 biolink:NamedThing spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder tmpak2llvmy_mondo_relaxed.owl SPOAN and SPOAN-related disorder UMLS:CN237550|Orphanet:431320 owl:Class HP:0000750 biolink:NamedThing Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. tmpak2llvmy_mondo_relaxed.owl Late-onset speech development|Language delayed|Impaired speech and language development|Delayed speech development|Speech and language difficulties|Poor speech acquisition|Impaired speech development|Delayed speech|Delayed language development|Delayed speech acquisition|Language development deficit|Poor speech development|Poor language development|Speech difficulties|Speech and language delay|Deficiency of speech development|Delayed speech and language development|Language delay|Speech delay UMLS:C0454644|SNOMEDCT_US:162294008|UMLS:C0233715|SNOMEDCT_US:29164008|UMLS:C0241210|UMLS:C0023012|MSH:D007805|SNOMEDCT_US:62415009|SNOMEDCT_US:229721007 Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. HP:0006936|HP:0002116|HP:0002336|HP:0007004|HP:0002399|HP:0007127|HP:0007172|HP:0002117|HP:0007170|HP:0002498 human_phenotype owl:Class HP:0000093 biolink:NamedThing Proteinuria Increased levels of protein in the urine. tmpak2llvmy_mondo_relaxed.owl Protein in urine|High urine protein levels MSH:D011507|UMLS:C0033687|SNOMEDCT_US:29738008 human_phenotype owl:Class HP:0020129 biolink:NamedThing Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. tmpak2llvmy_mondo_relaxed.owl robinp 2019-07-05T16:29:22Z human_phenotype owl:Class UBERON:0002498 biolink:NamedThing deltopectoral crest a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches tmpak2llvmy_mondo_relaxed.owl deltoid eminence|pectoral process|tuberositas deltoidea humeri|deltoid tuberosity of humerus|deltoid tuberosity|deltoid process|deltoid impression|tuberositas deltoidea (corpus humeri)|crista ventralis humeri|crista ventralis|tuberositas deltoidea|deltoid crest owl:Class MONDO:0024482 biolink:NamedThing eccrine sweat gland hamartoma A hamartoma characterized by localized eccrine sweat gland malformation. tmpak2llvmy_mondo_relaxed.owl hamartoma of the eccrine sweat gland|eccrine sweat gland hamartoma|eccrine sweat gland hamartoma (disease)|hamartoma of eccrine sweat gland NCIT:C5564|UMLS:C1333372 owl:Class MONDO:0002090 biolink:NamedThing eccrine sweat gland neoplasm A neoplasm involving a eccrine sweat gland. tmpak2llvmy_mondo_relaxed.owl eccrine tumor of skin|tumor of eccrine sweat gland|eccrine tumor of the skin|eccrine sweat gland neoplasm (disease)|eccrine skin tumor|eccrine neoplasm of the skin|eccrine skin neoplasm|neoplasm of eccrine sweat gland|eccrine sweat gland tumor|eccrine neoplasm of skin|eccrine neoplasm|eccrine tumor UMLS:C1333371|NCIT:C6796|DOID:173 owl:Class MONDO:0002300 biolink:NamedThing dermis tumor A benign, intermediate, or malignant neoplasm that arises from the dermis. tmpak2llvmy_mondo_relaxed.owl neoplasm of dermis|neoplasm of the dermis|tumor of the dermis|dermis neoplasm (disease)|dermis tumor|tumor of dermis|dermal tumor|dermis neoplasm|dermal neoplasm DOID:2438|NCIT:C4475|UMLS:C0346041 owl:Class CHEBI:33672 biolink:NamedThing heterobicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. tmpak2llvmy_mondo_relaxed.owl heterobicyclic compounds owl:Class CHEBI:33636 biolink:NamedThing bicyclic compound A molecule that features two fused rings. tmpak2llvmy_mondo_relaxed.owl bicyclic compounds owl:Class MONDO:0011318 biolink:NamedThing Tonoki syndrome tmpak2llvmy_mondo_relaxed.owl short stature, brachydactyly, nail dysplasia and mental retardation|short stature, brachydactyly, nail dysplasia and intellectual disability|Tonoki syndrome MESH:C536967|UMLS:C1863918|GARD:0010219|OMIM:603396 https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome owl:Class UBERON:0035471 biolink:NamedThing posterior surface of kidney tmpak2llvmy_mondo_relaxed.owl facies posterior renis|facies posterior (Ren) owl:Class MONDO:0019554 biolink:NamedThing idiopathic localized lipodystrophy Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). tmpak2llvmy_mondo_relaxed.owl Orphanet:90158|ICD10:E88.1|UMLS:CN227650 owl:Class MONDO:0010636 biolink:NamedThing Kallmann syndrome with spastic paraplegia tmpak2llvmy_mondo_relaxed.owl spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia UMLS:C1839911|OMIM:308750|MESH:C536873 owl:Class HP:0003312 biolink:NamedThing Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. tmpak2llvmy_mondo_relaxed.owl Abnormally shaped vertebrae UMLS:C1839326 human_phenotype owl:Class HP:0003468 biolink:NamedThing Abnormal vertebral morphology An abnormality of one or more of the vertebrae. tmpak2llvmy_mondo_relaxed.owl Multiple vertebral anomalies|Abnormality of the vertebrae|Vertebral anomalies|Abnormal vertebral bodies|Abnormal vertebrae SNOMEDCT_US:74877002|SNOMEDCT_US:205043005|UMLS:C4020839|UMLS:C0158775|UMLS:C4020840|Fyler:4108 A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). HP:0005719 human_phenotype owl:Class MONDO:0016644 biolink:NamedThing logopenic progressive aphasia Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. tmpak2llvmy_mondo_relaxed.owl Logopenic variant PPA|LPA|Logopenic primary progressive aphasia Orphanet:250831|ICD10:G31.0|UMLS:C4049711|SCTID:716380002|GARD:0010791 https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia owl:Class MONDO:0019806 biolink:NamedThing primary progressive aphasia Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). tmpak2llvmy_mondo_relaxed.owl primary progressive aphasia syndrome|Mesulam syndrome|PPA UMLS:C0282513|MESH:D018888|GARD:0008541|Orphanet:95432|NCIT:C85024|ICD10:G31.0|EFO:0009053 owl:Class MONDO:0000107 biolink:NamedThing auriculocondylar syndrome Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. tmpak2llvmy_mondo_relaxed.owl ears prominent and constricted|auriculo-condylar syndrome|question mark ear syndrome|dysgnathia complex|question-mark ear syndrome|question mark ear GARD:0009798|UMLS:C1865295|SCTID:702443003|OMIMPS:602483|MESH:C538270|Orphanet:137888|ICD10:Q75.8|UMLS:CN160484 owl:Class MONDO:0042601 biolink:NamedThing Samson-Gardner syndrome tmpak2llvmy_mondo_relaxed.owl craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia|Samson Gardner syndrome GARD:0000151|MESH:C537230|UMLS:C2931448 owl:Class GO:0016050 biolink:NamedThing vesicle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. tmpak2llvmy_mondo_relaxed.owl vesicle organization and biogenesis|vesicle organisation owl:Class CHEBI:37397 biolink:NamedThing chondroitin sulfate Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues. tmpak2llvmy_mondo_relaxed.owl chondroitin sulfates|chondroitin polysulfate|chondroitin sulphate|Chondroitin sulfate|chondroitin sulfuric acid|Chondroitinsulfat owl:Class CHEBI:37395 biolink:NamedThing mucopolysaccharide Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. tmpak2llvmy_mondo_relaxed.owl Mucopolysaccharid|mucopolysaccharides|mucopolisacarido|mucopolisacaridos|Mucopolysaccharide|Mukopolysaccharid owl:Class UBERON:0035546 biolink:NamedThing uveal vein tmpak2llvmy_mondo_relaxed.owl ciliary vein owl:Class HGNC:6408 biolink:NamedThing MAFB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008331 biolink:NamedThing clitoral smooth muscle A smooth muscle tissue that is part of a clitoris. tmpak2llvmy_mondo_relaxed.owl clitoris smooth muscle owl:Class MONDO:0006223 biolink:NamedThing gastric diffuse large B-cell lymphoma An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach. tmpak2llvmy_mondo_relaxed.owl primary diffuse large B-cell lymphoma of the stomach|primary gastric diffuse large B-cell lymphoma|primary diffuse large B-cell lymphoma of stomach|primary diffuse large B-cell gastric lymphoma|gastric diffuse large B-cell lymphoma UMLS:C1335483|EFO:1000270|NCIT:C5253 owl:Class HGNC:16692 biolink:NamedThing CD320 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003569 biolink:NamedThing leg connective tissue A portion of connective tissue that is part of a leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl portion of connective tissue of leg|textus connectivus of leg|leg portion of connective tissue|leg textus connectivus|connective tissue of leg owl:Class UBERON:0003589 biolink:NamedThing hindlimb connective tissue A portion of connective tissue that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb connective tissue|connective tissue of hindlimb|connective tissue of lower extremity|connective tissue of inferior member|connective tissue of hind limb owl:Class MONDO:0022894 biolink:NamedThing craniosynostosis autosomal dominant tmpak2llvmy_mondo_relaxed.owl GARD:0001588 https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant owl:Class MONDO:0004467 biolink:NamedThing mature gastric teratoma A benign teratoma that arises from the stomach. tmpak2llvmy_mondo_relaxed.owl mature teratoma of the stomach|stomach mature teratoma|mature gastric teratoma|mature teratoma of stomach DOID:8118|NCIT:C5260|UMLS:C1334635 owl:Class MONDO:0008742 biolink:NamedThing autosomal dominant severe congenital neutropenia Autosomal dominant form of severe congenital neutropenia. tmpak2llvmy_mondo_relaxed.owl severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant Orphanet:486|UMLS:C1859966|ICD10:D70|GARD:0009558 https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant owl:Class MONDO:0020416 biolink:NamedThing Neuhauser anomaly Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). tmpak2llvmy_mondo_relaxed.owl Orphanet:99078|SCTID:766751007|ICD10:Q25.4 owl:Class MONDO:0015236 biolink:NamedThing aortic arch defects Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. tmpak2llvmy_mondo_relaxed.owl ICD10:Q25.4|Orphanet:1132|GARD:0000741 https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect owl:Class GO:0048871 biolink:NamedThing multicellular organismal homeostasis Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016242 biolink:NamedThing hemoglobin C disease Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). tmpak2llvmy_mondo_relaxed.owl Hb C disease|Hb-C disease MedDRA:10018883|MESH:D006445|UMLS:C0019021|Orphanet:2132|MESH:C531699|SCTID:51053007|DOID:2859|GARD:0002640|ICD9:282.7|ICD10:D58.2|NCIT:C34675 https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease owl:Class MONDO:0011939 biolink:NamedThing Spondyloenchondrodysplasia with immune dysregulation tmpak2llvmy_mondo_relaxed.owl spondyloenchondromatosis|Spondyloenchondrodysplasia with immune dysregulation|SPENCDI|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|spondylometaphyseal dysplasia with enchondromatous changes|spondylometaphyseal dysplasia with combined immunodeficiency|spondyloenchondrodysplasia|Roifman Immunoskeletal syndrome|spondyloenchondrodysplasia with immune dysregulation|SPENCD|SEM SCTID:703523004|Orphanet:1855|GARD:0004978|UMLS:C1842763|OMIM:271550|OMIM:607944|EFO:0002326|ICD9:756.9|ICD10:Q77.7|MESH:C564307|Orphanet:50816|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia owl:Class MONDO:0015764 biolink:NamedThing mosaic trisomy 20 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 20|Mosaic trisomy type 20 Orphanet:1724|ICD10:Q92.1 owl:Class MONDO:0022757 biolink:NamedThing chromosome 20 trisomy Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. tmpak2llvmy_mondo_relaxed.owl trisomy 20|trisomy chromosome 20|mosaic trisomy 20|trisomy 20 mosaicism GARD:0005332|MESH:C535372|UMLS:C0265479|NCIT:C36397 https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy owl:Class UBERON:0036523 biolink:NamedThing wall of vagina tmpak2llvmy_mondo_relaxed.owl vaginal wall owl:Class MONDO:0008634 biolink:NamedThing urticaria, familial localized heat tmpak2llvmy_mondo_relaxed.owl urticaria, familial localized heat MESH:C566011|OMIM:191950|UMLS:C1860551 owl:Class UBERON:0009722 biolink:NamedThing entire pharyngeal arch endoderm tmpak2llvmy_mondo_relaxed.owl pharyngeal arch endoderm owl:Class MONDO:0011225 biolink:NamedThing severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. tmpak2llvmy_mondo_relaxed.owl severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency due to artemis deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|RS-SCID|Athabaskan Severe combined immunodeficiency|severe combined immunodeficiency, Athabascan type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabaskan type|SCID due to ARTEMIS deficiency|artemis deficiency|severe combined immunodeficiency, partial|severe combined immunodeficiency with sensitivity to ionizing radiation|SCID due to artemis deficiency|severe combined immunodeficiency due to DCLRE1C deficiency|severe combined immunodeficiency, Athabaskan-type|SCID due to DCLRE1C deficiency|SCID, Athabascan type|SCID, Athabaskan type|DCLRE1C severe combined immunodeficiency (disease) SCTID:715982006|ICD10:D81.1|OMIM:602450|GARD:0009987|DOID:0060006|Orphanet:275|DOID:0090012 https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation owl:Class GO:0006584 biolink:NamedThing catecholamine metabolic process The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpak2llvmy_mondo_relaxed.owl catecholamine metabolism owl:Class GO:0009712 biolink:NamedThing catechol-containing compound metabolic process The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. tmpak2llvmy_mondo_relaxed.owl catechol metabolism|catechol metabolic process owl:Class MONDO:0020438 biolink:NamedThing atrial septal aneurysm tmpak2llvmy_mondo_relaxed.owl Orphanet:99107|UMLS:C0521533|SCTID:95440004|ICD10:Q21.1 owl:Class NCBITaxon:2038 biolink:NamedThing Tropheryma tmpak2llvmy_mondo_relaxed.owl PMID:1377787|PMID:11491348|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:2805591 biolink:NamedThing Tropherymataceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0007275 biolink:NamedThing multicellular organism development The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015701 biolink:NamedThing bicarbonate transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015711 biolink:NamedThing organic anion transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044619 biolink:NamedThing propylthiouracil embryofetopathy Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). tmpak2llvmy_mondo_relaxed.owl PTU embryofetopathy|PTU embryopathy|propylthiouracil embryopathy Orphanet:485358 owl:Class MONDO:0500000 biolink:NamedThing episodic angioedema with eosinophilia A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. tmpak2llvmy_mondo_relaxed.owl EAE|Gleich's syndrome|Gleich syndrome GARD:0013029 Emily Hartley owl:Class MONDO:0014495 biolink:NamedThing retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl retinal dystrophy-juvenile cataract-short stature syndrome|retinal dystrophy, juvenile cataracts, and short stature syndrome|RDJCSS ICD10:Q87.8|UMLS:C4015242|Orphanet:436245|OMIM:616108 owl:Class MONDO:0008707 biolink:NamedThing acro-renal-mandibular syndrome Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl split hand/split foot-mandibular hypoplasia syndrome|split-hand and split-foot with mandibular hypoplasia|acrorenal mandibular syndrome|acrorenal-uterine-mandibular syndrome|acrorenal-mandibular syndrome|acro-renal-uterine-mandibular syndrome|split hand split foot mandibular hypoplasia Orphanet:958|MESH:C535665|OMIM:200980|ICD10:Q87.8|UMLS:C1860166|GARD:0000480|SCTID:720414005 owl:Class MONDO:0010099 biolink:NamedThing Tay-Sachs disease AB variant GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. tmpak2llvmy_mondo_relaxed.owl Ab variant GM2-gangliosidosis|Tay-Sachs disease, variant AB|GM2 activator deficiency|GM2-gangliosidosis, AB variant|hexosaminidase activator deficiency|GM2 gangliosidosis, AB variant|Tay-Sachs disease, AB variant OMIM:272750|ICD10:E75.0|Orphanet:309246|DOID:4795|SCTID:71253000|MESH:D049290|NCIT:C133084|UMLS:C0268275 owl:Class MONDO:0017720 biolink:NamedThing GM2 gangliosidosis A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. tmpak2llvmy_mondo_relaxed.owl GM2-gangliosidosis, B, B1, AB variant|GM>2< gangliosidosis|gangliosidosis GM2 MESH:D020143|ICD10:E75.00|Orphanet:309152|SCTID:33316007|UMLS:C0268274|ICD10:E75.0|GARD:0002522|DOID:3321 owl:Class HP:0004377 biolink:NamedThing Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). tmpak2llvmy_mondo_relaxed.owl Blood tumor|Blood tumour|Haematological neoplasm SNOMEDCT_US:129154003|MSH:D019337|SNOMEDCT_US:269475001|UMLS:C0376545 peter 2008-03-18T07:44:00Z human_phenotype owl:Class MONDO:0030294 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 3 tmpak2llvmy_mondo_relaxed.owl MMIHS3|megacystis-microcolon-intestinal hypoperistalsis syndrome 3 OMIM:619362 owl:Class MONDO:0021666 biolink:NamedThing ear infection A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. tmpak2llvmy_mondo_relaxed.owl otitis|Ear infection MESH:D010031|NCIT:C27193|UMLS:C0699744 owl:Class NCBITaxon:10258 biolink:NamedThing Orf virus tmpak2llvmy_mondo_relaxed.owl Contagious pustular dermatitis virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10257 biolink:NamedThing Parapoxvirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018509 biolink:NamedThing squamous cell carcinoma of the small intestine A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. tmpak2llvmy_mondo_relaxed.owl small intestinal squamous cell cancer|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma|squamous cell carcinoma of the small bowel UMLS:C1710111|ICD10:C17.3|Orphanet:423968|UMLS:CN237514|NCIT:C43534|ICD10:C17.2|ICD10:C17.0|ICD10:C17.1|ICD10:C17.8 owl:Class MONDO:0014926 biolink:NamedThing Bardet-Biedl syndrome 22 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. tmpak2llvmy_mondo_relaxed.owl IFT74 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in IFT74|Bardet-Biedl syndrome 20; BBS20|Bardet-Biedl syndrome type 20|BBS20 UMLS:C4310707|OMIM:617119 owl:Class UBERON:0006670 biolink:NamedThing central tendon of diaphragm the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers tmpak2llvmy_mondo_relaxed.owl centrum tendineum|centrum tendineum diaphragmatis|central tendon owl:Class HP:0030852 biolink:NamedThing High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). tmpak2llvmy_mondo_relaxed.owl UMLS:C0855323 human_phenotype owl:Class HP:0030850 biolink:NamedThing Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. tmpak2llvmy_mondo_relaxed.owl UMLS:C0855322 human_phenotype owl:Class HGNC:6770 biolink:NamedThing SMAD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019468 biolink:NamedThing T-cell prolymphocytic leukemia A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. tmpak2llvmy_mondo_relaxed.owl leukemia, T-cell, chronic|T-cell chronic lymphocytic leukemia|chronic T-cell leukemia|chronic T-cell lymphocytic leukemia|T-cell CLL|T cell CLL|TPLL|T cell chronic lymphocytic leukemia|T prolymphocytic leukemia|T-cell prolymphocytic leukemia|T cell prolymphocytic leukemia|CLL, T-cell|T-PLL UMLS:C0023494|MedDRA:10042985|MESH:D015461|SCTID:277567002|ICDO:9834/3|ONCOTREE:TPLL|ICD10:C91.6|NCIT:C70649|GARD:0008224|EFO:1000560|Orphanet:86871|SCTID:277545003|UMLS:C2363142|NCIT:C4752 owl:Class MONDO:0001023 biolink:NamedThing prolymphocytic leukemia A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. tmpak2llvmy_mondo_relaxed.owl PLL|prolymphocytic leukemia (B or T)|prolymphocytic leukemia (B or T-cell)|prolymphocytic leukemia ICDO:9832/3|NCIT:C3181|SCTID:110006004|GARD:0011965|UMLS:C0023486|MESH:D015463|ICD9:204.80|DOID:1039 owl:Class MONDO:0054728 biolink:NamedThing spermatogenic failure 24 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 24|SPGF24 OMIM:617959|UMLS:CN244570 owl:Class CL:0008002 biolink:NamedThing skeletal muscle fiber A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002372 biolink:NamedThing myotube A transversely striated, synctial muscle cell, formed by the fusion of myoblasts. tmpak2llvmy_mondo_relaxed.owl myotubule|single cell sarcomere tmeehan 2010-09-24T01:13:01Z CL:0000369 cell owl:Class HGNC:20087 biolink:NamedThing TTC8 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900115 biolink:NamedThing extracellular regulation of signal transduction Any regulation of signal transduction that takes place in the extracellular region. tmpak2llvmy_mondo_relaxed.owl regulation of signalling pathway in extracellular region|regulation of signaling pathway in extracellular region owl:Class MONDO:0016130 biolink:NamedThing fungal myositis tmpak2llvmy_mondo_relaxed.owl SCTID:240111007|Orphanet:207000|ICD10:M60.0|UMLS:C0410251 owl:Class MONDO:0021167 biolink:NamedThing myositis An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. tmpak2llvmy_mondo_relaxed.owl inflammation of muscle tissue|inflammatory disorder of muscle (disorder)|inflammatory disorder of muscle|muscle tissue inflammation ICD10:M60|DOID:633|EFO:0000783|ICD10:M60.9|NCIT:C27578|ICD9:728.9|ICD10:G72.49|MESH:D009220|UMLS_CUI:C0027121|SCTID:128496001 owl:Class MONDO:0009731 biolink:NamedThing nephrosis-deafness-urinary tract-digital malformations syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. tmpak2llvmy_mondo_relaxed.owl nephrosis with deafness and urinary tract and digital malformations|Braun-Bayer syndrome|nephrosis deafness urinary tract digital malformation ICD10:Q87.8|OMIM:256200|MESH:C536402|GARD:0003943|Orphanet:2669|UMLS:C1850552 owl:Class UBERON:0010541 biolink:NamedThing tarsus cartilage element A cartilaginous condensation that has the potential to develop into a tarsal bone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003843 biolink:NamedThing cerebral hemisphere lipoma A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl lipoma of cerebral hemisphere|cerebral hemisphere lipoma|lipoma of the cerebral hemisphere DOID:6291|UMLS:C1332907|NCIT:C6220 owl:Class MONDO:0021497 biolink:NamedThing benign neoplasm of cerebrum A benign neoplasm that involves the telencephalon. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the cerebrum|benign cerebral tumor|benign cerebral hemispheric tumor|benign neoplasm of the cerebral hemispheres|benign tumor of cerebrum|telencephalon benign neoplasm|benign cerebral hemispheric neoplasm|benign cerebral neoplasm|benign tumor of cerebral hemispheres|benign neoplasm of cerebral hemispheres|benign tumor of the cerebrum|benign tumor of the cerebral hemispheres UMLS:C0686378|SCTID:275269004|NCIT:C8548 owl:Class HP:0040075 biolink:NamedThing Hypopituitarism tmpak2llvmy_mondo_relaxed.owl UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003 HPO:skoehler human_phenotype owl:Class MONDO:0021607 biolink:NamedThing eyelid seborrheic keratosis A seborrheic keratosis that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid basal cell papilloma|basal cell papilloma of eyelid|eyelid seborrheic keratosis|seborrheic keratosis of eyelid|seborrheic keratosis of the eyelid|basal cell papilloma of the eyelid UMLS:C0339109|SCTID:231826004|NCIT:C4356 owl:Class HP:0001924 biolink:NamedThing Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). tmpak2llvmy_mondo_relaxed.owl Sideroblastic anaemia|Hypersideremic anemia|Hypersideremic anaemia SNOMEDCT_US:41841004|MSH:D000756|UMLS:C0002896 Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HP:0100791 human_phenotype owl:Class HP:0010972 biolink:NamedThing Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. tmpak2llvmy_mondo_relaxed.owl Defective erythropoiesis|Dyserythropoietic anemia|Ineffective erythropoiesis|Anaemia of inadequate production|Anemia, dyserythropoietic|Dyserythropoietic anaemia UMLS:C0678199|UMLS:C0392708|SNOMEDCT_US:70730006 peter 2011-02-06T02:24:54Z HP:0005553|HP:0005501|HP:0005504 human_phenotype owl:Class MONDO:0006076 biolink:NamedThing adrenal gland neuroblastoma A neuroblastoma arising from the adrenal gland. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of the adrenal|adrenal gland neuroblastoma|adrenal neuroblastoma|neuroblastoma of the adrenal gland|neuroblastoma of adrenal|neuroblastoma of adrenal gland DOID:5718|SCTID:281562007|UMLS:C0559460|NCIT:C4827|EFO:1000075 owl:Class MONDO:0003606 biolink:NamedThing adrenal medulla cancer A malignant neoplasm involving the adrenal medulla tmpak2llvmy_mondo_relaxed.owl malignant adrenal medulla neoplasm|malignant adrenal medulla tumor|malignant tumor of the adrenal medulla|adrenal medulla cancer|adrenal medulla neoplasm|malignant tumor of adrenal medulla|adrenal medulla tumor|malignant neoplasm of the adrenal medulla|malignant neoplasm of adrenal medulla|cancer of adrenal medulla ICD10:C74.1|GARD:0005755|DOID:5719|NCIT:C4396|UMLS:C0344456|SCTID:371965009 https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer owl:Class NCBITaxon:555280 biolink:NamedThing Discosea tmpak2llvmy_mondo_relaxed.owl Flabellinea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016703 biolink:NamedThing anaplastic oligoastrocytoma An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl anaplastic oligoastrocytoma|anaplastic mixed glioma|AOAST|aMOA|WHO grade III mixed glioma EFO:0002500|Orphanet:251663|NCIT:C6959|ONCOTREE:AOAST|GARD:0010637|UMLS:C0431108|ICD10:C71.9 https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma owl:Class MONDO:0020633 biolink:NamedThing anaplastic cancer tmpak2llvmy_mondo_relaxed.owl anaplastic malignant neoplasm NCIT:C36025|UMLS:C1332287 owl:Class GO:0016712 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. tmpak2llvmy_mondo_relaxed.owl substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|xenobiotic monooxygenase activity|microsomal monooxygenase activity|flavoprotein monooxygenase activity|flavoprotein-linked monooxygenase activity|microsomal P-450|cytochrome p450 activity|aryl-4-monooxygenase activity|aryl hydrocarbon hydroxylase activity|cytochrome P450 CYP19|unspecific monooxygenase activity|microsomal p450 activity owl:Class GO:0004497 biolink:NamedThing monooxygenase activity Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. tmpak2llvmy_mondo_relaxed.owl hydroxylase activity owl:Class MONDO:0008785 biolink:NamedThing sideroblastic anemia 2 tmpak2llvmy_mondo_relaxed.owl anemia, sideroblastic, 2, pyridoxine-refractory|SIDBA2|sideroblastic anemia pyridoxine-refractory autosomal recessive|anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|pyridoxine refractory sideroblastic anemia GARD:0008249|OMIM:205950|DOID:0060065|MESH:C567145 owl:Class MONDO:0016828 biolink:NamedThing autosomal recessive sideroblastic anemia Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. tmpak2llvmy_mondo_relaxed.owl congenital sideroblastic anemia|sideroblastic anemia, autosomal recessive|ARSA Orphanet:260305|ICD10:D64.0|UMLS:C4274077|SCTID:717050005 owl:Class CL:0002460 biolink:NamedThing CD8alpha-negative thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-negative. tmpak2llvmy_mondo_relaxed.owl DC.8-.Th tmeehan 2010-11-23T10:58:53Z cell owl:Class CL:0000941 biolink:NamedThing thymic conventional dendritic cell A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative. tmpak2llvmy_mondo_relaxed.owl In the mouse this cell expresses CD8-alpha-alpha. cell owl:Class GO:0140236 biolink:NamedThing translation at presynapse Translation that occurs at the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006412 biolink:NamedThing translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. tmpak2llvmy_mondo_relaxed.owl protein anabolism|protein synthesis|protein formation|protein biosynthetic process|protein translation|protein biosynthesis owl:Class GO:0030667 biolink:NamedThing secretory granule membrane The lipid bilayer surrounding a secretory granule. tmpak2llvmy_mondo_relaxed.owl secretory vesicle membrane owl:Class GO:0098588 biolink:NamedThing bounding membrane of organelle The lipid bilayer that forms the outer-most layer of an organelle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006340 biolink:NamedThing ovarian serous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovary serous adenofibroma|serous adenofibroma of ovary|ovarian serous adenofibroma NCIT:C40031|EFO:1000428|UMLS:C1518729|DOID:5474 owl:Class MONDO:0000646 biolink:NamedThing ovarian benign neoplasm A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. tmpak2llvmy_mondo_relaxed.owl benign ovarian neoplasm|benign neoplasm of ovary|benign neoplasm of the ovary|benign ovarian tumor|benign tumor of the ovary|benign tumor of ovary|ovary benign neoplasm DOID:0060112|SCTID:92260003|EFO:1000116|NCIT:C2895 owl:Class MONDO:0002140 biolink:NamedThing vagina sarcoma A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the vagina|sarcoma of vagina|vaginal sarcoma|vagina sarcoma NCIT:C7737|UMLS:C0238519|DOID:1901 owl:Class MONDO:0001393 biolink:NamedThing peripheral focal chorioretinitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0339394|SCTID:56787009|ICD9:363.04|DOID:11864 owl:Class MONDO:0002164 biolink:NamedThing focal chorioretinitis tmpak2llvmy_mondo_relaxed.owl ICD10:H30.00|UMLS:C0154870|ICD9:363.00|ICD9:363.0|DOID:1979|SCTID:15847003|ICD10:H30.0 owl:Class MONDO:0014857 biolink:NamedThing neurodevelopmental disorder with or without anomalies of the brain, eye, or heart tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|NEDBEH|rere-related neurodevelopmental syndrome Orphanet:494344|MONDO:0044630|OMIM:616975|UMLS:C4310772 owl:Class MONDO:0019073 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia-renal defect syndrome tmpak2llvmy_mondo_relaxed.owl telangiectatic membranoproliferative glomerulonephritis|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome|glomerulonephritis with sparse hair and telangiectases|HLTRS GARD:0002492|UMLS:CN205563|OMIM:137940|DOID:0111360|MESH:C536825 owl:Class MONDO:0019411 biolink:NamedThing genochondromatosis type 1 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.4|Orphanet:85197 owl:Class MONDO:0007653 biolink:NamedThing genochondromatosis tmpak2llvmy_mondo_relaxed.owl genochondromatosis OMIM:137360|UMLS:C1300229|SCTID:389264005|GARD:0010621|MESH:C563215 https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis owl:Class UBERON:0003722 biolink:NamedThing middle cranial fossa The compartment containing the anterior extremities and half the inferior surface of the temporal lobes (TEMPORAL LOBE) of the cerebral hemispheres. Lying posterior and inferior to the anterior cranial fossa (CRANIAL FOSSA, ANTERIOR), it is formed by part of the TEMPORAL BONE and SPHENOID BONE. It is separated from the posterior cranial fossa (CRANIAL FOSSA, POSTERIOR) by crests formed by the superior borders of the petrous parts of the temporal bones[MESH]. The middle fossa, deeper than the anterior cranial fossa, is narrow medially and widens laterally to the sides of the skull. It is separated from the posterior fossa by the clivus and the petrous crest. It is bounded in front by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellC&; laterally by the temporal squamC&, sphenoidal angles of the parietals, and greater wings of the sphenoid. It is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures[WP]. tmpak2llvmy_mondo_relaxed.owl fossa cranii media|middle fossa owl:Class MONDO:0006686 biolink:NamedThing brain stem infarction Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. tmpak2llvmy_mondo_relaxed.owl brainstem brain infarction|brain infarction of brainstem|brainstem infarction UMLS:C0521542|EFO:1000847|SCTID:95457000|MESH:D020526|ICD9:434.91|DOID:3523 owl:Class ENVO:01000888 biolink:NamedThing area of gramanoid or herbaceous vegetation An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000106 biolink:NamedThing grassland area An area in which grasses (Graminae) are a significant component of the vegetation. tmpak2llvmy_mondo_relaxed.owl grazing area|herbaceous area owl:Class HGNC:5467 biolink:NamedThing IGF2R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006668 biolink:NamedThing bacterial conjunctivitis Inflammation of the conjunctiva caused by a variety of bacterial agents. tmpak2llvmy_mondo_relaxed.owl Bacteria caused conjunctival disease|purulent conjunctivitis|Bacteria conjunctival disease EFO:1000829|MedDRA:10061784|ICD9:372.03|MESH:D003234|UMLS:C0009768|ICD10:H10.0|DOID:9700|NCIT:C53656|SCTID:243321006 owl:Class MONDO:0000649 biolink:NamedThing sensory system cancer A malignant neoplasm involving the sensory system tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of sensory system|cancer of sensory system|sensory system cancer|malignant sensory system neoplasm DOID:0060116 owl:Class MONDO:0005872 biolink:NamedThing nervous system cancer A primary or metastatic malignant neoplasm involving the nervous system. tmpak2llvmy_mondo_relaxed.owl malignant tumor of nervous system|nervous system neoplasm|malignant tumor of the nervous system|cancer of nervous system|malignant nervous system tumor|malignant neoplasm of the nervous system|tumor of the nervous system|neural tumor|nervous system neoplasms, malignant|neural neoplasm|malignant neoplasm of nervous system|malignant nervous system neoplasm|nervous system cancer ICD9:192.8|ICD9:192|ICD9:192.9|SCTID:372063002|MESH:D009423|EFO:0007392|NCIT:C4788|DOID:3093 owl:Class UBERON:0001701 biolink:NamedThing glossopharyngeal ganglion The group of neuron cell bodies associated with the ninth cranial nerve. tmpak2llvmy_mondo_relaxed.owl glossopharyngeal IX ganglion|gIX|ganglion of glossopharyngeal nerve|petrosal ganglion|ganglion of glosspharyngeal nerve owl:Class UBERON:0009127 biolink:NamedThing epibranchial ganglion Cranial ganglion which develops from an epibranchial placode. tmpak2llvmy_mondo_relaxed.owl epibranchial ganglia owl:Class CHEBI:35498 biolink:NamedThing diuretic An agent that promotes the excretion of urine through its effects on kidney function. tmpak2llvmy_mondo_relaxed.owl diuretics owl:Class UBERON:0005689 biolink:NamedThing 2nd arch mesenchyme Mesenchyme that is part of a pharyngeal arch 2. tmpak2llvmy_mondo_relaxed.owl pharyngeal arch 2 mesenchyme|2nd pharyngeal arch mesenchyme|2nd branchial arch mesenchyme owl:Class GO:0090304 biolink:NamedThing nucleic acid metabolic process Any cellular metabolic process involving nucleic acids. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043170 biolink:NamedThing macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl multicellular organismal macromolecule metabolic process|macromolecule metabolism|organismal macromolecule metabolism|biopolymer metabolic process owl:Class MONDO:0011064 biolink:NamedThing lethal chondrodysplasia, Seller type tmpak2llvmy_mondo_relaxed.owl lethal chondrodysplasia seller type|chondrodysplasia, lethal, with long bone angulation and mixed bone density ICD10:Q77.8|OMIM:601376|GARD:0003226|UMLS:C1832410|Orphanet:1421|MESH:C563330 https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type owl:Class MONDO:0019718 biolink:NamedThing lethal chondrodysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93465 owl:Class MONDO:0018166 biolink:NamedThing oral submucous fibrosis Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. tmpak2llvmy_mondo_relaxed.owl oral cavity submucous fibrosis|oral submucosal fibrosis, including of tongue|oral submucosal fibrosis|OSMF MESH:D009914|ICD9:528.8|SCTID:32883009|ICD10:K13.5|NCIT:C34866|UMLS:C0029172|Orphanet:357154|EFO:1001818|UMLS:C0029171|DOID:5773|GARD:0007264 https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis owl:Class MONDO:0004820 biolink:NamedThing peripheral nerve schwannoma A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpak2llvmy_mondo_relaxed.owl peripheral nerve schwannoma NCIT:C41430|UMLS:C1519001|DOID:956 Editor note: consider merging into parent, though NCIT treats as two owl:Class GO:0043062 biolink:NamedThing extracellular structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. tmpak2llvmy_mondo_relaxed.owl extracellular structure organisation|extracellular structure organization and biogenesis owl:Class MONDO:0016941 biolink:NamedThing partial duplication of the short arm of chromosome 4 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome 4p|partial trisomy of the short arm of chromosome 4|partial duplication of the short arm of chromosome type 4|partial trisomy of chromosome 4p Orphanet:262716 owl:Class MONDO:0011855 biolink:NamedThing granular corneal dystrophy type II Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. tmpak2llvmy_mondo_relaxed.owl granular corneal dystrophy type 2|combined granular-lattice corneal dystrophy|granular corneal dystrophy, type 2|corneal dystrophy, AVELLINO type|GCD2|corneal dystrophy Avellino type|granular-lattice (Avellino) corneal dystrophy|granular-lattice corneal dystrophy|Avellino corneal dystrophy|granular and lattice corneal dystrophies|GCDII|ACD|CGD2|CDA|combined granular-lattice corneal dystrophies|avellino corneal dystrophy DOID:0060444|GARD:0009278|SCTID:397568004|OMIM:607541|ICD9:371.56|Orphanet:98963|ICD10:H18.5|MESH:C535474|UMLS:C1275685 owl:Class OBO:MF_0000008 biolink:NamedThing cognitive process A mental process that creates, modifies or has as participant some cognitive representation. tmpak2llvmy_mondo_relaxed.owl GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class OBO:MF_0000020 biolink:NamedThing mental process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. tmpak2llvmy_mondo_relaxed.owl A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state. GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class MONDO:0014464 biolink:NamedThing progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. tmpak2llvmy_mondo_relaxed.owl DECRD|DECR deficiency with hyperlysinemia|dienoyl-CoA reductase deficiency|progressive encephalopathy with leukodystrophy due to DECR deficiency|2,4-alpha dienoyl-CoA reductase deficiency|2,4-dienoyl-CoA reductase deficiency ICD10:G31.8|MESH:C565624|OMIM:616034|UMLS:C1857252|GARD:0010327|Orphanet:431361 owl:Class UBERON:0006058 biolink:NamedThing multi-limb segment region A collection of two or more connected limb segments. Examples: arm (comprising stylopod and zeugopod regions). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010758 biolink:NamedThing subdivision of organism along appendicular axis A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. tmpak2llvmy_mondo_relaxed.owl appendage segment|appendicular segment owl:Class MONDO:0015268 biolink:NamedThing medullary sponge kidney Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. tmpak2llvmy_mondo_relaxed.owl MSK|Cacchi-Ricci syndrome|Precalyceal canalicular ectasia|Precalicial canalicular ectasia|Cacchi Ricci disease|cystic dilatation of renal collecting tubes|sponge kidney|Cacchi-Ricci disease NCIT:C34751|SCTID:236443009|Orphanet:1309|MedDRA:10027104|ICD10:Q61.5|GARD:0000232|MESH:D007691|UMLS:C0022681|ICD9:753.17 https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney owl:Class HGNC:15868 biolink:NamedThing ABHD12 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:140499 biolink:NamedThing kaolinite An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:48730 biolink:NamedThing aluminosilicate mineral Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals. tmpak2llvmy_mondo_relaxed.owl aluminosilicates|Alumosilikate|Alumosilikat|aluminosilicato owl:Class GO:0004370 biolink:NamedThing glycerol kinase activity Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+). tmpak2llvmy_mondo_relaxed.owl ATP:glycerol-3-phosphotransferase activity|glycerokinase activity|ATP:glycerol 3-phosphotransferase activity|glycerol kinase (phosphorylating)|GK|glyceric kinase activity owl:Class GO:0016773 biolink:NamedThing phosphotransferase activity, alcohol group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009552 biolink:NamedThing distal segment of manual digit A segment of the manual digit containing the distal phalanx tmpak2llvmy_mondo_relaxed.owl tip of finger|finger digit tip|forelimb digit tip|finger tip|finger distal segment|fingertip owl:Class MONDO:0005310 biolink:NamedThing atrial flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) tmpak2llvmy_mondo_relaxed.owl atrial flutter (disease)|atrial flutter atrial flutter (disease) MESH:D001282|HP:0004749|NCIT:C51224|SCTID:5370000|ICD9:427.32|EFO:0003911 owl:Class MONDO:0005479 biolink:NamedThing atrial tachycardia A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC) tmpak2llvmy_mondo_relaxed.owl SCTID:276796006|EFO:0005308|NCIT:C35481|ICD9:427.89 owl:Class MONDO:0002816 biolink:NamedThing adrenal cortex disease A disease involving the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl adrenal cortex disease or disorder|disease or disorder of adrenal cortex|adrenal cortex disease|disorder of adrenal cortex|disease of adrenal cortex DOID:3952|UMLS:C0001614|MESH:D000303|SCTID:129636003 owl:Class HGNC:11115 biolink:NamedThing KDM5D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022576 biolink:NamedThing bilirubin induced brain injury in the newborn tmpak2llvmy_mondo_relaxed.owl GARD:0009243 https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn owl:Class MONDO:0008006 biolink:NamedThing Mobius syndrome Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. tmpak2llvmy_mondo_relaxed.owl Moebius congenital oculofacial paralysis|Moebius sequence|oromandibular-limb hypogenesis spectrum|congenital facial diplegia|Moebius syndrome|Möbius syndrome|congenital facial diplegia syndrome|absence or underdevelopment of the 6th and 7th cranial nerves|Mobius syndrome|congenital oculofacial paralysis|MBS MedDRA:10027789|MedDRA:10030069|GARD:0008549|Orphanet:570|UMLS:C0853240|OMIM:157900|ICD9:759.89|EFO:1001046|SCTID:89444000|UMLS:C0221060|ICD10:Q87.0|NCIT:C84893|MESH:D020331|DOID:13501 owl:Class MONDO:0015581 biolink:NamedThing bile acid synthesis defect with cholestasis and malabsorption tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:163631|ICD10:K76.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn disorder of bile acid synthesis' MONDO_0019218 owl:Class FOODON:03420148 biolink:NamedThing root, stem, leaf or flower The parts of a plant that are not fruit or seed. tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0009011 biolink:NamedThing plant structure A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant. tmpak2llvmy_mondo_relaxed.owl 植物 構造 (Japanese, exact)|estructura vegetal (Spanish, exact) PO_GIT:57 'Part' includes both proper parts and the whole plant. CARO:0000003 'connected anatomical structure' is defined as: Material anatomical entity that is a single connected structure with inherent 3D shape, generated by coordinated expression of the organism's own genome. plant_anatomy owl:Class MONDO:0007020 biolink:NamedThing Wernicke encephalopathy An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) tmpak2llvmy_mondo_relaxed.owl Wernicke's disease|Wernicke's encephalopathy DOID:2384|MESH:D014899|EFO:1001241|UMLS:C0043121|ICD9:265.1|ICD10:E51.2|SCTID:21007002 owl:Class MONDO:0021698 biolink:NamedThing alcohol-related disorders Disorders related to or resulting from abuse or mis-use of alcohol. tmpak2llvmy_mondo_relaxed.owl disorder, alcohol-related|alcohol related disorders|disorders, alcohol-related|alcohol-related disorder MESH:D019973|SCTID:29212009 owl:Class UBERON:0003459 biolink:NamedThing chest bone A bone that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone of anterior thoracic region|bone organ of front of thorax|bone organ of anterolateral part of thorax|front of thorax bone organ|anterolateral part of thorax bone organ|anterolateral part of thorax bone|bone of anterolateral part of thorax|anterior thoracic region bone|bone of front of thorax|anterior thoracic region bone organ|front of thorax bone|chest bone organ|bone organ of anterior thoracic region|bone organ of chest|bone of chest owl:Class UBERON:0003827 biolink:NamedThing thoracic segment bone A bone that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl thorax bone|bone of thorax|thorax bone organ|upper body bone|bone organ of thorax owl:Class GO:0016331 biolink:NamedThing morphogenesis of embryonic epithelium The process in which the anatomical structures of embryonic epithelia are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048598 biolink:NamedThing embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. tmpak2llvmy_mondo_relaxed.owl embryonic anatomical structure morphogenesis owl:Class MONDO:0013056 biolink:NamedThing developmental and epileptic encephalopathy, 39 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 39|AGC1 deficiency|DEE39|EIEE39|early infantile epileptic encephalopathy caused by mutation in SLC25A12|epileptic encephalopathy with global cerebral demyelination|SLC25A12 early infantile epileptic encephalopathy|hypomyelination, global cerebral|aspartate-glutamate carrier 1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency SCTID:726702005|DOID:0080349|UMLS:C4512050|OMIM:612949|ICD10:G31.8|Orphanet:353217|MESH:C567847|UMLS:C2751855 owl:Class HP:0011147 biolink:NamedThing Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. tmpak2llvmy_mondo_relaxed.owl Typical absence seizures|Typical absence SNOMEDCT_US:432241000124101|MSH:D004832|SNOMEDCT_US:50866000|SNOMEDCT_US:230413002|UMLS:C0014553|SNOMEDCT_US:79631006 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. peter 2011-10-18T01:52:22Z human_phenotype owl:Class HP:0002121 biolink:NamedThing Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. tmpak2llvmy_mondo_relaxed.owl Absence seizure|Petit mal|Generalised non-motor (absence) seizure|Generalised non-motor seizure|Petit mal seizure|Absence seizures|Brief seizures with staring spells|Petit mal seizures SNOMEDCT_US:50866000|SNOMEDCT_US:230413002|SNOMEDCT_US:79631006|UMLS:C0014553|SNOMEDCT_US:432241000124101|MSH:D004832 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. HP:0011148|HP:0007143 human_phenotype owl:Class MONDO:0006465 biolink:NamedThing thyroid gland oncocytic follicular carcinoma A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. tmpak2llvmy_mondo_relaxed.owl thyroid gland Hurthle cell carcinoma|Hurthle cell thyroid gland carcinoma|thyroid oncocytic carcinoma|Hurthle cell carcinoma of the thyroid gland|oncocytic carcinoma of thyroid|thyroid Hurthle cell carcinoma|Hurthle cell carcinoma of the thyroid|Hurthle cell carcinoma of thyroid|Hurthle cell carcinoma of thyroid gland|oncocytic carcinoma of the thyroid EFO:1000592|NCIT:C4946 owl:Class GO:0023056 biolink:NamedThing positive regulation of signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. tmpak2llvmy_mondo_relaxed.owl positive regulation of signaling process|positive regulation of signalling process owl:Class MONDO:0006906 biolink:NamedThing pigmented villonodular synovitis Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. tmpak2llvmy_mondo_relaxed.owl tenosynovial giant cell tumors|diffuse Giant cell tumor of Tenosynovium|TGCT|villonodular synovitis|TSGCT|diffuse pigmented villonodular synovitis|diffuse-type giant cell tumor|villous tenosynovitis|diffuse-type GCT|tenosynovial giant cell tumor|localized pigmented villonodular synovitis ICD10:M12.2|UMLS:C0039106|EFO:1001106|GARD:0007396|DOID:9898|ICD9:719.28|ICD10:M12.20|DOID:2702|MESH:D013586|ICD9:719.2|ICD9:719.20|Orphanet:66627|SCTID:95412009 MONDO:0004916 https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis owl:Class MONDO:0002400 biolink:NamedThing synovitis Inflammation of a synovial membrane. tmpak2llvmy_mondo_relaxed.owl Synovitides|synovitis|inflammation of synovial membrane of synovial joint|synovitis (disease)|synovial membrane of synovial joint inflammation synovitis (disease) GARD:0007722|HP:0100769|MESH:D013585|DOID:2703|NCIT:C50766|SCTID:416209007|EFO:0008997 owl:Class MONDO:0015752 biolink:NamedThing intellectual disability-cataracts-kyphosis syndrome This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. tmpak2llvmy_mondo_relaxed.owl Orphanet:171860|UMLS:CN226733 owl:Class MONDO:0021193 biolink:NamedThing neuroepithelial neoplasm A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. tmpak2llvmy_mondo_relaxed.owl neuroepithelial neoplasm|neuroepithelial tumors|neoplasm of the neuroepithelium|neuroepithelial tissue neoplasm|tumor of neuroepithelial tissue|neuroepithelial tissue tumor|neuroepithelial neoplasms|neoplasm of neuroepithelium|neoplasm of neuroepithelial tissue|neuroepithelial tumor|tumor of neuroepithelium|primary neuroepithelial tumor|tumor of the neuroepithelium MESH:D018302|ONCOTREE:PRNET|NCIT:C3787 Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm owl:Class CL:0002551 biolink:NamedThing fibroblast of dermis tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:05:33Z cell owl:Class MONDO:0022739 biolink:NamedThing Christian demyer franken syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001315 https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome owl:Class MONDO:0007541 biolink:NamedThing endometriosis, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl endometriosis, susceptibility to, 1|endometriosis, susceptibility to, type 1|ENDO1 OMIM:131200 owl:Class MONDO:0013623 biolink:NamedThing platelet-type bleeding disorder 11 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. tmpak2llvmy_mondo_relaxed.owl platelet-type bleeding disorder-11|BDPLT11|inherited bleeding disorder, platelet-type caused by mutation in GP6|platelet-type bleeding disorder 11|glycoprotein 6 deficiency|bleeding diathesis due to glycoprotein VI deficiency|GP VI deficiency|GP6 inherited bleeding disorder, platelet-type|glycoprotein VI deficiency|GP 6 deficiency|bleeding disorder, platelet-type, 11 OMIM:614201|GARD:0013293|DOID:0111057|Orphanet:98885|ICD10:D69.8|SCTID:765977002|UMLS:C3280120 owl:Class MONDO:0013775 biolink:NamedThing thrombomodulin-related bleeding disorder tmpak2llvmy_mondo_relaxed.owl THBD-related bleeding disorder|THPH12|thrombophilia due to thrombomodulin defect|thrombomodulin-related coagulopathy|THBD-related coagulopathy ICD10:D68.3|UMLS:C3280976|MESH:C566057|OMIM:614486|Orphanet:436169 owl:Class GO:0045820 biolink:NamedThing negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. tmpak2llvmy_mondo_relaxed.owl down regulation of glycolysis|downregulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis owl:Class MONDO:0004522 biolink:NamedThing peritonitis Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. tmpak2llvmy_mondo_relaxed.owl acute generalized peritonitis|retractile mesenteritis|peritoneum inflammation|inflammation of peritoneum|primary bacterial peritonitis ICD9:567.89|NCIT:C26849|ICD9:567.8|ICD9:567.82|SCTID:86422009|DOID:8283|EFO:0008588 owl:Class MONDO:0020591 biolink:NamedThing disease of peritoneum A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpak2llvmy_mondo_relaxed.owl disorder of peritoneum|peritoneal disorder|peritoneum disease|peritoneal disease|disease of peritoneum|disease or disorder of peritoneum|peritoneum disease or disorder MESH:D010532|SCTID:66579008|NCIT:C26848|UMLS:C0031142 owl:Class UBERON:0006650 biolink:NamedThing tunica vaginalis testis the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea tmpak2llvmy_mondo_relaxed.owl tunica vaginalis testis|tunica vaginalis of testis|lamina parietalis|tunica vaginalis|processus vaginalis testis|lamina visceralis|testis tunica vaginalis owl:Class UBERON:0015814 biolink:NamedThing outer ear epithelium A epithelium that is part of a external ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011292 biolink:NamedThing dermatitis, atopic tmpak2llvmy_mondo_relaxed.owl dermatitis, Atopic, 1|Atod|dermatitis, atopic|eczema, Atopic OMIM:603165 owl:Class UBERON:0003561 biolink:NamedThing forebrain dura mater A dura mater that is part of a forebrain. tmpak2llvmy_mondo_relaxed.owl dura mater of forebrain|forebrain dura mater of neuraxis|dura mater of neuraxis of forebrain owl:Class UBERON:0002363 biolink:NamedThing dura mater Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections. tmpak2llvmy_mondo_relaxed.owl dura|pachymeninges|dura mater of neuraxis owl:Class GO:0060301 biolink:NamedThing positive regulation of cytokine activity Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060300 biolink:NamedThing regulation of cytokine activity Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022356 biolink:NamedThing outer layer of endometrium The layer of endometrial epithelium adjacent to the myometrium. tmpak2llvmy_mondo_relaxed.owl stratum functionalis of endometrium|functional layer of endometrium owl:Class UBERON:0004811 biolink:NamedThing endometrium epithelium An epithelium that is part of an endometrium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl uterine epithelium|epithelial tissue of endometrium|epithelium of endometrium|epithelium of tunica mucosa of endometrium|endometrium epithelial tissue owl:Class MONDO:0002688 biolink:NamedThing duodenal obstruction Blockage of the normal flow of stomach contents through the duodenum. tmpak2llvmy_mondo_relaxed.owl UMLS:C0013292|DOID:3558|EFO:1000908|MESH:D004380|ICD10:K31.5|SCTID:95532008 owl:Class MONDO:0002866 biolink:NamedThing duodenal disease Pathological conditions in the duodenum region of the small intestine (intestine, small). tmpak2llvmy_mondo_relaxed.owl disease of duodenum|disorder of duodenum|duodenum disease|disease or disorder of duodenum|duodenum disease or disorder|duodenum disorder MESH:D004378|ICD9:537.9|SCTID:52182008|UMLS:C0013289|ICD9:537.89|DOID:4072 owl:Class MONDO:0043162 biolink:NamedThing pagon stephan syndrome tmpak2llvmy_mondo_relaxed.owl septo-optic dysplasia with digital anomalies MESH:C538100|GARD:0004195|UMLS:C2931733 owl:Class MONDO:0008428 biolink:NamedThing septooptic dysplasia Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. tmpak2llvmy_mondo_relaxed.owl hypopituitarism and septooptic 'dysplasia'|Growth hormone deficiency with pituitary anomalies|septo-optic dysplasia with growth hormone deficiency|septo-optic dysplasia sequence|septo-optic dysplasia spectrum|pituitary hormone deficiency, combined, 5|septo-optic dysplasia|SOD|septooptic dysplasia|De Morsier syndrome UMLS:C0338503|GARD:0007627|Orphanet:3157|NCIT:C85063|OMIM:182230|MESH:D025962|DOID:0060857|ICD10:Q04.8|MedDRA:10067159|SCTID:7611002 owl:Class UBERON:0003580 biolink:NamedThing lower respiratory tract connective tissue A portion of connective tissue that is part of a lower respiratory tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of lower respiratory tract|textus connectivus of lower respiratory tract|lower respiratory tract textus connectivus|lower respiratory tract portion of connective tissue|portion of connective tissue of lower respiratory tract owl:Class MONDO:0008945 biolink:NamedThing myoclonic cerebellar dyssynergia A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) tmpak2llvmy_mondo_relaxed.owl progressive cerebellar tremor|cerebelloparenchymal disorder V|cerebelloparenchymal disorder 5|cerebelloparenchymal disorder type 5|dyssynergia cerebellaris myoclonica of Hunt|Ramsay Hunt syndrome type 1|CPD5|Spinodentate atrophy|Ramsay Hunt cerebellar syndrome|dyssynergia cerebellaris myoclonica OMIM:213400|UMLS:C0007761|SCTID:73495003|EFO:1001053|DOID:12707|MESH:D002527|ICD10:G11.1 owl:Class MONDO:0004085 biolink:NamedThing choroid epithelioid cell melanoma A epithelioid cell melanoma that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl epithelioid cell melanoma of the choroid|optic choroid epithelioid cell melanoma|choroid epithelioid cell melanoma|choroidal epithelioid cell melanoma|epithelioid cell melanoma of choroid|epithelioid cell melanoma of optic choroid NCIT:C6102|DOID:7041|UMLS:C1333024 owl:Class MONDO:0003878 biolink:NamedThing malignant choroid melanoma A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. tmpak2llvmy_mondo_relaxed.owl melanoma (disease) of optic choroid|melanoma of the choroid|malignant melanoma of the choroid|choroid melanoma|choroidal melanoma|malignant melanoma of choroid|optic choroid melanoma (disease)|optic choroid melanoma|melanoma of choroid|choroid malignant melanoma UMLS:C0346388|NCIT:C4561|DOID:6438|SCTID:255021005 MONDO:0021436 owl:Class CHEBI:32600 biolink:NamedThing tetracene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. tmpak2llvmy_mondo_relaxed.owl naphthacene|benz[b]anthracene|tetracene|2,3-benzanthracene owl:Class CHEBI:51270 biolink:NamedThing tetracenes Compounds containing a tetracene skeleton. tmpak2llvmy_mondo_relaxed.owl naphthacenes owl:Class HGNC:6697 biolink:NamedThing LRP5 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6308 biolink:NamedThing Strongylida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:2000089 biolink:NamedThing dentate gyrus of hippocampal formation granule cell The principal cell type of the dentate gyrus. tmpak2llvmy_mondo_relaxed.owl The granule cell has a characteristic cone-shaped tree of spiny apical dendrites. TermGenie 2015-02-23T05:48:23Z cell owl:Class ECTO:9000364 biolink:NamedThing exposure to tetracycline An exposure to tetracycline. tmpak2llvmy_mondo_relaxed.owl exposure to tetracycline owl:Class MONDO:0015501 biolink:NamedThing syndrome or malformation associated with head and neck malformations tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:156237|UMLS:CN199635 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 https://github.com/monarch-initiative/mondo/issues/324 owl:Class GO:1903315 biolink:NamedThing negative regulation of nitrogen cycle metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process. tmpak2llvmy_mondo_relaxed.owl down regulation of nitrogen cycle metabolic process|down-regulation of nitrogen cycle metabolic process|downregulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process owl:Class GO:1903314 biolink:NamedThing regulation of nitrogen cycle metabolic process Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001910 biolink:NamedThing regulation of leukocyte mediated cytotoxicity Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. tmpak2llvmy_mondo_relaxed.owl regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell killing|regulation of immune cell mediated cell death|regulation of immune cell mediated cytotoxicity owl:Class GO:0002703 biolink:NamedThing regulation of leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity owl:Class MONDO:0001618 biolink:NamedThing balanoposthitis tmpak2llvmy_mondo_relaxed.owl SCTID:46090001|UMLS:C0004691|DOID:13031|ICD9:607.1|ICD10:N47.6 owl:Class MONDO:0014447 biolink:NamedThing Bardet-Biedl syndrome 19 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. tmpak2llvmy_mondo_relaxed.owl IFT27 Bardet-Biedl syndrome|Bardet-Biedl syndrome 19|Bardet-Biedl syndrome type 19|Bardet-Biedl syndrome caused by mutation in IFT27|BBS19 ICD10:Q87.89|UMLS:C3889475|DOID:0110141|OMIM:615996 owl:Class UBERON:0008256 biolink:NamedThing left clavicle A clavicle that is in the left side of a entire appendicular skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011458 biolink:NamedThing Leber congenital amaurosis 4 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. tmpak2llvmy_mondo_relaxed.owl LCA4|retinitis pigmentosa, juvenile, Aipl1-related|cone-rod dystrophy, Aipl1-related|amaurosis congenita of Leber, type 4|Leber congenital amaurosis 4|Leber congenital amaurosis caused by mutation in AIPL1|Leber congenital amaurosis type 4|AIPL1 Leber congenital amaurosis MESH:C565778|GARD:0009662|UMLS:C1858386|ICD10:H35.5|DOID:0110332|OMIM:604393 https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 owl:Class MONDO:0001877 biolink:NamedThing infertility due to extratesticular cause tmpak2llvmy_mondo_relaxed.owl infertility due to extratesticular causes ICD9:606.8|DOID:14096|UMLS:C0021360|SCTID:84245004 owl:Class MONDO:8000010 biolink:NamedThing antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. tmpak2llvmy_mondo_relaxed.owl antiphospholipid syndrome|lupus anticoagulant, familial|antiphospholipid antibody syndrome NCIT:C61283|ICD10:D68.61|SCTID:26843008|GARD:0005824|MESH:D016736|ICD9:279.49|UMLS:C0085278|DOID:2988 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0006110 biolink:NamedThing regulation of glycolytic process Any process that modulates the frequency, rate or extent of glycolysis. tmpak2llvmy_mondo_relaxed.owl regulation of glycolysis involved in cellular glucose homeostasis owl:Class NCBITaxon:39724 biolink:NamedThing Circoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732536 biolink:NamedThing Cirlivirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024982 biolink:NamedThing salmonella infections, animal Infections in animals with bacteria of the genus salmonella. tmpak2llvmy_mondo_relaxed.owl animal Salmonella infection|Salmonella infection, animal|infections, animal Salmonella|infection, animal Salmonella|animal Salmonella infections UMLS:C0036118|MESH:D012481 owl:Class MONDO:0019653 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with minimal changes tmpak2llvmy_mondo_relaxed.owl ICD10:N04.0|UMLS:CN206526|Orphanet:93216 owl:Class MONDO:0006519 biolink:NamedThing rectal cancer A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of rectum|cancer of rectum|malignant neoplasm of rectum|carcinoma of rectum|malignant rectum tumor|malignant rectal tumor|malignant tumor of the rectum|rectum cancer|malignant rectal neoplasm|malignant rectum neoplasm|malignant neoplasm of the rectum|carcinoma of the rectum SCTID:363351006|ICD10:C20|DOID:1993|NCIT:C7418|EFO:1000657|ICD9:154.1 owl:Class MONDO:0012579 biolink:NamedThing autoimmune pulmonary alveolar proteinosis Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS). tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar proteinosis, autoimmune|autoimmune PAP|pulmonary alveolar lipoproteinosis, acquired|pulmonary alveolar lipoproteinosis acquired|PAP acquired|Pap, acquired|acquired pulmonary alveolar proteinosis|iPAP|pulmonary alveolar proteinosis autoimmune|idiopathic PAP|idiopathic pulmonary alveolar proteinosis|pulmonary alveolar proteinosis acquired|PAP|APAP|pulmonary alveolar proteinosis, acquired OMIM:610910|UMLS:C1970472|MESH:C567049|ICD10:J84.0|GARD:0007499|Orphanet:747|SCTID:707443007 https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis owl:Class MONDO:0017027 biolink:NamedThing primary interstitial lung disease specific to adulthood tmpak2llvmy_mondo_relaxed.owl primary ILD specific to adulthood UMLS:CN202339|Orphanet:264740 owl:Class MONDO:0020076 biolink:NamedThing myeloproliferative neoplasm A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) tmpak2llvmy_mondo_relaxed.owl CMPD, U|chronic myeloproliferative disorders|CMPD|myeloproliferative neoplasm|myeloproliferative disorder|MPD|MPN|chronic myeloproliferative disease|myeloproliferative neoplasms|myeloproliferative neoplasm, chronic|myeloproliferative tumor|chronic myeloproliferative neoplasm|chronic myeloproliferative disorder MedDRA:10028576|ONCOTREE:MPN|EFO:0002428|Orphanet:98274|ICDO:9960/3|UMLS:C1292778|EFO:0004251|ICDO:9975/1|ICD9:238.79|NCIT:C4345|GARD:0009319|SCTID:425333006|ICD10:D47.1|DOID:2226 owl:Class MONDO:0015756 biolink:NamedThing myeloid hemopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:171895 owl:Class MONDO:0014662 biolink:NamedThing congenital insensitivity to pain-hypohidrosis syndrome A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34. tmpak2llvmy_mondo_relaxed.owl HSAN 8|CIP-hypohidrosis syndrome|neuropathy, hereditary sensory and autonomic, type 8|neuropathy, hereditary sensory and autonomic, type VIII|HSAN8|hereditary sensory and autonomic neuropathy type VIII|hereditary sensory and autonomic neuropathy type 8 Orphanet:478664|OMIM:616488|UMLS:C4225308|DOID:0070153 owl:Class HGNC:29331 biolink:NamedThing EPG5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904539 biolink:NamedThing negative regulation of glycolytic process through fructose-6-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpak2llvmy_mondo_relaxed.owl down-regulation of glycolysis through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|down-regulation of glycolytic process through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|downregulation of glycolytic process through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate owl:Class GO:1904538 biolink:NamedThing regulation of glycolytic process through fructose-6-phosphate Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpak2llvmy_mondo_relaxed.owl regulation of glycolysis through fructose-6-phosphate owl:Class MONDO:0022843 biolink:NamedThing congenital mumps tmpak2llvmy_mondo_relaxed.owl GARD:0001498 https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps owl:Class MONDO:0014005 biolink:NamedThing immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. tmpak2llvmy_mondo_relaxed.owl Ig-mediated membranoproliferative glomerulonephritis|hemolytic uremic syndrome, atypical, susceptibility to, 7|Immunoglobulin-mediated MPGN|Ig-mediated MPGN|immune Complex mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Mesangiocapillary glomerulonephritis type 1|NPHS7|Ahus, susceptibility to, 7|membranoproliferative glomerulonephritis type I|immunoglobulin-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7 Orphanet:329903|NCIT:C123055|ICD10:N00.5|OMIM:615008 owl:Class UBERON:0003412 biolink:NamedThing pelvic appendage bud mesenchyme Mesenchyme that is part of a pelvic appendage bud. tmpak2llvmy_mondo_relaxed.owl pelvic fin bud mesenchyme|hindlimb bud mesenchyme|lower limb bud mesenchyme|mesoderm pelvic fin bud|leg mesenchyme owl:Class MONDO:0017790 biolink:NamedThing gastric adenocarcinoma and proximal polyposis of the stomach A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl familial fundic gland polyposis with gastric cancer|polyposis, gastric, Dos Santos and de Magalhaes 1980|fundic gland polyposis|GAPPS|polyposis, gastric OMIM:619182|UMLS:C0236048|UMLS:CN203740|Orphanet:314022|OMIM:175020 owl:Class MONDO:0018502 biolink:NamedThing hereditary gastric cancer Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome. tmpak2llvmy_mondo_relaxed.owl hereditary gastric cancer|hereditary cancer of stomach Orphanet:423776 owl:Class UBERON:8410032 biolink:NamedThing trabecular sinus of lymph node The trabecular sinus is the lymph-filled space outside the trabeculae between lobules of the lymph node. This is a continuation of the subcapsular sinus which receives the afferent vessels and is present beneath the capsule. This space is traversed by both reticular fibers and cells in the lymph. tmpak2llvmy_mondo_relaxed.owl lymph node trabecular sinus owl:Class ENVO:01001199 biolink:NamedThing terrestrial environmental zone An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000408 biolink:NamedThing environmental zone A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. tmpak2llvmy_mondo_relaxed.owl environmental area owl:Class MONDO:0014192 biolink:NamedThing primary ciliary dyskinesia 22 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in ZMYND10|CILD22|ciliary dyskinesia, primary, 22|primary ciliary dyskinesia type 22|primary ciliary dyskinesia 22 with or without situs inversus|ZMYND10 primary ciliary dyskinesia|ciliary dyskinesia, primary, 22, with or without situs inversus|ciliary dyskinesia, primary, type 22 DOID:0110597|OMIM:615444|ICD10:Q34.8|UMLS:C3809543 owl:Class MONDO:0014166 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 2 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. tmpak2llvmy_mondo_relaxed.owl PNH2|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT|paroxysmal nocturnal hemoglobinuria type 2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria 2 UMLS:C3809369|OMIM:615399 owl:Class HP:0000095 biolink:NamedThing Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. tmpak2llvmy_mondo_relaxed.owl Morphologic abnormality of the renal glomerulus|Abnormality of renal glomerulus morphology UMLS:C4025889 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. human_phenotype owl:Class HP:0031263 biolink:NamedThing Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. tmpak2llvmy_mondo_relaxed.owl 2017-08-12 18:30:25+00:00 peter human_phenotype owl:Class NCBITaxon:12730 biolink:NamedThing Human respirovirus 1 tmpak2llvmy_mondo_relaxed.owl Parainfluenza virus type 1|human parainfluenza virus type 1 HPIV-1|HPIV-1|HPIV1|human parainfluenza virus|Human parainfluenza virus 1|Human parainfluenza 1 virus|Human parainfluenza virus type 1|human parainfluenza virus type 1 hPIV1 GC_ID:1 NCBITaxon:11209 ncbi_taxonomy owl:Class NCBITaxon:186938 biolink:NamedThing Respirovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class SO:0000001 biolink:NamedThing region A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. tmpak2llvmy_mondo_relaxed.owl sequence owl:Class SO:0000110 biolink:NamedThing sequence_feature Any extent of continuous biological sequence. tmpak2llvmy_mondo_relaxed.owl sequence feature|INSDC_feature:misc_feature|located sequence feature|INSDC_note:other|located_sequence_feature|INSDC_note:sequence_feature owl:Class OBO:CHR_9606-chr2q31 biolink:NamedThing chr2q31 (Human) tmpak2llvmy_mondo_relaxed.owl 182100000 168900000 hg38 owl:Class MONDO:0011333 biolink:NamedThing light fixation seizure syndrome tmpak2llvmy_mondo_relaxed.owl Lfss|M syndrome|light fixation seizure syndrome OMIM:603530|MESH:C566367|UMLS:C1863767 owl:Class MONDO:0002726 biolink:NamedThing cutaneous solitary mastocytoma A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. tmpak2llvmy_mondo_relaxed.owl solitary mastocytoma of skin|solitary mastocytoma of the skin|skin solitary mastocytoma DOID:3666|EFO:1001844|NCIT:C7138|ICDO:9740/1|MESH:D054705 owl:Class MONDO:0002724 biolink:NamedThing mast cell neoplasm A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl Mast cell proliferative disease|Mast cell tumor|neoplasm of Mast cells|neoplasm of the Mast cells|mast cell tumor|mast cell neoplasm|tumor of the Mast cells|tumor of Mast cells ICD10:D47.0|DOID:3664|ICD9:238.79|NCIT:C9295|EFO:0009000|SCTID:414653009|UMLS:C0334664 owl:Class MONDO:0013815 biolink:NamedThing FGFR2-related bent bone dysplasia tmpak2llvmy_mondo_relaxed.owl perinatal lethal bent bone dysplasia|bent bone dysplasia (BBD)-FGFR2 type|BBDS|bent bone dysplasia syndrome OMIM:614592|UMLS:C3281247|GARD:0010965|Orphanet:313855 owl:Class MONDO:0010768 biolink:NamedThing gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. tmpak2llvmy_mondo_relaxed.owl gonadoblastoma|gonad blastoma ICD10:D39.1|MESH:D018238|DOID:3301|ICDO:9073/1|ONCOTREE:OGBL|NCIT:C3754|UMLS:C0206661 owl:Class MONDO:0002478 biolink:NamedThing mixed germ cell-sex cord-stromal tumor A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. tmpak2llvmy_mondo_relaxed.owl mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord-stromal tumor|mixed germ cell-Sex cord tumor|mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord neoplasm DOID:2996|UMLS:C1321220|NCIT:C5241 owl:Class MONDO:0008127 biolink:NamedThing ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. tmpak2llvmy_mondo_relaxed.owl Omm syndrome|Pillay syndrome|ophthalmomandibulomelic dysplasia|Ophthalmo-mandibulo-melic dysplasia|OMM syndrome SCTID:715484003|Orphanet:2741|ICD10:Q87.8|OMIM:164900|GARD:0004365|UMLS:C1833872|MESH:C563501 owl:Class CHEBI:25384 biolink:NamedThing monocarboxylic acid An oxoacid containing a single carboxy group. tmpak2llvmy_mondo_relaxed.owl monocarboxylic acids owl:Class UBERON:0004537 biolink:NamedThing blood vasculature A vascular network consisting of blood vessels. tmpak2llvmy_mondo_relaxed.owl set of blood vessels|blood vessels|blood vascular network|blood vessel system|blood system owl:Class UBERON:0000428 biolink:NamedThing prostate epithelium The prostate epithelium. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of prostate gland|epithelium of prostate|epithelium of prostatic gland|epithelial tissue of prostate|epithelium of prostate gland|prostate epithelial tissue|prostatic epithelium|prostatic gland epithelium|prostate gland epithelium|prostate gland epithelial tissue owl:Class MONDO:0018658 biolink:NamedThing 19p13.3 microduplication syndrome 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. tmpak2llvmy_mondo_relaxed.owl dup(19)(p13.13) UMLS:CN237720|ICD10:Q92.3|Orphanet:447980 owl:Class MONDO:0001925 biolink:NamedThing retinal dystrophy in systemic or cerebroretinal lipidoses tmpak2llvmy_mondo_relaxed.owl ICD9:362.71|DOID:14253 owl:Class GO:0002922 biolink:NamedThing positive regulation of humoral immune response Any process that activates or increases the frequency, rate, or extent of a humoral immune response. tmpak2llvmy_mondo_relaxed.owl stimulation of humoral immune response|up-regulation of humoral immune response|upregulation of humoral immune response|activation of humoral immune response|up regulation of humoral immune response owl:Class MONDO:0008488 biolink:NamedThing holoprosencephaly-radial heart renal anomalies syndrome Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. tmpak2llvmy_mondo_relaxed.owl STEINFELD syndrome|Steinfeld syndrome|holoprosencephaly radial heart renal anomalies UMLS:C1866649|MESH:C566655|GARD:0002727|ICD10:Q87.8|OMIM:184705|SCTID:716233007|Orphanet:3186 https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome owl:Class MONDO:0016110 biolink:NamedThing non-dystrophic myopathy A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. tmpak2llvmy_mondo_relaxed.owl non dystrophic myotonia|non-dystrophic myotonia Orphanet:206656|SCTID:424795008|NCIT:C122787|UMLS:C1828221 owl:Class HGNC:1331 biolink:NamedThing C5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003346 biolink:NamedThing central nervous system vasculitis Vasculitis affecting the blood vessels of the brain and/or spinal cord. tmpak2llvmy_mondo_relaxed.owl central nervous system vasculitis|vasculitis of central nervous system MESH:D020293|DOID:525|UMLS:C0751878|NCIT:C84622 owl:Class GO:0008614 biolink:NamedThing pyridoxine metabolic process The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. tmpak2llvmy_mondo_relaxed.owl pyridoxine metabolism owl:Class GO:0042816 biolink:NamedThing vitamin B6 metabolic process The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. tmpak2llvmy_mondo_relaxed.owl vitamin B6 metabolism owl:Class MONDO:0011721 biolink:NamedThing distal myopathy with anterior tibial onset tmpak2llvmy_mondo_relaxed.owl distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT Orphanet:178400|MESH:C564664|ICD10:G71.0|OMIM:606768|DOID:0111187|UMLS:C1847532 owl:Class HGNC:4679 biolink:NamedThing GUCA1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013007 biolink:NamedThing combined immunodeficiency due to ORAI1 deficiency A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. tmpak2llvmy_mondo_relaxed.owl CID due to ORAI1 deficiency|immunodeficiency 9|IMD9|immune dysfunction with T-cell inactivation due to calcium entry defect 1|immunodeficiency type 9 UMLS:C2748568|Orphanet:317428|MESH:C557826|GARD:0010524|ICD10:D81.8|OMIM:612782 owl:Class MONDO:0015695 biolink:NamedThing combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. tmpak2llvmy_mondo_relaxed.owl immune dysfunction due to T-cell inactivation due to calcium entry defect Orphanet:169090|SCTID:717811007|ICD10:D81.8 owl:Class ECTO:0000173 biolink:NamedThing exposure to corticosteroid An exposure to corticosteroid. tmpak2llvmy_mondo_relaxed.owl exposure to corticosteroid owl:Class MONDO:0021475 biolink:NamedThing benign neoplasm of nasal cavity A benign neoplasm that involves the nasal cavity. tmpak2llvmy_mondo_relaxed.owl benign nasal cavity neoplasm|benign tumor of the nasal cavity|benign tumor of nasal cavity|benign nasal cavity tumor|nasal cavity benign neoplasm|benign neoplasm of the nasal cavity ICD9:212.0|SCTID:92241005|NCIT:C4603|UMLS:C0347215 owl:Class UBERON:0001449 biolink:NamedThing phalanx of pes A phalanx that is part of a hindlimb autopod[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx of digit of foot|foot phalanx|toe phalanx|phalanx of hind digit|pedal phalanx|phalanges of hind digit|foot digit phalanx|digitus pedis phalanx|digital bone of pes|phalanx of toe|phalanx of foot digit|phalanx of digitus pedis|bone of toe|phalanx of pes owl:Class UBERON:0003221 biolink:NamedThing phalanx Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. tmpak2llvmy_mondo_relaxed.owl digit long bone|phalanges|phalanx bone|long bone of digit|phalange owl:Class UBERON:0000383 biolink:NamedThing musculature of body The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. tmpak2llvmy_mondo_relaxed.owl set of all muscles|muskelsystem|muscular system|set of muscles of body|musculature system|vertebrate muscular system|muscle system|muscle system of body owl:Class MONDO:0021241 biolink:NamedThing buccal mucosa neoplasm A neoplasm (disease) that involves the buccal mucosa. tmpak2llvmy_mondo_relaxed.owl neoplasm of buccal mucosa|buccal mucosa tumor|tumor of buccal mucosa|buccal mucosa neoplasm (disease)|tumor of the buccal mucosa|neoplasm of the buccal mucosa UMLS:C0345563|SCTID:126802007|NCIT:C4405 owl:Class MONDO:0016884 biolink:NamedThing partial deletion of the short arm of chromosome 2 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial deletion of chromosome 2p|partial monosomy of the short arm of chromosome 2 Orphanet:261866|ICD10:Q93.5 owl:Class UBERON:0012354 biolink:NamedThing acropodium region The segment of the autopod that is distal to the metapodial region and consists of the digits. tmpak2llvmy_mondo_relaxed.owl set of digits|acropodial segment of autopod|acropodial limb segment|acropodial region owl:Class MONDO:0005775 biolink:NamedThing G6PD deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. tmpak2llvmy_mondo_relaxed.owl glucosephosphate dehydrogenase deficiency|inborn error of glucose-6-phosphate dehydrogenase activity|deficiency of G-6PD|inborn glucose-6-phosphate dehydrogenase activity disorder|rare inborn error of glucose-6-phosphate dehydrogenase activity|G6PD deficiency|G-6-PD variant enzyme deficiency Anemia|G6PD|glucose-6-phosphate dehydrogenase deficiency UMLS:C2939465|DOID:2862|SCTID:62403005|MESH:D005955|NCIT:C98933|EFO:0007287 owl:Class MONDO:0019214 biolink:NamedThing inborn carbohydrate metabolic disorder An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of carbohydrate metabolic process|inborn error of carbohydrate metabolic process|disorder of carbohydrate transport and metabolism|inborn errors of carbohydrate metabolism|carbohydrate metabolic disorder|inborn carbohydrate metabolic process disorder|carbohydrate metabolism disorder|disorder of carbohydrate metabolism|inborn carbohydrate metabolism disorder MedDRA:10061023|DOID:2978|NCIT:C97089|EFO:1000061|Orphanet:79161|ICD9:271.8|MESH:D002239 owl:Class NCBITaxon:1897064 biolink:NamedThing Cryptococcus neoformans species complex tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004150 biolink:NamedThing breast giant fibroadenoma A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. tmpak2llvmy_mondo_relaxed.owl giant fibroadenoma|giant fibroadenoma of the breast|giant breast fibroadenoma|giant fibroadenoma of breast|breast giant fibroadenoma SCTID:254846003|NCIT:C4273|UMLS:C0334500|ICDO:9016/0|UMLS:C0346157|DOID:7223 owl:Class GO:0040013 biolink:NamedThing negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. tmpak2llvmy_mondo_relaxed.owl down regulation of locomotion|inhibition of locomotion|down-regulation of locomotion|downregulation of locomotion owl:Class MONDO:0019666 biolink:NamedThing spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. tmpak2llvmy_mondo_relaxed.owl brachyolmia type 4 with mild epiphyseal and metaphyseal changes|SEMD, Pakistani type|BCYM4|spondyloepimetaphyseal dysplasia Pakistani type|spondyloepimetaphyseal dysplasia, Pakistani type|spondylodysplasia and premature pubarche SCTID:719172003|Orphanet:93282|OMIM:612847|ICD10:Q77.7|DOID:0050812 owl:Class MONDO:0020656 biolink:NamedThing human papillomavirus-related penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma. tmpak2llvmy_mondo_relaxed.owl human papilloma virus related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma|human papillomavirus-related penile squamous cell carcinoma NCIT:C27682 owl:Class MONDO:0020055 biolink:NamedThing autosomal uniparental disomy tmpak2llvmy_mondo_relaxed.owl ICD10:Q99.8|UMLS:CN229262|Orphanet:98152 owl:Class NCBITaxon:578835 biolink:NamedThing Rhipicephalus sanguineus group tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:426455 biolink:NamedThing Rhipicephalus tmpak2llvmy_mondo_relaxed.owl Rhipicephalus (Rhipicephalus)|Rhipicephalus GC_ID:1|PMID:14707501 ncbi_taxonomy owl:Class HGNC:6325 biolink:NamedThing KIF5C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010230 biolink:NamedThing intellectual disability, X-linked 23 tmpak2llvmy_mondo_relaxed.owl MRX23|intellectual disability, X-linked 23|mental retardation, X-linked 23 UMLS:C0796229|MESH:C563144|OMIM:300046 owl:Class NCBITaxon:1489841 biolink:NamedThing Zeiogadaria tmpak2llvmy_mondo_relaxed.owl Zeiogadiformes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489838 biolink:NamedThing Paracanthopterygii tmpak2llvmy_mondo_relaxed.owl Paracanthomorphacea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012563 biolink:NamedThing holoprosencephaly 9 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. tmpak2llvmy_mondo_relaxed.owl GLI2 holoprosencephaly|HPE9|holoprosencephaly with microphthalmia and first branchial arch anomalies|holoprosencephaly caused by mutation in GLI2|holoprosencephaly 9|holoprosencephaly type 9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|pituitary anomalies with holoprosencephaly-like features DOID:0110873|OMIM:610829|UMLS:C1835819 owl:Class MONDO:0019756 biolink:NamedThing lobar holoprosencephaly Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.2|Orphanet:93924|SCTID:253136007 owl:Class HP:0002060 biolink:NamedThing Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. tmpak2llvmy_mondo_relaxed.owl Abnormality of the telencephalon|Abnormality of the cerebrum|Cerebral lesion UMLS:C4021762 human_phenotype owl:Class HP:0100547 biolink:NamedThing Abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. tmpak2llvmy_mondo_relaxed.owl Abnormality of the forebrain|Abnormal shape of forebrain UMLS:C4020967 doelkens 2010-12-21T02:12:53Z human_phenotype owl:Class MONDO:0016244 biolink:NamedThing atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. tmpak2llvmy_mondo_relaxed.owl hemolytic-uremic syndrome without diarrhea|aHUS|D-HUS|atypical HUS|atypical hemolytic uremic syndrome|D-minus hemolytic uremic syndrome (D-HUS)|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical Orphanet:2134|ICD10:D58.8|DOID:0080301|UMLS:C2931788|MESH:D065766|GARD:0006240|GARD:0008702|NCIT:C123223 owl:Class PATO:0002006 biolink:NamedThing 2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. tmpak2llvmy_mondo_relaxed.owl 2-D projection|cross-sectional owl:Class HGNC:7981 biolink:NamedThing NR4A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001420 biolink:NamedThing trigeminal nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. tmpak2llvmy_mondo_relaxed.owl neoplasm of the fifth cranial nerve|trigeminal nerve tumors|tumors, cranial nerve V|trigeminal nerve neoplasm|neoplasm of trigeminal nerve|trigeminal nerve tumor|fifth cranial nerve neoplasm|neoplasms, cranial nerve V|neoplasm of the trigeminal nerve|fifth cranial nerve tumor|tumor of fifth cranial nerve|tumor of the trigeminal nerve|cranial nerve V neoplasms|tumor of the fifth cranial nerve|cranial nerve V tumors|trigeminal nerve neoplasm (disease)|trigeminal nerve neoplasms|tumor of trigeminal nerve|neoplasm of fifth cranial nerve SCTID:126971002|DOID:1201|UMLS:C1263897|ICD9:239.7|NCIT:C5122 owl:Class MONDO:0017893 biolink:NamedThing inherited acute myeloid leukemia An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl Pure familial AML|hereditary acute myeloid leukemia|Pure familial acute myeloid leukemia|inherited AML|familial AML Orphanet:319465|ICD10:C92.0|UMLS:CN203946|SCTID:764940002 owl:Class MONDO:0044329 biolink:NamedThing osteogenesis imperfecta, type 18 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}). tmpak2llvmy_mondo_relaxed.owl OI18|osteogenesis imperfecta, type XVIII UMLS:CN244563|OMIM:617952 owl:Class MONDO:0001126 biolink:NamedThing gastric ulcer An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. tmpak2llvmy_mondo_relaxed.owl acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with perforation, with obstruction|acute gastric ulcer with perforation|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer without hemorrhage and without perforation|gastric ulcer (disease)|acute gastric ulcer with hemorrhage and obstruction|acute gastric ulcer with perforation and obstruction|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|chronic gastric ulcer without hemorrhage and without perforation|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|peptic ulcer disease of stomach|gastric ulcer|acute gastric ulcer with hemorrhage, with obstruction|acute gastric ulcer with hemorrhage and perforation|bleeding acute gastric ulcer|stomach peptic ulcer disease|acute gastric ulcer without hemorrhage, without perforation and without obstruction|acute gastric ulcer with haemorrhage and perforation|acute gastric ulcer with hemorrhage and with perforation but without obstruction gastric ulcer (disease) SCTID:397825006|UMLS:C0038358|MESH:D013276|DOID:10808|ICD10:K25|ICD9:531|HP:0002592|NCIT:C3388 owl:Class MONDO:0020377 biolink:NamedThing early-onset partial cataract tmpak2llvmy_mondo_relaxed.owl Orphanet:98992|UMLS:CN207248|ICD10:Q12.0 owl:Class UBERON:0015144 biolink:NamedThing autopod hair A strand of hair that is part of a autopod region. tmpak2llvmy_mondo_relaxed.owl hand/foot hair|hair of hand/foot|paw hair owl:Class HP:0010651 biolink:NamedThing Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. tmpak2llvmy_mondo_relaxed.owl Abnormality of the meninges UMLS:C4023758 peter 2010-02-25T10:19:40Z human_phenotype owl:Class UBERON:0001820 biolink:NamedThing sweat gland any of the coil glands of the skin that secrete sweat tmpak2llvmy_mondo_relaxed.owl sudoriparous gland|glandula sudorifera|sudoriferous gland owl:Class MONDO:0018124 biolink:NamedThing Oncogenic osteomalacia Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. tmpak2llvmy_mondo_relaxed.owl OO|Oncogenic hypophosphatemic osteomalacia|TIO|OOM|tumor-induced osteomalacia SCTID:392559009|ICD10:M83.8|MESH:C537751|Orphanet:352540|UMLS:C1274103|GARD:0009652|NCIT:C67235 https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia owl:Class MONDO:0100438 biolink:NamedThing AIPL1 retinopathy A retinopathy caused by biallelic variants in the AIPL1 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy|retinitis pigmentosa, juvenile|retinitis pigmentosa, juvenile, AIPL1-related|Leber congenital amaurosis 4|Leber congenital amaurosis caused by mutation in AIPL1|Leber congenital amaurosis type 4|amaurosis congenita of Leber, type 4|AIPL1 Leber congenital amaurosis|cone-rod dystrophy, AIPL1-related|LCA4 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0007979 biolink:NamedThing metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. tmpak2llvmy_mondo_relaxed.owl metachondromatosis|METACHONDROMATOSIS|METCDS MESH:C562938|ICD10:Q78.4|GARD:0003560|ICD9:756.59|OMIM:156250|SCTID:205481009|DOID:0111512|Orphanet:2499|UMLS:C0410530 https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis owl:Class GO:0030449 biolink:NamedThing regulation of complement activation Any process that modulates the frequency, rate or extent of complement activation. tmpak2llvmy_mondo_relaxed.owl regulation of complement cascade owl:Class GO:0002920 biolink:NamedThing regulation of humoral immune response Any process that modulates the frequency, rate, or extent of a humoral immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000646 biolink:NamedThing basal cell Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. tmpak2llvmy_mondo_relaxed.owl FMA:62516|BTO:0000939 cell owl:Class CL:0000036 biolink:NamedThing epithelial fate stem cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class HGNC:10313 biolink:NamedThing RPL21 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002995 biolink:NamedThing small intestine neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestine neuroendocrine tumor|small intestinal well differentiated endocrine tumor|small intestinal NET|small intestinal neuroendocrine tumor|small intestinal well differentiated endocrine tumor/carcinoma|carcinoid tumor of small intestine UMLS:C3272528|EFO:1001928|NCIT:C96061 owl:Class CL:0002260 biolink:NamedThing epithelial cell of parathyroid gland An epithelial cell of the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl FMA:70547 tmeehan 2010-09-08T02:29:38Z CL:1000429 cell owl:Class GO:0004866 biolink:NamedThing endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpak2llvmy_mondo_relaxed.owl endoproteinase inhibitor|proteinase inhibitor|alpha-2 macroglobulin owl:Class GO:0030414 biolink:NamedThing peptidase inhibitor activity Binds to and stops, prevents or reduces the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpak2llvmy_mondo_relaxed.owl protease inhibitor activity owl:Class MONDO:0004561 biolink:NamedThing retinal melanoma A melanoma affecting the retinal portion of the eye. --2003 tmpak2llvmy_mondo_relaxed.owl retina melanoma (disease)|melanoma (disease) of retina|melanoma of retina|malignant melanoma of the retina|melanoma of the retina|retina melanoma|malignant retinal melanoma|retinal melanoma|malignant melanoma of retina NCIT:C8601|SCTID:423673009|UMLS:C0853394|DOID:8427 owl:Class MONDO:0003072 biolink:NamedThing retinal cancer A malignant neoplasm involving the retina. tmpak2llvmy_mondo_relaxed.owl retinal tumor|malignant retinal neoplasm|malignant retina tumor|malignant neoplasm of retina|malignant retina neoplasm|malignant neoplasm of the retina|retina cancer|malignant tumor of the retina|malignant tumor of retina|cancer of retina|malignant retinal tumor SCTID:363465007|NCIT:C3216|ICD10:C69.2|EFO:0005716|DOID:4645|MESH:D019572|ICD9:190.5 owl:Class UBERON:0001252 biolink:NamedThing adventitia of ureter An adventitia that is part of a ureter. tmpak2llvmy_mondo_relaxed.owl tunica adventitia (ureter)|tunica adventitia ureteris|ureteral adventitia|external adventitia of ureter|ureter adventitia owl:Class UBERON:0014716 biolink:NamedThing interlobular duct A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7489 biolink:NamedThing MT-TK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007966 biolink:NamedThing susceptibility to uveal melanoma tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0001810 biolink:NamedThing hypoglossal nerve disease A disease involving the hypoglossal nerve. tmpak2llvmy_mondo_relaxed.owl disorder of XII nerve|disease of hypoglossal nerve|hypoglossal nerve disease or disorder|twelfth nerve disorder|hypoglossal nerve disease|disorder of the XII nerve|disorder of hypoglossal [12th] nerve|disease or disorder of hypoglossal nerve|hypoglossal nerve disorder|disorder of 12th nerve|disorder of hypoglossal nerve NCIT:C26954|ICD9:352.5|SCTID:24777009|UMLS:C0152181|ICD10:G52.3|DOID:13814|MESH:D020437 owl:Class MONDO:0003620 biolink:NamedThing peripheral nervous system disease A disease involving the peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl peripheral nervous system disease|disease of peripheral nervous system|peripheral nervous system disorders|peripheral nervous system disorder|PNS (peripheral nervous system) diseases|disorder of peripheral nervous system|peripheral Neuropathies|PNS disease|nerve diseases, peripheral|neuropathy, peripheral|disorder of the peripheral nervous system|disease or disorder of peripheral nervous system|peripheral nervous system disease or disorder|peripheral neuropathy|peripheral nerve disease|PNS diseases|nerve disease, peripheral|peripheral nerve diseases DOID:574|ICD9:350-359.99|SCTID:42658009|NCIT:C27580|MESH:D010523|ICD10:G64|ICD9:356.9 owl:Class HGNC:3942 biolink:NamedThing MTOR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014705 biolink:NamedThing craniosynostosis 6 Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene. tmpak2llvmy_mondo_relaxed.owl craniosynostosis type 6|CRS6|craniosynostosis caused by mutation in ZIC1|ZIC1 craniosynostosis|craniosynostosis 6 UMLS:C4225269|OMIM:616602 owl:Class MONDO:0018114 biolink:NamedThing isolated brachycephaly Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. tmpak2llvmy_mondo_relaxed.owl non-syndromic bicoronal synostosis Orphanet:35099|ICD10:Q75.0 owl:Class UBERON:0008856 biolink:NamedThing stomach muscularis externa The smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines tmpak2llvmy_mondo_relaxed.owl tunica muscularis (gaster)|gastric muscularis|muscularis externa of stomach|muscle layer of stomach|tunica muscularis gastris owl:Class CL:0001065 biolink:NamedThing innate lymphoid cell A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. tmpak2llvmy_mondo_relaxed.owl 2017-01-30 20:20:48+00:00 cell owl:Class MONDO:0005304 biolink:NamedThing biliary tract neoplasm A neoplasm that involves the biliary tract. tmpak2llvmy_mondo_relaxed.owl neoplasm of extrahepatic bile ducts|neoplasm of biliary tree|biliary tree neoplasm|biliary tree neoplasm (disease)|tumor of biliary tree|biliary tree tumor|biliary tract neoplasm (disease)|biliary tract neoplasm biliary tract neoplasm (disease) EFO:0003891|HP:0100574|DOID:0050625|SCTID:126853008|ONCOTREE:BILIARYTRACT https://github.com/monarch-initiative/mondo/issues/3673 owl:Class NCBITaxon:30005 biolink:NamedThing Anoplura tmpak2llvmy_mondo_relaxed.owl sucking lice GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:85819 biolink:NamedThing Phthiraptera tmpak2llvmy_mondo_relaxed.owl lice GC_ID:1 ncbi_taxonomy owl:Class HGNC:7881 biolink:NamedThing NOTCH1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013509 biolink:NamedThing lumbar vertebra cartilage element A lumbar vertebra endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl lumbar vertebral cartilage condensation group owl:Class MONDO:0009513 biolink:NamedThing laryngo-onycho-cutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. tmpak2llvmy_mondo_relaxed.owl laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|laryngo-onycho-cutaneous syndrome|LOCS|LOC syndrome|logic syndrome|Shabbir syndrome|LARYNGOONYCHOCUTANEOUS syndrome UMLS:C1328355|ICD10:Q81.8|GARD:0000368|Orphanet:2407|MESH:C537032|OMIM:245660|SCTID:722675000 owl:Class GO:0060049 biolink:NamedThing regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid glycosylation owl:Class MONDO:0009039 biolink:NamedThing Baller-Gerold syndrome Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). tmpak2llvmy_mondo_relaxed.owl craniosynostosis-radial aplasia syndrome|BGS|BALLER-Gerold syndrome|Baller-Gerold syndrome|craniosynostosis with radial defects OMIM:218600|ICD10:Q75.0|MESH:C536788|UMLS:C0265308|DOID:0050654|SCTID:77608001|Orphanet:1225|GARD:0001602 https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome owl:Class MONDO:0020409 biolink:NamedThing univentricular heart with single atrio-ventricular valve tmpak2llvmy_mondo_relaxed.owl Orphanet:99069|ICD10:Q20.4 owl:Class MONDO:0015451 biolink:NamedThing univentricular heart Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. tmpak2llvmy_mondo_relaxed.owl Double inlet left ventricle ICD10:Q20.4|MedDRA:10045545|SCTID:253283000|Orphanet:1464|ICD9:746.89 owl:Class UBERON:8410056 biolink:NamedThing capillary of anorectum A capillary that is part of the anorectum. tmpak2llvmy_mondo_relaxed.owl blood vessel capillary of anorectum owl:Class GO:0002861 biolink:NamedThing regulation of inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003554 biolink:NamedThing hindbrain pia mater A pia mater that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pia mater of neuraxis of hindbrain|rhombencephalon pia mater|pia mater of hindbrain|hindbrain pia mater of neuraxis owl:Class MONDO:0019911 biolink:NamedThing maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(4)mat|maternal uniparental disomy of chromosome type 4 SCTID:766238001|ICD10:Q99.8|Orphanet:96180 owl:Class CL:0001059 biolink:NamedThing common myeloid progenitor, CD34-positive A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. tmpak2llvmy_mondo_relaxed.owl CFU-S|myeloid stem cell|CFU-GEMM|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CMP|common myeloid precursor, CD34-positive|multipotential myeloid stem cell|pluripotent stem cell (bone marrow) CMP are reportedly CD16-positive, CD32-positive, CD38-positive, CD45RA-negative, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class MONDO:0018576 biolink:NamedThing non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl ICD10:G93.4|Orphanet:436271 owl:Class MONDO:0013962 biolink:NamedThing hereditary spastic paraplegia 53 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia type 53|hereditary spastic paraplegia type 53|VPS37A autosomal recessive complex spastic paraplegia|SPG53|hereditary spastic paraplegia 53|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|spastic paraplegia 53, autosomal recessive|autosomal recessive spastic paraplegia 53 Orphanet:319199|UMLS:C3539494|SCTID:723823004|DOID:0110805|OMIM:614898|ICD10:G11.4|UMLS:C4510082 owl:Class GO:0045818 biolink:NamedThing negative regulation of glycogen catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpak2llvmy_mondo_relaxed.owl negative regulation of glycogenolysis|downregulation of glycogen catabolic process|negative regulation of glycogen degradation|down-regulation of glycogen catabolic process|inhibition of glycogen catabolic process|negative regulation of glycogen catabolism|negative regulation of glycogen breakdown|down regulation of glycogen catabolic process owl:Class MONDO:0003186 biolink:NamedThing esophageal adenoid cystic carcinoma An infrequent esophageal carcinoma arising from esophageal glands. (WHO) tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of the esophagus|esophagus adenoid cystic carcinoma|esophageal adenoid cystic cancer|adenoid cystic esophagus carcinoma|esophageal adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus|adenoid cystic carcinoma of esophagus NCIT:C5342|DOID:4878|UMLS:C1333441 owl:Class MONDO:0004209 biolink:NamedThing cerebral primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl primitive neuroectodermal tumor of cerebrum|PNET of cerebrum|primitive neuroectodermal tumor of cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebral hemispheres|cerebral primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral primitive neuroectodermal tumor|PNET of the cerebral hemispheres|primitive neuroectodermal tumor of the cerebrum|cerebral PNET|primitive neuroectodermal neoplasm of the cerebrum|PNET of the cerebrum|cerebral hemisphere primitive neuroectodermal neoplasm|cerebral hemisphere PNET|primitive neuroectodermal neoplasm of cerebrum|PNET of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor NCIT:C4970|DOID:7398|UMLS:C0751675 owl:Class MONDO:0005874 biolink:NamedThing neuroschistosomiasis Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) tmpak2llvmy_mondo_relaxed.owl MESH:D020818|EFO:0007394|DOID:13722|UMLS:C0752191 owl:Class MONDO:0015254 biolink:NamedThing schistosomiasis An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. tmpak2llvmy_mondo_relaxed.owl bilharziasis|snail fever|schistosomiasis|Bilharzia ICD10:B65.3|EFO:1001475|ICD10:B65.9|Orphanet:1247|ICD9:120.9|DOID:1395|UMLS:C0036323|SCTID:10087007|ICD10:B65.2|ICD9:120.8|ICD10:B65.8|NCIT:C35000|GARD:0009687|ICD10:B65.1|ICD10:B65.0|MedDRA:10039603|MESH:D012552 owl:Class MONDO:0012836 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 12 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 12|SLEB12 OMIM:612254 owl:Class MONDO:0010866 biolink:NamedThing infantile osteopetrosis with neuroaxonal dysplasia This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. tmpak2llvmy_mondo_relaxed.owl osteopetrosis and infantile neuroaxonal dystrophy SCTID:724226009|UMLS:C1838258|ICD10:Q78.2|MESH:C536055|OMIM:600329|Orphanet:85179|GARD:0010082 owl:Class GO:0003824 biolink:NamedThing catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. tmpak2llvmy_mondo_relaxed.owl enzyme activity owl:Class HP:0005508 biolink:NamedThing Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. tmpak2llvmy_mondo_relaxed.owl Waldenstrom macroglobulinemia UMLS:C0024419|SNOMEDCT_US:35562000|SNOMEDCT_US:190817009|SNOMEDCT_US:190818004|MSH:D008258 This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. human_phenotype owl:Class HP:0003496 biolink:NamedThing Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. tmpak2llvmy_mondo_relaxed.owl Increased IgM levels|Increased levels of IgM UMLS:C1839972 HP:0002962 human_phenotype owl:Class MONDO:0019354 biolink:NamedThing Stickler syndrome Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). tmpak2llvmy_mondo_relaxed.owl Stickler syndrome|hereditary progressive arthroophthalmopathy NCIT:C74984|ICD10:Q87.0|MedDRA:10063402|OMIMPS:108300|UMLS:C0265253|GARD:0010782|ICD9:759.89|SCTID:78675000|DOID:0080046|Orphanet:828 Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome owl:Class MONDO:0004254 biolink:NamedThing focal intraductal papillomatosis tmpak2llvmy_mondo_relaxed.owl localized intraductal papillomatosis|focal intraductal papillomatosis DOID:7512|NCIT:C7365|UMLS:C1333626 owl:Class MONDO:0007056 biolink:NamedThing acroosteolysis A condition that is characterized by degeneration of the distal phalanges. tmpak2llvmy_mondo_relaxed.owl acroosteolysis OMIM:102400|MESH:D030981|NCIT:C35545|SCTID:27201004 owl:Class UBERON:0006694 biolink:NamedThing cerebellum vasculature A vasculature that is part of a cerebellum. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005309 biolink:NamedThing pronephric nephron A pronephric nephron is the functional unit of the pronephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001285 biolink:NamedThing nephron The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP] tmpak2llvmy_mondo_relaxed.owl tubulus renalis|nephroneum|mature nephron owl:Class HGNC:9154 biolink:NamedThing PNKP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018456 biolink:NamedThing polyarticular juvenile idiopathic arthritis tmpak2llvmy_mondo_relaxed.owl juvenile polyarticular arthritis|polyarticular JIA|juvenile polyarthritis SCTID:16044751000119106|Orphanet:404580|EFO:1002020 owl:Class MONDO:0007753 biolink:NamedThing Frey syndrome An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) tmpak2llvmy_mondo_relaxed.owl Frey syndrome|Frey's syndrome|hyperhidrosis, gustatory|HYPRG|Baillarger syndrome|hyperhidrosis gustatory|auriculotemporal nerve syndrome|gustatory sweating|gustatory hyperhidrosis MESH:D013547|SCTID:238758008|OMIM:144100|DOID:11599|EFO:1000940|GARD:0006467 owl:Class GO:2000292 biolink:NamedThing regulation of defecation Any process that modulates the frequency, rate or extent of defecation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000928 biolink:NamedThing eyelid melanoma A melanoma that arises from the upper or lower eyelid. tmpak2llvmy_mondo_relaxed.owl melanoma of the eyelid|malignant melanoma of the eyelid|melanoma (disease) of eyelid|malignant melanoma of eyelid|malignant eyelid melanoma|eyelid melanoma|melanoma of eyelid|eyelid melanoma (disease) SCTID:231834005|UMLS:C0339116|NCIT:C4358|ICD9:172.1|DOID:10040 owl:Class PATO:0002181 biolink:NamedThing displaced A positional quality inhering in a bearer by virtue the bearer's being changed in position. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001644 biolink:NamedThing trochlear nerve A cranial nerve that runs to the eye muscles. tmpak2llvmy_mondo_relaxed.owl fourth cranial nerve|nerve IV|trochlear IV nerve|trochlear nerve [IV]|pathetic nerve|superior oblique nerve|trochlear nerve or its root|trochlear nerve/root|CN-IV|nervus trochlearis|nervus trochlearis [IV]|4n|cranial nerve IV|trochlear|trochlear nerve tree owl:Class UBERON:0001785 biolink:NamedThing cranial nerve Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. tmpak2llvmy_mondo_relaxed.owl cranial nerves|nervus cranialis|cranial neural tree organ owl:Class UBERON:0002749 biolink:NamedThing regional part of cerebellar cortex A regional part of brain that is part of a cerebellar cortex [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl segment of cerebellar cortex|cerebellar cortical segment owl:Class MONDO:0019370 biolink:NamedThing vulvovaginal gingival syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:C3873472|UMLS:CN206058|SCTID:707250009|Orphanet:83453|ICD10:L43.8 owl:Class UBERON:0001482 biolink:NamedThing muscle of shoulder Any muscle organ that is part of a shoulder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl shoulder muscle|shoulder muscle organ|muscle organ of shoulder owl:Class GO:0034249 biolink:NamedThing negative regulation of cellular amide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpak2llvmy_mondo_relaxed.owl negative regulation of amide metabolism owl:Class MONDO:0012840 biolink:NamedThing inflammatory bowel disease 17 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene. tmpak2llvmy_mondo_relaxed.owl IL23R inflammatory bowel disease|IBD17|inflammatory bowel disease 17|inflammatory bowel disease type 17|inflammatory bowel disease caused by mutation in IL23R OMIM:612261|DOID:0110883|UMLS:C2677091|MESH:C567378 owl:Class MONDO:0015074 biolink:NamedThing thyroid tumor A benign or malignant neoplasm affecting the thyroid gland. tmpak2llvmy_mondo_relaxed.owl tumor of thyroid|thyroid neoplasm|neoplasm of the thyroid gland|thyroid gland tumor|thyroid gland neoplasm|tumor of the thyroid gland|thyroid tumor|thyroid neoplasms|tumor of thyroid gland|tumor of the thyroid|thyroid gland neoplasm (disease)|neoplasm of thyroid|THYROID|neoplasm of the thyroid|neoplasm of thyroid gland NCIT:C3414|EFO:0003841|SCTID:127018007|Orphanet:100087|ONCOTREE:THYROID|ICD9:239.7 Editor note: TODO MONDO:0021217 owl:Class HGNC:30839 biolink:NamedThing KRT25 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001879 biolink:NamedThing anus cancer A malignant neoplasm involving the anus tmpak2llvmy_mondo_relaxed.owl cancer of anus|malignant neoplasm of anus|malignant anus neoplasm|malignant neoplasm of the anus|malignant tumor of anus|malignant anal neoplasm|malignant tumor of the anus|malignant anal tumor|anus cancer ICD10:C21.1|ICD10:C21.0|ICD9:154.3|ICD9:154.2|NCIT:C7379|GARD:0009300|DOID:14110 owl:Class UBERON:0001844 biolink:NamedThing cochlea the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl lagena|cochlear organ|cochleae|cochlear duct|cochlear part of bony labyrinth|lagenas owl:Class MONDO:0018585 biolink:NamedThing pediatric arterial ischemic stroke tmpak2llvmy_mondo_relaxed.owl pediatric AIS|childhood arterial ischemic stroke|childhood AIS ICD10:I63.5|Orphanet:439175 owl:Class UBERON:0005022 biolink:NamedThing mucosa of nasopharynx A mucosa that is part of a nasopharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of rhinopharynx|organ mucosa of nasal part of pharynx|mucosa of organ of nasopharynx|nasopharynx mucosa|mucous membrane of nasopharynx|rhinopharynx mucous membrane|mucous membrane of rhinopharynx|rhinopharynx organ mucosa|nasopharynx mucosa of organ|mucosa of organ of nasal part of pharynx|mucosa of organ of rhinopharynx|rhinopharynx mucosa|nasopharynx mucous membrane|organ mucosa of nasopharynx|mucosa of nasal part of pharynx|rhinopharynx mucosa of organ|mucosa of rhinopharynx|mucous membrane of nasal part of pharynx|nasal part of pharynx mucosa of organ|nasal part of pharynx mucous membrane|nasal part of pharynx mucosa|nasal part of pharynx organ mucosa|nasopharynx organ mucosa owl:Class MONDO:0011145 biolink:NamedThing colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl coloboma-obesity-hypogenitalism-mental retardation syndrome|coloboma-obesity-hypogenitalism-intellectual disability syndrome ICD10:Q87.8|Orphanet:363741|OMIM:601794|UMLS:C1866256|MESH:C566623 owl:Class UBERON:0004996 biolink:NamedThing mucosa of cardia of stomach A mucosa that is part of a cardia of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of cardial part of stomach|cardia of stomach organ mucosa|cardia of stomach mucous membrane|cardia of stomach mucosa of organ|mucous membrane of cardia of stomach|mucous membrane of stomach cardiac region|pars cardiaca (gaster) mucosa|cardial part of stomach mucosa|mucosa of cardial part of stomach|stomach cardiac region mucosa|mucosa of pars cardiaca (gaster)|organ mucosa of pars cardiaca (gaster)|mucosa of organ of cardial part of stomach|gastric cardia organ mucosa|mucosa of organ of gastric cardia|gastric cardia mucosa of organ|cardia of stomach mucosa|stomach cardiac region mucous membrane|mucous membrane of gastric cardia|cardial part of stomach mucous membrane|mucosa of organ of pars cardiaca (gaster)|mucosa of stomach cardiac region|cardial part of stomach organ mucosa|gastric cardia mucosa|organ mucosa of stomach cardiac region|pars cardiaca (gaster) mucous membrane|stomach cardiac region mucosa of organ|pars cardiaca (gaster) organ mucosa|gastric cardia mucous membrane|mucosa of organ of stomach cardiac region|organ mucosa of gastric cardia|stomach cardiac region organ mucosa|mucous membrane of pars cardiaca (gaster)|mucosa of gastric cardia|mucosa of organ of cardia of stomach|pars cardiaca (gaster) mucosa of organ|organ mucosa of cardial part of stomach|organ mucosa of cardia of stomach|cardial part of stomach mucosa of organ owl:Class GO:0120188 biolink:NamedThing regulation of bile acid secretion Any process that modulates the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:7387 biolink:NamedThing Oestridae tmpak2llvmy_mondo_relaxed.owl botflies|warble flies|bot flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43755 biolink:NamedThing Oestroidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010334 biolink:NamedThing severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). tmpak2llvmy_mondo_relaxed.owl DDCH|contiguous ABCD1/Dxs1375E deletion syndrome|deafness, dystonia, and cerebral hypomyelination MESH:C564508|ICD10:Q87.8|Orphanet:369939|OMIM:300475|UMLS:CN204816 owl:Class MONDO:0013665 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl EJM9|epilepsy, juvenile myoclonic, susceptibility to, 9 OMIM:614280|DOID:0111328 owl:Class MONDO:0006088 biolink:NamedThing appendix adenoma A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. tmpak2llvmy_mondo_relaxed.owl vermiform appendix adenoma|appendix adenoma UMLS:C1706829|NCIT:C43550|EFO:1000089 owl:Class ECTO:9001755 biolink:NamedThing exposure to antimicrobial drug An exposure to antimicrobial drug. tmpak2llvmy_mondo_relaxed.owl exposure to antimicrobial drug owl:Class ECTO:0000544 biolink:NamedThing exposure to antimicrobial agent An exposure to antimicrobial agent. tmpak2llvmy_mondo_relaxed.owl exposure to antimicrobial agent owl:Class MONDO:0019078 biolink:NamedThing Ritscher-Schinzel syndrome Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. tmpak2llvmy_mondo_relaxed.owl Ritscher Schinzel syndrome|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|cranio-cerebello-cardiac dysplasia|Ritscher-Schinzel syndrome|Craniocerebellocardiac dysplasia|CCC dysplasia|craniocerebellocardiac dysplasia|Dandy-Walker like malformation with atrioventricular septal defect|Dandy-Walker-like malformation with ASD|Dandy-Walker-like malformation with atrioventricular septal defect|3C syndrome Orphanet:7|SCTID:718556007|UMLS:C0796137|ICD10:Q87.8|OMIMPS:220210|GARD:0005666|MESH:C535313|DOID:0060565 https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect owl:Class MONDO:0001945 biolink:NamedThing postencephalitic Parkinson disease A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. tmpak2llvmy_mondo_relaxed.owl postencephalitic Parkinsonism|postencephalitic parkinsonism SCTID:19972008|NCIT:C34898|UMLS:C0030568|ICD10:G21.3|DOID:14332|Orphanet:97349|EFO:1001402|MESH:D010301 owl:Class MONDO:0011405 biolink:NamedThing poikiloderma with neutropenia A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. tmpak2llvmy_mondo_relaxed.owl poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia, Clericuzio type|poikiloderma with neutropenia|Clericuzio type poikiloderma with neutropenia|PN|poikiloderma with neutropenia Clericuzio type ICD10:D82.8|Orphanet:221046|DOID:0060551|GARD:0004085|OMIM:604173 owl:Class GO:0006694 biolink:NamedThing steroid biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. tmpak2llvmy_mondo_relaxed.owl steroidogenesis|steroid anabolism|steroid biosynthesis|steroid synthesis|steroid formation owl:Class MONDO:0011367 biolink:NamedThing Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. tmpak2llvmy_mondo_relaxed.owl acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia OMIM:603740|MESH:C538181|UMLS:C1863556|GARD:0010076 https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia owl:Class MONDO:0010653 biolink:NamedThing Renpenning syndrome Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. tmpak2llvmy_mondo_relaxed.owl X-linked mental retardation with spastic diplegia|intellectual disability, X-linked Renpenning type|intellectual disability, X-linked, Renpenning type|X-linked intellectual disability with spastic diplegia|intellectual disability, X-linked, syndromic 3|X-linked mental retardation syndromic 3|mental retardation, X-linked, syndromic 8|RENS1|mental retardation, X-linked 55|MRXS3|mental retardation, X-linked, Renpenning type|syndromic X-linked mental retardation 8|intellectual disability, X-linked 55|syndromic X-linked intellectual disability 8|Renpenning syndrome type 1|mental retardation, X-linked, syndromic 3|X-linked intellectual disability, Renpenning type|Golabi-Ito-Hall syndrome|Sutherland-Haan X-linked mental retardation syndrome|Sutherland-Haan syndrome|intellectual disability, X-linked, syndromic 8|Renpenning syndrome|MRXS8|X-linked intellectual disability due to PQBP1 mutations|Renpenning syndrome 1|X-linked intellectual disability syndromic 3|X-linked intellectual disability Renpenning type|mental retardation, X-linked, with spastic diplegia|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked Renpenning type|Sutherland-Haan X-linked intellectual disability syndrome|X-linked mental retardation Renpenning type ICD10:Q87.5|MESH:C537761|SCTID:699669001|UMLS:C0796135|ICD9:759.89|OMIM:309500|Orphanet:3242|DOID:0060179|GARD:0009509 owl:Class MONDO:0015809 biolink:NamedThing localized pagetoid reticulosis A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported. tmpak2llvmy_mondo_relaxed.owl pagetoid reticulosis, Woringer-Kolopp type|pagetoid reticulosis|localised reticulosis|localized reticulosis Orphanet:178517|ICD10:C84.0|ICD9:202.70|SCTID:404120006|MESH:D056267|UMLS:C1276140|NCIT:C35794 owl:Class MONDO:0045071 biolink:NamedThing mycosis fungoides variant tmpak2llvmy_mondo_relaxed.owl mycosis fungoides variant NCIT:C39644|UMLS:C1513782 owl:Class GO:0050954 biolink:NamedThing sensory perception of mechanical stimulus The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl mechanosensory perception|perception of mechanical stimulus|chemi-mechanical coupling owl:Class GO:0007600 biolink:NamedThing sensory perception The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009570 biolink:NamedThing spinal cord sulcus limitans A sulcus limitans of neural tube that is part of a future spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord lateral wall sulcus limitans owl:Class UBERON:0005478 biolink:NamedThing sulcus limitans of neural tube A longitudinal groove in the neural tube wall that divides the neural tube into dorsal (alar) and ventral (basal) halves (dorsal receives input from sensory neurons, ventral effects motor functions); stretches from the mesencephalon caudad[TMD]. tmpak2llvmy_mondo_relaxed.owl sulcus limitans|neural tube lateral wall sulcus limitans owl:Class UBERON:0002473 biolink:NamedThing intercerebral commissure A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum. tmpak2llvmy_mondo_relaxed.owl interhemispheric commissure|inter-hemispheric commissure|commissure of cerebrum owl:Class HGNC:28249 biolink:NamedThing PHYKPL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100040 biolink:NamedThing FOXG1 disorder A monogenic disease that has material basis in mutation in the FOXG1 gene. tmpak2llvmy_mondo_relaxed.owl FOXG1 inherited genetic disease|inherited genetic disease caused by mutation in FOXG1|FOXG1 disorder 2018-06-29 19:29:48+00:00 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. owl:Class CHEBI:16646 biolink:NamedThing carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. tmpak2llvmy_mondo_relaxed.owl glucides|carbohidratos|carbohydrates|saccharides|Kohlenhydrat|carbohydrate|glucidos|saccharide|carbohidrato|saccharidum|Kohlenhydrate|glucide|hydrates de carbone|glucido owl:Class MONDO:0009499 biolink:NamedThing Krabbe disease Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. tmpak2llvmy_mondo_relaxed.owl GALC deficiency|globoid cell leukodystrophy|Krabbe's disease|Krabbe disease|galactosylceramide Beta-galactosidase deficiency|diffuse globoid body sclerosis|GLD|globoid cell leukoencephalopathy|Krabbe leukodystrophy|beta galactocerebrosidase deficiency|galactocerebrosidase deficiency|Krabbe's leukodystrophy|galactosylceramide lipidosis|galactosylceramidase deficiency GARD:0006844|OMIM:245200|MESH:D007965|ICD10:E75.23|NCIT:C61254|MedDRA:10023492|ICD10:E75.2|Orphanet:487|SCTID:189979005|DOID:10587|UMLS:C0023521 Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] owl:Class MONDO:0012789 biolink:NamedThing dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. tmpak2llvmy_mondo_relaxed.owl PRKRA dystonic disorder|dystonia 16|Young-onset dystonia-(parkinsonism)|dystonia type 16|dystonic disorder caused by mutation in PRKRA|DYT16|early-onset dystonia parkinsonism|DYT-PRKRA Orphanet:210571|OMIM:612067|UMLS:C2677567|GARD:0010539|DOID:0090048|SCTID:722435003|MESH:C567430|ICD10:G24.1 https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 owl:Class UBERON:0011091 biolink:NamedThing skeleton of left pelvic girdle A skeleton of pelvic girdle that is part of a left pelvic girdle region. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007832 biolink:NamedThing pelvic girdle skeleton Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. tmpak2llvmy_mondo_relaxed.owl skeletal parts of pelvic girdle|pelvic girdle|skeleton of pelvic girdle|pelvic girdle skeleton owl:Class UBERON:0006175 biolink:NamedThing pronephric distal tubule tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005310 biolink:NamedThing pronephric nephron tubule The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. tmpak2llvmy_mondo_relaxed.owl ciliated neck segment|pronephric tubule owl:Class HGNC:26837 biolink:NamedThing AMER1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003935 biolink:NamedThing oncocytic breast carcinoma A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. tmpak2llvmy_mondo_relaxed.owl oncocytic breast carcinoma UMLS:C1518574|DOID:6585|NCIT:C40366 owl:Class MONDO:0100055 biolink:NamedThing intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene. tmpak2llvmy_mondo_relaxed.owl intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion|intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion NCIT:C178236 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000100 biolink:NamedThing motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. tmpak2llvmy_mondo_relaxed.owl motoneuron WBbt:0005409|BTO:0000312|FMA:83617 cell owl:Class CL:0000527 biolink:NamedThing efferent neuron A neuron which sends impulses peripherally to activate muscles or secretory cells. tmpak2llvmy_mondo_relaxed.owl output neuron cell owl:Class HGNC:11497 biolink:NamedThing SYNGAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000785 biolink:NamedThing mature B cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. tmpak2llvmy_mondo_relaxed.owl mature B-cell|mature B lymphocyte|mature B-lymphocyte Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class GO:2000831 biolink:NamedThing regulation of steroid hormone secretion Any process that modulates the frequency, rate or extent of steroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002786 biolink:NamedThing diencephalic cancer A cancer involving a diencephalon. tmpak2llvmy_mondo_relaxed.owl cancer of diencephalon|malignant diencephalic tumor|diencephalon cancer|tumor of diencephalon|malignant diencephalic neoplasm|malignant diencephalic neoplasms|malignant diencephalon neoplasm|malignant neoplasm of diencephalon|diencephalic neoplasm NCIT:C5126|DOID:3843|UMLS:C1334576 owl:Class MONDO:0002071 biolink:NamedThing supratentorial cancer Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. tmpak2llvmy_mondo_relaxed.owl malignant supratentorial tumor|malignant supratentorial neoplasm|brain neoplasm, supratentorial|supratentorial neoplasms, malignant DOID:1659|ICD10:C71.0|NCIT:C4964|MESH:D015173 owl:Class MONDO:0006890 biolink:NamedThing parathyroid gland adenoma A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. tmpak2llvmy_mondo_relaxed.owl adenoma of parathyroid gland|adenoma of the parathyroid gland|adenoma of parathyroid|parathyroid gland adenoma|parathyroid adenoma|adenoma of the parathyroid EFO:1001087|MedDRA:10033940|SCTID:128474007|HP:0002897|DOID:7608|UMLS:C0262587|NCIT:C3916 owl:Class UBERON:0034903 biolink:NamedThing left atrium endocardium Endocardium that is part of the left atrium. tmpak2llvmy_mondo_relaxed.owl endocardium of left atrium|left atrium endocardial tissue|left atrial endocardium owl:Class UBERON:0002166 biolink:NamedThing endocardium of atrium Endocardium that is part of the atrium. tmpak2llvmy_mondo_relaxed.owl endocardium of Cardiac atria|cardiac atrium endocardium|endocardium of cardiac atrium|heart atrium endocardium|atrium endocardial tissue|atrium endocardium|atrial endocardium|atrium of heart endocardium|endocardium of heart atrium|endocardium of atrium of heart|Cardiac atria endocardium owl:Class MONDO:0003842 biolink:NamedThing childhood cerebellar astrocytic neoplasm Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric astrocytoma of cerebellum|pediatric astrocytoma of the cerebellum|cerebellum childhood astrocytic tumor|cerebellar astrocytoma|pediatric cerebellar astrocytoma|childhood astrocytic tumor of cerebellum|childhood astrocytoma of the cerebellum|cerebellar astrocytoma, childhood|cerebellum juvenile astrocytoma|childhood cerebellar astrocytoma|childhood astrocytoma of cerebellum GARD:0009301|UMLS:C0278594|NCIT:C6286|DOID:6286 owl:Class MONDO:0003165 biolink:NamedThing cerebellar astrocytoma Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. tmpak2llvmy_mondo_relaxed.owl astrocytoma, cerebellar|cerebellum astrocytoma (excluding glioblastoma)|astrocytoma of the cerebellum|cerebellum astrocytoma|cerebellar astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum|astrocytoma of cerebellum UMLS:C0740480|DOID:4848|NCIT:C9475 owl:Class GO:0019725 biolink:NamedThing cellular homeostasis Any process involved in the maintenance of an internal steady state at the level of the cell. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006677 biolink:NamedThing surface of epithelium An anatomical boundary that adjacent_to a epithelium. tmpak2llvmy_mondo_relaxed.owl epithelium surface owl:Class MONDO:0006841 biolink:NamedThing lymphangioendothelioma A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. tmpak2llvmy_mondo_relaxed.owl acquired progressive lymphangioma SCTID:403975006|EFO:1001026|NCIT:C3203 owl:Class MONDO:0002013 biolink:NamedThing lymphangioma A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. tmpak2llvmy_mondo_relaxed.owl lymphangioma|congenital lymphangioma|LM|benign lymphangioma (morphologic abnormality)|benign lymphangioma|lymphangioma, benign SCTID:400178008|MESH:D008202|GARD:0009789|ICDO:9170/0|DOID:1475|UMLS:CN201700|Orphanet:2415|ICD10:D18.1|NCIT:C8965|ICD9:228.1|SCTID:254836000 owl:Class MONDO:0008170 biolink:NamedThing ovarian cancer A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. tmpak2llvmy_mondo_relaxed.owl malignant ovarian tumor|ovarian neoplasm|primary ovarian cancer|ovary neoplasm|malignant tumor of ovary|cancer of ovary|malignant neoplasm of the ovary|malignant neoplasm of ovary|tumor of the ovary|malignant ovarian neoplasm|malignant tumour of ovary|malignant ovary neoplasm|ovarian cancer, epithelial|malignant tumor of the ovary|ovary cancer|ovarian cancer|ovarian malignant tumor|cancer of the ovary MESH:D010051|ICD9:183.0|SCTID:363443007|OMIM:167000|DOID:2394|Orphanet:213500|ICD10:C56|GARD:0007295|NCIT:C7431 owl:Class MONDO:0021068 biolink:NamedThing ovarian neoplasm A benign, borderline, or malignant neoplasm involving the ovary. tmpak2llvmy_mondo_relaxed.owl ovarian tumor|ovarian neoplasm|neoplasm of ovary|ovary tumor|ovary neoplasm|ovary neoplasm (disease)|tumor of ovary|ovarian tumors|tumor of the ovary|neoplasm of the ovary UMLS:CN236629|NCIT:C4984|SCTID:123843001|ICD9:239.5 owl:Class MONDO:0007776 biolink:NamedThing hypersensitivity pneumonitis, familial An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary hypersensitivity pneumonitis|hypersensitivity pneumonitis, familial UMLS:C1840386|OMIM:145300|MESH:C536846 owl:Class MONDO:0009448 biolink:NamedThing iminoglycinuria Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl iminoglycinuria ICD10:E72.0|ICD9:270.8|GARD:0008424|MESH:C536285|SCTID:84121007|OMIM:242600|UMLS:C0268654|Orphanet:42062 https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria owl:Class MONDO:0017687 biolink:NamedThing disorder of neutral amino acid transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. tmpak2llvmy_mondo_relaxed.owl rare inborn error of neutral amino acid transport|inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder ICD10:E72.0|Orphanet:308451|UMLS:CN203583 owl:Class MONDO:0004214 biolink:NamedThing ovarian endometrioid cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian endometrioid cystadenofibroma NCIT:C27288|DOID:7411|UMLS:C1335158 owl:Class MONDO:0003463 biolink:NamedThing ovarian endometrioid adenofibroma A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian endometrioid adenofibroma ICDO:8381/0|NCIT:C27287|UMLS:C2212024|DOID:5480|ICDO:8380/0 owl:Class MONDO:0008565 biolink:NamedThing familial thyroglossal duct cyst Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. tmpak2llvmy_mondo_relaxed.owl thyroglossal duct cysts familial|hereditary thyroglossal duct cysts|thyroglossal duct cysts|hereditary thyroglossal duct cyst|thyroglossal duct cyst, familial GARD:0005204|SCTID:717331000|MESH:C536909|Orphanet:93953|OMIM:188455|UMLS:C3495590|ICD10:Q89.2 https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst owl:Class MONDO:0006460 biolink:NamedThing thyroglossal duct cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. tmpak2llvmy_mondo_relaxed.owl MESH:D013955|EFO:1000585|SCTID:39462005|ICD9:759.2 owl:Class MONDO:0015977 biolink:NamedThing agammaglobulinemia A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. tmpak2llvmy_mondo_relaxed.owl mu heavy chain deficiency|hypogammaglobulinemia|Immunoglobulin Deficiency|agammaglobulinemia|IGHM|Gammaglobulin Deficiency|antibody Deficiency GARD:0007455|MESH:D000361|DOID:2583|MedDRA:10001471|Orphanet:183669|OMIMPS:601495|ICD9:279.00|ICD10:D80.1 owl:Class MONDO:0006135 biolink:NamedThing cervical clear cell adenocarcinoma A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). tmpak2llvmy_mondo_relaxed.owl cervix uteri clear cell adenocarcinoma|clear cell adenocarcinoma of the cervix uteri|clear cell carcinoma of the uterine cervix|clear cell adenocarcinoma of cervix|cervical clear cell adenocarcinoma|clear cell carcinoma of cervix|cervical clear cell carcinoma|uterine cervix clear cell adenocarcinoma|cervix uteri clear cell carcinoma|cervix clear cell adenocarcinoma|clear cell adenocarcinoma of cervix uteri|clear cell carcinoma of the cervix|clear cell carcinoma of uterine cervix|clear cell adenocarcinoma of the cervix|clear cell adenocarcinoma of uterine cervix|clear cell adenocarcinoma of the uterine cervix|clear cell carcinoma of cervix uteri|cervix clear cell carcinoma|uterine cervix clear cell carcinoma|clear cell carcinoma of the cervix uteri UMLS:C1332912|ONCOTREE:CECC|EFO:1000163|DOID:5303|NCIT:C6344 owl:Class MONDO:0020519 biolink:NamedThing hand-Schuller-Christian disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. tmpak2llvmy_mondo_relaxed.owl hand-Schuller-Christian disease|chronic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease|multifocal eosinophilic granuloma|multifocal Unisystem Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis SCTID:39795003|ICD10:C96.5|NCIT:C6920|ICDO:9753/1|UMLS:CN207416|ICD9:277.89|Orphanet:99873 owl:Class MONDO:0012206 biolink:NamedThing Czech dysplasia, metatarsal type Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. tmpak2llvmy_mondo_relaxed.owl Czech dysplasia metatarsal type|spondyloepiphyseal dysplasia with precocious osteoarthritis|pseudorheumatoid dysplasia progressive, with hypoplastic toes|Czech dysplasia, metatarsal type|pseudorheumatoid dysplasia, progressive, with hypoplastic toes|Czech dysplasia OMIM:609162|Orphanet:137678|SCTID:720826006|ICD10:Q77.7|GARD:0010220|MESH:C535766 https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type owl:Class MONDO:0010943 biolink:NamedThing schizophrenia 4 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. tmpak2llvmy_mondo_relaxed.owl schizophrenia 4|schizophrenia type 4|schizophrenia susceptibility locus, chromosome 22Q11-related|SCZD4 UMLS:C1833247|OMIM:600850|DOID:0070080 owl:Class UBERON:0011300 biolink:NamedThing gray matter of telencephalon A portion of gray matter that is part of a telencephalon. tmpak2llvmy_mondo_relaxed.owl predominantly gray regional part of telencephalon owl:Class UBERON:0019264 biolink:NamedThing gray matter of forebrain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018637 biolink:NamedThing familial chylomicronemia syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN231410|Orphanet:444490|ICD10:E78.3|DOID:0111417 owl:Class HGNC:7797 biolink:NamedThing NFKBIA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016355 biolink:NamedThing semilobar holoprosencephaly Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. tmpak2llvmy_mondo_relaxed.owl Orphanet:220386|ICD10:Q04.2 owl:Class MONDO:0010111 biolink:NamedThing odontotrichomelic syndrome Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl odontotrichomelic hypohidrotic dysplasia|Freire-Maia odontotrichomelic syndrome|Freire-Maia syndrome|odontotrichomelic syndrome|tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities MESH:C535637|UMLS:CN074199|Orphanet:2723|OMIM:273400|SCTID:239028001|GARD:0002381|UMLS:C2930960 https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome owl:Class MONDO:0009263 biolink:NamedThing gapo syndrome GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations tmpak2llvmy_mondo_relaxed.owl Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|gapo syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|Growth retardation, alopecia, pseudoanodontia and optic atrophy OMIM:230740|SCTID:721843003|Orphanet:2067|GARD:0000400|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome owl:Class UBERON:0004027 biolink:NamedThing chorionic plate That portion of the chorionic wall in the region of its uterine attachment, which gives rise to chorionic villi; it consists of the mesoderm that lines the chorionic vesicle and, on the maternal side, of the trophoblast that lines the intervillous spaces; in the last half of gestation, the mesodermal connective tissue is largely replaced by fibrinoid material, and the amnionic membrane is adherent to the fetal side of the plate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011923 biolink:NamedThing osteoarthritis susceptibility 3 Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. tmpak2llvmy_mondo_relaxed.owl osteoarthritis susceptibility type 3|OS3|ASPN osteoarthritis|osteoarthritis susceptibility 3|osteoarthritis of knee/hip|osteoarthritis caused by mutation in ASPN OMIM:607850 owl:Class MONDO:0001507 biolink:NamedThing viral labyrinthitis An labyrinthitis caused by infection with Viruses. tmpak2llvmy_mondo_relaxed.owl epidemic vertigo (finding)|Viruses caused labyrinthitis|epidemic vertigo|Viruses labyrinthitis DOID:12357|ICD9:386.35|SCTID:409711008|UMLS:C0155508 owl:Class CHEBI:23117 biolink:NamedThing chlorine molecular entity A halogen molecular entity containing one or more atoms of chlorine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003208 biolink:NamedThing breast secretory carcinoma A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. tmpak2llvmy_mondo_relaxed.owl secretory carcinoma of the breast|juvenile carcinoma of breast|cystic hypersecretory carcinoma of the breast|juvenile carcinoma of the breast (morphologic abnormality)|cystic hypersecretory breast carcinoma|secretory breast carcinoma|juvenile secretory carcinoma of breast|cystic hypersecretory carcinoma of breast|invasive cystic hypersecretory duct breast carcinoma|secretory carcinoma|infiltrating cystic hypersecretory duct breast carcinoma|juvenile secretory carcinoma of the breast|juvenile carcinoma (formerly)|JSCB|juvenile secretory breast carcinoma|secretory carcinoma of breast|SBC|juvenile breast carcinoma|juvenile carcinoma of the breast ICDO:8502/3|ICDO:8508/3|GARD:0009408|MESH:C537535|ONCOTREE:JSCB|NCIT:C4189|UMLS:C0334371|DOID:4922 https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma owl:Class MONDO:0008948 biolink:NamedThing cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. tmpak2llvmy_mondo_relaxed.owl cerebrotendinous xanthomatosis|cholestanol storage disease|sterol 27-hydroxylase deficiency|CTx|cerebral cholesterinosis SCTID:63246000|OMIM:213700|DOID:4810|Orphanet:909|GARD:0005622|UMLS:C0238052|NCIT:C84628|ICD10:E75.5|MESH:D019294 https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis owl:Class MONDO:0002615 biolink:NamedThing xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. tmpak2llvmy_mondo_relaxed.owl xanthomatosis|xanthomatosis (disease)|xanthelasmatosis xanthomatosis (disease) UMLS:C0043325|DOID:3345|HP:0000991|SCTID:63103006 owl:Class GO:0050994 biolink:NamedThing regulation of lipid catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpak2llvmy_mondo_relaxed.owl regulation of lipid degradation|regulation of lipid catabolism|regulation of lipid breakdown owl:Class MONDO:0030296 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 4 tmpak2llvmy_mondo_relaxed.owl megacystis-microcolon-intestinal hypoperistalsis syndrome 4|MMIHS4 OMIM:619365 owl:Class MONDO:0012705 biolink:NamedThing familial temporal lobe epilepsy 3 tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 3|epilepsy, familial mesial temporal lobe|familial mesial temporal lobe epilepsy|familial temporal lobe epilepsy type 3|FMTLE|ETL3 MESH:C566903|UMLS:C1968848|DOID:0060750|OMIM:611630 MONDO:0000823 owl:Class GO:1901698 biolink:NamedThing response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpak2llvmy_mondo_relaxed.owl response to nitrogen molecular entity owl:Class MONDO:0019621 biolink:NamedThing chronic pneumonitis of infancy Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). tmpak2llvmy_mondo_relaxed.owl CPI UMLS:C3872848|UMLS:CN206472|ICD10:J84.0|Orphanet:91359|SCTID:708026002 owl:Class MONDO:0018528 biolink:NamedThing congenital myopathy with myasthenic-like onset Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. tmpak2llvmy_mondo_relaxed.owl congenital myopathy with myasthenic-like onset Orphanet:424107|SCTID:763315005|ICD10:G71.2 owl:Class UBERON:0006246 biolink:NamedThing humerus pre-cartilage condensation A humerus endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl humeral pre-cartilage condensation owl:Class MONDO:0014941 biolink:NamedThing arthrogryposis, distal, with impaired proprioception and touch tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, with impaired proprioception and touch; DAIPT|arthrogryposis, distal, with impaired proprioception and touch|DAIPT UMLS:C4310692|OMIM:617146 owl:Class MONDO:0006633 biolink:NamedThing acalculous cholecystitis Inflammation of the gallbladder in the absence of gallstones. tmpak2llvmy_mondo_relaxed.owl acute cholecystitis without calculus|acute acalculous cholecystitis|cholecystitis without calculus MESH:D042101|MedDRA:10000347|UMLS:C0267842|NCIT:C35578|UMLS:C0267841|SCTID:19968009|DOID:2828|EFO:1000790 owl:Class UBERON:0000317 biolink:NamedThing colonic mucosa Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells. tmpak2llvmy_mondo_relaxed.owl colonic mucosa|colon mucous membrane|mucosa of colon|colon mucosa|large bowel mucosa|mucosa of large bowel|colonic mucous membrane owl:Class PATO:0001776 biolink:NamedThing increased flexibility A flexibility which is relatively high. tmpak2llvmy_mondo_relaxed.owl high flexibility owl:Class PATO:0001544 biolink:NamedThing flexible A physical quality inhering in a bearer by virtue of the bearer's ability of being turned, bowed, or twisted without breaking. tmpak2llvmy_mondo_relaxed.owl bendy owl:Class UBERON:0036654 biolink:NamedThing wall of lateral ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031330 biolink:NamedThing negative regulation of cellular catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl inhibition of cellular catabolic process|downregulation of cellular catabolic process|negative regulation of cellular catabolism|negative regulation of cellular breakdown|negative regulation of cellular degradation|down-regulation of cellular catabolic process|down regulation of cellular catabolic process owl:Class BFO:0000002 biolink:NamedThing continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.|An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. tmpak2llvmy_mondo_relaxed.owl Continuant continuant Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants|BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240 continuant A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) (forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] |(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] |(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] |(forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])|if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])|if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002]) owl:Class BFO:0000001 biolink:NamedThing entity tmpak2llvmy_mondo_relaxed.owl Entity entity Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf|BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81 entity An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) Julius Caesar|your body mass index|Verdi’s Requiem|the Second World War owl:Class GO:0008585 biolink:NamedThing female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl ovary development|ovarian development owl:Class GO:0008406 biolink:NamedThing gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. tmpak2llvmy_mondo_relaxed.owl gonadogenesis owl:Class HP:0003027 biolink:NamedThing Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. tmpak2llvmy_mondo_relaxed.owl Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb|Mesomelic shortening of limbs|Mesomelic limb shortening UMLS:C0549306 Shortening of the limbs where the predominant shortness is in the middle bones. human_phenotype owl:Class HP:0009826 biolink:NamedThing Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. tmpak2llvmy_mondo_relaxed.owl Hypoplasia involving bones of the extremities|Short limbs|limb shortening|Short limb|Limb undergrowth UMLS:C0239399 doelkens 2009-02-23T05:16:44Z HP:0005057|HP:0003058|HP:0005049 human_phenotype owl:Class HGNC:890 biolink:NamedThing AUH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001970 biolink:NamedThing bile vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. tmpak2llvmy_mondo_relaxed.owl fel|gall owl:Class CHEBI:15379 biolink:NamedThing dioxygen tmpak2llvmy_mondo_relaxed.owl molecular oxygen|OXYGEN MOLECULE|E 948|dioxygen|E948|Disauerstoff|Oxygen|E-948|dioxygene|O2|[OO] owl:Class UBERON:0003953 biolink:NamedThing posterior stroma of cornea The posterior segment of the lamellated connective tissue layer of the cornea tmpak2llvmy_mondo_relaxed.owl cornea posterior stroma|posterior stroma owl:Class UBERON:0003566 biolink:NamedThing head connective tissue A portion of connective tissue that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of head|head portion of connective tissue|adult head portion of connective tissue|textus connectivus of adult head|adult head connective tissue|textus connectivus of head|adult head textus connectivus|head textus connectivus|connective tissue of adult head|portion of connective tissue of adult head|portion of connective tissue of head owl:Class CL:0000790 biolink:NamedThing immature alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. tmpak2llvmy_mondo_relaxed.owl immature alpha-beta T lymphocyte|immature alpha-beta T-lymphocyte|immature alpha-beta T-cell cell owl:Class MONDO:0015157 biolink:NamedThing human herpesvirus 8-related tumor tmpak2llvmy_mondo_relaxed.owl HHV-8-related disorder UMLS:CN226610|Orphanet:102024 Editor note: TODO check this owl:Class NCBITaxon:83138 biolink:NamedThing Anystina tmpak2llvmy_mondo_relaxed.owl Anystides GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6947 biolink:NamedThing Prostigmata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012449 biolink:NamedThing spinocerebellar ataxia type 23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. tmpak2llvmy_mondo_relaxed.owl SCA23|spinocerebellar ataxia type 23|spinocerebellar ataxia 23 GARD:0009950|SCTID:718772002|Orphanet:101108|UMLS:C4305146|ICD10:G11.2|OMIM:610245|UMLS:C1853250|MESH:C537201|DOID:0050973 owl:Class MONDO:0020804 biolink:NamedThing basal cell carcinoma A carcinoma involving the basal cells. tmpak2llvmy_mondo_relaxed.owl malignant basal cell neoplasm|basal cell cancer|epithelioma, basal cell NCIT:C156767|NCIT:C7586|MESH:D002280 owl:Class MONDO:0003704 biolink:NamedThing uterine corpus diffuse leiomyomatosis An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. tmpak2llvmy_mondo_relaxed.owl uterine corpus leiomyomatosis|uterine corpus diffuse leiomyomatosis|body of uterus leiomyomatosis|leiomyomatosis of body of uterus NCIT:C40170|DOID:5916|DOID:5917|UMLS:C1519855 owl:Class MONDO:0003295 biolink:NamedThing leiomyomatosis A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. tmpak2llvmy_mondo_relaxed.owl leiomyomatosis, no ICD-O subtype (morphologic abnormality)|leiomyomatosis, no ICD-O subtype|leiomyomatosis DOID:5138|ICDO:8890/1|MESH:D018231|UMLS:C0206654|NCIT:C3748 owl:Class GO:0004457 biolink:NamedThing lactate dehydrogenase activity Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016614 biolink:NamedThing oxidoreductase activity, acting on CH-OH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on the CH-OH group of donors, other acceptors owl:Class MONDO:0013040 biolink:NamedThing atypical hemolytic-uremic syndrome with MCP/CD46 anomaly tmpak2llvmy_mondo_relaxed.owl AHUS, susceptibility to, 2|aHUS2|hemolytic uremic syndrome, atypical, susceptibility to, type 2|AHUS2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 2|aHUS with MCP/CD46 anomaly|susceptibility to atypical hemolytic uremic syndrome 2|atypical HUS with MCP/CD46 anomaly|D-HUS with MCP/CD46 anomaly ICD10:D58.8|OMIM:612922|Orphanet:93576 owl:Class MONDO:0001100 biolink:NamedThing hypertrophy of breast Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. tmpak2llvmy_mondo_relaxed.owl pregnancy-induced gigantomastia (subtype)|drug-induced gigantomastia (subtype)|hypertrophy of the breast|large breast|idiopathic gigantomastia (subtype)|puberty-induced gigantomastia (subtype)|macromastia|breasts enlarged|gestational gigantomastia (subtype)|medication-induced gigantomastia (subtype)|gigantomastia|juvenile gigantomastia (subtype)|breast Hypertrophy NCIT:C3125|ICD10:N62|GARD:0009450|SCTID:372281005|ICD9:611.1|DOID:10688 owl:Class MONDO:0011409 biolink:NamedThing hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection tmpak2llvmy_mondo_relaxed.owl hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection|hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|Sm2 OMIM:604201 owl:Class MONDO:0000093 biolink:NamedThing Schistosoma mansoni infection, susceptibility tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:0000409 biolink:NamedThing denotator type A denotator type indicates how a term should be interpreted from an ontological perspective.|A denotator type indicates how a term should be interpreted from an ontological perspective. tmpak2llvmy_mondo_relaxed.owl Barry Smith, Werner Ceusters|Barry Smith, Werner Ceusters denotator type The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities.|The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities. Alan Ruttenberg|Alan Ruttenberg owl:Class IAO:0000102 biolink:NamedThing data about an ontology part data about an ontology part is a data item about a part of an ontology, for example a term|Data about an ontology part is a data item about a part of an ontology, for example a term tmpak2llvmy_mondo_relaxed.owl data about an ontology part Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:Class MONDO:0014060 biolink:NamedThing progressive retinal dystrophy due to retinol transport defect tmpak2llvmy_mondo_relaxed.owl retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS UMLS:C3554593|Orphanet:352718|OMIM:615147|ICD10:H35.5 owl:Class MONDO:0013074 biolink:NamedThing encephalocraniocutaneous lipomatosis A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. tmpak2llvmy_mondo_relaxed.owl ECCL|Haberland syndrome|encephalocraniocutaneous lipomatosis|Fishman syndrome OMIM:613001|UMLS:C0406612|NCIT:C4701|ICD10:E88.2|MESH:C535736|ICD9:757.8|SCTID:238905009|Orphanet:2396|GARD:0002108 https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis owl:Class MONDO:0019296 biolink:NamedThing subcutaneous tissue disease A disease involving the superficial fascia. tmpak2llvmy_mondo_relaxed.owl disorder of superficial fascia|superficial fascia disease|disease of superficial fascia|superficial fascia disease or disorder|disease or disorder of superficial fascia UMLS:C1290008|Orphanet:79382 owl:Class MONDO:0010843 biolink:NamedThing dyslexia, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl DYX2|dyslexia, susceptibility to, 2|reading disability, specific, 2 OMIM:600202 owl:Class MONDO:0005489 biolink:NamedThing dyslexia A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. tmpak2llvmy_mondo_relaxed.owl dyslexia (disease)|dyslexia dyslexia (disease) NCIT:C96410|DOID:4428|ICD10:F81.0|EFO:0005424|HP:0010522 owl:Class UBERON:0004652 biolink:NamedThing humerus diaphysis The body or shaft of the humerus is almost cylindrical in the upper half of its extent, prismatic and flattened below, and has three borders and three surfaces. tmpak2llvmy_mondo_relaxed.owl shaft of humerus|diaphysis of humerus|humeral diaphysis|corpus humeri|body of the humerus|shaft of the humerus|body of humerus|medial humerus owl:Class UBERON:0000166 biolink:NamedThing oral opening The orifice that connects the mouth to the exterior of the body. tmpak2llvmy_mondo_relaxed.owl oral fissure|oral part of face|mouth|oral orifice owl:Class GO:0033365 biolink:NamedThing protein localization to organelle A process in which a protein is transported to, or maintained in, a location within an organelle. tmpak2llvmy_mondo_relaxed.owl protein localization in organelle|protein localisation to organelle owl:Class GO:0034613 biolink:NamedThing cellular protein localization Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpak2llvmy_mondo_relaxed.owl cellular protein localisation|channel localizer activity owl:Class UBERON:0004942 biolink:NamedThing submucosa of left hepatic duct A submucosa that is part of a left hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left hepatic duct submucosa|left hepatic ductal submucosa owl:Class MONDO:0001108 biolink:NamedThing broad ligament malignant neoplasm A malignant neoplasm involving the broad ligament of uterus. tmpak2llvmy_mondo_relaxed.owl broad ligament of uterus cancer|malignant neoplasm of broad ligament of uterus|malignant broad ligament of uterus neoplasm|cancer of broad ligament of uterus ICD9:183.3|SCTID:449259009|DOID:10744|UMLS:C0346866|ICD10:C57.1 owl:Class HGNC:11849 biolink:NamedThing TLR3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043433 biolink:NamedThing negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpak2llvmy_mondo_relaxed.owl negative regulation of thyroid hormone receptor activity|downregulation of transcription factor activity|negative regulation of DNA binding transcription factor activity|negative regulation of sequence-specific DNA binding transcription factor activity|inhibition of transcription factor activity|down regulation of transcription factor activity|negative regulation of transcription factor activity|negative regulation of androgen receptor activity|down-regulation of transcription factor activity owl:Class GO:0051090 biolink:NamedThing regulation of DNA-binding transcription factor activity Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpak2llvmy_mondo_relaxed.owl regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription factor activity|regulation of thyroid hormone receptor activity|regulation of androgen receptor activity|regulation of DNA binding transcription factor activity owl:Class MONDO:0021257 biolink:NamedThing glomus jugulare neoplasm A neoplasm (disease) that involves the jugular body. tmpak2llvmy_mondo_relaxed.owl jugular body neoplasm|jugular body neoplasm (disease)|neoplasm of jugular body|jugular body tumor|tumor of jugular body Editor note: consider merging with jugulotympanic paraganglioma owl:Class UBERON:0011092 biolink:NamedThing right pelvic girdle region A pelvic girdle region that is in the right side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl right pelvic girdle owl:Class UBERON:0001271 biolink:NamedThing pelvic girdle region The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. tmpak2llvmy_mondo_relaxed.owl pelvic girdle|girdle - pelvic owl:Class GO:0019362 biolink:NamedThing pyridine nucleotide metabolic process The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpak2llvmy_mondo_relaxed.owl pyridine nucleotide metabolism owl:Class GO:0009117 biolink:NamedThing nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). tmpak2llvmy_mondo_relaxed.owl nucleotide metabolism owl:Class MONDO:0017682 biolink:NamedThing intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. tmpak2llvmy_mondo_relaxed.owl intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome Orphanet:3082|UMLS:C2931547|GARD:0003141|MESH:C537615|ICD10:Q87.2 owl:Class UBERON:0005469 biolink:NamedThing right thymus lobe A thymus lobe that is in the right side of a thymus. tmpak2llvmy_mondo_relaxed.owl right thymic lobe|right lobe of thymus owl:Class UBERON:0011930 biolink:NamedThing preganglionic parasympathetic fiber A cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion tmpak2llvmy_mondo_relaxed.owl parasympathetic preganglionic fiber owl:Class UBERON:0006134 biolink:NamedThing nerve fiber A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. tmpak2llvmy_mondo_relaxed.owl nerve fibre|nerve fibers|neurofibra|neurofibrum owl:Class MONDO:0017974 biolink:NamedThing 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors tmpak2llvmy_mondo_relaxed.owl 46,XY DSD induced by maternal-exposure to endocrine disruptors Orphanet:325537|UMLS:CN227235 owl:Class MONDO:0017969 biolink:NamedThing 46,XY disorder of sex development of endocrine origin tmpak2llvmy_mondo_relaxed.owl 46,XY DSD of endocrine origin Orphanet:325351|UMLS:CN227232 owl:Class UBERON:0002329 biolink:NamedThing somite Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. tmpak2llvmy_mondo_relaxed.owl mesodermal cluster|epimere|somitic mesoderm|epithelial somite|somites|epimere mesoderm|somitus owl:Class UBERON:0007503 biolink:NamedThing epithelial vesicle A closed epithelium with a lumen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003604 biolink:NamedThing functioning pituitary gland neoplasm A hormone producing pituitary gland tumor, associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl functioning pituitary tumor|hormone producing pituitary cancer|functioning endocrine neoplasm of pituitary gland|functioning pituitary gland neoplasm|pituitary gland functioning endocrine neoplasm|pituitary tumors, hormone producing|pituitary neoplasms, hormone producing|secretory pituitary tumor|hormone producing pituitary neoplasm|somatotropinoma|functioning pituitary neoplasm NCIT:C7047|ICD9:237.0|UMLS:C3163678|UMLS:C0851693|SCTID:448148000|DOID:5716 owl:Class MONDO:0021120 biolink:NamedThing functioning endocrine neoplasm A hormone producing endocrine neoplasm, associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl functioning endocrine neoplasm|functioning tumor UMLS:C2986655|ICDO:8158/1|NCIT:C94759 owl:Class GO:0002792 biolink:NamedThing negative regulation of peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. tmpak2llvmy_mondo_relaxed.owl down regulation of peptide secretion|down-regulation of peptide secretion|inhibition of peptide secretion|downregulation of peptide secretion owl:Class GO:0032278 biolink:NamedThing positive regulation of gonadotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. tmpak2llvmy_mondo_relaxed.owl stimulation of gonadotropin secretion|positive regulation of gonadotrophin secretion|upregulation of gonadotropin secretion|activation of gonadotropin secretion|up-regulation of gonadotropin secretion|up regulation of gonadotropin secretion owl:Class MONDO:0019218 biolink:NamedThing inborn disorder of bile acid synthesis Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. tmpak2llvmy_mondo_relaxed.owl disorder of bile acid synthesis|rare inborn error of bile acid biosynthetic process|inborn errors of bile acid synthesis|inborn bile acid biosynthetic process disorder|inborn error of bile acid biosynthetic process GTR:AN0923838|UMLS:CN544763|UMLS:CN231736|Orphanet:79168 owl:Class CHEBI:84087 biolink:NamedThing human urinary metabolite Any metabolite (endogenous or exogenous) found in human urine samples. tmpak2llvmy_mondo_relaxed.owl human urinary metabolites owl:Class CHEBI:77746 biolink:NamedThing human metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). tmpak2llvmy_mondo_relaxed.owl H. sapiens metabolites|Homo sapiens metabolite|Homo sapiens metabolites|H. sapiens metabolite owl:Class MONDO:0008667 biolink:NamedThing von Hippel-Lindau disease Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. tmpak2llvmy_mondo_relaxed.owl cerebroretinal angiomatosis|familial cerebelloretinal angiomatosis|Von Hippel-Lindau syndrome, Modifiers of|VHL syndrome|VHL|von Hippel-Lindau disease|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome (VHL)|Hippel Lindau syndrome|Lindau disease|VON Hippel-Lindau syndrome|von Hippel-Lindau syndrome|Von Hippel Lindau disease MESH:D006623|DOID:14175|OMIM:193300|ICD10:Q85.8|SCTID:46659004|ICD9:759.6|GARD:0007855|Orphanet:892|NCIT:C3105|UMLS:C0019562|MedDRA:10047716 https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease owl:Class MONDO:0002747 biolink:NamedThing endometrial mucinous adenocarcinoma A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpak2llvmy_mondo_relaxed.owl uterine corpus mucinous adenocarcinoma|endometrial mucinous adenocarcinoma|uterine mucinous carcinoma|endometrium mucinous adenocarcinoma EFO:1000236|UMLS:C1519859|ONCOTREE:UMC|DOID:3707|NCIT:C40144 owl:Class MONDO:0005141 biolink:NamedThing Pseudomonas infection Infections with bacteria of the genus pseudomonas. tmpak2llvmy_mondo_relaxed.owl Pseudomonas caused disease or disorder|Pseudomonas infectious disease|Pseudomonas disease or disorder EFO:0001076|SCTID:63398001|ICD9:041.7|MESH:D011552 owl:Class CL:1000804 biolink:NamedThing kidney outer medulla interstitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001094 cell owl:Class CL:1000616 biolink:NamedThing kidney outer medulla cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001025 cell owl:Class MONDO:0043541 biolink:NamedThing viral conjunctivitis Conjunctivitis resulting from viral infection. tmpak2llvmy_mondo_relaxed.owl viral conjunctivitis|Viruses caused conjunctivitis (disease)|Conjunctivitides, viral|Viruses conjunctivitis (disease)|viral Conjunctivitides NCIT:C34509|SCTID:45261009|UMLS:C0009774|MESH:D003236 owl:Class MONDO:0015241 biolink:NamedThing arthrogryposis-like syndrome Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl arthrogryposis like disorder|Kuskokwim disease|Kuskokwim syndrome ICD9:719.89|GARD:0000783|GARD:0003150|Orphanet:1149|SCTID:702447002 https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder owl:Class HGNC:23505 biolink:NamedThing BMS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013533 biolink:NamedThing hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. tmpak2llvmy_mondo_relaxed.owl hyperlipidemia due to hepatic triacylglycerol lipase deficiency|lipc deficiency|HL deficiency|hyperlipidemia due to HL deficiency|hyperlipidemia due to HTGL deficiency|hepatic lipase deficiency|hyperlipidemia due to hepatic lipase deficiency GARD:0012864|UMLS:C3151466|OMIM:614025|SCTID:720940008|ICD10:E78.4|Orphanet:140905 owl:Class MONDO:0015903 biolink:NamedThing hyperalphalipoproteinemia An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. tmpak2llvmy_mondo_relaxed.owl HALP1 SCTID:238080004|ICD10:E78.4|ICD9:272.4|UMLS:C0342883|NCIT:C128806|Orphanet:181428 owl:Class GO:0019627 biolink:NamedThing urea metabolic process The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. tmpak2llvmy_mondo_relaxed.owl urea metabolism owl:Class GO:0043603 biolink:NamedThing cellular amide metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl amide metabolism owl:Class MONDO:0001525 biolink:NamedThing thyrocalcitonin secretion disease tmpak2llvmy_mondo_relaxed.owl disorder of thyrocalcitonin secretion DOID:12424|SCTID:190303007|ICD9:246.0|UMLS:C0701822 owl:Class MONDO:0009656 biolink:NamedThing Sanfilippo syndrome type B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis type IIIB|mucopolysaccharidosis, type 3B|Sanfilippo B|MPSIIIB|MPS IIIB|MPS 3B|N-acetyl-alpha-glucosaminidase deficiency|NAGLU deficiency|N-Acetyl-Alpha-D-glucosaminidase deficiency|Mucopoly-saccharidosis type 3B|mucopolysaccharidosis, type IIIB|mucopolysaccharidosis type 3B|Sanfilippo syndrome B|MPS III B|MPS3B SCTID:59990008|GARD:0007072|UMLS:C0086648|DOID:0111394|Orphanet:79270|OMIM:252920|NCIT:C84898|ICD10:E76.2 owl:Class GO:1903302 biolink:NamedThing regulation of pyruvate kinase activity Any process that modulates the frequency, rate or extent of pyruvate kinase activity. tmpak2llvmy_mondo_relaxed.owl regulation of phosphoenol transphosphorylase activity|regulation of phosphoenolpyruvate kinase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity owl:Class GO:0051338 biolink:NamedThing regulation of transferase activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpak2llvmy_mondo_relaxed.owl transferase regulator owl:Class HGNC:19012 biolink:NamedThing CORIN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024497 biolink:NamedThing tumor grade 3 or 4, general grading system Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. tmpak2llvmy_mondo_relaxed.owl grade 3/4|high grade NCIT:C14158 owl:Class MONDO:0043537 biolink:NamedThing cluster headache syndrome A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. tmpak2llvmy_mondo_relaxed.owl cluster headache syndrome|histamine Cephalgias|headache syndrome, cluster|headache, chronic cluster|Horton syndrome|horton's neuralgia|Migraines, neuralgic|cluster headache, atypical|syndrome, Horton's|histamine headache|Cephalgias, histamine|cluster headaches, atypical|syndrome, cluster headache|headache, cluster|histamine cephalgia|syndromes, cluster headache|cluster headaches, chronic|headache syndromes, cluster|atypical cluster headaches|cluster headache, episodic|migraine, neuralgic|cluster headache syndromes|histamine Cephalgia|headaches, chronic cluster|neuralgic Migraines|atypical cluster headache|Horton's syndrome|episodic cluster headache|Hortons syndrome|headache, episodic cluster|episodic cluster headaches|horton's headache|ciliary neuralgia|headache, atypical cluster|migrainous neuralgia|cluster headaches, episodic|cluster headache|syndrome, Horton|headaches, cluster|vasomotor headache|chronic cluster headache|neuralgic migraine|ciliary Neuralgias|cluster headache, chronic|headaches, episodic cluster|Cephalgia, histamine|headaches, atypical cluster|neuralgia, ciliary|chronic cluster headaches|cluster headaches|Neuralgias, ciliary NCIT:C117077|SCTID:193031009|MESH:D003027|EFO:0008571 owl:Class MONDO:0015530 biolink:NamedThing trigeminal autonomic cephalalgia A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. tmpak2llvmy_mondo_relaxed.owl NCIT:C117074|ICD9:339.09|SCTID:449814007|MESH:D051303|Orphanet:157843|UMLS:C1565172|ICD10:G44.8 owl:Class MONDO:0003999 biolink:NamedThing juvenile pilocytic astrocytoma A pilocytic astrocytoma that occurs during adolescence. tmpak2llvmy_mondo_relaxed.owl juvenile pilocytic astrocytoma DOID:6811|NCIT:C27081|UMLS:C0280783 owl:Class MONDO:0004000 biolink:NamedThing childhood pilocytic astrocytoma A pilocytic astrocytoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pilocytic astrocytoma|pediatric pilocytic astrocytoma|pilocytic astrocytoma of childhood|childhood pilocytic astrocytoma NCIT:C4048|UMLS:C1332995|DOID:6812 owl:Class UBERON:0003520 biolink:NamedThing pelvis blood vessel A blood vessel that is part of a pelvis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of pelvis owl:Class UBERON:0003707 biolink:NamedThing sinus of Valsalva one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. tmpak2llvmy_mondo_relaxed.owl sinus of Otto|sinus of Morgagni|sinus aorta|Petit's sinus|aortic sinus|Petit sinus|Valsalva sinus|sinus aortae owl:Class GO:0044065 biolink:NamedThing regulation of respiratory system process Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044057 biolink:NamedThing regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007848 biolink:NamedThing autosomal dominant keratitis Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. tmpak2llvmy_mondo_relaxed.owl keratitis, hereditary|hereditary keratitis|dominantly inherited keratitis|keratitis, autosomal dominant UMLS:C4017065|UMLS:C1835698|UMLS:CN068649|SCTID:715339004|DOID:0111383|ICD10:H16.8|OMIM:148190|MESH:C537022|GARD:0003089|Orphanet:2334 owl:Class MONDO:0011810 biolink:NamedThing horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. tmpak2llvmy_mondo_relaxed.owl gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|progressive external ophthalmoplegia and scoliosis|ophthalmoplegia, progressive external, and scoliosis|gaze palsy, horizontal, with progressive scoliosis SCTID:702381007|ICD9:737.43|OMIMPS:607313|GARD:0012682|UMLS:C1846496|Orphanet:2744|MESH:C564593|ICD10:H49.4 https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis owl:Class GO:1900543 biolink:NamedThing negative regulation of purine nucleotide metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. tmpak2llvmy_mondo_relaxed.owl downregulation of purine metabolic process|inhibition of purine nucleotide metabolic process|down regulation of purine nucleotide metabolism|negative regulation of purine metabolic process|inhibition of purine metabolism|down-regulation of purine metabolic process|down regulation of purine metabolic process|down regulation of purine nucleotide metabolic process|downregulation of purine metabolism|down-regulation of purine nucleotide metabolic process|downregulation of purine nucleotide metabolic process|down regulation of purine metabolism|negative regulation of purine metabolism|inhibition of purine nucleotide metabolism|downregulation of purine nucleotide metabolism|negative regulation of purine nucleotide metabolism|down-regulation of purine metabolism|down-regulation of purine nucleotide metabolism|inhibition of purine metabolic process owl:Class ENVO:01001618 biolink:NamedThing ice accumulation process A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000009 biolink:NamedThing material accumulation process A process during which the mass of one or more materials, present within a given site, increases. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3513 biolink:NamedThing EXT2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26575 biolink:NamedThing PRIMPOL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003544 biolink:NamedThing brain white matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. tmpak2llvmy_mondo_relaxed.owl brain white substance|brain white matter of neuraxis|white matter of brain|white substance of brain|white matter of neuraxis of brain owl:Class MONDO:0019517 biolink:NamedThing Waardenburg syndrome type 2 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome type 2|WS type 2|WS 2|Waardenburg syndrome type II|WS2 Orphanet:895|MESH:C536463|GARD:0005520|ICD10:E70.3|NCIT:C75009|UMLS:C2700265 https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 owl:Class MONDO:0007068 biolink:NamedThing adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. tmpak2llvmy_mondo_relaxed.owl adenylosuccinate lyase deficiency|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|ADSL deficiency|adenylosuccinase deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|ADSLD|Adsl deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|adenylosuccinase lyase deficiency OMIM:103050|GARD:0000550|UMLS:C0268126|SCTID:15285008|Orphanet:46|DOID:0050762|MESH:C538235|ICD10:E79.8|ICD9:277.2 owl:Class MONDO:0010638 biolink:NamedThing keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. tmpak2llvmy_mondo_relaxed.owl keratosis follicularis, dwarfism, and cerebral atrophy|keratosis follicularis dwarfism and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis OMIM:308830|Orphanet:2339|ICD10:Q87.1|GARD:0003099|UMLS:C1839910|MESH:C536158 https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy owl:Class MONDO:0013385 biolink:NamedThing Treacher Collins syndrome 2 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. tmpak2llvmy_mondo_relaxed.owl Treacher Collins syndrome type 2|Treacher-Collins syndrome caused by mutation in POLR1D|TCS2|POLR1D Treacher-Collins syndrome|TREACHER COLLINS syndrome 2|Treacher Collins syndrome 2 OMIM:613717|UMLS:C3150983 owl:Class MONDO:0008440 biolink:NamedThing spastic paraplegia-nephritis-deafness syndrome This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia - nephritis - deafness|Fitzsimmons Walson Mellor syndrome|spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy Orphanet:2820|UMLS:C2931667|OMIM:182690|GARD:0002342|MESH:C537937 https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome owl:Class GO:1903131 biolink:NamedThing mononuclear cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002521 biolink:NamedThing leukocyte differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpak2llvmy_mondo_relaxed.owl leucocyte differentiation|immune cell differentiation owl:Class ECTO:9001627 biolink:NamedThing exposure to inorganic acid An exposure to inorganic acid. tmpak2llvmy_mondo_relaxed.owl exposure to inorganic acid owl:Class HGNC:7488 biolink:NamedThing MT-TI tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:48 biolink:NamedThing ABCB7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004845 biolink:NamedThing aphthous stomatitis A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. tmpak2llvmy_mondo_relaxed.owl oral aphthae|aphtha|aphthous ulceration|canker sore|oral aphthous ulcer|oral ulcer ICD9:528.2|GARD:0005834|DOID:9663 https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis owl:Class GO:0051239 biolink:NamedThing regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6502 biolink:NamedThing RPSA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017397 biolink:NamedThing constitutional dyserythropoietic anemia tmpak2llvmy_mondo_relaxed.owl Orphanet:293830|ICD10:D64.4 owl:Class CL:0007009 biolink:NamedThing prechondroblast Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. tmpak2llvmy_mondo_relaxed.owl haendel 2012-06-27T10:44:01Z cell owl:Class MONDO:0002343 biolink:NamedThing splenic hemangioma A hemangioma arising from the spleen. tmpak2llvmy_mondo_relaxed.owl splenic angioma|angioma of the spleen|splenic hemangioma|angioma of spleen|spleen hemangioma|hemangioma of the spleen|hemangioma of spleen|spleen angioma SCTID:93472004|DOID:256|NCIT:C8541|UMLS:C0685201 owl:Class MONDO:0021679 biolink:NamedThing gram-positive bacterial infections Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. tmpak2llvmy_mondo_relaxed.owl infections, Gram Positive bacterial|bacterial infections, Gram Positive|infection, Gram-positive bacterial|bacterial infection, Gram-positive|bacterial infections, Gram-positive|Gram-positive bacterial infection|Gram Positive bacterial infections|infections, Gram-positive bacterial MESH:D016908|ICD9:041.89|SCTID:371582002 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class HP:0000610 biolink:NamedThing Abnormal choroid morphology Any structural abnormality of the choroid. tmpak2llvmy_mondo_relaxed.owl Choroid disease|Abnormality of the choroid UMLS:C4025836|MSH:D015862|UMLS:C0008521 HP:0001122 human_phenotype owl:Class MONDO:0000383 biolink:NamedThing benign reproductive system neoplasm A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. tmpak2llvmy_mondo_relaxed.owl reproductive organ benign neoplasm|benign reproductive system neoplasm DOID:0050622|UMLS:C1332536|NCIT:C7617 owl:Class HGNC:8109 biolink:NamedThing ODC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8925 biolink:NamedThing PHKA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011863 biolink:NamedThing bone collagen fibril The connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011860 biolink:NamedThing collection of collagen fibrils tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032386 biolink:NamedThing regulation of intracellular transport Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012452 biolink:NamedThing autosomal recessive nonsyndromic deafness 65 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. tmpak2llvmy_mondo_relaxed.owl DFNB65|autosomal recessive deafness 65|deafness, autosomal recessive 65|autosomal recessive nonsyndromic deafness type 65 MESH:C565211|DOID:0110516|ICD10:H90.3|OMIM:610248|UMLS:C1853248 owl:Class HP:0000953 biolink:NamedThing Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. tmpak2llvmy_mondo_relaxed.owl Skin hyperpigmentation|Patchy darkened skin|Melanodermia|Cutaneous hyperpigmentation|Increased skin pigmentation|Hyperpigmented lesion|Melanoderma MSH:D017495|UMLS:C0162834|SNOMEDCT_US:49765009|SNOMEDCT_US:4830009 HP:0007527 human_phenotype owl:Class HP:0001000 biolink:NamedThing Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. tmpak2llvmy_mondo_relaxed.owl Abnormal pigmentation|Abnormality of pigmentation|Abnormal skin colour|Abnormality of skin pigmentation|Abnormal skin color|Pigmentary changes|Pigmentation anomaly|Pigmentary skin changes|Abnormal skin pigmentation UMLS:C1260926 HP:0200045|HP:0007582 human_phenotype owl:Class MONDO:0008243 biolink:NamedThing Pick disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. tmpak2llvmy_mondo_relaxed.owl PICK disease of brain|lobar atrophy of brain|lobar atrophy of the brain|Pick disease of the brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions|Pick disease|dementia in Pick's disease|Pick's disease GARD:0007392|UMLS:C0236642|ICD9:331.11|EFO:0003096|ICD10:G31.01|DOID:11870|OMIM:172700|SCTID:13092008|NCIT:C85008|MESH:D020774 owl:Class MONDO:0043875 biolink:NamedThing tumor lysis syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. tmpak2llvmy_mondo_relaxed.owl syndromes, tumour lysis|tumour lysis syndromes|syndrome, tumor lysis|syndrome, tumour lysis|tumor lysis syndromes|tumour lysis syndrome|tumor lysis syndrome|syndromes, tumor lysis NCIT:C3425|UMLS:C0041364|SCTID:277605001|EFO:1001479|MESH:D015275 owl:Class MONDO:0021058 biolink:NamedThing neoplastic syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. tmpak2llvmy_mondo_relaxed.owl neoplastic syndrome|tumor syndrome|cancer-related syndrome NCIT:C54705 owl:Class MONDO:0007228 biolink:NamedThing brachymesomelia-renal syndrome tmpak2llvmy_mondo_relaxed.owl brachymesomelia-renal syndrome|brachymesomelia renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities OMIM:113470|GARD:0000988|UMLS:C1862084|MESH:C537096 owl:Class MONDO:0022557 biolink:NamedThing behrens baumann dust syndrome tmpak2llvmy_mondo_relaxed.owl oculo-cerebral dysplasia MESH:C537670 owl:Class MONDO:0002427 biolink:NamedThing cerebellar disease Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. tmpak2llvmy_mondo_relaxed.owl disease or disorder of cerebellum|disorder of cerebellum|cerebellum disease|disease of cerebellum|cerebellum disease or disorder UMLS:C0007760|MESH:D002526|DOID:2786|SCTID:223176004 owl:Class MONDO:0019550 biolink:NamedThing hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. tmpak2llvmy_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy|HMSN with acrodystrophy|AR-CMT2 with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy ICD10:G60.0|Orphanet:90119|UMLS:CN206379 owl:Class UBERON:0008339 biolink:NamedThing microvascular endothelium tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004852 biolink:NamedThing cardiovascular system endothelium An endothelium that is part of the cardiovascular system. tmpak2llvmy_mondo_relaxed.owl vascular endothelia|endothelia owl:Class GO:0001503 biolink:NamedThing ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpak2llvmy_mondo_relaxed.owl bone formation|osteogenesis|bone biosynthesis owl:Class MONDO:0018706 biolink:NamedThing syndromic sensorineural deafness due to combined oxidative phosphorylation defect tmpak2llvmy_mondo_relaxed.owl syndromic sensorineural hearing loss due to COXPD|syndromic sensorineural deafness due to COXPD ICD10:G31.8|Orphanet:457223|UMLS:CN242144 owl:Class MONDO:0012240 biolink:NamedThing nemaline myopathy 4 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. tmpak2llvmy_mondo_relaxed.owl Cap myopathy 2|TPM2 nemaline myopathy|nemaline myopathy caused by mutation in TPM2|NEM4|nemaline myopathy type 4|nemaline myopathy 4, autosomal dominant|nemaline myopathy 4 DOID:0110932|MESH:C538351|OMIM:609285|UMLS:C1836447 owl:Class MONDO:0100196 biolink:NamedThing TPM2-related myopathy A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. tmpak2llvmy_mondo_relaxed.owl TPM2-related myopathy|autosomal dominant TPM2-related myopathy|TPM2 myopathy|congenital myopathy related to TPM2 The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0006008 biolink:NamedThing vestibular neuronitis Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) tmpak2llvmy_mondo_relaxed.owl vestibular neuritis|epidemic neurolabyrinthitis ICD9:386.12|EFO:0007537|ICD10:H81.20|MESH:D020338|ICD10:A88.1|UMLS:C0751908|ICD10:H81.2|SCTID:186738001|ICD9:078.81|DOID:12683 owl:Class UBERON:0002209 biolink:NamedThing fibrous joint Nonsynovial joint in which the articulating bones or cartilages are connected by ligaments. Examples: sagittal suture, inferior tibiofibular syndesmosis, gomphosis.[FMA] tmpak2llvmy_mondo_relaxed.owl junctura fibrosa|articulatio fibrosa owl:Class MONDO:0008116 biolink:NamedThing oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, oculopharyngeal|OPMD|oculopharyngeal muscular dystrophy GARD:0007245|Orphanet:270|DOID:11719|SCTID:77097004|NCIT:C84942|MESH:D039141|UMLS:C0270952|MedDRA:10052181|ICD10:G71.0|OMIM:164300 https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy owl:Class MONDO:0012295 biolink:NamedThing complement component 5 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. tmpak2llvmy_mondo_relaxed.owl C5 deficiency|complement component 5 deficiency|dysfunction of the fifth component of complement (C5)|C5D|C5 complement deficiency|complement deficiency caused by mutation in C5 UMLS:C0343047|NCIT:C9469|OMIM:609536|GARD:0006878|DOID:8158 owl:Class MONDO:0000015 biolink:NamedThing classic complement early component deficiency A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. tmpak2llvmy_mondo_relaxed.owl genetic deficiency of early component of the classical complement pathway GARD:0009526|ICD9:279.8|UMLS:C1285186|SCTID:363009005 https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency owl:Class MONDO:0002261 biolink:NamedThing keratopathy Any disorder of the cornea. tmpak2llvmy_mondo_relaxed.owl NCIT:C27012|DOID:2283|UMLS:C0235270 owl:Class HGNC:24212 biolink:NamedThing CISD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004445 biolink:NamedThing bladder papillary clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. tmpak2llvmy_mondo_relaxed.owl bladder papillary clear cell adenocarcinoma UMLS:C1511196|NCIT:C39848|DOID:8051 owl:Class UBERON:0001366 biolink:NamedThing parietal peritoneum The outer layer of peritoneum that is attached to the abdominal and pelvic walls. tmpak2llvmy_mondo_relaxed.owl parietal serous membrane of peritoneum|peritoneal cavity lining owl:Class UBERON:0022351 biolink:NamedThing parietal serous membrane Serous membrane layer that lines to a body cavity. tmpak2llvmy_mondo_relaxed.owl parietal wall of serous membrane|cavity lining owl:Class MONDO:0017034 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood tmpak2llvmy_mondo_relaxed.owl secondary ILD in childhood and adulthood UMLS:CN202346|Orphanet:264944 owl:Class MONDO:0017030 biolink:NamedThing interstitial lung disease in childhood and adulthood tmpak2llvmy_mondo_relaxed.owl ILD in childhood and adulthood Orphanet:264757|UMLS:CN202341 owl:Class MONDO:0043191 biolink:NamedThing radial defect robin sequence tmpak2llvmy_mondo_relaxed.owl bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce Winship syndrome|bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome MESH:C536261|GARD:0004624|UMLS:C2931143 owl:Class MONDO:0009869 biolink:NamedThing isolated Pierre-Robin syndrome Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. tmpak2llvmy_mondo_relaxed.owl Pierre Robin syndrome|isolated Pierre Robin syndrome|syndrome, Pierre Robin|Pierre Robin syndrome skeletal dysplasia polydactyly|Pierre-Robin syndrome|sequence, Robin|Robin syndrome, Pierre|syndrome, Pierre-Robin|Robin sequence|Pierre Robin sequence|Pierre Robin's sequence|PRBNS|sequence, Pierre Robin|isolated Pierre Robin sequence|glossoptosis, micrognathia, and cleft palate|isolated Pierre-Robin syndrome|Pierre Robins sequence|sequence, Pierre Robin's Orphanet:718|NCIT:C85010|SCTID:4602007|OMIM:261800|GARD:0004354|ICD10:Q87.0|GARD:0004347|MESH:D010855 owl:Class MONDO:0005603 biolink:NamedThing pancreatic tubular adenocarcinoma A tubular adenocarcinoma that involves the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas tubular adenocarcinoma EFO:0006471 owl:Class MONDO:0005606 biolink:NamedThing tubular adenocarcinoma An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma, tubular cell, malignant|tubular adenocarcinoma (morphologic abnormality)|tubular carcinoma|tubular adenocarcinoma DOID:4929|ICDO:8211/3|EFO:0006500|NCIT:C65192|UMLS:C0205645 owl:Class MONDO:0018086 biolink:NamedThing ulerythema ophryogenesis Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. tmpak2llvmy_mondo_relaxed.owl type of genodermatosis|keratosis pilaris affecting the follicles of the eyebrow hairs Orphanet:3406|GARD:0005395 https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis owl:Class MONDO:0018855 biolink:NamedThing keratosis pilaris atrophicans An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair. tmpak2llvmy_mondo_relaxed.owl Atrophodermia reticulata|Atrophodermia reticulata symmetrica faciei|Atrophodermia vermiculata|KPA|keratosis pilaris atrophicans facies|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenes|folliculitis ulerythematosa|keratosis pilaris atrophicans|honeycomb atrophy|keratosis pilaris|ulerythema ophryogenesis|ulerythema ophryogenes with multiple congenital anomalies|folliculitis ulerythematosa reticulata|burnett Schwartz Berberian syndrome ICD9:757.39|ICD10:L85.8|OMIM:604093|GARD:0001042|MESH:C537412|SCTID:400059005|Orphanet:498 https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome owl:Class GO:0042611 biolink:NamedThing MHC protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000211 biolink:NamedThing striatal degeneration, autosomal dominant An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. tmpak2llvmy_mondo_relaxed.owl autosomal dominant striatal neurodegeneration|ADSD UMLS:C1836694|MESH:C563783|Orphanet:228169|OMIMPS:609161 See genetic heterogeneity of OMIM 609161 smb. owl:Class MONDO:0003122 biolink:NamedThing striatonigral degeneration A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. tmpak2llvmy_mondo_relaxed.owl DOID:4751|OMIMPS:271930|NCIT:C125695|ICD9:333.0|SCTID:29618004|UMLS:C0270733|ICD10:G23.2|MESH:D020955 owl:Class MONDO:0004833 biolink:NamedThing plantar fasciitis Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. tmpak2llvmy_mondo_relaxed.owl SCTID:202882003|ICD10:M72.2|UMLS:C0149756|MESH:D036981|DOID:9600|EFO:1001909 owl:Class HP:0008047 biolink:NamedThing Abnormality of the vasculature of the eye tmpak2llvmy_mondo_relaxed.owl Abnormality of eye blood vessels UMLS:C4024752 peter 2008-04-02T12:10:00Z human_phenotype owl:Class MONDO:0025513 biolink:NamedThing autoimmune urticaria An autoimmune form of urticaria (disease). tmpak2llvmy_mondo_relaxed.owl autoimmune urticaria (disease)|autoimmune urticaria ICD9:708.8|UMLS:C1304191|SCTID:402397006 owl:Class GO:0030219 biolink:NamedThing megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. tmpak2llvmy_mondo_relaxed.owl megakaryocyte cell differentiation owl:Class MONDO:0010961 biolink:NamedThing obesity due to prohormone convertase I deficiency Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. tmpak2llvmy_mondo_relaxed.owl obesity and endocrinopathy due to impaired processing of prohormones|proprotein convertase 1/3 deficiency|PCI deficiency DOID:0111698|MESH:C563423|OMIM:600955|ICD10:E66.8|SCTID:722053001|UMLS:C4302878|UMLS:C1833053|Orphanet:71528 owl:Class MONDO:0016553 biolink:NamedThing isolated congenital hypogonadotropic hypogonadism A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic congenital hypogonadotropic hypogonadism Orphanet:238666|ICD10:E23.0|UMLS:CN924907 owl:Class CL:0000347 biolink:NamedThing scleral cell A cell of the sclera of the eye. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0011756 biolink:NamedThing male genital swelling A genital swelling that is part of a male reproductive organ. tmpak2llvmy_mondo_relaxed.owl scrotal primordium|labioscrotal swelling of male|scrotal bulge owl:Class UBERON:0011754 biolink:NamedThing genital swelling Paired structures in the embryo that represent the final stage of development of the caudal end of the external genitals before sexual differentiation. In both males and females the two swellings merge: in the female, they become the posterior labial commissure; In the male, they become the scrotum tmpak2llvmy_mondo_relaxed.owl labioscrotal swelling|tuberculum labioscrotale owl:Class MONDO:0001844 biolink:NamedThing uterine corpus myxoid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. tmpak2llvmy_mondo_relaxed.owl NCIT:C40166|UMLS:C1519860|DOID:13956 owl:Class MONDO:0032867 biolink:NamedThing pancreatic cancer, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl PNCA5|PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 OMIM:618680 owl:Class GO:0106119 biolink:NamedThing negative regulation of sterol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013722 biolink:NamedThing hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. tmpak2llvmy_mondo_relaxed.owl HLD8|leukodystrophy caused by mutation in POLR3B|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|POLR3B leukodystrophy OMIM:614381|ICD10:G11.1|DOID:0060797|UMLS:C3280644 owl:Class MONDO:0019505 biolink:NamedThing hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. tmpak2llvmy_mondo_relaxed.owl 4H syndrome UMLS:CN206304|Orphanet:88637|ICD10:G11.1 owl:Class MONDO:0007884 biolink:NamedThing leg ulcers, familial, of juvenile onset tmpak2llvmy_mondo_relaxed.owl leg ulcers, familial, of juvenile onset OMIM:150590|UMLS:C1835489|MESH:C563632 owl:Class GO:0045931 biolink:NamedThing positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. tmpak2llvmy_mondo_relaxed.owl upregulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|up regulation of progression through mitotic cell cycle|stimulation of progression through mitotic cell cycle|activation of progression through mitotic cell cycle owl:Class GO:0045787 biolink:NamedThing positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle. tmpak2llvmy_mondo_relaxed.owl up-regulation of progression through cell cycle|positive regulation of cell cycle progression|positive regulation of progression through cell cycle|stimulation of progression through cell cycle|activation of progression through cell cycle|up regulation of progression through cell cycle|upregulation of progression through cell cycle owl:Class GO:0010894 biolink:NamedThing negative regulation of steroid biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001811 biolink:NamedThing negative regulation of type I hypersensitivity Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl down-regulation of type I hypersensitivity|down regulation of type I hypersensitivity|inhibition of type I hypersensitivity|downregulation of type I hypersensitivity owl:Class MONDO:0002383 biolink:NamedThing Pacinian tumor A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. tmpak2llvmy_mondo_relaxed.owl Pacinian neurofibroma|Pacinian tumor (morphologic abnormality) ICDO:9507/0|DOID:2669|NCIT:C4328|SCTID:404033003|UMLS:C0334599|ICD9:215.9 owl:Class HGNC:32700 biolink:NamedThing CCDC103 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8820 biolink:NamedThing PDYN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023541 biolink:NamedThing Kasznica-Carlson-Coppedge syndrome tmpak2llvmy_mondo_relaxed.owl Kasznica Carlson Coppedge syndrome|ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy GARD:0003080|MESH:C537011|UMLS:C2931393 https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome owl:Class CHEBI:48219 biolink:NamedThing disinfectant An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity. tmpak2llvmy_mondo_relaxed.owl disinfecting agent|disinfectants|desinfectant|Desinfektionsmittel owl:Class MONDO:0009680 biolink:NamedThing congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Bassoe syndrome|familial congenital muscular dystrophy with gonadal dysgenesis|muscular dystrophy, congenital, with infantile cataract and hypogonadism|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|muscular dystrophy, congenital, infantile with cataract and hypogonadism OMIM:254000|UMLS:C2931578|GARD:0003842|UMLS:C1850864|GARD:0000835|Orphanet:1875 owl:Class CHEBI:16277 biolink:NamedThing haloacetic acid A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019980 biolink:NamedThing renal hypoplasia, bilateral Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. tmpak2llvmy_mondo_relaxed.owl ICD10:Q60.4|SCTID:268232000|Orphanet:97362 owl:Class MONDO:0019637 biolink:NamedThing renal hypoplasia Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. tmpak2llvmy_mondo_relaxed.owl renal hypoplasia (disease)|renal hypoplasia renal hypoplasia (disease) Orphanet:93101|ICD10:Q60.3|ICD10:Q60.5|SCTID:32659003|DOID:0080204|MedDRA:10049102|ICD10:Q60.4|HP:0000089 owl:Class MONDO:0017547 biolink:NamedThing congenital vertical talus, bilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295203|ICD10:Q66.8 owl:Class MONDO:0008652 biolink:NamedThing congenital vertical talus Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. tmpak2llvmy_mondo_relaxed.owl congenital convex foot|congenital rocker-bottom foot|vertical talus, congenital|congenital convex pes valgus|CVT|rocker-bottom foot|vertical talus|pes valgus, congenital convex|rocker-bottom foot deformity|rocker bottom foot ICD9:755.67|MedDRA:10066242|ICD10:Q66.8|DOID:0111568|Orphanet:178382|GARD:0005488|MESH:C536345|OMIM:192950|SCTID:205082007 https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus owl:Class MONDO:0007846 biolink:NamedThing KBG syndrome KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. tmpak2llvmy_mondo_relaxed.owl short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|KBG syndrome|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|KBGS|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies MESH:C537015|SCTID:711156009|OMIM:148050|GARD:0000082|ICD9:759.89|DOID:14780|ICD10:Q87.8|UMLS:C0220687|Orphanet:2332 https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome owl:Class MONDO:0001894 biolink:NamedThing spinal cord sarcoma A sarcoma that arises from the spinal cord. tmpak2llvmy_mondo_relaxed.owl sarcoma of the spinal cord|sarcoma of spinal cord|spinal cord sarcoma DOID:14152|NCIT:C5152|UMLS:C1336049 owl:Class MONDO:0013786 biolink:NamedThing cone-rod dystrophy 16 Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 16|retinitis pigmentosa 64|retinal dystrophy with early macular involvement|cone-rod dystrophy 16|cone-rod dystrophy caused by mutation in C8orf37|C8orf37 cone-rod dystrophy|CORD16 DOID:0111022|UMLS:C3281045|OMIM:614500 owl:Class MONDO:0019774 biolink:NamedThing Holmes-Gang syndrome Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl UMLS:CN206715|Orphanet:93970|ICD10:Q87.0 Editor note: check GARD assignment owl:Class MONDO:0014576 biolink:NamedThing lipoyl transferase 1 deficiency tmpak2llvmy_mondo_relaxed.owl LIPT1D|lipoyltransferase 1 deficiency Orphanet:401862|UMLS:C4225379|OMIM:616299|ICD10:E88.8 owl:Class MONDO:0018424 biolink:NamedThing inherited lipoic acid biosynthesis defect An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of lipoate biosynthetic process|lipoic acid biosynthesis defects|inborn error of lipoate biosynthetic process|lipoate biosynthesis defect|inborn lipoate biosynthetic process disorder|lipoic acid biosynthesis defect GARD:0012679|ICD10:E88.8|Orphanet:401854 owl:Class GO:1901019 biolink:NamedThing regulation of calcium ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024318 biolink:NamedThing viral infection of central nervous system tmpak2llvmy_mondo_relaxed.owl viral disease of central nervous system|viral infection of central nervous system|central nervous system viral infection UMLS:C0348165|ICD10:A80.A89|MESH:D020805|SCTID:302810003 owl:Class MONDO:0013743 biolink:NamedThing autosomal systemic lupus erythematosus type 16 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. tmpak2llvmy_mondo_relaxed.owl familial SLE|autosomal SLE|familial systemic lupus erythematosus|systemic lupus erythematosus type 16|systemic lupus erythematosus 16|SLEB16 OMIM:614420|ICD10:M32.8|UMLS:C3280742|Orphanet:300345 Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 owl:Class MONDO:0010781 biolink:NamedThing ataxia and polyneuropathy, adult-onset tmpak2llvmy_mondo_relaxed.owl OMIM:500010|UMLS:C1838916|MESH:C564020|DOID:0111750 owl:Class GO:2000215 biolink:NamedThing negative regulation of proline metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of proline metabolism owl:Class GO:2000214 biolink:NamedThing regulation of proline metabolic process Any process that modulates the frequency, rate or extent of proline metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of proline metabolism owl:Class HGNC:9820 biolink:NamedThing RAD51C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003923 biolink:NamedThing ethmoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpak2llvmy_mondo_relaxed.owl Schneiderian papilloma of ethmoid sinus|Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma UMLS:C1333476|NCIT:C6836|DOID:6559 owl:Class MONDO:0005195 biolink:NamedThing septic peritonitis Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. tmpak2llvmy_mondo_relaxed.owl EFO:0002623|Wikipedia:Septic_peritonitis|PMID:22911262 owl:Class MONDO:0000584 biolink:NamedThing B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. tmpak2llvmy_mondo_relaxed.owl BLNK deficiency|B-cell linker protein deficiency DOID:0060027 owl:Class HGNC:1391 biolink:NamedThing CACNA1D tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005901 biolink:NamedThing caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. tmpak2llvmy_mondo_relaxed.owl caveolar membrane|caveolae owl:Class GO:0044853 biolink:NamedThing plasma membrane raft A membrane raft that is part of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007779 biolink:NamedThing transudate Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces tmpak2llvmy_mondo_relaxed.owl plasma ultrafiltrate owl:Class MONDO:0012396 biolink:NamedThing exercise-induced hyperinsulinism Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. tmpak2llvmy_mondo_relaxed.owl hyperinsulinism due to SLC16A1 deficiency|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinemic hypoglycemia exercise-induced|hyperinsulinism due to monocarboxylate transporter 1 deficiency|hyperinsulinemic hypoglycemia, familial, 7|HHF7|hyperinsulinemic hypoglycemia, exercise-induced|EIHI|MCT1 hyperinsulinism|exercise induced hyperinsulinemic hypoglycemia|exercise-induced hyperinsulinemic hypoglycemia|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 7 UMLS:C1864902|GARD:0009932|OMIM:610021|NCIT:C131839|SCTID:715830008|Orphanet:165991|MESH:C538376|UMLS:C1864904|ICD10:E16.1|DOID:0070214 owl:Class MONDO:0017706 biolink:NamedThing disorder of carbohydrate absorption and transport tmpak2llvmy_mondo_relaxed.owl Orphanet:309001|UMLS:CN227180 owl:Class GO:0099643 biolink:NamedThing signal release from synapse Any signal release from a synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019703 biolink:NamedThing primary bone dysplasia with increased bone density tmpak2llvmy_mondo_relaxed.owl sclerosing bone dysplasia|primary osteodysplasia with increased bone density|primary skeletal dysplasia with increased bone density 2022-01-01 Orphanet:93444|UMLS:CN043667 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0017569 biolink:NamedThing de Barsy syndrome A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. tmpak2llvmy_mondo_relaxed.owl cutis laxa-corneal clouding-intellectual disability syndrome|progeroid syndrome of de Barsy|autosomal recessive cutis laxa type III|De Barsy syndrome|progeroid syndrome, De Barsy type|corneal clouding, cutis laxa and intellectual disability|progeroid syndrome, de Barsy type|corneal clouding, cutis laxa and mental retardation|cutis laxa growth deficiency syndrome PMID:18388779|GARD:0000049|Orphanet:2962|MESH:C535990|SCTID:238826008|GARD:49|ICD10:Q87.8|DOID:0070143 owl:Class MONDO:0006940 biolink:NamedThing radial nerve lesion A peripheral nerve lesion that involves the radial nerve. tmpak2llvmy_mondo_relaxed.owl lesion of radial nerve|peripheral nerve lesion of radial nerve|radial nerve peripheral nerve lesion|radial nerve lesions SCTID:193137006|ICD9:354.3|DOID:12170|ICD10:G56.3|UMLS:C0154744|EFO:1001143|ICD10:G56.30|MedDRA:10061477 owl:Class MONDO:0024334 biolink:NamedThing peripheral nerve lesion tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005879 biolink:NamedThing ocular toxoplasmosis Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. tmpak2llvmy_mondo_relaxed.owl EFO:0007399|GARD:0007238|ICD9:130.7|UMLS:C0040561|MESH:D014126|SCTID:416481006 https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis owl:Class MONDO:0008426 biolink:NamedThing Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl Marfanoid-craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|Marfanoid disorder with craniosynostosis, type 1|Marfanoid craniosynostosis syndrome|Shprintzen-Goldberg craniosynostosis syndrome|Marfanoid disorder with craniosynostosis type 1|SGS|Shprintzen-Goldberg syndrome|Shprintzen-Goldberg marfanoid syndrome OMIM:182212|SCTID:719069008|UMLS:C1321551|NCIT:C124840|Orphanet:2462|ICD10:Q87.8|GARD:0004861 owl:Class HGNC:30836 biolink:NamedThing POC1B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11592 biolink:NamedThing TBX1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002791 biolink:NamedThing regulation of peptide secretion Any process that modulates the frequency, rate, or extent of peptide secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33704 biolink:NamedThing alpha-amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. tmpak2llvmy_mondo_relaxed.owl alpha-amino carboxylic acids|alpha-amino acids|Amino acids|alpha-amino acid|Amino acid owl:Class CHEBI:33709 biolink:NamedThing amino acid A carboxylic acid containing one or more amino groups. tmpak2llvmy_mondo_relaxed.owl Aminocarbonsaeure|Aminosaeure|amino acids|Aminokarbonsaeure owl:Class MONDO:0001123 biolink:NamedThing chronic sphenoidal sinusitis Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpak2llvmy_mondo_relaxed.owl chronic sphenoid sinusitis|sphenoidal sinus-chr.|sphenoid sinusitis, chronic NCIT:C34480|DOID:10793|ICD9:473.3|UMLS:C0008712|SCTID:38961000|ICD10:J32.3 owl:Class MONDO:0005964 biolink:NamedThing sphenoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. tmpak2llvmy_mondo_relaxed.owl sinusitis of sphenoid bone|sphenoidal sinusitis|sphenoid bone sinusitis ICD10:J32.3|UMLS:C0037886|MESH:D015524|NCIT:C35031|EFO:0007489|DOID:10794|SCTID:13266007 owl:Class MONDO:0014521 biolink:NamedThing progressive myoclonic epilepsy type 7 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene. tmpak2llvmy_mondo_relaxed.owl KCNC1 progressive myoclonic epilepsy|EPM7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonus epilepsy type 7|progressive myoclonic epilepsy caused by mutation in KCNC1|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|epilepsy, progressive myoclonic type 7|PME type 7 UMLS:C4015420|ICD10:G40.3|Orphanet:435438|NCIT:C142804|OMIM:616187|DOID:0111447 owl:Class HGNC:20197 biolink:NamedThing SLC35C1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002277 biolink:NamedThing myeloid dendritic cell activation involved in immune response The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl myeloid dendritic cell activation during immune response owl:Class GO:0016832 biolink:NamedThing aldehyde-lyase activity Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. tmpak2llvmy_mondo_relaxed.owl aldolase activity owl:Class GO:0016830 biolink:NamedThing carbon-carbon lyase activity Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpak2llvmy_mondo_relaxed.owl other carbon-carbon lyase activity owl:Class MONDO:0000946 biolink:NamedThing psychologic vaginismus Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. tmpak2llvmy_mondo_relaxed.owl functional vaginismus|psychogenic vaginismus|non-organic vaginismus ICD10:F52.5|SCTID:71787009|DOID:10131|ICD9:306.51 owl:Class GO:1905706 biolink:NamedThing regulation of mitochondrial ATP synthesis coupled proton transport Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010155 biolink:NamedThing regulation of proton transport Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000000 biolink:NamedThing epidermal melanocyte Any melanocyte that is part of a epidermis. tmpak2llvmy_mondo_relaxed.owl These cells are found primarily, but not exclusively, in primates including humans TermGenie 2014-02-03T23:03:09Z cell owl:Class CL:0002484 biolink:NamedThing epithelial melanocyte A melanocyte that produces pigment in the epithelium. tmpak2llvmy_mondo_relaxed.owl The text defintion reference to the MP term appears to reference an epidermal melanocyte term. This term represents any melanocyte in any epithelium. tmeehan 2010-12-03T03:17:14Z cell owl:Class MONDO:0003645 biolink:NamedThing cavernous hemangioma of face A cavernous hemangioma arising from the face. tmpak2llvmy_mondo_relaxed.owl face cavernous hemangioma|cavernous hemangioma of the Face|cavernous hemangioma of face EFO:1000152|DOID:5776|HP:0007486|NCIT:C7053|UMLS:C1332863 MONDO:0006125 owl:Class HGNC:18871 biolink:NamedThing MMAA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010592 biolink:NamedThing focal dermal hypoplasia Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. tmpak2llvmy_mondo_relaxed.owl Goltz syndrome|FDH|Goltz-Gorlin syndrome|Fodh|Goltz Gorlin syndrome|focal dermal hypoplasia|DHOF MESH:D005489|ICD10:Q82.8|OMIM:305600|UMLS:C0016395|DOID:2120|GARD:0006457|SCTID:205573006|NCIT:C84715|Orphanet:2092|ICD9:757.39 owl:Class MONDO:0004513 biolink:NamedThing adult pleomorphic rhabdomyosarcoma An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. tmpak2llvmy_mondo_relaxed.owl adult pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of adults UMLS:C1332211|DOID:8251|NCIT:C27369|ICDO:8901/3 owl:Class MONDO:0006705 biolink:NamedThing Bacteroidaceae infectious disease Infections with bacteria of the family BACTEROIDACEAE. tmpak2llvmy_mondo_relaxed.owl infections, Bacteroidaceae|Bacteroidaceae disease or disorder|Bacteroidaceae infection|infection, Bacteroidaceae|Bacteroidaceae caused disease or disorder MESH:D016866|UMLS:C0085392|EFO:1000872 owl:Class MONDO:0007646 biolink:NamedThing Gamstorp-Wohlfart syndrome Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. tmpak2llvmy_mondo_relaxed.owl myokymia, myotonia and muscle wasting|ARAN-NM|neuromyotonia and axonal neuropathy, autosomal recessive|ARCMT2-NM|Gamstorp-Wohlfart syndrome|autosomal recessive neuromyotonia and axonal neuropathy|myokymia, myotonia, and muscle wasting|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|NMAN|autosomal recessive axonal neuropathy with neuromyotonia DOID:0050526|Orphanet:324442|GARD:0012353|SCTID:711406009|UMLS:CN074193|ICD10:G60.0|OMIM:137200 owl:Class NCBITaxon:5809 biolink:NamedThing Sarcocystidae tmpak2llvmy_mondo_relaxed.owl Sarcocystids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:423054 biolink:NamedThing Eimeriorina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:10982 biolink:NamedThing SLC25A12 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14540 biolink:NamedThing WNK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015261 biolink:NamedThing pseudopelade of Brocq Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. tmpak2llvmy_mondo_relaxed.owl Brocq pseudopelade|pseudo pelade of Brocq|pseudo-pelade of Brocq Orphanet:129|ICD9:704.09|GARD:0004536|SCTID:238731001|ICD10:L66.0 https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq owl:Class UBERON:0011892 biolink:NamedThing anterior uvea Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. tmpak2llvmy_mondo_relaxed.owl anterior vascular tunic of the eye|ciliary body and iris|vasculosa oculi|tunica vasculosa bulbosa|anterior vascular layer of the eyeball|Haller tunica vascula|ventral uveal tract|anterior uveal tract|anterior part of uveal tract owl:Class MONDO:0020469 biolink:NamedThing 48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. tmpak2llvmy_mondo_relaxed.owl 48,XYYY ICD10:Q98.8|UMLS:C4518082|UMLS:CN207331|SCTID:733625003|Orphanet:99329|GARD:0011985 owl:Class MONDO:0044647 biolink:NamedThing kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:496686 owl:Class UBERON:0003397 biolink:NamedThing mesentery of duodenum A mesentery that is part of a duodenum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl duodenum mesentery owl:Class MONDO:0016000 biolink:NamedThing familial isolated hypoparathyroidism due to impaired PTH secretion tmpak2llvmy_mondo_relaxed.owl UMLS:CN200646|ICD10:E20.8|Orphanet:189466 owl:Class MONDO:0007796 biolink:NamedThing hypoparathyroidism, familial isolated 1 tmpak2llvmy_mondo_relaxed.owl hypoparathyroidism familial isolated|hypoparathyroidism, familial isolated 1|hypoparathyroidism, autosomal recessive|hypoparathyroidism, familial isolated|FIH1|FIH|hypoparathyroidism, autosomal dominant SCTID:237657009|OMIM:146200 owl:Class UBERON:0001771 biolink:NamedThing pupil the central circular aperture of the iris through which light rays enter the eye tmpak2llvmy_mondo_relaxed.owl pupils owl:Class HGNC:6610 biolink:NamedThing LIM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010532 biolink:NamedThing infantile-onset X-linked spinal muscular atrophy A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy, infantile X-linked|arthrogryposis, X-linked, type 1|arthrogryposis multiplex congenita, distal, X-linked|AMC, distal, X-linked|X-linked spinal muscular atrophy type 2|X-linked distal arthrogryposis multiplex congenita|SMAX2|spinal muscular atrophy, X-linked lethal infantile|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy with arthrogryposis SCTID:719836007|Orphanet:1145|OMIM:301830|UMLS:C1844934|ICD10:G12.1|GARD:0008521|MESH:C535380 owl:Class MONDO:0013077 biolink:NamedThing Santos syndrome tmpak2llvmy_mondo_relaxed.owl Santos syndrome|fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome UMLS:C2751698|MESH:C567819|OMIM:613005 owl:Class MONDO:0009623 biolink:NamedThing Nijmegen breakage syndrome Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. tmpak2llvmy_mondo_relaxed.owl AT V1|ataxia-telangiectasia variant V1|Berlin breakage syndrome|Seemanova syndrome 2|Seemanova syndrome type 2|NBs|Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|Seemanova syndrome|ataxia-telangiectasia, variant 1|microcephaly, normal intelligence and immunodeficiency|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|microcephaly immunodeficiency lymphoreticuloma|immunodeficiency-microcephaly-chromosomal instability syndrome|Nonsyndromal microcephaly autosomal recessive with normal intelligence|Nijmegen breakage syndrome|ataxia-telangiectasia variant V2|immunodeficiency, microcephaly, and chromosomal instability|microcephaly-immunodeficiency-lymphoreticuloma syndrome Orphanet:647|SCTID:234638009|MESH:D049932|GARD:0003904|UMLS:C0398791|MedDRA:10067857|ICD10:Q87.8|DOID:7400|UMLS:CN860323|OMIM:251260|NCIT:C4692 https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome owl:Class MONDO:0014593 biolink:NamedThing developmental and epileptic encephalopathy, 29 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene. tmpak2llvmy_mondo_relaxed.owl EIEE29|epileptic encephalopathy, early infantile, 29|early infantile epileptic encephalopathy caused by mutation in AARS|epileptic encephalopathy, early infantile, type 29|DEE29|AARS early infantile epileptic encephalopathy DOID:0080451|OMIM:616339|UMLS:C4225361 owl:Class MONDO:0003112 biolink:NamedThing malignant gastric germ cell tumor A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma. tmpak2llvmy_mondo_relaxed.owl malignant germ cell neoplasm of the stomach|germ cell tumor of the stomach|malignant germ cell neoplasm of stomach|malignant gastric germ cell tumor|malignant gastric germ cell neoplasm|malignant germ cell tumor of the stomach|malignant germ cell tumor of stomach UMLS:C1333769|NCIT:C5486|UMLS:C1334584|DOID:4716 owl:Class HGNC:7376 biolink:NamedThing MSR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004281 biolink:NamedThing vulvar eccrine porocarcinoma An eccrine porocarcinoma that arises from the sweat glands in the vulva. tmpak2llvmy_mondo_relaxed.owl vulvar eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|mammalian vulva eccrine porocarcinoma NCIT:C40306|UMLS:C1520081|DOID:7565 owl:Class MONDO:0006189 biolink:NamedThing eccrine porocarcinoma A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. tmpak2llvmy_mondo_relaxed.owl malignant eccrine poroma|porocarcinoma/spiroadenocarcinoma|epidermotropic eccrine carcinoma|eccrine porocarcinoma|eccrine porocarcinoma of skin|porocarcinoma UMLS:C1266065|GARD:0007431|SCTID:254708001|EFO:1000229|DOID:7566|MESH:D057090|ICDO:8409/3|NCIT:C5560|ONCOTREE:POCA https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma owl:Class MONDO:0014793 biolink:NamedThing microcephaly-congenital cataract-psoriasiform dermatitis syndrome tmpak2llvmy_mondo_relaxed.owl smo deficiency|MCCPD|microcephaly, congenital cataract, and psoriasiform dermatitis|sterol-C4-methyl oxidase deficiency|Sc4Mol deficiency Orphanet:488168|OMIM:616834|UMLS:C4225189 owl:Class MONDO:0054771 biolink:NamedThing keratoconus 9 tmpak2llvmy_mondo_relaxed.owl KTCN9|keratoconus 9 UMLS:CN244547|OMIM:617928 owl:Class HP:0000486 biolink:NamedThing Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. tmpak2llvmy_mondo_relaxed.owl Squint|Cross-eyed|Squint eyes SNOMEDCT_US:22066006|SNOMEDCT_US:128602000|MSH:D013285|UMLS:C0038379 HP:0000487 human_phenotype owl:Class HP:0000549 biolink:NamedThing Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. tmpak2llvmy_mondo_relaxed.owl Disconjugate eye movements UMLS:C1845274 human_phenotype owl:Class UBERON:0010533 biolink:NamedThing metanephros cortex The metanephric cortex is the outer region of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001225 biolink:NamedThing cortex of kidney Outer cortical portion of the kidney, between the renal capsule and the renal medulla. tmpak2llvmy_mondo_relaxed.owl kidney cortex|renal cortex|cortex renalis owl:Class HP:0000820 biolink:NamedThing Abnormality of the thyroid gland An abnormality of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl Thyroid disease|Abnormality of the thyroid gland|Thyroid abnormality SNOMEDCT_US:14304000|UMLS:C0040128|MSH:D013959 human_phenotype owl:Class NCBITaxon:5550 biolink:NamedThing Trichophyton tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34384 biolink:NamedThing Arthrodermataceae tmpak2llvmy_mondo_relaxed.owl dermatophytes|Arthrodermataceae anamorphs|anamorphic Arthrodermataceae GC_ID:1 NCBITaxon:34385 ncbi_taxonomy owl:Class MONDO:0018256 biolink:NamedThing acute myeloid leukemia with t(8;16)(p11;p13) translocation A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. tmpak2llvmy_mondo_relaxed.owl AML with t(8;16)(p11;p13) translocation UMLS:CN204831|SCTID:725390002|UMLS:C4511003|Orphanet:370026|ICD10:C92.0 owl:Class MONDO:0020078 biolink:NamedThing acute myeloid leukemia with recurrent genetic anomaly A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl AML with recurrent genetic anomaly|acute myeloid Leukemia with recurrent Genetic abnormalities|AML with recurrent Genetic abnormalities|acute myeloid Leukemia with balanced Translocations/Inversions 2022-03-01 Orphanet:98277|ONCOTREE:AMLRGA|GARD:0012758|NCIT:C7175 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acute myeloid leukemia' MONDO_0018874 https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly owl:Class MONDO:0003928 biolink:NamedThing uterine corpus myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpak2llvmy_mondo_relaxed.owl uterine corpus myxoid leiomyosarcoma|myxoid leiomyosarcoma of body of uterus|uterine myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma NCIT:C40175|UMLS:C1519861|ONCOTREE:UMLMS|DOID:6567 owl:Class MONDO:0003359 biolink:NamedThing myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpak2llvmy_mondo_relaxed.owl myxoid leiomyosarcoma|myxoid leiomyosarcoma (morphologic abnormality) ICDO:8896/3|UMLS:C0205816|NCIT:C3701|DOID:5268 owl:Class MONDO:0015131 biolink:NamedThing congenital combined immunodeficiency A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency|combined T cell and B cell immunodeficiency|X-linked combined immunodeficiency|combined T and B cell immunodeficiency|congenital combined immunodeficiency ICD10:D81.6|DOID:628|ICD10:D81.5|ICD10:D81.9|ICD9:279.2|Orphanet:101972|ICD10:D81.0|UMLS:C0494261|ICD10:D81|ICD10:D81.7|NCIT:C27871|ICD10:D81.2|ICD10:D81.3|ICD10:D81.4|ICD10:D81.8|ICD10:D81.1 owl:Class MONDO:0016922 biolink:NamedThing partial duplication of chromosome 2 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 2|partial duplication of chromosome type 2 Orphanet:262196|SCTID:726340005 owl:Class MONDO:0003189 biolink:NamedThing middle ear adenocarcinoma A carcinoma that arises from glandular epithelial cells of the middle ear tmpak2llvmy_mondo_relaxed.owl middle Ear adenocarcinoma|adenocarcinoma of middle ear|adenocarcinoma of the middle Ear|middle ear adenocarcinoma|adenocarcinoma of the middle ear|adenocarcinoma of middle Ear NCIT:C6848|UMLS:C1334758|DOID:4892 owl:Class MONDO:0003190 biolink:NamedThing middle ear carcinoma A carcinoma that arises from epithelial cells of the middle ear tmpak2llvmy_mondo_relaxed.owl carcinoma of middle ear|carcinoma of the middle Ear|carcinoma of the middle ear|carcinoma of middle Ear|middle ear carcinoma|middle Ear carcinoma DOID:4893|NCIT:C6089|UMLS:C1334760 owl:Class ECTO:9002059 biolink:NamedThing exposure to food packaging gas An exposure to food packaging gas. tmpak2llvmy_mondo_relaxed.owl exposure to food packaging gas owl:Class MONDO:0007037 biolink:NamedThing achondroplasia Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. tmpak2llvmy_mondo_relaxed.owl achondroplastic dwarfism|ach|chondrodystrophia|achondroplasia|achondroplastic physique|osteosclerosis congenita GARD:0008173|MedDRA:10000452|MESH:D000130|SCTID:86268005|ICD10:Q77.4|Orphanet:15|DOID:4480|NCIT:C34345|UMLS:C0001080|OMIM:100800 https://rarediseases.info.nih.gov/diseases/8173/achondroplasia owl:Class MONDO:0008269 biolink:NamedThing polydactyly of a biphalangeal thumb Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. tmpak2llvmy_mondo_relaxed.owl polydactyly preaxial 1|preaxial polydactyly 1|polydactyly, preaxial I|PPD1|thumb polydactyly|Fromont anomaly|polydactyly, preaxial type 1|thenar hypoplasia|polydactyly, preaxial 1|preaxial polydactyly type 1 OMIM:174400|SCTID:445216006|GARD:0004417|MESH:C536332|ICD10:Q69.1|Orphanet:93339 owl:Class MONDO:0017425 biolink:NamedThing preaxial polydactyly of fingers Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity. tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly of hand GARD:0012767|ICD10:Q69.1|OMIMPS:174400|Orphanet:294939 https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers owl:Class MONDO:0016472 biolink:NamedThing dracunculiasis Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). tmpak2llvmy_mondo_relaxed.owl Dracunculus medinensis infectious disease|Dracunculus medinensis caused disease or disorder|Dracunculosis|parasitic infection caused by Dracunculus medinensis|medinensis|Medina worm disease|Dracunculus medinensis disease or disorder|Guinea worm infection|Guinea worm disease|dracontiasis|infection by Dracunculus medinensis|GWD Orphanet:231|DOID:14418|UMLS:C0013100|SCTID:396334002|ICD10:B72|NCIT:C84677|MedDRA:10013618|EFO:0007241|GARD:0006286|MESH:D004320|ICD9:125.7 https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis owl:Class MONDO:0001128 biolink:NamedThing nasal cavity cancer A malignant neoplasm involving the nasal cavity tmpak2llvmy_mondo_relaxed.owl malignant nasal cavity tumor|malignant tumor of nasal cavity|malignant tumor of the nasal cavity|malignant nasal cavity neoplasm|malignant neoplasm of the nasal cavity|malignant neoplasm of nasal cavities|cancer of nasal cavity|nasal cavity cancer|malignant neoplasm of nasal cavity DOID:10811|ICD9:160.0|ICD10:C30.0|SCTID:363422006|UMLS:C0728864|NCIT:C4918 owl:Class MONDO:0021470 biolink:NamedThing benign neoplasm of pancreas A benign neoplasm that involves the pancreas. tmpak2llvmy_mondo_relaxed.owl benign pancreas tumor|benign tumor of pancreas|benign neoplasm of the pancreas|benign pancreatic tumor|pancreas tumor, benign|pancreatic neoplasm, benign|benign tumor of the pancreas|pancreatic tumor, benign|benign pancreas neoplasm|pancreas benign neoplasm|benign pancreatic neoplasm|pancreas neoplasm, benign UMLS:C0347284|NCIT:C4612|SCTID:92264007|ICD10:D13.6 owl:Class GO:0005604 biolink:NamedThing basement membrane A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. tmpak2llvmy_mondo_relaxed.owl lamina densa|basal lamina|basement lamina owl:Class GO:0062023 biolink:NamedThing collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021746 biolink:NamedThing pyelocystitis tmpak2llvmy_mondo_relaxed.owl Cystopyelitis|Pyelocystitis EFO:1001835|MESH:D053653|UMLS:C0034184 owl:Class MONDO:0006938 biolink:NamedThing pyelitis Inflammation of the renal pelvis. tmpak2llvmy_mondo_relaxed.owl renal pelvis inflammation|inflammation of renal pelvis NCIT:C34964|ICD10:N12|MESH:D011702|MedDRA:10037584|SCTID:27174002|DOID:2744|UMLS:C0034183|EFO:1001140 owl:Class UBERON:0014452 biolink:NamedThing gustatory epithelium of tongue A gustatory epithelium that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl lingual gustatory epithelium owl:Class MONDO:0006974 biolink:NamedThing small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. tmpak2llvmy_mondo_relaxed.owl small cell sarcoma|small cell sarcomas DOID:3098|EFO:1001184|NCIT:C3746|UMLS:C0206652|ICDO:8803/3|MESH:D018228 owl:Class MONDO:0002240 biolink:NamedThing acute perichondritis of pinna Acute form of perichondritis of auricle. tmpak2llvmy_mondo_relaxed.owl acute perichondritis of auricle|perichondritis of auricle, acute UMLS:C0155390|ICD9:380.01|DOID:221|SCTID:45855004 owl:Class MONDO:0002246 biolink:NamedThing perichondritis of auricle An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. tmpak2llvmy_mondo_relaxed.owl perichondritis and chondritis of pinna|perichondritis of pinna, unspecified|perichondritis of pinna UMLS:C0155389|ICD10:H61.009|ICD10:H61.00|DOID:222|ICD9:380.00|SCTID:34129005|ICD9:380.0|ICD10:H61.0 owl:Class MONDO:0016272 biolink:NamedThing transitional cell carcinoma of the corpus uteri A transitional cell carcinoma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma ICD10:C54.1|Orphanet:213746 owl:Class MONDO:0006474 biolink:NamedThing transitional cell carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. tmpak2llvmy_mondo_relaxed.owl transitional cell tumor|carcinoma of urothelial cell|urothelial cell carcinoma|carcinoma, urothelial, malignant|transitional cell carcinoma|transitional carcinoma|transitional cell neoplasm|carcinoma of transitional epithelial cell|transitional epithelial cell carcinoma MESH:D002295|DOID:2671|NCIT:C2930|UMLS:C0007138|ICDO:8120/3|EFO:1000601|GARD:0007794 https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma owl:Class UBERON:0010913 biolink:NamedThing vertebral element Skeletal element that forms around the notochord and is part of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebra skeletal element|vertebra endochondral element|vertebral endochondral element|vertebra element owl:Class UBERON:0005594 biolink:NamedThing head somite Somite located in the head region, caudal to the otic vesicle tmpak2llvmy_mondo_relaxed.owl occipital somite|cranial somite owl:Class MONDO:0012721 biolink:NamedThing progressive myoclonic epilepsy type 3 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. tmpak2llvmy_mondo_relaxed.owl progressive myoclonus epilepsy type 3|EPM 3|progressive myoclonic epilepsy 3|EPM3|progressive myoclonic epilepsy caused by mutation in KCTD7|KCTD7 progressive myoclonic epilepsy|progressive myoclonic epilepsy due to KCTD7 deficiency|progressive myoclonic epilepsy type 3|ceroid lipofuscinosis, neuronal, 14|epilepsy progressive myoclonic type 3|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|PME type 3 UMLS:C2673257|DOID:0111446|OMIM:611726|ICD10:G40.3|GARD:0002167|MESH:C567095|Orphanet:263516 https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 owl:Class MONDO:0005991 biolink:NamedThing trench fever An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. tmpak2llvmy_mondo_relaxed.owl shin bone fever|bartonellosis due to Bartonella quintana infection|Wolhynian fever|Bartonella quintana caused disease or disorder|trench fever|fever, trench|Bartonella quintana infectious disease|trench fevers|quintan fever|fevers, trench|His-Werner disease|tibialgic fever|Bartonella quintana disease or disorder EFO:0007519|DOID:11101|UMLS:C0040830|SCTID:82214002|MESH:D014205|MedDRA:10044582|ICD9:083.1|Orphanet:64694|ICD10:A79.0 owl:Class MONDO:0018623 biolink:NamedThing postpartum psychosis Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. tmpak2llvmy_mondo_relaxed.owl puerperal psychosis SCTID:18260003|ICD10:F53.1|ICD10:F53|ICD9:648.44|Orphanet:443173 MONDO:0024269 owl:Class HGNC:2418 biolink:NamedThing CRYM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004773 biolink:NamedThing iridocyclitis An inflammation of the iris and the ciliary body tmpak2llvmy_mondo_relaxed.owl iridocyclitis|primary iridocyclitis|iridocyclitis (disease) iridocyclitis (disease) SCTID:77971008|HP:0001094|ICD9:364.2|ICD10:H20.01|ICD9:364.3|NCIT:C34736|DOID:9383|ICD9:364.01|UMLS:C0022073 owl:Class MONDO:0006651 biolink:NamedThing anterior uveitis Inflammation of the iris and anterior chamber of the eye. tmpak2llvmy_mondo_relaxed.owl anterior uveitis|iridocyclitis|anterior uveitis (disease) anterior uveitis (disease) MedDRA:10002709|HP:0012122|MESH:D014606|NCIT:C35109|EFO:1000811|ICD10:H20.9|ICD10:H20.2|CSP:1114-9593|UMLS:C0042165|DOID:1407|ICD10:H20.0|ICD10:H20.1|ICD10:H20.8|Orphanet:280886|GARD:0010941|SCTID:410692006 owl:Class MONDO:0000379 biolink:NamedThing malignant Sertoli-Leydig cell tumor A malignant form of Sertoli-leydig cell tumor. tmpak2llvmy_mondo_relaxed.owl Sertoli-Leydig cell tumor, malignant DOID:0050618 owl:Class MONDO:0002479 biolink:NamedThing Sertoli-Leydig cell tumor A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. tmpak2llvmy_mondo_relaxed.owl GARD:0009967|MESH:D018310|ONCOTREE:SLCT|UMLS:C0206723|DOID:2997 owl:Class HGNC:33862 biolink:NamedThing GRXCR2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11161 biolink:NamedThing SNRPE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045039 biolink:NamedThing systemic basidiobolomycosis tmpak2llvmy_mondo_relaxed.owl disseminated basidiobolomycosis SCTID:240787008|UMLS:C0343967 owl:Class MONDO:0000302 biolink:NamedThing basidiobolomycosis A disease caused by infection with Basidiobolus. tmpak2llvmy_mondo_relaxed.owl infection caused by Basidiobolus|infection by Basidiobolus|Basidiobolus disease or disorder|Basidiobolus infectious disease|Basidiobolus caused disease or disorder|basidiobolomycosis UMLS:C0343965|DOID:0050278|MEDGEN:575966|SCTID:4921002 owl:Class UBERON:0006245 biolink:NamedThing humerus cartilage element A humerus endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl humeral cartilage condensation owl:Class UBERON:0015053 biolink:NamedThing humerus endochondral element A humerus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl humerus element|humerus skeletal element owl:Class HGNC:6233 biolink:NamedThing KCNC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009404 biolink:NamedThing hypertelorism, microtia, facial clefting syndrome Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. tmpak2llvmy_mondo_relaxed.owl hypertelorism, microtia, facial clefting syndrome|hypertelorism microtia facial clefting syndrome|hypertelorism-microtia-facial clefting syndrome|Bixler Christian Gorlin syndrome|Bixler syndrome|HMC syndrome|Bixler-Christian-Gorlin syndrome|hypertelorism-microtia-clefting syndrome SCTID:721836009|Orphanet:2213|ICD10:Q87.0|DOID:14670|OMIM:239800|MESH:C537632|UMLS:C0220742|GARD:0000897 owl:Class MONDO:0013322 biolink:NamedThing epilepsy, familial adult myoclonic, 3 tmpak2llvmy_mondo_relaxed.owl cortical myoclonic tremor with epilepsy, familial, 3|epilepsy, familial ADULT myoclonic, 3|FAME3 DOID:0111695|MESH:C567098|OMIM:613608|UMLS:C3150860 owl:Class MONDO:0000160 biolink:NamedThing epilepsy, familial adult myoclonic tmpak2llvmy_mondo_relaxed.owl DOID:0111689|OMIMPS:601068 owl:Class MONDO:0100342 biolink:NamedThing malignant glioma A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. tmpak2llvmy_mondo_relaxed.owl malignant neuroglial neoplasm|malignant glioma|neuroglial tumor|high grade glioma|glial cell tumor|malignant glial tumor|glioma, malignant|glioma|malignant neuroglial tumor|high-grade glioma|malignant glial neoplasm MedDRA:10018338|UMLS:C0555198|KEGG:05214|NCIT:C4822|ICDO:9380/3|DOID:3070 http://orcid.org/0000-0001-5208-3432 owl:Class CL:2000095 biolink:NamedThing cord blood hematopoietic stem cell Any hematopoietic stem cell that is part of a umbilical cord blood. tmpak2llvmy_mondo_relaxed.owl TermGenie 2015-05-26T18:58:34Z cell owl:Class CL:0000037 biolink:NamedThing hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. tmpak2llvmy_mondo_relaxed.owl hemopoietic stem cell|HSC|blood forming stem cell|colony forming unit hematopoietic CALOHA:TS-0448|FMA:70337|VHOG:0001485|FMA:86475|BTO:0000725 Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. cell owl:Class GO:0043271 biolink:NamedThing negative regulation of ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl downregulation of ion transport|down-regulation of ion transport|down regulation of ion transport|inhibition of ion transport owl:Class MONDO:0001093 biolink:NamedThing colonic lymphangioma A lymphangioma arising from the colon. tmpak2llvmy_mondo_relaxed.owl colonic lymphangioma|lymphangioma of colon|colon lymphangioma|lymphangioma of the colon DOID:10657|UMLS:C1333094|NCIT:C5500 owl:Class MONDO:0024479 biolink:NamedThing epithelial tumor of colon A epithelial neoplasm that involves the colon. tmpak2llvmy_mondo_relaxed.owl colon epithelial neoplasm owl:Class MONDO:0004822 biolink:NamedThing bronchiectasis Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. tmpak2llvmy_mondo_relaxed.owl Polynesian bronchiectasis OMIMPS:211400|DOID:9563|ICD10:J47.9|NCIT:C84475|UMLS:C0006267|ICD10:J47|ICD9:494|MESH:D001987|SCTID:12295008 owl:Class MONDO:0001358 biolink:NamedThing bronchial disease A disease involving the bronchus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of bronchus|bronchospasm|bronchial disorder|disorder of bronchus|bronchus disease or disorder|bronchus disease|disease of bronchus NCIT:C34439|SCTID:41427001|DOID:1176|UMLS:C0006261|MESH:D001982|EFO:1002018|ICD9:519.19 owl:Class HGNC:6585 biolink:NamedThing LHCGR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099523 biolink:NamedThing presynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099522 biolink:NamedThing cytosolic region Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol. tmpak2llvmy_mondo_relaxed.owl region of cytosol owl:Class MONDO:0000925 biolink:NamedThing hyperlucent lung A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. tmpak2llvmy_mondo_relaxed.owl DOID:10032|UMLS:C0524799|MESH:D019568 owl:Class MONDO:0004849 biolink:NamedThing pulmonary emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. tmpak2llvmy_mondo_relaxed.owl emphysema|emphysema, pulmonary DOID:9675|ICD9:492|MESH:D011656|MESH:D004646|EFO:0000464|SCTID:87433001|ICD9:492.8|ICD10:J43.8|NCIT:C3348|ICD10:J43|GARD:0011937 owl:Class UBERON:0006647 biolink:NamedThing adventitia of ductus deferens An adventitia that is part of a vas deferens. tmpak2llvmy_mondo_relaxed.owl adventitia of deferent duct|deferent ductal adventitia|tunica adventitia ductus deferentis|adventitia of vas deferens|tunica adventitia (ductus deferens)|adventitia of ductus deferens owl:Class HGNC:17142 biolink:NamedThing OPTN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007851 biolink:NamedThing keratoconus 1 Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. tmpak2llvmy_mondo_relaxed.owl VSX1 keratoconus (disease)|keratoconus 1|KTCN1|keratoconus (disease) caused by mutation in VSX1|keratoconus type 1 UMLS:C1835677|MESH:C563649|OMIM:148300 owl:Class HGNC:17288 biolink:NamedThing APOA5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8768 biolink:NamedThing AIFM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008698 biolink:NamedThing achalasia A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. tmpak2llvmy_mondo_relaxed.owl lack of reflex relaxation of lower oesophageal sphincter|achalasia of cardia|achalasia (disease)|achalasia|cardiospasm|achalasia, familial esophageal|hypertensive lower esophageal sphincter|achalasia of esophagus|esophageal achalasia achalasia (disease) SCTID:235630008|UMLS:C1321756|ICD10:K22.0|UMLS:C2939435|DOID:9164|HP:0002571|UMLS:C0014848|ICD9:530.0|OMIM:200400 owl:Class MONDO:0003749 biolink:NamedThing esophageal disease A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. tmpak2llvmy_mondo_relaxed.owl esophageal disorder|disease or disorder of esophagus|esophagus disease|disorder of esophagus|esophageal ulcer|disease of esophagus|esophagus disease or disorder ICD9:530.9|DOID:6050|UMLS:C0014852|ICD9:530.2|SCTID:37657006|SCTID:30811009|NCIT:C3027|ICD9:530.20|MESH:D004935|ICD10:K22.9|ICD9:530 owl:Class GO:1901317 biolink:NamedThing regulation of flagellated sperm motility Any process that modulates the frequency, rate or extent of flagellated sperm motility. tmpak2llvmy_mondo_relaxed.owl regulation of sperm movement|regulation of sperm motility owl:Class MONDO:0016778 biolink:NamedThing iatrogenic botulism Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. tmpak2llvmy_mondo_relaxed.owl inadvertent botulism|accidental botulism Orphanet:254509|NCIT:C128345|UMLS:C4288922|ICD10:A05.1 owl:Class UBERON:0001323 biolink:NamedThing tibial nerve The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl medial popliteal nerve|n. tibialis owl:Class UBERON:0003431 biolink:NamedThing leg nerve A nerve that is part of a leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of leg owl:Class GO:0045638 biolink:NamedThing negative regulation of myeloid cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation|downregulation of myeloid cell differentiation|down regulation of myeloid cell differentiation owl:Class OBO:CHR_9606-chrXp biolink:NamedThing chrXp (Human) tmpak2llvmy_mondo_relaxed.owl 61000000 0 hg38 owl:Class MONDO:0004077 biolink:NamedThing lumbosacral lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. tmpak2llvmy_mondo_relaxed.owl lipoma of sacral region of vertebral column|sacral region of vertebral column lipoma UMLS:C1334438|DOID:7017|NCIT:C6500 owl:Class MONDO:0001031 biolink:NamedThing purulent acute otitis media Acute form of suppurative otitis media. tmpak2llvmy_mondo_relaxed.owl acute suppurative otitis media|suppurative otitis media, acute UMLS:C0271431|DOID:10435|SCTID:194281003|ICD9:382.02 owl:Class MONDO:0006191 biolink:NamedThing endometrial clear cell adenocarcinoma A clear cell adenocarcinoma that involves the endometrium. tmpak2llvmy_mondo_relaxed.owl clear cell carcinoma of endometrium|clear cell carcinoma of the endometrium|endometrial clear cell adenocarcinoma|endometrium clear cell adenocarcinoma UMLS:C0279765|EFO:1000231|NCIT:C8028|DOID:5299 owl:Class MONDO:0006639 biolink:NamedThing adrenal cortex carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpak2llvmy_mondo_relaxed.owl adrenal cortex adenocarcinoma|adrenocortical cancer|adrenocortical carcinoma (disease)|malignant neoplasm of adrenal cortex|adrenal cortical carcinoma (morphologic abnormality)|cancer of the adrenal cortex|adrenal cortex cancer|cortical cell carcinoma|adrenal cortical adenocarcinoma|adrenal cortex carcinoma|carcinoma of the adrenal cortex|ACC|adenocarcinoma, adrenocortical, malignant|malignant tumour of adrenal cortex|adrenocortical carcinoma|malignant adrenocortical tumor|carcinoma, adrenocortical, malignant|carcinoma of adrenal cortex|adrenal cortical carcinoma|adrenal cortical tumors ICD10:C74.0|SCTID:255035007|HP:0006744|NCIT:C9325|ONCOTREE:ACC|MedDRA:10001388|DOID:3959|DOID:3948|ICDO:8370/3|GARD:0000558|EFO:1000796|Orphanet:1501|DOID:660|UMLS:C0206686 owl:Class MONDO:0021312 biolink:NamedThing malignant tumor of adrenal cortex A cancer that involves the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the adrenal cortex|adrenal cortex cancer|malignant tumor of the adrenal cortex|malignant adrenal cortex neoplasm|cancer of adrenal cortex|malignant adrenocortical tumor|malignant adrenocortical neoplasm|malignant adrenal cortex tumor|malignant neoplasm of adrenal cortex NCIT:C9327|SCTID:371964008 owl:Class GO:0006022 biolink:NamedThing aminoglycan metabolic process The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpak2llvmy_mondo_relaxed.owl aminoglycan metabolism owl:Class SO:0000298 biolink:NamedThing recombination_feature A feature where there has been exchange of genetic material in the event of mitosis or meiosis tmpak2llvmy_mondo_relaxed.owl recombination feature|INSDC_feature:misc_recomb|INSDC_qualifier:other owl:Class MONDO:0006898 biolink:NamedThing periarthritis Inflammation of the tissues around a joint. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl ICD10:M77.9|SCTID:50921008|MedDRA:10034464|MESH:D010489|UMLS:C0031037|DOID:2964|EFO:1001097 owl:Class MONDO:0022057 biolink:NamedThing calcifying epithelial odontogenic tumor A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases. tmpak2llvmy_mondo_relaxed.owl Pindborg tumor|calcifying epithelial odontogenic tumor|CEOT ICDO:9340/0|UMLS:C0334574|GARD:0006256|NCIT:C54301|MESH:C537961 https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor owl:Class MONDO:0032728 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, type 2EE tmpak2llvmy_mondo_relaxed.owl CMT2EE|CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE|Charcot-Marie-Tooth Neuropathy, Type 2Ee OMIM:618400|DOID:0111559 owl:Class MONDO:0020175 biolink:NamedThing malignant tumor of palpebral epidermis A cancer that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl skin of eyelid cancer|cancer of skin of eyelid|malignant skin of eyelid neoplasm|malignant neoplasm of skin of eyelid UMLS:CN207035|SCTID:423425006|Orphanet:98584 owl:Class MONDO:0020172 biolink:NamedThing palpebral epidermal tumor A neoplasm (disease) that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl skin of eyelid neoplasm (disease)|neoplasm of skin of eyelid|skin of eyelid tumor|skin of eyelid neoplasm|tumor of skin of eyelid Orphanet:98581|UMLS:CN207033|SCTID:126499002 owl:Class MONDO:0015174 biolink:NamedThing autoimmune enteropathy type 3 tmpak2llvmy_mondo_relaxed.owl ICD10:K52.8|UMLS:CN226617|Orphanet:103917 owl:Class MONDO:0006144 biolink:NamedThing cervical Wilms tumor An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. tmpak2llvmy_mondo_relaxed.owl cervical Wilms tumor|cervical Wilms' tumor NCIT:C40236|UMLS:C1516437|EFO:1000173|DOID:5190 MONDO:0003323 owl:Class MONDO:0006058 biolink:NamedThing Wilms tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpak2llvmy_mondo_relaxed.owl Wilms tumor|Wilms' tumor|Wilms tumor (nephroblastoma) EFO:1000056|GARD:0007892|MESH:D009396|NCIT:C3267|UMLS:CN244940 owl:Class GO:0051154 biolink:NamedThing negative regulation of striated muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|inhibition of striated muscle cell differentiation owl:Class MONDO:0016359 biolink:NamedThing limited systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. tmpak2llvmy_mondo_relaxed.owl SSC without skin involvement|systemic sclerosis without skin involvement|Scleroderma, sine|systemic sclerosis sine scleroderma|progressive systemic sclerosis sine scleroderma ICD10:M34.0|NCIT:C116789|UMLS:C1290138|GARD:0009749|SCTID:128461001|Orphanet:220407 owl:Class MONDO:0003819 biolink:NamedThing childhood teratoma of the ovary A mature or immature teratoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl pediatric teratoma of the ovary|childhood ovarian teratoma|childhood teratoma of the ovary|childhood teratoma of ovary|pediatric teratoma of ovary|pediatric ovarian teratoma|ovarian teratoma of childhood NCIT:C6554|DOID:6230|UMLS:C1332992 owl:Class MONDO:0012615 biolink:NamedThing intellectual disability, autosomal recessive 7 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 7|MRT7|intellectual disability, autosomal recessive 7|TUSC3 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|mental retardation, autosomal recessive 22|mental retardation, autosomal recessive type 7|intellectual disability, autosomal recessive 22|intellectual disability, autosomal recessive type 7 UMLS:C1970197|OMIM:611093|MESH:C567016 owl:Class UBERON:0012430 biolink:NamedThing tunica fibrosa of eyeball The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. tmpak2llvmy_mondo_relaxed.owl fibrous tunic|tunica fibrosa|fibrous layer of eyeball|corneosclera owl:Class MONDO:0017491 biolink:NamedThing tibial hemimelia, bilateral tmpak2llvmy_mondo_relaxed.owl tibial longitudinal meromelia, bilateral Orphanet:295079|UMLS:CN203229|ICD10:Q72.5 owl:Class MONDO:0010144 biolink:NamedThing tibial hemimelia Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. tmpak2llvmy_mondo_relaxed.owl bilateral absence of the tibia|absence of tibia|tibial hemimelia|tibial longitudinal meromelia|tibia, absence of|congenital longitudinal deficiency of the tibia|congenital absence of tibia|congenital aplasia and dysplasia of the tibia with intact fibula|Thm SCTID:79177001|GARD:0008707|OMIM:275220|ICD10:Q72.5|MESH:C535563|Orphanet:93322 owl:Class CL:0000526 biolink:NamedThing afferent neuron A neuron which conveys sensory information centrally from the periphery. tmpak2llvmy_mondo_relaxed.owl input neuron FMA:87653 cell owl:Class UBERON:0007635 biolink:NamedThing nucleus of medulla oblongata A neural nucleus that is part of a medulla oblongata. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011882 biolink:NamedThing skin fragility-woolly hair-palmoplantar keratoderma syndrome tmpak2llvmy_mondo_relaxed.owl skin fragility woolly hair syndrome|skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|skin fragility-woolly hair syndrome|SFWHS Orphanet:293165|MESH:C564359|GARD:0005231|UMLS:C1843292|OMIM:607655|ICD10:Q82.8 https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome owl:Class CHEBI:75768 biolink:NamedThing mammalian metabolite Any animal metabolite produced during a metabolic reaction in mammals. tmpak2llvmy_mondo_relaxed.owl mammalian metabolites owl:Class PO:0009006 biolink:NamedThing shoot system A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them. tmpak2llvmy_mondo_relaxed.owl Poaceae crown (related)|sistema de epiblasto (epiblastema) (Spanish, exact)|シュート系、苗条系 (Japanese, exact)|thalli (related)|tree crown (narrow)|shoot (related)|thallus (related) PO_GIT:135 The shoot system is generally used to refer to the above-ground plant parts, although some plants have parts of their shoot system underground. For example, a rhizome (PO:0004542), bulb (PO:0025356), a corm (PO:0025355) or a subterranean tuber (PO:0004547), as in Solanum tuberosum (potato) or yam, are all part of the shoot system. plant_anatomy owl:Class PO:0025007 biolink:NamedThing collective plant organ structure A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007). tmpak2llvmy_mondo_relaxed.owl estructura vegetal colectiva de órgano (Spanish, exact)|集合植物器官構造 (Japanese, exact) PO_GIT:63 Organs can be of the same type or different types. Examples include flower (PO:0009046), perianth (PO:0009058), and inflorescence (PO:0009049). See also collective organ part structure (PO:0025269), for plant structures composed of parts of multiple organs, but no complete plant organs. This was formerly named collective plant structure. rwalls 2010-02-09T04:12:11Z plant_anatomy owl:Class UBERON:0010185 biolink:NamedThing rete ovarii A structure formed from the primary sex cords in females, counterpart of the rete testis in males. tmpak2llvmy_mondo_relaxed.owl rete ovarii of ovary owl:Class GO:0050708 biolink:NamedThing regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043786 biolink:NamedThing serositis Inflammation of a serous membrane. tmpak2llvmy_mondo_relaxed.owl serositis|serous membrane inflammation|inflammation of serous membrane|Serositides MESH:D012700|NCIT:C70428|SCTID:370469003 owl:Class GO:0006959 biolink:NamedThing humoral immune response An immune response mediated through a body fluid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011670 biolink:NamedThing Ehlers-Danlos syndrome due to tenascin-X deficiency tmpak2llvmy_mondo_relaxed.owl EDS, classic-like type|Tnx deficiency|EDSCLL|EDS due to Tnx deficiency|clEDS|Ehlers-Danlos syndrome, classic-like|EDS due to TNX deficiency|classical-like EDS|Ehlers-Danlos syndrome, classic-like type|Ehlers-Danlos syndrome due to tenascin-X deficiency|TNX deficiency|classical-like Ehlers-Danlos syndrome|Ehlers-Danlos-like syndrome due to tenascin-X deficiency UMLS:C1848029|OMIM:606408|MESH:C536193|GARD:0008507|Orphanet:230839|ICD10:Q79.6 owl:Class CHEBI:26082 biolink:NamedThing phosphorus molecular entity tmpak2llvmy_mondo_relaxed.owl phosphorus molecular entities owl:Class CL:0002563 biolink:NamedThing intestinal epithelial cell An epithelial cell of the intestine. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-01T05:18:31Z cell owl:Class CL:0002251 biolink:NamedThing epithelial cell of alimentary canal An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-08T09:26:53Z cell owl:Class GO:2000066 biolink:NamedThing positive regulation of cortisol biosynthetic process Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of cortisol formation|positive regulation of cortisol biosynthesis|positive regulation of cortisol anabolism|positive regulation of cortisol synthesis owl:Class MONDO:0011066 biolink:NamedThing Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|CMT 4B1|Charcot-Marie-Tooth neuropathy type 4B1|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2|Charcot-Marie-Tooth disease, type 4B|Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth disease type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|CMT4B1|Charcot Marie Tooth disease type 4B1|CMT 4B|Charcot-Marie-Tooth neuropathy, type 4B1 OMIM:601382|UMLS:C1832399|DOID:0110191|Orphanet:99955|SCTID:715803003|MESH:C535420|ICD10:G60.0|GARD:0001253 https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 owl:Class MONDO:0017192 biolink:NamedThing sporadic secreting paraganglioma tmpak2llvmy_mondo_relaxed.owl ICD10:D44.7|ICD10:C75.5|UMLS:CN202632|Orphanet:276627 owl:Class MONDO:0021146 biolink:NamedThing headache disorder Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) tmpak2llvmy_mondo_relaxed.owl headaches, chronic daily|headache, chronic daily|headache syndromes|chronic daily headaches|intractable headache|intractable headaches|headache, chronic|headaches, intractable|cephalgia syndromes|headache disorder|chronic headache|syndrome, headache|chronic daily headache|headache, intractable|headaches, chronic|daily headaches, chronic|daily headache, chronic|cephalgia syndrome|headache syndrome|chronic headaches SCTID:230461009|MESH:D020773 owl:Class MONDO:0700057 biolink:NamedThing neurological pain disorder A nervous system disorder that has pain as a major feature. tmpak2llvmy_mondo_relaxed.owl neurological pain disease|neurologic pain syndrome http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001789 biolink:NamedThing neurofibroma of spinal cord A neurofibroma that arises from the spinal cord. tmpak2llvmy_mondo_relaxed.owl neurofibroma of spinal cord|spinal cord neurofibroma DOID:13742|UMLS:C1336047|NCIT:C5145 owl:Class MONDO:0002553 biolink:NamedThing cerebellopontine angle tumor A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma. tmpak2llvmy_mondo_relaxed.owl neoplasm of C-P angle|neoplasm of the cerebellopontine angle|cerebellopontine angle tumor|tumor of cerebellopontine angle|neoplasm of the cerebellar Pontine angle|cerebellopontine angle neoplasm (disease)|cerebellar Pontine angle tumor|neoplasm of cerebellar Pontine angle|tumor of the cerebellopontine angle|tumor of C-P angle|cerebellopontine angle neoplasm|tumor of the C-P angle|neoplasm of cerebellopontine angle|neoplasm of the C-P angle|tumor of cerebellar Pontine angle|C-P angle neoplasm|cerebellar Pontine angle neoplasm|C-P angle tumor|tumor of the cerebellar Pontine angle NCIT:C5414|DOID:3200|SCTID:126947009 owl:Class ECTO:0400000 biolink:NamedThing exposure to environmental layer A exposure event involving the interaction of an exposure receptor to layer. tmpak2llvmy_mondo_relaxed.owl layer exposure owl:Class GO:0048477 biolink:NamedThing oogenesis The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster. tmpak2llvmy_mondo_relaxed.owl ovum development owl:Class MONDO:0019946 biolink:NamedThing ligneous conjunctivitis Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia. tmpak2llvmy_mondo_relaxed.owl conjunctivitis lignosa SCTID:403435005|UMLS:C1274789|Orphanet:97231|ICD9:372.39|MedDRA:10071570|GARD:0006187|ICD10:H10.4 owl:Class MONDO:0001576 biolink:NamedThing telangiectasis Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. tmpak2llvmy_mondo_relaxed.owl telangiectasia NCIT:C28194|UMLS:C0039446|MESH:D013684|DOID:1272|SCTID:247479008 owl:Class MONDO:0004989 biolink:NamedThing breast carcinoma A carcinoma that arises from epithelial cells of the breast tmpak2llvmy_mondo_relaxed.owl carcinoma of the breast|breast carcinoma|breast cancer|cancer of breast|mammary carcinoma|breast cancer, NOS|cancer of the breast|carcinoma of breast|cancer, breast EFO:0000305|SCTID:254838004|UMLS:C0678222|DOID:3459|NCIT:C4872 owl:Class MONDO:0013747 biolink:NamedThing atrioventricular septal defect 4 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpak2llvmy_mondo_relaxed.owl atrioventricular septal defect type 4|GATA4 atrioventricular septal defect|atrioventricular septal defect 4|atrioventricular septal defect caused by mutation in GATA4|AVSD4 UMLS:C3280781|OMIM:614430 owl:Class MONDO:0002187 biolink:NamedThing vulvar disease A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. tmpak2llvmy_mondo_relaxed.owl vulvar disorder|vulval disorder|vulvar disease|disorder of vulva NCIT:C27631|MESH:D014845|UMLS:C0042994|DOID:2059|SCTID:5089007 owl:Class MONDO:0010321 biolink:NamedThing autism, susceptibility to, X-linked 1 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, X-linked type 1|susceptibility to X-linked autism 1|autism, susceptibility to, X-linked 1|AUTSX1 OMIM:300425 owl:Class CL:0002480 biolink:NamedThing nasal mucosa goblet cell A goblet cell located in the nasal epithelium. tmpak2llvmy_mondo_relaxed.owl MP:0002262 tmeehan 2010-12-03T03:03:02Z cell owl:Class MONDO:0016482 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 tmpak2llvmy_mondo_relaxed.owl UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11 Orphanet:231147|UMLS:CN201477|ICD10:Q87.1 owl:Class HP:0001792 biolink:NamedThing Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. tmpak2llvmy_mondo_relaxed.owl Small nails|Hypoplastic nail|Small nail|Nail hypoplasia|Hypoplastic nails UMLS:C0263523|SNOMEDCT_US:11375002 HP:0001813 human_phenotype owl:Class HP:0008386 biolink:NamedThing Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. tmpak2llvmy_mondo_relaxed.owl Absent/hypoplastic nails|Absent/small nails|Nail aplasia/hypoplasia|Absent/underdeveloped nails UMLS:C1859077 HP:0008385 human_phenotype owl:Class CL:0002589 biolink:NamedThing smooth muscle cell of the brachiocephalic vasculature A smooth muscle cell of the bachiocephalic vasculature. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:00:58Z cell owl:Class UBERON:0019307 biolink:NamedThing epithelium of external nose Epithelial layer that is part of the external part of the nose. tmpak2llvmy_mondo_relaxed.owl epithelium of skin of external nose owl:Class MONDO:0022756 biolink:NamedThing chromosome 1q deletion Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy 1q|monosomy 1q|1q deletion|1q monosomy|deletion 1q GARD:0008669|UMLS:CN072190 https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion owl:Class MONDO:0018248 biolink:NamedThing intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. tmpak2llvmy_mondo_relaxed.owl Der(8)t(8;12) UMLS:CN204818|Orphanet:369950|ICD10:Q87.8 owl:Class MONDO:0016998 biolink:NamedThing complex chromosomal rearrangement tmpak2llvmy_mondo_relaxed.owl Orphanet:263708 owl:Class UBERON:0001458 biolink:NamedThing skin of lip A zone of skin that is part of a lip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lip zone of skin|zone of skin of lip|skin of lips|lip skin owl:Class UBERON:0001084 biolink:NamedThing skin of head A zone of skin that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of head|head zone of skin|zone of skin of adult head|adult head zone of skin|head skin owl:Class MONDO:0018740 biolink:NamedThing drug-induced methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). tmpak2llvmy_mondo_relaxed.owl acquired methemoglobinemia|drug induced methemoglobinemia ICD10:D74.8|NCIT:C101045|SCTID:191390009|Orphanet:464453|UMLS:C0271905 owl:Class CHEBI:15022 biolink:NamedThing electron donor A molecular entity that can transfer an electron to another molecular entity. tmpak2llvmy_mondo_relaxed.owl Elektronendonator|donneur d'electron|electron donor owl:Class CHEBI:17891 biolink:NamedThing donor A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. tmpak2llvmy_mondo_relaxed.owl Donor|Donator|donneur owl:Class MONDO:0012884 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 13 tmpak2llvmy_mondo_relaxed.owl SLEB13|systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 owl:Class UBERON:0034945 biolink:NamedThing excreted gas Any gaseous product of an excretory process. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000174 biolink:NamedThing excreta A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity tmpak2llvmy_mondo_relaxed.owl excreted substance|portion of excreted substance|waste substance|excretion owl:Class UBERON:0002451 biolink:NamedThing endometrial gland The mucous secreting gland associated with the mucuous membrane lining the uterus. tmpak2llvmy_mondo_relaxed.owl glandulae uterinae|endometrium gland|endometrial gland|uterine gland|endometrial mucuous gland owl:Class MONDO:0021444 biolink:NamedThing benign neoplasm of large intestine A benign neoplasm that involves the large intestine. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the large bowel|benign colorectal neoplasm|benign large bowel neoplasm|tumors, colorectal, benign|neoplasms, colorectal, benign|benign tumor of large bowel|large intestine benign neoplasm|benign large bowel tumor|benign colorectal tumor|benign neoplasm of large bowel|benign colorectal neoplasms|benign colorectal tumors|benign tumor of the large intestine|benign tumor of the large bowel|colorectal tumors, benign|benign neoplasm of the large intestine|colorectal neoplasms, benign|benign large intestine neoplasm|benign large intestine tumor|benign tumor of large intestine NCIT:C4610|UMLS:C0347272|SCTID:92170008 owl:Class MONDO:0012979 biolink:NamedThing primary ciliary dyskinesia 12 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. tmpak2llvmy_mondo_relaxed.owl RSPH9 primary ciliary dyskinesia|CILD12|primary ciliary dyskinesia caused by mutation in RSPH9|primary ciliary dyskinesia 12 without situs inversus|ciliary dyskinesia, primary, 12, without situs inversus|primary ciliary dyskinesia type 12|ciliary dyskinesia, primary, 12|ciliary dyskinesia, primary, type 12 UMLS:C2675228|OMIM:612650|MESH:C567211|ICD10:Q34.8|DOID:0110601 owl:Class HGNC:11843 biolink:NamedThing TLL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041535 biolink:NamedThing mesenteric lymphadenitis due to Yersinia infection An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. tmpak2llvmy_mondo_relaxed.owl lymphadenitis mesenterialis Masshoff|mesenteric lymphadenitis due to Yersinia pseudotuberculosis|Yersinia pseudotuberculosis mesenteric lymphadenitis|Masshoff's syndrome|Yersinia pseudotuberculosis caused mesenteric lymphadenitis UMLS:C0275758|SCTID:13272007 owl:Class MONDO:0016025 biolink:NamedThing myoclonic-astastic epilepsy Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. tmpak2llvmy_mondo_relaxed.owl myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-astatic seizures|EMAS|myoclonic astatic epilepsy|epilepsy with myoclonic-atonic seizures|epilepsy with myoclono-astatic crisis|Doose syndrome|mae|myoclonic atonic epilepsy SCTID:230421008|ICD10:G40.4|ICD9:345.10|GARD:0002169|Orphanet:1942 https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy owl:Class UBERON:0004264 biolink:NamedThing lower leg skin A zone of skin that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb middle limb segment skin|hind limb zeugopod skin owl:Class MONDO:0002197 biolink:NamedThing minor vestibular glands adenoma A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present. tmpak2llvmy_mondo_relaxed.owl minor vestibular gland adenoma|adenoma of minor vestibular glands DOID:2075|UMLS:C1510791|NCIT:C40301 owl:Class MONDO:0000626 biolink:NamedThing vestibular gland benign neoplasm A benign neoplasm that involves the vestibular gland. tmpak2llvmy_mondo_relaxed.owl vestibular gland benign neoplasm DOID:0060088 owl:Class MONDO:0010139 biolink:NamedThing isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. tmpak2llvmy_mondo_relaxed.owl congenital nongoitrous hypothyroidism 4|hypothyroidism, congenital, nongoitrous, type 4|thyroid-stimulating hormone deficiency|TSH deficiency|CHNG4|thyrotropin deficiency, isolated|pituitary cretinism|isolated thyrotropin deficiency|congenital nongoitrous hypothryoidism 4|thyroid-stimulating hormone, deficiency of|thyrotropin, biologically inactive|hypothyroidism, congenital, nongoitrous, 4|isolated TSH deficiency ICD10:E03.1|UMLS:C0271789|OMIM:275100|DOID:0070123|UMLS:C4082174|GARD:0010129|Orphanet:90674 owl:Class GO:0048199 biolink:NamedThing vesicle targeting, to, from or within Golgi The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. tmpak2llvmy_mondo_relaxed.owl dictyosome vesicle targeting|Golgi vesicle targeting|vesicle targeting, to, from or within dictyosome owl:Class GO:0006903 biolink:NamedThing vesicle targeting The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011698 biolink:NamedThing glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. tmpak2llvmy_mondo_relaxed.owl hypermethioninemia due to glycine N-methyltransferase deficiency|hypermethioninemia due to GNMT deficiency|GNMT deficiency|glycine N-methyltransferase deficiency|Glycine N-methyltransferase deficiency DOID:0111037|UMLS:C1847720|OMIM:606664|ICD10:E72.1|GARD:0010764|SCTID:763720007|Orphanet:289891 https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency owl:Class MONDO:0001490 biolink:NamedThing corneal granular dystrophy A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. tmpak2llvmy_mondo_relaxed.owl granular corneal dystrophy ICD9:371.53|ICD10:H18.53|UMLS:C0018179|NCIT:C34651|DOID:12318|SCTID:45283008 owl:Class MONDO:0018954 biolink:NamedThing Loeys-Dietz syndrome Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm syndrome due to TGF-beta receptors anomalies|aortic aneurysm syndrome, Loeys-Dietz type|Loeys-Dietz syndrome DOID:0050466|SCTID:446263001|ICD10:Q87.4|UMLS:C2697932|ICD9:759.89|NCIT:C75006|Orphanet:60030|MESH:D055947|GARD:0010788|OMIMPS:609192 owl:Class MONDO:0017310 biolink:NamedThing Marfan and Marfan-related disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:284993|UMLS:CN227112 owl:Class MONDO:0100133 biolink:NamedThing mitochondrial complex I deficiency A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. tmpak2llvmy_mondo_relaxed.owl complex 1 mitochondrial respiratory chain deficiency|NADH coenzyme Q reductase deficiency|isolated complex I deficiency|isolated NADH-CoQ reductase deficiency|isolated NADH-coenzyme Q reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|isolated NADH-ubiquinone reductase deficiency Orphanet:2609|GARD:0003908|MESH:C537475|DOID:0060536|UMLS:C2936907 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency owl:Class UBERON:0003533 biolink:NamedThing manual digit skin A zone of skin that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of digitus manus|skin of digit of terminal segment of free upper limb|digitus manus skin|skin of hand digit|fore limb digit skin|terminal segment of free upper limb digit skin|finger skin|digit of terminal segment of free upper limb skin|skin of digit of hand|digit of hand skin|hand digit skin|skin of finger|skin of terminal segment of free upper limb digit owl:Class UBERON:0015249 biolink:NamedThing digit skin A zone of skin that is part of a digit [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011365 biolink:NamedThing blepharophimosis - intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|Ohdo syndrome, SBBYS variant|SBBYSS|Young-Simpson syndrome|Say-Barber-Biesecker-Young-Simpson syndrome|blepharophimosis - intellectual disability syndrome, SBBYS type ICD9:759.89|DOID:0060290|Orphanet:3047|ICD10:Q87.8|OMIM:603736|MESH:C536717|SCTID:699298009 owl:Class CHEBI:46967 biolink:NamedThing L-erythro-sphingosine A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry. tmpak2llvmy_mondo_relaxed.owl (2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol|L-erythro-sphing-4-enine|L-Erythro-c18-sphingosine owl:Class CHEBI:46965 biolink:NamedThing (2R,3S)-2-aminooctadec-4-ene-1,3-diol A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration. tmpak2llvmy_mondo_relaxed.owl (2R,3S)-2-aminooctadec-4-ene-1,3-diol owl:Class MONDO:0026724 biolink:NamedThing Paganini-Miozzo syndrome tmpak2llvmy_mondo_relaxed.owl PAGANINI-MIOZZO SYNDROME|Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|MRXSPM OMIM:301025 owl:Class MONDO:0006777 biolink:NamedThing hairy tongue A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. tmpak2llvmy_mondo_relaxed.owl Tongues, hairy|hairy tongue|overgrowth of filiform papillae|hairy Tongues SCTID:255225007|NCIT:C35075|EFO:1000957|MESH:D014064|MedDRA:10043960|UMLS:C0040414|DOID:13500|ICD9:529.8 owl:Class MONDO:0009021 biolink:NamedThing Toriello-Carey syndrome Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. tmpak2llvmy_mondo_relaxed.owl Toriello-Carey syndrome|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|corpus callosum agenesis facial anomalies Robin sequence|agenesis of corpus callosum with facial anomalies and Robin sequence Orphanet:3338|GARD:0005225|MESH:C563127|OMIM:217980|UMLS:C0796184|ICD10:Q87.8|SCTID:722477003 https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome owl:Class MONDO:0013888 biolink:NamedThing tremor, hereditary essential, 4 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. tmpak2llvmy_mondo_relaxed.owl tremor, hereditary essential, type 4|tremor, hereditary essential, 4|essential tremor caused by mutation in FUS|ETM4|FUS essential tremor OMIM:614782|UMLS:C3539195|DOID:0111431 owl:Class MONDO:0011503 biolink:NamedThing cortisone reductase deficiency 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. tmpak2llvmy_mondo_relaxed.owl cortisone reductase deficiency caused by mutation in H6PD|cortisone reductase deficiency type 1|hexose-6-phosphate dehydrogenase deficiency|CORTRD1|apparent cortisone reductase deficiency|H6PD cortisone reductase deficiency|cortisone reductase deficiency 1 NCIT:C131849|UMLS:C3551716|OMIM:604931|DOID:0090141 owl:Class MONDO:0000193 biolink:NamedThing cortisone reductase deficiency A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. tmpak2llvmy_mondo_relaxed.owl hyperandrogenism due to cortisone reductase deficiency|HSD 11B1 deficiency|deficiency of cortisone reductase|11-beta-hydroxysteroid dehydrogenase deficiency type 1|deficiency of (R)-20-hydroxysteroid dehydrogenase|CORTRD|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of ICD10:E25.8|Orphanet:168588|SCTID:124138004|ICD9:277.6|MESH:C536447|UMLS:CN200166|OMIMPS:604931|GARD:0009882|DOID:0090139 https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency owl:Class MONDO:0011517 biolink:NamedThing pseudohyperaldosteronism type 2 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. tmpak2llvmy_mondo_relaxed.owl hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy ICD10:I15.1|Orphanet:88660|OMIM:605115|MESH:C565359|SCTID:766937004|UMLS:C1854631 owl:Class MONDO:0024664 biolink:NamedThing hypertension, pregnancy-induced A hypertensive disorder that develops during pregnancy. tmpak2llvmy_mondo_relaxed.owl transient hypertension, pregnancy|hypertension-associated pregnancy disorder|hypertension, pregnancy induced|hypertension complicating pregnancy|hypertension, gestational|hypertension associated disorders of pregnancy|hypertension, pregnancy transient|hypertensions, pregnancy induced|hypertension induced by pregnancy|gestational hypertension|pregnancy transient hypertension|induced Hypertensions, pregnancy|induced hypertension, pregnancy|pregnancy-induced hypertension|pregnancy induced hypertension MESH:D046110|NCIT:C9243|SCTID:48194001 MONDO:0024581 owl:Class UBERON:0002149 biolink:NamedThing superior salivatory nucleus Nucleus containing parasympathetic neurons giving rise to the parasympathetic division of the facial nerve, innervating the salivary glands (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 703). tmpak2llvmy_mondo_relaxed.owl nucleus salivatorius superior|nucleus salivatorius rostralis|superior salivary nucleus|nucleus salivatorius cranialis|nucleus salivarius superior owl:Class UBERON:0004133 biolink:NamedThing salivatory nucleus . tmpak2llvmy_mondo_relaxed.owl salivary nucleus owl:Class UBERON:0034987 biolink:NamedThing lumbar nerve plexus A nervous plexus in the lumbar region of the body which forms part of the lumbosacral plexus. tmpak2llvmy_mondo_relaxed.owl plexus lumbalis|femoral plexus|lumbar plexus owl:Class UBERON:0001815 biolink:NamedThing lumbosacral nerve plexus An arrangement of nerve fibers, running from the spine that travels to the pelvic appendage where it innervates skin and muscle. tmpak2llvmy_mondo_relaxed.owl plexus lumbosacralis|lumbosacral plexus owl:Class MONDO:0009010 biolink:NamedThing aortic arch interruption Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. tmpak2llvmy_mondo_relaxed.owl Orphanet:2299|ICD10:Q20.1|GARD:0000740|ICD10:Q25.4|MedDRA:10022599|ICD9:745.11|ICD10:Q25.21 https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption owl:Class MONDO:0014505 biolink:NamedThing developmental and epileptic encephalopathy, 27 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene. tmpak2llvmy_mondo_relaxed.owl EIEE27|epileptic encephalopathy, early infantile, type 27|epileptic encephalopathy, early infantile, 27|DEE27|early infantile epileptic encephalopathy caused by mutation in GRIN2B|GRIN2B early infantile epileptic encephalopathy DOID:0080444|OMIM:616139|UMLS:C4015316 owl:Class MONDO:0012241 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|PEOA3 UMLS:C1836439|MESH:C563747|DOID:0111520|OMIM:609286 owl:Class MONDO:0008003 biolink:NamedThing autosomal dominant progressive external ophthalmoplegia Autosomal dominant form of progressive external ophthalmoplegia. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal dominant|adPEO|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|PEOA1 ICD10:H49.4|UMLS:CN202062|MESH:C563575|Orphanet:254892 owl:Class MONDO:0002955 biolink:NamedThing vulva basal cell carcinoma A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis. tmpak2llvmy_mondo_relaxed.owl mammalian vulva skin basal cell carcinoma|vulvar basal cell cancer|skin basal cell carcinoma of mammalian vulva|vulvar basal cell carcinoma|basal cell carcinoma of the vulva|basal cell carcinoma of vulva UMLS:C1336977|NCIT:C6381|SCTID:717731002|DOID:4301|Orphanet:494451 owl:Class MONDO:0010648 biolink:NamedThing major affective disorder 2 tmpak2llvmy_mondo_relaxed.owl MAJOR affective disorder 2|bipolar affective disorder|MAFD2|major affective disorder 2|manic-depressive psychosis, X-linked|manic-depressive illness MESH:C564108|OMIM:309200|DOID:0080221 owl:Class MONDO:0000693 biolink:NamedThing bipolar II disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. tmpak2llvmy_mondo_relaxed.owl bipolar ll disorder|bipolar II disorder|bipolar 2 disorder ICD9:296.89|SCTID:83225003|DOID:0060166 owl:Class HGNC:16473 biolink:NamedThing NME8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013143 biolink:NamedThing hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency tmpak2llvmy_mondo_relaxed.owl hereditary thrombophilia due to congenital HRG deficiency|thrombophilia due to elevated histidine-rich glycoprotein|thrombophilia due to histidine-rich glycoprotein deficiency|THPH11 ICD10:D68.5|OMIM:613116|MESH:C567737|Orphanet:217467 owl:Class MONDO:0001833 biolink:NamedThing lacrimal duct obstruction Blockage of the tear duct. tmpak2llvmy_mondo_relaxed.owl blocked lacrimal canaliculus|obstruction of lacrimal canaliculus|obstruction of lacrimal ducts DOID:13929|MESH:D007767|SCTID:416920000 owl:Class MONDO:0044984 biolink:NamedThing nasolacrimal duct disease A disease or disorder that involves the nasolacrimal duct. tmpak2llvmy_mondo_relaxed.owl disease or disorder of nasolacrimal duct|nasolacrimal duct disease|disease of nasolacrimal duct|disorder of nasolacrimal duct|nasolacrimal duct disease or disorder UMLS:C0521744|SCTID:95767006 owl:Class CL:0002170 biolink:NamedThing keratinized cell of the oral mucosa A keratinized cell located in the hard palate or gingiva. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-08-26T02:51:30Z cell owl:Class UBERON:0003059 biolink:NamedThing presomitic mesoderm Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. tmpak2llvmy_mondo_relaxed.owl somitomeric mesoderm|segmental plate|unsegmented mesenchyme|somitogenic mesoderm|unsegmented paraxial mesoderm|PSM|presumptive somite mesoderm owl:Class CHEBI:49637 biolink:NamedThing hydrogen atom tmpak2llvmy_mondo_relaxed.owl hidrogeno|hydrogen|hydrogene|H|Wasserstoff|1H owl:Class MONDO:0002976 biolink:NamedThing stomach diverticulosis A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. tmpak2llvmy_mondo_relaxed.owl UMLS:C1148546|MESH:D045724|DOID:4370 owl:Class MONDO:0004298 biolink:NamedThing stomach disease A disease involving the stomach. tmpak2llvmy_mondo_relaxed.owl stomach disease or disorder|disease or disorder of stomach|stomach disorder|disorder of stomach|gastropathy|stomach disease|disease of stomach|gastric disease MESH:D013272|ICD9:537.89|DOID:76|SCTID:29384001|NCIT:C26886|ICD9:537.9|UMLS:C0038354 owl:Class MONDO:0003541 biolink:NamedThing adult acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during adulthood. tmpak2llvmy_mondo_relaxed.owl adult acute lymphocytic leukemia|adult acute lymphoid leukemia|acute lymphoblastic leukemia (ALL)|adult acute lymphoblastic leukemia|adult acute lymphogenous leukemia|adult ALL|adult precursor lymphoblastic leukemia NCIT:C4967|DOID:5604|UMLS:C0751606 owl:Class MONDO:0001906 biolink:NamedThing posterior dislocation of lens tmpak2llvmy_mondo_relaxed.owl ICD10:H27.13|ICD9:379.34|UMLS:C0155373|DOID:14199|SCTID:14169000 May be obsoleted as it represents a finding; TODO add HPO class owl:Class MONDO:0001176 biolink:NamedThing lens disease A disease involving the lens of camera-type eye. tmpak2llvmy_mondo_relaxed.owl disease or disorder of lens of camera-type eye|lens of camera-type eye disease or disorder|disorder of lens of camera-type eye|lens disorder|disease of lens of camera-type eye|lens of camera-type eye disease MESH:D007905|NCIT:C26812|UMLS:C0023308|ICD10:H25-H28|DOID:110|SCTID:10810001|ICD9:379.39|ICD10:H27.9 Includes cataracts, lens subluxation and aphakia owl:Class MONDO:0004496 biolink:NamedThing myocarditis Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. tmpak2llvmy_mondo_relaxed.owl inflammation of myocardium|myocardium inflammation|myocardial inflammation (finding)|myocardial inflammation UMLS:C0027059|GARD:0007137|ICD10:I51.4|MESH:D009205|ICD9:429.0|NCIT:C34831|DOID:820|SCTID:50920009|ICD10:I40|KEGG:05416 https://rarediseases.info.nih.gov/diseases/7137/myocarditis owl:Class NCBITaxon:426441 biolink:NamedThing Amblyomminae tmpak2llvmy_mondo_relaxed.owl Eschatocephalinae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6939 biolink:NamedThing Ixodidae tmpak2llvmy_mondo_relaxed.owl hard ticks|scale ticks|hardbacked ticks GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001846 biolink:NamedThing internal ear Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. tmpak2llvmy_mondo_relaxed.owl labyrinth|auris interna|inner ear|otocyst owl:Class MONDO:0009900 biolink:NamedThing polysyndactyly-cardiac malformation syndrome Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). tmpak2llvmy_mondo_relaxed.owl polysyndactyly with CARDIAC malformation|Bonneau syndrome|polysyndactyly cardiac malformation SCTID:724066002|MESH:C564875|ICD10:Q87.8|UMLS:C1849719|GARD:0004428|Orphanet:2934|OMIM:263630 owl:Class MONDO:0024633 biolink:NamedThing hypertensive nephropathy Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. tmpak2llvmy_mondo_relaxed.owl hypertensive renal disease|HNP1|hypertensive nephropathy OMIM:608026|UMLS:C0848548|NCIT:C4757|MESH:C563161|ICD9:403.90|SCTID:38481006 owl:Class GO:0090278 biolink:NamedThing negative regulation of peptide hormone secretion Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008959 biolink:NamedThing CHAND syndrome tmpak2llvmy_mondo_relaxed.owl curly hair-ankyloblepharon-nail dysplasia syndrome|CHANDS|CHAND syndrome MESH:C538074|SCTID:239037001|OMIM:214350|UMLS:C0406733|Orphanet:1401|UMLS:CN199447 owl:Class MONDO:0003062 biolink:NamedThing intestinal benign neoplasm A benign neoplasm that involves the intestine. tmpak2llvmy_mondo_relaxed.owl benign intestine neoplasm|benign neoplasms of the large and/or small intestine|benign intestine tumor|benign neoplasms of large and/or small intestine|benign intestinal neoplasm|benign intestinal tumor|benign tumor of the intestines|benign intestinal neoplasms|benign tumor of intestines|intestinal neoplasms, benign|benign neoplasm of intestines|intestinal tumors, benign|benign intestinal tumors|benign neoplasm of the intestines|intestine benign neoplasm UMLS:C0347269|NCIT:C4609|SCTID:92151003 owl:Class MONDO:0018701 biolink:NamedThing congenital nemaline myopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:457074 owl:Class MONDO:0011485 biolink:NamedThing autosomal recessive congenital ichthyosis 5 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. tmpak2llvmy_mondo_relaxed.owl ARCI5|lamellar ichthyosis, type 3|ichthyosis lamellar 3|ichthyosis, lamellar, 3, formerly|ichthyosis, congenital, autosomal recessive type 5|NNCI|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|ichthyosis congenita 3|LI3, formerly|ichthyosis congenita III|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|autosomal recessive congenital ichthyosis 5|type 3 lamellar ichthyosis|ichthyosis, lamellar, 3|ichthyosis, congenital, autosomal recessive 5|autosomal recessive congenital ichthyosis type 5 ICD10:Q80.2|MESH:C537265|DOID:0060714|OMIM:604777|GARD:0009734 https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 owl:Class FOODON:00003004 biolink:NamedThing animal A multicellular eukaryotic heterotrophic organism within the kingdom Animalia. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010998 biolink:NamedThing ALG3-CDG A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). tmpak2llvmy_mondo_relaxed.owl CDG 1D|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|congenital disorder of glycosylation type 1d|congenital disorder of glycosylation type Id|CDG-Id|CDGS4 (formerly)|CDG1D|carbohydrate deficient glycoprotein syndrome type Id|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|ALG3-CDG (CDG-Id)|carbohydrate-deficient glycoprotein syndrome, type IV|mannosyltransferase 6 deficiency|CDGId|congenital disorder of glycosylation, type Id|CDG Id|CDG syndrome type Id|Cdgs, type IV|Cdgs, type IV, formerly MESH:C535742|SCTID:720976009|ICD10:E77.8|UMLS:C1832736|DOID:0080556|Orphanet:79321|OMIM:601110|NCIT:C126870|GARD:0009827 owl:Class MONDO:0005344 biolink:NamedThing hepatitis B virus infection A viral infection caused by the hepatitis B virus. tmpak2llvmy_mondo_relaxed.owl serum hepatitis|hepatitis B infection|Hepatitis B virus caused hepatitis|chronic hepatitis B|hepatitis type B|Hepatitis B virus hepatitis|viral Hepatitis B|Hepatitis B infection|Hepatitis B SCTID:66071002|EFO:0004197|MESH:D006509|NCIT:C3097|ICD9:070.30|UMLS:C0019163|DOID:2043 owl:Class MONDO:0018451 biolink:NamedThing X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. tmpak2llvmy_mondo_relaxed.owl X-linked distal spinal muscular atrophy|X-linked dHMN|distal hereditary motor neuropathy, X-linked Orphanet:404538|ICD10:G12.2 owl:Class MONDO:0005631 biolink:NamedThing actinomycosis Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. tmpak2llvmy_mondo_relaxed.owl actinomycotic madura foot|anaerobic Actinomyces infection|actinomycotic mycetema|Madura foot due to Actinomadura|actinomycotic mycetoma of foot|actinomycetoma|Actinomyces israeli|Actinomycetes|boil|infections, Actinomyces|Actinomyces infection|Keratoactinomycosis|canaliculitis ICD10:A42.1|UMLS:C0001261|Orphanet:457095|ICD9:039|EFO:0007128|GARD:0005728|ICD10:A42.7|ICD10:A42.8|ICD10:A42.2|ICD10:A42|ICD10:A42.0|DOID:8478|MESH:D000196|ICD9:039.9|NCIT:C34350|ICD10:A42.9 https://rarediseases.info.nih.gov/diseases/5728/actinomycosis owl:Class GO:0031305 biolink:NamedThing integral component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl integral to mitochondrial inner membrane owl:Class GO:0032592 biolink:NamedThing integral component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl integral to mitochondrial membrane owl:Class UBERON:0010358 biolink:NamedThing arch of centrum of vertebra An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum tmpak2llvmy_mondo_relaxed.owl vertebra arch|arch of vertebra|vertebral arch|arcus vertebrae (vertebralis) owl:Class HP:0032973 biolink:NamedThing Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. tmpak2llvmy_mondo_relaxed.owl Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. peter human_phenotype owl:Class HP:0002088 biolink:NamedThing Abnormal lung morphology Any structural anomaly of the lung. tmpak2llvmy_mondo_relaxed.owl Abnormally shaped lung|Abnormality of the lungs|Abnormality of lung structure|Unusal lung shape|Lung disease SNOMEDCT_US:19829001|UMLS:C4021760|MSH:D008171|UMLS:C0024115 human_phenotype owl:Class HGNC:29427 biolink:NamedThing SH3TC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004293 biolink:NamedThing supraglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. tmpak2llvmy_mondo_relaxed.owl supraglottic part of larynx squamous cell carcinoma|squamous cell carcinoma of supraglottis|supraglottic squamous cell carcinoma|supraglottic epidermoid carcinoma|epidermoid carcinoma of the supraglottis|squamous cell carcinoma of the supraglottis|supraglottis epidermoid carcinoma|epidermoid carcinoma of supraglottis|supraglottis squamous cell carcinoma DOID:7587|UMLS:C0749163|NCIT:C4945 owl:Class MONDO:0004357 biolink:NamedThing carcinoma of supraglottis A carcinoma of the larynx that arises from the supraglottic area. tmpak2llvmy_mondo_relaxed.owl supraglottic carcinoma|supraglottic throat cancer|cancer of the supraglottis|cancer of supraglottis|supraglottic part of larynx carcinoma|supraglottis carcinoma|supraglottic cancer|carcinoma of supraglottic part of larynx|carcinoma of the supraglottis|carcinoma of supraglottis NCIT:C5973|UMLS:C1299240|SCTID:372105009|DOID:7763 owl:Class UBERON:0004889 biolink:NamedThing lobar bronchus vasculature Vasculature that is composed of the tubule structures that carry blood or lymph in the lungs tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016693 biolink:NamedThing subependymal giant cell astrocytoma A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) tmpak2llvmy_mondo_relaxed.owl SEGA|subependymal giant cell astrocytoma (morphologic abnormality)|subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor NCIT:C3696|GARD:0010632|DOID:5077|ICDO:9384/1|UMLS:C0205768|SCTID:449799008|Orphanet:251618|ICD10:D43.2 https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma owl:Class MONDO:0007667 biolink:NamedThing subependymoma Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. tmpak2llvmy_mondo_relaxed.owl mixed subependymoma-ependymoma|subependymoma|WHO grade I ependymal neoplasm|SUBEPENDYMOMA, benign|subependymal glioma|WHO grade I ependymal tumor|subependymal astrocytoma|subependymal astrocytoma (formerly) EFO:1001197|ICDO:9383/1|UMLS:C0206725|ICD10:D43.2|ONCOTREE:SUBE|DOID:4843|Orphanet:251639|MESH:D018315|NCIT:C3795|GARD:0010070|EFO:1000553 owl:Class CL:0000075 biolink:NamedThing columnar/cuboidal epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0000199 biolink:NamedThing neck of radius The narrow part of the shaft of the radius just below the head. tmpak2llvmy_mondo_relaxed.owl radial neck|collum radii owl:Class UBERON:0000301 biolink:NamedThing amniotic cavity A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds. tmpak2llvmy_mondo_relaxed.owl cavitas amniotica owl:Class MONDO:0012336 biolink:NamedThing cataract 22 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene. tmpak2llvmy_mondo_relaxed.owl cataract 22, multiple types|CTRCT22|CATCN2|cataract, congenital nuclear, autosomal recessive 2|CRYBB3 early-onset non-syndromic cataract|autosomal recessive congenital nuclear cataract 2|early-onset non-syndromic cataract caused by mutation in CRYBB3 ICD10:Q12.0|DOID:0110268|MESH:C565725|UMLS:C1857853|OMIM:609741 owl:Class MONDO:0020347 biolink:NamedThing acute inflammatory demyelinating polyradiculoneuropathy An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). tmpak2llvmy_mondo_relaxed.owl acute inflammatory demyelinating polyradiculopathy|acute inflammatory polyneuropathy|AIDP|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute idiopathic demyelinating polyneuropathy|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form NCIT:C116926|ICD10:G61.0|UMLS:CN207194|Orphanet:98916 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830 owl:Class UBERON:0001782 biolink:NamedThing pigmented layer of retina A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup[ZFA]. the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells[WP]. tmpak2llvmy_mondo_relaxed.owl stratum pigmentosum retinae|pigment epithelium of retina|outer pigmented layer of retina|RPE|retinal pigment layer|pigmented retinal epithelium|stratum pigmentosum (retina)|retinal pigment epithelium|epithelium, retinal pigment|PRE|retinal pigmented epithelium|p. pigmentosa retinae|pigmented retina|stratum pigmentosa retinae|pigmented retina epithelium|pigmented epithelium owl:Class UBERON:0000957 biolink:NamedThing lamina Any thin layer or plate. tmpak2llvmy_mondo_relaxed.owl laminar tissue owl:Class MONDO:0006325 biolink:NamedThing ocular melanoma A melanoma that arises from the structures of the eye or ocular adnexa. tmpak2llvmy_mondo_relaxed.owl melanoma of eye|melanoma of the eye|eye melanoma (disease)|eyeball of camera-type eye melanoma (disease)|ocular melanoma|OM|eyeball of camera-type eye melanoma|eye melanoma|melanoma (disease) of eyeball of camera-type eye ONCOTREE:OM|EFO:1000403|GARD:0007236|NCIT:C8562|DOID:1752 owl:Class MONDO:0018046 biolink:NamedThing thrombocytopenia-robin sequence syndrome tmpak2llvmy_mondo_relaxed.owl congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock-Carey syndrome|thrombocytopenia Robin sequence|Braddock Carey syndrome Orphanet:3323|MESH:C536898|GARD:0005193|UMLS:C2931364 owl:Class MONDO:0013860 biolink:NamedThing idiopathic membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. tmpak2llvmy_mondo_relaxed.owl membranous GN|Extramembranous glomerulonephritis|MBNP|idiopathic membranous nephropathy|MGN|glomerulonephritis, membranous|membranous nephropathy - Idiopathic|membranous nephropathy, susceptibility to|Idiopathic membranous glomerulopathy UMLS:C0086445|OMIM:614692|SCTID:722119002|ICD10:N04.2|GARD:0009180|NCIT:C123060|Orphanet:97560 owl:Class MONDO:0015459 biolink:NamedThing nasopharyngeal carcinoma A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl malignant nasopharyngeal tumor|malignant neoplasm of nasopharynx (disorder) [ambiguous]|malignant tumor of anterior wall of nasopharynx|malignant tumor of lateral wall of nasopharynx|carcinoma of the nasopharynx|NPC|carcinoma of nasopharynx|malignant neoplasm of nasopharyngeal wall|malignant neoplasm of posterior wall of nasopharynx|nasopharyngeal cancer|malignant neoplasm of anterior wall of nasopharynx|cancer of nasopharynx|malignant neoplasm of superior wall of nasopharynx|malignant tumor of posterior wall of nasopharynx|nasopharyngeal carcinoma|nasopharyngeal throat cancer|malignant neoplasm of other specified sites of nasopharynx|nasopharynx carcinoma|malignant neoplasm of lateral wall of nasopharynx|squamous cell carcinoma of the nasopharynx|malignant neoplasm of roof of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of nasopharynx|cancer of the nasopharynx ICD10:C11|ICD10:C11.3|ICD9:147.9|ICD10:C11.9|DOID:9261|ICD10:C11.0|MESH:C538339|ONCOTREE:NPC|ICD10:C11.2|UMLS:CN199582|UMLS:C0153396|UMLS:C3647449|ICD10:C11.1|ICD9:147|UMLS:C0153395|NCIT:C3871|UMLS:C3665551|MESH:D00007727|SCTID:363398003|ICD9:147.1|UMLS:C0153393|UMLS:C0153394|ICD9:147.0|Orphanet:150|MedDRA:10028793|UMLS:C2931822|ICD9:147.3|ICD9:147.2 owl:Class MONDO:0017344 biolink:NamedThing Epstein-Barr virus-associated carcinoma tmpak2llvmy_mondo_relaxed.owl EBV-associated carcinoma Orphanet:289651 owl:Class MONDO:0018781 biolink:NamedThing KID syndrome Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. tmpak2llvmy_mondo_relaxed.owl keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|KID/HID syndrome|ichthyosis hystrix Rheydt type|Senter syndrome|keratitis, ichthyosis, and deafness (KID) syndrome GARD:0003113|UMLS:CN205136|ICD10:Q80.8|SCTID:2625009|OMIMPS:148210|UMLS:C0265336|ICD9:759.89|Orphanet:477|MedDRA:10048786 Editor note: Orphanet classifies as both AD and AR owl:Class MONDO:0017666 biolink:NamedThing diffuse palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl diffuse keratosis palmoplantaris|diffuse PPK|diffuse palmoplantar hyperkeratosis UMLS:C0022584|SCTID:400123002|Orphanet:307141|ICD9:757.39|HP:0007435|ICD10:Q82.8 owl:Class HGNC:29256 biolink:NamedThing SOBP tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001903 biolink:NamedThing Anemia A reduction in erythrocytes volume or hemoglobin concentration. tmpak2llvmy_mondo_relaxed.owl Decreased haemoglobin|Decreased hemoglobin|Low number of red blood cells or hemoglobin|Anaemia|Low number of red blood cells or haemoglobin MSH:D000740|SNOMEDCT_US:165397008|UMLS:C0002871|UMLS:C0162119|SNOMEDCT_US:271737000 Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. HP:0003136|HP:0001926|HP:0005509 human_phenotype owl:Class MONDO:0016882 biolink:NamedThing partial deletion of chromosome 20 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 20|partial monosomy of chromosome 20 Orphanet:261846|ICD10:Q93.5 owl:Class MONDO:0010020 biolink:NamedThing congenital generalized lipodystrophy type 2 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene. tmpak2llvmy_mondo_relaxed.owl Berardinelli-Seip congenital lipodystrophy, type 2|total lipodystrophy and acromegaloid gigantism|lipodystrophy, total, and acromegaloid gigantism|CGL2|lipodystrophy, congenital generalized, type 2|BSCL2 congenital generalized lipodystrophy (disease)|lipodystrophy, Berardinelli-Seip congenital, type 2|Brunzell syndrome BSCL2-related|BSCL2-related Brunzell syndrome|congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|congenital lipoatrophic diabetes|Berardinelli syndrome|Berardinelli-Seip congenital lipodystrophy type 2|Brunzell syndrome, BSCL2-related|Berardinelli Seip congenital lipodystrophy type 2|Berardinelli-Seip syndrome|lipoatrophic diabetes, congenital|Seip syndrome OMIM:269700|GARD:0010212|DOID:0111136|ICD10:E88.1 https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2 owl:Class MONDO:0002468 biolink:NamedThing hyperimmunoglobulin syndrome tmpak2llvmy_mondo_relaxed.owl hyperimmunoglobulin syndrome NCIT:C27579|DOID:2959|UMLS:C1334069 owl:Class UBERON:0011138 biolink:NamedThing postcranial axial skeletal system Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. tmpak2llvmy_mondo_relaxed.owl axial skeletal system|post-cranial axial skeletal system owl:Class MONDO:0008165 biolink:NamedThing southeast Asian ovalocytosis Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. tmpak2llvmy_mondo_relaxed.owl ovalocytosis, southeast Asian|stomatocytic elliptocytosis|hereditary ovalocytosis|ovalocytosis, Malaysian-Melanesian-Filipino type|ovalocytosis, hereditary hemolytic|elliptocytosis, stomatocytic hereditary|elliptocytosis 4|sao|Melanesian ovalocytosis|Melanesian elliptocytosis|he, stomatocytic SCTID:191169008|ICD9:282.1|UMLS:C1862323|UMLS:C1833690|OMIM:166900|ICD10:D58.1|Orphanet:98868 owl:Class HGNC:10879 biolink:NamedThing STIL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017411 biolink:NamedThing neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. tmpak2llvmy_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal Orphanet:294023|OMIMPS:614328|UMLS:CN228266 owl:Class UBERON:0001425 biolink:NamedThing pectoral lymphatic vessel tmpak2llvmy_mondo_relaxed.owl PL owl:Class ENVO:01001110 biolink:NamedThing ecosystem An environmental system which includes both living and non-living components. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042749 biolink:NamedThing regulation of circadian sleep/wake cycle Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006749 biolink:NamedThing glutathione metabolic process The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. tmpak2llvmy_mondo_relaxed.owl oxidized glutathione reduction|glutathione metabolism owl:Class MONDO:0017537 biolink:NamedThing Preaxial polydactyly of toes, unilateral tmpak2llvmy_mondo_relaxed.owl bifid great toes, unilateral|bifid halluces, unilateral|bifid hallux, unilateral ICD10:Q69.2|Orphanet:295175 owl:Class MONDO:0017457 biolink:NamedThing Preaxial polydactyly of toes tmpak2llvmy_mondo_relaxed.owl bifid hallux|bifid great toes|preaxial polydactyly of foot|bifid halluces Orphanet:295006|SCTID:205132000|GARD:0012771|ICD10:Q69.2 owl:Class CHEBI:53212 biolink:NamedThing isocyanates Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N). tmpak2llvmy_mondo_relaxed.owl iso-cyanates owl:Class NCBITaxon:2845253 biolink:NamedThing Treponemataceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006715 biolink:NamedThing coronary stenosis Narrowing of the coronary artery lumen diameter. tmpak2llvmy_mondo_relaxed.owl coronary artery stenosis DOID:4248|MedDRA:10011089|MESH:D023921|UMLS:C0242231|SCTID:233970002|EFO:1000882 owl:Class GO:1903049 biolink:NamedThing negative regulation of acetylcholine-gated cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpak2llvmy_mondo_relaxed.owl downregulation of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|down-regulation of acetylcholine-gated cation channel activity|inhibition of acetylcholine-gated cation channel activity owl:Class GO:1903048 biolink:NamedThing regulation of acetylcholine-gated cation channel activity Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13887 biolink:NamedThing ABCG8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000590 biolink:NamedThing autoimmune disease of peripheral nervous system A hypersensitivity reaction type II disease that involves the peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl peripheral nervous system hypersensitivity reaction type II disease|peripheral nervous system autoimmune disease DOID:0060033 owl:Class ECTO:0000439 biolink:NamedThing exposure to formaldehyde An exposure to formaldehyde. tmpak2llvmy_mondo_relaxed.owl exposure to formaldehyde owl:Class CL:0000049 biolink:NamedThing common myeloid progenitor A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. tmpak2llvmy_mondo_relaxed.owl CMP|multipotential myeloid stem cell|pluripotent stem cell (bone marrow)|CFU-S|myeloid stem cell|CFU-GEMM|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor BTO:0004730 This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). cell owl:Class HP:0100598 biolink:NamedThing Pulmonary edema Fluid accumulation in the lungs. tmpak2llvmy_mondo_relaxed.owl Wet lung|Pulmonary oedema|Lung oedema|Excess fluid in lungs|Lung edema MSH:D011654|SNOMEDCT_US:19242006|UMLS:C0034063 doelkens 2010-12-27T05:10:09Z human_phenotype owl:Class GO:0032410 biolink:NamedThing negative regulation of transporter activity Any process that stops or reduces the activity of a transporter. tmpak2llvmy_mondo_relaxed.owl downregulation of transporter activity|down regulation of transporter activity|down-regulation of transporter activity|inhibition of transporter activity owl:Class GO:0032409 biolink:NamedThing regulation of transporter activity Any process that modulates the activity of a transporter. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017153 biolink:NamedThing pulmonary arterial hypertension associated with HIV infection Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. tmpak2llvmy_mondo_relaxed.owl PAH associated with HIV infaction 2022-03-01 Orphanet:275808|EFO:0009194|ICD10:I27.2|UMLS:C3697673|ICD9:416.8|SCTID:697904001 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0000544 biolink:NamedThing mucosal melanoma A melanoma that arises from a mucosal site. tmpak2llvmy_mondo_relaxed.owl mucosal melanoma DOID:0050929|UMLS:C3898222|NCIT:C114828 owl:Class UBERON:0001840 biolink:NamedThing semicircular canal One of three half-circular, interconnected tubes located inside each ear[WP]. tmpak2llvmy_mondo_relaxed.owl scc|semicircular ducts|semicircular canals|canalis semicircularis|ductus semicirculares owl:Class MONDO:0010007 biolink:NamedThing microbrachycephaly-ptosis-cleft lip syndrome Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl microbrachycephaly ptosis cleft lip|Richieri-COSTA/Guion-Almeida syndrome|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|short stature, mental retardation, eye anomalies, and cleft Lip/palate|Richieri Costa-Guion Almeida-Ramos syndrome|sao Paulo MCA/Mr syndrome OMIM:268850|GARD:0003596|UMLS:C0796142|Orphanet:2511|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip owl:Class MONDO:0014961 biolink:NamedThing spermatogenic failure 16 Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene. tmpak2llvmy_mondo_relaxed.owl SUN5 azoospermia|acephalic spermatozoa syndrome|SPGF16|spermatogenic failure type 16|spermatogenic failure 16; SPGF16|spermatogenic failure 16|azoospermia caused by mutation in SUN5 OMIM:617187|DOID:0070184|UMLS:C4310674 owl:Class GO:0032056 biolink:NamedThing positive regulation of translation in response to stress Any process that activates or increases the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl activation of translation in response to stress|up-regulation of translation in response to stress|up regulation of translation in response to stress|upregulation of translation in response to stress|stimulation of translation in response to stress owl:Class CL:0000197 biolink:NamedThing sensory receptor cell A cell that is capable of detection of a stimulus involved in sensory perception. tmpak2llvmy_mondo_relaxed.owl receptor cell cell owl:Class MONDO:0015046 biolink:NamedThing gamma-heavy chain disease Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. tmpak2llvmy_mondo_relaxed.owl gamma-HCD|gamma heavy chain disease|Franklin's disease|Franklin disease GARD:0010346|ICD9:273.2|SCTID:109984001|Orphanet:100026|ICD10:C88.2|DOID:0060127|NCIT:C3083 owl:Class MONDO:0019464 biolink:NamedThing heavy chain disease Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. tmpak2llvmy_mondo_relaxed.owl HCD|heavy chain disease EFO:1001341|NCIT:C3082|ICD9:273.2|SCTID:68979007|MedDRA:10019350|UMLS:C0018852|ICDO:9762/3|DOID:0060125|ICD10:C88.3|ICD10:C88.2|MESH:D006362|Orphanet:86864 owl:Class GO:0032411 biolink:NamedThing positive regulation of transporter activity Any process that activates or increases the activity of a transporter. tmpak2llvmy_mondo_relaxed.owl upregulation of transporter activity|up-regulation of transporter activity|activation of transporter activity|up regulation of transporter activity|stimulation of transporter activity owl:Class HGNC:1500 biolink:NamedThing CASP10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009022 biolink:NamedThing corpus callosum, agenesis of A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. tmpak2llvmy_mondo_relaxed.owl agenesis of corpus callosum|ACC|corpus callosum agenesis|isolated corpus callosum agenesis|corpus callosum, agenesis of|agenesis of the corpus callosum OMIM:217990|GARD:0001535|SCTID:5102002|NCIT:C98905|MESH:D061085 owl:Class PATO:0001694 biolink:NamedThing decreased viscosity A viscosity which relatively low. tmpak2llvmy_mondo_relaxed.owl low viscosity owl:Class MONDO:0021317 biolink:NamedThing cancer of cerebellum A cancer that involves the cerebellum. tmpak2llvmy_mondo_relaxed.owl malignant cerebellar neoplasm|malignant neoplasm of the cerebellum|cerebellar neoplasm, malignant|malignant cerebellum neoplasm|cerebellar cancer|malignant tumor of cerebellum|cerebellum cancer|cancer of the cerebellum|malignant neoplasm of cerebellum|malignant tumor of the cerebellum|cerebellar tumor, malignant|malignant cerebellar tumor|malignant cerebellar neoplasms|cancer of cerebellum ICD9:191.6|NCIT:C3569|SCTID:449420002 owl:Class MONDO:0002913 biolink:NamedThing cerebellar neoplasm A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 tmpak2llvmy_mondo_relaxed.owl neoplasm of the cerebellum|cerebellar tumor|malignant tumor of cerebellum|tumor of the cerebellum|cerebellum neoplasm|cerebellum tumor|cerebellar neoplasm|cerebellum neoplasm (disease)|neoplasm of cerebellum|tumor of cerebellum|cerebellum cancer NCIT:C2935|DOID:4205|ICD9:191.6|ICD10:C71.6|UMLS:C0007762|MESH:D002528|SCTID:126960003 owl:Class MONDO:0001910 biolink:NamedThing ochronosis disorder A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. tmpak2llvmy_mondo_relaxed.owl ochronosis GARD:0007231|HP:0030764|UMLS:C0028817|ICD10:E70.29|DOID:14223|NCIT:C84938|ICD9:270.2|SCTID:410042009|MESH:D009794 owl:Class MONDO:0009964 biolink:NamedThing short-rib thoracic dysplasia 9 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. tmpak2llvmy_mondo_relaxed.owl renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia|Mainzer Saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer syndrome|SRTD9|Mainzer-Saldino syndrome|Conorenal syndrome DOID:0110097|SCTID:254092004|ICD9:759.89|Orphanet:140969|OMIM:266920|ICD10:Q87.5|GARD:0008600 owl:Class UBERON:0003468 biolink:NamedThing ureteric segment of renal artery The ureteral branches of renal artery are small branches which supply the ureter. tmpak2llvmy_mondo_relaxed.owl ureteric artery owl:Class MONDO:0014520 biolink:NamedThing 46,XX ovarian dysgenesis-short stature syndrome tmpak2llvmy_mondo_relaxed.owl ovarian dysgenesis 4|ODG4|ovarian dysgenesis type 4 OMIM:616185|Orphanet:444048|ICD10:Q96.8|DOID:0080496|UMLS:C4015409 owl:Class UBERON:0010367 biolink:NamedThing conjunctival vein A vein that is part of a conjunctiva. tmpak2llvmy_mondo_relaxed.owl conjunctival blood vessel owl:Class MONDO:0015278 biolink:NamedThing familial pancreatic carcinoma Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. tmpak2llvmy_mondo_relaxed.owl hereditary exocrine pancreatic carcinoma|pancreatic acinar carcinoma|hereditary pancreatic carcinoma|familial pancreatic cancer|familial pancreatic carcinoma|hereditary pancreatic cancer Orphanet:1333|SCTID:715414009|UMLS:C2931038|ICD10:C25|OMIM:260350|NCIT:C43298|GARD:0004206|MESH:C535837 owl:Class HGNC:17494 biolink:NamedThing GJC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:8000019 biolink:NamedThing vertigo, benign recurrent, 1 tmpak2llvmy_mondo_relaxed.owl vertigo, benign recurrent, 1 owl:Class UBERON:0002824 biolink:NamedThing vestibular ganglion The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus. tmpak2llvmy_mondo_relaxed.owl vestibulocochlear VIII ganglion vestibular component|vestibulocochlear ganglion vestibular component|Scarpa's ganglion|nucleus nervi oculomotorii, pars medialis|vestibular part of vestibulocochlear ganglion owl:Class GO:0051171 biolink:NamedThing regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl regulation of nitrogen metabolic process|regulation of nitrogen metabolism owl:Class UBERON:0004261 biolink:NamedThing lower leg blood vessel A blood vessel that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindlimb zeugopod blood vessel owl:Class UBERON:0003503 biolink:NamedThing leg blood vessel A blood vessel that is part of a leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of leg owl:Class UBERON:0035553 biolink:NamedThing left cardiac chamber Any chamber of the left side of the heart tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006814 biolink:NamedThing iritis Inflammation of the iris. tmpak2llvmy_mondo_relaxed.owl iritis (disease)|iritis|inflammation of iris|iris inflammation iritis (disease) SCTID:65074000|DOID:1406|EFO:1000997|NCIT:C50621|HP:0001101|UMLS:C0022081|MedDRA:10022955|MESH:D007500 owl:Class GO:0072330 biolink:NamedThing monocarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpak2llvmy_mondo_relaxed.owl monocarboxylic acid biosynthesis|monocarboxylic acid anabolism|monocarboxylic acid formation|monocarboxylic acid synthesis owl:Class MONDO:0003241 biolink:NamedThing central nervous system hemangioma A hemangioma arising from the brain and spinal cord. tmpak2llvmy_mondo_relaxed.owl hemangioma of CNS|hemangioma of the central nervous system|hemangioma of central nervous system|hemangioma of the CNS|central nervous system hemangioma DOID:501|UMLS:C1333957|NCIT:C7004 owl:Class HP:0010783 biolink:NamedThing Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. tmpak2llvmy_mondo_relaxed.owl Redness of skin or mucous membrane SNOMEDCT_US:20255002|MSH:D005483|UMLS:C0041834|SNOMEDCT_US:444827008|SNOMEDCT_US:238810007|UMLS:C0016382|SNOMEDCT_US:271811009|MSH:D004890|SNOMEDCT_US:70819003|SNOMEDCT_US:86735004|SNOMEDCT_US:247441003 peter 2010-04-30T11:40:43Z human_phenotype owl:Class MONDO:0020651 biolink:NamedThing mixed germ cell tumor of vulva tmpak2llvmy_mondo_relaxed.owl ONCOTREE:VMGCT owl:Class MONDO:0020650 biolink:NamedThing germ cell tumor of the vulva tmpak2llvmy_mondo_relaxed.owl ONCOTREE:VGCT owl:Class UBERON:0009497 biolink:NamedThing epithelium of foregut-midgut junction An epithelium that is part of a foregut-midgut junction. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7461 biolink:NamedThing MT-ND5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011081 biolink:NamedThing dislocation of the hip-dysmorphism syndrome Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. tmpak2llvmy_mondo_relaxed.owl Collins-Pope syndrome|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism|dislocation of the hip dysmorphism|Collins Pope syndrome MESH:C563315|ICD10:Q87.2|Orphanet:2412|GARD:0001428|OMIM:601450|SCTID:763755009|UMLS:C1832353 https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome owl:Class MONDO:0004872 biolink:NamedThing hemorrhoid Dilated veins in the anal canal. tmpak2llvmy_mondo_relaxed.owl hemorrhoidal disease|Hemorrhoids|hemorrhoid ICD9:455.8|MESH:D006484|SCTID:70153002|ICD10:K64|ICD9:455|NCIT:C26792|UMLS:C0019112|DOID:9746 owl:Class GO:0002286 biolink:NamedThing T cell activation involved in immune response The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl T-lymphocyte activation during immune response|T cell activation during immune response|T lymphocyte activation during immune response|T-cell activation during immune response owl:Class GO:0002285 biolink:NamedThing lymphocyte activation involved in immune response A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl lymphocyte activation during immune response owl:Class MONDO:0003627 biolink:NamedThing rheumatic pulmonary valve disease A rheumatologic disorder that involves the pulmonary valve. tmpak2llvmy_mondo_relaxed.owl rheumatic disease of pulmonary valve|pulmonary valve rheumatologic disorder|rheumatic pulmonary incompetence|rheumatologic disorder of pulmonary valve UMLS:C0155579|ICD9:397.1|ICD10:I09.89|SCTID:18687009|DOID:5748 owl:Class MONDO:0003628 biolink:NamedThing pulmonary valve disease A disease involving the pulmonary valve. tmpak2llvmy_mondo_relaxed.owl disorder of pulmonary valve|disease of pulmonary valve|disease or disorder of pulmonary valve|pulmonary valve disease or disorder|pulmonary valve disease|pulmonary valve disorder ICD9:424.3|SCTID:76267008|DOID:5749|UMLS:C0034087|NCIT:C78579 owl:Class MONDO:0010694 biolink:NamedThing nystagmus, myoclonic tmpak2llvmy_mondo_relaxed.owl myoclonic nystagmus|nystagmus, myoclonic MESH:C564088|GARD:0009605|UMLS:C1839579|OMIM:310800 https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic owl:Class MONDO:0007635 biolink:NamedThing Frasier syndrome Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. tmpak2llvmy_mondo_relaxed.owl Frasier syndrome NCIT:C122805|OMIM:136680|DOID:0050438|MESH:D052159|GARD:0002375|ICD9:759.89|SCTID:445431000|ICD10:N04.1|UMLS:C0950122|Orphanet:347 https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome owl:Class MONDO:0009883 biolink:NamedThing alpha-2-plasmin inhibitor deficiency Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl congenital alpha2-antiplasmin deficiency|alpha-2-plasmin inhibitor deficiency|antiplasmin deficiency|antiplasmin deficiency, congenital|antiplasmin defiency|plasmin inhibitor deficiency|anti-plasmin deficiency, congenital GARD:0000731|DOID:0060601|UMLS:C2752081|SCTID:716746003|Orphanet:79|OMIM:262850|ICD10:D68.8|MESH:C537777 owl:Class MONDO:0054846 biolink:NamedThing epilepsy, familial adult myoclonic, 6 tmpak2llvmy_mondo_relaxed.owl benign Adult Familial myoclonic epilepsy 6|epilepsy, FAMILIAL ADULT myoclonic, 6|FAME6|cortical myoclonic tremor with epilepsy, Familial, 6 DOID:0111696|UMLS:CN252655|OMIM:618074 owl:Class GO:0046889 biolink:NamedThing positive regulation of lipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpak2llvmy_mondo_relaxed.owl up-regulation of lipid biosynthetic process|positive regulation of lipid biosynthesis|activation of lipid biosynthetic process|stimulation of lipid biosynthetic process|positive regulation of lipid formation|up regulation of lipid biosynthetic process|positive regulation of lipid anabolism|positive regulation of lipogenesis|positive regulation of lipid synthesis|upregulation of lipid biosynthetic process owl:Class GO:0009891 biolink:NamedThing positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpak2llvmy_mondo_relaxed.owl up regulation of biosynthetic process|positive regulation of anabolism|stimulation of biosynthetic process|positive regulation of biosynthesis|up-regulation of biosynthetic process|upregulation of biosynthetic process|positive regulation of formation|activation of biosynthetic process|positive regulation of synthesis owl:Class MONDO:0011775 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 1 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpak2llvmy_mondo_relaxed.owl NPC|nasopharyngeal carcinoma, susceptibility to, 1|nasopharyngeal carcinoma|nasopharyngeal carcinoma caused by mutation in TP53|nasopharyngeal cancer|TP53 nasopharyngeal carcinoma|Npca UMLS:C1846758|OMIM:607107 owl:Class MONDO:0006267 biolink:NamedThing liver cavernous hemangioma A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. tmpak2llvmy_mondo_relaxed.owl liver cavernous hemangioma|cavernous hemangioma of liver NCIT:C96839|EFO:1000322|UMLS:C3282904 owl:Class MONDO:0004642 biolink:NamedThing tonsillar pillar cancer A cancer that involves the tonsillar pillar. tmpak2llvmy_mondo_relaxed.owl malignant tumour of tonsillar pillar|malignant tumor of tonsillar pillar|malignant neoplasm of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior ICD10:C09.1|SCTID:187675005|UMLS:C0153385|DOID:8688|ICD9:146.2 owl:Class UBERON:0002328 biolink:NamedThing notochord A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. tmpak2llvmy_mondo_relaxed.owl embryonic notocord|notocord|notochorda owl:Class MONDO:0019922 biolink:NamedThing paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). tmpak2llvmy_mondo_relaxed.owl paternal uniparental disomy of chromosome type 7|UPD(7)pat ICD10:Q99.8|Orphanet:96192|SCTID:766721001 owl:Class MONDO:0012966 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 4 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene. tmpak2llvmy_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, type 4|microvascular complications of diabetes, susceptibility to, 4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|IL1RN microvascular complications of diabetes, susceptibility|MVCD4|nephropathy, diabetic, susceptibility to OMIM:612628 owl:Class MONDO:0000065 biolink:NamedThing microvascular complications of diabetes, susceptibility tmpak2llvmy_mondo_relaxed.owl microvascular complications of diabetes OMIMPS:603933|UMLS:CN357508 Editor note: relationship to diabetic angiopathy owl:Class GO:0001894 biolink:NamedThing tissue homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. tmpak2llvmy_mondo_relaxed.owl tissue maintenance owl:Class GO:0060249 biolink:NamedThing anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpak2llvmy_mondo_relaxed.owl anatomical structure maintenance owl:Class MONDO:0015133 biolink:NamedThing quantitative and/or qualitative congenital phagocyte defect tmpak2llvmy_mondo_relaxed.owl Orphanet:101985 Editor note: check how relates to phagocytosis terms owl:Class HP:0002352 biolink:NamedThing Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. tmpak2llvmy_mondo_relaxed.owl UMLS:C0270612|SNOMEDCT_US:22811006|MSH:D056784 This feature can be demonstrated by magnetic resonance imaging or computer tomography. HP:0007073|HP:0006838 human_phenotype owl:Class MONDO:0000685 biolink:NamedThing visual agnosia An inability to recognize or interpret objects by sight. tmpak2llvmy_mondo_relaxed.owl visual agnosia (disease)|visual agnosia|visuoperceptual agnosia visual agnosia (disease) HP:0030222|SCTID:25762009|DOID:0060155|NCIT:C35276 owl:Class MONDO:0016452 biolink:NamedThing idiopathic hypersomnia without long sleep time Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening. tmpak2llvmy_mondo_relaxed.owl ICD10:F51.1|ICD10:G47.12|ICD9:327.12|SCTID:442292004|UMLS:C1561855|Orphanet:228318 owl:Class MONDO:0018044 biolink:NamedThing idiopathic hypersomnia Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. tmpak2llvmy_mondo_relaxed.owl primary hypersomnia|idiopathic hypersomnolence NCIT:C116343|SCTID:3731000119107|GARD:0008737|ICD10:F51.1|Orphanet:33208|UMLS:C0751757|MESH:D020177 https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia owl:Class MONDO:0008640 biolink:NamedThing vasculitis, lymphocytic, nodular Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. tmpak2llvmy_mondo_relaxed.owl lymphocytic vasculitis|vasculitis, lymphocytic, nodular|vasculitis lymphocytic, nodular GARD:0006941|MESH:C566008|OMIM:192310|UMLS:C1860519 https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis owl:Class MONDO:0044913 biolink:NamedThing metastatic malignant neoplasm in the eye A malignant neoplasm that has spread to the eye from another anatomic site. tmpak2llvmy_mondo_relaxed.owl Metastatic neoplasm to the eye|metastasis to the eye|Metastatic tumor to the eye|Metastatic malignant neoplasm to the eye|Metastatic malignant neoplasm in the eye|eye metastasis|Metastases to eye|metastasis to eye|Metastases to the eye NCIT:C4586|SCTID:94292003|UMLS:C0347019 owl:Class MONDO:0015227 biolink:NamedThing non-syndromic limb malformation tmpak2llvmy_mondo_relaxed.owl isolated limb malformation|nonsyndromic limb malformation Orphanet:109011 owl:Class MONDO:0019276 biolink:NamedThing inherited epidermolysis bullosa Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa hereditaria|hereditary epidermolysis bullosa SCTID:402781004|Orphanet:79361|ICD10:Q81.8|ICD10:Q81.2|ICD9:757.39|ICD10:Q81.9|ICD10:Q81.0|ICD10:Q81.1 owl:Class MONDO:0022606 biolink:NamedThing branchial arch disease A disease that involves the pharyngeal system development. tmpak2llvmy_mondo_relaxed.owl disease of pharyngeal system development|disorder of pharyngeal system development|pharyngeal system development disease GARD:0001001 owl:Class MONDO:0009946 biolink:NamedThing hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. tmpak2llvmy_mondo_relaxed.owl Umph1 deficiency|hemolytic Anemia due to P5N deficiency|P5N deficiency|hemolytic Anemia due to Umph1 deficiency|UMPH1 deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|uridine 5'-monophosphate hydrolase deficiency|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to OMIM:266120|MESH:C564859|ICD10:D55.3|UMLS:C1849507|Orphanet:35120 owl:Class MONDO:0019238 biolink:NamedThing inborn disorder of pyrimidine metabolism ANPM tmpak2llvmy_mondo_relaxed.owl inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|pyrimidine metabolic disorder|rare inborn error of pyrimidine nucleobase metabolic process|disorder of pyrimidine metabolism MedDRA:10070969|DOID:0050832|Orphanet:79193 owl:Class UBERON:0000328 biolink:NamedThing gut wall The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). tmpak2llvmy_mondo_relaxed.owl wall of gut|digestive tract wall|wall of digestive tract|wall of alimentary tract owl:Class MONDO:0003310 biolink:NamedThing Monckeberg arteriosclerosis A type of arteriosclerosis in which calcification of the tunica media is the predominant feature. tmpak2llvmy_mondo_relaxed.owl Mönckeberg arteriosclerosis UMLS:C0887866|NCIT:C35770|DOID:5161 owl:Class MONDO:0002277 biolink:NamedThing arteriosclerosis disorder A vascular disorder characterized by thickening and hardening of the walls of the arteries. tmpak2llvmy_mondo_relaxed.owl vascular sclerosis|arteriosclerotic cardiovascular disease|cardiovascular arteriosclerosis|arteriosclerotic vascular disease|arteriosclerosis|arterial sclerosis DOID:2349|EFO:0009086|SCTID:72092001|NCIT:C34398|DOID:2348|NCIT:C34403|UMLS:C3665365|CSP:0571-2299|MESH:D001161|UMLS:C0003850|HP:0002634|ICD9:440|ICD10:I70|ICD10:I25.1 owl:Class CL:2000044 biolink:NamedThing brain microvascular endothelial cell Any microvascular endothelial cell that is part of a brain. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:24:53Z cell owl:Class MONDO:0007204 biolink:NamedThing Cole-Carpenter syndrome 1 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. tmpak2llvmy_mondo_relaxed.owl P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome 1|Cole-Carpenter syndrome caused by mutation in P4HB|Cole-Carpenter syndrome type 1|COLE-CARPENTER syndrome 1|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features|CLCRP1 UMLS:CN029402|OMIM:112240|UMLS:C4317154 owl:Class MONDO:0016085 biolink:NamedThing Cole-Carpenter syndrome Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). tmpak2llvmy_mondo_relaxed.owl bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|Cole Carpenter syndrome ICD10:Q78.0|NCIT:C130985|MESH:C535963|Orphanet:2050|GARD:0001425|OMIMPS:112240|UMLS:C1862178|DOID:0060438 owl:Class MONDO:0017668 biolink:NamedThing intellectual disability-short stature-hypertelorism syndrome Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. tmpak2llvmy_mondo_relaxed.owl Stoll-Géraudel-Chauvin syndrome|Stoll-GC)raudel-Chauvin syndrome|intellectual disability short stature hypertelorism|mental retardation short stature hypertelorism|intellectual deficit - short stature - hypertelorism ICD10:Q87.8|GARD:0003514|UMLS:CN203552|Orphanet:3074 https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism owl:Class UBERON:0003573 biolink:NamedThing arm connective tissue A portion of connective tissue that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:36830 biolink:NamedThing Clostridium botulinum E tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1491 biolink:NamedThing Clostridium botulinum tmpak2llvmy_mondo_relaxed.owl Bacillus botulinus|Ermengemillus botulinus|Botulobacillus botulinus|Pacinia putrifica|Bacillus putrificus|Clostridium putrificum GC_ID:11|PMID:10028279|PMID:15244052 NCBITaxon:29368 ncbi_taxonomy owl:Class MONDO:0002373 biolink:NamedThing benign mesothelioma A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. tmpak2llvmy_mondo_relaxed.owl benign tumor of mesothelial tissue|mesothelioma, benign|benign tumor of mesothelium SCTID:254825007|ICD9:215.9|DOID:2645|ICD10:C45.9|UMLS:C0348424|ICD10:C45 owl:Class MONDO:0011482 biolink:NamedThing dilated cardiomyopathy 1I Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1I|CMD1I|familial isolated dilated cardiomyopathy caused by mutation in DES|DES familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1I|cardiomyopathy, dilated, 1I DOID:0110431|MESH:C565752|UMLS:C1858154|ICD10:I42.0|OMIM:604765 owl:Class MONDO:0016187 biolink:NamedThing qualitative or quantitative defects of desmin tmpak2llvmy_mondo_relaxed.owl Orphanet:209041 owl:Class MONDO:0010197 biolink:NamedThing whistling face syndrome, recessive form tmpak2llvmy_mondo_relaxed.owl whistling face syndrome, recessive form OMIM:277720|DOID:0111606|UMLS:C1848470|MESH:C536699|GARD:0010024 https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form owl:Class MONDO:0009332 biolink:NamedThing congenital hematological disorder A disorder of the blood that is present at birth. tmpak2llvmy_mondo_relaxed.owl congenital hematological disorder|congenital hematological system disease NCIT:C104003 owl:Class MONDO:0024326 biolink:NamedThing pleural adenomatoid tumor A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma. tmpak2llvmy_mondo_relaxed.owl pleural mesothelioma, benign|pleural adenomatoid tumor|pleura adenomatoid tumor|pleural benign mesothelioma|benign mesothelioma of the pleura|benign mesothelioma of pleura NCIT:C4499 owl:Class MONDO:0003308 biolink:NamedThing pleural mesothelioma A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath. tmpak2llvmy_mondo_relaxed.owl pleural mesothelioma (disease), benign|mesothelioma of pleura|pleural mesothelioma|mesothelioma of the pleura|pleural mesothelioma (disease)|pleura mesothelioma|benign pleural mesothelioma SCTID:109372009|EFO:1000485|DOID:5157|HP:0100002|NCIT:C9351|ONCOTREE:PLMESO owl:Class MONDO:0013503 biolink:NamedThing candidiasis, familial, 6 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene. tmpak2llvmy_mondo_relaxed.owl CANDF6|familial chronic mucocutaneous candidiasis caused by mutation in IL17F|candidiasis, familial, 6|IL17F familial chronic mucocutaneous candidiasis|candidiasis, familial, type 6|candidiasis, familial chronic mucocutaneous, autosomal dominant UMLS:C3151405|OMIM:613956 owl:Class GO:0006750 biolink:NamedThing glutathione biosynthetic process The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. tmpak2llvmy_mondo_relaxed.owl glutathione formation|glutathione biosynthesis|glutathione anabolism|glutathione synthesis owl:Class GO:0042398 biolink:NamedThing cellular modified amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. tmpak2llvmy_mondo_relaxed.owl cellular modified amino acid biosynthesis|cellular amino acid derivative formation|cellular modified amino acid formation|cellular modified amino acid anabolism|cellular amino acid derivative anabolism|cellular modified amino acid synthesis|cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|cellular amino acid derivative synthesis|amino acid derivative biosynthetic process owl:Class MONDO:0019113 biolink:NamedThing benign paroxysmal torticollis of infancy Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205631|SCTID:719521002|Orphanet:71518|ICD10:G24.3 owl:Class MONDO:0016058 biolink:NamedThing paroxysmal dystonia tmpak2llvmy_mondo_relaxed.owl Orphanet:200037|ICD9:333.99|SCTID:230310003 owl:Class UBERON:0003260 biolink:NamedThing endoderm of hindgut An endoderm that is part of a hindgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindgut endoderm owl:Class NBO:0000355 biolink:NamedThing posture "Intentionally or habitually assumed arrangement of the body and its limbs." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000317 biolink:NamedThing vestibular behavior "Behavior related to the awareness of body balance and movement." [MBP:GVG] tmpak2llvmy_mondo_relaxed.owl proprioception owl:Class GO:0051147 biolink:NamedThing regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MPATH:603 biolink:NamedThing pathological anatomical entity Anatomically located instance of pathological response or entity. tmpak2llvmy_mondo_relaxed.owl owl:Class MPATH:0 biolink:NamedThing pathological entity Pathological structure or process tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004232 biolink:NamedThing large cell keratinizing variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. tmpak2llvmy_mondo_relaxed.owl squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357|DOID:7461|UMLS:C1519486 owl:Class MONDO:0000659 biolink:NamedThing delta-heavy chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). tmpak2llvmy_mondo_relaxed.owl delta chain disease|IgD heavy chain disease|delta heavy chain disease ICD9:203.80|DOID:0060129|UMLS:C0272253|SCTID:20224008 owl:Class MONDO:0016159 biolink:NamedThing Gemignani syndrome tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness|spinocerebellar ataxia-amyotrophy-deafness syndrome GARD:0002451|MESH:C537678|UMLS:C2931587|Orphanet:2074 https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome owl:Class MONDO:0016270 biolink:NamedThing low-grade neuroendocrine tumor of the corpus uteri Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. tmpak2llvmy_mondo_relaxed.owl low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine neoplasm of the endometrium|well-differentiated neuroendocrine tumor of the endometrium|well-differentiated neuroendocrine tumor of the corpus uteri ICD10:C54.1|ICD10:C54.3|ICD10:C54.8|Orphanet:213736|ICD10:C54.2|UMLS:CN201059|ICD10:C54.0 owl:Class UBERON:0010065 biolink:NamedThing auditory meatus epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016958 biolink:NamedThing partial duplication of the long arm of chromosome 7 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 7q|partial trisomy 7q|7q duplication|partial duplication of the long arm of chromosome type 7|partial trisomy of the long arm of chromosome 7|chromosome 7q duplication|Duplication 7q|7q trisomy|trisomy 7q|partial duplication of chromosome 7q GARD:0005357|MESH:C537821|Orphanet:262887|UMLS:C0795821 owl:Class UBERON:0005236 biolink:NamedThing osseus labyrinth vestibule A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear. tmpak2llvmy_mondo_relaxed.owl vestibulum auris|vestibule|vestibulum labyrinthi|vestibular part of bony labyrinth|osseous labyrinth vestibule|inner ear vestibule|inner ear vestibulum|vestibular apparatus|vestibule of bony labyrinth|bony labyrinth vestibule owl:Class MONDO:0006617 biolink:NamedThing vesiculobullous skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) tmpak2llvmy_mondo_relaxed.owl dermatoses, bullous|vesicular skin disease|skin disease, bullous|vesiculobullous skin diseases|vesiculobullous skin disease|Sneddon Wilkinson disease|skin diseases, bullous|skin diseases, vesicular|Sneddon-Wilkinson disease|vesiculobullous dermatoses|dermatoses, vesiculobullous|dermatoses, subcorneal pustular|vesicular skin diseases|subcorneal pustular dermatosis|bullous skin diseases|bullous skin disease|subcorneal pustular dermatoses|skin disease, vesiculobullous|pustular dermatoses, subcorneal|pustular dermatosis, subcorneal|bullous dermatoses|dermatosis, subcorneal pustular|skin disease, vesicular MESH:D012872|EFO:1000774|DOID:2731|UMLS:C0037275 owl:Class NCBITaxon:37296 biolink:NamedThing Human gammaherpesvirus 8 tmpak2llvmy_mondo_relaxed.owl Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8|Human herpesvirus 8 type P|HHV8|Kaposi's sarcoma-associated herpes-like virus|KSHV|Kaposi's sarcoma-associated herpesvirus|Human herpesvirus 8|Kaposi's sarcoma herpesvirus GC_ID:1 NCBITaxon:435896 ncbi_taxonomy owl:Class NCBITaxon:10379 biolink:NamedThing Rhadinovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010467 biolink:NamedThing Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl trisomy Xq27.3q28|trisomy Xq27.3-q28|chromosome Xq27.3-q28 DUPLICATION syndrome|Xq27.3-q28 microduplication syndrome|dup(X)(q27.3q28) OMIM:300869|UMLS:C3275521|Orphanet:261483|ICD10:Q99.8 owl:Class MONDO:0025404 biolink:NamedThing coronaviral enteritis of turkeys An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus. tmpak2llvmy_mondo_relaxed.owl coronaviral enteritis of turkeys|Bluecomb of turkeys|enteritis, transmissible, of turkeys|transmissible enteritis of turkeys MESH:D004753|UMLS:C0014342 owl:Class MONDO:0025113 biolink:NamedThing poultry disease Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. tmpak2llvmy_mondo_relaxed.owl poultry disease|diseases, poultry|disease, poultry UMLS:C0032851|MESH:D011201 owl:Class GO:0043230 biolink:NamedThing extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043226 biolink:NamedThing organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018415 biolink:NamedThing ethmoid foramen An bone foramen in the ethmoid bone. tmpak2llvmy_mondo_relaxed.owl foramina ethmoidalia|ethmoid foramina|ethmoidal foramen|ethmoidal foramina owl:Class MONDO:0100378 biolink:NamedThing acute myeloid leukemia, t(10;11)(p11.2;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(10;11)(p11.2;q23) owl:Class MONDO:0021084 biolink:NamedThing vision disorder Any impairment to the vision. tmpak2llvmy_mondo_relaxed.owl disorder of vision|disorder of visual system|visual disorder|vision disorder|visual Field disorder|visual system disorder MESH:D014786|SCTID:95677002|NCIT:C35126|UMLS:C0042790 owl:Class PATO:0001305 biolink:NamedThing increased temperature A temperature which is relatively high. tmpak2llvmy_mondo_relaxed.owl hot|high temperature owl:Class UBERON:0010413 biolink:NamedThing parametrial fat pad encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament tmpak2llvmy_mondo_relaxed.owl parametrial fat depot|parametrial fat|parametrial adipose tissue owl:Class UBERON:0015143 biolink:NamedThing mesenteric fat pad Encapsulated adipose tissue associated with the mesentery tmpak2llvmy_mondo_relaxed.owl mesenteric fat depot owl:Class UBERON:0004528 biolink:NamedThing alveolar ridge of mandible The thickened ridge of bone that contains the tooth sockets on the mandible. tmpak2llvmy_mondo_relaxed.owl alveolar process of mandible|alveolar part of mandible|pars alveolaris (mandibula)|alveolar margin of mandible|alveolar arch of mandible|upper alveolar ridge|anterior alveolar ridge|pars alveolaris mandibulae owl:Class MONDO:0015733 biolink:NamedThing low anorectal malformation Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation. tmpak2llvmy_mondo_relaxed.owl ICD10:Q42.3|Orphanet:171215|NCIT:C98975|SCTID:253772005|ICD9:751.5|UMLS:C0345218|ICD10:Q42.2 owl:Class MONDO:0018916 biolink:NamedThing isolated anorectal malformation Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. tmpak2llvmy_mondo_relaxed.owl nonsyndromic anorectal malformation ICD10:Q42.0|ICD10:Q42.1|Orphanet:557|ICD10:Q42.2|ICD10:Q42.3 owl:Class GO:0010455 biolink:NamedThing positive regulation of cell fate commitment Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023158 biolink:NamedThing Fitz-Hugh-Curtis syndrome Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. tmpak2llvmy_mondo_relaxed.owl perihepatitis syndrome|gonococcal perihepatitis MESH:C537936|GARD:0006452|SCTID:237041005 Editor note: check taxon https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome owl:Class MONDO:0014339 biolink:NamedThing autosomal recessive spinocerebellar ataxia 16 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 16|autosomal recessive cerebellar ataxia caused by mutation in STUB1|spinocerebellar ataxia, autosomal recessive type 16|autosomal recessive spinocerebellar ataxia type 16|SCAR16|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia autosomal recessive type 16 UMLS:C4014261|Orphanet:412057|OMIM:615768|DOID:0080029|ICD10:G11.1 owl:Class GO:1903335 biolink:NamedThing regulation of vacuolar transport Any process that modulates the frequency, rate or extent of vacuolar transport. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001889 biolink:NamedThing Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). tmpak2llvmy_mondo_relaxed.owl Megaloblastic anaemia UMLS:C0002888|SNOMEDCT_US:53165003|MSH:D000749 Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. HP:0004858 human_phenotype owl:Class HP:0001972 biolink:NamedThing Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). tmpak2llvmy_mondo_relaxed.owl Macrocytic anaemia MSH:D000748|SNOMEDCT_US:83414005|UMLS:C0002886 The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. human_phenotype owl:Class HGNC:15836 biolink:NamedThing PROKR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007896 biolink:NamedThing acute monocytic leukemia Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). tmpak2llvmy_mondo_relaxed.owl acute monocytic leukemia, morphology|acute monocytic leukemia (FAB M5B)|AML-M5|acute monocytic leukemia (FAB M5b)|acute monocytic leukemia, morphology (morphologic abnormality)|leukemia, acute monocytic|acute monoblastic/monocytic leukemia|leukemia, monocytic, malignant|acute monocytic leukemia without mention of remission|monocytic leukemia, acute|AML M5|acute monocytic leukemia, FAB M5|acute monocytic leukemia|acute monoblastic leukemia|monocytic leukemia|acute monoblastic leukemia and acute monocytic leukemia|acute myeloblastic leukemia type 5 UMLS:C0023465|ONCOTREE:AMOL|GARD:0000525|ICDO:9891/3|SCTID:413441006|OMIM:151380|Orphanet:514|MedDRA:10059439|MESH:D007948|CSP:2004-2820|EFO:0000221|UMLS:C1318544|MedDRA:10000871|DOID:8864|ICD10:C92.7|ICD9:206.0|NCIT:C4861 https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia owl:Class MONDO:0004557 biolink:NamedThing congenital fibrosarcoma A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. tmpak2llvmy_mondo_relaxed.owl infantile fibrosarcoma (morphologic abnormality)|infantile fibrosarcoma|IFS|congenital fibrosarcoma|infantile fibrosarcoma (congenital fibrosarcoma) ONCOTREE:IFS|SCTID:403996004|UMLS:C0334459|DOID:8418|ICD9:171.9|NCIT:C4244|ICDO:8814/3 owl:Class MONDO:0002677 biolink:NamedThing conventional fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern. tmpak2llvmy_mondo_relaxed.owl classic fibrosarcoma|conventional fibrosarcoma|classical fibrosarcoma DOID:3517|NCIT:C9429|UMLS:C1333156 owl:Class UBERON:2001089 biolink:NamedThing myoseptum tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007305 biolink:NamedThing cervical vertebral dysplasia tmpak2llvmy_mondo_relaxed.owl cervical vertebral dysplasia (disease)|cervical vertebral dysplasia cervical vertebral dysplasia (disease) HP:0008469|MESH:C566140|UMLS:C1861693|OMIM:118005 owl:Class ENVO:09000018 biolink:NamedThing concentration of nitrogen atom in water The concentration of a nitrogen atom when measured in water. tmpak2llvmy_mondo_relaxed.owl water nitrogen atom concentration owl:Class UBERON:0002111 biolink:NamedThing artery smooth muscle tissue A portion of smooth muscle tissue that is part of an artery [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arterial smooth muscle|arterial smooth muscle cell|artery smooth muscle tissue|smooth muscle of artery|artery smooth muscle owl:Class UBERON:0004695 biolink:NamedThing arterial system smooth muscle A portion of smooth muscle tissue that is part of an arterial system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002540 biolink:NamedThing mesenchymal stem cell of the bone marrow A mesenchymal stem cell that is part of the bone marrow. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T01:47:47Z cell owl:Class MONDO:0011263 biolink:NamedThing skeletal dysplasia and progressive central nervous system degeneration, lethal tmpak2llvmy_mondo_relaxed.owl skeletal dysplasia and progressive central nervous system degeneration, lethal UMLS:C1865117|MESH:C566514|OMIM:602613 owl:Class GO:0045904 biolink:NamedThing negative regulation of translational termination Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. tmpak2llvmy_mondo_relaxed.owl down-regulation of translational termination|inhibition of translational termination|downregulation of translational termination|down regulation of translational termination owl:Class MONDO:0018006 biolink:NamedThing adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. tmpak2llvmy_mondo_relaxed.owl ICD10:G71.0|Orphanet:329478|UMLS:CN204218 owl:Class MONDO:0006658 biolink:NamedThing arteriolosclerosis The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. tmpak2llvmy_mondo_relaxed.owl arteriolosclerosis (morphologic abnormality) UMLS:C0878486|NCIT:C35543|MESH:D050379|ICD10:I70|DOID:5162|EFO:1000819 owl:Class MONDO:0021661 biolink:NamedThing coronary atherosclerosis Atherosclerosis of the coronary vasculature. tmpak2llvmy_mondo_relaxed.owl coronary atherosclerosis|coronary artery arteriosclerosis (disease)|coronary artery arteriosclerosis disorder|atherosclerosis of coronary artery|arteriosclerosis disorder of coronary artery NCIT:C35505|ICD9:414.00|SCTID:443502000 owl:Class MONDO:0056802 biolink:NamedThing synovial bursa disease A disease or disorder that involves the synovial bursa. tmpak2llvmy_mondo_relaxed.owl synovial bursa disease or disorder|disease or disorder of synovial bursa|disease of synovial bursa|disorder of bursa|disorder of synovial bursa SCTID:10597006|UMLS:C0263946 owl:Class MONDO:0022465 biolink:NamedThing anotia facial palsy cardiac defect A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. tmpak2llvmy_mondo_relaxed.owl GARD:0000725 https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect owl:Class GO:2001020 biolink:NamedThing regulation of response to DNA damage stimulus Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. tmpak2llvmy_mondo_relaxed.owl regulation of cellular DNA damage response|regulation of DNA damage response|regulation of cellular response to DNA damage stimulus|regulation of response to genotoxic stress owl:Class GO:0043207 biolink:NamedThing response to external biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001374 biolink:NamedThing bladder sarcoma A malignant mesenchymal cell neoplasm that affects the urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder sarcoma|sarcoma of the bladder|urinary bladder sarcoma|sarcoma of urinary bladder|sarcoma of bladder|sarcoma of the urinary bladder NCIT:C4669|DOID:11812|UMLS:C0349666|SCTID:278046008 owl:Class MONDO:0001187 biolink:NamedThing urinary bladder cancer A primary or metastatic malignant neoplasm involving the bladder. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm, bladder|malignant neoplasm, urinary bladder|malignant tumor of bladder|malignant urinary bladder neoplasm|tumor of the bladder|malignant neoplasm of bladder|urinary bladder cancer|urinary bladder malignant neoplasm|malignant neoplasm of urinary bladder|cancer of urinary bladder|malignant tumor of the urinary bladder|malignant tumor of the bladder|malignant tumor of urinary bladder|malignant bladder tumor|malignant neoplasm of the bladder|urinary bladder malignant tumor|malignant bladder neoplasm|malignant tumor, urinary bladder|malignant urinary bladder tumor|malignant neoplasm of the urinary bladder ICD10:C67.9|DOID:11054|KEGG:05219|ICD9:188.9|UMLS:C0005684|ICD10:C67|NCIT:C9334|ICD9:188|SCTID:399326009|OMIM:109800|ICD9:188.8 owl:Class MONDO:0013450 biolink:NamedThing congenital stationary night blindness 1D Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness 1D autosomal recessive|SLC24A1 congenital stationary night blindness|congenital stationary night blindness type 1D|Csnb, complete, autosomal recessive|CSNB1D|congenital stationary night blindness caused by mutation in SLC24A1|night blindness, congenital stationary, type 1D|congenital stationary night blindness 1D UMLS:C3151193|DOID:0110868|OMIM:613830 owl:Class MONDO:0006990 biolink:NamedThing suppurative uveitis Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. tmpak2llvmy_mondo_relaxed.owl EFO:1001203|MESH:D015829|DOID:13140|UMLS:C0042168 owl:Class UBERON:0001436 biolink:NamedThing phalanx of manus A phalanx that is part of a forelimb autopod[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx of digit of hand|phalanx of hand digit|hand phalanx|phalanges of fore digit|phalanx of finger|digital bone of manus|phalanx of manual digit|digitus manus phalanx|finger phalanx|manual phalanx|phalanx of fore digit|hand digit phalanx|phalanx of digitus manus|phalanx of hand|bone of finger owl:Class MONDO:0017772 biolink:NamedThing oral erosive lichen tmpak2llvmy_mondo_relaxed.owl ICD10:L43.8|Orphanet:31142|UMLS:CN203692 owl:Class MONDO:0023961 biolink:NamedThing visceral neuropathy, familial tmpak2llvmy_mondo_relaxed.owl OMIMPS:243180 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021072 biolink:NamedThing sympathetic paraganglioma A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. tmpak2llvmy_mondo_relaxed.owl chromaffin neoplasm|sympathetic Paraganglionic neoplasm|sympathetic nervous system paraganglioma|paraganglioma of sympathetic nervous system|Chromaffinoma|sympathetic paraganglioma|chromaffin tumor ICDO:8681/1|MESH:C531777|NCIT:C4216|SCTID:399343007 owl:Class MONDO:0004528 biolink:NamedThing lymph node palisaded myofibroblastoma A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading. tmpak2llvmy_mondo_relaxed.owl palisaded myofibroblastoma of lymph node|palisaded myofibroblastoma of the lymph node|palisaded lymph node myofibroblastoma NCIT:C6584|DOID:8304|UMLS:C1335295 owl:Class MONDO:0040675 biolink:NamedThing myofibroblastoma A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. tmpak2llvmy_mondo_relaxed.owl myofibroblastoma ICDO:8825/0|NCIT:C49012 owl:Class MONDO:0007414 biolink:NamedThing Gorham-Stout disease Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. tmpak2llvmy_mondo_relaxed.owl Gorham disease|Gorham syndrome|cystic angiomatosis of bone, diffuse|idiopathic massive osteolysis|vanishing bone disease|cystic angiomatosis of bone diffuse|osteolysis massive|Gorham-Stout disease|osteolysis, massive|progressive massive osteolysis ICD9:733.99|OMIM:123880|MedDRA:10071283|Orphanet:73|GARD:0006542|SCTID:1515008|ICD10:M89.5 owl:Class MONDO:0010031 biolink:NamedThing Sjogren-Larsson syndrome SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. tmpak2llvmy_mondo_relaxed.owl Sjogren Larsson syndrome|Sjogren-Larsson syndrome|SLS|ichthyosis, spastic neurologic disorder, and oligophrenia|fatty alcohol:NAD+ oxidoreductase deficiency|FADH deficiency|Sjogren-Larsson's syndrome|fatty acid alcohol oxidoreductase deficiency|FALDH deficiency|fatty aldehyde dehydrogenase deficiency|Sjögren-Larsson syndrome|FAO deficiency UMLS:C0037231|EFO:0007031|DOID:14501|Orphanet:816|MESH:D016111|OMIM:270200|ICD10:Q87.1|SCTID:111303009|GARD:0007654|NCIT:C85070|MedDRA:10048676 https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome owl:Class UBERON:0007005 biolink:NamedThing cardiogenic splanchnic mesoderm The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. tmpak2llvmy_mondo_relaxed.owl cardiogenic splanchnopleure|heart primordia|cardiac mesoderm|cardiogenic region|cardiogenic mesoderm owl:Class GO:0001667 biolink:NamedThing ameboidal-type cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. tmpak2llvmy_mondo_relaxed.owl ameboid cell migration|amoeboid cell migration|amoeboidal cell migration owl:Class GO:0002704 biolink:NamedThing negative regulation of leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl down regulation of leukocyte mediated immunity|negative regulation of leucocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|down-regulation of leukocyte mediated immunity owl:Class MONDO:0021107 biolink:NamedThing narcolepsy A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. tmpak2llvmy_mondo_relaxed.owl paroxysmal sleep|narcolepsy, without cataplexy|narcolepsy NCIT:C84489|DOID:8986|OMIMPS:161400|ICD9:347.00|MESH:D009290|UMLS:C0027404|SCTID:60380001 owl:Class MONDO:0010873 biolink:NamedThing band heterotopia of brain tmpak2llvmy_mondo_relaxed.owl band heterotopia|band heterotopia of brain|BH UMLS:C1838239|MESH:C563950|OMIM:600348 Editor check: TODO owl:Class MONDO:0025487 biolink:NamedThing murine acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. tmpak2llvmy_mondo_relaxed.owl murine acquired immune deficiency syndrome|murine AIDSs|MAIDS|AIDS, murine|murine acquired immuno deficiency syndrome|murine acquired immuno-deficiency syndrome|murine AIDS MESH:D016183 owl:Class GO:0046579 biolink:NamedThing positive regulation of Ras protein signal transduction Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. tmpak2llvmy_mondo_relaxed.owl up-regulation of Ras protein signal transduction|upregulation of Ras protein signal transduction|up regulation of Ras protein signal transduction|activation of Ras protein signal transduction|stimulation of Ras protein signal transduction owl:Class CHEBI:30436 biolink:NamedThing tetrahydropterin tmpak2llvmy_mondo_relaxed.owl tetrahydropterins|tetrahydropteridines owl:Class CHEBI:26375 biolink:NamedThing pterins tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005980 biolink:NamedThing glycogen catabolic process The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpak2llvmy_mondo_relaxed.owl glycogen breakdown|glycogen degradation|glycogen catabolism|glycogenolysis owl:Class GO:0009251 biolink:NamedThing glucan catabolic process The chemical reactions and pathways resulting in the breakdown of glucans, polysaccharides consisting only of glucose residues. tmpak2llvmy_mondo_relaxed.owl glucan breakdown|glucan catabolism|glucan degradation owl:Class MONDO:0017789 biolink:NamedThing idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. tmpak2llvmy_mondo_relaxed.owl Orphanet:314017|ICD10:H16.3 owl:Class MONDO:0001195 biolink:NamedThing spotted fever A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. tmpak2llvmy_mondo_relaxed.owl spotted fevers|spotted fever rickettsiosis|spotted fever rickettsiae disease|fevers, spotted|spotted fever Group Rickettsioses|spotted fever Group rickettsiosis|spotted fever group rickettsial disease|fever, spotted|spotted fever ICD10:A77|ICD10:A77.0|Orphanet:102022|SCTID:186771002|ICD9:083.8|UMLS:C0038041|ICD10:A77.2|MEDGEN:11567|GARD:0004998|ICD9:082.0|ICD10:A77.9|ICD10:A77.8|ICD10:A77.1|DOID:11104|ICD10:A77.3 https://rarediseases.info.nih.gov/diseases/4998/spotted-fever owl:Class MONDO:0020316 biolink:NamedThing acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy. tmpak2llvmy_mondo_relaxed.owl AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|acute myelomonocytic leukemia|CBFB-MYH11|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829|GARD:0000536|ICD10:C92.5 https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 owl:Class UBERON:0013247 biolink:NamedThing male paramesonephric duct A epithelial tube that develops from a Mullerian duct in a male. Later degenerates. tmpak2llvmy_mondo_relaxed.owl degenerating mesonephric portion of male paramesonephric duct owl:Class GO:0140238 biolink:NamedThing presynaptic endocytosis A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051649 biolink:NamedThing establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpak2llvmy_mondo_relaxed.owl establishment of cellular localization|establishment of intracellular localization|establishment of localisation in cell|establishment of localization within cell|positioning within cell owl:Class MONDO:0002310 biolink:NamedThing anterior dislocation of lens tmpak2llvmy_mondo_relaxed.owl UMLS:C0155372|ICD9:379.33|ICD10:H27.12|SCTID:37283009|DOID:2460 owl:Class MONDO:0001524 biolink:NamedThing globe disease tmpak2llvmy_mondo_relaxed.owl ICD9:360.29|ICD10:H44.39|DOID:1242 Editor note: Consider merging with parent owl:Class MONDO:0009599 biolink:NamedThing metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis mental retardation conductive deafness|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis, conductive hearing loss and intellectual disability MESH:C565396|UMLS:C1855175|OMIM:250420|GARD:0003566|ICD10:Q78.5|Orphanet:2502 https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness owl:Class UBERON:0035131 biolink:NamedThing auditory ossicle cartilage element tmpak2llvmy_mondo_relaxed.owl ossicle cartilage condensation owl:Class UBERON:0011004 biolink:NamedThing pharyngeal arch cartilage A cartilage element that is part of a splanchnocranium. tmpak2llvmy_mondo_relaxed.owl splanchnocranium cartilage|pharyngeal arch cartilages owl:Class MONDO:0018920 biolink:NamedThing peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. tmpak2llvmy_mondo_relaxed.owl postpartum peripartum cardiomyopathy|antepartum peripartum cardiomyopathy|peripartum cardiomyopathy|Meadows' syndrome|postpartum cardiomyopathy ICD10:O90.3|GARD:0000220|Orphanet:563|ICD9:674.5|SCTID:62377009|UMLS:C0269972|EFO:0002628|DOID:9997|MedDRA:10049430|ICD9:674.54 owl:Class MONDO:0016338 biolink:NamedThing non-familial dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl UMLS:CN226906|Orphanet:217629 owl:Class NCBITaxon:34486 biolink:NamedThing Ancylistaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4857 biolink:NamedThing Entomophthorales tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:17572334|PMID:17051209 ncbi_taxonomy owl:Class MONDO:0013705 biolink:NamedThing intellectual disability, autosomal recessive 19 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 19|MRT19|intellectual disability, autosomal recessive 19 OMIM:614343|UMLS:C3280541 owl:Class MONDO:0001199 biolink:NamedThing dislocation of ear ossicle Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity. tmpak2llvmy_mondo_relaxed.owl ossicular dislocation|ossicle chain disruption|ossicle chain discontinuity|dislocation of ear ossicles|dislocation of ossicles|ossicle chain disarticulation SCTID:87040007|ICD9:385.23|DOID:11129 owl:Class HGNC:7500 biolink:NamedThing MT-TV tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020766 biolink:NamedThing neuropathy, congenital hypomyelinating, 3 tmpak2llvmy_mondo_relaxed.owl CHN3|NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 OMIM:618186 owl:Class MONDO:0033352 biolink:NamedThing neuropathy, congenital hypomelinating tmpak2llvmy_mondo_relaxed.owl CHN OMIMPS:605253 owl:Class HGNC:21390 biolink:NamedThing RIPPLY2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0031014 biolink:NamedThing autoimmune gastritis Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. tmpak2llvmy_mondo_relaxed.owl autoimmune gastritis (disease) DOID:0040090|NCIT:C95752 owl:Class GO:0045606 biolink:NamedThing positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. tmpak2llvmy_mondo_relaxed.owl positive regulation of hypodermal cell differentiation|activation of epidermal cell differentiation|upregulation of epidermal cell differentiation|stimulation of epidermal cell differentiation|up-regulation of epidermal cell differentiation|up regulation of epidermal cell differentiation owl:Class GO:0030858 biolink:NamedThing positive regulation of epithelial cell differentiation Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. tmpak2llvmy_mondo_relaxed.owl activation of epithelial cell differentiation|up regulation of epithelial cell differentiation|upregulation of epithelial cell differentiation|up-regulation of epithelial cell differentiation|stimulation of epithelial cell differentiation owl:Class HGNC:11276 biolink:NamedThing SPTBN2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002350 biolink:NamedThing endocardial cell An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin. tmpak2llvmy_mondo_relaxed.owl endothelial cell of endocardium|endocardial endothelial cell FMA:75621 tmeehan 2010-09-21T04:33:05Z CL:1000475 cell owl:Class MONDO:0018594 biolink:NamedThing secondary polyarteritis nodosa Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). tmpak2llvmy_mondo_relaxed.owl secondary periarteritis nodosa|secondary PAN|Scondary PAN ICD10:M30.8|UMLS:CN237624|Orphanet:439746 owl:Class MONDO:0019170 biolink:NamedThing polyarteritis nodosa Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. tmpak2llvmy_mondo_relaxed.owl periarteritis nodosa|Küssmaul-Maier disease|classical polyarteritis nodosa|panarteritis nodosa|classic polyarteritis nodosa|polyarteritis|polyarteritis nodosa|PAN|periarteritis Orphanet:767|MESH:D010488|DOID:9810|MedDRA:10036024|UMLS:C0031036|ICD10:M30.0|GARD:0007360|SCTID:155441006|NCIT:C26847|ICD9:446.0 owl:Class MONDO:0016574 biolink:NamedThing hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl congenital hypomelanotic and hypermelanotic macules|Westerhof Beemer Cormane syndrome|hereditary congenital hypopigmented and hyperpigmented macules|macules hereditary congenital hypopigmented and hyperpigmented|macules, hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome MESH:C537836|SCTID:733469003|Orphanet:2435|GARD:0003347|UMLS:C1835172 https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented owl:Class MONDO:0024547 biolink:NamedThing pancreatic agenesis 1 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. tmpak2llvmy_mondo_relaxed.owl Pagen|pancreatic agenesis 1|PAGEN1|pancreatic agenesis caused by mutation in PDX1|PDX1 pancreatic agenesis|pancreatic hypoplasia, congenital UMLS:C3891828|OMIM:260370 owl:Class MONDO:0009832 biolink:NamedThing pancreatic agenesis Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. tmpak2llvmy_mondo_relaxed.owl pancreatic agenesis 1|PAGEN1|pancreatic agenesis type 1|congenital pancreatic agenesis|partial agenesis of the pancreas|partial pancreatic agenesis MESH:C564908|Orphanet:2805|UMLS:C1850096|SCTID:719044008|DOID:0050877|ICD10:Q45.0|OMIMPS:260370 owl:Class MONDO:0002728 biolink:NamedThing rhabdoid tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl rhabdoid tumor|malignant rhabdoid tumour|rhabdoid cancer|rhabdoid sarcoma|malignant rhabdoid tumor EFO:0005701|Orphanet:69077|ICDO:8963/3|DOID:3672|NCIT:C3808|GARD:0007572|ONCOTREE:MRT|UMLS:C0206743|ICD10:C49.9|MESH:D018335 owl:Class PATO:0001671 biolink:NamedThing increased distribution A distribution which is relatively high. tmpak2llvmy_mondo_relaxed.owl high distribution owl:Class PATO:0001566 biolink:NamedThing distributed A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. tmpak2llvmy_mondo_relaxed.owl scattered|diffuse owl:Class MONDO:0007813 biolink:NamedThing ichthyosis bullosa of Siemens Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. tmpak2llvmy_mondo_relaxed.owl bullous type ichthyosis|ichthyosis bullosa of Siemens|SEI|bullous type of ichthyosis|superficial epidermolytic ichthyosis|IBS|ichthyosis, bullous type|ichthyosis exfoliativa GARD:0002966|OMIM:146800|NCIT:C84777|UMLS:C0432306|SCTID:254169002|Orphanet:455|DOID:0060877|MESH:D053560|ICD10:Q80.8 https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens owl:Class MONDO:0012485 biolink:NamedThing autosomal recessive nonsyndromic deafness 68 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 68|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|autosomal recessive deafness 68|S1PR2 autosomal recessive nonsyndromic deafness|DFNB68|autosomal recessive nonsyndromic deafness type 68|autosomal recessive nonsyndromic deafness 68 OMIM:610419|ICD10:H90.3|UMLS:C1835854|MESH:C563669|DOID:0110519 owl:Class CHEBI:57986 biolink:NamedThing riboflavin(1-) An organic anion that is the conjugate base of riboflavin resulting from the removal of a proton from the nitrogen at position 3 (between the two carbonyl groups). Major microspecies at pH 7.3. tmpak2llvmy_mondo_relaxed.owl 1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|riboflavin|riboflavin anion|vitamin B2(1-) owl:Class CHEBI:176838 biolink:NamedThing vitamin B2 Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms). tmpak2llvmy_mondo_relaxed.owl vitamins B2 vitamers|vitamins B2|vitamins B2 vitamer|vitamin B-2|vitamin B2 owl:Class MONDO:0009050 biolink:NamedThing Cushing disease due to pituitary adenoma Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. tmpak2llvmy_mondo_relaxed.owl pituitary-dependent Cushing syndrome|ACTH producing pituitary adenoma|Corticotropinoma|ACTH-secreting pituitary adenoma|corticotroph pituitary adenoma|pituitary corticotroph micro-adenoma|Cushing's disease|pituitary dependent Cushing syndrome|PITA4|Cushing disease|pituitary adenoma 4, ACTH-secreting|Cushing disease, pituitary|corticotroph adenoma|pituitary adenoma, ACTH-secreting UMLS:C0221406|GARD:0012867|Orphanet:96253|MedDRA:10035109|SCTID:254958004|OMIM:219090|ICD10:E24.0|MESH:D049913|ICD10:D35.2|NCIT:C113210|UMLS:C1306214|DOID:7004 https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma owl:Class MONDO:0003429 biolink:NamedThing functioning pituitary gland adenoma A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl functioning pituitary gland adenoma|functioning adenoma of pituitary gland|endocrine active pituitary adenoma|secretory pituitary gland adenoma|secreting pituitary adenoma|secretory adenoma of pituitary|functioning adenoma of the pituitary gland|secretory adenoma of the pituitary|functioning adenoma of pituitary|secretory adenoma of pituitary gland|functioning pituitary adenoma|secretory pituitary adenoma|secretory adenoma of the pituitary gland|functioning pituitary gland adenoma (benign)|functioning adenoma of the pituitary UMLS:C0854486|NCIT:C8388|Orphanet:314753|DOID:5395 owl:Class MONDO:0015463 biolink:NamedThing craniodigital syndrome-intellectual disability syndrome Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Scott craniodigital syndrome|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome with mental retardation|craniodigital syndrome-intellectual disability, Scott type|craniodigital-intellectual disability syndrome|craniodigital syndrome-mental retardation, Scott type|Scott-Bryant-Graham syndrome|craniodigital syndrome with intellectual disability|Scott craniodigital syndrome with mental retardation|Scott Bryant Graham syndrome SCTID:763665007|ICD10:Q87.0|UMLS:C1839311|MESH:C537528|Orphanet:1514|GARD:0004776 https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome owl:Class MONDO:0024467 biolink:NamedThing apocrine sweat gland disease A disease that involves the apocrine sweat gland. tmpak2llvmy_mondo_relaxed.owl apocrine sweat gland disease|disease of apocrine sweat gland|disease or disorder of apocrine sweat gland|apocrine sweat gland disease or disorder|disorder of apocrine sweat gland ICD10:L75 owl:Class UBERON:0002509 biolink:NamedThing mesenteric lymph node The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group. tmpak2llvmy_mondo_relaxed.owl mesenteric node|nodi lymphoidei mesenterici owl:Class UBERON:0002507 biolink:NamedThing abdominal lymph node A lymph node that is part of an abdomen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl parietal abdominal lymph node|lymph node of abdomen|abdomen lymph node owl:Class ECTO:7000119 biolink:NamedThing exposure to contaminated water A exposure event involving the interaction of an exposure receptor to contaminated water. tmpak2llvmy_mondo_relaxed.owl contaminated water exposure owl:Class MONDO:0001473 biolink:NamedThing medulloadrenal hyperfunction tmpak2llvmy_mondo_relaxed.owl ICD9:255.6|SCTID:111565003|DOID:12257|UMLS:C0154206|ICD10:E27.5 owl:Class MONDO:0012048 biolink:NamedThing endogenous depression Depression which is considered strictly biological. tmpak2llvmy_mondo_relaxed.owl clinical depression|unipolar depression|major depressive disorder|MDD DOID:1595|NCIT:C34532|SCTID:300706003 owl:Class MONDO:0032725 biolink:NamedThing developmental and epileptic encephalopathy, 74 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74|DEE74|EIEE74 OMIM:618396 owl:Class MONDO:0016290 biolink:NamedThing Hernández-Aguirre Negrete syndrome A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability|intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild mental retardation SCTID:721146009|ICD10:Q87.8|GARD:0003491|MONDO:0022314|MESH:C538112|Orphanet:2139 https://github.com/monarch-initiative/mondo/issues/3597 owl:Class HGNC:21246 biolink:NamedThing PNPLA1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051447 biolink:NamedThing negative regulation of meiotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl negative regulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|downregulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle|inhibition of progression through meiotic cell cycle|negative regulation of meiotic cell cycle progression owl:Class GO:0045786 biolink:NamedThing negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. tmpak2llvmy_mondo_relaxed.owl negative regulation of progression through cell cycle|downregulation of progression through cell cycle|down regulation of progression through cell cycle|down-regulation of progression through cell cycle|negative regulation of cell cycle progression|inhibition of progression through cell cycle owl:Class MONDO:0100339 biolink:NamedThing Friedreich ataxia An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. tmpak2llvmy_mondo_relaxed.owl Friedreich's tabes|Friedreich ataxia|hereditary spinal sclerosis|hereditary spinal ataxia|FA|Friedreich ataxia with retained reflexes|Friedreich's ataxia|FRDA|spinocerebellar ataxia, Friedreich MESH:D005621|Orphanet:95|SCTID:10394003|NCIT:C84718|GARD:0006468|ICD9:334.0|UMLS:C0016719|MedDRA:10017374|DOID:12705|ICD10:G11.1 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia owl:Class MONDO:0015206 biolink:NamedThing short stature-heart defect-craniofacial anomalies syndrome tmpak2llvmy_mondo_relaxed.owl short stature heart defect and craniofacial anomalies|Rommen Mueller Sybert syndrome|Rommen-Mueller-Sybert syndrome UMLS:C2931050|MESH:C535871|Orphanet:1088|ICD10:Q87.1|GARD:0004739 owl:Class MONDO:0015160 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl MCA/variable MR|multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome Orphanet:102284 owl:Class MONDO:0009927 biolink:NamedThing 3MC syndrome 2 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. tmpak2llvmy_mondo_relaxed.owl 3Mc syndrome type 2|ptosis of eyelids with diastasis recti and hip dysplasia|Osa syndrome|3MC syndrome type 2|3MC syndrome 2|3MC syndrome caused by mutation in COLEC11|COLEC11 3MC syndrome|Carnevale syndrome|3MC2|oculo-skeletal-abdominal syndrome|Carnevale syndrome, formerly Orphanet:2998|OMIM:265050|EFO:1001977|MESH:C535586|DOID:0060576 owl:Class GO:0015980 biolink:NamedThing energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. tmpak2llvmy_mondo_relaxed.owl chemoorganotrophy owl:Class MONDO:0005752 biolink:NamedThing epidural abscess Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) tmpak2llvmy_mondo_relaxed.owl extradural intraspinal abscess|intraspinal epidural abscess|spinal extradural abscess|intraspinal extradural abscess|spinal epidural abscess|spinal epidural abscess (disorder)|abscess epidural EFO:0007260|DOID:11387|SCTID:61974008|MESH:D020802|UMLS:C0270629 owl:Class MONDO:0700060 biolink:NamedThing leukemia, acute, X-linked X-linked form of acute leukemia tmpak2llvmy_mondo_relaxed.owl OMIM:308960 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010643 biolink:NamedThing acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). tmpak2llvmy_mondo_relaxed.owl stem cell leukaemia|leukemia, acute, X-linked|stem cell leukemia|acute leukemia|acute leukemia (disease)|stem cell leukemia (disease) ICD10:C95.00|ICD9:208.0|MESH:C564112|ICD9:208.00|DOID:12603|HP:0002488|NCIT:C9300|ICDO:9801/3|SCTID:91855006|ICD10:C95.0|EFO:1000068 owl:Class CL:0000173 biolink:NamedThing pancreatic D cell A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin. tmpak2llvmy_mondo_relaxed.owl delta cell of islet|pancreatic D-cell|delta cell of pancreatic islet|D-cell of pancreatic islet|pancreatic delta cell|somatostatin-secreting pancreatic cell BTO:0000803|FMA:70587 cell owl:Class CL:0008024 biolink:NamedThing pancreatic endocrine cell An endocrine cell that is part of the pancreas. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:1905636 biolink:NamedThing positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpak2llvmy_mondo_relaxed.owl up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class GO:1903025 biolink:NamedThing regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044768 biolink:NamedThing vagus nerve paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. tmpak2llvmy_mondo_relaxed.owl vagal body paraganglioma|paraganglioma of the vagal body|paraganglioma of vagal body|vagus nerve paraganglioma|paraganglioma of vagus nerve|paraganglioma of the vagus nerve|vagal paraganglioma UMLS:CN036786|NCIT:C8427|EFO:1000621|GARD:0008620|SCTID:253030004 owl:Class GO:0099569 biolink:NamedThing presynaptic cytoskeleton The portion of the cytoskeleton contained within the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005856 biolink:NamedThing cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007105 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. tmpak2llvmy_mondo_relaxed.owl FTDMND|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|frontotemporal dementia and/or amyotrophic lateral sclerosis|FTDALS1|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia and/or motor neuron disease|ALSFTD|C9ORF72 frontotemporal dementia with motor neuron disease|amyotrophic lateral sclerosis and/or frontotemporal dementia|C9orf72 frontotemporal dementia with motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72 OMIM:105550|UMLS:C1862937|DOID:0060213 owl:Class CHEBI:52396 biolink:NamedThing alpha-oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. tmpak2llvmy_mondo_relaxed.owl alpha-oxyketones owl:Class CHEBI:52395 biolink:NamedThing oxyketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. tmpak2llvmy_mondo_relaxed.owl oxyketones owl:Class MONDO:0024889 biolink:NamedThing benign mesonephroma A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpak2llvmy_mondo_relaxed.owl benign mesonephric neoplasm|Mesonephroma, benign (morphologic abnormality)|Mesonephroma, benign|mesonephric neoplasm, benign|mesonephric duct adenoma|mesonephric adenoma|Wolffian duct adenoma|benign Mesonephroma ICDO:9110/0|DOID:2616|NCIT:C4294|UMLS:C0334530 owl:Class MONDO:0010057 biolink:NamedThing spinal muscular atrophy, Ryukyuan type tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy Ryukyuan type|spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy UMLS:C1849102|MESH:C536881|GARD:0009646|OMIM:271200 https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type owl:Class MONDO:0013664 biolink:NamedThing 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency tmpak2llvmy_mondo_relaxed.owl male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46,XY sex reversal type 8|SRXY8|46,XY sex reversal 8 SCTID:49013001|MESH:C564109|UMLS:C1839840|ICD10:E29.1|DOID:0111773|OMIM:614279|Orphanet:443087 owl:Class MONDO:0013068 biolink:NamedThing age-related hearing impairment 2 tmpak2llvmy_mondo_relaxed.owl age-related hearing impairment 2|ARHI2|presbycusis 2 MESH:C567834|UMLS:C2751814|OMIM:612976 owl:Class MONDO:0005562 biolink:NamedThing age-related hearing impairment Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. tmpak2llvmy_mondo_relaxed.owl ARHI EFO:0005782 Editor note: check classification sensorineural vs conductive owl:Class NCBITaxon:445 biolink:NamedThing Legionella tmpak2llvmy_mondo_relaxed.owl PMID:434652|PMID:8573522|GC_ID:11|PMID:9734026|PMID:16166707 NCBITaxon:29550 ncbi_taxonomy owl:Class NCBITaxon:444 biolink:NamedThing Legionellaceae tmpak2llvmy_mondo_relaxed.owl PMID:434652|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0012246 biolink:NamedThing thyroid follicular lumen A follicular lumen is the closed cavity within a follicle of the thyroid gland. It is surrounded by follicular cells and filled with colloid, a concentrated solution of thyroglobulin tmpak2llvmy_mondo_relaxed.owl thyroid follicle lumen|lumen of thyroid follicle|thyroid follicular space|follicular lumen owl:Class UBERON:0005425 biolink:NamedThing presumptive neural retina Portion of tissue that is the inner layer of the optic cup and will become the neural retina. tmpak2llvmy_mondo_relaxed.owl future neural retina|optic cup inner layer|future NR|future neural layer|future retinal neural layer|presumptive retina|inner layer optic cup|future neural epithelium|presumptive retinas owl:Class UBERON:0035316 biolink:NamedThing prostatic capsule The membrane the surrounds the prostate gland. tmpak2llvmy_mondo_relaxed.owl capsule of prostate|capsule of prostate gland owl:Class MONDO:0030937 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 3 tmpak2llvmy_mondo_relaxed.owl MC2DN3|mitochondrial complex 2 deficiency, nuclear type 3 OMIM:619167 owl:Class MONDO:0031230 biolink:NamedThing mitochondrial complex II deficiency, nuclear type tmpak2llvmy_mondo_relaxed.owl OMIMPS:252011 http://orcid.org/0000-0001-5208-3432 owl:Class GO:1905821 biolink:NamedThing positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation. tmpak2llvmy_mondo_relaxed.owl activation of nuclear chromosome condensation|up regulation of chromosome condensation|upregulation of chromosome condensation|activation of eukaryotic chromosome condensation|up-regulation of chromosome condensation|up-regulation of nuclear chromosome condensation|up regulation of nuclear chromosome condensation|upregulation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation|upregulation of eukaryotic chromosome condensation|up-regulation of eukaryotic chromosome condensation|up regulation of eukaryotic chromosome condensation owl:Class UBERON:0000211 biolink:NamedThing ligament Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. tmpak2llvmy_mondo_relaxed.owl ligament organ owl:Class MONDO:0024477 biolink:NamedThing liver and intrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. tmpak2llvmy_mondo_relaxed.owl liver and intrahepatic bile duct neoplasm|hepatic and intrahepatic bile duct neoplasm UMLS:C1333976|NCIT:C7103 owl:Class UBERON:0004835 biolink:NamedThing epididymis smooth muscle A portion of smooth muscle tissue that is part of a epididymis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of epididymis|non-striated muscle of epididymis|epididymis smooth muscle tissue|smooth muscle of epididymis|epididymis non-striated muscle|epididymis involuntary muscle|smooth muscle tissue of epididymis owl:Class GO:0005246 biolink:NamedThing calcium channel regulator activity Modulates the activity of a calcium channel. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099106 biolink:NamedThing ion channel regulator activity Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011142 biolink:NamedThing axial ossicle Ossicle that is part of the axial skeleton. tmpak2llvmy_mondo_relaxed.owl vertebral ossicle|ossicle of axial skeleton|ossicle of postcranial-axial skeleton owl:Class MONDO:0044331 biolink:NamedThing genetic transient congenital hypothyroidism An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary transient congenital hypothyroidism ICD10:P72.2|Orphanet:226316 owl:Class MONDO:0017640 biolink:NamedThing cyanide-induced parkinsonism Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. tmpak2llvmy_mondo_relaxed.owl UMLS:CN203536|ICD10:G21.2|SCTID:766872002|Orphanet:306692 owl:Class MONDO:0021095 biolink:NamedThing parkinsonian disorder A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. tmpak2llvmy_mondo_relaxed.owl MESH:D020734 Editor note: TODO owl:Class MONDO:0007972 biolink:NamedThing Meniere disease A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. tmpak2llvmy_mondo_relaxed.owl Mnire's vertigo|Meniere disease|otogenic vertigo|Meniere's disease ICD10:H81.0|ICD10:H81.09|UMLS:C0025281|SCTID:13445001|MESH:D008575|ICD9:386.00|OMIM:156000|DOID:9849|EFO:0006862|ICD9:386.0 owl:Class MONDO:0006744 biolink:NamedThing endolymphatic hydrops An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. tmpak2llvmy_mondo_relaxed.owl labyrinthine hydrops UMLS:C0206586|MedDRA:10049934|ICD10:H81.0|ICD9:386.8|DOID:9848|SCTID:27621000119100|EFO:1000918|MESH:D018159 owl:Class MONDO:0021948 biolink:NamedThing cutaneous tuberculosis tmpak2llvmy_mondo_relaxed.owl tuberculoderma|Tuberculoses, Cutaneous|Cutaneous Tuberculoses|Tuberculoses, Skin|tuberculosis cutis|Tuberculosis of skin|Cutaneous Tuberculosis|Tuberculoderma|Tuberculosis cutis|tuberculosis of skin|cutaneous tuberculosis|Tuberculosis, Cutaneous|Tuberculosis, Skin|Cutaneous tuberculosis|Skin Tuberculosis|Skin Tuberculoses SCTID:66986005|UMLS:C0041309|EFO:1001443 owl:Class MONDO:0024295 biolink:NamedThing skin disease caused by bacterial infection Skin diseases caused by bacteria. tmpak2llvmy_mondo_relaxed.owl skin disease, bacterial|bacterial skin diseases|Bacteria caused skin disease caused by infection|diseases, bacterial skin|bacterial skin disease|disease, bacterial skin|Bacteria skin disease caused by infection MESH:D017192 owl:Class UBERON:0014543 biolink:NamedThing lumbar division of spinal cord central canal Part of central canal lying within the lumbar spinal cord. It is continuous rostrally with the central canal of the thoracic spinal cord and caudally with the central canal of the sacral spinal cord. tmpak2llvmy_mondo_relaxed.owl lumbar spinal cord central canal owl:Class GO:0019852 biolink:NamedThing L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. tmpak2llvmy_mondo_relaxed.owl vitamin C metabolism|L-ascorbic acid metabolism|ascorbate metabolic process|vitamin C metabolic process|ascorbate metabolism owl:Class GO:0002430 biolink:NamedThing complement receptor mediated signaling pathway A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway. tmpak2llvmy_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway|complement receptor mediated signalling pathway owl:Class GO:0002429 biolink:NamedThing immune response-activating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response. tmpak2llvmy_mondo_relaxed.owl immune response-activating cell surface receptor signalling pathway|activation of immune response by cell surface receptor signaling pathway owl:Class MONDO:0012837 biolink:NamedThing inflammatory bowel disease 15 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 15|inflammatory bowel disease 15|IBD15 MESH:C567381|OMIM:612255|DOID:0110897|UMLS:C2677094 owl:Class MONDO:0008673 biolink:NamedThing acrofacial dysostosis, Weyers type Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. tmpak2llvmy_mondo_relaxed.owl Weyers acrofacial dysostosis|curry-Hall syndrome|wad|acrodental dysostosis of Weyers|acrofacial dysostosis of Weyers|curry Hall syndrome|Weyers acrodental dysostosis GARD:0000497|DOID:0111571|ICD9:520.8|Orphanet:952|SCTID:277807007|ICD10:Q75.4|UMLS:C0457013|MESH:C536695|OMIM:193530 owl:Class MONDO:0014927 biolink:NamedThing Joubert syndrome 27 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 27|Joubert syndrome caused by mutation in B9D1|B9D1 Joubert syndrome|Joubert syndrome type 27|JBTS27 DOID:0110996|UMLS:C4310706|OMIM:617120 owl:Class MONDO:0013563 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 1 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. tmpak2llvmy_mondo_relaxed.owl PIGN-CDG|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies - hypotonia - seizures syndrome|multiple congenital anomalies-hypotonia-seizures syndrome 1|multiple congenital anomalies-hypotonia-seizures syndrome|congenital disorder of glycosylation due to PIGN deficiency|glycosylphosphatidylinositol biosynthesis defect 3|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|multiple congenital anomalies-hypotonia-seizures syndrome type 1|MCAHS1 OMIM:614080|DOID:0080138|UMLS:C3279775|ICD10:Q87.8|Orphanet:280633|GARD:0012781 owl:Class CHEBI:25741 biolink:NamedThing oxide An oxide is a chemical compound of oxygen with other chemical elements. tmpak2llvmy_mondo_relaxed.owl oxides|oxide owl:Class UBERON:0000005 biolink:NamedThing chemosensory organ tmpak2llvmy_mondo_relaxed.owl chemosensory sensory organ owl:Class MONDO:0005627 biolink:NamedThing head and neck cancer A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpak2llvmy_mondo_relaxed.owl head and neck neoplasm|cancer of the head and neck|malignant craniocervical region neoplasm|cancer of craniocervical region|malignant tumor of head and neck|craniocervical region cancer|cancer of head and neck|head/neck neoplasm|malignant head and neck neoplasm|head and neck tumours|malignant neoplasm of craniocervical region|malignant neoplasm of head and neck|head and neck malignant neoplasia|head and neck cancer|malignant head and neck tumor|malignant tumor of the head and neck|malignant neoplasm of the head and neck EFO:0006859|DOID:11934|UMLS:C0278996|NCIT:C4013 owl:Class MONDO:0005441 biolink:NamedThing otitis media Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. tmpak2llvmy_mondo_relaxed.owl inflammation of middle ear|otitis Media|middle Ear Inflammation|otitis media (disease)|middle ear inflammation|medial otitis otitis media (disease) EFO:0004992|ICD10:H66.9|ICD10:H66.90|ICD9:382.9|DOID:10754|MESH:D010033|HP:0000388|UMLS:C0029882|NCIT:C34885|SCTID:65363002 owl:Class MONDO:0016864 biolink:NamedThing Okihiro syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl Duane-radial ray syndrome due to a point mutation Orphanet:261647|UMLS:CN202209|ICD10:Q87.8 owl:Class MONDO:0011812 biolink:NamedThing Duane-radial ray syndrome A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Duane-radial ray syndrome|DR syndrome|Okihiro syndrome|acro-renal-ocular syndrome|DRRS|Duane anomaly with radial ray abnormalities and deafness|Duane anomaly with radial abnormalities and deafness|acrorenocular syndrome ICD9:759.89|UMLS:CN206803|Orphanet:959|SCTID:720415006|SCTID:699867001|GARD:0009182|OMIM:607323|DOID:0060747|ICD10:Q87.8|Orphanet:93293 https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome owl:Class GO:0046873 biolink:NamedThing metal ion transmembrane transporter activity Enables the transfer of metal ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl heavy metal ion transporter activity|heavy metal ion porter activity|heavy metal ion:hydrogen symporter activity|heavy metal-exporting ATPase activity|high affinity metal ion uptake transporter activity|low affinity metal ion uptake transporter activity owl:Class MONDO:0033638 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 8 tmpak2llvmy_mondo_relaxed.owl MC4DN8 OMIM:619052 owl:Class UBERON:0003280 biolink:NamedThing endothelium of main bronchus An endothelium that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl principal bronchus endothelium|bronchus principalis endothelium|endothelium of principal bronchus|primary bronchus endothelium|endothelium of bronchus principalis|endothelium of primary bronchus|main bronchus endothelium owl:Class MONDO:0010557 biolink:NamedThing choroideremia Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. tmpak2llvmy_mondo_relaxed.owl TCD|Tapetochoroidal dystrophy|progressive choroidal atrophy|choroideremia|choroidal sclerosis|progressive tapetochoroidal dystrophy|Tapetochoroidal dystrophy, progressive|CHM GARD:0006061|ICD10:H31.21|MESH:D015794|OMIM:303100|UMLS:C0008525|MedDRA:10008791|ICD9:363.55|Orphanet:180|DOID:9821|SCTID:75241009|ICD10:H31.2|NCIT:C34469 https://rarediseases.info.nih.gov/diseases/6061/choroideremia owl:Class MONDO:0021960 biolink:NamedThing ureteritis An acute or chronic inflammatory process affecting the ureter. tmpak2llvmy_mondo_relaxed.owl Inflammation of ureter|Ureteritis|ureteritis NCIT:C78666|SCTID:111405003|UMLS:C0041959 owl:Class MONDO:0019159 biolink:NamedThing Loeffler endocarditis Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. tmpak2llvmy_mondo_relaxed.owl eosinophilic endocarditis|eosinophilic endomyocardial disease SCTID:449829009|Orphanet:75566|NCIT:C27044|DOID:396|ICD10:I42.3|MedDRA:10052841 owl:Class GO:1903296 biolink:NamedThing positive regulation of glutamate secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl up regulation of glutamate secretion, neurotransmission|up-regulation of glutamate secretion, neurotransmission|upregulation of glutamate secretion, neurotransmission|activation of glutamate secretion, neurotransmission owl:Class GO:0051968 biolink:NamedThing positive regulation of synaptic transmission, glutamatergic Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpak2llvmy_mondo_relaxed.owl activation of synaptic transmission, glutamatergic|stimulation of synaptic transmission, glutamatergic|up regulation of synaptic transmission, glutamatergic|upregulation of synaptic transmission, glutamatergic|up-regulation of synaptic transmission, glutamatergic owl:Class MONDO:0024654 biolink:NamedThing skull disorder A non-neoplastic or neoplastic disorder that affects structures of the skull. tmpak2llvmy_mondo_relaxed.owl skull disease or disorder|disorder of skull|skull disorder|disease or disorder of skull|skull disease|disease of skull UMLS:C1290854|SCTID:118945008|NCIT:C27655 owl:Class MONDO:0014078 biolink:NamedThing platelet-type bleeding disorder 15 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene. tmpak2llvmy_mondo_relaxed.owl macrothrombocytopenia, autosomal dominant, ACTN1-related|ACTN1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|bleeding disorder, platelet-type, 15|BDPLT15|platelet-type bleeding disorder 15|autosomal dominant macrothrombocytopenia ACTN1-related OMIM:615193|UMLS:C3554663|DOID:0111053 owl:Class HGNC:2661 biolink:NamedThing DAB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014752 biolink:NamedThing nephrotic syndrome, type 11 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. tmpak2llvmy_mondo_relaxed.owl familial nephrotic syndrome caused by mutation in Nup107|NPHS11|familial nephrotic syndrome caused by mutation in NUP107|Nup107 familial nephrotic syndrome|nephrotic syndrome, type 11|nephrotic syndrome, type 11; NPHS11|NUP107 familial nephrotic syndrome DOID:0080385|UMLS:C4225228|OMIM:616730 owl:Class MONDO:0018134 biolink:NamedThing disorder of melanin metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:CN227269|Orphanet:352728 owl:Class MONDO:0006086 biolink:NamedThing angiomyxoma A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. tmpak2llvmy_mondo_relaxed.owl NCIT:C3254|EFO:1000087|ICD9:215.9|ICDO:8841/1|UMLS:C0027149|ICDO:8841/0|SCTID:404083008|MESH:D009232 owl:Class HGNC:19027 biolink:NamedThing LRRC8A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005977 biolink:NamedThing glycogen metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. tmpak2llvmy_mondo_relaxed.owl glycogen metabolism owl:Class GO:0006073 biolink:NamedThing cellular glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl cellular glucan metabolism owl:Class MONDO:0004508 biolink:NamedThing periapical periodontitis Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. tmpak2llvmy_mondo_relaxed.owl apical periodontitis UMLS:C0031030|SCTID:39273001|DOID:823|EFO:1001391|ICD10:K04.5|MESH:D010485 owl:Class MONDO:0012867 biolink:NamedThing hereditary spastic paraplegia 38 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 38|spastic paraplegia 38, autosomal dominant|SPG38|autosomal dominant spastic paraplegia 38|autosomal dominant spastic paraplegia type 38 OMIM:612335|UMLS:C2676732|Orphanet:171617|ICD10:G11.4|MESH:C567349|DOID:0110789 owl:Class MONDO:0015087 biolink:NamedThing autosomal dominant complex spastic paraplegia Autosomal dominant form of complex hereditary spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl autosomal dominant complicated HSP|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complicated SPG|autosomal dominant complex SPG|autosomal dominant complicated spastic paraplegia|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complex HSP Orphanet:100979|UMLS:CN226593|ICD10:G11.4 owl:Class HGNC:6010 biolink:NamedThing IL2RG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006115 biolink:NamedThing blast phase chronic myelogenous leukemia, BCR-ABL1 positive An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). tmpak2llvmy_mondo_relaxed.owl blast phase chronic myeloid leukemia|blast crisis|blastic phase chronic myelogenous leukemia|blast phase CML|blast phase|blast phase chronic granulocytic leukemia|blastic phase CML|blast phases|blastic phase chronic myelocytic leukemia|crisis, blast|phases, blast|blast crises|blastic phase chronic myeloid leukemia|blastic phase chronic granulocytic leukemia|blast phase chronic myelocytic leukemia|crises, blast|blast phase chronic myelogenous leukemia|phase, blast UMLS:C0005699|EFO:1000131|SCTID:413656006|NCIT:C9110|MESH:D001752 owl:Class MONDO:0011996 biolink:NamedThing chronic myelogenous leukemia, BCR-ABL1 positive A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. tmpak2llvmy_mondo_relaxed.owl CML - chronic myelogenous leukemia|chronic myelocytic leukemia|chronic myelogenous leukemia (CML)|leukemia, chronic myeloid|myeloid leukemia, chronic|chronic myeloid leukemia|chronic myelogenous leukemia|chronic myelogenous leukemia, BCR-ABL1 Positive|CML|BCR-ABL Positive chronic myelogenous leukemia|leukemia, chronic myeloid, atypical|hematopoeitic - chronic myelocytic leukemia (CML)|leukemia, chronic myelogenous|chronic granulocytic leukemia|chronic myelogenous leukemias KEGG:05220|ICD10:C92.1|ICD9:205.1|ICDO:9875/3|OMIM:608232|ONCOTREE:CML|DOID:8552|EFO:0000339|MedDRA:10009013|Orphanet:521|NCIT:C3174|ICDO:9863/3|UMLS:C0023473|GARD:0006105 owl:Class GO:0045983 biolink:NamedThing positive regulation of purine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. tmpak2llvmy_mondo_relaxed.owl up-regulation of purine base metabolic process|up regulation of purine base metabolic process|stimulation of purine base metabolic process|positive regulation of purine base metabolism|activation of purine base metabolic process|positive regulation of purine base metabolic process|upregulation of purine base metabolic process owl:Class MONDO:0004198 biolink:NamedThing testicular yolk sac tumor, solid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl solid pattern testicular yolk sac tumor|testicular yolk sac tumor, solid pattern NCIT:C39925|DOID:7360|UMLS:C1515312 owl:Class UBERON:0004704 biolink:NamedThing bone fossa A depression or hollow in a bone[WP]. tmpak2llvmy_mondo_relaxed.owl concavities|fossae|concavity|fossa|groove|depression|depressions owl:Class MONDO:0016566 biolink:NamedThing loiasis Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. tmpak2llvmy_mondo_relaxed.owl African eye worm|Loa loa filariasis DOID:13523|UMLS:C0023968|Orphanet:2404|ICD9:125.2|EFO:1000729|ICD10:B74.3|NCIT:C34784|GARD:0003283|SCTID:44250009|MESH:D008118|MedDRA:10024797 https://rarediseases.info.nih.gov/diseases/3283/loiasis owl:Class MONDO:0016075 biolink:NamedThing filariasis A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. tmpak2llvmy_mondo_relaxed.owl disease due to superfamily Filarioidea ICD10:B74.3|UMLS:C0016085|MESH:D005368|ICD10:B74.9|ICD10:B74|SCTID:105706003|MedDRA:10016674|ICD10:B74.0|Orphanet:2034|ICD10:B74.8|ICD10:B74.4|NCIT:C34611|ICD10:B74.2|ICD10:B74.1|DOID:1080|ICD9:125.9 owl:Class CL:0000766 biolink:NamedThing myeloid leukocyte A cell of the monocyte, granulocyte, or mast cell lineage. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0000919 biolink:NamedThing ampulla of vater cancer A primary or metastatic malignant neoplasm involving the ampulla of Vater. tmpak2llvmy_mondo_relaxed.owl malignant tumor of ampulla of Vater|malignant neoplasm of hepatopancreatic ampulla|malignant tumor of the ampulla of Vater|malignant ampulla of Vater neoplasm|cancer of hepatopancreatic ampulla|malignant hepatopancreatic ampulla neoplasm|malignant neoplasm of ampulla of Vater|malignant tumour of ampulla of vater|malignant neoplasm of the ampulla of Vater|malignant ampulla of Vater tumor|hepatopancreatic ampulla cancer NCIT:C3536|DOID:10020|ICD10:C24.1|SCTID:363417006|ICD9:156.2|UMLS:C0153454 owl:Class MONDO:0000921 biolink:NamedThing ampulla of vater neoplasm A benign or malignant neoplasm involving the ampulla of Vater. tmpak2llvmy_mondo_relaxed.owl ampulla of Vater tumor|hepatopancreatic ampulla tumor|neoplasm of hepatopancreatic ampulla|tumor of the ampulla of Vater|hepatopancreatic ampulla neoplasm|AMPULLAOFVATER|neoplasm of ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|neoplasm of the ampulla of Vater|tumor of hepatopancreatic ampulla|tumor of ampulla of Vater ONCOTREE:AMPULLAOFVATER|UMLS:C0345916|SCTID:126858004|DOID:10022|NCIT:C4443 owl:Class UBERON:0001606 biolink:NamedThing muscle of iris . tmpak2llvmy_mondo_relaxed.owl iris muscle organ|iris muscle|muscle organ of iris owl:Class UBERON:0011222 biolink:NamedThing intra-ocular muscle tmpak2llvmy_mondo_relaxed.owl intrinsic ocular muscle|intrinsic muscle of eyeball owl:Class MONDO:0005061 biolink:NamedThing lung adenocarcinoma A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. tmpak2llvmy_mondo_relaxed.owl bronchogenic lung adenocarcinoma|nonsmall cell adenocarcinoma|adenocarcinoma of the lung|non-small cell lung adenocarcinoma|lung adenocarcinoma|adenocarcinoma of lung DOID:3910|NCIT:C3512|UMLS:C0152013|SCTID:254626006|EFO:0005288|GARD:0005742|MESH:C538231|EFO:0000571|ONCOTREE:LUAD https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma owl:Class UBERON:0034720 biolink:NamedThing head taste bud A taste bud that is located on the skin of the head. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002529 biolink:NamedThing limb segment A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. tmpak2llvmy_mondo_relaxed.owl segment of limb|extremity part|region of limb|limb region|free limb segment|subdivision of limb owl:Class GO:0060429 biolink:NamedThing epithelium development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006882 biolink:NamedThing orchitis Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. tmpak2llvmy_mondo_relaxed.owl orchitis|testis inflammation|inflammation of testis|Inflammation of testis|orchitis (disease)|Orchititis|testisitis orchitis (disease) UMLS:C0029191|EFO:1001078|SCTID:274718005|ICD10:N45.2|HP:0100796|MedDRA:10031064|MESH:D009920|DOID:2518|NCIT:C97145 owl:Class HGNC:6819 biolink:NamedThing MALT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005605 biolink:NamedThing transitional cell papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. tmpak2llvmy_mondo_relaxed.owl papilloma, transitional cell, benign|transitional papilloma|transitional cell papilloma, benign|transitional cell papilloma NOS (morphologic abnormality)|transitional cell papilloma, benign (morphologic abnormality)|transitional cell papilloma EFO:0006497|DOID:2670|ICDO:8120/0|NCIT:C4115|UMLS:C0334266 owl:Class OBO:CHR_9606-chr17p biolink:NamedThing chr17p (Human) tmpak2llvmy_mondo_relaxed.owl 25100000 0 hg38 owl:Class MONDO:0015542 biolink:NamedThing secondary hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpak2llvmy_mondo_relaxed.owl acquired hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis|reactive hemophagocytic syndrome UMLS:CN199700|Orphanet:158041|UMLS:C0019068|UMLS:C4054044|NCIT:C121184 owl:Class MONDO:0007084 biolink:NamedThing familial focal alopecia tmpak2llvmy_mondo_relaxed.owl alopecia, familial focal|ALPF UMLS:C1863092|MESH:C566301|OMIM:104110 owl:Class MONDO:0000005 biolink:NamedThing alopecia, isolated tmpak2llvmy_mondo_relaxed.owl OMIMPS:203655 owl:Class HP:0003117 biolink:NamedThing Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormal circulating hormone level|Abnormality of circulating hormone level UMLS:C4025652 human_phenotype owl:Class MONDO:0008359 biolink:NamedThing radio-renal syndrome Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl radio renal syndrome|radial-renal syndrome Orphanet:3015|GARD:0000224|SCTID:766765009|OMIM:179280|UMLS:C2931146|MESH:C536267 https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome owl:Class MONDO:0024457 biolink:NamedThing neurodegeneration with brain iron accumulation 2A tmpak2llvmy_mondo_relaxed.owl infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|neurodegeneration, Pla2g6-associated|phospholipase A2-associated neurodegeneration|Hunter Carpenter Macdonald syndrome|neurodegeneration, Pla2G6-associated|KARAK syndrome, included|neurodegeneration with brain iron accumulation 2A|neurodegeneration with brain iron accumulation type 2A|neuroaxonal dystrophy, infantile|Seitelberger disease|neurodegeneration, PLA2G6-associated|PLAN|Hunter-Carpenter-McDonald syndrome|infantile neuroaxonal dystrophy|infantile neuroaxonal dystrophy 1|inaD|NBIA2A|INAD1|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|neurodegeneration with brain iron accumulation type 2a MESH:C536071|GARD:0002751|ICD10:G23.0|DOID:0110735|OMIM:256600|Orphanet:35069|SCTID:52713000|NCIT:C84927|GARD:0003957|ICD9:330.8 AR PLA2G6 https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome owl:Class MONDO:0017998 biolink:NamedThing PLA2G6-associated neurodegeneration Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene. tmpak2llvmy_mondo_relaxed.owl PLA2G6 neurodegeneration with brain iron accumulation|PLAN|neurodegeneration with brain iron accumulation caused by mutation in PLA2G6 ICD10:G23.0|GARD:0012567|Orphanet:329303 owl:Class CHEBI:39000 biolink:NamedThing sodium channel modulator tmpak2llvmy_mondo_relaxed.owl sodium channel modulators owl:Class CHEBI:38632 biolink:NamedThing membrane transport modulator Any agent that affects the transport of molecular entities across a biological membrane. tmpak2llvmy_mondo_relaxed.owl membrane transport modulators owl:Class UBERON:0003957 biolink:NamedThing Bruch's membrane A transparent, nearly structureless innermost layer of the choroid in contact with the pigmented layer of the retina. tmpak2llvmy_mondo_relaxed.owl Bruch membrane|lamina basilis|vitreous lamina|lamina choroideae basalis|Bruch's basal membrane|lamina basalis (choroid)|basal lamina of choroid owl:Class HGNC:9577 biolink:NamedThing PSPH tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033343 biolink:NamedThing positive regulation of collagen binding Any process that activates or increases the frequency, rate or extent of collagen binding. tmpak2llvmy_mondo_relaxed.owl up-regulation of collagen binding|upregulation of collagen binding|activation of collagen binding|up regulation of collagen binding|stimulation of collagen binding owl:Class MONDO:0019645 biolink:NamedThing renal dysplasia, bilateral Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpak2llvmy_mondo_relaxed.owl bilateral renal dysplasia SCTID:204950001|ICD10:Q61.4|HP:0012582|Orphanet:93173 owl:Class MONDO:0019638 biolink:NamedThing renal dysplasia Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. tmpak2llvmy_mondo_relaxed.owl renal dysplasia (disease)|renal dysplasia renal dysplasia (disease) HP:0000110|ICD10:Q61.4|Orphanet:93108 owl:Class UBERON:0000956 biolink:NamedThing cerebral cortex The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex. tmpak2llvmy_mondo_relaxed.owl cortex cerebri|cortex of cerebral hemisphere|cortical plate (CTXpl)|brain cortex|cortex cerebralis|cortical plate (areas)|pallium of the brain owl:Class UBERON:0016548 biolink:NamedThing central nervous system gray matter layer A layer of of the central nervous system that is part of gray matter. tmpak2llvmy_mondo_relaxed.owl grey matter layer of neuraxis|CNS gray matter layer|CNS grey matter layer|grey matter layer|gray matter layer of neuraxis owl:Class MONDO:0019865 biolink:NamedThing mosaic trisomy 4 Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy type 4|trisomy 4 mosaicism|Mosaic trisomy chromosome 4 SCTID:764628000|Orphanet:96059|ICD10:Q92.1 owl:Class MONDO:0700065 biolink:NamedThing trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. tmpak2llvmy_mondo_relaxed.owl chromosomal triplication GARD:0006065|NCIT:C3421 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001304 biolink:NamedThing benign hypertensive renal disease tmpak2llvmy_mondo_relaxed.owl hypertensive renal disease, benign, without mention of renal failure|hypertensive renal disease, benign ICD9:403.10|UMLS:C0155596|SCTID:193003|ICD9:403.1|DOID:11520 owl:Class MONDO:0020237 biolink:NamedThing lens shape anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98655 owl:Class UBERON:0004068 biolink:NamedThing medial nasal prominence The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it tmpak2llvmy_mondo_relaxed.owl prominentia nasalis medialis|medial-nasal process|nasomedial prominence|medial nasal swelling|medial nasal process owl:Class MONDO:0032751 biolink:NamedThing arthrogryposis, distal, type 2B3 tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, type 2B3|distal arthrogryposis type 2B3 (Sheldon-Hall)|DA2B3 OMIM:618436|DOID:0111602 owl:Class GO:0010984 biolink:NamedThing regulation of lipoprotein particle clearance Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002015 biolink:NamedThing kidney capsule the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage tmpak2llvmy_mondo_relaxed.owl capsula fibrosa renis|renal capsule|fibrous capsule of kidney|capsule of kidney owl:Class MONDO:0002476 biolink:NamedThing anuria Absence of urine output. tmpak2llvmy_mondo_relaxed.owl suppression of urinary secretion MESH:D001002|DOID:2983|UMLS:C0003460 owl:Class MONDO:0021280 biolink:NamedThing mucoepidermoid carcinoma of parotid gland A mucoepidermoid carcinoma that involves the parotid gland. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the parotid|parotid mucoepidermoid carcinoma|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of parotid|mucoepidermoid carcinoma of the parotid gland UMLS:C1335363|NCIT:C5938|SCTID:423793008 owl:Class CL:0007003 biolink:NamedThing preodontoblast Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell. tmpak2llvmy_mondo_relaxed.owl haendel 2012-06-15T05:15:11Z cell owl:Class MONDO:0008305 biolink:NamedThing Currarino triad Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). tmpak2llvmy_mondo_relaxed.owl CURRARINO syndrome|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|sacral agenesis syndrome|Currarino triad|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation|Currarino syndrome|Scra1 ICD9:759.89|MESH:C536221|OMIM:176450|SCTID:413936007|GARD:0001626|DOID:0111546|ICD10:Q87.8|UMLS:C1531773|Orphanet:1552 owl:Class MONDO:0100385 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23.3;p13.3) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;19)(q23.3;p13.3)|AML, t(11;19)(q23;p13.3) owl:Class MONDO:0010358 biolink:NamedThing hypophosphatemic rickets, X-linked recessive Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. tmpak2llvmy_mondo_relaxed.owl X-linked hypophosphatemic rickets caused by mutation in CLCN5|CLCN5 X-linked hypophosphatemic rickets|hypophosphatemic rickets, X-linked recessive DOID:0080353|OMIM:300554 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations owl:Class GO:0022412 biolink:NamedThing cellular process involved in reproduction in multicellular organism A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl reproductive cellular process in multicellular organism owl:Class MONDO:0005913 biolink:NamedThing phlebotomus fever Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. tmpak2llvmy_mondo_relaxed.owl Sandfly-borne Bunyavirus fever|Sandfly-borne arboviral fever|Sandfly-borne phleboviral disease|pappataci fever|Sandfly fever EFO:0007437|DOID:11360|ICD10:A93.1|MESH:D010217|ICD9:066.0|UMLS:C0030372|SCTID:407476002 owl:Class NCBITaxon:40121 biolink:NamedThing Erythroparvovirus tmpak2llvmy_mondo_relaxed.owl Erythrovirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40119 biolink:NamedThing Parvovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001158 biolink:NamedThing descending colon The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon. tmpak2llvmy_mondo_relaxed.owl colon descendens owl:Class UBERON:0000168 biolink:NamedThing proximal-distal subdivision of colon A section dividing a colon along a proximal-distal axis. tmpak2llvmy_mondo_relaxed.owl segment of colon owl:Class HGNC:2026 biolink:NamedThing CLCNKA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003442 biolink:NamedThing hindlimb nerve A nerve that is part of a hindlimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb nerve|nerve of hindlimb|nerve of lower extremity|nerve of inferior member|nerve of hind limb owl:Class MONDO:0022858 biolink:NamedThing continuous spike-wave during slow sleep syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001513 https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome owl:Class MONDO:0011236 biolink:NamedThing hyperinsulinism due to glucokinase deficiency Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia familial 3|HHF3|hyperinsulinemic hypoglycemia due to glucokinase deficiency|hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia, familial, type 3 DOID:0070216|Orphanet:79299|SCTID:717182006|OMIM:602485|MESH:C538374|ICD10:E16.1|GARD:0002818|GARD:0009930 https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 owl:Class MONDO:0015624 biolink:NamedThing diazoxide-sensitive diffuse hyperinsulinism tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form ICD10:E16.1|Orphanet:165985 owl:Class MONDO:0012341 biolink:NamedThing celiac disease, susceptibility to, 3 Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene. tmpak2llvmy_mondo_relaxed.owl CELIAC3|gluten-sensitive enteropathy, susceptibility to, 3|celiac disease caused by mutation in CTLA4|celiac disease, susceptibility to, 3|celiac disease, susceptibility to, type 3|susceptibility to celiac disease 3|CTLA4 celiac disease OMIM:609755 owl:Class GO:0032351 biolink:NamedThing negative regulation of hormone metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpak2llvmy_mondo_relaxed.owl negative regulation of hormone metabolism|inhibition of hormone metabolic process|down-regulation of hormone metabolic process|downregulation of hormone metabolic process|down regulation of hormone metabolic process owl:Class MONDO:0019234 biolink:NamedThing peroxisome biogenesis disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). tmpak2llvmy_mondo_relaxed.owl cerebrohepatorenal syndrome|PBD-ZSD|peroxisome biogenesis disorder spectrum|PBD-ZSS|ZSD|Zellweger spectrum disorders|disorders of peroxisome biogenesis|peroxisomal biogenesis disorders, Zellweger syndrome spectrum|PBD, ZSS|Zellweger syndrome spectrum|peroxisome biogenesis disorders, Zellweger syndrome spectrum|peroxisomal biogenesis disorders|peroxisome biogenesis disorder|Zellweger spectrum|Zellweger spectrum disorder|peroxisome biogenesis disorder-Zellweger syndrome spectrum|PBD-Zellweger spectrum disorder Orphanet:79189|GARD:0009473|GARD:0011890|DOID:0080377|MESH:C536664|MESH:C531857|NCIT:C146639|SCTID:742876007|OMIMPS:214100 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0019053 biolink:NamedThing peroxisomal disease A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. tmpak2llvmy_mondo_relaxed.owl peroxisomal function disorder|peroxisomal disease|disorder of peroxisomal function|peroxisomal disorder SCTID:238059005|Orphanet:68373|ICD10:E71.5|DOID:906|ICD9:277.89|ICD9:277.86|NCIT:C85005|UMLS:C0282528|ICD10:E71.50 owl:Class MONDO:0021421 biolink:NamedThing carcinoid tumors, intestina tmpak2llvmy_mondo_relaxed.owl OMIM:114900 owl:Class GO:0051969 biolink:NamedThing regulation of transmission of nerve impulse Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpak2llvmy_mondo_relaxed.owl regulation of conduction of nerve impulse owl:Class MONDO:0019843 biolink:NamedThing pituitary hormone deficiency secondary to a granulomatous disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN206787|Orphanet:95617 owl:Class HP:0001103 biolink:NamedThing Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. tmpak2llvmy_mondo_relaxed.owl Macula abnormality|Macular abnormality|Abnormality of the macula UMLS:C0730362|SNOMEDCT_US:312999006 The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. human_phenotype owl:Class MONDO:0013835 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. tmpak2llvmy_mondo_relaxed.owl MDDGA7|ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD UMLS:C3553330|DOID:0111234|OMIM:614643 owl:Class CHEBI:39022 biolink:NamedThing inclusion compound A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces. tmpak2llvmy_mondo_relaxed.owl inclusion complex|inclusion compound|compuestos de inclusion|inclusion compounds|compuesto de inclusion|compose d'inclusion owl:Class CHEBI:50967 biolink:NamedThing non-covalently-bound molecular entity Systems consisting of two or more molecular entities held together by non-covalent interactions. tmpak2llvmy_mondo_relaxed.owl non-covalently-bound molecular entities owl:Class UBERON:0000997 biolink:NamedThing mammalian vulva external genital organs of the female mammal[WP]. tmpak2llvmy_mondo_relaxed.owl pudendum femininum|female pudendum|vulva|puboperineal region|skin of vulva|pudendum|pudendum muliebre|mammalian vulva|skin of female pudendum owl:Class MONDO:0007922 biolink:NamedThing lymphedema-distichiasis syndrome Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. tmpak2llvmy_mondo_relaxed.owl lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|lymphedema with distichiasis|lymphedema-distichiasis syndrome|hereditary lymphedema-distichiasis syndrome (subtype) ICD9:743.63|NCIT:C128191|MESH:C537710|OMIM:153400|SCTID:8634009|DOID:0111509|Orphanet:33001|ICD10:Q82.0|GARD:0000333|UMLS:C0265345 https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome owl:Class MONDO:0006418 biolink:NamedThing small intestinal enteropathy-associated T-cell lymphoma An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. tmpak2llvmy_mondo_relaxed.owl enteropathy-associated T-cell lymphoma of small intestine|small intestine enteropathy-associated T-cell lymphoma|small intestinal enteropathy-type T-cell lymphoma|small intestinal EATL UMLS:C1519371|NCIT:C39610|EFO:1000535 owl:Class MONDO:0012544 biolink:NamedThing brachydactyly-syndactyly syndrome Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. tmpak2llvmy_mondo_relaxed.owl Bdsd|BDSD|brachydactyly-syndactyly-oligodactyly syndrome|brachydactyly-syndactyly, Zhao type|brachydactyly-syndactyly syndrome DOID:0050689|UMLS:C1853137|OMIM:610713|ICD10:Q73.8|Orphanet:93409|MESH:C565193 owl:Class MONDO:0000429 biolink:NamedThing autosomal genetic disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. tmpak2llvmy_mondo_relaxed.owl autosomal inherited disorder|autosomal hereditary disorder|autosomal inherited disease SCTID:1899006|ICD9:758.5|DOID:0050739|UMLS:C0265384 owl:Class MONDO:0018343 biolink:NamedThing periodic paralysis with later-onset distal motor neuropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:397750|ICD10:G72.3 owl:Class NCBITaxon:33256 biolink:NamedThing Ascaridoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6249 biolink:NamedThing Ascaridomorpha tmpak2llvmy_mondo_relaxed.owl Ascaridida GC_ID:1 NCBITaxon:33255 ncbi_taxonomy owl:Class MONDO:0008726 biolink:NamedThing Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis tmpak2llvmy_mondo_relaxed.owl Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|ABS1 OMIM:201750|Orphanet:63269|UMLS:C3150099 owl:Class GO:0014050 biolink:NamedThing negative regulation of glutamate secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate. tmpak2llvmy_mondo_relaxed.owl down-regulation of glutamate secretion|down regulation of glutamate secretion|inhibition of glutamate secretion|downregulation of glutamate secretion owl:Class GO:1903792 biolink:NamedThing negative regulation of anion transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. tmpak2llvmy_mondo_relaxed.owl down regulation of anion transport|downregulation of anion transport|down-regulation of anion transport|inhibition of anion transport owl:Class MONDO:0022998 biolink:NamedThing distal arthrogryposis Moore weaver type tmpak2llvmy_mondo_relaxed.owl Moore Weaver syndrome UMLS:C2931342|MESH:C536814 owl:Class MONDO:0004455 biolink:NamedThing classic congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. tmpak2llvmy_mondo_relaxed.owl classic congenital mesoblastic nephroma NCIT:C39814|UMLS:C1516475|DOID:8083 owl:Class MONDO:0017043 biolink:NamedThing congenital mesoblastic nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. tmpak2llvmy_mondo_relaxed.owl CMn|mesoblastic nephroma|congenital mesoblastic nephroma|stromal nephroma, malignant NCIT:C6569|DOID:4773|GARD:0001493|ICD10:D41.0|MedDRA:10070665|ICDO:8960/1|UMLS:C1332965|Orphanet:2665 https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma owl:Class HGNC:4832 biolink:NamedThing HBG2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090032 biolink:NamedThing negative regulation of steroid hormone biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032353 biolink:NamedThing negative regulation of hormone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpak2llvmy_mondo_relaxed.owl inhibition of hormone biosynthetic process|downregulation of hormone biosynthetic process|down-regulation of hormone biosynthetic process|down regulation of hormone biosynthetic process owl:Class CL:0002169 biolink:NamedThing basal cell of olfactory epithelium An epithelial cell located on the basal lamina of the olfactory epithelium. tmpak2llvmy_mondo_relaxed.owl horizontal basal call FMA:62303 tmeehan 2010-08-26T01:58:54Z CL:1000395 cell owl:Class CL:0002167 biolink:NamedThing olfactory epithelial cell A specialized cell involved in sensory perception of smell. tmpak2llvmy_mondo_relaxed.owl FMA:67870 tmeehan 2010-08-26T01:47:13Z cell owl:Class MONDO:0008909 biolink:NamedThing congenital disorder of glycosylation, type i/IIx tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type I/IIX|CDG X|CDG-X|congenital disorder of glycosylation, type i/IIx MESH:C562844|UMLS:C0349655|OMIM:212067|GARD:0009840 https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix owl:Class MONDO:0018828 biolink:NamedThing pseudo-TORCH syndrome 2 tmpak2llvmy_mondo_relaxed.owl USP18 deficiency|PTORCH2|pseudo-TORCH syndrome 2 Orphanet:481665|UMLS:C4479376|OMIM:617397 owl:Class MONDO:0013822 biolink:NamedThing acrodysostosis 2 with or without hormone resistance Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. tmpak2llvmy_mondo_relaxed.owl PDE4D acrodysostosis|acrodysostosis 2 with or without hormone resistance|acrodysostosis caused by mutation in PDE4D|ACRDYS2 UMLS:C3553250|OMIM:614613 owl:Class MONDO:0019797 biolink:NamedThing acrodysostosis Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. tmpak2llvmy_mondo_relaxed.owl peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|acrodysplasia SCTID:66758006|GARD:0005724|UMLS:C0220659|ICD9:756.59|ICD10:Q75.4|DOID:14669|MESH:C538179|OMIMPS:101800|Orphanet:950 https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis owl:Class MONDO:0010294 biolink:NamedThing X-linked severe congenital neutropenia This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. tmpak2llvmy_mondo_relaxed.owl X-linked severe congenital neutropenia|SCNX|Xln|severe congenital neutropenia, X-linked|neutropenia, severe congenital, X-linked|severe congenital neutropenia X-linked OMIM:300299|GARD:0003981|UMLS:C1845987|MESH:C564539|Orphanet:86788|SCTID:718882006|ICD10:D70 https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked owl:Class HGNC:14253 biolink:NamedThing CERS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019206 biolink:NamedThing sparse hair-short stature-skin anomalies syndrome Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205797|Orphanet:79132 owl:Class UBERON:0001572 biolink:NamedThing hyoglossus muscle A muscle that attaches to the hyopid bone and to the tongue and is innervated by cranial nerve XII tmpak2llvmy_mondo_relaxed.owl m. hyoglossus|hyoglossus owl:Class HGNC:3748 biolink:NamedThing FLG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015801 biolink:NamedThing hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:178396|UMLS:CN200394 owl:Class MONDO:0004627 biolink:NamedThing duodenitis Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. tmpak2llvmy_mondo_relaxed.owl inflammation of duodenum|duodenitis|duodenum inflammation|hemorrhagic duodenitis SCTID:72007001|ICD9:535.60|ICD10:K29.8|ICD9:535.6|UMLS:C0013298|DOID:8643|MESH:D004382|NCIT:C94409 owl:Class MONDO:0043579 biolink:NamedThing enteritis Inflammation of the small intestine. tmpak2llvmy_mondo_relaxed.owl Enteritides|enteritis, inflammatory disorder of small intestine|enteritis|small intestine inflammation|inflammation of small intestine|enteritis of small intestine NCIT:C26765|SCTID:64613007|UMLS:C0014335|MESH:D004751 owl:Class MONDO:0009445 biolink:NamedThing ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. tmpak2llvmy_mondo_relaxed.owl Dykes-Markes-Harper syndrome|Dykes-Marks-Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration|Dykes Markes Harper syndrome ICD9:571.8|MESH:C535727|UMLS:C1275088|Orphanet:2274|SCTID:403779009|OMIM:242520|GARD:0001993|ICD10:Q87.8 owl:Class MONDO:0011749 biolink:NamedThing oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. tmpak2llvmy_mondo_relaxed.owl albinism, oculocutaneous, type IB|Yellow mutant albinism|oculocutaneous albinism, Amish type|OCA1B|Oca1-Ts|oculocutaneous albinism, type 1B|oculocutaneous albinism type IB|albinism, oculocutaneous, type 1B|albinism, oculocutaneous, type I, temperature-sensitive|Yellow albinism|albinism, Yellow mutant type|platinum oculocutaneous albinism|Yellow oculocutaneous albinism OMIM:606952|DOID:0070095|MESH:C537729|UMLS:C1847024|Orphanet:79434|ICD10:E70.3|GARD:0000594 https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b owl:Class GO:0099170 biolink:NamedThing postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000781 biolink:NamedThing cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. tmpak2llvmy_mondo_relaxed.owl Prunus avium fruit allergy DOID:0060506 owl:Class MONDO:0008113 biolink:NamedThing Schilbach-Rott syndrome Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. tmpak2llvmy_mondo_relaxed.owl hypotelorism cleft palate hypospadias|cleft palate, hypotelorism, and hypospadias|blepharofacioskeletal syndrome|ocular hypotelorism, submucosal cleft palate, and hypospadias|hypotelorism-cleft palate-hypospadias syndrome|BRSS|Schilbach-Rott syndrome MESH:C563509|Orphanet:2353|ICD10:Q87.8|SCTID:721902002|OMIM:164220|GARD:0002930 https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias owl:Class MONDO:0009491 biolink:NamedThing Haim-Munk syndrome Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. tmpak2llvmy_mondo_relaxed.owl keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|Cochin Jewish disorder|Haim-Munk syndrome|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris with periodontopathia and onychogryposis|HMS|HAIM-Munk syndrome OMIM:245010|ICD10:Q82.8|Orphanet:2342|GARD:0000044|MESH:C537627|SCTID:719973009|UMLS:C1855627 https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome owl:Class MONDO:0015726 biolink:NamedThing distal trisomy 14q tmpak2llvmy_mondo_relaxed.owl trisomy 14qter|telomeric duplication 14q|distal trisomy type 14q|distal duplication 14q UMLS:CN036934|Orphanet:1705|MESH:C538034|ICD10:Q92.3 owl:Class HGNC:19321 biolink:NamedThing NKX6-2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410035 biolink:NamedThing medullary arteriole of lymph node An arteriole that arises from the hilar artery of a lymph node and radiates centrifugally, branching in the medulla. tmpak2llvmy_mondo_relaxed.owl arteriole of medulla of lymph node owl:Class MONDO:0014911 biolink:NamedThing growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl GRIDHH|Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH EFO:0009155|OMIM:617093|Orphanet:541423|UMLS:C4310720 owl:Class MONDO:0018547 biolink:NamedThing acute tricyclic antidepressant poisoning Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. tmpak2llvmy_mondo_relaxed.owl Orphanet:43117|UMLS:CN227537|ICD10:T43.0 owl:Class UBERON:0009652 biolink:NamedThing bronchus basement membrane A basement membrane that is part of a bronchus. tmpak2llvmy_mondo_relaxed.owl bronchial basement membrane owl:Class MONDO:0008975 biolink:NamedThing otospondylomegaepiphyseal dysplasia An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. tmpak2llvmy_mondo_relaxed.owl Insley-Astley syndrome|OSMED|OSMED syndrome|otospondylmegaepiphyseal dysplasia|chondrodystrophy with sensorineural deafness|Nance-Insley syndrome|oto-spondylo-mega-epiphyseal dysplasia|Nance-Sweeney chondrodysplasia|Nance Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia GARD:0004130|ICD9:759.89|SCTID:254060000|OMIMPS:184840|Orphanet:1427|DOID:0080026|ICD10:Q77.7 owl:Class MONDO:0021242 biolink:NamedThing sublingual gland neoplasm A neoplasm (disease) that involves the sublingual gland. tmpak2llvmy_mondo_relaxed.owl sublingual gland tumor|tumor of sublingual gland|neoplasm of the sublingual gland|sublingual gland neoplasm (disease)|tumor of the sublingual gland|neoplasm of sublingual gland EFO:1001430|MESH:D013362|NCIT:C3392|SCTID:126790004|UMLS:C0038554 owl:Class MONDO:0002664 biolink:NamedThing extrahepatic bile duct signet ring cell carcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells. tmpak2llvmy_mondo_relaxed.owl signet Ring cell carcinoma of the bile duct|signet Ring cell bile duct carcinoma|signet Ring cell carcinoma of bile duct|extrahepatic bile duct signet Ring cell carcinoma|bile duct signet Ring cell carcinoma|bile duct signet ring cell carcinoma NCIT:C5776|UMLS:C0861859|DOID:3494 owl:Class MONDO:0002665 biolink:NamedThing extrahepatic bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct|adenocarcinoma of the extrahepatic bile duct NCIT:C7975|DOID:3495|UMLS:C0279659 owl:Class MONDO:0023209 biolink:NamedThing galactorrhoea-hyperprolactinaemia tmpak2llvmy_mondo_relaxed.owl galactorrhoea-hyperprolactinaemia|hyperprolactinaemia|galactorrhea-hyperprolactinemia GARD:0008400|MESH:C535402 https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia owl:Class MONDO:0009256 biolink:NamedThing galactorrhea Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. tmpak2llvmy_mondo_relaxed.owl galactorrhea (disease)|galactorrhea galactorrhea (disease) NCIT:C113343|HP:0100829|SCTID:78622004|ICD9:611.6|MESH:D005687|OMIM:230300 owl:Class HGNC:4312 biolink:NamedThing GCLM tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20893 biolink:NamedThing BCOR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001645 biolink:NamedThing trigeminal nerve Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). tmpak2llvmy_mondo_relaxed.owl trigeminal nerve tree|trigeminus|nervus trigeminus|nervus trigeminus [v]|trigeminal V|cranial nerve V|5n|trigeminal v nerve|fifth cranial nerve|nerve V|trigeminal nerve [V]|CN-V owl:Class GO:0099118 biolink:NamedThing microtubule-based protein transport A microtubule-based process that results in the transport of proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015031 biolink:NamedThing protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl enzyme transport owl:Class MONDO:0002706 biolink:NamedThing cervix endometriosis Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding. tmpak2llvmy_mondo_relaxed.owl endometriosis of cervix|uterine cervix endometriosis (disease)|endometriosis (disease) of uterine cervix|cervical endometriosis SCTID:61640006|DOID:361|NCIT:C27623|UMLS:C0269107 owl:Class SO:0000673 biolink:NamedThing transcript An RNA synthesized on a DNA or RNA template by an RNA polymerase. tmpak2llvmy_mondo_relaxed.owl INSDC_feature:misc_RNA owl:Class MONDO:0017757 biolink:NamedThing disorder of metabolite absorption and transport tmpak2llvmy_mondo_relaxed.owl Orphanet:309824|UMLS:CN227202 owl:Class MONDO:0006690 biolink:NamedThing carotid artery thrombosis Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. tmpak2llvmy_mondo_relaxed.owl carotid artery thrombosis MESH:D002341|EFO:1000853|ICD9:433.10|SCTID:86003009|UMLS:C0007274|DOID:3410|MedDRA:10007688 owl:Class MONDO:0002907 biolink:NamedThing intracranial thrombosis Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. tmpak2llvmy_mondo_relaxed.owl cerebral thrombosis MESH:D020767|SCTID:71444005|UMLS:C0752143|ICD9:434.00|ICD9:434.0|DOID:4193 owl:Class GO:2000832 biolink:NamedThing negative regulation of steroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29594 biolink:NamedThing UQCRQ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015292 biolink:NamedThing endotheliitis An inflammatory disease involving a pathogenic inflammatory response in the endothelium. tmpak2llvmy_mondo_relaxed.owl endothelium inflammation|inflammation of endothelium Orphanet:137602 owl:Class MONDO:0014540 biolink:NamedThing amelogenesis imperfecta type 1H Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, type 1H|amelogenesis imperfecta type IH|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta, type IH|amelogenesis imperfecta caused by mutation in ITGB6|AI1H UMLS:C4015557|DOID:0110064|OMIM:616221|ICD10:K00.5 Not in the OMIM series. owl:Class CL:0008009 biolink:NamedThing transversely striated visceral muscle cell A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008563 biolink:NamedThing thumb stiffness-brachydactyly-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. tmpak2llvmy_mondo_relaxed.owl thumbs, STIFF, with brachydactyly type A1 and developmental delay|Piussan-Lenaerts-Mathieu syndrome|Thumb ankylosis with mental retardation|thumb stiff brachydactyly mental retardation|Thumb ankylosis with intellectual disability|thumb stiff brachydactyly intellectual disability GARD:0004375|OMIM:188201|GARD:0005200|Orphanet:1078|ICD10:Q87.2 owl:Class GO:0032091 biolink:NamedThing negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. tmpak2llvmy_mondo_relaxed.owl down regulation of protein binding|inhibition of protein binding|down-regulation of protein binding|downregulation of protein binding owl:Class UBERON:0015019 biolink:NamedThing rib endochondral element A rib bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl rib element|rib skeletal element owl:Class CHEBI:33497 biolink:NamedThing transition element molecular entity A molecular entity containing one or more atoms of a transition element. tmpak2llvmy_mondo_relaxed.owl transition element molecular entities|transition metal molecular entity owl:Class CHEBI:23367 biolink:NamedThing molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. tmpak2llvmy_mondo_relaxed.owl molekulare Entitaet|molecular entity|entidad molecular|molecular entities|entite moleculaire|entidades moleculares owl:Class MONDO:0006828 biolink:NamedThing nasal cavity and paranasal sinus lethal midline granuloma An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. tmpak2llvmy_mondo_relaxed.owl Midline lethal granuloma of the nasal cavity and paranasal sinus|Midline lethal granuloma of nasal cavity and paranasal sinus|midfacial Necrotising lesion|malignant granuloma of face|lethal midline granuloma|nasal cavity and paranasal sinus lethal Midline granuloma EFO:1001013|ICD9:446.3|MESH:D006103|ICD10:M31.2|NCIT:C8196|MedDRA:10024255|DOID:9072 Editor note: TODO granuloma DP owl:Class HGNC:6649 biolink:NamedThing LMOD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003442 biolink:NamedThing bladder papillary urothelial neoplasm A papillary epithelial neoplasm that involves the urinary bladder urothelium. tmpak2llvmy_mondo_relaxed.owl bladder papillary transitional cell neoplasm|urinary bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm|urinary bladder papillary transitional cell neoplasm|bladder papillary urothelial neoplasm DOID:5432|UMLS:C1511197|NCIT:C39857 owl:Class MONDO:0012878 biolink:NamedThing Cowden syndrome 2 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. tmpak2llvmy_mondo_relaxed.owl Cowden syndrome 2|CWS2|Cowden syndrome type 2|Cowden disease caused by mutation in SDHB|SDHB Cowden disease UMLS:C3552552|OMIM:612359|MESH:C567337 owl:Class NCBITaxon:2732529 biolink:NamedThing Tectiliviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732008 biolink:NamedThing Preplasmiviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002406 biolink:NamedThing pericardial sac a double-walled sac containing the heart and the roots of the great vessels. tmpak2llvmy_mondo_relaxed.owl pericardium owl:Class MONDO:0024639 biolink:NamedThing gastric enterochromaffin cell serotonin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. tmpak2llvmy_mondo_relaxed.owl gastric enterochromaffin cell serotonin-producing neuroendocrine tumor|gastric EC cell serotonin-producing NET|gastric EC-cell serotonin-producing neuroendocrine tumor NCIT:C27443|UMLS:C3274137 owl:Class MONDO:0015062 biolink:NamedThing gastric neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. tmpak2llvmy_mondo_relaxed.owl well-differentiated neuroendocrine tumors of the stomach|gastric well differentiated endocrine tumor/carcinoma|GNET|gastric well differentiated endocrine tumor|gastric NET G1/2|gastric neuroendocrine tumor|gastric NET UMLS:CN197355|NCIT:C95871|ONCOTREE:SWDNET|UMLS:C3272399 owl:Class MONDO:0005173 biolink:NamedThing actinic keratosis A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. tmpak2llvmy_mondo_relaxed.owl actinic keratosis|SK - solar keratosis|Senile keratosis|Senile hyperkeratosis|actinic (solar) keratosis|solar keratosis|senile keratosis|actinic keratosis (disease) actinic keratosis (disease) SCTID:398838000|ICD9:702.0|ICD9:702.19|EFO:0002496|DOID:8866|NCIT:C3148|UMLS:C0022602|ICD10:L57.0|HP:0025127|MESH:D055623|UMLS:C4282032 owl:Class MONDO:0007744 biolink:NamedThing cholesterol-ester transfer protein deficiency tmpak2llvmy_mondo_relaxed.owl HALP1|familial hyperalphalipoproteinemia|hyperalphalipoproteinemia type 1|hyperalphalipoproteinemia 1|CEPT deficiency|cholesterol ester transfer Protein deficiency|high density lipoprotein cholesterol level quantitative trait locus 10|Hdlcq10|CETP deficiency Orphanet:79506|UMLS:CN205999|OMIM:143470|UMLS:C3875011|DOID:0111368|ICD10:E78.4|SCTID:15771000119109 owl:Class UBERON:0004520 biolink:NamedThing striated muscle tissue of prostate A portion of striated muscle tissue that is part of a prostate gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008715 biolink:NamedThing muscle tissue of prostate A muscle tissue that is part of a prostate gland. tmpak2llvmy_mondo_relaxed.owl prostate muscle tissue|prostatic muscle|prostate gland muscle tissue|prostatic musclular tissue owl:Class MONDO:0013379 biolink:NamedThing Noonan syndrome 7 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpak2llvmy_mondo_relaxed.owl NS7|Noonan syndrome 7|BRAF Noonan syndrome|Noonan syndrome caused by mutation in BRAF|Noonan syndrome type 7 DOID:0060585|UMLS:C3150970|OMIM:613706 owl:Class MONDO:0018997 biolink:NamedThing Noonan syndrome Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl Noonan syndrome|Noonan's syndrome|pseudo-Ullrich-Turner syndrome|Turner's phenotype, karyotype normal|Ullrich-Noonan syndrome|Noonan-Ehmke syndrome NCIT:C34854|GARD:0010955|ICD10:Q87.1|SCTID:205824006|MESH:D009634|DOID:3490|MedDRA:10029748|UMLS:C0028326|ICD9:759.89|OMIMPS:163950|Orphanet:648 owl:Class NCBITaxon:43733 biolink:NamedThing Muscomorpha tmpak2llvmy_mondo_relaxed.owl Asilomorpha GC_ID:1 NCBITaxon:43732 ncbi_taxonomy owl:Class NCBITaxon:7203 biolink:NamedThing Brachycera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004238 biolink:NamedThing spleen smooth muscle A portion of smooth muscle tissue that is part of a spleen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of spleen|smooth muscle of spleen|smooth muscle tissue of spleen|spleen smooth muscle tissue|spleen involuntary muscle|spleen non-striated muscle|non-striated muscle of spleen owl:Class GO:0046879 biolink:NamedThing hormone secretion The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009914 biolink:NamedThing hormone transport The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016239 biolink:NamedThing cystinosis Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. tmpak2llvmy_mondo_relaxed.owl cystinosis|cystine storage disease|cystine diathesis|Cystinoses|Protein defect of cystin transport|cystine disease ICD10:E72.0|Orphanet:213|GARD:0006236|UMLS:CN035091|ICD10:E72.04|NCIT:C2976|MedDRA:10011777|SCTID:190681003|UMLS:C0010690|DOID:1064|MESH:D003554 https://rarediseases.info.nih.gov/diseases/6236/cystinosis owl:Class HGNC:7677 biolink:NamedThing NSMCE3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1902722 biolink:NamedThing positive regulation of prolactin secretion Any process that activates or increases the frequency, rate or extent of prolactin secretion. tmpak2llvmy_mondo_relaxed.owl up-regulation of prolactin secretion|activation of prolactin secretion|up regulation of prolactin secretion|upregulation of prolactin secretion owl:Class MONDO:0009089 biolink:NamedThing deafness-oligodontia syndrome Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl congenital profound sensorineural deafness and oligodontia|deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|deafness oligodontia syndrome GARD:0001698|Orphanet:3230|MESH:C538049|UMLS:C1857333|OMIM:221740 https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome owl:Class GO:2000243 biolink:NamedThing positive regulation of reproductive process Any process that activates or increases the frequency, rate or extent of reproductive process. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050865 biolink:NamedThing regulation of cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022559 biolink:NamedThing benign angiitis of the central nervous system A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. tmpak2llvmy_mondo_relaxed.owl BACNS GARD:0008704 https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system owl:Class UBERON:0000964 biolink:NamedThing cornea the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure tmpak2llvmy_mondo_relaxed.owl cornea of camera-type eye|corneas|tunica cornea owl:Class MONDO:0014149 biolink:NamedThing fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome type 5|myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome 5|LCCS5 OMIM:615368|ICD10:G71.2|Orphanet:363409|SCTID:763346009|UMLS:C3809272 owl:Class MONDO:0023910 biolink:NamedThing Martsolf syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:212720 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0044247 biolink:NamedThing cellular polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular polysaccharide breakdown|cellular polysaccharide degradation|cellular polysaccharide catabolism owl:Class UBERON:0011679 biolink:NamedThing proximal tarsal bone A tarsal bone that connected_to a hindlimb zeugopod skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015081 biolink:NamedThing proximal tarsal endochondral element A proximal mesopodial endochondral element that is part of a hindlimb. tmpak2llvmy_mondo_relaxed.owl proximal tarsal owl:Class GO:2001200 biolink:NamedThing positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001198 biolink:NamedThing regulation of dendritic cell differentiation Any process that modulates the frequency, rate or extent of dendritic cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000437 biolink:NamedThing cerebellar ataxia A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia|spinocerebellar Degeneration|ataxia syndrome|cerebellar Ataxias|cerebellar Dysmetrias|cerebellar dysmetria|ataxia|rare ataxia|ataxia, cerebellar|ataxias, cerebellar Orphanet:102002|UMLS:C0087012|MESH:D002524|SCTID:85102008|NCIT:C82341|DOID:0050753|ICD9:334.3|GARD:0012060 In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare owl:Class MONDO:0100308 biolink:NamedThing atactic disorder A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. tmpak2llvmy_mondo_relaxed.owl ataxia|ataxic disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0003873 biolink:NamedThing ovarian surface papilloma A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. tmpak2llvmy_mondo_relaxed.owl ovarian surface papilloma DOID:6407|NCIT:C7279|UMLS:C1335183 owl:Class MONDO:0002362 biolink:NamedThing serous surface papilloma A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. tmpak2llvmy_mondo_relaxed.owl serous surface papilloma|serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma (morphologic abnormality) ICDO:8461/0|DOID:2614|UMLS:C0334360|NCIT:C4181 owl:Class MONDO:0020143 biolink:NamedThing cerebral lipidosis with dementia tmpak2llvmy_mondo_relaxed.owl cerebral lipidosis ICD9:330.1|DOID:10742|Orphanet:98544|UMLS:C0007788|SCTID:16517004 owl:Class NCBITaxon:28221 biolink:NamedThing Deltaproteobacteria tmpak2llvmy_mondo_relaxed.owl "Deltabacteria" Cavalier-Smith 1992|d-proteobacteria|delta subdivision|delta subgroup|Deltabacteria Cavalier-Smith 2002|Purple bacteria, delta subdivision|Myxococcia|delta proteobacteria|Proteobacteria delta subdivision PMID:11837318|PMID:28771119|PMID:16403855|GC_ID:11|PMID:33151140|PMID:27453056 NCBITaxon:32015 ncbi_taxonomy owl:Class UBERON:0034995 biolink:NamedThing jaw mesenchyme Mesenchyme that is part of a developing jaw [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016609 biolink:NamedThing inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. tmpak2llvmy_mondo_relaxed.owl imam SCTID:766706007|ICD10:G72.4|Orphanet:247718|UMLS:CN201809 owl:Class MONDO:0007705 biolink:NamedThing Heinz body anemia tmpak2llvmy_mondo_relaxed.owl Heinz body anemias MESH:C563030|MedDRA:10002058|UMLS:C0700299|Orphanet:178330|DOID:0111363|OMIM:140700|HP:0005511|GARD:0010718|ICD10:D58.2 owl:Class MONDO:0003555 biolink:NamedThing Bartholin gland adenosquamous carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl Bartholin's gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma NCIT:C40296|DOID:5630|UMLS:C1511050 owl:Class MONDO:0009425 biolink:NamedThing hypomandibular faciocranial dysostosis Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. tmpak2llvmy_mondo_relaxed.owl hypomandibular faciocranial dysostosis OMIM:241310|MESH:C537154|ICD10:Q75.4|Orphanet:1790|SCTID:721845005|GARD:0002907 https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis owl:Class MONDO:0030602 biolink:NamedThing Klebsiella pneumonia An pneumonia caused by infection with Klebsiella. tmpak2llvmy_mondo_relaxed.owl pneumonia caused by Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae|Klebsiella caused pneumonia|pneumonia due to Klebsiella pneumoniae (disorder) DOID:13272|SCTID:64479007|ICD9:482.0|UMLS:C0519030|ICD10:J15.0 owl:Class MONDO:0019861 biolink:NamedThing thyroid hypoplasia Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl MedDRA:10065938|ICD10:E03.1|Orphanet:95720 owl:Class MONDO:0019853 biolink:NamedThing congenital hypothyroidism due to developmental anomaly Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl primary congenital hypothyroidism due to developmental anomaly 2022-03-01 Orphanet:95711|ICD10:E03.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. https://github.com/monarch-initiative/mondo/issues/3886 owl:Class UBERON:0009522 biolink:NamedThing lateral lingual swelling epithelium An epithelium that is part of a lateral lingual swelling. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012845 biolink:NamedThing inflammatory bowel disease 19 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 19|IRGM inflammatory bowel disease|IBD19|inflammatory bowel disease caused by mutation in IRGM|inflammatory bowel disease (Crohn disease) 19|inflammatory bowel disease type 19 DOID:0110890|UMLS:C2677079|MESH:C567372|OMIM:612278 owl:Class CHEBI:27171 biolink:NamedThing organic heterobicyclic compound tmpak2llvmy_mondo_relaxed.owl heterobicyclic compounds|organic heterobicyclic compounds owl:Class MONDO:0000874 biolink:NamedThing T-cell childhood lymphoblastic lymphoma A T lymphoblastic lymphoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood T lymphoblastic lymphoma|T lymphoblastic lymphoma|childhood precursor T-lymphoblastic lymphoma NCIT:C7210|EFO:1001948|UMLS:C1332998|DOID:0080148 owl:Class MONDO:0008197 biolink:NamedThing parietal foramina 1 Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene. tmpak2llvmy_mondo_relaxed.owl parietal foramina caused by mutation in MSX2|catlin Marks|foramina parietalia permagna|cranium bifidum, hereditary|parietal foramina, symmetric|MSX2 parietal foramina|PFM|parietal foramina 1|cranium bifidum occultum|PFM1|parietal foramina OMIM:168500 owl:Class MONDO:0018953 biolink:NamedThing parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. tmpak2llvmy_mondo_relaxed.owl hereditary cranium bifidum|fenestrae parietales symmetricae|Caitlin marks|catlin marks|parietal foramina|foramina parietalia permagna|enlarged parietal foramina|symmetric parietal foramina Orphanet:60015|DOID:0060285|OMIMPS:168500|SCTID:718099006|HP:0002697|MESH:C566826|ICD10:Q75.8 owl:Class UBERON:0002290 biolink:NamedThing choroid plexus of fourth ventricle Choroid plexus of the fourth ventricle tmpak2llvmy_mondo_relaxed.owl choroid plexus fourth ventricle|chorioid plexus of cerebral hemisphere of fourth ventricle|4th ventricle choroid plexus|fourth ventricle choroid plexus|fourth ventricle chorioid plexus of cerebral hemisphere|chorioid plexus of fourth ventricle owl:Class UBERON:0012499 biolink:NamedThing serosa of uterine tube A serous membrane that is part of a fallopian tube. tmpak2llvmy_mondo_relaxed.owl serous coat of uterine tube|serosa of oviduct|serosa of fallopian tube|uterine tubal serosa|uterine tube serosa|tunica serosa (tuba uterina)|tunica serosa tubae uterinae owl:Class UBERON:0016458 biolink:NamedThing esophageal hiatus A hole in the diaphragm through which the esophagus passes tmpak2llvmy_mondo_relaxed.owl esophageal hiatus of diaphragm|oesophageal aperture|oesophageal hiatus owl:Class MONDO:0007728 biolink:NamedThing acne inversa, familial, 1 Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. tmpak2llvmy_mondo_relaxed.owl acne inversa, familial, type 1|ACNINV1|acne inversa, familial, 1|familial acne inversa caused by mutation in NCSTN|NCSTN familial acne inversa|acne inversa, familial|hidradenitis suppurativa, familial OMIM:142690|UMLS:CN028850 owl:Class MONDO:0024516 biolink:NamedThing familial acne inversa An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial hidradenitis suppurativa|ACNINV|hereditary hidradenitis suppurativa OMIMPS:142690 owl:Class HGNC:8979 biolink:NamedThing PIK3R1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005749 biolink:NamedThing eosinophilic pneumonia An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. tmpak2llvmy_mondo_relaxed.owl pneumonia, eosinophilic|eosinophilic pneumonia DOID:5870|ICD10:J82|EFO:0007257|UMLS:C1527407|NCIT:C35150 owl:Class MONDO:0013543 biolink:NamedThing trypsinogen deficiency tmpak2llvmy_mondo_relaxed.owl trypsinogen deficiency ICD9:277.89|UMLS:C0268417|OMIM:614044|SCTID:190953007 owl:Class GO:0090022 biolink:NamedThing regulation of neutrophil chemotaxis Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013843 biolink:NamedThing intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. tmpak2llvmy_mondo_relaxed.owl meconium ileus due to guanylate cyclase 2C deficiency|meconium ileus caused by mutation in GUCY2C|GUCY2C meconium ileus|meconium ileus OMIM:614665|SCTID:733447005|ICD10:P76.0|ICD9:777.1|Orphanet:314376 owl:Class MONDO:0013053 biolink:NamedThing microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. tmpak2llvmy_mondo_relaxed.owl microcephaly-faciocardioskeletal syndrome|Hadziselimovic syndrome ICD10:Q87.8|MESH:C567850|OMIM:612946|Orphanet:217026|SCTID:719395001|UMLS:C2751878 owl:Class MONDO:0002334 biolink:NamedThing hematopoietic and lymphoid system neoplasm Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 tmpak2llvmy_mondo_relaxed.owl hematopoietic and lymphoid system tumor|malignant hematopoietic neoplasm (morphologic abnormality)|neoplasm of blood|hematologic neoplasm|blood neoplasm (disease)|hematopoietic system neoplasm|tumor of blood|hematopoietic and lymphoid system neoplasm|tumor of hematopoietic system|hematopoietic neoplasm (morphologic abnormality)|blood tumor|hematopoietic system tumor|hematopoietic tumors|hematologic cancer|hematologic malignancy|hematological tumors|hematopoietic neoplasm|blood cancer|hematopoietic cancer|neoplasm of hematopoietic system UMLS:C0376545|UMLS:C1512393|DOID:2531|MESH:D019337|SCTID:129154003|UMLS:C0376544|NCIT:C35813 owl:Class CHEBI:50584 biolink:NamedThing alkyl alcohol An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. tmpak2llvmy_mondo_relaxed.owl alkyl alcohols|hydroxyalkanes|hydroxyalkane owl:Class CHEBI:2571 biolink:NamedThing aliphatic alcohol An alcohol derived from an aliphatic compound. tmpak2llvmy_mondo_relaxed.owl Aliphatic alcohol|an aliphatic alcohol|aliphatic alcohols owl:Class HP:0011282 biolink:NamedThing Abnormality of hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of hindbrain|Abnormality of the hindbrain UMLS:C4021170 The hindbrain consists of two main structures: The pons and the cerebellum. peter 2012-01-01T01:22:36Z human_phenotype owl:Class MONDO:0000303 biolink:NamedThing conidiobolomycosis tmpak2llvmy_mondo_relaxed.owl rhinoentomophthoromycosis|Conidiobolus infectious disease|infection by Conidiobolus ICD9:111.8|SCTID:240783007|DOID:0050279|UMLS:C0276712 owl:Class MONDO:0000255 biolink:NamedThing subcutaneous mycosis A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis. tmpak2llvmy_mondo_relaxed.owl subcutaneous mycosis DOID:0050135 owl:Class MONDO:0100238 biolink:NamedThing inherited Fanconi renotubular syndrome An instance of Fanconi renotubular syndrome that is inherited. tmpak2llvmy_mondo_relaxed.owl hereditary Fanconi renotubular syndrome OMIMPS:134600 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000696 biolink:NamedThing PP cell A cell that stores and secretes pancreatic polypeptide hormone. tmpak2llvmy_mondo_relaxed.owl type F enteroendocrine cell FMA:62938|FMA:83409 cell owl:Class MONDO:0032673 biolink:NamedThing basal ganglia calcification, idiopathic, 7, autosomal recessive tmpak2llvmy_mondo_relaxed.owl IBGC7|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE OMIM:618317 owl:Class MONDO:0002069 biolink:NamedThing female breast axillary tail cancer A cancer that involves the UBERON:0035289. tmpak2llvmy_mondo_relaxed.owl axillary tail of breast cancer|malignant neoplasm of axillary tail of female breast|malignant axillary tail of breast neoplasm|cancer of axillary tail of breast|malignant neoplasm of axillary tail of breast SCTID:188156001|UMLS:C0153554|DOID:1650|ICD10:C50.61|ICD9:174.6|ICD10:C50.6 owl:Class MONDO:0009451 biolink:NamedThing Nezelof syndrome tmpak2llvmy_mondo_relaxed.owl Nezelof syndrome|T-lymphocyte deficiency|thymic aplasia|Nezelof's syndrome|immune defect due to absence Of Thymus|immune defect due to absence of THYMUS ICD9:279.13|DOID:2012|UMLS:CN206066|OMIM:242700|MESH:C536288|ICD10:D81.4|Orphanet:83471|GARD:0007201|SCTID:55602000 owl:Class MONDO:0018036 biolink:NamedThing immunodeficiency due to absence of thymus tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:D81.4|Orphanet:331220 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class MONDO:0008729 biolink:NamedThing congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. tmpak2llvmy_mondo_relaxed.owl adrenal hyperplasia hypertensive form|P450C11B1 deficiency|11-Beta-Hydroxylase deficiency|CYP11B1 deficiency|adrenal hyperplasia, hypertensive form|CAH due to 11-beta-hydroxylase deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|adrenal hyperplasia IV|adrenal hyperplasia 4|steroid 11-Beta-Hydroxylase deficiency MESH:C535978|ICD9:277.6|GARD:0005658|ICD10:E25.0|Orphanet:90795|OMIM:202010|MedDRA:10000002|SCTID:124214007|UMLS:C0268292|NCIT:C131085 owl:Class UBERON:0036303 biolink:NamedThing vasculature of central nervous system tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:33351 biolink:NamedThing Panheteroptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33349 biolink:NamedThing Neoheteroptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010005 biolink:NamedThing saccharopinuria Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. tmpak2llvmy_mondo_relaxed.owl Alpha-aminoadipic semialdehyde synthase deficiency|saccharopinuria|saccharopine dehydrogenase deficiency|hyperlysinemia, type 2|hyperlysinemia type II OMIM:268700|ICD9:270.7|SCTID:111397004|UMLS:C0268556|Orphanet:3124|MESH:C537218|GARD:0000314|ICD10:E72.3 owl:Class MONDO:0017351 biolink:NamedThing inborn disorder of lysine and hydroxylysine metabolism tmpak2llvmy_mondo_relaxed.owl disorder of lysine and hydroxylysine metabolism SCTID:237929000|Orphanet:289832|ICD9:270.8|ICD10:E72.3|ICD9:270.7 owl:Class MONDO:0001091 biolink:NamedThing lipoma of colon A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. tmpak2llvmy_mondo_relaxed.owl lipoma of the colon|lipoma of colon|colon lipoma|colonic lipoma DOID:10655|UMLS:C0940607|NCIT:C5493 owl:Class MONDO:0008073 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 1 A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. tmpak2llvmy_mondo_relaxed.owl familial juvenile gouty nephropathy|familial juvenile hyperuricaemic nephropathy|UMOD-related kidney disease|hyperuricemic nephropathy, familial juvenile, type 1|medullary cystic kidney disease type II|medullary cystic kidney disease 2, autosomal dominant|UMOD-associated FJHN|gouty nephropathy, familial juvenile|medullary cystic kidney disease type 2|HNFJ1|MCKD2|uromodulin storage disease|FJHN type 1|hyperuricemic nephropathy, familial juvenile|hyperuricemic nephropathy, familial juvenile, 1|uromodulin-associated kidney disease|medullary cystic kidney disease 2|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|familial nephropathy with gout|UMOD familial juvenile hyperuricemic nephropathy|glomerulocystic kidney disease with hyperuricemia and isosthenuria|nephropathy, familial, with gout|UMOD-associated familial juvenile hyperuricemic nephropathy UMLS:C4054550|UMLS:CN239214|NCIT:C123172|OMIM:162000|SCTID:445503007|Orphanet:209886|OMIM:603860|UMLS:C1835934|OMIM:609886|EFO:0008618|MESH:C563693|GARD:0006806 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy owl:Class MONDO:0019236 biolink:NamedThing inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn purine nucleobase metabolic process disorder|inborn error of purine nucleobase metabolic process|disorder of purine metabolism|rare inborn error of purine nucleobase metabolic process MedDRA:10061476|Orphanet:79191 owl:Class OBO:CHR_9606-chr8q21.11 biolink:NamedThing chr8q21.11 (Human) tmpak2llvmy_mondo_relaxed.owl 74600000 72000000 hg38 owl:Class MONDO:0002283 biolink:NamedThing neuroaxonal dystrophy A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) tmpak2llvmy_mondo_relaxed.owl DOID:2367|UMLS:C0338473|NCIT:C161542|SCTID:230365004|MESH:D019150 owl:Class MONDO:0024410 biolink:NamedThing infection caused by Bifidobacterium A disease caused by infection with Bifidobacterium. tmpak2llvmy_mondo_relaxed.owl Bifidobacterium infection|infection caused by Bifidobacterium|Bifidobacterium disease or disorder|Bifidobacterium infectious disease|Bifidobacterium caused disease or disorder UMLS:C1096283|SCTID:721759009 owl:Class MONDO:0006706 biolink:NamedThing Bifidobacteriales infectious disease Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. tmpak2llvmy_mondo_relaxed.owl Bifidobacteriales caused disease or disorder|infections, Bifidobacteriales|Bifidobacteriales infection|infection, Bifidobacteriales|Bifidobacteriales disease or disorder UMLS:C1136339|EFO:1000873|MESH:D039941 owl:Class CHEBI:35573 biolink:NamedThing organic mancude parent tmpak2llvmy_mondo_relaxed.owl organic mancude-ring parents|organic mancude parents owl:Class MONDO:0003300 biolink:NamedThing appendix leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the appendix|appendix leiomyoma|leiomyoma of appendix|vermiform appendix leiomyoma|appendiceal leiomyoma|leiomyoma of vermiform appendix DOID:5146|NCIT:C5514|UMLS:C1332327 owl:Class UBERON:0001885 biolink:NamedThing dentate gyrus of hippocampal formation Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer. tmpak2llvmy_mondo_relaxed.owl dentate area (dentate gyrus)|fascia dentata|gyrus dentatus|dentate area|area dentata|dentate gyrus|hippocampal dentate gyrus owl:Class UBERON:0013493 biolink:NamedThing abdominal fascia A fascia that is part of a abdomen. tmpak2llvmy_mondo_relaxed.owl fascia of abdomen|endo-abdominopelvic fascia owl:Class MONDO:0009633 biolink:NamedThing microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma tmpak2llvmy_mondo_relaxed.owl microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma|MSPKA OMIM:251750|UMLS:C3538951 owl:Class MONDO:0016191 biolink:NamedThing qualitative or quantitative defects of titin tmpak2llvmy_mondo_relaxed.owl Orphanet:209053 owl:Class GO:0090394 biolink:NamedThing negative regulation of excitatory postsynaptic potential Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpak2llvmy_mondo_relaxed.owl reduction of excitatory postsynaptic membrane potential|negative regulation of EPSP|negative regulation of excitatory post-synaptic membrane potential owl:Class ENVO:01001057 biolink:NamedThing environment associated with a plant part or small plant An environmental system determined by part of a living or dead plant, or a whole small plant. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700004 biolink:NamedThing idiopathic vs non-idiopathic A disease characteristic in which the cause of the disease is known or unknown. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HsapDv:0000135 biolink:NamedThing 41-year-old human stage Adult stage that refers to an adult who is over 41 and under 42. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000542 biolink:NamedThing lymphocyte A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpak2llvmy_mondo_relaxed.owl VHOG:0001535|FMA:62863|CALOHA:TS-0583|BTO:0000775 Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) cell owl:Class MONDO:0021315 biolink:NamedThing malignant tumor of nasopharynx A cancer that involves the nasopharynx. tmpak2llvmy_mondo_relaxed.owl malignant nasopharyngeal tumor|malignant tumor of the nasopharynx|malignant neoplasm of the nasopharynx|malignant nasopharyngeal neoplasm|cancer of nasopharynx|nasopharynx cancer|malignant nasopharynx neoplasm|malignant neoplasm of nasopharynx NCIT:C9321|ICD9:147.9|UMLS:C0238301|UMLS:C0153392|ICD9:147.8|SCTID:187692001 owl:Class MONDO:0060650 biolink:NamedThing Leber congenital amaurosis with early-onset deafness tmpak2llvmy_mondo_relaxed.owl LCAEOD|Leber congenital amaurosis with early-onset deafness UMLS:CN807950|OMIM:617879 owl:Class MONDO:0000722 biolink:NamedThing non-syndromic synpolydactyly A synpolydactyly that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly DOID:0060242 owl:Class HGNC:3092 biolink:NamedThing DYRK1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015663 biolink:NamedThing diencephalic syndrome Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. tmpak2llvmy_mondo_relaxed.owl diencephalic syndrome of emaciation|diencephalic syndrome of infancy|diencephalic cachexia|Russell diencephalic cachexia|diencephalic syndrome of childhood|Russell syndrome UMLS:C0342436|ICD10:C72.8|UMLS:C0271889|UMLS:CN200089|Orphanet:1672|SCTID:237733001|ICD9:253.8|GARD:0006276|NCIT:C116955 https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome owl:Class MONDO:0016970 biolink:NamedThing partial trisomy of the long arm of chromosome 20 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of the long arm of chromosome 20|partial trisomy of chromosome 20q Orphanet:262995 owl:Class MONDO:0007302 biolink:NamedThing cervical hypertrichosis with underlying kyphoscoliosis tmpak2llvmy_mondo_relaxed.owl hypertrichosis, posterior cervical, with underlying kyphoscoliosis|cervical hypertrichosis with underlying kyphoscoliosis MESH:C566142|UMLS:C1861695|OMIM:117850 owl:Class GO:0004807 biolink:NamedThing triose-phosphate isomerase activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. tmpak2llvmy_mondo_relaxed.owl triose phosphoisomerase activity|triosephosphate mutase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|triose phosphate mutase activity|phosphotriose isomerase activity|D-glyceraldehyde-3-phosphate ketol-isomerase activity|triosephosphate isomerase activity owl:Class GO:0016861 biolink:NamedThing intramolecular oxidoreductase activity, interconverting aldoses and ketoses Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. tmpak2llvmy_mondo_relaxed.owl intramolecular isomerase activity, interconverting aldoses and ketoses owl:Class MONDO:0014813 biolink:NamedThing hypomyelinating leukodystrophy 13 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. tmpak2llvmy_mondo_relaxed.owl leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, 13|leukodystrophy, hypomyelinating, type 13|HLD13|leukodystrophy caused by mutation in hikeshi|hypomyelinating leukodystrophy type 13|HIKESHI leukodystrophy|hikeshi leukodystrophy UMLS:C4225170|DOID:0060795|OMIM:616881 owl:Class HGNC:16252 biolink:NamedThing SUN5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0040500 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 16 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 62|GPIBD16|mental retardation, autosomal recessive 62|glycosylphosphatidylinositol biosynthesis defect 16 OMIM:617816 owl:Class GO:0031400 biolink:NamedThing negative regulation of protein modification process Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpak2llvmy_mondo_relaxed.owl down-regulation of protein modification|down regulation of protein modification|downregulation of protein modification|inhibition of protein modification owl:Class GO:0031399 biolink:NamedThing regulation of protein modification process Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098800 biolink:NamedThing inner mitochondrial membrane protein complex Any protein complex that is part of the inner mitochondrial membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021287 biolink:NamedThing carcinoma in situ of epiglottis A in situ carcinoma that involves the epiglottis. tmpak2llvmy_mondo_relaxed.owl stage 0 epiglottic carcinoma aJCC v7|carcinoma in situ of epiglottis|carcinoma in situ of the Epiglottis|stage 0 epiglottic throat cancer|stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v6|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|Epiglottis carcinoma in situ|epiglottis carcinoma in situ|epiglottic carcinoma in situ|stage 0 epiglottic carcinoma|epiglottis in situ carcinoma NCIT:C4592|SCTID:92584005|UMLS:C0347103 owl:Class MONDO:0004696 biolink:NamedThing larynx carcinoma in situ A in situ carcinoma that involves the larynx. tmpak2llvmy_mondo_relaxed.owl stage 0 carcinoma of larynx|laryngeal carcinoma in situ|stage 0 laryngeal cancer aJCC v8|stage 0 carcinoma of the larynx|stage 0 laryngeal carcinoma|laryngeal carcinoma stage 0|laryngeal cancer stage 0|stage 0 laryngeal cancer aJCC v6|carcinoma in situ of the larynx|stage 0 laryngeal throat cancer|stage 0 laryngeal carcinoma in situ|carcinoma in situ of larynx|stage 0 larynx carcinoma|larynx carcinoma in situ|larynx in situ carcinoma|stage 0 laryngeal cancer|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 laryngeal cancer aJCC v7 SCTID:92634009|UMLS:C0154069|NCIT:C9100|ICD10:D02.0|DOID:9011|ICD9:231.0 owl:Class GO:0001666 biolink:NamedThing response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpak2llvmy_mondo_relaxed.owl response to sustained hypoxia|response to hypoxic stress|response to intermittent hypoxia|response to lowered oxygen tension owl:Class GO:0036293 biolink:NamedThing response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. tmpak2llvmy_mondo_relaxed.owl response to lowered oxygen levels owl:Class FOODON:03411134 biolink:NamedThing mammal Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001092 biolink:NamedThing vertebrate animal food product A food product which is derived from or produced by an animal that has a vertibrae. tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0017705 biolink:NamedThing congenital pulmonary venous return anomaly Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous. tmpak2llvmy_mondo_relaxed.owl total anomalous pulmonary venous return|scimitar anomaly|TAPVR1|scimitar syndrome|TAPVR|anomalous pulmonary venous return|APVR|pulmonary venous return anomaly|congenital pulmonary venous connection anomaly Orphanet:3090|ICD10:Q26.3|GARD:0004599|ICD10:Q26.2|ICD10:Q26.4 owl:Class HGNC:11237 biolink:NamedThing SPG7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003269 biolink:NamedThing skeletal muscle tissue of eye A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl eye skeletal muscle group|skeletal muscle tissue of eye|eye skeletal muscle tissue|eye skeletal muscle owl:Class GO:0050709 biolink:NamedThing negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. tmpak2llvmy_mondo_relaxed.owl downregulation of protein secretion|inhibition of protein secretion|down-regulation of protein secretion|down regulation of protein secretion owl:Class MONDO:0005354 biolink:NamedThing chronic hepatitis C virus infection Chronic form of hepatitis C infection. tmpak2llvmy_mondo_relaxed.owl hepatitis C infection, chronic|chronic Hepatitis C|hepatitis C, chronic ICD9:070.44|MESH:D019698|EFO:0004220 owl:Class MONDO:0016527 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl LDH deficiency|glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|lactate dehydrogenase deficiency Orphanet:2364|GARD:0003159|ICD10:E74.4|MESH:C580233 owl:Class UBERON:0001190 biolink:NamedThing ovarian artery An artery that supplies an ovary. tmpak2llvmy_mondo_relaxed.owl arteria ovarica|ovarian arterial tree owl:Class GO:1903999 biolink:NamedThing negative regulation of eating behavior Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. tmpak2llvmy_mondo_relaxed.owl inhibition of eating behaviour|negative regulation of eating behaviour|down-regulation of eating behaviour|down-regulation of eating behavior|down regulation of eating behavior|downregulation of eating behavior|downregulation of eating behaviour|down regulation of eating behaviour|inhibition of eating behavior owl:Class GO:2000252 biolink:NamedThing negative regulation of feeding behavior Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. tmpak2llvmy_mondo_relaxed.owl negative regulation of feeding behaviour|negative regulation of eating|negative regulation of drinking|negative regulation of behavioral response to food|negative regulation of behavioural response to food owl:Class GO:0050795 biolink:NamedThing regulation of behavior Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpak2llvmy_mondo_relaxed.owl regulation of behaviour owl:Class MONDO:0001479 biolink:NamedThing cutaneous diphtheria A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. tmpak2llvmy_mondo_relaxed.owl cutaneous diphtheria DOID:12275|EFO:1000683|ICD10:A36.3|ICD9:032.85|SCTID:18901009|NCIT:C34544|UMLS:C0012555 owl:Class MONDO:0012673 biolink:NamedThing colorectal cancer, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl CRCS2|colorectal cancer, susceptibility to, on chromosome 8Q24|colorectal cancer, susceptibility to, 2 OMIM:611469 owl:Class MONDO:0009480 biolink:NamedThing Joubert syndrome with oculorenal defect Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. tmpak2llvmy_mondo_relaxed.owl Arima syndrome|JS-OR|Joubert syndrome with Senior-Loken syndrome|CORS|Joubert syndrome with oculorenal anomalies|chorioretinal coloboma with cerebellar vermis aplasia|Cerebellooculorenal syndrome|Joubert syndrome with oculorenal defect|Joubert syndrome 5|Dekaban Arima syndrome|Dekaban-Arima syndrome|JS type B|coloboma, chorioretinal, with cerebellar vermis aplasia|cerebrooculohepatorenal syndrome|cerebello-oculo-renal syndrome|Joubert syndrome with bilateral chorioretinal coloboma|cerebro-oculo-hepato-renal syndrome MESH:C537430|ICD10:Q04.3|UMLS:C1855675|SCTID:721862000|GARD:0009455|OMIM:243910|Orphanet:2318 https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies owl:Class MONDO:0017549 biolink:NamedThing humero-radio-ulnar synostosis, bilateral tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar fusion, bilateral Orphanet:295207|ICD10:Q74.0 owl:Class NCBITaxon:1647 biolink:NamedThing Erysipelothrix tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:7537073 ncbi_taxonomy owl:Class NCBITaxon:128827 biolink:NamedThing Erysipelotrichaceae tmpak2llvmy_mondo_relaxed.owl Erysipelothrix group GC_ID:11|PMID:27270136|PMID:14742484 ncbi_taxonomy owl:Class UBERON:0013748 biolink:NamedThing ulnar metaphysis A metaphysis that is part of a ulna. tmpak2llvmy_mondo_relaxed.owl metaphysis of ulna owl:Class MONDO:0044210 biolink:NamedThing thalassemia minor The inheritance of only one mutated beta-globin allele (beta+ or beta0). tmpak2llvmy_mondo_relaxed.owl beta thalassemia trait SCDO:0000114|ICD10:D56.3|MedDRA:10054662|SCTID:19442009 owl:Class CL:0000723 biolink:NamedThing somatic stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-2086|FMA:63368 cell owl:Class GO:0070874 biolink:NamedThing negative regulation of glycogen metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpak2llvmy_mondo_relaxed.owl negative regulation of glycogen metabolism owl:Class GO:0070873 biolink:NamedThing regulation of glycogen metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpak2llvmy_mondo_relaxed.owl regulation of glycogen metabolism owl:Class GO:0060136 biolink:NamedThing embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018070 biolink:NamedThing familial multiple fibrofolliculoma Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. tmpak2llvmy_mondo_relaxed.owl multiple fibrofolliculoma familial UMLS:C4509837|GARD:0003831|UMLS:CN204388|SCTID:723361006|Orphanet:338 https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial owl:Class MONDO:0012517 biolink:NamedThing atypical Gaucher disease due to saposin C deficiency Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. tmpak2llvmy_mondo_relaxed.owl atypical Gaucher's disease due to saposin c deficiency|PSAP Gaucher disease|Gaucher disease caused by mutation in PSAP|atypical Gaucher disease due to saposin C deficiency|Gaucher disease, atypical, due to saposin C deficiency|Gaucher disease, atypical Orphanet:309252|ICD10:E75.2|DOID:0110961|UMLS:C1864651|GARD:0012503|MESH:C566435|OMIM:610539 owl:Class MONDO:0018150 biolink:NamedThing Gaucher disease Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). tmpak2llvmy_mondo_relaxed.owl lipoid histiocytosis|acid beta-glucosidase deficiency|acute cerebral Gaucher disease|glucosylceramidase deficiency|Gaucher splenomegaly|kerasin histiocytosis|glocucerebrosidase deficiency|Gaucher disease|sphingolipidosis 1|Gaucher's disease|cerebroside lipidosis syndrome|glucosylceramide beta-glucosidase deficiency|glucosyl cerebroside lipidosis|lipoid histiocytosis (kerasin type)|kerasin thesaurismosis|glucocerebrosidosis|glucocerebrosidase deficiency|kerasin lipoidosis|Gaucher syndrome GARD:0008233|ICD10:E75.2|SCTID:190794006|DOID:1926|ICD10:E75.22|MedDRA:10018048|MESH:D005776|Orphanet:355|UMLS:C0017205|NCIT:C61268 owl:Class UBERON:0037458 biolink:NamedThing hair of neck tmpak2llvmy_mondo_relaxed.owl neck hair owl:Class MONDO:0001375 biolink:NamedThing bladder trigone cancer A malignant neoplasm involving the trigone of urinary bladder. tmpak2llvmy_mondo_relaxed.owl trigone of urinary bladder cancer|malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder|cancer of trigone of urinary bladder UMLS:C0496826|SCTID:188239000|DOID:11813|ICD10:C67.0|ICD9:188.0 owl:Class MONDO:0001380 biolink:NamedThing bladder dome cancer Cancer of the upper, convex surface of the bladder. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of dome of urinary bladder|malignant tumor of vault of bladder|cancer of fundus of urinary bladder|malignant fundus of urinary bladder neoplasm|malignant neoplasm of fundus of urinary bladder|superior surface of bladder|malignant neoplasm of apex of urinary bladder|fundus of urinary bladder cancer SCTID:188240003|ICD10:C67.1|ICD9:188.1|UMLS:C0496827|DOID:11820 owl:Class GO:0051926 biolink:NamedThing negative regulation of calcium ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl inhibition of calcium ion transport|down-regulation of calcium ion transport|down regulation of calcium ion transport|negative regulation of calcium transport|downregulation of calcium ion transport owl:Class MONDO:0001229 biolink:NamedThing small intestine diverticulitis A diverticulitis that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl diverticulitis of small intestine|diverticulosis of small intestine with hemorrhage|small intestine diverticulitis SCTID:56165008|DOID:11223|UMLS:C0156164|ICD9:562.01|ICD9:562.02 owl:Class MONDO:0005437 biolink:NamedThing testicular dysgenesis syndrome A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. tmpak2llvmy_mondo_relaxed.owl EFO:0004893|SCTID:445338005|UMLS:C2919755 owl:Class NCIT:C36807 biolink:NamedThing Dysplastic Epithelial Cell tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C36753 biolink:NamedThing Neoplastic Epithelial Cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014970 biolink:NamedThing spermatogenic failure 17 Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 17|azoospermia caused by mutation in PLCZ1|SPGF17|PLCZ1 azoospermia|Male infertility due to oocyte Activation failure|spermatogenic failure type 17|spermatogenic failure 17; SPGF17 UMLS:C4310666|OMIM:617214|DOID:0070174 owl:Class GO:0010605 biolink:NamedThing negative regulation of macromolecule metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030278 biolink:NamedThing regulation of ossification Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpak2llvmy_mondo_relaxed.owl regulation of bone biosynthesis|regulation of bone formation owl:Class MONDO:0004216 biolink:NamedThing pineal region germinoma A germinoma that arises from the pineal gland. tmpak2llvmy_mondo_relaxed.owl pineal germinoma|germinoma GARD:0002005|UMLS:C0854912|NCIT:C8712|MEDGEN:208928|DOID:7428|Orphanet:91352 Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency owl:Class GO:1900005 biolink:NamedThing positive regulation of serine-type endopeptidase activity Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity. tmpak2llvmy_mondo_relaxed.owl up regulation of blood coagulation factor activity|positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity owl:Class MONDO:0000601 biolink:NamedThing autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that involves the genitourinary system. tmpak2llvmy_mondo_relaxed.owl genitourinary system hypersensitivity reaction type II disease|autoimmune disease of genitourinary system|genitourinary system autoimmune disease DOID:0060049 owl:Class MONDO:0015902 biolink:NamedThing major hypertriglyceridemia Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. tmpak2llvmy_mondo_relaxed.owl ICD10:E78.1|Orphanet:181425 owl:Class UBERON:0004733 biolink:NamedThing segmental subdivision of hindbrain An organ subunit that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl segment of hindbrain|hindbrain segment owl:Class MONDO:0011620 biolink:NamedThing metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. tmpak2llvmy_mondo_relaxed.owl metaphyseal dysplasia, Braun-Tinschert type ICD10:Q78.5|MESH:C565271|OMIM:605946|SCTID:717221005|Orphanet:85188|UMLS:C1853825 owl:Class UBERON:0035956 biolink:NamedThing epididymal lumen The lumen of the epididymis tmpak2llvmy_mondo_relaxed.owl epididymis lumen|lumen of epididymis owl:Class MONDO:0700003 biolink:NamedThing obstetric disorder Disorder associated with pregnancy, childbirth, and puerperium. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0018160 biolink:NamedThing hereditary retinoblastoma An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpak2llvmy_mondo_relaxed.owl RB1|familial retinoblastoma|hereditary retinoblastoma OMIM:180200|DOID:4648|Orphanet:357027|NCIT:C8495|ICD10:C69.2 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class GO:0048511 biolink:NamedThing rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. tmpak2llvmy_mondo_relaxed.owl rhythm owl:Class GO:0042321 biolink:NamedThing negative regulation of circadian sleep/wake cycle, sleep Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpak2llvmy_mondo_relaxed.owl down-regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|down regulation of circadian sleep/wake cycle, sleep|inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep owl:Class GO:0048521 biolink:NamedThing negative regulation of behavior Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpak2llvmy_mondo_relaxed.owl down regulation of behavior|down-regulation of behavior|downregulation of behavior|inhibition of behavior owl:Class UBERON:0002279 biolink:NamedThing vestibular aqueduct At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl aqueductus vestibuli owl:Class UBERON:0001292 biolink:NamedThing distal convoluted tubule The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. tmpak2llvmy_mondo_relaxed.owl distal convoluted renal tubule|tubulus contortus distalis|second convoluted tubule|tubulus convolutus distalis owl:Class UBERON:0006853 biolink:NamedThing renal cortex tubule A region of nephron tubule that is part of a cortex of kidney. tmpak2llvmy_mondo_relaxed.owl cortical tubule|kidney cortex tubule owl:Class MONDO:0010218 biolink:NamedThing 46,XX sex reversal 2 tmpak2llvmy_mondo_relaxed.owl 46,XX SEX reversal 2|SRXX2|46,XX sex reversal 2|46,XX Sex reversal type 2|chromosome 17Q24 Duplication syndrome UMLS:C2749215|OMIM:278850|DOID:0111763 owl:Class MONDO:0011858 biolink:NamedThing spastic paraplegia, ataxia, and intellectual disability tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, ataxia, and mental retardation|Spar|spastic paraplegia, ataxia, and intellectual disability OMIM:607565|UMLS:C1843661|MESH:C564378 owl:Class MONDO:0017316 biolink:NamedThing short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). tmpak2llvmy_mondo_relaxed.owl short stature deafness neutrophil dysfunction|thong Douglas Ferrante syndrome|thong-Douglas-Ferrante syndrome SCTID:716192009|ICD10:Q87.1|Orphanet:2866|GARD:0004841 owl:Class MONDO:0020698 biolink:NamedThing inborn error of biotin metabolism tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901021 biolink:NamedThing positive regulation of calcium ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl activation of calcium ion transmembrane transporter activity|upregulation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity|up-regulation of calcium ion transmembrane transporter activity owl:Class UBERON:0009483 biolink:NamedThing mesentery of foregut-midgut junction A mesentery that is part of a foregut-midgut junction. tmpak2llvmy_mondo_relaxed.owl foregut-midgut junction mesentery owl:Class MONDO:0011420 biolink:NamedThing short stature due to partial GHR deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. tmpak2llvmy_mondo_relaxed.owl growth hormone insensitivity, partial|Growth hormone, insensitivity to, partial|Growth hormone deficiency, isolated, partial|increased responsiveness to Growth hormone|GHIP|short stature due to partial growth hormone receptor deficiency OMIM:604271|ICD10:E34.3|Orphanet:314802|MESH:C565805 owl:Class MONDO:0006909 biolink:NamedThing pituitary dwarfism Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. tmpak2llvmy_mondo_relaxed.owl ICD9:253.3|UMLS:C0013338|MESH:D004393|MedDRA:10035083|SCTID:367460001|EFO:1001109 owl:Class MONDO:0017292 biolink:NamedThing well-differentiated fetal adenocarcinoma of the lung Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. tmpak2llvmy_mondo_relaxed.owl fetal adenocarcinoma|well-differentiated fetal lung adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|WDFA|fetal lung adenocarcinoma|pulmonary adenocarcinoma of fetal type Orphanet:284395|NCIT:C45509|ICD10:C34.3|ICD10:C34.1|UMLS:C1708045|UMLS:C1266047|ICD10:C34.2|UMLS:CN202865|ICD10:C34.8|ICDO:8333/3 owl:Class NCBITaxon:11020 biolink:NamedThing Barmah Forest virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005034 biolink:NamedThing thyroid gland follicular carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. tmpak2llvmy_mondo_relaxed.owl follicular cancer of thyroid gland|follicular cancer of the thyroid gland|follicular thyroid cancer|follicular adenocarcinoma, well differentiated|follicular carcinoma of the thyroid gland|thyroid gland adenocarcinoma|thyroid gland follicular cancer|carcinoma of thyroid follicle|follicular adenocarcinoma|thyroid gland follicular carcinoma|follicular thyroid carcinoma|well-differentiated follicular carcinoma|follicular carcinoma of thyroid gland|follicular cancer of thyroid|follicular carcinoma|follicular adenocarcinoma (morphologic abnormality)|follicular adenocarcinoma, well differentiated (morphologic abnormality)|carcinoma, follicular cell, malignant|follicular cancer of the thyroid|follicular carcinoma of the thyroid|thyroid follicular carcinoma|follicular carcinoma of thyroid|follicular thyroid gland carcinoma|thyroid follicle carcinoma|well-differentiated follicular adenocarcinoma NCIT:C8054|HP:0006731|ICDO:8331/3|SCTID:255028004|MESH:D018263|EFO:0000501|DOID:3962|ICDO:8330/3|ONCOTREE:THFO owl:Class MONDO:0012086 biolink:NamedThing autosomal dominant nonsyndromic deafness 31 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3. tmpak2llvmy_mondo_relaxed.owl DFNA31|deafness, autosomal dominant 31|autosomal dominant nonsyndromic deafness type 31|autosomal dominant deafness 31 ICD10:H90.3|DOID:0110561|MESH:C563888|OMIM:608645|UMLS:C1837617 owl:Class HP:0011400 biolink:NamedThing Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormal formation of myelin sheaths UMLS:C4021152 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. peter 2012-03-12T07:24:42Z HP:0002520|HP:0004335 human_phenotype owl:Class HP:0012447 biolink:NamedThing Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. tmpak2llvmy_mondo_relaxed.owl UMLS:C1857704 peter 2013-11-23T03:45:58Z human_phenotype owl:Class MONDO:0024266 biolink:NamedThing patent ductus arteriosus 3 Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene. tmpak2llvmy_mondo_relaxed.owl patent ductus arteriosus caused by mutation in PRDM6|PDA3|PRDM6 patent ductus arteriosus|patent ductus arteriosus 3 OMIM:617039 owl:Class MONDO:0011827 biolink:NamedThing patent ductus arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. tmpak2llvmy_mondo_relaxed.owl PDA|patency of the ductus arteriosus|patent ductus botalli|ductus arteriosus, patent|patent ductus arteriosus familial (type) NCIT:C84492|SCTID:83330001|ICD9:747.0|GARD:0007342|ICD10:Q25.0|DOID:13832|MESH:D004374|OMIMPS:607411 https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus owl:Class UBERON:0007499 biolink:NamedThing epithelial sac An epithelial tube that is open at one end only. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024491 biolink:NamedThing tumor grade 1, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. tmpak2llvmy_mondo_relaxed.owl G1|grade I|well differentiated|low grade|grade 1 LOINC:LA9629-2|NCIT:C28077|UMLS:C0475269 owl:Class UBERON:0035845 biolink:NamedThing enthesis The connective tissue between tendon and bone insertion sites, which acts to transmit tensile load from soft tissues to bone. They may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue the sites where tendons or ligaments insert into the bone. Recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification of the enthesis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017016 biolink:NamedThing primary interstitial lung disease specific to childhood due to alveolar structure disorder tmpak2llvmy_mondo_relaxed.owl primary ILD specific to childhood due to alveolar structure disorder 2022-03-01 Orphanet:264670|UMLS:CN202327 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class UBERON:0013585 biolink:NamedThing metapodium bone 5 A metapodium bone that is part of a digit 5 plus metapodial segment. tmpak2llvmy_mondo_relaxed.owl metapodium 5|metapodium V owl:Class MONDO:0043073 biolink:NamedThing Zadik-Barak-Levin syndrome tmpak2llvmy_mondo_relaxed.owl dermoid cysts, hypothyroidism, cleft palate, and hypodontia|dermoid cysts, hypothyroidism, cleft palate and hypodontia UMLS:C2931298|MESH:C536721|GARD:0000340 owl:Class MONDO:0044113 biolink:NamedThing bullous systemic lupus erythematosus A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. tmpak2llvmy_mondo_relaxed.owl BSLE|bullous systemic lupus erythematosus Orphanet:46489|EFO:0008619|UMLS:C0409977|NCIT:C117104|SCTID:239889005 owl:Class MONDO:0007915 biolink:NamedThing systemic lupus erythematosus An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. tmpak2llvmy_mondo_relaxed.owl SLE - lupus erythematosus, systemic|excess lymphocyte low molecular weight DNA|excess LMW-DNA|systemic lupus erythematosus|systemic lupus erythematosus (disease)|SLE|lupus erythematosus, systemic|disseminated lupus erythematosus systemic lupus erythematosus (disease) OMIM:152700|ICD10:M32.8|DOID:9074|MESH:D008180|NCIT:C3201|ICD9:710.0|EFO:0002690|SCTID:55464009|HP:0002725|ICD10:M32|ICD10:M32.1|ICD10:M32.9|ICD10:M32.0|KEGG:05322|Orphanet:536 owl:Class HGNC:17748 biolink:NamedThing DACT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010403 biolink:NamedThing albinism-deafness syndrome Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. tmpak2llvmy_mondo_relaxed.owl Woolf's syndrome|ADFN|Woolf syndrome|albinism deafness syndrome|Ziprkowski–Margolis syndrome|Alds|albinism-deafness syndrome GARD:0000589|Orphanet:998|MESH:C537042|SCTID:74320008|SCTID:722285005|ICD10:H90.5|OMIM:300700 Editor note: check whether precisely identicial to Woolf syndrome https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome owl:Class MONDO:0019290 biolink:NamedThing hypopigmentation of the skin A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. tmpak2llvmy_mondo_relaxed.owl hypopigmentation of the skin|hypomelanoses|hypomelanosis|hypopigmentation of the skin (disease) hypopigmentation of the skin (disease) HP:0001010|MedDRA:10040868|MESH:D017496|Orphanet:79376 owl:Class GO:0002653 biolink:NamedThing negative regulation of tolerance induction dependent upon immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpak2llvmy_mondo_relaxed.owl down-regulation of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|inhibition of tolerance induction dependent upon immune response|downregulation of tolerance induction dependent upon immune response|down regulation of tolerance induction dependent upon immune response owl:Class MONDO:0017263 biolink:NamedThing inherited ichthyosis syndromic form A inherited ichthyosis that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with inherited ichthyosis|syndromic inherited ichthyosis Orphanet:281085 owl:Class MONDO:0000172 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type B tmpak2llvmy_mondo_relaxed.owl UMLS:CN228400|OMIMPS:613155 owl:Class MONDO:0018546 biolink:NamedThing serotonin syndrome Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). tmpak2llvmy_mondo_relaxed.owl serotonin storm|serotonin toxidrome|serotonin toxicity|serotonergic syndrome EFO:1001842|MedDRA:10040108|MESH:D020230|ICD9:333.99|SCTID:371089000|Orphanet:43116 owl:Class HGNC:3005 biolink:NamedThing DPM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020721 biolink:NamedThing X-linked sideroblastic anemia 1 tmpak2llvmy_mondo_relaxed.owl anemia, hereditary sideroblastic|X-linked sideroblastic anemia|anemia, sideroblastic, X-linked|hereditary iron-loading Anemia|sideroblastic anemia X-linked|anemia, sideroblastic, 1|sideroblastic anemia, X-linked|erythroid 5-aminolevulinate synthase deficiency|anemia, hypochromic|anemia hereditary sideroblastic|ANH1|XLSA|SIDBA1|anemia sex-linked hypochromic sideroblastic|X chromosome-linked sideroblastic anemia GARD:0009456|MESH:C536761|Orphanet:75563|DOID:0060063|ICD10:D64.0|OMIM:300751|SCTID:62677000|UMLS:C0221018 owl:Class MONDO:0056820 biolink:NamedThing nasal cavity and paranasal sinus neoplasm A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl nasal cavity and paranasal sinus neoplasm UMLS:C1334925|NCIT:C7336 Editor note: TODO add uberon term owl:Class MONDO:0007266 biolink:NamedThing hypertrophic cardiomyopathy 2 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy 2|cardiomyopathy, familial hypertrophic, type 2|CMH2|TNNT2 hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|hypertrophic cardiomyopathy type 2|cardiomyopathy, familial hypertrophic, 2 OMIM:115195|DOID:0110308|UMLS:C1861864|NCIT:C142892|MESH:C566171 owl:Class MONDO:0007783 biolink:NamedThing malignant hyperthermia, susceptibility to, 1 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. tmpak2llvmy_mondo_relaxed.owl King syndrome|MHS|malignant hyperthermia, susceptibility to, 1|hyperthermia of anesthesia|malignant hyperthermia of anesthesia caused by mutation in RYR1|malignant hyperthermia susceptibility type 1|RYR1 malignant hyperthermia of anesthesia|MHS1|King-Denborough syndrome|hyperpyrexia, malignant;MH KING syndrome, included|King-Denborough syndrome, included|malignant hyperthermia, susceptibility to, type 1|hyperpyrexia, malignant|susceptibility to malignant hyperthermia 1 UMLS:CN031421|EFO:0009071|GARD:0003363|MESH:C535694|OMIM:145600 https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 owl:Class MONDO:0006005 biolink:NamedThing Venezuelan equine encephalitis A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. tmpak2llvmy_mondo_relaxed.owl Venezuelan equine encephalitis virus caused disease or disorder|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine fever|Venezuelan equine encephalitis virus infectious disease ICD9:066.2|ICD10:A92.2|UMLS:C0014078|MESH:D004685|NCIT:C35121|SCTID:417067005|GARD:0006355|EFO:0007534|DOID:9584 https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis owl:Class MONDO:0007564 biolink:NamedThing pilomatrixoma Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. tmpak2llvmy_mondo_relaxed.owl calcifying epithelioma of Malherbe|PTR|pilomatrixoma|epithelioma calcificans of Malherbe|pilomatricoma|benign hair follicle neoplasm|calcifying Epitherlioma of Malherbe|pilomatrixoma, benign|benign pilomatrixoma|benign pilomatricoma MedDRA:10035040|Orphanet:91414|ICD10:C44.3|NCIT:C7368|UMLS:C0853031|ICDO:8110/0|SCTID:274901004|UMLS:C0206711|GARD:0009452|OMIM:132600|DOID:5374|MESH:D018296|ICD10:C44.6|EFO:0009082 https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma owl:Class MONDO:0003413 biolink:NamedThing hair follicle neoplasm A benign or malignant neoplasm arising from the hair follicle. tmpak2llvmy_mondo_relaxed.owl tumor of hair follicle|hair follicle neoplasm (disease)|hair matrix tumour|hair follicle neoplasm|neoplasm of the hair follicle|hair matrix tumor|hair matrix neoplasm|hair follicle tumor|neoplasm of hair follicle DOID:5375|NCIT:C7367|UMLS:C0859920 owl:Class MONDO:0007150 biolink:NamedThing arcus senilis A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. tmpak2llvmy_mondo_relaxed.owl arcus corneae|arcus of cornea|arcus senilis|corneal arcus UMLS:C0003742|ICD10:H18.41|SCTID:231924000|DOID:11342|MedDRA:10003082|MESH:D001112|OMIM:107800|EFO:1000818 owl:Class MONDO:0001515 biolink:NamedThing corneal degeneration tmpak2llvmy_mondo_relaxed.owl DOID:1237|ICD9:371.49|SCTID:111521006|ICD9:371.40|ICD10:H18.4|ICD10:H18.40|UMLS:C0155118|ICD9:371.4 owl:Class MONDO:0020595 biolink:NamedThing disease of retroperitoneum A disease or disorder that involves the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl disease of retroperitoneal space|retroperitoneal space disease or disorder|disorder of retroperitoneal space|retroperitoneal space disease|disease or disorder of retroperitoneal space|retroperitoneal disorder|retroperitoneal disease NCIT:C27667|SCTID:734045002 owl:Class MONDO:0017758 biolink:NamedThing disorder of vitamin and non-protein cofactor absorption and transport tmpak2llvmy_mondo_relaxed.owl disorder of vitamin and non-protein cofactor absorption and transport UMLS:CN227203|Orphanet:309827 owl:Class MONDO:0009071 biolink:NamedThing hereditary renal hypouricemia Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). tmpak2llvmy_mondo_relaxed.owl Dalmatian hypouricemia|hypouricemia, renal|renal hypouricemia GARD:0009496|ICD9:790.6|MESH:C537757|Orphanet:94088|SCTID:236478009 owl:Class MONDO:0021424 biolink:NamedThing hemangiopericytoma of skin A hemangiopericytoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl skin hemangiopericytoma|zone of skin hemangiopericytoma|hemangiopericytoma of the skin NCIT:C4492|SCTID:254796009|UMLS:C0346084 owl:Class GO:1903282 biolink:NamedThing regulation of glutathione peroxidase activity Any process that modulates the frequency, rate or extent of glutathione peroxidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of glutathione:hydrogen-peroxide oxidoreductase activity|regulation of reduced glutathione peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of GSH peroxidase activity|regulation of non-selenium glutathione peroxidase activity owl:Class GO:2000468 biolink:NamedThing regulation of peroxidase activity Any process that modulates the frequency, rate or extent of peroxidase activity. tmpak2llvmy_mondo_relaxed.owl regulation of donor:hydrogen-peroxide oxidoreductase activity|regulation of oxyperoxidase activity|regulation of peroxidase reaction owl:Class MONDO:0006802 biolink:NamedThing inappropriate ADH syndrome A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. tmpak2llvmy_mondo_relaxed.owl syndrome of inappropriate antidiuretic hormone secretion|inappropriate ADH secretion|syndrome of inappropriate secretion of ADH|inappropriate antidiuretic hormone secretion syndrome|inappropriate Arginine vasopressin secretion|ectopic ADH secretion|SIADH|syndrome of inappropriate secretion of antidiuretic hormone|syndrome of inappropriate vasopressin secretion|syndrome of inappropriate antidiuretic hormone|ectopic antidiuretic hormone secretion DOID:3401|MESH:D007177|ICD10:E22.2|MedDRA:10042818|UMLS:C0021141|ICD9:253.6|SCTID:55004003|EFO:1000982|NCIT:C3988 owl:Class MONDO:0045072 biolink:NamedThing ectopic hormone secretion syndrome associated with neoplasia Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. tmpak2llvmy_mondo_relaxed.owl ectopic hormone secretion syndrome associated with neoplasia|neoplasm associated ectopic hormone secretion syndrome NCIT:C4065|UMLS:C0851689 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0000940 biolink:NamedThing trypanosomiasis Infection with protozoa of the genus trypanosoma. tmpak2llvmy_mondo_relaxed.owl Trypanosoma caused disease or disorder|Trypanosoma disease or disorder|Trypanosoma infectious disease|Trypanosomiases ICD9:086|DOID:10113|ICD10:B56|ICD9:086.9|ICD10:B57.2|UMLS:C0041227|SCTID:78940002|MESH:D014352 owl:Class NCBITaxon:314145 biolink:NamedThing Laurasiatheria tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:11214319|PMID:12878460|PMID:11214318 ncbi_taxonomy owl:Class MONDO:0003046 biolink:NamedThing anus neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. tmpak2llvmy_mondo_relaxed.owl anus neoplasm|anal tumor|anal tumors|neoplasm of anus|anal neoplasms, benign and malignant|tumor of the anus|anal neoplasm|neoplasm of the anus|tumor of anus|anus tumor|anus neoplasm (disease) SCTID:126849006|DOID:4551|UMLS:C0003463|EFO:0003835|MESH:D001005|NCIT:C2877 owl:Class MONDO:0015433 biolink:NamedThing ring chromosome 17 Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. tmpak2llvmy_mondo_relaxed.owl Ring chromosome type 17|chromosome 17 ring|R17|Ring chromosome 17 syndrome|Ring 17 Orphanet:1441|MESH:C538046|GARD:0004724|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 owl:Class MONDO:0040566 biolink:NamedThing inherited glutathione metabolism disease An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of glutathione metabolic process|glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder|inborn error of glutathione metabolic process|inborn error of glutathione metabolism UMLS:C0268518|SCTID:72262000 owl:Class UBERON:0010256 biolink:NamedThing 4th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 4th arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl neural crest derived arch 4 mesenchyme|branchial arch 4 mesenchyme from neural crest|pharyngeal arch 4 mesenchyme from neural crest|mesenchyme derived from neural crest of mesenchyme of 4th arch|4th pharyngeal arch mesenchyme derived from neural crest owl:Class MONDO:0009564 biolink:NamedThing Marden-Walker syndrome Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. tmpak2llvmy_mondo_relaxed.owl MWKS|Marden-Walker syndrome|connective tissue disorder Marden Walker type|Mws|MARDEN-WALKER syndrome SCTID:449824004|ICD9:759.89|MESH:C535910|ICD10:Q87.0|GARD:0006973|Orphanet:2461|OMIM:248700 owl:Class MONDO:0005308 biolink:NamedThing ciliopathy A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. tmpak2llvmy_mondo_relaxed.owl ciliopathy|ciliopathies EFO:0003900|Orphanet:363250|UMLS:CN580792|DOID:0060340|GTR:AN0966173 owl:Class HGNC:3858 biolink:NamedThing FRA16B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014388 biolink:NamedThing kidney collecting duct epithelium The simple cuboidal epithelium lining the lumen of kidney collecting ducts. tmpak2llvmy_mondo_relaxed.owl epithelium of renal collecting tubule|collecting duct of renal tubule epithelium|epithelium of collecting duct of renal tubule owl:Class MONDO:0013649 biolink:NamedThing hypotrichosis 9 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. tmpak2llvmy_mondo_relaxed.owl hypotrichosis type 9|HYPT9|hypt9|hypotrichosis 9 OMIM:614237|DOID:0110706|UMLS:C3280252 owl:Class MONDO:0010622 biolink:NamedThing recessive X-linked ichthyosis Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. tmpak2llvmy_mondo_relaxed.owl ichthyosis, X-linked, complicated|XLI|recessive X-linked ichthyosis|ichthyosis, X-linked|steroid sulfatase deficiency disease|placental steroid sulfatase deficiency|X linked ichthyosis|ichthyosis (disease), X-linked|SSDD|X-linked placental steryl-sulphatase deficiency|steroid sulfatase deficiency|X-linked ichthyosis|X-linked recessive ichthyosis|RXLI|STS deficiency|X-linked ichthyosis with steryl-sulphatase deficiency Orphanet:461|OMIM:308100|DOID:1700|GARD:0007904|MedDRA:10048063|ICD10:Q80.1|SCTID:3944006|UMLS:C0079588|NCIT:C84779 owl:Class UBERON:0015181 biolink:NamedThing neck of tooth The slightly constricted part of a tooth, between the crown and the root. tmpak2llvmy_mondo_relaxed.owl cervix of tooth|cervical zone of tooth|tooth neck|dental neck|cervical margin of tooth|collumn dentis|cervix dentis owl:Class MONDO:0024886 biolink:NamedThing serous adenofibroma A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential. tmpak2llvmy_mondo_relaxed.owl serous adenofibroma ICDO:9014/0|NCIT:C67090|UMLS:C0334498 owl:Class PR:000001015 biolink:NamedThing receptor-type tyrosine-protein phosphatase C isoform CD45RA tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000050216 biolink:NamedThing receptor-type tyrosine-protein phosphatase C isoform CD45R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013709 biolink:NamedThing intellectual disability, autosomal recessive 28 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 28|MRT28|intellectual disability, autosomal recessive 28 UMLS:C3280545|OMIM:614347 owl:Class MONDO:0010886 biolink:NamedThing 2q37 microdeletion syndrome Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl deletion 2q37-qter|2q37 microdeletion syndrome|brachydactyly-intellectual disability syndrome|monosomy 2q37-qter|Albright hereditary osteodystrophy-like syndrome|brachydactyly intellectual disability syndrome|Albright hereditary osteodystrophy type 3|BDMR|brachydactyly mental retardation syndrome|Del(2)(q37)|brachydactyly-mental retardation syndrome|deletion 2q37|chromosome 2q37 deletion syndrome|2q37 deletion syndrome ICD10:Q93.5|OMIM:600430|NCIT:C129021|DOID:0111704|MESH:C538317|Orphanet:1001|GARD:0010202|UMLS:C2931817|SCTID:702357000|ICD9:758.39 owl:Class GO:0003071 biolink:NamedThing renal system process involved in regulation of systemic arterial blood pressure Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpak2llvmy_mondo_relaxed.owl renal regulation of systemic arterial blood pressure|renal control of blood pressure owl:Class GO:0003014 biolink:NamedThing renal system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). tmpak2llvmy_mondo_relaxed.owl kidney system process|excretory system process owl:Class GO:0043269 biolink:NamedThing regulation of ion transport Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030431 biolink:NamedThing sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. tmpak2llvmy_mondo_relaxed.owl dormancy|diapause|lethargus owl:Class HGNC:2472 biolink:NamedThing CSRP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025062 biolink:NamedThing encephalomyelitis, enzootic porcine A picornavirus infection producing symptoms similar to poliomyelitis in pigs. tmpak2llvmy_mondo_relaxed.owl poliomyelitis, porcine|porcine poliomyelitis|enzootic porcine encephalomyelitis|disease, Talfan|disease, Teschen|porcine encephalomyelitis, enzootic|Talfan disease|Teschen disease MESH:D004682 owl:Class MONDO:0009379 biolink:NamedThing Rotor syndrome Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. tmpak2llvmy_mondo_relaxed.owl Rotor-type hyperbilirubinemia|hyperbilirubinemia, ROTOR type|HBLRR|hyperbilirubinemia, Rotor type|Rotor syndrome OMIM:237450|UMLS:C0220991|ICD10:E80.6|GARD:0000218|MedDRA:10039234|SCTID:32891000|Orphanet:3111 https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome owl:Class MONDO:0007763 biolink:NamedThing nonpapillary renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl hypernephroma|renal cell carcinoma, nonpapillary|nonpapillary renal carcinoma 1 locus|clear cell renal cell carcinoma|RCC|CCRCC|adenocarcinoma of kidney|clear cell renal cell adenocarcinoma Orphanet:319276|OMIM:144700|ICD10:C64|DOID:0050387 https://github.com/monarch-initiative/mondo/issues/2262 owl:Class CL:0000764 biolink:NamedThing erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. tmpak2llvmy_mondo_relaxed.owl erythropoietic cell CALOHA:TS-0290|FMA:62845|FMA:83516 Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. CL:0002156 cell owl:Class GO:0015318 biolink:NamedThing inorganic molecular entity transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. tmpak2llvmy_mondo_relaxed.owl inorganic uptake permease activity|inorganic solute uptake transmembrane transporter activity owl:Class UBERON:0003531 biolink:NamedThing forelimb skin A zone of skin that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of fore limb|anteriormost limb skin|upper limb skin|wing skin|skin of upper limb|fore limb skin|skin of forelimb owl:Class UBERON:0004544 biolink:NamedThing epididymis epithelium the layer of secretory cells which lines the epididymis tmpak2llvmy_mondo_relaxed.owl epididymis epithelium|epithelium of epididymis owl:Class OBO:CHR_9606-chr8q22 biolink:NamedThing chr8q22 (Human) tmpak2llvmy_mondo_relaxed.owl 105100000 92300000 hg38 owl:Class MONDO:0008454 biolink:NamedThing spinal intradural arachnoid cysts Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery. tmpak2llvmy_mondo_relaxed.owl spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural MESH:C536878|GARD:0009701|OMIM:182990 https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts owl:Class MONDO:0008813 biolink:NamedThing arachnoid cyst Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) tmpak2llvmy_mondo_relaxed.owl arachnoid cysts MESH:D016080|Orphanet:2356|GARD:0000017|NCIT:C3455|UMLS:C0078981|ICD10:G93.0|MedDRA:10049005|SCTID:33595009 https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts owl:Class MONDO:0004136 biolink:NamedThing ovarian endometrioid cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. tmpak2llvmy_mondo_relaxed.owl ovarian endometrioid cystadenoma DOID:7191|UMLS:C1518713|NCIT:C40075 owl:Class MONDO:0005183 biolink:NamedThing ovarian cystadenoma A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. tmpak2llvmy_mondo_relaxed.owl cystadenoma of the ovary|ovarian cystadenoma|benign ovarian cystadenoma|simple ovarian cystoma|simple cystoma of ovary|cystoma serosum simplex|ovary cystadenoma|simple cystoma of the ovary|cystadenoma of ovary|benign cystadenoma of the ovary|benign cystadenoma of ovary ICD9:620.2|SCTID:198297004|DOID:3269|EFO:0002511|NCIT:C4060|UMLS:C0346169 owl:Class MONDO:0043330 biolink:NamedThing Mirizzi syndrome Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. tmpak2llvmy_mondo_relaxed.owl Mirizzi syndrome|syndrome, Mirizzi|hepatic duct dystonia syndrome|mirizzi's syndrome|syndrome, Mirizzi's|Mirizzis syndrome|Mirizzi's syndrome MESH:D057792|UMLS:C0267878|Orphanet:521219|EFO:1001860|GARD:0010177|SCTID:4283007 owl:Class MONDO:0006757 biolink:NamedThing extrahepatic cholestasis Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. tmpak2llvmy_mondo_relaxed.owl extrahepatic obstructive biliary disease|cholestasis of extrahepatic bile duct|extrahepatic cholestasis (finding)|extrahepatic biliary stasis|extrahepatic bile duct cholestasis EFO:1000933|DOID:13619|UMLS:C0005398|SCTID:8262006|MESH:D001651|MedDRA:10008637 owl:Class MONDO:0043233 biolink:NamedThing exfoliative dermatitis The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl exfoliative dermatitis|Dermatitides, exfoliative|erythroderma|dermatitis exfoliativa|Erythrodermas|exfoliative Dermatitides GARD:0006393|MESH:D003873|UMLS:C0011606|NCIT:C39646|SCTID:399992009 owl:Class MONDO:0005404 biolink:NamedThing myalgic encephalomeyelitis/chronic fatigue syndrome A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. tmpak2llvmy_mondo_relaxed.owl systemic exertion intolerance disease|CFS|myalgic encephalitis|Postviral fatigue syndrome|chronic fatigue syndrome|myalgic encephalomyelitis UMLS:C0015674|ICD10:G93.3|ICD9:780.79|NCIT:C3037|EFO:0004540|ICD9:780.71|DOID:8544|ICD10:R53.82|MESH:D015673|SCTID:51771007 owl:Class GO:0065009 biolink:NamedThing regulation of molecular function Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpak2llvmy_mondo_relaxed.owl regulation of a molecular function owl:Class NCBITaxon:12066 biolink:NamedThing Coxsackievirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:90010 biolink:NamedThing unclassified Enterovirus tmpak2llvmy_mondo_relaxed.owl unclassified Enteroviruses GC_ID:1 ncbi_taxonomy owl:Class GO:0000229 biolink:NamedThing cytoplasmic chromosome A chromosome found in the cytoplasm. tmpak2llvmy_mondo_relaxed.owl cytoplasmic interphase chromosome owl:Class MONDO:0015631 biolink:NamedThing von Willebrand disease type 2N Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). tmpak2llvmy_mondo_relaxed.owl von Willebrand disease, type 2N|von Willebrand disease Normandy variant SCTID:359732009|ICD10:D68.0|NCIT:C131689|UMLS:C1282975|Orphanet:166093 owl:Class MONDO:0013304 biolink:NamedThing von Willebrand disease 2 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). tmpak2llvmy_mondo_relaxed.owl VWD, type 2|von Willebrand disease type II|von willebrand's disease 2|Von Willebrand disease, type 2A|Von Willebrand disease, type 2M|von Willebrand disease 2|Von Willebrand disease, type 2|Von Willebrand disease, type 2N|Von Willebrand disease, type 2B|VWD type 2|von Willebrand's disease type 2|VWD2|von Willebrand disease type 2|VON WILLEBRAND disease, type 2 DOID:0060574|ICD10:D68.0|UMLS:C1264040|SCTID:128107007|OMIM:613554|MESH:D056728|Orphanet:166081 owl:Class CL:0000060 biolink:NamedThing odontoblast Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0696|FMA:62999|BTO:0001769 legacy def: One of the cells forming the outer surface of dental pulp that produces tooth dentin. cell owl:Class MONDO:0012787 biolink:NamedThing hereditary spastic paraplegia 39 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia due to neuropathy target esterase mutation|NTEMND|spastic paraplegia due to NTE mutation|hereditary spastic paraplegia type 39|autosomal recessive spastic paraplegia 39|NTE-related motor neuron disorder|autosomal recessive spastic paraplegia type 39|SPG39|spastic paraplegia 39, autosomal recessive|PNPLA6 hereditary spastic paraplegia|spastic paraplegia 39|hereditary spastic paraplegia caused by mutation in PNPLA6|NTE related motor neuron disorder OMIM:612020|MESH:C567433|UMLS:C2677586|GARD:0004924|Orphanet:139480|DOID:0110790|ICD10:G11.4|UMLS:C4304963|SCTID:719103009 owl:Class MONDO:0005957 biolink:NamedThing setariasis Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. tmpak2llvmy_mondo_relaxed.owl infectious disease by Setaria|Setaria disease or disorder|Setaria caused disease or disorder|Setaria infectious disease EFO:0007482|SCTID:4414005|DOID:1079|UMLS:C0036850|MESH:D012719 owl:Class MONDO:0016956 biolink:NamedThing partial trisomy of the long arm of chromosome 5 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial trisomy of the long arm of chromosome type 5|5q duplication|partial trisomy 5q|chromosome 5q duplication|partial duplication of the long arm of chromosome 5|Duplication 5q|partial trisomy of chromosome 5q|5q trisomy|trisomy 5q|partial duplication of chromosome 5q Orphanet:262869|GARD:0005351|MESH:C537650|UMLS:C1802398 owl:Class MONDO:0020667 biolink:NamedThing Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis tmpak2llvmy_mondo_relaxed.owl multisynostotic osteodysgenesis with long bone fractures|ABS2|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis Syndrome|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 owl:Class UBERON:0001490 biolink:NamedThing elbow joint A joint that connects the forelimb zeugopod and stylopod skeletons[Obol]. tmpak2llvmy_mondo_relaxed.owl joint of cubital region|cubital region joint|joint of elbow|articulatio cubiti owl:Class MONDO:0009516 biolink:NamedThing absence deformity of leg-cataract syndrome Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. tmpak2llvmy_mondo_relaxed.owl leg, absence deformity of, with congenital cataract Orphanet:2310|MESH:C565442|OMIM:246000|UMLS:C1855523 owl:Class MONDO:0023042 biolink:NamedThing ectodermal dysplasia margarita type tmpak2llvmy_mondo_relaxed.owl GARD:0002050 https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type owl:Class MONDO:0009400 biolink:NamedThing hyperprolinemia type 1 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). tmpak2llvmy_mondo_relaxed.owl hyperprolinemia type 1|PRODH hyperprolinemia|HYRPRO1|hyperprolinemia caused by mutation in PRODH|hyperprolinemia, type 1|proline oxidase deficiency|hyperprolinemia, type I|HPI ICD9:270.8|SCTID:61071003|ICD10:E72.5|OMIM:239500|Orphanet:419|DOID:0080542|MedDRA:10058513 owl:Class MONDO:0014892 biolink:NamedThing micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 44|mental retardation, autosomal dominant 44|autosomal dominant mental retardation 44|autosomal dominant intellectual disability 44|mercer-Ba syndrome|intellectual disability, autosomal dominant 44|MRD44|MEBAS OMIM:617061|DOID:0070074|UMLS:C4310740|Orphanet:476126 owl:Class IAO:8000008 biolink:NamedThing analysis subset ontology module An ontology module that is intended for usage in analysis or discovery applications. tmpak2llvmy_mondo_relaxed.owl analysis ontology module owl:Class MONDO:0044742 biolink:NamedThing autosomal recessive epidermolytic ichthyosis tmpak2llvmy_mondo_relaxed.owl AREI Orphanet:512103 owl:Class HGNC:11766 biolink:NamedThing TGFB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000819 biolink:NamedThing Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. tmpak2llvmy_mondo_relaxed.owl UMLS:C0011849|SNOMEDCT_US:73211009|MSH:D003920 HP:0004908|HP:0008234|HP:0008260|HP:0008217 human_phenotype owl:Class UBERON:0017750 biolink:NamedThing proximal mesopodial endochondral element A mesopodial endochondral element that is in the most proximal part of the mesopodial skeleton, connected to the zeugopodial skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002697 biolink:NamedThing regulation of immune effector process Any process that modulates the frequency, rate, or extent of an immune effector process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010946 biolink:NamedThing hypertrophic cardiomyopathy 6 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic 6|cardiomyopathy, familial hypertrophic, 6|cardiomyopathy, familial hypertrophic, type 6|PRKAG2 hypertrophic cardiomyopathy|CMH6|hypertrophic cardiomyopathy 6|hypertrophic cardiomyopathy type 6|hypertrophic cardiomyopathy caused by mutation in PRKAG2 DOID:0110312|UMLS:C1833236|MESH:C563436|OMIM:600858 owl:Class MONDO:0014476 biolink:NamedThing episodic ataxia type 8 tmpak2llvmy_mondo_relaxed.owl EA8|episodic ataxia, type 8|episodic ataxia with slurred speech|episodic ataxia type 8 OMIM:616055|DOID:0050996|Orphanet:401953|ICD10:G11.8|UMLS:C4015108 owl:Class GO:0046504 biolink:NamedThing glycerol ether biosynthetic process The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpak2llvmy_mondo_relaxed.owl glycerol ether biosynthesis|glycerol ether formation|glycerol ether anabolism|glycerol ether synthesis owl:Class GO:1901503 biolink:NamedThing ether biosynthetic process The chemical reactions and pathways resulting in the formation of ether. tmpak2llvmy_mondo_relaxed.owl ether synthesis|ether biosynthesis|ether formation|ether anabolism owl:Class MONDO:0013902 biolink:NamedThing aortic valve disease 2 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. tmpak2llvmy_mondo_relaxed.owl aortic valve disease caused by mutation in SMAD6|aortic valve disease type 2|aortic valve stenosis|SMAD6 aortic valve disease|aortic valve disease 2|AOVD2|bicuspid aortic valve OMIM:614823|UMLS:C3542024|DOID:0080334 owl:Class MONDO:0007101 biolink:NamedThing familial primary localized cutaneous amyloidosis tmpak2llvmy_mondo_relaxed.owl FPLCA|hereditary primary cutaneous amyloidosis|primary localized cutaneous amyloidosis UMLS:CN204529|Orphanet:353220|ICD10:E85.4+|MESH:C562643|OMIMPS:105250|ICD10:L99.0* owl:Class MONDO:0018634 biolink:NamedThing hereditary amyloidosis Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. tmpak2llvmy_mondo_relaxed.owl amyloidosis hereditary|amyloidosis, Familial|familial amyloidosis|hereditary amyloidosis (disease) UMLS:C0206246|SCTID:367601000119103|GARD:0006611|NCIT:C84555|Orphanet:444116|MESH:D028226 https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis owl:Class HGNC:11425 biolink:NamedThing STS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003547 biolink:NamedThing brain meninx A meninx that is part of a brain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl meninges of brain|meninx of brain|brain meninges owl:Class MONDO:0015216 biolink:NamedThing syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with diaphragmatic or abdominal wall malformation|syndromic diaphragmatic or abdominal wall malformation Orphanet:108979|UMLS:CN226633 owl:Class MONDO:0007981 biolink:NamedThing metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A tmpak2llvmy_mondo_relaxed.owl metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A OMIM:156310|MESH:C563587|UMLS:C1835007 owl:Class HGNC:25419 biolink:NamedThing ARL13B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004919 biolink:NamedThing infected hydrocele tmpak2llvmy_mondo_relaxed.owl ICD10:N43.1|UMLS:C0156300|ICD9:603.1|SCTID:11666007|DOID:9911 owl:Class MONDO:0004920 biolink:NamedThing hydrocele tmpak2llvmy_mondo_relaxed.owl ICD9:603.9|SCTID:55434001|ICD9:603.8|DOID:9912 owl:Class HGNC:10294 biolink:NamedThing RPE65 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002164 biolink:NamedThing Nail dysplasia The presence of developmental dysplasia of the nail. tmpak2llvmy_mondo_relaxed.owl Atypical nail growth|Onychodysplasia|Dysplastic nails UMLS:C1834405 HP:0001797|HP:0008409|HP:0008403|HP:0001793|HP:0001794|HP:0008387|HP:0008412 human_phenotype owl:Class MONDO:0014810 biolink:NamedThing pancytopenia due to IKZF1 mutations Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. tmpak2llvmy_mondo_relaxed.owl syndrome with combined immunodeficiency caused by mutation in IKZF1|Cid due to IKAROS deficiency|combined immunodeficiency due to IKAROS deficiency|immunodeficiency, common variable, 13|immunodeficiency, common variable, type 13|CVID13|IKZF1 syndrome with combined immunodeficiency UMLS:C4225173|OMIM:616873|Orphanet:317473|ICD10:D81.8 owl:Class MONDO:0005379 biolink:NamedThing neurotic disorder A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. tmpak2llvmy_mondo_relaxed.owl disorders, neurotic|neurosis|psychoneurosis|neurotic depressive state|psychoneurosis NOS|neuroses|neurotic disorder|Psychoneuroses|disorder, neurotic|neurotic depression|depressive neurosis|reactive depression|neurotic depression reactive type NCIT:C34848|ICD9:300.89|MESH:D009497|DOID:4964|ICD10:F34.1|ICD10:F48.9|EFO:0004257|SCTID:111475002|ICD9:300.9 owl:Class MONDO:0005618 biolink:NamedThing anxiety disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. tmpak2llvmy_mondo_relaxed.owl anxiety|anxiety disorder|anxiety state SCTID:197480006|ICD10:F41.9|DOID:2030|EFO:0006788|NCIT:C2878|MESH:D001008|ICD9:300.09 owl:Class MONDO:0014107 biolink:NamedThing hypogonadotropic hypogonadism 21 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in FLRT3|hypogonadotropic hypogonadism 21 with or without anosmia|HH21|FLRT3 hypogonadotropic hypogonadism OMIM:615271|ICD10:E23.0|UMLS:C3808986|DOID:0090093 owl:Class GO:0035809 biolink:NamedThing regulation of urine volume Any process that modulates the amount of urine excreted from the body over a unit of time. tmpak2llvmy_mondo_relaxed.owl regulation of urinary volume|regulation of urine flow owl:Class CL:0002224 biolink:NamedThing lens epithelial cell A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth. tmpak2llvmy_mondo_relaxed.owl FMA:67559 tmeehan 2010-09-07T10:45:47Z cell owl:Class UBERON:0001576 biolink:NamedThing intrinsic muscle of tongue The intrinsic tongue muscles are an integral part of the tongue and completely contained within the tongue that are innervated by Cranial Nerve XII. tmpak2llvmy_mondo_relaxed.owl intrinsic tongue muscle|intrinsic lingual muscle owl:Class UBERON:0000378 biolink:NamedThing tongue muscle The muscular portion of the tongue. tmpak2llvmy_mondo_relaxed.owl tongue skeletal muscle|muscle of tongue|skeletal muscle tissue of tongue|musculi linguae|muscle organ of tongue|tongue skeletal muscle tissue owl:Class HP:0031690 biolink:NamedThing Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpak2llvmy_mondo_relaxed.owl 2017-12-17 22:11:49+00:00 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. peter human_phenotype owl:Class HP:0032101 biolink:NamedThing Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. tmpak2llvmy_mondo_relaxed.owl 2018-11-04 22:23:03+00:00 peter human_phenotype owl:Class MONDO:0015743 biolink:NamedThing idiopathic bilateral vestibulopathy Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. tmpak2llvmy_mondo_relaxed.owl UMLS:C4545229|SCTID:737580004|ICD10:H81.8|Orphanet:171684 owl:Class UBERON:0010949 biolink:NamedThing sternooccipital muscle A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum. tmpak2llvmy_mondo_relaxed.owl sternooccipital owl:Class MONDO:0009177 biolink:NamedThing late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders|epidermolysis bullosa, late-onset localized junctional, with intellectual disability UMLS:C1856969|MESH:C535492|Orphanet:231556|GARD:0000299|OMIM:226440|ICD10:Q81.8 owl:Class MONDO:0014268 biolink:NamedThing combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency with impaired immunity to HHV-8|immunodeficiency type 16|combined immunodeficiency with impaired immunity to human herpes virus 8|OX40 deficiency|combined immunodeficiency with childhood-onset Kaposi sarcoma|IMD16|immunodeficiency 16 SCTID:766879006|Orphanet:431149|UMLS:C3810053|ICD10:D81.8|OMIM:615593 owl:Class MONDO:0008389 biolink:NamedThing autosomal dominant Robinow syndrome Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. tmpak2llvmy_mondo_relaxed.owl Robinow syndrome, autosomal dominant type|Robinow syndrome, autosomal dominant|autosomal dominant Robinow syndrome SCTID:76520005|UMLS:CN203673|ICD10:Q87.1|Orphanet:3107|ICD9:759.89 owl:Class MONDO:0037744 biolink:NamedThing neoplasm of retromolar area tmpak2llvmy_mondo_relaxed.owl neoplasm of retromolar area|tumor of retromolar area SCTID:126804008|UMLS:C0345590 owl:Class MONDO:0015284 biolink:NamedThing heart-hand syndrome type 2 Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). tmpak2llvmy_mondo_relaxed.owl Tabatznik syndrome|atriodigital dysplasia type 2|heart-hand syndrome 2 UMLS:C2931323|SCTID:721010003|GARD:0009847|ICD10:Q87.2|Orphanet:1350|MESH:C536784 owl:Class GO:0071625 biolink:NamedThing vocalization behavior The behavior in which an organism produces sounds by a mechanism involving its respiratory system. tmpak2llvmy_mondo_relaxed.owl vocalisation behaviour owl:Class UBERON:0007172 biolink:NamedThing angle of scapula tmpak2llvmy_mondo_relaxed.owl scapular angle owl:Class GO:1905881 biolink:NamedThing positive regulation of oogenesis Any process that activates or increases the frequency, rate or extent of oogenesis. tmpak2llvmy_mondo_relaxed.owl up-regulation of oogenesis|activation of ovum development|activation of oogenesis|positive regulation of ovum development|upregulation of oogenesis|up-regulation of ovum development|up regulation of oogenesis|upregulation of ovum development|up regulation of ovum development owl:Class MONDO:0005392 biolink:NamedThing scoliosis A congenital or acquired spinal deformity characterized by lateral curvature of the spine. tmpak2llvmy_mondo_relaxed.owl ICD10:M41.9|SCTID:298382003|ICD10:M41|HP:0002650|DOID:0060249|EFO:0004273|ICD9:737.43|MESH:D012600|NCIT:C78603 owl:Class ENVO:01001147 biolink:NamedThing helium planet A gas planet which has an atmosphere composed primarily of helium. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001122 biolink:NamedThing gas planet A planet which is primarily composed of hydrogen and helium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011340 biolink:NamedThing congenital tracheal stenosis tmpak2llvmy_mondo_relaxed.owl tracheobronchial stenosis, congenital OMIM:603569|GARD:0012008|ICD9:748.3|SCTID:9660004|MESH:C566362|Orphanet:141127|ICD10:Q32.1 https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis owl:Class MONDO:0015505 biolink:NamedThing tracheal anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:156252 owl:Class NCBITaxon:5302 biolink:NamedThing Agaricomycotina tmpak2llvmy_mondo_relaxed.owl Hymenomycetes GC_ID:1 ncbi_taxonomy owl:Class CL:0000023 biolink:NamedThing oocyte A female germ cell that has entered meiosis. tmpak2llvmy_mondo_relaxed.owl oogonium BTO:0000964|WBbt:0006797|FBbt:00004886|FMA:18644|CALOHA:TS-0711 cell owl:Class CL:0000021 biolink:NamedThing female germ cell Female germ cell is a germ cell that supports female gamete production. tmpak2llvmy_mondo_relaxed.owl MA:0000388|VHOG:0001530|ncithesaurus:Egg cell owl:Class MONDO:0016349 biolink:NamedThing congenital hydrocephalus Hydrocephalus that is present at birth. tmpak2llvmy_mondo_relaxed.owl congenital hydrocephalus|HYC3 SCTID:47032000|ICD10:Q03.1|UMLS:C0020256|ICD10:Q03|OMIMPS:236600|Orphanet:2185|NCIT:C98876|ICD10:Q03.0|ICD10:Q03.9|ICD10:Q03.8|MedDRA:10010506 owl:Class MONDO:0017175 biolink:NamedThing Machado-Joseph disease type 2 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. tmpak2llvmy_mondo_relaxed.owl azorean disease, type ii|SCA3, Thomas type|spinocerebellar ataxia, Thomas type Orphanet:276241|ICD10:G11.8|SCTID:91954009 owl:Class UBERON:0002234 biolink:NamedThing proximal phalanx of manus A proximal phalanx that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal manual phalanx|hand proximal phalanx|proximal phalanx of hand|proximal phalanx of finger|proximal phalanx of manual digit|proximal phalanx of fore digit|phalanx proximalis manus owl:Class MONDO:0021678 biolink:NamedThing gram-negative bacterial infections Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. tmpak2llvmy_mondo_relaxed.owl infections, gram-negative bacterial|bacterial infections, gram negative|gram-negative bacterial infection|infections, gram negative bacterial|bacterial infection, gram-negative|bacterial infections, gram-negative|gram negative bacterial infections|infection, gram-negative bacterial MESH:D016905|SCTID:371583007|ICD9:041.85 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class UBERON:0002772 biolink:NamedThing olfactory sulcus The medial orbital gyrus presents a well-marked antero-posterior sulcus, the olfactory sulcus, for the olfactory tract. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl OLFS|olfactory groove|sulcus olfactorius|sulcus olfactorius lobi frontalis owl:Class UBERON:0013118 biolink:NamedThing sulcus of brain A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals. tmpak2llvmy_mondo_relaxed.owl cerebral sulci|sulcus|sulci & spaces|cerebral sulcus|fissure of brain owl:Class GO:1905084 biolink:NamedThing positive regulation of mitochondrial translational elongation Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. tmpak2llvmy_mondo_relaxed.owl positive regulation of mitochondrial translation elongation|up-regulation of mitochondrial translational elongation|upregulation of mitochondrial translational elongation|up regulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|activation of mitochondrial translational elongation|upregulation of mitochondrial translation elongation|up-regulation of mitochondrial translation elongation|up regulation of mitochondrial translational elongation owl:Class MONDO:0019612 biolink:NamedThing functioning gonadotropic adenoma Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). tmpak2llvmy_mondo_relaxed.owl gonadotroph adenoma|functioning pituitary gonadotropic adenoma SCTID:254960002|UMLS:C0346304|Orphanet:91348|ICD10:D35.2 owl:Class NCBITaxon:33347 biolink:NamedThing Euheteroptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33345 biolink:NamedThing Heteroptera tmpak2llvmy_mondo_relaxed.owl true bugs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013148 biolink:NamedThing Brugada syndrome 8 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpak2llvmy_mondo_relaxed.owl Brugada syndrome caused by mutation in HCN4|HCN4 Brugada syndrome|Brugada syndrome 8|Brugada syndrome type 8|BRGDA8 OMIM:613123|MESH:C567732|UMLS:C2751083|ICD10:I49.8|DOID:0110225 owl:Class HGNC:9024 biolink:NamedThing PKP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014636 biolink:NamedThing combined oxidative phosphorylation defect type 25 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 25|COXPD25|combined oxidative phosphorylation deficiency type 25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MARS2 Orphanet:447954|UMLS:C4225329|DOID:0111468|OMIM:616430|EFO:0009035|ICD10:E88.8 owl:Class MONDO:0006661 biolink:NamedThing ascorbic acid deficiency A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) tmpak2llvmy_mondo_relaxed.owl ICD10:E54|MedDRA:10047623|EFO:1000822|MESH:D001206|SCTID:76169001|ICD9:267 owl:Class MONDO:0006873 biolink:NamedThing nutritional deficiency disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl malnourished|malnutrition MESH:D003677|MedDRA:10046058|ICD9:269.9|EFO:1001067|ICD9:269.8|SCTID:70241007|NCIT:C3669|DOID:5113|SCTID:363246002|ICD10:E40.E46 owl:Class GO:2001258 biolink:NamedThing negative regulation of cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity. tmpak2llvmy_mondo_relaxed.owl negative regulation of nonselective cation channel activity|negative regulation of cation diffusion facilitator activity owl:Class GO:1904063 biolink:NamedThing negative regulation of cation transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport. tmpak2llvmy_mondo_relaxed.owl downregulation of cation transmembrane transport|inhibition of cation transmembrane transport|down regulation of cation transmembrane transport|down-regulation of cation transmembrane transport owl:Class GO:1903787 biolink:NamedThing negative regulation of glutathione biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process. tmpak2llvmy_mondo_relaxed.owl downregulation of glutathione synthesis|down regulation of glutathione synthesis|inhibition of glutathione formation|down-regulation of glutathione formation|downregulation of glutathione biosynthesis|down-regulation of glutathione biosynthesis|negative regulation of glutathione anabolism|down-regulation of glutathione anabolism|negative regulation of glutathione biosynthesis|inhibition of glutathione biosynthetic process|downregulation of glutathione anabolism|inhibition of glutathione biosynthesis|downregulation of glutathione biosynthetic process|down-regulation of glutathione biosynthetic process|inhibition of glutathione anabolism|negative regulation of glutathione formation|down-regulation of glutathione synthesis|negative regulation of glutathione synthesis|down regulation of glutathione formation|down regulation of glutathione biosynthetic process|inhibition of glutathione synthesis|down regulation of glutathione biosynthesis|downregulation of glutathione formation|down regulation of glutathione anabolism owl:Class GO:1903786 biolink:NamedThing regulation of glutathione biosynthetic process Any process that modulates the frequency, rate or extent of glutathione biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of glutathione formation|regulation of glutathione biosynthesis|regulation of glutathione anabolism|regulation of glutathione synthesis owl:Class MONDO:0010902 biolink:NamedThing spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia with atlantoaxial instability SCTID:718764004|UMLS:C1833603|MESH:C563472|ICD10:Q77.7|Orphanet:163662|OMIM:600561 owl:Class UBERON:0000478 biolink:NamedThing extraembryonic structure A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. tmpak2llvmy_mondo_relaxed.owl extraembryonic structures|extra-embryonic structure|extraembryonic tissue owl:Class HGNC:15714 biolink:NamedThing LRPPRC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007057 biolink:NamedThing acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. tmpak2llvmy_mondo_relaxed.owl Arthrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|Hajdu-Cheney syndrome|acrodentoosteodysplasia|serpentine fibula-polycystic kidneys syndrome|HJCYS|Cheney syndrome|serpentine fibula-polycystic kidney syndrome|serpentine fibula polycystic kidney syndrome MESH:C531695|MESH:C537586|UMLS:C2930971|Orphanet:955|SCTID:63122002|OMIM:102500|DOID:2736|GARD:0000508|MESH:C535663|ICD9:756.59|UMLS:C0917715|ICD10:M89.5|NCIT:C84745 https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type owl:Class MONDO:0010931 biolink:NamedThing vitamin D-dependent rickets, type 2B Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. tmpak2llvmy_mondo_relaxed.owl vitamin D dependent rickets 2b|vitamin D receptor signaling defect rickets|vitamin D resistant rickets|vitamin D-dependent rickets type II without alopecia|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|VDDR2B OMIM:600785|UMLS:C2748783|SCTID:237895001|NCIT:C131076 owl:Class MONDO:0019642 biolink:NamedThing vitamin D-dependent rickets, type 2 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. tmpak2llvmy_mondo_relaxed.owl vitamin D-dependent rickets type II|vitamin D dependent rickets 2|vitamin D-resistant rickets type II|hypocalcemic vitamin D-resistant rickets|VDDR II|hereditary vitamin D-resistant rickets|vitamin D-dependent rickets, type 2|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|HVDRR|VDDR2|vitamin D receptor deficiency|VDRR II SCTID:72831007|Orphanet:93160|ICD10:E83.3|NCIT:C131077 Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A owl:Class MONDO:0003055 biolink:NamedThing secretory meningioma A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. tmpak2llvmy_mondo_relaxed.owl secretory meningioma|secretory meningioma (morphologic abnormality) DOID:4588|EFO:1000522|UMLS:C1384406|NCIT:C4718 owl:Class HGNC:5244 biolink:NamedThing HSPA9 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008066 biolink:NamedThing glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002138 biolink:NamedThing allergic contact dermatitis of eyelid A allergic contact dermatitis that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid SCTID:402249007|UMLS:C0155178|ICD9:692.9|DOID:1895|ICD9:373.32 owl:Class MONDO:0015380 biolink:NamedThing facial dermoid cyst Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. tmpak2llvmy_mondo_relaxed.owl dermoid cyst of the face ICD10:Q18.8|Orphanet:141051|SCTID:763220008 owl:Class UBERON:0011595 biolink:NamedThing jaw region A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015214 biolink:NamedThing syndromic visceral malformation tmpak2llvmy_mondo_relaxed.owl UMLS:CN226631|Orphanet:108973 owl:Class CHEBI:35366 biolink:NamedThing fatty acid Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. tmpak2llvmy_mondo_relaxed.owl acide gras|acido graso|Fettsaeuren|acides gras|fatty acids|Fatty acid|acidos grasos|Fettsaeure owl:Class MONDO:0009615 biolink:NamedThing methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria III|methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonic aciduria III, formerly|methylmalonyl-Coa racemase deficiency|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency|MCEE deficiency|methylmalonyl-CoA epimerase deficiency SCTID:765137006|MESH:C565386|Orphanet:308425|UMLS:C1855100|ICD10:E71.1|OMIM:251120 owl:Class MONDO:0017390 biolink:NamedThing methylmalonic acidemia without homocystinuria Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. tmpak2llvmy_mondo_relaxed.owl methylmalonic acidemia without homocystinuria|methylmalonic aciduria without homocystinuria 2022-03-01 ICD10:E71.1|Orphanet:293355 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: methylmalonic acidemia' MONDO_0002012 owl:Class MONDO:0020705 biolink:NamedThing neural tube defects, susceptibility to tmpak2llvmy_mondo_relaxed.owl NTD|spina bifida|neural tube defects, SUSCEPTIBILITY to OMIM:182940 owl:Class UBERON:0000391 biolink:NamedThing leptomeninx pia mater or arachnoid mater. tmpak2llvmy_mondo_relaxed.owl pia-arachnoid|arachnoid mater and pia mater|arachnoidea mater et pia mater|pia-arachnoid of neuraxis|leptomeninges owl:Class MONDO:0015544 biolink:NamedThing acquired hemophagocytic lymphohistiocytosis associated with malignant disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN199702|Orphanet:158057 owl:Class NCBITaxon:2731360 biolink:NamedThing Heunggongvirae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731341 biolink:NamedThing Duplodnaviria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCIT:C12219 biolink:NamedThing Anatomic Structure, System, or Substance tmpak2llvmy_mondo_relaxed.owl Anatomic Structure, System, or Substance owl:Class MONDO:0030840 biolink:NamedThing mismatch repair cancer syndrome 2 tmpak2llvmy_mondo_relaxed.owl MMRCS2|mismatch repair cancer syndrome 2 OMIM:619096 owl:Class MONDO:0015399 biolink:NamedThing glossopalatine ankylosis Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. tmpak2llvmy_mondo_relaxed.owl Cosack syndrome Orphanet:141163|ICD10:Q38.3|SCTID:717814004|UMLS:CN199497|UMLS:C4303569 owl:Class MONDO:0017139 biolink:NamedThing oromandibular-limb hypogenesis syndrome Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). tmpak2llvmy_mondo_relaxed.owl Oroacral syndrome|oro-mandibular-limb hypogenesis syndrome Orphanet:2749|UMLS:CN202556|ICD10:Q87.5|GARD:0004116 owl:Class MONDO:0007909 biolink:NamedThing familial multiple lipomatosis Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. tmpak2llvmy_mondo_relaxed.owl lipomatosis, multiple|lipomatosis, familial multiple|lipoma ICD9:214.8|SCTID:766888002|OMIM:151900|ICD9:214.9|GARD:0012925|Orphanet:199276|ICD10:E88.2 owl:Class MONDO:0000652 biolink:NamedThing integumentary system benign neoplasm A benign neoplasm that involves the integumental system. tmpak2llvmy_mondo_relaxed.owl integumental system benign neoplasm DOID:0060121 owl:Class MONDO:0016248 biolink:NamedThing familial ovarian cancer An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary ovarian cancer|familial ovarian cancer|familial ovarian malignant tumor UMLS:CN201036|ICD10:C56|Orphanet:213517 owl:Class MONDO:0016641 biolink:NamedThing limb transversal defect-cardiac anomaly syndrome tmpak2llvmy_mondo_relaxed.owl Hecht-Scott syndrome Orphanet:2492|UMLS:C2931047|ICD10:Q87.2|MESH:C535856 owl:Class MONDO:0009693 biolink:NamedThing plasma cell myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl myelomatosis|Kahler's disease|multiple myeloma|plasma cell myeloma|plasma cell myeloid neoplasm|myeloma, multiple|medullary plasmacytoma|myeloma, plasma cell, malignant|myeloma - multiple|myeloma|multiple myeloma/plasma cell myeloma|Al amyloidosis|Kahler disease|myeloid neoplasm of plasma cell|amyloidosis, systemic EFO:0001378|OMIM:254500|MESH:D009101|ONCOTREE:PCM|UMLS:C0026764|NCIT:C3242|ICD10:C90.0|GARD:0007108|ICD9:203.0|Orphanet:29073|DOID:9538|MedDRA:10028228|ICD10:C90.00|ICDO:9732/3 owl:Class UBERON:0012287 biolink:NamedThing Rathkes pouch epithelium A epithelial sac that is part of a Rathke's pouch. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005356 biolink:NamedThing Rathke's pouch A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP]. tmpak2llvmy_mondo_relaxed.owl Rathke's pocket|Rathke pouch|pituitary diverticulum|craniopharyngeal pouch|pouch of Rathke|hypophyseal pouch|craniobuccal pouch|Rathke's cyst|Rathke's cleft|hypophyseal diverticulum|Rathkes pouch epithelium|nasohypophyseal pouch|adenohypophysial pouch owl:Class GO:0042753 biolink:NamedThing positive regulation of circadian rhythm Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. tmpak2llvmy_mondo_relaxed.owl upregulation of circadian rhythm|up-regulation of circadian rhythm|stimulation of circadian rhythm|up regulation of circadian rhythm|activation of circadian rhythm owl:Class GO:0048518 biolink:NamedThing positive regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpak2llvmy_mondo_relaxed.owl up-regulation of biological process|activation of biological process|positive regulation of physiological process|upregulation of biological process|up regulation of biological process|stimulation of biological process owl:Class MONDO:0024228 biolink:NamedThing miliaria profunda A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. tmpak2llvmy_mondo_relaxed.owl DOID:0070320|SCTID:47317002 owl:Class MONDO:0011722 biolink:NamedThing intellectual disability-obesity-prognathism-eye and skin anomalies syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|Momes syndrome MESH:C564660|OMIM:606772|UMLS:C1847522|Orphanet:397973|ICD10:Q87.8 owl:Class CL:1000410 biolink:NamedThing myocyte of atrioventricular node A muscle cell that is part of the atrioventricular node. tmpak2llvmy_mondo_relaxed.owl AV nodal myocyte|atrioventricular node cell|AV node cell|AV node cardiac muscle cell|atrioventricular node myocyte FMA:67106 cell owl:Class CL:0000187 biolink:NamedThing muscle cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpak2llvmy_mondo_relaxed.owl myocyte|muscle fiber BTO:0000902|WBbt:0003675|CALOHA:TS-2032|FBbt:00005074|FMA:67328|BTO:0000888 cell owl:Class MONDO:0021178 biolink:NamedThing injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. tmpak2llvmy_mondo_relaxed.owl trauma|injury|traumatic injury|wound ICD10:S00.T98|NCIT:C3671|MESH:D014947|EFO:0000546 owl:Class MONDO:0004844 biolink:NamedThing oral mucosa leukoplakia A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpak2llvmy_mondo_relaxed.owl oral leukoplakia|leukoplakia of oral mucosa|oral keratosis|leukokeratosis of oral mucosa|leukoplakia of the oral mucosa|oral keratoses NCIT:C3187|DOID:9655|SCTID:414603003|GARD:0007260|ICD9:528.6|ICD10:K13.2|MESH:D007972|ICD10:K13.21|UMLS:C0023532 owl:Class MONDO:0010956 biolink:NamedThing enamel hypoplasia, cataracts, and aqueductal stenosis tmpak2llvmy_mondo_relaxed.owl enamel hypoplasia, capsular cataracts, and ductal stenosis|enamel hypoplasia, cataracts, and aqueductal stenosis|Seow Najjar syndrome OMIM:600907|MESH:C563430|GARD:0004801|UMLS:C1833163 owl:Class MONDO:0007368 biolink:NamedThing familial benign copper deficiency Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl familial benign hypocupremia|copper deficiency, familial benign GARD:0001522|OMIM:121270|ICD10:E83.0|MESH:C535468|Orphanet:1551|UMLS:C1852576|SCTID:763531001 https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign owl:Class UBERON:0003577 biolink:NamedThing knee connective tissue A portion of connective tissue that is part of a knee [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl knee portion of connective tissue|connective tissue of knee owl:Class MONDO:0011966 biolink:NamedThing periventricular heterotopia with microcephaly, autosomal recessive tmpak2llvmy_mondo_relaxed.owl periventricular nodular heterotopia 2|ARPHM|heterotopia, periventricular, autosomal recessive|periventricular heterotopia with microcephaly, autosomal recessive MESH:C564292|OMIM:608097|UMLS:C1842563 owl:Class CHEBI:17883 biolink:NamedThing hydrogen chloride A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. tmpak2llvmy_mondo_relaxed.owl hydrochloric acid|hydrogen chloride|Chlorwasserstoff|cloruro de hidrogeno|Hydrogen chloride|chlorure d'hydrogene|Wasserstoffchlorid|chlorane|Hydrochloride|[HCl]|HCl|chloridohydrogen|Hydrogenchlorid owl:Class MONDO:0012926 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A2 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. tmpak2llvmy_mondo_relaxed.owl MMP20 amelogenesis imperfecta|AI2A2|amelogenesis imperfecta, pigmented hypomaturation type, 2|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta hypomaturation type IIA2|amelogenesis imperfecta caused by mutation in MMP20|amelogenesis imperfecta pigmented hypomaturation type 2|amelogenesis imperfecta type IIA2 ICD10:K00.5|UMLS:C2675858|MESH:C567279|DOID:0110060|OMIM:612529 owl:Class MONDO:0001482 biolink:NamedThing testicular leukemia A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 tmpak2llvmy_mondo_relaxed.owl testicular leukemia NCIT:C9277|DOID:12286|UMLS:C1336711 owl:Class MONDO:0005447 biolink:NamedThing testicular cancer A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. tmpak2llvmy_mondo_relaxed.owl malignant testicular neoplasm|malignant neoplasm of the testis|malignant tumor of testis|malignant testis neoplasm|cancer of testis|malignant testicular tumor|testis neoplasm|malignant neoplasm of testis|testicular tumor|testis cancer|malignant tumor of the testis GARD:0007746|ICD10:C62.9|SCTID:363449006|ICD10:C62|ICD9:186.9|ICD10:C62.90|EFO:0005088|ICD9:186|NCIT:C7251|MESH:D013736|DOID:2998 owl:Class UBERON:0011132 biolink:NamedThing intercarpal joint A skeletal joint that connects two carpal bones. tmpak2llvmy_mondo_relaxed.owl midcarpal articulation|intercarpal articulation|carpal joint|intercarpal owl:Class UBERON:0001489 biolink:NamedThing manus joint A skeletal joint that is part of a manus (hand) [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand joint|manual joint|joint of terminal segment of free upper limb|joint of hand|joint of manus|articulationes manus owl:Class MONDO:0006952 biolink:NamedThing retinopathy of prematurity A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. tmpak2llvmy_mondo_relaxed.owl Terry syndrome|retrolental fibroplasia|premature retinopathy|ROP SCTID:415297005|ICD10:H35.17|ICD10:H35.10|NCIT:C34982|GARD:0005695|MedDRA:10038933|ICD9:362.21|ICD9:362.20|Orphanet:90050|UMLS:C0035344|MESH:D012178|DOID:13025|ICD10:H35.1|EFO:1001158 owl:Class UBERON:0006913 biolink:NamedThing lip epithelium An epithelium that is part of a lip. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020543 biolink:NamedThing theca steroid-producing cell malignant tumor of ovary, not further specified Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. tmpak2llvmy_mondo_relaxed.owl theca (steroid-producing) cell cancer, not further specified Orphanet:99917|UMLS:CN207444|ICD10:C56 Editor note: TODO owl:Class MONDO:0018172 biolink:NamedThing malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. tmpak2llvmy_mondo_relaxed.owl malignant ovarian sex cord-stromal tumor|malignant ovarian Sex cord-stromal tumor|malignant ovarian SCST|malignant Sex cord-stromal tumor of the ovary|malignant ovarian Sex cord-stromal neoplasm|malignant Sex cord-stromal tumor of ovary|ovarian sex cord-stromal tumor, malignant NCIT:C8053|UMLS:CN204631|UMLS:C1334609|Orphanet:35808|ICD10:C56 owl:Class MONDO:0004314 biolink:NamedThing malignant cutaneous granular cell skin tumor tmpak2llvmy_mondo_relaxed.owl malignant granular cell tumor of the skin|malignant granular cell skin neoplasm|malignant granular cell neoplasm of the skin|malignant granular cell skin tumor|malignant cutaneous granular cell tumor|malignant granular cell tumor of skin|malignant granular cell neoplasm of skin DOID:7639|NCIT:C5614|UMLS:C1334575 owl:Class MONDO:0003363 biolink:NamedThing malignant dermis tumor A malignant neoplasm involving the dermis. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the dermis|malignant dermis neoplasm|malignant dermal neoplasm|cancer of dermis|malignant tumor of the dermis|dermis cancer|malignant tumor of dermis|malignant neoplasm of dermis|malignant dermis tumor DOID:5274|SCTID:255096006|UMLS:C0346811|NCIT:C4574 owl:Class UBERON:0004251 biolink:NamedThing hindlimb zeugopod bone A bone that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone of hind limb middle limb segment|middle limb segment of inferior member bone|hindlimb zeugopod bone|bone organ of lower leg|bone of zeugopod of inferior member|bone of hindlimb zeugopod|bone of zeugopod of hind limb|middle limb segment of lower extremity bone|bone organ of zeugopod of leg|bone of intermediate segment of free lower limb|inferior member zeugopod bone organ|zeugopod of inferior member bone|hind limb zeugopod bone|bone of lower extremity middle limb segment|hind limb zeugopod bone organ|bone of zeugopod of leg|middle limb segment of inferior member bone organ|hind limb middle limb segment bone|lower leg bone|bone of inferior member middle limb segment|bone of middle limb segment of inferior member|bone of zeugopod of hindlimb|zeugopod of hindlimb bone|zeugopod of lower extremity bone organ|bone of zeugopod of lower extremity|bone organ of middle limb segment of hind limb|bone of hindlimb middle limb segment|middle limb segment of hind limb bone organ|bone organ of zeugopod of hindlimb|bone organ of intermediate segment of free lower limb|bone organ of hindlimb middle limb segment|zeugopod of leg bone organ|bone organ of inferior member middle limb segment|zeugopod of leg bone|hindlimb middle limb segment bone|bone organ of lower extremity zeugopod|bone organ of zeugopod of lower extremity|middle limb segment of hindlimb bone|bone organ of inferior member zeugopod|bone organ of middle limb segment of hindlimb|hindlimb zeugopod bone organ|zeugopod of lower extremity bone|zeugopod of inferior member bone organ|zeugopod of hind limb bone organ|lower extremity zeugopod bone organ|bone of lower extremity zeugopod|middle limb segment of hind limb bone|bone of middle limb segment of lower extremity|zeugopod of hind limb bone|bone organ of hind limb middle limb segment|intermediate segment of free lower limb bone|lower extremity middle limb segment bone organ|bone of hind limb zeugopod|bone organ of hind limb zeugopod|intermediate segment of free lower limb bone organ|bone organ of zeugopod of hind limb|lower extremity middle limb segment bone|zeugopod of hindlimb bone organ|bone organ of middle limb segment of lower extremity|bone organ of middle limb segment of inferior member|lower extremity zeugopod bone|inferior member zeugopod bone|bone of inferior member zeugopod|bone of middle limb segment of hind limb|inferior member middle limb segment bone|bone organ of hindlimb zeugopod|bone organ of zeugopod of inferior member|bone of middle limb segment of hindlimb|hindlimb middle limb segment bone organ|bone of lower leg|middle limb segment of hindlimb bone organ|middle limb segment of lower extremity bone organ|hind limb middle limb segment bone organ|inferior member middle limb segment bone organ|bone organ of lower extremity middle limb segment owl:Class MONDO:0013502 biolink:NamedThing amyloidosis, primary localized cutaneous, 2 tmpak2llvmy_mondo_relaxed.owl amyloidosis, primary localized cutaneous, 2|PLCA2|amyloidosis, primary localized cutaneous, type 2 UMLS:C3151404|OMIM:613955 owl:Class MONDO:0005448 biolink:NamedThing hepatitis C induced liver cirrhosis Liver injury resulting from hepatitis C infection. tmpak2llvmy_mondo_relaxed.owl EFO:0005129 owl:Class MONDO:0017098 biolink:NamedThing isolated focal cortical dysplasia type Ic tmpak2llvmy_mondo_relaxed.owl FCD type Ic ICD10:Q04.8|UMLS:CN202455|Orphanet:268987 owl:Class MONDO:0017095 biolink:NamedThing isolated focal cortical dysplasia type I tmpak2llvmy_mondo_relaxed.owl FCD type I Orphanet:268961|ICD10:Q04.8|UMLS:CN202452 owl:Class MONDO:0003066 biolink:NamedThing submandibular adenitis Inflammation of the submandibular lymph nodes. tmpak2llvmy_mondo_relaxed.owl submandibular lymphadenitis|submandibular gland lymphadenitis (disease)|lymphadenitis (disease) of submandibular gland SCTID:15170009|NCIT:C27016|UMLS:C0235591|DOID:4636 owl:Class HP:0000008 biolink:NamedThing Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. tmpak2llvmy_mondo_relaxed.owl Abnormality of female internal genitalia UMLS:C4025900 human_phenotype owl:Class HP:0000812 biolink:NamedThing Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). tmpak2llvmy_mondo_relaxed.owl Abnormal internal genitalia UMLS:C4025824 human_phenotype owl:Class MONDO:0001795 biolink:NamedThing plantar wart A wart in the plantar surface of the foot. It is caused by human papillomavirus. tmpak2llvmy_mondo_relaxed.owl verruca plantaris|plantar wart ICD10:B07.0|NCIT:C26913|SCTID:63440008|DOID:13775|UMLS:C0042548|EFO:1002023|ICD9:078.12 owl:Class HP:0030791 biolink:NamedThing Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. tmpak2llvmy_mondo_relaxed.owl UMLS:C4280767 human_phenotype owl:Class HP:0011821 biolink:NamedThing Abnormality of facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton. tmpak2llvmy_mondo_relaxed.owl Anomaly of facial bones|Abnormality of facial skeleton|Deformity of facial skeleton|Malformation of facial skeleton|Abnormality of facial bones|Anomaly of facial skeleton|Deformity of the facial bones|Malformation of facial bones UMLS:C2315229|SNOMEDCT_US:433096001 The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. peter 2012-04-29T04:37:30Z human_phenotype owl:Class UBERON:0005870 biolink:NamedThing olfactory pit An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. tmpak2llvmy_mondo_relaxed.owl nasal pit owl:Class CL:0002123 biolink:NamedThing B220-low CD38-positive IgG-negative class switched memory B cell A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002122 biolink:NamedThing B220-positive CD38-positive IgG-negative class switched memory B cell A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class HGNC:11588 biolink:NamedThing TBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019443 biolink:NamedThing dextro-looped transposition of the great arteries Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. tmpak2llvmy_mondo_relaxed.owl D-TGA|congenitally uncorrected transposition of the great arteries|congenitally uncorrected transposition of the great vessels|ventriculoarterial discordance with atrioventricular concordance|DTGA|isolated ventriculoarterial discordance DOID:0060770|OMIMPS:608808|Orphanet:860|ICD10:Q20.3 owl:Class MONDO:0014168 biolink:NamedThing severe combined immunodeficiency due to CORO1A deficiency tmpak2llvmy_mondo_relaxed.owl SCID due to coronin-1A deficiency|coronin-1A deficiency|immunodeficiency type 8|SCID due to CORO1A deficiency|IMD8|severe combined immunodeficiency due to CORO1A deficiency|severe combined immunodeficiency due to coronin-1A deficiency|immunodeficiency 8 Orphanet:228003|OMIM:615401|DOID:0060019|UMLS:C3809383|ICD10:D81.2 owl:Class UBERON:0005205 biolink:NamedThing lamina propria of vagina tmpak2llvmy_mondo_relaxed.owl vagina stroma owl:Class MONDO:0200000 biolink:NamedThing uterine ligament adenosarcoma An extremely rare adenosarcoma that arises from the uterine ligament. tmpak2llvmy_mondo_relaxed.owl uterine ligament adenosarcoma|adenosarcoma of uterine ligament UMLS:C3640823|NCIT:C102570 owl:Class MONDO:0003612 biolink:NamedThing uterine ligament cancer A primary or metastatic malignant neoplasm that affects the uterine ligament. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of uterine ligament|uterine ligament cancer|cancer of uterine ligament|malignant uterine ligament neoplasm DOID:5727|NCIT:C126498|UMLS:C0864950 owl:Class MONDO:0004393 biolink:NamedThing mixed astrocytoma-ependymoma A tumor of mixed cell type with astrocytic components as well as ependymoma components. tmpak2llvmy_mondo_relaxed.owl mixed astrocytoma-ependymoma DOID:7907|NCIT:C8271|UMLS:C0280791 owl:Class MONDO:0003268 biolink:NamedThing mixed glioma A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). tmpak2llvmy_mondo_relaxed.owl mixed glial tumor|mixed gliomas|mixed glioma (morphologic abnormality)|mixed glial neoplasm|mixed neuroglial neoplasm|mixed neuroglial tumor|mixed glioma|glioma, mixed|glioma, mixed, malignant SCTID:443937008|DOID:5076|NCIT:C3903|ICDO:9382/3|UMLS:C0259783 owl:Class UBERON:0017261 biolink:NamedThing intertarsal sesamoid A sesamoid element that is part of a tarsal skeleton. tmpak2llvmy_mondo_relaxed.owl tarsal sesamoid owl:Class HGNC:15860 biolink:NamedThing PRPF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008108 biolink:NamedThing oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. tmpak2llvmy_mondo_relaxed.owl oculocerebrocutaneous syndrome|Delleman syndrome|oculo-cerebro-cutaneous syndrome|orbital cyst with cerebral and focal dermal malformations|Delleman-Oorthuys syndrome|OCC syndrome|Leichtman-Wood-Rohn syndrome|OCCS|Delleman Oorthuys syndrome SCTID:403554008|Orphanet:1647|MESH:C538088|ICD10:Q87.8|UMLS:C0796092|OMIM:164180|ICD9:759.89|GARD:0000106 https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome owl:Class MONDO:0006186 biolink:NamedThing duodenal adenocarcinoma A carcinoma that arises from glandular epithelial cells of the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenal adenocarcinoma|adenocarcinoma of the duodenum|duodenum adenocarcinoma|adenocarcinoma of duodenum NCIT:C7889|EFO:1000223|ONCOTREE:DA|SCTID:408644002|DOID:10816|UMLS:C0278804 owl:Class MONDO:0021335 biolink:NamedThing carcinoma of duodenum A carcinoma that involves the duodenum. tmpak2llvmy_mondo_relaxed.owl carcinoma of duodenum|duodenal cancer|cancer of duodenum|duodenum carcinoma|carcinoma of the duodenum|cancer of the duodenum|duodenal carcinoma SCTID:254570009|NCIT:C4803 owl:Class UBERON:0002459 biolink:NamedThing inferior palpebral vein A blood vessel that drains from from an lower eyelid. tmpak2llvmy_mondo_relaxed.owl venae palpebrales inferiores|inferior palpebral veins set|lower palpebral vein|inferior palpebral veins|vein of inferior eyelid owl:Class UBERON:0014769 biolink:NamedThing palpebral vein A blood vessel that drains from from an eyelid. tmpak2llvmy_mondo_relaxed.owl palpebral veins|venae palpebrales owl:Class MONDO:0013195 biolink:NamedThing hypertrophic cardiomyopathy 13 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpak2llvmy_mondo_relaxed.owl TNNC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 13|hypertrophic cardiomyopathy type 13|cardiomyopathy, familial hypertrophic, type 13|CMH13|cardiomyopathy, familial hypertrophic, 13|hypertrophic cardiomyopathy caused by mutation in TNNC1 MESH:C567686|DOID:0110319|OMIM:613243|UMLS:C2750472 owl:Class MONDO:0020723 biolink:NamedThing vitamin D-dependent rickets, type 1A tmpak2llvmy_mondo_relaxed.owl vitamin D hydroxylation-deficient rickets, type 1A|VDDR1A|pseudovitamin D-deficiency rickets, type 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|vitamin D dependency, type 1|1-Alpha-Hydroxylase deficiency|1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1A|PDDR 1A UMLS:C0268689|OMIM:264700 owl:Class MONDO:0009924 biolink:NamedThing vitamin D-dependent rickets, type 1 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. tmpak2llvmy_mondo_relaxed.owl hypocalcemic vitamin D-dependent rickets|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|PDDRI|VDDR-I|pseudovitamin D-deficient rickets|1 Alpha-hydroxylase deficiency|vitamin D-dependency type I|vitamin D-dependent rickets type 1|vitamin D dependency, type 1|vitamin D dependent rickets type I|VDDR1|vitamin D 1 Alpha-Hydroxylase deficiency|VDDI|pseudo vitamin-D deficient rickets|1-alpha-hydroxylase deficiency NCIT:C131073|SCTID:67049004|Orphanet:289157|ICD10:E55.0|MESH:C562688 owl:Class MONDO:0004142 biolink:NamedThing lung combined large cell neuroendocrine carcinoma A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. tmpak2llvmy_mondo_relaxed.owl pulmonary combined large cell neuroendocrine carcinoma|combined large cell lung neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung|combined large cell neuroendocrine carcinoma of the lung NCIT:C7267|UMLS:C1333122|DOID:7207 owl:Class NCBITaxon:1913637 biolink:NamedThing Mucoromycota tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:27738200 ncbi_taxonomy owl:Class NCBITaxon:112252 biolink:NamedThing Fungi incertae sedis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:451834 ncbi_taxonomy owl:Class MONDO:0009893 biolink:NamedThing polydactyly, postaxial, type A5 tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, type A5|PAPA5 UMLS:C3550661|OMIM:263450 owl:Class MONDO:0019436 biolink:NamedThing psoriasis-related juvenile idiopathic arthritis Childhood arthritis typically associated with psoriasis. tmpak2llvmy_mondo_relaxed.owl JPsA|psoriasis-related JIA|juvenile psoriatic arthritis NCIT:C114361|ICD10:M09.0*|SCTID:239802003|Orphanet:85436|GARD:0010970|ICD10:L40.5+ owl:Class MONDO:0011849 biolink:NamedThing psoriatic arthritis Joint inflammation associated with psoriasis. tmpak2llvmy_mondo_relaxed.owl psoriatic arthropathy|arthropathic psoriasis|psoriatic arthritis, susceptibility to, 1|psoriatic arthritis, susceptibility to|susceptibility to psoriatic arthritis|arthritis psoriatica DOID:9008|UMLS:C0003872|ICD10:L40.50|ICD9:696.0|NCIT:C61277|EFO:0003778|ICD10:L40.5|SCTID:156370009|MESH:D015535 owl:Class MONDO:0013174 biolink:NamedThing primary ciliary dyskinesia 13 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 13|primary ciliary dyskinesia 13|ciliary dyskinesia, primary, 13|primary ciliary dyskinesia 13 with or without situs inversus|CILD13|primary ciliary dyskinesia type 13|DNAAF1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 13, with or without situs inversus|primary ciliary dyskinesia caused by mutation in DNAAF1 ICD10:Q34.8|MESH:C567713|OMIM:613193|UMLS:C2750790|DOID:0110618 owl:Class MONDO:0009638 biolink:NamedThing mitochondrial myopathy with a defect in mitochondrial-protein transport tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy with a defect in mitochondrial-protein transport UMLS:C1855034|OMIM:251945|MESH:C565376 owl:Class MONDO:0018364 biolink:NamedThing malignant epithelial tumor of ovary An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. tmpak2llvmy_mondo_relaxed.owl ovarian stromal cancer|epithelial cancer of ovary|ovarian epithelial tumor, malignant|malignant ovarian surface epithelial-stromal tumor|ovarian epithelial cancer|malignant ovarian surface epithelial-stromal neoplasm|ovarian malignant epithelial tumor|malignant ovarian epithelial tumor GARD:0009362|DOID:2151|Orphanet:398934|MESH:C538090|NCIT:C40026|SCTID:254849005 Editor note: check inference with carcinoma owl:Class MONDO:0017472 biolink:NamedThing patella aplasia/hypoplasia, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295038|ICD10:Q74.1 owl:Class MONDO:0008205 biolink:NamedThing patella aplasia/hypoplasia Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. tmpak2llvmy_mondo_relaxed.owl absent patella|PTLAH|familial absence of the patella|patella aplasia-hypoplasia|familial aplasia of the patella (subtype) OMIM:168860|ICD10:Q74.1|Orphanet:86789|MESH:C535568|GARD:0008709 owl:Class MONDO:0001913 biolink:NamedThing oligospermia Decreased number of spermatozoa in the semen. tmpak2llvmy_mondo_relaxed.owl UMLS:C0028960|ICD10:N46.1|MESH:D009845|HP:0000798|ICD10:N46.11|DOID:14228|ICD9:606.1 owl:Class UBERON:0018113 biolink:NamedThing left kidney interstitium A kidney interstitium that is part of a left kidney. tmpak2llvmy_mondo_relaxed.owl stroma of left kidney|left renal stroma owl:Class GO:0009894 biolink:NamedThing regulation of catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpak2llvmy_mondo_relaxed.owl regulation of degradation|regulation of breakdown|regulation of catabolism owl:Class UBERON:0009917 biolink:NamedThing kidney corticomedullary boundary The region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33263 biolink:NamedThing diatomic oxygen tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33262 biolink:NamedThing elemental oxygen tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900122 biolink:NamedThing positive regulation of receptor binding Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpak2llvmy_mondo_relaxed.owl activation of receptor binding|upregulation of receptor binding|up regulation of receptor binding owl:Class GO:0032092 biolink:NamedThing positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding. tmpak2llvmy_mondo_relaxed.owl up-regulation of protein binding|up regulation of protein binding|stimulation of protein binding|activation of protein binding|upregulation of protein binding owl:Class MONDO:0001279 biolink:NamedThing intraspinal meningioma A meningioma that arises from the spinal meninges. tmpak2llvmy_mondo_relaxed.owl spinal canal and spinal cord meningioma|intraspinal meningioma|meningioma of spinal canal and spinal cord|meningioma of the spinal canal and spinal cord DOID:1140|NCIT:C5134|UMLS:C1334264 owl:Class NCBITaxon:721805 biolink:NamedThing Amygdaleae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0034726 biolink:NamedThing trunk taste bud A taste bud that is located on the skin of the trunk. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001727 biolink:NamedThing taste bud A specialized receptor organ that is a collection of cells spanning the gustatory epithelium. tmpak2llvmy_mondo_relaxed.owl taste buds|taste-bud|tastebud|tastebuds|caliculus gustatorius owl:Class CL:1000692 biolink:NamedThing kidney interstitial fibroblast tmpak2llvmy_mondo_relaxed.owl KUPO:0001102 cell owl:Class MONDO:0012952 biolink:NamedThing colorectal cancer, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, 9|CRCS9|colorectal cancer, susceptibility to, on chromosome 16Q OMIM:612590 owl:Class UBERON:0010347 biolink:NamedThing 6th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 6th arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl pharyngeal arch 6 mesenchyme from head mesenchyme|branchial arch 6 mesenchyme from head mesenchyme|head mesenchyme derived arch 6 mesenchyme owl:Class GO:0070130 biolink:NamedThing negative regulation of mitochondrial translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl negative regulation of mitochondrial protein formation|negative regulation of mitochondrial protein biosynthesis|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein anabolism owl:Class UBERON:0005658 biolink:NamedThing secondary palatal shelf epithelium An epithelium that is part of a secondary palatal shelf. tmpak2llvmy_mondo_relaxed.owl palatal shelf epithelium owl:Class UBERON:0007198 biolink:NamedThing hermaphrodite anatomical structure An anatomical structure present only in hermaphrodites. tmpak2llvmy_mondo_relaxed.owl hermaphrodite-specific owl:Class PATO:0001400 biolink:NamedThing unipotent A cellular potency that is the capacity to produce only one differentiated cell type. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001790 biolink:NamedThing spinal cord lipoma A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. tmpak2llvmy_mondo_relaxed.owl lipoma of spinal cord|spinal cord lipoma SCTID:189017000|NCIT:C4619|ICD9:214.8|DOID:13743|UMLS:C0347446 owl:Class MONDO:0003844 biolink:NamedThing central nervous system lipoma A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. tmpak2llvmy_mondo_relaxed.owl lipoma of the CNS|lipoma of CNS|CNS lipoma|lipoma of the central nervous system|lipoma of central nervous system|central nervous system lipoma DOID:6293|NCIT:C5451|UMLS:C1332885 owl:Class MONDO:0008318 biolink:NamedThing Proteus syndrome Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. tmpak2llvmy_mondo_relaxed.owl partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|Proteus syndrome|hemihypertrophy and macrocephaly|Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Wiedemann's syndrome GARD:0007475|DOID:13482|ICD9:759.89|ICD10:Q87.3|Orphanet:744|MONDO:0023663|NCIT:C85032|MESH:D016715|UMLS:C0085261|OMIM:176920|SCTID:23150001 owl:Class MONDO:0017623 biolink:NamedThing PTEN hamartoma tumor syndrome A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. tmpak2llvmy_mondo_relaxed.owl PTEN hamartoma tumor syndrome|PHTS Orphanet:306498|DOID:0080191|SCTID:722859001|UMLS:C1959582|GARD:0012800 https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome owl:Class ECTO:9000404 biolink:NamedThing exposure to nitrogen An exposure to nitrogen molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to nitrogen molecular entity owl:Class MONDO:0004781 biolink:NamedThing acute myocardial infarction Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. tmpak2llvmy_mondo_relaxed.owl acute myocardial infarction (disease)|myocardial infarction (disease), acute ICD9:410.92|ICD10:I21.9|ICD9:410.90|ICD9:410.9|NCIT:C35204|ICD9:410.82|ICD9:410|ICD9:410.81|DOID:9408|UMLS:C0155626|ICD10:I21.3|EFO:0008583|SCTID:57054005|ICD9:410.80|ICD9:410.91 owl:Class MONDO:0009212 biolink:NamedThing congenital factor X deficiency Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. tmpak2llvmy_mondo_relaxed.owl Stuart-Prower factor deficiency|congenital factor X deficiency|hereditary Factor X deficiency|factor X deficiency|Stuart factor deficiency, congenital|congenital Stuart factor deficiency|disease, Stuart-Prower|factor X deficiency, congenital|F10 deficiency|factor 10 deficiency|Stuart-Prower Factor deficiency ICD9:286.3|ICD10:D68.2|GARD:0006404|NCIT:C98940|SCTID:37350004|OMIM:227600|Orphanet:328|DOID:2222 owl:Class MONDO:0002247 biolink:NamedThing factor X deficiency A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. tmpak2llvmy_mondo_relaxed.owl SCTID:76642003|NCIT:C131632|MESH:D005171 owl:Class MONDO:0006049 biolink:NamedThing papillary lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. tmpak2llvmy_mondo_relaxed.owl papillary adenocarcinoma of lung|lung papillary adenocarcinoma|lung papillary-adenocarcinoma|papillary adenocarcinoma of the lung|papillary lung adenocarcinoma SCTID:707411007|EFO:1000046|UMLS:C1335325|ICD9:162.9|NCIT:C5650|DOID:5588 owl:Class CL:1000405 biolink:NamedThing epithelial cell of appendix An epithelial cell that is part of the appendix. tmpak2llvmy_mondo_relaxed.owl epithelial cell of vermiform appendix|columnar epitheliocyte of appendix FMA:63602 cell owl:Class MONDO:0000775 biolink:NamedThing drug allergy Immunologically mediated adverse reactions to medicinal substances used legally or illegally. tmpak2llvmy_mondo_relaxed.owl allergy of exposure to drug|exposure to drug allergic disease DOID:0060500|MESH:D004342 owl:Class HGNC:13128 biolink:NamedThing ZNF711 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005910 biolink:NamedThing phagocyte bactericidal dysfunction Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. tmpak2llvmy_mondo_relaxed.owl phagocytic dysfunction DOID:3262|EFO:0007433|UMLS:C0031306|MESH:D010585 Editor note: consider merging owl:Class MONDO:0024627 biolink:NamedThing phagocytic cell dysfunction tmpak2llvmy_mondo_relaxed.owl phagocytic cell dysfunction|defective phagocytosis UMLS:C0398732|SCTID:302874002 owl:Class UBERON:0000411 biolink:NamedThing visual cortex the part of the cerebral cortex responsible for processing visual information. tmpak2llvmy_mondo_relaxed.owl visual areas|higher-order visual cortex owl:Class UBERON:0035014 biolink:NamedThing functional part of brain A brain region defined by functional criteria, e.g. auditory cortex, rather than by structural or histological criteria. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019662 biolink:NamedThing short rib-polydactyly syndrome, Majewski type tmpak2llvmy_mondo_relaxed.owl SRPS type 2|short rib-polydactyly syndrome type 2|short rib-polydactyly syndrome Majewski type|polydactyly with neonatal chondrodystrophy type 2 ICD9:756.3|GARD:0004833|SCTID:72922008|Orphanet:93269|ICD10:Q77.2 owl:Class MONDO:0015461 biolink:NamedThing short rib-polydactyly syndrome Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). tmpak2llvmy_mondo_relaxed.owl Orphanet:1505|SCTID:205484001|UMLS:C0036996|ICD10:Q77.2|MESH:D012779|ICD9:756.3|NCIT:C85065 owl:Class MONDO:0025453 biolink:NamedThing pneumonia, progressive interstitial, of sheep Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity. tmpak2llvmy_mondo_relaxed.owl Maedi|progressive interstitial pneumonia of sheep MESH:D011021|UMLS:C0032306 owl:Class MONDO:0024985 biolink:NamedThing sheep disease Diseases of domestic and mountain sheep of the genus Ovis. tmpak2llvmy_mondo_relaxed.owl disease, Ovine|Ovine diseases|sheep disease|disease, sheep|diseases, Ovine|Ovine disease|diseases, sheep MESH:D012757|UMLS:C0036946 owl:Class GO:0050819 biolink:NamedThing negative regulation of coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. tmpak2llvmy_mondo_relaxed.owl down-regulation of coagulation|anticoagulant activity|downregulation of coagulation|down regulation of coagulation|negative regulation of clotting|inhibition of coagulation owl:Class MONDO:0024673 biolink:NamedThing skin lymphangioma A lymphangioma arising from the skin. tmpak2llvmy_mondo_relaxed.owl skin lymphangioma|cutaneous lymphangioma UMLS:C1333176|NCIT:C27509 owl:Class HGNC:11102 biolink:NamedThing SMARCAL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019531 biolink:NamedThing hemolytic anemia due to glutathione reductase deficiency Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. tmpak2llvmy_mondo_relaxed.owl HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY Orphanet:90030|OMIM:618660|ICD10:D55.1 MONDO:0032856 owl:Class MONDO:0011468 biolink:NamedThing hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. tmpak2llvmy_mondo_relaxed.owl HMSNO|hereditary motor and sensory neuropathy, proximal type|hereditary motor and sensory neuropathy, proximal type, formerly|neuropathy, hereditary motor and sensory, Okinawa type|HMSNP MESH:C535717|Orphanet:90117|ICD10:G60.0|OMIM:604484|GARD:0010131 owl:Class MONDO:0016688 biolink:NamedThing fibrillary astrocytoma The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) tmpak2llvmy_mondo_relaxed.owl fibrillary astrocytoma|fibrillary astrocytic tumors MedDRA:10065889|DOID:6726|ICDO:9420/3|ICD10:C71.9|Orphanet:251601|UMLS:C0334582|NCIT:C4322 owl:Class MONDO:0010977 biolink:NamedThing Brody myopathy Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. tmpak2llvmy_mondo_relaxed.owl sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody myopathy|Brody disease ICD10:G71.8|Orphanet:53347|MESH:C536607|SCTID:703530005|UMLS:C1832918|DOID:0050692|GARD:0009158|ICD9:359.89|OMIM:601003 https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy owl:Class MONDO:0016199 biolink:NamedThing qualitative or quantitative defects of protein SERCA1 tmpak2llvmy_mondo_relaxed.owl Orphanet:209199 owl:Class MONDO:0014735 biolink:NamedThing Charcot-Marie-Tooth disease type 2Y Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. tmpak2llvmy_mondo_relaxed.owl CMT2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|Charcot-Marie-Tooth disease, axonal, type 2Y|Charcot-Marie-Tooth neuropathy type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth neuropathy, type 2Y|Charcot-Marie-Tooth disease, axonal, type 2y|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|VCP Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation Orphanet:435387|ICD10:G60.0|OMIM:616687|DOID:0110168|UMLS:C4225244 owl:Class MONDO:0012268 biolink:NamedThing AIDS A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. tmpak2llvmy_mondo_relaxed.owl acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency disease|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome|AIDS|acquired immune deficiency syndrome|acquired immune deficiency MESH:D000163|NCIT:C2851|SCTID:62479008|DOID:635|ICD10:B20|EFO:0000765 owl:Class MONDO:0007711 biolink:NamedThing Bencze syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. tmpak2llvmy_mondo_relaxed.owl Bencze syndrome|hemifacial hyperplasia strabismus|hemifacial hyperplasia with strabismus|hemifacial hyperplasia-strabismus syndrome Orphanet:1241|SCTID:733046006|UMLS:C1841640|GARD:0002633|OMIM:141350|MESH:C564199|ICD10:Q67.4 https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus owl:Class NCBITaxon:481310 biolink:NamedThing Demodex folliculorum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:188544 biolink:NamedThing Demodex tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014677 biolink:NamedThing achromatopsia 7 Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene. tmpak2llvmy_mondo_relaxed.owl achromatopsia caused by mutation in ATF6|ACHM7|achromatopsia type 7|achromatopsia 7|ATF6 achromatopsia UMLS:C4225297|OMIM:616517|DOID:0110009 owl:Class MONDO:0100447 biolink:NamedThing ATF6 retinopathy A retinopathy caused by biallelic variants in the AFT6 gene. tmpak2llvmy_mondo_relaxed.owl ACHM7|achromatopsia type 7|achromatopsia caused by mutation in ATF6|ATF6 retinopathy|achromatopsia 7|ATF6 achromatopsia owl:Class MONDO:0015593 biolink:NamedThing limbic encephalitis with nCMAgs antibodies tmpak2llvmy_mondo_relaxed.owl limbic encephalitis with novel cell membrane antigen antibodies ICD10:G13.1|Orphanet:163914 owl:Class MONDO:0015591 biolink:NamedThing limbic encephalitis associated with antibodies to cell membrane antigens tmpak2llvmy_mondo_relaxed.owl ICD10:G13.1|Orphanet:163903 owl:Class MONDO:0020292 biolink:NamedThing congenital anomaly of the great arteries tmpak2llvmy_mondo_relaxed.owl congenital aorta, aortic arch or pulmonary arteries anomaly MedDRA:10061080|Orphanet:98724 owl:Class MONDO:0007657 biolink:NamedThing giant neutrophil leukocytes tmpak2llvmy_mondo_relaxed.owl giant neutrophil leukocytes UMLS:C1842039|OMIM:137500 owl:Class MONDO:0009670 biolink:NamedThing lethal congenital contracture syndrome 1 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. tmpak2llvmy_mondo_relaxed.owl LCCS1|multiple contracture syndrome, Finnish type|Herva disease|GLE1 lethal congenital contracture syndrome|Lccs|lethal congenital contracture syndrome caused by mutation in GLE1|lethal congenital contracture syndrome type 1|lethal congenital contracture syndrome 1|lethal autosomal recessive syndrome of multiple congenital contractures SCTID:715418007|DOID:0060559|UMLS:C1854664|OMIM:253310|Orphanet:1486|ICD10:Q68.8|MESH:C537194|GARD:0003227 owl:Class MONDO:0017436 biolink:NamedThing lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. tmpak2llvmy_mondo_relaxed.owl LCCS GARD:0012643|UMLS:CN239241|OMIMPS:253310|ICD10:Q68.8|DOID:0060558|Orphanet:294965 owl:Class MONDO:0004329 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. tmpak2llvmy_mondo_relaxed.owl pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia DOID:7685|NCIT:C41251|UMLS:C1518873|ICDO:8453/2 owl:Class MONDO:0004285 biolink:NamedThing pancreatic intraductal papillary-mucinous carcinoma A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations. tmpak2llvmy_mondo_relaxed.owl intraductal papillary-colloid carcinoma of pancreas|intraductal papillary-mucinous carcinoma of pancreas|intraductal papillary mucinous carcinoma of pancreas|intraductal papillary-colloid carcinoma of the pancreas|intraductal papillary-colloidal carcinoma of pancreas|intraductal papillary-colloidal carcinoma of the pancreas|pancreatic intraductal papillary-colloidal carcinoma|pancreatic intraductal papillary-colloid carcinoma|pancreatic intraductal papillary mucinous carcinoma|pancreatic intraductal papillary-mucinous carcinoma|intraductal papillary-mucinous carcinoma of the pancreas DOID:7574|NCIT:C5725|UMLS:C1335304|ICD10:C25.3|Orphanet:424058 owl:Class MONDO:0013982 biolink:NamedThing ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A UMLS:C3541517|DOID:0111653|OMIM:614940 owl:Class MONDO:0015884 biolink:NamedThing autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant form of hypohidrotic ectodermal dysplasia. tmpak2llvmy_mondo_relaxed.owl hypohidrotic ectodermal dysplasia, autosomal dominant|autosomal dominant anhidrotic ectodermal dysplasia|AD-HED Orphanet:1810|ICD10:Q82.4 owl:Class UBERON:0014908 biolink:NamedThing cerebellopontine angle Junction between the cerebellum and the pons. tmpak2llvmy_mondo_relaxed.owl cerebellopontine angle|angulus cerebellopontinus|cerebellopontile angle owl:Class MONDO:0003405 biolink:NamedThing adult central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in adults. tmpak2llvmy_mondo_relaxed.owl germ cell neoplasm of adult central nervous system|germ cell tumor of adult central nervous system|central nervous system germ cell tumor of adults|adult CNS germ cell tumor|germ cell neoplasm of adult CNS|adult CNS germ cell neoplasm|germ cell tumor of adult CNS|germ cell tumor of the adult CNS|germ cell tumor of the adult central nervous system|adult central nervous system germ cell neoplasm|adult central nervous system germ cell tumor|germ cell neoplasm of the adult central nervous system|central nervous system germ cell tumor|germ cell neoplasm of the adult CNS|central nervous system adult germ cell tumor UMLS:C0280796|DOID:5349|NCIT:C6285 owl:Class GO:1903506 biolink:NamedThing regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046545 biolink:NamedThing development of primary female sexual characteristics The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045137 biolink:NamedThing development of primary sexual characteristics The process whose specific outcome is the progression of the primary sexual characteristics over time, from their formation to the mature structures. The primary sexual characteristics are the testes in males and the ovaries in females and they develop in response to sex hormone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007486 biolink:NamedThing hereditary benign intraepithelial dyskeratosis A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. tmpak2llvmy_mondo_relaxed.owl dyskeratosis, hereditary benign intraepithelial|Dkbi|hereditary benign corneal intraepithelial dyskeratosis|HBID|Witkop-Von Sallmann disease MESH:C562551|SCTID:400014002|NCIT:C3940|ICD10:Q82.8|Orphanet:352657|UMLS:C0265966|OMIM:127600 owl:Class MONDO:0008921 biolink:NamedThing carnosinemia Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. tmpak2llvmy_mondo_relaxed.owl Carnosinase deficiency|carnosinemia|homocarnosinosis SCTID:410052008|OMIM:212200|GARD:0006001|Orphanet:1361|ICD10:E70.8|UMLS:C3495555|NCIT:C125661 owl:Class MONDO:0002878 biolink:NamedThing uterine corpus adenosarcoma A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. tmpak2llvmy_mondo_relaxed.owl body of uterus adenosarcoma|adenosarcoma of the corpus uteri|Mullerian adenosarcoma of the uterus|uterine corpus adenosarcoma|adenosarcoma of the uterine body|adenosarcoma of body of uterus|uterine corpus Müllerian adenosarcoma|uterine adenosarcoma|uterine corpus Mullerian adenosarcoma|adenosarcoma of uterine corpus|adenosarcoma of the uterine corpus|uterine body adenosarcoma|adenosarcoma of uterine body|adenosarcoma of the uterus|uterine corpus mullerian adenosarcoma|adenosarcoma of the body of uterus UMLS:CN201046|UMLS:C1336917|MESH:C538232|GARD:0009636|DOID:4113|ICD10:C54.2|Orphanet:213600|NCIT:C6336|ONCOTREE:UAS Editor note: check ONCOTREE mapping https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus owl:Class GO:1903055 biolink:NamedThing positive regulation of extracellular matrix organization Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. tmpak2llvmy_mondo_relaxed.owl activation of extracellular matrix organization|positive regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|up-regulation of extracellular matrix organization|activation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|activation of extracellular matrix organisation|up-regulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up regulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization|upregulation of extracellular matrix organization and biogenesis|positive regulation of extracellular matrix organisation|up regulation of extracellular matrix organization owl:Class GO:1903053 biolink:NamedThing regulation of extracellular matrix organization Any process that modulates the frequency, rate or extent of extracellular matrix organization. tmpak2llvmy_mondo_relaxed.owl regulation of extracellular matrix organization and biogenesis|regulation of extracellular matrix organisation owl:Class MONDO:0014450 biolink:NamedThing breasts and/or nipples, aplasia or hypoplasia of, 2 Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene. tmpak2llvmy_mondo_relaxed.owl BNAH2|breasts and/or nipples, aplasia or hypoplasia of, type 2|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF|breasts and/or nipples, aplasia or hypoplasia of, 2|PTPRF isolated congenital breast hypoplasia/aplasia UMLS:C4014918|OMIM:616001 owl:Class MONDO:0015855 biolink:NamedThing isolated congenital breast hypoplasia/aplasia tmpak2llvmy_mondo_relaxed.owl isolated congenital amastia|breasts and/or nipples, aplasia or hypoplasia of ICD10:Q83.0|OMIMPS:113700|Orphanet:180188 owl:Class MONDO:0019683 biolink:NamedThing syndactyly type 2 Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. tmpak2llvmy_mondo_relaxed.owl synpolydactyly|SPD SCTID:715724002|ICD10:Q70.0|ICD10:Q70.2|Orphanet:93403|GARD:0005087 owl:Class GO:0042325 biolink:NamedThing regulation of phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004101 biolink:NamedThing multicentric papillary thyroid carcinoma A papillary carcinoma arising from the thyroid gland from multiple foci. tmpak2llvmy_mondo_relaxed.owl multicentric papillary thyroid gland carcinoma|multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid carcinoma UMLS:C1334817|NCIT:C37304|DOID:7086 owl:Class MONDO:0005075 biolink:NamedThing thyroid gland papillary carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. tmpak2llvmy_mondo_relaxed.owl papillary cancer of the thyroid gland|papillary cancer of the thyroid|thyroid gland papillary cancer|papillary thyroid cancer|papillary carcinoma of thyroid gland|papillary carcinoma of the thyroid gland|papillary carcinoma of the thyroid|papillary thyroid carcinoma|thyroid gland papillary carcinoma|thyroid papillary carcinoma|papillary cancer of thyroid|papillary thyroid gland carcinoma|papillary cancer of thyroid gland|papillary carcinoma of thyroid SCTID:255029007|UMLS:C0238463|NCIT:C4035|GARD:0012027|EFO:0000641|HP:0002895|ONCOTREE:THPA|DOID:3969 owl:Class HGNC:29040 biolink:NamedThing SZT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005708 biolink:NamedThing Colorado tick fever A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. tmpak2llvmy_mondo_relaxed.owl Tick fever, American mountain|Colorado tick fever virus infectious disease|Colorado tick encephalitis|Colorado tick fever virus disease or disorder|American mountain fever|Colorado tick-borne disease|Mountain fever|Mountain tick fever|Colorado tick fever virus caused disease or disorder EFO:0007213|DOID:4885|UMLS:C0009400|MESH:D003121|ICD10:A93.2|ICD9:066.1|SCTID:6452009|Orphanet:83595|MedDRA:10010022 Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature owl:Class CHEBI:45696 biolink:NamedThing hydrogensulfate tmpak2llvmy_mondo_relaxed.owl hydrogensulfate|hydroxidotrioxidosulfate(1-)|[SO3(OH)](-)|HSO4(-)|hydrogentetraoxosulfate(VI)|HYDROGEN SULFATE|hydrogen(tetraoxidosulfate)(1-)|hydrogensulfate(1-)|hydrogentetraoxosulfate(1-) owl:Class UBERON:0034922 biolink:NamedThing cell cluster A cluster of cells, largely surrounded by a morphological boundary. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005731 biolink:NamedThing dipetalonemiasis A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. tmpak2llvmy_mondo_relaxed.owl Dipetalonema infectious disease|Dipetalonema infection|Mansonella perstans caused disease or disorder|infection by Dipetalonema perstans (disorder) [ambiguous]|infection by Dipetalonema|Acanthocheilonemiasis|infection by Dipetalonema perstans|Mansonella perstans disease or disorder|Mansonella perstans infectious disease|dipetalonemiasis|Acanthocheilonema perstans infection|Mansonella perstans|Dipetalonema infections NCIT:C34540|EFO:0007237|SCTID:15629006|UMLS:C0012517|GARD:0000004|MESH:D004154|DOID:14422|ICD9:125.4 Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms owl:Class HGNC:5213 biolink:NamedThing HSD17B4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030894 biolink:NamedThing AMED syndrome, digenic tmpak2llvmy_mondo_relaxed.owl AMEDS|AMED syndrome, digenic|bone marrow failure syndrome 7, digenic OMIM:619151 owl:Class MONDO:0000159 biolink:NamedThing bone marrow failure syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:614675|MESH:C536572|UMLS:C2931245 Genetic heterogeneity of OMIM 614675 includes 615715. owl:Class HGNC:559 biolink:NamedThing AP1S1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000064 biolink:NamedThing regulation of cortisol biosynthetic process Any process that modulates the frequency, rate or extent of cortisol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of cortisol biosynthesis|regulation of cortisol synthesis|regulation of cortisol anabolism|regulation of cortisol formation owl:Class MONDO:0009194 biolink:NamedThing immunodeficiency 32B A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. tmpak2llvmy_mondo_relaxed.owl CAEBV infection|IMD32B|immunodeficiency 32B|CEBV|chronic Epstein-Barr virus infection syndrome|IRF8 deficiency, autosomal recessive|chronic active Epstein-Barr disease|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|Epstein-Barr VIRUS, susceptibility to chronic infection by|CAEBV syndrome|chronic EBV infection syndrome|chronic active Epstein-Barr virus infection|monocyte and dendritic cell deficiency, autosomal recessive GARD:0009534|Orphanet:2566|ICD10:B27.0|OMIM:614894|OMIM:226990 https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection owl:Class HP:0007369 biolink:NamedThing Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. tmpak2llvmy_mondo_relaxed.owl UMLS:C4024898 peter 2008-04-01T10:28:00Z human_phenotype owl:Class HP:0002977 biolink:NamedThing Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. tmpak2llvmy_mondo_relaxed.owl Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue UMLS:C4025665 peter 2008-03-31T05:13:00Z HP:0001323 human_phenotype owl:Class HP:0007700 biolink:NamedThing Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. tmpak2llvmy_mondo_relaxed.owl Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect|Anterior chamber malformation|Anterior segment mesencyhmal dysgenesis|Anterior chamber cleavage disorder|Anterior segment dysgenesis SNOMEDCT_US:65075004|UMLS:C0266525 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. HP:0007696|HP:0007699|HP:0008040 human_phenotype owl:Class ECTO:0001055 biolink:NamedThing exposure to decreased air temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in temperature of air owl:Class MONDO:0002509 biolink:NamedThing non-specific granulomatous orchitis Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. tmpak2llvmy_mondo_relaxed.owl granulomatous orchitis UMLS:C0436545|SCTID:50390006|DOID:3089|NCIT:C27162 owl:Class MONDO:0018938 biolink:NamedThing mucopolysaccharidosis type 4 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis type IVB|Morquio syndrome|Morquio A disease|MPS IV - Morquio syndrome B|Morquio syndrome A|chondroosteodystrophy|mucopolysaccharidosis, MPS-IV|MPS4|Morquio disease|mucopolysaccharidosis type IV|mucopolysaccharidosis, MPS-IV-A|mucopolysaccharidosis type IVA|MPSIV|deficiency of chondroitinsulphatase|galactosamine-6-sulfatase deficiency|mucopolysaccharidosis type 4|mucopolysaccharidosis IV|deficiency of N-acetylgalactosamine-6-sulphatase|MPS IV - Morquio syndrome A|Osteochondrodystrophy NCIT:C61263|ICD10:E76.2|ICD10:E76.219|GARD:0012562|SCTID:378007|Orphanet:582|ICD10:E76.210|UMLS:C0026707|MedDRA:10028095|DOID:12804 owl:Class GO:0065008 biolink:NamedThing regulation of biological quality Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. tmpak2llvmy_mondo_relaxed.owl regulation of biological attribute|regulation of biological characteristic owl:Class MONDO:0002150 biolink:NamedThing hypothalamic disease Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. tmpak2llvmy_mondo_relaxed.owl disease or disorder of hypothalamus|disease of hypothalamus|disorder of hypothalamus|hypothalamus disease or disorder|hypothalamus disease MESH:D007027|SCTID:399100005|ICD9:253.9|UMLS:C0020655|DOID:1931 owl:Class MONDO:0009990 biolink:NamedThing Revesz syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. tmpak2llvmy_mondo_relaxed.owl DKCA5|Revesz-DeBuse syndrome|dyskeratosis congenita, autosomal dominant 5|exudative retinopathy with bone marrow failure|dyskeratosis congenita with bilateral exudative retinopathy|Revesz syndrome|retinopathy-anemia-central nervous system anomalies syndrome MESH:C538371|UMLS:C1327916|DOID:0070026|NCIT:C152064|OMIM:268130|Orphanet:3088|SCTID:723512008|GARD:0004695 https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome owl:Class NCBITaxon:10116 biolink:NamedThing Rattus norvegicus tmpak2llvmy_mondo_relaxed.owl rats|brown rat|Norway rat|rat GC_ID:1 NCBITaxon:36465 ncbi_taxonomy owl:Class NCBITaxon:10114 biolink:NamedThing Rattus tmpak2llvmy_mondo_relaxed.owl rats|rat GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019445 biolink:NamedThing trichofolliculoma Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. tmpak2llvmy_mondo_relaxed.owl ICDO:8101/0|MESH:C536553|NCIT:C4112|GARD:0005263|Orphanet:864|MedDRA:10044611|UMLS:C0334262|SCTID:274899008 https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma owl:Class MONDO:0008913 biolink:NamedThing cardiac valvular defect, developmental tmpak2llvmy_mondo_relaxed.owl CVDD|CARDIAC valvular defect, developmental|cardiac valvular defect, developmental UMLS:C1859330|DOID:0080633|OMIM:212093|MESH:C565882 owl:Class MONDO:0018469 biolink:NamedThing pulmonary non-tuberculous mycobacterial infection tmpak2llvmy_mondo_relaxed.owl non-tuberculous mycobacterial lung disease|nontuberculous mycobacterial lung disease UMLS:CN237452|Orphanet:411703|ICD10:A31.0|GARD:0012829 owl:Class MONDO:0014584 biolink:NamedThing congenital myasthenic syndrome 3B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome type 3B|CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome 3B, fast-channel UMLS:C4225371|OMIM:616322|DOID:0110665 owl:Class FOODON:00003203 biolink:NamedThing food harvesting A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism. tmpak2llvmy_mondo_relaxed.owl This includes harvesting from plants, hunting a deer, or milking process of a cow. The food is derived from part or whole of a single organism species (with perhaps a few exceptions, such as lichen). owl:Class FOODON:00002451 biolink:NamedThing food transformation process A process involving the physical transformation of a food source or food product into some derived organic material or food product tmpak2llvmy_mondo_relaxed.owl requires discussion Damion Dooley owl:Class MONDO:0021641 biolink:NamedThing Bunyaviridae infectious disease Virus diseases caused by the bunyaviridae. tmpak2llvmy_mondo_relaxed.owl disease due to Bunyaviridae|disease caused by Bunyavirus|Bunyaviridae disease or disorder|infections, Bunyaviridae|Bunyaviridae caused disease or disorder|Bunyavirus infection|Bunyavirus infections|disease caused by Bunyaviridae|infections, Bunyavirus|Bunyaviridae infection|disease due to Bunyavirus|Bunyaviridae infectious disease EFO:0007188|SCTID:105632002|MESH:D002044 owl:Class GO:0061620 biolink:NamedThing glycolytic process through glucose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018078 biolink:NamedThing soft tissue sarcoma A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. tmpak2llvmy_mondo_relaxed.owl soft part sarcoma|non-Rhabdo. soft tissue sarcoma|malignant soft tissue tumor|sarcoma of the soft tissue|connective tissue sarcoma|malignant mesenchymal tumor|soft tissue sarcoma|sarcoma of soft tissue GARD:0004898|UMLS:CN204398|SCTID:424952003|EFO:1001968|Orphanet:3394|NCIT:C9306 owl:Class MONDO:0016481 biolink:NamedThing silver-Russell syndrome due to 11p15 microduplication tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.1|Orphanet:231144|UMLS:CN201476 owl:Class MONDO:0008238 biolink:NamedThing phosphatase, acid, of tissues tmpak2llvmy_mondo_relaxed.owl Acp3--Alpha polypeptide|lysosomal acid phosphatase|phosphatase, acid, of tissues OMIM:171660 owl:Class UBERON:0002093 biolink:NamedThing spinal dura mater A dura mater that is part of a spinal cord [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dura mater of neuraxis of spinal cord|spinal cord dura mater|spinal cord dura mater of neuraxis|dura mater of spinal cord owl:Class MONDO:0033014 biolink:NamedThing erythrokeratodermia variabilis et progressiva 4 tmpak2llvmy_mondo_relaxed.owl erythrokeratodermia variabilis et progressiva 4|erythrokeratodermia variabilis ET progressiva 4|EKVP4 DOID:0080250|OMIM:617526|UMLS:C4479620 owl:Class MONDO:0017851 biolink:NamedThing erythrokeratodermia variabilis A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. tmpak2llvmy_mondo_relaxed.owl erythrokeratodermia, progressive symmetric|keratosis palmoplantaris transgrediens Et progrediens|progressive symmetric erythrokeratodermia|progressive symmetric erythrokeratodermia, Gottron type|EKV|erythrokeratodermia variabilis with erythema gyratum repens|erythrokeratodermia progressiva symmetrica|erythrokeratodermia Figurata, congenital familial, in plaques|erythrokeratodermia variabilis|erythrokeratodermia variabilis, Mendes da Costa type|Darier-Gottron disease|erythrokeratodermia variabilis ET progressiva|Greither's disease|erythrokeratodermia figurata, congenital familial, in plaques|keratosis palmoplantaris transgrediens et progrediens|EKVP|keratosis extremitatum hereditaria progrediens|erythrokeratodermia Figurata variabilis|keratoderma palmoplantaris transgrediens|erythrokeratodermia variabilis with erythema Gyratum Repens GARD:0003096|MedDRA:10049048|UMLS:C0265961|SCTID:70041004|Orphanet:316|MESH:C536154|MESH:D056266|NCIT:C84696|ICD10:Q82.8|Orphanet:317|OMIMPS:133200|DOID:0050467 https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens owl:Class GO:1904676 biolink:NamedThing negative regulation of somatic stem cell division Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. tmpak2llvmy_mondo_relaxed.owl down regulation of somatic stem cell renewal|inhibition of somatic stem cell division|downregulation of somatic stem cell division|down-regulation of somatic stem cell renewal|down regulation of somatic stem cell division|down-regulation of somatic stem cell division|negative regulation of somatic stem cell renewal|inhibition of somatic stem cell renewal|downregulation of somatic stem cell renewal owl:Class GO:1904675 biolink:NamedThing regulation of somatic stem cell division Any process that modulates the frequency, rate or extent of somatic stem cell division. tmpak2llvmy_mondo_relaxed.owl regulation of somatic stem cell renewal owl:Class UBERON:0004808 biolink:NamedThing gastrointestinal system epithelium An epithelium that is part of a digestive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of gastrointestinal system|epithelium of digestive system|digestive system epithelium|gastrointestinal system epithelial tissue|digestive system epithelial tissue|epithelial tissue of gastrointestinal system|epithelial tissue of digestive system owl:Class MONDO:0000400 biolink:NamedThing mixed cerebral palsy A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. tmpak2llvmy_mondo_relaxed.owl DOID:0050673|SCTID:702318008|UMLS:C0751024|NCIT:C97177|ICD9:343.8 owl:Class MONDO:0005161 biolink:NamedThing human papilloma virus infection An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. tmpak2llvmy_mondo_relaxed.owl Human papilloma Virus infection|Human papillomavirus infectious disease|Human Papillomavirus infection|Human papillomavirus disease or disorder|Human papillomavirus caused disease or disorder ICD9:079.4|UMLS:C0343641|SCTID:240532009|NCIT:C27851|EFO:0001668 owl:Class MONDO:0021752 biolink:NamedThing Achard-Thiers syndrome Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women tmpak2llvmy_mondo_relaxed.owl diabetes in bearded women|diabetic-bearded woman syndrome|Achard Thiers syndrome MESH:C536013|UMLS:C0271732|SCTID:34041001|GARD:0005709 https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome owl:Class MONDO:0013498 biolink:NamedThing schizophrenia 15 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. tmpak2llvmy_mondo_relaxed.owl schizophrenia 15 with or without an affective disorder|SCZD15|schizophrenia 15|schizophrenia susceptibility locus, chromosome 22Q13-related|schizophrenia type 15 UMLS:C3151380|DOID:0070091|OMIM:613950 owl:Class MONDO:0006278 biolink:NamedThing lung papilloma A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction. tmpak2llvmy_mondo_relaxed.owl lung papilloma|papilloma of the respiratory tract|respiratory tract papilloma|papilloma of respiratory tract NCIT:C8295|UMLS:C0281373|EFO:1000335 owl:Class MONDO:0024456 biolink:NamedThing anterior segment dysgenesis 3 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1) tmpak2llvmy_mondo_relaxed.owl IGDA|glaucoma iridogoniodysgenesia|iridogoniodysgenesis anomaly, autosomal dominant|iridogoniodysgenesis, type 1|FOXC1 iridogoniodysgenesis|IGDA syndrome|glaucoma iridogoniodysplasia, familial|ASGD3|iridogoniodysgenesis caused by mutation in FOXC1|IRID1|iridogoniodysgenesis type 1|iris hypoplasia with glaucoma|anterior segment dysgenesis 3 MESH:C535535|GARD:0002978|OMIM:601631|GARD:0002482|DOID:0080608 Editor note: check GARD re 2482 https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia owl:Class MONDO:0030134 biolink:NamedThing oculopharyngodistal myopathy 2 tmpak2llvmy_mondo_relaxed.owl OCULOPHARYNGODISTAL MYOPATHY 2|oculopharyngodistal myopathy 2|OPDM2 OMIM:618940 owl:Class GO:0019538 biolink:NamedThing protein metabolic process The chemical reactions and pathways involving a protein. Includes protein modification. tmpak2llvmy_mondo_relaxed.owl protein metabolic process and modification|multicellular organismal protein metabolic process|protein metabolism and modification|protein metabolism owl:Class GO:0044238 biolink:NamedThing primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpak2llvmy_mondo_relaxed.owl primary metabolism owl:Class MONDO:0003744 biolink:NamedThing spindle cell intraocular melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. tmpak2llvmy_mondo_relaxed.owl spindle cell uveal melanoma|spindle cell melanoma of the uvea|spindle cell melanoma of uvea|uveal spindle cell melanoma UMLS:C0279687|DOID:6037|NCIT:C7986 owl:Class MONDO:0006427 biolink:NamedThing spindle cell melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes. tmpak2llvmy_mondo_relaxed.owl spindle cell melanoma|desmoplastic melanoma|malignant spindle cell melanoma|spitzoid malignant melanoma|spindle cell malignant melanoma ICDO:8772/3|UMLS:C0334444|SCTID:403923002|DOID:3162|EFO:1000546|NCIT:C4237 owl:Class MONDO:0011618 biolink:NamedThing liver fibrocystic disease and polydactyly tmpak2llvmy_mondo_relaxed.owl liver fibrocystic disease and polydactyly UMLS:C1853827|MESH:C565272|OMIM:605944 owl:Class MONDO:0014483 biolink:NamedThing retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies tmpak2llvmy_mondo_relaxed.owl RDGCA|retinal dystrophy with inner nuclear layer and ganglion cell anomalies|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities ICD10:H35.5|Orphanet:397758|UMLS:C4015146|OMIM:616079 owl:Class NCBITaxon:8016 biolink:NamedThing Oncorhynchus tmpak2llvmy_mondo_relaxed.owl Parasalmo GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007539 biolink:NamedThing encephalopathy, recurrent, of childhood tmpak2llvmy_mondo_relaxed.owl encephalopathy, recurrent, of childhood|Neuhauser Eichner Opitz syndrome|encephalopathy recurrent of childhood GARD:0002117|Orphanet:2672|MESH:C536407|OMIM:130950 https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood owl:Class UBERON:0002428 biolink:NamedThing limb bone A bone that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone of limb|bone of extremity|free limb bone owl:Class UBERON:0015061 biolink:NamedThing limb endochondral element A limb bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl limb bone skeletal element|limb bone endochondral element owl:Class MONDO:0024422 biolink:NamedThing auditory perceptual disorders Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. tmpak2llvmy_mondo_relaxed.owl Inattentions, auditory|Psychoacoustical disorders|comprehension disorder, auditory|auditory comprehension disorders|auditory processing disorder|perceptual disorders, auditory|disorder of sensory perception of sound|disorders, auditory processing|acoustic perceptual disorder|auditory processing disorders|comprehension disorders, auditory|disorders, auditory comprehension|disorders, acoustic perceptual|perceptual disorder, auditory|processing disorders, auditory|disorder, auditory comprehension|sensory perception of sound disease|Psychoacoustical disorder|acoustic perceptual disorders|auditory Inattentions|perceptual disorder, acoustic|disorder, Psychoacoustical|auditory inattention|processing disorder, auditory|disorder, auditory processing|disorders, Psychoacoustical|disorder, acoustic perceptual|auditory comprehension disorder|inattention, auditory|auditory perceptual disorder|perceptual disorders, acoustic MESH:D001308|UMLS:C0751257|NCIT:C84575|SCTID:229752008 owl:Class MONDO:0100024 biolink:NamedThing self-limited familial and non-familial infantile seizures This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. tmpak2llvmy_mondo_relaxed.owl 2018-06-22 23:46:09+00:00 owl:Class MONDO:0010069 biolink:NamedThing spondylocostal dysostosis-anal and genitourinary malformations syndrome Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl Casamassima-Morton-Nance syndrome|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|spondylocostal dysostosis with anal atresia and urogenital anomalies|CMn syndrome UMLS:C1849069|OMIM:271520|ICD10:Q87.8|MESH:C564799|Orphanet:94095 owl:Class MONDO:0100057 biolink:NamedThing food-dependent exercise-induced anaphylaxis A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis. tmpak2llvmy_mondo_relaxed.owl 2018-08-15 17:55:08+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class MONDO:0100056 biolink:NamedThing exercise-induced anaphylaxis A rare disorder in which anaphylaxis occurs in association with physical activity. tmpak2llvmy_mondo_relaxed.owl EIAn 2018-08-15 17:51:10+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class GO:0120178 biolink:NamedThing steroid hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any steroid hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002840 biolink:NamedThing eosinophilic gastritis An eosinophilic gastroenteritis that is characterized by inflammation of the stomach. tmpak2llvmy_mondo_relaxed.owl eosinophilic gastritis NCIT:C27052|ICD9:535.70|SCTID:66329006|DOID:4030|ICD9:535.7|ICD9:535.40|UMLS:C0267154 https://github.com/monarch-initiative/mondo/issues/403 owl:Class MONDO:0002846 biolink:NamedThing granulomatous gastritis Gastritis that is associated with the presence of granulomas. tmpak2llvmy_mondo_relaxed.owl granulomatous gastritis NCIT:C27348|DOID:4038|UMLS:C1112577|ICD10:K29.6 owl:Class MONDO:0021162 biolink:NamedThing carotenemia tmpak2llvmy_mondo_relaxed.owl ICD9:278.3|ICD10:E67.1|UMLS:C0154271 owl:Class UBERON:0035552 biolink:NamedThing deep vein A blood vessel carrying deoxygenated blood far beneath the skin usually accompanying an artery. tmpak2llvmy_mondo_relaxed.owl deep veins|deep vessels owl:Class MONDO:0020435 biolink:NamedThing atrial septal defect, coronary sinus type tmpak2llvmy_mondo_relaxed.owl coronary sinus atrial septal defects|ASD, coronary sinus type|atrial septal defect coronary sinus|unroofed coronary sinus|ASD coronary sinus ICD10:Q21.1|Orphanet:99104|SCTID:40272001|ICD9:746.89|GARD:0010697 https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus owl:Class MONDO:0010923 biolink:NamedThing proximal myopathy with focal depletion of mitochondria tmpak2llvmy_mondo_relaxed.owl proximal myopathy with focal depletion of mitochondria UMLS:C1833453|MESH:C563453|Orphanet:521305|OMIM:600706 owl:Class UBERON:0001568 biolink:NamedThing muscle of larynx The muscles associated with the larynx. tmpak2llvmy_mondo_relaxed.owl laryngeal muscle|muscle organ of larynx|larynx muscle organ|larynx muscle|musculi laryngeales owl:Class UBERON:0002377 biolink:NamedThing muscle of neck Any muscle that is part of the cervical (neck) region. tmpak2llvmy_mondo_relaxed.owl neck muscle|muscle organ of neck (volume)|muscle organ of neck|neck (volume) muscle organ|neck muscle organ owl:Class MONDO:0009690 biolink:NamedThing congenital myasthenic syndrome 10 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in DOK7|myasthenic syndrome, congenital, type 10|Cms Ib|CMS Ib|myasthenic myopathy, formerly|LGM|CMS1B|familial limb-girdle myasthenia|Cms Ib, formerly|myasthenic myopathy|congenital myasthenic syndrome type IB, formerly|myasthenia, limb-girdle, familial|myasthenia, limb-girdle, familial, formerly|DOK7 congenital myasthenic syndrome|congenital myasthenic syndrome 10|congenital myasthenic syndrome type IB|CMS10|myasthenic syndrome, congenital, 10|congenital myasthenic syndrome type 10 SCTID:230687001|ICD9:358.00|DOID:0110668|OMIM:254300 owl:Class UBERON:0012274 biolink:NamedThing columnar epithelium An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified] tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:583 biolink:NamedThing Proteus tmpak2llvmy_mondo_relaxed.owl Liquidobacterium|Proteus GC_ID:11|PMID:26944634 ncbi_taxonomy owl:Class NCBITaxon:1903414 biolink:NamedThing Morganellaceae tmpak2llvmy_mondo_relaxed.owl Morganellaceae Adeolu et al. 2016 GC_ID:11|PMID:27620848 ncbi_taxonomy owl:Class MONDO:0011183 biolink:NamedThing Paget disease of bone 2, early-onset tmpak2llvmy_mondo_relaxed.owl PDB2|Paget disease of bone 2, early-onset OMIM:602080|UMLS:C4085251 owl:Class MONDO:0005382 biolink:NamedThing bone Paget disease A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. tmpak2llvmy_mondo_relaxed.owl Pagets disease (bone)|osseous Paget's disease|Paget's disease of the bone|familial Paget's disease of bone|Paget's bone disease|Paget disease of bone|bone Paget disease|Paget's disease of bone|bone Paget's disease|osteitis deformans|Paget's disease OMIMPS:167250|DOID:5408|ICD10:M88|SCTID:2089002|EFO:0004261|UMLS:C0029401|NCIT:C3292 owl:Class UBERON:0013701 biolink:NamedThing main body axis A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023563 biolink:NamedThing Kotzot-Richter syndrome tmpak2llvmy_mondo_relaxed.owl albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies MESH:C537025|UMLS:C2931399|GARD:0003134 https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome owl:Class NCBITaxon:10358 biolink:NamedThing Cytomegalovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030012 biolink:NamedThing Diets-Jongmans syndrome tmpak2llvmy_mondo_relaxed.owl DIETS-JONGMANS SYNDROME|DIJOS|diets-jongmans syndrome|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism OMIM:618846 owl:Class NCBITaxon:27829 biolink:NamedThing Strongyloidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003671 biolink:NamedThing septal myocardial infarction A myocardial infarction (disease) that involves the cardiac septum. tmpak2llvmy_mondo_relaxed.owl cardiac septum myocardial infarction (disease)|myocardial infarction (disease) of cardiac septum DOID:5846 owl:Class MONDO:0014419 biolink:NamedThing ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. tmpak2llvmy_mondo_relaxed.owl Poretti-Boltshauser syndrome|PORETTI-Boltshauser syndrome|PTBHS|ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome UMLS:C4014821|Orphanet:370022|OMIM:615960|ICD10:G11.1 owl:Class OBO:CHR_9606-chr1p36 biolink:NamedThing chr1p36 (Human) tmpak2llvmy_mondo_relaxed.owl 27600000 0 hg38 owl:Class MONDO:0007854 biolink:NamedThing keratolytic winter erythema Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl Erythrokeratolysis hiemalis|KWE|Oudtshoorn disease|keratolytic winter erythema|keratolytic WINTER erythema|Oudtshoorn skin disease|Oudtshoorn skin|Erythrokeratolysis hiemalis ichthyosis Orphanet:50943|SCTID:239064000|OMIM:148370|MESH:C536155|ICD9:695.89|UMLS:C0406756|GARD:0008275 https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema owl:Class GO:0034248 biolink:NamedThing regulation of cellular amide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpak2llvmy_mondo_relaxed.owl regulation of amide metabolism owl:Class MONDO:0023235 biolink:NamedThing giant congenital nevus A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. tmpak2llvmy_mondo_relaxed.owl bathing trunk nevus|GPHN|large congenital melanocytic nevus|congenital giant pigmented nevus|congenital hairy nevus|giant pigmented hairy nevus|giant pigmented nevus|giant congenital Nevus|giant congenital melanocytic nevus|giant pigmented Nevus of skin|bathing trunk Nevus|giant pigmented Nevus of the skin|giant hairy nevus SCTID:254815002|NCIT:C4234|GARD:0002469|ICDO:8761/1 https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus owl:Class UBERON:0003695 biolink:NamedThing metacarpophalangeal joint The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl carpometacarpophalangeal joint|metacarpal phalangeal joint|metacarpal joint|MP joint|metacarpo-phalangeal joint|articulationes metacarpophalangeae owl:Class MONDO:0000245 biolink:NamedThing tinea imbricata A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. tmpak2llvmy_mondo_relaxed.owl SCTID:240699006|UMLS:C0040255|DOID:0050116|ICD10:B35.5 owl:Class MONDO:0001461 biolink:NamedThing tinea corporis A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. tmpak2llvmy_mondo_relaxed.owl dermatophytosis of the trunk|dermatophytosis of the body ICD9:110.5|DOID:12179|SCTID:84849002|ICD10:B35.4|UMLS:C0546826|UMLS:C0040252 owl:Class MONDO:0016695 biolink:NamedThing oligodendroglioma A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl well differentiated oligodendroglioma|well differentiated oligodendroglial tumor|WHO grade II oligodendroglial tumor|WHO grade II oligodendroglial neoplasm|oligodendroglioma|oligodendroglial neoplasm|oligodendroglial tumor ICD10:C79.1|DOID:3181|Orphanet:251627|ICD10:C71.9|ICDO:9450/3|NCIT:C3288|MESH:D009837|ONCOTREE:ODG|MedDRA:10030286|GARD:0009953 owl:Class MONDO:0021945 biolink:NamedThing hearing disorder A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. tmpak2llvmy_mondo_relaxed.owl auditory alteration|disorder of hearing|hearing disorder NCIT:C3078|MESH:D006311|SCTID:128540005|UMLS:C0260662 owl:Class UBERON:0009644 biolink:NamedThing trachea non-cartilage connective tissue tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008641 biolink:NamedThing retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. tmpak2llvmy_mondo_relaxed.owl RVCL-S|ADRVCL|RVCL|retinal vasculopathy with cerebral leukodystrophy|hereditary vascular retinopathy|grand-Kaine-fulling syndrome|grand Kaine fulling syndrome|vasculopathy, retinal, with cerebral leukodystrophy|cerebroretinal vasculopathy, hereditary|CRV|cerebroretinal vasculopathy|retinal vasculopathy and cerebral leukoencephalopathy|HVR|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|autosomal dominant retinal vasculopathy with cerebral leukodystrophy GARD:0010535|GARD:0001217|SCTID:720854004|SCTID:721141004|OMIM:192315|Orphanet:247691|UMLS:C1860518|MESH:C566007|DOID:0111567|GARD:0002558 Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy|https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome|https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy owl:Class MONDO:0002769 biolink:NamedThing leukorrhea Whitish or yellowish mucosal vaginal discharge. tmpak2llvmy_mondo_relaxed.owl leukorrhea of vagina|discharge - leukorrhea MESH:D007973|ICD10:N89.8|DOID:3766 owl:Class MONDO:0002770 biolink:NamedThing vaginal discharge Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. tmpak2llvmy_mondo_relaxed.owl Discharge, vaginal NCIT:C50795|DOID:3767|MESH:D019522 owl:Class MONDO:0015485 biolink:NamedThing primary hereditary glaucoma tmpak2llvmy_mondo_relaxed.owl primary glaucoma Orphanet:156005 owl:Class UBERON:0009670 biolink:NamedThing rectal lumen An anatomical space that surrounded_by a rectum. tmpak2llvmy_mondo_relaxed.owl lumen of rectum owl:Class MONDO:0009561 biolink:NamedThing alpha-mannosidosis Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Alpha-D-mannosidosis|Alpha-mannosidase B deficiency|MANSA|lysosomal Alpha-D-mannosidase deficiency|alpha-mannosidosis|deficiency of alpha-mannosidase|mannosidosis, ALPHA B, lysosomal|alpha-mannosidase deficiency|Alpha mannosidase B deficiency|lysosomal alpha-D-mannosidase deficiency|mannosidosis, alpha B lysosomal UMLS:C0024748|GARD:0006968|OMIM:248500|SCTID:65524005|DOID:3413|MESH:D008363|ICD9:271.8|NCIT:C84548|ICD10:E77.1|Orphanet:61 https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis owl:Class UBERON:0004675 biolink:NamedThing hypoglossal nerve root A nerve root that extends_fibers_into a hypoglossal nerve. tmpak2llvmy_mondo_relaxed.owl root of hypoglossal nerve|hypoglossal nerve root|central part of hypoglossal nerve|hypoglossal nerve fibers|fibrae nervi hypoglossi|hypoglossal nerve fiber bundle|hypoglossal nerve tract|hypoglossal nerve/ root owl:Class HGNC:12519 biolink:NamedThing UCP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016433 biolink:NamedThing dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome Orphanet:2282|UMLS:CN201392|ICD10:Q87.8 owl:Class MONDO:0007987 biolink:NamedThing Kniest dysplasia Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). tmpak2llvmy_mondo_relaxed.owl Kniest dysplasia DOID:0080045|MESH:C537207|NCIT:C125594|GARD:0006841|Orphanet:485|SCTID:53974002|ICD10:Q77.7|ICD9:756.9|UMLS:C0265279|OMIM:156550 https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia owl:Class MONDO:0100050 biolink:NamedThing Usher syndrome, type 1D/F Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, type 1D/F, CDH23/PCDH15, digenic|USH1D/F, CDH23/PCDH15, digenic http://orcid.org/0000-0001-5208-3432 owl:Class GO:1905207 biolink:NamedThing regulation of cardiocyte differentiation Any process that modulates the frequency, rate or extent of cardiocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of cardiac cell differentiation|regulation of heart cell differentiation owl:Class MONDO:0007404 biolink:NamedThing Cri-du-chat syndrome Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Cat-Cry syndrome|Cat Cry syndrome|5p minus syndrome|monosomy 5p|5p deletion syndrome|5p- syndrome|5p partial monosomy syndrome|deletion 5p|monosomy type 5p|chromosome 5p- syndrome|chromosome 5 short arm deletion syndrome|Cri du chat syndrome|chromosome 5p deletion syndrome|chromosome 5P deletion syndrome|Cri-du-chat syndrome ICD10:Q93.4|DOID:12580|MedDRA:10011385|UMLS:C0010314|UMLS:CN776901|Orphanet:281|OMIM:123450|ICD9:758.31|NCIT:C34518|SCTID:70173007|ICD9:758.39|GARD:0006213|MESH:D003410 owl:Class MONDO:0016887 biolink:NamedThing partial deletion of the short arm of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the short arm of chromosome 5|partial deletion of the short arm of chromosome type 5|partial deletion of chromosome 5p|partial monosomy of chromosome 5p ICD10:Q93.4|Orphanet:261893 owl:Class MONDO:0013177 biolink:NamedThing congenital muscular dystrophy due to integrin alpha-7 deficiency Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|congenital muscular dystrophy with integrin alpha-7 deficiency|myopathy, congenital, due to integrin Alpha-7 deficiency|ITGA7 congenital muscular dystrophy|congenital muscular dystrophy caused by mutation in ITGA7|muscular dystrophy, congenital, due to ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|congenital muscular dystrophy with ITGA7 deficiency Orphanet:34520|DOID:0110639|GARD:0012587|ICD10:G71.2|UMLS:C2750786|MESH:C567709|OMIM:613204 owl:Class MONDO:0016150 biolink:NamedThing qualitative or quantitative defects of integrin alpha-7 tmpak2llvmy_mondo_relaxed.owl Integrinopathy Orphanet:207098 owl:Class NCBITaxon:3760 biolink:NamedThing Prunus persica tmpak2llvmy_mondo_relaxed.owl Amygdalus persica|peach|Persica vulgaris GC_ID:1 NCBITaxon:203801 ncbi_taxonomy owl:Class NCBITaxon:3754 biolink:NamedThing Prunus tmpak2llvmy_mondo_relaxed.owl Prunus subg. Cerasus|Prunus subg. Amygdalus|Prunus subg. Armeniaca PMID:24631854|GC_ID:1 NCBITaxon:203800|NCBITaxon:140650 ncbi_taxonomy owl:Class MONDO:0019485 biolink:NamedThing idiopathic hemiconvulsion-hemiplegia syndrome A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory. tmpak2llvmy_mondo_relaxed.owl HHE syndrome|hemiconvulsion-hemiplegia-epilepsy syndrome|IHHS Orphanet:86908|ICD10:G40.4|SCTID:230407006 owl:Class GO:0072527 biolink:NamedThing pyrimidine-containing compound metabolic process The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. tmpak2llvmy_mondo_relaxed.owl pyrimidine and derivative metabolic process|pyrimidine-containing compound metabolism owl:Class NCBITaxon:53527 biolink:NamedThing Culex tmpak2llvmy_mondo_relaxed.owl Culex GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7174 biolink:NamedThing Culex tmpak2llvmy_mondo_relaxed.owl Culex GC_ID:1 NCBITaxon:44555 ncbi_taxonomy owl:Class UBERON:0015717 biolink:NamedThing smooth muscle tissue layer of ejaculatory duct A smooth muscle tissue that is part of a ejaculatory duct. tmpak2llvmy_mondo_relaxed.owl muscle layer of ejaculatory duct owl:Class MONDO:0032726 biolink:NamedThing combined oxidative phosphorylation deficiency 39 tmpak2llvmy_mondo_relaxed.owl COXPD39|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 DOID:0111475|Orphanet:565624|OMIM:618397 owl:Class MONDO:0006090 biolink:NamedThing appendix hyperplastic polyp A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia. tmpak2llvmy_mondo_relaxed.owl vermiform appendix hyperplastic polyp|appendix metaplastic polyp NCIT:C96416|EFO:1000091|UMLS:C3272761 owl:Class MONDO:0006249 biolink:NamedThing hyperplastic polyp A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000). tmpak2llvmy_mondo_relaxed.owl MP|HP|metaplastic polyp NCIT:C4083|EFO:1000299|UMLS:C0333983 owl:Class MONDO:0007377 biolink:NamedThing granular corneal dystrophy type I Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. tmpak2llvmy_mondo_relaxed.owl GCD1|CDGG1|granular corneal dystrophy type 1|GCDI|corneal dystrophy, Groenouw type I|classic GCD|granular corneal dystrophy, type 1|corneal dystrophy, punctate or nodular|classic granular corneal dystrophy|corneal dystrophy punctate or nodular|corneal dystrophy granular type|corneal dystrophy Groenouw type I|Groenouw type I corneal dystrophy|corneal dystrophy, Groenouw type 1 UMLS:C1641846|DOID:0080530|Orphanet:98962|SCTID:419039007|GARD:0009677|MESH:C537304|ICD10:H18.5|OMIM:121900 owl:Class GO:1903771 biolink:NamedThing positive regulation of beta-galactosidase activity Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity. tmpak2llvmy_mondo_relaxed.owl up regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-lactosidase activity|positive regulation of oryzatym|up-regulation of oryzatym|upregulation of S 2107|upregulation of beta-galactosidase activity|up-regulation of beta-galactosidase activity|activation of lactozym|up-regulation of S 2107|activation of trilactase activity|up regulation of hydrolact|up regulation of beta-lactosidase activity|positive regulation of lactozym|positive regulation of beta-D-galactanase activity|upregulation of sumiklat|up regulation of sumiklat|activation of maxilact|activation of beta-galactosidase activity|up regulation of beta-D-galactoside galactohydrolase activity|activation of beta-D-galactoside galactohydrolase activity|up-regulation of sumiklat|up-regulation of lactose hydrolysis|activation of S 2107|up-regulation of lactozym|upregulation of lactozym|positive regulation of maxilact|up-regulation of beta-D-lactosidase activity|up regulation of beta-D-lactosidase activity|up regulation of S 2107|up-regulation of trilactase activity|up-regulation of beta-D-galactoside galactohydrolase activity|activation of sumiklat|upregulation of lactose hydrolysis|activation of beta-D-lactosidase activity|upregulation of oryzatym|positive regulation of exo-(1->4)-beta-D-galactanase activity|positive regulation of lactose hydrolysis|activation of beta-D-galactanase activity|upregulation of hydrolact|upregulation of beta-D-galactoside galactohydrolase activity|positive regulation of beta-D-galactoside galactohydrolase activity|positive regulation of trilactase activity|up-regulation of beta-D-galactanase activity|positive regulation of hydrolact|up regulation of trilactase activity|up-regulation of hydrolact|positive regulation of S 2107|up-regulation of exo-(1->4)-beta-D-galactanase activity|activation of lactose hydrolysis|up regulation of lactose hydrolysis|upregulation of beta-D-galactanase activity|activation of oryzatym|positive regulation of sumiklat|positive regulation of beta-D-lactosidase activity|up regulation of maxilact|up regulation of oryzatym|positive regulation of beta-lactosidase activity|upregulation of beta-lactosidase activity|upregulation of beta-D-lactosidase activity|upregulation of exo-(1->4)-beta-D-galactanase activity|activation of beta-lactosidase activity|activation of exo-(1->4)-beta-D-galactanase activity|upregulation of maxilact|up regulation of beta-D-galactanase activity|activation of hydrolact|up-regulation of maxilact|up regulation of lactozym|upregulation of trilactase activity|up regulation of beta-galactosidase activity owl:Class MONDO:0019570 biolink:NamedThing Cockayne syndrome type 2 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. tmpak2llvmy_mondo_relaxed.owl Cockayne syndrome type 2|CSB|Cockayne syndrome B|Cockayne syndrome type II|Cockayne syndrome type B NCIT:C135726|OMIM:133540|UMLS:C0751038|GARD:0001420|ICD10:Q87.8|Orphanet:90322 owl:Class GO:0080144 biolink:NamedThing amino acid homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019534 biolink:NamedThing mixed-type autoimmune hemolytic anemia Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. tmpak2llvmy_mondo_relaxed.owl mixed AIHA SCTID:718716008|Orphanet:90036|ICD10:D59.1|UMLS:C4305257 owl:Class MONDO:0020108 biolink:NamedThing autoimmune hemolytic anemia Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl anemia hemolytic autoimmune|AHA|familial auto-immune hemolytic anemia (subtype)|autoimmune hemolytic anemia|anemia, autoimmune hemolytic|idiopathic autoimmune hemolytic anemia|autoimmune haemolytic anaemia|AIHA|acquired autoimmune hemolytic anemia|immuno-hemolytic anemia ICD10:D59.1|DOID:718|MESH:D000744|ICD9:283.0|CSP:0427-1178|Orphanet:98375|SCTID:413603009|OMIM:205700|ICD10:D59.0|MedDRA:10002046|GARD:0005870|NCIT:C34378|EFO:1001264|UMLS:C0002880 owl:Class UBERON:0010399 biolink:NamedThing spleen trabecular artery one of the branches of the splenic artery[MP] tmpak2llvmy_mondo_relaxed.owl trabecular artery owl:Class MONDO:0002701 biolink:NamedThing ovarian mucinous cystadenocarcinoma An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. tmpak2llvmy_mondo_relaxed.owl mucinous cystadenocarcinoma of the ovary|mucinous cystadenocarcinoma of ovary|ovary mucinous cystadenocarcinoma|ovarian mucinous cystadenocarcinoma NCIT:C4026|DOID:3604|UMLS:C0279665|SCTID:254851009|EFO:1001963 owl:Class MONDO:0009217 biolink:NamedThing Fanconi-like syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. tmpak2llvmy_mondo_relaxed.owl Fanconi-like syndrome OMIM:227850|MESH:C536855|SCTID:236469003|DOID:0090066|UMLS:C0151638 owl:Class MONDO:0021034 biolink:NamedThing genetic alopecia An instance of alopecia that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic alopecia Orphanet:481771 owl:Class UBERON:0003604 biolink:NamedThing trachea cartilage the ring-shaped cartilaginous structures that support the trachea tmpak2llvmy_mondo_relaxed.owl cartilaginous ring of trachea|cartilago trachealis|ring of the trachea|cartilage of windpipe|tracheal ring|trachea ring|cartilaginous trachea cartilage|tracheal cartilage|windpipe cartilage|cartilage of the trachea|cartilagines tracheales|cartilage of trachea owl:Class GO:0071753 biolink:NamedThing IgM immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019814 biolink:NamedThing immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl antibody owl:Class MONDO:0011325 biolink:NamedThing Fanconi anemia complementation group F Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type F|Fanconi Anemia, complementation group type F|Fanconi anemia complementation group F|FANCF|Fanconi anemia, complementation group F EFO:0009045|NCIT:C125707|OMIM:603467|DOID:0111088 owl:Class MONDO:0009121 biolink:NamedThing von Voss-Cherstvoy syndrome Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl von Voss-Cherstvoy syndrome|Von Voss Cherstvoy syndrome|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|phocomelia, thrombocytopenia, encephalocele, urogenital malformations|DK phocomelia syndrome ICD10:Q87.8|UMLS:C1857226|GARD:0001894|MESH:C565618|SCTID:719021005|Orphanet:3439|OMIM:223340 owl:Class GO:0044111 biolink:NamedThing formation of structure involved in a symbiotic process The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction. tmpak2llvmy_mondo_relaxed.owl development on or near surface of other organism during symbiotic interaction|development on or near surface of other organism involved in symbiotic interaction|development of symbiont involved in interaction with host|development involved in symbiotic interaction|development during symbiotic interaction|development of symbiont during interaction with host owl:Class MONDO:0009958 biolink:NamedThing adult Refsum disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. tmpak2llvmy_mondo_relaxed.owl phytanic acid oxidase deficiency|HSMN IV|adult Refsum disease due to PHYH|Refsum disease, classic|classic Refsum disease|hereditary motor and sensory neuropathy 4|disorder of cornification 11 (phytanic acid type)|RDPA|Refsum disease with increased pipecolic acidemia|Refsum disease|hereditary sensory and motor neuropathy type 4|phytanic-CoA hydroxylase deficiency|adult Refsum disease|Refsum's disease|hypertrophic neuropathy of Refsum|hereditary motor and sensory neuropathy type 4|Refsum disease, adult, 1|doc 11 (phytanic acid type)|HMSN type IV|heredopathia atactica polyneuritiformis|HMSN 4 ICD9:356.3|ICD9:272.8|MESH:C535517|OMIM:266500|ICD10:G60.1|OMIM:600964|GARD:0005691|MESH:D012035|Orphanet:773|UMLS:C1833022|MedDRA:10038275|GARD:0004371|SCTID:25362006|DOID:10582 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 https://rarediseases.info.nih.gov/diseases/5691/refsum-disease owl:Class MONDO:0100258 biolink:NamedThing phytanoyl-CoA hydroxylase deficiency Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene. tmpak2llvmy_mondo_relaxed.owl PHYH deficiency|PHYH related disorder of peroxisomal alpha oxidation|phytanoyl-CoA hydroxylase deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020740 biolink:NamedThing ectodermal dysplasia and immunodeficiency 1 tmpak2llvmy_mondo_relaxed.owl EDA-Id|HED-Id|ectodermal dysplasia, anhidrotic, with immune deficiency 1|ectodermal dysplasia, hypohidrotic, with immune deficiency 1|EDAID1 OMIM:300291 owl:Class MONDO:0010293 biolink:NamedThing ectodermal dysplasia and immune deficiency tmpak2llvmy_mondo_relaxed.owl HED-ID|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|hypohidrotic ectodermal dysplasia with immune deficiency|EDA-ID|ectodermal dysplasia, hypohidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immunodeficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|anhidrotic ectodermal dysplasia with immunodeficiency|ectodermal dysplasia, anhidrotic, with immune deficiency SCTID:703525006|OMIMPS:300291|MESH:C536181|Orphanet:98813|NCIT:C118844|UMLS:C1846006|ICD10:D82.8|GARD:0009936 owl:Class NCBITaxon:967 biolink:NamedThing Spirillum tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:19625415 ncbi_taxonomy owl:Class NCBITaxon:119068 biolink:NamedThing Spirillaceae tmpak2llvmy_mondo_relaxed.owl Spirillum group GC_ID:11 ncbi_taxonomy owl:Class UBERON:0002099 biolink:NamedThing cardiac septum The thin membranous structure between the two heart atria or the thick muscular structure between the two heart ventricles. tmpak2llvmy_mondo_relaxed.owl spiral septa|cardiac septa|heart septa|septum of heart|heart septum owl:Class MONDO:0018558 biolink:NamedThing syndrome with woolly hair tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:434809 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0011969 biolink:NamedThing ALG8-CDG A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. tmpak2llvmy_mondo_relaxed.owl CDG syndrome type Ih|congenital disorder of glycosylation type 1h|congenital disorder of glycosylation type Ih|CDG-Ih|CDG Ih|glucosyltransferase 2 deficiency|ALG8-CDG (CDG-Ih)|congenital disorder of glycosylation, type Ih|CDG1H|carbohydrate deficient glycoprotein syndrome type Ih|CDG 1H MESH:C535746|UMLS:C2931002|OMIM:608104|ICD10:E77.8|Orphanet:79325|DOID:0080560|GARD:0009834|SCTID:720977000 owl:Class MONDO:0008056 biolink:NamedThing myotonic dystrophy type 1 Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. tmpak2llvmy_mondo_relaxed.owl DM1|dystrophia myotonica 1|Steinert syndrome|DMPK myotonic dystrophy|myotonic dystrophy of Steinert|myotonic dystrophy 1|Steinert myotonic dystrophy|dystrophia myotonica|Steinert myotonic dystrophy syndrome|Steinert disease|Steinert's disease|MD1|myotonic dystrophy caused by mutation in DMPK|myotonic dystrophy type 1|dystrophia myotonica type 1 ICD10:G71.11|NCIT:C84679|Orphanet:273|DOID:11722|GARD:0008310|ICD10:G71.1|ICD9:359.21|OMIM:160900 owl:Class MONDO:0020232 biolink:NamedThing musculoskeletal disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98648|UMLS:CN207060 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: musculoskeletal system disease' MONDO_0002081 owl:Class UBERON:0000948 biolink:NamedThing heart A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. tmpak2llvmy_mondo_relaxed.owl cardium|chambered heart|branchial heart|vertebrate heart owl:Class MONDO:0001574 biolink:NamedThing capillary disease A disease involving a capillary. tmpak2llvmy_mondo_relaxed.owl disease of capillaries|disease or disorder of capillary|disorder of capillary|capillary disease|disease of capillary|capillary disease or disorder DOID:1271|UMLS:C0155765|ICD10:I78|SCTID:58729003|ICD9:448|ICD9:448.9|ICD10:I78.9 owl:Class GO:0048858 biolink:NamedThing cell projection morphogenesis The process in which the anatomical structures of a cell projection are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000902 biolink:NamedThing cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized. tmpak2llvmy_mondo_relaxed.owl cellular morphogenesis owl:Class MONDO:0014373 biolink:NamedThing nephrotic syndrome, type 10 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. tmpak2llvmy_mondo_relaxed.owl EMP2 nephrotic syndrome|nephrotic syndrome, type 10|NPHS10|nephrotic syndrome caused by mutation in EMP2 OMIM:615861|UMLS:C4014507|DOID:0080386 owl:Class HGNC:3334 biolink:NamedThing EMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009749 biolink:NamedThing limb mesenchyme The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. tmpak2llvmy_mondo_relaxed.owl limb mesoderm owl:Class GO:0035295 biolink:NamedThing tube development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006261 biolink:NamedThing male genital tubercle A differentiated genital tubercle that is part of a male reproductive system. tmpak2llvmy_mondo_relaxed.owl genital tubercle of male|penis anlage owl:Class MONDO:0010521 biolink:NamedThing amelogenesis imperfecta type 1E Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene. tmpak2llvmy_mondo_relaxed.owl AIH1|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|enamel hypoplasia X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|enamel hypoplasia, X-linked|amelogenesis imperfecta caused by mutation in AMELX|AI1E|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|amelogenesis imperfecta, X-linked 1|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|amelogenesis imperfecta X-linked 1|amelogenesis imperfecta, type 1E|amelogenesis imperfecta type IE|X-linked enamel hypoplasia|X-linked amelogenesis imperfecta 1|amelogenesis imperfecta, type IE|AMELX amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 DOID:0110058|OMIM:301200|ICD10:K00.5|GARD:0009943 Editor note: https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1 owl:Class UBERON:0001144 biolink:NamedThing testicular vein A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis. tmpak2llvmy_mondo_relaxed.owl spermatic vein|venae spermaticae|vein of testicle|vena testicularis sinistra|vena testicularis dextra|testicle vein|vena tesicularis|testicular venous tree|male gonadal vein owl:Class HP:0009125 biolink:NamedThing Lipodystrophy Degenerative changes of the fat tissue. tmpak2llvmy_mondo_relaxed.owl Inability to make and keep healthy fat tissue SNOMEDCT_US:71325002|MSH:D008060|UMLS:C0023787 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0011424 biolink:NamedThing Carney triad Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. tmpak2llvmy_mondo_relaxed.owl Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma ICD10:D44.8|SCTID:733492003|NCIT:C94833|MESH:C565803|GARD:0010924|OMIM:604287|Orphanet:139411|UMLS:C1858592 https://rarediseases.info.nih.gov/diseases/10924/carney-triad owl:Class UBERON:0001956 biolink:NamedThing cartilage of bronchus The hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles[MP]. tmpak2llvmy_mondo_relaxed.owl bronchial trunk cartilage|bronchi cartilage|bronchial cartilage ring|bronchial cartilage|cartilage of bronchial trunk|cartilagines bronchiales|bronchus cartilage|cartilage of bronchi owl:Class NCBITaxon:5806 biolink:NamedThing Cryptosporidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000071 biolink:NamedThing death stage End of the life of an organism. tmpak2llvmy_mondo_relaxed.owl death owl:Class UBERON:0002107 biolink:NamedThing liver An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. tmpak2llvmy_mondo_relaxed.owl jecur|iecur owl:Class UBERON:0006661 biolink:NamedThing epicranial aponeurosis The galea aponeurotica (epicranial aponeurosis, aponeurosis epicranialis) is a tough layer of dense fibrous tissue which covers the upper part of the cranium; behind, it is attached, in the interval between its union with the Occipitales, to the external occipital protuberance and highest nuchal lines of the occipital bone; in front, it forms a short and narrow prolongation between its union with the Frontales. On either side it gives origin to the Auriculares anterior and superior; in this situation it loses its aponeurotic character, and is continued over the temporal fascia to the zygomatic arch as a layer of laminated areolar tissue. It is closely connected to the integument by the firm, dense, fibro-fatty layer which forms the superficial fascia of the scalp: it is attached to the pericranium by loose cellular tissue, which allows the aponeurosis, carrying with it the integument to move through a considerable distance. tmpak2llvmy_mondo_relaxed.owl galea aponeurotica; aponeurosis epicranialis|galea aponeurotica|aponeurosis epicranialis|galea aponeurosis|cranial aponeurosis|epicranial aponeurosis|aponeurosis of epicranius|galeal aponeurosis|epicranius aponeurosis owl:Class UBERON:0000403 biolink:NamedThing scalp The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendonous galea aponeurotica; Loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL). tmpak2llvmy_mondo_relaxed.owl scalpus owl:Class MONDO:0010046 biolink:NamedThing hereditary spastic paraplegia 23 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. tmpak2llvmy_mondo_relaxed.owl DSTYK autosomal recessive complex spastic paraplegia|SPG23|spastic paraplegia and pigmentary abnormalities|Lison syndrome|SPG 23|spastic paraplegia with pigmentary abnormalities|hereditary spastic paraplegia type 23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia 23|spastic paraplegia vitiligo premature graying and characteristic facies|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|autosomal recessive spastic paraplegia type 23 DOID:0110774|UMLS:C0796019|ICD10:G11.4|MESH:C536859|SCTID:726608002|GARD:0000336|Orphanet:101003|OMIM:270750 owl:Class HGNC:29043 biolink:NamedThing DSTYK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013732 biolink:NamedThing glucocorticoid therapy, response to tmpak2llvmy_mondo_relaxed.owl GCTR|glucocorticoid therapy, response to OMIM:614400 owl:Class HGNC:18713 biolink:NamedThing GLCCI1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001003 biolink:NamedThing skin epidermis The outer epithelial layer of the skin that is superficial to the dermis. tmpak2llvmy_mondo_relaxed.owl vertebrate epidermis|skin|epidermis owl:Class MONDO:0024459 biolink:NamedThing Aeromonas hydrophila intestinal disease tmpak2llvmy_mondo_relaxed.owl intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila SCTID:446988001|UMLS:C2960005|ICD9:008.47 owl:Class NCBITaxon:644 biolink:NamedThing Aeromonas hydrophila tmpak2llvmy_mondo_relaxed.owl Proteus hydrophilus|Aeromonas liquefaciens|Bacterium hydrophilum|Aeromonas dourgesi|Proteus ichthyosmius|Pseudomonas hydrophila|Bacillus hydrophilus fuscus|Bacillus hydrophilus PMID:19965992|PMID:23485124|PMID:16560691|GC_ID:11|PMID:932684 NCBITaxon:582287|NCBITaxon:582225|NCBITaxon:582322|NCBITaxon:582321|NCBITaxon:582306|NCBITaxon:582291|NCBITaxon:582318|NCBITaxon:582228|NCBITaxon:329135|NCBITaxon:582221|NCBITaxon:582303|NCBITaxon:582319|NCBITaxon:582240|NCBITaxon:582290|NCBITaxon:582224|NCBITaxon:582265|NCBITaxon:582214|NCBITaxon:582304|NCBITaxon:582300|NCBITaxon:582320|NCBITaxon:582198|NCBITaxon:582311|NCBITaxon:582196|NCBITaxon:582297|NCBITaxon:582313|NCBITaxon:582317|NCBITaxon:582254|NCBITaxon:582231|NCBITaxon:582309|NCBITaxon:582251|NCBITaxon:582299|NCBITaxon:329140|NCBITaxon:582217|NCBITaxon:582218|NCBITaxon:346633|NCBITaxon:582316|NCBITaxon:582305|NCBITaxon:582215|NCBITaxon:98358|NCBITaxon:582289|NCBITaxon:582282|NCBITaxon:582302|NCBITaxon:582310|NCBITaxon:582323|NCBITaxon:582324|NCBITaxon:582307|NCBITaxon:582253|NCBITaxon:582219|NCBITaxon:582237|NCBITaxon:582267|NCBITaxon:582312|NCBITaxon:582315|NCBITaxon:1471787|NCBITaxon:582266|NCBITaxon:582250|NCBITaxon:582216|NCBITaxon:582226|NCBITaxon:582223|NCBITaxon:582295|NCBITaxon:582314|NCBITaxon:582220|NCBITaxon:582236|NCBITaxon:582279|NCBITaxon:346634|NCBITaxon:582286|NCBITaxon:582284|NCBITaxon:582292|NCBITaxon:582308|NCBITaxon:582222|NCBITaxon:582229|NCBITaxon:1471788 ncbi_taxonomy owl:Class UBERON:0002165 biolink:NamedThing endocardium The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. tmpak2llvmy_mondo_relaxed.owl heart endocardium|endocardial tissue|heart endocardial tissue|endocardial lining owl:Class HsapDv:0000100 biolink:NamedThing 6-year-old human stage Child stage that refers to a child who is over 6 and under 7 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000099 biolink:NamedThing 5-year-old human stage Child stage that refers to a child who is over 5 and under 6 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:47 biolink:NamedThing ABCB6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005269 biolink:NamedThing renal cortex vein Artery that receives blood from the renal cortex[MP, modified] tmpak2llvmy_mondo_relaxed.owl kidney cortex vein|renal cortex venous system owl:Class GO:0043229 biolink:NamedThing intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005622 biolink:NamedThing intracellular anatomical structure A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. tmpak2llvmy_mondo_relaxed.owl intracellular|nucleocytoplasm|protoplasm|protoplast|internal to cell owl:Class UBERON:0000088 biolink:NamedThing trophoblast the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta tmpak2llvmy_mondo_relaxed.owl massa cellularis externa|trophoblast layer|trophoderm|trophoblastus owl:Class UBERON:0000358 biolink:NamedThing blastocyst The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. tmpak2llvmy_mondo_relaxed.owl blastocystis|blastula owl:Class UBERON:0010703 biolink:NamedThing forelimb zeugopod skeleton The collection of all skeletal elements in an forelimb zeugopod region. tmpak2llvmy_mondo_relaxed.owl forelimb epipodium|fore epipodium|mesomere 2 of pectoral appendage|skeleton of forearm|wing zeugopod skeleton|antebrachial skeleton|anterior zeugopodium|anterior zeugopodium skeleton|forearm skeleton|radius and ulna|fore epipodium skeleton|forelimb epipodium skeleton|antebrachium skeleton owl:Class UBERON:0001862 biolink:NamedThing vestibular labyrinth The part of the membranous labyrinth that includes the utricle and saccule lodged within the vestibule and the semicircular ducts lodged eccentrically in the corresponding canals. tmpak2llvmy_mondo_relaxed.owl labyrinthus vestibularis|inner ear vestibular component|vestibular apparatus|vestibular component owl:Class UBERON:0004708 biolink:NamedThing paired limb/fin An appendage that is part of an appendage girdle complex. tmpak2llvmy_mondo_relaxed.owl pelvic/pectoral appendage|limb/fin|limb or fin|jointed paired lateral appendage|paired appendage|girdle-associated appendage|pectoral or pelvic appendage owl:Class UBERON:0001870 biolink:NamedThing frontal cortex Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified]. tmpak2llvmy_mondo_relaxed.owl gray matter of frontal lobe|frontal neocortex|grey matter of frontal lobe|frontal lobe cortex|cortex of frontal lobe owl:Class OBO:CHR_9606-chr2q22 biolink:NamedThing chr2q22 (Human) tmpak2llvmy_mondo_relaxed.owl 147900000 136100000 hg38 owl:Class OBO:CHR_9606-chr2q2 biolink:NamedThing chr2q2 (Human) tmpak2llvmy_mondo_relaxed.owl 168900000 129100000 hg38 owl:Class HGNC:14258 biolink:NamedThing CD2AP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014809 biolink:NamedThing DDX41-related hematologic malignancy predisposition syndrome Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. tmpak2llvmy_mondo_relaxed.owl MPLPF|DDX41-related hematologic malignancy predisposition syndrome|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to|DDX41 hereditary neoplastic syndrome|hereditary neoplastic syndrome caused by mutation in DDX41|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms Orphanet:488647|OMIM:616871 owl:Class MONDO:0006311 biolink:NamedThing myelodysplastic/myeloproliferative Neoplasm A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. tmpak2llvmy_mondo_relaxed.owl MPD-MDS|myeloproliferative/myelodysplastic disorders|myelodysplastic/myeloproliferative Neoplasm|myelodysplastic/myeloproliferative neoplasms|MPD/MDS|myelodysplastic/myeloproliferative disorders|MDS/MPD|myelodysplastic/myeloproliferative diseases|myelodysplastic/myeloproliferative disorder|MDS-MPD|MDS/MPN|myelodysplastic/myeloproliferative disease|myeloproliferative/myelodysplastic syndromes|myelodysplastic myeloproliferative cancer|myelodysplastic myeloproliferative disease ONCOTREE:MDS%2FMPN|NCIT:C27262|ICDO:9975/3|DOID:4972|SCTID:445738007|EFO:1000388 owl:Class UBERON:0007122 biolink:NamedThing pharyngeal pouch 1 A pharyngeal pouch that is between pharyngeal arches 1 and 2. tmpak2llvmy_mondo_relaxed.owl first pharyngeal pouch|1st arch pouch endoderm|hyomandibular pouch|pharyngeal pouches 1|1st branchial pouch|1st pharyngeal pouch endoderm|first arch pharyngeal pouch|1st arch branchial pouch endoderm|first visceral pouch|visceral pouch 1|1st arch branchial pouch owl:Class MONDO:0043707 biolink:NamedThing mediastinal disease A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. tmpak2llvmy_mondo_relaxed.owl diseases, mediastinal|disease, mediastinal|mediastinum disease|mediastinum disease or disorder|disease or disorder of mediastinum|disease of mediastinum|mediastinal disorder|disorder of mediastinum|mediastinal disease MESH:D008477|UMLS:C0025061|NCIT:C26826|SCTID:49483002 owl:Class UBERON:0003728 biolink:NamedThing mediastinum The central part of the thoracic cavity enclosed by the left and right pleurae. tmpak2llvmy_mondo_relaxed.owl mediastinal part of chest owl:Class HsapDv:0000101 biolink:NamedThing 7-year-old human stage Child stage that refers to a child who is over 7 and under 8 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014041 biolink:NamedThing autism, susceptibility to, 19 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 19|susceptibility to autism 19|autism, susceptibility to, type 19|AUTS19 OMIM:615091 Not listed in the OMIM series but the page directs you to 209850 for the full details. owl:Class HGNC:3287 biolink:NamedThing EIF4E tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001748 biolink:NamedThing capsule of parathyroid gland The dense and irregular connective tissue capsule surrounding a parathyroid gland. tmpak2llvmy_mondo_relaxed.owl parathyroid gland capsule owl:Class UBERON:0001132 biolink:NamedThing parathyroid gland The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. tmpak2llvmy_mondo_relaxed.owl parathyroid|parathyroid secreting cell|epithelial body owl:Class UBERON:0004702 biolink:NamedThing respiratory system blood vessel endothelium A blood vessel endothelium that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001004 biolink:NamedThing respiratory system Functional system which consists of structures involved in respiration. tmpak2llvmy_mondo_relaxed.owl respiratory system|Atmungssystem|systema respiratorium|apparatus respiratorius owl:Class HsapDv:0000106 biolink:NamedThing 12-year-old human stage Child stage that refers to a child who is over 12 and under 13 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010674 biolink:NamedThing mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. tmpak2llvmy_mondo_relaxed.owl severe MPS II|MPSII|Hunter's syndrome|MPS II - Hunter syndrome|mucopolysaccharidosis, type II|deficiency of iduronate-2-sulphatase|attenuated MPS (subtype; formerly known as mild MPS II)|mucopolysaccharidosis, type 2|Hunter syndrome|sulfoiduronate sulfatase deficiency|I2S deficiency|mucopolysaccharidosis type 2|mucopolysaccharidosis, MPS-II|Sids deficiency|MPS 2|MPS2|Ids deficiency|MPS II|mucopolysaccharidosis type II|iduronate 2-sulfatase deficiency|mucopolysaccharidosis II DOID:12799|GARD:0006675|UMLS:C0026705|MedDRA:10056889|Orphanet:580|NCIT:C61260|SCTID:70737009|ICD10:E76.1|MESH:D016532|OMIM:309900 owl:Class HGNC:5389 biolink:NamedThing IDS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001795 biolink:NamedThing inner plexiform layer of retina Cytoarchitectural layer of the retina that is made up of a dense reticulum of fibrils formed by interlaced dendrites of retinal ganglion cells and cells of the inner nuclear layer (adapted from Wikipedia) tmpak2llvmy_mondo_relaxed.owl retina inner plexiform layer|stratum plexifome internum|IPL|retina, inner plexiform layer|stratum plexiforme internum|retinal inner plexiform layer|retinal internal plexiform layer|inner plexiform layer|internal plexiform layer of retina|stratum plexiforme internum retinae owl:Class UBERON:0001791 biolink:NamedThing inner nuclear layer of retina Cytoarchitectural layer of retina containing closely packed cell bodies, the majority of which are bipolar cells (adapted from Wikipedia). tmpak2llvmy_mondo_relaxed.owl retinal inner nuclear layer|neural retina inner nuclear layer|layer of inner granules|intermediate cell layer|retina inner nuclear layer|retina, inner nuclear layer|inner nuclear layer|stratum nucleare internum retinae|INL|stratum nucleare internum owl:Class MONDO:0012497 biolink:NamedThing congenital stationary night blindness autosomal dominant 3 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. tmpak2llvmy_mondo_relaxed.owl night blindness, congenital stationary, autosomal dominant 3|congenital stationary night blindness autosomal dominant type 3|night blindness, congenital stationary, Nougaret type|night blindness, congenital stationary, autosomal dominant type 3|CSNBAD3|Nougaret type congenital stationary night blindness MESH:C566475|OMIM:610444|UMLS:C1864870|DOID:0110715 owl:Class HP:0000006 biolink:NamedThing Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. tmpak2llvmy_mondo_relaxed.owl Autosomal dominant type|Autosomal dominant|Autosomal dominant form SNOMEDCT_US:263681008|UMLS:C0443147 HP:0001455|HP:0001447|HP:0001463|HP:0001415|HP:0001451|HP:0001456|HP:0001448 human_phenotype owl:Class UBERON:0003257 biolink:NamedThing yolk sac endoderm The portion of the yolk sac that is derived from endoderm and lines the yolk sac. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001040 biolink:NamedThing yolk sac A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP]. tmpak2llvmy_mondo_relaxed.owl saccus vitellinus|vesicula umbilicalis owl:Class MONDO:0012409 biolink:NamedThing isolated microphthalmia 2 Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. tmpak2llvmy_mondo_relaxed.owl isolated microphthalmia type 2|microphthalmia, isolated type 2|anophthalmia, clinical, isolated|MCOP2|microphthalmia, isolated 2|isolated microphthalmia caused by mutation in VSX2|VSX2 isolated microphthalmia MESH:C566446|OMIM:610093|DOID:0060839|UMLS:C1864720|ICD10:Q11.0 owl:Class HGNC:1975 biolink:NamedThing VSX2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001778 biolink:NamedThing ciliary epithelium A double layer covering the ciliary body that produces aqueous humor. tmpak2llvmy_mondo_relaxed.owl ciliary body epithelium|ocular ciliary epithelium|epithelium of ciliary body owl:Class UBERON:0001796 biolink:NamedThing aqueous humor of eyeball A thick watery refractive medium that fills the space between the lens and the cornea[WP]. tmpak2llvmy_mondo_relaxed.owl aqueous humour|humor aquosus|aqueous humor owl:Class UBERON:0001640 biolink:NamedThing celiac artery The first major branch of the abdominal aorta. tmpak2llvmy_mondo_relaxed.owl truncus coeliacus|arteria cœliaca|celiac trunk|truncus cœliacus|arteria coeliaca|coeliac trunk|celiac tree|coeliac trunck|coeliac artery|coeliac axis owl:Class UBERON:0000160 biolink:NamedThing intestine Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. tmpak2llvmy_mondo_relaxed.owl bowel|intestinal tract owl:Class HP:0000027 biolink:NamedThing Azoospermia Absence of any measurable level of sperm in his semen. tmpak2llvmy_mondo_relaxed.owl Absent sperm in semen UMLS:C0004509|SNOMEDCT_US:48188009|MSH:D053713|SNOMEDCT_US:425558002 human_phenotype owl:Class CL:0002191 biolink:NamedThing granulocytopoietic cell A cell involved in the formation of a granulocyte. tmpak2llvmy_mondo_relaxed.owl FMA:83519 tmeehan 2010-08-30T12:54:27Z cell owl:Class MONDO:0018181 biolink:NamedThing staphylococcal scalded skin syndrome A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. tmpak2llvmy_mondo_relaxed.owl staphylococcal scalded skin syndrome|pemphigus neonatorum|generalized exfoliative disease|SSSS|scalded skin syndrome|dermatitis exfoliativa neonatorum|toxic epidermal necrolysis, subcorneal type|Ritter disease|Ritter's disease ICD9:695.81|DOID:9063|Orphanet:36236|SCTID:200946001|ICD10:L00|MedDRA:10041929|SCTID:277475006|UMLS:C0678185|NCIT:C85077|EFO:0007473|MESH:D013206|UMLS:C0038165 owl:Class UBERON:0006925 biolink:NamedThing digestive system gland Any gland that is part of the digestive system. tmpak2llvmy_mondo_relaxed.owl digestive gland owl:Class UBERON:0001007 biolink:NamedThing digestive system Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. tmpak2llvmy_mondo_relaxed.owl gastrointestinal system|gut|alimentary system|alimentary tract owl:Class MONDO:0011857 biolink:NamedThing atrial fibrillation, familial, 3 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene. tmpak2llvmy_mondo_relaxed.owl atrial fibrillation, familial, 3|atrial fibrillation, familial, type 3|familial atrial fibrillation caused by mutation in KCNQ1|KCNQ1 familial atrial fibrillation|ATFB3 MESH:C563817|UMLS:C1837014|OMIM:607554 owl:Class HGNC:6294 biolink:NamedThing KCNQ1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003822 biolink:NamedThing forelimb stylopod The part of the forelimb between pectoral region and the elbow, corresponding to the humerus. tmpak2llvmy_mondo_relaxed.owl brachium|stylopod of forelimb|regio brachialis|fore propodium|forelimb stylopodial element|arm|stylopod of arm|upper arm|brachial region|forelimb stylopodium|forelimb propodium|wing stylopod|proximal segment of free upper limb owl:Class MONDO:0013739 biolink:NamedThing chilblain lupus 2 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. tmpak2llvmy_mondo_relaxed.owl chilblain lupus 2|chilblain lupus caused by mutation in SAMHD1|SAMHD1 chilblain lupus|CHBL2|Chilblain lupus type 2 OMIM:614415|UMLS:C3280721 owl:Class HGNC:15925 biolink:NamedThing SAMHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16732 biolink:NamedThing MCEE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016888 biolink:NamedThing partial deletion of the short arm of chromosome 6 tmpak2llvmy_mondo_relaxed.owl partial deletion of the short arm of chromosome type 6|partial deletion of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial monosomy of chromosome 6p Orphanet:261902|ICD10:Q93.5 owl:Class OBO:CHR_9606-chr6p biolink:NamedThing chr6p (Human) tmpak2llvmy_mondo_relaxed.owl 59800000 0 hg38 owl:Class UBERON:0007239 biolink:NamedThing tunica media of artery A tunica media that is part of a artery. tmpak2llvmy_mondo_relaxed.owl arterial media|tunica media (arteriae) owl:Class UBERON:0003041 biolink:NamedThing trigeminal nerve fibers A nerve fiber that is part of a trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl central part of trigeminal nerve|trigeminal nerve fibers|fibrae nervi trigemini|trigeminal nerve tract owl:Class GO:0005975 biolink:NamedThing carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. tmpak2llvmy_mondo_relaxed.owl single-organism carbohydrate metabolic process|multicellular organismal carbohydrate metabolic process|carbohydrate metabolism owl:Class MONDO:0021136 biolink:NamedThing rare A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. tmpak2llvmy_mondo_relaxed.owl rare (European definition) owl:Class OBO:CHR_9606-chr8q1 biolink:NamedThing chr8q1 (Human) tmpak2llvmy_mondo_relaxed.owl 72000000 45200000 hg38 owl:Class NCBITaxon:9606 biolink:NamedThing Homo sapiens tmpak2llvmy_mondo_relaxed.owl human|man GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005988 biolink:NamedThing toxocariasis A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. tmpak2llvmy_mondo_relaxed.owl Toxocara caused disease or disorder|Toxocara disease or disorder|Toxocara infection|visceral larva migrans|infection by Toxascaris|Toxocara infectious disease MedDRA:10044269|DOID:9790|ICD9:128.0|NCIT:C34758|ICD10:B83.0|SCTID:406619001|Orphanet:3343|UMLS:C0040553|MESH:D014120|EFO:0007516|GARD:0007788 owl:Class UBERON:0004667 biolink:NamedThing interventricular septum muscular part The muscular portion of the wall between the two lower chambers of the heart tmpak2llvmy_mondo_relaxed.owl muscular part interventricular septum|muscular interventricular septum|muscular septum|muscular part of interventricular septum|septum membranaceum|pars muscularis (septi interventricularis)|ventricular muscular septum|pars muscularis septi interventricularis|cardiac ventricular muscular septum owl:Class UBERON:0002094 biolink:NamedThing interventricular septum Cardiac septum which separates the right ventricle from the left ventricle.[FMA] tmpak2llvmy_mondo_relaxed.owl s. interventriculare cordis|interventriculare cordis|septum membranaceum|septum inferius|ventricle septum|intraventricular septum|heart interventricular septum|interventricular septum of heart|ventricular septum|heart ventricular septum owl:Class MONDO:0021240 biolink:NamedThing tongue neoplasm A neoplasm (disease) that involves the tongue. tmpak2llvmy_mondo_relaxed.owl neoplasm of tongue|tumor of the tongue|neoplasm of the tongue|tongue neoplasm (disease)|tongue tumor|tumor of tongue NCIT:C3416|SCTID:126778001|EFO:0003871 owl:Class UBERON:0001723 biolink:NamedThing tongue A muscular organ in the floor of the mouth. tmpak2llvmy_mondo_relaxed.owl glossus owl:Class CL:0002021 biolink:NamedThing GlyA-positive erythrocyte An enucleate erythrocyte that is GlyA-positive. tmpak2llvmy_mondo_relaxed.owl Marker is associated with human cell types. tmeehan 2010-04-26T11:51:22Z cell owl:Class CL:0002020 biolink:NamedThing GlyA-positive reticulocytes A reticulocyte that is GlyA-positive. tmpak2llvmy_mondo_relaxed.owl Markers is associated with human cells. tmeehan 2010-04-26T11:48:25Z cell owl:Class UBERON:0016435 biolink:NamedThing chest wall Subdivision of thorax which includes all structures from the skin to the costal pleura. Examples: There is only one chest wall. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012980 biolink:NamedThing endocrine-cerebro-osteodysplasia syndrome Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. tmpak2llvmy_mondo_relaxed.owl ECO syndrome|ECO|endocrine-CEREBROOSTEODYSPLASIA SCTID:723309006|DOID:0060641|MESH:C567210|UMLS:C4509819|OMIM:612651|UMLS:C2675227|Orphanet:199332|ICD10:Q87.8 owl:Class UBERON:0011932 biolink:NamedThing pilosebaceous unit An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle tmpak2llvmy_mondo_relaxed.owl pilosebaceous gland|pilo-sebaceous apparatus|pilo-sebaceous unit|fabrica pilosebacea|pilosebaceous apparatus owl:Class UBERON:0002073 biolink:NamedThing hair follicle A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. tmpak2llvmy_mondo_relaxed.owl folliculus pili owl:Class UBERON:0000966 biolink:NamedThing retina The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpak2llvmy_mondo_relaxed.owl retina of camera-type eye|inner layer of eyeball|Netzhaut|retinas|tunica interna of eyeball owl:Class CL:0000573 biolink:NamedThing retinal cone cell One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0866|FMA:67748|BTO:0001036 cell owl:Class GO:0070253 biolink:NamedThing somatostatin secretion The regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045051 biolink:NamedThing cortical cataract A cataract (disease) that involves the lens cortex. tmpak2llvmy_mondo_relaxed.owl cataract (disease) of lens cortex|lens cortex cataract (disease) SCTID:193576003|ICD9:366.03 owl:Class UBERON:0000389 biolink:NamedThing lens cortex Tissue that surrounds the lens nucleus tmpak2llvmy_mondo_relaxed.owl cortex of lens owl:Class MONDO:0005789 biolink:NamedThing hepatitis D virus infection Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. tmpak2llvmy_mondo_relaxed.owl delta hepatitis|Hepatitis delta virus hepatitis|Hepatitis delta virus caused hepatitis|hepatitis type D|hepatitis delta|Hepatitis D virus|HDV MESH:D003699|EFO:0007304|ICD9:070.52|Orphanet:402823|SCTID:707341005|ICD10:B17.0|DOID:2047 owl:Class UBERON:0003126 biolink:NamedThing trachea The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. tmpak2llvmy_mondo_relaxed.owl windpipe|tracheal tubule|vertebrate trachea|cartilaginous trachea owl:Class MONDO:0012522 biolink:NamedThing diabetes mellitus, transient neonatal, 3 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. tmpak2llvmy_mondo_relaxed.owl transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|diabetes mellitus, transient neonatal, type 3|Tndm3|diabetes mellitus, transient neonatal, 3|KCNJ11 transient neonatal diabetes mellitus (disease)|diabetes mellitus, type II, autosomal dominant OMIM:610582|SCTID:609581006 owl:Class HGNC:6257 biolink:NamedThing KCNJ11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013685 biolink:NamedThing pancreatic cancer, susceptibility to, 4 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene. tmpak2llvmy_mondo_relaxed.owl pancreatic cancer, susceptibility to, type 4|BRCA1 familial pancreatic carcinoma|susceptibility to pancreatic cancer 4|familial pancreatic carcinoma caused by mutation in BRCA1|pancreatic cancer, susceptibility to, 4|PNCA4 OMIM:614320 owl:Class MONDO:0016126 biolink:NamedThing viral myositis tmpak2llvmy_mondo_relaxed.owl ICD9:729.1|SCTID:240105009|UMLS:C0150005|ICD10:M60.0|Orphanet:206991|MedDRA:10051512 owl:Class NCBITaxon:10239 biolink:NamedThing Viruses tmpak2llvmy_mondo_relaxed.owl Viridae|Vira|viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0051276 biolink:NamedThing chromosome organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. tmpak2llvmy_mondo_relaxed.owl chromosome organization and biogenesis|maintenance of genome integrity|chromosome organisation|nuclear genome maintenance owl:Class UBERON:0002125 biolink:NamedThing thymus lobule A lobule that is part of a thymus. Divided into an outer cortex and inner medulla and separated from each other by connective tissue septa, but with the medullary tissue continuous from lobule to lobule.[ncit,modified]. tmpak2llvmy_mondo_relaxed.owl thymic lobule|thymus lobule|lobule of thymus owl:Class MONDO:0000595 biolink:NamedThing sexual and gender identity disorders A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle. tmpak2llvmy_mondo_relaxed.owl sexual disorder SCTID:231532002|DOID:0060043|NCIT:C92202 owl:Class NBO:0000034 biolink:NamedThing sexual activity "Behaviour related to the activity which primary purpose is the sexual reproduction." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl sexual actions owl:Class UBERON:0006849 biolink:NamedThing scapula Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage. tmpak2llvmy_mondo_relaxed.owl scapulae|scapula bone|shoulder blade|scapulas owl:Class UBERON:0015129 biolink:NamedThing epicardial fat Visceral intrapericardial fat contiguous with the myocardial surface. tmpak2llvmy_mondo_relaxed.owl epicardial adipose tissue|pericardial adipose tissue owl:Class MONDO:0011346 biolink:NamedThing xanthinuria type II Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. tmpak2llvmy_mondo_relaxed.owl xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|type II xanthinuria|xanthinuria, type II|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|type 2 xanthinuria|XAN2|XDH and AOX dual deficiency|xanthinuria type 2|xanthinuria, type 2 GARD:0005620|MESH:C566358|ICD10:E79.8|OMIM:603592|Orphanet:93602|UMLS:C1863688 https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 owl:Class HGNC:18234 biolink:NamedThing MOCOS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007508 biolink:NamedThing Rapp-Hodgkin syndrome A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. tmpak2llvmy_mondo_relaxed.owl Rapp-Hodgkin syndrome|cleft lip with or without cleft palate, nonsyndromic, 8|anhidrotic ectodermal dysplasia with cleft lip/palate|Rapp-Hodgkin ectodermal dysplasia syndrome|RHS|orofacial cleft 8|ectodermal dysplasia, anhidrotic, with cleft lip-palate|OFC8, included|ectodermal dysplasia, anhidrotic, with cleft Lip/palate OMIM:129400|UMLS:CN203427|DOID:0060330|MESH:C535289|Orphanet:3022|SCTID:7731005|GARD:0005690 Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome owl:Class HGNC:15979 biolink:NamedThing TP63 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002389 biolink:NamedThing manual digit A digit that is part of a manus (hand). tmpak2llvmy_mondo_relaxed.owl forelimb digit|digit of hand|hand digit|finger|manual digit (phalangeal portion) plus soft tissue|digit of manus|fore digit|digitus manus owl:Class GO:0002233 biolink:NamedThing leukocyte chemotaxis involved in immune response The movement of an immune cell in response to an external stimulus a part of an immune response. tmpak2llvmy_mondo_relaxed.owl immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response owl:Class HGNC:1097 biolink:NamedThing BRAF tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33721 biolink:NamedThing carbohydrate acid anion tmpak2llvmy_mondo_relaxed.owl carbohydrate acid anions|carbohydrate acid anion owl:Class UBERON:0012336 biolink:NamedThing perianal skin A zone of skin that is part of the area surrounding the anus. tmpak2llvmy_mondo_relaxed.owl skin of perianal area owl:Class CL:0000961 biolink:NamedThing Bm1 B cell A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells. tmpak2llvmy_mondo_relaxed.owl Bm1 B lymphocyte|Bm1 B-lymphocyte|Bm1 B-cell These cells are also reportedly CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class UBERON:0035551 biolink:NamedThing deep vasculature The part of the circulatory system that lies deep beneath the subcutaneous tissue layers away from the surface of the skin. tmpak2llvmy_mondo_relaxed.owl deep part of circulatory system owl:Class UBERON:0002199 biolink:NamedThing integument The dermis, epidermis and hypodermis. tmpak2llvmy_mondo_relaxed.owl dermal system|integumentum commune|vertebrate integument|skin and subcutaneous tissue|tegument|dermoid system|the integument|skin plus hypodermis|dermis plus epidermis plus hypodermis|skin owl:Class HGNC:4393 biolink:NamedThing GNAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010688 biolink:NamedThing skeleton of manual acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the manual autopodium - i.e. the bones of the hands or their cartilaginous precursors[VSAO,modified]. tmpak2llvmy_mondo_relaxed.owl phalanges of manus|anterior acropodium|set of phalanges of hand|all phalanges in forelimb autopod|manual phalanges|set of manual phalanges|anterior acropodium skeleton|set of phalanges of manus|fore acropodium skeleton|hand digit skeleton|phalanges of hand|manual digit skeleton owl:Class ECTO:4000033 biolink:NamedThing exposure to decreased water pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in pressure of water owl:Class Nb13bfc796f8947a9a641355c09b874ba biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019359 biolink:NamedThing Rocky mountain spotted fever Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). tmpak2llvmy_mondo_relaxed.owl exanthematic typhus of sao Paulo|Fiebre maculosa|So Paulo fever|Brazillian spotted|sao Paulo typhus|Fiebre manchada|RMSF|Tobia fever|Tick typhus|Choix MESH:D012373|ICD10:A77.0|GARD:0007585|SCTID:186772009|MedDRA:10039207|NCIT:C128410|DOID:0050052|UMLS:C0035793|Orphanet:83311 https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever owl:Class NCBITaxon:34620 biolink:NamedThing Dermacentor andersoni tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0047598 biolink:NamedThing 7-dehydrocholesterol reductase activity Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. tmpak2llvmy_mondo_relaxed.owl sterol delta7-reductase activity|cholesterol:NADP+ delta7-oxidoreductase activity|sterol Delta(7)-reductase activity|7-DHC reductase activity owl:Class UBERON:0006544 biolink:NamedThing kidney vasculature A vasculature that is part of a kidney. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008519 biolink:NamedThing multiple synostoses syndrome 1 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene. tmpak2llvmy_mondo_relaxed.owl synostoses multiple with brachydactyly|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome|symphalangism brachydactyly syndrome|synostoses, multiple, with brachydactyly|multiple synostoses syndrome caused by mutation in NOG|symphalangism-brachydactyly syndrome|Wl syndrome|multiple synostoses syndrome type 1|multiple synostoses syndrome 1|nog multiple synostoses syndrome|SYNS1|deafness-symphalangism syndrome of Herrmann|NOG multiple synostoses syndrome GARD:0003836|OMIM:186500|UMLS:C0342282 owl:Class HGNC:7866 biolink:NamedThing NOG tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16280 biolink:NamedThing TRIM36 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013081 biolink:NamedThing lymphoproliferative syndrome 1 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. tmpak2llvmy_mondo_relaxed.owl LPFS1|ITK deficiency|ITK lymphoproliferative syndrome|lymphoproliferative syndrome caused by mutation in ITK|lymphoproliferative syndrome type 1|lymphoproliferative syndrome 1 DOID:0060707|OMIM:613011|Orphanet:538963|MESH:C567815|UMLS:C3552634|ICD10:D47.9|NCIT:C126344 owl:Class HGNC:6171 biolink:NamedThing ITK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007378 biolink:NamedThing posterior polymorphous corneal dystrophy 1 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. tmpak2llvmy_mondo_relaxed.owl Ched1|Ppcd1|corneal dystrophy, hereditary polymorphous posterior|corneal dystrophy, POSTERIOR polymorphous, 1|posterior polymorphous corneal dystrophy type 1|corneal endothelial dystrophy 1, autosomal dominant, formerly|PPCD1|corneal endothelial dystrophy 1, autosomal dominant|posterior polymorphous corneal dystrophy|corneal dystrophy, posterior polymorphous, type 1 DOID:0110855|OMIM:122000|UMLS:CN029625|SCTID:29504002|ICD10:H18.50|ICD9:371.58 owl:Class HGNC:15804 biolink:NamedThing OVOL2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000765 biolink:NamedThing erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. tmpak2llvmy_mondo_relaxed.owl normoblast FMA:83504|CALOHA:TS-0289|BTO:0001571 cell owl:Class CL:0000547 biolink:NamedThing proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. tmpak2llvmy_mondo_relaxed.owl rubriblast|pronormoblast FMA:83518 cell owl:Class UBERON:0002809 biolink:NamedThing right temporal lobe A temporal lobe that is part of a right cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002813 biolink:NamedThing right cerebral hemisphere A cerebral hemisphere that is in the right side of a brain. tmpak2llvmy_mondo_relaxed.owl right hemisphere owl:Class MONDO:0021373 biolink:NamedThing neoplasm of parietal lobe A neoplasm (disease) that involves the parietal lobe. tmpak2llvmy_mondo_relaxed.owl parietal lobe neoplasm (disease)|neoplasm of parietal lobe|neoplasm of the parietal lobe|tumor of parietal lobe|parietal lobe neoplasm|parietal lobe tumor|tumor of the parietal lobe SCTID:126956001|NCIT:C5573|UMLS:C1263888 owl:Class MONDO:0005502 biolink:NamedThing dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). tmpak2llvmy_mondo_relaxed.owl break bone fever|classic dengue|Dengue|Dengue virus infection|Philippine hemorrhagic fever|Dengue virus disease or disorder|breakbone fever|DF|Thai hemorrhagic fever|Dengue virus caused disease or disorder|Dengue fever|Dengue virus infectious disease|Singapore hemorrhagic fever|classical dengue|hemorrhagic dengue MedDRA:10012310|ICD10:A97.2|ICD10:A97.1|ICD9:061|DOID:12205|ICD10:A90|GARD:0006254|MESH:D003715|NCIT:C34528|ICD10:A97.0|ICD10:A97.9|EFO:0005547|Orphanet:99828|SCTID:38362002|UMLS:C0011311 owl:Class NCBITaxon:12637 biolink:NamedThing Dengue virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:32761 biolink:NamedThing L-tyrosinate(2-) The L-enantiomer of tyrosinate(2-). tmpak2llvmy_mondo_relaxed.owl L-tyrosinate(2-)|(2S)-2-amino-3-(4-oxidophenyl)propanoate|L-tyrosinate|L-tyrosine dianion owl:Class CHEBI:32774 biolink:NamedThing D-tyrosinate(2-) The D-enantiomer of tyrosinate(2-). tmpak2llvmy_mondo_relaxed.owl D-tyrosinate|D-tyrosinate(2-)|(2R)-2-amino-3-(4-oxidophenyl)propanoate|D-tyrosine dianion owl:Class UBERON:0001749 biolink:NamedThing parenchyma of parathyroid gland A parenchyma that is part of a parathyroid gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl parathyroid parenchyma|parenchyma of parathyroid|parathyroid gland parenchyma owl:Class MONDO:0002386 biolink:NamedThing mixed epithelial stromal tumor of the kidney A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. tmpak2llvmy_mondo_relaxed.owl mixed epithelial stromal tumor of the kidney|MEST|adult mesoblastic nephroma|mixed epithelial and stromal tumour of kidney|benign MEST UMLS:C1272677|EFO:1000381|DOID:2678|NCIT:C37263 owl:Class GO:0008015 biolink:NamedThing blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. tmpak2llvmy_mondo_relaxed.owl hemolymph circulation owl:Class UBERON:0001177 biolink:NamedThing left hepatic duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. tmpak2llvmy_mondo_relaxed.owl ductus hepaticus sinister owl:Class MONDO:0013770 biolink:NamedThing atrial septal defect 9 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in GATA6|atrial heart septal defect type 9|GATA6 atrial heart septal defect|atrial septal defect type 9|atrial septal defect 9|ASD9 UMLS:C3280943|DOID:0110114|ICD10:Q21.1|OMIM:614475 owl:Class HGNC:4174 biolink:NamedThing GATA6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005806 biolink:NamedThing portal system In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. tmpak2llvmy_mondo_relaxed.owl portal venous system owl:Class UBERON:0004535 biolink:NamedThing cardiovascular system Anatomical system that has as its parts the heart and blood vessels. tmpak2llvmy_mondo_relaxed.owl Herz und Gefaesssystem|CV system owl:Class UBERON:0002533 biolink:NamedThing post-anal tail bud The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. tmpak2llvmy_mondo_relaxed.owl tail bud|tailbud|end bud|tail bud mesenchyme owl:Class MONDO:0007049 biolink:NamedThing acroleukopathy, symmetric tmpak2llvmy_mondo_relaxed.owl acroleukopathy, symmetric MESH:C566322|UMLS:C1863342|OMIM:102000 owl:Class HGNC:358 biolink:NamedThing AIP tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010550 biolink:NamedThing Paraplegia Severe or complete weakness of both lower extremities with sparing of the upper extremities. tmpak2llvmy_mondo_relaxed.owl Leg paralysis MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000 peter 2009-10-01T08:32:57Z human_phenotype owl:Class MONDO:0014935 biolink:NamedThing frontometaphyseal dysplasia 2 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene. tmpak2llvmy_mondo_relaxed.owl MAP3K7 frontometaphyseal dysplasia|frontometaphyseal dysplasia caused by mutation in MAP3K7|Frontometaphyseal dysplasia type 2|frontometaphyseal dysplasia 2; FMD2|FMD2|Frontometaphyseal dysplasia 2 OMIM:617137|UMLS:C4310697|DOID:0111787 owl:Class HGNC:6859 biolink:NamedThing MAP3K7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001424 biolink:NamedThing ulna The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006306 biolink:NamedThing ulna cartilage element A cartilaginous condensation that has the potential to develop into a ulna. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003983 biolink:NamedThing conus arteriosus A conical pouch formed from the upper and left angle of the right ventricle in the chordate heart, from which the pulmonary artery arises[WP]. the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminates in the pulmonary trunk[MP]. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000323 biolink:NamedThing atmospheric boundary layer The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence). tmpak2llvmy_mondo_relaxed.owl planetary boundary layer owl:Class ENVO:01000267 biolink:NamedThing atmosphere An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009892 biolink:NamedThing Chuvash polycythemia Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. tmpak2llvmy_mondo_relaxed.owl erythrocytosis, familial, 2|erythrocytosis, autosomal recessive benign|Chuvash erythrocytosis|polycythemia, Chuvash type|ECYT2|Chuvash erythromatosis|autosomal recessive benign erythrocytosis|familial polycythemia caused by mutation in VHL|Chuvash type polycythemia|Von Hippel-Lindau-dependent polycythemia|VHL familial polycythemia|familial erythrocytosis 2|polycythemia, VHL-dependent|Chuvash polycythemia|erythrocytosis, familial, type 2 Orphanet:238557|DOID:0060474|OMIM:263400|MESH:C563918|UMLS:C1837915|ICD10:D75.1 owl:Class HGNC:12687 biolink:NamedThing VHL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001294 biolink:NamedThing inner medulla of kidney Innermost region of the mammalian kidney. tmpak2llvmy_mondo_relaxed.owl kidney inner medulla|renal inner medulla|inner zone of renal medulla|inner renal medulla|zona interna medullae renalis|zona interna (medullaris renalis)|inner zone of medulla of kidney|set of inner region of renal pyramids owl:Class MONDO:0021152 biolink:NamedThing inherited A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. tmpak2llvmy_mondo_relaxed.owl familial|constitutitional genetic|genetic|inherited genetic|hereditary EFO:0004420 owl:Class MONDO:0014490 biolink:NamedThing ketoacidosis due to monocarboxylate transporter-1 deficiency tmpak2llvmy_mondo_relaxed.owl monocarboxylate transporter 1 deficiency|MCT1D Orphanet:438075|UMLS:C4015186|ICD10:E88.8|OMIM:616095 owl:Class HGNC:10922 biolink:NamedThing SLC16A1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q11.2 biolink:NamedThing chr14q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 24100000 18200000 hg38 owl:Class OBO:CHR_9606-chr14q11 biolink:NamedThing chr14q11 (Human) tmpak2llvmy_mondo_relaxed.owl 24100000 17200000 hg38 owl:Class MONDO:0012717 biolink:NamedThing renal hypomagnesemia 4 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. tmpak2llvmy_mondo_relaxed.owl renal hypomagnesemia type 4|familial primary hypomagnesemia caused by mutation in EGF|HOMG4|hypomagnesemia 4, renal|hypomagnesemia, renal, Normocalciuric|EGF familial primary hypomagnesemia|EGF primary hypomagnesemia|primary hypomagnesemia caused by mutation in EGF ICD10:E83.4|OMIM:611718|MESH:C567127|DOID:0060882|UMLS:C2673648 owl:Class HGNC:3229 biolink:NamedThing EGF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014724 biolink:NamedThing Joubert syndrome 24 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in TCTN2|Joubert syndrome 24|Joubert syndrome type 24|TCTN2 Joubert syndrome|JBTS24 UMLS:C4084841|OMIM:616654|DOID:0110993 owl:Class HGNC:25774 biolink:NamedThing TCTN2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011364 biolink:NamedThing cleidocephalicus muscle The cleidomastoideus is a thick, strap-like muscle that together with the cleidocervicalis forms the proximal part of the brachiocephalicus. It lies beneath the cleidocervicalis. Its origin is the clavicular tendon with its insertion being at the mastoid process of the temporal bone. It is distinctly narrow and is united with the cleidocervicalis and cleidobrachialis by the clavicular tendon. Together with the other two components of the brachiocephalicus muscle, its primary function is to advance the free limb, however, it can also act as an shoulder extensor. Acting bilaterally, it fixes and depresses the neck, while by its unilateral action, it allows the head and neck to be drawn to the side. Its blood supply is the inferior cervical, carotid and vertebral arteries and its nerve supply is the spinal accessory, cervical and axillary nerves. tmpak2llvmy_mondo_relaxed.owl cleidomastoid|cleidomastoideus|cleidocephalic|cleidomastoid muscle|cleidocephalic muscle|cleidocephalicus|pars mastoideus owl:Class UBERON:0011220 biolink:NamedThing mastoid process of temporal bone The mastoid process is a conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. It is located just behind the external acoustic meatus, and lateral to the styloid process. Its size and form vary somewhat; it is larger in the male than in the female. This process serves for the attachment of the posterior belly of the digastric, sternocleidomastoid, splenius capitis, and longissimus capitis muscles. The word is derived from the Greek 'masto-', alluding to its resemblance to the breast. tmpak2llvmy_mondo_relaxed.owl mastoid|mastoid process|mastoid process of skull|processus mastoideus ossis temporalis owl:Class MONDO:0019356 biolink:NamedThing urogenital tract malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:83001 owl:Class GO:0019233 biolink:NamedThing sensory perception of pain The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl nociception|perception of physiological pain owl:Class OBO:CHR_9606-chr5p1 biolink:NamedThing chr5p1 (Human) tmpak2llvmy_mondo_relaxed.owl 48800000 0 hg38 owl:Class UBERON:0003846 biolink:NamedThing thymus epithelium An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of thymus gland|thymus gland epithelium|thymus gland epithelial tissue|thymic epithelial tissue|thymic epithelium|epithelial tissue of thymus|thymus epithelial tissue|epithelium of thymus|epithelium of thymus gland owl:Class PR:000007636 biolink:NamedThing forkhead box protein N1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006752 biolink:NamedThing Erysipelothrix rhusiopathiae infectious disease A disease caused by infection with Erysipelothrix rhusiopathiae. tmpak2llvmy_mondo_relaxed.owl Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder EFO:1000928 owl:Class NCBITaxon:1648 biolink:NamedThing Erysipelothrix rhusiopathiae tmpak2llvmy_mondo_relaxed.owl Erysipelothrix porci|Bacillus insidiosus|Erysipelothrix murisepticus|Bacillus rhusiopathiae suis|Bacterium rhusiopathiae|Erysipelothrix insidiosa|Erysipelothrix erysipeloides PMID:1503975|PMID:8427802|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0003169 biolink:NamedThing diencephalic astrocytomas A astrocytoma that involves the diencephalon. tmpak2llvmy_mondo_relaxed.owl astrocytoma of the diencephalon|diencephalic astrocytoma|diencephalon astrocytoma|astrocytoma (excluding glioblastoma) of diencephalon|astrocytoma of diencephalon|diencephalon astrocytoma (excluding glioblastoma) NCIT:C5128|UMLS:C1333284|DOID:4855 owl:Class UBERON:0002355 biolink:NamedThing pelvic region of trunk The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. tmpak2llvmy_mondo_relaxed.owl pelvic region|lesser pelvis|true pelvis|pelvis region|pelvis owl:Class UBERON:0002417 biolink:NamedThing abdominal segment of trunk The abdominal segment of the torso. tmpak2llvmy_mondo_relaxed.owl lower trunk|lower body|abdomen/pelvis/perineum|lumbar region owl:Class UBERON:0005270 biolink:NamedThing renal cortex interstitium A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. tmpak2llvmy_mondo_relaxed.owl cortical stroma|renal cortical interstitial tissue|kidney cortex interstitium owl:Class MONDO:0012541 biolink:NamedThing deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. tmpak2llvmy_mondo_relaxed.owl deafness, congenital, with inner EAR agenesis, microtia, and microdontia|congenital deafness with inner ear agenesis microtia and microdontia|LAMM syndrome|deafness congenital with inner ear agenesis microtia and microdontia|deafness with labyrinthine aplasia, microtia, and microdontia|microdontia-type I microtia-deafness syndrome|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|deafness with Lamm|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia GARD:0010707|MESH:C565195|ICD10:Q16.5|OMIM:610706|UMLS:C1853144|SCTID:702360007|Orphanet:90024|ICD9:759.89 owl:Class HGNC:3681 biolink:NamedThing FGF3 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:09000017 biolink:NamedThing concentration of nitrogen atom in soil The concentration of a nitrogen atom when measured in soil. tmpak2llvmy_mondo_relaxed.owl soil nitrogen atom concentration owl:Class N5e50601938c5438da4c821c2641a2346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0010324 biolink:NamedThing membrane invagination The infolding of a membrane. tmpak2llvmy_mondo_relaxed.owl single-organism membrane invagination owl:Class MONDO:0015643 biolink:NamedThing photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. tmpak2llvmy_mondo_relaxed.owl photoparoxysmal response|photogenic epilepsy|PSE UMLS:C0393720|SCTID:95208000|OMIMPS:132100|ICD9:345.80|Orphanet:166409|GARD:0005648|DOID:0060281|ICD10:G40.8 https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy owl:Class MONDO:0007595 biolink:NamedThing factor VII and Factor VIII, combined deficiency of tmpak2llvmy_mondo_relaxed.owl factor 7 and Factor VIII, combined deficiency of|multiple coagulation Factor deficiency 4|factor VII and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4 OMIM:134430|UMLS:C1851377|MESH:C565025 owl:Class HP:0003125 biolink:NamedThing Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpak2llvmy_mondo_relaxed.owl Factor VIII deficiency UMLS:C4025649|MSH:D006467|UMLS:C3494187|SNOMEDCT_US:234440005 HP:0008355|HP:0008349 human_phenotype owl:Class UBERON:0003080 biolink:NamedThing anterior neural tube tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001049 biolink:NamedThing neural tube In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl presumptive central nervous system|tubus neuralis|neural primordium owl:Class GO:0006910 biolink:NamedThing phagocytosis, recognition The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell. tmpak2llvmy_mondo_relaxed.owl recognition of phagocytosed substance by phagocytic cell owl:Class GO:0006909 biolink:NamedThing phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013262 biolink:NamedThing dilated cardiomyopathy 1S Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpak2llvmy_mondo_relaxed.owl MYH7 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7|dilated cardiomyopathy type 1S|dilated cardiomyopathy-1S|CMD1S|cardiomyopathy, dilated, type 1S|left ventricular noncompaction 5 OMIM:613426|DOID:0110454|MESH:C563538|GARD:0012832|ICD10:I42.0 https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s owl:Class HGNC:7577 biolink:NamedThing MYH7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006542 biolink:NamedThing outer medulla outer stripe loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012312 biolink:NamedThing short QT syndrome type 1 Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene. tmpak2llvmy_mondo_relaxed.owl short QT syndrome caused by mutation in KCNH2|KCNH2 short QT syndrome|short QT syndrome type 1|short QT syndrome 1|SQT1|SQTS UMLS:C1865020|OMIM:609620|MESH:C566506 owl:Class HGNC:6251 biolink:NamedThing KCNH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011851 biolink:NamedThing migraine with or without aura, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl MGR6|migraine, familial hemiplegic, 4|migraine with or without aura, susceptibility to, type 6|migraine with or without aura, susceptibility to, 6 OMIM:607516|MESH:C564385 owl:Class MONDO:0009662 biolink:NamedThing mucopolysaccharidosis type 7 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis, type VII|mucopolysaccharidosis VII|Sly disease|deficiency of beta-glucuronidase|mucopolysaccharidosis type 7|mucopolysaccharidosis, type 7|gusb deficiency|beta-glucuronidase deficiency|MPS 7|MPS7|mucopolysaccharidosis type VII|MPSVII|Beta-glucuronidase deficiency|Sly syndrome|Gus deficiency|MPS VII|mucopolysaccharidosis, mps-VII|MPS VII - Sly syndrome|MPS VII - mucopolysaccharidosis VII|Gusb deficiency SCTID:43916004|MedDRA:10056893|OMIM:253220|ICD10:E76.2|GARD:0007096|NCIT:C84903|MESH:D016538|Orphanet:584|ICD10:E76.29|DOID:12803|UMLS:C0085132 owl:Class GO:0004566 biolink:NamedThing beta-glucuronidase activity Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. tmpak2llvmy_mondo_relaxed.owl beta-glucuronide glucuronohydrolase activity|glucuronidase activity|ketodase activity|exo-beta-D-glucuronidase activity|beta-D-glucuronoside glucuronosohydrolase activity owl:Class MONDO:0021141 biolink:NamedThing acquired tmpak2llvmy_mondo_relaxed.owl not genetically inherited Orphanet:409941 owl:Class OBO:CHR_9606-chr10q2 biolink:NamedThing chr10q2 (Human) tmpak2llvmy_mondo_relaxed.owl 133797422 51100000 hg38 owl:Class OBO:CHR_9606-chr11p15 biolink:NamedThing chr11p15 (Human) tmpak2llvmy_mondo_relaxed.owl 22000000 0 hg38 owl:Class UBERON:0001008 biolink:NamedThing renal system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.. tmpak2llvmy_mondo_relaxed.owl renal or urinary system|renal system|renal/urinary system|urinary tract|systema urinarium|excretory system|urinary system|systema urinaria owl:Class UBERON:0002067 biolink:NamedThing dermis The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. tmpak2llvmy_mondo_relaxed.owl corium|cutis|vertebrate dermis owl:Class CL:0002672 biolink:NamedThing retinal progenitor cell A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-08-16T02:38:01Z cell owl:Class CL:0000133 biolink:NamedThing neurectodermal cell Ectoderm destined to be nervous tissue. tmpak2llvmy_mondo_relaxed.owl neurectoderm cell cell owl:Class MONDO:0003481 biolink:NamedThing dysgerminoma of ovary A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. tmpak2llvmy_mondo_relaxed.owl dysgerminoma|ovarian germ cell dysgerminoma|ovary dysgerminoma (disease)|dysgerminoma of the ovary|dysgerminoma of ovary|germ cell dysgerminoma of ovary|germ cell dysgerminoma of the ovary|ovarian dysgerminoma ONCOTREE:ODYS|SCTID:254874008|EFO:1000414|NCIT:C8106|DOID:5511|UMLS:C0346185 owl:Class UBERON:0000992 biolink:NamedThing ovary the gonad of a female organism which contains germ cells tmpak2llvmy_mondo_relaxed.owl female organism genitalia gonada|gonada of reproductive system of female organism|gonad of female reproductive system|gonad of female organism genitalia|female reproductive system gonada|gonada of genitalia of female organism|gonad of genitalia of female organism|ovum-producing ovary|animal ovary|gonad of female organism reproductive system|gonada of female organism reproductive system|genitalia of female organism gonad|female organism reproductive system gonada|gonad of reproductive system of female organism|gonada of female organism genitalia|female organism reproductive system gonad|female gonad|genitalia of female organism gonada|ovaries|female reproductive system gonad|ovarium|gonada of female reproductive system|reproductive system of female organism gonada|female organism genitalia gonad|reproductive system of female organism gonad owl:Class NCBITaxon:2560602 biolink:NamedThing Mumps orthorubulavirus tmpak2llvmy_mondo_relaxed.owl Mumps rubulavirus|Mumps virus GC_ID:1 NCBITaxon:11161|NCBITaxon:1979165 ncbi_taxonomy owl:Class GO:0030182 biolink:NamedThing neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048699 biolink:NamedThing generation of neurons The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. tmpak2llvmy_mondo_relaxed.owl neuron generation owl:Class MONDO:0000518 biolink:NamedThing sacrum chordoma A chordoma (disease) that involves the fused sacrum. tmpak2llvmy_mondo_relaxed.owl chordoma (disease) of fused sacrum|fused sacrum chordoma (disease) DOID:0050900|SCTID:447730004|UMLS:C3164279 owl:Class MONDO:0008039 biolink:NamedThing tropical spastic paraparesis Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. tmpak2llvmy_mondo_relaxed.owl myelopathy, HTLV-1-associated|Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|TSP|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis|tropical spastic paraparesis (formerly)|ham/TSP|HTLV-1-associated myelopathy/tropical spastic paraparesis|ham|tropical spastic paralysis|tropical spastic paraplegia|familial spastic paraparesis, HTLV-1-associated|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|HTLV-1 associated myelopathy/tropical spastic paraparesis|HTLV-associated myelopathy OMIM:159580|ICD10:G04.1|GARD:0008208|ICD9:323.01|MESH:D015493|MedDRA:10044696|Orphanet:289326|DOID:321|EFO:0007527|SCTID:714279000|UMLS:C0030481 owl:Class UBERON:0001736 biolink:NamedThing submandibular gland Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible. tmpak2llvmy_mondo_relaxed.owl mandibular gland|glandula submandibularis|submandibular salivary gland|submaxillary gland|mandibular salivary gland|maxillary gland owl:Class UBERON:0009877 biolink:NamedThing metapodium region Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region tmpak2llvmy_mondo_relaxed.owl cannon region|metacarpal or metatarsal part of limb|metapodial segment|metacarpus/metatarsus region|metapodium|metacarpus/metatarsus|equine cannon region owl:Class MONDO:0044887 biolink:NamedThing central nervous system non-hodgkin lymphoma A non-Hodgkin lymphoma that arises from the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system non-Hodgkin lymphoma|non-Hodgkin lymphoma of central nervous system|Central nervous system non-Hodgkin lymphoma|Primary Central nervous system non-Hodgkin lymphoma UMLS:C2213246|SCTID:448254007|NCIT:C114779 owl:Class UBERON:0001017 biolink:NamedThing central nervous system The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. tmpak2llvmy_mondo_relaxed.owl cerebrospinal axis|neuraxis|CNS|systema nervosum centrale owl:Class UBERON:0006208 biolink:NamedThing auditory hillocks A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head. tmpak2llvmy_mondo_relaxed.owl auricular hillock|auditory hillock of Hiss|auditory tubercles|hillock of Hiss owl:Class GO:0042069 biolink:NamedThing regulation of catecholamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. tmpak2llvmy_mondo_relaxed.owl regulation of catecholamine metabolism owl:Class UBERON:0005732 biolink:NamedThing paired limb/fin field A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. tmpak2llvmy_mondo_relaxed.owl paired limb/fin field|limb/fin field of lateral plate mesoderm owl:Class UBERON:0003081 biolink:NamedThing lateral plate mesoderm Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. tmpak2llvmy_mondo_relaxed.owl lateral plate mesenchyme|LPM|lateral plate|mesoderma laminae lateralis|lateral mesoderm owl:Class MONDO:0007269 biolink:NamedThing dilated cardiomyopathy 1A Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, dilated, type 1A|cardiomyopathy, dilated, 1A|cardiomyopathy, idiopathic dilated|dilated cardiomyopathy with conduction defect 1|familial isolated dilated cardiomyopathy caused by mutation in LMNA|cardiomyopathy, congestive|familial dilated cardiomyopathy with conduction defect due to LMNA mutation|cardiomyopathy, familial idiopathic|LMNA familial isolated dilated cardiomyopathy|dilated cardiomyopathy 1A|cardiomyopathy, dilated, with conduction defect 1|dilated cardiomyopathy type 1A|CDCD1 OMIM:115200|GARD:0001104|DOID:0110425|ICD10:I42.0|SCTID:766883006|Orphanet:300751|UMLS:C1449563 https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 owl:Class HGNC:6636 biolink:NamedThing LMNA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002659 biolink:NamedThing negative regulation of peripheral tolerance induction Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction. tmpak2llvmy_mondo_relaxed.owl down-regulation of peripheral tolerance induction|inhibition of peripheral tolerance induction|downregulation of peripheral tolerance induction|down regulation of peripheral tolerance induction owl:Class GO:0002465 biolink:NamedThing peripheral tolerance induction Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23026 biolink:NamedThing GNPTG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008307 biolink:NamedThing heart endothelium An endothelium that is part of a heart [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac endothelium owl:Class HsapDv:0000085 biolink:NamedThing 6-12 year-old child stage Child stage that refers to a child who is over 6 and under 13 years old. tmpak2llvmy_mondo_relaxed.owl prepubescent owl:Class HsapDv:0000084 biolink:NamedThing 2-5 year-old child stage Child stage that refers to a child who is over 24 months and under 6 years old. tmpak2llvmy_mondo_relaxed.owl preschool child owl:Class CHEBI:33290 biolink:NamedThing food Any material that can be ingested by an organism.|A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. tmpak2llvmy_mondo_relaxed.owl foodstuffs|foodstuff|food role|foods|food materials|food material owl:Class CHEBI:78295 biolink:NamedThing food component A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.|Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. tmpak2llvmy_mondo_relaxed.owl food components|dietary component|dietary components owl:Class MONDO:0013519 biolink:NamedThing dyskeratosis congenita, autosomal recessive 2 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. tmpak2llvmy_mondo_relaxed.owl DKCB2|dyskeratosis congenita, autosomal recessive 2|dyskeratosis congenita, autosomal recessive type 2|autosomal recessive dyskeratosis congenita 2 UMLS:C3151441|OMIM:613987|DOID:0070017 owl:Class HP:0000007 biolink:NamedThing Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). tmpak2llvmy_mondo_relaxed.owl Autosomal recessive|Autosomal recessive form|Autosomal recessive predisposition SNOMEDCT_US:258211005|UMLS:C4020899|UMLS:C0441748 HP:0001416|HP:0001526 human_phenotype owl:Class ECTO:0000002 biolink:NamedThing exposure to electromagnetic radiation A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. tmpak2llvmy_mondo_relaxed.owl electromagnetic radiation exposure owl:Class UBERON:0005998 biolink:NamedThing tricuspid valve cusp The three fibrous triangular components and associated flaps of the tricuspid valve tmpak2llvmy_mondo_relaxed.owl septal leaflet of right-sided tricuspid valve|septal cusp of tricuspid valve|septal tricuspid leaflet|cuspis septalis (valva tricuspidalis)|septal leaflet of tricuspid valve|septal cusp of right atrioventricular valve|cuspis septalis valvae atrioventricularis dextrae owl:Class CL:1000313 biolink:NamedThing gastric goblet cell A goblet cell that is part of the epithelium of stomach. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of stomach FMA:263035 cell owl:Class MONDO:0017903 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency ICD10:D84.8|UMLS:CN203963|Orphanet:319589 owl:Class HGNC:5440 biolink:NamedThing IFNGR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012536 biolink:NamedThing osteogenesis imperfecta type 7 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta type VII|OI type 7|osteogenesis imperfecta, type 7|OI, type 7|OI7|osteogenesis imperfecta, type IIb, formerly|osteogenesis imperfecta type 7|OI type VII|osteogenesis imperfecta, type VII|CRTAP osteogenesis imperfecta|osteogenesis imperfecta, type IIb|osteogenesis imperfecta caused by mutation in CRTAP OMIM:610682|UMLS:C1853162|ICD10:Q78.0|GARD:0008701|SCTID:254111008|DOID:0110337 owl:Class HGNC:2379 biolink:NamedThing CRTAP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010339 biolink:NamedThing 1st arch mandibular mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mandibular mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009584 biolink:NamedThing 1st arch mandibular mesenchyme Mesenchyme that is part of a 1st arch mandibular component. tmpak2llvmy_mondo_relaxed.owl mesenchymal region of mandibular component of first pharyngeal arch|mesenchyme of mandibular component|mandibular component mesenchyme|mandibular mesenchyme owl:Class MONDO:0007875 biolink:NamedThing Larsen syndrome Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. tmpak2llvmy_mondo_relaxed.owl Larsen syndrome|LRS|dominant Larsen syndrome|autosomal dominant Larsen syndrome DOID:14764|GARD:0006860|Orphanet:503|MESH:C580241|ICD10:Q74.8|ICD9:759.89|SCTID:63387002|UMLS:C0175778|OMIM:150250 https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome owl:Class HGNC:3755 biolink:NamedThing FLNB tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:7000058 biolink:NamedThing exposure to gaseous environmental material A exposure event involving the interaction of an exposure receptor to gaseous environmental material. tmpak2llvmy_mondo_relaxed.owl gaseous environmental material exposure owl:Class ENVO:01000797 biolink:NamedThing gaseous environmental material A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely. tmpak2llvmy_mondo_relaxed.owl gas owl:Class MONDO:0003987 biolink:NamedThing lung lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl primary lung lymphoma|lymphoma of lung|pulmonary lymphoma|lung lymphoma|lymphoma of the lung DOID:6760|UMLS:C1704383|NCIT:C4794 owl:Class MONDO:0014103 biolink:NamedThing hypogonadotropic hypogonadism 18 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. tmpak2llvmy_mondo_relaxed.owl IL17RD hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in IL17RD|HH18|hypogonadotropic hypogonadism 18 with or without anosmia OMIM:615267|UMLS:C3808975|ICD10:E23.0|DOID:0090076 owl:Class HGNC:17616 biolink:NamedThing IL17RD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019380 biolink:NamedThing western equine encephalitis An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. tmpak2llvmy_mondo_relaxed.owl Western equine encephalitis virus infectious encephalitis|WEE|Western equine encephalomyelitis|Western equine encephalitis virus caused infectious encephalitis GARD:0007888|MESH:D020241|SCTID:47523006|UMLS:C0153064|NCIT:C85227|DOID:10843|ICD9:062.1|ICD10:A83.1|MedDRA:10014614|Orphanet:83593|EFO:0007546 https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis owl:Class UBERON:0015008 biolink:NamedThing thoracic vertebra endochondral element A vertebral endochondral element in the thoracic region of the vertebral column. tmpak2llvmy_mondo_relaxed.owl thoracic vertebra element|thoracic vertebra skeletal element owl:Class UBERON:0006073 biolink:NamedThing thoracic region of vertebral column That part of the spine comprising the thoracic vertebrae. tmpak2llvmy_mondo_relaxed.owl columna vertebralis thoracicus|thoracic spine|thoracic vertebrae series|thoracic vertebral column|axial skeleton thoracic region owl:Class MONDO:0005208 biolink:NamedThing amelanotic skin melanoma A amelanotic melanoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl amelanotic melanoma of zone of skin|amelanotic malignant melanoma (of skin)|amelanotic malignant melanoma of the skin|zone of skin amelanotic melanoma|amelanotic malignant skin melanoma|amelanotic cutaneous (skin) melanoma|amelanotic melanoma of the skin|skin amelanotic melanoma|amelanotic melanoma of skin|skin amelanotic malignant melanoma|amelanotic skin melanoma|amelanotic malignant melanoma of skin EFO:0002894|Wikipedia:Amelanotic_melanoma|DOID:10054|UMLS:C0349515|NCIT:C4633 owl:Class CHEBI:16998 biolink:NamedThing D-phenylalanine The D-enantiomer of phenylalanine. tmpak2llvmy_mondo_relaxed.owl D-PHENYLALANINE|D-Phenylalanine|(2R)-2-amino-3-phenylpropanoic acid|D-Phe|phenylalanine D-form|DPN|D-phenylalanine|D-alpha-Amino-beta-phenylpropionic acid owl:Class CHEBI:32494 biolink:NamedThing D-phenylalaninate The D-enantiomer of phenylalaninate. tmpak2llvmy_mondo_relaxed.owl (2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion|D-phenylalaninate owl:Class MONDO:0012983 biolink:NamedThing cone-rod dystrophy 12 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in PROM1|cone-rod dystrophy 12|CORD12|cone-rod dystrophy type 12|PROM1 cone-rod dystrophy OMIM:612657|UMLS:C2675210|MESH:C567206|DOID:0111019 owl:Class HGNC:9454 biolink:NamedThing PROM1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:48796 biolink:NamedThing Setaria tmpak2llvmy_mondo_relaxed.owl Setaria GC_ID:1 ncbi_taxonomy owl:Class GO:0071742 biolink:NamedThing IgE immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010720 biolink:NamedThing hindlimb zeugopod skeleton Subdivision of skeleton consisting of all skeletal elements in an hindlimb zeugopod region. Typically consists of the tibia and the fibula. tmpak2llvmy_mondo_relaxed.owl hindlimb zygopod skeleton|crural skeleton|hind epipodium|hindlimb epipodium|posterior zeugopodium skeleton|crus skeleton|posterior zeugopodium|mesomere 2 of pelvic appendage|skeleton cruris owl:Class HP:0011043 biolink:NamedThing Abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormality of circulating ACTH level|Abnormality of circulating adrenocorticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating corticotropin level UMLS:C4023574 Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. peter 2011-03-10T07:46:59Z human_phenotype owl:Class MONDO:0021383 biolink:NamedThing neoplasm of floor of mouth A neoplasm (disease) that involves the mouth floor. tmpak2llvmy_mondo_relaxed.owl mouth floor neoplasm|tumor of floor of mouth|neoplasm of mouth floor|floor of the mouth neoplasm|neoplasm of the floor of the mouth|floor of mouth neoplasm|tumor of the floor of the mouth|floor of the mouth tumor|floor of mouth tumor|mouth floor tumor|mouth floor neoplasm (disease)|tumor of mouth floor SCTID:126799003|UMLS:C0345538|NCIT:C4401 owl:Class UBERON:0003679 biolink:NamedThing mouth floor The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified]. tmpak2llvmy_mondo_relaxed.owl floor of the oval cavity|floor of mouth|sublingual region|floor of oval cavity owl:Class MONDO:0013785 biolink:NamedThing intellectual disability, autosomal recessive 34 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene. tmpak2llvmy_mondo_relaxed.owl CRADD autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive 34, with variant lissencephaly|intellectual disability, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive 34|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD|MRT34|mental retardation, autosomal recessive type 34|intellectual disability, autosomal recessive 34 OMIM:614499|NCIT:C153179|UMLS:C3281044 owl:Class HGNC:2340 biolink:NamedThing CRADD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003060 biolink:NamedThing pronephric duct In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. tmpak2llvmy_mondo_relaxed.owl ductus pronephricus|archinephric duct|pronephric ducts owl:Class UBERON:0005868 biolink:NamedThing maxillary prominence the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw tmpak2llvmy_mondo_relaxed.owl maxillary process of embryo|prominentia maxilaris|embryonic maxillary process|maxillary process owl:Class GO:0043574 biolink:NamedThing peroxisomal transport Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014830 biolink:NamedThing platelet-type bleeding disorder 20 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. tmpak2llvmy_mondo_relaxed.owl bleeding disorder, platelet-type, 20|autosomal dominant thrombocytopenia with platelet secretion defect|inherited bleeding disorder, platelet-type caused by mutation in SLFN14|SLFN14 inherited bleeding disorder, platelet-type|BDPLT20 UMLS:C4310797|Orphanet:466806|DOID:0111055|OMIM:616913 owl:Class HGNC:32689 biolink:NamedThing SLFN14 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050892 biolink:NamedThing intestinal absorption Any process in which nutrients are taken up from the contents of the intestine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014771 biolink:NamedThing Joubert syndrome 26 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. tmpak2llvmy_mondo_relaxed.owl KIAA0556 Joubert syndrome|Joubert syndrome 26|JBTS26|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome type 26 OMIM:616784|DOID:0110995|UMLS:C4084843 owl:Class HGNC:29068 biolink:NamedThing KATNIP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002046 biolink:NamedThing thyroid gland A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. tmpak2llvmy_mondo_relaxed.owl glandula thyroidea|thyroid owl:Class GO:0051056 biolink:NamedThing regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. tmpak2llvmy_mondo_relaxed.owl regulation of small GTPase-mediated signal transduction owl:Class GO:0007264 biolink:NamedThing small GTPase mediated signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. tmpak2llvmy_mondo_relaxed.owl small GTPase-mediated signal transduction owl:Class UBERON:0010409 biolink:NamedThing ocular surface region The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. tmpak2llvmy_mondo_relaxed.owl ocular surface|eye surface|eye surface region owl:Class UBERON:0009193 biolink:NamedThing sphenoid cartilage element A sphenoid endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl sphenoid bone cartilage condensation owl:Class CHEBI:52214 biolink:NamedThing ligand Any molecule or ion capable of binding to a central metal atom to form coordination complexes. tmpak2llvmy_mondo_relaxed.owl ligands owl:Class UBERON:0003959 biolink:NamedThing rete testis An anastomosing network of delicate tubules located in the hilum of the testicle (mediastinum testis) that carries sperm from the seminiferous tubules to the vasa efferentia[WP]. tmpak2llvmy_mondo_relaxed.owl Haller's rete owl:Class UBERON:0005297 biolink:NamedThing testis sex cord The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP]. tmpak2llvmy_mondo_relaxed.owl primary sex cord|testis primitive sex cord|testis primary sex cords|testis cord owl:Class MONDO:0004394 biolink:NamedThing maxillary sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpak2llvmy_mondo_relaxed.owl maxillary antrum squamous cell carcinoma|maxillary sinus squamous cell carcinoma|maxillofacial sinus squamous cell carcinoma|epidermoid carcinoma of maxillary antrum|epidermoid carcinoma of the maxillary antrum|maxillofacial sinus epidermoid carcinoma|squamous cell carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|squamous cell carcinoma of the maxillofacial sinus|epidermoid carcinoma of maxillofacial sinus|epidermoid carcinoma of maxillary sinus|epidermoid carcinoma of the maxillary sinus|squamous cell carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillary sinus|epidermoid carcinoma of the maxillofacial sinus|maxillary antrum epidermoid carcinoma|squamous cell carcinoma of the maxillary antrum|maxillary sinus epidermoid carcinoma NCIT:C6064|UMLS:C1334647|SCTID:707354003|DOID:7910 owl:Class UBERON:0001764 biolink:NamedThing maxillary sinus One of the paired paranasal sinuses, located in the body of the maxilla, communicating with the middle meatus of the nasal cavity. tmpak2llvmy_mondo_relaxed.owl maxillary antrum|Highmore antrum|sinus maxilliaris|antrum of Highmore owl:Class MONDO:0010689 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 4 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. tmpak2llvmy_mondo_relaxed.owl COWCK|NADMR|Charcot-Marie-Tooth disease X-linked recessive type 4|CMTX 4|axonal motor sensory neuropathy with deafness and intellectual disability|CMTX4|neuropathy, axonal motor-sensory with deafness and mental retardation|neuropathy, axonal motor-sensory, with deafness and intellectual disability|CMT4X|neuropathy, axonal motor-sensory, with deafness and mental retardation|Charcot-Marie-Tooth disease with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and intellectual disability|axonal motor sensory neuropathy with deafness and mental retardation|Charcot-Marie-Tooth disease with deafness and intellectual disability|cowchock syndrome|Charcot-Marie-Tooth disease, X-linked recessive, 4|NAMSD|X-linked Charcot-Marie-Tooth disease type 4 GARD:0001240|ICD10:G60.0|DOID:0110212|SCTID:763400005|Orphanet:101078|OMIM:310490 owl:Class MONDO:0018769 biolink:NamedThing isosporiasis An intestinal infection with Isospora belli. tmpak2llvmy_mondo_relaxed.owl Cystoisospora belli disease or disorder|infection by Isospora belli and Isospora hominis|cystoisosporiasis|Isosporosis|Cystoisospora belli infectious disease|Cystoisospora belli caused disease or disorder MedDRA:10023076|SCTID:371423007|GARD:0003033|Orphanet:472|ICD10:A07.3|EFO:0007232|DOID:2112|MESH:D021865|NCIT:C4076|UMLS:C0311386 owl:Class GO:0097712 biolink:NamedThing vesicle targeting, trans-Golgi to periciliary membrane compartment The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060271 biolink:NamedThing cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpak2llvmy_mondo_relaxed.owl cilium assembly|cilium biogenesis|cilium organization|ciliogenesis|cilium formation|microtubule-based flagellum assembly|cilium morphogenesis owl:Class UBERON:0009853 biolink:NamedThing body of uterus The part of the uterus above the isthmus and below the orifices of the uterine tubes. tmpak2llvmy_mondo_relaxed.owl uterine corpus|uterine body|corpus uteri owl:Class MONDO:0014618 biolink:NamedThing retinitis pigmentosa 71 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in IFT172|RP71|retinitis pigmentosa 71|retinitis pigmentosa type 71|IFT172 retinitis pigmentosa ICD10:H35.5|OMIM:616394|DOID:0110363|UMLS:C4225342 owl:Class MONDO:0013916 biolink:NamedThing nephronophthisis 14 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. tmpak2llvmy_mondo_relaxed.owl ZNF423 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in ZNF423|nephronophthisis 14|nephronophthisis type 14|Joubert syndrome 19|NPHP14 OMIM:614844|UMLS:C3539071|DOID:0111122 owl:Class HGNC:16762 biolink:NamedThing ZNF423 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004572 biolink:NamedThing arterial system The part of the cardiovascular system consisting of all arteries. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001299 biolink:NamedThing atmospheric zone An environmental zone which is part of an atmosphere. tmpak2llvmy_mondo_relaxed.owl atmospheric area owl:Class OBO:CHR_9606-chr8p23.1 biolink:NamedThing chr8p23.1 (Human) tmpak2llvmy_mondo_relaxed.owl 12800000 6300000 hg38 owl:Class OBO:CHR_9606-chr8p23 biolink:NamedThing chr8p23 (Human) tmpak2llvmy_mondo_relaxed.owl 12800000 0 hg38 owl:Class NCBITaxon:803 biolink:NamedThing Bartonella quintana tmpak2llvmy_mondo_relaxed.owl Rickettsia weigli|Rickettsia wolhynica|Rickettsia pediculi|Burnetia (Rocha-limae) wolhynica|Wolhynia qintanae|Rochalimaea quintana|Rickettsia quintana GC_ID:11|PMID:8240958 ncbi_taxonomy owl:Class UBERON:0001708 biolink:NamedThing jaw skeleton Subdivision of skeleton which includes upper and lower jaw skeletons. tmpak2llvmy_mondo_relaxed.owl pharyngeal arch 1 skeleton|visceral arch 1|mandibular arch skeleton|mandibular arch|oral jaw skeleton|jaw cartilage|jaw|jaws|anterior splanchnocranium owl:Class UBERON:0035539 biolink:NamedThing esophageal artery Any of several arteries that arise from the aorta and supply blood to the esophagus. tmpak2llvmy_mondo_relaxed.owl aortic esophageal artery|oesophageal artery owl:Class UBERON:0001515 biolink:NamedThing thoracic aorta the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest tmpak2llvmy_mondo_relaxed.owl aorta thoracica|thoracic part of aorta|aorta thoracalis|pars thoracica aortae owl:Class UBERON:0001491 biolink:NamedThing wrist joint A joint connecting the forelimb zeugopod skeleton with the carpal skeleton. tmpak2llvmy_mondo_relaxed.owl carpal region joint|radiocarpal joint|joint of wrist|joint of carpal region owl:Class OBO:OBA_1001084 biolink:NamedThing feces osmolality The osmolality of a feces. tmpak2llvmy_mondo_relaxed.owl osmolality of feces owl:Class UBERON:0001988 biolink:NamedThing feces Portion of semisolid bodily waste discharged through the anus[MW,modified] tmpak2llvmy_mondo_relaxed.owl frass|spraint|spoor|ordure|guano|portionem cacas|portion of scat|portion of fecal material|scat|dung|portion of feces|excreta|portion of faeces|portion of fecal matter|portion of guano|portion of dung|fecal matter|stool|faeces|merde@fr|porción de mierda@en|excrement|fecal material|portion of excrement|matières fécales@fr|cow pat|fewmet|droppings|piece of shit|partie de la merde@fr|teil der fäkalien@de|cow dung owl:Class UBERON:0001027 biolink:NamedThing sensory nerve A nerve that transmits from sensory receptors on the surface of the body to the central nervous system. tmpak2llvmy_mondo_relaxed.owl afferent nerve|nervus sensorius owl:Class HGNC:16088 biolink:NamedThing SFXN4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003220 biolink:NamedThing metanephric mesenchyme one of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO] tmpak2llvmy_mondo_relaxed.owl metanephric blastema|metanephrogenic mesenchyme|metanephros associated mesenchyme|metanephric mesoderm owl:Class UBERON:0003706 biolink:NamedThing laryngeal vocal fold Either of two pairs of folds of mucous membrane projecting into the larynx. tmpak2llvmy_mondo_relaxed.owl vocal band|vocal cord|plica vocalis|true vocal cord|vocal chord|vocal fold owl:Class HGNC:2079 biolink:NamedThing CLN8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005619 biolink:NamedThing typhoid fever A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. tmpak2llvmy_mondo_relaxed.owl typhoidal salmonellosis|typhoid fever|typhoid ICD10:A01.0|MESH:D014435|Orphanet:99745|UMLS:C0041466|GARD:0009564|EFO:0006789|DOID:13258|ICD10:A01.00|ICD9:002.0|SCTID:4834000|NCIT:C35089 MONDO:0020486 owl:Class CL:0000971 biolink:NamedThing IgM memory B cell An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative. tmpak2llvmy_mondo_relaxed.owl memory IgM B-lymphocyte|memory IgM B lymphocyte|IgM memory B-cell|memory IgM B cell|memory IgM B-cell|IgM memory B lymphocyte|IgM memory B-lymphocyte IgM memory B cells are also reportedly CD1c-positive, CD95-positive, CD80-positive, CD84-positive, CD86-positive, CD150-negative, CD229-positive, CD289-positive, and CD290-positive. Transcription factors: Notch2-positive, PAX5-positive, SpiB-positive, Ets1-positive, and OBF1-positive. cell owl:Class GO:0071738 biolink:NamedThing IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005092 biolink:NamedThing right horn of sinus venosus tmpak2llvmy_mondo_relaxed.owl sinus venosus right horn owl:Class UBERON:0002063 biolink:NamedThing sinus venosus The sinus venosus is a large cardiac chamber at the inflow tract that receives venous blood from systemic circulation. precedes the atrium on the venous side of the chordate heart. tmpak2llvmy_mondo_relaxed.owl sinus venarum|venarum sinus|inflow tract|venarum|venosus|sinus venosus cordis owl:Class MONDO:0011168 biolink:NamedThing type 1 diabetes mellitus 10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. tmpak2llvmy_mondo_relaxed.owl type 1 diabetes mellitus caused by mutation in IL2RA|insulin-dependent diabetes mellitus 10|diabetes mellitus, insulin-dependent, type 10|IL2RA type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, 10|IDDM10 DOID:0110749|OMIM:601942|MESH:C566602|UMLS:C1866040|ICD10:E10 owl:Class HGNC:6008 biolink:NamedThing IL2RA tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411041 biolink:NamedThing chemical food component Any chemical or chemical mixture that exists in a food material or was added to a food material. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003902 biolink:NamedThing retinal neural layer The part of the retina that contains neurons and photoreceptor cells[GO]. tmpak2llvmy_mondo_relaxed.owl stratum nervosum retinae|neural retinal epithelium|neural retina|neural layer of retina|stratum nervosum (retina)|neuroretina owl:Class CL:0000786 biolink:NamedThing plasma cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. tmpak2llvmy_mondo_relaxed.owl plasmacyte|plasma B cell|plasmocyte|plasma B-cell|effector B cell|effector B-cell FMA:70574|BTO:0000392 Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. cell owl:Class CL:0000980 biolink:NamedThing plasmablast An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. tmpak2llvmy_mondo_relaxed.owl CD20-negative B cell|CD27-positive, CD38-positive, CD20-negative B cell FMA:84371 This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. cell owl:Class MONDO:0000359 biolink:NamedThing spondylocostal dysostosis Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). tmpak2llvmy_mondo_relaxed.owl SCD|costovertebral dysplasia|spondylocostal dysostosis|SCDO|spondylocostal dysplasia|Jarcho-Levin syndrome MESH:C537565|GARD:0006798|UMLS:CN201467|GARD:0012174|OMIMPS:277300|NCIT:C125598|GARD:0010726|DOID:0050568 Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. owl:Class UBERON:0002228 biolink:NamedThing rib An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses. tmpak2llvmy_mondo_relaxed.owl ribs|dorsal rib|pleural rib owl:Class FOODON:03301977 biolink:NamedThing beverage food product A liquid prepared for consumption, or a product that can be combined with water or milk to make one. tmpak2llvmy_mondo_relaxed.owl 2019-09-12 00:00:00 http://langual.org Damion Dooley owl:Class FOODON:03400229 biolink:NamedThing beverage (us cfr) Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0229 http://langual.org owl:Class UBERON:0002168 biolink:NamedThing left lung Lung which consists of the left upper lobe and left lower lobe.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000170 biolink:NamedThing pair of lungs The pair of anatomical structures comprised of a left lung and right lung. tmpak2llvmy_mondo_relaxed.owl lungs pair|lungs|set of lungs|pulmones owl:Class MONDO:0005676 biolink:NamedThing borna disease An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. tmpak2llvmy_mondo_relaxed.owl enzootic encephalomyelitis EFO:0007178|MESH:D001890|UMLS:C0006023|DOID:5154 owl:Class NCBITaxon:12455 biolink:NamedThing Borna disease virus tmpak2llvmy_mondo_relaxed.owl BDV|Borna disease virus BDV PMID:25449305|GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chrXq2 biolink:NamedThing chrXq2 (Human) tmpak2llvmy_mondo_relaxed.owl 156040895 76800000 hg38 owl:Class CHEBI:16670 biolink:NamedThing peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. tmpak2llvmy_mondo_relaxed.owl Peptid|Peptide|peptides|peptidos|peptido owl:Class CHEBI:33708 biolink:NamedThing amino-acid residue When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. tmpak2llvmy_mondo_relaxed.owl amino-acid residues|amino acid residue|amino-acid residue owl:Class UBERON:0002478 biolink:NamedThing orbitosphenoid the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young tmpak2llvmy_mondo_relaxed.owl ingrassia's process|lesser wing of sphenoidal bone|lesser wing of sphenoid bone|ala minor ossis sphenoidalis|lesser wing of sphenoid|orbitosphenoid bone|alae parvae|ala minor (os sphenoidale)|orbitosphenoids owl:Class MONDO:0002732 biolink:NamedThing lung benign neoplasm A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma. tmpak2llvmy_mondo_relaxed.owl benign lung tumor|benign lung neoplasm|benign tumor of lung|benign neoplasm of lung|tumor of the lung|benign neoplasm of the lung|benign tumor of the lung|lung benign neoplasm NCIT:C4454|DOID:3683 owl:Class MONDO:0009734 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 1 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene. tmpak2llvmy_mondo_relaxed.owl Nesidioblastosis of pancreas|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, type 1|hyperinsulinism, familial, with pancreatic Nesidioblastosis|hypoglycemia, hyperinsulinemic, of infancy|HHF1|ABCC8 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|persistent hyperinsulinemic hypoglycemia of infancy OMIM:256450|DOID:0070219|SCTID:360339005 owl:Class HGNC:59 biolink:NamedThing ABCC8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017791 biolink:NamedThing high bone mass osteogenesis imperfecta tmpak2llvmy_mondo_relaxed.owl high bone mass OI UMLS:CN203741|Orphanet:314029|ICD10:Q78.0 owl:Class HP:0011001 biolink:NamedThing Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. tmpak2llvmy_mondo_relaxed.owl Increased bone density|Osteosclerosis of bones|Increased bone mineral density|Osteosclerosis MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464 This term may be merged with Increased bone density in the future or made obsolete. sdoelken 2011-02-13T11:57:32Z HP:0002796|HP:0005711|HP:0005741|HP:0010738|HP:0004350 human_phenotype owl:Class MONDO:0006012 biolink:NamedThing viral pneumonia Inflammation of the lung parenchyma that is caused by a viral infection. tmpak2llvmy_mondo_relaxed.owl Viruses caused pneumonia|Viruses pneumonia EFO:0007541|ICD9:480|MESH:D011024|ICD9:480.8|SCTID:75570004|UMLS:C0032310|DOID:10533|ICD9:480.9|ICD10:J12.9 owl:Class UBERON:0007240 biolink:NamedThing tunica adventitia of artery A tunica adventitia that is part of a artery. tmpak2llvmy_mondo_relaxed.owl tunica externa (adventitia)(arteriae)|arterial adventitia owl:Class HGNC:3754 biolink:NamedThing FLNA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002031 biolink:NamedThing epithelium of bronchus An epithelium that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of bronchi|bronchial trunk epithelial tissue|epithelial tissue of bronchus|epithelium of bronchial trunk|bronchus epithelium|epithelial tissue of bronchial trunk|bronchial epithelium|bronchi epithelial tissue|bronchi epithelium|bronchial trunk epithelium|bronchus epithelial tissue|epithelial tissue of bronchi owl:Class CL:0002209 biolink:NamedThing intermediate epitheliocyte An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. tmpak2llvmy_mondo_relaxed.owl undifferentiated columnar cell of tracheobronchial tree FMA:69060 tmeehan 2010-09-02T02:53:59Z cell owl:Class CL:0002584 biolink:NamedThing renal cortical epithelial cell An epithelial cell of the kidney cortex. tmpak2llvmy_mondo_relaxed.owl KUPO:0001016 cell owl:Class GO:0017145 biolink:NamedThing stem cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. tmpak2llvmy_mondo_relaxed.owl stem cell renewal owl:Class MONDO:0002205 biolink:NamedThing vulvar melanoma A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. tmpak2llvmy_mondo_relaxed.owl vulvar melanoma (disease)|mammalian vulva melanoma|vulvar melanoma|melanoma (disease) of mammalian vulva|malignant melanoma of vulva|mammalian vulva melanoma (disease) vulvar melanoma (disease) UMLS:C0241989|HP:0030418|SCTID:254896002|NCIT:C40329|DOID:2093 owl:Class CL:0000878 biolink:NamedThing central nervous system macrophage A tissue-resident macrophage found in the central nervous system. tmpak2llvmy_mondo_relaxed.owl CNS macrophage cell owl:Class CHEBI:15765 biolink:NamedThing L-dopa An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease tmpak2llvmy_mondo_relaxed.owl L-DOPA|beta-(3,4-dihydroxyphenyl)alanine|L-Dopa|3,4-DIHYDROXYPHENYLALANINE|(-)-3-(3,4-dihydroxyphenyl)-L-alanine|L-dopa|(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|3,4-Dihydroxy-L-phenylalanine|L-beta-(3,4-Dihydroxyphenyl)alanine|Dopar|3-Hydroxy-L-tyrosine|levodopum|(-)-dopa|Dihydroxy-L-phenylalanine|beta-(3,4-dihydroxyphenyl)-L-alanine|levodopa owl:Class MONDO:0001704 biolink:NamedThing vaginal glandular neoplasm A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl vaginal glandular tumor|vagina glandular cell neoplasm|vaginal glandular neoplasm DOID:134|UMLS:C1519921|NCIT:C40250 owl:Class UBERON:0000996 biolink:NamedThing vagina A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. tmpak2llvmy_mondo_relaxed.owl distal portion of oviduct|distal oviductal region|vaginae owl:Class MONDO:0016089 biolink:NamedThing infantile Krabbe disease tmpak2llvmy_mondo_relaxed.owl Krabbe disease, classic form|Krabbe disease, early-onset Orphanet:206436|ICD10:E75.2|SCTID:238030005 owl:Class HP:0003593 biolink:NamedThing Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. tmpak2llvmy_mondo_relaxed.owl Onset in infancy|Onset in first year of life|Infantile onset UMLS:C1848924 Onset of signs or symptoms of disease within the first 12 months of life. HP:0003631|HP:0010573|HP:0003594|HP:0003599|HP:0003576|HP:0003579|HP:0003591|HP:0003629|HP:0003600|HP:0003672|HP:0003667 human_phenotype owl:Class UBERON:0001155 biolink:NamedThing colon A portion of the large intestine before it becomes the rectum. In mammals, the colon is the most part of the large intestine, excluding the vermiform appendix, the rectum and the anal canal. tmpak2llvmy_mondo_relaxed.owl posterior intestine|large bowel|hindgut owl:Class GO:2000026 biolink:NamedThing regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of multicellular organismal development. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002036 biolink:NamedThing striated muscle tissue Muscle tissue that contains fibers that are divided by transverse bands into striations. tmpak2llvmy_mondo_relaxed.owl striated muscle owl:Class UBERON:0006339 biolink:NamedThing third ventricle choroid plexus stroma A choroid plexus stroma that is part of a third ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002288 biolink:NamedThing choroid plexus of third ventricle Part of choroid plexus contained in the third ventricle tmpak2llvmy_mondo_relaxed.owl 3rd ventricle choroid plexus|third ventricle choroid plexus|chorioid plexus of cerebral hemisphere of third ventricle|choroid plexus third ventricle|diencephalic choroid plexus|third ventricle chorioid plexus of cerebral hemisphere|chorioid plexus of third ventricle owl:Class UBERON:0010252 biolink:NamedThing 1st arch mandibular mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch mandibular mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005730 biolink:NamedThing Dictyocaulus infectious disease Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation. tmpak2llvmy_mondo_relaxed.owl Dictyocauliasis|infection, Dictyocaulus|Dictyocauliases|Dictyocaulus caused disease or disorder|infections, Dictyocaulus|Dictyocaulus disease or disorder|Dictyocaulus infection EFO:0007235|UMLS:C0012118|MESH:D004022 MONDO:0025190 owl:Class NCBITaxon:29171 biolink:NamedThing Dictyocaulus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0002548 biolink:NamedThing fibroblast of cardiac tissue A fibroblast that is part of the heart. tmpak2llvmy_mondo_relaxed.owl cardiac fibroblast tmeehan 2011-02-28T04:57:44Z cell owl:Class UBERON:0010707 biolink:NamedThing appendage girdle complex An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). tmpak2llvmy_mondo_relaxed.owl appendage-girdle complex|limb|appendage/girdle complex|girdle plus limb or fin|appendage complex owl:Class NCBITaxon:7742 biolink:NamedThing Vertebrata tmpak2llvmy_mondo_relaxed.owl vertebrates|Vertebrata GC_ID:1 ncbi_taxonomy owl:Class GO:0001764 biolink:NamedThing neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. tmpak2llvmy_mondo_relaxed.owl neuron guidance|neuron chemotaxis|neuronal migration owl:Class NCBITaxon:11036 biolink:NamedThing Venezuelan equine encephalitis virus tmpak2llvmy_mondo_relaxed.owl Venezuelan equine encephalomyelitis virus|VEEV|VEE|Venezuelan equine encephalitis VEE|Venezuelan equine encephalitis virus VEE GC_ID:1 ncbi_taxonomy owl:Class HGNC:16876 biolink:NamedThing ARNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000955 biolink:NamedThing brain The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. tmpak2llvmy_mondo_relaxed.owl suprasegmental levels of nervous system|encephalon|suprasegmental structures|the brain|synganglion owl:Class HGNC:11825 biolink:NamedThing NKX2-1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021849 biolink:NamedThing alopecia macular degeneration growth retardation syndrome tmpak2llvmy_mondo_relaxed.owl alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation GARD:0000610 Editor note: check relationshop to EEM https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation owl:Class HP:0001596 biolink:NamedThing Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. tmpak2llvmy_mondo_relaxed.owl Hair loss MSH:D000505|MEDDRA:10001760|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170 HP:0002238|HP:0008068 human_phenotype owl:Class CL:0000018 biolink:NamedThing spermatid A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. tmpak2llvmy_mondo_relaxed.owl nematoblast CALOHA:TS-0950|WBbt:0006800|EMAPA:31486|BTO:0001274|FMA:72294|FBbt:00004942 cell owl:Class GO:0007289 biolink:NamedThing spermatid nucleus differentiation The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization. tmpak2llvmy_mondo_relaxed.owl spermatid nuclear differentiation owl:Class HGNC:13203 biolink:NamedThing AICDA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000540 biolink:NamedThing small intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl carcinoid tumor of the small intestine|carcinoid tumor of small intestine|small intestine neuroendocrine tumor, well differentiated, low grade|small intestine neuroendocrine neoplasm G1|carcinoid tumor of small bowel|small bowel carcinoid tumor|small intestine carcinoid tumor (disease)|small intestine NET G1|small intestine carcinoid tumor|small intestine carcinoid neuroendocrine tumor|small intestinal neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of small intestine|small intestinal carcinoid tumor|small intestinal NET G1|carcinoid tumor of the small bowel UMLS:C0349536|SCTID:276818002|NCIT:C4638|DOID:0050925 owl:Class MONDO:0024314 biolink:NamedThing parasitemia The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl Parasitemias MESH:D018512|UMLS:C0242723 owl:Class UBERON:0000178 biolink:NamedThing blood A fluid that is composed of blood plasma and erythrocytes. tmpak2llvmy_mondo_relaxed.owl whole blood|vertebrate blood|portion of blood owl:Class MONDO:0020541 biolink:NamedThing maligant granulosa cell tumor of ovary An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl malignant ovarian granulosa cell neoplasm|granulosa cell cancer|malignant granulosa cell neoplasm of ovary|malignant ovarian granulosa cell tumor|malignant granulosa cell neoplasm of the ovary|ovarian granulosa cell tumor of adults|malignant granulosa cell tumor of ovary|GCT of the ovary|granulosa cell malignant tumor|granulosa theca cell tumor of the ovary|Maligant granulosa cell tumor of the ovary|GTCT|cancer of granulosa cell|adult ovarian granulosa cell tumor|malignant granulosa cell neoplasm|granulosa theca cell tumor|malignant granulosa cell tumor of the ovary|adult granulosa cell tumor of the ovary NCIT:C8403|ICD10:C56|UMLS:C0346175|GARD:0008642|Orphanet:99915|SCTID:254861002|UMLS:CN207442 https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary owl:Class HP:0003581 biolink:NamedThing Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. tmpak2llvmy_mondo_relaxed.owl Onset in early adulthood|Onset in adulthood|Symptoms begin in adulthood UMLS:C1853562 HP:0003662|HP:0003585|HP:0003598|HP:0003669|HP:0003627 human_phenotype owl:Class GO:0016791 biolink:NamedThing phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpak2llvmy_mondo_relaxed.owl phosphatase|ecto-p-nitrophenyl phosphatase activity|para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|K-pNPPase activity|nitrophenyl phosphatase activity|p-nitrophenylphosphatase activity|phosphoric monoester hydrolase activity|4-nitrophenylphosphate phosphohydrolase activity|p-nitrophenylphosphate phosphohydrolase activity|NPPase activity|PNPPase activity owl:Class UBERON:0004235 biolink:NamedThing mammary gland smooth muscle A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of mammary gland owl:Class MONDO:0003985 biolink:NamedThing chest wall lymphoma A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. tmpak2llvmy_mondo_relaxed.owl lymphoma of the chest wall|lymphoma of chest wall|primary chest wall lymphoma|chest wall lymphoma|chest wall cancer NCIT:C6712|DOID:6758|UMLS:C1332933 owl:Class CL:1001585 biolink:NamedThing appendix glandular cell Glandular cell of appendix epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpak2llvmy_mondo_relaxed.owl vermiform appendix glandular cell|caecal appendix glandular cell|appendix glandular cells|cecal appendix glandular cell CALOHA:TS-1271 owl:Class UBERON:0009697 biolink:NamedThing epithelium of appendix A epithelium that is part of a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendix epithelium|epithelium of vermiform appendix owl:Class MONDO:0013285 biolink:NamedThing immunodeficiency, common variable, 5 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. tmpak2llvmy_mondo_relaxed.owl MS4A1 common variable immunodeficiency|common variable immunodeficiency caused by mutation in MS4A1|immunodeficiency, common variable, type 5|CVID5|immunodeficiency, common variable, 5|antibody deficiency due to CD20 defect OMIM:613495|UMLS:C3150740 owl:Class HGNC:7315 biolink:NamedThing MS4A1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001043 biolink:NamedThing esophagus Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). tmpak2llvmy_mondo_relaxed.owl oesophagus|gullet owl:Class UBERON:0002926 biolink:NamedThing gustatory epithelium A sensory epithelium that is part of a gustatory system. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002921 biolink:NamedThing longitudinal fissure The deep groove which separates the two hemispheres of the vertebrate brain. The falx cerebri, a dural brain covering, lies within the medial longitudinal fissure. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl fissura longitudinalis cerebri|hemispheric sulcus|LF|sagittal fissure|longitudinal sulcus|longitudinal cerebral fissure|interhemispheric fissure|fissura interhemispherica|longitudinal fissure of hemisphere|longitudinal fissure of the cerebrum|fissura longitudinalis magna|fissura longitudinalis cerebrales|medial longitudinal fissure owl:Class UBERON:0000454 biolink:NamedThing cerebral subcortex The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain. tmpak2llvmy_mondo_relaxed.owl cerebral medulla|subcortex owl:Class MONDO:0013383 biolink:NamedThing Hirschsprung disease, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl HSCR3|Hirschsprung disease modifier|GDNF Hirschsprung disease|Hirschsprung disease caused by mutation in GDNF|Hirschsprung disease, susceptibility to, 3|Hirschsprung disease, susceptibility to, type 3|susceptibility to Hirschsprung disease 3|Hirschsprung disease type 3 OMIM:613711|GARD:0002699|MESH:C538121|UMLS:C2931739 https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3 owl:Class HGNC:4232 biolink:NamedThing GDNF tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004647 biolink:NamedThing liver lobule the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein tmpak2llvmy_mondo_relaxed.owl lobuli hepatis|lobuli hepatici|hepatic lobule|lobulus hepaticus|lobules of liver owl:Class CL:0000182 biolink:NamedThing hepatocyte The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0454|FMA:14515|BTO:0000575 Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. cell owl:Class MONDO:0013013 biolink:NamedThing question mark ears, isolated tmpak2llvmy_mondo_relaxed.owl auricular cleft, congenital|QME|question mark ears, isolated|Cosman deformity of the auricle|question MARK ears, isolated|ears, prominent and constricted OMIM:612798 owl:Class UBERON:0008780 biolink:NamedThing inner cell mass derived epiblast An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers tmpak2llvmy_mondo_relaxed.owl embryonic epiblast owl:Class UBERON:0000087 biolink:NamedThing inner cell mass A mass of cells that develop into the body of the embryo and some extraembryonic tissues tmpak2llvmy_mondo_relaxed.owl early embryoblast|ICM|embryoblast|embryoblastus; massa cellularis interna; pluriblastus senior|pluriblast owl:Class UBERON:0001711 biolink:NamedThing eyelid A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane tmpak2llvmy_mondo_relaxed.owl blephara|palpebra|eye lid|palpebrae|blepharon owl:Class Ncd1936029c7a489bb454223d9be768fc biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009779 biolink:NamedThing autosomal recessive omodysplasia Autosomal recessive form of omodysplasia. tmpak2llvmy_mondo_relaxed.owl omodysplasia, generalized form|micromelic dysplasia, congenital, with dislocation of radius|omodysplasia type 1|omodysplasia autosomal recessive|omodysplasia, autosomal recessive|autosomal recessive omodysplasia|OMOD1|micromelic dysplasia-dislocation of radius syndrome|micromelic dysplasia congenita with dislocation of radius|omodysplasia generalized form|omodysplasia 1 SCTID:725166005|OMIM:258315|UMLS:C1850318|Orphanet:93329|GARD:0004076|ICD10:Q78.8 owl:Class HGNC:4454 biolink:NamedThing GPC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0027353 biolink:NamedThing autosomal recessive dyskeratosis congenita 4 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. tmpak2llvmy_mondo_relaxed.owl DKCB4 DOID:0070021 OMIM combines with with DKCA2 owl:Class MONDO:0013521 biolink:NamedThing dyskeratosis congenita, autosomal dominant 2 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. tmpak2llvmy_mondo_relaxed.owl autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal dominant 2|DKCA2|dyskeratosis congenita, autosomal recessive 4|dyskeratosis congenita, autosomal dominant type 2 UMLS:C3151443|OMIM:613989|DOID:0070016 owl:Class MONDO:0003955 biolink:NamedThing juvenile breast papillomatosis A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. tmpak2llvmy_mondo_relaxed.owl juvenile papillomatosis of the breast|juvenile papillomatosis of breast|Swiss cheese disease|breast juvenile papillomatosis|juvenile breast papillomatosis SCTID:708518001|UMLS:C1334303|NCIT:C9503|DOID:6641 owl:Class HP:0003621 biolink:NamedThing Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. tmpak2llvmy_mondo_relaxed.owl Signs and symptoms begin before 15 years of age UMLS:C4025588 HP:0003583|HP:0003670|HP:0003578|HP:0003604|HP:0003592|HP:0003625|HP:0003620|HP:0003659|HP:0003582|HP:0003580|HP:0003619|HP:0003661|HP:0003589 human_phenotype owl:Class MONDO:0024656 biolink:NamedThing colorectal lymphoma An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl large intestine lymphoma|large intestinal lymphoma|lymphoma of large intestine|colorectal lymphoma|primary colorectal lymphoma NCIT:C96498|UMLS:C3272822 owl:Class UBERON:0000059 biolink:NamedThing large intestine A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. tmpak2llvmy_mondo_relaxed.owl intestinum crassum owl:Class UBERON:0015870 biolink:NamedThing lymph node of head A lymph node that is part of a head. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000033 biolink:NamedThing head The head is the anterior-most division of the body [GO]. tmpak2llvmy_mondo_relaxed.owl cephalic area|head (volume)|adult head owl:Class GO:0001696 biolink:NamedThing gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpak2llvmy_mondo_relaxed.owl hydrochloric acid secretion owl:Class UBERON:0001263 biolink:NamedThing pancreatic acinus The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. tmpak2llvmy_mondo_relaxed.owl pancreas acinus|pancreatic acini|pancreatic acinar|acinus pancreaticus owl:Class CL:1000487 biolink:NamedThing smooth muscle cell of prostate A smooth muscle cell that is part of the prostate gland. tmpak2llvmy_mondo_relaxed.owl smooth muscle fiber of prostate FMA:84583 cell owl:Class MONDO:0011852 biolink:NamedThing nonsyndromic congenital nail disorder 8 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. tmpak2llvmy_mondo_relaxed.owl inherited isolated nail anomaly caused by mutation in COL7A1|toenail dystrophy, isolated|nail disorder, nonsyndromic congenital, 8|nonsyndromic congenital nail disorder type 8|nail disorder, nonsyndromic congenital, type 8|NDNC8|COL7A1 inherited isolated nail anomaly OMIM:607523|DOID:0080086|MESH:C564384|UMLS:C1843761 owl:Class HGNC:2214 biolink:NamedThing COL7A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013587 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase H-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl GSD due to lactate dehydrogenase H-subunit deficiency|glycogenosis due to lactate dehydrogenase H-subunit deficiency|LDH-H subunit deficiency|lactate dehydrogenase deficiency type B|LDH deficiency B|LDHBD|lactate dehydrogenase B deficiency GARD:0003161|UMLS:C3279904|Orphanet:284435|OMIM:614128|MESH:C563641|ICD10:E74.0 https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency owl:Class UBERON:0004764 biolink:NamedThing intramembranous bone tissue Bone tissue that forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008970 biolink:NamedThing chondrodysplasia Blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. tmpak2llvmy_mondo_relaxed.owl BLC|chondrodysplasia, Blomstrand type|Blomstrand lethal osteochondrodysplasia|Blomstrand type chondrodysplasia|Blomstrand lethal chondrodysplasia|Blomstrand osteochondrodysplasia|BOCD|Blomstrand's lethal chondrodysplasia|Blomstrand chondrodysplasia GARD:0000914|OMIM:215045|NCIT:C131420|UMLS:C1859148|Orphanet:50945|ICD10:Q78.8|MESH:C537914|DOID:0060387 https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type owl:Class HGNC:9608 biolink:NamedThing PTH1R tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004737 biolink:NamedThing metanephric collecting duct A collecting duct of renal tubule that is part of a metanephros [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl metanephric collecting tubule|collecting duct of metanephros owl:Class GO:1902721 biolink:NamedThing negative regulation of prolactin secretion Any process that stops, prevents or reduces the frequency, rate or extent of prolactin secretion. tmpak2llvmy_mondo_relaxed.owl downregulation of prolactin secretion|inhibition of prolactin secretion|down regulation of prolactin secretion|down-regulation of prolactin secretion owl:Class GO:0070459 biolink:NamedThing prolactin secretion The regulated release of prolactin, a peptide hormone that stimulates lactation, from secretory granules in the anterior pituitary. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014863 biolink:NamedThing macrocephaly, dysmorphic facies, and psychomotor retardation tmpak2llvmy_mondo_relaxed.owl macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation UMLS:C4310766|OMIM:617011 owl:Class HGNC:4867 biolink:NamedThing HERC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9476 biolink:NamedThing HTRA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011998 biolink:NamedThing autosomal dominant slowed nerve conduction velocity Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. tmpak2llvmy_mondo_relaxed.owl slowed nerve conduction velocity, autosomal dominant|SNCV|autosomal dominant slowed nerve conduction velocity OMIM:608236|Orphanet:140481|SCTID:764854006|UMLS:C1842357|MESH:C564269|ICD10:G60.0 owl:Class HGNC:14103 biolink:NamedThing ARHGEF10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010850 biolink:NamedThing Tessier number 4 facial cleft tmpak2llvmy_mondo_relaxed.owl facial clefting, oblique, 1|OBLFC1|oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, type 1 ICD10:Q18.8|OMIM:600251|Orphanet:141258 owl:Class HGNC:29022 biolink:NamedThing SPECC1L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003852 biolink:NamedThing rhombencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. tmpak2llvmy_mondo_relaxed.owl rhombomere neural crest|neural crest hindbrain|rhombencephalic neural crest owl:Class UBERON:0004212 biolink:NamedThing glomerular capillary the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus tmpak2llvmy_mondo_relaxed.owl blood capillary of renal glomerulus|renal glomerulus capillary|capillary vessel of renal glomerulus|capillary of renal glomerulus|glomerular capillary system|renal glomerulus capillary vessel|renal glomerulus blood capillary|glomerular capillaries owl:Class UBERON:0000074 biolink:NamedThing renal glomerulus A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. tmpak2llvmy_mondo_relaxed.owl glomerular tuft|renal glomeruli|Malpighian tuft|glomerulus|glomerular capillary tuft|Malphigian glomerulus|glomerulus renis|Malpighian glomerulus|renal corpuscle owl:Class GO:0070094 biolink:NamedThing positive regulation of glucagon secretion Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. tmpak2llvmy_mondo_relaxed.owl activation of glucagon secretion|stimulation of glucagon secretion|upregulation of glucagon secretion|up regulation of glucagon secretion|up-regulation of glucagon secretion owl:Class GO:0070091 biolink:NamedThing glucagon secretion The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013851 biolink:NamedThing autosomal dominant aplasia and myelodysplasia tmpak2llvmy_mondo_relaxed.owl autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome type 1|bone marrow failure syndrome 1|BMFS1 Orphanet:314399|UMLS:CN203751|ICD10:D61.0|OMIM:614675|UMLS:C3808553 owl:Class HGNC:11303 biolink:NamedThing SRP72 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012758 biolink:NamedThing prostate cancer, hereditary, 13 Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene. tmpak2llvmy_mondo_relaxed.owl MSMB familial prostate cancer|prostate cancer, hereditary, 13|prostate cancer, hereditary, type 13|familial prostate cancer caused by mutation in MSMB|HPC13 OMIM:611928|MESH:C567456|UMLS:C2677821 owl:Class HGNC:7372 biolink:NamedThing MSMB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019918 biolink:NamedThing maternal uniparental disomy of chromosome 21 tmpak2llvmy_mondo_relaxed.owl UPD(21)mat|maternal uniparental disomy of chromosome type 21 Orphanet:96187|ICD10:Q99.8 owl:Class OBO:CHR_9606-chr21 biolink:NamedThing chr21 (Human) tmpak2llvmy_mondo_relaxed.owl 46709983 0 hg38 owl:Class UBERON:0014695 biolink:NamedThing deep auricular artery The deep auricular artery often arises in common with the anterior tympanic artery. It ascends in the substance of the parotid gland, behind the temporomandibular articulation, pierces the cartilaginous or bony wall of the external acoustic meatus, and supplies its cuticular lining and the outer surface of the tympanic membrane. It gives a branch to the temporomandibular joint. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:26873 biolink:NamedThing terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. tmpak2llvmy_mondo_relaxed.owl terpenoides|terpenoide|Terpenoid|terpenoids owl:Class NCIT:C17214 biolink:NamedThing Disease Transmission tmpak2llvmy_mondo_relaxed.owl Transmission owl:Class MONDO:0013244 biolink:NamedThing brachydactyly type E2 Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene. tmpak2llvmy_mondo_relaxed.owl brachydactyly type E2|brachydactyly type E caused by mutation in PTHLH|PTHLH brachydactyly type E|BDE2|brachydactyly, type E2 UMLS:C3150644|DOID:0110976|OMIM:613382 owl:Class HGNC:9607 biolink:NamedThing PTHLH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001792 biolink:NamedThing ganglionic layer of retina Cytoarchitectural layer of retina that contains somata of retinal ganglion cells, bounded by the stratum opticum and the inner plexiform layer tmpak2llvmy_mondo_relaxed.owl GCL layer|retinal ganglion layer|ganglionic cell layer of retina|ganglion cell layer|RGC layer|retinal ganglion cell layer|retina, ganglion cell layer|retina ganglion cell layer|retina ganglion layer|stratum ganglionicum retinae|stratum ganglionicum (retina) owl:Class GO:0042113 biolink:NamedThing B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpak2llvmy_mondo_relaxed.owl B-lymphocyte activation|B lymphocyte activation|B-cell activation owl:Class GO:1902340 biolink:NamedThing negative regulation of chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. tmpak2llvmy_mondo_relaxed.owl negative regulation of eukaryotic chromosome condensation|down regulation of chromosome condensation|downregulation of nuclear chromosome condensation|down-regulation of eukaryotic chromosome condensation|inhibition of nuclear chromosome condensation|inhibition of chromosome condensation|down-regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|downregulation of eukaryotic chromosome condensation|downregulation of chromosome condensation|down regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation|negative regulation of nuclear chromosome condensation owl:Class GO:0030261 biolink:NamedThing chromosome condensation The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpak2llvmy_mondo_relaxed.owl DNA condensation|eukaryotic chromosome condensation|nuclear chromosome condensation owl:Class UBERON:0005259 biolink:NamedThing lower leg mesenchyme Mesenchyme that is part of a developing lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003823 biolink:NamedThing hindlimb zeugopod The middle limb segment of the pelvic free limb, between the autopod and stylopod segments. Includes as parts the hindlimb zeugopodial skeleton, which includes as parts the tibia and fibula, or their cartilage precursors, or evolutionary variants. tmpak2llvmy_mondo_relaxed.owl hindlimb zeugopodium|leg|lower leg|posterior leg region|middle limb segment of hind limb|hind limb middle limb segment|intermediate segment of free lower limb|zeugopod of hind limb|middle limb segment of hindlimb|calf|hind limb zeugopod|regio cruris posterior|hindlimb epipodium|lower extremity zeugopod|posterior region of leg|regio surae|posterior curral region|zeugopod of hindlimb|hindlimb zeugopod|crus|hindlimb zeudopodium|hind limb zeudopodium|shank|posterior part of leg|crus of hindlimb|hind epipodium|hindlimb middle limb segment|sural region|lower extremity middle limb segment|sura|calf of leg owl:Class HGNC:14388 biolink:NamedThing GP6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013620 biolink:NamedThing congenital myasthenic syndrome 16 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in SCN4A|myasthenic syndrome, congenital, 16|myasthenic syndrome, congenital, Acetazolamide-responsive|congenital myasthenic syndrome type 16|myasthenic syndrome, congenital, type 16|CMS16|SCN4A congenital myasthenic syndrome|congenital myasthenic syndrome acetazolamide-responsive DOID:0110682|OMIM:614198 owl:Class HGNC:10591 biolink:NamedThing SCN4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009846 biolink:NamedThing pentosuria Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. tmpak2llvmy_mondo_relaxed.owl pentosuria|L-Xylulosuria|xylitol dehydrogenase deficiency|PNTSU|L-xylulose reductase deficiency|essential pentosuria OMIM:260800|MESH:C536652|SCTID:190764000|GARD:0000418|Orphanet:2843|DOID:0111258|UMLS:C0268162|ICD9:271.8|MedDRA:10064170|ICD10:E74.8 https://rarediseases.info.nih.gov/diseases/418/pentosuria owl:Class HGNC:18985 biolink:NamedThing DCXR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003077 biolink:NamedThing paraxial mesoderm The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO] tmpak2llvmy_mondo_relaxed.owl paraxial mesenchyme|somitic mesoderm|mesoderma paraxiale owl:Class MONDO:0014862 biolink:NamedThing cerebral palsy, spastic quadriplegic, 3 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. tmpak2llvmy_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 3; CPSQ3|spastic quadriplegia caused by mutation in ADD3|ADD3 spastic quadriplegia|CPSQ3|cerebral palsy, spastic quadriplegic, type 3|cerebral palsy, spastic quadriplegic, 3 UMLS:C4310767|OMIM:617008 owl:Class HGNC:245 biolink:NamedThing ADD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005291 biolink:NamedThing brain aneurysm A congenital or acquired aneurysm within the cranium. tmpak2llvmy_mondo_relaxed.owl intracranial aneurysm|brain aneurysm UMLS:C0007766|DOID:10941|EFO:0003870|MESH:D002532 owl:Class UBERON:0007845 biolink:NamedThing regular connective tissue Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071953 biolink:NamedThing elastic fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. tmpak2llvmy_mondo_relaxed.owl elastin fiber|elastic fibre owl:Class MONDO:0004925 biolink:NamedThing chronic dacryocystitis Chronic form of dacryocystitis. tmpak2llvmy_mondo_relaxed.owl dacryocystitis, chronic ICD9:375.42|DOID:9937|UMLS:C0149506|ICD10:H04.41|SCTID:84627005 owl:Class UBERON:0003693 biolink:NamedThing retroperitoneal space Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. tmpak2llvmy_mondo_relaxed.owl spatium retroperitoneale|retroperitoneum owl:Class HGNC:7508 biolink:NamedThing MUC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002792 biolink:NamedThing lumbar spinal cord . tmpak2llvmy_mondo_relaxed.owl spinal cord lumbar segment|pars lumbalis medullae spinalis|lumbar segment of spinal cord|lumbar segments of spinal cord [1-5]|lumbar spinal cord|segmenta lumbalia medullae spinalis [1-5] owl:Class UBERON:0005462 biolink:NamedThing lower back Subdivision of abdominal segment of trunk which in humans is demarcated from the front of the abdomen by the posterior surface of the anterior layer of the thoracolumbar fascia and the anterior surface of the lumbar vertebral column; together with the front of the abdomen, it constitutes the abdomen[Modified from FMA]. tmpak2llvmy_mondo_relaxed.owl lower back|loin|regio lumbalis|back of abdomen|lumbar region|lombus|lumbos|lumbar part of back|abdominal back|posterior part of abdomen|lumbar region of back|dorsum of abdomen owl:Class UBERON:0000017 biolink:NamedThing exocrine pancreas The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. tmpak2llvmy_mondo_relaxed.owl exocrine component of pancreas|exocrine pancreas|exocrine part of pancreas|pars exocrina pancreatis owl:Class UBERON:0002330 biolink:NamedThing exocrine system Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. tmpak2llvmy_mondo_relaxed.owl exocrine glandular system owl:Class MONDO:0004603 biolink:NamedThing collagenopathy tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007103 biolink:NamedThing amyotrophic lateral sclerosis type 1 tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis type 1|amyotrophic lateral sclerosis, sporadic|FALS|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis 1|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, familial|ALS1|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis, sporadic, included|amyotrophic lateral sclerosis 1, autosomal recessive OMIM:105400|MESH:C531617|DOID:0060193|ICD10:G12.2 owl:Class HGNC:11179 biolink:NamedThing SOD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007301 biolink:NamedThing cerebrocostomandibular syndrome Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. tmpak2llvmy_mondo_relaxed.owl CCMS|cerebrocostomandibular syndrome|CEREBROCOSTOMANDIBULAR syndrome|CCM syndrome|rib Gap defects with micrognathia|cerebro-costo-mandibular syndrome ICD10:Q87.8|DOID:0111248|ICD9:759.89|Orphanet:1393|SCTID:51780007|OMIM:117650|GARD:0006026|MESH:C562538|UMLS:C0265342 owl:Class HGNC:11153 biolink:NamedThing SNRPB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001597 biolink:NamedThing submandibular gland disease A disease involving the submandibular gland. tmpak2llvmy_mondo_relaxed.owl disease of submandibular gland|submandibular gland disease or disorder|disorder of submandibular gland|submandibular gland disease|disease or disorder of submandibular gland DOID:12897|MESH:D013364|UMLS:C0038557 owl:Class GO:1903508 biolink:NamedThing positive regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. tmpak2llvmy_mondo_relaxed.owl upregulation of nucleic acid-templated transcription|activation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription|up regulation of nucleic acid-templated transcription owl:Class GO:0097659 biolink:NamedThing nucleic acid-templated transcription The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041284 biolink:NamedThing primary motor cortex epilepsy A epilepsy that involves the primary motor cortex. tmpak2llvmy_mondo_relaxed.owl primary motor cortex epilepsy|Jacksonian epilepsy|epilepsy of primary motor cortex|motor cortex epilepsy SCTID:267592003|UMLS:C0234978 Editor note: TODO. Request Jacksonian seizures from HP? owl:Class MONDO:0014274 biolink:NamedThing L-ferritin deficiency tmpak2llvmy_mondo_relaxed.owl LFTD|L-ferritin deficiency UMLS:C3810090|OMIM:615604|Orphanet:440731 owl:Class HGNC:3999 biolink:NamedThing FTL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000251 biolink:NamedThing diarrheal disease secondary to altered bowel motility A diarrhea that results from either increased or decreased motility in the bowel. tmpak2llvmy_mondo_relaxed.owl motility-related diarrhea|diarrhea secondary to altered bowel motility owl:Class HP:0030895 biolink:NamedThing Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl Abnormal GI motility human_phenotype owl:Class MONDO:0013273 biolink:NamedThing chromosome 16p13.3 duplication syndrome 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. tmpak2llvmy_mondo_relaxed.owl 16p13.3 microduplication syndrome|16p13.3 duplication|dup(16)(p13.3)|chromosome 16p13.3 duplication|interstitial 16p13.3 duplication|telomeric duplication 16p|trisomy 16pter|chromosome 16p13.3 duplication syndrome|distal duplication 16p|distal trisomy 16p UMLS:C4518796|GARD:0010755|UMLS:C3150708|SCTID:733473000|OMIM:613458|DOID:0060431|Orphanet:96078|ICD10:Q92.3 https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication owl:Class OBO:CHR_9606-chr16p13.3 biolink:NamedThing chr16p13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 7800000 0 hg38 owl:Class UBERON:0015042 biolink:NamedThing manual digit metacarpus endochondral element A manual digit metacarpus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit metacarpus element|manual digit metacarpus skeletal element owl:Class UBERON:0004453 biolink:NamedThing metacarpus region A metapodium region that is part of a manus. tmpak2llvmy_mondo_relaxed.owl distal segment of hand proper|metacarpus|metacarpal part of hand|metacarpal part of manus|forelimb cannon region|metacarpal region|forelimb equine cannon region owl:Class MONDO:0005186 biolink:NamedThing cocaine dependence A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance. tmpak2llvmy_mondo_relaxed.owl cocaine addiction DOID:9975|ICD10:F14.2|SCTID:31956009|EFO:0002610|ICD9:304.20|NCIT:C34492|ICD9:304.2 owl:Class CHEBI:27958 biolink:NamedThing cocaine A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca. tmpak2llvmy_mondo_relaxed.owl COCAINE|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|Neurocaine|beta-Cocain|l-cocaine|methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|l-Cocain|Benzoylmethylecgonine|(-)-cocaine|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|Cocain|Kokain|Cocaine|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|methyl benzoylecgonine|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)|Cocaina|cocainum owl:Class MONDO:0014265 biolink:NamedThing Alzheimer disease 18 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease type 18|AD18|ADAM10 Alzheimer disease|Alzheimer disease type 18|Alzheimer's disease 18|Alzheimer disease 18, late-onset|Alzheimer disease caused by mutation in ADAM10|Alzheimer disease 18 DOID:0110050|UMLS:C3810041|OMIM:615590 owl:Class HGNC:188 biolink:NamedThing ADAM10 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004490 biolink:NamedThing cardiac muscle tissue of atrium A portion of cardiac muscle tissue that is part of an atrium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac atrium muscle|atrial heart muscle|atrial cardiac muscle tissue|atrial myocardium owl:Class UBERON:0002081 biolink:NamedThing cardiac atrium Cardiac chamber in which blood enters the heart. tmpak2llvmy_mondo_relaxed.owl cardiac atria|atria|atrium of heart|atrial tissue|atrium|heart atrium owl:Class GO:0000981 biolink:NamedThing DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific DNA binding|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity|transcription factor|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity owl:Class GO:0000977 biolink:NamedThing RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl RNA polymerase II regulatory region DNA binding owl:Class MONDO:0009361 biolink:NamedThing autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius tmpak2llvmy_mondo_relaxed.owl hydrocephalus due to congenital stenosis of aqueduct of Sylvius|aqueductal stenosis UMLS:CN074258|OMIM:236635 owl:Class HP:0002410 biolink:NamedThing Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. tmpak2llvmy_mondo_relaxed.owl Narrowing of aqueduct of Sylvius|Aqueduct stenosis|Aqueduct of Sylvius stenosis UMLS:C2936786|MSH:D006849 human_phenotype owl:Class MONDO:0012540 biolink:NamedThing age related macular degeneration 4 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. tmpak2llvmy_mondo_relaxed.owl CFH age-related macular degeneration|macular degeneration, age-related, 4|macular Degeneration, age-related, type 4|age related macular degeneration type 4|ARMD4|age-related macular degeneration caused by mutation in CFH OMIM:610698|DOID:0110017|MESH:C565196|UMLS:C1853147 owl:Class HGNC:4883 biolink:NamedThing CFH tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11908 biolink:NamedThing Human T-cell leukemia virus type I tmpak2llvmy_mondo_relaxed.owl Human T-cell lymphotropic virus type I|Human adult T-cell leukemia virus|Human T-cell lymphotropic virus 1|Human T-lymphotropic virus 1|human T cell leukemia virus type 1 HTLV-1|Human lymphotropic virus type I|HTLV-I|human T-lymphotropic virus type I HTLV-I|HTLV-1|human T-cell leukemia virus type 1 HTLV-1|Human T-cell leukemia virus type 1|Human T-cell leukemia virus type I HTLV-I|human T cell lymphotropic virus type I HTLV-I|human T-cell leukemia/lymphoma virus type I HTLV-I|Human T-cell lymphotropic virus type 1|Human T cell leukemia virus type 1|human T-cell lymphoma/leukemia virus type I HTLV-I|human T-cell lymphotropic virus type 1, HTLV-1|Human T-lymphotropic virus type 1|human T-cell leukemia/lymphotropic virus type I HTLV-I|human T-lymphotropic virus type 1 HTLV-1|human T-cell leukemia virus I|Human T-cell leukemia virus-1 GC_ID:1 NCBITaxon:28331 ncbi_taxonomy owl:Class MONDO:0011994 biolink:NamedThing autosomal dominant nonsyndromic deafness 41 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 41|deafness, autosomal dominant type 41|DFNA41|autosomal dominant deafness 41|P2RX2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|deafness, autosomal dominant 41 DOID:0110567|UMLS:C1842371|ICD10:H90.3|OMIM:608224|MESH:C564272 owl:Class HGNC:15459 biolink:NamedThing P2RX2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002077 biolink:NamedThing cortex of hair A cortex that is part of a hair [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl coat hair cortex|coat/hair cortex|cortex of coat/hair|hair cortex|cortex of coat hair owl:Class UBERON:0002074 biolink:NamedThing hair shaft The main part of the hair which is composed of trichocytes and is divided into the cortex and medulla. tmpak2llvmy_mondo_relaxed.owl scapus pili|shaft of hair owl:Class UBERON:0002414 biolink:NamedThing lumbar vertebra Large vertebra of the movable part of the vertebral column, characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045321 biolink:NamedThing leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. tmpak2llvmy_mondo_relaxed.owl immune cell activation|leucocyte activation owl:Class MONDO:0100260 biolink:NamedThing peroxisome biogenesis disorder due to PEX2 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene. tmpak2llvmy_mondo_relaxed.owl PEX2 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX2 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:9717 biolink:NamedThing PEX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014575 biolink:NamedThing Singleton-Merten syndrome 2 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. tmpak2llvmy_mondo_relaxed.owl singleton-Merten syndrome type 2|singleton-Merten syndrome 2|singleton-Merten dysplasia caused by mutation in DDX58|SGMRT2|DDX58 singleton-Merten dysplasia UMLS:C4225380|OMIM:616298 owl:Class HGNC:19102 biolink:NamedThing DDX58 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013123 biolink:NamedThing atrial septal defect 6 Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in TLL1|atrial heart septal defect type 6|ASD6|TLL1 atrial heart septal defect|atrial septal defect type 6|atrial septal defect 6 DOID:0110111|ICD10:Q21.1|MESH:C567764|OMIM:613087|UMLS:C2751315 owl:Class GO:0005575 biolink:NamedThing cellular_component A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). tmpak2llvmy_mondo_relaxed.owl subcellular entity|cell or subcellular entity|cellular component owl:Class UBERON:0000158 biolink:NamedThing membranous layer tmpak2llvmy_mondo_relaxed.owl membrane|membranous organ component owl:Class UBERON:0001421 biolink:NamedThing pectoral girdle region An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. tmpak2llvmy_mondo_relaxed.owl pectoral region|pectoral girdle|shoulder girdle|cingulum membri superioris|girdle - pectoral|upper limb girdle owl:Class MONDO:0005289 biolink:NamedThing paranasal sinus neoplasm A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl neoplasm of paranasal sinus|tumor of the paranasal sinus|tumor of accessory sinus|tumor of the accessory sinus|neoplasm of the accessory sinus|accessory sinus tumor|paranasal sinus tumor|accessory sinus neoplasm|paranasal sinus neoplasm|neoplasm of the paranasal sinus|paranasal sinus neoplasms|tumor of paranasal sinus|neoplasm of accessory sinus|paranasal sinus neoplasm (disease) paranasal sinus neoplasm (disease) DOID:1350|UMLS:C0030470|NCIT:C7488|HP:0030072|EFO:0003866|SCTID:126675008 owl:Class UBERON:0001825 biolink:NamedThing paranasal sinus the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity tmpak2llvmy_mondo_relaxed.owl sinus|nasal sinus owl:Class CL:0000157 biolink:NamedThing surfactant secreting cell A cell that specializes in secretion of surfactant in the alveoli of the lung. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0061702 biolink:NamedThing inflammasome complex A cytosolic protein complex that is capable of activating caspase-1. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:5101463 biolink:NamedThing manual digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 1 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl manual digit 1|manual digit 1 skeleton|manual digit I digitopodial skeleton owl:Class CL:1001434 biolink:NamedThing olfactory bulb interneuron A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons tmpak2llvmy_mondo_relaxed.owl cl owl:Class UBERON:0002133 biolink:NamedThing atrioventricular valve A cardial valve in the atrioventricular region that separates the atrium from the ventricle and prevent backflow from the ventricles into the atria during systole. tmpak2llvmy_mondo_relaxed.owl atrio-ventricular valve|AV valve owl:Class MONDO:0021427 biolink:NamedThing squamous cell carcinoma of lip A squamous cell carcinoma that involves the lip. tmpak2llvmy_mondo_relaxed.owl scc of Lip|scc of the Lip|squamous cell carcinoma of the Lip|lip squamous cell carcinoma|lip scc UMLS:C0280302|NCIT:C4042|SCTID:255071008|Orphanet:502366 owl:Class UBERON:0000365 biolink:NamedThing urothelium An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. tmpak2llvmy_mondo_relaxed.owl uroepithelium|transitional epithelium|epithelium transitionale owl:Class MONDO:0042495 biolink:NamedThing arteriosclerotic retinopathy A arteriosclerosis disorder that involves the retina. tmpak2llvmy_mondo_relaxed.owl arteriosclerosis disorder of retina|retina arteriosclerosis disorder|arteriosclerosis, retina|arteriosclerotic retinopathy|retinal arteriosclerosis|retinopathy, arteriosclerotic GARD:0000113|UMLS:C0339478|ICD9:440.8|SCTID:95691008 owl:Class CHEBI:27690 biolink:NamedThing acetazolamide tmpak2llvmy_mondo_relaxed.owl Acetazolamide|Diamox|2-acetylamino-1,3,4-thiadiazole-5-sulfonamide|acetazolamida|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|acetazolamidum|Diluran|Defiltran|5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|Glaupax|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|acetazolamide|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|Diacarb owl:Class OBO:CHR_9606-chr3 biolink:NamedThing chr3 (Human) tmpak2llvmy_mondo_relaxed.owl 198295559 0 hg38 owl:Class UBERON:5003631 biolink:NamedThing pedal digit 1 plus metapodial segment A subdivision of the autopod consisting of pedal digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl pedal digit 1 ( phalanges plus metapodial) plus soft tissue|pedal digit 1 ray|pedal digit I plus metapodial segment|pedal digit 1 digitopodial subdivision|pedal digit 1 owl:Class UBERON:0007269 biolink:NamedThing pectoral appendage musculature Any collection of muscles that is part of a pectoral appendage. tmpak2llvmy_mondo_relaxed.owl pectoral fin muscle|pectoral fin musculature owl:Class UBERON:0004710 biolink:NamedThing pectoral appendage Paired appendage that consists of the anterior appendicular skeleton and associated soft and hard tissues, but excludes the pectoral girdle and its associated soft and hard tissues. tmpak2llvmy_mondo_relaxed.owl anterior appendage|forelimb - pectoral fin|anterior paired appendage|forelimb or pectoral fin|anterior limb/fin|forelimb/pectoral fin|pectoral limb/fin owl:Class UBERON:0019311 biolink:NamedThing root of olfactory nerve The initial segment of an olfactory nerve, leaving the central nervous system. tmpak2llvmy_mondo_relaxed.owl olfactory nerve root owl:Class CL:0000706 biolink:NamedThing choroid plexus epithelial cell Specialized ependymal cell that produces the cerebrospinal fluid from the blood and secretes it into the lumen of the brain and spinal chord. tmpak2llvmy_mondo_relaxed.owl epithelial cell of choroid plexus FMA:70549 CL:1000430 cell owl:Class GO:0005615 biolink:NamedThing extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. tmpak2llvmy_mondo_relaxed.owl intercellular space owl:Class GO:0005576 biolink:NamedThing extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. tmpak2llvmy_mondo_relaxed.owl extracellular owl:Class HP:0008734 biolink:NamedThing Decreased testicular size Reduced volume of the testicle (the male gonad). tmpak2llvmy_mondo_relaxed.owl Decreased testicular size|Hypoplastic testes|Testicular hypoplasia|Small testis|Small testes UMLS:C0241355|SNOMEDCT_US:276411001 HP:0000043 human_phenotype owl:Class CHEBI:16150 biolink:NamedThing benzoate The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1. tmpak2llvmy_mondo_relaxed.owl Benzeneformate|Phenylcarboxylate|benzoic acid, ion(1-)|Benzenecarboxylate|Benzenemethanoate|benzoate|Phenylformate|benzoate anion owl:Class CHEBI:76967 biolink:NamedThing human xenobiotic metabolite Any human metabolite produced by metabolism of a xenobiotic compound in humans. tmpak2llvmy_mondo_relaxed.owl human xenobiotic metabolites owl:Class UBERON:0001794 biolink:NamedThing inner limiting layer of retina The row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous[MP]. tmpak2llvmy_mondo_relaxed.owl stratum limitans internum retinae|internal limiting membrane of retina|inner limiting membranes|ILM|inner limiting membrane of retina|retina internal limiting lamina|internal limiting lamina of retina|retina inner limiting membrane|inner limiting membrane owl:Class Nf2ecd485bb674956a24d91bcf8508d25 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0013235 biolink:NamedThing ventrum A major organism subdivisionthat is the entire part of an anatomical structure ventral to a horizontal plane and bounded on one side by the same horizontal plane. tmpak2llvmy_mondo_relaxed.owl front|front of body proper|ventral region of organism|ventral region|ventral part of organism owl:Class ENVO:01000179 biolink:NamedThing desert biome A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class PCO:0000002 biolink:NamedThing ecological community A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000130 biolink:NamedThing 36-year-old human stage Adult stage that refers to an adult who is over 36 and under 37. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016948 biolink:NamedThing partial duplication of the short arm of chromosome 11 tmpak2llvmy_mondo_relaxed.owl partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial duplication of the short arm of chromosome type 11|partial trisomy of chromosome 11p Orphanet:262785 owl:Class OBO:CHR_9606-chr11p biolink:NamedThing chr11p (Human) tmpak2llvmy_mondo_relaxed.owl 53400000 0 hg38 owl:Class MONDO:0000004 biolink:NamedThing adrenocortical insufficiency An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). tmpak2llvmy_mondo_relaxed.owl adrenocortical insufficiency|hypocortisolemia|adrenal cortical insufficiency|adrenal insufficiency|adrenal cortical hypofunction|corticoadrenal insufficiency|adrenal gland insufficiency|hypocortisolism ICD9:255.41|NCIT:C26691|ICD9:255.4|UMLS:C0405580|MESH:D000309|DOID:10493|SCTID:386584007|GARD:0006722 hypoadrenalism owl:Class GO:0004332 biolink:NamedThing fructose-bisphosphate aldolase activity Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. tmpak2llvmy_mondo_relaxed.owl zymohexase activity|diphosphofructose aldolase activity|fructose 1,6-diphosphate aldolase activity|fructose 1-phosphate aldolase activity|SMALDO|aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|1,6-diphosphofructose aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|fructose 1-monophosphate aldolase activity|fructoaldolase activity|fructose diphosphate aldolase activity|phosphofructoaldolase activity|ketose 1-phosphate aldolase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity owl:Class MONDO:0014741 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation tmpak2llvmy_mondo_relaxed.owl Desanto-Shinawi syndrome|DESSH|DESANTO-SHINAWI syndrome|chromosome 10P12-p11 deletion syndrome|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities UMLS:CN242167|OMIM:616708|UMLS:C4225239|Orphanet:466950 owl:Class HGNC:17327 biolink:NamedThing WAC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010894 biolink:NamedThing maturity-onset diabetes of the young type 3 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. tmpak2llvmy_mondo_relaxed.owl maturity-onset diabetes of the young, type 3|HNF1A-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|MODY3|diabetes mellitus MODY type 3|HNF1A maturity-onset diabetes of the young (disease)|MODY type 3|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes|MODY, type 3|maturity-onset diabetes of the young type 3|MODY hepatocyte nuclear factor-1-alpha related|type 3 maturity-onset diabetes of the young SCTID:609570008|DOID:0111102|UMLS:C1838100|NCIT:C129742|OMIM:600496|GARD:0010658|MESH:C563933 https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 owl:Class HGNC:11621 biolink:NamedThing HNF1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012977 biolink:NamedThing autosomal recessive nonsyndromic deafness 1B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 1B|GJB6 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 1B|autosomal recessive nonsyndromic deafness caused by mutation in GJB6|DFNB1B|autosomal recessive nonsyndromic deafness type 1B|Autosomal recessive deafness type 1B|autosomal recessive deafness 1B UMLS:CN674504|GTR:AN1075764|MESH:C567213|ICD10:H90.3|DOID:0110476|OMIM:612645|UMLS:C2675235 owl:Class HGNC:4288 biolink:NamedThing GJB6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012453 biolink:NamedThing hereditary spastic paraplegia 31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia type 31|REEP1 hereditary spastic paraplegia|SPG31|spastic paraplegia 31|hereditary spastic paraplegia type 31|spastic paraplegia 31, autosomal dominant|autosomal dominant spastic paraplegia 31|hereditary spastic paraplegia caused by mutation in REEP1 DOID:0110782|Orphanet:101011|OMIM:610250|SCTID:763068005|GARD:0010817|UMLS:C1853247|MESH:C565210|ICD10:G11.4 owl:Class HGNC:25786 biolink:NamedThing REEP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001575 biolink:NamedThing chronic gonococcal salpingitis Chronic form of gonococcal salpingitis. tmpak2llvmy_mondo_relaxed.owl gonococcal salpingitis|gonococcal salpingitis, chronic DOID:12718|UMLS:C0153208|SCTID:53529004|ICD9:098.37 owl:Class MONDO:0001356 biolink:NamedThing iron deficiency anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. tmpak2llvmy_mondo_relaxed.owl iron-deficiency anemia SCTID:87522002|NCIT:C84484|DOID:11758|ICD9:280.9|UMLS:C0162316|ICD9:280.8|MESH:D018798 owl:Class UBERON:0004716 biolink:NamedThing conceptus The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. tmpak2llvmy_mondo_relaxed.owl embryo plus adnexa owl:Class CL:0000365 biolink:NamedThing animal zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. tmpak2llvmy_mondo_relaxed.owl zygote FMA:72395|BTO:0000854|EHDAA2:0004546 cell owl:Class MONDO:0014311 biolink:NamedThing autosomal recessive spinocerebellar ataxia 15 Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia type 15|spinocerebellar ataxia, autosomal recessive 15|Salih ataxia|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|SCAR15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN|spinocerebellar ataxia, autosomal recessive type 15|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN OMIM:615705|Orphanet:404499|DOID:0080057|UMLS:C3810326|ICD10:G11.1 owl:Class HGNC:28991 biolink:NamedThing RUBCN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013214 biolink:NamedThing bile acid malabsorption, primary tmpak2llvmy_mondo_relaxed.owl PBAM|bile acid malabsorption, primary OMIM:613291|UMLS:C2750087|MESH:C567652 owl:Class HGNC:10906 biolink:NamedThing SLC10A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015364 biolink:NamedThing hereditary sensory and autonomic neuropathy An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl CIP|hereditary sensory autonomic neuropathy|congenital pain insensitivity|indifference to pain, Congenital, autosomal recessive|hereditary sensory peripheral neuropathy|hereditary sensory neuropathy|hereditary sensory and autonomic neuropathy|congenital insensitivity to pain|HSAN ICD9:356.2|UMLS:C0027889|DOID:0050548|ICD10:G60.8|Orphanet:140471|SCTID:11442006|OMIMPS:162400|MESH:D009477|GARD:0012688|NCIT:C125386 familial dysautonomia, type II https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 owl:Class MONDO:0010503 biolink:NamedThing Bartter disease type 5 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. tmpak2llvmy_mondo_relaxed.owl Bartter syndrome caused by mutation in MAGED2|MAGED2 Bartter syndrome|BARTS5|Bartter syndrome, type 5, antenatal, transient UMLS:C4310820|ICD10:E26.8|OMIM:300971|DOID:0110147 owl:Class HGNC:16353 biolink:NamedThing MAGED2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000792 biolink:NamedThing heterochromatin A compact and highly condensed form of chromatin. tmpak2llvmy_mondo_relaxed.owl nuclear heterochromatin owl:Class MONDO:0013979 biolink:NamedThing primary ciliary dyskinesia 19 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. tmpak2llvmy_mondo_relaxed.owl LRRC6 primary ciliary dyskinesia|ciliary dyskinesia, primary, 19|primary ciliary dyskinesia 19|ciliary dyskinesia, primary, type 19|primary ciliary dyskinesia type 19|CILD19|primary ciliary dyskinesia caused by mutation in LRRC6|primary ciliary dyskinesia 19 with or without situs inversus|ciliary dyskinesia, primary, 19, with or without situs inversus OMIM:614935|ICD10:Q34.8|UMLS:C3543826|DOID:0110608 owl:Class HGNC:16725 biolink:NamedThing DNAAF11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000975 biolink:NamedThing sternum A midventral endochondral skeletal element which represents the origin site of the pectoral muscles[PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl vertebrate sternum|breastbone owl:Class UBERON:0003252 biolink:NamedThing thoracic rib cage Subdivision of skeletal system that consists of all ribs in an organism connected to the sternum and the vertebrae. Some vertebrates have abdominal ribs (gastrialia), not connected to the vertebrate - these are not considered part of the rib case. tmpak2llvmy_mondo_relaxed.owl thoracic cage|rib cage|cavea thoracis owl:Class MONDO:0015766 biolink:NamedThing cholera Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. tmpak2llvmy_mondo_relaxed.owl Vibrio cholerae infectious disease|cholera - Vibrio cholerae|Vibrio cholerae disease or disorder|cholera due to Vibrio cholerae|Vibrio cholerae|Vibrio cholerae infection|Vibrio cholerae caused disease or disorder GARD:0006043|UMLS:C0008354|MESH:D002771|ICD10:A00.1|ICD9:001.9|ICD10:A00|ICD10:A00.9|Orphanet:173|SCTID:63650001|ICD9:001.0|ICD10:A00.0|DOID:1498|ICD9:001|MedDRA:10008631 https://rarediseases.info.nih.gov/diseases/6043/cholera owl:Class MONDO:0003011 biolink:NamedThing mucinous tubular and spindle renal cell carcinoma A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. tmpak2llvmy_mondo_relaxed.owl carcinoma, renal, tubular, malignant|mucinous tubular and spindle cell renal carcinoma|renal mucinous tubular spindle cell carcinoma|mucinous tubular and spindle cell carcinoma of the kidney Orphanet:319322|ONCOTREE:MTSCC|UMLS:C1513719|UMLS:CN203939|SCTID:764990003|NCIT:C39807|DOID:4472|ICDO:0000/0|ICD10:C64 owl:Class UBERON:0001231 biolink:NamedThing nephron tubule An epithelial tube that is part of the nephron, the functional part of the kidney. tmpak2llvmy_mondo_relaxed.owl tubulus renalis|kidney tubule|renal tubule|uriniferous tubule owl:Class HGNC:39080 biolink:NamedThing KCNJ18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014209 biolink:NamedThing early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. tmpak2llvmy_mondo_relaxed.owl SPG79|neurodegeneration with optic atrophy, childhood-onset|NDGOA|spastic paraplegia 79, autosomal recessive ICD10:G31.8|UMLS:C3809665|OMIM:615491|Orphanet:352654 owl:Class UBERON:0001476 biolink:NamedThing deltoid A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA,generalized] tmpak2llvmy_mondo_relaxed.owl musculus deltoideus|common shoulder muscle|deltoideus muscle|deltoid muscle|m. deltoideus|deltoideus owl:Class MONDO:0012584 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 9 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene. tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 9|susceptibility to systemic lupus erythematosus 9|SLEB9|systemic lupus erythematosus, susceptibility to, type 9|systemic lupus erythematosus (disease) caused by mutation in CR2|CR2 systemic lupus erythematosus (disease) OMIM:610927 owl:Class HGNC:2336 biolink:NamedThing CR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005483 biolink:NamedThing chemotherapy-induced alopecia Hair loss as a result of chemotherapy treatment. tmpak2llvmy_mondo_relaxed.owl EFO:0005400 owl:Class MAXO:0000647 biolink:NamedThing chemotherapy The use of synthetic or naturally-occurring chemicals for the treatment of diseases. tmpak2llvmy_mondo_relaxed.owl treatment with a chemotherapeutic agent|chemotherapeutic drug treatment|chemotherapeutic agent treatment|treatment with a chemotherapeutic medication|treatment with a chemotherapeutic drug owl:Class HGNC:11449 biolink:NamedThing SUCLG1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007811 biolink:NamedThing craniocervical region The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. tmpak2llvmy_mondo_relaxed.owl cephalic area|cephalic part of animal|head or neck|head and neck|cephalic region owl:Class UBERON:0004314 biolink:NamedThing distal phalanx of manual digit 5 A distal phalanx that is part of a hand digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fifth distal phalanx of hand|distal phalanx of little finger|distal phalanx of manual digit V|distal phalanx of fifth finger|distal phalanx of fifth digit of hand|fifth finger distal phalanx|hand digit 5 distal phalanx|5th finger distal phalanx|5th digit of hand distal phalanx|distal phalanx of 5th digit of hand|distal phalanx of 5th finger owl:Class UBERON:5103625 biolink:NamedThing manual digit 5 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 5 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl manual digit 5|manual digit V digitopodial skeleton|manual digit 5 skeleton owl:Class MONDO:0014484 biolink:NamedThing microcephaly 12, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. tmpak2llvmy_mondo_relaxed.owl CDK6 autosomal recessive primary microcephaly|MCPH12|autosomal recessive primary microcephaly caused by mutation in CDK6|microcephaly 12, primary, autosomal recessive UMLS:C4015156|OMIM:616080|DOID:0070284 owl:Class HGNC:1777 biolink:NamedThing CDK6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036295 biolink:NamedThing renal pelvis/ureter The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. tmpak2llvmy_mondo_relaxed.owl renal pelvis plus ureter|renal pelvis and ureter owl:Class CL:0000895 biolink:NamedThing naive thymus-derived CD4-positive, alpha-beta T cell An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. tmpak2llvmy_mondo_relaxed.owl naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-cell|Th0|naive CD4+ T cell|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|T.4Nve.Sp These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. cell owl:Class CL:0002436 biolink:NamedThing mature CD4 single-positive thymocyte A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpak2llvmy_mondo_relaxed.owl T.4SP24-.Th tmeehan 2010-10-21T03:31:19Z cell owl:Class MONDO:0014194 biolink:NamedThing mitochondrial complex III deficiency nuclear type 6 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial Complex 3 deficiency, nuclear type 6|MC3DN6|mitochondrial complex III deficiency caused by mutation in CYC1|CYC1 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 6 DOID:0080115|UMLS:C3809553|OMIM:615453 owl:Class HGNC:2579 biolink:NamedThing CYC1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:18049 biolink:NamedThing piperidine An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine. tmpak2llvmy_mondo_relaxed.owl azinane|pip|Azacyclohexane|Hexahydropyridine|Piperidine|cyclopentimine|Piperidin|pentamethyleneimine|perhydropyridine|pentamethylenimine|piperidine|hexazane|pentamethyleneamine|cypentil owl:Class CHEBI:76924 biolink:NamedThing plant metabolite Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. tmpak2llvmy_mondo_relaxed.owl plant metabolites|plant secondary metabolites owl:Class PATO:0001475 biolink:NamedThing increased position A position which is relatively high. tmpak2llvmy_mondo_relaxed.owl high position owl:Class PATO:0000461 biolink:NamedThing normal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. tmpak2llvmy_mondo_relaxed.owl average owl:Class UBERON:0030276 biolink:NamedThing lumbar spinal cord ventral horn tmpak2llvmy_mondo_relaxed.owl lumbar spinal cord ventral horn|lumbar spinal cord anterior horn owl:Class UBERON:0029636 biolink:NamedThing lumbar spinal cord gray matter tmpak2llvmy_mondo_relaxed.owl lumbar spinal cord gray matter owl:Class HGNC:10805 biolink:NamedThing SGCA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003383 biolink:NamedThing cardiac muscle tissue of interventricular septum A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac muscle of interventricular septum|interventricular septum heart muscle|interventricular septum muscle|interventricular septum cardiac muscle|cardiac muscle tissue of interventricular septum|interventricular septum myocardium owl:Class GO:0045598 biolink:NamedThing regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of adipocyte differentiation|regulation of adipocyte cell differentiation owl:Class GO:0045444 biolink:NamedThing fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. tmpak2llvmy_mondo_relaxed.owl adipocyte cell differentiation|adipose cell differentiation|adipocyte differentiation|adipogenesis owl:Class UBERON:0007647 biolink:NamedThing ectomeninx The outermost layer of the mesenchymal capsule that surrounds the developing brain, of mixed paraxial mesoderm and neural crest origin. The ectomeninx forms the dura mater (both inner layer and outer chondrogenic layer). tmpak2llvmy_mondo_relaxed.owl future dura mater owl:Class CL:1000281 biolink:NamedThing smooth muscle cell of cecum A smooth muscle cell that is part of the cecum. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of cecum|smooth muscle fiber of cecum FMA:15681 cell owl:Class UBERON:0001153 biolink:NamedThing caecum A pouch in the digestive tract that connects the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction. tmpak2llvmy_mondo_relaxed.owl blindgut|caecum|intestinum caecum|ceca|intestinum crassum caecum|caeca|intestinum crassum cecum|cecum|blind intestine owl:Class UBERON:0011856 biolink:NamedThing acinus of lactiferous gland An acinus that is part of a mammary gland. tmpak2llvmy_mondo_relaxed.owl lactiferous gland acinus owl:Class UBERON:0004902 biolink:NamedThing urogenital sinus epithelium The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra tmpak2llvmy_mondo_relaxed.owl epithelium of urogenital sinus|UGE owl:Class HGNC:1388 biolink:NamedThing CACNA1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004999 biolink:NamedThing mucosa of biliary tree A mucosa that is part of a biliary tree [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of biliary tract|biliary tree organ mucosa|mucous membrane of biliary tree|organ mucosa of biliary tract|biliary tract mucosa of organ|biliary tract organ mucosa|mucosa of biliary tract|mucosa of organ of biliary tract|biliary tract mucosa|organ mucosa of biliary tree|biliary tree mucosa|biliary tract mucous membrane|mucosa of organ of biliary tree|biliary tree mucosa of organ|biliary tree mucous membrane owl:Class MONDO:0100358 biolink:NamedThing ectodermal dysplasia WNT10A related tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia WNT10A related http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class HGNC:13829 biolink:NamedThing WNT10A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001535 biolink:NamedThing vertebral artery the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck tmpak2llvmy_mondo_relaxed.owl vertebral arteries|arteria vertebralis owl:Class MONDO:0006250 biolink:NamedThing ileal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl ileum neuroendocrine neoplasm G1|carcinoid tumor of ileum|ileum carcinoid tumor (disease)|ileal neuroendocrine tumor G1|ileal NET G1|carcinoid tumor of the ileum|ileum NET G1|ileum carcinoid tumor|ileal carcinoid tumor|grade 1 neuroendocrine neoplasm of ileum|ileum neuroendocrine tumor, well differentiated, low grade SCTID:425318003|ICD9:209.03|UMLS:C0745216|NCIT:C4935|EFO:1000300 MONDO:0021536 owl:Class MONDO:0013118 biolink:NamedThing Nijmegen breakage syndrome-like disorder Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. tmpak2llvmy_mondo_relaxed.owl microcephaly and spontaneous chromosome instability without immunodeficiency|RAD50 deficiency|Nijmegen breakage syndrome-like disorder|microcephaly and chromosomal instability without immunodeficiency|NBSLD|NBs-like disorder|Rad50 deficiency UMLS:C2751318|OMIM:613078|Orphanet:240760|SCTID:766753005|NCIT:C153178|MESH:C567767 owl:Class MONDO:0013811 biolink:NamedThing combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 9|MRPL3 combined oxidative phosphorylation deficiency|COXPD9|combined oxidative phosphorylation deficiency type 9|combined oxidative phosphorylation deficiency caused by mutation in MRPL3 DOID:0111472|UMLS:C3281234|Orphanet:319509|SCTID:763209008|ICD10:I42.2|OMIM:614582 owl:Class HGNC:10379 biolink:NamedThing MRPL3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004252 biolink:NamedThing hindlimb stylopod muscle Any muscle organ that is part of a hindlimb stylopod (upper leg)[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle of thigh|thigh muscle|upper leg muscle owl:Class UBERON:0004463 biolink:NamedThing musculature of hindlimb stylopod Any collection of muscles that is part of a hindlimb stylopod (upper leg / thigh)[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle group of thigh|musculature of thigh|set of muscles of thigh|thigh musculature owl:Class UBERON:0002446 biolink:NamedThing patella A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad] tmpak2llvmy_mondo_relaxed.owl knee bone|patella|knee cap owl:Class UBERON:0001485 biolink:NamedThing knee joint The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl joint of knee|articulatio genus owl:Class UBERON:0001737 biolink:NamedThing larynx A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016419 biolink:NamedThing hereditary breast carcinoma Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. tmpak2llvmy_mondo_relaxed.owl breast cancer, familial Male|familial cancer of breast|breast cancer, familial|hereditary breast cancer|familial breast carcinoma|hereditary breast carcinoma|familial breast cancer|familial cancer of the breast NCIT:C4503|MESH:C562840|ICD10:C50.4|Orphanet:227535|ICD10:C50.0|ICD10:C50.5|UMLS:C0346153|ICD10:C50.2|ICD10:C50.6|SCTID:254843006|ICD10:C50.1|OMIM:114480|ICD10:C50.8|ICD10:C50.3 Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 owl:Class GO:2000293 biolink:NamedThing negative regulation of defecation Any process that stops, prevents or reduces the frequency, rate or extent of defecation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030421 biolink:NamedThing defecation The expulsion of feces from the rectum. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010379 biolink:NamedThing superior tarsal muscle The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid. tmpak2llvmy_mondo_relaxed.owl the superior tarsal muscle|mueller muscle|Mueller's muscle|Müller's muscle|musculus tarsalis superior|Muller's muscle owl:Class UBERON:0000013 biolink:NamedThing sympathetic nervous system The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. tmpak2llvmy_mondo_relaxed.owl pars sympathica divisionis autonomici systematis nervosi|sympathetic nervous system|sympathetic part of autonomic division of nervous system owl:Class NBO:0000551 biolink:NamedThing visual object recognition "Ability to perceive the physical properties of an object (such as shape, colour and texture) and apply semantic attributes to the object, which includes the understanding of its use, previous experience with the object and how it relates to others." [wikipedia:Cognitive_Neuroscience_of_Visual_Object_Recognition] tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00001998 biolink:NamedThing soil Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms. tmpak2llvmy_mondo_relaxed.owl regolith owl:Class ENVO:01000820 biolink:NamedThing pedosphere An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011837 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 2 Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene. tmpak2llvmy_mondo_relaxed.owl VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|VKCFD2|vitamin K-dependent clotting factors, combined deficiency of, type 2|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|vitamin K-dependent clotting factors, combined deficiency of, 2 UMLS:C1843832|OMIM:607473|MESH:C564393 owl:Class HGNC:23663 biolink:NamedThing VKORC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002116 biolink:NamedThing ileum the portion of the small intestine that extends from the jejunum to the colon tmpak2llvmy_mondo_relaxed.owl intestinum ileum|posterior intestine|distal intestine|lower intestine owl:Class FOODON:03411328 biolink:NamedThing goat tmpak2llvmy_mondo_relaxed.owl caprine|Capra hircus Linnaeus, 1758 owl:Class HGNC:6715 biolink:NamedThing LTBP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016855 biolink:NamedThing Mowat-Wilson syndrome due to monosomy 2q22 tmpak2llvmy_mondo_relaxed.owl Mowat-Wilson syndrome due to monosomy type 2q22|Hirschsprung disease and intellectual disability due to monosomy 2q22|Mowat-Wilson syndrome due to del(2)q(22)|Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to del(2)(q22)|Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537|ICD10:Q43.1|UMLS:CN202198 owl:Class GO:0070131 biolink:NamedThing positive regulation of mitochondrial translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein formation|positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein synthesis owl:Class GO:0032543 biolink:NamedThing mitochondrial translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. tmpak2llvmy_mondo_relaxed.owl mitochondrial protein formation|mitochondrial protein translation|mitochondrial protein anabolism|mitochondrial protein biosynthesis|mitochondrial protein synthesis owl:Class UBERON:0014699 biolink:NamedThing extraembryonic venous system A venous system that overlaps a umbilical cord and is part of a entire extraembryonic component. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016887 biolink:NamedThing entire extraembryonic component The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. tmpak2llvmy_mondo_relaxed.owl extra-embryonic component|extraembryonic component owl:Class MONDO:0013989 biolink:NamedThing developmental and epileptic encephalopathy, 14 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 14|early infantile epileptic encephalopathy caused by mutation in KCNT1|KCNT1 early infantile epileptic encephalopathy|EIEE14|DEE14|epileptic encephalopathy, early infantile, type 14 UMLS:C3554195|OMIM:614959|DOID:0080439 owl:Class HGNC:18865 biolink:NamedThing KCNT1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001357 biolink:NamedThing desert A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000097 biolink:NamedThing desert area A region rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpak2llvmy_mondo_relaxed.owl arid region owl:Class UBERON:0010145 biolink:NamedThing paraurethral gland the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer tmpak2llvmy_mondo_relaxed.owl female urethral gland|Skene gland|U-spot|para-urethral gland|glandulae vestibulares minores|urethral gland of clitoral urethra|glandula vestibulares minor|Schueller's gland|Guerin's gland|Skene's gland|Skene's gland of clitoral urethra|periurethral gland|female prostate owl:Class MONDO:0037872 biolink:NamedThing bordetellosis Any disease caused by infection with organisms of the genus Bordetella. tmpak2llvmy_mondo_relaxed.owl Bordetella disease or disorder|Bordetella Infections|Bordetellosis|Infection, Bordetella|Bordetella infection|Bordetella infectious disease|Bordetella Infection|bordetellosis|Bordetella caused disease or disorder|Infections, Bordetella|INFECT BORDETELLA EFO:1001275|UMLS:C0006015|SCTID:26484003|MESH:D001885|ICD9:041.85 B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. MONDO:0020758 owl:Class GO:0032114 biolink:NamedThing regulation of glucose-6-phosphatase activity Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004346 biolink:NamedThing glucose-6-phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. tmpak2llvmy_mondo_relaxed.owl glucose 6-phosphate phosphatase activity|D-glucose-6-phosphate phosphohydrolase activity owl:Class MONDO:0015494 biolink:NamedThing isolated dystonia A dystonia (disease) that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic dystonia (disease)|isolated dystonic disorder|nonsyndromic dystonic disorder|Pure dystonia ICD10:G24.1|Orphanet:156159 owl:Class UBERON:0001335 biolink:NamedThing prostatic urethra the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum) tmpak2llvmy_mondo_relaxed.owl prostatic part of urethra|pars prostatica urethrae|male prostatic urethra|prostatic part of male urethra owl:Class UBERON:0001333 biolink:NamedThing male urethra A urethra that is part of a male reproductive system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017438 biolink:NamedThing amelia of lower limb A non-syndromic amelia that involves the hindlimb. tmpak2llvmy_mondo_relaxed.owl non-syndromic amelia of hindlimb|hindlimb non-syndromic amelia SCTID:265798000|Orphanet:294969|HP:0009818|ICD10:Q72.0 owl:Class UBERON:0002103 biolink:NamedThing hindlimb A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. tmpak2llvmy_mondo_relaxed.owl lower extremity|free lower limb|pelvic appendage|hindlimb|inferior member|membrum inferius|hind-limb|free part of lower limb|hind limb|lower limb owl:Class UBERON:0005130 biolink:NamedThing metanephric loop of Henle The metanephric loop of Henle is a metanephric nephron tubule that connects the proximal convoluted tubule to the distal convoluted tubule in the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008456 biolink:NamedThing alpha-N-acetylgalactosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides. tmpak2llvmy_mondo_relaxed.owl alpha-galactosidase B activity|N-acetyl-alpha-D-galactosaminidase activity|alpha-NAGA activity|N-acetyl-alpha-galactosaminidase activity|alpha-acetylgalactosaminidase activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity owl:Class HGNC:45 biolink:NamedThing ABCB4 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:17790 biolink:NamedThing methanol The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. tmpak2llvmy_mondo_relaxed.owl wood alcohol|wood spirit|Methanol|Methyl alcohol|wood naphtha|carbinol|methanol|MeOH|Methylalkohol|METHANOL|spirit of wood|CH3OH owl:Class CHEBI:76971 biolink:NamedThing Escherichia coli metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. tmpak2llvmy_mondo_relaxed.owl E.coli metabolite|E.coli metabolites|Escherichia coli metabolites owl:Class UBERON:0007807 biolink:NamedThing connecting stalk vasculature A vasculature that is part of a connecting stalk. tmpak2llvmy_mondo_relaxed.owl vasculature of connecting stalk|connecting stalk blood vessel|connecting stalk blood vessels owl:Class UBERON:0007806 biolink:NamedThing connecting stalk A bridge of mesoderm connecting the caudal end of the young embryo with the trophoblastic tissues; the precursor of the umbilical cord. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002241 biolink:NamedThing factor XIII deficiency An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII. tmpak2llvmy_mondo_relaxed.owl FXIIID owl:Class UBERON:0001690 biolink:NamedThing ear Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals. tmpak2llvmy_mondo_relaxed.owl auditory apparatus|auris owl:Class CHEBI:83970 biolink:NamedThing cardiac glycoside Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles. tmpak2llvmy_mondo_relaxed.owl cardiac glycosides owl:Class CHEBI:77307 biolink:NamedThing cardioprotective agent Any protective agent that is able to prevent damage to the heart. tmpak2llvmy_mondo_relaxed.owl cardioprotective agents owl:Class MONDO:0019281 biolink:NamedThing isolated genetic hair shaft abnormality tmpak2llvmy_mondo_relaxed.owl isolated hair shaft abnormality Orphanet:79366 owl:Class MONDO:0014751 biolink:NamedThing palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. tmpak2llvmy_mondo_relaxed.owl palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|cleft palate, psychomotor retardation, and distinctive Facial features|CPRF|cleft palate, psychomotor retardation, and distinctive FACIAL features UMLS:C4225229|Orphanet:477993|OMIM:616728 owl:Class HGNC:29079 biolink:NamedThing KDM1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010069 biolink:NamedThing outer epithelial layer of tympanic membrane A portion of the external acoustic meatus epithelium which makes up the outer (cuticular) layer of the tympanic membrane tmpak2llvmy_mondo_relaxed.owl tympanic membrane external acoustic meatus epithelial component|outer layer of tympanic membrane|outer cuticular layer of tympanic membrane|cuticular layer of tympanic membrane|cuticular stratum of tympanic membrane owl:Class MONDO:0014322 biolink:NamedThing premature ovarian failure 9 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. tmpak2llvmy_mondo_relaxed.owl primary ovarian failure caused by mutation in HFM1|premature ovarian failure type 9|HFM1 primary ovarian failure|Pof9|premature ovarian failure 9 OMIM:615724|UMLS:C3810376 owl:Class MONDO:0000490 biolink:NamedThing glomerulosclerosis A hardening of the kidney glomerulus caused by scarring of the blood vessels. tmpak2llvmy_mondo_relaxed.owl glomerular sclerosis NCIT:C120888|SCTID:197661001|DOID:0050851|UMLS:C0178664 owl:Class HP:0000096 biolink:NamedThing Glomerular sclerosis Accumulation of scar tissue within the glomerulus. tmpak2llvmy_mondo_relaxed.owl Glomerulosclerosis|Renal glomerular fibrosis SNOMEDCT_US:82646005|UMLS:C0178664|SNOMEDCT_US:197661001 HP:0030761 human_phenotype owl:Class MONDO:0013428 biolink:NamedThing Meier-Gorlin syndrome 2 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. tmpak2llvmy_mondo_relaxed.owl Meier-Gorlin syndrome type 2|ORC4 Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in ORC4|MGORS2|Meier-GORLIN syndrome 2|Meier-Gorlin syndrome 2 UMLS:C3151097|OMIM:613800|DOID:0080513 owl:Class HGNC:8490 biolink:NamedThing ORC4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013328 biolink:NamedThing retinitis pigmentosa 58 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene. tmpak2llvmy_mondo_relaxed.owl RP58|retinitis pigmentosa caused by mutation in ZNF513|retinitis pigmentosa 58|retinitis pigmentosa type 58|ZNF513 retinitis pigmentosa ICD10:H35.5|UMLS:C3150879|OMIM:613617|DOID:0110362 owl:Class HGNC:26498 biolink:NamedThing ZNF513 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16400 biolink:NamedThing NLRP3 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q14 biolink:NamedThing chr15q14 (Human) tmpak2llvmy_mondo_relaxed.owl 39800000 33400000 hg38 owl:Class OBO:CHR_9606-chr15q1 biolink:NamedThing chr15q1 (Human) tmpak2llvmy_mondo_relaxed.owl 44500000 19000000 hg38 owl:Class MONDO:0013484 biolink:NamedThing cataract 36 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. tmpak2llvmy_mondo_relaxed.owl cataract 36|CTRCT36|cataract type 36|CATC4|cataract (disease) caused by mutation in TDRD7|TDRD7 cataract (disease)|autosomal recessive congenital cataract 4|cataract, autosomal recessive congenital 4 DOID:0110247|UMLS:C3151304|OMIM:613887 owl:Class HGNC:30831 biolink:NamedThing TDRD7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008437 biolink:NamedThing hereditary spastic paraplegia 3A Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. tmpak2llvmy_mondo_relaxed.owl FSP1|ATL1 hereditary spastic paraplegia|familial spastic paraplegia, autosomal dominant, 1|strumpell disease|SPG3A|Spg3|spastic paraplegia 3, autosomal dominant|Strümpell disease|autosomal dominant familial spastic paraplegia 1|autosomal dominant spastic paraplegia 3|autosomal dominant spastic paraplegia type 3|hereditary spastic paraplegia type 3A|hereditary spastic paraplegia caused by mutation in ATL1|Strumpell disease|spastic Paraplegia 3A|spastic paraplegia 3 Orphanet:100984|OMIM:182600|GARD:0005041|DOID:0110791|NCIT:C142893|UMLS:C2931355|ICD10:G11.4|MESH:C536864 owl:Class HGNC:11231 biolink:NamedThing ATL1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005929 biolink:NamedThing cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. tmpak2llvmy_mondo_relaxed.owl primary cilium|microtubule-based flagellum|flagellum|eukaryotic flagellum owl:Class OBO:CHR_9606-chr5q31.3 biolink:NamedThing chr5q31.3 (Human) tmpak2llvmy_mondo_relaxed.owl 145100000 140100000 hg38 owl:Class Nc16520cf8ae04e5db5f1c30ec1667d02 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009070 biolink:NamedThing D-glyceric aciduria A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. tmpak2llvmy_mondo_relaxed.owl d-glyceric aciduria|D-glyceric acidemia|D-glycerate kinase deficiency|non ketotic hyperglycinemia syndrome|D-glycericacidemia|glycerate kinase deficiency UMLS:C0342765|UMLS:C1291386|ICD10:E74.8|GARD:0000234|OMIM:220120|DOID:0111626|SCTID:237980004|NCIT:C128804|MESH:C535767|Orphanet:941 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:24247 biolink:NamedThing GLYCTK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012173 biolink:NamedThing long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|LCHADD|LCHAD deficiency|trifunctional protein deficiency type 1|long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency|long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase long chain deficiency GARD:0006867|UMLS:CN074230|UMLS:C3711645|UMLS:CN239369|OMIM:609016|NCIT:C129929|SCTID:726021008|ICD10:E71.3|Orphanet:5 owl:Class HGNC:4801 biolink:NamedThing HADHA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014542 biolink:NamedThing congenital myasthenic syndrome 15 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in ALG14|congenital myasthenic syndrome 15 without tubular aggregates|myasthenic syndrome, congenital, 15|CMS15|myasthenic syndrome, congenital, type 15|congenital myasthenic syndrome type 15|myasthenic syndrome, congenital, without tubular aggregates|ALG14 congenital myasthenic syndrome DOID:0110658|OMIM:616227|UMLS:C4015596 owl:Class HGNC:28287 biolink:NamedThing ALG14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022926 biolink:NamedThing daentl towsend Siegel syndrome tmpak2llvmy_mondo_relaxed.owl hydrocephalus blue sclera nephropathy|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome GARD:0000236|MESH:C535768 https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome owl:Class MONDO:0003251 biolink:NamedThing esophageal granular cell tumor A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003 tmpak2llvmy_mondo_relaxed.owl esophageal granular cell myoblastoma|esophageal granular cell neoplasm|malignant granular cell esophageal tumor|granular cell esophagus neoplasm|granular cell esophageal tumor|granular cell neoplasm of the esophagus|granular cell esophagus tumor|granular cell tumor of esophagus|granular cell tumor of the esophagus|granular cell myoblastoma of the esophagus|granular cell neoplasm of esophagus|esophagus granular cell tumor|granular cell esophagus myoblastoma|granular cell myoblastoma of esophagus|esophageal granular cell tumor DOID:5040|NCIT:C5700|UMLS:C1333448 owl:Class UBERON:0000165 biolink:NamedThing mouth The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). tmpak2llvmy_mondo_relaxed.owl regio oralis|oral vestibule|stomatodaeum|adult mouth|mouth cavity|stoma|oral region|rima oris|cavitas oris|trophic apparatus|cavum oris|vestibule of mouth|cavital oralis|vestibulum oris owl:Class UBERON:0018326 biolink:NamedThing ilioischiadic foramen Situated just caudal to the acetabulum, the foramen is bound dorsally by the illium and ventrally by the ischium. The foramen transmitts the ischiadic nerves and vessels (Baumel et al. 1993) tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001273 biolink:NamedThing ilium Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl ilium bone|illium|os ilium|os iliacum|os ilii|iliac bone owl:Class MONDO:0020695 biolink:NamedThing hypotonic cerebral palsy A type of cerebral palsy characterized by decreased muscle tone. tmpak2llvmy_mondo_relaxed.owl hypotonic cerebral palsy SCTID:192958009|NCIT:C116906 owl:Class HP:0001252 biolink:NamedThing Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. tmpak2llvmy_mondo_relaxed.owl Muscle hypotonia|Peripheral hypotonia|Central hypotonia|Low or weak muscle tone|Low muscle tone|Muscular hypotonia MSH:D009123|SNOMEDCT_US:398152000|SNOMEDCT_US:398151007|UMLS:C0026827 Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. HP:0011398 human_phenotype owl:Class UBERON:0005989 biolink:NamedThing atrioventricular septum The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve tmpak2llvmy_mondo_relaxed.owl membranous atrioventricular septum owl:Class MONDO:0002186 biolink:NamedThing acute maxillary sinusitis Acute form of maxillary sinusitis. tmpak2llvmy_mondo_relaxed.owl acute antritis|maxillary sinusitis, acute ICD9:461.0|ICD10:J01.0|ICD10:J01.00|UMLS:C0155804|SCTID:68272006|DOID:2050 owl:Class PATO:0000389 biolink:NamedThing acute A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002332 biolink:NamedThing ciliated cell of the bronchus A ciliated cell of the bronchus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-20T02:21:12Z cell owl:Class UBERON:0011234 biolink:NamedThing fibrous membrane of synovial tendon sheath tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000118 biolink:NamedThing lung bud Structure derived from foregut that becomes a lung[GO]. tmpak2llvmy_mondo_relaxed.owl gemma pulmonalis|primary lung bud|gemma respiratoria|lung bud|respiratory diverticulum owl:Class UBERON:0001281 biolink:NamedThing hepatic sinusoid Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers. tmpak2llvmy_mondo_relaxed.owl liver sinusoidal blood vessel|liver sinusoid|vas sinusoideum|sinusoid of liver|vas capillare sinusoideum|liver hepatic sinusoids|hepatic sinusoids|sinusoidal blood vessel of liver owl:Class UBERON:0035608 biolink:NamedThing dura mater lymph vessel Any lymph vessel that is located in the dura mater of the brain. tmpak2llvmy_mondo_relaxed.owl dural lymph vessel|dural lymph vasculature owl:Class UBERON:0010743 biolink:NamedThing meningeal cluster The collection of all meningeal layers that line a central nervous system. tmpak2llvmy_mondo_relaxed.owl meninges|cluster of meninges|cerebral meninges owl:Class MONDO:0016195 biolink:NamedThing qualitative or quantitative defects of beta-myosin heavy chain (MYH7) tmpak2llvmy_mondo_relaxed.owl Orphanet:209185 owl:Class UBERON:0001212 biolink:NamedThing duodenal gland A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP]. tmpak2llvmy_mondo_relaxed.owl glandula duodenales Brunneri|Brunner's gland|submucosal gland of duodenum|glandula duodenales|gland of Brunner owl:Class NCBITaxon:40674 biolink:NamedThing Mammalia tmpak2llvmy_mondo_relaxed.owl mammals GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014288 biolink:NamedThing Joubert syndrome 21 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 21|Joubert syndrome caused by mutation in CSPP1|JBTS21|Joubert syndrome type 21|CSPP1 Joubert syndrome OMIM:615636|UMLS:C3810212|DOID:0110990 owl:Class HGNC:26193 biolink:NamedThing CSPP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019226 biolink:NamedThing transmission of nerve impulse The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. tmpak2llvmy_mondo_relaxed.owl signal transmission along a neuron|conduction of nerve impulse owl:Class GO:0007154 biolink:NamedThing cell communication Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024419 biolink:NamedThing enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. tmpak2llvmy_mondo_relaxed.owl enthesitis|inflammation of enthesis|inflammatory enthesopathy|enthesis inflammation SCTID:359643005|UMLS:C1282952|NCIT:C114470 owl:Class CHEBI:16842 biolink:NamedThing formaldehyde An aldehyde resulting from the formal oxidation of methanol. tmpak2llvmy_mondo_relaxed.owl Formaldehyde|formaldehyde|Formaldehyd|Oxomethane|Methylene oxide|Methanal|Oxomethylene|Formalin|FORMALIN|FORMALDEHYDE owl:Class CHEBI:75771 biolink:NamedThing mouse metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). tmpak2llvmy_mondo_relaxed.owl mouse metabolites|Mus musculus metabolite|Mus musculus metabolites owl:Class CL:0000022 biolink:NamedThing female germ line stem cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class N3431d499b3b74c06bb31a327adc87c26 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0014796 biolink:NamedThing common tendinous ring A ring of fibrous tissue surrounding the optic nerve at its entrance at the apex of the orbit. tmpak2llvmy_mondo_relaxed.owl anulus of Zinn|common annular tendon|tendon of Zinn|common anular tendon|annulus tendineus communis|anulus tendineus communis|anulus tendineus|common tendinous ring|annulus of Zinn|ligament of Zinn owl:Class UBERON:0000941 biolink:NamedThing cranial nerve II Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. tmpak2llvmy_mondo_relaxed.owl nervus opticus|second cranial nerve|optic nerve|02 optic nerve|optic II|optic II nerve|optic|optic nerve [II]|nervus opticus [II]|2n|cranial II|CN-II|nerve II owl:Class PR:000001003 biolink:NamedThing CD34 molecule tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024325 biolink:NamedThing cutaneous glomangiomyoma A glomangiomyoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl glomangiomyoma of skin|zone of skin glomangiomyoma UMLS:C1275227|ICD9:227.6|SCTID:403971002 owl:Class ENVO:01000406 biolink:NamedThing snow Snow is an environmental material which is primarily composed of flakes of crystalline water ice. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000277 biolink:NamedThing water ice Ice which is formed from water.|Ice is water frozen into a solid state. It can appear transparent or opaque bluish-white color, depending on the presence of impurities or air inclusions. The addition of other materials such as soil may further alter its appearance. tmpak2llvmy_mondo_relaxed.owl ice owl:Class UBERON:0009913 biolink:NamedThing renal lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. tmpak2llvmy_mondo_relaxed.owl kidney lobe|lobi renalis|lobus renalis|lobi renales owl:Class MONDO:0015900 biolink:NamedThing hypoaldosteronism disease tmpak2llvmy_mondo_relaxed.owl rare hypoaldosteronism|hypoaldosteronism ICD10:E27.4|Orphanet:181419|GARD:0002874|MESH:D006994|UMLS:C0020595|SCTID:60086000 Editor note: we place the GARD class here as it is implicitly rare owl:Class HP:0004319 biolink:NamedThing Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. tmpak2llvmy_mondo_relaxed.owl Low blood aldosterone level|Decreased serum aldosterone|Mineralocorticoid insufficiency|Hypoaldosteronism|Decreased aldosterone production|Decreased aldosterone SNOMEDCT_US:60086000|UMLS:C0020595|UMLS:C0857899|UMLS:C1846226|MSH:D006994 Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. peter 2008-02-25T10:45:00Z HP:0002924|HP:0008184|HP:0000355|HP:0008190 human_phenotype owl:Class MONDO:0014565 biolink:NamedThing cataract 43 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. tmpak2llvmy_mondo_relaxed.owl cataract 43|early-onset non-syndromic cataract caused by mutation in UNC45B|UNC45B early-onset non-syndromic cataract|cataract type 43|CTRCT43 OMIM:616279|DOID:0110259|UMLS:C4225389|ICD10:Q12.0 owl:Class HGNC:14304 biolink:NamedThing UNC45B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008443 biolink:NamedThing spastic paraplegia-precocious puberty syndrome Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. tmpak2llvmy_mondo_relaxed.owl familial spastic paraplegia, intellectual disability, and precocious puberty|spastic paraplegia with precocious puberty|precocious puberty with spastic paraplegia|familial spastic paraplegia, mental retardation, and precocious puberty UMLS:C1866850|Orphanet:2826|GARD:0004918|OMIM:182820|MESH:C536874 owl:Class HGNC:1373 biolink:NamedThing CA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005875 biolink:NamedThing Newcastle disease A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. tmpak2llvmy_mondo_relaxed.owl pseudo-fowlpest|Newcastle's disease NCIT:C34849|DOID:2929|MESH:D009521|UMLS:C0027983|EFO:0007395 owl:Class HP:0000509 biolink:NamedThing Conjunctivitis Inflammation of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl Pink eye|Conjunctivitis, recurrent SNOMEDCT_US:9826008|MSH:D003231|UMLS:C0009763|UMLS:C1864156 human_phenotype owl:Class UBERON:0000111 biolink:NamedThing organogenesis stage A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. tmpak2llvmy_mondo_relaxed.owl segmentation stage owl:Class UBERON:0000110 biolink:NamedThing neurula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9884 biolink:NamedThing RB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014651 biolink:NamedThing acrofacial dysostosis Cincinnati type Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene. tmpak2llvmy_mondo_relaxed.owl POLR1A acrofacial dysostosis|acrofacial dysostosis, Cincinnati type|AFDCIN|acrofacial dysostosis caused by mutation in POLR1A DOID:0060353|OMIM:616462|UMLS:C4225317 owl:Class UBERON:0000978 biolink:NamedThing leg The portion of the hindlimb that contains both the stylopod and zeugopod. tmpak2llvmy_mondo_relaxed.owl tetrapod leg|lower extremity owl:Class CHEBI:24676 biolink:NamedThing hydroxybenzoic acid Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring. tmpak2llvmy_mondo_relaxed.owl hydroxybenzoic acids|hydroxybenzoic acid owl:Class CHEBI:24675 biolink:NamedThing hydroxybenzoate Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxybenzoates owl:Class MONDO:0014340 biolink:NamedThing atrial fibrillation, familial, 15 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. tmpak2llvmy_mondo_relaxed.owl NUP155 familial atrial fibrillation|familial atrial fibrillation caused by mutation in NUP155|ATFB15|atrial fibrillation, familial, type 15|atrial fibrillation, familial, 15 UMLS:C4014269|OMIM:615770 owl:Class HGNC:8063 biolink:NamedThing NUP155 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000080 biolink:NamedThing immature stage Human developmental stage that covers the period from birth until 12 years old. tmpak2llvmy_mondo_relaxed.owl child|0-12 years owl:Class HsapDv:0000001 biolink:NamedThing human life cycle Temporal interval that defines human life from the prenatal stage until late adulthood. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061512 biolink:NamedThing protein localization to cilium A process in which a protein is transported to, or maintained in, a location within a cilium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017775 biolink:NamedThing melioidosis An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. tmpak2llvmy_mondo_relaxed.owl Burkholderia pseudomallei disease or disorder|Whitmore's disease|pseudoglanders|Whitmore disease|Burkholderia pseudomallei caused disease or disorder|acute and fulminating melioidosis|Burkholderia pseudomallei infectious disease|B pseudomallei infection|Burkholderia pseudomallei infection|Nightcliff gardener's disease|subacute and chronic melioidosis ICD9:025|ICD10:A24.1|ICD10:A24.9|MedDRA:10069748|GARD:0009546|NCIT:C128336|DOID:5052|UMLS:C0348970|UMLS:C0348971|ICD10:A24.3|MESH:D008554|ICD10:A24.4|UMLS:C0025229|ICD10:A24.2|Orphanet:31202|SCTID:186312003 https://rarediseases.info.nih.gov/diseases/9546/melioidosis owl:Class NCBITaxon:28450 biolink:NamedThing Burkholderia pseudomallei tmpak2llvmy_mondo_relaxed.owl Bacterium whitmori|Malleomyces pseudomallei|Loefflerella pseudomallei|Pseudomonas pseudomallei|Bacillus pseudomallei PMID:1283774|GC_ID:11|PMID:12734250 NCBITaxon:1439853|NCBITaxon:1435368|NCBITaxon:1487955|NCBITaxon:1435988|NCBITaxon:1487954|NCBITaxon:1435366 ncbi_taxonomy owl:Class UBERON:0002177 biolink:NamedThing right main bronchus The main bronchus on the right side. tmpak2llvmy_mondo_relaxed.owl bronchus principalis dexter|right principal bronchus|right primary bronchus|right major bronchus|right bronchus owl:Class UBERON:0006518 biolink:NamedThing right lung lobe A lobe of lung that is part of a right lung. tmpak2llvmy_mondo_relaxed.owl lobe of the right lung|lobe of right lung owl:Class MONDO:0010075 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures|SEMDJL1|SEMDJL DOID:0112198|OMIM:271640 owl:Class HGNC:17978 biolink:NamedThing B3GALT6 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000837 biolink:NamedThing hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. tmpak2llvmy_mondo_relaxed.owl MPP|hemopoietic progenitor cell CALOHA:TS-0448|BTO:0000725 Markers differ between mouse and human. cell owl:Class GO:1903796 biolink:NamedThing negative regulation of inorganic anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl inhibition of transmembrane inorganic anion transport|down-regulation of transmembrane inorganic anion transport|negative regulation of inorganic anion membrane transport|downregulation of inorganic anion membrane transport|down regulation of transmembrane inorganic anion transport|down-regulation of inorganic anion transmembrane transport|down-regulation of inorganic anion membrane transport|negative regulation of transmembrane inorganic anion transport|downregulation of inorganic anion transmembrane transport|downregulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|inhibition of inorganic anion transmembrane transport|inhibition of inorganic anion membrane transport|down regulation of inorganic anion membrane transport owl:Class GO:0098661 biolink:NamedThing inorganic anion transmembrane transport The process in which an inorganic anion is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl inorganic anion membrane transport|transmembrane inorganic anion transport owl:Class MONDO:0007607 biolink:NamedThing Birt-Hogg-Dube syndrome Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. tmpak2llvmy_mondo_relaxed.owl fibrofolliculomas with trichodiscomas and acrochordons|Birt Hogg Dube syndrome|Birt-Hogg-Dubé syndrome|BHD syndrome|Hornstein-Knickenberg syndrome|Birt-Hogg-Dube syndrome|BHD ICD9:704.8|Orphanet:122|GARD:0002322|DOID:0050676|MedDRA:10067736|UMLS:C0346010|OMIM:135150|SCTID:110985001|NCIT:C28244|MESH:D058249|EFO:1001273 owl:Class HGNC:27310 biolink:NamedThing FLCN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004981 biolink:NamedThing atrial fibrillation A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) tmpak2llvmy_mondo_relaxed.owl AF|atrial fibrillation (disease)|atrial fibrillation|AFib|A-fib atrial fibrillation (disease) SCTID:49436004|DOID:0060224|EFO:0000275|NCIT:C50466|UMLS:C0004238|ICD9:427.31|ICD10:I48|HP:0005110 owl:Class UBERON:0002398 biolink:NamedThing manus distal segment of the fore limb, including carpal region, metacarpal region and digits. tmpak2llvmy_mondo_relaxed.owl fore paw|terminal segment of free upper limb|forelimb autopodium|hand|fore foot|forefoot|fore-paw|forelimb autopod|hand region|forefeet|forepaw|forefoot of quadruped owl:Class HGNC:9201 biolink:NamedThing POMC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002532 biolink:NamedThing epiblast (generic) In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA] tmpak2llvmy_mondo_relaxed.owl ectoblast|primitive ectoderm|blastocyst|epiblastus|epiblast owl:Class CL:0000352 biolink:NamedThing epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0007806 biolink:NamedThing hypotrichosis 4 Any hypotrichosis in which the cause of the disease is a mutation in the HR gene. tmpak2llvmy_mondo_relaxed.owl HYPT4|HR hypotrichosis|hypotrichosis caused by mutation in HR|hypotrichosis 4|hypotrichosis type 4|hypotrichosis, Marie Unna type, 1|hypt4|Muhh1|Marie Unna hereditary hypotrichosis 1 MESH:C567718|OMIM:146550|UMLS:C2750815|DOID:0110701 Editor note: consider merging into MUHH owl:Class HGNC:5172 biolink:NamedThing HR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000926 biolink:NamedThing mesoderm The middle germ layer of the embryo, between the endoderm and ectoderm. tmpak2llvmy_mondo_relaxed.owl embryonic mesoderm|mesodermal mantle|entire mesoderm owl:Class UBERON:0006603 biolink:NamedThing presumptive mesoderm Presumptive structure of the blastula that will develop into mesoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014334 biolink:NamedThing severe combined immunodeficiency due to LCK deficiency tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|SCID due to lymphocyte-specific protein tyrosine kinase deficiency|IMD22|immunodeficiency 22|SCID due to LCK deficiency OMIM:615758|ICD10:D81.1|Orphanet:280142|UMLS:C4014233 owl:Class HGNC:6524 biolink:NamedThing LCK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019508 biolink:NamedThing van der Woude syndrome Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. tmpak2llvmy_mondo_relaxed.owl cleft lip/palate with mucous cysts of lower lip|VWS|lip-pit syndrome|cleft lip and/or palate with mucous cysts of lower lip|lip pit syndrome|LPS MESH:C536528|NCIT:C74986|GARD:0008414|UMLS:C0175697|DOID:0060239|ICD10:Q38.0|ICD9:744.89|SCTID:79261008|Orphanet:888 owl:Class PATO:0001693 biolink:NamedThing increased viscosity A viscosity which relatively high. tmpak2llvmy_mondo_relaxed.owl high viscosity owl:Class UBERON:0012651 biolink:NamedThing mucosa of gastroduodenal junction A mucosa that is part of a gastroduodenal junction. tmpak2llvmy_mondo_relaxed.owl gastroduodenal mucosa owl:Class UBERON:0004508 biolink:NamedThing skeletal muscle tissue of levator palpebrae superioris A portion of skeletal muscle tissue that is part of a levator palpebrae superioris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013312 biolink:NamedThing retinitis pigmentosa 55 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 55|retinitis pigmentosa 55|retinitis pigmentosa caused by mutation in ARL6|RP55|ARL6 retinitis pigmentosa UMLS:C3150808|ICD10:H35.5|DOID:0110370|OMIM:613575 owl:Class HGNC:13210 biolink:NamedThing ARL6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002400 biolink:NamedThing parietal pleura The outer serous membrane of the pulmonary pleural. tmpak2llvmy_mondo_relaxed.owl pleura parietalis owl:Class UBERON:0000977 biolink:NamedThing pleura The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion). tmpak2llvmy_mondo_relaxed.owl pleura|wall of pleural sac|pleural tissue owl:Class UBERON:0035465 biolink:NamedThing endometrial cavity A space inside the uterus lined by a layer of mucus membranes called the endometrium. tmpak2llvmy_mondo_relaxed.owl endometrial lumen|endometrial cavity|cavity of body of uterus|intrauterine cavity owl:Class GO:0007601 biolink:NamedThing visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. tmpak2llvmy_mondo_relaxed.owl vision|sense of sight|sensory visual perception owl:Class GO:0051148 biolink:NamedThing negative regulation of muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|inhibition of muscle cell differentiation|down regulation of muscle cell differentiation owl:Class GO:0042692 biolink:NamedThing muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. tmpak2llvmy_mondo_relaxed.owl myogenesis owl:Class UBERON:0003649 biolink:NamedThing metacarpal bone of digit 5 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 5. tmpak2llvmy_mondo_relaxed.owl metacarpal bone of 5 th digit of hand|metacarpal bone digit 5|metacarpal V|5 th finger metacarpal bone|finger 5 metacarpus|fifth metacarpal bone|fifth finger metacarpal|metacarpal 5|metacarpal of 5 th digit of hand|metacarpal bone of hand digit 5|metacarpal of fifth finger|metacarpal bone of digit V|5 th digit of hand metacarpal|manual digit 5 metacarpus|fifth finger metacarpal bone|metacarpal bone of fifth finger|hand digit 5 metacarpal|metacarpal bone of 5 th finger|forelimb digit 5 metacarpus|hand digit 5 metacarpal bone|metacarpal of hand digit 5|metacarpal of 5 th finger|5 th finger metacarpal|5 th digit of hand metacarpal bone owl:Class MONDO:0009064 biolink:NamedThing ocular cystinosis Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. tmpak2llvmy_mondo_relaxed.owl non-nephropathic cystinosis|adult-onset cystinosis|cystinosis, benign Nonnephropathic|cystinosis, ocular Nonnephropathic|cystinosis, ADULT NONNEPHROPATHIC|ocular cystinosis Orphanet:411641|MESH:C535765|ICD10:E72.0|UMLS:C2931013|OMIM:219750 owl:Class HGNC:2518 biolink:NamedThing CTNS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031947 biolink:NamedThing negative regulation of glucocorticoid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpak2llvmy_mondo_relaxed.owl inhibition of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process|down-regulation of glucocorticoid biosynthetic process|down regulation of glucocorticoid biosynthetic process owl:Class MONDO:0016458 biolink:NamedThing 8q12 microduplication syndrome The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. tmpak2llvmy_mondo_relaxed.owl trisomy 8q12|chromosome 8q12 microduplication syndrome|dup(8)(q12) GARD:0012816|Orphanet:228399|UMLS:C4304504|UMLS:CN201422|ICD10:Q92.3|SCTID:719684000 https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome owl:Class OBO:CHR_9606-chr8q12 biolink:NamedThing chr8q12 (Human) tmpak2llvmy_mondo_relaxed.owl 65100000 54600000 hg38 owl:Class MONDO:0014956 biolink:NamedThing Chitayat syndrome tmpak2llvmy_mondo_relaxed.owl Chitayat syndrome; CHYTS|CHYTS|Chitayat syndrome OMIM:617180|UMLS:C4310679 owl:Class HGNC:3444 biolink:NamedThing ERF tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001908 biolink:NamedThing optic tract Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. tmpak2llvmy_mondo_relaxed.owl tractus opticus|tractus optici|visual pathway|optic tracts|optic lemniscus owl:Class GO:0035303 biolink:NamedThing regulation of dephosphorylation Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016311 biolink:NamedThing dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002515 biolink:NamedThing periosteum the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003942 biolink:NamedThing somatic sensory system The sensory system for the sense of touch and pain. tmpak2llvmy_mondo_relaxed.owl somatic sensory system|somatosensory system|system for detection of somatic senses owl:Class UBERON:0000012 biolink:NamedThing somatic nervous system Part of peripheral nervous system that includes the somatic parts of the cranial and spinal nerves and their ganglia and the peripheral sensory receptors. tmpak2llvmy_mondo_relaxed.owl PNS - somatic|somatic part of peripheral nervous system|somatic nervous system, somatic division|somatic peripheral nervous system owl:Class HGNC:9438 biolink:NamedThing PRKRA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001832 biolink:NamedThing sublingual gland the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland tmpak2llvmy_mondo_relaxed.owl ductus sublingualis|glandula sublingualis|Rivinus gland|Rivinus' gland|submaxillary gland|sublingual salivary gland owl:Class NCBITaxon:7776 biolink:NamedThing Gnathostomata tmpak2llvmy_mondo_relaxed.owl Gnathostomata|jawed vertebrates GC_ID:1 ncbi_taxonomy owl:Class CL:0000351 biolink:NamedThing trophoblast cell A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface. tmpak2llvmy_mondo_relaxed.owl trophoblastic cell FMA:83028 cell owl:Class UBERON:0002486 biolink:NamedThing glottis the vocal apparatus of the larynx, which includes the vocal cords and the opening between them tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0009032 biolink:NamedThing B cell of appendix A B cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl B cell of appendix vermiformis|B cell of vermiform appendix|appendix B cell owl:Class UBERON:0002110 biolink:NamedThing gall bladder An organ that aids digestion and stores bile produced by the liver[WP]. tmpak2llvmy_mondo_relaxed.owl vesica fellea|gallbladder|vesica biliaris|gall bladder owl:Class UBERON:0003716 biolink:NamedThing recurrent laryngeal nerve A branch of the vagus nerve that supplies motor function and sensation to the larynx (voice box). It travels within the endoneurium. It is the nerve of the 6th Branchial Arch. tmpak2llvmy_mondo_relaxed.owl ramus recurrens|inferior laryngeal nerve|nervus laryngeus recurrens|recurrent laryngeal nerve from vagus nerve|vagus X nerve recurrent laryngeal branch|recurrent nerve owl:Class UBERON:0001759 biolink:NamedThing vagus nerve Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart). tmpak2llvmy_mondo_relaxed.owl vagus|nervus vagus [x]|vagus nerve tree|vagus nerve or its root|vagal nerve|nervus vagus|vagus X nerve|cranial nerve X|nerve X|tenth cranial nerve|10n|CN-X|pneuomgastric nerve|vagus nerve [X] owl:Class MONDO:0011184 biolink:NamedThing childhood apraxia of speech tmpak2llvmy_mondo_relaxed.owl childhood apraxia of speech|speech and language disorder with orofacial dyspraxia|CAS|speech-language disorder-1|speech-language disorder 1|developmental verbal apraxia|developmental apraxia of speech|das|articulatory apraxia|SPCH1|speech-language disorder type 1|developmental verbal dyspraxia SCTID:229703009|Orphanet:209908|ICD9:315.39|GARD:0012889|OMIM:602081 owl:Class HGNC:13875 biolink:NamedThing FOXP2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032268 biolink:NamedThing regulation of cellular protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl regulation of cellular protein metabolism owl:Class HP:0000230 biolink:NamedThing Gingivitis Inflammation of the gingiva. tmpak2llvmy_mondo_relaxed.owl Inflamed gums|Red and swollen gums|Gingival inflammation UMLS:C0017574|MSH:D005891|SNOMEDCT_US:66383009 human_phenotype owl:Class MONDO:0019493 biolink:NamedThing primary adult heart tumor Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms). tmpak2llvmy_mondo_relaxed.owl adult cardiac tumor|adult heart tumor UMLS:CN206280|Orphanet:874|ICD10:D15.1|UMLS:C4275152|ICD10:C38.0|SCTID:715403006 owl:Class N743372f5458c443a9dae58297ea60e7b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:11817 biolink:NamedThing TIMM8A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020490 biolink:NamedThing mosaic trisomy 9 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 9|Mosaic trisomy type 9|trisomy 9 mosaicism UMLS:CN035918|Orphanet:99776|ICD10:Q92.1|GARD:0000043|SCTID:764989007|MESH:C535454 https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 owl:Class MONDO:0700062 biolink:NamedThing mosaic A disease characteristic in which the cause of the disease is present in some of the cells of the organism. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:1071 biolink:NamedThing BMP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020731 biolink:NamedThing arbovirus infection A viral infection that is transmitted by an arthropod. tmpak2llvmy_mondo_relaxed.owl Arthropod-Borne Viral Infection|Arbovirus infection|Arthropod-borne viral infection|Arbovirus Infection|arbovirus infection|Infections, Arbovirus|Infection, Arbovirus|Arbovirus Infections|Arboviral disease|ARBOVIRUS INFECT|arthropod-borne viral infection NCIT:C34396|SCTID:40610006|MESH:D001102|UMLS:C0003723|EFO:1001269 owl:Class NCBITaxon:6943 biolink:NamedThing Amblyomma americanum tmpak2llvmy_mondo_relaxed.owl Haemalastor americanus|Lone Star tick GC_ID:1 ncbi_taxonomy owl:Class GO:0002384 biolink:NamedThing hepatic immune response An immune response taking place in the liver. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015477 biolink:NamedThing axillary fat pad A fat pad that is part of a axilla. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009472 biolink:NamedThing axilla The axilla is the area directly under the joint where the forelimb connects to the shoulder. tmpak2llvmy_mondo_relaxed.owl underarm|axillary region|arm pit|regio axillaris|axilla|oxter|armpit|armpits|axillae owl:Class UBERON:0003963 biolink:NamedThing otic ganglion The ganglion that supplies nerve fibers to the parotid gland tmpak2llvmy_mondo_relaxed.owl ganglion oticum|otic parasympathetic ganglion|Arnold's ganglion owl:Class UBERON:0001649 biolink:NamedThing glossopharyngeal nerve Cranial nerve that branches into the ramus communicans (to the skin), the pretrematic (to the walls of the pharynx and mouth, viscero-sensory fibers), and the larval post-trematic branch (lost in the adult). tmpak2llvmy_mondo_relaxed.owl ninth cranial nerve|glossopharyngeal IX nerve|9n|nervus glossopharyngeus|glossopharyngeal nerve tree|CN-IX|glossopharyngeal IX|nervus glossopharyngeus [ix]|glossopharyngeal nerve [IX]|nerve IX|cranial nerve IX owl:Class UBERON:0010223 biolink:NamedThing left pupil A pupil that is part of a left eye. tmpak2llvmy_mondo_relaxed.owl pupil of left eye owl:Class UBERON:0004548 biolink:NamedThing left eye An eye that is part of a left side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left eyeball|left orbital region|left orbital part of face owl:Class UBERON:0001648 biolink:NamedThing vestibulocochlear nerve Cranial nerve that transmits sound and equilibrium (balance) information from the inner ear to the brain. tmpak2llvmy_mondo_relaxed.owl cochleovestibular nerve|cochlear-vestibular nerve|nervus vestibulocochlearis [viii]|vestibulocochlear nerve [VIII]|8n|nervus vestibulocochlearis|acoustic VIII nerve|CN-VIII|VIIIth cranial nerve|statoacoustic nerve|VIII nerve|nervus statoacusticus|cranial nerve VIII|nervus octavus|vestibulocochlear VIII nerve|acoustic nerve (Crosby)|octaval nerve|vestibulocochlear nerve tree|acoustic nerve|stato-acoustic nerve|eighth cranial nerve owl:Class UBERON:0001720 biolink:NamedThing cochlear nucleus Any of the nuclei of the cochlear nuclear complex. tmpak2llvmy_mondo_relaxed.owl vestibulocochlear nucleus|cochlear VIII nucleus|cochlear nucleus of acoustic nerve|cochlear nucleus of eighth cranial nerve|statoacoustic (VIII) nucleus|nucleus of cochlear nerve owl:Class OBO:CHR_9606-chr15 biolink:NamedThing chr15 (Human) tmpak2llvmy_mondo_relaxed.owl 101991189 0 hg38 owl:Class GO:0070254 biolink:NamedThing mucus secretion The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. tmpak2llvmy_mondo_relaxed.owl mucus production owl:Class HGNC:2187 biolink:NamedThing COL11A2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:90 biolink:NamedThing ACADS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003039 biolink:NamedThing detection of reduced oxygen by carotid body chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body. tmpak2llvmy_mondo_relaxed.owl detection of reduced oxygen by carotid body chemoreceptor signalling owl:Class GO:0003029 biolink:NamedThing detection of hypoxic conditions in blood by carotid body chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies. tmpak2llvmy_mondo_relaxed.owl detection of hypoxic conditions in blood by carotid body chemoreceptor signalling owl:Class GO:0019730 biolink:NamedThing antimicrobial humoral response An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046323 biolink:NamedThing glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle. tmpak2llvmy_mondo_relaxed.owl glucose uptake owl:Class UBERON:0005233 biolink:NamedThing medial-nasal process ectoderm An ectoderm that is part of a medial nasal prominence [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003117 biolink:NamedThing pharyngeal arch 6 The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles tmpak2llvmy_mondo_relaxed.owl gill arch 4|visceral arch 6|6th arch|sixth visceral arch|sixth branchial arch|6th pharyngeal arch|branchial arch 4|fourth branchial arch|sixth pharyngeal arch|6th visceral arch owl:Class MONDO:0021670 biolink:NamedThing post-infectious syndrome tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010320 biolink:NamedThing retinitis pigmentosa 23 Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 23|RP 23|retinitis pigmentosa 23|retinitis pigmentosa caused by mutation in OFD1|OFD1 retinitis pigmentosa|RP23 DOID:0110412|UMLS:C1419610|GARD:0010391|ICD10:H35.5|OMIM:300424 https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23 owl:Class HGNC:2567 biolink:NamedThing OFD1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071941 biolink:NamedThing nitrogen cycle metabolic process A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016301 biolink:NamedThing kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl phosphokinase activity owl:Class HGNC:7154 biolink:NamedThing MME tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000113 biolink:NamedThing post-juvenile adult stage The stage of being a sexually mature adult animal. tmpak2llvmy_mondo_relaxed.owl adult stage owl:Class UBERON:0002392 biolink:NamedThing nasolacrimal duct the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity tmpak2llvmy_mondo_relaxed.owl d. nasolacrimalis|tear duct|nasolacrimal duct - posterior naris owl:Class MONDO:0005394 biolink:NamedThing brain infarction Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. tmpak2llvmy_mondo_relaxed.owl UMLS:C0751955|EFO:0004277|DOID:3454|MESH:D020520 owl:Class MONDO:0012834 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 10 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene. tmpak2llvmy_mondo_relaxed.owl IRF5 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 10|systemic lupus erythematosus, susceptibility to, 10|systemic lupus erythematosus, susceptibility to, type 10|SLEB10|systemic lupus erythematosus (disease) caused by mutation in IRF5 OMIM:612251 owl:Class MONDO:0008521 biolink:NamedThing tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. tmpak2llvmy_mondo_relaxed.owl tarsal carpal coalition syndrome|tarsal-carpal coalition syndrome|TCC|synostosis of talus and calcaneus with short stature UMLS:C1861305|DOID:0050789|SCTID:702312009|OMIM:186570|EFO:0008965|GARD:0009225|ICD9:756.9|Orphanet:1412|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome owl:Class MONDO:0020597 biolink:NamedThing angiokeratoma of scrotum An angiokeratoma that is located on the scrotum. tmpak2llvmy_mondo_relaxed.owl fordyce angiokeratoma|scrotal fordyce-type angiokeratoma|angiokeratoma of the scrotum|fordyce-type angiokeratoma of the scrotum|scrotum angiokeratoma|scrotal angiokeratoma|angiokeratoma of fordyce|fordyce-type angiokeratoma of scrotum|angiokeratoma of scrotum SCTID:735082004|NCIT:C7752 owl:Class UBERON:0001300 biolink:NamedThing scrotum the external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014818 biolink:NamedThing nephrotic syndrome, type 13 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. tmpak2llvmy_mondo_relaxed.owl NPHS13|nephrotic syndrome, type 13|familial nephrotic syndrome caused by mutation in NUP205|NUP205 familial nephrotic syndrome|nephrotic syndrome, type 13; NPHS13 DOID:0080381|OMIM:616893|UMLS:C4225165 owl:Class UBERON:0009885 biolink:NamedThing interlobar artery An artery that supplies a renal lobe. tmpak2llvmy_mondo_relaxed.owl renal interlobar artery|kidney interlobar artery|interlobar arteries of kidney|arteriae interlobares renis|interlobar artery of kidney|set of interlobar arteries of kidney owl:Class MONDO:0007007 biolink:NamedThing Ureaplasma urethritis Infections with bacteria of the genus ureaplasma. tmpak2llvmy_mondo_relaxed.owl infection, Ureaplasma|Ureaplasma disease or disorder|Ureaplasma caused disease or disorder|Ureaplasma infection|infections, Ureaplasma|Ureaplasma infectious disease EFO:1001225|SCTID:51105006|MESH:D016869 owl:Class NCBITaxon:2129 biolink:NamedThing Ureaplasma tmpak2llvmy_mondo_relaxed.owl PMID:11034506|PMID:8782697|GC_ID:4|PMID:1906731|PMID:2223597 ncbi_taxonomy owl:Class ENVO:01000256 biolink:NamedThing mineral material A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006941 biolink:NamedThing striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. tmpak2llvmy_mondo_relaxed.owl sarcomeric muscle contraction owl:Class ENVO:01001682 biolink:NamedThing air mass An object which is composed of a continuous mass of air. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002005 biolink:NamedThing air The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008244 biolink:NamedThing piebaldism Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. tmpak2llvmy_mondo_relaxed.owl piebald trait|piebaldism|partial albinism|PBT DOID:3263|OMIM:172800|UMLS:C0080024|GARD:0004344|ICD10:E70.39|NCIT:C85009|MESH:D016116|ICD10:E70.3|ICD9:270.2|SCTID:6479008|Orphanet:2884 https://rarediseases.info.nih.gov/diseases/4344/piebaldism owl:Class HP:0002226 biolink:NamedThing White eyebrow White color (lack of pigmentation) of the eyebrow. tmpak2llvmy_mondo_relaxed.owl Pale eyebrow|Hypopigmented eyebrow|White eyebrow|Grey eyebrow|Depigmented eyebrow|Blonde eyebrow UMLS:C4280579|UMLS:C1836737|UMLS:C4280580 HP:0002228|HP:0004536 human_phenotype owl:Class HGNC:10938 biolink:NamedThing SLC19A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005206 biolink:NamedThing choroid plexus stroma Stromal matrix surrounding blood vessels within the choroid plexus. tmpak2llvmy_mondo_relaxed.owl choroid plexus stromal matrix owl:Class CL:0000235 biolink:NamedThing macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpak2llvmy_mondo_relaxed.owl histiocyte CALOHA:TS-0587|FMA:63261|FMA:83585|BTO:0000801 Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class GO:0051216 biolink:NamedThing cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpak2llvmy_mondo_relaxed.owl cartilage formation|cartilage biosynthesis|cartilage biogenesis|cartilage element development|chondrogenesis|cartilage organ development owl:Class GO:0001501 biolink:NamedThing skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). tmpak2llvmy_mondo_relaxed.owl skeletal development owl:Class MONDO:0013042 biolink:NamedThing atypical hemolytic-uremic syndrome with B factor anomaly tmpak2llvmy_mondo_relaxed.owl aHUS with B factor anomaly|atypical HUS with B factor anomaly|AHUS4|susceptibility to atypical hemolytic uremic syndrome 4|hemolytic uremic syndrome, atypical, susceptibility to, 4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|D-HUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 4|aHUS, susceptibility to, 4|aHUS4 ICD10:D58.8|OMIM:612924|Orphanet:93578 owl:Class HGNC:1037 biolink:NamedThing CFB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035815 biolink:NamedThing paracardial fat Fat deposits in the mediastinum outside the parietal pericardium . tmpak2llvmy_mondo_relaxed.owl intrathoracic fat owl:Class UBERON:0002408 biolink:NamedThing parietal serous pericardium Parietal serous membrane which is part of the pericardium and forms the outer layer of the pericardial sac. tmpak2llvmy_mondo_relaxed.owl pericardial sac|lamina parietalis pericardii|parietal layer of serous pericardium|lamina parietalis (pericardii serosum)|parietal pericardium owl:Class UBERON:0011090 biolink:NamedThing skeleton of right pelvic girdle A skeleton of pelvic girdle that is part of a right pelvic girdle region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013948 biolink:NamedThing peroxisome biogenesis disorder 10A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 10A (Zellweger)|PBD10A|peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder, complementation group G UMLS:C3553999|OMIM:614882|DOID:0080484 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100356 biolink:NamedThing classic presentation A severe form of a genetic disease. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class GO:1901342 biolink:NamedThing regulation of vasculature development Any process that modulates the frequency, rate or extent of vasculature development. tmpak2llvmy_mondo_relaxed.owl regulation of vascular system development owl:Class GO:0001944 biolink:NamedThing vasculature development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. tmpak2llvmy_mondo_relaxed.owl vascular system development owl:Class CHEBI:17895 biolink:NamedThing L-tyrosine An optically active form of tyrosine having L-configuration. tmpak2llvmy_mondo_relaxed.owl Tyrosine|(S)-alpha-amino-4-hydroxybenzenepropanoic acid|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid|L-tyrosine|Tyr|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|(S)-3-(p-Hydroxyphenyl)alanine|TYROSINE|L-Tyrosine|(S)-(-)-Tyrosine|Y|4-hydroxy-L-phenylalanine|(S)-Tyrosine|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|L-Tyrosin owl:Class UBERON:0001166 biolink:NamedThing pylorus the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum tmpak2llvmy_mondo_relaxed.owl valvula pylori|pars pylorica|pyloric region|stomach pyloric region|pars pylorica gastricae|pyloric part of stomach owl:Class UBERON:0008858 biolink:NamedThing pyloric canal The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter tmpak2llvmy_mondo_relaxed.owl canalis pyloricus owl:Class UBERON:0010709 biolink:NamedThing pelvic complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. tmpak2llvmy_mondo_relaxed.owl lower limb and pelvis|lower limb and pelvic girdle|lower limb|pelvic girdle plus pelvic limb or fin|pelvic girdle plus posterior limb or fin|pelvic appendage/girdle complex owl:Class UBERON:0012476 biolink:NamedThing skeleton of pelvic complex The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. tmpak2llvmy_mondo_relaxed.owl lower limb skeleton|skeleton of posterior limb/fin and girdle|set of bones of lower limb|pelvic complex skeleton|ossa membri inferioris|bones of lower limb owl:Class GO:0045190 biolink:NamedThing isotype switching The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. tmpak2llvmy_mondo_relaxed.owl class switch recombination|isotype switch recombination|class switching owl:Class CHEBI:61469 biolink:NamedThing polyanionic polymer A polymer, composed of polyanion macromolecules. tmpak2llvmy_mondo_relaxed.owl polyanions|polyanion owl:Class CHEBI:53309 biolink:NamedThing polyanionic macromolecule A polymer carrying multiple negative charges. tmpak2llvmy_mondo_relaxed.owl polyanion|polyanions owl:Class UBERON:0002294 biolink:NamedThing biliary system Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). tmpak2llvmy_mondo_relaxed.owl biliary apparatus|biliary tract owl:Class GO:0006699 biolink:NamedThing bile acid biosynthetic process The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. tmpak2llvmy_mondo_relaxed.owl bile acid anabolism|bile acid synthesis|bile acid formation|bile acid biosynthesis owl:Class UBERON:0002405 biolink:NamedThing immune system Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000066 biolink:NamedThing fully formed stage The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. tmpak2llvmy_mondo_relaxed.owl fully formed animal stage|juvenile-adult stage|adult stage owl:Class OBO:CHR_9606-chr6q biolink:NamedThing chr6q (Human) tmpak2llvmy_mondo_relaxed.owl 170805979 59800000 hg38 owl:Class OBO:CHR_9606-chr19q13.1 biolink:NamedThing chr19q13.1 (Human) tmpak2llvmy_mondo_relaxed.owl 38200000 31900000 hg38 owl:Class OBO:CHR_9606-chr19q13 biolink:NamedThing chr19q13 (Human) tmpak2llvmy_mondo_relaxed.owl 58617616 31900000 hg38 owl:Class UBERON:0007827 biolink:NamedThing external nose External part of the nose containing the external nares. tmpak2llvmy_mondo_relaxed.owl nose owl:Class HGNC:7716 biolink:NamedThing NDUFV1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007501 biolink:NamedThing arborizing epithelial duct system A collection of connected epithelial tubes with a single portal. tmpak2llvmy_mondo_relaxed.owl arborising epithelial duct system owl:Class UBERON:0010321 biolink:NamedThing skeletal element of eye region A skeletal element that is part of a orbital region. tmpak2llvmy_mondo_relaxed.owl skeletal element of orbital region|eye skeleton|ocular skeleton owl:Class UBERON:0004088 biolink:NamedThing orbital region The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present tmpak2llvmy_mondo_relaxed.owl orbital part of eye|content of orbital part of eye|ocular and peri-ocular region|orbital part of face|ocular region|orbital content|eye region owl:Class MONDO:0009617 biolink:NamedThing microcephaly 1, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. tmpak2llvmy_mondo_relaxed.owl premature chromosome condensation with microcephaly and intellectual disability|premature chromosome condensation syndrome|microcephaly 1, primary, autosomal recessive|premature chromosome condensation with microcephaly and mental retardation|MCPH1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in MCPH1|PCC syndrome|MCPH1 Orphanet:52183|DOID:0070285|MESH:C565384|OMIM:251200|UMLS:C1855081 owl:Class HGNC:6954 biolink:NamedThing MCPH1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005212 biolink:NamedThing Leydig cell region of testis The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.. tmpak2llvmy_mondo_relaxed.owl interstitium of testis|testis interstitial tissue|testis interstitium|testis - interstitial|interstitium of the testis owl:Class UBERON:0000473 biolink:NamedThing testis A gonad of a male animal. A gonad produces and releases sperm. tmpak2llvmy_mondo_relaxed.owl testes|male gonad|testicle|gonad of male genitalia|orchis|gonad of male reproductive system|testiculus owl:Class MONDO:0013137 biolink:NamedThing choroidal dystrophy, central areolar 2 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpak2llvmy_mondo_relaxed.owl choroidal dystrophy, central areolar type 2|macular dystrophy, progressive|PRPH2 central areolar choroidal dystrophy|central areolar choroidal dystrophy caused by mutation in PRPH2|CACD2|choroidal dystrophy, central areolar 2 MESH:C567750|UMLS:C2751290|OMIM:613105 owl:Class HGNC:9942 biolink:NamedThing PRPH2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010330 biolink:NamedThing eyelid mesenchyme Mesenchyme that is part of a developing eyelid. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006076 biolink:NamedThing caudal region of vertebral column Subdivision of vertebral column that corresponds to the caudal subdivision of the body, containing the caudal vertebrae. tmpak2llvmy_mondo_relaxed.owl axial skeleton tail region|caudal region|postsacral region|caudal skeleton|tail region|caudal vertebrae series owl:Class MONDO:0005743 biolink:NamedThing encephalitozoonosis Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. tmpak2llvmy_mondo_relaxed.owl infection by Encephalitozoon ICD9:136.8|EFO:0007250|DOID:4270|UMLS:C0085412|MESH:D016890|SCTID:12825006 owl:Class NCBITaxon:27973 biolink:NamedThing Encephalitozoon hellem tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014808 biolink:NamedThing congenital secretory sodium diarrhea 8 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. tmpak2llvmy_mondo_relaxed.owl secretory diarrhea caused by mutation in SLC9A3|diarrhea 8, secretory sodium, congenital|diarrhea, congenital sodium|congenital secretory sodium diarrhea type 8|DIAR8|SLC9A3 secretory diarrhea ICD10:P78.3|UMLS:CN515063|DOID:0060777|OMIM:616868 owl:Class HGNC:11073 biolink:NamedThing SLC9A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021019 biolink:NamedThing X-linked recessive ocular albinism X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. tmpak2llvmy_mondo_relaxed.owl X-linked ocular albinism|albinism, ocular, type I|Nettleship-Falls syndrome|OA1|ocular albinism, Nettleship-Falls type|Nettleship-Falls type ocular albinism|ocular albinism type 1|albinism, ocular, type 1|XLOA Orphanet:54|GARD:0008471|UMLS:C0342684|MESH:C537863|SCTID:78642008|NCIT:C118785|ICD10:E70.3|ICD9:270.2|OMIM:300500 owl:Class HP:0001419 biolink:NamedThing X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. tmpak2llvmy_mondo_relaxed.owl X-linked recessive UMLS:C1845977 human_phenotype owl:Class UBERON:0015410 biolink:NamedThing heart plus pericardium tmpak2llvmy_mondo_relaxed.owl heart/pericardium owl:Class MONDO:0005709 biolink:NamedThing common cold An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. tmpak2llvmy_mondo_relaxed.owl acute nasopharyngitis|nasopharyngitis - acute|acute coryza|acute nasopharyngitis [common cold]|nasopharyngitis, acute|rhino-sinusitis|acute rhinitis|acute viral rhinopharyngitis MESH:D003139|EFO:0007214|ICD10:J00|UMLS:C0009443|DOID:10459|ICD9:460|NCIT:C34500|SCTID:82272006 owl:Class MONDO:0024565 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome 1 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4|ectodermal dysplasia-syndactyly syndrome 1|NECTIN4 ectodermal dysplasia-syndactyly syndrome|EDSS1 UMLS:C3150807|OMIM:613573 owl:Class HGNC:19688 biolink:NamedThing NECTIN4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014451 biolink:NamedThing focal segmental glomerulosclerosis 7 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. tmpak2llvmy_mondo_relaxed.owl FSGS7|focal segmental glomerulosclerosis type 7|glomerulosclerosis, focal segmental, 7|PAX2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in PAX2|focal segmental glomerulosclerosis 7 ICD10:N04.1|UMLS:C4014925|OMIM:616002|DOID:0111132 owl:Class HGNC:8616 biolink:NamedThing PAX2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000949 biolink:NamedThing endocrine system Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. tmpak2llvmy_mondo_relaxed.owl endocrine glandular system|systema endocrinum|endocrine system owl:Class HGNC:19139 biolink:NamedThing POMGNT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19687 biolink:NamedThing EIF2AK4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003587 biolink:NamedThing pediatric liposarcoma A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpak2llvmy_mondo_relaxed.owl pediatric liposarcoma|liposarcoma|childhood liposarcoma DOID:5695|NCIT:C8091|UMLS:C0279984 owl:Class HP:0011463 biolink:NamedThing Childhood onset Onset of disease at the age of between 1 and 5 years. tmpak2llvmy_mondo_relaxed.owl Symptoms begin in childhood UMLS:C1837352 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). peter 2012-03-25T07:16:20Z HP:0003586|HP:0003617 human_phenotype owl:Class MONDO:0024341 biolink:NamedThing retinal cell neoplasm A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. tmpak2llvmy_mondo_relaxed.owl retinal cell tumor|retinal neural cell neoplasm|retinal cell neoplasm UMLS:C1335765|NCIT:C7061 owl:Class MONDO:0009293 biolink:NamedThing glycogen storage disease V Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. tmpak2llvmy_mondo_relaxed.owl glycogen storage disease, type V|muscle glycogen phosphorylase deficiency|glycogen storage disease type 5|GSD type 5|McArdle type glycogen storage disease|GSD due to muscle glycogen phosphorylase deficiency|glycogenosis due to muscle glycogen phosphorylase deficiency|Pygm deficiency|glycogen storage disease caused by mutation in PYGM|glycogen storage disease type V|Mcardle disease|myophosphorylase deficiency|GSD type V|glycogenosis type V|glycogen storage disease 5|PYGM glycogen storage disease|McArdle disease|glycogen storage disease V|glycogenosis type 5|GSD 5|McArdle's disease|GSD5|glycogen storage disease due to muscle glycogen phosphorylase deficiency MESH:D006012|OMIM:232600|UMLS:C0017924|MedDRA:10018462|SCTID:55912009|NCIT:C84738|GARD:0006528|ICD10:E74.0|ICD10:E74.04|Orphanet:368|DOID:2746 owl:Class HGNC:9726 biolink:NamedThing PYGM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011403 biolink:NamedThing left ventricular noncompaction 1 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. tmpak2llvmy_mondo_relaxed.owl left ventricular noncompaction caused by mutation in DTNA|LVNC1|left ventricular noncompaction 1 with or without congenital heart defects|DTNA left ventricular noncompaction|left ventricular noncompaction 1|left ventricular noncompaction type 1 OMIM:604169|UMLS:C1858725 owl:Class HGNC:3057 biolink:NamedThing DTNA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013191 biolink:NamedThing ovarian cortex the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles. tmpak2llvmy_mondo_relaxed.owl cortex ovarii (zona parenchymatosa)|cortex of ovary owl:Class MONDO:0014266 biolink:NamedThing age related macular degeneration 15 Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene. tmpak2llvmy_mondo_relaxed.owl C9 age-related macular degeneration|macular degeneration, age-related, 15|macular Degeneration, age-related, type 15|age related macular degeneration type 15|age-related macular degeneration caused by mutation in C9|ARMD15 DOID:0110027|OMIM:615591|UMLS:C3810042 owl:Class HGNC:1358 biolink:NamedThing C9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015010 biolink:NamedThing atypical glycine encephalopathy Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. tmpak2llvmy_mondo_relaxed.owl Glycine encephalopathy with normal serum Glycine|atypical NKA|GLYCINE encephalopathy with normal serum GLYCINE|atypical non-ketotic hyperglycinemia OMIM:617301|ICD10:E72.5|Orphanet:289863|UMLS:C4310943 owl:Class HGNC:11056 biolink:NamedThing SLC6A9 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003843 biolink:NamedThing dental epithelium Epithelium that is part of a developing tooth or dental organ. tmpak2llvmy_mondo_relaxed.owl odontogenic epithelium|dental epithelium|tooth epithelium|reduced enamel epithelium|dental epithelia owl:Class GO:0010892 biolink:NamedThing positive regulation of mitochondrial translation in response to stress Any process that activates or increases the frequency, rate or extent of mitochondrial translation as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012083 biolink:NamedThing lumen of primary bronchus An anatomical cavity that is part of a main bronchus. tmpak2llvmy_mondo_relaxed.owl lumen of main bronchus|principal bronchial lumen|main bronchial lumen owl:Class MONDO:0014568 biolink:NamedThing hereditary spastic paraplegia 73 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. tmpak2llvmy_mondo_relaxed.owl SPG73|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C|hereditary spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|autosomal dominant spastic paraplegia type 73|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant spastic paraplegia 73 OMIM:616282|ICD10:G11.4|Orphanet:444099|UMLS:C4225387|DOID:0110818 owl:Class HGNC:18540 biolink:NamedThing CPT1C tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9446 biolink:NamedThing PRLR tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000036 biolink:NamedThing sedimentation in a water body A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000010 biolink:NamedThing material transport process A process during which material is displaced from its original location and transported either to a new location or back to the original location. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006257 biolink:NamedThing jejunal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl jejunum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunum NET G1|jejunum neuroendocrine neoplasm G1|carcinoid tumor of jejunum|jejunal carcinoid tumor|jejunal NET G1|carcinoid tumor of the jejunum|jejunum carcinoid tumor NCIT:C6429|UMLS:C1334296|EFO:1000308 owl:Class UBERON:0002115 biolink:NamedThing jejunum the portion of the small intestine that extends from the duodenum to the ileum tmpak2llvmy_mondo_relaxed.owl intestinum jejunum|mid-intestine|middle intestine owl:Class MONDO:0017574 biolink:NamedThing chronic intestinal pseudoobstruction Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. tmpak2llvmy_mondo_relaxed.owl cipo|intestinal pseudo-obstruction, chronic|chronic intestinal pseudo-obstruction ICD10:K59.8|GARD:0012744|Orphanet:2978|SCTID:235828008 https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction owl:Class UBERON:0005448 biolink:NamedThing greater omentum The greater omentum (also the great omentum, omentum majus, gastrocolic omentum, epiploön, or, especially in animals, caul) is a large fold of peritoneum that hangs down from the stomach, and extends from the stomach to the posterior abdominal wall after associating with the transverse colon. tmpak2llvmy_mondo_relaxed.owl epiploic|epiploon|great omentum|omentectomy|epiploön|gastrocolic omentum|caul|omentum majus|epiplooen owl:Class UBERON:0001164 biolink:NamedThing greater curvature of stomach The greater curvature of the stomach is directed mainly forward, and is four or five times as long as the lesser curvature. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl stomach greater curvature owl:Class GO:0033602 biolink:NamedThing negative regulation of dopamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. tmpak2llvmy_mondo_relaxed.owl down-regulation of dopamine secretion|down regulation of dopamine secretion|inhibition of dopamine secretion|downregulation of dopamine secretion owl:Class GO:0014046 biolink:NamedThing dopamine secretion The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014008 biolink:NamedThing phosphohydroxylysinuria tmpak2llvmy_mondo_relaxed.owl PHOSPHOHYDROXYLYSINURIA|PHLU|phosphohydroxylysinuria|Phosphohydroxylysinuria OMIM:615011|UMLS:C3554344 owl:Class UBERON:0001665 biolink:NamedThing triceps surae The triceps surae is a pair of muscles located at the calf - the gastrocnemius and the soleus. These muscles both insert into the calcaneus, the bone of the heel of the human foot, and form the major part of the muscle of the back part of the lower leg, commonly known as the calf muscle. The triceps surae is connected to the foot through the Achilles tendon, and has 3 heads deriving from the 2 major masses of muscle. The superficial portion (the gastrocnemius) gives off 2 heads attaching to the base of the femur directly above the knee. The deep (profundis) mass of muscle (the soleus) forms the remaining head which attaches to the superior posterior area of the tibia. The triceps surae is innervated by the tibial nerve, specifically, nerve roots L5-S2. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl gastrosoleus complex|sural triceps|calf muscle|gastrosoleus|musculus triceps surae owl:Class GO:0002643 biolink:NamedThing regulation of tolerance induction Any process that modulates the frequency, rate, or extent of tolerance induction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010933 biolink:NamedThing autosomal recessive nonsyndromic deafness 4 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 4 with enlarged vestibular aqueduct|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|dilated vestibular aqueduct|neurosensory nonsyndromic recessive deafness 4|DFNB4|autosomal recessive nonsyndromic deafness type 4 DOID:0110498|ICD10:H90.3|MESH:C566366|OMIM:600791 owl:Class N22552cece60f4d5f8afaa45b6977dfdf biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0000520 biolink:NamedThing Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. tmpak2llvmy_mondo_relaxed.owl Protrusio bulbi|Prominent eyes|Exophthalmos|Prominent globes|Bulging eye|Anterior bulging of the globe of eye|Protruding eyes|Anterior bulging of the globe|Ocular proptosis|Eyeballs bulging out MSH:D005094|UMLS:C1848490|UMLS:C1862425|SNOMEDCT_US:18265008|UMLS:C0015300|UMLS:C1837760 Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. HP:0000645|HP:0007870|HP:0000536|HP:0000644|HP:0007711 human_phenotype owl:Class UBERON:0003975 biolink:NamedThing internal female genitalia The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. tmpak2llvmy_mondo_relaxed.owl organa genitalia feminina interna|female internal genitalia|internal female genital organ|internal genitalia of female reproductive system owl:Class UBERON:0006291 biolink:NamedThing scapula pre-cartilage condensation A scapula endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007831 biolink:NamedThing pectoral girdle skeleton A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. tmpak2llvmy_mondo_relaxed.owl skeleton of pectoral girdle|pectoral girdle|cingulum pectorale|skeletal parts of pectoral girdle|scapular girdle owl:Class Nc072abf02ea74dac8b9e86bfef4299c4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0002715 biolink:NamedThing regulation of natural killer cell mediated immunity Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl regulation of natural killer cell activity|regulation of NK cell mediated immunity owl:Class GO:0002228 biolink:NamedThing natural killer cell mediated immunity The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. tmpak2llvmy_mondo_relaxed.owl NK cell mediated immunity owl:Class UBERON:0002108 biolink:NamedThing small intestine Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. tmpak2llvmy_mondo_relaxed.owl intestinum tenue|small intestine|anterior intestine|mid intestine|small bowel owl:Class MONDO:0022745 biolink:NamedThing mixed dust pneumoconiosis tmpak2llvmy_mondo_relaxed.owl Mixed dust pneumoconiosis|mixed dust pneumoconiosis|labrador lung SCTID:32139003|ICD9:504|UMLS:C0264436|GARD:0008374 owl:Class MONDO:0012498 biolink:NamedThing congenital stationary night blindness autosomal dominant 1 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness autosomal dominant type 1|night blindness, congenital stationary, autosomal dominant 1|rhodopsin-related congenital stationary night blindness|RHO congenital stationary night blindness|night blindness, congenital stationary, rhodopsin-related|night blindness, congenital stationary, autosomal dominant type 1|congenital stationary night blindness caused by mutation in RHO|CSNBAD1 DOID:0110862|OMIM:610445|UMLS:C1864869|MESH:C566474 owl:Class HGNC:10012 biolink:NamedThing RHO tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000114 biolink:NamedThing 20-year-old human stage Young adult stage that refers to an adult who is over 20 and under 21. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002331 biolink:NamedThing umbilical cord The connecting cord from the developing embryo to the placenta. tmpak2llvmy_mondo_relaxed.owl chorda umbilicalis|connecting stalk|funiculus umbilicalis|birth cord|yolk stalk owl:Class MONDO:0012854 biolink:NamedThing bilateral microtia-deafness-cleft palate syndrome This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. tmpak2llvmy_mondo_relaxed.owl microtia with or without hearing impairment|microtia, hearing impairment, and cleft palate UMLS:C2676772|Orphanet:140963|MESH:C567359|ICD10:Q87.0|OMIM:612290 owl:Class HGNC:5103 biolink:NamedThing HOXA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001677 biolink:NamedThing sphenoid bone An unpaired bone situated at the base of the skull in front of the temporal bone and basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended. tmpak2llvmy_mondo_relaxed.owl butterfly bone|sphenoidal bone|sphenoid|os sphenoidum|os sphenoidale|sphenoid complex owl:Class Nbd9c0fff434c439ab1f84e72e93aec5d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ENVO:01000817 biolink:NamedThing biosphere A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. tmpak2llvmy_mondo_relaxed.owl owl:Class PCO:0000000 biolink:NamedThing collection of organisms A material entity that consists of two or more organisms, viruses, or viroids. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003314 biolink:NamedThing eye mesenchyme Mesenchyme that is part of a developing camera-type eye. tmpak2llvmy_mondo_relaxed.owl mesenchyme of eye owl:Class GO:0016202 biolink:NamedThing regulation of striated muscle tissue development Any process that modulates the frequency, rate or extent of striated muscle development. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014706 biolink:NamedThing striated muscle tissue development The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022873 biolink:NamedThing corpus callosum dysgenesis cleft spasm tmpak2llvmy_mondo_relaxed.owl GARD:0001541 https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm owl:Class MONDO:0010383 biolink:NamedThing fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. tmpak2llvmy_mondo_relaxed.owl marker 10 syndrome|X-linked intellectual disability and macroorchidism|fragile 10 syndrome|fra(X) syndrome|mental retardation, X-linked, associated with Marxq28|Martin-Bell syndrome|FRAXA syndrome|fragile X intellectual disability syndrome|marker X syndrome|fragile 10 premature ovarian failure|fragile X syndrome|fragile X mental retardation syndrome|fragile 10 mental retardation syndrome|fragile 10 intellectual disability syndrome|FXS|intellectual disability, X-linked, associated with Marxq28|FraX syndrome|primary ovarian insufficiency, fragile X-associated|X-linked mental retardation and macroorchidism ICD10:Q99.2|MESH:D005600|NCIT:C84717|SCTID:613003|OMIM:300624|UMLS:C0016667|DOID:14261|Orphanet:908|MedDRA:10017324|ICD9:759.83|GARD:0006464 owl:Class HGNC:3775 biolink:NamedThing FMR1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000097 biolink:NamedThing mast cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. tmpak2llvmy_mondo_relaxed.owl tissue basophil|mastocyte|labrocyte|histaminocyte BTO:0000830|FMA:66784|CALOHA:TS-0603 Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. cell owl:Class GO:0002660 biolink:NamedThing positive regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. tmpak2llvmy_mondo_relaxed.owl up regulation of peripheral tolerance induction|up-regulation of peripheral tolerance induction|stimulation of peripheral tolerance induction|upregulation of peripheral tolerance induction|activation of peripheral tolerance induction owl:Class MONDO:0000262 biolink:NamedThing otomycosis Fungus infection of the external ear, usually by aspergillus species tmpak2llvmy_mondo_relaxed.owl Singapore ear|external ear fungal infectious disease|otitis mycotic externa SCTID:53316003|UMLS:C0029895|ICD9:111.8|MESH:D059249|DOID:0050147 owl:Class UBERON:0001691 biolink:NamedThing external ear Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. tmpak2llvmy_mondo_relaxed.owl auris externa|auricular region of head|auricular region|outer ear owl:Class UBERON:0002391 biolink:NamedThing lymph Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP]. tmpak2llvmy_mondo_relaxed.owl lympha owl:Class UBERON:0000913 biolink:NamedThing interstitial fluid Interstitial fluid is a bodily fluid consisting of a solution which bathes and surrounds the cells of multicellular animals. It is the main component of the extracellular fluid, which also includes plasma and transcellular fluid. tmpak2llvmy_mondo_relaxed.owl tissue fluid|intercellular fluid owl:Class GO:0004347 biolink:NamedThing glucose-6-phosphate isomerase activity Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. tmpak2llvmy_mondo_relaxed.owl D-glucose-6-phosphate aldose-ketose-isomerase activity|phosphohexomutase activity|phosphoglucose isomerase activity|phosphohexose isomerase activity|hexose phosphate isomerase activity|phosphoglucoisomerase activity|glucose phosphate isomerase activity|oxoisomerase activity|hexosephosphate isomerase activity|phosphosaccharomutase activity|phosphohexoisomerase activity|D-glucose-6-phosphate ketol-isomerase activity|hexose monophosphate isomerase activity owl:Class MONDO:0017876 biolink:NamedThing Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. tmpak2llvmy_mondo_relaxed.owl Guanarito hemorrhagic fever Orphanet:319234|SCTID:359673001|ICD10:A96.8|DOID:0050196|UMLS:C0042470 owl:Class NCBITaxon:45219 biolink:NamedThing Guanarito mammarenavirus tmpak2llvmy_mondo_relaxed.owl Guanarito virus|Guanarito arenavirus|GTOV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0022303 biolink:NamedThing nervous system cell part layer Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. tmpak2llvmy_mondo_relaxed.owl layer|lamina owl:Class PATO:0002124 biolink:NamedThing laminar A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003710 biolink:NamedThing ovarian mixed germ cell neoplasm An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl mixed germ cell tumor of the ovary|mixed germ cell neoplasm of the ovary|ovarian mixed germ cell neoplasm|ovarian mixed germ cell tumor|mixed germ cell tumor of ovary|mixed germ cell tumor|mixed germ cell neoplasm of ovary|ovary mixed germ cell tumor NCIT:C8114|DOID:5936|UMLS:C0280135|ONCOTREE:OMGCT owl:Class ENVO:01001088 biolink:NamedThing aerosolised liquids An aerosol which has non-gaseous parts that are primarily composed of liquid droplets. tmpak2llvmy_mondo_relaxed.owl liquid aerosol owl:Class UBERON:0013160 biolink:NamedThing epithalamus ventricular layer tmpak2llvmy_mondo_relaxed.owl ventricular layer of epithalamus|ventricular layer epithalamus owl:Class UBERON:0001899 biolink:NamedThing epithalamus Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346. tmpak2llvmy_mondo_relaxed.owl ETh|epithalamus owl:Class MONDO:0013794 biolink:NamedThing thrombocythemia 3 Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene. tmpak2llvmy_mondo_relaxed.owl thrombocytosis 3|thrombocythemia 3|THCYT3|JAK2 familial thrombocytosis|thrombocythemia type 3|familial thrombocytosis caused by mutation in JAK2 OMIM:614521|UMLS:C3281125 https://github.com/monarch-initiative/mondo/issues/230 owl:Class HGNC:6192 biolink:NamedThing JAK2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000082 biolink:NamedThing epithelial cell of lung An epithelial cell of the lung. tmpak2llvmy_mondo_relaxed.owl lung epithelial cell BTO:0004299 cell owl:Class UBERON:0011363 biolink:NamedThing cranial lymph vasculature A lymph vasculature that is part of a head. tmpak2llvmy_mondo_relaxed.owl set of cranial lymphatic vessels|cranial lymph vessels|cranial lymphatics|set of lymphatic vessels of head|cranial lymph vessel owl:Class MONDO:0014203 biolink:NamedThing primary ciliary dyskinesia 25 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 25|ciliary dyskinesia, primary, 25, with or without situs inversus|primary ciliary dyskinesia 25 with or without situs inversus|ciliary dyskinesia, primary, 25|CILD25|primary ciliary dyskinesia caused by mutation in DNAAF4|DNAAF4 primary ciliary dyskinesia|primary ciliary dyskinesia type 25 UMLS:C3809641|OMIM:615482|DOID:0110615|ICD10:Q34.8 owl:Class HGNC:21493 biolink:NamedThing DNAAF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014635 biolink:NamedThing microphthalmia, isolated, with coloboma 10 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in RBP4|RBP4 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 10|MCOPCB10|microphthalmia, isolated, with coloboma type 10 OMIM:616428|UMLS:C4225330 owl:Class HGNC:9922 biolink:NamedThing RBP4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002240 biolink:NamedThing spinal cord Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) tmpak2llvmy_mondo_relaxed.owl fissura cerebro-cerebellaris|cerebrocerebellar fissure|SpC|medulla spinalis|spinal cord structure|fissura cerebrocerebellaris|spinal medulla|cerebro-cerebellar fissure owl:Class ECTO:0001659 biolink:NamedThing exposure to chloroacetic acid An exposure to chloroacetic acid. tmpak2llvmy_mondo_relaxed.owl exposure to chloroacetic acid owl:Class CHEBI:27869 biolink:NamedThing chloroacetic acid A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. tmpak2llvmy_mondo_relaxed.owl monochloroacetic acid|chloroacetic acid|Acide monochloracetique|Acide chloroacetique|Monochloressigsaeure|2-chloroacetic acid|Chloroacetic acid|Chloroethanoic acid|monochloroethanoic acid|2-chloro-ethanoic acid|alpha-chloro-acetic acid|CAA|chloracetic acid|Acide chloracetique|2-chloro-acetic acid owl:Class HGNC:2770 biolink:NamedThing DES tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012233 biolink:NamedThing Li-Fraumeni syndrome 2 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. tmpak2llvmy_mondo_relaxed.owl Li-Fraumeni syndrome 2|Li-Fraumeni syndrome caused by mutation in CHEK2|Li-Fraumeni syndrome type 2|LFS2|CHEK2 Li-Fraumeni syndrome UMLS:C1836482|MESH:C563755|DOID:0111504|OMIM:609265 owl:Class HGNC:16627 biolink:NamedThing CHEK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012475 biolink:NamedThing cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. tmpak2llvmy_mondo_relaxed.owl cone dystrophy with supernormal rod ERG|retinal cone dystrophy type 3B|retinal cone dystrophy 3B|cone dystrophy with supernormal rod response|RCD3B|cone dystrophy with supernormal Rod responses|cone dystrophy with supernormal scotopic electroretinogram|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with supernormal rod electroretinogram Orphanet:209932|GARD:0010649|UMLS:C1835897|SCTID:719455002|ICD10:H35.5|UMLS:C4304714|OMIM:610356|MESH:C563678 owl:Class HGNC:16361 biolink:NamedThing WHRN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001912 biolink:NamedThing lobule of mammary gland Organ component of the mammary gland which consists of an aggregate of mammary alveoli that communicate with a lobular lactiferous duct.[FMA] tmpak2llvmy_mondo_relaxed.owl lactiferous lobule|mammary acinus|lactiferous gland lobule|lobule of lactiferous gland|acinus of mammary gland|mammary gland lobule|lobule of mammary gland|lactiferous acinus owl:Class CL:1000612 biolink:NamedThing kidney corpuscule cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001021 cell owl:Class UBERON:0001229 biolink:NamedThing renal corpuscle the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron tmpak2llvmy_mondo_relaxed.owl kidney corpuscle|corpusculum renis|corpusculum renale|cortical renal corpuscle|Malpighian corpuscle|Malphigian corpuscle owl:Class MONDO:0008120 biolink:NamedThing spinocerebellar ataxia type 7 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. tmpak2llvmy_mondo_relaxed.owl autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|spinocerebellar ataxia 7|ataxia with pigmentary retinopathy|cerebellar syndrome-pigmentary maculopathy syndrome|olivopontocerebellar atrophy 3|OPCA3|OPCA III|OPCA 3|ATXN7 autosomal dominant cerebellar ataxia type II|SCA7|OPCA with macular Degeneration and external ophthalmoplegia|spinocerebellar ataxia type 7|autosomal dominant cerebellar ataxia, type 2|ADCA, type II|OPCA with retinal Degeneration|Adca, type 2 SCTID:715726000|Orphanet:94147|OMIM:164500|DOID:0050958|ICD10:G11.8|UMLS:C0752125|GARD:0004955|NCIT:C126562 owl:Class HGNC:10560 biolink:NamedThing ATXN7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000085 biolink:NamedThing morula A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. tmpak2llvmy_mondo_relaxed.owl morula (2-16 cells) owl:Class ENVO:02500026 biolink:NamedThing anthropogenic modulatory intervention process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031175 biolink:NamedThing neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpak2llvmy_mondo_relaxed.owl neurite growth|neurite outgrowth|neurite formation|neurite biosynthesis|neurite development owl:Class MONDO:0012412 biolink:NamedThing complement component 7 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. tmpak2llvmy_mondo_relaxed.owl C7 classic complement early component deficiency|complement component 7 deficiency|C7D|classic complement early component deficiency caused by mutation in C7|C7 deficiency OMIM:610102|UMLS:C1864694|DOID:0060300|MESH:C566443|ICD10:D84.1 owl:Class HGNC:1346 biolink:NamedThing C7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014532 biolink:NamedThing white matter lamina of cerebral hemisphere tmpak2llvmy_mondo_relaxed.owl cerebral hemisphere lamina|lamina of cerebral hemisphere owl:Class UBERON:0010060 biolink:NamedThing pharyngeal opening of pharyngotympanic tube On the lateral wall of the nasal part of the pharynx is the pharyngeal opening of auditory tube (pharyngeal ostium), somewhat triangular in shape, and bounded behind by a firm prominence, the torus or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane. tmpak2llvmy_mondo_relaxed.owl ostium pharyngeum tubae auditivae|pharyngeal ostium of pharyngotympanic tube|ostium pharyngeum tubae auditoriae|pharyngeal orifice of pharyngotympanic tube|pharyngeal orifice of eustachian tube|pharyngeal opening of auditory tube|pharyngeal orifice of auditory tube|pharyngeal ostium of eustachian tube|pharyngeal ostium|pharyngeal ostium of auditory tube|pharyngeal tubal ostium|pharyngeal opening of eustachian tube owl:Class UBERON:0010061 biolink:NamedThing lumen of nasopharynx tmpak2llvmy_mondo_relaxed.owl nasopharynx cavity|nasopharynx lumen|nasopharyngeal luman owl:Class UBERON:0005124 biolink:NamedThing metanephric proximal convoluted tubule The metanephric proximal convoluted tubule is the most proximal portion of the metanephric proximal tubule and extends from the metanephric glomerular capsule to the metanephric proximal straight tubule[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000081 biolink:NamedThing metanephros In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO] tmpak2llvmy_mondo_relaxed.owl metanephron|metanephric kidney|definite kidney|definitive kidney|hind kidney owl:Class UBERON:0007119 biolink:NamedThing neck of femur The femur neck or neck of the femur is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward. tmpak2llvmy_mondo_relaxed.owl collum femoris|neck of the femur|femur neck|femoral neck owl:Class UBERON:0006863 biolink:NamedThing proximal metaphysis of femur A proximal metaphysis that is part of a femur. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100131 biolink:NamedThing pediatric acute respiratory distress syndrome Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded. tmpak2llvmy_mondo_relaxed.owl PARDS http://orcid.org/0000-0001-5208-3432 owl:Class HP:0410280 biolink:NamedThing Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. tmpak2llvmy_mondo_relaxed.owl Onset before adulthood|Paediatric onset 2018-11-01 15:27:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0005260 biolink:NamedThing autism Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpak2llvmy_mondo_relaxed.owl infantile autism|childhood autism|autism|autism spectrum disorder|autism, susceptiblity to|Kanner's syndrome|autistic disorder|autistic disorder of childhood onset|autism (disease) autism (disease) EFO:0003758|ICD10:F84.0|HP:0000717|NCIT:C97161|MESH:D001321|DOID:12849|ICD9:299.0 owl:Class OBO:CHR_9606-chr3q26 biolink:NamedThing chr3q26 (Human) tmpak2llvmy_mondo_relaxed.owl 183000000 161000000 hg38 owl:Class MONDO:0011784 biolink:NamedThing Moyamoya disease 2 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. tmpak2llvmy_mondo_relaxed.owl RNF213 Moyamoya disease|Moyamoya disease caused by mutation in RNF213|MYMY2|Moyamoya disease 2|Moyamoya disease type 2 UMLS:C1846689|OMIM:607151|MESH:C536992 owl:Class HGNC:14539 biolink:NamedThing RNF213 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014498 biolink:NamedThing familial cold autoinflammatory syndrome 4 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. tmpak2llvmy_mondo_relaxed.owl FCAS4|familial cold autoinflammatory syndrome caused by mutation in NLRC4|familial cold autoinflammatory syndrome 4|NLRC4-related familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome type 4|NLRC4 familial cold autoinflammatory syndrome UMLS:C4015276|Orphanet:576349|OMIM:616115|DOID:0090065|ICD10:L50.2 owl:Class HGNC:16412 biolink:NamedThing NLRC4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002429 biolink:NamedThing CD69-positive double-positive thymocyte A double-positive thymocyte that is CD69-positive and has begun positive selection. tmpak2llvmy_mondo_relaxed.owl T.DP69+.Th tmeehan 2010-10-21T02:11:52Z cell owl:Class GO:0043368 biolink:NamedThing positive T cell selection The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. tmpak2llvmy_mondo_relaxed.owl positive T-cell selection|positive T lymphocyte selection|positive T-lymphocyte selection owl:Class MONDO:0011622 biolink:NamedThing nephrolithiasis, uric acid, susceptibility to tmpak2llvmy_mondo_relaxed.owl urolithiasis, uric acid, susceptibility to|UAN|susceptibility to uric acid nephrolithiasis|nephrolithiasis, uric acid, susceptibility to OMIM:605990 owl:Class MONDO:0008171 biolink:NamedThing nephrolithiasis The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. tmpak2llvmy_mondo_relaxed.owl kidney stone|Stone - kidney/ureter|calculus of kidney and ureter|urolithiasis, calcium oxalate|renal calculi|CAON|kidney stones|nephrolithiasis, calcium oxalate NCIT:C114667|SCTID:266556005|ICD10:N20|EFO:0003845|ICD10:N20.2|EFO:0004253|MESH:D053040|ICD9:592|DOID:585|UMLS:C0392525|UMLS:C0156257 owl:Class MONDO:0007967 biolink:NamedThing melanoma and neural system tumor syndrome Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). tmpak2llvmy_mondo_relaxed.owl melanoma and neural system tumor syndrome|melanoma-astrocytoma syndrome|melanoma astrocytoma syndrome MESH:C536149|UMLS:C1835042|GARD:0008468|OMIM:155755|SCTID:717968005|Orphanet:252206|DOID:0111511 owl:Class HP:0002960 biolink:NamedThing Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. tmpak2llvmy_mondo_relaxed.owl Autoimmune condition|Autoimmunity|Autoimmune disorder|Autoimmune disease MSH:D001327|SNOMEDCT_US:85828009|UMLS:C0004364 human_phenotype owl:Class CHEBI:15956 biolink:NamedThing biotin An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins. tmpak2llvmy_mondo_relaxed.owl BIOTIN|biotin|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|biotina|Coenzyme R|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|vitamin B7|cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|biotine|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|Vitamin H|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|D-(+)-biotin|biotinum|D-Biotin|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid owl:Class CHEBI:57586 biolink:NamedThing biotinate Conjugate base of biotin arising from deprotonation of the carboxy group. tmpak2llvmy_mondo_relaxed.owl 5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotin|biotin anion owl:Class MONDO:0020779 biolink:NamedThing cartilage development disorder Any dysfunction in the growth of cartilage. tmpak2llvmy_mondo_relaxed.owl abnormal development of cartilage|Congenital anomaly of cartilage|chondrodystrophy|cartilage development disorder NCIT:C34466|UMLS:C0008449|ICD9:756.9|ICD9:756.4|SCTID:67988000 owl:Class MONDO:0044660 biolink:NamedThing menstrual cycle-dependent periodic fever tmpak2llvmy_mondo_relaxed.owl luteal-phase-dependent periodic fever|periodic fever, menstrual cycle-dependent|menstrual cycle-dependent febrile episode|luteal-phase-dependent febrile episode UMLS:C3553418|Orphanet:498251|OMIM:614674 owl:Class HGNC:5286 biolink:NamedThing HTR1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013150 biolink:NamedThing future brain vesicle tmpak2llvmy_mondo_relaxed.owl primary brain vesicle|secondary brain vesicle|brain vesicle|early brain vesicle|primitive brain vesicle owl:Class OBO:CHR_9606-chr2q3 biolink:NamedThing chr2q3 (Human) tmpak2llvmy_mondo_relaxed.owl 242193529 168900000 hg38 owl:Class OBO:CHR_9606-chr2q biolink:NamedThing chr2q (Human) tmpak2llvmy_mondo_relaxed.owl 242193529 93900000 hg38 owl:Class MONDO:0008862 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 2 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. tmpak2llvmy_mondo_relaxed.owl methylcrotonylglycinuria type 2|3-methylcrotonylglycinuria 2|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|methylcrotonylglycinuria, type 2|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|3-Methylcrotonyl-CoA carboxylase 2 deficiency|MCC2 deficiency|3 alpha methylcrotonylglycinuria 2|MCC 2 deficiency|3-METHYLCROTONYL-CoA carboxylase 2 deficiency|MCC2D OMIM:210210|GARD:0009151|DOID:0080580|MESH:C535309 owl:Class HGNC:6937 biolink:NamedThing MCCC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010337 biolink:NamedThing mandibular process mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a mandibular process mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002738 biolink:NamedThing acute transudative otitis media Acute form of non-suppurative otitis media. tmpak2llvmy_mondo_relaxed.owl acute secretory otitis media|non-suppurative otitis media, acute|acute non-suppurative otitis media|acute nonsuppurative otitis media|acute otitis media with effusion|acute transudative otitis media DOID:3697|ICD9:381.0|SCTID:359609001|ICD9:381.00|UMLS:C0271432|UMLS:C2939185 owl:Class MONDO:0014448 biolink:NamedThing hyperthyroxinemia, familial dysalbuminemic An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. tmpak2llvmy_mondo_relaxed.owl euthyroid hyperthyroxinemia 1|familial Dysalbuminemic hyperthyroidism|familial Dysalbuminemic hyperthyroxinemia|FDAH|hyperthyroxinemia, familial Dysalbuminemic|FDH|hyperthyroxinemia, familial dysalbuminemic SCTID:237547004|OMIM:615999|NCIT:C131813|MESH:D050010 owl:Class HGNC:399 biolink:NamedThing ALB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011951 biolink:NamedThing amyotrophic lateral sclerosis type 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 6 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|ALS6|autosomal recessive amyotrophic lateral sclerosis 6|FUS amyotrophic lateral sclerosis GARD:0009874|OMIM:608030|DOID:0060198|MESH:C567699 https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6 owl:Class HGNC:4010 biolink:NamedThing FUS tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000839 biolink:NamedThing kidney proximal straight tubule epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001046 cell owl:Class UBERON:0001297 biolink:NamedThing serosa of uterus Outer serosa layer of the uterus. tmpak2llvmy_mondo_relaxed.owl perimetrium|uterus serous membrane|tunica serosa (perimetrium)|serous membrane of uterus|uterine serosa|visceral peritoneum of uterus|serous coat of uterus|tunica serosa uteri|uterus serosa owl:Class UBERON:0000459 biolink:NamedThing uterine wall An anatomical wall that is part of a uterus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl wall of uterus|anatomical wall of uterus|uterus wall|uterus anatomical wall owl:Class MONDO:0100113 biolink:NamedThing hearing loss with skin disease Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4284 biolink:NamedThing GJB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012157 biolink:NamedThing congenital myasthenic syndrome 4C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl myasthenia, familial infantile, 1, formerly|Cms Id, formerly|myasthenic syndrome, congenital, type Id|Cms Id|congenital myasthenic syndrome type 4C|CMS Id|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|familial infantile myasthenia 1|CMS1D|FIM1|CMS4C|myasthenia, familial infantile, 1|congenital myasthenic syndrome type Id DOID:0110679|GARD:0010108|OMIM:608931 owl:Class HGNC:1966 biolink:NamedThing CHRNE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100035 biolink:NamedThing structural epilepsy Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 19:24:32+00:00 owl:Class UBERON:0009638 biolink:NamedThing orbitosphenoid ossification center tmpak2llvmy_mondo_relaxed.owl orbitosphenoid center owl:Class UBERON:0001052 biolink:NamedThing rectum the terminal portion of the intestinal tube, terminating with the anus tmpak2llvmy_mondo_relaxed.owl rectal sac|intestinum rectum|terminal portion of intestine|terminal portion of large intestine owl:Class MONDO:0003750 biolink:NamedThing childhood central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in children. tmpak2llvmy_mondo_relaxed.owl pediatric germ cell tumor of the central nervous system|pediatric germ cell tumor of CNS|childhood germ cell tumor of CNS|childhood germ cell neoplasm of the central nervous system|childhood CNS germ cell neoplasm|central nervous system childhood germ cell tumor|childhood CNS germ cell tumor|childhood germ cell neoplasm of the CNS|pediatric CNS germ cell neoplasm|childhood central nervous system germ cell neoplasm|central nervous system pediatric germ cell cancer|childhood germ cell neoplasm of CNS|childhood germ cell tumor of central nervous system|childhood germ cell tumor of the central nervous system|childhood germ cell tumor of the CNS|pediatric germ cell neoplasm of CNS|pediatric germ cell tumor of the CNS|pediatric germ cell neoplasm of central nervous system|pediatric germ cell neoplasm of the central nervous system|pediatric germ cell tumor of central nervous system|pediatric central nervous system germ cell tumor|central nervous system germ cell tumor|childhood germ cell neoplasm of central nervous system|childhood central nervous system germ cell tumor|pediatric CNS germ cell tumor|pediatric central nervous system germ cell neoplasm|pediatric germ cell neoplasm of the CNS UMLS:C0278754|DOID:6052|NCIT:C6205 owl:Class UBERON:0011289 biolink:NamedThing pharyngobasilar fascia The pharyngeal aponeurosis (or pharyngobasilar fascia, or fibrous coat), is situated between the mucous and muscular layers. It is thick above where the muscular fibers are wanting, and is firmly connected to the basilar portion of the occipital and the petrous portions of the temporal bones. As it descends it diminishes in thickness, and is gradually lost. It is strengthened posteriorly by a strong fibrous band, which is attached above to the pharyngeal spine on the under surface of the basilar portion of the occipital bone, and passes downward, forming a median raphe, which gives attachment to the Constrictores pharyngis. tmpak2llvmy_mondo_relaxed.owl pharyngeal aponeurosis owl:Class UBERON:0001042 biolink:NamedThing chordate pharynx A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. tmpak2llvmy_mondo_relaxed.owl pharynx owl:Class GO:0007268 biolink:NamedThing chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpak2llvmy_mondo_relaxed.owl signal transmission across a synapse|synaptic transmission|neurotransmission owl:Class OBO:CHR_9606-chr12p biolink:NamedThing chr12p (Human) tmpak2llvmy_mondo_relaxed.owl 35500000 0 hg38 owl:Class MONDO:0008866 biolink:NamedThing bifid nose, autosomal recessive Autosomal recessive form of bifid nose. tmpak2llvmy_mondo_relaxed.owl Nose, Median cleft of|autosomal recessive bifid nose|bifid nose, autosomal recessive|median fissure of Nose OMIM:210400 owl:Class UBERON:0007143 biolink:NamedThing right internal carotid artery An internal carotid artery that branching_part_of a right common carotid artery plus branches. tmpak2llvmy_mondo_relaxed.owl arteria carotis interna dextra owl:Class UBERON:0001531 biolink:NamedThing right common carotid artery plus branches The rightmost of the two common carotid arteries, originating from in the neck from the brachiocephalic trunk. tmpak2llvmy_mondo_relaxed.owl trunk of right common carotid tree|right common carotid artery owl:Class NCBITaxon:10376 biolink:NamedThing Human gammaherpesvirus 4 tmpak2llvmy_mondo_relaxed.owl Epstein-Barr virus EBV|Human herpesvirus type 4|HHV-4|Human herpesvirus 4|Epstein Barr virus|EPV|Epstein-Barr virus GC_ID:1 NCBITaxon:47902 ncbi_taxonomy owl:Class MONDO:0016271 biolink:NamedThing adenoid cystic carcinoma of the corpus uteri A adenoid cystic carcinoma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl body of uterus adenoid cystic carcinoma|endometrial adenoid cystic carcinoma ICD10:C54.0|ICD10:C54.2|ICD10:C54.8|ICD10:C54.1|ICD10:C54.3|Orphanet:213741 owl:Class UBERON:0015064 biolink:NamedThing autopod cartilage A autopod endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001996 biolink:NamedThing elastic cartilage tissue Cartilage tissue that is flexible and contains abundant elastic fibers. tmpak2llvmy_mondo_relaxed.owl yellow cartilage|elastic cartilage tissue|yellow elastic cartilage tissue|reticular cartilage|elastic cartilage|yellow elastic cartilage owl:Class MONDO:0009134 biolink:NamedThing congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. tmpak2llvmy_mondo_relaxed.owl Cda 2|dyserythropoietic Anemia, congenital, type 2|SEC23B-CDG|CDA II|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|dyserythropoietic Anemia, hempas type|CDA type II|anemia, dyserythropoietic, congenital type 2|congenital dyserythropoietic anemia type 2|anemia, congenital dyserythropoietic, type II|CDAN2|CDA type 2|anemia, congenital dyserythropoietic, type 2|hempas anemia|hereditary erythroblastic multinuclearity with Positive acidified-serum test Orphanet:98873|ICD9:285.8|OMIM:224100|SCTID:68870007|ICD10:D64.4|DOID:0111401|GARD:0002001 owl:Class HGNC:10702 biolink:NamedThing SEC23B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000179 biolink:NamedThing haemolymphatic fluid Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. tmpak2llvmy_mondo_relaxed.owl circulating fluid|blood or blood analog owl:Class MONDO:0005779 biolink:NamedThing hand, foot and mouth disease A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. tmpak2llvmy_mondo_relaxed.owl vesicular stomatitis and exanthem|hand, foot, and mouth disease|HFMD|hand foot and mouth disease ICD9:074.3|SCTID:266108008|ICD10:B08.4|DOID:10881|MESH:D006232|EFO:0007294|UMLS:C0018572|NCIT:C128439 owl:Class NCBITaxon:39054 biolink:NamedThing Enterovirus A71 tmpak2llvmy_mondo_relaxed.owl Enterovirus EV-A71|EV-71|Human enterovirus A71|Enterovirus 71|Human enterovirus type 71|Human enterovirus 71|EV71|EV-A71|enterovirus type 71 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011299 biolink:NamedThing Huntington disease-like 1 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Huntington-like neurodegenerative disorder|Huntington's disease-like 1|Huntington disease-like 1|Huntington-like neurodegenerative disorder 1|HDL1|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington-like neurodegenerative disorder, autosomal dominant|Huntington disease-like type 1|prion disease, early-onset, with prominent psychiatric features|PRNP neurodegenerative disease with chorea|HLN1|early-onset prion disease with prominent psychiatric features UMLS:C1864112|ICD10:G10|OMIM:603218|DOID:0090103|Orphanet:157941|MESH:C566398 owl:Class HGNC:9449 biolink:NamedThing PRNP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014139 biolink:NamedThing Ehlers-Danlos syndrome, progeroid type, 2 Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, progeroid type, 2|EDSSPD2|B3GALT6 Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|Ehlers-Danlos syndrome, progeroid type, 2, formerly|EDSP2|Ehlers-Danlos syndrome, spondylodysplastic type, 2 OMIM:615349|UMLS:C3809210 owl:Class NCBITaxon:11089 biolink:NamedThing Yellow fever virus tmpak2llvmy_mondo_relaxed.owl Flavivirus febricis|yellow fever virus YFV|YFV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002488 biolink:NamedThing intraductal breast neoplasm A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. tmpak2llvmy_mondo_relaxed.owl intraductal breast neoplasm UMLS:C0948967|DOID:3013|NCIT:C36083 owl:Class UBERON:0001765 biolink:NamedThing mammary duct Epithelial tube that transports milk[GO]. tmpak2llvmy_mondo_relaxed.owl lactiferous duct|galactophorous tubule|mammary gland duct|lactiferous tubule|mammilary duct|lactiferous gland duct|galactophorous duct|ductus lactiferi owl:Class NCBITaxon:10090 biolink:NamedThing Mus musculus tmpak2llvmy_mondo_relaxed.owl mouse|house mouse GC_ID:1 NCBITaxon:85055 ncbi_taxonomy owl:Class MONDO:0014368 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, type 10|melanoma, cutaneous malignant, susceptibility to, 10|susceptibility to cutaneous malignant melanoma 10|CMM10 OMIM:615848 owl:Class MONDO:0005174 biolink:NamedThing acute hypotension Acute form of hypotension (disease). tmpak2llvmy_mondo_relaxed.owl hypotension (disease), acute|acute hypotension (disease) EFO:0002497 owl:Class MONDO:0000254 biolink:NamedThing cutaneous mycosis A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis. tmpak2llvmy_mondo_relaxed.owl SCTID:14560005|DOID:0050134 owl:Class UBERON:0002416 biolink:NamedThing integumental system Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. tmpak2llvmy_mondo_relaxed.owl integumentum commune|integumentary system|dermal system|body surface|external covering of organism|surface|organism surface owl:Class CHEBI:30762 biolink:NamedThing salicylate A monohydroxybenzoate that is the conjugate base of salicylic acid. tmpak2llvmy_mondo_relaxed.owl o-hydroxybenzoate|2-hydroxybenzoate|2-hydroxybenzoic acid ion(1-)|Salicylate|salicylate|sal owl:Class MONDO:0014253 biolink:NamedThing autoimmune lymphoproliferative syndrome type 3 A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl autoimmune lymphoproliferative syndrome, type III|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome-undetermined variant|ALPS3|type 3 ALPS|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|autoimmune lymphoproliferative syndrome type III|common variable immunodeficiency 9|type 3 autoimmune lymphoproliferative syndrome|immunodeficiency, common variable, 9|CVID9|ALPS-U UMLS:C3809928|NCIT:C39577|UMLS:C1519711|ICD10:D47.9|DOID:0110119|OMIM:615559 owl:Class HGNC:9399 biolink:NamedThing PRKCD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014358 biolink:NamedThing AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 25|MRD25|Xia-Gibbs syndrome|mental retardation, autosomal dominant 25|AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|intellectual disability, autosomal dominant 25|autosomal dominant mental retardation 25 EFO:0009015|DOID:0070055|ICD10:Q87.8|Orphanet:412069|OMIM:615829|UMLS:C4014419 owl:Class HGNC:25230 biolink:NamedThing AHDC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013228 biolink:NamedThing spondylo-megaepiphyseal-metaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl spondylo-megaepiphyseal-metaphyseal dysplasia|SMMD Orphanet:228387|ICD10:Q77.7|UMLS:C2750066|OMIM:613330|MESH:C567639 owl:Class HGNC:951 biolink:NamedThing NKX3-2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014399 biolink:NamedThing sinusoidal space A anatomical space that is enclosed by a sinusoid. tmpak2llvmy_mondo_relaxed.owl lumen of sinusoid|sinusoid lumen owl:Class MONDO:0018334 biolink:NamedThing chronic hiccup Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. tmpak2llvmy_mondo_relaxed.owl persistent hiccups|intractable singultus|Hiccups, intractable|intractable hiccups|chronic hiccups Orphanet:396|GARD:0006657|SCTID:716771000|UMLS:CN205022|HP:0100247|UMLS:C0744898 https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups owl:Class HP:0100247 biolink:NamedThing Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. tmpak2llvmy_mondo_relaxed.owl Recurrent hiccough|Hiccup|Hiccups|Recurrent synchronous diaphragmatic flutter|Recurrent hiccup UMLS:C0019521|UMLS:C0744897|MSH:D006606|SNOMEDCT_US:65958008 A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. doelkens 2010-07-08T05:28:00Z human_phenotype owl:Class MONDO:0014928 biolink:NamedThing Joubert syndrome 28 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 28|Joubert syndrome caused by mutation in MKS1|JBTS28|Joubert syndrome 28|MKS1 Joubert syndrome OMIM:617121|UMLS:C4310705|DOID:0110997 owl:Class HGNC:7121 biolink:NamedThing MKS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001254 biolink:NamedThing urothelium of ureter The luminal epithelium of the tube that conducts the urine from the renal pelvis to the bladder[MP] tmpak2llvmy_mondo_relaxed.owl transitional epithelium of ureter|ureter luminal urothelium|ureter urothelium|ureter transitional epithelium owl:Class MONDO:0009290 biolink:NamedThing glycogen storage disease II Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. tmpak2llvmy_mondo_relaxed.owl glycogenosis type 2|GSD type 2|deficiency of glucoamylase|acid maltase deficiency disease|GAA glycogen storage disease|Alpha-1,4-glucosidase acid deficiency|glycogenosis type II|GSD2|GSD due to acid maltase deficiency|glycogen storage disease due to acid maltase deficiency|glycogenosis, generalized, Cardiac form|glycogen storage disease type 2|glycogen storage disease type II|glycogen storage disease, type II|GSD II|glycogenosis due to acid maltase deficiency|Aglucosidase alfa|Cardiomegalia Glycogenica diffusa|glycogen storage disease 2|Alpha-1,4-glucosidase deficiency|Pompe's disease|deficiency of maltase|GSD 2|generalized glycogenosis|lysosomal alpha-1,4-glucosidase deficiency|Pompe disease|glycogenosis, type 2|glucosidase acid-1,4-alpha deficiency|acid maltase deficiency|deficiency of lysosomal alpha-glucosidase|GAA deficiency|deficiency of alpha-glucosidase|glycogen storage disease caused by mutation in GAA|GSD type II|glycogen storage disease II NCIT:C84734|OMIM:232300|MedDRA:10053185|Orphanet:365|UMLS:C0017921|GARD:0005714|UMLS:C1968741|ICD10:E74.0|SCTID:274864009|DOID:2752|ICD10:E74.02|GARD:0002503 owl:Class HGNC:4065 biolink:NamedThing GAA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008803 biolink:NamedThing skin of cheek A zone of skin that is part of a cheek. tmpak2llvmy_mondo_relaxed.owl cheek skin owl:Class UBERON:0001567 biolink:NamedThing cheek A fleshy subdivision of one side of the face bounded by an eye, ear and the nose. tmpak2llvmy_mondo_relaxed.owl jowl|buccae owl:Class GO:0051957 biolink:NamedThing positive regulation of amino acid transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl activation of amino acid transport|positive regulation of amino acid transmembrane transport|stimulation of amino acid transport|upregulation of amino acid transport|up regulation of amino acid transport|up-regulation of amino acid transport owl:Class GO:0035556 biolink:NamedThing intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. tmpak2llvmy_mondo_relaxed.owl intracellular signaling cascade|intracellular protein kinase cascade|protein kinase cascade|signal transmission via intracellular cascade|intracellular signaling pathway|intracellular signaling chain|intracellular signal transduction pathway|signal transduction via intracellular signaling cascade owl:Class MONDO:0014506 biolink:NamedThing hypomyelinating leukodystrophy 9 Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 9|HLD9|RARS-related autosomal recessive hypomyelinating leukodystrophy|hypomyelinating leukodystrophy type 9|leukodystrophy caused by mutation in RARS|leukodystrophy, hypomyelinating, 9|RARS leukodystrophy UMLS:C4015323|DOID:0060791|Orphanet:438114|OMIM:616140|ICD10:E75.2 owl:Class HGNC:9870 biolink:NamedThing RARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009768 biolink:NamedThing distal interphalangeal joint An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. tmpak2llvmy_mondo_relaxed.owl DIP joint|DIJ joint owl:Class UBERON:0004300 biolink:NamedThing distal phalanx Distal-most phalanx within a digit. tmpak2llvmy_mondo_relaxed.owl terminal phalanx|ungual phalanx|phalanx distalis owl:Class ECTO:8000017 biolink:NamedThing exposure to atmospheric process A exposure event involving the interaction of an exposure receptor to atmospheric process. tmpak2llvmy_mondo_relaxed.owl atmospheric process exposure owl:Class MONDO:0007794 biolink:NamedThing hypogonadotropic hypogonadism 7 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. tmpak2llvmy_mondo_relaxed.owl idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 7 with or without anosmia|hypogonadism, isolated hypogonadotropic|HH7 DOID:0090078|SCTID:123953004|ICD10:E23.0|OMIM:146110|ICD9:253.4 owl:Class HGNC:22788 biolink:NamedThing FEZF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004312 biolink:NamedThing suprasellar meningioma A meningioma that affects the suprasellar region. tmpak2llvmy_mondo_relaxed.owl sella turcica meningioma (disease)|meningioma (disease) of sella turcica DOID:7634|NCIT:C6776|UMLS:C1336535 owl:Class UBERON:0003689 biolink:NamedThing sella turcica The sella turcica is a saddle-shaped depression in the sphenoid bone at the base of the human skull. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl Turkey Chair|suprasellar|turkish saddle owl:Class UBERON:0001790 biolink:NamedThing outer plexiform layer of retina The layer within the retina where the bipolar cells synapse with the photoreceptor cells[ZFA]. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells[GO]. tmpak2llvmy_mondo_relaxed.owl retina outer plexiform layer|stratum plexiforme externum retinae|OPL|outer plexiform layer|external plexiform layer|retinal outer plexiform layer|stratum plexiforme externum|retina, outer plexiform layer|retinal outer plexiform layers owl:Class GO:0061337 biolink:NamedThing cardiac conduction Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000388 biolink:NamedThing epiglottis A part of the pharynx that consists of a flap of elastic cartilage tissue plus a mucous membrane covering, attached to the entrance of the larynx. The epiglottis is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink[MP,modified] tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003115 biolink:NamedThing pharyngeal arch 4 contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus tmpak2llvmy_mondo_relaxed.owl 4th pharyngeal arch|fourth pharyngeal arch|4th arch|4th visceral arch|second gill arch|second branchial arch|fourth visceral arch|4th branchial arch|visceral arch 4|gill arch 2|branchial arch 2 owl:Class MONDO:0011897 biolink:NamedThing leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. tmpak2llvmy_mondo_relaxed.owl tach syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|dentoleukoencephalopathy|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|HLD7|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|ataxia, delayed dentition, and hypomyelination|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|4H syndrome|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|ataxia-delayed dentition-hypomyelination syndrome|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition SCTID:721846006|ICD10:E75.2|ICD10:G11.1|DOID:0060794|OMIM:607694|Orphanet:137639 owl:Class MONDO:0037743 biolink:NamedThing mediastinal soft tissue cancer A malignant neoplasm that arises from the soft tissues of the mediastinum. tmpak2llvmy_mondo_relaxed.owl malignant soft tissue tumor of the mediastinum|malignant soft tissue neoplasm of mediastinum|malignant mediastinal soft tissue tumor|malignant mediastinal soft tissue neoplasm|malignant mediastinal mesenchymal tumor|malignant soft tissue neoplasm of the mediastinum|malignant soft tissue tumor of mediastinum|mediastinal mesenchymal tumor, malignant NCIT:C6642|UMLS:C1334599 owl:Class MONDO:0020427 biolink:NamedThing Laubry-Pezzi syndrome Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. tmpak2llvmy_mondo_relaxed.owl ventricular septal defect with aortic insufficiency|VSD with aortic insufficiency ICD10:Q21.0|UMLS:CN207292|SCTID:764955006|Orphanet:99094 owl:Class MONDO:0020499 biolink:NamedThing Nipah virus disease Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. tmpak2llvmy_mondo_relaxed.owl Nipah encephalitis|Nipah fever|Nipah virus infectious disease Orphanet:99825|ICD10:A98.8|DOID:0050192|UMLS:CN207389 owl:Class NCBITaxon:121791 biolink:NamedThing Nipah henipavirus tmpak2llvmy_mondo_relaxed.owl Nipah-virus|Nipah virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003299 biolink:NamedThing roof plate of midbrain the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof tmpak2llvmy_mondo_relaxed.owl midbrain roof|midbrain roofplate|midbrain roof plate|roofplate of midbrain|roof plate midbrain region|roof plate mesencephalon|roofplate midbrain|roof plate midbrain owl:Class UBERON:0001891 biolink:NamedThing midbrain The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. tmpak2llvmy_mondo_relaxed.owl mesencephalon|MB owl:Class OBO:CHR_9606-chrXq25 biolink:NamedThing chrXq25 (Human) tmpak2llvmy_mondo_relaxed.owl 129500000 121800000 hg38 owl:Class UBERON:0001849 biolink:NamedThing membranous labyrinth Organ with organ cavity which consists of the vestibular labyrinth and the cochlear labyrinth. The membranous labyrinth is lodged within the bony labyrinth and has the same general form; it is, however, considerably smaller and is partly separated from the bony walls by a quantity of fluid, the perilymph.[FMA, WP] tmpak2llvmy_mondo_relaxed.owl labyrinthus membranaceus owl:Class CL:0002609 biolink:NamedThing neuron of cerebral cortex A CNS neuron of the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl cortical neuron FMA:84104|BTO:0004102 tmeehan 2011-03-06T07:37:08Z cell owl:Class NCBITaxon:1 biolink:NamedThing root tmpak2llvmy_mondo_relaxed.owl all GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006883 biolink:NamedThing malignant superior sulcus neoplasm A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpak2llvmy_mondo_relaxed.owl malignant Superior sulcus neoplasm of the lung|superior pulmonary sulcus syndrome (disorder) [ambiguous]|malignant Superior sulcus neoplasm|Pancoast's tumor|pulmonary sulcus neoplasm, malignant|Pancoast tumor|malignant Superior sulcus lung tumor|malignant Superior sulcus neoplasm of lung|superior sulcus tumor|malignant Superior sulcus tumor of the lung|Pancoast's tumour|malignant Superior sulcus tumor|malignant Superior sulcus lung neoplasm|malignant pulmonary sulcus neoplasm|malignant Superior sulcus tumor of lung|superior pulmonary sulcus syndrome|Pancoast's syndrome UMLS:C0549471|DOID:8007|NCIT:C7527|SCTID:254638002|EFO:1001080 owl:Class UBERON:0004709 biolink:NamedThing pelvic appendage Paired appendage that consists of the posterior appendicular skeleton and associated soft and hard tissues, but excludes the pelvic girdle and its associated soft and hard tissues. tmpak2llvmy_mondo_relaxed.owl posterior limb/fin|posterior paired appendage|posterior appendage|pelvic limb/fin|pelvic appendage|hindlimb/pelvic fin owl:Class UBERON:0005420 biolink:NamedThing pelvic appendage bud A limb bud that develops into a hindlimb or pelvic fin. tmpak2llvmy_mondo_relaxed.owl pelvic fin bud|pelvic fin buds|hindlimb/pelvic fin bud owl:Class HGNC:13503 biolink:NamedThing ZBTB20 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004550 biolink:NamedThing malignant cornea melanoma A melanoma within the cornea of the eye. tmpak2llvmy_mondo_relaxed.owl melanoma of the cornea|malignant melanoma of the cornea|malignant melanoma of cornea|cornea melanoma|cornea melanoma (disease)|melanoma of cornea|melanoma (disease) of cornea|malignant cornea melanoma|corneal melanoma|malignant corneal melanoma UMLS:C0346367|DOID:8400|NCIT:C4553 owl:Class MONDO:0014027 biolink:NamedThing hypotrichosis 11 Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene. tmpak2llvmy_mondo_relaxed.owl SNRPE hypotrichosis|hypotrichosis caused by mutation in SNRPE|hypotrichosis type 11|hypotrichosis 11|HYPT11|hypt11 OMIM:615059|UMLS:C3554409|DOID:0110708 owl:Class MONDO:0012097 biolink:NamedThing spondylocostal dysostosis 2, autosomal recessive tmpak2llvmy_mondo_relaxed.owl SCDO2|spondylocostal dysostosis 2|spondylocostal dysostosis 2, autosomal recessive GARD:0009703|UMLS:C1837549|OMIM:608681 owl:Class HGNC:29659 biolink:NamedThing MESP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002676 biolink:NamedThing adult fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma|adult fibrosarcoma|adult fibrosarcoma (disease)|fibrosarcoma (disease) of adults NCIT:C7809|DOID:3516|UMLS:C0278595 owl:Class UBERON:0012486 biolink:NamedThing muscle layer of cloaca A muscular coat that is part of a cloaca. tmpak2llvmy_mondo_relaxed.owl smooth muscle of cloaca|muscularis externa of cloaca owl:Class UBERON:0000162 biolink:NamedThing cloaca Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures tmpak2llvmy_mondo_relaxed.owl cloacal chamber|vent owl:Class MONDO:0001227 biolink:NamedThing chronic tympanitis Chronic form of tympanitis. tmpak2llvmy_mondo_relaxed.owl tympanitis, chronic DOID:11217|SCTID:89723004|ICD9:384.1|ICD10:H73.10|ICD10:H73.1|UMLS:C0395849 owl:Class CHEBI:16526 biolink:NamedThing carbon dioxide A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. tmpak2llvmy_mondo_relaxed.owl carbonic anhydride|E290|Carbon dioxide|methanedione|CO2|R-744|E-290|carbon dioxide|E 290|[CO2]|CARBON DIOXIDE|dioxidocarbon owl:Class MONDO:0014109 biolink:NamedThing NGLY1-deficiency A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. tmpak2llvmy_mondo_relaxed.owl congenital disorder of deglycosylation|CDDG|congenital disorder of glycosylation type IV|congenital disorder of glycosylation, type IV|CDG IV|CDG IV, formerly|alacrimia - choreoathetosis - liver dysfunction syndrome|NGLY1 deficiency|NGLY1-deficiency|deficiency of N-glycanase 1|congenital disorder of glycosylation type IV; CDG1V|congenital disorder of deglycosylation;CDDG|congenital disorder of glycosylation, type IV, formerly|NGLY1-CDDG UMLS:C3808991|Orphanet:404454|NCIT:C126746|SCTID:768846004|OMIM:615273|DOID:0060728|ICD10:E77.8|GARD:0012315 owl:Class HGNC:17646 biolink:NamedThing NGLY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004042 biolink:NamedThing urethra inverted papilloma A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue. tmpak2llvmy_mondo_relaxed.owl urethra inverted papilloma|inverted papilloma of the urethra|urethral inverted papilloma|inverted papilloma of urethra NCIT:C6173|DOID:6934|UMLS:C1336887 owl:Class UBERON:0000057 biolink:NamedThing urethra the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003940 biolink:NamedThing Kummell disease Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. tmpak2llvmy_mondo_relaxed.owl bony vertebral centrum osteonecrosis|Kummell's disease|traumatic spondylopathy|Kummell disease|Kummell's spondylitis|avascular necrosis of a vertebral body|osteonecrosis of bony vertebral centrum ICD9:721.7|UMLS:C0152088|ICD10:M48.3|SCTID:111232005|DOID:6603 owl:Class UBERON:0001075 biolink:NamedThing bony vertebral centrum Ossified form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified]. tmpak2llvmy_mondo_relaxed.owl holocentrum|body of vertebra|arcocentrum|corpus vertebra|vertebral centra|vertebral body|corpus vertebrae (vertebrale)|autocentrum|corpus vertebrae|centra|vertebral centrum owl:Class MONDO:0004337 biolink:NamedThing perianal skin Paget disease Paget disease involving the perianal skin. tmpak2llvmy_mondo_relaxed.owl Paget disease of the anal margin|perianal skin Paget's disease|perianal skin mammary Paget's disease|anal margin Paget's disease|Paget's disease of the anal margin|perianal skin Paget disease DOID:7708|NCIT:C7476|UMLS:C1332270 owl:Class NCBITaxon:766 biolink:NamedThing Rickettsiales tmpak2llvmy_mondo_relaxed.owl rickettsias|alpha-1 proteobacteria PMID:8240958|PMID:11760958|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013446 biolink:NamedThing Leber congenital amaurosis 6 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpak2llvmy_mondo_relaxed.owl LCA6|Leber congenital amaurosis 6|Leber congenital amaurosis type 6|RPGRIP1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RPGRIP1 GARD:0010490|MESH:C565327|OMIM:613826|ICD10:H35.5|HGNC:13436|DOID:0110329 https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6 owl:Class HGNC:13436 biolink:NamedThing RPGRIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010141 biolink:NamedThing primitive sex cord of indifferent gonad A sex cord that is part of a indifferent gonad. tmpak2llvmy_mondo_relaxed.owl indifferent sex cord|primitive sex cords owl:Class MONDO:0023013 biolink:NamedThing Duker-Weiss-Siber syndrome tmpak2llvmy_mondo_relaxed.owl Duker Weiss Siber syndrome|microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism MESH:C535719|GARD:0001918|UMLS:C2930993 https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome owl:Class MONDO:0001071 biolink:NamedThing intellectual disability A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. tmpak2llvmy_mondo_relaxed.owl intellectual disability|intellectual disabilities|mental retardation ICD10:F70.F79|EFO:0003847|DOID:1059|GARD:0011963|ICD9:319|SCTID:91138005|MESH:D008607|NCIT:C97250 owl:Class MONDO:0014202 biolink:NamedThing primary ciliary dyskinesia 24 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 24|primary ciliary dyskinesia 24|CILD24|ciliary dyskinesia, primary, 24|primary ciliary dyskinesia type 24|primary ciliary dyskinesia 24 without situs inversus|ciliary dyskinesia, primary, 24, without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH1|RSPH1 primary ciliary dyskinesia OMIM:615481|DOID:0110628|ICD10:Q34.8|UMLS:C3809634 owl:Class HGNC:12371 biolink:NamedThing RSPH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013977 biolink:NamedThing combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 13|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|combined oxidative phosphorylation deficiency 13|COXPD13|PNPT1 combined oxidative phosphorylation deficiency DOID:0111467|Orphanet:319514|ICD10:G71.3|OMIM:614932|SCTID:763110007|UMLS:C3554129 owl:Class HGNC:23166 biolink:NamedThing PNPT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005422 biolink:NamedThing pelvic appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pelvic appendage bud. tmpak2llvmy_mondo_relaxed.owl apical ectodermal ridge hind limb|leg AER|apical ectodermal ridge pelvic fin bud|apical ectodermal ridge hindlimb|AER hindlimb|lower lmb bud apical ectodermal ridge owl:Class UBERON:0003371 biolink:NamedThing pelvic appendage bud ectoderm An unilaminar epithelium that surrounds a pelvic appendage bud. tmpak2llvmy_mondo_relaxed.owl pelvic fin bud ectoderm|lower limb bud ectoderm|hindlimb bud ectoderm|leg ectoderm|hindlimb ectoderm owl:Class MONDO:0000307 biolink:NamedThing parasitic Ichthyosporea infectious disease A disease caused by infection with Ichthyosporea. tmpak2llvmy_mondo_relaxed.owl Ichthyosporea infectious disease|Ichthyosporea caused disease or disorder|Ichthyosporea disease or disorder DOID:0050291 owl:Class NCBITaxon:127916 biolink:NamedThing Ichthyosporea tmpak2llvmy_mondo_relaxed.owl DRIP clade|Mesomycetozoea|Mesomycetozoa PMID:10449446|GC_ID:1|PMID:12142489|PMID:8876236 ncbi_taxonomy owl:Class UBERON:4000170 biolink:NamedThing median fin skeleton Postcranial axial skeleton that is unpaired and located on the sagittal plane of the organism. tmpak2llvmy_mondo_relaxed.owl unpaired fin skeleton|axial fin skeleton owl:Class UBERON:4000162 biolink:NamedThing median fin Fin that is an unpaired fin located in the sagittal plane of the organism. tmpak2llvmy_mondo_relaxed.owl nageoire impaire|périssoptérygie owl:Class MONDO:0042966 biolink:NamedThing inherited mitral valve disease An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl congenital mitral valve abnormality|congenital anomaly of mitral valve|congenital malformation of mitral valve|hereditary mitral valve disease SCTID:75372006 owl:Class UBERON:0034770 biolink:NamedThing bulbourethral gland epithelium tmpak2llvmy_mondo_relaxed.owl epithelium of bulbourethral gland|epithelium of bulbourethral gland of male owl:Class UBERON:0002366 biolink:NamedThing bulbo-urethral gland Any of the small paired racemose glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; homologous to the greater vestibular (Bartholin's) glands in the female[MP] tmpak2llvmy_mondo_relaxed.owl Mery's gland|Cowper's gland of male|bulbourethral gland|Cowper's gland|Cowper's glands|glandula bulbourethralis|Méry gland owl:Class CHEBI:42485 biolink:NamedThing formyl group tmpak2llvmy_mondo_relaxed.owl -CH(O)|-CHO|carbaldehyde|methanoyl|formyl|H-CO-|aldehyde group|FORMYL GROUP|Fo owl:Class CHEBI:30751 biolink:NamedThing formic acid The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. tmpak2llvmy_mondo_relaxed.owl formic acid|methoic acid|H-COOH|Acide formique|HCOOH|Methanoic acid|Formic acid|aminic acid|HCO2H|Ameisensaeure|FORMIC ACID|bilorin|formylic acid|hydrogen carboxylic acid owl:Class HP:0001417 biolink:NamedThing X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. tmpak2llvmy_mondo_relaxed.owl X-linked form|X-linked SNOMEDCT_US:263934009|UMLS:C0241764|MSH:D050172 HP:0001418 human_phenotype owl:Class MONDO:0009266 biolink:NamedThing Gaucher disease type II Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. tmpak2llvmy_mondo_relaxed.owl Gd 2|Gaucher disease, infantile cerebral|acute neuronopathic Gaucher disease|Gaucher disease type 2|Gaucher's disease type II|Gaucher disease, acute neuronopathic type|GD II|Gaucher disease type II|Gaucher disease, type 2|infantile cerebral Gaucher disease|Gaucher disease, type II SCTID:12246008|DOID:0110958|Orphanet:77260|GARD:0002442|OMIM:230900|ICD10:E75.2 owl:Class HGNC:4177 biolink:NamedThing GBA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010024 biolink:NamedThing Beemer-Langer syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. tmpak2llvmy_mondo_relaxed.owl short rib syndrome, Beemer type|short rib polydactyly syndrome Beemer-Langer type|short rib-polydactyly syndrome, type 4|short rib-polydactyly syndrome type IV|type IV short rib polydactyly syndrome|Beemer Langer syndrome|Srps 4|SRPS type 4|Beemer-Langer syndrome|short rib-polydactyly syndrome, Beemer-Langer type|short-rib thoracic dysplasia 12|short rib-polydactyly syndrome type 4|SRTD12|short rib-polydactyly syndrome Beemer type OMIM:269860|ICD9:756.9|SCTID:254052001|GARD:0004832|UMLS:C0432198|ICD10:Q77.2|MESH:C537599|DOID:9249|Orphanet:93268 owl:Class UBERON:0001095 biolink:NamedThing caudal vertebra Any vertebral bone that is part of the caudal region of the vertebral column (tail or coccyx). tmpak2llvmy_mondo_relaxed.owl caudal vertebral bone|tail vertebra|fused tail vertebra|coccygeal segment|caudal vertebra|caudal vertebral bone element|coccygeal vertebra|coccygea|caudal vertebrae owl:Class UBERON:0000931 biolink:NamedThing proctodeum Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. tmpak2llvmy_mondo_relaxed.owl embryonic proctodaeum|amnioproctodeal invagination|proctodaeum|anal pit|anus porus owl:Class UBERON:0001353 biolink:NamedThing anal region The anus and surrounding regions. Encompasses both internal and external regions, where present tmpak2llvmy_mondo_relaxed.owl posterior end of organism|posterior owl:Class MONDO:0019190 biolink:NamedThing juvenile polyposis of infancy Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. tmpak2llvmy_mondo_relaxed.owl juvenile polyposis syndrome of infancy|infantile juvenile polyposis syndrome|infantile onset juvenile polyposis syndrome ICD10:D12.6|UMLS:CN205768|Orphanet:79076 owl:Class MONDO:0013725 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 7 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. tmpak2llvmy_mondo_relaxed.owl MLH3 hereditary nonpolyposis colon cancer|colorectal cancer, hereditary nonpolyposis, type 7|HNPCC7|hereditary nonpolyposis colon cancer caused by mutation in MLH3 MESH:C565777|DOID:0070276|UMLS:C1858380|OMIM:614385 owl:Class HGNC:7128 biolink:NamedThing MLH3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000109 biolink:NamedThing gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpak2llvmy_mondo_relaxed.owl blastocystis trilaminaris stage|trilaminar disk stage|trilaminar blastoderm stage|trilaminar stage|trilaminar blastocyst stage|trilaminar germ stage owl:Class GO:0007369 biolink:NamedThing gastrulation A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11943 biolink:NamedThing TNNC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012960 biolink:NamedThing intellectual disability, autosomal dominant 5 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene. tmpak2llvmy_mondo_relaxed.owl MRD5|intellectual disability, autosomal dominant type 5|intellectual disability, autosomal dominant 5|SYNGAP1-related NSID|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism|mental retardation, autosomal dominant type 5|autosomal dominant non-syndromic intellectual disability 5|autosomal dominant intellectual disability 5|mental retardation, autosomal dominant 5|autosomal dominant mental retardation 5|SYNGAP1-related non-syndromic intellectual disability|SYNGAP1 autosomal dominant non-syndromic intellectual disability|SYNGAP1 syndrome GARD:0012558|DOID:0070035|MESH:C567234|UMLS:C2675473|OMIM:612621 owl:Class UBERON:0003463 biolink:NamedThing trunk bone A bone that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone organ of torso|bone of trunk|torso bone organ|torso bone|trunk bone organ|bone of torso|bone organ of trunk owl:Class GO:0006521 biolink:NamedThing regulation of cellular amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. tmpak2llvmy_mondo_relaxed.owl regulation of amino acid metabolism owl:Class GO:0006520 biolink:NamedThing cellular amino acid metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular amino acid metabolism|amino acid and derivative metabolism|amino acid metabolic process|cellular amino acid and derivative metabolic process owl:Class UBERON:0001607 biolink:NamedThing sphincter pupillae A sphincter muscle that is part of the iris. tmpak2llvmy_mondo_relaxed.owl sphincter muscle of pupil|spincter pupillae|circular fibers|pupillary sphincter muscle|musculus sphincter pupillae|m. sphincter pupillae|constrictor pupillae|iris constrictor|sphincter pupillae muscle|M. sphincter pupillae|pupillary sphincter|sphincter pupillae|iris sphincter|iris constrictor muscle|iris sphincter muscle|pupillary constrictor muscle owl:Class UBERON:0001769 biolink:NamedThing iris the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye tmpak2llvmy_mondo_relaxed.owl irides|irises|anterior uvea owl:Class UBERON:0018144 biolink:NamedThing cervical rib A rib that is attached to a cervical vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005434 biolink:NamedThing cervical region tmpak2llvmy_mondo_relaxed.owl region of neck|subdivision of neck|neck subdivision|cervical region owl:Class GO:1903489 biolink:NamedThing positive regulation of lactation Any process that activates or increases the frequency, rate or extent of lactation. tmpak2llvmy_mondo_relaxed.owl upregulation of lactation|up regulation of lactation|up-regulation of lactation|activation of lactation owl:Class GO:0007595 biolink:NamedThing lactation The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. tmpak2llvmy_mondo_relaxed.owl milk secretion owl:Class UBERON:0001361 biolink:NamedThing femoral vein In the human body, the femoral vein is a blood vessel that accompanies the femoral artery in the femoral sheath. It begins at the adductor canal (also known as Hunter's canal) and is a continuation of the popliteal vein. It ends at the inferior margin of the inguinal ligament, where it becomes the external iliac vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena femoralis owl:Class UBERON:0006232 biolink:NamedThing facio-acoustic VII-VIII preganglion complex tmpak2llvmy_mondo_relaxed.owl facio-acoustic preganglion complex owl:Class MONDO:0012699 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2M A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. tmpak2llvmy_mondo_relaxed.owl limb-girdle muscular dystrophy type 2M|FKTN autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|LGMD-FKTN related|MDDGC4|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|LGMD2M|muscular dystrophy, limb-girdle, type 2M DOID:0110296|ICD10:G71.0|MESH:C566912|Orphanet:206554|OMIM:611588|UMLS:C1969040|GARD:0012538 owl:Class HGNC:3622 biolink:NamedThing FKTN tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:773 biolink:NamedThing Bartonella tmpak2llvmy_mondo_relaxed.owl Rocha-Limae|"Bartonia" Strong et al. 1913|Grahmia|Rochalimaea|Grahamella PMID:8863415|PMID:12508871|PMID:11837299|PMID:7857789|GC_ID:11|PMID:8240958|PMID:10425758 NCBITaxon:802 ncbi_taxonomy owl:Class HGNC:17341 biolink:NamedThing TRNT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009226 biolink:NamedThing fibrochondrogenesis 1 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene. tmpak2llvmy_mondo_relaxed.owl fibrochondrogenesis type 1|fibrochondrogenesis caused by mutation in COL11A1|COL11A1 fibrochondrogenesis|FBCG1|fibrochondrogenesis 1 UMLS:C3278138|OMIM:228520 owl:Class HGNC:2186 biolink:NamedThing COL11A1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905155 biolink:NamedThing positive regulation of membrane invagination Any process that activates or increases the frequency, rate or extent of membrane invagination. tmpak2llvmy_mondo_relaxed.owl activation of membrane invagination|up-regulation of membrane invagination|upregulation of membrane invagination|up regulation of membrane invagination owl:Class MONDO:0014199 biolink:NamedThing developmental and epileptic encephalopathy, 17 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy caused by mutation in GNAO1|early infantile epileptic encephalopathy-17|EIEE17|epileptic encephalopathy, early infantile, 17|GNAO1 encephalopathy|DEE17|GNAO1 early infantile epileptic encephalopathy OMIM:615473|GARD:0013378|UMLS:C3809606|DOID:0080450 owl:Class HGNC:4389 biolink:NamedThing GNAO1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030141 biolink:NamedThing secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. tmpak2llvmy_mondo_relaxed.owl secretory vesicle owl:Class GO:0012505 biolink:NamedThing endomembrane system A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021300 biolink:NamedThing adenoid cystic carcinoma of oropharynx A adenoid cystic carcinoma that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharyngeal throat adenoid cystic cancer|oropharynx adenoid cystic carcinoma|oropharyngeal adenoid cystic carcinoma|adenoid cystic carcinoma of the oropharynx NCIT:C6241|SCTID:423318000|UMLS:C1335139 owl:Class UBERON:0001729 biolink:NamedThing oropharynx the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis tmpak2llvmy_mondo_relaxed.owl pars oralis pharyngis|oral part of pharynx|mesopharynx owl:Class UBERON:0005891 biolink:NamedThing coelomic epithelium The epithelial lining of the surface of the coelom. tmpak2llvmy_mondo_relaxed.owl germinal epithelium of Waldeyer|celomic epithelium owl:Class UBERON:0002323 biolink:NamedThing coelemic cavity lumen The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. tmpak2llvmy_mondo_relaxed.owl ventral body cavity|coelome|main body cavity|hemocoel|coelom|celom|body cavity|space of body compartment|coelomic cavity lumen|coelomic cavity owl:Class MONDO:0012472 biolink:NamedThing Aicardi-Goutieres syndrome 4 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. tmpak2llvmy_mondo_relaxed.owl AGS4|RNASEH2A Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 4|Aicardi-Goutieres syndrome type 4|RNASEH2A-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A UMLS:C1835912|GARD:0010896|MESH:C563681|OMIM:610333 owl:Class HGNC:18518 biolink:NamedThing RNASEH2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000612 biolink:NamedThing lymphatic system cancer A malignant neoplasm involving the lymphatic part of lymphoid system tmpak2llvmy_mondo_relaxed.owl lymphatic part of lymphoid system cancer|malignant lymphatic part of lymphoid system neoplasm|malignant neoplasm of lymphatic part of lymphoid system|cancer of lymphatic part of lymphoid system DOID:0060073 owl:Class UBERON:0006558 biolink:NamedThing lymphatic part of lymphoid system An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. tmpak2llvmy_mondo_relaxed.owl lymphatic tree system|lymporeticular system|lymphatic system owl:Class MONDO:0014827 biolink:NamedThing autosomal recessive spastic paraplegia type 76 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. tmpak2llvmy_mondo_relaxed.owl autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|spastic paraplegia 76, autosomal recessive|autosomal recessive spastic paraplegia 76|hereditary spastic paraplegia 76|hereditary spastic paraplegia type 76|SPG76|CAPN1 autosomal recessive complex spastic paraplegia DOID:0110821|EFO:0009019|OMIM:616907|UMLS:C4310800|Orphanet:488594 owl:Class HGNC:1476 biolink:NamedThing CAPN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018616 biolink:NamedThing central serous chorioretinopathy Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. tmpak2llvmy_mondo_relaxed.owl CSC|central serous retinopathy|central serous chorioretinopathy after bone marrow transplantation|CSCR|central serous choroidopathy ICD10:H35.7|GARD:0000200|MESH:D056833|SCTID:312956001|UMLS:C0730328|ICD9:362.41|NCIT:C115124|Orphanet:443079 https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy owl:Class UBERON:0007616 biolink:NamedThing layer of synovial tissue A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. tmpak2llvmy_mondo_relaxed.owl synovial membrane|stratum synoviale|synovial tissue|synovial layer|synovium owl:Class MONDO:0011444 biolink:NamedThing Duane retraction syndrome 2 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. tmpak2llvmy_mondo_relaxed.owl Duane retraction syndrome caused by mutation in CHN1|CHN1 Duane retraction syndrome|Duane retraction syndrome type 2|Duane retraction syndrome 2|Duane syndrome type 2|DURS2 SCTID:128083007|GARD:0009966|OMIM:604356 https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2 owl:Class HGNC:1943 biolink:NamedThing CHN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001493 biolink:NamedThing axillary nerve The axillary nerve is a nerve of the human body, that comes off the posterior cord of the brachial plexus at the level of the axilla (armpit) and carries nerve fibers from C5 and C6. The axillary nerve travels through the quadrangular space with the posterior circumflex humeral artery and vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl nervus axillaris|auxillery nerve|circumflex nerve|circumflex humeral nerve owl:Class GO:1904746 biolink:NamedThing negative regulation of apoptotic process involved in development Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. tmpak2llvmy_mondo_relaxed.owl down-regulation of apoptosis activator activity involved in development of an anatomical structure|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|down-regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of type I programmed cell death involved in development of an anatomical structure|downregulation of apoptotic process involved in anatomical structure development|downregulation of apoptotic process involved in development|down regulation of apoptosis activator activity involved in development of an anatomical structure|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|inhibition of type I programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of type I programmed cell death involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in anatomical structure development|down regulation of apoptotic cell death involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis involved in anatomical structure development|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|negative regulation of apoptotic cell death involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|negative regulation of apoptosis signaling involved in development of an anatomical structure|down regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of apoptosis signaling involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptotic cell death involved in development of an anatomical structure|inhibition of programmed cell death by apoptosis involved in anatomical structure development|down regulation of activation of apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of type I programmed cell death involved in anatomical structure development|downregulation of induction of apoptosis involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic process involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|downregulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|negative regulation of commitment to apoptosis involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down-regulation of type I programmed cell death involved in development of an anatomical structure|down regulation of apoptotic process involved in development|down-regulation of apoptotic process involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|inhibition of apoptotic cell death involved in anatomical structure development|downregulation of activation of apoptosis involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|inhibition of activation of apoptosis involved in development of an anatomical structure|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic program involved in anatomical structure development|negative regulation of commitment to apoptosis involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|downregulation of apoptotic cell death involved in anatomical structure development|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|negative regulation of apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic process involved in anatomical structure development|down-regulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptotic programmed cell death involved in anatomical structure development|down regulation of apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|down regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in anatomical structure development|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|negative regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|down-regulation of apoptosis activator activity involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in development|inhibition of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of commitment to apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptosis signaling involved in anatomical structure development|down regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in anatomical structure development|down regulation of apoptosis signaling involved in anatomical structure development|downregulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|inhibition of apoptosis involved in development of an anatomical structure|downregulation of activation of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development owl:Class OBO:CHR_9606-chr1q21 biolink:NamedThing chr1q21 (Human) tmpak2llvmy_mondo_relaxed.owl 155100000 143200000 hg38 owl:Class OBO:CHR_9606-chr1q2 biolink:NamedThing chr1q2 (Human) tmpak2llvmy_mondo_relaxed.owl 185800000 143200000 hg38 owl:Class UBERON:0001264 biolink:NamedThing pancreas An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000076 biolink:NamedThing external ectoderm The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. tmpak2llvmy_mondo_relaxed.owl surface ectoderm|surface (external) ectoderm owl:Class MONDO:0012976 biolink:NamedThing autosomal dominant nonsyndromic deafness 2B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 2B|deafness, autosomal dominant 2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|GJB3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 2B|DFNA2B|autosomal dominant nonsyndromic deafness type 2B MESH:C567214|ICD10:H90.3|DOID:0110559|OMIM:612644|UMLS:C2675236 owl:Class HGNC:4285 biolink:NamedThing GJB3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8804 biolink:NamedThing PDGFRB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019855 biolink:NamedThing calcium channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a calcium channel. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002078 biolink:NamedThing right cardiac atrium A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. tmpak2llvmy_mondo_relaxed.owl cardiac right atrium|right cardiac atrium|atrium dextrum|right atrium of heart|heart right atrium|right atrium owl:Class GO:0032229 biolink:NamedThing negative regulation of synaptic transmission, GABAergic Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpak2llvmy_mondo_relaxed.owl down-regulation of synaptic transmission, GABAergic|downregulation of synaptic transmission, GABAergic|down regulation of synaptic transmission, GABAergic|inhibition of synaptic transmission, GABAergic owl:Class GO:0051932 biolink:NamedThing synaptic transmission, GABAergic The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpak2llvmy_mondo_relaxed.owl synaptic transmission, gamma-aminobutyric acid-ergic|synaptic transmission, gamma-aminobutyric acid mediated|GABAergic synaptic transmission|synaptic transmission, GABA mediated owl:Class ENVO:01000819 biolink:NamedThing hydrosphere An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002740 biolink:NamedThing uterine ligament mucinous adenocarcinoma A rare mucinous adenocarcinoma that arises from the uterine ligament. tmpak2llvmy_mondo_relaxed.owl uterine ligament mucinous adenocarcinoma UMLS:C1519869|DOID:3699|NCIT:C40137 owl:Class UBERON:0036262 biolink:NamedThing uterine ligament Any of the eight ligaments pertaining to the uterus including the anterior, posterior, lateral, sacro-uterine and round ligaments. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012248 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2K|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|LGMD-POMT1 related|MDDGC1|LGMD2K|limb-girdle muscular dystrophy-intellectual disability syndrome|limb-girdle muscular dystrophy type 2K|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|muscular dystrophy limb-girdle type 2K|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|limb-girdle muscular dystrophy - intellectual disability|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|POMT1 autosomal recessive limb-girdle muscular dystrophy NCIT:C133730|GARD:0012535|OMIM:609308|SCTID:720523006|DOID:0110297|ICD10:G71.0|Orphanet:86812|EFO:0009145 owl:Class HGNC:9202 biolink:NamedThing POMT1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:33208 biolink:NamedThing Metazoa tmpak2llvmy_mondo_relaxed.owl multicellular animals|Animalia|animals|metazoans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008593 biolink:NamedThing trichomegaly tmpak2llvmy_mondo_relaxed.owl eyelashes, long|TCMGLY|trichomegaly OMIM:190330 owl:Class HGNC:3683 biolink:NamedThing FGF5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001470 biolink:NamedThing glenohumeral joint The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl humeroscapular joint|humeral joint|shoulder joint|articulatio humeri|joint of shoulder owl:Class UBERON:0004478 biolink:NamedThing musculature of larynx The collection of muscles that are part of the larynx. tmpak2llvmy_mondo_relaxed.owl laryngeal muscles|muscle group of larynx|set of muscles of larynx|laryngeal muscles set|set of laryngeal muscles owl:Class MONDO:0013561 biolink:NamedThing chondrodysplasia with joint dislocations, gPAPP type tmpak2llvmy_mondo_relaxed.owl chondrodysplasia with joint dislocations, gPAPP type|gPAPP deficiency GARD:0011009|OMIM:614078|UMLS:C3279757|Orphanet:280586 owl:Class HGNC:26019 biolink:NamedThing BPNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6072 biolink:NamedThing Eumetazoa tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:23734 biolink:NamedThing PTF1A tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000011 biolink:NamedThing dermis lymphatic vessel endothelial cell Any endothelial cell of lymphatic vessel that is part of a dermis. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:15:08Z cell owl:Class HGNC:11027 biolink:NamedThing SLC4A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6174 biolink:NamedThing ITM2B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005872 biolink:NamedThing 1st arch pharyngeal cleft A groove that is situated between the 1st and 2nd pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl 1st arch groove ectoderm|1st pharyngeal groove|1st arch branchial groove|1st branchial cleft|branchial groove of 1st arch|1st pharyngeal cleft|1st pharyngeal groove ectoderm owl:Class UBERON:0004160 biolink:NamedThing proepicardium An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium tmpak2llvmy_mondo_relaxed.owl proepicardial cluster|proepicardial organ owl:Class MONDO:0021207 biolink:NamedThing Crohn jejunitis An Crohn disease involving a pathogenic inflammatory response in the jejunum. tmpak2llvmy_mondo_relaxed.owl UMLS:C0267379|SCTID:91390005 owl:Class MONDO:0042487 biolink:NamedThing uterine cervix carcinoma in situ Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 tmpak2llvmy_mondo_relaxed.owl uterine cervix intraepithelial neoplasia grade 3 aJCC v6|FIGO stage 0 carcinoma of cervix uteri|CIN grade 3 aJCC v6|severe cervical dysplasia aJCC v6|FIGO stage 0 cervical carcinoma|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|CIN 3 aJCC v6|carcinoma in situ of cervix|FIGO stage 0 carcinoma of the uterine cervix|FIGO stage 0 cervix carcinoma|cervix uteri carcinoma in situ aJCC v6|carcinoma in situ of cervix uteri aJCC v6|squamous intraepithelial neoplasia, grade III|FIGO stage 0 cervix uteri carcinoma|severe dysplasia of uterine cervix aJCC v6|FIGO stage 0 carcinoma of uterine cervix|cervix carcinoma in situ aJCC v6|carcinoma in situ of cervix aJCC v6|cervix uteri Severe dysplasia aJCC v6|cervical intraepithelial neoplasia grade 3 aJCC v6|cervix intraepithelial neoplasia grade 3 aJCC v6|cervix Ca in situ|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|carcinoma in situ of uterine cervix aJCC v6|cervical intraepithelial neoplasia grade III with severe dysplasia|carcinoma of cervix stage 0|carcinoma in situ of the uterine cervix aJCC v6|severe dysplasia of the uterine cervix aJCC v6|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|grade 3 cervical intraepithelial neoplasia aJCC v6|intraepithelial neoplasia of cervix grade 3 aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|carcinoma in situ of the cervix aJCC v6|severe dysplasia of the cervix uteri aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|cervix uteri carcinoma in situ|cervical cancer stage 0 aJCC v6|FIGO stage 0 carcinoma of cervix|stage 0 uterine cervix carcinoma|cervical Severe dysplasia aJCC v6|stage 0 cervical cancer aJCC v6|severe dysplasia of cervix aJCC v6|intraepithelial neoplasia of the cervix grade 3 aJCC v6|CIN III - severe dyskaryosis|FIGO stage 0 uterine cervix carcinoma|stage 0 cervical cancer|severe dysplasia of cervix uteri aJCC v6|cervical carcinoma in situ aJCC v6|CIN III|uterine cervix Severe dysplasia aJCC v6|severe dysplasia of cervix|severe dysplasia of the cervix aJCC v6|FIGO stage 0 carcinoma of the cervix|uterine cervix carcinoma in situ aJCC v6|CIN III - carcinoma in situ of cervix|carcinoma in situ of uterine cervix|cervix Severe dysplasia aJCC v6 DOID:8991|SCTID:254889004|ICD10:D06.9|ICD10CM:D06.9|ICD10CM:D06|ICD10:D06|UMLS:C0851140|MESH:D018290|ICD9:233.1|NCIT:C4000 owl:Class UBERON:0003697 biolink:NamedThing abdominal wall The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles. tmpak2llvmy_mondo_relaxed.owl abdominal wall proper|layers of the abdominal wall|paries abdominalis|wall of abdomen proper|wall of abdomen owl:Class UBERON:0006135 biolink:NamedThing myelinated nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043209 biolink:NamedThing myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. tmpak2llvmy_mondo_relaxed.owl oligodendrocyte myelin sheath|Schwann cell myelin sheath|astrocyte sheath owl:Class HGNC:21701 biolink:NamedThing BRAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q23.1 biolink:NamedThing chr2q23.1 (Human) tmpak2llvmy_mondo_relaxed.owl 149000000 147900000 hg38 owl:Class MONDO:0014347 biolink:NamedThing short stature with microcephaly and distinctive facies tmpak2llvmy_mondo_relaxed.owl short stature with microcephaly and distinctive facies UMLS:C4014339|OMIM:615789 owl:Class HGNC:14312 biolink:NamedThing CRIPT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009564 biolink:NamedThing distal limb integumentary appendage A nail, hoof or claw. tmpak2llvmy_mondo_relaxed.owl hoof or claw|hoof, claw or nail|keratin plate|unguis|keratin sheath owl:Class MONDO:0014335 biolink:NamedThing diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome tmpak2llvmy_mondo_relaxed.owl diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome|MSCCA|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Orphanet:404437|UMLS:C4014239|ICD10:G98|OMIM:615760 owl:Class HGNC:9751 biolink:NamedThing QARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:09200004 biolink:NamedThing porosity of soil The porosity of some soil. tmpak2llvmy_mondo_relaxed.owl soil porosity owl:Class MONDO:0012466 biolink:NamedThing Parkinson disease 13, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. tmpak2llvmy_mondo_relaxed.owl Parkinson disease 13, autosomal dominant, susceptibility to|young-onset Parkinson disease caused by mutation in HTRA2|PARK13|HTRA2 young-onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 13 MESH:C565204|OMIM:610297 owl:Class OBO:CHR_9606-chr17q biolink:NamedThing chr17q (Human) tmpak2llvmy_mondo_relaxed.owl 83257441 25100000 hg38 owl:Class MONDO:0007104 biolink:NamedThing amyotrophic lateral sclerosis-parkinsonism-dementia complex tmpak2llvmy_mondo_relaxed.owl Lytigo-Bodig disease|Lytico-Bodig disease|PDALS|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|ALS-pDC|Parkinsonism-dementia-ALS complex|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Guam disease Orphanet:90020|OMIM:105500|GARD:0009239|ICD10:G12.2 owl:Class HGNC:17994 biolink:NamedThing TRPM7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032839 biolink:NamedThing dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane. tmpak2llvmy_mondo_relaxed.owl dendritic cytoplasm owl:Class GO:0030425 biolink:NamedThing dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014707 biolink:NamedThing 14q32 duplication syndrome 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. tmpak2llvmy_mondo_relaxed.owl trisomy 14q32|chromosome 14q32 DUPLICATION syndrome, 700-KB|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|myeloproliferative neoplasms, familial, susceptibility to|dup(14)q(32) OMIM:616604|Orphanet:488280|UMLS:C4225449 owl:Class UBERON:0002068 biolink:NamedThing urachus A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001255 biolink:NamedThing urinary bladder distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. tmpak2llvmy_mondo_relaxed.owl bladder|vesica|urocyst|vesica urinaria owl:Class GO:0005886 biolink:NamedThing plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpak2llvmy_mondo_relaxed.owl juxtamembrane|plasmalemma|inner endospore membrane|cell membrane|bacterial inner membrane|plasma membrane lipid bilayer|cytoplasmic membrane|cellular membrane owl:Class UBERON:0015036 biolink:NamedThing pedal digit metatarsal endochondral element A pedal digit metatarsal bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit metatarsal element|pedal digit metatarsal skeletal element owl:Class UBERON:0000983 biolink:NamedThing metatarsus region A metapodium region that is part of a pes. tmpak2llvmy_mondo_relaxed.owl hind metapodium|regio metatarsalis|hindlimb equine cannon region|metatarsal part of foot|metatarsal region|hindlimb cannon region|metatarsus owl:Class MONDO:0002543 biolink:NamedThing adult oligodendroglioma An oligodendroglioma occurring during adulthood. tmpak2llvmy_mondo_relaxed.owl oligodendroglioma of adults|adult oligodendroglioma|adult brain oligodendroglioma|grade II adult oligodendroglial tumor|oligodendroglioma NCIT:C4014|DOID:3186|UMLS:C0279070 owl:Class UBERON:0004293 biolink:NamedThing parasympathetic nerve A nerve that is part of a parasympathetic nervous system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of parasympathetic nervous system owl:Class UBERON:0000011 biolink:NamedThing parasympathetic nervous system The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO]. tmpak2llvmy_mondo_relaxed.owl pars parasympathica divisionis autonomici systematis nervosi|parasympathetic part of autonomic division of nervous system|PNS - parasympathetic owl:Class MONDO:0004278 biolink:NamedThing infiltrating bladder urothelial carcinoma sarcomatoid variant An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. tmpak2llvmy_mondo_relaxed.owl sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements|infiltrating bladder urothelial carcinoma sarcomatoid variant UMLS:C1512743|UMLS:C1512744|DOID:7553|EFO:1000303|ONCOTREE:SCB|UMLS:C1512745|NCIT:C39824 owl:Class PATO:0002129 biolink:NamedThing neoplastic, invasive A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001280 biolink:NamedThing liver parenchyma The functional units of the liver including the lobules. tmpak2llvmy_mondo_relaxed.owl liver parenchyme|hepatic parenchyma|parenchyma of liver|hepatic parenchyme owl:Class NCBITaxon:11077 biolink:NamedThing Kunjin virus tmpak2llvmy_mondo_relaxed.owl West Nile virus - Kunjin GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015025 biolink:NamedThing developmental and epileptic encephalopathy, 51 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 51; EIEE51|MDH2 early infantile epileptic encephalopathy|EIEE51|early infantile epileptic encephalopathy caused by mutation in MDH2|epileptic encephalopathy, early infantile, type 51|epileptic encephalopathy, early infantile, 51|DEE51 OMIM:617339|UMLS:CN240510|DOID:0080433|UMLS:C4479208 owl:Class HGNC:6971 biolink:NamedThing MDH2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004873 biolink:NamedThing splanchnopleure A structure created during embryogenesis when the lateral mesoderm splits into two layers - the inner (or splanchnic) layer adheres to the endoderm, and with it forms the splanchnopleure[WP]. tmpak2llvmy_mondo_relaxed.owl ventral splanchnic mesoderm owl:Class Nb5e135e6321c4558887197711e37d2b8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0017648 biolink:NamedThing ventral body wall The ventral part of the body wall tmpak2llvmy_mondo_relaxed.owl anterior body wall owl:Class GO:1903530 biolink:NamedThing regulation of secretion by cell Any process that modulates the frequency, rate or extent of secretion by cell. tmpak2llvmy_mondo_relaxed.owl regulation of cellular secretion owl:Class UBERON:0001898 biolink:NamedThing hypothalamus A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. tmpak2llvmy_mondo_relaxed.owl hypothalamus|preoptico-hypothalamic area|preoptico-hypothalamic region|Hy owl:Class MONDO:0021140 biolink:NamedThing congenital A characteristic of a disease in which the disease is present at birth, regardless of cause. tmpak2llvmy_mondo_relaxed.owl inborn owl:Class NCBITaxon:6945 biolink:NamedThing Ixodes scapularis tmpak2llvmy_mondo_relaxed.owl black-legged tick|Ixodes dammini|blacklegged tick|deer tick|shoulder tick GC_ID:1 NCBITaxon:29929|NCBITaxon:2528633 ncbi_taxonomy owl:Class MONDO:0012693 biolink:NamedThing glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. tmpak2llvmy_mondo_relaxed.owl GSD type 0b|GSD 0B|glycogen storage disease type 0, muscle|GSD due to muscle and heart glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|heart glycogen storage disease due to glycogen synthase deficiency|glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen synthase deficiency|glycogen storage disease type 0b|muscle glycogen storage disease 0|GSD0B|glycogen storage disease 0, muscle|glycogenosis type 0b SCTID:725027004|UMLS:C1969054|ICD10:E74.0|MESH:C566917|GARD:0010760|OMIM:611556|Orphanet:137625 owl:Class CL:0000059 biolink:NamedThing ameloblast Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. tmpak2llvmy_mondo_relaxed.owl amelocyte|enamel secreting cell FMA:70576|BTO:0001663 non-encoded relationship from VSAO produces VSAO:0000066 CL:0000139|CL:0000053 cell owl:Class UBERON:0001752 biolink:NamedThing enamel A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]. tmpak2llvmy_mondo_relaxed.owl enamel tissue|tooth enamel|enamel of tooth|enameloid owl:Class MONDO:0007352 biolink:NamedThing renal coloboma syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. tmpak2llvmy_mondo_relaxed.owl coloboma of optic nerve with renal disease|optic coloboma, vesicoureteral reflux, and renal anomalies|optic coloboma, vesicoureteral reflux and renal anomalies|renal-coloboma syndrome|papillo-renal syndrome, optic nerve coloboma with renal disease|PAPRS|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|PAPILLORENAL syndrome|papillorenal syndrome|optic nerve coloboma with renal disease|Papillo-renal syndrome|renal-coloboma syndrome with macular abnormalities|CAKUT with or without ocular abnormalities SCTID:446449009|Orphanet:1475|OMIM:120330|UMLS:C1852759|DOID:0090006|GARD:0004106|ICD9:759.89|MESH:C537168|ICD10:Q60.4|NCIT:C123230 https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome owl:Class MONDO:0003473 biolink:NamedThing spinal cord ependymoma An ependymoma that arises from the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord ependymoma|ependymoma of the spinal cord|ependymal neoplasm of the spinal cord|ependymoma of spinal cord DOID:5503|SCTID:254949006|NCIT:C3875|UMLS:C0238432 MONDO:0021544 owl:Class UBERON:0007123 biolink:NamedThing pharyngeal pouch 2 A pharyngeal puch that is between the pharyngeal arches 2 and 3. tmpak2llvmy_mondo_relaxed.owl 2nd arch branchial pouch|2nd pharyngeal pouch endoderm|second arch pharyngeal pouch|pharyngeal pouches 2|second visceral pouch|second pharyngeal pouch|2nd branchial pouch|2nd arch pouch endoderm|2nd arch branchial pouch endoderm|visceral pouch 2 owl:Class MONDO:0023133 biolink:NamedThing Faye-Petersen-Ward-Carey syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C537076|UMLS:C2931417 owl:Class MONDO:0008514 biolink:NamedThing syndactyly type 3 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. tmpak2llvmy_mondo_relaxed.owl syndactyly, type 3|syndactyly of fingers 4 and 5|syndactyly of fingers four and five|Sdty3|Ring and Little finger syndactyly|non-syndromic syndactyly caused by mutation in GJA1|GJA1 non-syndromic syndactyly|SD3|syndactyly, type III|syndactyly of the ring and little finger Orphanet:93404|MESH:C538154|SCTID:715725001|ICD10:Q70.1|UMLS:C1861366|GARD:0005088|OMIM:186100 https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 owl:Class HGNC:4274 biolink:NamedThing GJA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013686 biolink:NamedThing anatomical conduit space An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl foramen space owl:Class HGNC:10990 biolink:NamedThing SLC25A4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002350 biolink:NamedThing conducting system of heart The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO] tmpak2llvmy_mondo_relaxed.owl central conduction system|impulse conducting system|heart conduction system|systema conducente cordis|cardionector|cardiac conduction system|cardiac conducting system|cardiac impulse conducting system|complexus stimulans cordis owl:Class UBERON:0005625 biolink:NamedThing tubotympanic recess lumen The cavity formed by the tubotympanic recess epithelium. tmpak2llvmy_mondo_relaxed.owl tubotympanic recess cavity|cavity of tubotympanic recess|tubotympanic recess space|tubotympanic recess owl:Class CL:0000158 biolink:NamedThing club cell Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium. tmpak2llvmy_mondo_relaxed.owl Clara cell|bronchiolar non-ciliated cell|club cell of bronchiole FMA:14119|BTO:0004811 cell owl:Class GO:0005902 biolink:NamedThing microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. tmpak2llvmy_mondo_relaxed.owl microvilli owl:Class MONDO:0017363 biolink:NamedThing idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). tmpak2llvmy_mondo_relaxed.owl chronic idiopathic eosinophilic pneumonia|chronic eosinophilic pneumonia|Carrington syndrome|eosinophilic idiopathic chronic pneumopathy|chronic eosinophilic pneumonia (CEP)|Carrington's disease|Carrington's pulmonary eosinophilia GARD:0001130|ICD10:J82|Orphanet:2902|MESH:C535590 owl:Class CHEBI:78298 biolink:NamedThing environmental contaminant Any minor or unwanted substance introduced into the environment that can have undesired effects. tmpak2llvmy_mondo_relaxed.owl environmental contaminants owl:Class GO:0035461 biolink:NamedThing vitamin transmembrane transport The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl vitamin membrane transport owl:Class MONDO:0007749 biolink:NamedThing autosomal recessive infantile hypercalcemia A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. tmpak2llvmy_mondo_relaxed.owl hypercalcemia, idiopathic, of infancy|autosomal recessive hypercalcemia, infantile|hypercalcemia, infantile, autosomal recessive|idiopathic infantile hypercalcemia|hypercalcemia, infantile|familial infantile hypercalcemia with suppressed intact parathyroid hormone 2021-01-01 Orphanet:300547|ICD10:E83.5|UMLS:CN203398|SCTID:34225008|NCIT:C129734|UMLS:C4329374 Reason: duplicate. This will be merged with MONDO:0000212 hypercalcemia, infantile owl:Class UBERON:0001434 biolink:NamedThing skeletal system Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. tmpak2llvmy_mondo_relaxed.owl set of all bones and joints|skeleton system|Skelettsystem owl:Class MONDO:0013158 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpak2llvmy_mondo_relaxed.owl MDDGA6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 DOID:0111242|UMLS:C3150414|NCIT:C126743|OMIM:613154 owl:Class HGNC:6511 biolink:NamedThing LARGE1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0007010 biolink:NamedThing preosteoblast Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. tmpak2llvmy_mondo_relaxed.owl osteoprogenitor cell haendel 2012-06-27T10:57:21Z cell owl:Class UBERON:0008883 biolink:NamedThing osteoid Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue. tmpak2llvmy_mondo_relaxed.owl pre-bone|prebone tissue|osteoid tissue|prebone owl:Class MONDO:0009757 biolink:NamedThing Niemann-Pick disease, type C1 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. tmpak2llvmy_mondo_relaxed.owl Niemann-Pick disease, type C1|Niemann-Pick disease without sphingomyelinase deficiency|Niemann-PICK disease, type C1|Niemann-Pick disease, type C|Niemann-Pick disease, subacute juvenile form|NPC1|type C1 Niemann-Pick disease|Niemann-Pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|Niemann-Pick disease type C1|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, chronic neuronopathic form|Niemann-Pick disease, type D SCTID:18927009|NCIT:C126864|DOID:0070113|UMLS:C3179455|OMIM:257220|GARD:0007207|ICD10:E75.2 owl:Class HGNC:7897 biolink:NamedThing NPC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010843 biolink:NamedThing clavicle cartilage element A cartilaginous condensation that has the potential to develop into a clavicle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043292 biolink:NamedThing contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpak2llvmy_mondo_relaxed.owl contractile fibre owl:Class HGNC:6283 biolink:NamedThing KCNK9 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:13719 biolink:NamedThing acetylsalicylate A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group. tmpak2llvmy_mondo_relaxed.owl acetylsalicylate|2-(acetyloxy)benzoate owl:Class UBERON:0006866 biolink:NamedThing terminal part of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. tmpak2llvmy_mondo_relaxed.owl rectum|rectal part of digestive tract|terminal section of digestive tract owl:Class UBERON:0001046 biolink:NamedThing hindgut The caudalmost subdivision of a digestive tract. tmpak2llvmy_mondo_relaxed.owl metenteron owl:Class UBERON:0001445 biolink:NamedThing skeleton of pes Subdivision of skeleton that is the collection of all skeletal elements in a pes, which is the distal section of the posterior hindlimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the ankle, sole, and toes)[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl foot skeleton|pes|set of bones of foot|skeleton of foot|posterior autopodium skeleton|foot region skeleton|pedal skeleton|posterior autopodium|pes skeleton owl:Class UBERON:0005294 biolink:NamedThing gonadal ridge the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary tmpak2llvmy_mondo_relaxed.owl gonadal ridge|genital cord|indifferent gonadal ridge|crista gonadalis|genital ridge owl:Class UBERON:0004122 biolink:NamedThing genitourinary system Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. tmpak2llvmy_mondo_relaxed.owl urogenital tract|Urogenitalsystem|UG tract|GU tract|genitourinary tract|urogenital system|genito-urinary system owl:Class UBERON:0001465 biolink:NamedThing knee A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. tmpak2llvmy_mondo_relaxed.owl knee region owl:Class HP:0004394 biolink:NamedThing Multiple gastric polyps tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:87252009|SNOMEDCT_US:78809005|MSH:C562464|UMLS:C0236048 peter 2008-03-18T09:11:00Z human_phenotype owl:Class MONDO:0021456 biolink:NamedThing benign neoplasm of sternum A benign neoplasm that involves the sternum. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the sternum|benign tumor of sternum|benign sternal neoplasm|benign sternal tumor|benign tumor of the sternum|sternum benign neoplasm NCIT:C8416|SCTID:92410006|UMLS:C0347312 owl:Class MONDO:0007308 biolink:NamedThing Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. tmpak2llvmy_mondo_relaxed.owl CMT 2A|KIF1B Charcot-Marie-Tooth disease type 2|HMSN IIA|CMT2A|Charcot-Marie-Tooth disease, axonal, type 2A|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A1|hereditary motor and sensory neuropathy 2 A|HMSN IIa1|CMT2A1|hereditary motor and sensory neuropathy IIa1|Charcot-Marie-Tooth disease type 2A1|HMSN IIA1|hereditary motor and sensory neuropathy IIA1|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth disease neuronal type 2A1|autosomal dominant Charcot-Marie-Tooth disease type 2A1|Charcot-Marie-Tooth disease, neuronal, type 2A1|Charcot-Marie-Tooth neuropathy, type 2A1|Charcot-Marie-Tooth disease, neuronal, type 2A|Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|HMSN2A1|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|Charcot Marie Tooth disease type 2A ICD10:G60.0|NCIT:C134952|MESH:C566138|SCTID:717016001|DOID:0110154|Orphanet:99946|GARD:0001248|OMIM:118210 https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a owl:Class HGNC:16636 biolink:NamedThing KIF1B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005075 biolink:NamedThing forebrain-midbrain boundary An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain. tmpak2llvmy_mondo_relaxed.owl forebrain midbrain boundary|diencephalic-mesencephalic boundary|forebrain-midbrain boundary region owl:Class UBERON:0001890 biolink:NamedThing forebrain The most anterior region the brain including both the telencephalon and diencephalon. tmpak2llvmy_mondo_relaxed.owl prosencephalon|FB owl:Class MONDO:0014597 biolink:NamedThing immunodeficiency 39 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. tmpak2llvmy_mondo_relaxed.owl IRF7 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in IRF7|immunodeficiency type 39|IMD39|immunodeficiency 39 OMIM:616345|UMLS:C4225358 owl:Class MONDO:0016142 biolink:NamedThing qualitative or quantitative defects of beta-sarcoglycan tmpak2llvmy_mondo_relaxed.owl beta-sarcoglycanopathy GARD:0000870|HGNC:10806|UMLS:C2930900|Orphanet:207063|MESH:C535435 owl:Class HGNC:10806 biolink:NamedThing SGCB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060662 biolink:NamedThing Diamond-Blackfan anemia-like tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia-like|DBAL UMLS:CN873436|OMIM:617911 owl:Class GO:0010463 biolink:NamedThing mesenchymal cell proliferation The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013546 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. tmpak2llvmy_mondo_relaxed.owl neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|TMEM70-related mitochondrial encephalo-cardio-myopathy|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|MC5DN2|TMEM70 defect|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|3-MGCA type IV (3-MGCA-4) (formerly)|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency Orphanet:1194|SCTID:718212006|GARD:0012965|OMIM:614052|ICD10:G71.3|DOID:0060331|MESH:C567528 owl:Class HGNC:26050 biolink:NamedThing TMEM70 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011243 biolink:NamedThing grange syndrome Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. tmpak2llvmy_mondo_relaxed.owl progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|GRNG|grange syndrome|grange occlusive arterial syndrome SCTID:717824007|OMIM:602531|MESH:C566529|ICD10:Q87.8|Orphanet:79094|UMLS:C1865267 owl:Class HGNC:10596 biolink:NamedThing SCN8A tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p1 biolink:NamedThing chr20p1 (Human) tmpak2llvmy_mondo_relaxed.owl 28100000 0 hg38 owl:Class ENVO:01000543 biolink:NamedThing atmospheric layer A layer that is part of the atmosphere. tmpak2llvmy_mondo_relaxed.owl atmospheric layering owl:Class ENVO:01001367 biolink:NamedThing primary aerosol formation process A material transport process during which solid or liquid particles are directly introduced into a volume of gas. tmpak2llvmy_mondo_relaxed.owl primary aerosol formation owl:Class UBERON:0006067 biolink:NamedThing musculature of hindlimb zeugopod Any collection of muscles that is part of a hindlimb zeugopod. tmpak2llvmy_mondo_relaxed.owl set of muscles of leg|leg musculature|muscle group of leg owl:Class MONDO:0000190 biolink:NamedThing ventricular fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) tmpak2llvmy_mondo_relaxed.owl ventricular fibrillation (disease)|fibrillation, ventricular|VFib|VF|ventricular fibrillation ventricular fibrillation (disease) SCTID:71908006|HP:0001663|MESH:D014693|UMLS:C0042510|ICD9:427.41|NCIT:C50799|EFO:0004287 owl:Class GO:0007034 biolink:NamedThing vacuolar transport The directed movement of substances into, out of or within a vacuole. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16268 biolink:NamedThing PNPLA6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904171 biolink:NamedThing negative regulation of bleb assembly Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. tmpak2llvmy_mondo_relaxed.owl down-regulation of bleb assembly|downregulation of bleb assembly|down-regulation of cell blebbing|down regulation of cell blebbing|downregulation of cell blebbing|negative regulation of cell blebbing|down regulation of bleb assembly|inhibition of cell blebbing|inhibition of bleb assembly owl:Class GO:0032060 biolink:NamedThing bleb assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. tmpak2llvmy_mondo_relaxed.owl membrane blebbing|cell blebbing|plasma membrane bleb assembly|blebbing|plasma membrane blebbing owl:Class ECTO:9000519 biolink:NamedThing exposure to dioxygen An exposure to dioxygen. tmpak2llvmy_mondo_relaxed.owl exposure to dioxygen owl:Class UBERON:0002129 biolink:NamedThing cerebellar cortex The superficial gray matter of the cerebellum. It consists of three main layers, the molecular layer, the Purkinje cell layer and the granule cell layer. tmpak2llvmy_mondo_relaxed.owl cortex cerebellaris|cortex of cerebellar hemisphere|cortex cerebelli owl:Class UBERON:0011110 biolink:NamedThing humeroulnar joint The humeroulnar joint, is part of the elbow-joint or the Olecron Joint, between the ulna and humerus bones is the simple hinge-joint, which allows for movements of flexion, extension and circumduction. The Humero-Ulnar Joint is the junction of trochlear notch of the ulna and the trochlea of the humerus. Owing to the obliquity of the trochlea of the humerus, this movement does not take place in the antero-posterior plane of the body of the humerus. When the forearm is extended and supinated, the axis of the arm and forearm are not in the same line; the arm forms an obtuse angle with the forearm. During flexion, however, the forearm and the hand tend to approach the middle line of the body, and thus enable the hand to be easily carried to the face. The accurate adaptation of the trochlea of the humerus, with its prominences and depressions, to the semilunar notch of the ulna, prevents any lateral movement. Flexion is produced by the action of the Biceps brachii and Brachialis, assisted by the Brachioradialis, with a tiny contribution from the muscles arising from the medial epicondyle of the humerus. Extension is produced by the Triceps brachii and AnconC&us, with a tiny contribution from the muscles arising from the lateral epicondyle of the humerus, such as the Extensor digitorum communis. tmpak2llvmy_mondo_relaxed.owl humero-ulnar joint|articulatio humeroulnaris owl:Class HGNC:19100 biolink:NamedThing IL23R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016878 biolink:NamedThing partial deletion of chromosome 16 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 16|partial monosomy of chromosome 16 ICD10:Q93.5|Orphanet:261826 owl:Class OBO:CHR_9606-chr16 biolink:NamedThing chr16 (Human) tmpak2llvmy_mondo_relaxed.owl 90338345 0 hg38 owl:Class UBERON:0011379 biolink:NamedThing male external urethral sphincter The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé. tmpak2llvmy_mondo_relaxed.owl external urethral sphincter of male urethra|bulboglandular muscle|musculus sphincter urethrae externus (urethra masculina)|male urethral sphincter muscle|male sphincter urethrae muscle|musculus sphincter urethrae externus urethrae masculinae|male sphincter urethrae|musculus sphincter urethrae membranaceae|bulboglandular owl:Class UBERON:0000079 biolink:NamedThing male reproductive system The organs associated with producing offspring in the gender that produces spermatozoa. tmpak2llvmy_mondo_relaxed.owl male reproductive tract|male genital system|male organism genitalia|male genital organ|male genitalia|male organism reproductive system|systema genitale masculinum|male genital tract|male genitals|genitalia of male organism|reproductive system of male organism owl:Class UBERON:0003129 biolink:NamedThing skull Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. tmpak2llvmy_mondo_relaxed.owl skeletal system of head|cranial skeleton owl:Class MONDO:0014247 biolink:NamedThing familial episodic pain syndrome with predominantly lower limb involvement A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. tmpak2llvmy_mondo_relaxed.owl FEPS3|episodic pain syndrome, familial, 3|episodic pain syndrome, familial, type 3 ICD10:M79.6|UMLS:C3809899|OMIM:615552|Orphanet:391392|NCIT:C125390 owl:Class HGNC:10583 biolink:NamedThing SCN11A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901532 biolink:NamedThing regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of haemopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation|regulation of haematopoietic progenitor cell differentiation owl:Class MONDO:0014397 biolink:NamedThing combined oxidative phosphorylation defect type 20 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. tmpak2llvmy_mondo_relaxed.owl COXPD20|combined oxidative phosphorylation deficiency 20|VARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 20|combined oxidative phosphorylation deficiency caused by mutation in VARS2 UMLS:C4014660|Orphanet:420728|OMIM:615917|ICD10:G31.8|DOID:0111478 owl:Class HGNC:21642 biolink:NamedThing VARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001571 biolink:NamedThing genioglossus muscle Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue. tmpak2llvmy_mondo_relaxed.owl musculus genioglossus|genioglossus|m. genioglossus owl:Class UBERON:0001650 biolink:NamedThing hypoglossal nerve Cranial nerve that innervates the muscles of the tongue. tmpak2llvmy_mondo_relaxed.owl CN-XII|hypoglossal XII|hypoglossal XII nerve|12n|nervus hypoglossus|hypoglossal nerve [XII]|twelfth cranial nerve|hypoglossal nerve/ root|cranial nerve XII|nervus hypoglossus [xii]|nerve XII|hypoglossal nerve tree|nervi hypoglossalis owl:Class UBERON:8410036 biolink:NamedThing medullary venule of lymph node Medullary venules are a continuation of high endothelial venules which condense repeatedly in the interfollicular cortex and peripheral deep cortical unit and then transition to medullary venules at the corticomedullary junction. The medullary venules condense and return centripetally to the hilar vein. tmpak2llvmy_mondo_relaxed.owl venule of medulla of lymph node owl:Class UBERON:0002007 biolink:NamedThing medulla of lymph node The mdeullary portion of the lymph node, which contains large blood vessels, sinuses and medullary cords that contain antibody-secreting plasma cells. tmpak2llvmy_mondo_relaxed.owl medulla nodi lymphoidei|lymph node medulla owl:Class MONDO:0014817 biolink:NamedThing nephrotic syndrome, type 12 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 12|NUP93 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP93|NPHS12|nephrotic syndrome, type 12; NPHS12 UMLS:C4225166|OMIM:616892|DOID:0080387 owl:Class HGNC:28958 biolink:NamedThing NUP93 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005740 biolink:NamedThing Echovirus infectious disease Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. tmpak2llvmy_mondo_relaxed.owl Echovirus caused disease or disorder|echo Virus infection|infection, echo Virus|infections, Echovirus|Echovirus disease or disorder|infections, echo Virus|Echovirus infection|echo Virus infections|infection, Echovirus EFO:0007247|UMLS:C0013533|SCTID:271532008|MESH:D004457 owl:Class NCBITaxon:33758 biolink:NamedThing Echovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000020 biolink:NamedThing sense organ An organ that is capable of transducing sensory stimulus to the nervous system. tmpak2llvmy_mondo_relaxed.owl sensor|organ of sensory system|organ of sense organ system|sensory organ system organ|sensory organ|sense organ system organ|sensory system organ|sensillum|Sinnesorgan|organ of sensory organ system owl:Class UBERON:0004857 biolink:NamedThing skeletal muscle connective tissue A connective tissue that surrounds a skeletal muscle tissue. tmpak2llvmy_mondo_relaxed.owl skeletal muscle interstitial tissue|textus connectivus of skeletal muscle|portion of connective tissue of skeletal muscle|skeletal muscle tissue textus connectivus|connective tissue of skeletal muscle tissue|portion of connective tissue of skeletal muscle tissue|skeletal muscle portion of connective tissue|skeletal muscle interstitum|textus connectivus of skeletal muscle tissue|skeletal muscle tissue connective tissue|skeletal muscle textus connectivus|connective tissue of skeletal muscle|skeletal muscle tissue portion of connective tissue owl:Class CHEBI:47622 biolink:NamedThing acetate ester Any carboxylic ester where the carboxylic acid component is acetic acid. tmpak2llvmy_mondo_relaxed.owl acetyl esters|an acetyl ester|acetates|Acetyl ester|acetate|acetate esters|Acetic ester owl:Class CHEBI:15366 biolink:NamedThing acetic acid A simple monocarboxylic acid containing two carbons. tmpak2llvmy_mondo_relaxed.owl INS No. 260|E260|E-260|CH3-COOH|acetic acid|Essigsaeure|CH3CO2H|Acetic acid|MeCO2H|E 260|acide acetique|ethoic acid|MeCOOH|Ethylic acid|HOAc|Methanecarboxylic acid|ACETIC ACID|AcOH|Ethanoic acid owl:Class MONDO:0015742 biolink:NamedThing periventricular leukomalacia Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. tmpak2llvmy_mondo_relaxed.owl PVL ICD9:779.7|ICD10:P91.2|GARD:0010285|NCIT:C99013|Orphanet:171676|DOID:13088|UMLS:C0023529|EFO:1001101|MESH:D007969|SCTID:230769007|MedDRA:10052594|ICD9:742.8 https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia owl:Class CL:1001428 biolink:NamedThing bladder urothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001121 cell owl:Class UBERON:0000065 biolink:NamedThing respiratory tract Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002458 biolink:NamedThing spinal artery Arteries that supply the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal arteries owl:Class GO:1903316 biolink:NamedThing positive regulation of nitrogen cycle metabolic process Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process. tmpak2llvmy_mondo_relaxed.owl activation of nitrogen cycle metabolic process|up-regulation of nitrogen cycle metabolic process|upregulation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process owl:Class UBERON:0003121 biolink:NamedThing pharyngeal arch artery 4 The vessels formed within the fourth pair of branchial arches in embryogenesis tmpak2llvmy_mondo_relaxed.owl 4th pharyngeal arch artery|AA4|fourth branchial arch artery|aortic arch 4|4th arch artery|systemic arch|4th branchial arch artery|fourth aortic arch|4th aortic arch artery owl:Class HGNC:10472 biolink:NamedThing RUNX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016203 biolink:NamedThing hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E78.0|Orphanet:209902 owl:Class MONDO:0014220 biolink:NamedThing myopathy due to myoadenylate deaminase deficiency tmpak2llvmy_mondo_relaxed.owl AMP deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|MMDD|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency|myopathy due to myoadenylate deaminase deficiency|adenosine monophosphate deaminase deficiency|AMPD1 deficiency|adenosine monophosphate deaminase 1 deficiency|AMP deaminase 1 deficiency OMIM:615511|GARD:0000547 https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency owl:Class HGNC:468 biolink:NamedThing AMPD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024238 biolink:NamedThing cerebral degeneration A neurodegenerative disease that involves the telencephalon. tmpak2llvmy_mondo_relaxed.owl neurodegenerative disease of telencephalon|cerebral degeneration|telencephalon neurodegenerative disease ICD9:331.9|UMLS:C0154671|SCTID:418143002 owl:Class UBERON:0008337 biolink:NamedThing inguinal part of abdomen The external junctural region between the lower part of the abdomen and the thigh. tmpak2llvmy_mondo_relaxed.owl inguinal region|iliac region|iliac fossa viewed surgically|inguen|groin|groin region|groin area owl:Class MONDO:0007858 biolink:NamedThing palmoplantar keratoderma, punctate type 1A Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, punctate type 1|palmoplantar keratoderma, punctate type IA|punctate palmoplantar keratoderma type 1A|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|AAGAB punctate palmoplantar keratoderma|Kppp1|punctate palmoplantar keratoderma caused by mutation in AAGAB|PPKP1A|keratosis palmoplantaris papulosa|palmoplantar keratoderma, punctate type 1A DOID:0080214|OMIM:148600 owl:Class HGNC:25662 biolink:NamedThing AAGAB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003472 biolink:NamedThing lice infestation A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. tmpak2llvmy_mondo_relaxed.owl infections, Pediculus humanus|pediculosis and Phthirus infection|pediculosis, unspecified|louse infestation|infestation by Pediculus|louse infestation (& [pediculosis and Phthirus] or [lice])|pediculosis + lice|pediculosis and Phthirus infections|mixed pediculosis infestation|mixed pediculosis|pediculosis|Pediculus humanus infection|pediculosis and Phthirus infestation UMLS:C0153317|UMLS:C0277351|ICD10:B85.2|NCIT:C128401|MESH:D010373|UMLS:C0030756|DOID:5502|ICD9:132.9 owl:Class OBO:CHR_9606-chr16p11 biolink:NamedThing chr16p11 (Human) tmpak2llvmy_mondo_relaxed.owl 36800000 28500000 hg38 owl:Class MONDO:0008662 biolink:NamedThing autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. tmpak2llvmy_mondo_relaxed.owl ADVIRC|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|VRCP|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy|vitreoretinochoroidopathy, autosomal dominant|VRCP autosomal dominant|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|vitreoretinochoroidopathy dominant ICD10:H35.5|UMLS:C3888099|OMIM:193220|GARD:0005507|Orphanet:3086|MESH:C536352|SCTID:711162004|DOID:0111569 owl:Class UBERON:0005903 biolink:NamedThing duct of seminal vesicle Each seminal vesicle consists of a single tube, coiled upon itself, and giving off several irregular cecal diverticula; the separate coils, as well as the diverticula, are connected together by fibrous tissue. When uncoiled, the tube is about the diameter of a quill, and varies in length from 10 to 15 cm.; it ends posteriorly in a cul-de-sac; its anterior extremity becomes constricted into a narrow straight duct called the excretory duct of seminal gland (or duct of the seminal vesicle), which joins with the corresponding ductus deferens to form the ejaculatory duct[WP]. tmpak2llvmy_mondo_relaxed.owl ductus excretorius (vesicula seminalis)|ductus excretorius glandulae vesiculosae|excretory duct of seminal gland|seminal vesicle duct owl:Class UBERON:0000999 biolink:NamedThing ejaculatory duct The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl ductus ejaculatorii|ductus ejaculatorius owl:Class UBERON:0014613 biolink:NamedThing cervical spinal cord gray matter A gray matter of spinal cord that is part of a cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cervical spinal cord gray matter owl:Class UBERON:0002726 biolink:NamedThing cervical spinal cord A spinal cord segment that adjacent_to a cervical region. tmpak2llvmy_mondo_relaxed.owl pars cervicalis medullae spinalis|cervical segment of spinal cord|cervical segments of spinal cord [1-8]|segmenta cervicalia medullae spinalis [1-8|cervical spinal cord owl:Class MONDO:0014284 biolink:NamedThing short-rib thoracic dysplasia 10 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. tmpak2llvmy_mondo_relaxed.owl SRTD10|short-rib thoracic dysplasia 10 with or without polydactyly DOID:0110091|ICD10:Q77.2|UMLS:C3810175|ICD10:Q87.5|OMIM:615630 owl:Class MONDO:0003089 biolink:NamedThing extrahepatic bile duct mucoepidermoid carcinoma A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of bile duct|extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct NCIT:C5862|DOID:4681|UMLS:C1332552 owl:Class GO:0002833 biolink:NamedThing positive regulation of response to biotic stimulus Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. tmpak2llvmy_mondo_relaxed.owl up-regulation of response to biotic stimulus|activation of response to biotic stimulus|up regulation of response to biotic stimulus|upregulation of response to biotic stimulus|stimulation of response to biotic stimulus owl:Class GO:0009607 biolink:NamedThing response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. tmpak2llvmy_mondo_relaxed.owl response to biotic stress owl:Class ENVO:01000685 biolink:NamedThing water mass A mass of water. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001676 biolink:NamedThing occipital bone the bone at the lower, posterior part of the skull tmpak2llvmy_mondo_relaxed.owl occipital complex|os occipitale|occipital squama owl:Class Ne15cbda5c962451889dd319d84b40e79 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0011108 biolink:NamedThing synovial joint of pectoral girdle A synovial joint that is part of a pectoral girdle region. tmpak2llvmy_mondo_relaxed.owl joint of shoulder girdle|pectoral girdle joint owl:Class MONDO:0012988 biolink:NamedThing hypogonadotropic hypogonadism 6 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. tmpak2llvmy_mondo_relaxed.owl FGF8 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in FGF8|KAL6|HH6|Kallmann syndrome 6|hypogonadotropic hypogonadism 6 with or without anosmia UMLS:C3552574|OMIM:612702|GARD:0010774|DOID:0090086|MESH:C567199|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 owl:Class HGNC:3686 biolink:NamedThing FGF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011369 biolink:NamedThing hypercholesterolemia, autosomal dominant, 3 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. tmpak2llvmy_mondo_relaxed.owl low density lipoprotein cholesterol level quantitative trait locus 1|Fh3|PCSK9 familial hypercholesterolemia|hypercholesterolemia, autosomal dominant, 3|hypercholesterolemia, autosomal dominant, type 3|familial hypercholesterolemia caused by mutation in PCSK9|HCHOLA3 UMLS:C1863551|OMIM:603776|MESH:C566337 owl:Class HGNC:20001 biolink:NamedThing PCSK9 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001756 biolink:NamedThing middle ear The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]. tmpak2llvmy_mondo_relaxed.owl auris media owl:Class CHEBI:23354 biolink:NamedThing coenzyme A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. tmpak2llvmy_mondo_relaxed.owl coenzyme|coenzymes owl:Class MONDO:0002752 biolink:NamedThing ovarian adenocarcinoma An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl ovarian adenocarcinoma|adenocarcinoma of the ovary|ovary adenocarcinoma|adenocarcinoma of ovary Orphanet:213504|ICD10:C56|MedDRA:10051938|EFO:0006460|DOID:3713|NCIT:C7700 owl:Class MONDO:0011707 biolink:NamedThing familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. tmpak2llvmy_mondo_relaxed.owl dyskinesia, familial, with facial myokymia|FDFM|ADCY5-related dyskinesia GARD:0012722|UMLS:C1847627|MESH:C564676|SCTID:763352005|OMIM:606703|ICD10:G51.4|Orphanet:324588 owl:Class HGNC:236 biolink:NamedThing ADCY5 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:2000045 biolink:NamedThing hydrocarbon-based environmental material tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0015021 biolink:NamedThing combustibility The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001352 biolink:NamedThing external acoustic meatus A tube running from the outer ear to the middle ear. The human ear canal extends from the pinna to the eardrum and is about 26 mm in length and 7 mm in diameter. tmpak2llvmy_mondo_relaxed.owl auditory canal|external acoustic tube|auditory meatus|ear canal|external auditory canal|external auditory tube|external auditory meatus owl:Class GO:0005587 biolink:NamedThing collagen type IV trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010467 biolink:NamedThing gene expression The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018188 biolink:NamedThing genetic intestinal polyposis tmpak2llvmy_mondo_relaxed.owl familial intestinal polyposis Orphanet:363314|ICD10:D12.6|UMLS:C2713443 owl:Class HP:0001159 biolink:NamedThing Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". tmpak2llvmy_mondo_relaxed.owl Webbed fingers or toes SNOMEDCT_US:373413006|UMLS:C0039075|Fyler:4174|MSH:D013576 Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. HP:0001206|HP:0001236 human_phenotype owl:Class MONDO:0008638 biolink:NamedThing varicose disease A vascular disease characterized by the presence of enlarged and tortuous veins. tmpak2llvmy_mondo_relaxed.owl Venous varices|varices|Venous ectasia|varicose veins|varix MESH:D014648|ICD10:I83.90|OMIM:192200|NCIT:C35114|UMLS:C0042345|SCTID:128060009|ICD9:456.8|ICD9:454.9|DOID:799 owl:Class HP:0002619 biolink:NamedThing Varicose veins Enlarged and tortuous veins. tmpak2llvmy_mondo_relaxed.owl UMLS:C0042345|SNOMEDCT_US:399989005|MSH:D014648|SNOMEDCT_US:12856003|SNOMEDCT_US:128060009 human_phenotype owl:Class MONDO:0015285 biolink:NamedThing Carney complex Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. tmpak2llvmy_mondo_relaxed.owl lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|CNC|nevi, atrial myxoma, skin myxoma, ephelides syndrome|Myxoma - spotty pigmentation - endocrine overactivity|Carney's syndrome|lamb syndrome|Carney complex|NAME syndrome|lamb|Carney syndrome|Carney Complex, type 2|Myxoma-spotty pigmentation-endocrine overactivity syndrome|atrial myxoma with lentigines|Carney Complex, type 1 ICD10:D44.8|MESH:D056733|NCIT:C4705|SCTID:733491005|DOID:0050471|Orphanet:1359|UMLS:C0406810|GARD:0001119 owl:Class MONDO:0011551 biolink:NamedThing TH-deficient dopa-responsive dystonia Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. tmpak2llvmy_mondo_relaxed.owl dystonia, DOPA responsive, autosomal recessive|Dopa-responsive dystonia, autosomal recessive|DYT5b|dystonia, Dopa-responsive, autosomal recessive|Segawa syndrome, autosomal recessive|autosomal recessive Segawa syndrome|Parkinsonism, infantile, autosomal recessive|dopa-responsive dystonia, autosomal recessive|autosomal recessive dopa-responsive dystonia|tyrosine hydroxylase-deficient dopa-responsive dystonia|DOPA responsive dystonia, autosomal recessive Orphanet:101150|GARD:0001902|OMIM:605407|UMLS:C2673535|SCTID:715827001|ICD10:G24.1 owl:Class HGNC:11782 biolink:NamedThing TH tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042640 biolink:NamedThing anagen The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair. tmpak2llvmy_mondo_relaxed.owl hair growth owl:Class HGNC:20340 biolink:NamedThing PRICKLE2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002028 biolink:NamedThing hindbrain The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. tmpak2llvmy_mondo_relaxed.owl rhombencephalon owl:Class CL:0002428 biolink:NamedThing double-positive blast A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. tmpak2llvmy_mondo_relaxed.owl T.DPb.Th|activated double-positive thymocyte tmeehan 2010-10-21T01:59:11Z cell owl:Class UBERON:0002056 biolink:NamedThing inferior suprarenal artery Each renal artery gives off some small inferior suprarenal branches to the suprarenal gland, the ureter, and the surrounding cellular tissue and muscles. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria suprarenalis inferior owl:Class UBERON:0001184 biolink:NamedThing renal artery One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. tmpak2llvmy_mondo_relaxed.owl renal arteries|renal arterial tree|arteria renalis owl:Class MONDO:0022654 biolink:NamedThing cardiomyopathy hypogonadism collagenoma syndrome tmpak2llvmy_mondo_relaxed.owl cardiomyopathy-hypogonadism-collagenoma syndrome MESH:C535582 owl:Class MONDO:0014567 biolink:NamedThing glutamate pyruvate transaminase 2 deficiency tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 49|postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|MRT49|GPT2 deficiency|glutamate pyruvate transaminase 2 deficiency|mental retardation, autosomal recessive type 49 Orphanet:477673|OMIM:616281 owl:Class HGNC:18062 biolink:NamedThing GPT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010535 biolink:NamedThing primitive metanephric nephron A primitive nephron that is part of a metanephros. tmpak2llvmy_mondo_relaxed.owl developing metanephric nephron|primitive metanephric nephron|primitive nephron owl:Class GO:1905209 biolink:NamedThing positive regulation of cardiocyte differentiation Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of cardiac cell differentiation|up-regulation of cardiac cell differentiation|positive regulation of heart cell differentiation|up-regulation of heart cell differentiation|positive regulation of cardiac cell differentiation|upregulation of heart cell differentiation|upregulation of cardiocyte differentiation|activation of cardiocyte differentiation|activation of heart cell differentiation|activation of cardiac cell differentiation|up regulation of cardiocyte differentiation|upregulation of cardiac cell differentiation|up-regulation of cardiocyte differentiation|up regulation of heart cell differentiation owl:Class GO:0035051 biolink:NamedThing cardiocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. tmpak2llvmy_mondo_relaxed.owl heart cell differentiation|cardiac cell differentiation owl:Class GO:0030659 biolink:NamedThing cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031410 biolink:NamedThing cytoplasmic vesicle A vesicle found in the cytoplasm of a cell. tmpak2llvmy_mondo_relaxed.owl cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane-enclosed vesicle|cytoplasmic membrane bounded vesicle owl:Class CL:0000954 biolink:NamedThing small pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. tmpak2llvmy_mondo_relaxed.owl small pre-BII cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. cell owl:Class GO:0071708 biolink:NamedThing immunoglobulin light chain V-J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpak2llvmy_mondo_relaxed.owl immunoglobulin V-J joining|immunoglobulin V(D)J recombination|immunoglobulin V(D)J joining owl:Class MONDO:0009747 biolink:NamedThing Navajo neurohepatopathy tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo familial neurogenic arthropathy|mitochondrial DNA depletion syndrome 6|MTDPS6|NN|Navajo neurohepatopathy|Navajo neuropathy|MPV17-related hepatocerebral mitochondrial DNA depletion syndrome GARD:0003972|Orphanet:255229|DOID:0080125|OMIM:256810|MESH:C538344 owl:Class HGNC:7224 biolink:NamedThing MPV17 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002138 biolink:NamedThing endothelial cell of lymphatic vessel A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. tmpak2llvmy_mondo_relaxed.owl LEC|lymphatic endothelial cell BTO:0004167|FMA:68458 tmeehan 2010-08-24T02:05:28Z CL:1000421 cell owl:Class UBERON:0006347 biolink:NamedThing communicating artery An artery that connects two larger arteries. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036072 biolink:NamedThing respiratory primordium epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008947 biolink:NamedThing respiratory primordium tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000894 biolink:NamedThing DN1 thymic pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. tmpak2llvmy_mondo_relaxed.owl double negative 1|DN1 thymocyte|DN1 thymic progenitor T cell|DN1 thymic pro-T lymphocyte|DN1 thymic pro-T-cell|preT.DN1.Th|DN1 thymic pro-T-lymphocyte cell owl:Class CL:0002425 biolink:NamedThing early T lineage precursor A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. tmpak2llvmy_mondo_relaxed.owl ETP|preT.ETP.Th ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. tmeehan 2010-10-21T01:16:24Z cell owl:Class UBERON:0005667 biolink:NamedThing connecting stalk mesoderm tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25704 biolink:NamedThing organic sulfate Compounds of the general formula SO3HOR where R is an organyl group tmpak2llvmy_mondo_relaxed.owl organic sulfates owl:Class CHEBI:58958 biolink:NamedThing organosulfate oxoanion An organic anion of general formula RS(=O)2O(-) where R is an organyl group. tmpak2llvmy_mondo_relaxed.owl organosulfate oxoanions owl:Class UBERON:0006614 biolink:NamedThing aponeurosis A sheet of extracellular matrix. tmpak2llvmy_mondo_relaxed.owl aponeuroses|aponeurotic owl:Class MONDO:0009274 biolink:NamedThing ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. tmpak2llvmy_mondo_relaxed.owl Ghosal syndrome|ghosal hematodiaphyseal dysplasia|Ghosal hematodiaphyseal dysplasia syndrome|GHDD|diaphyseal dysplasia-anemia syndrome|GHOSAL hematodiaphyseal dysplasia OMIM:231095|SCTID:389214003|MESH:C565551|Orphanet:1802|GARD:0010297|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome owl:Class HGNC:11609 biolink:NamedThing TBXAS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019229 biolink:NamedThing regulation of vasoconstriction Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012166 biolink:NamedThing autosomal dominant sensory ataxia 1 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. tmpak2llvmy_mondo_relaxed.owl RNF170 hereditary ataxia|ADSA|SNAX1|ataxia, sensory, 1, autosomal dominant|Adsa|hereditary ataxia caused by mutation in RNF170 DOID:0111170|OMIM:608984|UMLS:C1837015 owl:Class HGNC:25358 biolink:NamedThing RNF170 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006002 biolink:NamedThing vitelline artery The paired arteries that carry blood to the yolk sac from the dorsal aorta tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014909 biolink:NamedThing primary ciliary dyskinesia 34 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 34|ciliary dyskinesia, primary, 34|CILD34|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, 34, without situs inversus|ciliary dyskinesia, primary, type 34|primary ciliary dyskinesia 34 without situs inversus|primary ciliary dyskinesia caused by mutation in DNAJB13 UMLS:C4310722|OMIM:617091|DOID:0110610 owl:Class HGNC:30718 biolink:NamedThing DNAJB13 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13p biolink:NamedThing chr13p (Human) tmpak2llvmy_mondo_relaxed.owl 17700000 0 hg38 owl:Class MONDO:0013717 biolink:NamedThing asphyxiating thoracic dystrophy 5 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 5 with or without polydactyly|WDR19 Jeune syndrome|SRTD5|asphyxiating thoracic dystrophy type 5|ATD5|asphyxiating thoracic dystrophy 5|Jeune syndrome caused by mutation in WDR19 ICD10:Q77.2|UMLS:C3280598|DOID:0110089|OMIM:614376 owl:Class HGNC:18340 biolink:NamedThing WDR19 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051172 biolink:NamedThing negative regulation of nitrogen compound metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl inhibition of nitrogen metabolic process|down regulation of nitrogen metabolic process|down-regulation of nitrogen metabolic process|downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|negative regulation of nitrogen metabolic process owl:Class GO:0006807 biolink:NamedThing nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. tmpak2llvmy_mondo_relaxed.owl nitrogen compound metabolism owl:Class ENVO:01001654 biolink:NamedThing aerosol formation process A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010030 biolink:NamedThing Sjogren syndrome An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain tmpak2llvmy_mondo_relaxed.owl Sjögren syndrome|Sjogren syndrome|syndrome, Sjogren's|Sjogren's syndrome|sicca syndrome|primary Sjogren-Gougerot syndrome|primary Sjögren syndrome|xerodermosteosis|primary Sjögren-Gougerot syndrome ICD10:M35.0|SCTID:83901003|ICD9:710.2|NCIT:C26883|ICD10:M35.00|DOID:12894|EFO:0000699|OMIM:270150|GARD:0010252|MESH:D012859|Orphanet:289390 Editor note: check for differences with Mik PMID:10845583 owl:Class MONDO:0019191 biolink:NamedThing IgG4-related dacryoadenitis and sialadenitis IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. tmpak2llvmy_mondo_relaxed.owl Mikulicz disease|Mikulicz syndrome (former)|Mikulicz disease (former)|Mikulicz's disease|chronic dacryoadenitis and sialadenitis|Mikulicz's disease (former) MESH:D008882|DOID:12900|MedDRA:10051457|UMLS:C0026103|NCIT:C34819|SCTID:7826003|Orphanet:79078|ICD10:K11.8|MedDRA:10052317|GARD:0007043 https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis owl:Class CHEBI:29985 biolink:NamedThing L-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group tmpak2llvmy_mondo_relaxed.owl L-glutamic acid, ion(1-)|L-glutamate|L-glutamate(1-)|hydrogen L-glutamate|(2S)-2-ammoniopentanedioate|L-glutamic acid monoanion owl:Class CHEBI:24319 biolink:NamedThing EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2). tmpak2llvmy_mondo_relaxed.owl L-glutamine synthetase inhibitors|glutamylhydroxamic synthetase inhibitors|L-glutamate:ammonia ligase (ADP-forming) inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors|EC 6.3.1.2 inhibitors|EC 6.3.1.2 inhibitor|glutamine synthetase inhibitor|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|glutamylhydroxamic synthetase inhibitor|L-glutamine synthetase inhibitor|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|glutamate--ammonia ligase inhibitor|glutamine synthetase inhibitors|glutamate--ammonia ligase inhibitors owl:Class MONDO:0011727 biolink:NamedThing anorexia nervosa, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl ANON1|anorexia nervosa, susceptibility to, 1|AN|anorexia nervosa, susceptibility to|anon UMLS:CN244557|OMIM:606788 owl:Class MONDO:0005351 biolink:NamedThing anorexia nervosa A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. tmpak2llvmy_mondo_relaxed.owl NCIT:C34387|EFO:0004215|ICD9:307.1|MESH:D000856|ICD10:F50.00|DOID:8689|SCTID:56882008|ICD10:F50.0 owl:Class UBERON:0008823 biolink:NamedThing neural tube derived brain A brain that develops_from a neural tube. tmpak2llvmy_mondo_relaxed.owl vertebrate brain owl:Class UBERON:0001131 biolink:NamedThing vertebral foramen A foramen within a vertebral element through which the spinal cord runs. It is formed by the anterior segment, and the posterior part, the vertebral arch. tmpak2llvmy_mondo_relaxed.owl vertebra neural canal|foramen vertebrale owl:Class UBERON:0010543 biolink:NamedThing acropodial skeleton The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. tmpak2llvmy_mondo_relaxed.owl digital skeleton|acropodial skeleton|acropodium skeleton|acropodium|set of phalanges|skeletal parts of acropodium|skeletal parts of acropodial region|digits skeleton|phalangeal skeleton|skeleton of digits owl:Class MONDO:0006220 biolink:NamedThing gallbladder squamous cell carcinoma A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of gallbladder|gallbladder squamous cell carcinoma|squamous cell carcinoma of gallbladder|gallbladder squamous cell cancer|epidermoid carcinoma of the gallbladder|squamous cell carcinoma of the gallbladder|gall bladder squamous cell carcinoma|epidermoid gallbladder carcinoma|squamous cell gallbladder carcinoma UMLS:C0279658|EFO:1000267|DOID:5535|NCIT:C9170 owl:Class MONDO:0009677 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. tmpak2llvmy_mondo_relaxed.owl DMDA1|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|Adhalin deficiency, secondary|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|gamma-sarcoglycanopathy|SCARMD|sarcoglycan, gamma, deficiency of|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|muscular dystrophy, Duchenne-like|deficiency of sarcoglycan gamma|SGCG autosomal recessive limb-girdle muscular dystrophy|autosomal recessive Duchenne-like muscular dystrophy type 1|muscular dystrophy, limb-girdle, type 2C|limb-girdle muscular dystrophy, type 2C|LGMD2C|severe childhood autosomal recessive muscular dystrophy North African type|severe childhood autosomal recessive muscular dystrophy, North African type|Duchenne-like muscular dystrophy, autosomal recessive, type 1|Maghrebian myopathy|autosomal recessive limb-girdle muscular dystrophy type 2C|Dmda Orphanet:353|UMLS:C0410173|DOID:0110277|OMIM:253700|ICD10:G71.0|MESH:C535900|GARD:0002429 owl:Class HGNC:10809 biolink:NamedThing SGCG tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002534 biolink:NamedThing cytokine production involved in inflammatory response The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl cytokine production involved in acute inflammatory response owl:Class MONDO:0015256 biolink:NamedThing blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Rodini-Richieri Costa syndrome Orphanet:1258 owl:Class CHEBI:50634 biolink:NamedThing acetazolamide(1-) tmpak2llvmy_mondo_relaxed.owl [(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide|acetazolamide owl:Class MONDO:0044137 biolink:NamedThing vitreous body disorder Any disease affecting the vitreous body of the eye. tmpak2llvmy_mondo_relaxed.owl disease or disorder of vitreous body|disorder of vitreous body|vitreous body disease|vitreous body disease or disorder|disease of vitreous body|vitreous body disorder ICD9:379.29|EFO:0008624|UMLS:C0155365|SCTID:76682005|NCIT:C45256 owl:Class UBERON:0001798 biolink:NamedThing vitreous body Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0019207 biolink:NamedThing chorioretinal region The part of the eye that consists of both the retina and the optic choroid tmpak2llvmy_mondo_relaxed.owl retinachoroid|choroid and retina|retinachoroidal region|chorioretina owl:Class UBERON:0004239 biolink:NamedThing small intestine smooth muscle A portion of smooth muscle tissue that is part of a small intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl small intestine non-striated muscle|small intestine involuntary muscle|small bowel smooth muscle tissue|small intestine smooth muscle tissue|non-striated muscle of small intestine|smooth muscle of small intestine|small bowel involuntary muscle|involuntary muscle of small intestine|smooth muscle tissue of small intestine|smooth muscle tissue of small bowel|small bowel non-striated muscle|non-striated muscle of small bowel|involuntary muscle of small bowel|small bowel smooth muscle|smooth muscle of small bowel owl:Class N60e35a25e5e8422aa08729c1521a5f35 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0000358 biolink:NamedThing sphincter associated smooth muscle cell A smooth muscle cell that is part of a sphincter. A sphincter is a typically circular muscle that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CHEBI:24651 biolink:NamedThing hydroxides Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:43176 biolink:NamedThing hydroxy group tmpak2llvmy_mondo_relaxed.owl HYDROXY GROUP|hydroxyl group|-OH|hydroxy|hydroxyl|hydroxy group owl:Class MONDO:0014865 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CSF3R deficiency tmpak2llvmy_mondo_relaxed.owl neutropenia, Severe congenital, 7, autosomal recessive|SCN7|neutropenia, severe congenital, 7, autosomal recessive OMIM:617014|UMLS:C4310764|ICD10:D70|Orphanet:420702 owl:Class HGNC:2439 biolink:NamedThing CSF3R tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009503 biolink:NamedThing mesenchyme of hindgut Mesenchyme that is part of a developing hindgut. tmpak2llvmy_mondo_relaxed.owl hindgut associated mesenchyme owl:Class MONDO:0004832 biolink:NamedThing esophagus leiomyoma A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom. tmpak2llvmy_mondo_relaxed.owl esophageal leiomyoma|esophagus leiomyoma|leiomyoma of the esophagus|leiomyoma of esophagus SCTID:276805005|NCIT:C3866|DOID:960|UMLS:C0238114 owl:Class OBO:CHR_9606-chr20p12.3 biolink:NamedThing chr20p12.3 (Human) tmpak2llvmy_mondo_relaxed.owl 9200000 5100000 hg38 owl:Class OBO:CHR_9606-chr20p12 biolink:NamedThing chr20p12 (Human) tmpak2llvmy_mondo_relaxed.owl 17900000 5100000 hg38 owl:Class MONDO:0000550 biolink:NamedThing extra-adrenal sympathetic paraganglioma A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. tmpak2llvmy_mondo_relaxed.owl extra-adrenal sympathetic Paraganglionic neoplasm|extra-adrenal pheochromocytoma|extra-adrenal sympathetic paraganglioma|extra-adrenal Chromaffinoma|extra-adrenal chromaffin neoplasm|extraadrenal pheochromocytoma EFO:0000489|NCIT:C48576|DOID:0050936|UMLS:C1257877 Editor note: DO classifies as cancer but we treat as neutral owl:Class GO:0050432 biolink:NamedThing catecholamine secretion The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002353 biolink:NamedThing bundle of His A part of the His-Purkinje system that transmits signals from the AV node to the cardiac Purkinje fibers[GO] tmpak2llvmy_mondo_relaxed.owl bundle of His|fasciculus atrioventricularis|atrio-ventricular bundle|His bundle|AVB|atrioventricular bundle|AV bundle|atrioventricular bundle muscle tissue|atrioventricular fasciculus|A-V bundle owl:Class CL:1000488 biolink:NamedThing cholangiocyte An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. tmpak2llvmy_mondo_relaxed.owl epithelial cell of bile duct FMA:86481 cell owl:Class CL:0005026 biolink:NamedThing hepatoblast Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29557 biolink:NamedThing NEXN tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22q biolink:NamedThing chr22q (Human) tmpak2llvmy_mondo_relaxed.owl 50818468 15000000 hg38 owl:Class UBERON:0010744 biolink:NamedThing sacral vertebra pre-cartilage condensation A sacral vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl sacral vertebral pre-cartilage condensation group owl:Class CL:0002019 biolink:NamedThing Ly-76 high reticulocyte A reticulocyte that is Ly76-high and is Kit-negative. tmpak2llvmy_mondo_relaxed.owl Marker associated with mouse cells. tmeehan 2010-04-26T11:37:00Z cell owl:Class CL:0002017 biolink:NamedThing Kit-negative, Ly-76 high orthochromatophilic erythroblasts An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. tmpak2llvmy_mondo_relaxed.owl Cell surface markers associated with mouse cells. tmeehan 2010-04-26T11:04:15Z cell owl:Class MONDO:0001027 biolink:NamedThing gonococcal seminal vesiculitis A gonorrhea that involves the seminal vesicle. tmpak2llvmy_mondo_relaxed.owl seminal vesicle gonorrhea|gonorrhea of seminal vesicle|gonococcal seminal vesiculitis (acute) SCTID:301990003|UMLS:C0578661|DOID:10400 owl:Class GO:2001213 biolink:NamedThing negative regulation of vasculogenesis Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. tmpak2llvmy_mondo_relaxed.owl negative regulation of vascular morphogenesis owl:Class GO:0001570 biolink:NamedThing vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. tmpak2llvmy_mondo_relaxed.owl vascular morphogenesis owl:Class MONDO:0009728 biolink:NamedThing nephronophthisis 1 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. tmpak2llvmy_mondo_relaxed.owl Nph1|nephronophthisis 1|juvenile nephronophthisis|NPH1|NPHP1 nephronophthisis (disease)|juvenile nephronophthisis 1|nephronophthisis, familial juvenile|nephronophthisis type 1|nephronophthisis (disease) caused by mutation in NPHP1|NPHP1|familial juvenile nephronophthisis DOID:0111112|Orphanet:93592|OMIM:256100|ICD10:Q61.5|UMLS:C1855681|UMLS:CN205459|NCIT:C74998|MESH:C537699|SCTID:444830001 owl:Class HGNC:7905 biolink:NamedThing NPHP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001839 biolink:NamedThing bony labyrinth A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl osseus labyrinth|labyrinthus osseus|osseous labyrinth owl:Class UBERON:0004681 biolink:NamedThing vestibular system The sensory system for the sense of balance. tmpak2llvmy_mondo_relaxed.owl vestibular organ system|vestibulomotor system|vestibular system|equilibrioception system owl:Class MONDO:0001823 biolink:NamedThing sick sinus syndrome A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. tmpak2llvmy_mondo_relaxed.owl sinus node infection|SSS SCTID:36083008|DOID:13884|ICD10:I49.5|NCIT:C62244|MESH:D012804 owl:Class UBERON:0002351 biolink:NamedThing sinoatrial node The part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node[GO]. Subdivision of conducting system of heart at the junction of the right atrium and the superior vena cava, around the sinoatrial nodal branch of right coronary artery and is continuous with the internodal tract[FMA]. tmpak2llvmy_mondo_relaxed.owl nodus sinuatrialis|sinus node|cardiac pacemaker|sinus node of Keith and Flack|SA node|sinoatrial node|node of Keith-Flack|sinu-atrial node|SA nodal muscle tissue|sinuatrial node|sinuatrial nodal muscle tissue|Koch's node owl:Class UBERON:0007641 biolink:NamedThing trigeminal nuclear complex The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. There is also a distinct trigeminal motor nucleus that is medial to the chief sensory nucleus[WP]. tmpak2llvmy_mondo_relaxed.owl trigeminal nuclei|nuclei trigemini owl:Class CHEBI:57504 biolink:NamedThing L-dopa zwitterion An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2S)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|(2S)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|L-dopa owl:Class MONDO:0014167 biolink:NamedThing epilepsy, familial adult myoclonic, 5 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. tmpak2llvmy_mondo_relaxed.owl FAME5|CNTN2 epilepsy, familial adult myoclonic|epilepsy, familial adult myoclonic, 5|epilepsy, familial ADULT myoclonic, 5|epilepsy, familial adult myoclonic, type 5|epilepsy, familial adult myoclonic caused by mutation in CNTN2|cortical myoclonic tremor with epilepsy, familial, 5 DOID:0111691|OMIM:615400|UMLS:C3809374 owl:Class HGNC:2172 biolink:NamedThing CNTN2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035249 biolink:NamedThing synaptic transmission, glutamatergic The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpak2llvmy_mondo_relaxed.owl glutamatergic synaptic transmission owl:Class MONDO:0024562 biolink:NamedThing sick sinus syndrome 1 Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpak2llvmy_mondo_relaxed.owl sick sinus syndrome, congenital|sinus node disease, familial, autosomal recessive|SCN5A sick sinus syndrome|SSS1|sick sinus syndrome 1|sinus bradycardia syndrome, familial|sick sinus syndrome caused by mutation in SCN5A|sinus rhythm, congenital absence of OMIM:608567 owl:Class HGNC:10593 biolink:NamedThing SCN5A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034097 biolink:NamedThing response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpak2llvmy_mondo_relaxed.owl response to cytokine stimulus owl:Class MONDO:0017801 biolink:NamedThing atypical Meigs syndrome tmpak2llvmy_mondo_relaxed.owl atypical Demons-Meigs syndrome|incomplete Meigs syndrome ICD10:D27|Orphanet:314466|UMLS:CN203760 owl:Class UBERON:0004502 biolink:NamedThing skeletal muscle tissue of biceps brachii A portion of skeletal muscle tissue that is part of a biceps brachii [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle tissue of biceps brachii muscle owl:Class UBERON:0001507 biolink:NamedThing biceps brachii A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl biceps muscle|biceps cubiti|biceps brachii %26 brachialis muscles|musculus biceps brachii|biceps brachii muscle|biceps owl:Class OBO:CHR_9606-chr14q12 biolink:NamedThing chr14q12 (Human) tmpak2llvmy_mondo_relaxed.owl 32900000 24100000 hg38 owl:Class OBO:CHR_9606-chr14q1 biolink:NamedThing chr14q1 (Human) tmpak2llvmy_mondo_relaxed.owl 37400000 17200000 hg38 owl:Class GO:0009566 biolink:NamedThing fertilization The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpak2llvmy_mondo_relaxed.owl syngamy owl:Class MONDO:0009372 biolink:NamedThing encephalopathy due to hydroxykynureninuria Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. tmpak2llvmy_mondo_relaxed.owl hydroxykynureninuria|kynureninase deficiency, partial|Xanthurenic aciduria|kynureninase deficiency Orphanet:79155|MESH:C536081|UMLS:C0268474|SCTID:72945002|ICD9:270.2|ICD10:E70.8|GARD:0010039|OMIM:236800 owl:Class HGNC:6469 biolink:NamedThing KYNU tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009450 biolink:NamedThing gamma-aminobutyric acid catabolic process The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpak2llvmy_mondo_relaxed.owl gamma-aminobutyric acid breakdown|4-aminobutanoate catabolism|gamma-aminobutyric acid catabolism|gamma-aminobutyric acid degradation|GABA catabolic process|4-aminobutanoate catabolic process|GABA catabolism|4-aminobutyrate catabolic process|4-aminobutyrate catabolism owl:Class ENVO:01001239 biolink:NamedThing forest canopy tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001243 biolink:NamedThing forest ecosystem An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:360 biolink:NamedThing AIRE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009824 biolink:NamedThing primary hyperoxaluria type 2 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. tmpak2llvmy_mondo_relaxed.owl primary hyperoxaluria type II|HP2|glyceric aciduria|L-glyceric aciduria|primary hyperoxaluria caused by mutation in GRHPR|primary hyperoxaluria type 2|GRHPR primary hyperoxaluria|glyoxylate reductase/hydroxypyruvate reductase deficiency|hyperoxaluria, primary, type II|Oxalosis 2|hyperoxaluria, primary, type 2|D-glycerate dehydrogenase deficiency GARD:0002836|NCIT:C123213|OMIM:260000|ICD10:E74.8|Orphanet:93599|MESH:C536415|SCTID:40951006|UMLS:C0268165|ICD9:271.8|DOID:0111671 https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 owl:Class HGNC:4570 biolink:NamedThing GRHPR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001975 biolink:NamedThing serosa of esophagus A serous membrane that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl oesophagus serous membrane|oesophagus serosa|serous membrane of oesophagus|esophagus serous membrane|serosa of gullet|gullet serous membrane|tunica serosa oesophageae|serous membrane of gullet|serous membrane of esophagus|serous coat of oesophagus|esophagus serosa|gullet serosa|serosa of abdominal part of esophagus|serosa of oesophagus owl:Class UBERON:0002466 biolink:NamedThing intestine secretion Clear to pale yellow watery secretions from the glands lining the small intestine walls. Secretion is stimulated by the mechanical pressure of partly digested food in the intestine. tmpak2llvmy_mondo_relaxed.owl succus entericus|intestinal juice|intestinal secretion owl:Class MONDO:0027772 biolink:NamedThing lung colloid adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells. tmpak2llvmy_mondo_relaxed.owl lung colloid adenocarcinoma|lung mucinous cystic tumor of borderline malignancy|mucinous lung adenocarcinoma|lung mucinous cystadenocarcinoma UMLS:C1708776|NCIT:C45512|DOID:0080303|DOID:0080304 owl:Class MONDO:0004668 biolink:NamedThing fascioliasis A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. tmpak2llvmy_mondo_relaxed.owl infection by fasciola|fasciola hepatica infection|Fasciolosis|sheep liver fluke infection|liver flukes EFO:1001324|UMLS:C0015652|GARD:0006428|DOID:885|SCTID:82308007|UMLS:C1331532|NCIT:C128387|ICD10:B66.3|ICD9:121.3|MESH:D005211 https://rarediseases.info.nih.gov/diseases/6428/fascioliasis owl:Class NCBITaxon:4751 biolink:NamedThing Fungi tmpak2llvmy_mondo_relaxed.owl Mycota|fungi GC_ID:1|PMID:11062127|PMID:12684019 ncbi_taxonomy owl:Class MONDO:0002376 biolink:NamedThing spleen angiosarcoma A malignant vascular neoplasm arising from the spleen. tmpak2llvmy_mondo_relaxed.owl splenic angiosarcoma|angiosarcoma (disease) of spleen|angiosarcoma of spleen|spleen angiosarcoma (disease)|splenic hemangiosarcoma|hemangiosarcoma of the spleen|angiosarcoma of the spleen|hemangiosarcoma of spleen ICD9:159.1|UMLS:C0346424|SCTID:187821001|NCIT:C4564|DOID:265 owl:Class UBERON:0002106 biolink:NamedThing spleen the organ that functions to filter blood and to store red corpuscles and platelets tmpak2llvmy_mondo_relaxed.owl lien owl:Class OBO:CHR_9606-chr14q biolink:NamedThing chr14q (Human) tmpak2llvmy_mondo_relaxed.owl 107043718 17200000 hg38 owl:Class UBERON:0006716 biolink:NamedThing mesopodium region The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) tmpak2llvmy_mondo_relaxed.owl mesopodial limb segment|mesopod|mesopodial segment|carpus/tarsus owl:Class ENVO:00000304 biolink:NamedThing shore That part of the land in immediate contact with a body of water including the area between high and low water lines. tmpak2llvmy_mondo_relaxed.owl foreshore|coastal zone|beach face|shore|SHORE|strand|rivage|seashore|shoreface|inshore owl:Class ENVO:00000063 biolink:NamedThing water body An accumulation of water of varying size. tmpak2llvmy_mondo_relaxed.owl bodies of water|aquatic feature|hydrographic feature|body of water|waterbody owl:Class MONDO:0000288 biolink:NamedThing polycystic echinococcosis tmpak2llvmy_mondo_relaxed.owl neotropical echinococcosis|human polycystic hydatid disease DOID:0050218 owl:Class NCBITaxon:6213 biolink:NamedThing Echinococcus vogeli tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0040503 biolink:NamedThing blepharocheilodontic syndrome 2 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene. tmpak2llvmy_mondo_relaxed.owl BLEPHAROCHEILODONTIC syndrome 2|blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|CTNND1 blepharo-cheilo-odontic syndrome|BCDS2 UMLS:C4540127|DOID:0080346|OMIM:617681 owl:Class HGNC:2515 biolink:NamedThing CTNND1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002194 biolink:NamedThing capsule of lymph node Capsule surrounding lymph node composed of connective tissue with some plain muscle fibers. tmpak2llvmy_mondo_relaxed.owl lymph node capsule|capsula nodi lymphoidei owl:Class UBERON:0002091 biolink:NamedThing appendicular skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. tmpak2llvmy_mondo_relaxed.owl entire appendicular skeleton|appendicular skeleton|paired fin skeleton|skeleton appendiculare owl:Class UBERON:0011249 biolink:NamedThing appendicular skeletal system Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014795 biolink:NamedThing exercise intolerance, riboflavin-responsive tmpak2llvmy_mondo_relaxed.owl exercise intolerance, riboflavin-responsive|RREI UMLS:C4225187|OMIM:616839 owl:Class CHEBI:17015 biolink:NamedThing riboflavin D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide. tmpak2llvmy_mondo_relaxed.owl 7,8-dimethyl-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]benzo[g]pteridine-2,4(3H,10H)-dione|Flavin Bb|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|vitamin G|Beflavine|7,8-dimethyl-10-ribitylisoalloxazine|riboflavin (vit B2)|6,7-dimethyl-9-D-ribitylisoalloxazine|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|riboflavine|Beflavin|Hyflavin|E101|Vitamin B2|Aqua-Flave|lactoflavin|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|Bisulase|Fiboflavin|riboflavin|riboflavina|Flaxain|vitamin B2|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|Dermadram|riboflavinum|Flavaxin|vitasan B2|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol owl:Class MONDO:0019568 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. tmpak2llvmy_mondo_relaxed.owl Ehlers Danlos syndrome, mitis type|Ehlers Danlos syndrome, mild Classic type, formerly|EDSCL2|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, type Ii|Ehlers Danlos syndrome, mitis type, formerly|Ehlers Danlos syndrome, mild Classic type|EDS II, formerly|Ehlers-Danlos syndrome, type Ii, formerly|EDS II ICD10:Q79.6|Orphanet:90318|OMIM:130010|UMLS:C0268336|MESH:C536195|NCIT:C125697 owl:Class HGNC:2210 biolink:NamedThing COL5A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011927 biolink:NamedThing preganglionic sympathetic fiber A cholinergic axonal fiber projecting from the CNS to a sympathetic ganglion tmpak2llvmy_mondo_relaxed.owl sympathetic preganglionic fiber owl:Class UBERON:0001775 biolink:NamedThing ciliary body the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes tmpak2llvmy_mondo_relaxed.owl anterior uvea|ocular ciliary body|ciliary bodies|corpus ciliare owl:Class UBERON:0002413 biolink:NamedThing cervical vertebra A vertebra that is located in the cervical region of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebrae cervicales|cervical vertebrae owl:Class UBERON:0011817 biolink:NamedThing skin appendage placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). tmpak2llvmy_mondo_relaxed.owl cutaneous appendage follicle placode|skin follicle placode owl:Class MONDO:0013393 biolink:NamedThing distal 7q11.23 microdeletion syndrome Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). tmpak2llvmy_mondo_relaxed.owl distal del(7)(q11.23)|distal monosomy 7q11.23|chromosome 7q11.23 deletion syndrome, distal, 1.2-MB|distal chromosome 7Q11.23 deletion syndrome ICD10:Q93.5|Orphanet:254351|OMIM:613729|UMLS:C3150999 owl:Class OBO:CHR_9606-chr7q11.23 biolink:NamedThing chr7q11.23 (Human) tmpak2llvmy_mondo_relaxed.owl 77900000 72700000 hg38 owl:Class UBERON:0000068 biolink:NamedThing embryo stage A life cycle stage that starts with fertilization and ends with the fully formed embryo. tmpak2llvmy_mondo_relaxed.owl embryonic stage|embryogenesis owl:Class UBERON:0000104 biolink:NamedThing life cycle An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. tmpak2llvmy_mondo_relaxed.owl life|entire lifespan|entire life cycle|lifespan owl:Class UBERON:0002517 biolink:NamedThing basicranium The base of skull is the most inferior area of the skull, composed of the endocranium and lower parts of the skull roof. tmpak2llvmy_mondo_relaxed.owl basis cranii|base of skull|base of cranium|cranial base owl:Class PATO:0000068 biolink:NamedThing qualitative tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001780 biolink:NamedThing spinal nerve the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] tmpak2llvmy_mondo_relaxed.owl spinal nerves|spine nerve|spinal column nerve|spinal nerve tree|nerve of backbone|nerve of spine|vertebral column nerve|nerve of spinal column|backbone nerve|nerve of vertebral column|nervi spinales owl:Class MONDO:0014045 biolink:NamedThing Cowden syndrome 3 Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. tmpak2llvmy_mondo_relaxed.owl Cowden disease caused by mutation in SDHD|SDHD Cowden disease|CWS3|Cowden syndrome type 3|Cowden syndrome 3 OMIM:615106|UMLS:C3554516 owl:Class HGNC:10683 biolink:NamedThing SDHD tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002645 biolink:NamedThing positive regulation of tolerance induction Any process that activates or increases the frequency, rate, or extent of tolerance induction. tmpak2llvmy_mondo_relaxed.owl activation of tolerance induction|up regulation of tolerance induction|stimulation of tolerance induction|upregulation of tolerance induction|up-regulation of tolerance induction owl:Class CL:0019002 biolink:NamedThing tracheobronchial chondrocyte Any chondrocyte that is part of the tracheobronchial tree. tmpak2llvmy_mondo_relaxed.owl chondrocyte of tracheobronchial tree 2020-05-07 17:29:51+00:00 owl:Class UBERON:0007196 biolink:NamedThing tracheobronchial tree The structure from the trachea, bronchi, and bronchioles that forms the airways that supply air to the lungs. The lining of the tracheobronchial tree consists of ciliated columnar epithelial cells. tmpak2llvmy_mondo_relaxed.owl tracheobronchial system|arbor tracheobronchialis owl:Class CL:0002104 biolink:NamedThing IgG-negative double negative memory B cell An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative. tmpak2llvmy_mondo_relaxed.owl IgG- double negative memory B-cell|IgG-negative double negative memory B-lymphocyte|IgG-negative double negative memory B lymphocyte|IgG- dn memory B cell|IgG- double negative memory B-lymphocyte|IgG-negative dn memory B lymphocyte|IgG- dn memory B lymphocyte|IgG- dn memory B-lymphocyte|IgG-negative dn memory B cell|IgG-negative dn memory B-lymphocyte|IgG- dn memory B-cell|IgG-negative dn memory B-cell|IgG- double negative memory B cell|IgG-negative double negative memory B-cell|IgG- double negative memory B lymphocyte cell owl:Class GO:0071735 biolink:NamedThing IgG immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl IgG3|IgG2a|IgG4|IgG2c|IgG2b|IgG2|IgG1 owl:Class UBERON:0001288 biolink:NamedThing loop of Henle the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine tmpak2llvmy_mondo_relaxed.owl Henle loop|Henle's loop|ansa nephroni owl:Class HGNC:3179 biolink:NamedThing EDNRA tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:32561 biolink:NamedThing Sauria tmpak2llvmy_mondo_relaxed.owl diapsids|Diapsida GC_ID:1 ncbi_taxonomy owl:Class HGNC:3976 biolink:NamedThing FTH1 tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0025131 biolink:NamedThing plant anatomical entity An anatomical entity that is or was part of a plant. tmpak2llvmy_mondo_relaxed.owl 植物 解剖学（形態）的実体 (Japanese, exact)|entidad anatómica vegetal (Spanish, exact) PO_GIT:224 Includes both material entities such as plant structures and immaterial entities such as plant anatomical spaces. CARO:0000000 'anatomical entity' is defined as: A part of a cellular organism that is either an immaterial entity or a material entity with granularity aboove the level of a protein complex. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. Refers to BFO:0000004 'independent continuant'. rwalls 2010-11-15T11:41:38Z plant_anatomy owl:Class NCBITaxon:33090 biolink:NamedThing Viridiplantae tmpak2llvmy_mondo_relaxed.owl green plants|chlorophyte/embryophyte group|Chlorophyta/Embryophyta group|Chloroplastida|Chlorobionta PMID:16248873|PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005302 biolink:NamedThing attention deficit hyperactivity disorder, inattentive type A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life. tmpak2llvmy_mondo_relaxed.owl attention deficit disorder|ADD|attention deficit hyperactivity disorder, inattentive/distractible type|hyperkinetic disorder|attention deficit hyperactivity disorder, predominantly inattentive type|ADHD DOID:1094|ICD9:314.01|MESH:D001289|NCIT:C35092|ICD9:314.8|EFO:0003888|ICD9:314.9|SCTID:406506008 owl:Class NBO:0000455 biolink:NamedThing attention behavior "The sustained focus of cognitive resources on information while filtering or ignoring extraneous information. Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014297 biolink:NamedThing Joubert syndrome 22 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 22|Joubert syndrome caused by mutation in PDE6D|JBTS22|Joubert syndrome type 22|PDE6D Joubert syndrome UMLS:C3810278|OMIM:615665|DOID:0110991 owl:Class MONDO:0007067 biolink:NamedThing pyruvate kinase hyperactivity Autosomal dominant phenotype characterized by increase of red blood cell ATP. tmpak2llvmy_mondo_relaxed.owl adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity UMLS:C1863224|MESH:C566310|OMIM:102900|EFO:0005840 owl:Class HGNC:9020 biolink:NamedThing PKLR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003362 biolink:NamedThing epithelium of endolymphatic duct An epithelium that is part of a endolymphatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of endolymphatic duct|endolymphatic duct epithelium|endolymphatic duct epithelial tissue owl:Class UBERON:0001860 biolink:NamedThing endolymphatic duct the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac tmpak2llvmy_mondo_relaxed.owl ductus endolymphaticus owl:Class UBERON:0004770 biolink:NamedThing articular system Anatomical system that consists of all the joints of the body. tmpak2llvmy_mondo_relaxed.owl joint system|set of joints of body|set of all joints|set of all joints of body owl:Class MONDO:0000777 biolink:NamedThing gastrointestinal allergy A allergic disease that involves the digestive tract. tmpak2llvmy_mondo_relaxed.owl digestive tract allergic disease|allergic disease of digestive tract DOID:0060502 owl:Class MONDO:0009114 biolink:NamedThing congenital sucrase-isomaltase deficiency A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. tmpak2llvmy_mondo_relaxed.owl disaccharide intolerance i|congenital sucrose-isomaltase intolerance|sucrose isomaltose enzyme deficiency|CSID|congenital sucrose malabsorption|disaccharide intolerance, 1|SI deficiency|genetic sucrase-isomaltose malabsorption|congenital sucrase-isomaltase deficiency|sucrase-isomaltase deficiency, congenital|sucrase-isomaltase deficiency|sucrose-isomaltose malabsorption, congenital|congenital sucrose intolerance|sucrose-isomaltase malabsorption, congenital|sucrose intolerance, congenital|sucrase-alpha-dextrinase deficiency|congenital sucrase-isomaltose malabsorption|invertase deficiency|disaccharide intolerance 1|sucrose intolerance congenital|intestinal sucrase-a-dextrinase deficiency|congenital sucrose-isomaltase malabsorption|disaccharide intolerance GARD:0006183|DOID:0111633|ICD9:271.3|OMIM:222900|GARD:0007710|SCTID:78373000|Orphanet:35122|UMLS:C1283620|ICD10:E74.3|MESH:C538139|MedDRA:10066387|NCIT:C128190 https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption|https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency owl:Class HGNC:10856 biolink:NamedThing SI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016696 biolink:NamedThing anaplastic oligodendroglioma A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). tmpak2llvmy_mondo_relaxed.owl undifferentiated oligodendroglioma|anaplastic oligodendroglioma|oligodendroglioma, anaplastic, malignant|oligodendroglioma, malignant|WHO grade III oligodendroglial neoplasm|malignant oligodendroglioma|WHO grade III oligodendroglial tumor ONCOTREE:AODG|Orphanet:251630|ICDO:9451/3|NCIT:C4326|GARD:0009472|ICD10:C79.1|ICD10:C71.9|EFO:0002501|UMLS:C0334590|MedDRA:10026659 https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma owl:Class PATO:0002092 biolink:NamedThing anaplastic A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018470 biolink:NamedThing renal agenesis Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). tmpak2llvmy_mondo_relaxed.owl hereditary renal aplasia|renal agenesis/hypoplasia|renal aplasia|renal agenesis|renal agenesis (disease)|absent/underdeveloped kidney|hereditary urogenital adysplasia|absent/small kidney|renal hypodysplasia/aplasia|renal adysplasia renal agenesis (disease) SCTID:204942005|HP:0000104|OMIMPS:191830|GARD:0009228|DOID:14766|HP:0008678|ICD10:Q60.2|NCIT:C99041|Orphanet:411709|ICD10:Q60.0|ICD10:Q60.1 owl:Class MONDO:0001558 biolink:NamedThing Potter sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. tmpak2llvmy_mondo_relaxed.owl Potter's sequence|oligohydramnios sequence|Potter's syndrome|Potter syndrome NCIT:C40435|ICD10:Q60.6|DOID:12594|SCTID:41962002|GARD:0004462|UMLS:C0178426 Editor note: check for subtypes, relationship to OMIM:263200 owl:Class UBERON:0001138 biolink:NamedThing superior mesenteric vein In anatomy, the superior mesenteric vein (SMV) is a blood vessel that drains blood from the small intestine. At its termination behind the neck of the pancreas, the SMV combines with the splenic vein to form the hepatic portal vein. The SMV lies to the right of the similarly named artery, the superior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl upper mesenteric vein|vena mesenterica superior owl:Class MONDO:0000671 biolink:NamedThing finger agnosia An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers tmpak2llvmy_mondo_relaxed.owl finger agnosia|finger agnosia (disease)|manual digit agnosia finger agnosia (disease) HP:0010525|DOID:0060141 It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50. owl:Class HP:0010525 biolink:NamedThing Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. tmpak2llvmy_mondo_relaxed.owl UMLS:C0234509|SNOMEDCT_US:3449007|MSH:D000377 peter 2009-09-20T11:37:33Z human_phenotype owl:Class MONDO:0012562 biolink:NamedThing holoprosencephaly 7 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. tmpak2llvmy_mondo_relaxed.owl PTCH1 holoprosencephaly|holoprosencephaly caused by mutation in PTCH1|holoprosencephaly type 7|HPE7|holoprosencephaly 7 MESH:C563660|OMIM:610828|DOID:0110876|UMLS:C1835820 owl:Class HGNC:9585 biolink:NamedThing PTCH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014745 biolink:NamedThing congenital myasthenic syndrome 19 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, 19|congenital myasthenic syndrome caused by mutation in COL13A1|COL13A1 congenital myasthenic syndrome|CMS19|myasthenic syndrome, congenital, type 19 OMIM:616720|UMLS:C4225235|DOID:0110673 owl:Class UBERON:0001558 biolink:NamedThing lower respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] tmpak2llvmy_mondo_relaxed.owl lower respiratory system owl:Class UBERON:0006592 biolink:NamedThing transformed vein A remnant of embryonic structure that develops_from a vein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014588 biolink:NamedThing congenital myasthenic syndrome 11 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. tmpak2llvmy_mondo_relaxed.owl Cms Ie, formerly|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, Ie, formerly|congenital myasthenic syndrome type 11|CMS11|congenital myasthenic syndrome 1e|RAPSN congenital myasthenic syndrome|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|Cms Ie|myasthenic syndrome, congenital, Ie|CMS Ie|congenital myasthenic syndrome caused by mutation in RAPSN|CMS1E DOID:0110675|MESH:C563831|OMIM:616326 owl:Class HGNC:9863 biolink:NamedThing RAPSN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015043 biolink:NamedThing manual digit 1 metacarpus endochondral element A manual digit 1 metacarpus bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit 1 metacarpus skeletal element|manual digit 1 metacarpus element|manual digit I metacarpus endochondral element owl:Class FOODON:03400267 biolink:NamedThing seafood or seafood product (us cfr) Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0267 http://langual.org owl:Class HGNC:16438 biolink:NamedThing SLC4A11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002470 biolink:NamedThing autopod region Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot tmpak2llvmy_mondo_relaxed.owl manus/pes|distal segment of free limb|pod|distal segment of limb|autopodium|paw/hand/foot/hoof|autopod|autopodial limb segment|autopodium region|distal free limb segment|autopodial segment|paw|autopodial element owl:Class UBERON:0006934 biolink:NamedThing sensory epithelium Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue. tmpak2llvmy_mondo_relaxed.owl neuroepithelium owl:Class MONDO:0004465 biolink:NamedThing periampullary adenocarcinoma An adenocarcinoma that arises from the periampullary region. tmpak2llvmy_mondo_relaxed.owl periampullary region of duodenum adenocarcinoma|periampullary adenocarcinoma|periampullary cancer NCIT:C27322|UMLS:C1335377|DOID:8110 owl:Class UBERON:0012273 biolink:NamedThing periampullary region of duodenum tmpak2llvmy_mondo_relaxed.owl periampullary region owl:Class UBERON:0010986 biolink:NamedThing serratus ventralis pre-muscle mass tmpak2llvmy_mondo_relaxed.owl serratus anterior pre-muscle mass owl:Class UBERON:0010963 biolink:NamedThing trunk and cervical myotome group tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004066 biolink:NamedThing frontonasal prominence The unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout. tmpak2llvmy_mondo_relaxed.owl prominentia frontonasalis|frontonasal mass|frontonasal process|embryonic frontonasal prominence|forebrain prominence owl:Class MONDO:0014155 biolink:NamedThing atrial fibrillation, familial, 13 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene. tmpak2llvmy_mondo_relaxed.owl ATFB13|familial atrial fibrillation caused by mutation in SCN1B|atrial fibrillation, familial, type 13|atrial fibrillation, familial, 13|SCN1B familial atrial fibrillation UMLS:C3809311|OMIM:615377 owl:Class HGNC:10586 biolink:NamedThing SCN1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013499 biolink:NamedThing Fanconi anemia complementation group P Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type P|Fanconi anemia caused by mutation in Slx4|Fanconi Anemia, complementation group type P|Fanconi anemia, complementation group P|SLX4 Fanconi anemia|Fanconi anemia caused by mutation in SLX4|Slx4 Fanconi anemia|FANCP OMIM:613951|DOID:0111092 owl:Class HGNC:23845 biolink:NamedThing SLX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013751 biolink:NamedThing cutis laxa, autosomal dominant 2 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant cutis laxa caused by mutation in FBLN5|autosomal dominant cutis laxa 2|ADCL2|cutis laxa, autosomal dominant type 2|cutis laxa, autosomal dominant 2|FBLN5 autosomal dominant cutis laxa UMLS:C3280794|OMIM:614434 owl:Class HGNC:3602 biolink:NamedThing FBLN5 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002829 biolink:NamedThing Arthralgia Joint pain. tmpak2llvmy_mondo_relaxed.owl Joint pain|Joint pains|Arthralgias|Arthritic pain UMLS:C0003862|SNOMEDCT_US:57676002|MSH:D018771 Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. human_phenotype owl:Class MONDO:0013778 biolink:NamedThing pseudohypoaldosteronism type 2C Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. tmpak2llvmy_mondo_relaxed.owl PHA2C|pseudohypoaldosteronism type 2 caused by mutation in WNK1|pseudohypoaldosteronism, type IIC|WNK1 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2C MESH:C564162|OMIM:614492|UMLS:C1840391|Orphanet:88940|ICD10:I15.1 owl:Class GO:0050884 biolink:NamedThing neuromuscular process controlling posture Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. tmpak2llvmy_mondo_relaxed.owl regulation of posture owl:Class GO:0050881 biolink:NamedThing musculoskeletal movement The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005812 biolink:NamedThing influenza An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. tmpak2llvmy_mondo_relaxed.owl orthomyxoviridae infectious disease|Influenza with other manifestations|influenza infection|influenza with non-respiratory manifestation|flu|orthomyxoviridae disease or disorder|orthomyxoviridae caused disease or disorder MESH:D009976|MESH:D007251|SCTID:61700007|ICD9:487.8|DOID:8469|EFO:0007411|ICD10:J11.1|NCIT:C53482|EFO:0007328|ICD9:487 owl:Class MONDO:0005266 biolink:NamedThing diabetic retinopathy A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. tmpak2llvmy_mondo_relaxed.owl retinal abnormality - diabetes-related SCTID:4855003|DOID:8947|ICD10:H36.0|UMLS:C0011884|ICD9:362.0|NCIT:C34538|MESH:D003930|EFO:0003770 owl:Class GO:0022626 biolink:NamedThing cytosolic ribosome A ribosome located in the cytosol. tmpak2llvmy_mondo_relaxed.owl 70S ribosome|80S ribosome owl:Class UBERON:0003887 biolink:NamedThing intraembryonic coelom The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom tmpak2llvmy_mondo_relaxed.owl somatic coelom owl:Class UBERON:0002318 biolink:NamedThing white matter of spinal cord The regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. tmpak2llvmy_mondo_relaxed.owl spinal cord white matter of neuraxis|spinal cord white matter|white substance of spinal cord|spinal cord white substance|substantia alba medullae spinalis|white matter of neuraxis of spinal cord owl:Class MONDO:0004122 biolink:NamedThing thymus small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpak2llvmy_mondo_relaxed.owl Thymus small cell carcinoma|small cell carcinoma of the Thymus|thymus small cell carcinoma|thymic small cell carcinoma|small cell carcinoma of Thymus|thymic small cell carcinoma neuroendocrine type|small cell carcinoma of thymus NCIT:C6460|DOID:7142|UMLS:C1335980|EFO:1000578 owl:Class MONDO:0001621 biolink:NamedThing tick-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. tmpak2llvmy_mondo_relaxed.owl Relapsing fever, tick-borne ICD10:A68.1|UMLS:C0035022|DOID:13036|ICD9:087.1|SCTID:10301003|NCIT:C34976 owl:Class HP:0001649 biolink:NamedThing Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age. tmpak2llvmy_mondo_relaxed.owl Rapid heart beat|Increased heart rate|Racing heart|Fast heart rate|Heart racing|Elevated heart rate MSH:D013610|SNOMEDCT_US:86651002|UMLS:C0039231|UMLS:C4020868|SNOMEDCT_US:3424008 HP:0001720|HP:0001673 human_phenotype owl:Class GO:0045182 biolink:NamedThing translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. tmpak2llvmy_mondo_relaxed.owl translation factor activity owl:Class HsapDv:0000109 biolink:NamedThing 15-year-old human stage Adolescent stage that refers to an adolescent who is over 15 and under 16 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000108 biolink:NamedThing 14-year-old human stage Adolescent stage that refers to an adolescent who is over 14 and under 15 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006567 biolink:NamedThing right ventricle myocardium A myocardium that is part of a right ventricle of a heart. tmpak2llvmy_mondo_relaxed.owl right ventricular myocardium|myocardium of right ventricle owl:Class UBERON:0002080 biolink:NamedThing heart right ventricle A cardiac ventricle that is in the right side of the heart. tmpak2llvmy_mondo_relaxed.owl cardiac right ventricle|right ventricle of heart|right cardiac ventricle|right ventricle|ventriculus dexter owl:Class MONDO:0014925 biolink:NamedThing epilepsy, familial focal, with variable foci 3 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial focal, with variable foci type 3|epilepsy, familial focal, with variable foci 3; FFEVF3|FFEVF3|epilepsy, familial focal, with variable foci 3|NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci caused by mutation in NPRL3 OMIM:617118|UMLS:C4310708 owl:Class MONDO:0016086 biolink:NamedThing osteochondritis of tarsal/metatarsal bone Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone tmpak2llvmy_mondo_relaxed.owl Kohler disease|Osteochondrosis of the tarsal bone|Kohler's Osteochondrosis of the tarsal navicular|Kohler's disease|Kohler's disease of the tarsal navicular|juvenile osteochondrosis of foot|navicular Osteochondrosis|aseptic necrosis of the tarsal bone|osteochondritis of tarsal/metatarsal bone DOID:11760|UMLS:C0158444|Orphanet:2054|UMLS:CN200840|SCTID:203392007|ICD9:732.5|ICD10:M93.2|GARD:0006842 https://rarediseases.info.nih.gov/diseases/6842/kohler-disease owl:Class HP:0010885 biolink:NamedThing Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. tmpak2llvmy_mondo_relaxed.owl Ischaemic bone necrosis|Bone infarction|Osteochondronecrosis|Aseptic bone necrosis|Death of bone due to decreased blood supply|Osteonecrosis|Ischemic bone necrosis|Aseptic necrosis SNOMEDCT_US:398199007|UMLS:C0085660|UMLS:C0029445|SNOMEDCT_US:240196003|MSH:D010020|UMLS:C0520474|UMLS:C0877326|SNOMEDCT_US:72756009 The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. sdoelken 2010-09-24T10:11:05Z human_phenotype owl:Class MONDO:0015804 biolink:NamedThing infant botulism A botulism that occurs between 28 days to one year of life.. tmpak2llvmy_mondo_relaxed.owl infant intestinal toxin-mediated botulism|infant intestinal botulism|infantile onset botulism|botulism of infancy|infant intestinal toxemia botulism|infantile botulism ICD10:A05.1|SCTID:414488002|Orphanet:178478|ICD10:A48.51|UMLS:C0238027|DOID:0050354|NCIT:C128343 owl:Class UBERON:0013399 biolink:NamedThing blood vessel layer of choroid tmpak2llvmy_mondo_relaxed.owl lamina choroideae vasculosa|outer layer of choroid proper|lamina vasculosa (choroid)|Haller's layer|Sattler's layer|vessel layer of choroid|lamina vasculosa of choroid owl:Class UBERON:0004327 biolink:NamedThing middle phalanx of pedal digit 5 A middle phalanx that is part of a pedal digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foot digit 5 intermediate phalanx|intermediate phalanx of 5th toe|middle phalanx of foot digit 5|middle phalanx of little toe|5th toe middle phalanx|middle phalanx of the 5th toe|intermediate phalanx of foot digit 5|middle phalanx of pedal digit V|5th toe intermediate phalanx|middle phalanx of 5th toe|foot digit 5 middle phalanx owl:Class MONDO:0013112 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 3 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene. tmpak2llvmy_mondo_relaxed.owl cystic fibrosis-like syndrome|bronchiectasis caused by mutation in SCNN1G|BESC3|SCNN1G bronchiectasis|bronchiectasis with or without elevated sweat chloride type 3|bronchiectasis with or without elevated sweat chloride 3 DOID:0080528|MESH:C567772|OMIM:613071|UMLS:C2751324 owl:Class MONDO:0017975 biolink:NamedThing sex chromosome disorder of sex development Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. tmpak2llvmy_mondo_relaxed.owl Sex chromosome DSD MESH:D058533|Orphanet:325546 owl:Class MONDO:0017942 biolink:NamedThing Hendra virus infection Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. tmpak2llvmy_mondo_relaxed.owl Hendra henipavirus caused disease or disorder|Hendra henipavirus infectious disease|Hendra henipavirus disease or disorder Orphanet:324632|ICD10:B33.8 owl:Class NCBITaxon:63330 biolink:NamedThing Hendra henipavirus tmpak2llvmy_mondo_relaxed.owl Equine morbillivirus|Hendra virus GC_ID:1|PMID:7701348 NCBITaxon:45337 ncbi_taxonomy owl:Class MONDO:0021229 biolink:NamedThing ciliary body neoplasm A neoplasm (disease) that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl ciliary body neoplasm (disease)|tumor of the ciliary body|tumor of ciliary body|neoplasm of ciliary body|neoplasm of the ciliary body|ciliary body tumor NCIT:C4364|UMLS:C0339349 owl:Class UBERON:0006763 biolink:NamedThing epithelium of conjunctiva Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue tmpak2llvmy_mondo_relaxed.owl conjunctiva epithelium|conjunctival epithelium owl:Class UBERON:0001811 biolink:NamedThing conjunctiva the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball tmpak2llvmy_mondo_relaxed.owl conjunctivae|conjunctivas|wall of conjunctival sac|tunica conjunctiva owl:Class MONDO:0015448 biolink:NamedThing mitochondrial complex III deficiency Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). tmpak2llvmy_mondo_relaxed.owl isolated coenzyme Q-cytochrome C reductase deficiency|isolated complex III deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated mitochondrial respiratory chain complex III deficiency Orphanet:1460|DOID:0111139|ICD10:G71.3 Editor note: check this; isolated in ORDO owl:Class GO:0005750 biolink:NamedThing mitochondrial respiratory chain complex III A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. tmpak2llvmy_mondo_relaxed.owl mitochondrial ubiquinol-cytochrome-c reductase complex|mitochondrial electron transport complex III|mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial cytochrome bc(1) complex|mitochondrial cytochrome bc1 complex|mitochondrial complex III|mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial coenzyme Q-cytochrome c reductase complex owl:Class MONDO:0014692 biolink:NamedThing retinitis pigmentosa 74 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. tmpak2llvmy_mondo_relaxed.owl BBS2 retinitis pigmentosa|RP74|retinitis pigmentosa caused by mutation in BBS2|retinitis pigmentosa type 74|retinitis pigmentosa 74 OMIM:616562|DOID:0110401|UMLS:C4225281|ICD10:H35.5 owl:Class HGNC:967 biolink:NamedThing BBS2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6210 biolink:NamedThing Echinococcus granulosus tmpak2llvmy_mondo_relaxed.owl Echinococcus granulosus sheep strain|Echinococcus granulosus G3 strain|Echinococcus granulosus buffalo strain|Echinococcus granulosus sensu stricto|Echinococcus granulosus G1 strain|Echinococcus granulosus G2 strain|Echinococcus granulosus s. s.|Echinococcus granulosus Tasmanian sheep strain PMID:16352465|PMID:18338180|PMID:17156584|PMID:18180956|PMID:12377596|PMID:12964823|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008966 biolink:NamedThing Aagenaes syndrome Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. tmpak2llvmy_mondo_relaxed.owl Chls|Aagenaes syndrome|cholestasis-lymphedema syndrome|cholestasis lymphedema syndrome|lymphedema cholestasis syndrome|cholestasis-edema syndrome, Norwegian type|lymphedema-cholestasis syndrome|LCS|LCS1 SCTID:28724005|DOID:6691|NCIT:C35709|ICD10:Q82.0|ICD9:576.8|UMLS:C0268314|MESH:C535330|GARD:0000370|Orphanet:1414|OMIM:214900 https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome owl:Class ENVO:00000176 biolink:NamedThing elevation A landform elevated above the surrounding area. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002000 biolink:NamedThing slope A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and relatively flat surrounding land. tmpak2llvmy_mondo_relaxed.owl flank|side owl:Class MONDO:0008676 biolink:NamedThing white sponge nevus 1 Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. tmpak2llvmy_mondo_relaxed.owl white sponge nevus 1|White sponge Nevus type 1|WHITE sponge NEVUS 1|WSN1|leukokeratosis, hereditary mucosal|KRT4 hereditary mucosal leukokeratosis|hereditary mucosal leukokeratosis caused by mutation in KRT4|White sponge Nevus of Cannon OMIM:193900|UMLS:C4011926 owl:Class HGNC:6441 biolink:NamedThing KRT4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003082 biolink:NamedThing myotome A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. tmpak2llvmy_mondo_relaxed.owl myotome region|myotomus|muscle plate|myomeres|myotomes|myomere owl:Class UBERON:0004290 biolink:NamedThing dermomyotome The bilaminar epithelium formed from the myotome and dermatome. tmpak2llvmy_mondo_relaxed.owl dermomyotomes|dermamyotome owl:Class MONDO:0010669 biolink:NamedThing syndactyly type 8 Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers. tmpak2llvmy_mondo_relaxed.owl FGF16 non-syndromic syndactyly|metacarpal 4-5 fusion|fusion of metacarpals 4 and 5|non-syndromic syndactyly caused by mutation in FGF16|MF4|metacarpals 4 and 5 fusion GARD:0003559|ICD10:Q70.0|UMLS:C1839728|OMIM:309630|MESH:C564100|Orphanet:2498|SCTID:715442006 https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion owl:Class HGNC:3672 biolink:NamedThing FGF16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006544 biolink:NamedThing erythema infectiosum A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. tmpak2llvmy_mondo_relaxed.owl fifth disease UMLS:C0085273|ICD10:B08.3|SCTID:34730008|ICD9:057.0|EFO:1000693|NCIT:C84695|MESH:D016731|DOID:8743 owl:Class NCBITaxon:1511900 biolink:NamedThing Primate erythroparvovirus 1 tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006183 biolink:NamedThing mesonephric glomerular capillary . tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005322 biolink:NamedThing mesonephric nephron A nephron that is part of a mesonephros. tmpak2llvmy_mondo_relaxed.owl nephron of mesonephros|stage IV nephron owl:Class MONDO:0002756 biolink:NamedThing solitary plasmacytoma of chest wall A solitary plasmacytoma that arises from the chest wall. tmpak2llvmy_mondo_relaxed.owl chest wall plasmacytoma|plasmacytoma of chest wall|solitary plasmacytoma of chest wall|chest wall solitary plasmacytoma|solitary plasmacytoma of the chest wall UMLS:C1332936|DOID:3723|NCIT:C6711 owl:Class UBERON:0007329 biolink:NamedThing pancreatic duct A duct that collects and carries secretions of the exocrine pancreas to the intestine. tmpak2llvmy_mondo_relaxed.owl duct of pancreas|ductus pancreaticus|pancreas duct owl:Class MONDO:0011170 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|limb-girdle muscular dystrophy due to telethonin deficiency|TCAP autosomal recessive limb-girdle muscular dystrophy|LGMD2G|limb-girdle muscular dystrophy, type 2G|Tcap autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap GARD:0010471|SCTID:720522001|MESH:C566599|DOID:0110281|ICD10:G71.0|OMIM:601954|Orphanet:34514 owl:Class HGNC:11610 biolink:NamedThing TCAP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003003 biolink:NamedThing cervical alveolar soft part sarcoma An alveolar soft part sarcoma arising from the cervix. tmpak2llvmy_mondo_relaxed.owl DOID:4442|UMLS:C1516408|NCIT:C40225 owl:Class MONDO:0024455 biolink:NamedThing autosomal dominant Robinow syndrome 1 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. tmpak2llvmy_mondo_relaxed.owl Robinow syndrome, autosomal dominant 1|fetal face syndrome|dysostosis acral with facial and genital abnormalities|DRS1|WNT5A autosomal dominant Robinow syndrome|acral dysostosis with Facial and genital abnormalities|autosomal dominant Robinow syndrome caused by mutation in WNT5A|Robinow dwarfism DOID:0060766|GARD:0002013|OMIM:180700 https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities owl:Class HGNC:12784 biolink:NamedThing WNT5A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007099 biolink:NamedThing hyoid neural crest Cranial neural crest that migrates into the hyoid arch. tmpak2llvmy_mondo_relaxed.owl hyoid crest owl:Class GO:0007005 biolink:NamedThing mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. tmpak2llvmy_mondo_relaxed.owl mitochondrion organisation|mitochondria organization|mitochondrion organization and biogenesis owl:Class MONDO:0035398 biolink:NamedThing hypomyelination of early myelinating structures tmpak2llvmy_mondo_relaxed.owl HEMS 2022-01-01 Orphanet:599376 Reason: is a phenotype and not a disease. Term to consider: HP:0003429. HP:0003429 owl:Class HGNC:9086 biolink:NamedThing PLP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045759 biolink:NamedThing negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpak2llvmy_mondo_relaxed.owl down-regulation of action potential|down regulation of action potential|inhibition of action potential|downregulation of action potential owl:Class GO:0001508 biolink:NamedThing action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016175 biolink:NamedThing superoxide-generating NAD(P)H oxidase activity Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. tmpak2llvmy_mondo_relaxed.owl cytochrome B-245 owl:Class UBERON:0018413 biolink:NamedThing facial nerve canal A Z-shaped canal running through the temporal bone from the internal acoustic meatus to the stylomastoid foramen. It is located within the middle ear region, according to its shape it is divided into three main segments: the labyrinthine, the tympanic, and the mastoidal segment . tmpak2llvmy_mondo_relaxed.owl fallopian canal|facial canal|canalis nervi facialis owl:Class UBERON:0005359 biolink:NamedThing spinal cord ependyma the ependymal cell layer that lines the spinal cord tmpak2llvmy_mondo_relaxed.owl ependyma of central canal of spinal cord|spinal cord ventricular layer|spinal cord ependymal layer owl:Class UBERON:0034710 biolink:NamedThing spinal cord ventricular layer tmpak2llvmy_mondo_relaxed.owl spinal cord lateral wall ventricular layer owl:Class GO:1904228 biolink:NamedThing positive regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpak2llvmy_mondo_relaxed.owl activation of glycogen synthase activity, transferring glucose-1-phosphate|up regulation of glycogen synthase activity, transferring glucose-1-phosphate|upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class GO:0061547 biolink:NamedThing glycogen synthase activity, transferring glucose-1-phosphate Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050886 biolink:NamedThing endocrine process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpak2llvmy_mondo_relaxed.owl endocrine physiological process|endocrine physiology owl:Class MONDO:0005992 biolink:NamedThing trichinosis A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling. tmpak2llvmy_mondo_relaxed.owl Trichinella spiralis infection|Trichinella disease or disorder|Trichinella infectious disease|Trichinella caused disease or disorder|Trichinellosis ICD9:124|DOID:9784|ICD10:B75|EFO:0007520|NCIT:C85199 owl:Class NCBITaxon:6333 biolink:NamedThing Trichinella tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013726 biolink:NamedThing encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 tmpak2llvmy_mondo_relaxed.owl EMPF1|encephalopathy due to defective mitochondrial and peroxisomal fission 1|lethal encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect UMLS:C3280660|OMIM:614388|ICD10:G31.8|DOID:0070347|Orphanet:330050 owl:Class HGNC:2973 biolink:NamedThing DNM1L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005098 biolink:NamedThing stroke disorder A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. tmpak2llvmy_mondo_relaxed.owl CVA, cerebrovascular accident|stroke syndrome|cerebrovascular accident, (CVA)|stroke|cerebrovascular accident|syndrome, stroke|CVA|undetermined stroke|cerebral infarction NCIT:C3390|NIFSTD:birnlex_12783|MESH:D020521|HP:0001297|EFO:0000712|SCTID:230690007 Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. owl:Class MONDO:0007548 biolink:NamedThing transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. tmpak2llvmy_mondo_relaxed.owl DEB, bullous dermolysis of the newborn|dystrophic epidermolysis bullosa, neonatal|MONDON|DEB-BDN|epidermolysis bullosa dystrophica, dominant neonatal form|TBDN|epidermolysis bullosa dystrophica, neonatal form|transient bullous dermolysis of the newborn DOID:0111345|UMLS:C1851573|OMIM:131705|GARD:0010010|ICD10:Q81.2|Orphanet:79411|MESH:C536979 https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn owl:Class UBERON:0001514 biolink:NamedThing descending aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl aorta descendens|pars descendens aortae owl:Class UBERON:0001009 biolink:NamedThing circulatory system organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. tmpak2llvmy_mondo_relaxed.owl systema cardiovasculare owl:Class UBERON:0005876 biolink:NamedThing undifferentiated genital tubercle the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin tmpak2llvmy_mondo_relaxed.owl undifferentiated genital tubercle|tuberculum phallicum|phallic tubercle|tuberculum genitale|genital tubercle owl:Class UBERON:0011757 biolink:NamedThing differentiated genital tubercle . tmpak2llvmy_mondo_relaxed.owl primordial phallus|phallus primordialis|phallus owl:Class MONDO:0013406 biolink:NamedThing age related macular degeneration 6 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. tmpak2llvmy_mondo_relaxed.owl ARMD6|age-related macular degeneration caused by mutation in RAX2|RAX2 age-related macular degeneration|macular degeneration, age-related, 6|age related macular degeneration type 6|macular Degeneration, age-related, type 6 DOID:0110018|MESH:C563674|UMLS:C3151060|OMIM:613757 owl:Class HGNC:18286 biolink:NamedThing RAX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014887 biolink:NamedThing bone marrow failure syndrome 3 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. tmpak2llvmy_mondo_relaxed.owl bone marrow failure syndrome type 3|bone marrow failure syndrome caused by mutation in DNAJC21|DNAJC21 bone marrow failure syndrome|bone marrow failure syndrome 3|BMFS3 OMIM:617052|UMLS:C4310744 owl:Class HGNC:27030 biolink:NamedThing DNAJC21 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q22.3 biolink:NamedThing chr9q22.3 (Human) tmpak2llvmy_mondo_relaxed.owl 99800000 91200000 hg38 owl:Class OBO:CHR_9606-chr9q22 biolink:NamedThing chr9q22 (Human) tmpak2llvmy_mondo_relaxed.owl 99800000 87800000 hg38 owl:Class UBERON:0001961 biolink:NamedThing mucosa-associated lymphoid tissue diffuse system of small concentrations of lymphoid tissue found in various sites of the body such as the gastrointestinal tract, thyroid, breast, lung, salivary glands, eye, and skin[WP]. Mucosal-associated lymphoid tissue is typically found as nodules associated with mucosal epithelia with distinct internal structures including B- and T-zones for the activation of lymphocytes[GO]. tmpak2llvmy_mondo_relaxed.owl mucosa associated lymphoid tissue|mucosal-associated lymphatic tissue|mucosa-associated lymphoid tissue|epithelio-lymphoid tissue|mucosal-associated lymphoid tissue|mucosa associated lymphatic tissue|MALT owl:Class N698204ae60584d65a0b9c83947b2d090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0003281 biolink:NamedThing mesentery of stomach The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum. tmpak2llvmy_mondo_relaxed.owl mesentery of ventriculus|mesogastrium|mesogaster|mesogastium|stomach mesentery|ventriculus mesentery owl:Class UBERON:0000945 biolink:NamedThing stomach An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. tmpak2llvmy_mondo_relaxed.owl anterior intestine|stomach chamber|ventriculus|gaster|mesenteron owl:Class MONDO:0001506 biolink:NamedThing prostatocystitis tmpak2llvmy_mondo_relaxed.owl ICD10:N41.3|DOID:12355|ICD9:601.3|UMLS:C0156291|SCTID:67685000 owl:Class UBERON:0003394 biolink:NamedThing mesentery of hindgut A mesentery that is part of a hindgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hindgut mesentery owl:Class MONDO:0011826 biolink:NamedThing glucocorticoid deficiency 2 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene. tmpak2llvmy_mondo_relaxed.owl GCCD2|glucocorticoid deficiency 2|familial glucocorticoid deficiency 2|familial glucocorticoid deficiency caused by mutation in MRAP|glucocorticoid deficiency type 2|MRAP familial glucocorticoid deficiency UMLS:C1846284|OMIM:607398|NCIT:C123728 owl:Class HGNC:1304 biolink:NamedThing MRAP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035662 biolink:NamedThing parotid vein tmpak2llvmy_mondo_relaxed.owl anterior parotid vein|parotid branch of facial vein owl:Class UBERON:0001985 biolink:NamedThing corneal endothelium A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP]. tmpak2llvmy_mondo_relaxed.owl epithelium posterius corneae|cornea endothelium|endothelium of cornea owl:Class MONDO:0018461 biolink:NamedThing Angelman syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl ICD10:Q93.5|UMLS:CN237441|Orphanet:411511 owl:Class SO:1000008 biolink:NamedThing point_mutation A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. tmpak2llvmy_mondo_relaxed.owl point mutation owl:Class MONDO:0014083 biolink:NamedThing agammaglobulinemia 7, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. tmpak2llvmy_mondo_relaxed.owl PIK3R1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|autosomal agammaglobulinemia caused by mutation in PIK3R1|agammaglobulinemia 7, autosomal recessive|AGM7 UMLS:C3554689|OMIM:615214 owl:Class HGNC:6638 biolink:NamedThing LMNB2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009887 biolink:NamedThing interlobar vein The interlobar veins are veins of the renal circulation which drain the renal lobes. tmpak2llvmy_mondo_relaxed.owl venae interlobares renis|interlobar vein of kidney|set of interlobar veins of kidney|interlobar veins of kidney owl:Class MONDO:0011718 biolink:NamedThing primary ciliary dyskinesia 2 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. tmpak2llvmy_mondo_relaxed.owl DNAAF3 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 2|ciliary dyskinesia, primary, 2, with or without situs inversus|primary ciliary dyskinesia caused by mutation in DNAAF3|primary ciliary dyskinesia 2 with or without situs inversus|primary ciliary dyskinesia type 2|ciliary dyskinesia, primary, 2|CILD2 DOID:0110626|UMLS:C1847554|ICD10:Q34.8|MESH:C535277|OMIM:606763 owl:Class HGNC:30492 biolink:NamedThing DNAAF3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000458 biolink:NamedThing endocervix The region of the opening of the uterine cervix into the uterine cavity. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6264 biolink:NamedThing Toxocara tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0034644 biolink:NamedThing cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpak2llvmy_mondo_relaxed.owl cellular response to ultraviolet radiation stimulus|cellular response to UV light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet light stimulus owl:Class GO:0090257 biolink:NamedThing regulation of muscle system process Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013687 biolink:NamedThing autosomal recessive spinocerebellar ataxia 12 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia with intellectual disability and epilepsy|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|spinocerebellar ataxia with mental retardation and epilepsy|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia, autosomal recessive type 12|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive spinocerebellar ataxia 12|spinocerebellar ataxia, autosomal recessive 12|SCAR12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX DOID:0080060|ICD10:G11.1|UMLS:C3280452|OMIM:614322|Orphanet:284282 owl:Class HGNC:12799 biolink:NamedThing WWOX tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004911 biolink:NamedThing epithelium of female gonad An epithelium surrounding an ovary. tmpak2llvmy_mondo_relaxed.owl ovarian epithelium|ovarian sheath|ovary epithelium owl:Class MONDO:0016751 biolink:NamedThing malignant perineurioma A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. tmpak2llvmy_mondo_relaxed.owl perineurioma, malignant|malignant peripheral nerve sheath tumor with perineurial differentiation|perineurial malignant peripheral nerve sheath tumor NCIT:C66845|UMLS:C1266188|ICDO:9571/3|Orphanet:252128|SCTID:761958009 owl:Class UBERON:0010849 biolink:NamedThing tibia cartilage element A cartilaginous condensation that has the potential to develop into a tibia. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010089 biolink:NamedThing isolated sulfite oxidase deficiency tmpak2llvmy_mondo_relaxed.owl ISOD|isolated sulfite oxidase deficiency|sulfite oxidase deficiency, isolated|Sulfocysteinuria|sulfite oxidase deficiency|sulfocysteinuria SCTID:367368009|DOID:0111270|Orphanet:99731|OMIM:272300|MESH:C538141|GARD:0005062|ICD10:E72.1 owl:Class HGNC:11460 biolink:NamedThing SUOX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014974 biolink:NamedThing sudden cardiac failure, alcohol-induced tmpak2llvmy_mondo_relaxed.owl sudden cardiac failure, alcohol-induced; SCFAI|SCFAI|sudden Cardiac failure, alcohol-induced OMIM:617223|UMLS:C4310663 owl:Class HGNC:28883 biolink:NamedThing PPA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035809 biolink:NamedThing serous cavity tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002430 biolink:NamedThing CD4-intermediate, CD8-positive double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. tmpak2llvmy_mondo_relaxed.owl T.4int8+.Th tmeehan 2010-10-21T02:29:19Z cell owl:Class UBERON:0002386 biolink:NamedThing forelimb zeugopod The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants. tmpak2llvmy_mondo_relaxed.owl regio antebrachialis|wing zeugopod|antebrachium|middle limb segment of brachial region|brachial region middle limb segment|arm zeugopod|brachial region zeugopod|forelimb epipodium|lower arm|zeugopod of forelimb|lower segment of arm|antibrachium|forelimb zygopod|forelimb zeugopodium|arm middle limb segment|middle limb segment of forelimb|middle limb segment of proximal segment of free upper limb|antebrachial region|zeugopod of proximal segment of free upper limb|fore epipodium|middle limb segment of arm|forearm|zeugopod of brachial region|zeugopod of arm|intermediate segment of free upper limb owl:Class MONDO:0015795 biolink:NamedThing undifferentiated embryonal sarcoma of the liver Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. tmpak2llvmy_mondo_relaxed.owl UES|undifferentiated sarcoma of the liver|embryonal sarcoma of the liver ONCOTREE:UESL|Orphanet:178315|SCTID:716648006 owl:Class MONDO:0005607 biolink:NamedThing chronic bronchitis A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. tmpak2llvmy_mondo_relaxed.owl bronchitis, chronic ICD9:491.9|UMLS:C0008677|ICD9:491|NCIT:C26722|ICD9:491.8|EFO:0006505|SCTID:63480004 owl:Class UBERON:0001768 biolink:NamedThing uvea the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. tmpak2llvmy_mondo_relaxed.owl tunica vasculosa bulbi|uveal tract|vascular layer of eyeball|tunica vasculosa of eyeball|tunica vasculatis oculi|pars iridica retinae|uvea owl:Class UBERON:0001776 biolink:NamedThing optic choroid vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. tmpak2llvmy_mondo_relaxed.owl choroidea|posterior uvea|choroid|chorioid|optic choroid|eye choroid|choroid coat owl:Class ECTO:9001347 biolink:NamedThing exposure to sodium chloride An exposure to sodium chloride. tmpak2llvmy_mondo_relaxed.owl exposure to sodium chloride owl:Class CHEBI:26710 biolink:NamedThing sodium chloride An inorganic chloride salt having sodium(1+) as the counterion. tmpak2llvmy_mondo_relaxed.owl natrii chloridum|table salt|common salt|Kochsalz|salt|Natriumchlorid|cloruro sodico|NaCl|rock salt|halite|sodium chloride|chlorure de sodium owl:Class CHEBI:26708 biolink:NamedThing sodium atom tmpak2llvmy_mondo_relaxed.owl sodio|Na|11Na|sodium|natrium|Natrium owl:Class PATO:0001306 biolink:NamedThing decreased temperature A temperature which is relatively low. tmpak2llvmy_mondo_relaxed.owl low temperature|cold owl:Class GO:0042446 biolink:NamedThing hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpak2llvmy_mondo_relaxed.owl hormone anabolism|hormone biosynthesis|hormone synthesis|hormone formation owl:Class CL:0000031 biolink:NamedThing neuroblast (sensu Vertebrata) A cell that will develop into a neuron often after a migration phase. tmpak2llvmy_mondo_relaxed.owl neuroblast FMA:70563|BTO:0000930 CL:0000337 cell owl:Class UBERON:0004913 biolink:NamedThing hepatopancreatic ampulla A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. tmpak2llvmy_mondo_relaxed.owl Vater's ampulla|ampulla Vaterii|ampulla of bile duct|ampulla biliaropancreatica|ampulla hepatopancreatica|ampulla of Vater|papilla duodeni major|biliaropancreatic ampulla|papilla Vateri owl:Class UBERON:0001324 biolink:NamedThing common fibular nerve A nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscle[MP]. tmpak2llvmy_mondo_relaxed.owl n. peroneus communis|lateral popliteal nerve|nervus fibularis communis|extrernal peroneal nerve|common peroneal nerve|n. fibularis communis|nervus peroneus communis owl:Class UBERON:0001322 biolink:NamedThing sciatic nerve A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb. tmpak2llvmy_mondo_relaxed.owl nervus sciaticus|ischiatic nerve|nervus ischiadicus|ischiadic nerve owl:Class CHEBI:77932 biolink:NamedThing tetracycline zwitterion A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpak2llvmy_mondo_relaxed.owl tetracycline|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate owl:Class CHEBI:35820 biolink:NamedThing antiprotozoal drug Any antimicrobial drug which is used to treat or prevent protozoal infections. tmpak2llvmy_mondo_relaxed.owl antiprotozoal agent|antiprotozoal drugs|antiprotozoal agents owl:Class UBERON:0005984 biolink:NamedThing subendocardium layer The layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000329 biolink:NamedThing tracheal goblet cell A goblet cell that is part of the epithelium of trachea. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of trachea FMA:263075 cell owl:Class UBERON:0001901 biolink:NamedThing epithelium of trachea the epithelial lining of the trachea which contains numerous ciliated cells tmpak2llvmy_mondo_relaxed.owl tracheal epithelium|trachea epithelial tissue|epithelial tissue of trachea|trachea epithelium|epithelium of windpipe|windpipe epithelium|epithelial tissue of windpipe|windpipe epithelial tissue owl:Class MONDO:0014398 biolink:NamedThing combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. tmpak2llvmy_mondo_relaxed.owl COXPD21|combined oxidative phosphorylation deficiency 21|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2|TARS2 combined oxidative phosphorylation deficiency EFO:0009032|DOID:0111465|Orphanet:420733|UMLS:C4014668|OMIM:615918|SCTID:763211004|ICD10:E88.8 owl:Class HGNC:30740 biolink:NamedThing TARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035936 biolink:NamedThing testosterone secretion The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015215 biolink:NamedThing median arcuate ligament The median arcuate ligament is a ligament under the diaphragm that connects the right and left crura of diaphragm. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009787 biolink:NamedThing 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. tmpak2llvmy_mondo_relaxed.owl optic atrophy 3, autosomal recessive|Iraqi-Jewish 'optic atrophy plus'|autosomal recessive optic atrophy type 3|MGCA3|OPA3 3-methylglutaconic aciduria|Costeff syndrome|3-methylglutaconic aciduria type III|autosomal recessive optic atrophy plus syndrome|OPA3 defect|MGA3|optic atrophy infantile with chorea and spastic paraplegia|3-methylglutaconic aciduria caused by mutation in OPA3|OPA3, autosomal recessive|Iraqi Jewish optic atrophy plus|3-methylglutaconic aciduria, type 3|3-methylglutaconic aciduria, type III|infantile optic atrophy with chorea and spastic paraplegia|Iraqi-Jewish optic atrophy plus|MGA type III|Costeff optic atrophy syndrome|optic atrophy, infantile, with chorea and spastic paraplegia|optic atrophy plus syndrome|3-alpha methylglutaconic aciduria type III|MGA, type 3 Orphanet:67047|GARD:0005663|UMLS:C0574084|ICD10:E71.1|MESH:C535311|DOID:0110004|OMIM:258501|SCTID:297232009 owl:Class HGNC:8142 biolink:NamedThing OPA3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0001021 biolink:NamedThing CD34-positive, CD38-positive common lymphoid progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. tmpak2llvmy_mondo_relaxed.owl CD10-positive common lymphocyte progenitor|CD10-positive common lymphocyte precursor|CD10-positive common lymphoid precursor These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). cell owl:Class UBERON:0001233 biolink:NamedThing right adrenal gland An adrenal gland that is in the right side of the abdomen tmpak2llvmy_mondo_relaxed.owl glandula suprarenalis dexter|right suprarenal gland owl:Class UBERON:0000916 biolink:NamedThing abdomen The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. tmpak2llvmy_mondo_relaxed.owl adult abdomen|belly|abdominopelvis|abdominopelvic region|celiac region owl:Class UBERON:0012142 biolink:NamedThing pedal digitopodium region A digitopodium region that is part of a pes[Obol]. This includes the toes and metatarsal region, but excludes the tarsals region. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410021 biolink:NamedThing inguinal region skin The skin covering the inguinal region between the abdomen and the thigh on either side of the pubic bone. tmpak2llvmy_mondo_relaxed.owl zone of skin of groin|inguinal skin|skin of groin|skin of inguinal region|zone of skin of inguinal region|groin skin owl:Class UBERON:0006566 biolink:NamedThing left ventricle myocardium A myocardium that is part of a left ventricle of a heart. tmpak2llvmy_mondo_relaxed.owl left ventricular myocardium|myocardium of left ventricle owl:Class UBERON:0005194 biolink:NamedThing thoracic vein A vein that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000915 biolink:NamedThing thoracic segment of trunk Subdivision of trunk that lies between the head and the abdomen. tmpak2llvmy_mondo_relaxed.owl thorax|upper body|anterior subdivision of trunk|upper trunk owl:Class OBO:CHR_9606-chr17q11.2 biolink:NamedThing chr17q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 33500000 27400000 hg38 owl:Class FOODON:00002501 biolink:NamedThing multi-component food product A food product consisting of food material derived from ingredients sourced from multiple organisms. tmpak2llvmy_mondo_relaxed.owl 2019-01-23 22:40:32+00:00 The definition of this is being discussed in issue: https://github.com/FoodOntology/foodon/issues/57 Namely, how to characterize the threshold of ingredients that make for multi-component classification? Salt, pepper, spices wouldn't normally make a food multi-component? multi-ingredient Damion Dooley owl:Class MONDO:0004491 biolink:NamedThing uterine corpus choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpak2llvmy_mondo_relaxed.owl choriocarcinoma|uterine corpus gestational choriocarcinoma|body of uterus choriocarcinoma (disease)|gestational uterine corpus choriocarcinoma DOID:8188|UMLS:C1336904|ONCOTREE:UCCA|NCIT:C27246 owl:Class MONDO:0014453 biolink:NamedThing immunodeficiency 36 tmpak2llvmy_mondo_relaxed.owl IMD36|immunodeficiency 36|immunodeficiency type 36 UMLS:C4014934|OMIM:616005 owl:Class UBERON:0000974 biolink:NamedThing neck An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. tmpak2llvmy_mondo_relaxed.owl collum|neck (volume) owl:Class UBERON:0000153 biolink:NamedThing anterior region of body tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002246 biolink:NamedThing wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. tmpak2llvmy_mondo_relaxed.owl inflammatory response wound healing|healing during inflammatory response owl:Class MONDO:0014894 biolink:NamedThing Meier-Gorlin syndrome 7 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. tmpak2llvmy_mondo_relaxed.owl MGORS7|Meier-Gorlin syndrome 7; MGORS7|Meier-Gorlin syndrome type 7|Meier-Gorlin syndrome caused by mutation in CDC45|CDC45 Meier-Gorlin syndrome|Meier-Gorlin syndrome 7 DOID:0080518|OMIM:617063|UMLS:C4310738 owl:Class HGNC:1739 biolink:NamedThing CDC45 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:0010001 biolink:NamedThing anthropogenic environmental material Anthropogenic material in or on which organisms may live. tmpak2llvmy_mondo_relaxed.owl owl:Class N4f7cf6c74a3047bfaccb2bfca891990c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0006141 biolink:NamedThing regulation of purine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. tmpak2llvmy_mondo_relaxed.owl regulation of purine base metabolism|regulation of purine base metabolic process owl:Class HGNC:4318 biolink:NamedThing GLI2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009058 biolink:NamedThing cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. tmpak2llvmy_mondo_relaxed.owl cystathioninuria (disease)|gamma-cystathionase deficiency|Cystathione gamma-lyase deficiency syndrome|cystathioninuria|cystathionase deficiency|cystathione gamma-lyase deficiency syndrome cystathioninuria (disease) UMLS:C3495552|GARD:0002428|DOID:0090142|UMLS:C0220993|Orphanet:212|NCIT:C129070|OMIM:219500|ICD10:E72.1|SCTID:13003007|HP:0003153|GARD:2428|UMLS:C0268616 owl:Class HGNC:2501 biolink:NamedThing CTH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6407 biolink:NamedThing KRAS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051955 biolink:NamedThing regulation of amino acid transport Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002483 biolink:NamedThing hair follicle melanocyte A melanocyte that produces pigment within the hair follicle. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-12-03T03:17:09Z cell owl:Class UBERON:0000305 biolink:NamedThing amnion the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected tmpak2llvmy_mondo_relaxed.owl amnios owl:Class UBERON:0005971 biolink:NamedThing amniotic fold A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. tmpak2llvmy_mondo_relaxed.owl amnionic fold owl:Class UBERON:0002026 biolink:NamedThing stratum spinosum of epidermis the layer of polyhedral cells in the epidermis found between the stratum granulosum and stratum basale; shrinkage and adhesion of these cells gives a spiny or prickly appearance tmpak2llvmy_mondo_relaxed.owl epidermis stratum spinosum|prickle cell layer of epidermis|stratum Malpighii|epidermis prickle cell layer|prickle cell layer|stratum spinosum|squamous cell layer of epidermis|Malpighian layer owl:Class UBERON:0002069 biolink:NamedThing stratum granulosum of epidermis the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis tmpak2llvmy_mondo_relaxed.owl epidermis stratum granulosum|stratum granulosum|granular layer of epidermis|epidermis granular layer owl:Class MONDO:0024557 biolink:NamedThing ataxia-telangiectasia-like disorder 1 Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene. tmpak2llvmy_mondo_relaxed.owl MRE11 ataxia-telangiectasia-like disorder|MRE11 ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder 1|ataxia-telangiectasia-like disorder caused by mutation in MRE11|Atld|ataxia - telangiectasia-like disorder caused by mutation in MRE11|ATLD1 Orphanet:251347|OMIM:604391|NCIT:C132224|UMLS:C1858391 owl:Class HGNC:7230 biolink:NamedThing MRE11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012085 biolink:NamedThing primary ciliary dyskinesia 3 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 3|DNAH5 primary ciliary dyskinesia|ciliary dyskinesia, primary, 3, with or without situs inversus|primary ciliary dyskinesia 3 with or without situs inversus|CILD3|ciliary dyskinesia, primary, 3|primary ciliary dyskinesia caused by mutation in DNAH5|ciliary dyskinesia, primary, type 3|primary ciliary dyskinesia 3 DOID:0110599|MESH:C535278|ICD10:Q34.8|OMIM:608644|UMLS:C1837618 owl:Class MONDO:0013712 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 5 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. tmpak2llvmy_mondo_relaxed.owl surfactant metabolism dysfunction, pulmonary, type 5|Csf2Rb deficiency|surfactant metabolism dysfunction, pulmonary, 5|CSF2RB hereditary pulmonary alveolar proteinosis|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|SMDP5|pulmonary alveolar proteinosis 5|Pap due to Csf2Rb deficiency OMIM:614370|UMLS:C3280574 owl:Class HGNC:2436 biolink:NamedThing CSF2RB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001779 biolink:NamedThing iris stroma The delicate vascular connective tissue that lies between the anterior surface of the iris and the pars iridica retinae. tmpak2llvmy_mondo_relaxed.owl stroma of iris|iridial stroma owl:Class GO:0002182 biolink:NamedThing cytoplasmic translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002181 biolink:NamedThing cytoplasmic translation The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009872 biolink:NamedThing Bjornstad syndrome Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. tmpak2llvmy_mondo_relaxed.owl deafness and pili torti, Bjornstad type|PTD|BJörnstad syndrome|deafness-pili torti-hypogonadism syndrome|PTND|BJS|pili torti-sensorineural hearing loss|Bjornstad syndrome|pili torti and nerve deafness GARD:0000022|OMIM:262000|DOID:0050677|MESH:C537633|EFO:0002779|UMLS:C0266006|Orphanet:123 https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome owl:Class HGNC:1020 biolink:NamedThing BCS1L tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001944 biolink:NamedThing Dehydration tmpak2llvmy_mondo_relaxed.owl Dehydration|Exsiccosis MSH:D003681|UMLS:C0011175|SNOMEDCT_US:34095006 human_phenotype owl:Class SO:0000055 biolink:NamedThing hyperploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as extra chromosomes are present. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004561 biolink:NamedThing alpha-N-acetylglucosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. tmpak2llvmy_mondo_relaxed.owl N-acetyl-alpha-D-glucosaminidase activity|alpha-acetylglucosaminidase activity|alpha-D-2-acetamido-2-deoxyglucosidase activity|NAG activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|N-acetyl-alpha-glucosaminidase activity owl:Class GO:0035441 biolink:NamedThing cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006240 biolink:NamedThing future forebrain A presumptive structure that has the potential to develop into a forebrain. tmpak2llvmy_mondo_relaxed.owl future prosencephalon|prosencephalon|presumptive prosencephalon|presumptive forebrain owl:Class MONDO:0005737 biolink:NamedThing Ebola hemorrhagic fever A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. tmpak2llvmy_mondo_relaxed.owl Ebolavirus caused disease or disorder|Ebola virus disease|EHF|Ebola fever|Ebola|Ebolavirus disease or disorder|Ebolavirus infectious disease UMLS:C0282687|Orphanet:319218|DOID:4325|EFO:0007243|ICD10:A98.4|NCIT:C36171|GARD:0002035|MedDRA:10014071|MESH:D019142|SCTID:37109004 owl:Class NCBITaxon:565995 biolink:NamedThing Bundibugyo ebolavirus tmpak2llvmy_mondo_relaxed.owl Bundibugyo virus|BDBV|Ebolavirus bundibugyo GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr19p13.3 biolink:NamedThing chr19p13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 6900000 0 hg38 owl:Class OBO:CHR_9606-chr19p13 biolink:NamedThing chr19p13 (Human) tmpak2llvmy_mondo_relaxed.owl 19900000 0 hg38 owl:Class OBO:CHR_9606-chr9p biolink:NamedThing chr9p (Human) tmpak2llvmy_mondo_relaxed.owl 43000000 0 hg38 owl:Class MONDO:0018994 biolink:NamedThing Charcot-Marie-Tooth disease type X A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. tmpak2llvmy_mondo_relaxed.owl COWCK|X-linked hereditary motor and sensory neuropathy|CMTX|X-linked Charcot-Marie-Tooth disease UMLS:CN205436|Orphanet:64747|ICD10:G60.0|SCTID:230552007|GARD:0012444|DOID:0050542|ICD9:356.9 owl:Class CHEBI:46661 biolink:NamedThing asbestos Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. tmpak2llvmy_mondo_relaxed.owl asbesto|asbestos|Asbest owl:Class UBERON:0004637 biolink:NamedThing otic capsule The capsule surrounding the inner ear mechanism. tmpak2llvmy_mondo_relaxed.owl otic region|periotic capsule|auditory capsule|otic capsule|otic capsule skeletal element|otic capsule endochondral element|periotic|otic capsule element owl:Class UBERON:0003110 biolink:NamedThing otic region tmpak2llvmy_mondo_relaxed.owl cranial vault owl:Class OBO:CHR_9606-chr18 biolink:NamedThing chr18 (Human) tmpak2llvmy_mondo_relaxed.owl 80373285 0 hg38 owl:Class UBERON:0010230 biolink:NamedThing eyeball of camera-type eye The core globe-shaped component of the camera-type eye. tmpak2llvmy_mondo_relaxed.owl eye globe|bulbus oculi|eyeball|globe|eye owl:Class OBO:CHR_9606-chr6 biolink:NamedThing chr6 (Human) tmpak2llvmy_mondo_relaxed.owl 170805979 0 hg38 owl:Class HP:0002227 biolink:NamedThing White eyelashes White color (lack of pigmentation) of the eyelashes. tmpak2llvmy_mondo_relaxed.owl White eyelashes|Grey eyelashes|Pale eyelashes|Depigmented eyelashes|Blonde eyelashes UMLS:C4280578|UMLS:C1836736 human_phenotype owl:Class UBERON:0035648 biolink:NamedThing nerve innervating pinna Any nerve that innervates the pinna. tmpak2llvmy_mondo_relaxed.owl auricular nerve owl:Class MONDO:0013767 biolink:NamedThing autoimmune lymphoproliferative syndrome type 4 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. tmpak2llvmy_mondo_relaxed.owl NRAS autoimmune lymphoproliferative syndrome|RAS-associated autoimmune leukoproliferative disease|autoimmune lymphoproliferative syndrome type 4|autoimmune lymphoproliferative syndrome caused by mutation in NRAS|ALPS type 4|RAS-associated autoimmune leukoproliferative disorder|ALPS type IV|ALPS4|autoimmune lymphoproliferative syndrome, type 4|RALD|autoimmune lymphoproliferative syndrome type IV SCTID:723508002|Orphanet:268114|UMLS:C2674723|DOID:0110117|ICD10:D72.8|OMIM:614470 owl:Class HGNC:7989 biolink:NamedThing NRAS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013002 biolink:NamedThing cone-rod dystrophy 9 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy 9|CORD9|ADAM9 cone-rod dystrophy|cone-rod dystrophy type 9|cone-rod dystrophy caused by mutation in ADAM9 DOID:0111020|OMIM:612775|UMLS:C1423873 owl:Class HGNC:216 biolink:NamedThing ADAM9 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000962 biolink:NamedThing nerve of cervical vertebra The cervical nerves are the spinal nerves from the cervical vertebrae. Although there are seven cervical vertebrae (C1-C7), there are eight cervical nerves (C1-C8). All nerves except C8 emerge above their corresponding vertebrae, while the C8 nerve emerges below the C7 vertebra. (In the other portions of the spine, the nerve emerges below the vertebra with the same name. Dorsal (posterior) distribution includes the greater occipital (C2) and third occipital (C3). Ventral (anterior) distribution includes the cervical plexus (C1-C4) and brachial plexus (C5-C8) [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl cervical nerve tree|cervical spinal nerve|nervus cervicalis|cervical nerve owl:Class MONDO:0007788 biolink:NamedThing hypertriglyceridemia, familial An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary hypertriglyceridemia (disease)|hypertriglyceridemia, familial SCTID:34528009|OMIM:145750 owl:Class MONDO:0007982 biolink:NamedThing metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. tmpak2llvmy_mondo_relaxed.owl metaphyseal chondrodysplasia, murk Jansen type|Jansen's metaphyseal chondrodysplasia|Jansen metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, Jansen type|Jansen metaphyseal dysostosis|Jansen disease|metaphyseal chondrodysplasia murk Jansen type|murk Jansen type metaphyseal chondrodysplasia|Jansen type metaphyseal chondrodysplasia SCTID:24629003|OMIM:156400|GARD:0000079|Orphanet:33067|DOID:0080020|MESH:C537564|UMLS:C0265295|ICD10:Q78.5|NCIT:C131868 MONDO:0000842 owl:Class MONDO:0005768 biolink:NamedThing gastrointestinal tuberculosis Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. tmpak2llvmy_mondo_relaxed.owl tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands ICD9:014.86|UMLS:C0152717|ICD9:014.81|MESH:D014385|ICD9:014.80|UMLS:C0041312|EFO:0007280|DOID:404|SCTID:186225008 owl:Class MONDO:0001606 biolink:NamedThing central nervous system leukemia Leukemia infiltrating the central nervous system structures. tmpak2llvmy_mondo_relaxed.owl CNS leukemia|leukemia (disease) of central nervous system|leukemia of central nervous system|leukemia of the central nervous system|leukemia of the CNS|central nervous system leukemia|central nervous system leukemia (disease)|leukemia of CNS UMLS:C1332884|NCIT:C5440|DOID:12969 owl:Class CHEBI:17781 biolink:NamedThing lumichrome A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution. tmpak2llvmy_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione|Lumichrome|LUMICHROME|lumichrome|7,8-Dimethylalloxazine owl:Class UBERON:0007171 biolink:NamedThing border of scapula tmpak2llvmy_mondo_relaxed.owl scapular border owl:Class GO:0007269 biolink:NamedThing neurotransmitter secretion The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. tmpak2llvmy_mondo_relaxed.owl neurotransmitter release|neurotransmitter secretory pathway owl:Class MONDO:0013455 biolink:NamedThing hypertrophic cardiomyopathy 16 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy type 16|cardiomyopathy familial hypertrophic 16|CMH16|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy, familial hypertrophic, 16|cardiomyopathy, familial hypertrophic, type 16|MYOZ2 hypertrophic cardiomyopathy UMLS:C3151204|DOID:0110322|OMIM:613838 owl:Class HGNC:1330 biolink:NamedThing MYOZ2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032989 biolink:NamedThing cellular component morphogenesis The process in which cellular structures, including whole cells or cell parts, are generated and organized. tmpak2llvmy_mondo_relaxed.owl cellular structure morphogenesis owl:Class MONDO:0003353 biolink:NamedThing heart leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of heart|heart leiomyosarcoma|leiomyosarcoma of the heart|Cardiac leiomyosarcoma DOID:5261|UMLS:C1332848|NCIT:C5364 owl:Class GO:0032432 biolink:NamedThing actin filament bundle An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. tmpak2llvmy_mondo_relaxed.owl actin cable owl:Class GO:0015629 biolink:NamedThing actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016250 biolink:NamedThing N-sulfoglucosamine sulfohydrolase activity Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. tmpak2llvmy_mondo_relaxed.owl heparin sulfamidase activity|N-sulphoglucosamine sulphohydrolase activity|sulfoglucosamine sulfamidase activity|sulphamidase activity|2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase)|N-sulfo-D-glucosamine sulfohydrolase activity owl:Class HGNC:14677 biolink:NamedThing DEAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013700 biolink:NamedThing axial musculature Musculature of the head and neck, spine, and ribs. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030886 biolink:NamedThing negative regulation of myeloid dendritic cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. tmpak2llvmy_mondo_relaxed.owl down-regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation owl:Class UBERON:0002180 biolink:NamedThing ventral funiculus of spinal cord The white substance of the spinal cord lying on either side between the ventral median fissure and the ventral roots of the spinal nerves. tmpak2llvmy_mondo_relaxed.owl anterior white column of spinal cord|ventral funiculus of spinal cord|ventral white column of spinal cord|anterior funiculus of spinal cord|anterior funiculus|funiculus anterior medullae spinalis|ventral funiculi|ventral funiculus owl:Class MONDO:0012454 biolink:NamedThing alcohol sensitivity, acute Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. tmpak2llvmy_mondo_relaxed.owl alcohol intolerance|Hangover, susceptibility to|acute alcohol sensitivity|alcohol sensitivity, acute GARD:0012634|OMIM:610251 https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity owl:Class GO:0004029 biolink:NamedThing aldehyde dehydrogenase (NAD+) activity Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. tmpak2llvmy_mondo_relaxed.owl NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde dehydrogenase (NAD+)|NAD-aldehyde dehydrogenase activity|CoA-independent aldehyde dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|propionaldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|m-methylbenzaldehyde dehydrogenase activity|NAD-linked aldehyde dehydrogenase activity owl:Class ENVO:01001089 biolink:NamedThing aerosolised solids An aerosol which has non-gaseous parts that are primarily composed of solid particles. tmpak2llvmy_mondo_relaxed.owl solid aerosol owl:Class N7a8e5989bc434ca380f2ab2cca95e6ab biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CHEBI:16990 biolink:NamedThing bilirubin IXalpha A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin. tmpak2llvmy_mondo_relaxed.owl bilirubin|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin(Z,Z)|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|bilirubin-IXalpha|Bilirubin|8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid owl:Class CHEBI:22586 biolink:NamedThing antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. tmpak2llvmy_mondo_relaxed.owl antioxidants|antioxydant|antoxidant owl:Class CHEBI:23357 biolink:NamedThing cofactor An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). tmpak2llvmy_mondo_relaxed.owl cofactors|cofactor owl:Class MONDO:0014223 biolink:NamedThing amyotrophic lateral sclerosis type 19 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 19|ALS19|ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19 DOID:0060210|UMLS:C3715155|OMIM:615515 owl:Class HGNC:3432 biolink:NamedThing ERBB4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017874 biolink:NamedThing Argentine hemorrhagic fever Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. tmpak2llvmy_mondo_relaxed.owl Junin hemorrhagic fever|Argentinian hemorrhagic fever SCTID:58868000|Orphanet:319223|UMLS:C0019097|DOID:0050194|ICD10:A96.0 owl:Class HGNC:1677 biolink:NamedThing CD247 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006304 biolink:NamedThing future trigeminal ganglion tmpak2llvmy_mondo_relaxed.owl trigeminal V preganglion|trigeminal preganglion owl:Class UBERON:0001675 biolink:NamedThing trigeminal ganglion The cranial ganglion that is associated with and extends fibers into the trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl trigeminal ganglia|ganglion semilunare|trigeminal V ganglion|ganglion of trigeminal nerve|fused trigeminal ganglion|Gasser's ganglion|Gasserian ganglion|fifth ganglion|trigeminus ganglion|gV|ganglion of trigeminal complex|Gasserian ganglia|semilunar ganglion|5th ganglion|ganglion trigeminale owl:Class GO:0010985 biolink:NamedThing negative regulation of lipoprotein particle clearance Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034381 biolink:NamedThing plasma lipoprotein particle clearance The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpak2llvmy_mondo_relaxed.owl lipoprotein particle clearance owl:Class UBERON:0006946 biolink:NamedThing efferent duct The efferent ducts (or efferent ductules or ductuli efferentes) connect the rete testis with the initial section of the epididymis. The ductuli are unilaminar and composed of columnar ciliated and non-ciliated (absorptive) cells. The ciliated cells serve to stir the luminal fluids, possibly to help ensure homogeneous absorption of water from the fluid produced by the testis, which results in an increase in the concentration of luminal sperm. The epithelium is surrounded by a band of smooth muscle that helps to propel the sperm toward the epididymis. tmpak2llvmy_mondo_relaxed.owl vasa efferentia|ductuli efferentes testis|efferent ductule|seminal duct owl:Class UBERON:0006947 biolink:NamedThing male genital duct A duct or series of ducts that transports sperm from the gonad. In mammals this is from the seminiferous tubules through rete testis, vas efferentia, epididymis, vas deferens, ejeculatory duct to the urethra. tmpak2llvmy_mondo_relaxed.owl sperm duct|sperm ducts owl:Class UBERON:0006283 biolink:NamedThing future cardiac ventricle Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl primordial ventricle|presumptive cardiac ventricle heart tube|primitive ventricle of heart|embryonic heart ventricle|early heart ventricle|embryonic ventricle|primitive ventricle|future heart ventricle|primordial cardiac ventricle owl:Class ECTO:0000726 biolink:NamedThing exposure to allergen An exposure to allergen. tmpak2llvmy_mondo_relaxed.owl exposure to allergen owl:Class CHEBI:50904 biolink:NamedThing allergen A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. tmpak2llvmy_mondo_relaxed.owl allergenic agent|alergeno|allergene owl:Class UBERON:0003254 biolink:NamedThing amniotic ectoderm tmpak2llvmy_mondo_relaxed.owl amnionic ectoderm|amnion ectoderm|amnion epithelium owl:Class MONDO:0019867 biolink:NamedThing mosaic trisomy 8 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 8|Warkany syndrome|Mosaic trisomy type 8|trisomy 8 mosaicism SCTID:717335009|Orphanet:96061|GARD:0005359|ICD10:Q92.1|MedDRA:10053916|MESH:C537940 https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 owl:Class OBO:CHR_9606-chr8 biolink:NamedThing chr8 (Human) tmpak2llvmy_mondo_relaxed.owl 145138636 0 hg38 owl:Class UBERON:0009097 biolink:NamedThing gravid organism An organism containing a developing embryo, fetus, or unborn offspring within the body. tmpak2llvmy_mondo_relaxed.owl pregnant adult stage|pregnant organism|gravid|pregnant adult|pregnant stage owl:Class MONDO:0009006 biolink:NamedThing complement component 2 deficiency Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. tmpak2llvmy_mondo_relaxed.owl C2D|complement component 2 deficiency|C2 complement deficiency|C2 deficiency|complement deficiency caused by mutation in C2 GARD:0001452|DOID:0060295|ICD10:D84.1|NCIT:C119992|UMLS:C3150275|OMIM:217000 https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency owl:Class HGNC:1248 biolink:NamedThing C2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090087 biolink:NamedThing regulation of peptide transport Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015833 biolink:NamedThing peptide transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000740 biolink:NamedThing adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. tmpak2llvmy_mondo_relaxed.owl adenoidal hypertrophy|enlarged adenoids UMLS:C0149825|SCTID:111591002|ICD10:J35.2|DOID:0060311|ICD9:474.12|MedDRA:10001229 owl:Class UBERON:0001734 biolink:NamedThing palatine uvula Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. tmpak2llvmy_mondo_relaxed.owl uvula palatina|palatine uvula|uvula|uvula of palate owl:Class CHEBI:17295 biolink:NamedThing L-phenylalanine The L-enantiomer of phenylalanine. tmpak2llvmy_mondo_relaxed.owl PHENYLALANINE|(S)-alpha-Amino-beta-phenylpropionic acid|(2S)-2-amino-3-phenylpropanoic acid|3-phenyl-L-alanine|Phe|L-phenylalanine|(S)-2-Amino-3-phenylpropionic acid|F|beta-phenyl-L-alanine|L-Phenylalanine owl:Class CHEBI:32486 biolink:NamedThing L-phenylalaninate An optically active form of phenylalaninate having L-configuration. tmpak2llvmy_mondo_relaxed.owl L-phenylalaninate|L-phenylalanine anion|(2S)-2-amino-3-phenylpropanoate owl:Class CL:0001023 biolink:NamedThing Kit-positive, CD34-positive common myeloid progenitor A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low. tmpak2llvmy_mondo_relaxed.owl CD117-positive common myeloid precursor Markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000034)(PMID:19243617). cell owl:Class CL:0002035 biolink:NamedThing Slamf1-negative multipotent progenitor cell A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:33Z cell owl:Class UBERON:0010580 biolink:NamedThing pedal digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 1 phalanx pre-cartilage condensation|pedal digit I phalanx pre-cartilage condensation|hind limb digit 1 phalanx pre-cartilage condensation owl:Class MONDO:0014966 biolink:NamedThing periventricular nodular heterotopia 7 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. tmpak2llvmy_mondo_relaxed.owl periventricular nodular heterotopia 7|periventricular nodular heterotopia type 7|NEDD4L periventricular nodular heterotopia|PVNH7|periventricular nodular heterotopia caused by mutation in NEDD4L|periventricular nodular heterotopia 7; PVNH7 OMIM:617201|UMLS:C4310669 owl:Class HGNC:7728 biolink:NamedThing NEDD4L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011648 biolink:NamedThing radiation-induced meningioma tmpak2llvmy_mondo_relaxed.owl Mnri|meningioma, radiation-induced|radiation induced meningioma MESH:C536266|GARD:0008491|UMLS:C1853554|OMIM:606190 https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma owl:Class GO:0048770 biolink:NamedThing pigment granule A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044213 biolink:NamedThing acute idiopathic urticaria Acute form of idiopathic urticaria. tmpak2llvmy_mondo_relaxed.owl idiopathic urticaria, acute|acute idiopathic urticaria SCTID:302161006|UMLS:C0578869 owl:Class MONDO:0012871 biolink:NamedThing Jervell and Lange-Nielsen syndrome 2 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpak2llvmy_mondo_relaxed.owl Jervell and Lange-Nielsen syndrome type 2|Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|KCNE1 Jervell and Lange-Nielsen syndrome|JLNS2 MESH:C567343|OMIM:612347|GARD:0010364 https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 owl:Class HGNC:6240 biolink:NamedThing KCNE1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006222 biolink:NamedThing future diencephalon The foremost region of the future forebrain that develops into the diencephalon. tmpak2llvmy_mondo_relaxed.owl presumptive diencephalon owl:Class MONDO:0004622 biolink:NamedThing chronic intestinal vascular insufficiency tmpak2llvmy_mondo_relaxed.owl chronic mesenteric ischemia|CMI - chronic mesenteric ischaemia DOID:8633|SCTID:111354009|ICD9:557.1|UMLS:C0311262 owl:Class UBERON:0002527 biolink:NamedThing pancreatic lymph node A lymph node that is part of a pancreas [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl aJCC level 19 node|pyloric lymph node|lymph node of pancreas|pancreatic node|pancreas lymph node owl:Class MONDO:0013215 biolink:NamedThing autosomal recessive nonsyndromic deafness 79 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 79|DFNB79|deafness, autosomal recessive type 79|autosomal recessive deafness 79|autosomal recessive nonsyndromic deafness caused by mutation in TPRN|deafness, autosomal recessive 79|autosomal recessive nonsyndromic deafness 79|TPRN autosomal recessive nonsyndromic deafness OMIM:613307|UMLS:C2750082|ICD10:H90.3|MESH:C567651|DOID:0110526 owl:Class HGNC:26894 biolink:NamedThing TPRN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012615 biolink:NamedThing umbilical smooth muscle A smooth muscle tissue that is part of a umbilical cord. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013284 biolink:NamedThing immunodeficiency, common variable, 4 tmpak2llvmy_mondo_relaxed.owl immunodeficiency, common variable, type 4|antibody deficiency due to Baffr defect|immunodeficiency, common variable, 4|CVID4 OMIM:613494|UMLS:C3150739 owl:Class HGNC:17755 biolink:NamedThing TNFRSF13C tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003540 biolink:NamedThing right lung terminal bronchiole A terminal bronchiole that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl terminal bronchiole of right lung|bronchiolus terminalis of right lung|right lung bronchiolus terminalis owl:Class UBERON:0002167 biolink:NamedThing right lung Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10407 biolink:NamedThing Hepatitis B virus tmpak2llvmy_mondo_relaxed.owl HBV|human hepatitis B virus HBV|hepatitis B virus HBV|hepatitis B virus, HBV|Human hepatitis B virus|hepatitis B virus (HBV) GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004423 biolink:NamedThing central nervous system extraskeletal osteosarcoma An osteosarcoma arising from the brain or spinal cord. tmpak2llvmy_mondo_relaxed.owl central nervous system osteosarcoma (disease)|central nervous system extraskeletal osteosarcoma|osteosarcoma of central nervous system|osteosarcoma of the central nervous system|central nervous system osteosarcoma DOID:7994|NCIT:C7002|UMLS:C1335150 owl:Class MONDO:0024526 biolink:NamedThing Zimmermann-Laband syndrome 1 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene. tmpak2llvmy_mondo_relaxed.owl fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|ZLS1|Laband syndrome|KCNH1 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome caused by mutation in KCNH1|Zimmermann-Laband syndrome 1 UMLS:CN032818|OMIM:135500 owl:Class HGNC:6250 biolink:NamedThing KCNH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018484 biolink:NamedThing semicircular canal dehiscence syndrome Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. tmpak2llvmy_mondo_relaxed.owl third mobile window syndrome|superior canal syndrome|superior semicircular canal dehiscence|canal dehiscence syndrome|Minor's syndrome|superior semicircular canal dehiscence syndrome|Minorbs syndrome|superior canal dehiscence|SCD syndrome GARD:0010993|ICD10:H83.8|Orphanet:420402|SCTID:717799003|DOID:0080193 owl:Class HP:0009473 biolink:NamedThing Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. tmpak2llvmy_mondo_relaxed.owl Contractures of the hands|Contractures involving the hands UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821 doelkens 2009-01-15T09:59:59Z HP:0005814|HP:0006255|HP:0009472|HP:0001160|HP:0010563|HP:0006238|HP:0004094|HP:0006173|HP:0006215|HP:0006096|HP:0009409|HP:0001237 human_phenotype owl:Class UBERON:0034972 biolink:NamedThing jugular body A nonchromaffin paraganglion located in the wall of the jugular bulb. tmpak2llvmy_mondo_relaxed.owl tympanic body|glomus tympanicum|jugulotympanic body|glomus jugulare owl:Class HGNC:4847 biolink:NamedThing HCRT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018111 biolink:NamedThing muscle layer of rectum A muscle layer that is part of the rectum tmpak2llvmy_mondo_relaxed.owl tunica muscularis recti|tunica muscularis (rectum)|muscularis externa of rectum|rectal muscularis propria|muscular coat of rectum owl:Class UBERON:0001074 biolink:NamedThing pericardial cavity A potential space between the visceral and parietal layers of the pericardium. tmpak2llvmy_mondo_relaxed.owl cavity of pericardial sac|cavitas pericardiaca|pericardial space owl:Class UBERON:0002357 biolink:NamedThing serous pericardium Serous membrane which is divided into parietal and visceral serous pericardium. tmpak2llvmy_mondo_relaxed.owl serous portion of pericardium|pericardium serosum owl:Class NCBITaxon:11628 biolink:NamedThing Machupo mammarenavirus tmpak2llvmy_mondo_relaxed.owl Machupo virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011171 biolink:NamedThing joint connecting upper and lower jaws Synovial joint that articulates bones of upper and lower jaw. tmpak2llvmy_mondo_relaxed.owl jaw joint|craniomandibular joint owl:Class UBERON:0003277 biolink:NamedThing skeleton of upper jaw A subdivision of the skeleton that corresponds to the upper part of the mouth. The lower jaw skeleton includes the following elements, when present: upper jaw teeth, the maxilla and other lower jaw bones. tmpak2llvmy_mondo_relaxed.owl upper jaw skeleton|upper jaw owl:Class UBERON:0003563 biolink:NamedThing telencephalon dura mater A dura mater that is part of a telencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dura mater of telencephalon|dura mater of neuraxis of telencephalon|telencephalon dura mater of neuraxis owl:Class GO:0006163 biolink:NamedThing purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl purine metabolism|purine nucleotide metabolism|purine metabolic process owl:Class MONDO:0009287 biolink:NamedThing glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. tmpak2llvmy_mondo_relaxed.owl glycogen storage disease type 1a|glycogen storage disease 1|glycogenosis due to glucose-6-phosphatase deficiency type 1a|GSD due to G6P deficiency type Ia|glucose-6-phosphatase deficiency|glycogenosis due to glucose-6-phosphatase deficiency type Ia|glycogen storage disease type Ia|glycogen storage disease caused by mutation in G6PC|GSD type 1a|glycogenosis type Ia|GSD1A|glycogen storage disease Ia|glycogen storage disease 1A|GSD1|G6P deficiency type 1a|GSDIa|G6PC glycogen storage disease|hepatorenal glycogenosis|hepatorenal form of glycogen storage disease|Von Gierke disease|glycogen storage disease due to G6P deficiency type Ia|glucose-6-phosphatase deficiency glycogen storage disease|GSD due to G6P deficiency type 1a|GSD Ia UMLS:CN205860|GARD:0007864|OMIM:232200|Orphanet:79258|SCTID:444707001|UMLS:C2919796|ICD10:E74.0|UMLS:CN069618|MESH:C538655 owl:Class MONDO:0015777 biolink:NamedThing adult hypothyroidism A hypothyroidism that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl rare adult hypothyroidism Orphanet:177101|UMLS:CN226738 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0001190 biolink:NamedThing Brucella suis brucellosis An disease or disorder caused by infection with Brucella suis. tmpak2llvmy_mondo_relaxed.owl Brucella suis caused disease or disorder|Brucella suis disease or disorder|Brucella suis infectious disease DOID:11076 owl:Class NCBITaxon:29461 biolink:NamedThing Brucella suis tmpak2llvmy_mondo_relaxed.owl Brucella melitensis bv. Suis|Brucella melitensis biovar Suis GC_ID:11 ncbi_taxonomy owl:Class UBERON:0001456 biolink:NamedThing face A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). tmpak2llvmy_mondo_relaxed.owl visage|facia/facies owl:Class HGNC:14198 biolink:NamedThing ELAC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001245 biolink:NamedThing anus Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. tmpak2llvmy_mondo_relaxed.owl proctodeum|anal opening|anal orifice|opening of terminal part of digestive tract owl:Class MONDO:0100444 biolink:NamedThing RLBP1 retinopathy A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina. tmpak2llvmy_mondo_relaxed.owl Newfoundland ROD-cone dystrophy|pigmentary retinal dystrophy|Newfoundland rod-cone dystrophy|cone-rod dystrophy caused by mutation in RLBP1|NFRCD|retinitis punctata albescens|RLBP1 retinopathy|Vasterbotten dystrophy|RLBP1 cone-rod dystrophy|Bothnia retinal dystrophy|Västerbotten dystrophy|fundus albipunctatus owl:Class HGNC:10024 biolink:NamedThing RLBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004928 biolink:NamedThing lymph node disease Any disorder of the lymph nodes. tmpak2llvmy_mondo_relaxed.owl disorder of lymph node|lymph node disease|disease of lymph node|lymph node disorder|lymph node disease or disorder|disease or disorder of lymph node DOID:9942|SCTID:76616003|NCIT:C35346|UMLS:C0272394 owl:Class GO:0009059 biolink:NamedThing macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl macromolecule anabolism|macromolecule synthesis|macromolecule formation|biopolymer biosynthetic process|macromolecule biosynthesis owl:Class GO:1905516 biolink:NamedThing positive regulation of fertilization Any process that activates or increases the frequency, rate or extent of fertilization. tmpak2llvmy_mondo_relaxed.owl activation of syngamy|upregulation of syngamy|activation of fertilization|up-regulation of fertilization|up regulation of fertilization|positive regulation of syngamy|upregulation of fertilization|up regulation of syngamy|up-regulation of syngamy owl:Class UBERON:0002114 biolink:NamedThing duodenum The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). tmpak2llvmy_mondo_relaxed.owl proximal intestine|upper intestine owl:Class UBERON:0035820 biolink:NamedThing peritoneal sac A serous sac that is the aggregate of the peritoneum and the peritoneal cavity, located in the abdominal cavity. tmpak2llvmy_mondo_relaxed.owl peritoneal component owl:Class UBERON:0003684 biolink:NamedThing abdominal cavity The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). tmpak2llvmy_mondo_relaxed.owl space of abdominal compartment|cavitas abdominis|cavity of compartment of abdomen|cavity of abdominal compartment owl:Class CHEBI:75772 biolink:NamedThing Saccharomyces cerevisiae metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). tmpak2llvmy_mondo_relaxed.owl Saccharomyces cerevisiae metabolites|Saccharomyces cerevisiae secondary metabolites|S. cerevisiae secondary metabolite|S. cerevisiae secondary metabolites|S. cerevisiae metabolite|S. cerevisiae metabolites|baker's yeast metabolites|baker's yeast secondary metabolites|baker's yeast secondary metabolite|baker's yeast metabolite owl:Class UBERON:0008859 biolink:NamedThing cardiac gastric gland A gastric gland in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it[MP] tmpak2llvmy_mondo_relaxed.owl glandula cardiaca (gaster)|cardiac gland|gardiac gland|gastric cardiac mucuous gland|gastric gland of cardia|gastric cardiac gland owl:Class CL:0000317 biolink:NamedThing sebum secreting cell A cell secreting sebun, an oily substance secreted by sebaceous glands, composed of keratin, fat, and cellular debris. tmpak2llvmy_mondo_relaxed.owl sebocyte cell owl:Class MONDO:0013912 biolink:NamedThing hypogonadotropic hypogonadism 10 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. tmpak2llvmy_mondo_relaxed.owl HH10|hypogonadotropic hypogonadism caused by mutation in TAC3|TAC3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 10 with or without anosmia DOID:0090089|UMLS:C3553843|ICD10:E23.0|OMIM:614839 owl:Class UBERON:0010426 biolink:NamedThing oropharyngeal choana opening/conduit between the nasal cavity and the oropharynx via the roof of the mouth. tmpak2llvmy_mondo_relaxed.owl apertura nasalis interna|oropharyngeal naris|choana of oropharynx|palatal cleft|cleft palate|palatal choana owl:Class UBERON:0001716 biolink:NamedThing secondary palate The part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences. tmpak2llvmy_mondo_relaxed.owl oral roof|palatum|roof of mouth|palate|definitive palate|palatum secundarium|palatum definitivum owl:Class UBERON:0002196 biolink:NamedThing adenohypophysis The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. tmpak2llvmy_mondo_relaxed.owl anterior lobe of the pituitary|lobus anterior|rostral lobe|anterior hypophysis|anterior lobe of pituitary|AHP|anterior lobe (hypophysis)|lobus anterior (glandula pituitaria)|pituitary gland, anterior lobe|pituitary glandanterior lobe|anterior lobe of pituitary gland|cranial lobe|anterior lobe of hypophysis|anterior pituitary|lobus anterior hypophysis|pituitary anterior lobe|anterior pituitary gland owl:Class CL:0002312 biolink:NamedThing somatotroph An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. tmpak2llvmy_mondo_relaxed.owl somatotropic cell|somatotrope|somatrophic cell FMA:83095 tmeehan 2010-09-14T02:33:09Z cell owl:Class MONDO:0013407 biolink:NamedThing retinitis pigmentosa 47 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 47|RP47|SAG retinitis pigmentosa|retinitis pigmentosa 47|retinitis pigmentosa caused by mutation in SAG ICD10:H35.5|OMIM:613758|DOID:0110369|UMLS:C3151061 owl:Class HGNC:10521 biolink:NamedThing SAG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001076 biolink:NamedThing neural spine A extension of a neural arches dorsal to the neural canal[TAO,modified]. tmpak2llvmy_mondo_relaxed.owl processus spinosus vertebrae|spinous process of vertebra|spinous process|spine of verterba|processus spinosus|neural spines|neural spine|vertebra spinous process owl:Class MONDO:0013610 biolink:NamedThing retinitis pigmentosa 61 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene. tmpak2llvmy_mondo_relaxed.owl RP61|retinitis pigmentosa caused by mutation in CLRN1|retinitis pigmentosa 61|CLRN1 retinitis pigmentosa|retinitis pigmentosa type 61 OMIM:614180|DOID:0110373|ICD10:H35.5|UMLS:C3280041 owl:Class HGNC:12605 biolink:NamedThing CLRN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013091 biolink:NamedThing glycogen storage disease IXc A liver PhK deficiency caused by variants in the PHKG2 gene tmpak2llvmy_mondo_relaxed.owl GSD type 9C|glycogen storage disease caused by mutation in PHKG2|GSD IXc|glycogen storage disease type IXc|PHKG2 glycogen storage disease|GSD type IXc|GSD9C|PHKG2-related glycogen storage disease type IX|glycogen storage disease IXc UMLS:C2751643|MESH:C567809|OMIM:613027|DOID:0111043 owl:Class HGNC:8931 biolink:NamedThing PHKG2 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001683 biolink:NamedThing gaseous surface layer A fluid surface layer which is composed primarily of some gaseous material. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022936 biolink:NamedThing de Hauwere Leroy adriaenssens syndrome tmpak2llvmy_mondo_relaxed.owl iris dysplasia, orbital hypertelorism, and psychomotor retardation MESH:C535991|UMLS:C2931078 owl:Class UBERON:0005110 biolink:NamedThing metanephric nephron A metanephric nephron is the functional unit of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class N17b2a51915224dfea702ab86fad785a9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0009098 biolink:NamedThing gravid uterus The uterus in pregnancy tmpak2llvmy_mondo_relaxed.owl womb owl:Class GO:0007565 biolink:NamedThing female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. tmpak2llvmy_mondo_relaxed.owl carrying of young|gestation owl:Class UBERON:0000124 biolink:NamedThing epineurium A loose connective tissue sheath surrounding each peripheral nerve. Composed mainly of colagen and fibroblasts, it forms a substantial covering over nerve trunks, then thins to an incomplete layer around smaller branches near their terminations. The epineurium is continuous centrally with the dura. Peripherally, it usually ends near the termination of a nerve fiber, but it may continue as the capsule of Meissner corpuscles and a few other encapsulated endings. Nolte, J. The Human Brain 3rd edition tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000164 biolink:NamedThing primitive urogenital sinus the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females tmpak2llvmy_mondo_relaxed.owl UGS|fetal UGS|urogenital sinus|sinus urogenitalis owl:Class UBERON:0005792 biolink:NamedThing nephric ridge Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. tmpak2llvmy_mondo_relaxed.owl nephric cord owl:Class UBERON:0002090 biolink:NamedThing postcranial axial skeleton The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. tmpak2llvmy_mondo_relaxed.owl post-cranial axial skeleton|axial skeleton owl:Class UBERON:0010540 biolink:NamedThing tarsus pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tarsal bone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021532 biolink:NamedThing fibroma of prostate A fibroma that involves the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostate fibroma|prostate gland fibroma|fibroma of the prostate UMLS:C0268885|SCTID:47014000|NCIT:C3972|ICD9:600.20 owl:Class HsapDv:0000118 biolink:NamedThing 24-year-old human stage Young adult stage that refers to an adult who is over 24 and under 25. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000089 biolink:NamedThing young adult stage Early adulthood that refers to an adult who is under 25. tmpak2llvmy_mondo_relaxed.owl 19-24 years owl:Class MONDO:0020103 biolink:NamedThing constitutional hemolytic anemia due to acanthocytosis tmpak2llvmy_mondo_relaxed.owl constitutional hemolytic anemia due to acanthocytic disorder 2022-03-01 Orphanet:98366|ICD10:E78.6 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0100352 biolink:NamedThing episodic kinesigenic dyskinesia 1 tmpak2llvmy_mondo_relaxed.owl episodic kinesigenic dyskinesia caused by mutation in PRRT2|paroxysmal kinesigenic choreoathetosis|PxMD-PRRT2|EKD1|DYT-PRRT2|paroxysmal kinesigenic dyskinesia|episodic kinesigenic dyskinesia 1|episodic kinesigenic dyskinesia type 1|dystonia 10|PRRT2 episodic kinesigenic dyskinesia|dystonia, familial paroxysmal MESH:C537180|DOID:0090053|GARD:0008721|ICD10:G24.8|OMIM:128200|ICD9:333.5|SCTID:609221008 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:30500 biolink:NamedThing PRRT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005505 biolink:NamedThing dysembryoplastic neuroepithelial tumor A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B tmpak2llvmy_mondo_relaxed.owl dysembryoplastic neuroepithelial neoplasm|DNET|DNT|dysembryoplastic neuroepithelial tumor (morphologic abnormality) Orphanet:251946|UMLS:C1266177|ONCOTREE:DNT|DOID:2679|EFO:0005551|NCIT:C9505|SCTID:87211000119104|ICDO:9413/0|GARD:0010640 https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor owl:Class MONDO:0013591 biolink:NamedThing epiphyseal dysplasia, multiple, 6 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene. tmpak2llvmy_mondo_relaxed.owl EDM6|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|epiphyseal dysplasia, multiple, 6|multiple epiphyseal dysplasia 6|epiphyseal dysplasia, multiple, type 6|COL9A1 multiple epiphyseal dysplasia (disease) DOID:0070301|OMIM:614135|UMLS:C2675767|GARD:0013376 https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6 owl:Class HGNC:2217 biolink:NamedThing COL9A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000892 biolink:NamedThing colon medullary carcinoma A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl medullary carcinoma of the colon|medullary colon carcinoma|colon medullary carcinoma NCIT:C60641|ONCOTREE:CMC|UMLS:C1880119|DOID:0080183 owl:Class MONDO:0021221 biolink:NamedThing vestibulocochlear nerve neoplasm A neoplasm (disease) that involves the vestibulocochlear nerve. tmpak2llvmy_mondo_relaxed.owl acoustic nerve tumor|vestibulocochlear nerve neoplasms|tumor of the eighth cranial nerve|eighth cranial nerve neoplasm|eighth cranial nerve neoplasms|neoplasm of acoustic nerve|tumor of acoustic nerve|tumor of the vestibulocochlear nerve|tumor of vestibulocochlear nerve|tumor of the acoustic nerve|neoplasm of the eighth cranial nerve|acoustic nerve neoplasm|eighth cranial nerve tumor|vestibulocochlear nerve tumor|neoplasm of the vestibulocochlear nerve|cranial nerve eight neoplasms|neoplasm of the acoustic nerve|neoplasm of eighth cranial nerve|Vestibuloacoustic nerve neoplasms|neoplasm of vestibulocochlear nerve|tumor of eighth cranial nerve|vestibulocochlear nerve neoplasm (disease) NCIT:C5120|SCTID:387891008|UMLS:C0346330 owl:Class UBERON:0002270 biolink:NamedThing hyaloid artery An artery that is part of the optic stalk of the eye and extends from the optic disc through the vitreous humor to the lens. tmpak2llvmy_mondo_relaxed.owl Cloquet's canal|Cloquets canal|central artery of retina|arteria hyaloidea|hyaloid arteries owl:Class UBERON:0000923 biolink:NamedThing germ layer A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. tmpak2llvmy_mondo_relaxed.owl embryonic germ layers|primary germ layer|embryonic germ layer|germinal layer|embryonic tissue owl:Class MONDO:0007841 biolink:NamedThing coxopodopatellar syndrome Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. tmpak2llvmy_mondo_relaxed.owl ICPPS|Coxo-podo-patellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis|SPS|patella aplasia, coxa vara, tarsal synostosis|coxopodopatellar syndrome|ischiopatellar dysplasia|small patella syndrome|ischiocoxopodopatellar syndrome|Scott-Taor syndrome SCTID:720752007|UMLS:C1840061|GARD:0003030|DOID:0111382|ICD10:Q74.1|MESH:C535540|Orphanet:1509|OMIM:147891 owl:Class HGNC:11603 biolink:NamedThing TBX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012602 biolink:NamedThing autosomal recessive nonsyndromic deafness 24 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 24|autosomal recessive nonsyndromic deafness type 24|deafness, autosomal recessive type 24|autosomal recessive nonsyndromic deafness 24|autosomal recessive nonsyndromic deafness caused by mutation in RDX|DFNB24|autosomal recessive deafness 24|RDX autosomal recessive nonsyndromic deafness MESH:C567027|DOID:0110482|UMLS:C1970239|ICD10:H90.3|OMIM:611022 owl:Class HGNC:9944 biolink:NamedThing RDX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019249 biolink:NamedThing mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. tmpak2llvmy_mondo_relaxed.owl MPS|mucopolysaccharidosis|mucopolysaccharidoses UMLS:C0026703|ICD9:277.5|ICD10:E76.2|SCTID:11380006|NCIT:C61259|Orphanet:79213|GARD:0007065|DOID:12798|MESH:D009083|ICD10:E76.1|ICD10:E76.0|MedDRA:10028093|ICD10:E76.3|OMIMPS:607014 https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis owl:Class GO:1903510 biolink:NamedThing mucopolysaccharide metabolic process The chemical reactions and pathways involving mucopolysaccharide. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharide metabolism owl:Class GO:0051037 biolink:NamedThing regulation of transcription involved in meiotic cell cycle Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl meiotic regulation of transcription|regulation of transcription, meiotic owl:Class GO:0051321 biolink:NamedThing meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. tmpak2llvmy_mondo_relaxed.owl meiosis owl:Class UBERON:0011648 biolink:NamedThing jaw muscle tmpak2llvmy_mondo_relaxed.owl mandibular muscle|mandibular muscles owl:Class MONDO:0013762 biolink:NamedThing lipoic acid synthetase deficiency Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl hyperglycinemia, lactic acidosis, and seizures|pyruvate dehydrogenase lipoic acid synthetase deficiency|PDHLD|HGCLAS Orphanet:401859|GARD:0012678|UMLS:C3280887|OMIM:614462|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency owl:Class HGNC:16429 biolink:NamedThing LIAS tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:13941 biolink:NamedThing carbamate tmpak2llvmy_mondo_relaxed.owl Carbamat|carbamate|carbamic acid, ion(1-)|carbamate ion|Karbamat owl:Class MONDO:0002102 biolink:NamedThing cheilitis An inflammatory process affecting the lip. tmpak2llvmy_mondo_relaxed.owl lip inflammation|inflammation of lip MESH:D002613|NCIT:C79545|ICD10:K13.0|DOID:1762|UMLS:C0007971|SCTID:7847004|HP:0100825 owl:Class UBERON:0013067 biolink:NamedThing colorectal mucosa A mucosa that is part of a colorectum. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012652 biolink:NamedThing colorectum The subdivision of the digestive tract that consists of the colon and the rectum. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003061 biolink:NamedThing blood island Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. tmpak2llvmy_mondo_relaxed.owl VBI|ventral blood island|posterior ICM|ventral lateral plate mesoderm|posterior blood island|caudal hematopoietic tissue|blood islands owl:Class MONDO:0008277 biolink:NamedThing stomach polyp A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). tmpak2llvmy_mondo_relaxed.owl polyps of stomach|gastric polyposa|polyps of the stomach|gastric polyposis|gastric polyp SCTID:87252009|MESH:C562464|NCIT:C3954 Editor note: consider splitting polyposis from polyp owl:Class UBERON:0009914 biolink:NamedThing renal lobule The portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys tmpak2llvmy_mondo_relaxed.owl renal cortical lobule|cortical lobule|kidney lobule|lobuli corticales renis|lobulus renalis|reniculus|renculus|lobulus corticalis renalis|cortical lobule of kidney|renunculus owl:Class CHEBI:32487 biolink:NamedThing L-phenylalaninium An optically active form of phenylalaninium having L-configuration. tmpak2llvmy_mondo_relaxed.owl L-phenylalaninium|(1S)-1-carboxy-2-phenylethanaminium|L-phenylalanine cation owl:Class CHEBI:32495 biolink:NamedThing D-phenylalaninium An optically active form of phenylalaninium having D-configuration. tmpak2llvmy_mondo_relaxed.owl D-phenylalanine cation|(1R)-1-carboxy-2-phenylethanaminium|D-phenylalaninium owl:Class MONDO:0100089 biolink:NamedThing GATA1-Related X-Linked Cytopenia X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. tmpak2llvmy_mondo_relaxed.owl GATA1-Related X-Linked Cytopenia|GATA1-Related Cytopenia http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:4170 biolink:NamedThing GATA1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11918 biolink:NamedThing TNFRSF4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001803 biolink:NamedThing epithelium of lens A layer of epithelial cells that is part of the eye. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of eye lens|eye lens epithelial tissue|eye lens epithelium|lens epithelium|epithelial tissue of lens|epithelium of eye lens|epithelium lentis|lens epithelial tissue owl:Class MONDO:0014128 biolink:NamedThing TCF12-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. tmpak2llvmy_mondo_relaxed.owl CRS3|craniosynostosis caused by mutation in TCF12|TCF12-related craniosynostosis|TCF12 craniosynostosis|craniosynostosis 3|craniosynostosis type 3 UMLS:C3715051|OMIM:615314 https://github.com/monarch-initiative/mondo/issues/2657 owl:Class HGNC:11623 biolink:NamedThing TCF12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010169 biolink:NamedThing Usher syndrome type 2A Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. tmpak2llvmy_mondo_relaxed.owl USHER syndrome, type IIA|Usher syndrome type IIA|USH2A|US2|Usher syndrome, type 2A|Usher syndrome caused by mutation in USH2A|USH2A Usher syndrome|Usher syndrome type 2A UMLS:C1848634|OMIM:276901|GARD:0005440|DOID:0110838|ICD10:H35.5|MESH:C536490 owl:Class HGNC:12601 biolink:NamedThing USH2A tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p35.2 biolink:NamedThing chr1p35.2 (Human) tmpak2llvmy_mondo_relaxed.owl 32300000 29900000 hg38 owl:Class UBERON:0003289 biolink:NamedThing meninx of telencephalon A meninx that is part of a telencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl telencephalon meninges|telencephalon meninx|meninges of telencephalon owl:Class MONDO:0027766 biolink:NamedThing generalized lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. tmpak2llvmy_mondo_relaxed.owl complete generalized lipodystrophy NCIT:C131815|UMLS:C4317112|HP:0009064|DOID:0080298 owl:Class HP:0009064 biolink:NamedThing Generalized lipodystrophy Generalized degenerative changes of the fat tissue. tmpak2llvmy_mondo_relaxed.owl Generalised lipodystrophy|Lipodystrophy, generalised|Lipodystrophy, generalized SNOMEDCT_US:284449005|UMLS:C0221032|MSH:D052497|SNOMEDCT_US:86907008 HP:0008966 human_phenotype owl:Class MONDO:0014788 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2W Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. tmpak2llvmy_mondo_relaxed.owl LIMS2 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|muscular dystrophy, limb-girdle, type 2w|muscular dystrophy, limb-girdle, type 2W|LGMD2W DOID:0110288|UMLS:C4225192|Orphanet:466801|OMIM:616827 owl:Class HGNC:16084 biolink:NamedThing LIMS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009617 biolink:NamedThing head paraxial mesoderm Bilateral mesenchymal mesoderm parallel and immediately adjacent to the neural tube/notochord; it generates a subset of extra-ocular, and other head, muscles. tmpak2llvmy_mondo_relaxed.owl head paraxial mesenchyme|cephalic paraxial mesenchyme|cephalic paraxial mesoderm|somitomeric mesoderm|cranial paraxial mesenchyme|cranial paraxial mesoderm|somitomere owl:Class NCBITaxon:485 biolink:NamedThing Neisseria gonorrhoeae tmpak2llvmy_mondo_relaxed.owl Gonococcus neisseri|Micrococcus gonococcus|Micrococcus gonorrhoeae|Micrococcus der gonorrhoe|Diplococcus gonorrhoeae|Merismopedia gonorrhoeae GC_ID:11 ncbi_taxonomy owl:Class UBERON:0000121 biolink:NamedThing perineurium A layer of thin, concentrically arranged cells with interspersed collagen that lies within the epineurium. (Nolte, J., The Human Brain 3rd edition) tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001019 biolink:NamedThing nerve fasciculus A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). tmpak2llvmy_mondo_relaxed.owl nerve fiber tract|neural fasciculus|fascicle|nerve bundle|nerve fasciculus|fasciculus owl:Class UBERON:0007158 biolink:NamedThing lumen of anal canal An anatomical cavity that surrounded_by a anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal lumen owl:Class UBERON:0000159 biolink:NamedThing anal canal The terminal part of the large intestine, continuous proximally with the rectum and distally terminates with the anus. tmpak2llvmy_mondo_relaxed.owl anus|cloacal chamber|mesenteron|anal canal viewed anatomically|pars analis recti|anal canal|anatomical anal canal|anal pad|canalis analis|cloaca owl:Class UBERON:0001081 biolink:NamedThing endocardium of ventricle Endocardium that is part of the cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl cardiac ventricle endocardium|ventricle endocardium|ventricle endocardial tissue|endocardium of heart ventricle|ventricular endocardium|ventricle of heart endocardium|heart ventricle endocardium|endocardium of ventricle of heart|lower chamber of heart endocardium|endocardium of lower chamber of heart|endocardium of cardiac ventricle owl:Class MONDO:0019355 biolink:NamedThing adult-onset Still disease A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. tmpak2llvmy_mondo_relaxed.owl AOSD|adult-onset Still disease|adult Still's disease|adult-onset Still's disease|Wissler-Fanconi syndrome|adult onset Still's disease|Still's disease adult onset Orphanet:829|DOID:14256|EFO:0007135|GARD:0000436|SCTID:68190001|ICD10:M06.1|UMLS:C0085253|MedDRA:10058493|UMLS:CN206037|MESH:D016706|ICD9:759.89|ICD9:714.2|SCTID:239920006|MedDRA:10064056 https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease owl:Class UBERON:0004850 biolink:NamedThing lymph node endothelium An endothelium that is part of a lymph node [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl endothelium of lymph node owl:Class MONDO:0014999 biolink:NamedThing tooth agenesis, selective, 9 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. tmpak2llvmy_mondo_relaxed.owl tooth agenesis, selective, 9|STHAG9|tooth agenesis, selective, type 9|GREM2 tooth agenesis|tooth agenesis, selective, 9; STHAG9|tooth agenesis caused by mutation in GREM2 OMIM:617275 owl:Class HGNC:17655 biolink:NamedThing GREM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008338 biolink:NamedThing contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A tmpak2llvmy_mondo_relaxed.owl DA8|arthrogryposis, distal, type 8|multiple pterygium syndrome, autosomal dominant|distal arthrogryposis type 8|pterygium syndrome, multiple, autosomal dominant Orphanet:65743|ICD10:Q79.8|UMLS:C1867440|OMIM:178110|GARD:0013058|MESH:C566739 https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome owl:Class HGNC:7573 biolink:NamedThing MYH3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005648 biolink:NamedThing manual digit 5 epithelium An epithelium that is part of a manual digit 5. tmpak2llvmy_mondo_relaxed.owl manual digit V epithelium|hand digit 5 epithelium|fore limb digit 5 epithelium owl:Class UBERON:0003625 biolink:NamedThing manual digit 5 5th digit of the manus. tmpak2llvmy_mondo_relaxed.owl manual digitus minimus|5th digit of hand|finger 5|5th finger|little finger|manual digit V|fore digit V|hand digit 5|fifth finger|digit 5 of fore-paw|manual digitus V|fifth digit of hand|manus digiti minimi|manus quintus|fore limb digit 5 owl:Class GO:1902495 biolink:NamedThing transmembrane transporter complex A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016021 biolink:NamedThing integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl integral to membrane|transmembrane owl:Class UBERON:0001709 biolink:NamedThing upper jaw region Subdivision of head that consists of the upper jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. tmpak2llvmy_mondo_relaxed.owl maxillary part of mouth proper|maxillary part of mouth|dorsal pharyngeal arch 1|palatoquadrate arch|upper pharyngeal jaws|dorsal mandibular arch|alveolodental arch of bimaxilla owl:Class UBERON:0001442 biolink:NamedThing skeleton of manus Subdivision of skeleton that is the collection of all skeletal elements in a manus, which is the distal section of the anterior forelimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the wrist, palm, and fingers)[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl manus|forelimb autopod skeleton|anterior autopodium skeleton|hand skeleton|anterior autopodium|manual skeleton|ossa manus|manus skeleton|hand region skeleton|bones of hand|fore autopod skeleton|set of bones of hand|skeleton of hand owl:Class MONDO:0012120 biolink:NamedThing pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase phosphatase deficiency|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency|PDHPD Orphanet:79246|GARD:0009888|ICD10:E74.4|UMLS:C1837429|MESH:C536258|OMIM:608782 https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency owl:Class HGNC:9279 biolink:NamedThing PDP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023692 biolink:NamedThing maple syrup urine disease type 1B A maple syrup urine disease caused by mutations in BCKDHB. tmpak2llvmy_mondo_relaxed.owl maple syrup urine disease type 1B|MSUD type 3 (formerly)|MSUD type IB|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex GARD:0008597 https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b owl:Class HGNC:987 biolink:NamedThing BCKDHB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013904 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. tmpak2llvmy_mondo_relaxed.owl POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related|muscle-eye-brain-POMGNT2 related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|MDDGA8 OMIM:614830|UMLS:C3553813|DOID:0111231 owl:Class HGNC:25902 biolink:NamedThing POMGNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003709 biolink:NamedThing circle of Willis A circle of arteries that supply blood to the brain. The Circle of Willis comprises the following arteries: Anterior cerebral artery (left and right); Anterior communicating artery; Internal carotid artery (left and right); Posterior cerebral artery (left and right); Posterior communicating artery (left and right).The basilar artery and middle cerebral arteries, supplying the brain, are also considered part of the circle tmpak2llvmy_mondo_relaxed.owl circulus arteriosus cerebri|Willis circle|cerebral arterial circle|arterial circle|arterial circle of Willis owl:Class Nf58f4b78145b48f7b36af081badf548f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006262 biolink:NamedThing lacrimal gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of lacrimal gland|lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland NCIT:C4540|SCTID:254987003|EFO:1000317|DOID:4870|UMLS:C0346340 owl:Class UBERON:0001817 biolink:NamedThing lacrimal gland The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP]. tmpak2llvmy_mondo_relaxed.owl lacrimal-preorbital gland|preorbital gland|glandula praeorbitalis|glandula lacrimalis|tear gland owl:Class MONDO:0003193 biolink:NamedThing bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the bile duct tmpak2llvmy_mondo_relaxed.owl bile duct adenocarcinoma DOID:4896|UMLS:C1370800|NCIT:C27813 owl:Class MONDO:0014603 biolink:NamedThing autosomal dominant nonsyndromic deafness 40 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene. tmpak2llvmy_mondo_relaxed.owl CRYM autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 40|deafness, autosomal dominant type 40|DFNA40|autosomal dominant deafness 40|autosomal dominant nonsyndromic deafness type 40|deafness, autosomal dominant 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM DOID:0110566|UMLS:C4084708|ICD10:H90.3|OMIM:616357 owl:Class MONDO:0010497 biolink:NamedThing intellectual disability, X-linked 102 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. tmpak2llvmy_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in DDX3X|DDX3X non-syndromic X-linked intellectual disability|intellectual disability, X-linked 102|mental retardation, X-linked type 102|mental retardation, X-linked 102|DDX3X-related intellectual disability|MRX102|intellectual disability, X-linked type 102 UMLS:C4085582|OMIM:300958|NCIT:C129931|GARD:0012715 owl:Class HGNC:2745 biolink:NamedThing DDX3X tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:30102 biolink:NamedThing diazynium tmpak2llvmy_mondo_relaxed.owl HN2+|diazynium|N#NH(+) owl:Class CHEBI:17997 biolink:NamedThing dinitrogen An elemental molecule consisting of two trivalently-bonded nitrogen atoms. tmpak2llvmy_mondo_relaxed.owl Nitrogen|N#N|N2|molecular nitrogen|dinitrogen owl:Class MONDO:0005424 biolink:NamedThing elephantiasis Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. tmpak2llvmy_mondo_relaxed.owl DOID:4976|EFO:0004711|UMLS:C0013882|MESH:D004604 owl:Class MONDO:0010859 biolink:NamedThing atrioventricular septal defect 3 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. tmpak2llvmy_mondo_relaxed.owl atrioventricular septal defect 3|atrioventricular septal defect type 3|atrioventricular septal defect caused by mutation in GJA1|GJA1 atrioventricular septal defect|AVSD3 UMLS:C3275750|OMIM:600309 owl:Class HGNC:24891 biolink:NamedThing DCAF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011814 biolink:NamedThing Smith-McCort dysplasia 1 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. tmpak2llvmy_mondo_relaxed.owl Smith-McCort dysplasia 1|Smc1|DYM Smith-McCort dysplasia|Smith-McCort dysplasia type 1|SMC|Smith-McCort dysplasia caused by mutation in DYM|SMITH-McCort dysplasia 1 UMLS:C3888088|OMIM:607326 owl:Class HGNC:21317 biolink:NamedThing DYM tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001200 biolink:NamedThing submucosa of stomach the fibrous connective tissue layer beneath the stomach mucosa tmpak2llvmy_mondo_relaxed.owl gastric submucosa|submucous layer of stomach|tela submucosa ventriculi|submucosa of ventriculus|tela submucosa gastricae|stomach submucosa|tela submucosa (gaster)|ventriculus submucosa owl:Class UBERON:0011368 biolink:NamedThing brachiocephalic muscle The brachiocephalicus is a long and flat, complex of muscles that extends from the lower half of the humeral shaft to the head and neck. The muscle divides into two parts at the clavicular intersection. This is also the point of origin for all the muscles that make up the brachiocephalicus. This point is situated just cranial to the shoulder. The two main sections are the cleidobrachialis which is distal to the clavicular intersection and the cleidocephalicus which extends proximally to the clavivular intersection. The cleidocephalicus can also be divided into the pars cervicalis, which inserts on the broad aponeurosis, over the fibrous raphe of the cranial half of the neck. The other part, the pars mastoideus inserts on the mastoid process of the temporal bone via a strong tendon. The cleidobrachialis extends distally from the clavicular intersection and inserts on the cranial edge of the distal half of the humerus. The tendon that inserts the cleidobrachialis lies between the brachialis muscle and the biceps brachii. As a result of the brachiocephalicus spanning a large region it has the ability to provide a number of actions. These include extending the shoulder joint, protracts the limb, provides lateral movement of the head and allows the neck to be depressed. tmpak2llvmy_mondo_relaxed.owl brachiocephalicus owl:Class MONDO:0011894 biolink:NamedThing Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2E|Charcot-Marie-Tooth disease, axonal, type 2E|NEFL Charcot-Marie-Tooth disease type 2|CMT2E|CMT 2E|Charcot Marie Tooth disease type 2E|Charcot-Marie-Tooth neuropathy, type 2E|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL ICD10:G60.0|OMIM:607684|MESH:C537994|GARD:0009193|Orphanet:99939|SCTID:717012004|DOID:0110165|NCIT:C134953 https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e owl:Class HGNC:7739 biolink:NamedThing NEFL tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002145 biolink:NamedThing Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. tmpak2llvmy_mondo_relaxed.owl UMLS:C0338451|MSH:D057180|SNOMEDCT_US:230270009 human_phenotype owl:Class MONDO:0011226 biolink:NamedThing autosomal dominant nonsyndromic deafness 15 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 15|autosomal dominant deafness 15|autosomal dominant nonsyndromic deafness type 15|autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|deafness, autosomal dominant 15|POU4F3 autosomal dominant nonsyndromic deafness|DFNA15 ICD10:H90.3|DOID:0110546|MESH:C566545|OMIM:602459|UMLS:C1865366 owl:Class MONDO:0010511 biolink:NamedThing vas deferens, congenital bilateral aplasia of, X-linked tmpak2llvmy_mondo_relaxed.owl vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked|CBAVDX OMIM:300985|UMLS:C4310815 owl:Class HGNC:4516 biolink:NamedThing ADGRG2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001003 biolink:NamedThing pneumoconiosis due to talc Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities. tmpak2llvmy_mondo_relaxed.owl talc pneumoconiosis UMLS:C0238377|NCIT:C27026|ICD9:502|DOID:10329|SCTID:73144008|ICD10:J62.0 owl:Class ENVO:01001285 biolink:NamedThing talc dust Dust which is primarily composed of hydrated magnesium silicate (talc) particles. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003820 biolink:NamedThing prostate bud A region of the fetal urogenital sinus epithelium destined to become the prostate[GO]. tmpak2llvmy_mondo_relaxed.owl prostate gland bud|prostate primordium|prostatic bud|prostate ductal progenitor owl:Class MONDO:0012806 biolink:NamedThing ectodermal dysplasia and immunodeficiency 2 tmpak2llvmy_mondo_relaxed.owl EPAID2|ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant MESH:C567411|OMIM:612132|UMLS:C2677481 owl:Class UBERON:0008989 biolink:NamedThing submucosal esophageal gland One of the racemose glands in the walls of the esophagus that in humans are small and serve principally to lubricate the food but in some birds secrete a milky fluid on which the young are fed. tmpak2llvmy_mondo_relaxed.owl submocosal esophageal gland|glandulae oesophageae|esophageal gland|mucous gland of submucosa of esophagus owl:Class UBERON:0001829 biolink:NamedThing major salivary gland One of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004426 biolink:NamedThing proximal epiphysis of fifth metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fifth metacarpal bone base|base of fifth metacarpal bone|proximal end of fifth metacarpal bone|proximal epiphysis of metacarpal 5 owl:Class MONDO:0013501 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in VCP|VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis, with or without frontotemporal dementia UMLS:C3151403|DOID:0060205|OMIM:613954 owl:Class HGNC:12666 biolink:NamedThing VCP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011442 biolink:NamedThing advanced sleep phase syndrome 1 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. tmpak2llvmy_mondo_relaxed.owl FASPS1|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome caused by mutation in PER2|advanced sleep phase syndrome, familial, type 1 OMIM:604348|DOID:0110011|UMLS:C3807327 owl:Class HGNC:8846 biolink:NamedThing PER2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000085 biolink:NamedThing mononuclear cell of umbilical cord Any mononuclear cell that is part of a umbilical cord. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T20:14:16Z cell owl:Class MONDO:0014570 biolink:NamedThing lethal congenital contracture syndrome 8 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome type 8|ADCY6 lethal congenital contracture syndrome|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome caused by mutation in ADCY6|LCCS8 UMLS:C4225385|OMIM:616287 owl:Class GO:0002674 biolink:NamedThing negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. tmpak2llvmy_mondo_relaxed.owl downregulation of acute inflammatory response|inhibition of acute inflammatory response|down-regulation of acute inflammatory response|down regulation of acute inflammatory response owl:Class GO:0002526 biolink:NamedThing acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009680 biolink:NamedThing set of upper jaw teeth A tooth row that is part of a skeleton of upper jaw. tmpak2llvmy_mondo_relaxed.owl arcus dentalis superior|upper jaw teeth|maxillary dental arcade|set of all upper teeth|upper dental arcade owl:Class MONDO:0018683 biolink:NamedThing acquired ichthyosis A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. tmpak2llvmy_mondo_relaxed.owl acquired ichthyosis (disease)|acquired ichthyosis|ichthyosis, acquired|fish scale disease, acquired|ichthyosis acquisita MESH:C538175|NCIT:C112831|Orphanet:454|ICD10:L85.0|SCTID:8691004|GARD:0000476 https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired owl:Class MONDO:0018950 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. tmpak2llvmy_mondo_relaxed.owl BMCC deficiency|3MCC deficiency|MCCD|3-methylcrotonyl-CoA carboxylase deficiency|3-MCC deficiency|MCC deficiency|3-methylcrotonylglycinuria|Methylcrotonyl-CoA carboxylase deficiency|methylcrotonylglycinuria DOID:0050710|OMIMPS:210200|Orphanet:6|ICD10:E71.1|NCIT:C98674|GARD:0010954|SCTID:13144005|UMLS:CN239165|UMLS:C0268600 owl:Class MONDO:0009310 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. tmpak2llvmy_mondo_relaxed.owl granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|neutrophil cytosol Factor 2, deficiency of|CDG2|P67-PHOX, deficiency of|NCF2 chronic granulomatous disease|granulomatous disease, chronic, due to Ncf2 deficiency|Ncf2, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 2|chronic granulomatous disease caused by mutation in NCF2|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 UMLS:C1856245|DOID:0070191|MESH:C565531|OMIM:233710 owl:Class HGNC:7661 biolink:NamedThing NCF2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004879 biolink:NamedThing nuclear receptor activity A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. tmpak2llvmy_mondo_relaxed.owl estrogen nuclear receptor activity|vitamin D3 receptor activity|thyroid hormone receptor activity|vitamin A receptor activity|RXR|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding|juvenile hormone receptor activity|glucocorticoid receptor activity|nuclear hormone receptor|1,25-(OH)2D3 receptor activity|ecdysteroid hormone receptor activity|9-cis retinoic acid receptor activity|nuclear receptor activity|androgen receptor activity|calcitriol receptor activity|vitamin D receptor activity|ligand-dependent nuclear receptor activity|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity|retinoic acid receptor activity|ligand-dependent transcription factor activity|retinoid-X receptor activity owl:Class MONDO:0019542 biolink:NamedThing acute liver failure Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. tmpak2llvmy_mondo_relaxed.owl acute hepatic failure|fulminant hepatic failure MESH:D017114|NCIT:C84396|ICD10:K72.0|SCTID:197270009|MedDRA:10000804|Orphanet:90062|UMLS:C0162557 owl:Class UBERON:0004200 biolink:NamedThing kidney pyramid Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. tmpak2llvmy_mondo_relaxed.owl renal pyramid|pyramid of Malpighi|Malphigian pyramid|pyramis renalis|pyramides renales|Malpighian pyramid|pyramid of Malphigi|pyramid|medullary pyramid|renal medullary region owl:Class UBERON:0000362 biolink:NamedThing renal medulla the inner portion of the kidney consisting of the renal pyramids tmpak2llvmy_mondo_relaxed.owl renal medullae|kidney medulla|renal pyramids|renal marrow|renal pyramids set|medullary pyramids|medulla renalis|pyramides renales|medulla of kidney|renal medullae set owl:Class UBERON:0006256 biolink:NamedThing knee joint primordium tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7p2 biolink:NamedThing chr7p2 (Human) tmpak2llvmy_mondo_relaxed.owl 20900000 0 hg38 owl:Class OBO:CHR_9606-chr7p biolink:NamedThing chr7p (Human) tmpak2llvmy_mondo_relaxed.owl 60100000 0 hg38 owl:Class MONDO:0013276 biolink:NamedThing Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). tmpak2llvmy_mondo_relaxed.owl primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia|Reynolds syndrome|primary biliary cirrhosis and systemic scleroderma Orphanet:779|ICD10:K74.3|GARD:0004697|SCTID:715401008|UMLS:C0748397|ICD10:L94.0|OMIM:613471 https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome owl:Class HGNC:6518 biolink:NamedThing LBR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061036 biolink:NamedThing positive regulation of cartilage development Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009433 biolink:NamedThing hypoplastic left heart syndrome 1 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. tmpak2llvmy_mondo_relaxed.owl hypoplastic left heart syndrome caused by mutation in GJA1|GJA1 hypoplastic left heart syndrome|HLHS|hypoplastic left heart syndrome 1|HLHS1|hypoplastic left heart syndrome type 1 OMIM:241550|UMLS:CN031062 owl:Class MONDO:0017391 biolink:NamedThing Grayson-Wilbrandt corneal dystrophy Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. tmpak2llvmy_mondo_relaxed.owl GWCD ICD10:H18.5|SCTID:717286002|Orphanet:293375 owl:Class UBERON:0004370 biolink:NamedThing anterior limiting lamina of cornea A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. tmpak2llvmy_mondo_relaxed.owl anterior limiting lamina of cornea|lamina limitans anterior corneae|anterior limiting membrane|Reichert's membrane|anterior limiting lamina|Bowman's anterior elastic lamina|lamina limitans anterior (cornea)|Bowman's membrane|anterior elastic lamina|Bowman's layer owl:Class GO:0045087 biolink:NamedThing innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. tmpak2llvmy_mondo_relaxed.owl nonspecific immune response|innate immunity owl:Class MONDO:0018695 biolink:NamedThing avian influenza Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. tmpak2llvmy_mondo_relaxed.owl avian flu|bird flu UMLS:CN237762|DOID:4492|MESH:D005585|SCTID:55604004|EFO:0005222|Orphanet:454836|ICD10:J09|UMLS:C0016627|ICD10:J09.X owl:Class NCBITaxon:11320 biolink:NamedThing Influenza A virus tmpak2llvmy_mondo_relaxed.owl Human Influenza A Virus|Influenza virus type A|FLUAV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009505 biolink:NamedThing mesenchyme of trachea Mesenchyme that is part of a developing trachea. tmpak2llvmy_mondo_relaxed.owl trachea associated mesenchyme owl:Class GO:0002652 biolink:NamedThing regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpak2llvmy_mondo_relaxed.owl regulation of immune response-dependent tolerance induction owl:Class CL:0002541 biolink:NamedThing chorionic membrane mesenchymal stem cell A mesenchymal stem cell of the chorionic membrane. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T03:04:35Z cell owl:Class UBERON:0003124 biolink:NamedThing chorion membrane the outermost extraembryonic membrane tmpak2llvmy_mondo_relaxed.owl chorion|chorion frondosum|fetal chorion|embryonic chorion|chorion (vertebrates)|chorionic sac|uterine chorion owl:Class MONDO:0019722 biolink:NamedThing glomerular disease A disease involving the renal glomerulus. tmpak2llvmy_mondo_relaxed.owl glomerulopathies|renal glomerulus disease|glomerulopathy|renal glomerulus disease or disorder|disease of renal glomerulus|disease or disorder of renal glomerulus|disorder of renal glomerulus ICD10:N00.N08|NCIT:C120887|UMLS:CN580795|GTR:AN0966176|SCTID:197679002|Orphanet:93548 owl:Class CHEBI:57981 biolink:NamedThing D-phenylalanine zwitterion A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2R)-2-azaniumyl-3-phenylpropanoate|(2R)-2-ammonio-3-phenylpropanoate|D-phenylalanine owl:Class HGNC:15710 biolink:NamedThing LDB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016858 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. tmpak2llvmy_mondo_relaxed.owl blepharophimosis types 1 and 2 due to a point mutation Orphanet:261572|ICD10:Q10.3|UMLS:CN202201 owl:Class UBERON:0006965 biolink:NamedThing vascular cord The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048754 biolink:NamedThing branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. tmpak2llvmy_mondo_relaxed.owl tubulogenesis owl:Class MONDO:0010833 biolink:NamedThing Hirschsprung disease, susceptibility to, 2 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. tmpak2llvmy_mondo_relaxed.owl EDNRB Hirschsprung disease|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease type 2|Hirschsprung disease, susceptibility to, type 2|HSCR2|susceptibility to Hirschsprung disease 2|Hirschsprung disease, susceptibility to, 2 OMIM:600155|GARD:0002698 https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2 owl:Class HGNC:3180 biolink:NamedThing EDNRB tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001673 biolink:NamedThing cystic Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. tmpak2llvmy_mondo_relaxed.owl cysts owl:Class MONDO:0014694 biolink:NamedThing spondylocostal dysostosis 6, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene. tmpak2llvmy_mondo_relaxed.owl SCDO6|RIPPLY2 autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 6, autosomal recessive|spondylocostal dysostosis 6|autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2 OMIM:616566|GARD:0012807|UMLS:C4225279 owl:Class CHEBI:6121 biolink:NamedThing ketamine A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group. tmpak2llvmy_mondo_relaxed.owl 2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|ketamine|(+-)-ketamine|NMDA|dl-ketamine|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone|ketaminum|special K|ketamina|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|DL-ketamine|Ketamine|KETAMINE owl:Class MONDO:0008895 biolink:NamedThing hereditary arterial and articular multiple calcification syndrome Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. tmpak2llvmy_mondo_relaxed.owl arterial calcification and distal joint calcification|arterial calcification due to deficiency of Cd73|ACDC|calcification of joints and arteries|arterial calcification due to CD73 deficiency|CALJA UMLS:C1859372|GARD:0010762|MESH:C565891|UMLS:C4305347|Orphanet:289601|OMIM:211800|DOID:0111582|SCTID:718602007 owl:Class GO:0042105 biolink:NamedThing alpha-beta T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. tmpak2llvmy_mondo_relaxed.owl alpha-beta T-lymphocyte receptor complex|alpha-beta TCR complex|alpha-beta T-cell receptor complex|alpha-beta T lymphocyte receptor complex owl:Class MONDO:0012850 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 1 tmpak2llvmy_mondo_relaxed.owl nephrolithiasis/osteoporosis, hypophosphatemic, type 1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1|NPHLOP1 DOID:0080077|UMLS:C2676786|OMIM:612286|MESH:C567363 owl:Class UBERON:0003416 biolink:NamedThing mesenchyme of tongue Mesenchyme that is part of a developing tongue [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tongue mesenchyme owl:Class UBERON:0002283 biolink:NamedThing nail matrix Portion of tissue (or germinal matrix) upon which the nail rests, the part of the nail bed that extends beneath the nail root and contains nerves, lymph and blood vessels. The matrix is responsible for the production of the cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, and thickness of the matrix, while the shape of the fingertip itself determines if the nail plate is flat, arched, or hooked. The matrix will continue to grow as long as it receives nutrition and remains in a healthy condition. As new nail plate cells are incubated, they emerge from the matrix round and white to push older nail plate cells forward; and in this way yet older cells become compressed, flat, and translucent, making the pink colour of the capillaries in the nail bed below visible[WP]. tmpak2llvmy_mondo_relaxed.owl matrix unguis|onychostroma|nail root|nail germinal matrix|keratogenous membrane owl:Class MONDO:0013901 biolink:NamedThing spermatogenic failure 10 Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene. tmpak2llvmy_mondo_relaxed.owl SEPT12 azoospermia|spermatogenic failure with defective sperm annulus|spermatogenic failure type 10|azoospermia caused by mutation in SEPT12|SPGF10|spermatogenic failure 10 UMLS:C3553793|OMIM:614822|DOID:0070178 owl:Class HGNC:26348 biolink:NamedThing SEPTIN12 tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0025233 biolink:NamedThing portion of embryo plant tissue A portion of plant tissue (PO:0009007) that is part of a plant embryo (PO:0009009). tmpak2llvmy_mondo_relaxed.owl portion of embryonic plant tissue (exact)|植物胚性組織 の一部 (Japanese, exact)|portion of embryo tissue (broad)|tejido embriónico vegetal (Spanish, exact) PO_GIT:338 This class is for tissues that only occur as part of an embryo. rwalls 2010-12-20T12:27:10Z plant_anatomy owl:Class GO:0140110 biolink:NamedThing transcription regulator activity A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000066 biolink:NamedThing cardiac ventricle fibroblast Any fibroblast that is part of a cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6310 TermGenie 2014-10-07T18:35:38Z cell owl:Class UBERON:0004742 biolink:NamedThing dentary The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. tmpak2llvmy_mondo_relaxed.owl sur-angulaire|dentaries|dentary bone|dentale|os dentale owl:Class UBERON:0010336 biolink:NamedThing mandibular process mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a mandibular process mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003840 biolink:NamedThing epicardium lipoma A rare benign adipose tissue neoplasm of the epicardium of the heart. tmpak2llvmy_mondo_relaxed.owl epicardial lipoma|epicardium lipoma|lipoma of the epicardium|lipoma of epicardium DOID:6284|NCIT:C6742|UMLS:C1333411 owl:Class MONDO:0000973 biolink:NamedThing external ear lipoma A benign adipose tissue neoplasm of the external ear. tmpak2llvmy_mondo_relaxed.owl lipoma of external auditory meatus|lipoma of external Ear|external ear lipoma|lipoma of the external Ear|external Ear lipoma|external auditory meatus lipoma|lipoma of the external ear|lipoma of the external auditory meatus|lipoma of external ear SCTID:188988008|NCIT:C4618|DOID:10203|ICD9:215.0|UMLS:C0347423 owl:Class UBERON:0000015 biolink:NamedThing non-material anatomical boundary A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. tmpak2llvmy_mondo_relaxed.owl anatomical boundary owl:Class GO:0032042 biolink:NamedThing mitochondrial DNA metabolic process The chemical reactions and pathways involving mitochondrial DNA. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA metabolism|mtDNA metabolic process|mtDNA metabolism owl:Class GO:0000002 biolink:NamedThing mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q37 biolink:NamedThing chr2q37 (Human) tmpak2llvmy_mondo_relaxed.owl 242193529 230100000 hg38 owl:Class CL:0002617 biolink:NamedThing adipocyte of breast A fat cell that is part of the breast. tmpak2llvmy_mondo_relaxed.owl breast adipocyte|fat cell of breast CALOHA:TS-2377 Adipocytes found in the subcutaneous adipose tissue of breast. The breast consists of three main components, the skin, the subcutaneous adipose tissue and the functional glandular tissue that comprises both parenchyma and stroma.[CALOHA] tmeehan 2011-03-14T10:17:07Z cell owl:Class UBERON:0000310 biolink:NamedThing breast The upper ventral region of the torso of an organism. tmpak2llvmy_mondo_relaxed.owl mamma|mammary region|mammary part of chest owl:Class MONDO:0013245 biolink:NamedThing syndromic multisystem autoimmune disease due to ITCH deficiency tmpak2llvmy_mondo_relaxed.owl syndromic multisystem autoimmune disease|autoimmune disease, syndromic multisystem|ADMFD|autoimmune disease, multisystem, with facial dysmorphism|ITCH E3 ubiquitin ligase deficiency|syndromic multisystem autoimmune disease due to ITCH deficiency UMLS:C3150649|GARD:0010775|OMIM:613385|Orphanet:228426 https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency owl:Class HGNC:13890 biolink:NamedThing ITCH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013787 biolink:NamedThing psychomotor retardation, epilepsy, and craniofacial dysmorphism tmpak2llvmy_mondo_relaxed.owl PMRED|psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501|UMLS:C3281055 owl:Class HGNC:30587 biolink:NamedThing SNIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905504 biolink:NamedThing negative regulation of motile cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly. tmpak2llvmy_mondo_relaxed.owl negative regulation of motile primary cilium formation|down regulation of motile primary cilia assembly|negative regulation of motile primary cilia assembly|down regulation of motile primary cilium assembly|down regulation of motile primary cilia formation|inhibition of nodal cilium assembly|down-regulation of motile primary cilium assembly|inhibition of motile primary cilia assembly|down-regulation of motile primary cilium formation|downregulation of motile primary cilia formation|down-regulation of nodal cilium formation|downregulation of motile primary cilium assembly|negative regulation of motile primary cilia formation|down-regulation of motile primary cilia formation|down-regulation of motile primary cilia assembly|negative regulation of nodal cilium assembly|inhibition of motile primary cilia formation|inhibition of motile primary cilium assembly|inhibition of nodal cilium formation|downregulation of nodal cilium formation|down regulation of motile primary cilium formation|downregulation of motile primary cilium formation|negative regulation of motile primary cilium assembly|negative regulation of nodal cilium formation|downregulation of nodal cilium assembly|down-regulation of nodal cilium assembly|down regulation of nodal cilium assembly|downregulation of motile primary cilia assembly|inhibition of motile primary cilium formation|down regulation of nodal cilium formation owl:Class GO:0044458 biolink:NamedThing motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a motile cilium. tmpak2llvmy_mondo_relaxed.owl motile primary cilia formation|nodal cilium formation|nodal cilium assembly|motile primary cilium assembly|motile primary cilium formation|motile primary cilia assembly owl:Class UBERON:0004810 biolink:NamedThing nephron tubule epithelium the cellular avascular layer of the renal tubule luminar surfaces tmpak2llvmy_mondo_relaxed.owl kidney tubule epithelium owl:Class MONDO:0007931 biolink:NamedThing vitelliform macular dystrophy 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. tmpak2llvmy_mondo_relaxed.owl vitelliform macular dystrophy, juvenile-onset|early-onset vitelliform macular dystrophy|Best disease|vitelliform macular dystrophy, type 2|macular Degeneration, polymorphic vitelline|BEST1 retinopathy|BVMD|BMD|macular dystrophy, vitelliform, 2|Best vitelliform macular dystrophy, multifocal|Best macular dystrophy|macular dystrophy, vitelliform, type 2|VMD2|macular degeneration, polymorphic vitelline|polymorphic vitelline macular degeneration|juvenile-onset vitelliform macular dystrophy|vitelliform macular dystrophy type 2|vitelliform macular dystrophy, early-onset SCTID:763387005|GARD:0000182|OMIM:153700|Orphanet:1243|GARD:0010301|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy owl:Class HGNC:15506 biolink:NamedThing TSEN34 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014387 biolink:NamedThing leukoencephalopathy, progressive, with ovarian failure tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy, progressive, with ovarian failure|LKENP UMLS:C4014588|OMIM:615889 owl:Class UBERON:0001446 biolink:NamedThing fibula The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010696 biolink:NamedThing skeleton of pedal acropodium The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the pedal autopodium - i.e. the bones of the foot or their cartilaginous precursors[cjm]. tmpak2llvmy_mondo_relaxed.owl set of pedal phalanges|set of phalanges of pes|posterior acropodium|pedal phalanges|phalanges of foot|phalanges of pes|set of phalanges of foot|foot digit skeleton|hind acropodium skeleton|posterior acropodium skeleton|all phalanges in hindlimb autopod owl:Class GO:0005739 biolink:NamedThing mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpak2llvmy_mondo_relaxed.owl mitochondria owl:Class UBERON:0007288 biolink:NamedThing presumptive forebrain midbrain boundary A presumptive structure that has the potential to develop into a forebrain-midbrain boundary. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12372 biolink:NamedThing TSHB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18292 biolink:NamedThing CFC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006565 biolink:NamedThing female urethral meatus A urethral meatus that is part of a female urethra[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl urethral meatus of clitoral urethra|external urethral orifice (female)|external orifice of female urethra|urethral opening of clitoral urethra|distal urethral opening of female|ostium urethrae externum (urethra feminina)|female urethral meatus owl:Class UBERON:0003100 biolink:NamedThing female organism Gonochoristic organism that can produce female gametes. tmpak2llvmy_mondo_relaxed.owl female|female human body owl:Class UBERON:0003866 biolink:NamedThing middle phalanx of pes A middle phalanx that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foot middle phalanx|phalanx media pedis|middle pedal phalanx|middle phalanx of toe|middle phalanx of foot owl:Class MONDO:0044098 biolink:NamedThing ovarian ectopic pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. tmpak2llvmy_mondo_relaxed.owl ectopic pregnancy of ovary|ovary ectopic pregnancy|Pregnancies, ovarian|ovarian pregnancy|ovarian Pregnancies SCTID:9899009|MESH:D065172|NCIT:C92945 owl:Class UBERON:0011584 biolink:NamedThing zeugopodial skeleton Section of the forelimb skeleton located between the stylopodium and the autopodium. tmpak2llvmy_mondo_relaxed.owl mesomere 2|mesomere 2 skeleton|zeugopod skeleton|skeleton of zeugopod|epipodial skeleton|zygopodium|epipodium owl:Class MONDO:0010986 biolink:NamedThing autosomal recessive nonsyndromic deafness 9 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene. tmpak2llvmy_mondo_relaxed.owl auditory neuropathy, nonsyndromic recessive|autosomal recessive nonsyndromic deafness type 9|DFNB9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|auditory neuropathy, autosomal recessive, 1|NRSD9|autosomal recessive deafness 9|OTOF autosomal recessive nonsyndromic deafness|neurosensory nonsyndromic recessive deafness 9|autosomal recessive nonsyndromic deafness 9|deafness, autosomal recessive 9|deafness, autosomal recessive type 9 OMIM:601071|DOID:0110535|ICD10:H90.3 owl:Class HGNC:8515 biolink:NamedThing OTOF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008334 biolink:NamedThing psoriasis 1, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene. tmpak2llvmy_mondo_relaxed.owl PSORS1|susceptibility to psoriasis 1|psoriasis 1, susceptibility to|HLA-C psoriasis|psoriasis caused by mutation in HLA-C DOID:0111286|OMIM:177900 owl:Class HGNC:4933 biolink:NamedThing HLA-C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700005 biolink:NamedThing idiopathic A disease characteristic in which the disease has an uncertain or unknown cause. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0006200 biolink:NamedThing epithelioid cell uveal melanoma A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpak2llvmy_mondo_relaxed.owl uvea epithelioid cell melanoma|epithelioid cell melanoma of uvea|uveal epithelioid cell melanoma|epithelioid cell uveal melanoma UMLS:C1333422|EFO:1000244|DOID:7040|NCIT:C35780 owl:Class MONDO:0024554 biolink:NamedThing D-2-hydroxyglutaric aciduria 1 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. tmpak2llvmy_mondo_relaxed.owl D2HGA1|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH|D2HGDH D-2-hydroxyglutaric aciduria OMIM:600721|DOID:0111351|UMLS:C3152055 owl:Class HGNC:28358 biolink:NamedThing D2HGDH tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001279 biolink:NamedThing Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. tmpak2llvmy_mondo_relaxed.owl Fainting spell SNOMEDCT_US:309585006|UMLS:C0039070|SNOMEDCT_US:272030005|SNOMEDCT_US:271594007|MSH:D013575 peter 2008-02-25T10:37:00Z human_phenotype owl:Class MONDO:0022968 biolink:NamedThing dextrocardia with situs inversus Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. tmpak2llvmy_mondo_relaxed.owl situs inversus totalis GARD:0006268 https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus owl:Class MONDO:0010029 biolink:NamedThing situs inversus A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). tmpak2llvmy_mondo_relaxed.owl SIV|situs ambiguus|situs inversus totalis|situs inversus totalis (disease)|laterality sequence|heterotaxy, visceral, 5, autosomal|HTX5|complete transposition (morphologic abnormality)|complete situs inversus|situs inversus viscerum|complete situs inversus viscerum|situs inversus DOID:758|ICD9:759.3|NCIT:C87121|Orphanet:101063|GARD:0004883|ICD9:759.89|OMIM:270100|ICD10:Q89.3|HP:0001696|MESH:D012857|SCTID:24614000 owl:Class MONDO:0009282 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. tmpak2llvmy_mondo_relaxed.owl Ga 2|glutaric acidemia type II|glutaric aciduria type 2|glutaric aciduria, type 2|electron transfer flavoprotein deficiency|MADD|glutaric acidemia type 2|glutaric acidemia 2A|glutaric acidemia 2B|EMA|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|glutaric acidemia 2|Etfa deficiency|Etfb deficiency|ethylmalonic-Adipicaciduria|Etfdh deficiency|multiple acyl Coenzyme A dehydrogenase deficiency|glutaric acidemia 2C|glutaric aciduria 2|MAD deficiency|multiple acyl-CoA dehydrogenase deficiency ICD10:E71.313|Orphanet:26791|ICD10:E71.3|DOID:0060358|NCIT:C84907|OMIM:231680|UMLS:C0268596|GARD:0006523 Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). owl:Class MONDO:0014898 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. tmpak2llvmy_mondo_relaxed.owl PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia, autosomal recessive 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|TK2 autosomal recessive progressive external ophthalmoplegia|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2 UMLS:C4310734|DOID:0111523|OMIM:617069 owl:Class GO:0030594 biolink:NamedThing neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016011 biolink:NamedThing dystroglycan complex A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005076 biolink:NamedThing hindbrain-spinal cord boundary An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord. tmpak2llvmy_mondo_relaxed.owl hindbrain-spinal cord boundary region owl:Class UBERON:0011820 biolink:NamedThing atrioventricular region An anatomical junction that divides and overlaps with and atrium and a ventricle in the heart. tmpak2llvmy_mondo_relaxed.owl atrioventricular junction|AV region|atrioventricular segment|AV segment|atrial ventricular junction owl:Class GO:0040017 biolink:NamedThing positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. tmpak2llvmy_mondo_relaxed.owl up-regulation of locomotion|up regulation of locomotion|stimulation of locomotion|upregulation of locomotion|activation of locomotion owl:Class HsapDv:0000133 biolink:NamedThing 39-year-old human stage Adult stage that refers to an adult who is over 39 and under 40. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020640 biolink:NamedThing autoimmune encephalitis Inflammation of the brain secondary to an immune response triggered by the body itself. tmpak2llvmy_mondo_relaxed.owl autoimmune encephalitis NCIT:C122414|GARD:0011979|SCTID:95643007 owl:Class HGNC:20772 biolink:NamedThing TUBB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000586 biolink:NamedThing autoimmune disease of exocrine system A hypersensitivity reaction type II disease that involves the exocrine system. tmpak2llvmy_mondo_relaxed.owl exocrine system autoimmune disease|exocrine system hypersensitivity reaction type II disease DOID:0060029 owl:Class MONDO:0013727 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 1 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene. tmpak2llvmy_mondo_relaxed.owl embryonic loss, recurrent|stillbirth, recurrent|RPRGL1|F5 pregnancy loss, recurrent, susceptibility|Rpl|pregnancy loss, recurrent, susceptibility caused by mutation in F5|Rprgl|pregnancy loss, recurrent, susceptibility to, 1|pregnancy loss, recurrent, susceptibility to, type 1|fetal loss, recurrent, susceptibility to|abortion, spontaneous, recurrent|miscarriage, recurrent OMIM:614389|EFO:0008899 owl:Class HGNC:3542 biolink:NamedThing F5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7603 biolink:NamedThing MYO5B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055074 biolink:NamedThing calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl regulation of calcium ion concentration owl:Class UBERON:0004997 biolink:NamedThing mucosa of pyloric antrum A mucosa that is part of a pyloric antrum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl antrum of stomach organ mucosa|stomach pyloric antrum mucous membrane|organ mucosa of stomach pyloric antrum|mucosa of organ of stomach pyloric antrum|mucosa of organ of antrum of stomach|pyloric antrum mucous membrane|stomach pyloric antrum mucosa of organ|mucous membrane of pyloric antrum|antrum of stomach mucosa|gastric antrum mucosa|mucosa of stomach pyloric antrum|mucosa of antrum of stomach|antral mucosa|pyloric antrum organ mucosa|antrum of stomach mucosa of organ|antrum of stomach mucous membrane|organ mucosa of antrum of stomach|stomach pyloric antrum organ mucosa|mucous membrane of antrum of stomach|stomach pyloric antrum mucosa|pyloric antrum mucosa|pyloric antrum mucosa of organ|mucosa of organ of pyloric antrum|organ mucosa of pyloric antrum|mucous membrane of stomach pyloric antrum owl:Class UBERON:0001165 biolink:NamedThing pyloric antrum the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells tmpak2llvmy_mondo_relaxed.owl antrum of Willis|stomach antrum|antrum|antrum pyloricum|gastric antrum|antrum pylori|stomach pyloric antrum|antrum of stomach owl:Class CHEBI:30746 biolink:NamedThing benzoic acid A compound comprising a benzene ring core carrying a carboxylic acid substituent. tmpak2llvmy_mondo_relaxed.owl benzoic acid|Benzeneformic acid|Benzenecarboxylic acid|BENZOIC ACID|E210|Dracylic acid|Phenylformic acid|Benzoesaeure|Phenylcarboxylic acid|acide benzoique|Benzenemethanoic acid|Benzoic acid|Aromatic carboxylic acid owl:Class UBERON:0000167 biolink:NamedThing oral cavity Anatomical cavity at the start of the digestive tract that that is enclosed by the mouth. The boundaries and contents vary depending on the species. In vertebrates, the boundaries are the oral opening, the cheeks, the palate and (if present) the palatoglossal arch - if this is not present then the mouth and pharynx form the oropharyngeal cavity. The buccal cavity contains the teeth, tongue and palate (when present) tmpak2llvmy_mondo_relaxed.owl buccal cavity|cavity of mouth|bucca owl:Class ENVO:01000281 biolink:NamedThing layer A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036521 biolink:NamedThing wall of urethra tmpak2llvmy_mondo_relaxed.owl urethral wall owl:Class GO:1903649 biolink:NamedThing regulation of cytoplasmic transport Any process that modulates the frequency, rate or extent of cytoplasmic transport. tmpak2llvmy_mondo_relaxed.owl regulation of cytoplasmic streaming owl:Class GO:0016482 biolink:NamedThing cytosolic transport The directed movement of substances or organelles within the cytosol. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003142 biolink:NamedThing intracranial primitive neuroectodermal tumor A primitive neuroectodermal tumor that involves the brain. tmpak2llvmy_mondo_relaxed.owl intracranial PNET|intracranial primitive neuroectodermal tumor|brain primitive neuroectodermal tumor|primitive neuroectodermal tumor of brain|intracranial primitive neuroectodermal neoplasm UMLS:C1334246|DOID:4788|NCIT:C5817 owl:Class OBO:CHR_9606-chr10q biolink:NamedThing chr10q (Human) tmpak2llvmy_mondo_relaxed.owl 133797422 39800000 hg38 owl:Class CL:0000307 biolink:NamedThing tracheal epithelial cell An epithelial cell found in the trachea. tmpak2llvmy_mondo_relaxed.owl tracheocyte FMA:74793 This class is for the vertebrate tracheal structure. For the analagous insect cell type, see 'respiratory tube epithelial cell' CL:1000474 cell owl:Class MONDO:0008021 biolink:NamedThing Cowden syndrome 1 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. tmpak2llvmy_mondo_relaxed.owl cerebelloparenchymal disorder 6|Proteus-like syndrome|PTEN Cowden disease|Cowden syndrome 1|CS|dysplastic gangliocytoma of the cerebellum|Cowden syndrome type 1|cerebellar granule cell Hypertrophy and megalencephaly|CWS1|Cowden disease caused by mutation in PTEN|Lhermitte-Duclos disease|multiple hamartoma syndrome OMIM:158350|UMLS:CN072330 owl:Class HGNC:9588 biolink:NamedThing PTEN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012071 biolink:NamedThing palate bone Any bone that is part of a palate. tmpak2llvmy_mondo_relaxed.owl palatal bone owl:Class HGNC:25223 biolink:NamedThing COQ2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022284 biolink:NamedThing lacrimal gland bud the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation (Int Rev Cytol. 1996;168:1-80. Cell biology of the harderian gland) tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001750 biolink:NamedThing lacrimal apparatus A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. tmpak2llvmy_mondo_relaxed.owl apparatus lacrimalis|lacrimal drainage system|lacrymal system|nasolacrimal system|nasolacrimal drainage system owl:Class MONDO:0013736 biolink:NamedThing myopathy, centronuclear, 3 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant centronuclear myopathy caused by mutation in MYF6|myopathy, centronuclear, type 3|MYF6 autosomal dominant centronuclear myopathy|myopathy, centronuclear, 3|CNM3 UMLS:C3280703|OMIM:614408 owl:Class MONDO:0000986 biolink:NamedThing pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. tmpak2llvmy_mondo_relaxed.owl pleuritis|inflammation of pleura|pleura inflammation SCTID:196075003|ICD9:511.8|ICD10:R09.1|UMLS:C0032231|NCIT:C26860|MESH:D010998|EFO:1001825|DOID:10247 owl:Class HP:0002090 biolink:NamedThing Pneumonia Inflammation of any part of the lung parenchyma. tmpak2llvmy_mondo_relaxed.owl Pneumonia SNOMEDCT_US:233604007|MSH:D011014|UMLS:C0032285 human_phenotype owl:Class MONDO:0005987 biolink:NamedThing toxascariasis Infections with nematodes of the genus toxascaris. tmpak2llvmy_mondo_relaxed.owl Toxascaris caused disease or disorder|Toxascaris disease or disorder|Toxascaris infectious disease UMLS:C0040522|DOID:3107|MESH:D017227|EFO:0007515 owl:Class NCBITaxon:59263 biolink:NamedThing Toxascaris tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002413 biolink:NamedThing glycogen storage disease I Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. tmpak2llvmy_mondo_relaxed.owl von Gierke's disease|GSD1|G6P deficiency|glycogen storage disease type 1|hepatorenal glycogenosis|glycogen storage disease due to glucose-6-phosphatase deficiency|GSD type I|deficiency of glucose-6-phosphatase|glycogenosis type I|glycogen storage disease, type I|glycogen storage disease type I|GSD type 1|von Gierke disease|glycogen storage disease due to G6P deficiency|glycogen storage disease I|GSD due to G6P deficiency|glycogenosis type 1 MESH:D005953|NCIT:C84733|Orphanet:364|ICD10:E74.0|DOID:2749|SCTID:7265005|ICD10:E74.01|MedDRA:10018464 MONDO:0018220 owl:Class HP:0002240 biolink:NamedThing Hepatomegaly Abnormally increased size of the liver. tmpak2llvmy_mondo_relaxed.owl Enlarged liver MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209 HP:0001398|HP:0001393 human_phenotype owl:Class UBERON:0003988 biolink:NamedThing thymus corticomedullary boundary The dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells tmpak2llvmy_mondo_relaxed.owl thymic cortico-medullary boundary|thymus cortico-medullary boundary|thymus corticomedullary junction|thymic corticomedullary boundary|thymic corticomedullary zone|thymus corticomedullary zone|thymus CMZ|thymic corticomedullary junction owl:Class MONDO:0015020 biolink:NamedThing intellectual disability, autosomal recessive 59 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. tmpak2llvmy_mondo_relaxed.owl IMPA1 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 59|mental retardation, autosomal recessive type 59|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|mental retardation, autosomal recessive 59|MRT59|intellectual disability, autosomal recessive type 59 OMIM:617323|UMLS:C4310619 owl:Class HGNC:6050 biolink:NamedThing IMPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018489 biolink:NamedThing autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. tmpak2llvmy_mondo_relaxed.owl anti-IgLON5 syndrome|anti-IgLON5 disease Orphanet:420789|SCTID:765751002|ICD10:G04.8|UMLS:CN237490 owl:Class UBERON:0004707 biolink:NamedThing pharyngula stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. tmpak2llvmy_mondo_relaxed.owl pharyngula|phylotypic stage owl:Class MONDO:0014233 biolink:NamedThing early-onset Parkinson disease 20 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. tmpak2llvmy_mondo_relaxed.owl SYNJ1 Parkinson disease|early-onset Parkinson disease type 20|Parkinson disease caused by mutation in SYNJ1|PARK20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset DOID:0060898|UMLS:C3809824|OMIM:615530 owl:Class HGNC:11503 biolink:NamedThing SYNJ1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008338 biolink:NamedThing plantar part of pes The sole is the bottom of the foot. tmpak2llvmy_mondo_relaxed.owl sole|sole of foot|planta|sole of the foot|soles of the feet|pelma|regio plantaris|plantar region|plantar part of foot owl:Class OBO:CHR_9606-chr6q16 biolink:NamedThing chr6q16 (Human) tmpak2llvmy_mondo_relaxed.owl 105000000 92500000 hg38 owl:Class OBO:CHR_9606-chr6q1 biolink:NamedThing chr6q1 (Human) tmpak2llvmy_mondo_relaxed.owl 105000000 59800000 hg38 owl:Class UBERON:0001440 biolink:NamedThing forelimb skeleton The collection of all skeletal elements in a free forelimb region. Excludes the pectoral girdle tmpak2llvmy_mondo_relaxed.owl set of bones of upper limb|skeleton of pectoral limb|skeleton of forelimb|wing skeleton|ossa membri superioris|free upper limb skeleton|skeleton of free upper limb|pectoral limb skeleton|fore limb skeleton|bones of upper limb|upper limb skeleton|forelimb skeleton|skeleton of upper limb owl:Class UBERON:0011094 biolink:NamedThing vertebra cartilage element The cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral cartilage condensation owl:Class MONDO:0010492 biolink:NamedThing pituitary adenoma, growth hormone-secreting, 2 Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. tmpak2llvmy_mondo_relaxed.owl pituitary adenoma 2, Growth hormone-secreting|pituitary adenoma, growth hormone-secreting, 2|pituitary adenoma 2, growth hormone-secreting|pituitary gland adenoma caused by mutation in GPR101|PITA2|pituitary adenoma, Growth hormone-secreting, type 2|acromegaly, X-linked|acromegaly due to pituitary adenoma 2|GPR101 pituitary gland adenoma|PAGH2 OMIM:300943|UMLS:C4012409 owl:Class HGNC:14963 biolink:NamedThing GPR101 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017639 biolink:NamedThing carbon monoxide-induced parkinsonism tmpak2llvmy_mondo_relaxed.owl CO-induced parkinsonism SCTID:230293003|Orphanet:306686|ICD10:G21.2|UMLS:C0393565 owl:Class MONDO:0009982 biolink:NamedThing retinitis pigmentosa inversa with deafness tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa inversa with deafness OMIM:268010|UMLS:C1849405|MESH:C564842 owl:Class HP:0000365 biolink:NamedThing Hearing impairment A decreased magnitude of the sensory perception of sound. tmpak2llvmy_mondo_relaxed.owl Hearing loss|Hypoacusis|Deafness|Hearing impairment|Hypacusis|Hearing defect SNOMEDCT_US:95828007|MSH:D003638|UMLS:C1384666|Fyler:4868|UMLS:C0011053|MSH:D034381|SNOMEDCT_US:103276001|SNOMEDCT_US:343087000|SNOMEDCT_US:15188001|UMLS:C0018772|UMLS:C0339789 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. HP:0008560|HP:0001754|HP:0008563|HP:0001729|HP:0000404|HP:0001728 human_phenotype owl:Class HGNC:2918 biolink:NamedThing DLX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005179 biolink:NamedThing ovarian adenoma benign A benign adenoma of ovary tmpak2llvmy_mondo_relaxed.owl EFO:0002507 owl:Class UBERON:0002668 biolink:NamedThing oculomotor nerve root Initial segment of the occulomotor nerve as it leaves the midbrain. tmpak2llvmy_mondo_relaxed.owl 3nf|central part of oculomotor nerve|root of oculomotor nerve|oculomotor nerve tract|fibrae nervi oculomotorii|oculomotor nerve fibers owl:Class MONDO:0000510 biolink:NamedThing synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] tmpak2llvmy_mondo_relaxed.owl alpha synucleinopathies|synucleinopathies DOID:0050890 owl:Class HGNC:11138 biolink:NamedThing SNCA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045926 biolink:NamedThing negative regulation of growth Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpak2llvmy_mondo_relaxed.owl down regulation of growth|down-regulation of growth|inhibition of growth|downregulation of growth owl:Class GO:0040007 biolink:NamedThing growth The increase in size or mass of an entire organism, a part of an organism or a cell. tmpak2llvmy_mondo_relaxed.owl growth pattern|non-developmental growth owl:Class UBERON:0010851 biolink:NamedThing fibula cartilage element A cartilaginous condensation that has the potential to develop into a fibula. tmpak2llvmy_mondo_relaxed.owl fibulra cartilage condensation|fibulal cartilage condensation|fibular cartilage condensation owl:Class MONDO:0001884 biolink:NamedThing abducens nerve neoplasm A neoplasm involving a abducens nerve. tmpak2llvmy_mondo_relaxed.owl abducens nerve tumors|abducens nerve tumor|tumor of abducens nerve|abducens nerve neoplasms|tumor of sixth cranial nerve|abducens nerve neoplasm (disease)|tumor of the sixth cranial nerve|tumor of the abducens nerve|sixth cranial nerve neoplasms|VIth cranial nerve neoplasms|neoplasm of the abducens nerve|neoplasm of abducens nerve|sixth cranial nerve tumors|sixth cranial nerve neoplasm|sixth cranial nerve tumor|neoplasm of sixth cranial nerve|neoplasm of the sixth cranial nerve|VIth cranial nerve tumors UMLS:C1263898|DOID:14125|NCIT:C5826|SCTID:126972009|ICD9:239.7 owl:Class MONDO:0021127 biolink:NamedThing has a syndromic presentation An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030764 biolink:NamedThing Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:410042009|MSH:D009794|UMLS:C0028817 human_phenotype owl:Class MONDO:0020787 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 1 tmpak2llvmy_mondo_relaxed.owl HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1|HOMGSMR1 OMIM:616418 owl:Class HGNC:103 biolink:NamedThing CNNM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000242 biolink:NamedThing tinea barbae A dermatophytosis that involves the beard. tmpak2llvmy_mondo_relaxed.owl dermatophytosis of beard|beard dermatophytosis DOID:0050096|UMLS:C2349994|SCTID:399329002 owl:Class NCBITaxon:63417 biolink:NamedThing Trichophyton verrucosum tmpak2llvmy_mondo_relaxed.owl Ectotrichophyton verrucosum|Favotrichophyton verrucosum GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001758 biolink:NamedThing periodontium The tissues that invest or help to invest and support the teeth, including the periodontal ligament, gingivae, cementum, and alveolar and supporting bone[BTO]. tmpak2llvmy_mondo_relaxed.owl tooth supporting structure|paradentium|periodontal ligament|periodontal membrane owl:Class HGNC:3435 biolink:NamedThing ERCC3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035825 biolink:NamedThing left adrenal gland cortex the thick outer layer of the adrenal gland that is in the left side of the abdomen tmpak2llvmy_mondo_relaxed.owl cortex of left suprarenal gland|left adrenal cortex|cortex of left adrenal gland owl:Class UBERON:0001234 biolink:NamedThing left adrenal gland An adrenal gland that is in the left side of the abdomen tmpak2llvmy_mondo_relaxed.owl left suprarenal gland|glandula suprarenalis sinister owl:Class CL:0000881 biolink:NamedThing perivascular macrophage A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+. tmpak2llvmy_mondo_relaxed.owl Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. cell owl:Class MONDO:0001406 biolink:NamedThing peripheral nervous system neoplasm A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. tmpak2llvmy_mondo_relaxed.owl tumor of PNS|CNS-excluded nervous sys. cancer|tumor of the PNS|peripheral nerve neoplasm|peripheral nervous system neoplasm (disease)|tumor of the peripheral nerve|PNS tumor|PNS neoplasm|neoplasm of peripheral nerve|peripheral nervous system neoplasm|neoplasm of PNS|peripheral nervous system tumor|nerve sheath tumors|peripheral nerve tumor|neoplasms, peripheral nervous system|tumor of the peripheral nervous system|nerve sheath neoplasm|neoplasm of the peripheral nervous system|PNS neoplasms|tumor of peripheral nerve|neoplasm of the peripheral nerve|tumor of peripheral nervous system|neoplasms, PNS|neoplasm of the PNS|neoplasm of peripheral nervous system SCTID:126980002|NCIT:C3321|MESH:D010524|ONCOTREE:PNS|DOID:1192|ICD9:239.2|UMLS:C0031118 owl:Class GO:0000280 biolink:NamedThing nuclear division The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. tmpak2llvmy_mondo_relaxed.owl karyokinesis owl:Class MONDO:0034217 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta tmpak2llvmy_mondo_relaxed.owl ICD10:E07.8|Orphanet:566243 owl:Class HGNC:11799 biolink:NamedThing THRB tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p2 biolink:NamedThing chr2p2 (Human) tmpak2llvmy_mondo_relaxed.owl 47500000 0 hg38 owl:Class MONDO:0021109 biolink:NamedThing inverted urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. tmpak2llvmy_mondo_relaxed.owl inverted urothelial papilloma|urothelium inverted papilloma|urinary tract inverted papilloma|inverted papilloma of urinary tract|IUP UMLS:C1334282|ONCOTREE:IUP|NCIT:C6192 owl:Class MONDO:0012483 biolink:NamedThing cone-rod dystrophy 11 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene. tmpak2llvmy_mondo_relaxed.owl CORD11|RAX2 cone-rod dystrophy|cone-rod dystrophy 11|cone-rod dystrophy type 11|cone-rod dystrophy caused by mutation in RAX2 UMLS:C1835865|MESH:C563671|OMIM:610381|DOID:0111018 owl:Class MONDO:0014899 biolink:NamedThing adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal recessive 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|PEOB4 ICD10:G71.3|UMLS:C4310733|Orphanet:329314|DOID:0111516|SCTID:733599009|OMIM:617070 owl:Class HGNC:2858 biolink:NamedThing DGUOK tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003417 biolink:NamedThing mesenchyme of soft palate Mesenchyme that is part of a developing soft palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl soft palate mesenchyme owl:Class MONDO:0040678 biolink:NamedThing infiltrating urothelial carcinoma A invasive carcinoma that involves the urothelium. tmpak2llvmy_mondo_relaxed.owl infiltrating urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary tract NCIT:C39853|UMLS:C1512751 owl:Class MONDO:0033135 biolink:NamedThing Charcot-Marie-Tooth disease, demyelinating, type 1G A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. tmpak2llvmy_mondo_relaxed.owl PMP2-related Charcot-Marie-Tooth disease type 1|CMT1G|Charcot-Marie-Tooth disease, demyelinating, type 1G Orphanet:476394|DOID:0111560|OMIM:618279 owl:Class HGNC:9117 biolink:NamedThing PMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004536 biolink:NamedThing lymph vasculature A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep. tmpak2llvmy_mondo_relaxed.owl trunci et ductus lymphatici|lymphatic vessel network|set of lymphatic vessels|lymphatic vasculature|lymphatic trunks and ducts|lymphatic vessels set|lymph vessels owl:Class MONDO:0000333 biolink:NamedThing early congenital syphilis A congenital syphilis that is manifested between 0 and 2 years old. tmpak2llvmy_mondo_relaxed.owl Early congenital syphilis (less than 2 years) DOID:0050488|SCTID:4359001|UMLS:C0275859|ICD9:090.2 owl:Class HP:0001287 biolink:NamedThing Meningitis Inflammation of the meninges. tmpak2llvmy_mondo_relaxed.owl UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009 human_phenotype owl:Class MONDO:0015718 biolink:NamedThing mosaic trisomy 12 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 12 mosaicism|Mosaic trisomy chromosome 12|Mosaic trisomy type 12 GARD:0005304|ICD10:Q92.1|SCTID:764463001|Orphanet:1698|UMLS:CN073989 owl:Class MONDO:0011153 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 2 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. tmpak2llvmy_mondo_relaxed.owl persistent hyperinsulinemic hypoglycemia of infancy|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia, persistent|hyperinsulinism, familial|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, 2|Nesidioblastosis|hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|hyperinsulinemic hypoglycemia familial 2|HHF2|hyperinsulinemic hypoglycemia, familial, type 2|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinism, neonatal GARD:0009927|DOID:0070218|UMLS:C2931833|OMIM:601820 https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 owl:Class UBERON:0010532 biolink:NamedThing primitive nephron An epithelial tube that is fated to become a nephron. tmpak2llvmy_mondo_relaxed.owl developing nephron|future nephron|primitive nephron|presumptive nephron owl:Class ECTO:0001057 biolink:NamedThing exposure to decreased temperature A exposure event involving the interaction of an exposure receptor to decreased temperature. tmpak2llvmy_mondo_relaxed.owl decreased temperature exposure owl:Class UBERON:0012332 biolink:NamedThing broad ligament of uterus A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis. tmpak2llvmy_mondo_relaxed.owl ligamentum latum uteri|broad uterine ligament|broad ligament owl:Class UBERON:0006264 biolink:NamedThing mouth-foregut junction An anatomical junctions that overlaps the mouth and foregut. tmpak2llvmy_mondo_relaxed.owl owl:Class Na10157ad156d4600bd650ac533e6af2f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0002072 biolink:NamedThing hypodermis Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. tmpak2llvmy_mondo_relaxed.owl subcutis|subtegumental tissue|superficial fascia|sub-tegumental tissue|tela subcutanea|vertebrate hypodermis|hypoderm|subcutaneous tissue owl:Class CHEBI:33302 biolink:NamedThing pnictogen molecular entity A p-block molecular entity containing any pnictogen. tmpak2llvmy_mondo_relaxed.owl pnictogen molecular entity|pnictogen molecular entities owl:Class CHEBI:33300 biolink:NamedThing pnictogen Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. tmpak2llvmy_mondo_relaxed.owl nitrogenoideos|pnictogene|group V elements|group 15 elements|pnictogens|pnictogenes|nitrogenoides owl:Class MONDO:0001302 biolink:NamedThing hypertensive heart disease Abnormal enlargement of the heart resulting from long-standing hypertension. tmpak2llvmy_mondo_relaxed.owl hypertensive heart disease|hypertensive cardiomegaly|hypertensive cardiopathy|hypertensive cardiovascular disease NCIT:C4907|UMLS:C0152105|DOID:11516|ICD9:402|ICD9:402.9|ICD10:I11|ICD10:I11.9|SCTID:64715009 owl:Class MONDO:0010797 biolink:NamedThing Pearson syndrome Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. tmpak2llvmy_mondo_relaxed.owl sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|Pearson marrow-pancreas syndrome|Pearson's syndrome|Pearson's marrow/pancreas syndrome|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly) MedDRA:10062941|ICD10:D64.0|OMIM:557000|DOID:0060067|SCTID:237985009|ICD9:277.87|UMLS:C0342784|NCIT:C115326|GARD:0007343|Orphanet:699 https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome owl:Class MONDO:0015200 biolink:NamedThing anisakiasis Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. tmpak2llvmy_mondo_relaxed.owl Anisakis simplex infection|Pseudoterranova infection|infection by Anisakis larva|Anisakis infection|Anisakiases|infections, Anisakis simplex ICD10:B81.0|ICD9:127.1|Orphanet:1070|GARD:0000693|NCIT:C128393|MedDRA:10002533|SCTID:442652006|UMLS:C0162576|DOID:7033|EFO:0007146|MESH:D017129 https://rarediseases.info.nih.gov/diseases/693/anisakiasis owl:Class MONDO:0007243 biolink:NamedThing Burkitt lymphoma Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl Burkitt's tumor|Burkitt lymphoma/leukaemia|BL|malignant lymphoma, Burkitt's type|Burkitt's lymphoma|small non-cleaved cell lymphoma, Burkitt's type|Burkitt's tumor or lymphoma|small non-cleaved cell lymphoma|Burkitt lymphoma EFO:0000309|ONCOTREE:BL|UMLS:C0006413|ICD10:C83.7|ICD9:200.2|OMIM:113970|MESH:D002051|GARD:0005973|DOID:8584|ICDO:9687/3|MedDRA:10053518|ICD10:C83.70|NCIT:C2912|Orphanet:543|SCTID:118617000|MedDRA:10006595|MedDRA:10067184 owl:Class HGNC:7553 biolink:NamedThing MYC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032910 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 34 tmpak2llvmy_mondo_relaxed.owl MC1DN34|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 OMIM:618776 owl:Class HGNC:33551 biolink:NamedThing NDUFAF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016861 biolink:NamedThing Alagille syndrome due to 20p12 microdeletion tmpak2llvmy_mondo_relaxed.owl Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12|Alagille-Watson syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12 Orphanet:261600|ICD10:Q44.7|UMLS:CN202205 owl:Class MONDO:0020106 biolink:NamedThing hemolytic anemia due to a disorder of glycolytic enzymes tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98372|ICD10:D55.2|UMLS:CN227783 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class GO:0093001 biolink:NamedThing glycolysis from storage polysaccharide through glucose-1-phosphate The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015975 biolink:NamedThing hyper-IgM syndrome with susceptibility to opportunistic infections tmpak2llvmy_mondo_relaxed.owl HIGM with susceptibility to opportunistic infections ICD10:D80.5|UMLS:CN200572|Orphanet:183663 owl:Class ENVO:04000003 biolink:NamedThing concentration of carbon dioxide in soil The concentration of carbon dioxide when measured in soil. tmpak2llvmy_mondo_relaxed.owl owl:Class N3732e33d29d84f52ae358a9934e7f0b3 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004168 biolink:NamedThing cribriform variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. tmpak2llvmy_mondo_relaxed.owl testicular seminoma, cribriform variant UMLS:C1515292|NCIT:C40957|DOID:7269 owl:Class NCIT:C35920 biolink:NamedThing Cribriform Pattern tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002135 biolink:NamedThing mitral valve An atrioventricular valve that is part of the outflow part of the left atrium. tmpak2llvmy_mondo_relaxed.owl left atrioventricular valve|bicuspid valve|valva atrioventricularis sinistra|valva mitralis owl:Class UBERON:0016884 biolink:NamedThing shoulder joint The joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone). Commonly thought of as a single joint, the shoulder is actually made up of two separate joints - the glenohumeral and acromioclavicular joints tmpak2llvmy_mondo_relaxed.owl joint of shoulder region owl:Class UBERON:0003247 biolink:NamedThing epithelium of forearm An epithelium that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forearm epithelium owl:Class UBERON:0003372 biolink:NamedThing pectoral appendage bud ectoderm An unilaminar epithelium that surrounds a pectoral appendage bud. tmpak2llvmy_mondo_relaxed.owl wing ectoderm|pectoral fin bud ectoderm|upper limb bud ectoderm|forelimb bud ectoderm|arm ectoderm|forelimb ectoderm owl:Class UBERON:0013507 biolink:NamedThing thoracic vertebra cartilage element A thoracic vertebra endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl thoracic vertebral cartilage condensation group owl:Class MONDO:0100147 biolink:NamedThing SATB2 associated disorder A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. tmpak2llvmy_mondo_relaxed.owl SATB2 associated disorder http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:21637 biolink:NamedThing SATB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002636 biolink:NamedThing accessory nerve disease A disease involving the accessory XI nerve. tmpak2llvmy_mondo_relaxed.owl eleventh nerve disorder|disorder of accessory nerve|disorder of accessory XI nerve|disorder of accessory [11th] nerve|disease of accessory XI nerve|accessory XI nerve disease|disorder of 11th nerve|accessory nerve disorder|disorder of the 11th nerve|disease or disorder of accessory XI nerve|accessory XI nerve disease or disorder DOID:339|ICD9:352.4|SCTID:84759007|NCIT:C26953|UMLS:C0152180|MESH:D020436 owl:Class UBERON:0016540 biolink:NamedThing occipital cortex tmpak2llvmy_mondo_relaxed.owl gray matter of occipital lobe|occipital neocortex|occipital lobe cortex|cortex of occipital lobe owl:Class MONDO:0005938 biolink:NamedThing renal tuberculosis Infection of the kidney due to mycobacteria. tmpak2llvmy_mondo_relaxed.owl kidney tuberculosis|tuberculosis of kidney SCTID:44323002|ICD9:016.0|NCIT:C123020|EFO:0007463|DOID:9733|UMLS:C0041328|ICD9:016.00|MESH:D014398 owl:Class OBO:CHR_9606-chr16q24 biolink:NamedThing chr16q24 (Human) tmpak2llvmy_mondo_relaxed.owl 90338345 84100000 hg38 owl:Class HGNC:16001 biolink:NamedThing SUGCT tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30858 biolink:NamedThing EFTUD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011797 biolink:NamedThing infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. tmpak2llvmy_mondo_relaxed.owl spastic paralysis, infantile onset ascending|IAHSP|spastic paralysis, infantile-onset ascending UMLS:C2931441|MESH:C537217|ICD10:G12.2|SCTID:703543005|Orphanet:293168|ICD9:343.8|GARD:0004914|OMIM:607225 https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis owl:Class HGNC:443 biolink:NamedThing ALS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012378 biolink:NamedThing muscle layer of urinary bladder A muscular coat that is part of a urinary bladder. tmpak2llvmy_mondo_relaxed.owl muscular coat of urinary bladder|muscular layer of bladder|tunica musculari vesicae|muscular layer of urinary bladder|tunica muscularis (vesica urinaria)|bladder muscular coat|muscular coat of bladder|muscle layer of urinary bladder owl:Class UBERON:0001256 biolink:NamedThing wall of urinary bladder An anatomical wall that lines the insider of a urinary bladder. tmpak2llvmy_mondo_relaxed.owl bladder anatomical wall|anatomical wall of urinary bladder|urinary bladder anatomical wall|bladder wall|wall of bladder|anatomical wall of bladder|urinary bladder wall owl:Class MONDO:0021462 biolink:NamedThing benign neoplasm of rectum A benign neoplasm that involves the rectum. tmpak2llvmy_mondo_relaxed.owl rectum benign neoplasm|benign neoplasm of the rectum|benign rectal neoplasms|rectal neoplasms, benign|rectal tumors, benign|benign tumor of rectum|benign rectal tumors|benign rectal neoplasm|benign rectal tumor|benign tumor of the rectum UMLS:C0496867|NCIT:C4774|ICD10:D12.8|SCTID:92318000 owl:Class UBERON:0016490 biolink:NamedThing auditory system is the sensory system for the sense of hearing. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002105 biolink:NamedThing vestibulo-auditory system Sensory system responsible for the perception of spatial orientation and auditory stimuli. tmpak2llvmy_mondo_relaxed.owl auditory organ system|vestibuloauditory system|auditory system|auditory/vestibular system owl:Class UBERON:0001332 biolink:NamedThing prepuce of penis A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. tmpak2llvmy_mondo_relaxed.owl penile prepuce|preputium|praeputium|prepuce|prepucium|foreskin|preputium penis|prepuce of male owl:Class UBERON:0001299 biolink:NamedThing glans penis the conic expansion of the corpus spongiosum that forms the head of the penis tmpak2llvmy_mondo_relaxed.owl coronal sulcus|glans|balanus owl:Class MONDO:0011461 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 2 Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene. tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 3A|Gefs+, type 2|generalized epilepsy with febrile seizures plus, type 2|febrile seizures, familial caused by mutation in SCN1A|GEFSP2|SCN1A febrile seizures, familial MESH:C565810|OMIM:604403|UMLS:C1858673|DOID:0111294 owl:Class HGNC:10585 biolink:NamedThing SCN1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005631 biolink:NamedThing extraembryonic membrane Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013082 biolink:NamedThing Hirschsprung disease-ganglioneuroblastoma syndrome tmpak2llvmy_mondo_relaxed.owl neuroblastoma with Hirschsprung disease|NBLST2|Hirschsprung disease ganglioneuroblastoma|neuroblastoma, susceptibility to, 2|susceptibility to neuroblastoma 2|neuroblastoma, susceptibility to, type 2 Orphanet:2151|GARD:0002695|ICD10:Q43.1|UMLS:C2751683|MESH:C538119|OMIM:613013 owl:Class HGNC:9143 biolink:NamedThing PHOX2B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011093 biolink:NamedThing left pelvic girdle region A pelvic girdle region that is in the left side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl left pelvic girdle owl:Class MONDO:0004548 biolink:NamedThing adult type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. tmpak2llvmy_mondo_relaxed.owl adult type testicular granulosa cell tumor|adult testicular granulosa cell tumor UMLS:C1515284|NCIT:C39946|DOID:8394 owl:Class UBERON:0001167 biolink:NamedThing wall of stomach the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between tmpak2llvmy_mondo_relaxed.owl gastric wall|stomach anatomical wall|anatomical wall of ventriculus|ventriculus anatomical wall|stomach wall|ventriculus wall|anatomical wall of stomach|wall of ventriculus owl:Class MONDO:0004586 biolink:NamedThing rheumatoid lung disease Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. tmpak2llvmy_mondo_relaxed.owl rheumatoid lung DOID:849|ICD9:714.81|SCTID:398726004|UMLS:C0994344 owl:Class HGNC:37234 biolink:NamedThing TMEM231 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001817 biolink:NamedThing acute closed-angle glaucoma Acute form of angle-closure glaucoma. tmpak2llvmy_mondo_relaxed.owl angle-closure glaucoma, acute|acute angle-closure glaucoma ICD9:365.22|ICD10:H40.21|UMLS:C0154946|DOID:13862|SCTID:30041005 owl:Class MONDO:0019569 biolink:NamedThing Cockayne syndrome type 1 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. tmpak2llvmy_mondo_relaxed.owl Cockayne syndrome caused by mutation in ERCC8|Cockayne syndrome type 1|Cockayne syndrome type I|CSA|Cockayne syndrome classical|Cockayne syndrome type A|Cockayne syndrome A|Cockayne syndrome type a|ERCC8 Cockayne syndrome|Cockayne syndrome classic form UMLS:C0751039|NCIT:C135725|ICD10:Q87.8|OMIM:216400|Orphanet:90321|GARD:0001415 https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i owl:Class HGNC:3439 biolink:NamedThing ERCC8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011264 biolink:NamedThing torsion dystonia 6 Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. tmpak2llvmy_mondo_relaxed.owl generalized isolated dystonia caused by mutation in THAP1|primary dystonia, DYT6 type|idiopathic torsion dystonia of mixed type|dystonia 6|THAP1 generalized isolated dystonia|DYT6|torsion dystonia type 6|DYT-THAP1|adolescent-onset dystonia of mixed type|torsion dystonia adult onset mixed type|torsion dystonia, adult-onset, mixed type|generalized cervical and upper-limb-onset dystonia|dystonia 6, torsion UMLS:C1414216|DOID:0090039|OMIM:602629|Orphanet:98806|ICD10:G24.1|GARD:0009630|MESH:C538003|SCTID:702448007 owl:Class HGNC:20856 biolink:NamedThing THAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006878 biolink:NamedThing Moraxellaceae infectious disease Infections with bacteria of the family moraxellaceae. tmpak2llvmy_mondo_relaxed.owl infections, Psychobacter|infections, Moraxellaceae|Moraxellaceae disease or disorder|Moraxella infections|infections, Moraxella|Psychobacter infections|infection, Moraxellaceae|Moraxellaceae infection|infection, Moraxella|Psychobacter infection|infection, Psychobacter|Moraxellaceae caused disease or disorder|Moraxella infection MESH:D045828|EFO:1001072 owl:Class NCBITaxon:468 biolink:NamedThing Moraxellaceae tmpak2llvmy_mondo_relaxed.owl Branhamaceae|Acinetobacteraceae PMID:9542079|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0005042 biolink:NamedThing inner epithelial layer of tympanic membrane A portion of the tympanic cavity epithelium which makes up the outer (cuticular) layer of the tympanic membrane tmpak2llvmy_mondo_relaxed.owl mucous stratum of tympanic membrane|tympanic membrane external middle ear cavity epithelial component|tympanic membrane mucosa|mucosa of tympanic membrane|mucous layer of tympanic membrane owl:Class MONDO:0010706 biolink:NamedThing premature ovarian failure 1 Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 1|Pof1|FMR1-related premature ovarian failure|idiopathic familial premature ovarian failure|fragile X-associated primary ovarian insufficiency|premature ovarian failure, X-linked|hypergonadotropic ovarian failure, X-linked|premature ovarian failure type 1|FMR1-related primary ovarian insufficiency|FMR1 primary ovarian failure|familial premature ovarian failure|primary ovarian failure caused by mutation in FMR1|ovarian failure, premature ICD9:256.39|OMIM:311360|GARD:0004480 owl:Class MONDO:0002839 biolink:NamedThing leather-bottle stomach A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl linitis plastica (morphologic abnormality)|linitis plastica ICDO:8142/3|MESH:D008039|DOID:4023|NCIT:C3190|UMLS:C0023743 owl:Class MONDO:0009605 biolink:NamedThing methemoglobinemia type 4 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. tmpak2llvmy_mondo_relaxed.owl isolated 17,20-lyase deficiency, Pure|methemoglobinemia and ambiguous genitalia|METAG|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia type IV|methemoglobinemia type 4|methemoglobinemia caused by mutation in CYB5A|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia type IV, formerly|CYB5A methemoglobinemia OMIM:250790|MESH:C567102|UMLS:C2673427 owl:Class HGNC:2570 biolink:NamedThing CYB5A tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p13 biolink:NamedThing chr20p13 (Human) tmpak2llvmy_mondo_relaxed.owl 5100000 0 hg38 owl:Class UBERON:0004481 biolink:NamedThing musculature of upper limb Any collection of muscles that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of muscles of free upper limb|muscle group of free upper limb|musculature of free upper limb|free upper limb musculature owl:Class CL:0002535 biolink:NamedThing epithelial cell of cervix An epithelial cell of the cervix. tmpak2llvmy_mondo_relaxed.owl epithelial cell of neck of uterus|cervical canal of uterus epithelial cell|epithelial cell of cervical canal of uterus|epithelial cell of uterine cervix|uterine cervix epithelial cell|epithelial cell of cervical canal|cervical canal epithelial cell|cervix epithelial cell|cervix of uterus epithelial cell|neck of uterus epithelial cell|epithelial cell of cervix of uterus tmeehan 2011-02-24T08:20:08Z cell owl:Class UBERON:0004801 biolink:NamedThing cervix epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cervical canal epithelial tissue|cervical canal epithelium|cervix epithelial tissue|cervical epithelium|epithelium of cervix owl:Class UBERON:0000959 biolink:NamedThing optic chiasma A decussation of the diencephalon where the fibers of the optic nerve cross tmpak2llvmy_mondo_relaxed.owl chiasma|chiasma nervorum opticorum|decussation of optic nerve fibers|optic chiasm|chiasma opticum|optic chiasm (Rufus of Ephesus) owl:Class HGNC:4367 biolink:NamedThing GM2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009401 biolink:NamedThing hyperprolinemia type 2 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. tmpak2llvmy_mondo_relaxed.owl 1-pyrroline-5-carboxylate dehydrogenase deficiency|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|delta1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia type 2|HPII|ALDH4A1 hyperprolinemia|type 2 hyperprolinemia|HYRPRO2|hyperprolinemia caused by mutation in ALDH4A1|hyperprolinemia, type 2|hyperprolinemia, type II OMIM:239510|MedDRA:10058514|DOID:0080543|GARD:0006710|MedDRA:10058512|MESH:C538385|UMLS:C2931835|ICD10:E72.5|Orphanet:79101|SCTID:717181004 https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 owl:Class HGNC:406 biolink:NamedThing ALDH4A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012557 biolink:NamedThing cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. tmpak2llvmy_mondo_relaxed.owl Mpcd|hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|mitochondrial phosphate carrier deficiency SCTID:718713000|ICD10:G71.3|MESH:C563665|Orphanet:91130|UMLS:C1835845|OMIM:610773|UMLS:C4305259 owl:Class HGNC:10989 biolink:NamedThing SLC25A3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000805 biolink:NamedThing immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. tmpak2llvmy_mondo_relaxed.owl immature single positive T lymphocyte|T.ISP.th|immature single positive T cell|immature single positive T-lymphocyte|ISP Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. cell owl:Class PR:000001945 biolink:NamedThing transferrin receptor protein 1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:2002068 biolink:NamedThing lower hypural set Anatomical cluster including hypurals 1 and 2 that supports part of the ventral principal caudal lepidotrichia or rays and that separates from the dorsal hypural set through the hypural diastema. The lower hypural set articulates or fuses to ural centra 1 and 2 (polyural terminology) or ural centrum 1 (diural terminology) depending on the teleost subgroup. The lower hypural set is composed of unpaired median bones. tmpak2llvmy_mondo_relaxed.owl lower hypurals owl:Class UBERON:4000167 biolink:NamedThing caudal fin skeleton Median fin skeleton supporting the caudal fin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014351 biolink:NamedThing pontocerebellar hypoplasia type 9 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|PCH9|pontocerebellar hypoplasia, type 9|AMPD2 non-syndromic pontocerebellar hypoplasia OMIM:615809|ICD10:Q04.3|Orphanet:369920|UMLS:C4014354|DOID:0060278 owl:Class UBERON:0003446 biolink:NamedThing ankle nerve A nerve that is part of an ankle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of ankle|neural network of ankle|tarsal region nerve owl:Class UBERON:0004454 biolink:NamedThing tarsal region mesopodial segment of the pes, including the tarsal skeleton and associated tissues. tmpak2llvmy_mondo_relaxed.owl ankle|ankle region|hind mesopodium|articulatio talocruralis|tarsal limb segment|hind basipodium|hock owl:Class UBERON:0001616 biolink:NamedThing maxillary artery An artery that supplies deep structures of the face. It comes just out behind the neck of the mandible. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl internal maxillary artery|arteria maxillaris owl:Class MONDO:0016463 biolink:NamedThing syndromic agammaglobulinemia A agammaglobulinemia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with agammaglobulinemia|hypogammaglobulinemia|syndromic agammaglobulinemia|syndromic hypogammaglobulinemia NCIT:C26931|Orphanet:229720|UMLS:CN226939 owl:Class UBERON:0001828 biolink:NamedThing gingiva The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. tmpak2llvmy_mondo_relaxed.owl gums|gum tissue|gingival mucosa|gum owl:Class CHEBI:27902 biolink:NamedThing tetracycline A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. tmpak2llvmy_mondo_relaxed.owl tetracyclinum|Achromycin|Deschlorobiomycin|tetracycline|Tsiklomitsin|Liquamycin|Tetrazyklin|Anhydrotetracycline|Tetracyclin|(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Tetracycline|TETRACYCLINE|Abramycin owl:Class MONDO:0009926 biolink:NamedThing autosomal recessive multiple pterygium syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Escobar variant multiple pterygium syndrome|multiple pterygium syndrome, ESCOBAR variant|multiple pterygium syndrome, Nonlethal type|EVMPS|autosomal recessive multiple pterygium syndrome|pterygium universale|multiple pterygium syndrome, autosomal recessive|pterygium Universale|Escobar syndrome|pterygium colli syndrome|multiple pterygium syndrome Escobar type|autosomal recessive non-lethal multiple pterygium syndrome|multiple pterygium syndrome|multiple pterygium syndrome nonlethal type|pterygium syndrome ICD9:759.89|Orphanet:2990|GARD:0007111|UMLS:CN203342|NCIT:C101039|OMIM:265000|SCTID:80773006|ICD10:Q79.8 https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type owl:Class UBERON:0004348 biolink:NamedThing optic eminence The embryonic structure that gives rise to the corneal ectoderm tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014644 biolink:NamedThing hereditary spastic paraplegia 74 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in IBA57|autosomal recessive spastic paraplegia 74|autosomal recessive spastic paraplegia type 74|SPG74|IBA57 hereditary spastic paraplegia|hereditary spastic paraplegia type 74|spastic paraplegia 74, autosomal recessive OMIM:616451|DOID:0110819|UMLS:C4225322|Orphanet:468661 owl:Class HGNC:27302 biolink:NamedThing IBA57 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002461 biolink:NamedThing anterior abdominal wall muscle Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus tmpak2llvmy_mondo_relaxed.owl ventral abdominal wall muscle|muscle of anterior abdominal wall owl:Class GO:0007283 biolink:NamedThing spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. tmpak2llvmy_mondo_relaxed.owl generation of spermatozoa owl:Class MONDO:0011891 biolink:NamedThing febrile seizures, familial, 8 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. tmpak2llvmy_mondo_relaxed.owl ECA2|generalized epilepsy with febrile seizures plus, type 3|epilepsy, childhood absence, susceptibility to, type 2|epilepsy, childhood absence, susceptibility to, 2|GABRG2 generalized epilepsy with febrile seizures plus|GEFSP3|GABRG2 childhood absence epilepsy|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|childhood absence epilepsy caused by mutation in GABRG2|susceptibility to childhood absence epilepsy 2|Gefs+, type 3 OMIM:607681|DOID:0111298|UMLS:C1858674|MESH:C565811|UMLS:C1843244|OMIM:611277 owl:Class UBERON:0008367 biolink:NamedThing breast epithelium An epithelium that is part of a breast. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26926 biolink:NamedThing JAGN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003173 biolink:NamedThing brain stem astrocytic neoplasm An astrocytoma that arises from the brain stem. tmpak2llvmy_mondo_relaxed.owl brain stem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem|brainstem astrocytoma (excluding glioblastoma)|brainstem astrocytoma DOID:4860|NCIT:C7445|UMLS:C1332608|SCTID:107581000119103 owl:Class UBERON:0002298 biolink:NamedThing brainstem Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. tmpak2llvmy_mondo_relaxed.owl truncus encephali|lamina medullaris accessoria|lamella pallidi incompleta|lamina medullaris incompleta pallidi|lamina pallidi incompleta|accessory medullary lamina of pallidum|truncus encephalicus|brain stem owl:Class GO:0002366 biolink:NamedThing leukocyte activation involved in immune response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl immune cell activation during immune response|leukocyte activation during immune response|leucocyte activation during immune response owl:Class MONDO:0010699 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 5 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. tmpak2llvmy_mondo_relaxed.owl X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5|CMTX5|Charcot-Marie-Tooth neuropathy X type 5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|Rosenberg-Chutorian syndrome|Charcot-Marie-Tooth disease, X-linked recessive, type 5|familial opticoacoustic nerve degeneration and polyneuropathy|optic atrophy, sensorineural hearing loss and polyneuropathy|CMT5X|optic atrophy, polyneuropathy, and deafness|Charcot-Marie-Tooth disease X-linked recessive type 5|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5 Orphanet:99014|DOID:0110210|ICD10:G60.0|UMLS:C1839566|OMIM:311070|GARD:0000114|SCTID:763460007 owl:Class HGNC:9462 biolink:NamedThing PRPS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024879 biolink:NamedThing metastatic carcinoma A carcinoma which has spread from the original site of growth to another anatomic site. tmpak2llvmy_mondo_relaxed.owl metastatic carcinoma NCIT:C3482|UMLS:C1384494|ICDO:8010/6 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class PATO:0002098 biolink:NamedThing neoplastic, metastatic A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0017659 biolink:NamedThing ventral surface of penis tmpak2llvmy_mondo_relaxed.owl urethral surface of penis owl:Class UBERON:0002421 biolink:NamedThing hippocampal formation Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment]. tmpak2llvmy_mondo_relaxed.owl archipallium|major hippocampus|primal cortex|hippocampus|hippocampus (Crosby)|formatio hippocampi|seahorse owl:Class OBO:CHR_9606-chr8q24 biolink:NamedThing chr8q24 (Human) tmpak2llvmy_mondo_relaxed.owl 145138636 116700000 hg38 owl:Class MONDO:0008869 biolink:NamedThing Seckel syndrome 1 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. tmpak2llvmy_mondo_relaxed.owl ATR Seckel syndrome|nanocephalic dwarfism|microcephalic primordial dwarfism 1|Seckel-type dwarfism|SCKL1|Seckel syndrome 1|Bird-headed dwarfism|Seckel syndrome caused by mutation in ATR|Seckel syndrome 3|Seckel syndrome type 1|microcephalic primordial dwarfism I|Sckl DOID:0070007|OMIM:210600|UMLS:CN033164|UMLS:C1837590 owl:Class MONDO:0013111 biolink:NamedThing acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. tmpak2llvmy_mondo_relaxed.owl transient infantile liver failure|infantile liver failure caused by mutation in TRMU|acute infantile liver failure|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|TRMU infantile liver failure|LFIT|liver failure, infantile, transient|acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins UMLS:C3278664|OMIM:613070|GARD:0010593|Orphanet:217371|ICD10:K72.0 Editor note: add transient course owl:Class HGNC:25481 biolink:NamedThing TRMU tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000488 biolink:NamedThing visible light photoreceptor cell A photoreceptor cell that detects visible light. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0009584 biolink:NamedThing detection of visible light The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. tmpak2llvmy_mondo_relaxed.owl perception of visible light owl:Class MONDO:0021113 biolink:NamedThing respiratory failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. tmpak2llvmy_mondo_relaxed.owl respiratory insufficiency/failure|acute and chronic respiratory failure|respiratory failure|acute-on-chronic respiratory failure|failure, respiratory|chronic respiratory failure|acute respiratory failure DOID:11162|ICD10:J96.0|NCIT:C26872|MESH:D012131|ICD9:518.83|UMLS:C1145670|ICD9:518.81|SCTID:39871006 owl:Class GO:0007585 biolink:NamedThing respiratory gaseous exchange by respiratory system The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpak2llvmy_mondo_relaxed.owl breathing|respiration owl:Class UBERON:0003924 biolink:NamedThing ventral pancreatic bud pancreatic bud that gives rise to the major pancreatic duct. tmpak2llvmy_mondo_relaxed.owl pancreas ventral primordium duct bud|ventral pancreatic anlage|anterior pancreatic anlage|anterior pancreatic bud|ventral pancreas anlage|pancreas primordium ventral bud owl:Class MONDO:0021941 biolink:NamedThing infection by Trypanosoma rhodesiense An infection with Trypanosoma brucei rhodesiense. tmpak2llvmy_mondo_relaxed.owl infection by trypanosoma rhodesiense|acute sleeping sickness|infection caused by trypanosoma rhodesiense|rhodesian sleeping sickness|rhodesian trypanosomiasis SCTID:42872003|UMLS:C0041233|ICD9:086.4|NCIT:C35085 owl:Class NCBITaxon:31286 biolink:NamedThing Trypanosoma brucei rhodesiense tmpak2llvmy_mondo_relaxed.owl Trypanosoma (Trypanozoon) brucei rhodesiense|Trypanosoma brucei subsp. rhodesiense GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014104 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|CAMRQ4|dysequilibrium syndrome caused by mutation in ATP8A2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|ATP8A2 dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4 UMLS:C3808977|OMIM:615268 owl:Class UBERON:0003418 biolink:NamedThing mesenchyme of submandibular gland Mesenchyme that is part of a developing submandibular gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submandibular gland mesenchyme|submaxillary gland mesenchyme owl:Class GO:0045912 biolink:NamedThing negative regulation of carbohydrate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpak2llvmy_mondo_relaxed.owl down-regulation of carbohydrate metabolic process|down regulation of carbohydrate metabolic process|inhibition of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|downregulation of carbohydrate metabolic process owl:Class MONDO:0013693 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 1 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. tmpak2llvmy_mondo_relaxed.owl neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, type 1|NISBD1|inflammatory skin and bowel disease, neonatal, 1|ADAM17 neonatal inflammatory skin and bowel disease UMLS:C3280501|OMIM:614328 owl:Class HGNC:195 biolink:NamedThing ADAM17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010953 biolink:NamedThing Fanconi anemia complementation group E Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. tmpak2llvmy_mondo_relaxed.owl FANCE|Fanconi anemia, complementation group E|Fanconi anemia complementation group type E|Fanconi anemia caused by mutation in FANCE|Fanconi Anemia, complementation group type E|Fanconi anemia complementation group E|face|FANCE Fanconi anemia UMLS:C3160739|NCIT:C125709|DOID:0111084|OMIM:600901 owl:Class HGNC:3586 biolink:NamedThing FANCE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002184 biolink:NamedThing segmental bronchus The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl tertiary bronchus owl:Class OBO:MF_0000017 biolink:NamedThing consciousness Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. tmpak2llvmy_mondo_relaxed.owl Note that while there are different modes of consciousness corresponding to the different senses, the whole of conscious experience at any one time is largely experienced as a unity, that is, as a fused whole. Mental processes which are simultaneously ongoing are separable only in fiat, not in essence. owl:Class OBO:MF_0000073 biolink:NamedThing intentionality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001707 biolink:NamedThing nasal cavity An anatomical cavity that is part of the olfactory apparatus. This includes the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. tmpak2llvmy_mondo_relaxed.owl cavum nasi|olfactory chamber cavity|cavity of olfactory apparatus|olfactory cavity|cavitas nasi|olfactory chamber|nasal canal|nasal conduit space|nasal fossa|olfactory pit|cavitas nasalis|nasal pit|cavity of nose owl:Class MONDO:0002451 biolink:NamedThing benign prostate phyllodes tumor A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells. tmpak2llvmy_mondo_relaxed.owl benign prostate phyllodes tumor|prostate phyllodes tumor|benign phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|phyllodes neoplasm of the prostate|benign prostate phyllodes neoplasm|prostate phyllodes tumor, benign|benign phyllodes neoplasm of prostate|benign phyllodes tumor of the prostate UMLS:C1332535|NCIT:C5532|DOID:2885 owl:Class PATO:0002096 biolink:NamedThing neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. tmpak2llvmy_mondo_relaxed.owl benign owl:Class GO:0006414 biolink:NamedThing translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. tmpak2llvmy_mondo_relaxed.owl protein synthesis elongation|translation elongation owl:Class MONDO:0014165 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 3 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. tmpak2llvmy_mondo_relaxed.owl MCAHS3|PIGT-CDG|congenital disorder of glycosylation due to PIGT deficiency|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|MCAHS type 3|multiple congenital anomalies-hypotonia-seizures syndrome type 3|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|glycosylphosphatidylinositol biosynthesis defect 7|multiple congenital anomalies-hypotonia-seizures syndrome 3 ICD10:Q87.8|Orphanet:369837|DOID:0080140|OMIM:615398|UMLS:C3809356 owl:Class HGNC:14938 biolink:NamedThing PIGT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007450 biolink:NamedThing neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. tmpak2llvmy_mondo_relaxed.owl diabetes insipidus, neurohypophyseal|pituitary gland diabetes insipidus|neurogenic diabetes insipidus|ADH deficiency|diabetes insipidus, primary central|vasopressin defective diabetes insipidus|vasopressin deficiency|hereditary central diabetes insipidus|antidiuretic hormone deficiency|Arginine vasopressin deficiency|diabetes insipidus of pituitary gland|pituitary diabetes insipidus|hereditary CDI|hereditary neurogenic diabetes insipidus|AVP deficiency|diabetes insipidus, cranial type SCTID:45369008|NCIT:C84933|Orphanet:30925|DOID:12388|OMIM:125700|ICD10:E23.2 owl:Class HGNC:894 biolink:NamedThing AVP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002286 biolink:NamedThing third ventricle Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone) tmpak2llvmy_mondo_relaxed.owl diencephalic ventricle|3rd ventricle|ventriculus diencephali|diencephalic vesicle|ventriculus tertius cerebri owl:Class GO:0098975 biolink:NamedThing postsynapse of neuromuscular junction The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031594 biolink:NamedThing neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. tmpak2llvmy_mondo_relaxed.owl motor endplate|NMJ owl:Class MONDO:0006274 biolink:NamedThing low grade vulvar intraepithelial neoplasia An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014) tmpak2llvmy_mondo_relaxed.owl VIN grade 1|vulvar flat condyloma|grade 1 VIN|intraepithelial neoplasia of the vulva grade 1|VIN 1|grade I vulvar intraepithelial neoplasia|intraepithelial neoplasia of vulva grade 1|vulvar Low-grade squamous intraepithelial lesion|grade I VIN|vulvar intraepithelial neoplasia grade 1|vulva intraepithelial neoplasia grade 1|vulvar Low grade squamous intraepithelial lesion|grade 1 vulvar intraepithelial neoplasia|low grade VIN|vulvar mild squamous dysplasia|vulvar intraepithelial neoplasia 1 of usual type|VIN 1 of usual type UMLS:C0495106|NCIT:C4760|EFO:1000330 owl:Class MONDO:0024677 biolink:NamedThing pancreatic insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. tmpak2llvmy_mondo_relaxed.owl adenoma, beta-cell|pancreatic insulinoma|tumor, beta-cell|insuloma|beta-cell adenomas|beta-cell adenoma|beta-cell tumor|adenomas, beta-cell|Insulomas|insulinoma|beta-cell tumors|Insulinomas|tumors, beta-cell|insulinoma tumor suppressor GENE locus|adenoma, beta cell|islet cell adenoma|beta cell tumor DOID:3892|SCTID:302822000|GARD:0003010|MedDRA:10022498|HP:0012197|MESH:D007340|ICD10:E16.8|EFO:0000549|NCIT:C95598 Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma owl:Class CL:0000168 biolink:NamedThing insulin secreting cell tmpak2llvmy_mondo_relaxed.owl BTO:0000783 cell owl:Class GO:0005981 biolink:NamedThing regulation of glycogen catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpak2llvmy_mondo_relaxed.owl regulation of glycogen breakdown|regulation of glycogen degradation|regulation of glycogenolysis|regulation of glycogen catabolism owl:Class UBERON:0002285 biolink:NamedThing telencephalic ventricle A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere tmpak2llvmy_mondo_relaxed.owl tectal ventricle|lateral ventricle|lateral ventricle of brain|forebrain ventricle|telencephalic vesicle|lateral ventricles|telencephalon lateral ventricle|telencephalic ventricle|telencephalic ventricles owl:Class UBERON:0012292 biolink:NamedThing embryonic cloacal fold One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly tmpak2llvmy_mondo_relaxed.owl cloacal fold owl:Class UBERON:0006217 biolink:NamedThing cloacal membrane The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. tmpak2llvmy_mondo_relaxed.owl membrana cloacalis|embryonic cloacal membrane owl:Class UBERON:0035639 biolink:NamedThing ocular adnexa The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva tmpak2llvmy_mondo_relaxed.owl appendages of the eye|set of accessory visual structures|structurae oculi accessoriae|accessory visual structures set|adnexa oculi|adnexal parts of orbital region|appendage of eye|accessory visual structures|accessory parts of orbital region|eye adnexa owl:Class HGNC:29021 biolink:NamedThing CEP290 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004619 biolink:NamedThing measles A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). tmpak2llvmy_mondo_relaxed.owl rubeola|morbilli|Measles morbillivirus caused disease or disorder|rubeola infection|Measles morbillivirus infectious disease|Measles morbillivirus disease or disorder EFO:1002025|MESH:D008457|SCTID:14189004|NCIT:C96406|GARD:0003434|ICD10:B05.9|ICD9:055|DOID:8622|UMLS:C0025007|ICD10:B05 https://rarediseases.info.nih.gov/diseases/3434/measles owl:Class CHEBI:67012 biolink:NamedThing L-dopa(1-) A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate owl:Class UBERON:5003625 biolink:NamedThing manual digit 5 plus metapodial segment A subdivision of the autopod consisting of manual digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl manual digit 5|manual digit V plus metapodial segment|manual digit 5 ( phalanges plus metapodial) plus soft tissue|manual digit 5 ray|manual digit 5 digitopodial subdivision owl:Class CL:0000979 biolink:NamedThing IgG memory B cell An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface. tmpak2llvmy_mondo_relaxed.owl memory IgG B-lymphocyte|memory IgG B lymphocyte|memory IgG B cell|IgG memory B-lymphocyte|IgG memory B-cell|memory IgG B-cell|IgG memory B lymphocyte cell owl:Class OBO:CHR_9606-chr1p biolink:NamedThing chr1p (Human) tmpak2llvmy_mondo_relaxed.owl 123400000 0 hg38 owl:Class GO:0033576 biolink:NamedThing protein glycosylation in cytosol The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. tmpak2llvmy_mondo_relaxed.owl protein amino acid glycosylation in cytosol owl:Class MONDO:0011873 biolink:NamedThing Niemann-Pick disease, type C2 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Niemann-PICK disease, type C2|Niemann-Pick disease, type C2|Niemann-Pick disease type C2|NPC2|type C2 Niemann-Pick disease DOID:0070114|ICD10:E75.2|UMLS:C1843366|MESH:C536119|NCIT:C126865|GARD:0003992|OMIM:607625 https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2 owl:Class HGNC:14537 biolink:NamedThing NPC2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071621 biolink:NamedThing granulocyte chemotaxis The movement of a granulocyte in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0015024 biolink:NamedThing increased porosity An increase in porosity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008751 biolink:NamedThing corticosterone methyloxidase type 1 deficiency tmpak2llvmy_mondo_relaxed.owl aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|corticosterone methyl oxidase type II deficiency|18-Hydroxylase deficiency|CMO 1 deficiency|steroid 18-hydroxylase deficiency|corticosterone 18-monooxygenase deficiency|aldosterone deficiency due to 18-hydroxylase defect|CMO II deficiency|CAH - 18-hydroxylase deficiency|corticosterone methyloxidase type 1 deficiency|aldosterone deficiency due to defect in 18 hydroxylase|hyperreninemic hypoaldosteronism, familial, 1|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|corticosterone methyl oxidase type I deficiency|18 Hydroxylase deficiency|18-hydroxylase deficiency|corticosterone methyloxidase type I deficiency|18 alpha hydroxylase deficiency|CMO I deficiency|aldosterone deficiency 1 UMLS:CN074214|SCTID:47757001|GARD:0005660|DOID:0080626|OMIM:203400 https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency owl:Class HGNC:2592 biolink:NamedThing CYP11B2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001971 biolink:NamedThing gastric juice . tmpak2llvmy_mondo_relaxed.owl stomach secretion|succus gastricus owl:Class UBERON:0011953 biolink:NamedThing stomach glandular region A region of the stomach that is lined with glandular epithelium. tmpak2llvmy_mondo_relaxed.owl glandular stomach owl:Class HGNC:20194 biolink:NamedThing POLR1C tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000053 biolink:NamedThing splenic endothelial cell Any endothelial cell that is part of a spleen. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5500 TermGenie 2014-10-06T19:06:04Z cell owl:Class MONDO:0001964 biolink:NamedThing chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. tmpak2llvmy_mondo_relaxed.owl ICD9:382.1|DOID:14435|UMLS:C0155440|ICD10:H66.10|ICD10:H66.1|SCTID:87665008 owl:Class HP:0000405 biolink:NamedThing Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. tmpak2llvmy_mondo_relaxed.owl Conductive deafness|Hearing loss, conductive|Conductive hearing loss|Conduction deafness UMLS:C0018777|MSH:D006314|SNOMEDCT_US:44057004 A conductive hearing impariment with greater than 90 dB loss. HP:0000367|HP:0008581 human_phenotype owl:Class UBERON:0010983 biolink:NamedThing levator scapulae pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001066 biolink:NamedThing intervertebral disk A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. tmpak2llvmy_mondo_relaxed.owl spinal disk|intervertebral disc|intervertebral fibrocartilage|discus intervertebralis|spinal disc owl:Class UBERON:0006562 biolink:NamedThing pharynx The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. tmpak2llvmy_mondo_relaxed.owl pharyngeal tube|anterior part of foregut owl:Class UBERON:0003268 biolink:NamedThing tooth of lower jaw A calcareous tooth that is part of the lower jaw region. In mammals, the lower jaw teeth are attached to the mandible (dentary). tmpak2llvmy_mondo_relaxed.owl lower jaw dentine containing tooth|mandibular tooth|lower jaw calcareous tooth|calcareous tooth of lower jaw|lower jaw tooth|lower jaw vertebrate tooth owl:Class MONDO:0011957 biolink:NamedThing retinal macular dystrophy type 2 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. tmpak2llvmy_mondo_relaxed.owl macular dystrophy, retinal, 2|macular dystrophy, retinal, type 2|MCDR2 OMIM:608051|Orphanet:319640|ICD10:H35.5|MESH:C562746 owl:Class MONDO:0008316 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal dominant tmpak2llvmy_mondo_relaxed.owl thrombophilia due to protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|Protein C deficiency, acquired|thrombophilia due to PROTEIN C deficiency, autosomal dominant|Protein C deficiency, autosomal dominant|THPH3 OMIM:176860 owl:Class HGNC:9451 biolink:NamedThing PROC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001528 biolink:NamedThing radio-ulnar joint A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints tmpak2llvmy_mondo_relaxed.owl articulation of the radus and ulna|radioulnar joint|radioulnar articulation owl:Class UBERON:0001016 biolink:NamedThing nervous system The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. tmpak2llvmy_mondo_relaxed.owl neurological system|nerve net|systema nervosum owl:Class MONDO:0005663 biolink:NamedThing Barre-Lieou syndrome A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. tmpak2llvmy_mondo_relaxed.owl Cervicocranial syndrome|posterior cervical sympathetic syndrome ICD10:M53.0|UMLS:C2355645|SCTID:17300000|MESH:D055010|ICD9:723.2|EFO:0007165|DOID:6692|NCIT:C34411|UMLS:C0376378 owl:Class MONDO:0037747 biolink:NamedThing spinal injury A injury that involves the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral column injury|injury of vertebral column SCTID:262521009|MESH:D013124 owl:Class CL:0000864 biolink:NamedThing tissue-resident macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpak2llvmy_mondo_relaxed.owl resting histiocyte|fixed macrophage FMA:84642|FMA:84644 cell owl:Class GO:0050666 biolink:NamedThing regulation of homocysteine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. tmpak2llvmy_mondo_relaxed.owl regulation of homocysteine metabolism|regulation of Hcy metabolic process|regulation of Hcy metabolism owl:Class GO:0050667 biolink:NamedThing homocysteine metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. tmpak2llvmy_mondo_relaxed.owl Hcy metabolic process|Hcy metabolism|homocysteine metabolism owl:Class MONDO:0006321 biolink:NamedThing non-functioning adrenal cortex adenoma An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. tmpak2llvmy_mondo_relaxed.owl adrenal cortex non-functioning endocrine neoplasm|non-functioning adrenal cortex adenoma|adrenal cortical incidentaloma|non-functioning adrenal cortical adenoma|nonfunctional adrenal cortex adenoma|non-functioning endocrine neoplasm of adrenal cortex EFO:1000399|UMLS:C1709240|NCIT:C48458 owl:Class UBERON:0001235 biolink:NamedThing adrenal cortex the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone tmpak2llvmy_mondo_relaxed.owl suprarenal cortex|cortex glandulae suprarenalis|cortex of adrenal gland|suprarenal|cortex (glandula suprarenalis)|cortex of suprarenal gland|adrenal gland cortex owl:Class UBERON:0016536 biolink:NamedThing white matter of limbic lobe A white matter of cerebral lobe that is part of a limbic lobe. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002600 biolink:NamedThing limbic lobe Part of cerebral hemisphere located on the medial surface, forming a ring around the brain stem tmpak2llvmy_mondo_relaxed.owl fornicate convolution|limbic lobe (carpenter)|fornicate gyrus|fornicate lobe|lobus limbicus|grande lobe limbique of Broca|gyrus fornicatus owl:Class MONDO:0004091 biolink:NamedThing skin basaloid carcinoma A basaloid squamous cell carcinoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl skin basaloid carcinoma|zone of skin basaloid squamous cell carcinoma|skin basaloid squamous cell carcinoma|basaloid skin squamous cell carcinoma|basaloid squamous cell skin carcinoma NCIT:C27543|UMLS:C1335973|DOID:7049 owl:Class HGNC:20778 biolink:NamedThing TUBB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003443 biolink:NamedThing thoracic cavity nerve A nerve that is located in a thoracic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pectoral cavity nerve|cavity of thorax nerve|nerve of cavity of thorax|chest cavity nerve|cavity of chest nerve|nerve of pectoral cavity|nerve of thoracic cavity|nerve of chest cavity|nerve of cavity of chest owl:Class OBO:CHR_9606-chr3q13 biolink:NamedThing chr3q13 (Human) tmpak2llvmy_mondo_relaxed.owl 122200000 103100000 hg38 owl:Class UBERON:0003715 biolink:NamedThing splanchnic nerve The major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia. tmpak2llvmy_mondo_relaxed.owl visceral nerve|splanchnic nerves owl:Class UBERON:0015055 biolink:NamedThing pubic endochondral element A pubic bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pubic skeletal element|pubic element owl:Class UBERON:0002029 biolink:NamedThing epithelium of gall bladder The simple columnar epithelial lining of the gall bladder. tmpak2llvmy_mondo_relaxed.owl gall bladder epithelium|gall bladder epithelial tissue|epithelium of gallbladder|gallbladder epithelial tissue|epithelial tissue of gallbladder|biliary epithelium|epithelial tissue of gall bladder|gallbladder epithelium owl:Class OBO:CHR_9606-chr13q14 biolink:NamedThing chr13q14 (Human) tmpak2llvmy_mondo_relaxed.owl 54700000 39500000 hg38 owl:Class OBO:CHR_9606-chr13q1 biolink:NamedThing chr13q1 (Human) tmpak2llvmy_mondo_relaxed.owl 54700000 17700000 hg38 owl:Class MONDO:0004922 biolink:NamedThing developmental coordination disorder A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. tmpak2llvmy_mondo_relaxed.owl developmental dyspraxia|clumsy child syndrome|development coordination disorder ICD10:F82|NCIT:C92561|MESH:D019957|UMLS:C0520947|SCTID:27544004|ICD9:315.4|DOID:9923 owl:Class HP:0011443 biolink:NamedThing Abnormality of coordination tmpak2llvmy_mondo_relaxed.owl Coordination issue|Abnormality of coordination UMLS:C4023353 peter 2012-03-18T02:40:46Z human_phenotype owl:Class MONDO:0013872 biolink:NamedThing prostate cancer, hereditary, 2 Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene. tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 2|ELAC2 familial prostate cancer|familial prostate cancer caused by mutation in ELAC2|HPC2|prostate cancer, hereditary, 2 OMIM:614731|UMLS:C3539120 owl:Class UBERON:5103631 biolink:NamedThing pedal digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 1 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl pedal digit 1 skeleton|pedal digit I digitopodial skeleton|pedal digit 1 owl:Class MONDO:0020728 biolink:NamedThing hypouricemia, renal 1 tmpak2llvmy_mondo_relaxed.owl renal hypouricemia|Dalmatian hypouricemia|RHUC1|hypouricemia, renal, type 1|hypouricemia, renal, 1 UMLS:C0473219|OMIM:220150 owl:Class HGNC:17989 biolink:NamedThing SLC22A12 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014055 biolink:NamedThing acetylcholine secretion, neurotransmission The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100272 biolink:NamedThing peroxisome biogenesis disorder due to PEX7 defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. tmpak2llvmy_mondo_relaxed.owl rhizomelic chondrodysplasia punctata type 1 (formerly)|adult refsum disease due to PEX7 defect (formerly)|PEX7 related peroxisome biogenesis disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:8860 biolink:NamedThing PEX7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014699 biolink:NamedThing intellectual disability, autosomal dominant 40 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 40|mental retardation, autosomal dominant type 40|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|mental retardation, autosomal dominant 40|autosomal dominant mental retardation 40|autosomal dominant non-syndromic intellectual disability 40|MRD40|intellectual disability, autosomal dominant 40|CHAMP1 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 40 UMLS:C4225275|OMIM:616579|DOID:0070070 owl:Class HGNC:20311 biolink:NamedThing CHAMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001787 biolink:NamedThing photoreceptor layer of retina The layer within the retina where the photoreceptor cell receptor segments reside. tmpak2llvmy_mondo_relaxed.owl retina photoreceptor layer|stratum segmentorum externorum et internorum retinae|layer of rods and cones|retinal photoreceptor layers|retinal photoreceptor layer|stratum segmentorum externorum et internorum (retina) owl:Class CL:0000287 biolink:NamedThing eye photoreceptor cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0006756 biolink:NamedThing median lingual swelling During the third week of embryological development there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings which rise from the inner surface of the mandibular arch and meet in the middle line. The site of their meeting remains post-embryonically as the median sulcus of the tongue. The tuberculum impar is said to form the central part of the tongue immediately in front of the foramen cecum, but Hammar insists that it is purely a transitory structure and forms no part of the adult tongue[WP, Gray's]. tmpak2llvmy_mondo_relaxed.owl median tongue bud|tuberculum linguale mediale|tuberculum impar|median lingual swelling owl:Class UBERON:0004362 biolink:NamedThing pharyngeal arch 1 The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries tmpak2llvmy_mondo_relaxed.owl branchial arch 1|1st arch|1st visceral arch|first visceral arch|arcus pharyngeus primus|first branchial arch|visceral arch 1|1st pharyngeal arch|mandibular arch|first pharyngeal arch owl:Class UBERON:0001801 biolink:NamedThing anterior segment of eyeball any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) tmpak2llvmy_mondo_relaxed.owl anterior eye segment|anterior segment of the eye|eye anterior segment|anterior segment of eye|segmentum anterius bulbi oculi|anterior segment eye|segmentum anterius (bulbus oculi) owl:Class MONDO:0005700 biolink:NamedThing chickenpox A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. tmpak2llvmy_mondo_relaxed.owl chickenpox|chicken pox|Varicella|varicella|chicken pox infection SCTID:38907003|NCIT:C97132|MESH:D002644|ICD10:B01|ICD9:052.9|DOID:8659|EFO:0007204|UMLS:C0008049|ICD9:052|ICD10:B01.9 owl:Class NCBITaxon:10335 biolink:NamedThing Human alphaherpesvirus 3 tmpak2llvmy_mondo_relaxed.owl VZV|Varicella Zoster Virus|varicella zoster virus VZV|Varicella-zoster virus|HHV-3|Human herpesvirus 3|varicella-zoster virus VZV|Human herpes virus 3 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:447135 biolink:NamedThing Myodes glareolus tmpak2llvmy_mondo_relaxed.owl Clethrionomys glareolus|Bank vole|bank vole GC_ID:1 NCBITaxon:51090 ncbi_taxonomy owl:Class ENVO:01000804 biolink:NamedThing astronomical object An object which is composed of one or more gravitationally bound structures that are associated with a position in space. tmpak2llvmy_mondo_relaxed.owl celestial object owl:Class MONDO:0010044 biolink:NamedThing hereditary spastic paraplegia 15 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. tmpak2llvmy_mondo_relaxed.owl SPG15|spastic paraplegia 15|recessive spastic paraplegia with retinal degeneration|spastic paraplegia 15, autosomal recessive|hereditary spastic paraplegia type 15|spastic paraplegia-retinal degeneration syndrome|autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|hereditary spastic paraplegia 15|ZFYVE26 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 15|spastic paraplegia and retinal Degeneration|Kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia and retinal degeneration|autosomal recessive spastic paraplegia 15 ICD10:G11.4|GARD:0009581|UMLS:C1849128|MESH:C536642|Orphanet:100996|DOID:0110768|OMIM:270700|SCTID:709417000 owl:Class HGNC:20761 biolink:NamedThing ZFYVE26 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009878 biolink:NamedThing pituitary hormone deficiency, combined, 2 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. tmpak2llvmy_mondo_relaxed.owl ateliotic dwarfism with hypogonadism|PROP1 combined pituitary hormone deficiencies, genetic form|CPHD2|pituitary hormone deficiency, combined, 2|Hanhart dwarfism|pituitary hormone deficiency, combined, type 2|panhypopituitarism|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|pituitary dwarfism 3 UMLS:C0878683|OMIM:262600 owl:Class HGNC:9455 biolink:NamedThing PROP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003098 biolink:NamedThing optic stalk the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain tmpak2llvmy_mondo_relaxed.owl pedunculus opticus|optic stalks owl:Class UBERON:0003051 biolink:NamedThing ear vesicle An epithelial sac of invaginated ectoderm formed from the otic placode that gives rise to the structures of the inner ear[MP] tmpak2llvmy_mondo_relaxed.owl otocyst|otic vesicle|auditory vesicle|OV|acoustic vesicle owl:Class GO:0045058 biolink:NamedThing T cell selection The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. tmpak2llvmy_mondo_relaxed.owl T lymphocyte selection|T-lymphocyte selection|T-cell selection owl:Class GO:0030217 biolink:NamedThing T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. tmpak2llvmy_mondo_relaxed.owl T-lymphocyte differentiation|T cell development|T-cell differentiation|T lymphocyte differentiation owl:Class UBERON:0005080 biolink:NamedThing metanephric ureteric bud The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015791 biolink:NamedThing digit connective tissue A portion of connective tissue that is part of a digit. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000556 biolink:NamedThing megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. tmpak2llvmy_mondo_relaxed.owl megacaryocyte|megalokaryocyte|megalocaryocyte FMA:83555|BTO:0000843|CALOHA:TS-0611 Megakaryocytes are reportedly CD181-positive and CD182-positive. cell owl:Class UBERON:0002371 biolink:NamedThing bone marrow the soft tissue that fills the cavities of bones tmpak2llvmy_mondo_relaxed.owl medulla of bone|medullary bone|medulla ossea|medulla ossium owl:Class UBERON:0004060 biolink:NamedThing neural tube ventricular layer The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium tmpak2llvmy_mondo_relaxed.owl neural tube ventricular germinal zone|ependymal layer|neural tube ependymal layer|neural tube ependymal zone|neural tube ventricular zone owl:Class UBERON:0001871 biolink:NamedThing temporal lobe Lower lateral part of the cerebral hemisphere. (MSH) tmpak2llvmy_mondo_relaxed.owl lobus temporalis|temporal cortex owl:Class UBERON:0002204 biolink:NamedThing musculoskeletal system Anatomical system that consists of the muscular and skeletal systems. tmpak2llvmy_mondo_relaxed.owl musculo-skeletal system owl:Class MONDO:0013768 biolink:NamedThing arterial calcification, generalized, of infancy, 2 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene. tmpak2llvmy_mondo_relaxed.owl arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, 2|GACI2 UMLS:C3276161|OMIM:614473 owl:Class HGNC:57 biolink:NamedThing ABCC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014122 biolink:NamedThing myofibromatosis, infantile, 2 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. tmpak2llvmy_mondo_relaxed.owl myofibromatosis caused by mutation in NOTCH3|IMF2|myofibromatosis, infantile, type 2|NOTCH3 myofibromatosis|myofibromatosis, infantile, 2 OMIM:615293|UMLS:C3809084 owl:Class HGNC:7883 biolink:NamedThing NOTCH3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007060 biolink:NamedThing spermatogenic failure 6 Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene. tmpak2llvmy_mondo_relaxed.owl SPATA16 azoospermia|spermatogenic failure type 6|acrosome malformation of spermatozoa|round-headed spermatozoa|spermatozoa, round-headed|globozoospermia|SPGF6|spermatogenic failure 6|azoospermia caused by mutation in SPATA16 SCTID:236818008|DOID:0070167|OMIM:102530 owl:Class HGNC:29935 biolink:NamedThing SPATA16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009269 biolink:NamedThing geleophysic dysplasia 1 Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene. tmpak2llvmy_mondo_relaxed.owl ADAMTSL2 geleophysic dysplasia|GPHYSD1|GELEOPHYSIC dysplasia 1|Geleophysic dysplasia type 1|geleophysic dysplasia caused by mutation in ADAMTSL2|geleophysic dysplasia 1 OMIM:231050|DOID:0111725|UMLS:C3278147 owl:Class HGNC:14631 biolink:NamedThing ADAMTSL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011902 biolink:NamedThing Charcot-Marie-Tooth disease type 1F A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 1F|CMT1F|Charcot-Marie-Tooth neuropathy, type 1F|CMT 1F|NEFL Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth disease, demyelinating, type 1F|Charcot Marie Tooth disease type 1F ICD10:G60.0|MESH:C537987|OMIM:607734|DOID:0110149|UMLS:C1843164|Orphanet:101085|SCTID:719980006|GARD:0009191 https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f owl:Class MONDO:0100213 biolink:NamedThing IFAP syndrome with or without BRESHECK syndrome An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. tmpak2llvmy_mondo_relaxed.owl IFAP syndrome with or without BRESHECK syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia|ichthyosis follicularis atrichia photophobia syndrome|ichthyosis follicularis-atrichia-photophobia syndrome|IFAP syndrome|IFAP/BRESHECK syndrome MESH:C536085|OMIM:308205|GARD:0002952|UMLS:C1839988|Orphanet:2273 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:15455 biolink:NamedThing MBTPS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008713 biolink:NamedThing pectoral girdle and thoracic body wall skeletal muscle tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010425 biolink:NamedThing internal naris A naris that is located inside the nasal cavity and connects to the pharynx. tmpak2llvmy_mondo_relaxed.owl choana|internal nares|choanae|internal nostril|internal choana owl:Class CHEBI:50910 biolink:NamedThing neurotoxin A poison that interferes with the functions of the nervous system. tmpak2llvmy_mondo_relaxed.owl nerve poisons|nerve poison|neurotoxicant|neurotoxins|neurotoxic agents|neurotoxic agent|agente neurotoxico owl:Class OBO:CHR_9606-chr7q36 biolink:NamedThing chr7q36 (Human) tmpak2llvmy_mondo_relaxed.owl 159345973 148200000 hg38 owl:Class OBO:CHR_9606-chr7q3 biolink:NamedThing chr7q3 (Human) tmpak2llvmy_mondo_relaxed.owl 159345973 107800000 hg38 owl:Class HGNC:12775 biolink:NamedThing WNT10B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000106 biolink:NamedThing zygote stage A stage at which the organism is a single cell produced by means of sexual reproduction. tmpak2llvmy_mondo_relaxed.owl fertilized egg stage|zygote|1-cell stage|one cell stage|zygotum|one-cell stage owl:Class MONDO:0003281 biolink:NamedThing ovarian cystic teratoma A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. tmpak2llvmy_mondo_relaxed.owl ovary cystic teratoma DOID:5118|UMLS:C1335155|NCIT:C7283 owl:Class UBERON:0013478 biolink:NamedThing cecal tonsil A thickened round patch of lymphoid tissue located at the ileocecal junction adjacent to the sacculus rotundus. tmpak2llvmy_mondo_relaxed.owl cecal GALT|caecal tonsil owl:Class UBERON:0000314 biolink:NamedThing cecum mucosa A mucosa that is part of a cecum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cecal mucosa|mucosa of intestinum crassum caecum|organ mucosa of caecum|mucosa of organ of cecum|mucous membrane of cecum|mucous membrane of caecum|cecum mucous membrane|intestinum crassum caecum mucosa of organ|intestinum crassum caecum organ mucosa|mucosa of organ of caecum|caecum mucosa|mucosa of organ of intestinum crassum caecum|intestinum crassum caecum mucous membrane|organ mucosa of intestinum crassum caecum|caecum mucous membrane|caecum organ mucosa|mucosa of cecum|organ mucosa of cecum|cecum mucosa of organ|mucous membrane of intestinum crassum caecum|caecum mucosa of organ|cecum organ mucosa|intestinum crassum caecum mucosa|mucosa of caecum owl:Class HP:0000275 biolink:NamedThing Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). tmpak2llvmy_mondo_relaxed.owl Horizontal insufficiency of face|Transverse deficiency of face|Horizontal hypoplasia of face|Decreased breadth of face|Decreased transverse dimension of face|Narrow facies|Thin facies|Narrow face|Decreased horizontal dimension of face|Transverse hypoplasia of face|Thin face|Horizontal deficiency of face|Transverse insufficiency of face|Decreased width of face UMLS:C1849121|UMLS:C1837463 Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. HP:0000318 human_phenotype owl:Class MONDO:0013545 biolink:NamedThing atrial fibrillation, familial, 12 Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene. tmpak2llvmy_mondo_relaxed.owl ATFB12|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, type 12|atrial fibrillation, familial, 12|ABCC9 familial atrial fibrillation UMLS:C3279695|OMIM:614050 owl:Class HGNC:60 biolink:NamedThing ABCC9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100453 biolink:NamedThing recessive GUCY2D retinopathy A retinopathy caused by biallelic variants in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl LCA1|GUCY2D cone-rod dystrophy|CRB|amaurosis congenita of Leber I|retinal cone dystrophy 2|cone-rod dystrophy caused by mutation in GUCY2D|retinal blindness, congenital|amaurosis congenita of Leber 1|LCA|night blindness, congenital stationary, type 1I|cone-rod dystrophy 6|Leber congenital amaurosis 1|Leber congenital amaurosis caused by mutation in GUCY2D|RCD2|cone-rod dystrophy type 6|recessive GUCY2D retinopathy|Leber congenital amaurosis type 1|CORD6|amaurosis congenita of Leber, type 1|GUCY2D Leber congenital amaurosis http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:4689 biolink:NamedThing GUCY2D tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0004324 biolink:NamedThing Increased body weight Abnormally increased body weight. tmpak2llvmy_mondo_relaxed.owl Increased body weight|Weight gain SNOMEDCT_US:262286000|MSH:D015430|UMLS:C0043094|SNOMEDCT_US:161831008|SNOMEDCT_US:8943002 peter 2008-02-27T03:21:00Z HP:0045083 human_phenotype owl:Class Nf74ed1b6dfef4b2382920e67735c080c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:1900371 biolink:NamedThing regulation of purine nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpak2llvmy_mondo_relaxed.owl regulation of purine nucleotide anabolism|regulation of purine nucleotide biosynthesis|regulation of purine nucleotide formation|regulation of purine nucleotide synthesis owl:Class UBERON:0006914 biolink:NamedThing squamous epithelium An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013924 biolink:NamedThing osteogenesis imperfecta type 13 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene. tmpak2llvmy_mondo_relaxed.owl BMP1 osteogenesis imperfecta|OI13|osteogenesis imperfecta type XIII|osteogenesis imperfecta, type 13|osteogenesis imperfecta caused by mutation in BMP1|OI, type 13|osteogenesis imperfecta, type XIII OMIM:614856|DOID:0110342|UMLS:C3553887|ICD10:Q78.0 owl:Class HGNC:1067 biolink:NamedThing BMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012809 biolink:NamedThing histiocytoma, Angiomatoid fibrous A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. tmpak2llvmy_mondo_relaxed.owl histiocytoma, Angiomatoid fibrous|AFH|angiomatoid malignant fibrous histiocytoma|angiomatoid fibrous histiocytoma UMLS:C1266127|ONCOTREE:AFH|ICDO:8836/1|OMIM:612160|MESH:C563181|NCIT:C6494|Orphanet:569164 owl:Class HGNC:2345 biolink:NamedThing CREB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013432 biolink:NamedThing Meier-Gorlin syndrome 5 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. tmpak2llvmy_mondo_relaxed.owl Meier-GORLIN syndrome 5|Meier-Gorlin syndrome type 5|Meier-Gorlin syndrome caused by mutation in CDC6|CDC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome 5|MGORS5 UMLS:C3151126|DOID:0080516|OMIM:613805 owl:Class HGNC:1744 biolink:NamedThing CDC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007640 biolink:NamedThing Sorsby fundus dystrophy A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. tmpak2llvmy_mondo_relaxed.owl hemorrhagic macular dystrophy|macular dystrophy, hemorrhagic|pseudoinflammatory fundus dystrophy of Sorsby|Sorsby pseudoinflammatory fundus dystrophy|Sorsby fundus dystrophy|SFD|Sorsby's pseudoinflammatory macular dystrophy|Sorsby's fundus dystrophy|fundus dystrophy, pseudoinflammatory, of Sorsby SCTID:193410003|DOID:0090114|OMIM:136900|GARD:0010511|Orphanet:59181|ICD10:H35.5|MESH:C564992 owl:Class HGNC:11822 biolink:NamedThing TIMP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019544 biolink:NamedThing cocaine intoxication tmpak2llvmy_mondo_relaxed.owl Orphanet:90068|ICD10:T40.5|SCTID:27956007|ICD9:292.89 owl:Class MONDO:0100286 biolink:NamedThing respiratory syncytial virus bronchiolitis Bronciolitis caused by infection with respiratory syncytial virus. tmpak2llvmy_mondo_relaxed.owl RSV bronchiolitis http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:11250 biolink:NamedThing Human orthopneumovirus tmpak2llvmy_mondo_relaxed.owl Human respiratory syncytial virus|human RSV|HRSV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009550 biolink:NamedThing renal hypomagnesemia 3 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. tmpak2llvmy_mondo_relaxed.owl primary hypomagnesemia due to defect in renal tubular transport of magnesium|familial primary hypomagnesemia caused by mutation in CLDN16|primary hypomagnesemia caused by mutation in CLDN16|hypercalciuria, childhood, self-limiting|hypomagnesemia 3, renal|hypomagnesemia, isolated renal|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|CLDN16 primary hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|isolated renal hypomagnesemia|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|CLDN16 familial primary hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|HOMG3|FHHNC without severe ocular involvement|magnesium, defect in renal tubular transport of|renal hypomagnesemia type 3 Orphanet:31043|SCTID:725033008|DOID:0060880|MESH:C537153|OMIM:248250|ICD10:E83.4 owl:Class HGNC:2037 biolink:NamedThing CLDN16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014290 biolink:NamedThing neurodegeneration with brain iron accumulation 6 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. tmpak2llvmy_mondo_relaxed.owl COASY protein-associated neurodegeneration|NBIA6|neurodegeneration with brain iron accumulation 6|CoPAN|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation caused by mutation in COASY|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation due to COASY mutation GARD:0012571|Orphanet:397725|SCTID:732264002|ICD10:G23.0|OMIM:615643|UMLS:C3810230|DOID:0110740 owl:Class HGNC:29932 biolink:NamedThing COASY tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0009743 biolink:NamedThing Distichiasis Double rows of eyelashes. tmpak2llvmy_mondo_relaxed.owl Distichiasis of eyelid eyelashes SNOMEDCT_US:95339000|UMLS:C0423848 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. peter 2009-01-31T02:07:50Z human_phenotype owl:Class UBERON:0003318 biolink:NamedThing mesenchyme of elbow Mesenchyme that is part of a developing elbow [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of cubital region|elbow mesenchyme|cubital region mesenchyme owl:Class UBERON:0001461 biolink:NamedThing elbow The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. tmpak2llvmy_mondo_relaxed.owl elbow limb segment|elbow region|articulatio cubiti|cubital region owl:Class MONDO:0029134 biolink:NamedThing severe combined immunodeficiency due to CARMIL2 deficiency tmpak2llvmy_mondo_relaxed.owl immunodeficiency 58|IMD58 OMIM:618131|Orphanet:542301 owl:Class HGNC:27089 biolink:NamedThing CARMIL2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002047 biolink:NamedThing pontine raphe nucleus The pontine raphe nucleus is one of the raphe nuclei. It is located in the pontine tegmentum. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl raphe of pons|raphe pontis nucleus|nucleus raphes pontis|nucleus raphe pontis|raphe (mediana pontina)|raphe pontis owl:Class UBERON:0003023 biolink:NamedThing pontine tegmentum Dorsal portion of the pons, containing cranial nervee nuclei, ascending and descending tracts and reticular nuclei. It is continuous with the reticular formation of the medulla (Carpenter, A Core Text of Neuroanatomy, 3rd ed, 1985, pg 133). tmpak2llvmy_mondo_relaxed.owl pars dorsalis pontis|dorsal portion of pons|pars posterior pontis|tegmental portion of pons|tegmentum pontis|dorsal pons|tegmentum of pons owl:Class ENVO:00005748 biolink:NamedThing dry soil Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001824 biolink:NamedThing dry A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005977 biolink:NamedThing tabes dorsalis A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. tmpak2llvmy_mondo_relaxed.owl posterior spinal sclerosis|tabes dorsalis - neurosyphilis|syphilitic myelopathy NCIT:C35057|SCTID:316841006|UMLS:C0039223|ICD10:A52.11|MESH:D013606|ICD9:094.0|DOID:10027|GARD:0008730|EFO:0007505 owl:Class HP:0003401 biolink:NamedThing Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. tmpak2llvmy_mondo_relaxed.owl Paresthesias|Tingling|Pins and needles feeling UMLS:C0030554|MSH:D010292|SNOMEDCT_US:91019004 HP:0002082 human_phenotype owl:Class UBERON:0011997 biolink:NamedThing coelom The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. tmpak2llvmy_mondo_relaxed.owl schizocoelom|enterocoelom|haemocoelom|coelem|coelomic cavity owl:Class CHEBI:27027 biolink:NamedThing micronutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. tmpak2llvmy_mondo_relaxed.owl micronutrients|trace elements owl:Class GO:0055007 biolink:NamedThing cardiac muscle cell differentiation The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. tmpak2llvmy_mondo_relaxed.owl cardiomyocyte differentiation|heart muscle cell differentiation owl:Class MONDO:0009501 biolink:NamedThing metabolic myopathy due to lactate transporter defect Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. tmpak2llvmy_mondo_relaxed.owl erythrocyte lactate transporter defect|lactate transporter defect, myopathy due to MESH:C565449|ICD10:G72.8|OMIM:245340|UMLS:C1855577|Orphanet:171690|SCTID:766715000 owl:Class UBERON:0001282 biolink:NamedThing intralobular bile duct the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule tmpak2llvmy_mondo_relaxed.owl canal of Hering|cholangiole|canals of Hering|intrahepatic bile ductule|canal of Herring|duct of Herring|ductus interlobularis bilifer owl:Class MONDO:0012274 biolink:NamedThing acromesomelic dysplasia, Demirhan type tmpak2llvmy_mondo_relaxed.owl acromesomelic dysplasia, DEMIRHAN type|AMDD|acromesomelic dysplasia, Demirhan type|chondrodysplasia acromesomelic with genital anomalies|chondrodysplasia, acromesomelic, with or without genital anomalies OMIM:609441|MESH:C537913|GARD:0010077 https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies owl:Class HGNC:1077 biolink:NamedThing BMPR1B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002052 biolink:NamedThing adrenal gland capsule the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex. tmpak2llvmy_mondo_relaxed.owl adrenal capsule|capsule of adrenal gland owl:Class UBERON:0001156 biolink:NamedThing ascending colon Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified] tmpak2llvmy_mondo_relaxed.owl spiral colon|colon ascendens owl:Class N50845f423cce48ceb503af4347513472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011177 biolink:NamedThing ectodermal dysplasia 4, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. tmpak2llvmy_mondo_relaxed.owl pili torti onychodysplasia|ECTD4|ectodermal dysplasia, 'Pure' hair/nail type|ectodermal dysplasia 4, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|KRT85 pure hair and nail ectodermal dysplasia|twisted hair with nail dysplasias DOID:0111658|GARD:0004364|OMIM:602032|MESH:C566592 owl:Class HGNC:6462 biolink:NamedThing KRT85 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036242 biolink:NamedThing post-embryonic notochord A notochord that has persisted beyond the embryonic stage. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009953 biolink:NamedThing post-embryonic organism A multicellular organism that existence_starts_with a post-embryonic stage. tmpak2llvmy_mondo_relaxed.owl post-natal organism|post-hatching organism|postnatal organism|postnatal mouse|TS28 mouse owl:Class MONDO:0011211 biolink:NamedThing axial spondylometaphyseal dysplasia Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. tmpak2llvmy_mondo_relaxed.owl SmD, axial|SMDAX|axial SmD|spondylometaphyseal dysplasia axial type|SmD axial|spondylometaphyseal dysplasia, axial UMLS:C1865695|ICD10:Q77.8|OMIM:602271|Orphanet:168549|GARD:0008720|MESH:C535795 https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia owl:Class UBERON:0001808 biolink:NamedThing parasympathetic ganglion Ganglion containing neurons that receive innervation from parasympathetic neurons in the central nervous system and subserves parasympathetic functions through innervation of smooth muscle, cardiac muscle and glands. tmpak2llvmy_mondo_relaxed.owl ganglion parasympathicum owl:Class MONDO:0008763 biolink:NamedThing Alstrom syndrome A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. tmpak2llvmy_mondo_relaxed.owl ALSS|Alstrom's syndrome|ALMS|Alström syndrome|Alstrom syndrome ICD10:Q87.8|MedDRA:10068783|NCIT:C84549|Orphanet:64|MESH:D056769|GARD:0005787|SCTID:63702009|UMLS:C0268425|DOID:0050473|ICD9:759.89|OMIM:203800 https://github.com/monarch-initiative/mondo/issues/324 owl:Class HP:0001644 biolink:NamedThing Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. tmpak2llvmy_mondo_relaxed.owl Cardiomyopathy, dilated|Stretched and thinned heart muscle|Congestive cardiomyopathy|DCM UMLS:C0007193|Fyler:1843|SNOMEDCT_US:195021004|SNOMEDCT_US:399020009|MSH:D002311 HP:0200130|HP:0005159|HP:0001725 human_phenotype owl:Class MONDO:0012730 biolink:NamedThing aortic aneurysm, familial thoracic 6 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. tmpak2llvmy_mondo_relaxed.owl familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|ACTA2 familial thoracic aortic aneurysm and aortic dissection|AAT6|aortic aneurysm, familial thoracic type 6|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|aortic aneurysm, familial thoracic 6 UMLS:C2673186|OMIM:611788|MESH:C567085 owl:Class HGNC:130 biolink:NamedThing ACTA2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012219 biolink:NamedThing Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:32861005|UMLS:C0014743|MSH:D004893 The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. peter 2013-03-30T06:57:07Z human_phenotype owl:Class MONDO:0010725 biolink:NamedThing X-linked retinoschisis X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. tmpak2llvmy_mondo_relaxed.owl XLRS|retinoschisis, X-linked|RS|X-linked retinoschisis|juvenile retinoschisis|X-linked juvenile retinoschisis 1|retinoschisis juvenile X chromosome-linked|juvenile X-linked retinoschisis|RS1|XJR|retinoschisis X-linked|retinoschisis 1, X-linked, juvenile|XLRS1|X-linked juvenile retinoschisis type 1|X-linked juvenile retinoschisis SCTID:86923008|OMIM:312700|GARD:0004690|Orphanet:792|NCIT:C75483|DOID:0060763|ICD10:Q14.1 owl:Class HGNC:10457 biolink:NamedThing RS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018807 biolink:NamedThing idiopathic ductopenia tmpak2llvmy_mondo_relaxed.owl IAD|idiopathic adult ductopenia UMLS:CN244899|Orphanet:480512 owl:Class UBERON:0005486 biolink:NamedThing venous dural sinus A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein. tmpak2llvmy_mondo_relaxed.owl venous dural|venous dural sinus|s. durae matris|dural venous sinus|dural sinus|dural vein|cranial dural venous sinus owl:Class GO:0002339 biolink:NamedThing B cell selection The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival. tmpak2llvmy_mondo_relaxed.owl B-lymphocyte selection|B-cell selection|B lymphocyte selection owl:Class GO:0030183 biolink:NamedThing B cell differentiation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl B-lymphocyte differentiation|B lymphocyte differentiation|B cell development|B-cell differentiation owl:Class CHEBI:32773 biolink:NamedThing D-tyrosinate(1-) An optically active form of tyrosinate(1-) having D-configuration. tmpak2llvmy_mondo_relaxed.owl D-tyrosinate(1-)|hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate|D-tyrosine monoanion owl:Class MONDO:0014910 biolink:NamedThing primary ciliary dyskinesia 35 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 35|ciliary dyskinesia, primary, 35|primary ciliary dyskinesia caused by mutation in TTC25|TTC25 primary ciliary dyskinesia|primary ciliary dyskinesia 35 with or without situs inversus|CILD35|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia type 35 OMIM:617092|UMLS:C4310721|DOID:0110620 owl:Class HGNC:25280 biolink:NamedThing ODAD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020589 biolink:NamedThing cardiac germ cell tumor A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors. tmpak2llvmy_mondo_relaxed.owl cardiac germ cell tumor|heart germ cell tumor NCIT:C147005 owl:Class MONDO:0013531 biolink:NamedThing PSPH deficiency 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. tmpak2llvmy_mondo_relaxed.owl 3-phosphoserine phosphatase deficiency|PSPH deficiency|PSPHD|phosphoserine phosphatase deficiency SCTID:124432005|UMLS:C1291463|ICD9:277.6|DOID:0050724|Orphanet:79350|OMIM:614023|ICD10:E72.8 owl:Class MONDO:0012073 biolink:NamedThing ribose-5-P isomerase deficiency Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. tmpak2llvmy_mondo_relaxed.owl ribose 5-phosphate isomerase deficiency SCTID:124667004|UMLS:C1291609|ICD9:277.6|MESH:C563212|Orphanet:440706|OMIM:608611 owl:Class HGNC:10297 biolink:NamedThing RPIA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013756 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|PDP, autosomal recessive|pachydermoperiostosis, autosomal recessive|PHOAR2|SLCO2A1 primary hypertrophic osteoarthropathy|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1 OMIM:614441|UMLS:C3280800 owl:Class HGNC:10955 biolink:NamedThing SLCO2A1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000017 biolink:NamedThing sand A naturally occurring granular material composed of finely divided rock and mineral particles. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00001995 biolink:NamedThing rock A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16q24.3 biolink:NamedThing chr16q24.3 (Human) tmpak2llvmy_mondo_relaxed.owl 90338345 88700000 hg38 owl:Class MONDO:0002912 biolink:NamedThing brainstem cancer A primary or metastatic malignant neoplasm that affects the brain stem. tmpak2llvmy_mondo_relaxed.owl brain stem cancer|brainstem cancer|malignant tumor of the brainstem|malignant brain stem neoplasm|tumor of the brainstem|malignant tumor of brainstem|neoplasm of brain stem|malignant brain stem tumor|malignant brainstem tumor|primary brain stem tumor|malignant tumor of brain stem|cancer of brainstem|primary brain stem neoplasm|malignant neoplasm of the brain stem|malignant neoplasm of brain stem|neoplasm of adult brain stem|malignant tumor of the brain stem|malignant neoplasm of the brainstem|malignant brainstem neoplasm|malignant neoplasm of brainstem SCTID:363473003|ICD9:191.7|ICD10:C71.7|MESH:D020295|NCIT:C3570|GARD:0008244|DOID:4203 https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer owl:Class NCBITaxon:1338369 biolink:NamedThing Dipnotetrapodomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:2000059 biolink:NamedThing prostate gland microvascular endothelial cell Any microvascular endothelial cell that is part of a prostate gland. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4400 TermGenie 2014-10-07T17:46:27Z cell owl:Class CL:0000550 biolink:NamedThing polychromatophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpak2llvmy_mondo_relaxed.owl polychromatic erythroblast|intermediate erythroblast|polychromatic normoblast|rubricyte|polychromatophilic normoblast|intermediate normoblast FMA:83506 cell owl:Class CL:0000549 biolink:NamedThing basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpak2llvmy_mondo_relaxed.owl early normoblast|early erythroblast|basophilic normoblast|prorubricyte FMA:83505 cell owl:Class CHEBI:59869 biolink:NamedThing L-alpha-amino acid zwitterion Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpak2llvmy_mondo_relaxed.owl L-alpha-amino acid zwitterions|an L-alpha-amino acid owl:Class CHEBI:15705 biolink:NamedThing L-alpha-amino acid Any alpha-amino acid having L-configuration at the alpha-carbon. tmpak2llvmy_mondo_relaxed.owl L-alpha-amino acids|L-2-Amino acid|L-alpha-amino acid|L-Amino acid owl:Class UBERON:0001902 biolink:NamedThing epithelium of small intestine An epithelium that is part of a small intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of small intestine|small bowel epithelial tissue|epithelium of small bowel|small intestine epithelium|small bowel epithelium|epithelial tissue of small bowel|small intestinal epithelium|small intestine epithelial tissue|mid intestine epithelium owl:Class GO:0070133 biolink:NamedThing negative regulation of mitochondrial translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl negative regulation of mitochondrial translation initiation owl:Class GO:0070124 biolink:NamedThing mitochondrial translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpak2llvmy_mondo_relaxed.owl mitochondrial translation initiation owl:Class UBERON:0006267 biolink:NamedThing notochordal plate The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007165 biolink:NamedThing signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. tmpak2llvmy_mondo_relaxed.owl signaling pathway|signal transduction by protein phosphorylation|signaling cascade|signal transduction by conformational transition|signalling pathway|signal transduction by trans-phosphorylation|signalling cascade|signal transduction by cis-phosphorylation owl:Class HGNC:24945 biolink:NamedThing GPIHBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003441 biolink:NamedThing forelimb nerve A nerve that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of forelimb|wing nerve|nerve of upper extremity|nerve of superior member|fore limb nerve|nerve of fore limb owl:Class MONDO:0011234 biolink:NamedThing auriculocondylar syndrome 1 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. tmpak2llvmy_mondo_relaxed.owl AURICULOCONDYLAR syndrome 1|Auriculocondylar syndrome 1|GNAI3 auriculocondylar syndrome|auriculocondylar syndrome caused by mutation in GNAI3|ARCND1|question Mark ears syndrome|Auriculocondylar syndrome type 1 OMIM:602483 owl:Class HGNC:4387 biolink:NamedThing GNAI3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002097 biolink:NamedThing skin of body The organ covering the body that consists of the dermis and epidermis. tmpak2llvmy_mondo_relaxed.owl entire skin|pelt|skin organ|entire integument|integumental organ|integument|skin owl:Class NCBITaxon:11039 biolink:NamedThing Western equine encephalitis virus tmpak2llvmy_mondo_relaxed.owl Western equine encephalomyelitis virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044876 biolink:NamedThing drug hypersensitivity syndrome A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. tmpak2llvmy_mondo_relaxed.owl Drug reaction with eosinophilia and Systemic symptoms|Drug hypersensitivity syndrome|dress|DHS NCIT:C112208 owl:Class MONDO:0012561 biolink:NamedThing congenital anomalies of kidney and urinary tract 1 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. tmpak2llvmy_mondo_relaxed.owl congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|congenital anomalies of kidney and urinary tract 1|CAKUT1|renal hypodysplasia, nonsyndromic, 1|DSTYK congenital anomaly of kidney and urinary tract MESH:C563661|UMLS:C1835826|OMIM:610805|DOID:0080206 owl:Class MONDO:0018627 biolink:NamedThing ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:443287|UMLS:CN237670 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: ACTH-independent Cushing syndrome' MONDO_0020529 owl:Class MONDO:0006174 biolink:NamedThing cortisol-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. tmpak2llvmy_mondo_relaxed.owl cortisol producing adrenal cortical adenoma|cortisol producing adrenal cortex adenoma|cortisol-producing adrenal cortex adenoma EFO:1000208|UMLS:C1707525|NCIT:C48449 owl:Class UBERON:0012085 biolink:NamedThing lumen of tertiary bronchus An anatomical cavity that is part of a segmental bronchus. tmpak2llvmy_mondo_relaxed.owl lumen of segmental bronchus|segmental bronchial lumen owl:Class GO:0005746 biolink:NamedThing mitochondrial respirasome The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpak2llvmy_mondo_relaxed.owl mitochondrial respiratory supercomplex|mitochondrial respiratory chain|mitochondrial respirasome|mitochondrial respiratory chain supercomplex|mitochondrial electron transport chain owl:Class MONDO:0100124 biolink:NamedThing NAA10-related syndrome NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl NAA10-related syndrome|X-linked syndromic intellectual disability caused by mutation in NAA10|NAA10 X-linked syndromic intellectual disability http://orcid.org/0000-0001-5208-3432 owl:Class GO:0047708 biolink:NamedThing biotinidase activity Catalysis of the reaction: biotin amide + H2O = biotin + NH3. tmpak2llvmy_mondo_relaxed.owl biotin-amide amidohydrolase activity|amidohydrolase biotinidase activity owl:Class MONDO:0010726 biolink:NamedThing Rett syndrome Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. tmpak2llvmy_mondo_relaxed.owl Rett syndrome, preserved speech variant|autism, dementia, ataxia, and loss of purposeful hand use|Rett syndrome, Zappella variant|Rts|Rett's disorder|Rett syndrome, atypical|Rett syndrome|RTT|cerebroatrophic hyperammonemia NCIT:C75488|MESH:D015518|OMIM:312750|ICD10:F84.2|ICD9:330.8|GARD:0005696|MedDRA:10039000|SCTID:68618008|Orphanet:778|UMLS:C0035372|DOID:1206 owl:Class UBERON:8000006 biolink:NamedThing left side of back Left part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:22744 biolink:NamedThing benzyl group tmpak2llvmy_mondo_relaxed.owl C6H5-CH2-|phenylalanine side-chain|Bn|phenylmethyl|benzyl owl:Class CHEBI:17578 biolink:NamedThing toluene The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. tmpak2llvmy_mondo_relaxed.owl phenylmethane|toluene|Toluol|TOLUENE|methylbenzene|Toluen|Toluene owl:Class HGNC:8743 biolink:NamedThing PCSK1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000095 biolink:NamedThing cardiac neural crest portion of neural crest that develops from the dorsal neural tube. It overlaps the vagal neural crest and migrates to populate the pharyngeal arches 3, 4 and 6 (producing structures in the head) and to the heart, forming connective tissue that separates the great vessels of the heart. [Wikipedia] tmpak2llvmy_mondo_relaxed.owl cardiac neural crest complex|complexus cristae neuralis cardiacus owl:Class UBERON:0007135 biolink:NamedThing neural keel An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. tmpak2llvmy_mondo_relaxed.owl presumptive central nervous system owl:Class MONDO:0009495 biolink:NamedThing Keutel syndrome Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|Keutel syndrome|KEUTEL syndrome|pulmonic stenosis brachytelephalangism and calcification of cartilages|pulmonic stenosis, brachytelephalangism, and calcification of cartilages|KTLS GARD:0008449|SCTID:724208006|MESH:C536167|UMLS:C1855607|OMIM:245150|ICD10:Q87.8|Orphanet:85202 https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome owl:Class HGNC:7060 biolink:NamedThing MGP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004061 biolink:NamedThing neural tube mantle layer The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. tmpak2llvmy_mondo_relaxed.owl future brain marginal layer|neural tube intermediate zone owl:Class UBERON:0004022 biolink:NamedThing germinal neuroepithelium The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells tmpak2llvmy_mondo_relaxed.owl germinal neuroepithelial layer|original neural tube|germinal neuroepithelium owl:Class UBERON:0007301 biolink:NamedThing appendage blood vessel A blood vessel that is part of a limb/fin. tmpak2llvmy_mondo_relaxed.owl limb blood vessel|fin blood vessel owl:Class UBERON:0007304 biolink:NamedThing appendage vasculature A vasculature that is part of a limb/fin. tmpak2llvmy_mondo_relaxed.owl fin vasculature owl:Class HGNC:1160 biolink:NamedThing TWNK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014842 biolink:NamedThing intellectual disability, autosomal dominant 41 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 41|autosomal dominant mental retardation 41|intellectual disability, autosomal dominant 41|mental retardation, autosomal dominant type 41|MRD41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|intellectual disability, autosomal dominant type 41|mental retardation, autosomal dominant 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability 41 OMIM:616944|UMLS:C4310784|DOID:0070071 owl:Class HGNC:29529 biolink:NamedThing TBL1XR1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010005 biolink:NamedThing placental labyrinth villous The vascularized and branched structures arising from the rodent trophoblast-derived epithelium that allow an increase its surface area for the efficient exchange of nutrients and wastes between the maternal and fetal circulation tmpak2llvmy_mondo_relaxed.owl placental labyrinth villi|villous of placental labyrinth owl:Class UBERON:0003946 biolink:NamedThing placenta labyrinth The placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood tmpak2llvmy_mondo_relaxed.owl labyrinthine layer of placenta|labyrinthine layer|placental labyrinth owl:Class UBERON:0034721 biolink:NamedThing pharyngeal taste bud A taste bud that is located in the pharynx. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015580 biolink:NamedThing distal monosomy 7q36 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. tmpak2llvmy_mondo_relaxed.owl monosomy 7qter|distal monosomy type 7q36|distal deletion 7q36|telomeric deletion 7q36 Orphanet:1636|SCTID:763529005|ICD10:Q93.5 owl:Class MONDO:0001995 biolink:NamedThing sphenoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of sphenoidal sinus|sphenoid sinus squamous cell carcinoma|epidermoid carcinoma of sphenoid sinus|epidermoid carcinoma of the sphenoid sinus|squamous cell carcinoma of the sphenoid sinus|sphenoidal sinus squamous cell carcinoma|sphenoid sinus epidermoid carcinoma|sphenoidal sinus epidermoid carcinoma|squamous cell carcinoma of the sphenoidal sinus|epidermoid carcinoma of sphenoidal sinus|epidermoid carcinoma of the sphenoidal sinus|squamous cell carcinoma of sphenoid sinus UMLS:C1336039|SCTID:707355002|NCIT:C6066|DOID:14547 owl:Class UBERON:0001724 biolink:NamedThing sphenoidal sinus One of the paired paranasal sinuses, located in the body of the sphenoid bone and communicating with the highest meatus of the nasal cavity on the same side[MESH]. The sphenoidal sinuses (or sphenoid) contained within the body of the sphenoid vary in size and shape; owing to the lateral displacement of the intervening septum they are rarely symmetrical. The following are their average measurements: vertical height, 2.2 cm. ; transverse breadth, 2 cm. ; antero-posterior depth, 2.2 cm. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl sphenoid sinus|sinus sphenoidalis owl:Class UBERON:0001647 biolink:NamedThing facial nerve Cranial nerve that branches into the supraorbital (supplying the skin of the eye region and the lateral line organs here), the palatine (to the roof of the buccal cavity), and the hyomandibular (dividing into the jugular and mental branches). tmpak2llvmy_mondo_relaxed.owl nervus facialis|facial nerve tree|facial nerve or its root|facial VII nerve|facial VII|face nerve|nerve of face|cranial nerve VII|seventh cranial nerve|7n|facial nerve/root|facial nerve [VII]|branchiomeric cranial nerve|CN-VII|nervus facialis [vii]|nerve VII owl:Class UBERON:0001033 biolink:NamedThing gustatory system The sensory system for the sense of taste. tmpak2llvmy_mondo_relaxed.owl gustatory organ system|taste system owl:Class UBERON:0013637 biolink:NamedThing prostate gland lateral lobe The prostate gland lobe that is located on the lateral side of the organ. tmpak2llvmy_mondo_relaxed.owl lateral lobe of prostate|lateral prostate|lateral ventral lobe of prostate gland|lateral lobe of prostate gland owl:Class UBERON:0019198 biolink:NamedThing dorsal nerve of clitoris The deep terminal division of the pudendal nerve that runs along the dorsum of the clitoral shaft and innervates the the glans clitoris. tmpak2llvmy_mondo_relaxed.owl nervus dorsalis clitoridis|dorsal nerve of the clitoris owl:Class UBERON:0006653 biolink:NamedThing glans clitoris Erectile tissue at the end of the clitoris, which is continuous with the intermediate part of the vestibulovaginal bulbs[BTO]. The clitoral glans (glans clitoridis) is an external portion of the clitoris[WP]. tmpak2llvmy_mondo_relaxed.owl clitoris glans|glans clitoridis|glans of clitoris|glans clitoris owl:Class ENVO:01001690 biolink:NamedThing mass of liquid An object which is composed primarily of a liquid. tmpak2llvmy_mondo_relaxed.owl liquid mass owl:Class MONDO:0014113 biolink:NamedThing cardiofaciocutaneous syndrome 3 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. tmpak2llvmy_mondo_relaxed.owl cardiofaciocutaneous syndrome caused by mutation in MAP2K1|CFC3|cardiofaciocutaneous syndrome type 3|cardiofaciocutaneous syndrome 3|MAP2K1 cardiofaciocutaneous syndrome OMIM:615279|DOID:0111462|UMLS:C3809006 owl:Class HGNC:6840 biolink:NamedThing MAP2K1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024878 biolink:NamedThing secondary carcinoma A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment. tmpak2llvmy_mondo_relaxed.owl secondary carcinoma UMLS:C0085668|NCIT:C36310 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0000958 biolink:NamedThing neuroretinitis Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina. tmpak2llvmy_mondo_relaxed.owl Juxtapapillary focal retinitis and retinochoroiditis|focal retinitis and retinochoroiditis, juxtapapillary|papilloretinitis ICD10:H30.9|ICD9:363.05|UMLS:C0154874|DOID:10176 owl:Class UBERON:0001793 biolink:NamedThing nerve fiber layer of retina layer of the retina formed by expansion of the fibers of the optic nerve tmpak2llvmy_mondo_relaxed.owl neural retina nerve fibre layer|optic fiber layer|stratum neurofibrarum retinae|optic fiber layers|nerve fiber layer|stratum neurofibrarum (retina)|layer of nerve fibres of retina|layer of nerve fibers of retina|stratum opticum of retina|retina nerve fiber layer|stratum neurofibrum retinae owl:Class MONDO:0003275 biolink:NamedThing middle ear cancer A malignant neoplasm involving the middle ear tmpak2llvmy_mondo_relaxed.owl malignant middle Ear tumor|malignant neoplasm of the middle Ear|tumor of the middle ear|malignant middle ear neoplasm|malignant neoplasm of middle ear|cancer of middle ear|middle ear cancer|malignant tumor of the middle Ear|malignant tumor of middle Ear NCIT:C4765|SCTID:363359008|DOID:5099 owl:Class MONDO:0007664 biolink:NamedThing glaucoma 1, open angle, A Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene. tmpak2llvmy_mondo_relaxed.owl GLC1A|MYOC juvenile open angle glaucoma|glaucoma 1, open angle, A|primary open angle glaucoma juvenile onset 1|juvenile open angle glaucoma caused by mutation in MYOC|JOAG1|glaucoma hereditary, juvenile|glaucoma 1, open angle, 50|MYOC juvenile glaucoma|glaucoma 1, open angle, type A|glaucoma, primary open angle, juvenile-onset, 1|JOAG1A|juvenile glaucoma caused by mutation in MYOC OMIM:137750|GARD:0009485|UMLS:C1842028|MESH:C564234 owl:Class HGNC:7610 biolink:NamedThing MYOC tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4696 biolink:NamedThing GUSB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006123 biolink:NamedThing cardiac rhabdomyoma A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis. tmpak2llvmy_mondo_relaxed.owl heart rhabdomyoma|cardiac rhabdomyoma (disease)|rhabdomyoma of the heart|cardiac rhabdomyoma|rhabdomyoma of heart cardiac rhabdomyoma (disease) NCIT:C6739|EFO:1000150|HP:0009729|UMLS:C1332852 owl:Class GO:0030595 biolink:NamedThing leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl leucocyte chemotaxis|immune cell chemotaxis owl:Class CL:0000712 biolink:NamedThing stratum granulosum cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0004010 biolink:NamedThing infiltrating renal pelvis/ureter urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating ureter transitional cell carcinoma|infiltrating renal pelvis and ureter transitional cell carcinoma NCIT:C39879|UMLS:C1512750 owl:Class MONDO:0014882 biolink:NamedThing hereditary spastic paraplegia 77 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 77|spastic paraplegia 77, autosomal recessive|autosomal recessive spastic paraplegia type 77|hereditary spastic paraplegia type 77|FARS2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FARS2|SPG77 ICD10:G11.4|DOID:0110822|OMIM:617046|UMLS:C4310750|Orphanet:466722 owl:Class GO:0042470 biolink:NamedThing melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009831 biolink:NamedThing malignant pancreatic neoplasm A malignant neoplasm involving the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreas neoplasm|pancreas cancer|malignant neoplasm of the pancreas|malignant neoplasm of tail of pancreas|cancer of pancreas|malignant pancreatic neoplasm|malignant neoplasm of pancreas|malignant pancreas neoplasm|Ca tail of pancreas|pancreatic cancer|Ca body of pancreas|malignant neoplasm of body of pancreas|malignant neoplasm of head of pancreas|Ca head of pancreas ICD9:157.1|DOID:1793|EFO:1000359|ICD9:157.8|ICD9:157.2|ICD10:C25.9|ICD9:157.0|KEGG:05212|NCIT:C9005 owl:Class HGNC:17245 biolink:NamedThing CPA6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005636 biolink:NamedThing caecum epithelium An epithelium that is part of a caecum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023283 biolink:NamedThing ovarian granulosa cell tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. tmpak2llvmy_mondo_relaxed.owl adult granulosa cell tumor of the ovary|granulosa cell neoplasm of the ovary|granulosa cell tumor of ovary|granulosa cell neoplasm of ovary|ovarian granulosa cell neoplasm|ovary granulosa cell tumor|GCT of the ovary|granulosa theca cell tumor of the ovary|granulosa cell tumor of the ovary|ovarian granulosa cell tumor|granulosa theca cell tumor SCTID:254863004|MESH:C537296|NCIT:C6261|EFO:1000421|UMLS:C1370419 owl:Class MONDO:0012012 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate C Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease caused by mutation in YARS|Charcot-Marie-Tooth disease, dominant Intermediate type C|Charcot-Marie-Tooth neuropathy dominant intermediate C|CMTDIC|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease dominant intermediate type C|YARS Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|Di-Cmtc|Charcot-Marie-Tooth neuropathy, dominant Intermediate C|DI-CMTC|Charcot-Marie-Tooth disease, dominant intermediate C GARD:0012439|UMLS:C1842237|ICD10:G60.0|SCTID:765746008|Orphanet:100045|OMIM:608323|MESH:C564257|DOID:0110199 owl:Class HGNC:12840 biolink:NamedThing YARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002225 biolink:NamedThing ovarian sarcoma A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl ovary sarcoma|sarcoma of the ovary|ovarian sarcoma|sarcoma of ovary DOID:2146|SCTID:423627007|NCIT:C8267|UMLS:C0280746 owl:Class MONDO:0009689 biolink:NamedThing congenital myasthenic syndrome 6 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl CMS w/episodic apnea|myasthenia gravis, familial infantile, 2, formerly|FIMG2 (formerly)|FIMG2, formerly|congenital myasthenic syndrome caused by mutation in CHAT|myasthenic syndrome congenital associated with episodic apnea|myasthenia, familial infantile, formerly|myasthenic syndrome, congenital, associated with episodic apnea|myasthenia, familial infantile|CMS Ia2|myasthenia familial infantile|congenital myasthenic syndrome 6, presynaptic|congenital myasthenic syndrome type Ia2|CMS Ia2, formerly|myasthenic syndrome, congenital, 6, presynaptic|congenital myasthenic syndrome type Ia|congenital myasthenic syndrome 6|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type 6|congenital myasthenic syndrome with episodic apnea|FIM|CMS6|FIM, formerly|congenital presynaptic myasthenic syndrome associated with episodic apnea|CMS1A2, formerly|Cms Ia2, formerly|presynaptic congenital myasthenic syndrome 6|familial infantile myasthenia|myasthenia gravis, familial infantile, 2|congenital myasthenic syndrome type Ia2, formerly|congenital myasthenic syndrome type 1a|CMS-ea|CMSEA|FIMG2|CMS1A|myasthenia gravis familial infantile 2 (formerly)|familial infantile myasthenia gravis 2|CHAT congenital myasthenic syndrome|CMS1A2|Cms Ia2 GARD:0009689|DOID:0110671|SCTID:230670003|MESH:C535759|OMIM:254210|UMLS:C0393929|ICD9:358.00|NCIT:C132292 https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea owl:Class HGNC:1912 biolink:NamedThing CHAT tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp11 biolink:NamedThing chrXp11 (Human) tmpak2llvmy_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class OBO:CHR_9606-chr9q2 biolink:NamedThing chr9q2 (Human) tmpak2llvmy_mondo_relaxed.owl 99800000 65000000 hg38 owl:Class CHEBI:26836 biolink:NamedThing sulfuric acid A sulfur oxoacid that consists of two oxo and two hydroxy groups joined covalently to a central sulfur atom. tmpak2llvmy_mondo_relaxed.owl sulphuric acid|Sulfuric acid|dihydroxidodioxidosulfur|Schwefelsaeureloesungen|sulfuric acid|[S(OH)2O2]|[SO2(OH)2]|H2SO4|Acido sulfurico|tetraoxosulfuric acid|dihydrogen tetraoxosulfate|Acidum sulfuricum|Acide sulfurique|hydrogen tetraoxosulfate(VI)|hydrogen tetraoxosulfate(2-) owl:Class CHEBI:35223 biolink:NamedThing catalyst A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction. tmpak2llvmy_mondo_relaxed.owl catalizador|Katalysator|catalyseur|catalyst owl:Class MONDO:0014178 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. tmpak2llvmy_mondo_relaxed.owl inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|IBMPFD2|multisystem Proteinopathy 2|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 UMLS:C3809468|DOID:0111384|OMIM:615422 owl:Class HGNC:5033 biolink:NamedThing HNRNPA2B1 tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000007857 biolink:NamedThing erythroid transcription factor tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002592 biolink:NamedThing invasive malignant thymoma A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. tmpak2llvmy_mondo_relaxed.owl invasive malignant thymoma|thymoma malignant invasive|infiltrating thymoma|malignant thymoma, invasive UMLS:C0278846|DOID:3283|NCIT:C7904 owl:Class HP:0002486 biolink:NamedThing Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. tmpak2llvmy_mondo_relaxed.owl Delayed relaxation of muscle fibers after contraction|Delayed relaxation of muscle fibres after contraction SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222 Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. HP:0003754|HP:0003632|HP:0003792 human_phenotype owl:Class UBERON:0004240 biolink:NamedThing gall bladder smooth muscle A portion of smooth muscle tissue that is part of a gallbladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gallbladder smooth muscle tissue|smooth muscle of gallbladder|involuntary muscle of gall bladder|gallbladder smooth muscle|involuntary muscle of gallbladder|gallbladder involuntary muscle|gall bladder smooth muscle tissue|biliary smooth muscle|gall bladder non-striated muscle|gall bladder involuntary muscle|non-striated muscle of gall bladder|non-striated muscle of gallbladder|smooth muscle tissue of gall bladder|smooth muscle of gall bladder|smooth muscle tissue of gallbladder|gallbladder non-striated muscle owl:Class UBERON:0005399 biolink:NamedThing male reproductive gland A sex gland that is part of a male reproductive system. tmpak2llvmy_mondo_relaxed.owl accessory sex gland owl:Class GO:0031012 biolink:NamedThing extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. tmpak2llvmy_mondo_relaxed.owl proteinaceous extracellular matrix|matrisome owl:Class MONDO:0013212 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2N Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. tmpak2llvmy_mondo_relaxed.owl AARS Charcot-Marie-Tooth disease type 2|CMT2N|autosomal dominant Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS|Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease, axonal, type 2N GARD:0012429|OMIM:613287|UMLS:C4304671|DOID:0110177|ICD10:G60.0|MESH:C567653|UMLS:C2750090|SCTID:719515001|Orphanet:228174 owl:Class HGNC:20 biolink:NamedThing AARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2860 biolink:NamedThing DHCR7 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000988 biolink:NamedThing Skin rash A red eruption of the skin. tmpak2llvmy_mondo_relaxed.owl Rash|Skin rash UMLS:C0015230|SNOMEDCT_US:271807003|SNOMEDCT_US:112625008|MEDDRA:10037844|MSH:D005076 human_phenotype owl:Class UBERON:0005997 biolink:NamedThing tricuspid valve anulus The fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp) tmpak2llvmy_mondo_relaxed.owl tricuspid anulus|anulus of tricuspid valve|fibrous ring of tricuspid valve|tricuspid valvar anulus owl:Class MONDO:0009992 biolink:NamedThing myoglobinuria, acute recurrent, autosomal recessive tmpak2llvmy_mondo_relaxed.owl myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent|myoglobinuria, acute recurrent, autosomal recessive OMIM:268200|UMLS:C1849386|MESH:C564832 owl:Class HGNC:13345 biolink:NamedThing LPIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006621 biolink:NamedThing vulvar inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. tmpak2llvmy_mondo_relaxed.owl inverted follicular keratosis of mammalian vulva|mammalian vulva inverted follicular keratosis EFO:1000778|DOID:6943|UMLS:C1520084|NCIT:C40291 owl:Class UBERON:0006268 biolink:NamedThing notochordal process A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot tmpak2llvmy_mondo_relaxed.owl presumptive notochord|chordamesoderm owl:Class UBERON:0007375 biolink:NamedThing roof of mouth A multi-tissue structure consisting of bone and soft tissue that forms a part of the roof of the oral cavity. In mammals this is the combination of the primary palate (premaxilla) and the secondary palate. In early tetrapods it consists of the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones. tmpak2llvmy_mondo_relaxed.owl palatum|primary or secondary palate|roof of buccal cavity|roof of oral cavity|palate owl:Class MONDO:0100112 biolink:NamedThing acyl-CoA binding domain containing protein 5 deficiency A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. tmpak2llvmy_mondo_relaxed.owl acyl-CoA binding domain containing protein 5 deficiency|ACBD5 deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:23338 biolink:NamedThing ACBD5 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q biolink:NamedThing chr8q (Human) tmpak2llvmy_mondo_relaxed.owl 145138636 45200000 hg38 owl:Class GO:0005635 biolink:NamedThing nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022278 biolink:NamedThing nucleus of pudendal nerve A nucleus in the ventral part of the anterior horn of the sacral region of the spinal cord that is the origin of the pudendal nerve. tmpak2llvmy_mondo_relaxed.owl nucleus of Onuf|Onuf's nucleus|pudendal neural nucleus owl:Class UBERON:0005853 biolink:NamedThing sacral spinal cord ventral column A subdivision of spinal cord ventral column that is part of a sacral spinal cord. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006195 biolink:NamedThing endometrial polyp A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported. tmpak2llvmy_mondo_relaxed.owl polyp of endometrium|endometrial polyp|polyp of the endometrium|endometrial stromal polyp|endometrium polyp|polyp, endometrial stromal, benign EFO:1000237|NCIT:C6433 owl:Class MONDO:0024630 biolink:NamedThing defective phagocytic cell chemotaxis tmpak2llvmy_mondo_relaxed.owl defective phagocytic cell chemotaxis SCTID:234580003|ICD9:279.8|UMLS:C0398735 owl:Class UBERON:0010338 biolink:NamedThing 1st arch maxillary mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch maxillary mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004867 biolink:NamedThing orbital cavity Anatomical cavity bounded by the orbital region of the cranium and forming the location of some or all of the eye. tmpak2llvmy_mondo_relaxed.owl orbit owl:Class GO:0060610 biolink:NamedThing mesenchymal cell differentiation involved in mammary gland development The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts. tmpak2llvmy_mondo_relaxed.owl mammary gland mesenchymal cell differentiation owl:Class OBO:CHR_9606-chr16q24.1 biolink:NamedThing chr16q24.1 (Human) tmpak2llvmy_mondo_relaxed.owl 87000000 84100000 hg38 owl:Class UBERON:0004400 biolink:NamedThing bone tissue of epiphysis A portion of bone tissue that is part of a epiphysis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015228 biolink:NamedThing circulatory organ A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. tmpak2llvmy_mondo_relaxed.owl cardiac structure|circulatory vessel|heart|cardiac pump|heart or heart like organ owl:Class PATO:0001690 biolink:NamedThing contractile A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004116 biolink:NamedThing nerve of tympanic cavity A nerve that is part of a tympanic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of anatomical cavity of middle ear|nerve of middle ear anatomical cavity|nerve of cavity of middle ear|tympanic cavity nerve|tympanic cavity nerves|anatomical cavity of middle ear nerve|middle ear anatomical cavity nerve|cavity of middle ear nerve|middle ear cavity nerve|nerve of middle ear cavity owl:Class MONDO:0011112 biolink:NamedThing Wilms tumor 5 Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. tmpak2llvmy_mondo_relaxed.owl WT5|Wilms tumor and radial bilateral aplasia|Wilms tumor 5|Wilms tumor type 5|Wilms tumor, susceptibility to|bilateral radial aplasia with Wilms tumor OMIM:601583|MESH:C536707|GARD:0005578 owl:Class HGNC:21694 biolink:NamedThing POU6F2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005333 biolink:NamedThing mammary bud A bulb of epithelial cells that forms from the mammary placode that develops into the mammary gland. tmpak2llvmy_mondo_relaxed.owl lactiferous gland bud|milk bud|mammary gland bud|mammary primordium owl:Class UBERON:0005311 biolink:NamedThing mammary placode The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper[GO]. tmpak2llvmy_mondo_relaxed.owl mammary anlage owl:Class UBERON:0000400 biolink:NamedThing jejunal epithelium An epithelium that is part of a jejunum. tmpak2llvmy_mondo_relaxed.owl epithelium of jejunum owl:Class MONDO:0020737 biolink:NamedThing optic atrophy 10 with or without ataxia, intellectual disability, and seizures tmpak2llvmy_mondo_relaxed.owl optic atrophy 10 with or without ataxia, intellectual disability, and seizures|OPA10|optic atrophy 10 with or without ataxia, mental retardation, and seizures OMIM:616732|DOID:0111434 owl:Class HGNC:18647 biolink:NamedThing RTN4IP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000922 biolink:NamedThing embryo Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpak2llvmy_mondo_relaxed.owl developing organism|embryonic organism|developmental tissue owl:Class GO:0045843 biolink:NamedThing negative regulation of striated muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. tmpak2llvmy_mondo_relaxed.owl downregulation of striated muscle development|down regulation of striated muscle development|down-regulation of striated muscle development|inhibition of striated muscle development owl:Class MONDO:0011950 biolink:NamedThing infantile-onset autosomal recessive nonprogressive cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia infantile nonprogressive autosomal recessive|Norwegian infantile onset ataxia|spinocerebellar ataxia, autosomal recessive 6|cerebellar ataxia, infantile nonprogressive, autosomal recessive|autosomal recessive spinocerebellar ataxia type 6|SCAR6|spinocerebellar ataxia autosomal recessive 6 MESH:C537312|ICD10:G11.0|Orphanet:284332|DOID:0111617|UMLS:C1842676|GARD:0004954|OMIM:608029 owl:Class NCBITaxon:4859 biolink:NamedThing Basidiobolus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100347 biolink:NamedThing carcinoid syndrome tmpak2llvmy_mondo_relaxed.owl carcinoid syndrome|carcinoid tumor syndrome|malignant carcinoid syndrome|carcinoid tumors, intestinal EFO:1000852|SCTID:35868009|ICD10:E34.0|ICD9:259.2|Orphanet:100093|GARD:0005994|NCIT:C3215|MedDRA:10007270 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome owl:Class HGNC:3603 biolink:NamedThing FBN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023165 biolink:NamedThing florid cystic endosalpingiosis of the uterus tmpak2llvmy_mondo_relaxed.owl intramural florid cystic endosalpingiosis of the uterus|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis MESH:C537064|UMLS:C2931410|GARD:0000130 https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus owl:Class UBERON:0001179 biolink:NamedThing peritoneal cavity Anatomical cavity bounded by visceral and parietal peritoneum tmpak2llvmy_mondo_relaxed.owl saccus serosus peritonei|cavitas peritonealis owl:Class ECTO:9001694 biolink:NamedThing exposure to antibacterial agent An exposure to antibacterial agent. tmpak2llvmy_mondo_relaxed.owl exposure to antibacterial agent owl:Class CHEBI:33282 biolink:NamedThing antibacterial agent A substance (or active part thereof) that kills or slows the growth of bacteria. tmpak2llvmy_mondo_relaxed.owl bactericides|antibacterial agents|antibacterials|bactericide owl:Class UBERON:0002465 biolink:NamedThing lymphoid system The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. tmpak2llvmy_mondo_relaxed.owl lymphatic circulatory system|lymphatic system|systema lymphoideum|lymphatic drainage system owl:Class MONDO:0016255 biolink:NamedThing uterine corpus mixed epithelial and mesenchymal neoplasm A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma. tmpak2llvmy_mondo_relaxed.owl mixed epithelial and mesenchymal cancer of corpus uteri|malignant mixed epithelial and mesenchymal tumor of corpus uteri|body of uterus mixed neoplasm|uterine corpus mixed epithelial and mesenchymal tumor|uterine corpus mixed epithelial and mesenchymal neoplasm Orphanet:213589|UMLS:C1519858|ICD10:C54.1|NCIT:C40181|ICD10:C54.3|ICD10:C54.8|ICD10:C54.0|ICD10:C54.2 Editor note: Consider placing Orphanet equiv with subclass (malignant form) owl:Class MONDO:0008495 biolink:NamedThing platelet storage pool deficiency Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. tmpak2llvmy_mondo_relaxed.owl storage pool platelet disease|alpha dense granule deficiency|platelet storage pool diseases|dense body defect|alpha delta granule deficiency|platelet storage pool defect|platelet dense granule deficiency|combined alpha-delta platelet storage pool deficiency ICD10:D69.1|SCTID:234474009|OMIM:185050|GARD:0005034|MESH:D010981|EFO:1001112|Orphanet:734|DOID:2223 https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency owl:Class UBERON:0003597 biolink:NamedThing manual digit connective tissue A portion of connective tissue that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of finger|connective tissue of digitus manus|connective tissue of hand digit|hand digit connective tissue|connective tissue of digit of hand|fore limb digit connective tissue owl:Class MONDO:0011370 biolink:NamedThing Stargardt disease 4 Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene. tmpak2llvmy_mondo_relaxed.owl Stargardt disease 4|Stargardt disease caused by mutation in PROM1|PROM1 Stargardt disease|STGD4|Stargardt disease type 4 OMIM:603786|MESH:C535521|UMLS:C1863534 owl:Class MONDO:0020711 biolink:NamedThing selective peripheral resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. tmpak2llvmy_mondo_relaxed.owl PerRTH owl:Class MONDO:0011452 biolink:NamedThing hypotrichosis 7 Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene. tmpak2llvmy_mondo_relaxed.owl Wh/Ht|hypotrichosis type 7|Lah2|hypotrichosis, localized, autosomal recessive 2|alopecia universalis congenita, Mari type|hypotrichosis 7|LIPH hypotrichosis|hypotrichosis, total, Mari type|Mari type alopecia universalis congenita|total Mari type hypotrichosis,|hypotrichosis caused by mutation in LIPH|woolly hair, autosomal recessive 2, with or without hypotrichosis|hypotrichosis, autosomal recessive|HYPT7|total hypotrichosis, Mari type EFO:0009163|GARD:0008178|MESH:C536973|DOID:0110704|OMIM:604379 owl:Class HGNC:18483 biolink:NamedThing LIPH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016225 biolink:NamedThing specific learning disability Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V) tmpak2llvmy_mondo_relaxed.owl specific learning disorder|specific learning difficulty UMLS:CN226885|MESH:D000067559|Orphanet:211047 owl:Class GO:0000096 biolink:NamedThing sulfur amino acid metabolic process The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. tmpak2llvmy_mondo_relaxed.owl sulphur amino acid metabolic process|sulphur amino acid metabolism|sulfur amino acid metabolism owl:Class MONDO:0018014 biolink:NamedThing transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. tmpak2llvmy_mondo_relaxed.owl transient neonatal glutaric acidemia type 2|transient neonatal MAD deficiency|transient neonatal MADD|transient neonatal glutaric aciduria type 2 UMLS:CN204228|ICD10:E71.3|SCTID:723552005|Orphanet:329942 owl:Class HP:0025153 biolink:NamedThing Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. tmpak2llvmy_mondo_relaxed.owl 2016-12-03 22:19:26+00:00 HPO:probinson human_phenotype owl:Class UBERON:0012249 biolink:NamedThing ectocervix The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium. tmpak2llvmy_mondo_relaxed.owl vaginal part of cervix|exocervix|portio vaginalis cervicis|ectocervix|portio vaginalis|uterine ectocervix owl:Class UBERON:0010027 biolink:NamedThing dorsal part of pharyngeal pouch 4 tmpak2llvmy_mondo_relaxed.owl dorsal 4th branchial pouch|dorsal branchial pouch 4 endoderm|dorsal pharyngeal pouch 4|dorsal pharyngeal pouch 4 endoderm owl:Class UBERON:0007125 biolink:NamedThing pharyngeal pouch 4 A pharyngeal pouch between pharyngeal arch 4 and arch 5 or 6 (a fifth arch never establishes in amniotes). tmpak2llvmy_mondo_relaxed.owl 4th arch branchial pouch endoderm|fourth branchial pouch|visceral pouch 4|fourth pharyngeal pouch|fourth visceral pouch|fourth arch pharyngeal pouch|pharyngeal pouches 4|4th arch branchial pouch|4th pharyngeal pouch endoderm|4th branchial pouch owl:Class MONDO:0007361 biolink:NamedThing C1 inhibitor deficiency tmpak2llvmy_mondo_relaxed.owl complement component 4, partial deficiency OF OMIM:120790|UMLS:C1852700|DOID:0060002|ICD10:D84.1|Orphanet:459353 owl:Class HP:0004431 biolink:NamedThing Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. tmpak2llvmy_mondo_relaxed.owl UMLS:C0272242|SNOMEDCT_US:24743004 peter 2008-03-18T09:51:00Z human_phenotype owl:Class CL:0000499 biolink:NamedThing stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. tmpak2llvmy_mondo_relaxed.owl FMA:83624|BTO:0002064 cell owl:Class UBERON:0007644 biolink:NamedThing thoracic lymph node A lymph node that is part of a thorax. Includes lymph nodes of the lungs and mediastinal lymph nodes tmpak2llvmy_mondo_relaxed.owl lymph node of thorax|deep thoracic lymph node owl:Class CL:0000210 biolink:NamedThing photoreceptor cell A cell specialized to detect and transduce light. tmpak2llvmy_mondo_relaxed.owl BTO:0001060|FMA:86740|CALOHA:TS-0868|FBbt:00004211 cell owl:Class GO:0001525 biolink:NamedThing angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. tmpak2llvmy_mondo_relaxed.owl blood vessel formation from pre-existing blood vessels owl:Class MONDO:0014219 biolink:NamedThing alacrima, achalasia, and intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl GMPPA-CDG|alacrima, achalasia, and intellectual disability syndrome|AAMR|alacrima, achalasia, and mental retardation syndrome UMLS:C3809738|GARD:0012404|OMIM:615510 owl:Class HGNC:22923 biolink:NamedThing GMPPA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010326 biolink:NamedThing intellectual disability, X-linked 46 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. tmpak2llvmy_mondo_relaxed.owl ARHGEF6 non-syndromic X-linked intellectual disability|mental retardation, X-linked 46|intellectual disability, X-linked type 46|non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|MRX46|mental retardation, X-linked type 46|intellectual disability, X-linked 46 MESH:C564513|UMLS:C1845526|OMIM:300436 owl:Class HGNC:685 biolink:NamedThing ARHGEF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002605 biolink:NamedThing hepatic angiomyolipoma An angiomyolipoma arising from the liver. tmpak2llvmy_mondo_relaxed.owl liver angiomyolipoma|liver PEComa UMLS:C1333962|NCIT:C27485|DOID:3317 owl:Class CHEBI:23849 biolink:NamedThing diterpenoid Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). tmpak2llvmy_mondo_relaxed.owl diterpenoides|diterpenoids|C20 isoprenoids owl:Class CHEBI:35190 biolink:NamedThing diterpene A C20 terpene. tmpak2llvmy_mondo_relaxed.owl diterpenos|diterpenes|Diterpen|diterpeno owl:Class UBERON:0011156 biolink:NamedThing facial skeleton Subdivision of skull that consists of the facial bones. tmpak2llvmy_mondo_relaxed.owl ossa faciei|facial bone|facial skeleton|viscerocranium|ossa facialia owl:Class MONDO:0011466 biolink:NamedThing distal myopathy, Welander type Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. tmpak2llvmy_mondo_relaxed.owl Welander distal myopathy, Swedish type|distal myopathy, Swedish type|muscular dystrophy, distal, late-onset, autosomal dominant|myopathy, distal, Swedish|WDM|Welander distal myopathy ICD10:G71.0|OMIM:604454|GARD:0005552|Orphanet:603|UMLS:CN205368 owl:Class HGNC:11802 biolink:NamedThing TIA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011639 biolink:NamedThing Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia 15 with mandibulofacial dysostosis|DBA15|Diamond-Blackfan anemia caused by mutation in RPS28|RPS28 Diamond-Blackfan anemia UMLS:C1853576|OMIM:606164|UMLS:C4225411 Not in the OMIM series 105650. owl:Class HGNC:10418 biolink:NamedThing RPS28 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010186 biolink:NamedThing vitamin D-dependent rickets, type 2A Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. tmpak2llvmy_mondo_relaxed.owl rickets, hereditary vitamin D-resistant|vitamin D receptor deficiency rickets|hypocalcemic vitamin D-resistant rickets|generalized resistance to 1,25-dihydroxyvitamin D|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|VDDR2A|vitamin D-dependent rickets, type 2A|vitamin D dependent rickets 2a|vitamin D-dependent rickets, type 2A, with or without alopecia|vitamin d-dependent rickets type II with alopecia|rickets-alopecia syndrome|VDR vitamin D-dependent rickets, type 2|Pseudovitamin D-deficiency, type 2A|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia|Pddr 2A|vitamin D-dependent rickets, type 2 caused by mutation in VDR UMLS:C0342646|SCTID:237894002|OMIM:277440|NCIT:C131075 owl:Class HGNC:12679 biolink:NamedThing VDR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014280 biolink:NamedThing immunodeficiency 19 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. tmpak2llvmy_mondo_relaxed.owl CD3-Delta deficiency|CD3delta deficiency|CD3D severe combined immunodeficiency (disease)|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency (disease) caused by mutation in CD3D|immunodeficiency 19|CD3D|SCID, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency type 19|IMD19 OMIM:615617|UMLS:C3810147|DOID:0060016 owl:Class HP:0004430 biolink:NamedThing Severe combined immunodeficiency A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. tmpak2llvmy_mondo_relaxed.owl Immunodeficiency, severe combined SNOMEDCT_US:31323000|UMLS:C0085110|MSH:D016511 peter 2008-03-18T09:46:00Z human_phenotype owl:Class UBERON:0001157 biolink:NamedThing transverse colon The proximal-distal subdivision of colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure. Continuous with the descending colon[BTO,modified]. tmpak2llvmy_mondo_relaxed.owl colon transversum owl:Class MONDO:0013062 biolink:NamedThing long QT syndrome 12 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 12|LQT12|SNTA1 long QT syndrome|long QT syndrome caused by mutation in SNTA1|long QT syndrome 12 MESH:C567842|ICD10:I45.8|OMIM:612955|UMLS:C2751830|DOID:0110653 owl:Class HGNC:11167 biolink:NamedThing SNTA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011875 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 11 Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, type 11|EIG11|epilepsy, juvenile myoclonic, susceptibility to, 8|CLCN2 generalised epilepsy|generalised epilepsy caused by mutation in CLCN2|epilepsy, idiopathic generalized, susceptibility to, 11|epilepsy, juvenile absence, susceptibility to, 2|susceptibility to idiopathic generalized epilepsy 11 OMIM:607628|DOID:0111312 owl:Class HGNC:2020 biolink:NamedThing CLCN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024622 biolink:NamedThing thyroid gland adenocarcinoma An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). tmpak2llvmy_mondo_relaxed.owl thyroid adenocarcinoma|thyroid gland adenocarcinoma NCIT:C27380|DOID:0080524 owl:Class OBO:CHR_9606-chr11q2 biolink:NamedThing chr11q2 (Human) tmpak2llvmy_mondo_relaxed.owl 135086622 93000000 hg38 owl:Class OBO:CHR_9606-chr11q biolink:NamedThing chr11q (Human) tmpak2llvmy_mondo_relaxed.owl 135086622 53400000 hg38 owl:Class UBERON:0009577 biolink:NamedThing metencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future metencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010092 biolink:NamedThing future metencephalon A developing anatomical structure that has the potential to develop into a metencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001073 biolink:NamedThing ileocecal junction A point along the course of the gastrointestinal tract where the small intestine (ileum) ends as it opens into the cecal portion of the large intestine; occurs usually within the iliac fossa, demarcated internally as the ileocecal orifice tmpak2llvmy_mondo_relaxed.owl ileocaecal junction owl:Class MONDO:0014048 biolink:NamedThing Cowden syndrome 6 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. tmpak2llvmy_mondo_relaxed.owl Cowden disease caused by mutation in AKT1|Cowden syndrome 6|AKT1 Cowden disease|CWS6|Cowden syndrome type 6 UMLS:C3554519|OMIM:615109 owl:Class HGNC:391 biolink:NamedThing AKT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:2001950 biolink:NamedThing inter-premaxillary joint Joint that articulates the left and right premaxillary bones. Inter-premaxillary joint is unpaired. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002244 biolink:NamedThing premaxilla One of the bones of the upper jaw situated between and in front of the maxillae[VHOG]. tmpak2llvmy_mondo_relaxed.owl premaxillary|premaxillae|premaxillary bone|premaxilla bone|os incisivum|incisive bone owl:Class MONDO:0014085 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 2 Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene. tmpak2llvmy_mondo_relaxed.owl congenital hydrocephalus caused by mutation in MPDZ|HYC2|hydrocephalus, nonsyndromic, autosomal recessive 2|hydrocephalus, nonsyndromic, autosomal recessive type 2|MPDZ congenital hydrocephalus OMIM:615219|UMLS:C3554691 owl:Class HGNC:7208 biolink:NamedThing MPDZ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014701 biolink:NamedThing spondyloepiphyseal dysplasia, Stanescu type tmpak2llvmy_mondo_relaxed.owl SED, Stanescu type|spondyloepiphyseal dysplasia, Stanescu type|SEDSTN ICD10:Q77.7|UMLS:C4225273|OMIM:616583|Orphanet:459051 owl:Class HGNC:2200 biolink:NamedThing COL2A1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008228 biolink:NamedThing opsonization The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023601 biolink:NamedThing non-classic congenital adrenal hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. tmpak2llvmy_mondo_relaxed.owl late-onset congenital adrenal hyperplasia|LOCAH|NCCAH|non-classic congenital adrenal hyperplasia|non classic congenital adrenal hyperplasia|attenuated congenital adrenal hyperplasia UMLS:C0342467|NCIT:C131442|MESH:C537877 owl:Class HP:0012825 biolink:NamedThing Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. tmpak2llvmy_mondo_relaxed.owl Mild SNOMEDCT_US:446411000124101|UMLS:C1513302 PATO:0000394, mild. peter 2014-06-06T06:41:33Z human_phenotype owl:Class CL:0002681 biolink:NamedThing kidney cortical cell tmpak2llvmy_mondo_relaxed.owl terryh 2011-10-25T03:49:41Z cell owl:Class GO:0022848 biolink:NamedThing acetylcholine-gated cation-selective channel activity Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. tmpak2llvmy_mondo_relaxed.owl acetylcholine-gated cation channel activity|ionotropic acetylcholine receptor activity|nicotinergic acetylcholine receptor activity|nAChR|acetylcholine-activated cation-selective channel activity|nicotinic acetylcholine-activated cation-selective channel activity owl:Class ENVO:01001687 biolink:NamedThing mass of solid material An object which is composed primarily of a solid environmental material tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000814 biolink:NamedThing solid environmental material An environmental material which is in a solid state. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012220 biolink:NamedThing Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. tmpak2llvmy_mondo_relaxed.owl Griscelli-PruniC)ras syndrome type 3|Griscelli syndrome type 3|Griscelli disease type 3|Griscelli syndrome, type 3|hypomelanosis with no immunologic or neurologic manifestations|GS3|Griscelli-Pruniéras syndrome type 3|Griscelli-Pruni��ras syndrome type 3 UMLS:C1836573|MESH:C537303|Orphanet:79478|DOID:0060834|ICD10:E70.3|GARD:0009715|OMIM:609227 https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 owl:Class HGNC:29643 biolink:NamedThing MLPH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010393 biolink:NamedThing intellectual disability, X-linked 93 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, with macrocephaly|BRWD3 non-syndromic X-linked intellectual disability|MRX93|intellectual disability, X-linked 93|mental retardation, X-linked type 93|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|mental retardation, X-linked, with macrocephaly|intellectual disability, X-linked type 93|mental retardation, X-linked 93 OMIM:300659|MESH:C567066|UMLS:C1970841 owl:Class HGNC:17342 biolink:NamedThing BRWD3 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002721 biolink:NamedThing Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. tmpak2llvmy_mondo_relaxed.owl Decreased immune function|Immune deficiency SNOMEDCT_US:234532001|MSH:D007153|UMLS:C0021051 HP:0005362|HP:0005371 human_phenotype owl:Class MONDO:0020178 biolink:NamedThing palpebral lentiginosis A lentigo that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl skin of eyelid lentigo Orphanet:98587 owl:Class UBERON:0001457 biolink:NamedThing skin of eyelid A zone of skin that is part of a eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of eyelid|eyelid zone of skin|blepharon zone of skin|eyelid skin|zone of skin of blepharon owl:Class ENVO:09000015 biolink:NamedThing amount of nitrogen atom in water The amount of a nitrogen atom when measured in water. tmpak2llvmy_mondo_relaxed.owl water nitrogen atom amount owl:Class Neebbe8d9b99b454482c56ca2aecc3dc0 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0035931 biolink:NamedThing mineralocorticoid secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007249 biolink:NamedThing I-kappaB kinase/NF-kappaB signaling The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. tmpak2llvmy_mondo_relaxed.owl canonical NF-kappaB signaling cascade|I-kappaB kinase/NF-kappaB cascade|activation of the inhibitor of kappa kinase|p50-dependent NF-kappaB signaling|NF-kappaB cascade|I-kappaB kinase/NF-kappaB signal transduction owl:Class GO:0051092 biolink:NamedThing positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. tmpak2llvmy_mondo_relaxed.owl NF-kappaB activation|activation of NF-kappaB|activation of NF-kappaB transcription factor owl:Class UBERON:0036074 biolink:NamedThing vein of vestibular aqueduct A vein that leaves the vestibule through an individual bone canal running parallel to the vestibular aqueduct up to the dura of the posterior side of the petrosa in the area of the endolymphatic sac. It then opens in the inferior petrosal sinus or the jugular bulb. The vein receives other branches from the bone, dura and sac. tmpak2llvmy_mondo_relaxed.owl vestibular aqueduct vein|vena aqueductus vestibuli owl:Class GO:0000819 biolink:NamedThing sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008342 biolink:NamedThing intestinal villus of duodenum An intestinal villus in the duodenum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013622 biolink:NamedThing platelet-type bleeding disorder 9 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. tmpak2llvmy_mondo_relaxed.owl GP Ia deficiency|ITGA2 inherited bleeding disorder, platelet-type|BDPLT9|collagen platelet receptor deficiency|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|bleeding diathesis due to integrin alpha2-beta1 deficiency|glycoprotein Ia deficiency|bleeding disorder, platelet-type, 9 MESH:C566000|OMIM:614200|Orphanet:98886|DOID:0111045|ICD10:D69.8 owl:Class HGNC:6137 biolink:NamedThing ITGA2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098960 biolink:NamedThing postsynaptic neurotransmitter receptor activity Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission. tmpak2llvmy_mondo_relaxed.owl neurotransmitter receptor activity involved in chemical synaptic transmission owl:Class GO:0045211 biolink:NamedThing postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. tmpak2llvmy_mondo_relaxed.owl post-synaptic membrane owl:Class UBERON:8300000 biolink:NamedThing skin of scalp A zone of skin that is part of a scalp. tmpak2llvmy_mondo_relaxed.owl adult scalp zone of skin|zone of skin of adult scalp|scalp zone of skin|scalp skin|zone of skin of scalp owl:Class MONDO:0013445 biolink:NamedThing complement component 9 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. tmpak2llvmy_mondo_relaxed.owl C9 classic complement early component deficiency|classic complement early component deficiency caused by mutation in C9|C9 deficiency|complement component 9 deficiency|C9D MESH:C565165|OMIM:613825|DOID:0060303|UMLS:C3151189|ICD10:D84.1 owl:Class UBERON:0004275 biolink:NamedThing third ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a third ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl third ventricle epithelium of choroid plexus|third ventricle chorioid plexus of cerebral hemisphere epithelium|third ventricle epithelium of chorioid plexus of cerebral hemisphere|third ventricle epithelial tissue of choroid plexus|epithelium of choroid plexus of third ventricle|third ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere epithelium of third ventricle|epithelial tissue of choroid plexus of third ventricle|choroid plexus epithelial tissue of third ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of third ventricle|chorioid plexus of cerebral hemisphere epithelial tissue of third ventricle|epithelium of chorioid plexus of cerebral hemisphere of third ventricle|third ventricle choroid plexus epithelial tissue|choroid plexus epithelium of third ventricle|third ventricle chorioid plexus of cerebral hemisphere epithelial tissue owl:Class MONDO:0006491 biolink:NamedThing vulvar lichen sclerosus A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. tmpak2llvmy_mondo_relaxed.owl vulvar lichen sclerosus|mammalian vulva lichen sclerosus et atrophicus|lichen sclerosus et atrophicus of mammalian vulva UMLS:C0022783|MESH:D007724|NCIT:C27723|EFO:1000623 owl:Class HGNC:14674 biolink:NamedThing PCDH15 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2726 biolink:NamedThing DDIT3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001773 biolink:NamedThing sclera Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. tmpak2llvmy_mondo_relaxed.owl scleral capsule owl:Class CL:0002006 biolink:NamedThing Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-13T03:43:12Z cell owl:Class GO:0033001 biolink:NamedThing Fc-gamma receptor III complex A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. tmpak2llvmy_mondo_relaxed.owl immunoglobulin G receptor complex|IgG receptor complex|FcgRIII complex owl:Class UBERON:0012321 biolink:NamedThing deep cervical artery The deep cervical artery (Profunda cervicalis) is an artery of the neck. tmpak2llvmy_mondo_relaxed.owl profunda cervicalis owl:Class UBERON:0004688 biolink:NamedThing costo-cervical trunk The costocervical trunk arises from the upper and back part of the subclavian artery, behind the scalenus anterior on the right side, and medial to that muscle on the left side. Passing backward, it splits into the deep cervical artery and the supreme intercostal artery (or the Highest intercostal artery), which descends behind the pleura in front of the necks of the first and second ribs, and anastomoses with the first aortic intercostal (3rd posterior intercostal artery). As it crosses the neck of the first rib it lies medial to the anterior division of the first thoracic nerve, and lateral to the first thoracic ganglion of the sympathetic trunk. In the first intercostal space, it gives off a branch which is distributed in a manner similar to the distribution of the aortic intercostals. The branch for the second intercostal space usually joins with one from the highest aortic intercostal artery. This branch is not constant, but is more commonly found on the right side; when absent, its place is supplied by an intercostal branch from the aorta. Each intercostal gives off a posterior branch which goes to the posterior vertebral muscles, and sends a small spinal branch through the corresponding intervertebral foramen to the medulla spinalis and its membranes. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl trunk of costocervical artery|truncus costocervicalis|costocervical trunk owl:Class UBERON:0013156 biolink:NamedThing 1st arch mandibular endoderm tmpak2llvmy_mondo_relaxed.owl endoderm of mandibular component owl:Class MONDO:0014547 biolink:NamedThing combined oxidative phosphorylation defect type 24 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. tmpak2llvmy_mondo_relaxed.owl NARS2 combined oxidative phosphorylation deficiency|COXPD24|combined oxidative phosphorylation deficiency type 24|combined oxidative phosphorylation deficiency 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2 DOID:0111485|OMIM:616239|EFO:0009034|Orphanet:444458|ICD10:G71.3|UMLS:C4015643 owl:Class HGNC:26274 biolink:NamedThing NARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003826 biolink:NamedThing mediastinum seminoma An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. tmpak2llvmy_mondo_relaxed.owl seminoma of the mediastinum|mediastinal seminoma|seminoma of mediastinum|mediastinum seminoma UMLS:C1334680|DOID:6249|NCIT:C6812 owl:Class GO:0014051 biolink:NamedThing gamma-aminobutyric acid secretion The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues. tmpak2llvmy_mondo_relaxed.owl GABA secretion owl:Class MONDO:0021962 biolink:NamedThing baetz-greenwalt syndrome tmpak2llvmy_mondo_relaxed.owl hypoplastic right-sided heart complex UMLS:C2931615|GARD:0009216|MESH:C537795 https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome owl:Class OBO:CHR_9606-chr17q11 biolink:NamedThing chr17q11 (Human) tmpak2llvmy_mondo_relaxed.owl 33500000 25100000 hg38 owl:Class OBO:CHR_9606-chr17q1 biolink:NamedThing chr17q1 (Human) tmpak2llvmy_mondo_relaxed.owl 39800000 25100000 hg38 owl:Class HGNC:16905 biolink:NamedThing KLHL41 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005331 biolink:NamedThing mesonephric renal vesicle The renal vesicle is the primordial structure of the mesonephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. tmpak2llvmy_mondo_relaxed.owl mesonephric vesicle owl:Class UBERON:0005330 biolink:NamedThing mesonephric nephron epithelium The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013542 biolink:NamedThing Moyamoya disease 5 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. tmpak2llvmy_mondo_relaxed.owl Moyamoya disease caused by mutation in ACTA2|ACTA2 Moyamoya disease|Moyamoya disease type 5|Moyamoya disease 5|MYMY5 UMLS:C3279690|OMIM:614042 owl:Class OBO:CHR_9606-chr11p15.4 biolink:NamedThing chr11p15.4 (Human) tmpak2llvmy_mondo_relaxed.owl 11700000 2800000 hg38 owl:Class MONDO:0013616 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 3 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. tmpak2llvmy_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary, 3|Cushing syndrome, adrenal, due to PPNAD3|PPNAD3|PDE8B primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|pigmented nodular adrenocortical disease, primary, type 3 OMIM:614190|UMLS:C3280094 owl:Class HGNC:8794 biolink:NamedThing PDE8B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005129 biolink:NamedThing metanephric distal tubule The metanephric distal tubule is a metanephric nephron tubule that begins at the metanephric macula densa and extends to the metanephric connecting tubule[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001951 biolink:NamedThing epithelium of nasopharynx An epithelium that is part of a nasopharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of rhinopharynx|epithelium of rhinopharynx|epithelium of nasal part of pharynx|epithelial tissue of nasal part of pharynx|nasal part of pharynx epithelial tissue|rhinopharynx epithelial tissue|nasopharynx epithelium|nasal part of pharynx epithelium|epithelial tissue of nasopharynx|rhinopharynx epithelium|nasopharyngeal epithelium|nasopharynx epithelial tissue owl:Class MONDO:0008289 biolink:NamedThing brain small vessel disease 1 with or without ocular anomalies Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. tmpak2llvmy_mondo_relaxed.owl POREN1|porencephaly, type 1, autosomal dominant|hemiplegia, infantile, with porencephaly porencephaly, type 1|porencephaly caused by mutation in COL4A1|brain small vessel disease with Axenfeld-Riegar anomaly|porencephaly type 1|COL4A1-related familial vascular leukoencephalopathy|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with or without ocular anomalies|infantile hemiparesis|COL4A1 porencephaly|brain small vessel disease with axenfeld-rieger anomaly|ADT1P|hemiplegia, infantile, with porencephaly|porencephaly 1|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|brain small vessel disease with hemorrhage|BSVD|COL4A1-related brain small vessel disease with hemorrhage|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|BSVD1|T1P MESH:C531642|UMLS:CN032791|OMIM:175780|OMIM:607595|DOID:0090125|Orphanet:36383|MESH:C564372|ICD10:I67.3 owl:Class HGNC:2202 biolink:NamedThing COL4A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014729 biolink:NamedThing hereditary spastic paraplegia 75 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. tmpak2llvmy_mondo_relaxed.owl SPG75|MAG hereditary spastic paraplegia|hereditary spastic paraplegia type 75|hereditary spastic paraplegia caused by mutation in MAG|autosomal recessive spastic paraplegia 75|spastic paraplegia 75, autosomal recessive|autosomal recessive spastic paraplegia type 75 ICD10:G11.4|UMLS:C4225250|OMIM:616680|DOID:0110820|Orphanet:459056|EFO:0009018 owl:Class HGNC:6783 biolink:NamedThing MAG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008471 biolink:NamedThing spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia congenita|SED congenita|late spondyloepiphyseal dysplasia|congenital spondyloepiphyseal dysplasia|Spranger-Wiedemann disease|spondyloepiphyseal dysplasia, congenital type|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|SEDC MedDRA:10062920|DOID:14789|MESH:C535788|GARD:0004987|SCTID:278713008|OMIM:183900|Orphanet:94068|ICD10:Q77.7|ICD9:756.9 https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita owl:Class UBERON:0001422 biolink:NamedThing facial lymphatic vessel A lymphatic vessel that is part of a face [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl face lymphatic vessel|FL|lymph vessel of face|buccal lymphatic vessel|face lymph vessel|lymphatic vessel of face owl:Class MONDO:0014000 biolink:NamedThing congenital heart defects, multiple types, 2 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. tmpak2llvmy_mondo_relaxed.owl congenital heart defects, multiple types, 2|congenital heart malformation caused by mutation in TAB2|CHTD2|TAB2 congenital heart malformation UMLS:C3554279|OMIM:614980 owl:Class HGNC:17075 biolink:NamedThing TAB2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004896 biolink:NamedThing cytokine receptor activity Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl IL receptor|hematopoietin/interferon-class (D200-domain) cytokine receptor activity|interleukin receptor activity owl:Class GO:0019955 biolink:NamedThing cytokine binding Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. tmpak2llvmy_mondo_relaxed.owl IL binding|interleukin binding owl:Class UBERON:0006815 biolink:NamedThing areolar connective tissue Loose connective tissue located at the outer and inner layers of organs. Examples: submucosal connective tissue, tunica adventitia of artery, papillary dermis, superficial fascia of dorsum of hand. tmpak2llvmy_mondo_relaxed.owl areolar tissue|loose areolar connective tissue|loose connective tissue owl:Class MONDO:0009607 biolink:NamedThing methionine adenosyltransferase deficiency Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. tmpak2llvmy_mondo_relaxed.owl hypermethioninemia, isolated persistent|Mat I/III deficiency|methionine adenosyltransferase deficiency|brain demyelination due to methionine adenosyltransferase deficiency|MAT deficiency|isolated persistent hypermethioninemia|MAT I/III deficiency|methionine adenosyltransferase I/III deficiency GARD:0008397|OMIM:250850|Orphanet:168598|ICD10:E72.1|NCIT:C123435 owl:Class HGNC:6903 biolink:NamedThing MAT1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022655 biolink:NamedThing cardiomyopathy hypogonadism metabolic anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0001109 https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies owl:Class MONDO:0007452 biolink:NamedThing maturity-onset diabetes of the young type 1 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. tmpak2llvmy_mondo_relaxed.owl HNF4A-associated monogenic diabetes|mild juvenile diabetes mellitus|MODY1|maturity-onset diabetes of the young, type 1|MODY type 1|maturity onset diabetes of the Young, type 1|MODY, type 1|diabetes mellitus MODY type 1|diabetes mellitus type 2|type 1 maturity-onset diabetes of the young|MODY HNF4A related|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes NCIT:C129744|SCTID:609562003|UMLS:C1852093|DOID:0111099|GARD:0003418|OMIM:125850|MESH:C565101 https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1 owl:Class HGNC:5024 biolink:NamedThing HNF4A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012303 biolink:NamedThing ureteral orifice The slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux tmpak2llvmy_mondo_relaxed.owl ureteric ostium|orifice of ureter|ureteral meatus|Mercier's bar|ureteric orifice|ostium ureteris|orificium ureteris|ureteral opening|ureterovesical orifice owl:Class UBERON:0006082 biolink:NamedThing fundus of urinary bladder The base or posterior surface of the urinary bladder contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice. tmpak2llvmy_mondo_relaxed.owl bladder dome|fundus of bladder|base of urinary bladder|urinary bladder fundus region|fundus vesicae|urinary bladder fundus|urinary bladder base owl:Class UBERON:0001479 biolink:NamedThing sesamoid bone A sesamoid element that is composed of bone tissue. tmpak2llvmy_mondo_relaxed.owl sesamoid|ossa sesamoidea owl:Class GO:0042747 biolink:NamedThing circadian sleep/wake cycle, REM sleep A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009639 biolink:NamedThing body of sphenoid The body of the sphenoid bone, more or less cubical in shape, is hollowed out in its interior to form two large cavities, the sphenoidal air sinuses, which are separated from each other by a septum. tmpak2llvmy_mondo_relaxed.owl corpus (os sphenoidale)|sphenoid body|central body of sphenoid|Entire body of sphenoid bone|corpus ossis sphenoidalis|body of sphenoidal bone owl:Class UBERON:0002241 biolink:NamedThing chondrocranium Endoskeletal elements that encase the brain, nose, inner ear[cjm]. that part of the neurocranium formed by endochondral ossification and comprising the bones of the base of the skull[TFD]. tmpak2llvmy_mondo_relaxed.owl calvarium|neurocranium owl:Class MONDO:0005136 biolink:NamedThing malaria Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. tmpak2llvmy_mondo_relaxed.owl plasmodiosis ICD10:B50.9|MedDRA:10025487|Orphanet:673|ICD9:084.6|ICD10:B54|ICD10:B52.9|EFO:0001068|ICD10:B52.8|UMLS:C0024530|ICD10:B51.0|ICD10:B52.0|ICD10:B51.8|ICD10:B50.0|ICD9:084|ICD10:B53.8|GARD:0006961|ICD10:B50.8|ICD10:B53.0|MESH:D008288|ICD10:B53.1|SCTID:61462000|DOID:12365|NCIT:C34797|ICD10:B53|ICD10:B51.9 https://rarediseases.info.nih.gov/diseases/6961/malaria owl:Class MONDO:0019095 biolink:NamedThing plague Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. tmpak2llvmy_mondo_relaxed.owl pest|pestilential fever|infection by Yersinia pestis|black death|Yersiniosis|plague MESH:D010930|DOID:3482|ICD10:A20.0|SCTID:58750007|ICD10:A20.8|ICD10:A20.7|ICD9:020|ICD10:A20.2|NCIT:C85015|ICD10:A20.9|MedDRA:10035148|ICD9:020.9|UMLS:C0032064|MedDRA:10061416|ICD10:A20.1|Orphanet:707|ICD10:A20.3|ICD9:136.8|ICD10:A20 owl:Class NCBITaxon:632 biolink:NamedThing Yersinia pestis tmpak2llvmy_mondo_relaxed.owl Pasteurella pestis|Yersinia pseudotuberculosis subsp. pestis|Bacillus pestis|Pestisella pestis|Bacterium pestis GC_ID:11|PMID:15084509 ncbi_taxonomy owl:Class CL:0000828 biolink:NamedThing thromboblast A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates. tmpak2llvmy_mondo_relaxed.owl Note that this is a non-mammalian cell type. cell owl:Class CL:1000283 biolink:NamedThing smooth muscle fiber of transverse colon A smooth muscle cell that is part of the transverse colon. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of transverse colon FMA:17519 cell owl:Class UBERON:0011582 biolink:NamedThing paired limb/fin skeleton The collection of all skeletal elements in an individual limb or fin. tmpak2llvmy_mondo_relaxed.owl limb/fin skeleton|skeletal parts of limb/fin|skeleton of limb/fin owl:Class GO:0030808 biolink:NamedThing regulation of nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpak2llvmy_mondo_relaxed.owl regulation of nucleotide anabolism|regulation of nucleotide synthesis|regulation of nucleotide biosynthesis|regulation of nucleotide formation owl:Class GO:0009165 biolink:NamedThing nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpak2llvmy_mondo_relaxed.owl nucleotide anabolism|nucleotide formation|nucleotide biosynthesis|nucleotide synthesis owl:Class MONDO:0019351 biolink:NamedThing isolated spina bifida A spina bifida (disease) that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl cleft spine|open spine|isolated spina bifida (disease)|nonsyndromic spina bifida (disease) GARD:0007673|Orphanet:823|ICD10:Q05.1|ICD10:Q05.4|ICD10:Q05.2|ICD10:Q05.0|MedDRA:10041524|ICD10:Q05.9|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.3|ICD10:Q05.7|ICD10:Q05.8 owl:Class GO:2000385 biolink:NamedThing positive regulation of ectoderm development Any process that activates or increases the frequency, rate or extent of ectoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007398 biolink:NamedThing ectoderm development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002087 biolink:NamedThing nongranular leukocyte A leukocyte that lacks granules. tmpak2llvmy_mondo_relaxed.owl agranular leukocyte FMA:62855 tmeehan 2010-07-22T11:30:33Z cell owl:Class UBERON:0012498 biolink:NamedThing serosa of appendix A serous membrane that is part of a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl visceral peritoneum of vermiform appendix|appendiceal serosa|serosa of vermiform appendix|appendix serosa owl:Class UBERON:0001997 biolink:NamedThing olfactory epithelium A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP]. tmpak2llvmy_mondo_relaxed.owl main olfactory epithelium|MOE|pseudostratified main olfactory epithelium|nasal sensory epithelium|nasal cavity olfactory epithelium|olfactory membrane|nasal epithelium|sensory olfactory epithelium|olfactory sensory epithelium owl:Class CL:0000207 biolink:NamedThing olfactory receptor cell tmpak2llvmy_mondo_relaxed.owl olfactory receptor neuron|olfactory sensory neuron|Schultze's cell|odorant receptor cell BTO:0004185|Wikipedia:Olfactory_receptor_neuron|FMA:67860 cell owl:Class GO:0055026 biolink:NamedThing negative regulation of cardiac muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. tmpak2llvmy_mondo_relaxed.owl inhibition of cardiac muscle development|down regulation of cardiac muscle development|downregulation of cardiac muscle development|negative regulation of heart muscle development|down-regulation of cardiac muscle development owl:Class GO:0048738 biolink:NamedThing cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl heart muscle development owl:Class MONDO:0012125 biolink:NamedThing hypomyelinating leukodystrophy 2 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. tmpak2llvmy_mondo_relaxed.owl Pelizaeus-Merzbacher-like disease, 1|hypomyelinating leukodystrophy type 2|Pelizaeus-Merzbacher-like disease 1|leukodystrophy, hypomyelinating, type 2|leukodystrophy, hypomyelinating, 2|Pelizaeus-Merzbacher-like disease due to GJC2 mutation|GJC2 leukodystrophy|PMLD1|HLD2|leukodystrophy caused by mutation in GJC2 MESH:C563855|OMIM:608804|UMLS:C1837355|Orphanet:280282|DOID:0060787|ICD10:E75.2 owl:Class MONDO:0011512 biolink:NamedThing Brooke-Spiegler syndrome Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. tmpak2llvmy_mondo_relaxed.owl Spiegler-Brooke syndrome|Bss|CYLD cutaneous syndrome|BRSS|Brooke-Spiegler syndrome ICD9:239.2|OMIM:605041|Orphanet:79493|GARD:0010179|DOID:0050693|SCTID:703531009|UMLS:C1857941 Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 owl:Class HGNC:2584 biolink:NamedThing CYLD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008094 biolink:NamedThing familial multiple nevi flammei A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. tmpak2llvmy_mondo_relaxed.owl port wine stain|Nevus flammeus|port-wine stain familial multiple|port-wine stain|nevi flammei, familial multiple|port wine birthmark|port wine stain of the skin|familial multiple port-wine stains|capillary malformations|port wine type hemangioma|port-wine stain of skin|port wine stain of skin|CMC|capillary malformations, congenital|Salmon patch Nevus|port wine Nevus NCIT:C3840|DOID:0111529|GARD:0003986|SCTID:416377005|UMLS:C0235752|ICD10:Q82.5|Orphanet:624|MedDRA:10067193|OMIM:163000|UMLS:CN205384 owl:Class UBERON:0001247 biolink:NamedThing falciform ligament A ligament that attaches the liver to the anterior body wall. It is a broad and thin antero-posterior peritoneal fold, falciform in shape, its base being directed downward and backward and its apex upward and backward. It is a remnant of the ventral mesentery of the fetus. It is situated in an antero-posterior plane but lies obliquely, so that one surface faces forward and is in contact with the peritoneum behind the right rectus and the diaphragm, while the other is directed backward and is in contact with the left lobe of the liver. It is attached by its left margin to the under surface of the diaphragm and the posterior surface of the sheath of the right Rectus as low down as the umbilicus; by its right margin it extends from the notch on the anterior margin of the liver, as far back as the posterior surface. It is composed of two layers of peritoneum closely united together. Its base or free edge contains between its layers the round ligament and the paraumbilical veins[WP]. tmpak2llvmy_mondo_relaxed.owl ligamentum falciforme (hepatis)|ligamentum falciforme hepatis|falciform ligament of liver owl:Class MONDO:0010516 biolink:NamedThing midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis tmpak2llvmy_mondo_relaxed.owl midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|MFHIEN UMLS:C4310810|OMIM:300990 owl:Class HGNC:467 biolink:NamedThing AMMECR1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012282 biolink:NamedThing mammary fat pad encapsulated adipose tissue associated with the mammary gland tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060048 biolink:NamedThing cardiac muscle contraction Muscle contraction of cardiac muscle tissue. tmpak2llvmy_mondo_relaxed.owl heart muscle contraction owl:Class GO:0060047 biolink:NamedThing heart contraction The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpak2llvmy_mondo_relaxed.owl heart beating|hemolymph circulation|cardiac contraction owl:Class UBERON:0013689 biolink:NamedThing appendix lymphoid tissue Lymphoid tissue located in the appendix. tmpak2llvmy_mondo_relaxed.owl lymphatic tissue of vermiform appendix|lymphatic tissue of appendix|appendix lymphoid owl:Class HGNC:17213 biolink:NamedThing COLEC11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020510 biolink:NamedThing idiopathic syringomyelia Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. tmpak2llvmy_mondo_relaxed.owl ICD10:G95.0|UMLS:C4511700|SCTID:725001004|Orphanet:99858 owl:Class MONDO:0002742 biolink:NamedThing cervical mucinous adenocarcinoma A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. tmpak2llvmy_mondo_relaxed.owl cervical mucinous adenocarcinoma|uterine cervix mucinous adenocarcinoma NCIT:C36095|UMLS:C1332919|DOID:3701 owl:Class MONDO:0014242 biolink:NamedThing van Maldergem syndrome 2 Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpak2llvmy_mondo_relaxed.owl van Maldergem syndrome 2|Van Maldergem syndrome type 2|van Maldergem syndrome caused by mutation in FAT4|VMLDS2|VAN Maldergem syndrome 2|FAT4 van Maldergem syndrome OMIM:615546|UMLS:C3809875|DOID:0080586 owl:Class HGNC:23109 biolink:NamedThing FAT4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013184 biolink:NamedThing congenital diarrhea 5 with tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. tmpak2llvmy_mondo_relaxed.owl congenital tufting enteropathy|tufting enteropathy|EPCAM secretory diarrhea|congenital familial intractable diarrhea with enterocytes assembly abnormalities|DIAR5|congenital diarrhea 5 with tufting enteropathy|IED|intestinal epithelial cell dysplasia|diarrhea 5, with tufting enteropathy, congenital|enteropathy, congenital tufting|intestinal epithelial dysplasia|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|secretory diarrhea caused by mutation in EPCAM|congenital enteropathy UMLS:C2750737|GARD:0010630|DOID:0060776|ICD10:P78.3|OMIM:613217|SCTID:715669000|Orphanet:92050|MESH:C567703|UMLS:C4275062 owl:Class HGNC:11529 biolink:NamedThing EPCAM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013875 biolink:NamedThing 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. tmpak2llvmy_mondo_relaxed.owl 3-MGCA-4 (formerly)|3-MGCA type IV (formerly)|MEGDEL syndrome|SERAC1 3-methylglutaconic aciduria|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-Methylglutaconic aciduria, type 6|3-methylglutaconic aciduria type VI|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|3-methylglutaconic aciduria type 6|MGCA6|SERAC1 defect|MEGDEL ICD10:E71.1|DOID:0110001|OMIM:614739|Orphanet:352328|UMLS:C3553597|SCTID:711409002|GARD:0012963 Present because it is in the OMIM series. owl:Class MONDO:0003913 biolink:NamedThing choroid mixed cell melanoma A mixed cell uveal melanoma that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl mixed cell uveal melanoma of optic choroid|choroid mixed cell melanoma|optic choroid mixed cell uveal melanoma NCIT:C35782|UMLS:C1333025|DOID:6525 owl:Class CL:1001608 biolink:NamedThing foreskin fibroblast Fibroblast from foreskin. tmpak2llvmy_mondo_relaxed.owl BJ fibroblast CALOHA:TS-0384 owl:Class MONDO:0018591 biolink:NamedThing ITM2B amyloidosis tmpak2llvmy_mondo_relaxed.owl ITM2B-related cerebral amyloid angiopathy|ITM2B-related amyloidosis|familial cerebral amyloid angiopathy ICD10:I68.0*|UMLS:CN237622|ICD10:E85.4+|SCTID:45639009|Orphanet:439254|ICD9:277.39 owl:Class MONDO:0019904 biolink:NamedThing ring chromosome 3 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. tmpak2llvmy_mondo_relaxed.owl R3|Ring 3|Ring chromosome type 3|Ring chromosome 3 syndrome|rose cluster 3|chromosome 3 ring Orphanet:96172|SCTID:765486004|UMLS:C4050314|ICD10:Q93.2|GARD:0010839|NCIT:C121982 https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 owl:Class MONDO:0013381 biolink:NamedThing neuropathy, hereditary sensory, type 1D A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. tmpak2llvmy_mondo_relaxed.owl hereditary sensory neuropathy type ID|HSN1D|hereditary sensory neuropathy type 1D|neuropathy, hereditary sensory, type ID OMIM:613708|UMLS:C3150972|DOID:0070156 owl:Class MONDO:0020712 biolink:NamedThing 46,XY sex reversal 1 tmpak2llvmy_mondo_relaxed.owl 46,XY sex reversal type 1|46,XY gonadal dysgenesis, complete, SRY-related|46,XY true hermaphroditism, SRY-related|46,XY sex reversal, SRY-related|SRXY1|46,XY sex reversal 1 DOID:0111778|OMIM:400044 owl:Class HGNC:11311 biolink:NamedThing SRY tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000321 biolink:NamedThing sea water environment An environmental system determined by seawater. tmpak2llvmy_mondo_relaxed.owl ocean water environment owl:Class ENVO:00002149 biolink:NamedThing sea water Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean. tmpak2llvmy_mondo_relaxed.owl ocean water|seawater owl:Class MONDO:0013972 biolink:NamedThing Perrault syndrome 2 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. tmpak2llvmy_mondo_relaxed.owl Perrault syndrome type 2|PRLTS2|HARS2 Perrault syndrome|Perrault syndrome caused by mutation in HARS2|Perrault syndrome 2 OMIM:614926|UMLS:C3554105 owl:Class HGNC:4817 biolink:NamedThing HARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000310 biolink:NamedThing Alkhurma hemorrhagic fever A disease caused by infection with Alkhumra hemorrhagic fever virus. tmpak2llvmy_mondo_relaxed.owl Alkhumra hemorrhagic fever virus disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus caused disease or disorder DOID:0050308 owl:Class NCBITaxon:172148 biolink:NamedThing Alkhumra hemorrhagic fever virus tmpak2llvmy_mondo_relaxed.owl AHFV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010379 biolink:NamedThing Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. tmpak2llvmy_mondo_relaxed.owl antisocial behavior, susceptibility to|Brunner syndrome|monoamine oxidase A deficiency|BRNRS UMLS:C0796275|Orphanet:3057|DOID:0060693|GARD:0003531|OMIM:300615|ICD10:E70.8|SCTID:718210003|MESH:C563156 owl:Class HGNC:6833 biolink:NamedThing MAOA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001423 biolink:NamedThing radius bone The major preaxial endochondral bone in the anterior zeugopod[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl radius owl:Class GO:0099571 biolink:NamedThing postsynaptic cytoskeleton The portion of the cytoskeleton contained within the postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098794 biolink:NamedThing postsynapse The part of a synapse that is part of the post-synaptic cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018984 biolink:NamedThing Oroya fever An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. tmpak2llvmy_mondo_relaxed.owl Carrion's disease|Carrion disease|Bartonella bacilliformis infectious disease|bartonellosis due to Bartonella bacilliformis infection|Carrión disease|Oroya fever|Bartonella bacilliformis caused disease or disorder|Bartonella bacilliformis disease or disorder ICD10:A44.0|UMLS:CN205422|SCTID:240453002|DOID:0050398|NCIT:C128441|Orphanet:64692|SCTID:262461007|UMLS:C0029307 owl:Class MONDO:0012611 biolink:NamedThing polyhydramnios, megalencephaly, and symptomatic epilepsy tmpak2llvmy_mondo_relaxed.owl polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE syndrome|pretzel syndrome|PMSE|polyhydramnios-megalencephaly-symptomatic epilepsy syndrome OMIM:611087|UMLS:C1970203|GARD:0012913|MESH:C567020|Orphanet:500533 owl:Class HGNC:30172 biolink:NamedThing STRADA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005228 biolink:NamedThing upper arm epithelium An epithelium that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021313 biolink:NamedThing eyelid cancer A cancer that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the eyelid|malignant eyelid neoplasm|malignant eyelid tumor|malignant tumor of the eyelid|eyelid cancer|cancer of eyelid|malignant neoplasm of eyelid|malignant tumor of eyelid ICD9:173.1|NCIT:C6786|SCTID:231829006 owl:Class UBERON:0001866 biolink:NamedThing sebum Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000926 biolink:NamedThing Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. tmpak2llvmy_mondo_relaxed.owl Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies UMLS:C1844704 HP:0004623|HP:0004627|HP:0002940|HP:0004595|HP:0005644|HP:0008466|HP:0003421|HP:0005123 human_phenotype owl:Class UBERON:0005111 biolink:NamedThing metanephric pyramid Metanephric pyramids are the conical masses that constitute the renal medulla in a metanephros; they contain the loops of Henle and the medullary collecting ducts[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008964 biolink:NamedThing congenital secretory chloride diarrhea 1 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. tmpak2llvmy_mondo_relaxed.owl Chloridorrhea, congenital|chloride diarrhea, congenital, Finnish type|congenital chloride diarrhea Finnish type|DIAR1|SLC26A3 secretory diarrhea|CLD|congenital chloride diarrhea|secretory diarrhea caused by mutation in SLC26A3|congenital chloridorrhea|congenital secretory chloride diarrhea type 1|Darrow-gamble disease|familial chloride diarrhea|diarrhea 1, secretory chloride, congenital DOID:0060296|SCTID:24412005|OMIM:214700|ICD10:P78.3|ICD9:579.8|Orphanet:53689|MESH:C536210|GARD:0010001 owl:Class HGNC:3018 biolink:NamedThing SLC26A3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034766 biolink:NamedThing negative regulation of ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl negative regulation of ion membrane transport|downregulation of transmembrane ion transport|inhibition of transmembrane ion transport|negative regulation of transmembrane ion transport|down regulation of transmembrane ion transport|down-regulation of transmembrane ion transport owl:Class GO:0034220 biolink:NamedThing ion transmembrane transport A process in which an ion is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl ion membrane transport|transmembrane ion transport|ATP hydrolysis coupled ion transmembrane transport owl:Class GO:0034105 biolink:NamedThing positive regulation of tissue remodeling Any process that activates or increases the frequency, rate, or extent of tissue remodeling. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048771 biolink:NamedThing tissue remodeling The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002739 biolink:NamedThing extrahepatic bile duct mucinous adenocarcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpak2llvmy_mondo_relaxed.owl bile duct mucinous adenocarcinoma|colloid extrahepatic bile duct adenocarcinoma|mucinous carcinoma of the bile duct|colloid carcinoma of bile duct|colloid adenocarcinoma of bile duct|colloid adenocarcinoma of the bile duct|colloid adenocarcinoma of extrahepatic bile duct|colloid bile duct carcinoma|colloid carcinoma of the bile duct|colloidal adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|colloidal extrahepatic bile duct adenocarcinoma|colloidal carcinoma of bile duct|mucinous carcinoma of bile duct|extrahepatic bile duct mucinous adenocarcinoma|colloid bile duct adenocarcinoma|colloidal bile duct adenocarcinoma|mucinous bile duct adenocarcinoma|colloidal bile duct carcinoma|colloidal carcinoma of the bile duct|mucinous adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of bile duct|mucinous adenocarcinoma of the bile duct|mucinous extrahepatic bile duct adenocarcinoma|colloid adenocarcinoma of the extrahepatic bile duct|bile duct colloid carcinoma|colloidal adenocarcinoma of the extrahepatic bile duct|bile duct colloidal carcinoma|colloidal adenocarcinoma of bile duct|colloidal adenocarcinoma of the bile duct DOID:3698|UMLS:C0861856|NCIT:C5846 owl:Class GO:0007606 biolink:NamedThing sensory perception of chemical stimulus The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl chemosensory perception owl:Class UBERON:0005764 biolink:NamedThing acellular membrane A acellular anatomical structure that is the bounding layer of a anatomical structure. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33937 biolink:NamedThing macronutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. tmpak2llvmy_mondo_relaxed.owl macronutrients owl:Class UBERON:0009504 biolink:NamedThing mesenchyme of main bronchus Mesenchyme that is part of a developing main bronchus. tmpak2llvmy_mondo_relaxed.owl primary bronchus mesenchyme|main bronchus associated mesenchyme|principal bronchus mesenchyme owl:Class UBERON:0010056 biolink:NamedThing future tongue A compound organ that has the potential to develop into a tongue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007646 biolink:NamedThing endomeninx The innermost layer of the mesenchymal capsule that surrounds the developing brain, primarily of neural crest origin. The endomeninx forms the leptomeninx. tmpak2llvmy_mondo_relaxed.owl future leptomeninx|future leptomeninges owl:Class HGNC:11272 biolink:NamedThing SPTA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014467 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate D Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease caused by mutation in COX6A1|Charcot-Marie-Tooth disease, recessive intermediate D|CMTRID|Charcot-Marie-Tooth disease recessive intermediate type D|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|COX6A1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive Intermediate type D|RI-CMT type D DOID:0110203|ICD10:G60.0|OMIM:616039|UMLS:C4015029|Orphanet:435998 owl:Class HGNC:2277 biolink:NamedThing COX6A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000981 biolink:NamedThing Histoplasma pericarditis An pericarditis (disease) caused by infection with Histoplasma. tmpak2llvmy_mondo_relaxed.owl histoplasmosis with pericarditis|Histoplasma pericarditis (disease)|acute Histoplasma pericarditis|Histoplasma caused pericarditis (disease)|histoplasmosis pericarditis UMLS:C0153279|SCTID:187059008|ICD9:115.93|DOID:10234 owl:Class UBERON:0002390 biolink:NamedThing hematopoietic system Anatomical system that is involved in the production of hematopoietic cells. tmpak2llvmy_mondo_relaxed.owl organa haemopoietica|Blutbildungssystem|hematolymphoid system|haemopoietic system|haematological system|hemopoietic system|hematological system|haematopoietic system owl:Class HGNC:8803 biolink:NamedThing PDGFRA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002397 biolink:NamedThing maxilla The bone which normally forms the lateral upper jaw in osteichthyans, including tetrapods. tmpak2llvmy_mondo_relaxed.owl maxillary bone|upper jaw bone|maxillae owl:Class MONDO:0016952 biolink:NamedThing partial duplication of the long arm of chromosome 1 tmpak2llvmy_mondo_relaxed.owl 1q duplications|partial trisomy of the long arm of chromosome 1|partial duplication of the long arm of chromosome type 1|partial trisomy of chromosome 1q|partial trisomy 1q|partial duplication of chromosome 1q UMLS:C0795800|Orphanet:262833|GARD:0010831|NCIT:C36521 owl:Class OBO:CHR_9606-chr1q biolink:NamedThing chr1q (Human) tmpak2llvmy_mondo_relaxed.owl 248956422 123400000 hg38 owl:Class UBERON:0004788 biolink:NamedThing kidney pelvis urothelium the epithelial lining of the luminal space of the kidney pelvis tmpak2llvmy_mondo_relaxed.owl pelvic urothelium|kidney pelvis transitional epithelium|uroepithelium of kidney pelvis|kidney pelvis uroepithelium|uroepithelium of renal pelvis|uroepithelium of pelvis of ureter|urothelium of kidney pelvis|transitional epithelium of renal pelvis|pelvis of ureter urothelium|pelvis of ureter uroepithelium|urothelium of pelvis of ureter|renal pelvis transitional epithelium|transitional epithelium of kidney pelvis|urothelium of renal pelvis|renal pelvis uroepithelium|renal pelvis urothelium owl:Class ExO:0000000 biolink:NamedThing exposure stressor tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011024 biolink:NamedThing dermatitis herpetiformis, familial Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone. tmpak2llvmy_mondo_relaxed.owl dermatitis herpetiformis, familial|Duhring Brocq disease|hereditary dermatitis herpetiformis|Brocq-Duhring disease|Duhring's disease|DH OMIM:601230|UMLS:C1832586|MESH:C538218|GARD:0001917 https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis owl:Class CL:2000016 biolink:NamedThing lung microvascular endothelial cell Any lung endothelial cell that is part of a microvascular endothelium. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T16:00:56Z cell owl:Class MONDO:0003731 biolink:NamedThing adult central nervous system teratoma A mature or immature teratoma affecting the central nervous system and occurring in adults. tmpak2llvmy_mondo_relaxed.owl teratoma of the adult central nervous system|Central nervous system teratoma|adult central nervous system teratoma|adult CNS teratoma|teratoma of the adult CNS|teratoma of adult CNS|central nervous system teratoma of adults|teratoma of adult central nervous system DOID:6015|NCIT:C5794|UMLS:C1370506 owl:Class UBERON:0002802 biolink:NamedThing left parietal lobe Parietal lobe of the left hemisphere of the brain tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002812 biolink:NamedThing left cerebral hemisphere A cerebral hemisphere that is in the left side of a brain. tmpak2llvmy_mondo_relaxed.owl left hemisphere owl:Class MONDO:0043003 biolink:NamedThing familial acanthosis nigricans An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl acanthosis nigricans|hereditary acanthosis nigricans (disease) OMIM:100600|UMLS:C2930792|MESH:C531598 owl:Class GO:0019203 biolink:NamedThing carbohydrate phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012694 biolink:NamedThing Joubert syndrome 7 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. tmpak2llvmy_mondo_relaxed.owl JBTS7|Joubert syndrome 7|RPGRIP1L Joubert syndrome|Joubert syndrome caused by mutation in RPGRIP1L|Joubert syndrome type 7 OMIM:611560|UMLS:C1969053|DOID:0111002|MESH:C566916 owl:Class HGNC:29168 biolink:NamedThing RPGRIP1L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002001 biolink:NamedThing joint of rib Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints. tmpak2llvmy_mondo_relaxed.owl rib joint owl:Class MONDO:0008575 biolink:NamedThing nicotine dependence Physical and psychological dependence on nicotine. tmpak2llvmy_mondo_relaxed.owl tobacco addiction, susceptibility to|cigarette habituation, susceptibility to|tobacco use disorder|nicotine addiction, susceptibility to|nicotine addiction|nicotine dependence, susceptibility to|susceptibility to tobacco addiction|smoking habit, susceptibility to MESH:D014029|NCIT:C54203|ICD10:F17.20|EFO:0003768|SCTID:56294008|ICD9:305.1|DOID:0050742|OMIM:188890|ICD10:F17|ICD10:F17.2 owl:Class UBERON:0001608 biolink:NamedThing dilatator pupillae A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl pupil dilator muscle|pupillary dilator|pupillary muscle|dilator pupillae|musculus dilatator pupillae|dilator pupillae muscle|dilator muscle of pupil|iris dilator|iris dilator muscle|pupillary dilator muscle|dilator of pupil|pupil dilator|radial muscle|radial muscle of iris|musculus dilator pupillae|radiating fibers owl:Class MONDO:0024567 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. tmpak2llvmy_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies 1|Ihprf|IHPRF1|NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN OMIM:615419|UMLS:C3809454 owl:Class HGNC:19082 biolink:NamedThing NALCN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014571 biolink:NamedThing optic atrophy 9 tmpak2llvmy_mondo_relaxed.owl optic atrophy 9|ACO2 autosomal recessive isolated optic atrophy|autosomal recessive isolated optic atrophy caused by mutation in ACO2|OPA9 OMIM:616289|UMLS:C4085249|DOID:0111442 owl:Class HGNC:118 biolink:NamedThing ACO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011502 biolink:NamedThing Wolfram syndrome 2 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. tmpak2llvmy_mondo_relaxed.owl Wolfram syndrome type 2|WFS2|Wolfram syndrome caused by mutation in CISD2|CISD2 Wolfram syndrome|WOLFRAM syndrome 2|Wolfram syndrome 2 OMIM:604928|ICD10:E13.8|DOID:0110630|UMLS:C1858028|MESH:C565733 owl:Class GO:0042613 biolink:NamedThing MHC class II protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013398 biolink:NamedThing acne inversa, familial, 3 Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene. tmpak2llvmy_mondo_relaxed.owl ACNINV3|acne inversa, familial, type 3|familial acne inversa caused by mutation in PSEN1|acne inversa, familial, 3|PSEN1 familial acne inversa OMIM:613737|UMLS:C3151038 owl:Class HGNC:9508 biolink:NamedThing PSEN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006224 biolink:NamedThing elbow joint primordium tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001433 biolink:NamedThing Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. tmpak2llvmy_mondo_relaxed.owl Enlarged liver and spleen UMLS:C0019214|SNOMEDCT_US:36760000 peter 2008-02-20T10:51:00Z human_phenotype owl:Class MONDO:0007281 biolink:NamedThing cataract 4 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene. tmpak2llvmy_mondo_relaxed.owl CCA3|cataract, Nonnuclear polymorphic congenital|cataract (disease) caused by mutation in CRYGD|CRYGD cataract (disease)|cataract 4, multiple types|cataract, congenital, cerulean type, 3|cataract 4, multiple types, with or without microcornea|CTRCT4|cataract, crystalline aculeiform|cataract, punctate, progressive juvenile-onset|cataract 4 multiple types with or without microcornea|congenital cataract cerulean type 3 ICD10:Q12.0|DOID:0110234|OMIM:115700 owl:Class HGNC:2411 biolink:NamedThing CRYGD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015895 biolink:NamedThing syndrome with hypoparathyroidism tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200505|Orphanet:181402 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class HP:0000829 biolink:NamedThing Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. tmpak2llvmy_mondo_relaxed.owl Low parathyroid hormone|Decreased parathyroid hormone secretion UMLS:C0020626|SNOMEDCT_US:36976004|MSH:D007011 HP:0008292|HP:0000856 human_phenotype owl:Class UBERON:0002346 biolink:NamedThing neurectoderm Embryonic ectoderm that gives rise to nervous tissue. tmpak2llvmy_mondo_relaxed.owl epithelium tubi neuralis; neuroectoderma|neural ectoderm|ventral neurogenic region|neuroectoderm|presumptive central nervous system|neuaral ectoderm owl:Class GO:0006544 biolink:NamedThing glycine metabolic process The chemical reactions and pathways involving glycine, aminoethanoic acid. tmpak2llvmy_mondo_relaxed.owl glycine metabolism owl:Class GO:0050729 biolink:NamedThing positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response. tmpak2llvmy_mondo_relaxed.owl stimulation of inflammatory response|activation of inflammatory response|up regulation of inflammatory response|upregulation of inflammatory response|up-regulation of inflammatory response owl:Class MONDO:0013482 biolink:NamedThing Meckel syndrome, type 8 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpak2llvmy_mondo_relaxed.owl MKS8|Meckel syndrome 8|Meckel syndrome caused by mutation in TCTN2|Meckel syndrome, type 8|TCTN2 Meckel syndrome|Meckel-Gruber syndrome, type 8 ICD10:Q61.9|UMLS:C3836857|OMIM:613885|DOID:0070122 owl:Class MONDO:0010571 biolink:NamedThing otopalatodigital syndrome type 2 Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. tmpak2llvmy_mondo_relaxed.owl otopalatodigital syndrome, type 2|OPD syndrome 2|otopalatodigital syndrome, type II|OPD2|cranioorodigital syndrome|FPO|Andre syndrome|cranio-oro-digital syndrome|OPD II syndrome|faciopalatoosseous syndrome|OPD 2 syndrome|oto-palato-digital syndrome type 2 ICD9:759.89|Orphanet:90652|GARD:0005802|DOID:0111784|ICD10:Q87.0|SCTID:42432003|OMIM:304120|MESH:C538089 owl:Class GO:0035306 biolink:NamedThing positive regulation of dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. tmpak2llvmy_mondo_relaxed.owl stimulation of dephosphorylation|up regulation of dephosphorylation|upregulation of dephosphorylation|up-regulation of dephosphorylation|activation of dephosphorylation owl:Class NCBITaxon:693995 biolink:NamedThing Coronavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016938 biolink:NamedThing partial trisomy of chromosome 20 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome 20|partial trisomy of chromosome type 20 UMLS:C4518509|Orphanet:262692|SCTID:726360002 owl:Class OBO:CHR_9606-chr20 biolink:NamedThing chr20 (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 0 hg38 owl:Class MONDO:0018705 biolink:NamedThing infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome tmpak2llvmy_mondo_relaxed.owl ANOAC|axonal neuropathy-optic atrophy-cognitive deficit syndrome UMLS:CN242083|Orphanet:457205 owl:Class GO:0051445 biolink:NamedThing regulation of meiotic cell cycle Any process that modulates the rate or extent of progression through the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl modulation of meiotic cell cycle progression|regulation of progression through meiotic cell cycle|meiotic cell cycle regulation|meiotic cell cycle regulator|meiotic cell cycle modulation|regulation of meiotic cell cycle progression owl:Class MONDO:0017416 biolink:NamedThing postpoliomyelitis syndrome Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. tmpak2llvmy_mondo_relaxed.owl postpoliomyelitis syndrome|postpoliomyelitic syndrome|postpoliomyelitis sequelae|post polio syndrome|postpolio sequelae|post-polio muscular atrophy|post-poliomyelitic syndrome|postpolio syndrome|post-polio sequelae|polio late effects GARD:0004454|UMLS:C0080040|SCTID:31097004|EFO:0007454|Orphanet:2942|MESH:D016262|DOID:4952|ICD10:G14 owl:Class GO:0010511 biolink:NamedThing regulation of phosphatidylinositol biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006661 biolink:NamedThing phosphatidylinositol biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpak2llvmy_mondo_relaxed.owl phosphoinositide biosynthetic process|phosphatidylinositol synthesis|phosphatidylinositol formation|phosphatidylinositol biosynthesis|PtdIns biosynthetic process|PtdIns biosynthesis|phosphatidylinositol anabolism|phosphoinositide biosynthesis owl:Class OBO:CHR_9606-chr3q27.3 biolink:NamedThing chr3q27.3 (Human) tmpak2llvmy_mondo_relaxed.owl 188200000 186300000 hg38 owl:Class MONDO:0013635 biolink:NamedThing Adams-Oliver syndrome 2 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene. tmpak2llvmy_mondo_relaxed.owl Adams-Oliver syndrome 2|Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome type 2|DOCK6 Adams-Oliver syndrome|AOS2 OMIM:614219|UMLS:C3280182 owl:Class HGNC:19189 biolink:NamedThing DOCK6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021119 biolink:NamedThing non-functioning endocrine neoplasm A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl endocrine-inactive tumor|non-functioning endocrine neoplasm|nonfunctioning tumor|nonfunctional Endocrine neoplasm UMLS:C2986656|NCIT:C94760 owl:Class UBERON:0012172 biolink:NamedThing stomach primordium A primordium that has the potential to develop into a stomach. tmpak2llvmy_mondo_relaxed.owl stomach endoderm owl:Class UBERON:0035005 biolink:NamedThing preputial swelling of male tmpak2llvmy_mondo_relaxed.owl prepuce of male owl:Class MONDO:0020217 biolink:NamedThing secondary dysgenetic glaucoma associated with neural crest cell migration anomaly tmpak2llvmy_mondo_relaxed.owl glaucoma associated with neural crest cell migration anomaly 2022-03-01 Orphanet:98632 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: secondary dysgenetic glaucoma' MONDO_0020216 owl:Class GO:0001755 biolink:NamedThing neural crest cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021129 biolink:NamedThing microphthalmia Congenital or developmental anomaly in which the eyeballs are abnormally small. tmpak2llvmy_mondo_relaxed.owl microphthalmia|microphthalmos|simple microphthalmos|nanophthalmos ICD10:Q11.2|ICD9:743.10|HP:0000568|OMIMPS:600165|DOID:10629|SCTID:204108000|NCIT:C98989|MESH:D008850|EFO:0005569|ICD9:743.1|ICD9:743.11 owl:Class GO:0120036 biolink:NamedThing plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010047 biolink:NamedThing oral gland Gland of the epithelium lining the oral cavity. The most common are the salivary glands. tmpak2llvmy_mondo_relaxed.owl oral region gland|oral cavity gland|gland of oral region|buccal gland|mouth gland|gland of oral opening owl:Class UBERON:0001830 biolink:NamedThing minor salivary gland One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP]. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5759 biolink:NamedThing Entamoeba histolytica tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013898 biolink:NamedThing karyomegalic interstitial nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. tmpak2llvmy_mondo_relaxed.owl interstitial nephritis, karyomegalic|FAN1 interstitial nephritis|KMIN|systemic karyomegaly|interstitial nephritis caused by mutation in FAN1|karyomegalic interstitial nephritis|kin GARD:0011003|ICD10:N11.8|UMLS:C3553774|DOID:0060911|OMIM:614817|Orphanet:401996 https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis owl:Class HGNC:29170 biolink:NamedThing FAN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013905 biolink:NamedThing autosomal recessive spinocerebellar ataxia 13 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. tmpak2llvmy_mondo_relaxed.owl SCAR13|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive type 13|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive 13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|autosomal recessive spinocerebellar ataxia 13 Orphanet:324262|OMIM:614831|ICD10:G11.1|UMLS:C3553816|DOID:0080062 owl:Class HGNC:4593 biolink:NamedThing GRM1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010893 biolink:NamedThing median external naris Am unpaired external naris that lies in the midline of the head. tmpak2llvmy_mondo_relaxed.owl nasohypophysial opening|median anterior naris|median nostril owl:Class MONDO:0017213 biolink:NamedThing postorgasmic illness syndrome A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. tmpak2llvmy_mondo_relaxed.owl post orgasmic sick syndrome|POIS UMLS:CN202682|GARD:0010809|Orphanet:279947 https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome|https://github.com/monarch-initiative/mondo/issues/3570 owl:Class OBO:MF_0000061 biolink:NamedThing orgasm Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure. http://en.wikipedia.org/wiki/Orgasm tmpak2llvmy_mondo_relaxed.owl sexual climax MFOMD_0000207 owl:Class UBERON:0003918 biolink:NamedThing kidney mesenchyme Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of kidney owl:Class HP:0001450 biolink:NamedThing Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. tmpak2llvmy_mondo_relaxed.owl Y-linked MSH:D050173|UMLS:C0814045 human_phenotype owl:Class MONDO:0004911 biolink:NamedThing cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. tmpak2llvmy_mondo_relaxed.owl ICD9:093.9|ICD9:093.8|UMLS:C0039130|ICD9:093.89|DOID:9880|SCTID:83883001 owl:Class HP:0002617 biolink:NamedThing Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. tmpak2llvmy_mondo_relaxed.owl Aneurysms|Aneurysmal disease|Aneurysmal dilatation|Aneurysm|Wider than typical opening or gap MSH:D000783|UMLS:C0002940|SNOMEDCT_US:432119003|SNOMEDCT_US:85659009|UMLS:C4020848|Fyler:2399 Aneurysm is considered a severe form of dilatation. human_phenotype owl:Class HGNC:6619 biolink:NamedThing LIPC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013178 biolink:NamedThing congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy Congenital, LMNA-related|muscular dystrophy, congenital, LMNA-related|L-CMD|MDCL|LMNA congenital muscular dystrophy|LMNA-related congenital muscular dystrophy|congenital muscular dystrophy caused by mutation in LMNA|congenital muscular dystrophy LMNA-related GARD:0012585|ICD10:G71.2|Orphanet:157973|DOID:0110640|UMLS:C2750785|NCIT:C148369|MESH:C567708|OMIM:613205 https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation owl:Class UBERON:0005419 biolink:NamedThing pectoral appendage bud A limb bud that develops into a forelimb or pectoral fin. tmpak2llvmy_mondo_relaxed.owl pectoral fin bud|forelimb - pectoral fin bud|pectoral fin buds owl:Class UBERON:0004793 biolink:NamedThing secretion of exocrine pancreas A secretion that is part of a exocrine pancreas [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pancreatic exocrine secretion|pars exocrina pancreatis secretion|secretion of pars exocrina pancreatis|exocrine pancreas secretion owl:Class MONDO:0014423 biolink:NamedThing severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. tmpak2llvmy_mondo_relaxed.owl SCID due to DNA-PKcs deficiency|immunodeficiency 26 with or without neurologic abnormalities|IMD26 ICD10:D81.1|UMLS:C4014833|OMIM:615966|Orphanet:317425|SCTID:716871006 owl:Class HGNC:9413 biolink:NamedThing PRKDC tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:29202 biolink:NamedThing isocyanic acid A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology. tmpak2llvmy_mondo_relaxed.owl methenamide|oxidoazanediidocarbon|isozyansaeure|isocyansaeure|isocyanate|carbimide|hydrogen isocyanate|ICA|HNCO|HN=C=O|isocyanic acid|[C(NH)O] owl:Class CHEBI:28024 biolink:NamedThing cyanic acid tmpak2llvmy_mondo_relaxed.owl Cyanic acid|hydroxidonitridocarbon|hydrogen nitridooxocarbonate|Zyansaeure|nitridooxocarbonic acid|[C(N)OH]|Cyansaeure|HOCN owl:Class GO:0033673 biolink:NamedThing negative regulation of kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl kinase inhibitor|down regulation of kinase activity|down-regulation of kinase activity|inhibition of kinase activity|downregulation of kinase activity owl:Class GO:0051459 biolink:NamedThing regulation of corticotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpak2llvmy_mondo_relaxed.owl regulation of adrenocorticotropin secretion|regulation of adrenotropin secretion|regulation of corticotropic hormone secretion|regulation of adrenotropin hormone secretion|regulation of ACTH secretion|regulation of adrenocorticotropic hormone secretion owl:Class GO:0051458 biolink:NamedThing corticotropin secretion The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus. tmpak2llvmy_mondo_relaxed.owl corticotropic hormone secretion|adrenocorticotropic hormone secretion|adrenotropin secretion|adrenocorticotropin secretion|adrenotropic hormone secretion|ACTH secretion owl:Class MONDO:0008218 biolink:NamedThing Hailey-Hailey disease Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). tmpak2llvmy_mondo_relaxed.owl BCPM|benign chronic familial pemphigus of Hailey-Hailey|Hailey-Hailey disease|benign familial pemphigus|benign chronic pemphigus|familial benign chronic pemphigus|pemphigus, benign familial|familial benign pemphigus Orphanet:2841|UMLS:C0085106|OMIM:169600|GARD:0006559|MESH:D016506|NCIT:C82865|DOID:0050429|ICD10:Q82.8|SCTID:79468000 https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease owl:Class HGNC:13211 biolink:NamedThing ATP2C1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007276 biolink:NamedThing gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. tmpak2llvmy_mondo_relaxed.owl gametogenesis owl:Class GO:0019953 biolink:NamedThing sexual reproduction A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001517 biolink:NamedThing stomach enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach. tmpak2llvmy_mondo_relaxed.owl cl owl:Class UBERON:0001160 biolink:NamedThing fundus of stomach The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]. tmpak2llvmy_mondo_relaxed.owl stomach fundus|fundus ventricularis|fundus ventriculi|gastric fundus|fundus gastricus (ventricularis)|fundus gastricus|fundus gastricus ventricularis owl:Class ENVO:01001549 biolink:NamedThing freezing of water into water ice A freezing process during which liquid water is transformed into water ice. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000127 biolink:NamedThing facial nucleus the group of motor neurons residing in the pons that innervate the muscles of facial expression tmpak2llvmy_mondo_relaxed.owl facial VII nucleus|nucleus of facial nerve|facial nerve nucleus|facial VII motor nucleus owl:Class UBERON:0010123 biolink:NamedThing future facial nucleus A gray matter that has the potential to develop into a facial nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013052 biolink:NamedThing retinitis pigmentosa 42 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in KLHL7|KLHL7 retinitis pigmentosa|retinitis pigmentosa 42|retinitis pigmentosa type 42|RP42 OMIM:612943|DOID:0110386|UMLS:C2751986|ICD10:H35.5|MESH:C567854 owl:Class HGNC:15646 biolink:NamedThing KLHL7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013176 biolink:NamedThing ichthyosis-short stature-brachydactyly-microspherophakia syndrome tmpak2llvmy_mondo_relaxed.owl Weill-Marchesani-like syndrome|Weill-Marchesani syndrome 4|ichthyosis-short stature-brachydactyly-microspherophakia syndrome|15q26.3 microdeletion syndrome|WMS4 Orphanet:363992|MESH:C567710|OMIM:613195|ICD10:Q93.5|UMLS:C2750787 owl:Class HGNC:17109 biolink:NamedThing ADAMTS17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014295 biolink:NamedThing hereditary spastic paraplegia 57 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 57, autosomal recessive|TFG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 57|autosomal recessive spastic paraplegia type 57|SPG57|hereditary spastic paraplegia type 57|spastic paraplegia due to partial TFG deficiency|hereditary spastic paraplegia caused by mutation in TFG ICD10:G11.4|EFO:0009017|Orphanet:431329|SCTID:723826007|UMLS:C4510084|UMLS:C3714897|DOID:0110809|OMIM:615658 owl:Class HGNC:11758 biolink:NamedThing TFG tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002013 biolink:NamedThing Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. tmpak2llvmy_mondo_relaxed.owl Emesis|Throwing up|Vomiting SNOMEDCT_US:422400008|SNOMEDCT_US:300359004|SNOMEDCT_US:249497008|MEDDRA:10047700|MSH:D014839|UMLS:C0042963 human_phenotype owl:Class MONDO:0042488 biolink:NamedThing Cestode infectious disease Infections with true tapeworms of the helminth subclass Cestoda. tmpak2llvmy_mondo_relaxed.owl tapeworm infection|Raillietiniases|Dipylidiasis|Raillietiniasis|infection, cestode|Cestodiasis|Cestoda caused disease or disorder|Bertielliases|infections, tapeworm|Bertielliasis|cestode infection|Coenuriases|tapeworm infections|cestode infestation|disease due to Cestoda|infection, tapeworm|Dipylidiases|Cestoda disease or disorder|Cestodosis|Cenuriases|Coenuriasis|infections, cestode|Cenuriasis|Cestoda infectious disease ICD9:123.8|SCTID:86133004|EFO:1001287|ICD9:123.9|MESH:D002590 owl:Class GO:0014053 biolink:NamedThing negative regulation of gamma-aminobutyric acid secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpak2llvmy_mondo_relaxed.owl negative regulation of GABA secretion|down-regulation of gamma-aminobutyric acid secretion|inhibition of gamma-aminobutyric acid secretion|down regulation of gamma-aminobutyric acid secretion|downregulation of gamma-aminobutyric acid secretion owl:Class CHEBI:26079 biolink:NamedThing phosphoric acid derivative tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:26078 biolink:NamedThing phosphoric acid A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. tmpak2llvmy_mondo_relaxed.owl acide phosphorique|trihydrogen tetraoxophosphate(3-)|Phosphoric acid|Phosphorsaeureloesungen|tetraoxophosphoric acid|Orthophosphoric acid|orthophosphoric acid|H3PO4|[PO(OH)3]|Phosphate|Phosphorsaeure|phosphoric acid|trihydroxidooxidophosphorus|acidum phosphoricum owl:Class UBERON:0005598 biolink:NamedThing trunk somite A somite that is part of a trunk. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002097 biolink:NamedThing cortical cell of adrenal gland A cell of the adrenal cortex. Cell types include those that synthesize and secrete chemical derivatives (steroids) of cholesterol. tmpak2llvmy_mondo_relaxed.owl adrenocortical cell|adrenal cortex cell FMA:69545 tmeehan 2010-08-24T01:37:44Z cell owl:Class ECTO:9001813 biolink:NamedThing exposure to amphiprotic solvent An exposure to amphiprotic solvent. tmpak2llvmy_mondo_relaxed.owl exposure to amphiprotic solvent owl:Class CHEBI:48360 biolink:NamedThing amphiprotic solvent Self-ionizing solvent possessing both characteristics of Bronsted acids and bases. tmpak2llvmy_mondo_relaxed.owl amphiprotic solvent owl:Class MONDO:0002230 biolink:NamedThing ovarian Wilms tumor An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. tmpak2llvmy_mondo_relaxed.owl ovarian Wilms' cancer|ovary Wilms tumor|ovarian Wilms' tumor|ovarian Wilms tumor NCIT:C40443|DOID:2153|UMLS:C1518746 owl:Class MONDO:0030062 biolink:NamedThing arrhythmogenic right ventricular dysplasia, familial, 14 tmpak2llvmy_mondo_relaxed.owl ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14|arrhythmogenic right ventricular dysplasia, familial, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14|ARVD14 OMIM:618920 owl:Class HGNC:1759 biolink:NamedThing CDH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017089 biolink:NamedThing isolated megalencephaly A megalencephaly (disease) that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated megalencephaly (disease)|nonsyndromic megalencephaly (disease)|isolated macrencephaly ICD10:Q04.5|Orphanet:268920 owl:Class PATO:0000498 biolink:NamedThing increased duration A duration quality of a process which is relatively high. tmpak2llvmy_mondo_relaxed.owl increased time|increased period|prolonged period|chronic|high time|slow time owl:Class UBERON:0010699 biolink:NamedThing manual digit metacarpus cartilage element tmpak2llvmy_mondo_relaxed.owl hand digit metacarpus cartilage element|fore limb digit metacarpus cartilage element|finger metacarpus cartilage element|metacarpal cartilage condensation|metacarpus cartilage element|metacarpal cartilage element owl:Class MONDO:0021187 biolink:NamedThing hyperlipidemia tmpak2llvmy_mondo_relaxed.owl lipidemia|hyperlipemias|lipemia|lipemias|lipidemias|hyperlipidemia (disease)|hyperlipemia|hyperlipidemia hyperlipidemia (disease) SCTID:55822004|ICD10:E78.5|ICD9:272.4|UMLS:CN236649|UMLS:C0020473|MESH:D006949|HP:0003077|EFO:0003774 owl:Class HP:0003077 biolink:NamedThing Hyperlipidemia An elevated lipid concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated lipids in blood MSH:D006949|SNOMEDCT_US:55822004|UMLS:C0020473 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). HP:0008356|HP:0008159 human_phenotype owl:Class MONDO:0004044 biolink:NamedThing ureter urothelial papilloma A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter. tmpak2llvmy_mondo_relaxed.owl ureter urothelial papilloma UMLS:C1519823|DOID:6936|NCIT:C6160 owl:Class MONDO:0009005 biolink:NamedThing complement component C1r/C1s deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. tmpak2llvmy_mondo_relaxed.owl complement component C1r/C1s deficiency|C1r/C1s deficiency UMLS:C3150274|OMIM:216950|NCIT:C119991 owl:Class HGNC:1246 biolink:NamedThing C1R tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000020 biolink:NamedThing inner cell mass cell Any native cell that is part of a inner cell mass. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-24T23:16:53Z cell owl:Class NCBITaxon:32525 biolink:NamedThing Theria tmpak2llvmy_mondo_relaxed.owl Theria GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004985 biolink:NamedThing bipolar disorder A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. tmpak2llvmy_mondo_relaxed.owl manic bipolar I disorder|bipolar disorder manic phase|major bipolar affective disorder|manic-depressive illness|manic bipolar affective disorder|manic depression|bipolar affective disorder|bipolar depression|MAFD|depressive-manic psych.|mixed bipolar disorder|bipolar disorder|manic depressive disorder|manic-depressive psychosis|manic-depression|manic disorder|major affective disorder NCIT:C34423|ICD9:296.89|EFO:0000289|ICD10:F31|MESH:D001714|SCTID:13746004|UMLS:C0005586|ICD9:296.80|ICD9:296.60|ICD10:F31.9|DOID:3312|ICD9:296.40|NIFSTD:birnlex_12754 owl:Class MONDO:0004617 biolink:NamedThing recurrent hypersomnia Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) tmpak2llvmy_mondo_relaxed.owl primary recurrent hypersomnia DOID:8619|ICD9:327.13|ICD10:G47.13|UMLS:C0751226|SCTID:426451004 owl:Class GO:0043384 biolink:NamedThing pre-T cell receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. tmpak2llvmy_mondo_relaxed.owl pre-T-cell receptor complex|pre-T lymphocyte receptor complex|pre-T-lymphocyte receptor complex|pre-TCR complex owl:Class GO:0005887 biolink:NamedThing integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl integral to plasma membrane owl:Class UBERON:0034730 biolink:NamedThing olfactory tract linking bulb to ipsilateral dorsal telencephalon tmpak2llvmy_mondo_relaxed.owl lateral olfactory tract|tractus olfactorius lateralis owl:Class N51ea82cdd170472da7a20298e2da1e34 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019283 biolink:NamedThing nail anomaly A epidermal appendage anomaly that involves the nail. tmpak2llvmy_mondo_relaxed.owl epidermal appendage anomaly of nail|nail epidermal appendage anomaly MedDRA:10028684|Orphanet:79368 owl:Class MONDO:0014650 biolink:NamedThing familial temporal lobe epilepsy 8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 8|epilepsy, familial temporal lobe, type 8|familial temporal lobe epilepsy type 8|ETL8 DOID:0060754|OMIM:616461|UMLS:C4225318 owl:Class HGNC:4114 biolink:NamedThing GAL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014211 biolink:NamedThing primary ciliary dyskinesia 26 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 26|primary ciliary dyskinesia caused by mutation in CFAP298|CILD26|primary ciliary dyskinesia 26 with or without situs inversus|ciliary dyskinesia, primary, 26, with or without situs inversus|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 26|primary ciliary dyskinesia type 26 ICD10:Q34.8|DOID:0110627|OMIM:615500|UMLS:C3809684 owl:Class HGNC:1301 biolink:NamedThing CFAP298 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013627 biolink:NamedThing 3M syndrome 3 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. tmpak2llvmy_mondo_relaxed.owl 3M syndrome 3|three M syndrome 3|three M syndrome type 3|3-M syndrome caused by mutation in CCDC8|3M3|CCDC8 3-M syndrome UMLS:C3280146|OMIM:614205 owl:Class UBERON:0005344 biolink:NamedThing peritoneal vaginal process A peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal. In the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck[MP]. tmpak2llvmy_mondo_relaxed.owl processus vaginalis peritoneus|vaginal process of peritoneum|processus vaginalis|vaginal process|saccus vaginalis|vaginal process of the peritoneum|processus vaginalis peritonei|peritoneal diverticulum|processus vaginalis peritonei masculinus|vaginal process of testis owl:Class MONDO:0014509 biolink:NamedThing vitelliform macular dystrophy 5 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene. tmpak2llvmy_mondo_relaxed.owl IMPG2 vitelliform macular dystrophy|macular dystrophy, vitelliform, 5|macular dystrophy, vitelliform, type 5|vitelliform macular dystrophy caused by mutation in IMPG2|VMD5 OMIM:616152|UMLS:C4015343 owl:Class HGNC:18362 biolink:NamedThing IMPG2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001171 biolink:NamedThing portal lobule The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001742 biolink:NamedThing epiglottic cartilage The most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044907 biolink:NamedThing metastatic squamous cell carcinoma A squamous cell carcinoma which has spread from its original site of growth to another anatomic site. tmpak2llvmy_mondo_relaxed.owl Metastatic squamous cell carcinoma NCIT:C4104|UMLS:C0334246|SCTID:403906006 owl:Class MONDO:0020681 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 1 tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|Dundar syndrome|adducted thumb-clubfoot syndrome|EDSMC|EDSMC1|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, type Vib, formerly|Arthrogryposis, Distal, with peculiar facies and hydronephrosis NCIT:C168975|OMIM:601776 owl:Class HGNC:24464 biolink:NamedThing CHST14 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:37162 biolink:NamedThing Mycobacterium avium complex sp. tmpak2llvmy_mondo_relaxed.owl Mycobacterium avium complex bacterium GC_ID:11 ncbi_taxonomy owl:Class MONDO:0016866 biolink:NamedThing partial deletion of chromosome 1 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 1|partial monosomy of chromosome 1 ICD10:Q93.5|Orphanet:261766 owl:Class OBO:CHR_9606-chr1 biolink:NamedThing chr1 (Human) tmpak2llvmy_mondo_relaxed.owl 248956422 0 hg38 owl:Class MONDO:0013854 biolink:NamedThing primary ciliary dyskinesia 17 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 17|primary ciliary dyskinesia 17 with or without situs inversus|ciliary dyskinesia, primary, 17, with or without situs inversus|primary ciliary dyskinesia 17|ciliary dyskinesia, primary, type 17|primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, 17|CILD17|CCDC103 primary ciliary dyskinesia DOID:0110621|OMIM:614679|ICD10:Q34.8|UMLS:C3542550 owl:Class UBERON:0010309 biolink:NamedThing palpebral bone An ossified element investing the upper eyelid. tmpak2llvmy_mondo_relaxed.owl palpebral owl:Class MONDO:0010461 biolink:NamedThing syndromic X-linked intellectual disability Nascimento type X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic 30|MRXSN|mental retardation, X-linked, syndromic, Nascimento type|mental retardation, X-linked syndromic, Nascimento-type|syndromic X-linked intellectual disability Nascimento type|intellectual disability, X-linked, syndromic 30|X-linked intellectual disability-nail dystrophy-seizures syndrome|intellectual disability, X-linked, syndromic, Nascimento type|intellectual disability, X-linked syndromic, Nascimento-type|X-linked intellectual disability, Nascimento type Orphanet:163956|OMIM:300860|ICD10:Q87.8|DOID:0060820|UMLS:C3275464 owl:Class HGNC:12472 biolink:NamedThing UBE2A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003487 biolink:NamedThing skin sebaceous gland A holocrine gland of the dermis that secretes sebum into hair follicles. tmpak2llvmy_mondo_relaxed.owl sebaceous gland of skin|cutaneous sebaceous gland owl:Class GO:0048820 biolink:NamedThing hair follicle maturation A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009210 biolink:NamedThing pharyngeal membrane A thin fold of ectoderm and endoderm that separates the pharyngeal pouches from the pharyngeal clefts in a developing embryo. tmpak2llvmy_mondo_relaxed.owl branchial membrane|pharyngeal membrane|branchial arch membrane owl:Class N0d118996c0fe480ea3607e1ed9fb0ba9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014996 biolink:NamedThing intellectual disability, autosomal recessive 58 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. tmpak2llvmy_mondo_relaxed.owl ELP2-related disorder|mental retardation, autosomal recessive type 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|intellectual disability, autosomal recessive type 58|intellectual disability, autosomal recessive 58|autosomal recessive intellectual disability 58|MRT58|mental retardation, autosomal recessive 58|ELP2 autosomal recessive non-syndromic intellectual disability OMIM:617270|GARD:0013361|UMLS:C4310641 owl:Class HGNC:18248 biolink:NamedThing ELP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010487 biolink:NamedThing intellectual disability, X-linked 99 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked type 99|MRX99|intellectual disability, X-linked 99|intellectual disability, X-linked type 99|USP9X non-syndromic X-linked intellectual disability|mental retardation, X-linked 99|non-syndromic X-linked intellectual disability caused by mutation in USP9X OMIM:300919|UMLS:C3806746 owl:Class HGNC:12632 biolink:NamedThing USP9X tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010493 biolink:NamedThing Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. tmpak2llvmy_mondo_relaxed.owl TSR2 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in TSR2|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DBA14 OMIM:300946|UMLS:C4225422 owl:Class HGNC:25455 biolink:NamedThing TSR2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000930 biolink:NamedThing stomodeum Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. tmpak2llvmy_mondo_relaxed.owl stomatodeum|stomodeal-hypophyseal primordium|oral ectoderm|mouth primordium|oral pit|primitive oral cavity|stomodaeum|mouth pit owl:Class MONDO:0013586 biolink:NamedThing Chitotriosidase deficiency tmpak2llvmy_mondo_relaxed.owl CHITOTRIOSIDASE deficiency|Chitotriosidase deficiency|CHITD UMLS:C3279902|OMIM:614122 owl:Class HGNC:1936 biolink:NamedThing CHIT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016697 biolink:NamedThing low grade ependymoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN201940|Orphanet:251633|ICD10:D43.2 owl:Class GO:0046660 biolink:NamedThing female sex differentiation The establishment of the sex of a female organism by physical differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016072 biolink:NamedThing anomaly of puberty or/and menstrual cycle of genetic origin An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic anomaly of puberty or/and menstrual cycle Orphanet:202940 owl:Class UBERON:0001311 biolink:NamedThing inferior vesical artery An artery that supplies blood to the lower urinary bladder. tmpak2llvmy_mondo_relaxed.owl arteria vesicali inferior|arteria vesicalis inferior owl:Class UBERON:0001309 biolink:NamedThing internal iliac artery The internal iliac artery (formerly known as the hypogastric artery) is the main artery of the pelvis. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl hypogastric artery|arteria iliaca interna owl:Class MONDO:0013469 biolink:NamedThing retinitis pigmentosa 38 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene. tmpak2llvmy_mondo_relaxed.owl MERTK retinitis pigmentosa|Rod-cone dystrophy, childhood-onset|retinitis pigmentosa type 38|retinitis pigmentosa 38|RP38|retinitis pigmentosa caused by mutation in MERTK OMIM:613862|DOID:0110367|ICD10:H35.5|UMLS:C3151228 owl:Class HGNC:7027 biolink:NamedThing MERTK tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002699 biolink:NamedThing positive regulation of immune effector process Any process that activates or increases the frequency, rate, or extent of an immune effector process. tmpak2llvmy_mondo_relaxed.owl upregulation of immune effector process|activation of immune effector process|up-regulation of immune effector process|up regulation of immune effector process|stimulation of immune effector process owl:Class GO:0030072 biolink:NamedThing peptide hormone secretion The regulated release of a peptide hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005002 biolink:NamedThing mucosa of right hepatic duct A mucosa that is part of a right hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right hepatic duct mucosa of organ|organ mucosa of right hepatic duct|right hepatic duct organ mucosa|mucosa of organ of right hepatic duct|right hepatic ductal mucosa|mucous membrane of right hepatic duct|right hepatic duct mucosa|right hepatic duct mucous membrane owl:Class MONDO:0012212 biolink:NamedThing Loeys-Dietz syndrome 1 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. tmpak2llvmy_mondo_relaxed.owl TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome type 1|LDS1|Loeys-Dietz syndrome caused by mutation in TGFBR1|Loeys-Dietz aortic aneurysm syndrome|Furlong syndrome|aortic aneurysm, familial thoracic 5|Loeys-Dietz syndrome 1 UMLS:C2697933|DOID:0070235|GARD:0009458|NCIT:C75119|Orphanet:97295|OMIM:609192 owl:Class HGNC:11772 biolink:NamedThing TGFBR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013947 biolink:NamedThing young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. tmpak2llvmy_mondo_relaxed.owl Young adult-onset dHMN|DSMA5|autosomal recessive distal spinal muscular atrophy type 5|dSMA5|spinal muscular atrophy, distal, autosomal recessive, type 5|spinal muscular atrophy, distal, autosomal recessive, 5 UMLS:C3553989|ICD10:G12.2|OMIM:614881|Orphanet:314485 owl:Class ECTO:0000516 biolink:NamedThing exposure to hormone An exposure to hormone. tmpak2llvmy_mondo_relaxed.owl exposure to hormone owl:Class CHEBI:24621 biolink:NamedThing hormone Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. tmpak2llvmy_mondo_relaxed.owl endocrine|hormones owl:Class GO:0044106 biolink:NamedThing cellular amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013645 biolink:NamedThing gular gland A gland that is part of the gular region (throat) tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011154 biolink:NamedThing gular region Surface structure that extends from the chin covering pharynx and larynx. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009616 biolink:NamedThing presumptive midbrain A presumptive structure that has the potential to develop into a midbrain. tmpak2llvmy_mondo_relaxed.owl early midbrain|presumptive mesencephalon|future midbrain|mesencephalon owl:Class MONDO:0022963 biolink:NamedThing desmoplastic infantile astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl Desmoplastic infantile astrocytoma|DIA|Desmoplastic astrocytoma of infancy ICDO:9412/1|NCIT:C9476|UMLS:C0457179|ONCOTREE:DIA|GARD:0009617 https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma owl:Class MONDO:0014920 biolink:NamedThing patterned macular dystrophy 3 Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene. tmpak2llvmy_mondo_relaxed.owl Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, type 3|MAPKAPK3 patterned macular dystrophy|macular dystrophy, patterned, 3|MDPT3|patterned macular dystrophy caused by mutation in MAPKAPK3|patterned macular dystrophy type 3|MCRPE OMIM:617111|UMLS:C4310713|ICD10:H35.5|DOID:0060865|Orphanet:466718 owl:Class UBERON:0006218 biolink:NamedThing common atrial chamber tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000348 biolink:NamedThing ophthalmic nerve The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead. tmpak2llvmy_mondo_relaxed.owl ophthalmic division of trigeminal nerve (V1)|opthalmic nerve|profundus|ramus opthalmicus profundus (ramus V1)|ophthalmic nerve [Va]|ophthalmic division [Va]|nervus ophthalmicus (Va)|ethmoidal nerve|nervus ophthalmicus [v1]|ophthalmic nerve [V1]|nervus ophthalmicus [va]|first division of fifth cranial nerve|trigeminal V nerve ophthalmic division|ophthalmic division [V1]|cranial nerve V, branch V1|profundal nerve|first division of trigeminal nerve|nervus ophthalmicus (V1)|ophthalmic division of fifth cranial nerve|first branch of fifth cranial nerve|ophthalmic division of trigeminal nerve (Va)|rostral branch of trigeminal nerve|trigeminal nerve ophthalmic division|ciliary nerve|profundus nerve|ophthalmic division owl:Class HGNC:329 biolink:NamedThing AGRN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035764 biolink:NamedThing pulmonary lymph node tmpak2llvmy_mondo_relaxed.owl pulmonary node|intrapulmonary lymph node owl:Class UBERON:0008886 biolink:NamedThing pulmonary vascular system The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. tmpak2llvmy_mondo_relaxed.owl pulmonary system|pulmonary circulatory system owl:Class HGNC:25947 biolink:NamedThing KLHL24 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8p2 biolink:NamedThing chr8p2 (Human) tmpak2llvmy_mondo_relaxed.owl 29000000 0 hg38 owl:Class OBO:CHR_9606-chr8p biolink:NamedThing chr8p (Human) tmpak2llvmy_mondo_relaxed.owl 45200000 0 hg38 owl:Class MONDO:0002200 biolink:NamedThing eccrine mixed tumor of skin A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. tmpak2llvmy_mondo_relaxed.owl eccrine sweat gland mixed neoplasm|eccrine mixed tumor (morphologic abnormality)|benign mixed tumor of skin (chondroid syringoma)|benign mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin|benign mixed tumor of the skin|eccrine mixed tumor|mixed eccrine neoplasm of the skin|mixed tumor of the skin (chondroid syringoma)|chondroid syringoma SCTID:254720009|DOID:2079|UMLS:C0346026|EFO:1000385|NCIT:C4474 MONDO:0006308 owl:Class UBERON:0000423 biolink:NamedThing eccrine sweat gland A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion. tmpak2llvmy_mondo_relaxed.owl eccrine gland|glandula sudorifera eccrina|glandula sudorifera merocrina|merocrine sweat gland owl:Class HsapDv:0000082 biolink:NamedThing newborn human stage Immature stage that refers to a newborn who is under 32 days old. tmpak2llvmy_mondo_relaxed.owl neonate|0-1 month|neonatal stage owl:Class HsapDv:0000204 biolink:NamedThing mature stage Human developmental stage that refers to a sexually mature human. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016593 biolink:NamedThing acquired ataxia A type of ataxia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired ataxia Orphanet:247242|SCTID:722968003 owl:Class CHEBI:16705 biolink:NamedThing 6-aminopenicillanic acid A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics. tmpak2llvmy_mondo_relaxed.owl Penicin|6-APA|Aminopenicillanic acid|6-Aminopenicillanic acid|6-Aminopenicillamine acid|(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|Phenacyl 6-aminopenicillinate|6beta-aminopenicillanic acid|6-Aps|Penin|6-Apa|(+)-6-aminopenicillanic acid|6-Aminopenicillanate owl:Class CHEBI:30938 biolink:NamedThing 6-aminopenicillanate tmpak2llvmy_mondo_relaxed.owl (2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate owl:Class MONDO:0100076 biolink:NamedThing juvenile idiopathic scoliosis A scoliosis with no known cause arising in a juvenile. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016857 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. tmpak2llvmy_mondo_relaxed.owl Orphanet:261559|UMLS:CN202200|ICD10:Q10.3 owl:Class OBO:CHR_9606-chr3q23 biolink:NamedThing chr3q23 (Human) tmpak2llvmy_mondo_relaxed.owl 143100000 139000000 hg38 owl:Class MONDO:0021520 biolink:NamedThing benign neoplasm of floor of mouth A benign neoplasm that involves the mouth floor. tmpak2llvmy_mondo_relaxed.owl mouth floor benign neoplasm|benign tumor of floor of mouth|benign floor of mouth tumor|benign tumor of the floor of the mouth|benign floor of mouth neoplasm|benign floor of the mouth tumor|benign neoplasm of the floor of the mouth|benign floor of the mouth neoplasm NCIT:C3593|UMLS:C0153934|ICD9:210.3|ICD10:D10.2|SCTID:92109005 owl:Class OBO:CHR_9606-chr17p1 biolink:NamedThing chr17p1 (Human) tmpak2llvmy_mondo_relaxed.owl 25100000 0 hg38 owl:Class HP:0004348 biolink:NamedThing Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. tmpak2llvmy_mondo_relaxed.owl Abnormality of bone mineralisation and ossification UMLS:C4021657 peter 2008-03-11T08:10:00Z human_phenotype owl:Class UBERON:0000092 biolink:NamedThing post-embryonic stage stage succeeding embryo, including mature structure tmpak2llvmy_mondo_relaxed.owl post-hatching stage|postembryonic stage|postembryonic owl:Class GO:0009791 biolink:NamedThing post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009572 biolink:NamedThing lumen of central canal of spinal cord A cerebrospinal fluid-filled space that runs longitudinally through the length of the entire spinal cord. The central canal is contiguous with the ventricular system of the brain. The central canal represents the adult remainder of the neural tube. tmpak2llvmy_mondo_relaxed.owl spinal cord lumen|central canal lumen|cavity of central canal of spinal cord|neural lumen owl:Class CHEBI:25806 biolink:NamedThing oxygen molecular entity tmpak2llvmy_mondo_relaxed.owl oxygen molecular entities|oxygen molecular entity owl:Class CHEBI:25805 biolink:NamedThing oxygen atom tmpak2llvmy_mondo_relaxed.owl 8O|O|oxygene|oxygen|Sauerstoff|oxigeno owl:Class MONDO:0003017 biolink:NamedThing malignant peritoneal solitary fibrous tumor A malignant form of peritoneal solitary fibrous tumor. tmpak2llvmy_mondo_relaxed.owl peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor DOID:4490 owl:Class UBERON:0005326 biolink:NamedThing mesonephric glomerulus vasculature The mesonephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the mesonephric glomerulus[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005325 biolink:NamedThing mesonephric glomerulus The mesonephric glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the mature vertebrate kidney, or mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl glomerulus owl:Class MONDO:0011104 biolink:NamedThing cataract 3 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene. tmpak2llvmy_mondo_relaxed.owl cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types|cataract, congenital, cerulean type, 2|CTRCT3|cataract 3, multiple types, with or without microcornea|CCA2|cataract 3 multiple types with or without microcornea|CRYBB2 cataract (disease)|congenital cerulean type cataract 2 DOID:0110269|MESH:C563294|OMIM:601547|UMLS:C1832175|ICD10:Q12.0 owl:Class HGNC:2398 biolink:NamedThing CRYBB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007220 biolink:NamedThing brachydactyly type B1 Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene. tmpak2llvmy_mondo_relaxed.owl brachydactyly type B caused by mutation in ROR2|BDB1|brachydactyly, type B1|brachydactyly, type B|ROR2 brachydactyly type B MESH:C566196|Orphanet:572385|DOID:0110969|OMIM:113000 owl:Class HGNC:10257 biolink:NamedThing ROR2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:29340 biolink:NamedThing hydridonitrate(2-) A divalent inorganic anion resulting from the removal of two protons from ammonia. tmpak2llvmy_mondo_relaxed.owl hydridonitrate(2-)|NH(2-)|imide|azanediide owl:Class CHEBI:29337 biolink:NamedThing azanide tmpak2llvmy_mondo_relaxed.owl dihydridonitrate(1-)|azanide|amide|NH2(-) owl:Class GO:0140237 biolink:NamedThing translation at presynapse, modulating chemical synaptic transmission Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050770 biolink:NamedThing regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007409 biolink:NamedThing axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. tmpak2llvmy_mondo_relaxed.owl neuron long process generation|axon morphogenesis|axon growth owl:Class MONDO:0009852 biolink:NamedThing hereditary intrinsic factor deficiency Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. tmpak2llvmy_mondo_relaxed.owl intrinsic factor deficiency|intrinsic factor, congenital deficiency of|pernicious Anemia, congenital, due to defect of intrinsic Factor|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|congenital pernicious anemia due to defect of intrinsic factor|congenital intrinsic factor deficiency|IFD ICD9:281.3|ICD10:D51.0|DOID:0050734|MESH:C563242|SCTID:60504009|Orphanet:332|OMIM:261000|UMLS:C1394891|GARD:0003024|MedDRA:10070440 owl:Class MONDO:0021070 biolink:NamedThing sublingual gland carcinoma A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma. tmpak2llvmy_mondo_relaxed.owl sublingual gland carcinoma|carcinoma of sublingual gland|sublingual gland cancer|carcinoma of the sublingual gland SCTID:254466003|NCIT:C8397|UMLS:C0345611 owl:Class UBERON:2000364 biolink:NamedThing hypural Laterally flattened haemal spine of an ural vertebra that lacks its arch and supports a few principal caudal lepidotrichia distally. A hypural may articulate or fuse with its ural centrum proximally or may lie ventral to the notochord. A hypural is an unpaired median bone that ossifies perichondrally. (Modified from Monod, 1968 and Arratia and Schultze, 1992). tmpak2llvmy_mondo_relaxed.owl hyp|hypurals|hypuralia owl:Class UBERON:0001987 biolink:NamedThing placenta organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. tmpak2llvmy_mondo_relaxed.owl eutherian placenta|allantoic placenta owl:Class MONDO:0013773 biolink:NamedThing porencephaly 2 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. tmpak2llvmy_mondo_relaxed.owl porencephaly 2|COL4A2 porencephaly|porencephaly type 2|porencephaly caused by mutation in COL4A2|POREN2 OMIM:614483|UMLS:C3280970 owl:Class HGNC:2203 biolink:NamedThing COL4A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009732 biolink:NamedThing congenital nephrotic syndrome, Finnish type Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. tmpak2llvmy_mondo_relaxed.owl Finnish congenital nephrosis|nephrotic syndrome, congenital|nephrotic syndrome - NPHS1 associated|nephrotic syndrome, type 1|CnF|congenital nephrotic syndrome - Finnish type|NPHS1|congenital nephrotic syndrome, Finnish type|congenital nephrotic syndrome 1|nephrosis 1, congenital, Finnish type|congenital nephrotic syndrome Finnish type|nephrosis, congenital MedDRA:10060740|SCTID:197601003|NCIT:C122795|UMLS:C0403399|Orphanet:839|GARD:0001500|ICD10:N04.8|OMIM:256300 https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type owl:Class HGNC:7908 biolink:NamedThing NPHS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100121 biolink:NamedThing SCN4A-related myopathy, autosomal recessive Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. tmpak2llvmy_mondo_relaxed.owl myopathy with ptosis and mild dystrophic pattern|congenital myopathy with severe fetal hypokinesia|congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|SCN4A-related myopathy, autosomal recessive https://www.clinicalgenome.org/affiliation/40061/ owl:Class ENVO:01001001 biolink:NamedThing plant-associated environment An environmental system determined by a green plant. tmpak2llvmy_mondo_relaxed.owl plant environment|Viridiplantae-associated environment owl:Class MONDO:0011240 biolink:NamedThing megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl macrocephaly cutis marmorata telangiectatica congenita|M-CM|megalencephaly cutis marmorata telangiectatica congenita|MCM|M-CMTC|megalencephaly-cutis marmorata telangiectatica congenita|megalocephaly cutis marmorata telangiectatica congenita|megalencephaly-capillary malformation syndrome|MCAP|macrocephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|MCMTC|megalencephaly-capillary malformation-polymicrogyria syndrome|megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation GARD:0006950|UMLS:C1865285|OMIM:602501|SCTID:703370002|ICD9:759.89|ICD10:Q87.3|MESH:C536142|Orphanet:60040 owl:Class HP:0001548 biolink:NamedThing Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. tmpak2llvmy_mondo_relaxed.owl Generalised overgrowth|General overgrowth|Generalized overgrowth UMLS:C1849265|UMLS:C3150281|UMLS:C1851731 human_phenotype owl:Class MONDO:0012865 biolink:NamedThing Pseudofolliculitis barbae tmpak2llvmy_mondo_relaxed.owl PFB|Pseudofolliculitis barbae|pili Incarnati|ingrown hairs UMLS:C0549150|ICD10:L73.1|MESH:C563016|OMIM:612318 owl:Class HGNC:24431 biolink:NamedThing KRT75 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010508 biolink:NamedThing intellectual disability, X-linked 103 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in KLHL15|mental retardation, X-linked 103|intellectual disability, X-linked 103|KLHL15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 103|mental retardation, X-linked type 103|MRX103 OMIM:300982|UMLS:C4310818 owl:Class HGNC:29347 biolink:NamedThing KLHL15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013460 biolink:NamedThing osteogenesis imperfecta type 12 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene. tmpak2llvmy_mondo_relaxed.owl OI, type 12|osteogenesis imperfecta, type 12|OI12|osteogenesis imperfecta, type XII|osteogenesis imperfecta type XII|osteogenesis imperfecta caused by mutation in SP7|SP7 osteogenesis imperfecta UMLS:C3151433|DOID:0110348|OMIM:613849|ICD10:Q78.0 owl:Class HGNC:17321 biolink:NamedThing SP7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000230 biolink:NamedThing Israeli tick typhus An infectious disease caused by infection with rickettsia conorii subsp. israelensis. tmpak2llvmy_mondo_relaxed.owl Israeli spotted fever DOID:0050043 owl:Class NCBITaxon:34632 biolink:NamedThing Rhipicephalus sanguineus tmpak2llvmy_mondo_relaxed.owl Ixodes sanguineus|brown dog tick GC_ID:1 NCBITaxon:2138176|NCBITaxon:59657 ncbi_taxonomy owl:Class UBERON:0007762 biolink:NamedThing metatarsophalangeal joint of pedal digit 5 A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5. tmpak2llvmy_mondo_relaxed.owl metatarsophalangeal joint of fifth digit of foot|metatarsophalangeal joint of fifth toe|metatarsophalangeal joint of pedal digit V|metatarsophalangeal joint of little toe owl:Class MONDO:0005542 biolink:NamedThing acute coronary syndrome Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. tmpak2llvmy_mondo_relaxed.owl coronary syndrome, acute|syndrome, acute coronary|syndromes, acute coronary|acute coronary syndromes|acute coronary syndrome|coronary syndromes, acute UMLS:C0948089|NCIT:C53652|SCTID:394659003|MESH:D054058|EFO:0005672 owl:Class PATO:0001777 biolink:NamedThing decreased flexibility A flexibility which is relatively low. tmpak2llvmy_mondo_relaxed.owl low flexibility owl:Class UBERON:0004516 biolink:NamedThing smooth muscle tissue of terminal bronchiole A portion of smooth muscle tissue that is part of a terminal bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002187 biolink:NamedThing terminal bronchiole the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls tmpak2llvmy_mondo_relaxed.owl bronchioli terminalis|terminal bronchiole tube|bronchiolus terminalis owl:Class UBERON:0004248 biolink:NamedThing pedal digit bone A bone that is part of a hindlimb digit. Typically phalanges but may include sesamoids. tmpak2llvmy_mondo_relaxed.owl foot digit bone|digit of foot bone|bone of digit of foot|digital bone of pes|hind limb digit bone|digitus pedis bone|digital bone of foot|toe bone|toe bone organ|digitus pedis bone organ|foot digit bone organ owl:Class MONDO:0010486 biolink:NamedThing Olmsted syndrome, X-linked tmpak2llvmy_mondo_relaxed.owl Olmsted syndrome, X-linked|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked OMIM:300918|UMLS:C3806745 owl:Class HGNC:11100 biolink:NamedThing SMARCA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011544 biolink:NamedThing paragangliomas 3 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. tmpak2llvmy_mondo_relaxed.owl SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|paragangliomas 3|PGL3|glomus tumors, familial, 3|paragangliomas type 3|SDHC paraganglioma|paraganglioma caused by mutation in SDHC OMIM:605373|UMLS:C1854336|GARD:0010545 https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3 owl:Class HGNC:10682 biolink:NamedThing SDHC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017970 biolink:NamedThing 46,XY disorder of sex development due to impaired androgen production tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to impaired androgen production 2022-03-01 UMLS:CN227233|Orphanet:325357 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0011309 biolink:NamedThing familial gestational hyperthyroidism tmpak2llvmy_mondo_relaxed.owl hyperthyroidism, familial gestational OMIM:603373|SCTID:703309000|Orphanet:99819|ICD10:E05.8|UMLS:C1863959|MESH:C566384|ICD9:242.80|ICD9:648.10 owl:Class HGNC:12373 biolink:NamedThing TSHR tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000043 biolink:NamedThing tendon Dense regular connective tissue that connects muscle to bone[VSAO]. tmpak2llvmy_mondo_relaxed.owl sinew|tendo owl:Class MONDO:0005905 biolink:NamedThing periodic limb movement disorder Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) tmpak2llvmy_mondo_relaxed.owl nocturnal myoclonus EFO:0007428|UMLS:C0751774|ICD9:327.51|DOID:9207|ICD10:G47.61|SCTID:418763003 owl:Class HP:0012323 biolink:NamedThing Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. tmpak2llvmy_mondo_relaxed.owl MSH:D009207|SNOMEDCT_US:34101000119105|UMLS:C0751352 peter 2013-08-11T10:21:47Z human_phenotype owl:Class HGNC:10681 biolink:NamedThing SDHB tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12p1 biolink:NamedThing chr12p1 (Human) tmpak2llvmy_mondo_relaxed.owl 35500000 0 hg38 owl:Class CL:0002275 biolink:NamedThing pancreatic PP cell A PP cell located in the islets of the pancreas. tmpak2llvmy_mondo_relaxed.owl PP-cell of pancreatic islet|pancreatic polypeptide-secreting cell|PP cell of pancreatic islet BTO:0000805|FMA:70588 The term PP cell of pancreatic acinus was obsoleted due to a lack of evidence, making PP cell of pancreatic islets synonymous with pancreatic PP cell. tmeehan 2010-09-10T03:30:31Z cell owl:Class UBERON:0000006 biolink:NamedThing islet of Langerhans the clusters of hormone-producing cells that are scattered throughout the pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic insula|pancreatic islet|islets of Langerhans|island of pancreas|island of Langerhans owl:Class GO:2001171 biolink:NamedThing positive regulation of ATP biosynthetic process Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of ATP anabolism|positive regulation of ATP regeneration|positive regulation of ATP formation|positive regulation of ATP biosynthesis|positive regulation of ATP synthesis owl:Class GO:0006754 biolink:NamedThing ATP biosynthetic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. tmpak2llvmy_mondo_relaxed.owl ATP regeneration|ATP biosynthesis|ATP formation|ATP anabolism|ATP synthesis owl:Class MONDO:0011165 biolink:NamedThing glomerulopathy with fibronectin deposits 2 Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. tmpak2llvmy_mondo_relaxed.owl FN1 fibronectin glomerulopathy|GFND2|fibronectin glomerulopathy|fibronectin glomerulopathy caused by mutation in FN1|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with fibronectin deposits type 2|glomerulopathy with fibronectin deposits 2|glomerular nephritis familial with fibronectin deposits SCTID:722759007|OMIM:601894|GARD:0009914 owl:Class HGNC:3778 biolink:NamedThing FN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004161 biolink:NamedThing septum transversum A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. tmpak2llvmy_mondo_relaxed.owl transverse septum owl:Class HGNC:14906 biolink:NamedThing NIN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0056805 biolink:NamedThing benign peripheral nerve granular cell tumor A benign granular cell tumor that involves the nerve. tmpak2llvmy_mondo_relaxed.owl benign granular cell tumor of the peripheral nerve|benign granular cell tumor of nerve|benign granular cell neoplasm of peripheral nerve|nerve benign granular cell tumor|benign granular cell neoplasm of the peripheral nerve|benign granular cell tumor of peripheral nerve|benign peripheral nerve granular cell tumor|benign peripheral nerve granular cell neoplasm UMLS:C1332530|NCIT:C5502 owl:Class UBERON:0005305 biolink:NamedThing thyroid follicle Discrete, cystlike units of the thyroid gland that are lined with cuboidal epithelium and are filled with a colloid substance, about 30 to each lobule[BTO]. tmpak2llvmy_mondo_relaxed.owl thyroid gland follicle|thyroid follicles owl:Class MONDO:0006468 biolink:NamedThing thyroid gland undifferentiated (anaplastic) carcinoma A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. tmpak2llvmy_mondo_relaxed.owl sarcomatoid thyroid gland carcinoma|undifferentiated carcinoma of the thyroid|Dedifferentiated thyroid gland carcinoma|undifferentiated thyroid carcinoma|undifferentiated (anaplastic) thyroid gland carcinoma|undifferentiated carcinoma of thyroid|anaplastic thyroid gland carcinoma|THAP|undifferentiated thyroid gland carcinoma|thyroid carcinoma, anaplastic|undifferentiated carcinoma of thyroid gland|anaplastic carcinoma of the thyroid|thyroid gland undifferentiated (anaplastic) carcinoma|thyroid gland carcinosarcoma|pleomorphic thyroid gland carcinoma|metaplastic thyroid gland carcinoma|undifferentiated (anaplastic) thyroid gland cancer|anaplastic carcinoma of the thyroid gland|undifferentiated carcinoma of the thyroid gland|undifferentiated thyroid tumor|thyroid gland undifferentiated carcinoma|anaplastic thyroid carcinoma|thyroid cancer, anaplastic|anaplastic carcinoma of thyroid gland|anaplastic thyroid cancer|anaplastic carcinoma of thyroid SCTID:255031003|GARD:0000664|UMLS:C0238461|DOID:0080522|ONCOTREE:THAP|HP:0011779|MedDRA:10002240|NCIT:C3878|ICD10:C73|MESH:D065646|EFO:1000595|Orphanet:142 owl:Class MONDO:0012456 biolink:NamedThing congenital primary aphakia Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl congenital aphakia|ASGD2|anterior segment dysgenesis 2|congenital absence of lens|CPA|aphakia, congenital primary Orphanet:83461|GARD:0009952|DOID:11367|MESH:C537786|MedDRA:10002947|SCTID:35387008|NCIT:C35172|ICD9:743.35|ICD10:Q12.3|OMIM:610256 owl:Class HP:0007707 biolink:NamedThing Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. tmpak2llvmy_mondo_relaxed.owl Lens agenesis MSH:C537786|UMLS:C1853230 human_phenotype owl:Class MONDO:0012573 biolink:NamedThing vesicoureteral reflux 2 Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux type 2|ROBO2 vesicoureteral reflux (disease)|VUR2|vesicoureteral reflux (disease) caused by mutation in ROBO2|vesicoureteral reflux 2 UMLS:C1970483|MESH:C567053|OMIM:610878 owl:Class HGNC:10250 biolink:NamedThing ROBO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005769 biolink:NamedThing geniculate herpes zoster A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. tmpak2llvmy_mondo_relaxed.owl Herpes Zoster Oticus|herpetic geniculate ganglionitis|nervus intermedius neuralgia|Ramsay Hunt syndrome type II|geniculate neuralgia|Herpes zoster auricularis|Ramsay Hunt syndrome type 2|Ramsey Hunt syndrome DOID:9210|UMLS:C0017409|NCIT:C84763|ICD9:351.8|UMLS:C0458220|ICD9:053.11|ICD10:B02.21|EFO:0007281|SCTID:95670000 owl:Class HP:0003470 biolink:NamedThing Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. tmpak2llvmy_mondo_relaxed.owl Paralysis|Inability to move SNOMEDCT_US:44695005|UMLS:C0522224|MSH:D010243 human_phenotype owl:Class HGNC:11111 biolink:NamedThing SMC1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013663 biolink:NamedThing platelet-activating factor acetylhydrolase deficiency tmpak2llvmy_mondo_relaxed.owl platelet-activating factor acetylhydrolase deficiency (disease)|PAFAD|platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency (disease) MESH:C566640|OMIM:614278|HP:0040175|UMLS:C3280315 owl:Class HGNC:9040 biolink:NamedThing PLA2G7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010701 biolink:NamedThing positive regulation of norepinephrine secretion Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009676 biolink:NamedThing early telencephalic vesicle tmpak2llvmy_mondo_relaxed.owl early telencephalic ventricle|early telencephalic vesicle owl:Class UBERON:0005599 biolink:NamedThing common dorsal aorta tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000050 biolink:NamedThing urea cycle The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. tmpak2llvmy_mondo_relaxed.owl ornithine cycle|urea biosynthetic process|urea biosynthesis owl:Class MONDO:0013829 biolink:NamedThing UV-sensitive syndrome 2 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. tmpak2llvmy_mondo_relaxed.owl UV-sensitive syndrome type 2|ERCC8 UV-sensitive syndrome|UV-sensitive syndrome 2|UV-sensitive syndrome caused by mutation in ERCC8|UVSS2 UMLS:C3553298|OMIM:614621 owl:Class MONDO:0012728 biolink:NamedThing Brugada syndrome 2 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. tmpak2llvmy_mondo_relaxed.owl GPD1L Brugada syndrome|Brugada syndrome 2|Brugada syndrome type 2|Brugada syndrome caused by mutation in GPD1L|BRGDA2 OMIM:611777|UMLS:C2673193|DOID:0110219|MESH:C567087|ICD10:I49.8 owl:Class UBERON:0002512 biolink:NamedThing corpus luteum A transient endocrine gland that develops from the postovulatory or atretic follicles and secretes progesterone; it is thought to be related to egg retention[PMID]. tmpak2llvmy_mondo_relaxed.owl luteal gland|corpora lutea|ovarian corpus luteum|corpus luteum of ovary owl:Class UBERON:0001305 biolink:NamedThing ovarian follicle A spherical aggregation of cells in the ovary that contains a single oocyte[WP,modified]. tmpak2llvmy_mondo_relaxed.owl follicle of ovary viewed macroscopically|folliculi ovarici vesiculosi|ovary follicle|egg follicle|folliculi ovarici primarii|follicle of ovary owl:Class UBERON:0013756 biolink:NamedThing venous blood A blood that is part of a vein. tmpak2llvmy_mondo_relaxed.owl venous blood|portion of venous blood|blood in vein owl:Class MONDO:0011911 biolink:NamedThing craniolenticulosutural dysplasia Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. tmpak2llvmy_mondo_relaxed.owl Boyadjiev-Jabs syndrome|craniolenticulosutural dysplasia|cranio-lenticulo-sutural dysplasia, CLSD|CLSD ICD10:Q75.8|DOID:0070307|UMLS:C1843042|OMIM:607812|SCTID:725100001|MESH:C564332|Orphanet:50814 owl:Class HGNC:10701 biolink:NamedThing SEC23A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014111 biolink:NamedThing cataract 19 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene. tmpak2llvmy_mondo_relaxed.owl cataract 19, multiple types|cataract 19|LIM2 early-onset non-syndromic cataract|CTRCT19|early-onset non-syndromic cataract caused by mutation in LIM2|cataract type 19 DOID:0110263|UMLS:C3809004|ICD10:Q12.0|OMIM:615277 owl:Class UBERON:0016525 biolink:NamedThing frontal lobe Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. tmpak2llvmy_mondo_relaxed.owl regio frontalis|lobus frontalis|lobi frontales|frontal cortex|frontal region owl:Class UBERON:0034715 biolink:NamedThing pineal tract A cranial nerve fiber tract that innervates the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal nerve owl:Class UBERON:0034714 biolink:NamedThing epiphyseal tract A cranial nerve fiber tract that innervates the parietal eye. tmpak2llvmy_mondo_relaxed.owl epiphyseal nerve owl:Class GO:0032770 biolink:NamedThing positive regulation of monooxygenase activity Any process that activates or increases the activity of a monooxygenase. tmpak2llvmy_mondo_relaxed.owl up regulation of monooxygenase activity|activation of monooxygenase activity|stimulation of monooxygenase activity|upregulation of monooxygenase activity|up-regulation of monooxygenase activity owl:Class UBERON:0008826 biolink:NamedThing pulmonary surfactant a substance formed by type II alveolar cells composed of surface-active lipoprotein complex (phospholipoprotein). tmpak2llvmy_mondo_relaxed.owl type II pneumocyte secretion|lung surfactant|alveolar surfactant owl:Class CHEBI:6495 biolink:NamedThing lipoprotein A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids. tmpak2llvmy_mondo_relaxed.owl lipoproteins|Lipoprotein|lipoprotein particle owl:Class MONDO:0019878 biolink:NamedThing 3q26 microduplication syndrome 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. tmpak2llvmy_mondo_relaxed.owl trisomy 3q26|dup(3)(q26)|Cornelia de Lange-like syndrome|dup(3q) syndrome Orphanet:96095|ICD10:Q92.3|UMLS:CN206814 owl:Class FOODON:03411213 biolink:NamedThing nut producing plant tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011896 biolink:NamedThing Parkinson disease 11, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to autosomal dominant Parkinson disease 11|PARK11|hereditary late onset Parkinson disease caused by mutation in GIGYF2|Parkinson disease 11, autosomal dominant, susceptibility to|GIGYF2 hereditary late onset Parkinson disease OMIM:607688|UMLS:C1843211|MESH:C564345 owl:Class HGNC:11960 biolink:NamedThing GIGYF2 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002478 biolink:NamedThing transversely striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012432 biolink:NamedThing Joubert syndrome 5 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 5|JBTS5|Joubert syndrome 5|Joubert syndrome caused by mutation in CEP290|CEP290 Joubert syndrome MESH:C537688|UMLS:C1857780|DOID:0111000|OMIM:610188 owl:Class UBERON:0003855 biolink:NamedThing gonad mesenchyme Mesenchyme that is part of a developing gonad [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gonada mesenchyme|mesenchyme of gonad|mesenchyme of gonada owl:Class MONDO:0019254 biolink:NamedThing inborn disorder of purine or pyrimidine metabolism tmpak2llvmy_mondo_relaxed.owl disorder of purine or pyrimidine metabolism|inborn errors of purine-pyrimidine metabolism|purine-pyrimidine metabolic disorder|inborn purine-pyrimidine metabolic disorder Orphanet:79224|ICD10:E79.8|ICD9:277.2|DOID:653|ICD10:E79.1|UMLS:C0034139|ICD10:E79.9|MESH:D011686|ICD10:E79.0|MedDRA:10037546 owl:Class Nad044d0b97b24c0a829cbe668b7b76f6 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012547 biolink:NamedThing Noonan syndrome 4 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. tmpak2llvmy_mondo_relaxed.owl SOS1 gene related Noonan syndrome|Noonan syndrome type 4|Noonan syndrome caused by mutation in SOS1|Noonan syndrome 4|NS4|SOS1 Noonan syndrome UMLS:C1853120|GARD:0010699|MESH:C548082|DOID:0060582|OMIM:610733 https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 owl:Class HGNC:11187 biolink:NamedThing SOS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001296 biolink:NamedThing myometrium the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium tmpak2llvmy_mondo_relaxed.owl tunica muscularis (myometrium)|uterine myometrium|tunica muscularis|uterine smooth muscle owl:Class MONDO:0010607 biolink:NamedThing heterotaxy, visceral, 1, X-linked X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. tmpak2llvmy_mondo_relaxed.owl heterotaxy, visceral, 1, X-linked|congenital heart defects, multiple types, 1, X-linked|HTX1|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|X-linked visceral heterotaxy 1|heterotaxy, visceral, X-linked|dextrocardia with Other Cardiac malformations|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3|laterality, X-linked EFO:0009136|OMIM:306955|MESH:C538116|GARD:0008591|UMLS:C1844020 https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 owl:Class HGNC:12874 biolink:NamedThing ZIC3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002232 biolink:NamedThing leukocyte chemotaxis involved in inflammatory response The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. tmpak2llvmy_mondo_relaxed.owl leucocyte chemotaxis during inflammatory response|leukocyte chemotaxis during inflammatory response|immune cell chemotaxis during inflammatory response owl:Class CL:1001021 biolink:NamedThing kidney loop of Henle descending limb epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001053 cell owl:Class UBERON:0001289 biolink:NamedThing descending limb of loop of Henle the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure tmpak2llvmy_mondo_relaxed.owl descending limb of Henle's loop|descending limb|loop of Henle descending limb owl:Class MONDO:0001768 biolink:NamedThing stenosis of lacrimal passage tmpak2llvmy_mondo_relaxed.owl stenosis of lacrimal canaliculi SCTID:81345003|DOID:13654|ICD9:375.53|ICD10:H04.549|ICD10:H04.54 owl:Class MONDO:0007538 biolink:NamedThing amelogenesis imperfecta, type 3A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. tmpak2llvmy_mondo_relaxed.owl FAM83H amelogenesis imperfecta|AI3A|AI3|autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, hypocalcification type, autosomal dominant|amelogenesis imperfecta, type III|amelogenesis imperfecta hypomineralization type|amelogenesis imperfecta type 3|ADHCAI|amelogenesis imperfecta, type 3|amelogenesis imperfecta, type IIIA|amelogenesis imperfecta type 3A|amelogenesis imperfecta, type 3A|amelogenesis imperfecta type III|amelogenesis imperfecta, hypomineralization type|amelogenesis imperfecta caused by mutation in FAM83H MESH:C562880|SCTID:109471001|OMIM:130900|ICD10:K00.5|Orphanet:100032|DOID:0110055 owl:Class HGNC:24797 biolink:NamedThing FAM83H tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004912 biolink:NamedThing biliary bud tmpak2llvmy_mondo_relaxed.owl hepatic diverticulum owl:Class UBERON:0003687 biolink:NamedThing foramen magnum In anatomy, in the occipital bone, the foramen magnum is one of the several oval or circular apertures in the base of the skull, through which the medulla oblongata (an extension of the spinal cord) enters and exits the skull vault. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the Spinal Accessory nerve, vertebral arteries, the anterior and posterior spinal arteries, the membrana tectoria and alar ligaments. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001896 biolink:NamedThing medulla oblongata Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. tmpak2llvmy_mondo_relaxed.owl medulla oblonzata|medulla|bulbus|bulb|metepencephalon owl:Class MONDO:0019224 biolink:NamedThing inborn disorder of gamma-aminobutyric acid metabolism An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of gamma-aminobutyric acid metabolic process|inborn gamma-aminobutyric acid metabolic process disorder|disorder of gamma-aminobutyric acid metabolism|inborn error of gamma-aminobutyric acid metabolic process|disorder of GABA metabolism ICD10:E72.8|Orphanet:79175|UMLS:CN227591 owl:Class GO:0009448 biolink:NamedThing gamma-aminobutyric acid metabolic process The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpak2llvmy_mondo_relaxed.owl 4-aminobutanoate metabolism|4-aminobutanoate metabolic process|gamma-aminobutyric acid metabolism|4-aminobutyrate metabolism|GABA metabolism|GABA metabolic process|4-aminobutyrate metabolic process owl:Class MONDO:0007751 biolink:NamedThing hypercholesterolemia, autosomal dominant, type B tmpak2llvmy_mondo_relaxed.owl apolipoprotein B-100, familial defective|hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective OMIM:144010|SCTID:238081000 owl:Class HGNC:603 biolink:NamedThing APOB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005902 biolink:NamedThing occipital region Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occipital condyles. tmpak2llvmy_mondo_relaxed.owl basicranial region|back of head|occipital region of head|occipital part of head owl:Class UBERON:0003128 biolink:NamedThing cranium Upper portion of the skull that excludes the mandible (when present in the organism). tmpak2llvmy_mondo_relaxed.owl ossa cranii|bones of cranium|set of bones of cranium|skeletal system of head|upper part of skull|epicranial plate|skull minus mandible|calvarium owl:Class MONDO:0013520 biolink:NamedThing dyskeratosis congenita, autosomal recessive 3 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. tmpak2llvmy_mondo_relaxed.owl DKCB3|autosomal recessive dyskeratosis congenita 3|dyskeratosis congenita, autosomal recessive 3|dyskeratosis congenita, autosomal recessive type 3 OMIM:613988|DOID:0070019|UMLS:C3151442 owl:Class HGNC:25522 biolink:NamedThing WRAP53 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011825 biolink:NamedThing loose connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. tmpak2llvmy_mondo_relaxed.owl textus connectivus collagenosus laxus|textus connectivus laxus owl:Class UBERON:0001601 biolink:NamedThing extra-ocular muscle Skeletal muscle derived from cranial mesoderm and controls eye movements. tmpak2llvmy_mondo_relaxed.owl extrinsic muscle of eyeball|extraocular musculature|extrinsic ocular muscle|extrinsic eye muscle|musculi externi bulbi oculi|extraocular skeletal muscle|extra-ocular skeletal muscle|extraocular muscle owl:Class UBERON:0006230 biolink:NamedThing extrinsic ocular pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class ExO:0000001 biolink:NamedThing exposure receptor tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001201 biolink:NamedThing marine environmental zone An environmental zone which is bounded by material parts of a marine environment. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000320 biolink:NamedThing marine environment A marine environment and enviroment which is determined by a marine water body. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3052 biolink:NamedThing DSP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003405 biolink:NamedThing lobar bronchus of left lung A lobar bronchus that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left lobar bronchus|secondary bronchus of left lung|left lung lobar bronchus|left lung secondary bronchus owl:Class CHEBI:15377 biolink:NamedThing water An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms. tmpak2llvmy_mondo_relaxed.owl agua|Water|dihydrogen oxide|dihydridooxygen|[OH2]|BOUND WATER|oxidane|Wasser|aqua|acqua|H2O|eau|water|hydrogen hydroxide|HOH|WATER owl:Class CHEBI:29412 biolink:NamedThing oxonium tmpak2llvmy_mondo_relaxed.owl H3O(+)|oxonium|trihydridooxygen(1+)|Hydronium ion|Hydronium cation|oxidanium|aquahydrogen(1+)|[OH3](+) owl:Class MONDO:0100037 biolink:NamedThing juvenile onset pityriasis rubra pilaris A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life. tmpak2llvmy_mondo_relaxed.owl juvenile onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class UBERON:0001500 biolink:NamedThing muscle of manus Any muscle organ that is part of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl manus muscle organ|muscle of hand|hand muscle|muscle organ of manus|manus muscle owl:Class UBERON:0010718 biolink:NamedThing pubic cartilage element A pubic endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl pubic cartilage condensation owl:Class HGNC:1402 biolink:NamedThing CACNB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013576 biolink:NamedThing recurrent infections associated with rare immunoglobulin isotypes deficiency Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. tmpak2llvmy_mondo_relaxed.owl IGKCD|isolated IgG subclass deficiency|IMMUNOGLOBULIN kappa LIGHT chain deficiency|IgG subclass deficiency with IgA subclass deficiency|kappa chain deficiency|kappa-chain deficiency|recurrent infections associated with rare immunoglobulin isotypes deficiency|selective IgG subclass deficiency OMIM:614102|UMLS:C3279824|Orphanet:183675|MESH:C564131 owl:Class HGNC:5716 biolink:NamedThing IGKC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005064 biolink:NamedThing left ventricular trabecular myocardium . tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003572 biolink:NamedThing chest connective tissue A portion of connective tissue that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of front of thorax|front of thorax connective tissue|textus connectivus of anterior thoracic region|connective tissue of anterolateral part of thorax|textus connectivus of anterolateral part of thorax|chest portion of connective tissue|anterior thoracic region connective tissue|portion of connective tissue of front of thorax|anterolateral part of thorax portion of connective tissue|textus connectivus of front of thorax|connective tissue of anterior thoracic region|front of thorax portion of connective tissue|portion of connective tissue of chest|anterolateral part of thorax connective tissue|connective tissue of chest|textus connectivus of chest|portion of connective tissue of anterior thoracic region|front of thorax textus connectivus|anterolateral part of thorax textus connectivus|portion of connective tissue of anterolateral part of thorax|anterior thoracic region portion of connective tissue|anterior thoracic region textus connectivus|chest textus connectivus owl:Class UBERON:0001443 biolink:NamedThing chest Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. tmpak2llvmy_mondo_relaxed.owl thoracic body wall|front of thorax|pectus|ventral part of thoracic region|anterolateral part of thorax|thorax owl:Class N2546a16cee7040b4a2e0e655e118ac07 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009518 biolink:NamedThing leprosy, susceptibility to, 3 Any leprosy in which the cause of the disease is a mutation in the TLR2 gene. tmpak2llvmy_mondo_relaxed.owl leprosy caused by mutation in TLR2|leprosy, susceptibility to, type 3|susceptibility to leprosy 3|leprosy, susceptibility to, 3|LPRS3|TLR2 leprosy OMIM:246300 owl:Class MONDO:0005124 biolink:NamedThing leprosy Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl Hansen's disease|Hansen disease|Mycobacterium leprae disease or disorder|Mycobacterium leprae caused disease or disorder|Mycobacterium leprae infectious disease ICD9:030.9|ICD9:030.8|Orphanet:548|ICD10:A30.1|ICD10:A30|ICD10:A30.0|GARD:0006886|ICD10:A30.4|EFO:0001054|MedDRA:10024229|ICD10:A30.8|MESH:D007918|ICD10:A30.3|ICD9:030|ICD10:A30.2|SCTID:81004002|UMLS:C0023343|DOID:1024|ICD10:A30.9|ICD10:A30.5|NCIT:C84824 owl:Class MONDO:0020176 biolink:NamedThing palpebral sebaceous gland tumor A neoplasm (disease) that involves the sebaceous gland of eyelid. tmpak2llvmy_mondo_relaxed.owl neoplasm of sebaceous gland of eyelid|tumor of sebaceous gland of eyelid|sebaceous gland of eyelid tumor|sebaceous gland of eyelid neoplasm (disease)|sebaceous gland of eyelid neoplasm Orphanet:98585|UMLS:CN207036 owl:Class MONDO:0009301 biolink:NamedThing 46,XY sex reversal 7 tmpak2llvmy_mondo_relaxed.owl 46,XY gonadal dysgenesis, partial or complete, Dhh-related|SRXY7|46,XY Sex reversal, partial or complete, Dhh-related|46,XY sex reversal 7|46,XY Sex reversal type 7|46,XY SEX reversal 7|gonadal dysgenesis, XY, Male-limited OMIM:233420|MESH:C565537|DOID:0111774 owl:Class MONDO:0009490 biolink:NamedThing Papillon-Lefevre disease Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. tmpak2llvmy_mondo_relaxed.owl hyperkeratosis palmoplantaris with periodontosis|Papillon-LEFèvre syndrome|Papillon Lefevre syndrome|Keratoris palmoplantaris with periodontopathia|palmoplantar keratoderma with periodontosis|PAPILLON-Lefevre syndrome|keratosis palmoplantar-periodontopathy syndrome|Papillon-Lefvre syndrome|palmar-plantar hyperkeratosis and concomitant periodontal destruction|keratosis palmoplantaris with periodontopathia|Pls|keratosis palmoplantar - periodontopathy|PLS|PALS UMLS:C0030360|GARD:0003100|DOID:3389|Orphanet:678|ICD10:Q82.8|NCIT:C84992|OMIM:245000|ICD9:759.89|MESH:D010214|SCTID:40158001 owl:Class HGNC:2528 biolink:NamedThing CTSC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010828 biolink:NamedThing retinitis pigmentosa 11 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene. tmpak2llvmy_mondo_relaxed.owl PRPF31 retinitis pigmentosa|retinitis pigmentosa type 11|RP11|retinitis pigmentosa 11|RP 11|retinitis pigmentosa caused by mutation in PRPF31 OMIM:600138|MESH:C563991|GARD:0010383|ICD10:H35.5|UMLS:C1838601|DOID:0110408 https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11 owl:Class HGNC:15446 biolink:NamedThing PRPF31 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010164 biolink:NamedThing collection of hairs An anatomical cluster that composed_primarily_of a strand of hair. tmpak2llvmy_mondo_relaxed.owl pili|hairs set|set of hairs|hairs owl:Class PATO:0010001 biolink:NamedThing disconnected A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001973 biolink:NamedThing Brucella abortus brucellosis A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. tmpak2llvmy_mondo_relaxed.owl ICD9:023.1|SCTID:427795000|DOID:14457|ICD10:A23.1 owl:Class MONDO:0002369 biolink:NamedThing cystadenoma A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. tmpak2llvmy_mondo_relaxed.owl cystadenoma|cystadenoma (morphologic abnormality)|cystoma|cystadenoma, benign NCIT:C2972|MESH:D003537|ICDO:8440/0|DOID:2634|UMLS:C0010633 owl:Class UBERON:0005711 biolink:NamedThing foregut duodenum mesentery A mesentery of duodenum that is part of a foregut. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0023057 biolink:NamedThing negative regulation of signaling Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. tmpak2llvmy_mondo_relaxed.owl negative regulation of signaling process|negative regulation of signalling process owl:Class GO:0023052 biolink:NamedThing signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. tmpak2llvmy_mondo_relaxed.owl signalling process|signalling|biological signaling|single organism signaling|signaling process owl:Class MONDO:0003787 biolink:NamedThing childhood testicular mixed germ cell cancer A malignant mixed germ cell neoplasm that arises from the testis during childhood. tmpak2llvmy_mondo_relaxed.owl childhood testicular mixed germ cell tumor|childhood mixed testicular germ cell cancer|pediatric testicular mixed germ cell neoplasm|mixed testicular germ cell cancer of childhood|pediatric mixed testicular germ cell cancer|childhood testicular mixed germ cell neoplasm|pediatric testicular mixed germ cell tumor DOID:6161|NCIT:C6542|UMLS:C1333009 owl:Class MONDO:0010160 biolink:NamedThing tyrosinemia type II Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Tyrosinosis, oculocutaneous type|oculocutaneous tyrosinemia|tyrosinemia, type 2|keratosis palmoplantaris with corneal dystrophy|tyrosinemia type 2|tyrosinemia, type II|Tyrosinosis oculocutaneous type|tyrosine transaminase deficiency|tyrosinemia due to tyrosine aminotransferase deficiency|tyrosinemia due to TAT deficiency|Richner-Hanhart syndrome|tyrosinemia type II|Oregon type tyrosinemia|Richner Hanhart syndrome|tyrosine aminotransferase deficiency|TYRSN2|keratosis palmoplantaris-corneal dystrophy syndrome|Tat deficiency ICD10:E70.2|OMIM:276600|Orphanet:28378|MedDRA:10069463|NCIT:C129032|DOID:0050725|SCTID:4887000|GARD:0003105 https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 owl:Class HP:0003231 biolink:NamedThing Hypertyrosinemia An increased concentration of tyrosine in the blood. tmpak2llvmy_mondo_relaxed.owl Increased tyrosine in blood|Tyrosinemia UMLS:C1879362|SNOMEDCT_US:56595005 Defect in fumarylacetoacetase. human_phenotype owl:Class UBERON:0003564 biolink:NamedThing diencephalon dura mater A dura mater that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl diencephalon dura mater of neuraxis|interbrain dura mater|mature diencephalon dura mater of neuraxis|dura mater of neuraxis of interbrain|mature diencephalon dura mater|dura mater of mature diencephalon|dura mater of neuraxis of mature diencephalon|interbrain dura mater of neuraxis|dura mater of diencephalon|between brain dura mater|dura mater of neuraxis of between brain|between brain dura mater of neuraxis|dura mater of between brain|dura mater of interbrain|dura mater of neuraxis of diencephalon owl:Class MONDO:0015015 biolink:NamedThing congenital bile acid synthesis defect 6 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. tmpak2llvmy_mondo_relaxed.owl CBAS6|congenital bile acid synthesis defect caused by mutation in ACOX2|bile acid synthesis defect, congenital, type 6|bile acid synthesis defect, congenital, 6|ACOX2 congenital bile acid synthesis defect|congenital bile acid synthesis defect type 6 OMIM:617308|DOID:0111067|UMLS:C4310624 owl:Class HGNC:120 biolink:NamedThing ACOX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020854 biolink:NamedThing Liddle syndrome 2 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. tmpak2llvmy_mondo_relaxed.owl Liddle syndrome 2|SCNN1G Liddle syndrome|Liddle syndrome caused by mutation in SCNN1G|LIDLS2 OMIM:618114 owl:Class CHEBI:16199 biolink:NamedThing urea A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). tmpak2llvmy_mondo_relaxed.owl carbonyldiamide|E927b|Urea|urea|1728|carbamide|UREA|Harnstoff|Karbamid|ur|H2NC(O)NH2|Carbamide|uree owl:Class CHEBI:64577 biolink:NamedThing flour treatment agent A food additive which is added to flour or dough to improve baking quality and/or colour. tmpak2llvmy_mondo_relaxed.owl flour treatment agent|improving agents|dough improver|dough improvers|improving agent owl:Class MONDO:0013384 biolink:NamedThing Hirschsprung disease, susceptibility to, 4 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene. tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, 4|HSCR4|Hirschsprung disease, susceptibility to, type 4|susceptibility to Hirschsprung disease 4|EDN3 Hirschsprung disease OMIM:613712 owl:Class HGNC:3178 biolink:NamedThing EDN3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011143 biolink:NamedThing upper urinary tract Subdivision of urinary system which consists of the kidney and the ureters. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002061 biolink:NamedThing truncus arteriosus The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014025 biolink:NamedThing lower motor neuron syndrome with late-adult onset tmpak2llvmy_mondo_relaxed.owl SMAJ|spinal muscular atrophy, Jokela type Orphanet:276435|OMIM:615048|UMLS:C3554398|ICD10:G12.1 owl:Class HGNC:15559 biolink:NamedThing CHCHD10 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030017 biolink:NamedThing sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000132 biolink:NamedThing 38-year-old human stage Adult stage that refers to an adult who is over 38 and under 39. tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000131 biolink:NamedThing 37-year-old human stage Adult stage that refers to an adult who is over 37 and under 38. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013263 biolink:NamedThing retinitis pigmentosa 54 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 54|retinitis pigmentosa 54|retinitis pigmentosa caused by mutation in PCARE|RP54|PCARE retinitis pigmentosa OMIM:613428|UMLS:C3150691|ICD10:H35.5|DOID:0110364 owl:Class HGNC:34383 biolink:NamedThing PCARE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001494 biolink:NamedThing ulnar nerve A nerve which runs near the ulna bone. tmpak2llvmy_mondo_relaxed.owl nervus ulnaris owl:Class GO:0023019 biolink:NamedThing signal transduction involved in regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. tmpak2llvmy_mondo_relaxed.owl regulation of gene expression as a consequence of signal transmission owl:Class MONDO:0014750 biolink:NamedThing primary ciliary dyskinesia 33 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia 33 without situs inversus|ciliary dyskinesia, primary, 33|primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 33|ciliary dyskinesia, primary, 33, without situs inversus|primary ciliary dyskinesia caused by mutation in GAS8|CILD33 OMIM:616726|DOID:0110619|UMLS:C4225230|ICD10:Q34.8 owl:Class HGNC:4166 biolink:NamedThing GAS8 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012141 biolink:NamedThing manual digitopodium region A digitopodium region that is part of a manus[Obol]. This includes the fingers and metacarpal region, but excludes the carpal region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014292 biolink:NamedThing leukoencephalopathy with mild cerebellar ataxia and white matter edema tmpak2llvmy_mondo_relaxed.owl LKPAT|leukoencephalopathy with ataxia UMLS:C3810242|NCIT:C171603|OMIM:615651|SCTID:768663003|ICD10:E75.2|Orphanet:363540 owl:Class GO:1903429 biolink:NamedThing regulation of cell maturation Any process that modulates the frequency, rate or extent of cell maturation. tmpak2llvmy_mondo_relaxed.owl regulation of functional differentiation owl:Class GO:0048469 biolink:NamedThing cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. tmpak2llvmy_mondo_relaxed.owl functional differentiation owl:Class UBERON:0001509 biolink:NamedThing triceps brachii The triceps brachii muscle (Latin for 'three-headed' muscle of the arm, it is called a three headed muscle because there are three bundles of muscle, each of different origin, joining together at the elbow) is the large muscle on the back of the human upper limb. It is the muscle principally responsible for extension of the elbow joint (i.e. straightening of the arm). Though a similarly-named muscle, the triceps surae, is found on the lower leg, the triceps brachii is commonly called simply the 'triceps'. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl triceps muscle|triceps brachii muscle|triceps|musculus triceps brachii owl:Class MONDO:0014953 biolink:NamedThing gnb5-related intellectual disability-cardiac arrhythmia syndrome tmpak2llvmy_mondo_relaxed.owl IDDCA|intellectual developmental disorder with cardiac arrhythmia; IDDCA|intellectual developmental disorder with cardiac arrhythmia OMIM:617173|Orphanet:542306|UMLS:C4310682 owl:Class HGNC:4401 biolink:NamedThing GNB5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0056816 biolink:NamedThing vulvar neuroendocrine carcinoma A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. tmpak2llvmy_mondo_relaxed.owl mammalian vulva neuroendocrine carcinoma|vulvar high grade Neuroendocrine carcinoma|vulvar high grade Neuroendocrine neoplasm|neuroendocrine carcinoma of mammalian vulva|vulvar Neuroendocrine carcinoma|vulvar Neuroendocrine cancer UMLS:C4288002|NCIT:C128243 owl:Class UBERON:0015021 biolink:NamedThing forelimb endochondral element A forelimb bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl forelimb skeletal element owl:Class UBERON:0008229 biolink:NamedThing craniocervical region musculature Musculature system of the pharyngeal and head regions. tmpak2llvmy_mondo_relaxed.owl head muscles|head or neck muscle owl:Class MONDO:0011570 biolink:NamedThing Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|Charcot-Marie-Tooth neuropathy type 2B2|CMT 2B2|autosomal recessive axonal CMT4C3|Arcmt2B|ARCMT2B|Charcot-Marie-Tooth neuropathy, type 2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot-Marie-Tooth disease type 2B2|CMT2B2|MED25 Charcot-Marie-Tooth disease type 2|AR-CMT2B2|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot Marie Tooth disease type 2B2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease neuronal type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2 UMLS:C1854150|ICD10:G60.0|Orphanet:101101|DOID:0110179|SCTID:719981005|MESH:C537991|OMIM:605589|GARD:0001249 https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 owl:Class HGNC:28845 biolink:NamedThing MED25 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000855 biolink:NamedThing Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. tmpak2llvmy_mondo_relaxed.owl Body fails to respond to insulin SNOMEDCT_US:48606007|MSH:D007333|UMLS:C0021655 human_phenotype owl:Class MONDO:0013528 biolink:NamedThing intellectual disability, autosomal recessive 14 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive type 14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|TECR autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 14|intellectual disability, autosomal recessive 14|MRT14|mental retardation, autosomal recessive 14 UMLS:C3151462|OMIM:614020 owl:Class HGNC:4551 biolink:NamedThing TECR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000283 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type tmpak2llvmy_mondo_relaxed.owl Korean hemorrhagic fever DOID:0050200 owl:Class MONDO:0042370 biolink:NamedThing Yersinia enterocolitica infectious disease tmpak2llvmy_mondo_relaxed.owl infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica SCTID:80960004 owl:Class NCBITaxon:630 biolink:NamedThing Yersinia enterocolitica tmpak2llvmy_mondo_relaxed.owl Bacterium enterocoliticum GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004703 biolink:NamedThing bladder carcinoma in situ Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpak2llvmy_mondo_relaxed.owl stage 0is bladder urothelial carcinoma|bladder flat CIS|stage 0is bladder urothelial cancer|stage 0is bladder urothelial carcinoma aJCC v6|urinary bladder flat carcinoma in situ|stage 0is bladder urothelial carcinoma aJCC v6 and v7|stage 0is bladder cancer|urinary bladder carcinoma in situ|stage 0is bladder urothelial carcinoma aJCC v7|stage 0is carcinoma of urinary bladder|urinary bladder in situ carcinoma|flat CIS of the bladder|flat carcinoma in situ of the bladder|stage 0is carcinoma of the urinary bladder|flat CIS of the urinary bladder|bladder flat carcinoma in situ|cancer in situ of urinary bladder|carcinoma in situ of bladder|stage 0is urinary bladder carcinoma|stage 0is carcinoma of bladder|stage 0is carcinoma of the bladder|flat carcinoma in situ of the urinary bladder|stage 0 urinary bladder carcinoma|carcinoma in situ of the urinary bladder|high grade bladder Intraurothelial neoplasia|bladder Ca in situ|carcinoma in situ of urinary bladder|urinary bladder flat CIS|stage 0is bladder carcinoma SCTID:92546004|ICD10:D09.0|ICD9:233.7|NCIT:C3644|UMLS:C0154091|DOID:9053 owl:Class MONDO:0021553 biolink:NamedThing transverse myelitis tmpak2llvmy_mondo_relaxed.owl transverse myelitis|Transverse Myelopathy Syndromes|Transverse Myelopathy Syndrome|Transverse Myelitis|Transverse myelopathy syndrome|transverse myelopathy syndrome|Transverse myelitis|Myelitis, Transverse ICD9:323.9|SCTID:16631009|GARD:0007796|UMLS:C0026976 owl:Class MONDO:0013261 biolink:NamedThing dilated cardiomyopathy 1R Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpak2llvmy_mondo_relaxed.owl ACTC1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in ACTC1|left ventricular noncompaction 4|dilated cardiomyopathy type 1R|CMD1R|cardiomyopathy, dilated, 1R|cardiomyopathy, dilated, type 1R OMIM:613424|DOID:0110456|ICD10:I42.0 owl:Class HGNC:143 biolink:NamedThing ACTC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009796 biolink:NamedThing ornithine aminotransferase deficiency Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract. tmpak2llvmy_mondo_relaxed.owl hoga|gyrate atrophy of choroid and retina|hyperornithinemia|Fuchs gyrate atrophy of the choroid and retina|ornithine aminotransferase deficiency|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|Ornithinemia with gyrate atrophy|Fuchs atrophia gyrata chorioideae et retinae|GACR|gyrate atrophy of the choroid and/or retina|ornithine Keto acid aminotransferase deficiency|hyperornithinemia with gyrate atrophy of choroid and retina|ornithine-Delta-aminotransferase deficiency|OAT deficiency|gyrate atrophy of the retina|OKT deficiency|ornithine ketoacid aminotransferase deficiency|Oat deficiency|Ornithinemia|Girate atrophy of the retina|Fuchs gyrate atrophy|gyrate atrophy|Okt deficiency GARD:0007272|MESH:D015799|ICD10:E72.4|MESH:C538071|GARD:0006556|NCIT:C84744|Orphanet:414|UMLS:C0018425|DOID:1415|OMIM:258870 https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina owl:Class HGNC:8091 biolink:NamedThing OAT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009916 biolink:NamedThing wall of ureter An anatomical wall that is part of a ureter. tmpak2llvmy_mondo_relaxed.owl ureteral wall owl:Class UBERON:0007220 biolink:NamedThing late embryonic stage An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. tmpak2llvmy_mondo_relaxed.owl embryo late stage|fetus|fetus stage|fetal stage|embryo late growth stage|embryo late (growth) stage owl:Class UBERON:0002373 biolink:NamedThing palatine tonsil tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]. tmpak2llvmy_mondo_relaxed.owl tonsil|faucial tonsil|tonsilla palatina owl:Class MONDO:0022742 biolink:NamedThing occupational asthma Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. tmpak2llvmy_mondo_relaxed.owl Asthmas, Occupational|Industrial asthma|occupational asthma|Occupational Asthmas|Occupational asthma|Occupational Asthma|Asthma, Occupational|industrial asthma SCTID:57607007|MESH:D059366|UMLS:C0264423 owl:Class ECTO:0001591 biolink:NamedThing exposure to occupation An exposure event involving Occupation tmpak2llvmy_mondo_relaxed.owl Occupation exposure owl:Class MONDO:0024306 biolink:NamedThing acquired lactic acidosis An instance of lactic acidosis that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl lactic acidosis|acquired lactic acidosis DOID:3650|ICD10:E87.2|EFO:1000036|UMLS_CUI:C0001125 owl:Class CL:0000737 biolink:NamedThing striated muscle cell Muscle cell which has as its direct parts myofilaments organized into sarcomeres. tmpak2llvmy_mondo_relaxed.owl BTO:0002916|CALOHA:TS-2157|FMA:86936 cell owl:Class PATO:0001410 biolink:NamedThing striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007272 biolink:NamedThing pectoral appendage skeleton Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle. tmpak2llvmy_mondo_relaxed.owl cheiropterygium owl:Class UBERON:0006919 biolink:NamedThing tongue squamous epithelium A squamous epithelium that is part of a tongue. tmpak2llvmy_mondo_relaxed.owl squamous epithelium of tongue owl:Class UBERON:0009713 biolink:NamedThing endocardium of left ventricle Any endocardium that is part of the left ventricle of the heart. tmpak2llvmy_mondo_relaxed.owl left ventricle endocardial tissue|endocardial lining of left ventricle|left ventricle endocardium|left ventricular endocardium owl:Class UBERON:0003072 biolink:NamedThing optic cup Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. tmpak2llvmy_mondo_relaxed.owl eye cup|ocular cup|eyecup|ophtalmic cup owl:Class MONDO:0010170 biolink:NamedThing Usher syndrome type 3A Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, type 3|Usher syndrome, type 3A|Usher syndrome type 3A|USH3A|Usher syndrome caused by mutation in CLRN1|CLRN1 Usher syndrome|USHER syndrome, type IIIA|Usher syndrome type IIIA DOID:0110841|OMIM:276902|ICD10:H35.5 owl:Class MONDO:0021159 biolink:NamedThing gonococcal salpingitis An salpingitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae salpingitis|Neisseria gonorrhoeae caused salpingitis UMLS:C0341811|SCTID:237038001 owl:Class GO:0050871 biolink:NamedThing positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation. tmpak2llvmy_mondo_relaxed.owl activation of B cell activation|stimulation of B cell activation|upregulation of B cell activation|up regulation of B cell activation|up-regulation of B cell activation|positive regulation of B-lymphocyte activation|positive regulation of B-cell activation|positive regulation of B lymphocyte activation owl:Class GO:0004509 biolink:NamedThing steroid 21-monooxygenase activity Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O. tmpak2llvmy_mondo_relaxed.owl 21-hydroxylase activity|steroid 21-hydroxylase activity|cytochrome p450 XXIA1 activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|cytochrome P450 CYP21A1 owl:Class MONDO:0013638 biolink:NamedThing Warburg micro syndrome 3 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. tmpak2llvmy_mondo_relaxed.owl Warburg micro syndrome 3|micro syndrome 3|WARBURG micro syndrome 3|Warburg micro syndrome type 3|WARBM3|RAB18 Warburg micro syndrome|Warburg micro syndrome caused by mutation in RAB18 ICD10:Q87.0|DOID:0110718|OMIM:614222|UMLS:C3280203 owl:Class HGNC:14244 biolink:NamedThing RAB18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022413 biolink:NamedThing Albright-like syndrome tmpak2llvmy_mondo_relaxed.owl Albright like syndrome GARD:0000596 https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome owl:Class MONDO:0008274 biolink:NamedThing polyostotic fibrous dysplasia Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. tmpak2llvmy_mondo_relaxed.owl fibrous dysplasia of bone|polyostotic fibrous dysplasia of bone MedDRA:10036120|NCIT:C34610|ICD9:756.54|SCTID:36517007|MESH:D005359|Orphanet:93276|ICD10:Q78.1 owl:Class PATO:0001656 biolink:NamedThing decreased osmolarity A osmolarity which is relatively low. tmpak2llvmy_mondo_relaxed.owl low osmolarity owl:Class GO:0002438 biolink:NamedThing acute inflammatory response to antigenic stimulus An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042451 biolink:NamedThing endomyometritis An inflammation of the endometrium and the myometrium. tmpak2llvmy_mondo_relaxed.owl endomyometritis SCTID:88027004 owl:Class CL:0002431 biolink:NamedThing CD4-positive, CD8-intermediate double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. tmpak2llvmy_mondo_relaxed.owl T.4int8+.th tmeehan 2010-10-21T02:29:23Z cell owl:Class MONDO:0014642 biolink:NamedThing candidiasis, familial, 9 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. tmpak2llvmy_mondo_relaxed.owl candidiasis, familial, type 9|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|CANDF9|IL17RC chronic mucocutaneous candidiasis (disease)|candidiasis, familial, 9 UMLS:C4225324|OMIM:616445 owl:Class HGNC:18358 biolink:NamedThing IL17RC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007026 biolink:NamedThing presumptive gut tmpak2llvmy_mondo_relaxed.owl primordial gut|future digestive tube|embryonic digestive tube|primitive gut|future digestive tract|primordial digestive tube|future gut owl:Class ECTO:9000409 biolink:NamedThing exposure to salt An exposure to salt. tmpak2llvmy_mondo_relaxed.owl exposure to salt owl:Class CHEBI:24866 biolink:NamedThing salt A salt is an assembly of cations and anions. tmpak2llvmy_mondo_relaxed.owl salt|Salze|Salz|ionic compounds|sel|salts|sal|sels|ionic compound|sales owl:Class GO:0060467 biolink:NamedThing negative regulation of fertilization Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017962 biolink:NamedThing 46,XX disorder of sex development induced by fetoplacental androgens excess tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by fetoplacental androgens excess Orphanet:325061|UMLS:CN227226 owl:Class MONDO:0001869 biolink:NamedThing paraurethral gland cancer A malignant neoplasm involving the paraurethral gland. tmpak2llvmy_mondo_relaxed.owl paraurethral gland cancer|malignant tumor of the paraurethral gland|malignant neoplasm of paraurethral gland|cancer of paraurethral gland|malignant paraurethral gland neoplasm|malignant tumor of paraurethral gland ICD9:189.4|ICD10:C68.1|SCTID:363460002|DOID:14059|UMLS:C0153621 owl:Class CL:0000104 biolink:NamedThing multipolar neuron Neuron with an axon and two or more dendrites. tmpak2llvmy_mondo_relaxed.owl FMA:67287 cell owl:Class PATO:0070026 biolink:NamedThing multipolar neuron morphology A cell morphology that inheres in neurons which possess a single axon and many dendrites and dendritic branches. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043277 biolink:NamedThing mosaic trisomy 6 Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). tmpak2llvmy_mondo_relaxed.owl trisomy 6|trisomy 6 mosaicism GARD:0007815|NCIT:C36475|SCTID:205647005 Editor notes: TODO DPs for partial/complete/mosaic owl:Class MONDO:0045012 biolink:NamedThing steroid metabolism disease A disease that has its basis in the disruption of steroid metabolic process. tmpak2llvmy_mondo_relaxed.owl steroid metabolism disease|disorder of steroid metabolic process|steroid metabolic process disease|disorder of steroid metabolism SCTID:28710006|UMLS:C0268283 owl:Class UBERON:0005456 biolink:NamedThing jugular foramen The jugular foramen is a large aperture in the base of the skull. It is located behind the carotid canal and is formed in front by the petrous portion of the temporal, and behind by the occipital; it is generally larger on the right than on the left side tmpak2llvmy_mondo_relaxed.owl foramen jugulare|Posterior lacerate foramen owl:Class MONDO:0003534 biolink:NamedThing papillary thymic adenocarcinoma A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis. tmpak2llvmy_mondo_relaxed.owl Thymus papillary carcinoma|thymic papillary adenocarcinoma|thymic papillary carcinoma|papillary carcinoma of the Thymus|papillary carcinoma of Thymus|thymus papillary adenocarcinoma NCIT:C27937|UMLS:C1335327|DOID:5595 owl:Class MONDO:0013658 biolink:NamedThing intellectual disability, autosomal dominant 11 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene. tmpak2llvmy_mondo_relaxed.owl EPB41L1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 11|mental retardation, autosomal dominant 11|autosomal dominant non-syndromic intellectual disability 11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|intellectual disability, autosomal dominant type 11|mental retardation, autosomal dominant type 11|autosomal dominant intellectual disability 11|MRD11|intellectual disability, autosomal dominant 11 UMLS:C3280285|OMIM:614257|DOID:0070041 owl:Class HGNC:3378 biolink:NamedThing EPB41L1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9386 biolink:NamedThing PRKAG2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043484 biolink:NamedThing regulation of RNA splicing Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003716 biolink:NamedThing renal pelvis papillary urothelial carcinoma A papillary transitional cell carcinoma that arises from the renal pelvis. tmpak2llvmy_mondo_relaxed.owl renal pelvis papillary urothelial carcinoma|papillary carcinoma of the kidney pelvis|kidney pelvis papillary carcinoma|papillary carcinoma of renal pelvis|papillary carcinoma of kidney pelvis|renal pelvis papillary carcinoma|papillary carcinoma of the renal pelvis DOID:5973|UMLS:C1377909|NCIT:C6148 owl:Class UBERON:0015082 biolink:NamedThing proximal tarsal cartilage A proximal tarsal endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001422 biolink:NamedThing primary aldosteronism An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. tmpak2llvmy_mondo_relaxed.owl primary aldosteronism|Conn's syndrome|Conn syndrome|primary hyperaldosteronism SCTID:190507007|ICD10:E26.0|ICD10:E26.01|ICD9:255.12|DOID:12028|NCIT:C34510 Editor note: DOID class refers to adenoma-caused Conn syndrome owl:Class GO:0035932 biolink:NamedThing aldosterone secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011565 biolink:NamedThing lumen of gastrointestinal system tmpak2llvmy_mondo_relaxed.owl lumen of gastrointestinal tract|cavity of digestive tract|cavity of gastrointestinal tract|gastrointestinal tract lumen owl:Class MONDO:0001042 biolink:NamedThing patellar tendinitis A tendinitis that involves the patella. tmpak2llvmy_mondo_relaxed.owl tendinitis of patella|patellar tendonitis|patella tendinitis ICD10:M76.5|SCTID:37785001|DOID:10471|ICD10:M76.50|UMLS:C0158317|ICD9:726.64 owl:Class HGNC:5154 biolink:NamedThing HPGD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700075 biolink:NamedThing congenital muscular dystrophy caused by varation in POMGNT2 Any congenital muscular dystrophy in which the cause of the disease is a varation in the POMGNT2 gene. tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy-POMGNT2 related|congenital muscular dystrophy caused by mutation in POMGNT2 http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0002359 biolink:NamedThing fibrous pericardium Membrane organ which is attached to the pericardial sac proper and the central tendon of diaphragm and is continuous with the pretracheal fascia.[FMA] tmpak2llvmy_mondo_relaxed.owl fibrous portion of pericardium|pericardium fibrosum owl:Class UBERON:0001488 biolink:NamedThing ankle joint A joint that connects the hindlimb autopod and zeugopod skeletons. tmpak2llvmy_mondo_relaxed.owl talocrural articulation|hock joint|talocrural joint|talotibial joint|hock|gambrel|mortise joint owl:Class MONDO:0005003 biolink:NamedThing chronic pancreatitis A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl pancreatitis, chronic MESH:D050500|EFO:0000342|ICD9:577.1|UMLS:C0149521|SCTID:235494005|NCIT:C84637 owl:Class GO:0050771 biolink:NamedThing negative regulation of axonogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis. tmpak2llvmy_mondo_relaxed.owl downregulation of axonogenesis|inhibition of axonogenesis|down-regulation of axonogenesis|down regulation of axonogenesis owl:Class MONDO:0032611 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 6 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6|MC1DN6 OMIM:618228 owl:Class HGNC:7708 biolink:NamedThing NDUFS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033341 biolink:NamedThing regulation of collagen binding Any process that modulates the frequency, rate or extent of collagen binding. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005518 biolink:NamedThing collagen binding Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006541 biolink:NamedThing glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. tmpak2llvmy_mondo_relaxed.owl glutamine metabolism owl:Class GO:0007596 biolink:NamedThing blood coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. tmpak2llvmy_mondo_relaxed.owl blood clotting owl:Class MONDO:0002697 biolink:NamedThing ovarian gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl ovary gonadoblastoma|gonadoblastoma of ovary|GBY|gonadoblastoma|ovarian gonadoblastoma|ovarian gonadoblastoma (disease) ovarian gonadoblastoma (disease) UMLS:C1518716|Orphanet:206484|HP:0000149|OMIM:424500|EFO:1000420|NCIT:C39985|SCTID:716594002|DOID:3578 owl:Class ENVO:01001084 biolink:NamedThing particulate matter formation process A process during which microscopic solid or liquid objects are formed. tmpak2llvmy_mondo_relaxed.owl particle formation owl:Class ENVO:01000060 biolink:NamedThing particulate matter Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000266 biolink:NamedThing water vapour Water vapour is a vapour which is the gas phase of water. tmpak2llvmy_mondo_relaxed.owl aqueous vapour|water vapor|aqueous vapor owl:Class UBERON:0013687 biolink:NamedThing pericranium Periosteum that is part of a skull. tmpak2llvmy_mondo_relaxed.owl periosteum externum cranii owl:Class UBERON:0009122 biolink:NamedThing adenohypophyseal placode The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary tmpak2llvmy_mondo_relaxed.owl pituitary placode owl:Class CHEBI:4469 biolink:NamedThing (S)-amphetamine A 1-phenylpropan-2-amine that has S configuration. tmpak2llvmy_mondo_relaxed.owl (S)-amphetamine|(+)-(S)-amphetamine|(+)-amphetamine|(S)-(+)-beta-phenylisopropylamine|(2S)-1-phenylpropan-2-amine|(+)-alpha-methylphenethylamine|(alphaS)-alpha-methylbenzeneethanamine|(+)-alpha-methylphenylethylamine|d-amphetamine|(S)-1-phenyl-2-aminopropane|(S)-alpha-methylbenzeneethanamine|dexamphetamine|Dextroamphetamine|(S)-1-phenyl-2-propylamine|(S)-(+)-amphetamine owl:Class UBERON:0006633 biolink:NamedThing coracoid process of scapula A process of the scapula in most mammals representing the remnant of the coracoid bone of lower vertebrates thas has become fused with the scapula. tmpak2llvmy_mondo_relaxed.owl processus coracoideus|coracoid process|coracoid process of the scapula owl:Class CL:0000008 biolink:NamedThing migratory cranial neural crest cell Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0600019 biolink:NamedThing acinar dysplasia caused by mutation in TBX4 Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpak2llvmy_mondo_relaxed.owl TBX4 acinar dysplasia|TBX4 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0019869 biolink:NamedThing mosaic trisomy 22 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 22|trisomy 22 mosaicism|Mosaic trisomy type 22 MESH:C536796|SCTID:764625002|ICD10:Q92.1|Orphanet:96068|GARD:0006085 https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 owl:Class GO:0051057 biolink:NamedThing positive regulation of small GTPase mediated signal transduction Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction. tmpak2llvmy_mondo_relaxed.owl upregulation of small GTPase mediated signal transduction|positive regulation of small GTPase-mediated signal transduction|up regulation of small GTPase mediated signal transduction|activation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|up-regulation of small GTPase mediated signal transduction owl:Class UBERON:0003464 biolink:NamedThing hindlimb bone A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle) tmpak2llvmy_mondo_relaxed.owl bone of hind limb|hind limb bone|hind limb bone organ|bone of hindlimb|bone organ of hindlimb|bone of inferior member|bone of lower extremity|bone organ of lower extremity|hindlimb bone organ|bone organ of hind limb owl:Class UBERON:0010885 biolink:NamedThing hindlimb cartilage element A cartilaginous condensation that has the potential to develop into a hindlimb bone. tmpak2llvmy_mondo_relaxed.owl hindlimb cartilage condensation owl:Class UBERON:0011972 biolink:NamedThing medial ligament of ankle joint A skeletal ligament that connects a tibia and connects a tarsal skeleton. tmpak2llvmy_mondo_relaxed.owl deltoid ligament of ankle joint|ligamentum collaterale mediale articulationis talocruralis|deltoid collateral ligament of ankle joint|ligamentum deltoideum|ligamentum collaterale mediale (articulatio talocruralis)|medial collateral ligament of ankle joint|ligamentum deltoideum (articulatio talocruralis) owl:Class UBERON:0009879 biolink:NamedThing tarsal skeleton Subdivision of skeleton that consists of endochondral elements distal to the zeugopodial skeletal elements which constitute the proximal region of the posterior autopod skeleton[PHENOSCAPE:ad]. tmpak2llvmy_mondo_relaxed.owl tarsal bones set|tarsus|skeletal parts of hind mesopodium|set of tarsal bones|hind mesopodium skeleton|mesopodium|tarsalia|tarsal bones|basipodium|hind mesopodium|hind mesopodial skeleton owl:Class MONDO:0013252 biolink:NamedThing Warsaw breakage syndrome A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. tmpak2llvmy_mondo_relaxed.owl Warsaw breakage syndrome|WABS|WARSAW breakage syndrome OMIM:613398|ICD9:759.89|DOID:0060535|SCTID:702829000|Orphanet:280558|UMLS:C3150658 owl:Class HGNC:2736 biolink:NamedThing DDX11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008503 biolink:NamedThing Worster-Drought syndrome Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. tmpak2llvmy_mondo_relaxed.owl suprabulbar paresis congenital|suprabulbar paresis, congenital|congenital suprabulbar paresis|Worster Drought syndrome|Worster-Drought syndrome OMIM:185480|Orphanet:3465|UMLS:C0796204|ICD10:G80.8|SCTID:716335003|MESH:C536747|GARD:0005598 https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome owl:Class MONDO:0003911 biolink:NamedThing ciliary body mixed cell melanoma A mixed cell uveal melanoma that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl mixed cell uveal melanoma of ciliary body|ciliary body mixed cell uveal melanoma|ciliary body mixed cell melanoma NCIT:C35783|UMLS:C1333051|DOID:6523 owl:Class MONDO:0043108 biolink:NamedThing infantile striato thalamic degeneration tmpak2llvmy_mondo_relaxed.owl GARD:0003004|Orphanet:1575 owl:Class CHEBI:32785 biolink:NamedThing tyrosinate(2-) tmpak2llvmy_mondo_relaxed.owl tyrosinate(2-)|tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosine dianion owl:Class CHEBI:32784 biolink:NamedThing tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. tmpak2llvmy_mondo_relaxed.owl tyrosine anion|tyrosinate(1-)|2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen tyrosinate owl:Class MONDO:0019431 biolink:NamedThing primitive portal vein thrombosis Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. tmpak2llvmy_mondo_relaxed.owl non-cirrhotic portal vein thrombosis MedDRA:10036206|ICD10:I81|Orphanet:854 owl:Class MONDO:0018115 biolink:NamedThing epidermal nevus syndrome A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. tmpak2llvmy_mondo_relaxed.owl Epidermal hamartoma syndrome ICD10:Q85.8|SCTID:239112008|Orphanet:35125|MedDRA:10014985 owl:Class NCBITaxon:666 biolink:NamedThing Vibrio cholerae tmpak2llvmy_mondo_relaxed.owl Vibrio cholerae-asiaticae|Bacillus cholerae|Vibrio comma|Spirillum cholerae-asiaticae|Vibrio cholera|Vibrio albensis|Bacillus cholerae-asiaticae|Vibrio cholerae biovar albensis|Kommabacillus|Vibrio cholerae bv. albensis|Pacinia cholerae-asiaticae|Liquidivibrio cholerae|Microspira comma|Spirillum cholerae|Bacillo virgola del Koch PMID:1015934|PMID:9272984|GC_ID:11 NCBITaxon:376726|NCBITaxon:140100 ncbi_taxonomy owl:Class CL:1000276 biolink:NamedThing smooth muscle fiber of duodenum A smooth muscle cell that is part of the duodenum. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of duodenum FMA:15058 cell owl:Class UBERON:0004064 biolink:NamedThing neural tube basal plate The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons. tmpak2llvmy_mondo_relaxed.owl spinal cord basal plate|basal plate of neural tube|ventral part of neural tube|basal plate|motor part of neural tube owl:Class UBERON:0003111 biolink:NamedThing sphenoid region Anatomical cluster that forms the floor and sidewalls of the middle part of the cranium. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001703 biolink:NamedThing neurocranium Subdivision of skeletal system that surrounds and protects the brain. Includes the skull base, sensory capsules and the central part of the skull roof. tmpak2llvmy_mondo_relaxed.owl braincase|brain box|brain pan|brain case owl:Class MONDO:0014396 biolink:NamedThing dilated cardiomyopathy 1NN Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. tmpak2llvmy_mondo_relaxed.owl CMD1NN|dilated cardiomyopathy type 1NN|cardiomyopathy, dilated, 1NN|cardiomyopathy, dilated, type 1Nn|RAF1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in RAF1 ICD10:I42.0|DOID:0110432|OMIM:615916|UMLS:C4014656 owl:Class HGNC:9829 biolink:NamedThing RAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004357 biolink:NamedThing glutamate-cysteine ligase activity Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. tmpak2llvmy_mondo_relaxed.owl gamma-glutamylcysteinyl synthetase activity|gamma-glutamylcysteine synthetase activity|gamma-glutamyl-L-cysteine synthetase activity|L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity owl:Class UBERON:0005323 biolink:NamedThing mesonephric mesenchyme Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000080 biolink:NamedThing mesonephros The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. tmpak2llvmy_mondo_relaxed.owl mesonephric kidney|mesonephroi|middle kidney|corpus Wolffi|opisthonephros|opisto nephros|amphibian adult kidney|opistonephros|Wolffian body owl:Class MONDO:0013474 biolink:NamedThing hypertrophic cardiomyopathy 17 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in JPH2|hypertrophic cardiomyopathy type 17|JPH2 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 17|cardiomyopathy, familial hypertrophic, type 17|CMH17|cardiomyopathy, familial hypertrophic, 17 UMLS:C3151264|OMIM:613873|DOID:0110323 owl:Class GO:0030218 biolink:NamedThing erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. tmpak2llvmy_mondo_relaxed.owl erythropoiesis|erythrocyte cell differentiation|red blood cell differentiation|RBC differentiation owl:Class UBERON:0035130 biolink:NamedThing auditory ossicle endochondral element tmpak2llvmy_mondo_relaxed.owl ossicle element of ear|ossicle element of inner ear|ear ossicle element|ear ossicles element|middle ear ossicle element|auditory skeletal element|middle ear skeletal element|ossicular chain element|ossicle element owl:Class MONDO:0009904 biolink:NamedThing Gitelman syndrome Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. tmpak2llvmy_mondo_relaxed.owl familial hypokalemia-hypomagnesemia|Potassium and magnesium depletion|Gitelman syndrome|GTLMNS|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Gitelman's syndrome DOID:0050450|ICD9:275.49|Orphanet:358|SCTID:707756004|GARD:0008547|UMLS:C0268450|MESH:D053579|OMIM:263800|MedDRA:10062906|NCIT:C84730|ICD10:N15.8 https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome owl:Class HGNC:10912 biolink:NamedThing SLC12A3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010233 biolink:NamedThing stroma of thyroid gland The connective tissue that supports the lobules and follicles of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid stroma|thyroid gland stroma owl:Class CHEBI:29986 biolink:NamedThing D-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group tmpak2llvmy_mondo_relaxed.owl hydrogen D-glutamate|D-glutamic acid monoanion|D-glutamate(1-)|(2R)-2-ammoniopentanedioate|D-glutamate owl:Class MONDO:0015079 biolink:NamedThing multiple polyglandular tumor tmpak2llvmy_mondo_relaxed.owl UMLS:CN197373|ICD10:D44.8|Orphanet:100094 Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad owl:Class MONDO:0016114 biolink:NamedThing bulbospinal muscular atrophy of childhood A bulbospinal muscular atrophy that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood bulbospinal muscular atrophy|bulbospinal muscular atrophy of childhood|pediatric bulbospinal muscular atrophy Orphanet:206704|ICD10:G12.2 owl:Class GO:0010623 biolink:NamedThing programmed cell death involved in cell development The activation of endogenous cellular processes that result in the death of a cell as part of its development. tmpak2llvmy_mondo_relaxed.owl programmed cell death involved in development|developmental programmed cell death owl:Class UBERON:0001159 biolink:NamedThing sigmoid colon The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. tmpak2llvmy_mondo_relaxed.owl colon sigmoideum|sigmoid flexure|pelvic colon|sigmoid colon owl:Class MONDO:0009109 biolink:NamedThing lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. tmpak2llvmy_mondo_relaxed.owl dibasic aminoaciduria 2|lysinuric protein intolerance|LPI|hyperdibasic aminoaciduria type 2|hyperdibasic aminoaciduria|Dibasicamino aciduria II|lysinuric PROTEIN intolerance|dibasic amino aciduria II|dibasic amino aciduria 2 ICD10:E72.0|ICD9:270.8|OMIM:222700|MedDRA:10058300|UMLS:C0268647|GARD:0003335|SCTID:303852004|NCIT:C121563|GARD:0001853|MESH:C562687|Orphanet:470|DOID:0060439 https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance|https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 owl:Class HGNC:11065 biolink:NamedThing SLC7A7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015455 biolink:NamedThing gonococcal conjunctivitis Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. tmpak2llvmy_mondo_relaxed.owl gonococcal ophthalmia neonatorum|conjunctivitis gonococcal NCIT:C116816|ICD10:A54.3+|ICD10:H13.1*|Orphanet:1482|GARD:0002546|ICD10:A54.31|SCTID:231858009 https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis owl:Class MONDO:0011537 biolink:NamedThing macrocephaly-autism syndrome An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. tmpak2llvmy_mondo_relaxed.owl macrocephaly-intellectual disability-autism syndrome|macrocephaly/autism syndrome OMIM:605309|Orphanet:210548|MESH:C565342|UMLS:C1854416|DOID:0060867 owl:Class HP:0000717 biolink:NamedThing Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). tmpak2llvmy_mondo_relaxed.owl Autism SNOMEDCT_US:408856003|UMLS:C0004352|SNOMEDCT_US:408857007|MSH:D001321|SNOMEDCT_US:43614003 The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. human_phenotype owl:Class MONDO:0003378 biolink:NamedThing liver leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of liver|hepatic leiomyosarcoma|liver leiomyosarcoma|leiomyosarcoma of the liver DOID:5296|NCIT:C5756|UMLS:C1333969 owl:Class MONDO:0014890 biolink:NamedThing PERCHING syndrome Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. tmpak2llvmy_mondo_relaxed.owl CRISPONI/cold-induced sweating syndrome 3|cold-induced sweating syndrome 3|KLHL7 cold-induced sweating syndrome|CISS3|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities|Crisponi/cold-induced sweating syndrome 3|cold-induced sweating syndrome caused by mutation in KLHL7|PERCHING|cold-induced sweating syndrome type 3 DOID:0080331|UMLS:C4310742|OMIM:617055 owl:Class MONDO:0008294 biolink:NamedThing acute intermittent porphyria Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. tmpak2llvmy_mondo_relaxed.owl porphobilinogen deaminase deficiency|HMBS deficiency|porphyria, acute intermittent, Nonerythroid variant|porphyria, Swedish type|AIP|PBGD deficiency|porphyria intermittent acute|pyrroloporphyria|hydroxymethylbilane synthase deficiency|porphyria, acute intermittent|uroporphyrinogen synthase deficiency|UPS deficiency|AIP - acute intermittent porphyria|porphyria, Chester type|acute intermittent porphyria NCIT:C84536|DOID:3890|GARD:0005732|Orphanet:79276|SCTID:234422006|OMIM:176000|MESH:D017118|UMLS:C0162565|ICD10:E80.2 owl:Class HGNC:4982 biolink:NamedThing HMBS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010361 biolink:NamedThing intellectual disability, X-linked 30 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. tmpak2llvmy_mondo_relaxed.owl MRX30|intellectual disability, X-linked type 30|intellectual disability, X-linked 30|mental retardation, X-linked 30|mental retardation, X-linked type 30|PAK3 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in PAK3|mental retardation, X-linked 47|intellectual disability, X-linked 47 UMLS:C0796237|OMIM:300558 owl:Class HGNC:8592 biolink:NamedThing PAK3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002432 biolink:NamedThing CD24-positive, CD4 single-positive thymocyte A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpak2llvmy_mondo_relaxed.owl CD24-positive, CD4 single-positive semimature thymocyte|T.4SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:43:52Z cell owl:Class MONDO:0014106 biolink:NamedThing hypogonadotropic hypogonadism 20 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism 20 with or without anosmia|HH20|FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in FGF17 UMLS:C3808983|DOID:0090082|ICD10:E23.0|OMIM:615270 owl:Class HGNC:3673 biolink:NamedThing FGF17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000232 biolink:NamedThing Flinders island spotted fever A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. tmpak2llvmy_mondo_relaxed.owl FISF|Thai tick typhus DOID:0050047|UMLS:C4505102 owl:Class NCBITaxon:37816 biolink:NamedThing Rickettsia honei tmpak2llvmy_mondo_relaxed.owl Flinders Island spotted fever rickettsia|Thai tick typhus rickettsia PMID:9828442|GC_ID:11|PMID:8735110 NCBITaxon:45259 ncbi_taxonomy owl:Class UBERON:0001976 biolink:NamedThing epithelium of esophagus the epithelial layer that lines the luminal space of the esophagus tmpak2llvmy_mondo_relaxed.owl oesophagus epithelium|epithelial tissue of oesophagus|gullet epithelial tissue|epithelial tissue of esophagus|esophagus epithelium|epithelium of gullet|epithelium of oesophagus|gullet epithelium|esophagus epithelial tissue|oesophagus epithelial tissue|esophageal epithelium|epithelial tissue of gullet owl:Class UBERON:0009500 biolink:NamedThing periotic mesenchyme Anatomical region that surrounds the otic vesicle. tmpak2llvmy_mondo_relaxed.owl periotic region|otocyst mesenchyme|otocyst associated mesenchyme owl:Class UBERON:0001460 biolink:NamedThing arm The part of the forelimb extending from the shoulder to the autopod[cjm]. tmpak2llvmy_mondo_relaxed.owl brachium|upper extremity owl:Class UBERON:0001751 biolink:NamedThing dentine Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. tmpak2llvmy_mondo_relaxed.owl dentine of tooth|dentin|predentin owl:Class UBERON:0011587 biolink:NamedThing pre-dentine Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. tmpak2llvmy_mondo_relaxed.owl predentin|predentine tissue|pre-dentine tissue owl:Class MONDO:0014105 biolink:NamedThing hypogonadotropic hypogonadism 19 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism 19 with or without anosmia|DUSP6 hypogonadotropic hypogonadism|HH19|hypogonadotropic hypogonadism caused by mutation in DUSP6 DOID:0090090|UMLS:C3808981|ICD10:E23.0|OMIM:615269 owl:Class HGNC:3072 biolink:NamedThing DUSP6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008024 biolink:NamedThing neuronopathy, distal hereditary motor, type 7A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. tmpak2llvmy_mondo_relaxed.owl Dhmn7A|Dhmnvp|Harper-Young myopathy|HMN7A|neuronopathy, distal hereditary motor caused by mutation in SLC5A7|SLC5A7 neuronopathy, distal hereditary motor|HMN 7A|neuronopathy, distal hereditary motor, type VIIA|neuropathy, distal hereditary motor, type 7A|spinal muscular atrophy, distal, with vocal cord paralysis MESH:C563562|DOID:0111201|OMIM:158580|UMLS:C1834703 owl:Class HGNC:14025 biolink:NamedThing SLC5A7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000335 biolink:NamedThing parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy. tmpak2llvmy_mondo_relaxed.owl DOID:0050490 owl:Class HP:0000737 biolink:NamedThing Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. tmpak2llvmy_mondo_relaxed.owl Irritability|Irritable UMLS:C2700617 human_phenotype owl:Class UBERON:0001217 biolink:NamedThing ileal vein The veins that drain blood from the ileum into the superior mesenteric vein. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004753 biolink:NamedThing scapulocoracoid Skeletal element that consists of the scapula and the coracoid[VSAO, modified]. tmpak2llvmy_mondo_relaxed.owl coraco-scapular cartilage|scapulo-coracoid cartilage|scapulocoracoid cartilage|scapulocoracoideum owl:Class MONDO:0015260 biolink:NamedThing diphyllobothriasis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). tmpak2llvmy_mondo_relaxed.owl Diphyllobothrium caused disease or disorder|Bothriocephalosis|fish tapeworm|Diphyllobothrium infectious disease|Diphyllobothrium infection|Diphyllobothrium disease or disorder GARD:0000942|SCTID:187151009|NCIT:C128391|MESH:D004169|Orphanet:128|ICD9:123.4|ICD10:B70.0|EFO:0007238|DOID:10075|MedDRA:10013029|UMLS:C0012561 owl:Class NCBITaxon:28845 biolink:NamedThing Dibothriocephalus dendriticus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007773 biolink:NamedThing scrotal sweat gland Any sweat gland that is part of a scrotum. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000272 biolink:NamedThing negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. tmpak2llvmy_mondo_relaxed.owl negative regulation of signalling receptor activity|negative regulation of receptor activity owl:Class CL:1000909 biolink:NamedThing kidney loop of Henle epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001047 cell owl:Class MONDO:0002057 biolink:NamedThing breast leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of breast|breast leiomyoma UMLS:C1511317|DOID:1623|NCIT:C40399 owl:Class GO:0015149 biolink:NamedThing hexose transmembrane transporter activity Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008645 biolink:NamedThing hexose transmembrane transport The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule. tmpak2llvmy_mondo_relaxed.owl hexose membrane transport|high-affinity hexose transport|low-affinity hexose transport|hexose transport owl:Class HP:0003073 biolink:NamedThing Hypoalbuminemia Reduction in the concentration of albumin in the blood. tmpak2llvmy_mondo_relaxed.owl Low blood albumin|Low albumin|Hypoalbuminaemia SNOMEDCT_US:119247004|UMLS:C0239981|MSH:D034141 human_phenotype owl:Class CL:0000408 biolink:NamedThing male gamete tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0949|BTO:0001277 cell owl:Class GO:0106015 biolink:NamedThing negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090594 biolink:NamedThing inflammatory response to wounding The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035109 biolink:NamedThing plantar nerve A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve. tmpak2llvmy_mondo_relaxed.owl nerve, plantar owl:Class MONDO:0008682 biolink:NamedThing Denys-Drash syndrome Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. tmpak2llvmy_mondo_relaxed.owl pseudohermaphroditism, nephron disorder and Wilms' tumor|DDS|nephropathy, Wilms tumor, and genital anomalies|Wilms tumor and pseudohermaphroditism|Wilms tumor and pseudo- or true hermaphroditism|Denys-Drash syndrome|Drash syndrome|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|nephrotic syndrome type 4|Denys Drash syndrome SCTID:236385009|MESH:D030321|NCIT:C84668|Orphanet:220|ICD9:189.0|ICD10:N04.1|UMLS:C3151568|GARD:0005576|DOID:3764|UMLS:C0950121|OMIM:194080|MedDRA:10070179 owl:Class HGNC:12796 biolink:NamedThing WT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011176 biolink:NamedThing intestinal hypomagnesemia 1 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. tmpak2llvmy_mondo_relaxed.owl intestinal hypomagnesemia with secondary hypocalcemia|PHSH|hypomagnesemia intestinal type 1|HSH|hypomagnesemia, intestinal, with secondary hypocalcemia|TRPM6 primary hypomagnesemia|hypomagnesemia with secondary hypocalcemia|primary hypomagnesemia with secondary hypocalcemia|hypomagnesemia 1, intestinal|TRPM6 familial primary hypomagnesemia|hypomagnesemia caused by selective magnesium malabsorption|familial primary hypomagnesemia caused by mutation in TRPM6|intestinal hypomagnesemia type 1|HOMG1|hypomagnesemic tetany|primary hypomagnesemia caused by mutation in TRPM6|Homg MESH:C566593|GARD:0013072|SCTID:190856003|Orphanet:30924|UMLS:C1865974|ICD10:E83.4|DOID:0060883|OMIM:602014 owl:Class HGNC:17995 biolink:NamedThing TRPM6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034724 biolink:NamedThing esophageal taste bud A taste bud that is located in the esophagus. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001575 biolink:NamedThing uterine cervix squamous cell Squamous cell of uterine cervix epithelium. tmpak2llvmy_mondo_relaxed.owl uterine cervix squamous epithelial cell|cervix squamous epithelial cell|uterine cervix squamous epithelial cells|cervix, uterine squamous epithelial cells|cervix squamous cell CALOHA:TS-1251 owl:Class GO:0005102 biolink:NamedThing signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpak2llvmy_mondo_relaxed.owl receptor-associated protein activity|receptor ligand|receptor binding owl:Class MONDO:0004028 biolink:NamedThing small intestinal fibrosarcoma A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl small intestinal fibrosarcoma|fibrosarcoma of small intestine|fibrosarcoma, small intestine|small intestine fibrosarcoma (disease)|fibrosarcoma of the small bowel|small intestine fibrosarcoma|fibrosarcoma of small bowel|small bowel fibrosarcoma|fibrosarcoma of the small intestine NCIT:C5336|UMLS:C1335994|DOID:6880 owl:Class ENVO:01000219 biolink:NamedThing anthropogenic terrestrial biome An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity. tmpak2llvmy_mondo_relaxed.owl anthrome|human biome owl:Class ENVO:01000952 biolink:NamedThing anthropisation A process during which a natural environmental system is altered by human action. tmpak2llvmy_mondo_relaxed.owl anthropization owl:Class UBERON:0011823 biolink:NamedThing dense connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008425 biolink:NamedThing mammary ridge A ridge of epidermal cells that will form the mammary placodes. tmpak2llvmy_mondo_relaxed.owl mammary fold|mammary line|mammary gland ridge|milk line owl:Class MONDO:0017859 biolink:NamedThing colchicine poisoning A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. tmpak2llvmy_mondo_relaxed.owl Orphanet:31824|ICD9:974.7|ICD10:T50.4|SCTID:24354007|UMLS:CN203894 owl:Class CHEBI:23359 biolink:NamedThing colchicine An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum. tmpak2llvmy_mondo_relaxed.owl N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide owl:Class MONDO:0021486 biolink:NamedThing benign neoplasm of ciliary body A benign neoplasm that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl benign tumor of ciliary body|benign tumor of the ciliary body|ciliary body benign neoplasm|benign neoplasm of the ciliary body|benign ciliary body neoplasm|benign ciliary body tumor UMLS:C0496894|ICD9:224.0|SCTID:92060009|NCIT:C4779 owl:Class UBERON:0001895 biolink:NamedThing metencephalon Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. tmpak2llvmy_mondo_relaxed.owl epencephalon|epencephalon-2 owl:Class UBERON:0005056 biolink:NamedThing external female genitalia An external genitalia that is part of a female reproductive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organa genitalia feminina externa|external genitalia of female reproductive system|female external genitalia|external female genital organ owl:Class UBERON:0000474 biolink:NamedThing female reproductive system The organs and associated structures associated with bearing offspring in a female animal. tmpak2llvmy_mondo_relaxed.owl genitalia of female organism|female genitals|female reproductive tract|female organism genitalia|female genital tract|female genital system|reproductive system of female organism|female genitalia|systema genitale femininum|female organism reproductive system|gynaecological tissue owl:Class UBERON:0034971 biolink:NamedThing aortic body one of several small clusters of chemoreceptors, baroreceptors, and supporting cells located along the aortic arch. tmpak2llvmy_mondo_relaxed.owl Zuckerkandl's body|aortic glands|aortic bodies owl:Class UBERON:0002337 biolink:NamedThing endometrial stroma The layer of connective tissue comprised of the endometrial lining of the uterus which fluctuates in thickness throughout the menstrual cycle. tmpak2llvmy_mondo_relaxed.owl stroma of endometrium|endometrium stroma owl:Class MONDO:0015298 biolink:NamedThing pellucid marginal degeneration tmpak2llvmy_mondo_relaxed.owl Orphanet:137672|ICD10:H18.7|UMLS:CN199253|GARD:0011895 https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration owl:Class MONDO:0001949 biolink:NamedThing acute thyroiditis Acute form of thyroiditis (disease). tmpak2llvmy_mondo_relaxed.owl acute thyroiditis (disease)|thyroiditis (disease), acute DOID:14353|ICD9:245.0|ICD10:E06.0|UMLS:C0001360|SCTID:190293001 owl:Class MONDO:0006361 biolink:NamedThing penile fibromatosis Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect. tmpak2llvmy_mondo_relaxed.owl Peyronie's fibromatosis|penis fibromatosis|penile fibromatosis|Peyronie's disease|penile induration EFO:1000466|NCIT:C3316 owl:Class CL:0002018 biolink:NamedThing CD71-negative, GlyA-positive orthochromatic erythroblast An erythroblast that is GlyA-positive and CD71-negative. tmpak2llvmy_mondo_relaxed.owl Markers associated with human cells. tmeehan 2010-04-26T11:04:21Z cell owl:Class MONDO:0014582 biolink:NamedThing congenital myasthenic syndrome 2C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|CMS2C|congenital myasthenic syndrome type 2C UMLS:C4225373|OMIM:616314|DOID:0110680 owl:Class HGNC:1961 biolink:NamedThing CHRNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014429 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl autosomal dominant MSMD due to partial IFNgammaR1 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|IMD27B|immunodeficiency 27B|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|immunodeficiency type 27B|IFNGR1 deficiency, autosomal dominant Orphanet:319581|UMLS:C4014863|OMIM:615978|ICD10:D84.8 owl:Class UBERON:0001301 biolink:NamedThing epididymis the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3530 biolink:NamedThing F12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021130 biolink:NamedThing disorder of sphingolipid biosynthesis An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl inborn sphingolipid biosynthetic process disorder|inborn error of sphingolipid biosynthetic process|rare inborn error of sphingolipid biosynthetic process owl:Class MONDO:0011706 biolink:NamedThing Kufor-Rakeb syndrome Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. tmpak2llvmy_mondo_relaxed.owl PARK9|KRS|park 9|autosomal recessive Parkinson disease 9|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|KRPPD|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|ceroid lipofuscinosis, neuronal, 12|Parkinson disease type 9|Parkinson disease 9, autosomal recessive, juvenile-onset|autosomal recessive juvenile onset Parkinson disease 9|Kufor-Rakeb syndrome|Parkinson disease 9, autosomal recessive ICD10:G23.0|Orphanet:306674|MESH:C537177|DOID:0060556|GARD:0009174|OMIM:606693 owl:Class HGNC:30213 biolink:NamedThing ATP13A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000039 biolink:NamedThing follicular antrum Region of ovarian follicle filled with follicular fluid. tmpak2llvmy_mondo_relaxed.owl antrum folliculare|antral cavity|ovarian follicle antrum|antrum follicularum owl:Class MONDO:0017291 biolink:NamedThing reversible cerebral vasoconstriction syndrome Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. tmpak2llvmy_mondo_relaxed.owl RCVS GARD:0012768|ICD10:I67.8|Orphanet:284388|UMLS:C3544214|SCTID:700467001|ICD9:437.8 https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome owl:Class NCIT:C45980 biolink:NamedThing Absence of a Hormonal Syndrome tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003610 biolink:NamedThing rete ovarii cystadenoma An exceptionally rare cystadenoma that arises from the rete ovarii. tmpak2llvmy_mondo_relaxed.owl rete ovarii cystadenoma UMLS:C1514907|NCIT:C40019|DOID:5725 owl:Class MONDO:0013274 biolink:NamedThing retinitis pigmentosa 51 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. tmpak2llvmy_mondo_relaxed.owl RP51|TTC8 retinitis pigmentosa|retinitis pigmentosa type 51|retinitis pigmentosa caused by mutation in TTC8|retinitis pigmentosa 51 ICD10:H35.5|OMIM:613464|UMLS:C3150715|DOID:0110398 owl:Class UBERON:0004664 biolink:NamedThing aorta tunica adventitia the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers tmpak2llvmy_mondo_relaxed.owl tunica adventitia of aorta owl:Class MONDO:0017210 biolink:NamedThing infectious anterior uveitis An infectious disease involving a pathogenic inflammatory response in the anterior uvea. tmpak2llvmy_mondo_relaxed.owl secondary iridocyclitis, infectious|infectious secondary iridocyclitis|secondary infected iridocyclitis ICD10:H20.0|ICD9:364.03|Orphanet:279922|ICD10:H20.1|SCTID:193487008|ICD10:H20.8|ICD10:H20.03|UMLS:C0154911|ICD10:H20.9|ICD10:H20.2|DOID:9389 owl:Class MONDO:0002869 biolink:NamedThing heart valve disease A disease involving the cardial valve. tmpak2llvmy_mondo_relaxed.owl disorder of heart valve|disease of cardial valve|disorder of cardial valve|heart valve disorder|disease or disorder of cardial valve|cardial valve disease|valvular heart disease|valvular heart disorder|cardial valve disease or disorder MESH:D006349|UMLS:C0018824|ICD9:424.99|NCIT:C45525|DOID:4079|SCTID:368009 owl:Class UBERON:0000946 biolink:NamedThing cardial valve A membranous fold of the heart that prevents reflux of fluid tmpak2llvmy_mondo_relaxed.owl stomodaeal valve|heart valves|heart valve|valve of heart|valvule|cardiac valve owl:Class GO:0002582 biolink:NamedThing positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpak2llvmy_mondo_relaxed.owl activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II owl:Class GO:0002504 biolink:NamedThing antigen processing and presentation of peptide or polysaccharide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. tmpak2llvmy_mondo_relaxed.owl peptide or polysaccharide antigen processing and presentation of via MHC class II owl:Class MONDO:0014710 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|immunodeficiency type 42|immunodeficiency 42|autosomal recessive MSMD due to complete RORgamma receptor defiency|RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IMD42|autosomal recessive primary immunodeficiency due to RORC mutation OMIM:616622|UMLS:C4225266|Orphanet:477857 owl:Class HGNC:10260 biolink:NamedThing RORC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013675 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 2 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. tmpak2llvmy_mondo_relaxed.owl BOLA3 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome type 2|multiple mitochondrial dysfunctions syndrome 2|BOLA3 deficiency|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|MMDS2|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3 ICD10:E88.8|DOID:0080134|Orphanet:401874|UMLS:C3280378|OMIM:614299 owl:Class HGNC:24415 biolink:NamedThing BOLA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013208 biolink:NamedThing cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome tmpak2llvmy_mondo_relaxed.owl HMDPC|hypermanganesemia with dystonia, polycythemia, and cirrhosis|cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome|HMNDYT1|hypermanganesemia with dystonia polycythemia and cirrhosis|hypermanganesemia with dystonia 1 MESH:C548016|UMLS:CN035550|GARD:0010706|OMIM:613280|DOID:0080536|Orphanet:309854|ICD9:277.89|SCTID:702377007 owl:Class HGNC:25355 biolink:NamedThing SLC30A10 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26404 biolink:NamedThing NADK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016267 biolink:NamedThing undifferentiated carcinoma of the corpus uteri Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. tmpak2llvmy_mondo_relaxed.owl body of uterus undifferentiated carcinoma|endometrial undifferentiated carcinoma ICD10:C50|Orphanet:213721 owl:Class UBERON:0007284 biolink:NamedThing presumptive neural plate A presumptive structure that has the potential to develop into a neural plate. tmpak2llvmy_mondo_relaxed.owl prospective neuroectoderm|prospective vegetal ectoderm owl:Class OBO:CHR_9606-chrX biolink:NamedThing chrX (Human) tmpak2llvmy_mondo_relaxed.owl 156040895 0 hg38 owl:Class CL:0000006 biolink:NamedThing neuronal receptor cell tmpak2llvmy_mondo_relaxed.owl neuronal receptor cell (sensu Animalia) cell owl:Class MONDO:0013416 biolink:NamedThing age related macular degeneration 8 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. tmpak2llvmy_mondo_relaxed.owl macular degeneration, age-related, 8|age related macular degeneration type 8|ARMS2 age-related macular degeneration|ARMD8|macular Degeneration, age-related, type 8|age-related macular degeneration caused by mutation in ARMS2 OMIM:613778|UMLS:C3151070|DOID:0110020 owl:Class HGNC:32685 biolink:NamedThing ARMS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003113 biolink:NamedThing dermatocranium Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. tmpak2llvmy_mondo_relaxed.owl dermal skull bones|skull exoskeleton|skull roof|dermal skull roof|dermatocranial cover|dermal part of skull|dendrocranium|roof of skull|exocranium|roofing bones of the skull|dermal bone cranium owl:Class UBERON:0019143 biolink:NamedThing intramuscular adipose tissue Adipose tissue which is located throughout skeletal muscle and is responsible for the marbling seen in certain cuts of beef. In humans, excess accumulation of intramuscular fat is associated with insulin resistance and type 2 diabetes. tmpak2llvmy_mondo_relaxed.owl intramuscular fat owl:Class CL:0008035 biolink:NamedThing microcirculation associated smooth muscle cell tmpak2llvmy_mondo_relaxed.owl dos 2020-02-29 17:37:00+00:00 owl:Class UBERON:0010523 biolink:NamedThing microcirculatory vessel A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. tmpak2llvmy_mondo_relaxed.owl microcirculatory vessels owl:Class MONDO:0013050 biolink:NamedThing lethal polymalformative syndrome, Boissel type tmpak2llvmy_mondo_relaxed.owl growth retardation, developmental delay, and facial dysmorphism|GDFD OMIM:612938|ICD10:Q87.8|Orphanet:210144|MESH:C567856 owl:Class HGNC:24678 biolink:NamedThing FTO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012832 biolink:NamedThing inflammatory bowel disease 14 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease caused by mutation in IRF5|inflammatory bowel disease type 14|inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease OMIM:612245|DOID:0110895|UMLS:C2677100|MESH:C567383 owl:Class HGNC:6120 biolink:NamedThing IRF5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012394 biolink:NamedThing multiple synostoses syndrome 2 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. tmpak2llvmy_mondo_relaxed.owl multiple synostoses syndrome 2|GDF5 multiple synostoses syndrome|SYNS2|multiple synostoses syndrome caused by mutation in GDF5|multiple synostoses syndrome type 2 UMLS:C1832708|GARD:0009916|OMIM:610017|MESH:C537380 https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 owl:Class HGNC:4220 biolink:NamedThing GDF5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011137 biolink:NamedThing retinitis pigmentosa 19 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 19|ABCA4 retinitis pigmentosa|RP19|retinitis pigmentosa caused by mutation in ABCA4|RP 19|retinitis pigmentosa 19 OMIM:601718|MESH:C566637|DOID:0110354|ICD10:H35.5|GARD:0010398|UMLS:C1866422 https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19 owl:Class HGNC:34 biolink:NamedThing ABCA4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010528 biolink:NamedThing pneumatic cavity of bone tmpak2llvmy_mondo_relaxed.owl air space of bone owl:Class UBERON:0008193 biolink:NamedThing pneumatized bone A bone that is hollow or contains many air cells, such as the mastoid process of the temporal bone[TMD]. tmpak2llvmy_mondo_relaxed.owl hollow bone|pneumatic bone|os pneumaticum owl:Class CHEBI:77941 biolink:NamedThing EC 3.5.1.4 (amidase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). tmpak2llvmy_mondo_relaxed.owl amidase (EC 3.5.1.4) inhibitor|deaminase inhibitor|amidase (EC 3.5.1.4) inhibitors|acylamidase inhibitor|EC 3.5.1.4 inhibitor|amidase inhibitor|acylamide amidohydrolase inhibitors|acylamide amidohydrolase inhibitor|fatty acylamidase inhibitor|acylamidase inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitors|EC 3.5.1.4 (amidase) inhibitors|amidohydrolase inhibitor|N-acetylaminohydrolase inhibitor|amidohydrolase inhibitors|fatty acylamidase inhibitors|amidase inhibitors|EC 3.5.1.4 inhibitors owl:Class CHEBI:30413 biolink:NamedThing heme A heme is any tetrapyrrolic chelate of iron. tmpak2llvmy_mondo_relaxed.owl haeme|haem|hemos|hemes|hem|heme|Haem owl:Class UBERON:0005192 biolink:NamedThing deferent duct artery An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP]. tmpak2llvmy_mondo_relaxed.owl vas deferens artery|ductus deferens artery|artery of ductus deferens|arteria ductus deferentis owl:Class UBERON:0001312 biolink:NamedThing superior vesical artery An artery that supplies blood to the upper urinary bladder. tmpak2llvmy_mondo_relaxed.owl arteria vesicalis superior|arteriae vesicales superiores|arteria vesicali superior owl:Class MONDO:0016470 biolink:NamedThing Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. tmpak2llvmy_mondo_relaxed.owl EDS/OI syndrome UMLS:CN201460|Orphanet:230857|MESH:C565178|ICD10:Q79.6|OMIMPS:619115 owl:Class MONDO:0019725 biolink:NamedThing pediatric systemic lupus erythematosus tmpak2llvmy_mondo_relaxed.owl SLE, pediatric onset ICD10:M32.0|ICD10:M32.1|Orphanet:93552|ICD10:M32.9|ICD10:M32.8 owl:Class HGNC:341 biolink:NamedThing AGXT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005297 biolink:NamedThing urethritis Inflammation of the urethra. tmpak2llvmy_mondo_relaxed.owl Nongonococcal urethritis|urethra inflammation|inflammation of urethra|non-gonococcal urethritis|urethritis|urethritis (disease) urethritis (disease) SCTID:84619001|EFO:0003878|MESH:D014526|ICD10:N34.2|DOID:1343|NCIT:C26904|ICD9:597.80|HP:0500006|ICD9:099.40 owl:Class CL:0002539 biolink:NamedThing aortic smooth muscle cell A smooth muscle cell of the aorta. tmpak2llvmy_mondo_relaxed.owl BTO:0004577 tmeehan 2011-02-28T01:42:12Z cell owl:Class MONDO:0021747 biolink:NamedThing Acanthamoeba infectious disease A infectious disease involving the Acanthamoeba. tmpak2llvmy_mondo_relaxed.owl acanthamoebosis|Acanthamoeba infection|infection caused by Acanthamoeba|infection by Acanthamoeba|acanthamoebiasis|infections, Acanthamoeba SCTID:49649001 owl:Class NCBITaxon:5754 biolink:NamedThing Acanthamoeba tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:33913 biolink:NamedThing corrinoid A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. tmpak2llvmy_mondo_relaxed.owl corrinoide|Korrinoid|corrinoides|corrinoid|Corrinoid protein Co+|Corrinoid protein|corrinoids|Corrinoid owl:Class MONDO:0015647 biolink:NamedThing thinking seizures Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. tmpak2llvmy_mondo_relaxed.owl Orphanet:166424|UMLS:CN200057|ICD10:G40.8|SCTID:763622006 owl:Class OBO:MF_0000013 biolink:NamedThing thinking a mental process that involves the manipulation of mental language and/or mental images tmpak2llvmy_mondo_relaxed.owl act of thinking owl:Class MONDO:0001818 biolink:NamedThing facial neuralgia Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. tmpak2llvmy_mondo_relaxed.owl facial nerve neuralgia|neuralgia of facial nerve DOID:13865|SCTID:4151000119102|MESH:D005156|ICD9:351.8 owl:Class UBERON:0002315 biolink:NamedThing gray matter of spinal cord The ridge-shaped grey matter of the spinal cord that extends longitudunally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue. tmpak2llvmy_mondo_relaxed.owl spinal cord grey substance|gray substance of spinal cord|grey substance of spinal cord|spinal cord grey matter|spinal cord gray matter|gray matter of spinal cord|substantia grisea medullae spinalis|grey matter of spinal cord owl:Class MONDO:0000108 biolink:NamedThing bacteremia, susceptibility tmpak2llvmy_mondo_relaxed.owl UMLS:C3280646 owl:Class MONDO:0005229 biolink:NamedThing bacterial infectious disease with sepsis An infectious disease caused by bacteria causing sepsis. tmpak2llvmy_mondo_relaxed.owl bacteremia|Bacteremias|bacterial sepsis|symptomatic bacteremia UMLS:C0004610|MESH:D016470|SCTID:5758002|DOID:0040085|ICD9:790.7|EFO:0003033|Wikipedia:Bacteremia owl:Class CHEBI:44185 biolink:NamedThing methotrexate tmpak2llvmy_mondo_relaxed.owl Rheumatrex|methotrexatum|Emtexate|metotrexato|METHOTREXATE|4-amino-N(10)-methylpteroylglutamic acid|MTX|4-amino-10-methylfolic acid|Methotrexate|Ledertrexate|methotrexate|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|Trexall owl:Class CHEBI:16015 biolink:NamedThing L-glutamic acid An optically active form of glutamic acid having L-configuration. tmpak2llvmy_mondo_relaxed.owl acide glutamique|L-Glu|L-Glutaminic acid|L-Glutaminsaeure|L-Glutamic acid|Glu|(2S)-2-aminopentanedioic acid|Glutamate|acido glutamico|L-glutamic acid|glutamic acid|acidum glutamicum|GLUTAMIC ACID|(S)-glutamic acid|E|(S)-2-aminopentanedioic acid owl:Class HP:0012393 biolink:NamedThing Allergy An allergy is an immune response or reaction to substances that are usually not harmful. tmpak2llvmy_mondo_relaxed.owl Allergy SNOMEDCT_US:419076005|UMLS:C1527304|MSH:D006967 peter 2013-11-07T07:47:22Z human_phenotype owl:Class HGNC:18083 biolink:NamedThing TRPV4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005194 biolink:NamedThing Rotavirus infection Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. tmpak2llvmy_mondo_relaxed.owl Rotavirus disease or disorder|Rotavirus infectious disease|Rotavirus caused disease or disorder ICD9:078.89|EFO:0002622|UMLS:C0035869|MESH:D012400|SCTID:18624000 owl:Class MONDO:0014026 biolink:NamedThing congenital stationary night blindness 1F Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene. tmpak2llvmy_mondo_relaxed.owl LRIT3 congenital stationary night blindness|congenital stationary night blindness 1F autosomal recessive|CSNB1F|night blindness, congenital stationary, type 1F|congenital stationary night blindness caused by mutation in LRIT3|congenital stationary night blindness type 1F UMLS:C3554399|DOID:0110864|OMIM:615058 owl:Class HGNC:24783 biolink:NamedThing LRIT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014652 biolink:NamedThing exudative vitreoretinopathy 6 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. tmpak2llvmy_mondo_relaxed.owl exudative vitreoretinopathy caused by mutation in ZNF408|exudative vitreoretinopathy type 6|exudative vitreoretinopathy 6|ZNF408 exudative vitreoretinopathy|EVR6 DOID:0111410|OMIM:616468|UMLS:C4225316 owl:Class MONDO:0056799 biolink:NamedThing synovium disease A disease or disorder that involves the layer of synovial tissue. tmpak2llvmy_mondo_relaxed.owl layer of synovial tissue disease or disorder|disease or disorder of layer of synovial tissue|disorder of synovium|disease of layer of synovial tissue|layer of synovial tissue disease|disorder of layer of synovial tissue ICD9:727.89|ICD9:727.9|SCTID:3519007|UMLS:C0263945 owl:Class UBERON:0004456 biolink:NamedThing entire sense organ system Sum of all sensory systems in an organism. tmpak2llvmy_mondo_relaxed.owl sense organ system owl:Class MONDO:0014252 biolink:NamedThing familial hypobetalipoproteinemia 1 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. tmpak2llvmy_mondo_relaxed.owl hypobetalipoproteinemia caused by mutation in APOB|acanthocytosis with hypobetalipoproteinemia|hypobetalipoproteinemia, familial, type 1|familial hypobetalipoproteinemia type 1|hypobetalipoproteinemia, Normotriglyceridemic|FHBL|hypobetalipoproteinemia, familial, 1|FHBL1|hypobetalipoproteinemia, familial|APOB hypobetalipoproteinemia|familial hypobetalipoproteinemia 1 MESH:C566267|GARD:0002876|SCTID:60193003|DOID:0111062|UMLS:CN182502|OMIM:615558 owl:Class GO:0042060 biolink:NamedThing wound healing The series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001028 biolink:NamedThing diaphysis of radius A diaphysis that is part of a radius bone[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl radial diaphysis|shaft of radius|body of radius|corpus radii|radial shaft owl:Class MONDO:0020736 biolink:NamedThing uncombable hair syndrome 1 tmpak2llvmy_mondo_relaxed.owl uncombable hair syndrome 1|pili trianguli Et canaliculi|UHS1|uncombable hair syndrome OMIM:191480 owl:Class HGNC:18337 biolink:NamedThing PADI3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007191 biolink:NamedThing Behcet disease A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. tmpak2llvmy_mondo_relaxed.owl Behçet syndrome|Behcet disease|triple symptom complex|Behcet's syndrome|Behcet syndrome|Behçet’s disease|Behet's syndrome|Behçet-Adamantiades syndrome|Behçet disease|silk road disease|Behçet's disease|Morbus Behçet's syndrome|Behcet's disease|Adamantiades-Behcet disease|BD|Behçet's syndrome|Bechet syndrome MedDRA:10004213|DOID:13241|SCTID:310701003|GARD:0000848|Orphanet:117|NCIT:C34416|UMLS:C0004943|MESH:D001528|EFO:0003780|OMIM:109650|ICD10:M35.2|ICD9:136.1 owl:Class HP:0000554 biolink:NamedThing Uveitis Inflammation of one or all portions of the uveal tract. tmpak2llvmy_mondo_relaxed.owl UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. human_phenotype owl:Class MONDO:0014457 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 5 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. tmpak2llvmy_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 11|GPIBD11|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|hyperphosphatasia with mental retardation syndrome 5|HPMRS5|hyperphosphatasia with intellectual disability syndrome 5|PIGW hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with mental retardation syndrome type 5|hyperphosphatasia with intellectual disability syndrome type 5 OMIM:616025|UMLS:C4014958 owl:Class HGNC:23213 biolink:NamedThing PIGW tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:57718 biolink:NamedThing barbiturate(2-) Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions. tmpak2llvmy_mondo_relaxed.owl 2,4,6-trioxo-1,3-diazinane-1,5-diide|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|barbiturate dianion owl:Class HGNC:7983 biolink:NamedThing NR5A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016867 biolink:NamedThing partial deletion of chromosome 2 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 2|partial deletion of chromosome type 2 Orphanet:261771|ICD10:Q93.5 owl:Class OBO:CHR_9606-chr2 biolink:NamedThing chr2 (Human) tmpak2llvmy_mondo_relaxed.owl 242193529 0 hg38 owl:Class MONDO:0014414 biolink:NamedThing STAT3-related early-onset multisystem autoimmune disease tmpak2llvmy_mondo_relaxed.owl autoimmune disease, multisystem, infantile-onset, 1|ADMIO|ADMIO1|autoimmune disease, multisystem, infantile-onset ICD10:M35.8|OMIM:615952|UMLS:C4014795|Orphanet:438159 owl:Class HGNC:11364 biolink:NamedThing STAT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014853 biolink:NamedThing autosomal dominant nonsyndromic deafness 70 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene. tmpak2llvmy_mondo_relaxed.owl DFNA70|autosomal dominant nonsyndromic deafness type 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|autosomal dominant deafness 70|autosomal dominant nonsyndromic deafness 70|MCM2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 70|deafness, autosomal dominant 70 ICD10:H90.3|OMIM:616968|DOID:0110592|UMLS:C4310775 owl:Class UBERON:0011233 biolink:NamedThing synovial membrane of synovial tendon sheath Synovial sac which surrounds parts of one or more tendons. Examples: synovial tendon sheath of manual digit 2, radial bursa. tmpak2llvmy_mondo_relaxed.owl synovium owl:Class MONDO:0013417 biolink:NamedThing complement component 3 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. tmpak2llvmy_mondo_relaxed.owl classic complement early component deficiency caused by mutation in C3|C3d|C3 classic complement early component deficiency|complement component 3 deficiency, autosomal recessive|C3 deficiency|C3 deficiency, autosomal recessive NCIT:C9468|UMLS:C1332655|ICD10:D84.1|DOID:8354|OMIM:613779|MESH:C565169|UMLS:C3151071|Orphanet:280133 owl:Class HGNC:1318 biolink:NamedThing C3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001394 biolink:NamedThing axillary artery Artery that supplies the axilla tmpak2llvmy_mondo_relaxed.owl axillary part of subclavian artery|axillary part of trunk of subclavian artery|arteria axillaris owl:Class HGNC:6172 biolink:NamedThing STT3A tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001143 biolink:NamedThing fungus food product A food product consisting of an edible fungi or mushroom or yeast. tmpak2llvmy_mondo_relaxed.owl http://www.asmscience.org/content/journal/microbiolspec/10.1128/microbiolspec.FUNK-0030-2016 Damion Dooley owl:Class UBERON:0004488 biolink:NamedThing musculature of pes Any collection of muscles that is part of a foot [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of muscles of foot|foot musculature|muscle group of foot|musculature of foot owl:Class UBERON:0012367 biolink:NamedThing muscle layer of intestine A muscle layer that is part of an intestine. tmpak2llvmy_mondo_relaxed.owl muscularis externa of intestine|smooth muscle of intestine|intestinal muscularis propria owl:Class MONDO:0013039 biolink:NamedThing 3M syndrome 2 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. tmpak2llvmy_mondo_relaxed.owl 3M2|three M syndrome type 2|3M syndrome 2|3-M syndrome caused by mutation in OBSL1|three M syndrome 2|OBSL1 3-M syndrome OMIM:612921|UMLS:C2752041|MESH:C567862 owl:Class HGNC:29092 biolink:NamedThing OBSL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007445 biolink:NamedThing dermatopathia pigmentosa reticularis tmpak2llvmy_mondo_relaxed.owl dermatopathia pigmentosa reticularis|DPR DOID:0111342|OMIM:125595|SCTID:239088003|Orphanet:86920|GARD:0008550|MESH:C535374|ICD10:Q82.4 https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis owl:Class HGNC:6416 biolink:NamedThing KRT14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004640 biolink:NamedThing alcoholic gastritis Inflammation of the stomach resulting from alcohol ingestion. tmpak2llvmy_mondo_relaxed.owl alcoholic gastritis, with hemorrhage|alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis ICD9:535.3|DOID:8680|NCIT:C26977|ICD9:535.30|SCTID:2043009|UMLS:C0156076|ICD10:K29.2 owl:Class MONDO:0009268 biolink:NamedThing Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. tmpak2llvmy_mondo_relaxed.owl cardiovascular Gaucher disease|Gaucher disease, type 3C|Gaucher disease, type IIIC|Gaucher-like disease|pseudo Gaucher disease|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease type 3C GARD:0002445|Orphanet:2072|MESH:C565553|OMIM:231005|UMLS:C2931585|GARD:0012504|UMLS:C1856476|ICD10:E75.2 owl:Class MONDO:0013348 biolink:NamedThing cone-rod dystrophy 15 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in CDHR1|cone-rod dystrophy 15|CORD15|CDHR1 cone-rod dystrophy|retinitis pigmentosa 65|cone-rod dystrophy type 15 UMLS:C3150912|OMIM:613660|DOID:0111021 owl:Class HGNC:14550 biolink:NamedThing CDHR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009847 biolink:NamedThing pericardial effusion, chronic Chronic form of pericardial effusion (disease). tmpak2llvmy_mondo_relaxed.owl cholesterol pericarditis|pericardial effusion, chronic|pericardial effusion (disease), chronic|chronic pericardial effusion (disease) MESH:C564895|UMLS:C1850039|OMIM:260900 owl:Class MONDO:0022874 biolink:NamedThing corpus callosum dysgenesis hypopituitarism tmpak2llvmy_mondo_relaxed.owl GARD:0001542 https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism owl:Class GO:0051174 biolink:NamedThing regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpak2llvmy_mondo_relaxed.owl regulation of phosphorus metabolism owl:Class GO:0006793 biolink:NamedThing phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). tmpak2llvmy_mondo_relaxed.owl phosphorus metabolism owl:Class MONDO:0002944 biolink:NamedThing external ear carcinoma A carcinoma that arises from epithelial cells of the external ear tmpak2llvmy_mondo_relaxed.owl carcinoma of the external ear|external Ear carcinoma|carcinoma of external Ear|external ear carcinoma|carcinoma of the external Ear|carcinoma of external ear UMLS:C1333492|NCIT:C6081|DOID:4288 owl:Class MONDO:0010561 biolink:NamedThing Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. tmpak2llvmy_mondo_relaxed.owl COFFIN-Lowry syndrome|CLS|intellectual disability with osteocartilaginous abnormalities|Coffin syndrome|dwarfism, lean spastic type|lean spastic dwarfism|Coffin-Lowry syndrome|mental retardation with osteocartilaginous abnormalities|Coffin syndrome 1 MESH:C536435|MESH:D038921|GARD:0006123|DOID:3783|ICD9:759.89|SCTID:15182000|UMLS:C0265252|Orphanet:192|NCIT:C84643|ICD10:Q87.0|GARD:0008589|OMIM:303600 https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1|https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome owl:Class HGNC:10432 biolink:NamedThing RPS6KA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013690 biolink:NamedThing Pitt-Hopkins-like syndrome 2 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. tmpak2llvmy_mondo_relaxed.owl PTHSL2|Pitt-Hopkins-like syndrome type 2|Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|NRXN1 Pitt-Hopkins-like syndrome OMIM:614325|DOID:0111332|UMLS:C3280479 owl:Class HGNC:8008 biolink:NamedThing NRXN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002956 biolink:NamedThing granular layer of cerebellar cortex The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer. tmpak2llvmy_mondo_relaxed.owl cerebellar granule cell layer|stratum granulosum cerebelli|cerebellum granule layer|stratum granulosum corticis cerebelli|cerebellar granular layer|cerebellar granule layer|cerebellum granule cell layer|granular layer of cerebellum|granule cell layer of cerebellar cortex owl:Class CL:0001031 biolink:NamedThing cerebellar granule cell Granule cell that is part of the cerebellum. tmpak2llvmy_mondo_relaxed.owl BTO:0004278 cell owl:Class HsapDv:0000134 biolink:NamedThing 40-year-old human stage Adult stage that refers to an adult who is over 40 and under 41. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23987 biolink:NamedThing NDUFA12 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003921 biolink:NamedThing pancreas primordium embryonic structure that develops into pancreatic bud. tmpak2llvmy_mondo_relaxed.owl primordial pancreas|pancreatic primordium|pancreatic anlage|pancreatic endoderm owl:Class MONDO:0023554 biolink:NamedThing acquired testicular failure Testicular failure, the cause of which is not present at birth. tmpak2llvmy_mondo_relaxed.owl Acquired testicular failure|acquired testicular failure|Acquired Testicular Failure NCIT:C131091|SCTID:236811002|UMLS:C0403818 owl:Class UBERON:0014395 biolink:NamedThing proximal mesopodial bone A proximal mesopodial endochondral element that is composed primarily of a bone tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0017751 biolink:NamedThing proximal mesopodial cartilage element A proximal mesopodial endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014749 biolink:NamedThing tooth agenesis, selective, 7 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. tmpak2llvmy_mondo_relaxed.owl tooth agenesis caused by mutation in LRP6|tooth agenesis, selective, 7|LRP6 tooth agenesis|tooth agenesis, selective, type 7|tooth agenesis, selective, 7; STHAG7|STHAG7 OMIM:616724|UMLS:C4225231 owl:Class HGNC:6698 biolink:NamedThing LRP6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008798 biolink:NamedThing nonsyndromic congenital nail disorder 4 Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. tmpak2llvmy_mondo_relaxed.owl NDNC4|nail disorder, nonsyndromic congenital, 4|anonychia congenita totalis|nonsyndromic congenital nail disorder 4|isolated congenital anonychia caused by mutation in RSPO4|anonychia congenita|RSPO4 isolated congenital anonychia|anonychia totalis|anonychia/hyponychia congenita|nail disorder, nonsyndromic congenital, type 4|HYPONYCHIA congenita|nonsyndromic congenital nail disorder type 4 DOID:0080082|OMIM:206800|ICD10:Q84.3|DOID:0050643|Orphanet:94150|MESH:C536377 owl:Class HGNC:16175 biolink:NamedThing RSPO4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016656 biolink:NamedThing 7q31 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 7q31|Del(7)(q31) ICD10:Q93.5|Orphanet:251061|UMLS:CN201886 owl:Class OBO:CHR_9606-chr7q31 biolink:NamedThing chr7q31 (Human) tmpak2llvmy_mondo_relaxed.owl 127500000 107800000 hg38 owl:Class GO:1903788 biolink:NamedThing positive regulation of glutathione biosynthetic process Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process. tmpak2llvmy_mondo_relaxed.owl activation of glutathione anabolism|upregulation of glutathione anabolism|positive regulation of glutathione anabolism|up regulation of glutathione biosynthesis|up-regulation of glutathione biosynthesis|up regulation of glutathione anabolism|up-regulation of glutathione synthesis|upregulation of glutathione synthesis|up regulation of glutathione biosynthetic process|positive regulation of glutathione biosynthesis|activation of glutathione formation|up-regulation of glutathione anabolism|positive regulation of glutathione formation|upregulation of glutathione biosynthetic process|upregulation of glutathione biosynthesis|up regulation of glutathione synthesis|up regulation of glutathione formation|activation of glutathione biosynthetic process|up-regulation of glutathione biosynthetic process|activation of glutathione synthesis|positive regulation of glutathione synthesis|upregulation of glutathione formation|activation of glutathione biosynthesis|up-regulation of glutathione formation owl:Class MONDO:0013314 biolink:NamedThing retinitis pigmentosa 56 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 56|maculopathy, Impg2-related|retinitis pigmentosa type 56|IMPG2 retinitis pigmentosa|RP56|retinitis pigmentosa caused by mutation in IMPG2 OMIM:613581|UMLS:C3150819|ICD10:H35.5|DOID:0110371 owl:Class MONDO:0034103 biolink:NamedThing infection-related hemolytic uremic syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:544482 owl:Class CHEBI:15740 biolink:NamedThing formate A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. tmpak2llvmy_mondo_relaxed.owl HCO2 anion|formylate|formate|methanoate|formic acid, ion(1-)|hydrogen carboxylate|formiate|aminate owl:Class UBERON:0005409 biolink:NamedThing alimentary part of gastrointestinal system The part of the digestive system that excludes the hepatobiliary system. tmpak2llvmy_mondo_relaxed.owl gastrointestinal system|GI tract|alimentary system|gastrointestinal (GI) tract|gastrointestinal tract|gastroenterological system|alimentary tract|gastro-intestinal system owl:Class UBERON:0013505 biolink:NamedThing cervical vertebra cartilage element A cervical vertebra endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl cervical vertebral cartilage condensation group owl:Class UBERON:0013506 biolink:NamedThing cervical vertebra pre-cartilage condensation A cervical vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000234 biolink:NamedThing Rickettsia parkeri spotted fever A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. tmpak2llvmy_mondo_relaxed.owl maculatum infection DOID:0050051 owl:Class NCBITaxon:35792 biolink:NamedThing Rickettsia parkeri tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0044663 biolink:NamedThing aquagenic palmoplantar keratoderma Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis. tmpak2llvmy_mondo_relaxed.owl Transient reactive papulotranslucent acrokeratoderma|aquagenic wrinkling of the palms|transient reactive papulotranslucent acrokeratoderma|aquagenic palmoplantar keratoderma|aquagenic keratoderma|aquagenic wrinkling of the hands|aquagenic syringeal acrokeratoderma GARD:0012991|Orphanet:498359 owl:Class ECTO:9000156 biolink:NamedThing exposure to water An exposure to water. tmpak2llvmy_mondo_relaxed.owl exposure to water owl:Class MONDO:0007566 biolink:NamedThing multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. tmpak2llvmy_mondo_relaxed.owl Ferguson-Smith type epithelioma|multiple self-healing epithelioma of Ferguson-Smith|multiple self healing squamous epithelioma|multiple keratoacanthoma, Ferguson-Smith type|multiple self-healing squamous epithelioma|Ferguson-Smith-type epithelioma|ESS1|multiple self healing epithelioma of Ferguson-Smith|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|Ferguson-Smith disease|multiple self-healing squamous epithelioma, susceptibility to|Ferguson-Smith tumor|ESS1, formerly|ESS1 (formerly)|self-healing squamous epithelioma type 1|MSSE ICD10:C44.3|NCIT:C4461|OMIM:132800|Orphanet:65748|SCTID:254659009|UMLS:C0345982|MESH:C536150|GARD:0003090|ICD10:C44.6|ICD10:C44.7|DOID:5585 https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma owl:Class MONDO:0002527 biolink:NamedThing keratoacanthoma A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. tmpak2llvmy_mondo_relaxed.owl NCIT:C3146|ICDO:8071/1|MESH:D007636|DOID:3149|UMLS:C0022572|SCTID:254662007 owl:Class MONDO:0020746 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome 1B tmpak2llvmy_mondo_relaxed.owl OMIM:618469 owl:Class GO:0045827 biolink:NamedThing negative regulation of isoprenoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpak2llvmy_mondo_relaxed.owl negative regulation of isoprenoid metabolism|inhibition of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|down regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process owl:Class GO:0006720 biolink:NamedThing isoprenoid metabolic process The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. tmpak2llvmy_mondo_relaxed.owl polyterpene metabolism|polyisoprenoid metabolic process|polyterpene metabolic process|polyisoprenoid metabolism|isoprenoid metabolism owl:Class HGNC:18674 biolink:NamedThing DDX41 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050909 biolink:NamedThing sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl taste|taste perception|gustation|sense of taste owl:Class MONDO:0014594 biolink:NamedThing autosomal dominant nonsyndromic deafness 67 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 67|deafness, autosomal dominant 67|OSBPL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|autosomal dominant deafness 67|DFNA67|autosomal dominant nonsyndromic deafness type 67 OMIM:616340|UMLS:C4084712|ICD10:H90.3|DOID:0110588 owl:Class HGNC:15761 biolink:NamedThing OSBPL2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010557 biolink:NamedThing positive regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050679 biolink:NamedThing positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation. tmpak2llvmy_mondo_relaxed.owl up regulation of epithelial cell proliferation|up-regulation of epithelial cell proliferation|stimulation of epithelial cell proliferation|upregulation of epithelial cell proliferation|activation of epithelial cell proliferation owl:Class GO:0050673 biolink:NamedThing epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002338 biolink:NamedThing lamina propria of bronchus A lamina propria that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchi lamina propria mucosae|bronchi lamina propria mucosa|bronchi lamina propria|lamina propria mucosae of bronchus|bronchial lamina propria|lamina propria mucosa of bronchus|bronchial trunk lamina propria mucosae|lamina propria of bronchi|lamina propria mucosa of bronchi|lamina propria mucosa of bronchial trunk|bronchus lamina propria|lamina propria mucosae of bronchi|bronchus lamina propria mucosae|lamina propria of bronchial trunk|bronchial trunk lamina propria mucosa|bronchial trunk lamina propria|lamina propria mucosae of bronchial trunk|bronchus lamina propria mucosa owl:Class MONDO:0009365 biolink:NamedThing hydrolethalus syndrome 1 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. tmpak2llvmy_mondo_relaxed.owl hydrolethalus syndrome type 1|hydrolethalus syndrome 1|hydrolethalus syndrome caused by mutation in HYLS1|HYLS1 hydrolethalus syndrome|HLS1 MESH:C565504|DOID:0111355|UMLS:C1856016|OMIM:236680 owl:Class HGNC:26558 biolink:NamedThing HYLS1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11308 biolink:NamedThing Orthomyxoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002811 biolink:NamedThing left frontal lobe A frontal cortex that is part of a left cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011118 biolink:NamedThing tarsometatarsal joint The tarsometatarsal articulations are arthrodial joints in the pes. tmpak2llvmy_mondo_relaxed.owl tarsometatarsal articulation|articulationes tarsometatarsales|tarso-metatarsal join|tarsometatarsal|Lisfranc joint|cuboideometatarsal owl:Class UBERON:0001447 biolink:NamedThing tarsal bone A bone that is part of the tarsal skeleton. Examples: calcaneus, talus, centralia. tmpak2llvmy_mondo_relaxed.owl ossa tarsi|tarsus osseus|ossa tarsalia|tarsal|bone of ankle|bone of tarsus|ankle bone|hind mesopodium|bony tarsus|bone of tarsal skeleton owl:Class MONDO:0014110 biolink:NamedThing cataract 15 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene. tmpak2llvmy_mondo_relaxed.owl MIP early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in MIP|CTRCT15|cataract 15, multiple types UMLS:C3809001|DOID:0110251|ICD10:Q12.0|OMIM:615274 owl:Class UBERON:0003829 biolink:NamedThing urethra muscle tissue Any muscle tissue that is part of the urethra. tmpak2llvmy_mondo_relaxed.owl urethral muscle layer owl:Class GO:0042445 biolink:NamedThing hormone metabolic process The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpak2llvmy_mondo_relaxed.owl hormone metabolism owl:Class MONDO:0016535 biolink:NamedThing hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia 1, Anhydrotic|anhidrotic ectodermal dysplasia 1|anhidrotic ectodermal dysplasia 3|anhidrotic ectodermal dysplasia|ectodermal dysplasia, hypohidrotic|hypohidrotic X-linked ectodermal dysplasia|CST syndrome|HED|EDA|ectodermal dysplasia anhidrotic HP:0007607|DOID:14793|Orphanet:238468|SCTID:239007005|ICD10:Q82.4|NCIT:C84562|GARD:0000076 DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic owl:Class GO:0071696 biolink:NamedThing ectodermal placode development The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:140503 biolink:NamedThing kaolin An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products. tmpak2llvmy_mondo_relaxed.owl white bole|China clay|porcelain clay|Bolus alba|argilla owl:Class CHEBI:75324 biolink:NamedThing excipient A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication. tmpak2llvmy_mondo_relaxed.owl fillers|filler|bulking agents|bulking agent|excipient owl:Class MONDO:0012225 biolink:NamedThing Senior-Loken syndrome 5 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. tmpak2llvmy_mondo_relaxed.owl IQCB1 Senior-Loken syndrome|SENIOR-Loken syndrome 5|Senior-Loken syndrome caused by mutation in IQCB1|Senior-Loken syndrome type 5|SLSN5|Senior-Loken syndrome 5 OMIM:609254|MESH:C563763|UMLS:C1836517 owl:Class HGNC:28949 biolink:NamedThing IQCB1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:8287 biolink:NamedThing Sarcopterygii tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004422 biolink:NamedThing proximal epiphysis of first metacarpal bone A proximal epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl first metacarpal bone base|proximal epiphysis of metacarpal 1|base of first metacarpal bone owl:Class UBERON:0003645 biolink:NamedThing metacarpal bone of digit 1 A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 1. tmpak2llvmy_mondo_relaxed.owl hand digit 1 metacarpal|first digit of hand metacarpal|metacarpal 1|manual digit 1 metacarpus|metacarpal of first digit of hand|metacarpal bone of hand digit 1|metacarpal bone digit 1|thumb metacarpal bone|metacarpal bone of first digit of hand|metacarpal of hand digit 1|first digit of hand metacarpal bone|forelimb digit 1 metacarpus|hand digit 1 metacarpal bone|finger 1 metacarpus|metacarpal bone of digit I|metacarpal bone of thumb|metacarpal of thumb|first metacarpal bone|thumb metacarpal|metacarpal I owl:Class GO:0070278 biolink:NamedThing extracellular matrix constituent secretion The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. tmpak2llvmy_mondo_relaxed.owl ECM secretion|ECM constituent secretion owl:Class MONDO:0014267 biolink:NamedThing severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 15|IMD15|immunodeficiency 15|SCID due to IKK2 deficiency OMIM:615592|Orphanet:397787|UMLS:C3810043|ICD10:D81.2 owl:Class HGNC:5960 biolink:NamedThing IKBKB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007186 biolink:NamedThing gastroesophageal reflux disease A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. tmpak2llvmy_mondo_relaxed.owl acid reflux|GERD|Gastresophageal reflux|gastroesophageal reflux disease|GERD - gastro-esophageal reflux disease|ger|gastroesophageal reflux|gastroesophageal reflux, pediatric|gastro-esophageal reflux UMLS:C0017168|ICD9:530.81|SCTID:235595009|MESH:D005764|ICD10:K21.9|DOID:8534|ICD10:K21|OMIM:109350|EFO:0003948|NCIT:C26781 owl:Class MONDO:0003901 biolink:NamedThing cerebellar hemangioblastoma A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). tmpak2llvmy_mondo_relaxed.owl hemangioblastoma of the cerebellum|angioblastoma of the cerebellum|cerebellum hemangioblastoma|cerebellar capillary hemangioblastoma|cerebellar angioblastoma|angioblastoma of cerebellum|hemangioblastoma of cerebellum|cerebellar hemangioblastoma DOID:6500|UMLS:C1332900|NCIT:C5146 owl:Class CL:2000027 biolink:NamedThing cerebellum basket cell Any basket cell that is part of a cerebellum. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T00:24:03Z cell owl:Class UBERON:0004016 biolink:NamedThing dermatome A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. tmpak2llvmy_mondo_relaxed.owl epimere mesoderm|dermatomal mesenchyme|mesenchyma dermatomiale|cutis plate owl:Class GO:0045914 biolink:NamedThing negative regulation of catecholamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpak2llvmy_mondo_relaxed.owl downregulation of catecholamine metabolic process|down-regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|down regulation of catecholamine metabolic process|inhibition of catecholamine metabolic process owl:Class MONDO:0013985 biolink:NamedThing autosomal recessive nonsyndromic deafness 18B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. tmpak2llvmy_mondo_relaxed.owl DFNB18B|autosomal recessive nonsyndromic deafness type 18B|autosomal recessive nonsyndromic deafness 18B|deafness, autosomal recessive type 18B|deafness, autosomal recessive 18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG|autosomal recessive deafness 18B|OTOG autosomal recessive nonsyndromic deafness OMIM:614945|ICD10:H90.3|UMLS:C3554163|DOID:0110474 owl:Class HGNC:8516 biolink:NamedThing OTOG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012480 biolink:NamedThing diabetes mellitus, transient neonatal, 2 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. tmpak2llvmy_mondo_relaxed.owl transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|ABCC8 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, 2|Tndm2|diabetes mellitus, transient neonatal, type 2 MESH:C563672|SCTID:609580007|OMIM:610374|UMLS:C1835887 owl:Class MONDO:0013534 biolink:NamedThing apolipoprotein c-III deficiency tmpak2llvmy_mondo_relaxed.owl apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2 MESH:C566270|OMIM:614028|UMLS:C3151467|DOID:0111370 owl:Class HGNC:610 biolink:NamedThing APOC3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005983 biolink:NamedThing heart layer The laminar structure of the heart tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001593 biolink:NamedThing venous plexus A congregation of multiple veins. tmpak2llvmy_mondo_relaxed.owl venous network|rete venosum|plexus venosus owl:Class MONDO:0011672 biolink:NamedThing persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. tmpak2llvmy_mondo_relaxed.owl persistent polyclonal B-cell lymphocytosis|persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|PPBL UMLS:C1847973|SCTID:763864008|MESH:C564707|ICD10:I72.8|Orphanet:300324|OMIM:606445 owl:Class HGNC:16393 biolink:NamedThing CARD11 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002052 biolink:NamedThing Fraction D precursor B cell A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive. tmpak2llvmy_mondo_relaxed.owl Fraction D pre-B cell|Fr. D Fraction D precursor B cells are also reportedly CD24-positive and sIgD-negative. tmeehan 2010-04-28T02:55:16Z cell owl:Class MONDO:0021487 biolink:NamedThing benign neoplasm of choroid A benign neoplasm that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the choroid|optic choroid benign neoplasm|benign choroid neoplasm|benign tumor of choroid|benign choroid tumor|benign tumor of the choroid SCTID:92059004|NCIT:C3625|UMLS:C0154028|ICD9:224.6 owl:Class GO:0071829 biolink:NamedThing plasma lipoprotein particle disassembly The disaggregation of a plasma lipoprotein particle into its constituent components. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002606 biolink:NamedThing astrocyte of the spinal cord An astrocyte of the spinal cord. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T07:11:26Z cell owl:Class UBERON:0001816 biolink:NamedThing autonomic nerve plexus A nerve plexus that is part of an autonomic nervous system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl plexus autonomicus|visceral plexus|visceral nerve plexus|autonomic plexus|plexus visceralis|plexus nervosus visceralis owl:Class UBERON:0002410 biolink:NamedThing autonomic nervous system The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO]. tmpak2llvmy_mondo_relaxed.owl visceral nervous system|autonomic part of peripheral nervous system|peripheral autonomic nervous system|pars autonomica systematis nervosi peripherici|divisio autonomica systematis nervosi peripherici|ANS|autonomic division of peripheral nervous system owl:Class MONDO:0009736 biolink:NamedThing Neu-Laxova syndrome 1 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. tmpak2llvmy_mondo_relaxed.owl NLS1|Neu-Laxova syndrome|Neu-Laxova syndrome caused by mutation in PHGDH|PHGDH Neu-Laxova syndrome|Neu-Laxova syndrome 1|3-Phosphoglycerate dehydrogenase deficiency, neonatal form|Neu-Laxova syndrome type 1 DOID:0080076|UMLS:CN032230|OMIM:256520|ICD10:Q87.8 owl:Class HGNC:8923 biolink:NamedThing PHGDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010863 biolink:NamedThing type 1 diabetes mellitus 5 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 5|SUMO4 type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 5|type 1 diabetes mellitus caused by mutation in SUMO4|IDDM5|insulin-dependent diabetes mellitus 5 ICD10:E10|MESH:C563958|UMLS:C1838260|OMIM:600320|DOID:0110744 owl:Class HGNC:21181 biolink:NamedThing SUMO4 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4p16.3 biolink:NamedThing chr4p16.3 (Human) tmpak2llvmy_mondo_relaxed.owl 4500000 0 hg38 owl:Class UBERON:0016612 biolink:NamedThing auditory hillocks, pharyngeal arch 2 derived A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003066 biolink:NamedThing pharyngeal arch 2 The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. tmpak2llvmy_mondo_relaxed.owl pharyngeal arches 2|hyoid arch|second pharyngeal arch|pharyngeal arch 2|2nd arch|2nd visceral arch|second visceral arch|arcus pharyngeus secundus|2nd pharyngeal arch|visceral arch 2|second branchial arch|branchial arch 2|hyoid bars owl:Class MONDO:0007000 biolink:NamedThing Treponema infectious disease An disease caused by infection with Treponema. tmpak2llvmy_mondo_relaxed.owl infection, Treponemal|bejel|infections, Treponemal|Treponemal infection|Treponema disease or disorder|Treponema caused disease or disorder|Bejels GARD:0007798|NCIT:C85197|EFO:1001217|MESH:D014211 owl:Class NCBITaxon:157 biolink:NamedThing Treponema tmpak2llvmy_mondo_relaxed.owl "Spironema" Vuillemin 1905|Microspironema PMID:9019153|PMID:23961314|GC_ID:11|PMID:9734025 ncbi_taxonomy owl:Class UBERON:0002368 biolink:NamedThing endocrine gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. tmpak2llvmy_mondo_relaxed.owl ductless gland|glandula endocrina|glandulae endocrinae owl:Class MONDO:0013926 biolink:NamedThing hypogonadotropic hypogonadism 14 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. tmpak2llvmy_mondo_relaxed.owl WDR11 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in WDR11|HH14|hypogonadotropic hypogonadism 14 with or without anosmia DOID:0090087|ICD10:E23.0|UMLS:C3540450|OMIM:614858 owl:Class HGNC:13831 biolink:NamedThing WDR11 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8996 biolink:NamedThing PIP5K1C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020781 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 tmpak2llvmy_mondo_relaxed.owl NAD(P)HX epimerase deficiency|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1|PEBEL1 Orphanet:555407|OMIM:617186|EFO:0009158 owl:Class GO:0052856 biolink:NamedThing NADHX epimerase activity Catalysis of the reaction: (R)-NADHX = (S)-NADHX. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003996 biolink:NamedThing basal ganglia disease A disease involving the basal ganglia. tmpak2llvmy_mondo_relaxed.owl disease or disorder of collection of basal ganglia|disease of basal ganglia|disease of collection of basal ganglia|basal ganglia disease|disorder of collection of basal ganglia|collection of basal ganglia disease|collection of basal ganglia disease or disorder|disorder of basal ganglia UMLS:C0004782|DOID:679|CSP:2057-3403|MESH:D001480|ICD9:333.0|SCTID:70835005 owl:Class MONDO:0013117 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. tmpak2llvmy_mondo_relaxed.owl PEOA5|progressive external ophthalmoplegia, autosomal dominant 5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MESH:C567768|UMLS:C2751319|OMIM:613077|DOID:0111518 owl:Class HGNC:17296 biolink:NamedThing RRM2B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013472 biolink:NamedThing upper esophagus The upper one third of esophagus in which the muscle layer is composed of muscle cells of the striated type. tmpak2llvmy_mondo_relaxed.owl proximal part of esophagus|upper third of esophagus owl:Class MONDO:0010338 biolink:NamedThing X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy, distal, X-linked type 3|X-linked distal hereditary motor neuropathy type 3|X-linked dSMA3|DSMAX|spinal muscular atrophy, distal, X-linked recessive|X-linked dHMN type 3|X-linked dHMN3|ATP7A spinal muscular atrophy|spinal muscular atrophy, distal, X-linked 3|SMAX3|ATP7A-related distal motor neuropathy|spinal muscular atrophy caused by mutation in ATP7A|Dsmax|X-linked dSMA type 3 UMLS:C1845359|SCTID:766764008|DOID:0111196|OMIM:300489|ICD10:G12.2|Orphanet:139557|MESH:C564506 owl:Class UBERON:0005995 biolink:NamedThing mitral valve anulus The fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps tmpak2llvmy_mondo_relaxed.owl fibrous ring of mitral valve|mitral annulus|mitral anulus|mitral valvar anulus|anulus of mitral valve owl:Class GO:0070859 biolink:NamedThing positive regulation of bile acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpak2llvmy_mondo_relaxed.owl up-regulation of bile acid biosynthetic process|stimulation of bile acid biosynthetic process|activation of bile acid biosynthetic process|upregulation of bile acid biosynthetic process|positive regulation of bile acid biosynthesis|positive regulation of bile acid synthesis|up regulation of bile acid biosynthetic process|positive regulation of bile acid anabolism|positive regulation of bile acid formation owl:Class MONDO:0003539 biolink:NamedThing T-cell adult acute lymphocytic leukemia An acute T-lymphoblastic leukemia occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult T acute lymphoblastic leukemia|T cell adult ALL|acute Adult T-cell Leukemia-lymphoma|adult T-cell acute lymphoblastic leukemia|T-cell adult ALL|adult acute lymphoblastic leukemia of T cell|T Acute Lymphoblastic Leukemia|T cell adult acute lymphocytic leukemia|adult precursor T lymphoblastic leukemia|adult precursor T-lymphoblastic leukemia|T cell adult acute lymphoblastic leukemia NCIT:C9142|DOID:5602|UMLS:C0279592|EFO:1001936 owl:Class UBERON:0003489 biolink:NamedThing respiratory system capillary endothelium An endothelium of capillary that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl respiratory system blood capillary endothelium|respiratory system endothelium of capillary|capillary endothelium of respiratory system|respiratory system endothelium of blood capillary|blood capillary endothelium of apparatus respiratorius|endothelium of capillary vessel of respiratory system|capillary vessel endothelium of respiratory system|apparatus respiratorius blood capillary endothelium|endothelium of capillary of apparatus respiratorius|endothelium of capillary of respiratory system|respiratory system capillary vessel endothelium|apparatus respiratorius endothelium of capillary|capillary endothelium of apparatus respiratorius|apparatus respiratorius capillary vessel endothelium|capillary vessel endothelium of apparatus respiratorius|apparatus respiratorius capillary endothelium|blood capillary endothelium of respiratory system|endothelium of blood capillary of respiratory system|endothelium of capillary vessel of apparatus respiratorius|apparatus respiratorius endothelium of capillary vessel|endothelium of blood capillary of apparatus respiratorius|apparatus respiratorius endothelium of blood capillary|respiratory system endothelium of capillary vessel owl:Class MONDO:0013674 biolink:NamedThing neurodegeneration with brain iron accumulation 4 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. tmpak2llvmy_mondo_relaxed.owl neurodegeneration with brain iron accumulation type 4|C19orf12 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 4|MPAN|neurodegeneration with brain iron accumulation due to C19orf12 mutation|NBIA due to C19orf12 mutation|mitochondrial Protein-associated neurodegeneration|neurodegeneration with brain iron accumulation caused by mutation in C19orf12|mitochondrial membrane protein-associated neurodegeneration|NBIA4 SCTID:709415008|UMLS:C3280371|Orphanet:289560|ICD10:G23.0|DOID:0110738|GARD:0012569|ICD9:333.0|OMIM:614298 owl:Class HGNC:25443 biolink:NamedThing C19orf12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003345 biolink:NamedThing hilar cholangiocarcinoma A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts. tmpak2llvmy_mondo_relaxed.owl perihilar cholangiocarcinoma|Klatskin tumor|perihilar extrahepatic bile duct carcinoma|cholangiocarcinoma of hilar portion of hepatic duct|hilar cholangiocarcinoma|Klatskin's tumor|hilar portion of hepatic duct cholangiocarcinoma|hilar cholangiocellular carcinoma|hilar CC|hilar CCA UMLS:C0206702|SCTID:253017000|Orphanet:99978|MESH:D018285|EFO:1001005|DOID:5246|NCIT:C36077|ICD10:C24.0|GARD:0010175|DOID:4927 https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor owl:Class UBERON:0015423 biolink:NamedThing hilar portion of hepatic duct The segment of either hepatic duct located in the hilum of the liver. tmpak2llvmy_mondo_relaxed.owl hilar part of hepatic duct owl:Class UBERON:0007278 biolink:NamedThing presumptive sinus venosus Portion of tissue that is part of the heart tube and will become the sinus venosus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001041 biolink:NamedThing foregut Anterior subdivision of a digestive tract. tmpak2llvmy_mondo_relaxed.owl praeenteron|proenteron owl:Class MONDO:0001721 biolink:NamedThing urethral intrinsic sphincter deficiency tmpak2llvmy_mondo_relaxed.owl intrinsic (urethral) sphincter deficiency [ISD] UMLS:C0375381|ICD10:N36.42|ICD9:599.82|DOID:13461 owl:Class UBERON:0004917 biolink:NamedThing urethral sphincter A sphincter muscle surrounding the urethra. tmpak2llvmy_mondo_relaxed.owl sphincter urethrae|sphincter of urethra|sphincter muscle of urethra|urethral sphincter muscle owl:Class UBERON:0035545 biolink:NamedThing deep lymphatic vessel The tubules that carry lymph throughout the body that are in the interior of the body or limbs. tmpak2llvmy_mondo_relaxed.owl deep lymph vessel owl:Class UBERON:8400023 biolink:NamedThing liver subserosa Subserosal tissue of liver. A zone of areolar connective tissue lying beneath the serous coat of the liver and distinguished with difficulty from the fibrous capsule of Glisson. tmpak2llvmy_mondo_relaxed.owl subserosal tissue of liver|tela subserosa (hepar)|tela subserosa hepatis|hepatic subserosa|subserous layer of liver owl:Class MONDO:0014438 biolink:NamedThing Bardet-Biedl syndrome 10 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in BBS10|Bardet-Biedl syndrome 10|Bardet-Biedl syndrome type 10|BBS10 Bardet-Biedl syndrome|BBS10 GARD:0010209|EFO:0009022|OMIM:615987|DOID:0110132|MESH:C565919|ICD10:Q87.89|UMLS:C1859568 owl:Class UBERON:0009042 biolink:NamedThing prostatic venous plexus The prostatic veins form a well-marked prostatic plexus which lies partly in the fascial sheath of the prostate and partly between the sheath and the prostatic capsule. It communicates with the pudendal and vesical plexuses. tmpak2llvmy_mondo_relaxed.owl pudendal venous plexus|plexus venosus prostaticus owl:Class UBERON:0010365 biolink:NamedThing odontoid tissue Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. tmpak2llvmy_mondo_relaxed.owl odontogenic tissue|substance of tooth|portion of substance of tooth|tooth hard tissue|dental tissue|tooth substance|tooth tissue owl:Class UBERON:0008345 biolink:NamedThing ileal epithelium An epithelium that is part of a ileum. tmpak2llvmy_mondo_relaxed.owl epithelium of ileum owl:Class UBERON:0002293 biolink:NamedThing costochondral joint A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum . tmpak2llvmy_mondo_relaxed.owl articulatio costochondralis|costochondral synchondrosis|chondrocostal synchondrosis|articulationes costochondrales|costochondral junction owl:Class UBERON:0002236 biolink:NamedThing costal cartilage the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it tmpak2llvmy_mondo_relaxed.owl cartilago costalis|sternal cartilage|cartilagines costales owl:Class UBERON:0004130 biolink:NamedThing cerebellar layer A cortical cell layer of the cerebellum. Examples: the granular (inner+outer) layer, molecular layer, Purkinje cell layer, and the ventricular layer of the embryo. tmpak2llvmy_mondo_relaxed.owl gray matter layer of cerebellum|layer of cerebellum|layer of cerebellar cortex|cytoarchitectural part of the cerebellar cortex|cell layer of cerebellar cortex owl:Class OBO:CHR_9606-chr12q biolink:NamedThing chr12q (Human) tmpak2llvmy_mondo_relaxed.owl 133275309 35500000 hg38 owl:Class UBERON:0002193 biolink:NamedThing hemolymphoid system Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. tmpak2llvmy_mondo_relaxed.owl lymphomyeloid complex|haemolymphoid system|hematolymphoid system owl:Class UBERON:0004357 biolink:NamedThing paired limb/fin bud An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. tmpak2llvmy_mondo_relaxed.owl paired limb/fin bud|limb - fin bud|paired appendage bud owl:Class UBERON:0009633 biolink:NamedThing root of sacral nerve A spinal nerve root that is part of a sacral nerve. tmpak2llvmy_mondo_relaxed.owl sacral neural root|root of sacral spinal nerve|nerve root part of sacral spinal cord owl:Class UBERON:0009625 biolink:NamedThing sacral nerve The five sacral nerves emerge from the sacrum. Although the vertebral components of the sacrum are fused into a single bone, the sacral vertebrae are still used to number the sacral nerves. Posteriorly, they emerge from the posterior sacral foramina, and form the posterior branches of sacral nerves. Anteriorly, they emerge from the anterior sacral foramina, and contribute to the sacral plexus (S1-S4) and coccygeal plexus. tmpak2llvmy_mondo_relaxed.owl sacral spinal nerve|nervus sacralis|nervi sacrales owl:Class MONDO:0011714 biolink:NamedThing partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome tmpak2llvmy_mondo_relaxed.owl LCCNS|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|lipodystrophy, partial, with congenital cataracts and neurodegeneration OMIM:606721|UMLS:C3807567 owl:Class HGNC:1527 biolink:NamedThing CAV1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011326 biolink:NamedThing citrullinemia, type II, adult-onset Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. tmpak2llvmy_mondo_relaxed.owl citrullinemia, type II, adult-onset|citrin deficiency|citrullinemia type 2|CTLN2|adult-onset citrullinemia type II|citrullinemia type II|citrullinemia, type II, ADULT-onset|adult-onset citrullinemia type 2 GARD:0010215|OMIM:603471|DOID:0070342 TODO - merge into parent https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii owl:Class HGNC:10983 biolink:NamedThing SLC25A13 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032274 biolink:NamedThing gonadotropin secretion The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. tmpak2llvmy_mondo_relaxed.owl gonadotrophin secretion owl:Class UBERON:0002146 biolink:NamedThing pulmonary valve the semilunar valve of the heart that lies between the right ventricle and the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl valva trunci pulmonalis|pulmonic valve owl:Class GO:0048667 biolink:NamedThing cell morphogenesis involved in neuron differentiation The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. tmpak2llvmy_mondo_relaxed.owl neuron morphogenesis involved in differentiation owl:Class MONDO:0013372 biolink:NamedThing long QT syndrome 5 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpak2llvmy_mondo_relaxed.owl KCNE1 long QT syndrome|long QT syndrome 5|LQT5|long QT syndrome 5, acquired, susceptibility to|long QT syndrome 2/5, digenic|long QT syndrome caused by mutation in KCNE1|long QT syndrome type 5 ICD10:I45.8|GARD:0010433|DOID:0110647|OMIM:613695|HGNC:6240|UMLS:C1867904|MESH:C566766 https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 owl:Class MONDO:0014300 biolink:NamedThing proximal myopathy with extrapyramidal signs Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. tmpak2llvmy_mondo_relaxed.owl myopathy with extrapyramidal signs|MPXPS OMIM:615673|DOID:0111335|ICD10:G71.3|UMLS:C3810285|GARD:0012978|Orphanet:401768 owl:Class HGNC:1530 biolink:NamedThing MICU1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006957 biolink:NamedThing submandibular gland primordium epithelium An epithelium that is part of a submandibular gland primordium. tmpak2llvmy_mondo_relaxed.owl submaxillary gland primordium epithelium owl:Class MONDO:0000664 biolink:NamedThing apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. tmpak2llvmy_mondo_relaxed.owl DOID:0060134 owl:Class GO:0007632 biolink:NamedThing visual behavior The behavior of an organism in response to a visual stimulus. tmpak2llvmy_mondo_relaxed.owl visual behaviour|behavioral response to visual stimulus|behavioural response to visual stimulus owl:Class ECTO:9000433 biolink:NamedThing exposure to polycyclic arene An exposure to polycyclic arene. tmpak2llvmy_mondo_relaxed.owl exposure to polycyclic arene owl:Class MONDO:0018007 biolink:NamedThing mosaic genome-wide paternal uniparental disomy tmpak2llvmy_mondo_relaxed.owl genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD|androgenetic/biparental mosaicism Orphanet:329813|UMLS:CN230278 owl:Class UBERON:0002827 biolink:NamedThing vestibulocochlear ganglion the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia tmpak2llvmy_mondo_relaxed.owl vestibulocochlear ganglia|auditory ganglion|SAG|nucleus nervi oculomotorii, pars ventralis|statoacoustic VIII ganglion|statoacoustic (VIII) ganglion|acoustic ganglion VIII|statoacoustic ganglion|acoustico-vestibular VIII ganglion|gVIII|nucleus nervi oculomotorii ventrolateralis|vestibulocochlear VIII ganglion|statoacoustic ganglia|acoustic ganglion|ganglion VIII owl:Class UBERON:0003249 biolink:NamedThing epithelium of otic placode An epithelium that is part of a otic placode [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of otic placode|otic placode epithelium|otic placode epithelial tissue|otic epithelium owl:Class MONDO:0014346 biolink:NamedThing white sponge nevus 2 tmpak2llvmy_mondo_relaxed.owl WHITE sponge NEVUS 2|white sponge nevus 2|White sponge Nevus type 2|WSN2 OMIM:615785|UMLS:C4014321 owl:Class HGNC:6415 biolink:NamedThing KRT13 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000016 biolink:NamedThing silt Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000984 biolink:NamedThing porous A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008438 biolink:NamedThing hereditary spastic paraplegia 4 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in SPAST|spastic paraplegia 4, autosomal dominant|hereditary spastic paraplegia type 4|SPG4|hereditary spastic paraplegia 4|familial spastic paraplegia autosomal dominant 2|autosomal dominant spastic paraplegia 4|SPAST hereditary spastic paraplegia|FSP2|autosomal dominant spastic paraplegia type 4|spastic paraplegia 4|familial spastic paraplegia, autosomal dominant, 2 NCIT:C129981|DOID:0110792|GARD:0004925|SCTID:723820001|Orphanet:100985|UMLS:C4510079|UMLS:C1866855|MESH:C536865|OMIM:182601|ICD10:G11.4 owl:Class HGNC:11233 biolink:NamedThing SPAST tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009009 biolink:NamedThing hypoplasminogenemia Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. tmpak2llvmy_mondo_relaxed.owl hypoplasminogenemia|plasminogen deficiency type 1|ligneous conjunctivitis|Dysplasminogenemia|plasminogen deficiency, type I|type 1 plasminogen deficiency|plasminogen deficiency, type 2|plasminogen deficiency, type 1 SCTID:95840007|UMLS:C1968804|MESH:C580017|ICD10:L90.5|UMLS:C0398621|OMIM:217090|Orphanet:722|GARD:0004380 owl:Class CHEBI:50683 biolink:NamedThing EC 1.5.1.3 (dihydrofolate reductase) inhibitor An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3). tmpak2llvmy_mondo_relaxed.owl folic reductase inhibitors|folic reductase inhibitor|folic acid reductase inhibitor|NADPH-dihydrofolate reductase inhibitor|tetrahydrofolate dehydrogenase inhibitors|dihydrofolic acid reductase inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitors|dihydrofolic acid reductase inhibitors|DHFR inhibitor|dihydrofolate reductase inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitor|tetrahydrofolate dehydrogenase inhibitor|EC 1.5.1.3 inhibitor|dihydrofolic reductase inhibitor|dihydrofolic reductase inhibitors|dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitors|folic acid reductase inhibitors|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|NADPH-dihydrofolate reductase inhibitors|7,8-dihydrofolate reductase inhibitors|7,8-dihydrofolate reductase inhibitor|DHFR inhibitors owl:Class GO:0015986 biolink:NamedThing ATP synthesis coupled proton transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpak2llvmy_mondo_relaxed.owl chemiosmosis owl:Class CL:2000079 biolink:NamedThing mesenchymal stem cell of femoral bone marrow Any mesenchymal stem cell of the bone marrow that is part of a femur. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T19:07:31Z cell owl:Class MONDO:0013088 biolink:NamedThing follicular lymphoma, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl follicular lymphoma, susceptibility to, 1|FL1 OMIM:613024 owl:Class HGNC:989 biolink:NamedThing BCL10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005060 biolink:NamedThing liposarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. tmpak2llvmy_mondo_relaxed.owl sarcoma of lip|liposarcoma|liposarcoma, malignant|lip sarcoma GARD:0006913|MESH:D008080|ICD10:C49.9|MedDRA:10024627|ONCOTREE:LIPO|Orphanet:69078|SCTID:254829001|DOID:3382|NCIT:C3194|EFO:0000569|ICDO:8850/3|ICD9:171.9|UMLS:C0023827 https://rarediseases.info.nih.gov/diseases/6913/liposarcoma owl:Class UBERON:0001000 biolink:NamedThing vas deferens A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct tmpak2llvmy_mondo_relaxed.owl deferent duct|vasa deferentia|sperm duct|ductus deferens|vas deferen owl:Class UBERON:0001968 biolink:NamedThing semen Organism substance that is composed of sperm cells suspended in seminal fluid. tmpak2llvmy_mondo_relaxed.owl sperm|ejaculate owl:Class MONDO:0011778 biolink:NamedThing multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl AGBK|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|Mmedf|Al-Gazali-Bakalinova syndrome|AL-Gazali-BAKALINOVA syndrome ICD10:Q77.3|MESH:C564621|OMIM:607131|SCTID:719688002|Orphanet:166024 owl:Class HGNC:30497 biolink:NamedThing KIF7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001837 biolink:NamedThing duct of salivary gland The duct of a salivary gland. tmpak2llvmy_mondo_relaxed.owl salivary duct|salivary gland duct|secretory duct owl:Class UBERON:0005031 biolink:NamedThing mucosa of upper lip A mucosa that is part of a upper lip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of upper lip|upper labial mucosa|mucous membrane of upper lip|upper lip mucous membrane|upper lip mucosa of organ|upper lip organ mucosa|upper lip mucosa|mucosa of organ of upper lip owl:Class UBERON:0001834 biolink:NamedThing upper lip Lip that covers the upper portion of the mouth.[TAO]. tmpak2llvmy_mondo_relaxed.owl upper jaw lip|labium superius oris owl:Class UBERON:0007500 biolink:NamedThing epithelial tube open at both ends An epithelial tube open at both ends that allows fluid flow. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015481 biolink:NamedThing left hepatic artery A hepatic artery that is part of a left lobe of liver. tmpak2llvmy_mondo_relaxed.owl ramus sinister (arteria hepatica propria)|left branch of hepatic artery|left part of hepatic artery proper owl:Class UBERON:0001115 biolink:NamedThing left lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl lobus hepaticus sinister|left hepatic lobe|liver left lobe|lobus hepatis sinister|left liver lobe owl:Class GO:0036374 biolink:NamedThing glutathione hydrolase activity Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. tmpak2llvmy_mondo_relaxed.owl gamma-glutamyltranspeptidase activity|glutathionase activity owl:Class UBERON:0002128 biolink:NamedThing superior olivary complex A a collection of brainstem nuclei that functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. tmpak2llvmy_mondo_relaxed.owl nucleus olivaris superior|superior olive|superior olivary nuclei|superior olivary nucleus|superior olivary nucleus (Barr & Kiernan)|regio olivaris superioris owl:Class MONDO:0014837 biolink:NamedThing thrombocytopenia 6 tmpak2llvmy_mondo_relaxed.owl thrombocytopenia type 6|hereditary thrombocytopenia with early-onset myelofibrosis|thrombocytopenia, autosomal dominant, 6|THC6|thrombocytopenia 6 OMIM:616937|UMLS:C4310789|Orphanet:480851 owl:Class HGNC:11283 biolink:NamedThing SRC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010084 biolink:NamedThing future diaphragm A structure that will develop into a diaphragm. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q21.1 biolink:NamedThing chr1q21.1 (Human) tmpak2llvmy_mondo_relaxed.owl 147500000 143200000 hg38 owl:Class UBERON:0001508 biolink:NamedThing arch of aorta the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery tmpak2llvmy_mondo_relaxed.owl thoracic aorta|arcus aortae|aortic arch owl:Class MONDO:0014756 biolink:NamedThing tremor, hereditary essential, 5 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. tmpak2llvmy_mondo_relaxed.owl tremor, hereditary essential, 5; ETM5|tremor, hereditary essential, 5|tremor, hereditary essential, type 5|essential tremor caused by mutation in TENM4|ETM5|TENM4 essential tremor DOID:0111432|OMIM:616736|UMLS:C4225223 owl:Class HGNC:29945 biolink:NamedThing TENM4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000177 biolink:NamedThing testosterone secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0016352 biolink:NamedThing idiopathic inherited hypercalciuria tmpak2llvmy_mondo_relaxed.owl idiopathic hypercalciuria ICD10:E83.5|Orphanet:2197 Editor note: consider grouping class owl:Class HP:0002150 biolink:NamedThing Hypercalciuria tmpak2llvmy_mondo_relaxed.owl Hypercalcinuria|Elevated urine calcium levels MSH:D053565|UMLS:C0020438|SNOMEDCT_US:71938000 human_phenotype owl:Class UBERON:0036150 biolink:NamedThing skin appendage follicle An organ subunit in the skin that gives rise to cutaneous appendage. tmpak2llvmy_mondo_relaxed.owl follicle|cutaneous appendage follicle|skin follicle owl:Class N5995e4e3fe48408eb9273d20a971308d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0000375 biolink:NamedThing mandibular nerve The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini. tmpak2llvmy_mondo_relaxed.owl nervus mandibularis [v3]|mandibular division of trigeminal nerve [Vc; V3]|third division of fifth cranial nerve|third division of trigeminal nerve|mandibular division of fifth cranial nerve|nervus mandibularis [vc]|nervus mandibularis [Vc; V3]|trigeminal V nerve mandibular division|n. mandibularis|mandibular nerve [Vc]|mandibular division [V3]|inferior maxillary nerve|ramus mandibularis (ramus V3)|mandibular division [Vc]|mandibular nerve [V3]|nervus mandibularis|trigeminal nerve mandibular division owl:Class ENVO:01001192 biolink:NamedThing sediment surface The surface layer of a mass of sediment. tmpak2llvmy_mondo_relaxed.owl surface sediment|surface of a sedimentary mass owl:Class MONDO:0015636 biolink:NamedThing dirofilariasis Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. tmpak2llvmy_mondo_relaxed.owl Dirofilaria infectious disease|infection by Dirofilaria|Dirofilaria disease or disorder|Dirofilaria caused disease or disorder EFO:0007239|SCTID:73328005|DOID:1082|Orphanet:166291|ICD10:B74.8|MESH:D004184|GARD:0011908|ICD9:125.6|UMLS:C0012602 https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis owl:Class NCBITaxon:6286 biolink:NamedThing Dirofilaria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PO:0006079 biolink:NamedThing shoot system meristem A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006). tmpak2llvmy_mondo_relaxed.owl シュート分裂組織 (Japanese, exact)|meristema del epiblasto (epiblastema) (Spanish, exact) PO_GIT:472|PO_GIT:583 plant_anatomy owl:Class MONDO:0010378 biolink:NamedThing X-linked hereditary sensory and autonomic neuropathy with deafness This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. tmpak2llvmy_mondo_relaxed.owl deafness, X-linked 5|DFNX5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|X-linked HSAN with deafness|X-linked auditory neuropathy with peripheral sensory neuropathy type 1|X-linked hereditary sensory and autonomic neuropathy with deafness MESH:C564472|Orphanet:139583|ICD10:G60.8|OMIM:300614|GARD:0012731|UMLS:C4304400|UMLS:C1845095|SCTID:719838008 https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness owl:Class HGNC:11204 biolink:NamedThing SOX9 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7 biolink:NamedThing chr7 (Human) tmpak2llvmy_mondo_relaxed.owl 159345973 0 hg38 owl:Class MONDO:0002905 biolink:NamedThing mutism The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. tmpak2llvmy_mondo_relaxed.owl mutism|mutism (disease) mutism (disease) UMLS:C0026884|HP:0002300|DOID:4189|MESH:D009155 owl:Class MONDO:0006314 biolink:NamedThing nasal cavity polyp A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. tmpak2llvmy_mondo_relaxed.owl polyp of nasal cavity|nasal polyp|nasal cavity polyp|polyp of the nasal cavity NCIT:C3256|ICD9:471.9|EFO:1000391|UMLS:C0027430|ICD9:471.0|SCTID:52756005|MESH:D009298 owl:Class MONDO:0012639 biolink:NamedThing hereditary spastic paraplegia 18 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. tmpak2llvmy_mondo_relaxed.owl intellectual disability, motor dysfunction, and Joint contractures|intellectual disability, motor dysfunction and joint contractures|ERLIN2 autosomal recessive complex spastic paraplegia|SPG18|spastic paraplegia 18, autosomal recessive|spastic paraplegia 18|hereditary spastic paraplegia type 18|autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|autosomal recessive spastic paraplegia type 18|autosomal recessive spastic paraplegia 18 GARD:0004922|Orphanet:209951|DOID:0110771|OMIM:611225|SCTID:732932004|MESH:C567628|ICD10:G11.4 owl:Class HGNC:1356 biolink:NamedThing ERLIN2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4247 biolink:NamedThing GGCX tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007732 biolink:NamedThing interphalangeal joint of manual digit 5 An interphalangeal joint of manus that is part of a manual digit 5. tmpak2llvmy_mondo_relaxed.owl interphalangeal joint of manual digit V|interphalangeal joint of fifth digit of hand|interphalangeal joint of fifth finger|interphalangeal joint of little finger owl:Class CL:2000078 biolink:NamedThing placental pericyte Any pericyte cell that is part of a placenta. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T18:51:03Z cell owl:Class MONDO:0017994 biolink:NamedThing severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E66.8|Orphanet:329249|UMLS:CN204200 owl:Class HGNC:30417 biolink:NamedThing SH2B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016968 biolink:NamedThing partial trisomy of the long arm of chromosome 18 tmpak2llvmy_mondo_relaxed.owl 18q partial trisomy|18q duplication|Duplication 18q|partial trisomy of chromosome 18q|partial trisomy of the long arm of chromosome type 18|18q trisomy|partial duplication of the long arm of chromosome 18|chromosome 18q duplication|partial duplication of chromosome 18q|trisomy 18q Orphanet:262977|GARD:0005324|UMLS:C0809935|MESH:C538308 owl:Class OBO:CHR_9606-chr18q biolink:NamedThing chr18q (Human) tmpak2llvmy_mondo_relaxed.owl 80373285 18500000 hg38 owl:Class UBERON:0009845 biolink:NamedThing urogenital sinus mesenchyme Mesenchyme that surrounds primitive urogenital sinus. tmpak2llvmy_mondo_relaxed.owl UGM owl:Class MONDO:0003631 biolink:NamedThing cervical serous adenocarcinoma A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen. tmpak2llvmy_mondo_relaxed.owl cervical serous adenocarcinoma UMLS:C1516431|NCIT:C40201|DOID:5752 owl:Class CL:1001591 biolink:NamedThing oviduct glandular cell Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells. tmpak2llvmy_mondo_relaxed.owl uterine tube glandular cell|fallopian tube glandular cells|fallopian tube glandular cell CALOHA:TS-1277 owl:Class UBERON:0012151 biolink:NamedThing skeleton of manual digitopodium A subdivision of the manus skeleton consisting of both manual acropodial skeleton and metacarpal skeleton, but excluding the carpal skeleton. tmpak2llvmy_mondo_relaxed.owl manual digitopodium owl:Class UBERON:0005401 biolink:NamedThing cerebral hemisphere gray matter A gray matter that is part of a cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl cerebral grey matter|cerebral hemisphere grey matter|cerebral gray matter owl:Class HGNC:5136 biolink:NamedThing HOXD13 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005496 biolink:NamedThing neural tube lateral wall Portion of tissue on the side of the lumen of the neural tube. tmpak2llvmy_mondo_relaxed.owl lateral wall neural tube owl:Class MONDO:0001485 biolink:NamedThing atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. tmpak2llvmy_mondo_relaxed.owl atypical depression SCTID:191659001|DOID:12294|ICD10:F32.8|ICD9:296.82 owl:Class HP:0001262 biolink:NamedThing Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. tmpak2llvmy_mondo_relaxed.owl More than typical sleepiness during day|Excessive daytime sleepiness SNOMEDCT_US:271782001|UMLS:C2830004|SNOMEDCT_US:79519003 HP:0002189 human_phenotype owl:Class UBERON:0005733 biolink:NamedThing limb field A ring of cells capable of forming a limb. tmpak2llvmy_mondo_relaxed.owl limb field of lateral plate mesoderm owl:Class MONDO:0044978 biolink:NamedThing disease of cell nucleus tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3007 biolink:NamedThing DPM3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001464 biolink:NamedThing hip The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl coxa|regio coxae|hip region owl:Class Nd3f3c45c67604cca9d752926505b66c8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012245 biolink:NamedThing developmental and epileptic encephalopathy, 3 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. tmpak2llvmy_mondo_relaxed.owl EIEE3|epileptic encephalopathy, early infantile, type 3|DEE3|SLC25A22 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SLC25A22|epileptic encephalopathy, early infantile, 3 OMIM:609304|DOID:0080440 owl:Class HGNC:19954 biolink:NamedThing SLC25A22 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006591 biolink:NamedThing transformed artery A remnant of embryonic structure that develops_from a artery. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11q24 biolink:NamedThing chr11q24 (Human) tmpak2llvmy_mondo_relaxed.owl 130900000 121300000 hg38 owl:Class UBERON:0003617 biolink:NamedThing trachea elastic tissue An elastic tissue that is part of a trachea [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl windpipe elastic connective tissue|elastic tissue of cartilaginous trachea|textus connectivus elasticus of windpipe|cartilaginous trachea textus connectivus elasticus|vertebrate trachea elastic tissue|elastic tissue of windpipe|vertebrate trachea elastic connective tissue|elastic connective tissue of windpipe|cartilaginous trachea elastic tissue|cartilaginous trachea elastic connective tissue|elastic tissue of vertebrate trachea|windpipe textus connectivus elasticus|textus connectivus elasticus of vertebrate trachea|windpipe elastic tissue|elastic connective tissue of cartilaginous trachea|elastic connective tissue of vertebrate trachea|vertebrate trachea textus connectivus elasticus|textus connectivus elasticus of cartilaginous trachea owl:Class MONDO:0004599 biolink:NamedThing barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. tmpak2llvmy_mondo_relaxed.owl SCTID:231462006|ICD9:305.43|DOID:8519 owl:Class CHEBI:29745 biolink:NamedThing barbiturate Conjugate base of barbituric acid. tmpak2llvmy_mondo_relaxed.owl barbiturate anion|2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide owl:Class MONDO:0024556 biolink:NamedThing epilepsy, familial focal, with variable foci 1 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial focal, with variable foci 1|FFEVF1|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci|epilepsy, partial, with variable foci|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5 NCIT:C161005|UMLS:C1858477|OMIM:604364 owl:Class HGNC:18423 biolink:NamedThing DEPDC5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004461 biolink:NamedThing skeletal musculature of head Any collection of skeletal muscles that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl musculi capitis|head musculature|muscle group of head|muscles of head|set of muscles of head owl:Class MONDO:0100215 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 1 tmpak2llvmy_mondo_relaxed.owl developmental delay, small stature, microcephaly, and brain calcifications|NEDBLLA|brain calcification, Rajab type|neurodevelopmental disorder with brain, liver, and lung abnormalities|Rajab syndrome OMIM:618007|UMLS:CN248515|SCTID:720576001|UMLS:C3150910|Orphanet:178506|OMIM:613658 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:17800 biolink:NamedThing FARSB tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:203492 biolink:NamedThing Fusobacteriaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0014031 biolink:NamedThing mesenchymal cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004551 biolink:NamedThing Meckel diverticulitis Inflammation of a congenital diverticulum of the lower intestine. tmpak2llvmy_mondo_relaxed.owl Meckel's diverticulum inflammation|inflammation of Meckel's diverticulum|Meckel diverticulitis|Meckel's diverticulitis NCIT:C27300|UMLS:C0267497|DOID:8408|SCTID:48241004 owl:Class GO:1903294 biolink:NamedThing regulation of glutamate secretion, neurotransmission Any process that modulates the frequency, rate or extent of glutamate secretion, neurotransmission. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061535 biolink:NamedThing glutamate secretion, neurotransmission The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005352 biolink:NamedThing spermatic cord The cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis[MP]. tmpak2llvmy_mondo_relaxed.owl spermatic chord|funiculus spermaticus owl:Class UBERON:0004054 biolink:NamedThing internal male genitalia The internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands tmpak2llvmy_mondo_relaxed.owl internal male genital organ|male internal genitalia|organa genitalia masculina interna owl:Class UBERON:0010360 biolink:NamedThing pharyngeal arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a entire pharyngeal arch associated mesenchyme. tmpak2llvmy_mondo_relaxed.owl arch mesenchyme from head mesenchyme|head mesenchyme derived arch mesenchyme|branchial arch mesenchyme from head mesenchyme owl:Class UBERON:0010046 biolink:NamedThing entire pharyngeal arch associated mesenchyme The sum total of mesenchymal tissue in the pharyngeal arch region. Pharyngeal mesenchyme is undifferentiated, loose connective tissue derived mostly from mesoderm, and also contains ectodermally derived neural crest cells. tmpak2llvmy_mondo_relaxed.owl associated mesenchyme of pharyngeal region|entire branchial arch associated mesenchyme|pharyngeal arch associated mesenchyme owl:Class MONDO:0018398 biolink:NamedThing female infertility due to a congenital hypogonadotropic hypogonadism tmpak2llvmy_mondo_relaxed.owl rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 2022-03-01 Orphanet:399846|ICD10:N97.0|Orphanet:399839 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0015661 biolink:NamedThing dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. tmpak2llvmy_mondo_relaxed.owl heart predominantly in right hemithorax|dextrocardia (disease)|dextrocardia dextrocardia (disease) Orphanet:1666|ICD9:746.87|MONDO:0004823|HP:0001651|MedDRA:10012592|DOID:9565|ICD10:Q24.0|NCIT:C84669|GARD:0001827|SCTID:27637000|MESH:D003914 owl:Class HsapDv:0000086 biolink:NamedThing adolescent stage Mature stage that refers to an adolescent who is over 13 and under 19 years old. tmpak2llvmy_mondo_relaxed.owl teen|teenager|13-18 years owl:Class MONDO:0011624 biolink:NamedThing transaldolase deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. tmpak2llvmy_mondo_relaxed.owl transaldolase deficiency|TALDO deficiency|Eyaid syndrome|Taldo deficiency UMLS:C1291329|MESH:C563207|ICD10:E74.8|Orphanet:101028|OMIM:606003|GARD:0010445|ICD9:277.6|SCTID:124252008 https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency owl:Class HGNC:11559 biolink:NamedThing TALDO1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003911 biolink:NamedThing choroid plexus epithelium The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue. tmpak2llvmy_mondo_relaxed.owl epithelium of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere|epithelial tissue of choroid plexus|choroid plexus epithelial tissue owl:Class MONDO:0013440 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|DAG1 autosomal recessive limb-girdle muscular dystrophy|MDDGC9|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|muscular dystrophy, limb-girdle, type 2P|LGMD2P|limb-girdle muscular dystrophy type 2P OMIM:613818|Orphanet:280333|DOID:0110293|UMLS:C3151184|GARD:0012541|ICD10:G71.0 owl:Class HGNC:2666 biolink:NamedThing DAG1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010771 biolink:NamedThing negative regulation of cell morphogenesis involved in differentiation Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000904 biolink:NamedThing cell morphogenesis involved in differentiation The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005894 biolink:NamedThing paracoccidioidomycosis A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. tmpak2llvmy_mondo_relaxed.owl PCM|South American blastomycosis|mucocutaneous-lymphangitic paracoccidioidomycosis|Paracoccidioidal granuloma|lobo disease|Lutz-Splendore-Almeida disease|paracoccidioidal mycosis MESH:D010229|ICD10:B41.7|EFO:0007417|DOID:12662|Orphanet:73260|MedDRA:10061906|ICD10:B41.0|ICD10:B41.8|ICD10:B41|ICD10:B41.9|GARD:0007323|ICD9:116.1|NCIT:C34891|SCTID:36866003|UMLS:C0030409 https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis owl:Class UBERON:0000402 biolink:NamedThing nasal vestibule The nasal vestibule is the most anterior part of the nasal cavity. It's enclosed by the cartilages of nose and lined by the same epithelium of the skin. The other part of the nasal cavity, which is lined by the respiratory epithelium, is called nasal cavity proper. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vestibulum nasale|vestibular part of nasal cavity|vestibulum nasi owl:Class UBERON:0001355 biolink:NamedThing deep femoral artery The profunda femoris artery (also known as the deep femoral artery, or the deep artery of the thigh) is a branch of the femoral artery that, as its name suggests, travels more deeply (posteriorly) than the rest of the femoral artery. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria profunda femoris|profunda femoris artery owl:Class UBERON:0002060 biolink:NamedThing femoral artery The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria femoralis owl:Class UBERON:0035083 biolink:NamedThing transverse process-bearing vertebra A vertebra that has a transverse process. tmpak2llvmy_mondo_relaxed.owl TP vertebra|pygal vertebra owl:Class UBERON:0001077 biolink:NamedThing transverse process of vertebra The transverse or costal processes of a vertebra, two in number, project one at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes. They serve for the attachment of muscles and ligaments. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vertebra transverse process|processus transversus vertebrae|transverse process|processus transversus|diapophysis|diapophyses owl:Class MONDO:0012967 biolink:NamedThing hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. tmpak2llvmy_mondo_relaxed.owl ADENYLATE KINASE deficiency, hemolytic anemia due to OMIM:612631|UMLS:C2675459|ICD10:D55.3|Orphanet:86817|MESH:C567228|SCTID:766982000 owl:Class HGNC:361 biolink:NamedThing AK1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001232 biolink:NamedThing collecting duct of renal tubule The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient tmpak2llvmy_mondo_relaxed.owl ureteric tree|junctional tube|kidney collecting duct|collecting duct system|collecting duct|arcuate renal tubule|tubulus renalis colligens|kidney collecting tubule|tubulus renalis arcuatus|collecting tubule|renal collecting tubule owl:Class HP:0001663 biolink:NamedThing Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. tmpak2llvmy_mondo_relaxed.owl UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 HP:0005166 human_phenotype owl:Class UBERON:0009611 biolink:NamedThing midbrain neural plate A neural plate that develops_from a presumptive midbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003056 biolink:NamedThing pre-chordal neural plate The portion of neural plate anterior to the mid-hindbrain junction. tmpak2llvmy_mondo_relaxed.owl anterior neural plate owl:Class ECTO:0002002 biolink:NamedThing exposure to steroid An exposure to steroid. tmpak2llvmy_mondo_relaxed.owl exposure to steroid owl:Class GO:2001170 biolink:NamedThing negative regulation of ATP biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of ATP formation|negative regulation of ATP regeneration|negative regulation of ATP anabolism|negative regulation of ATP synthesis|negative regulation of ATP biosynthesis owl:Class MONDO:0018020 biolink:NamedThing mercury poisoning Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. tmpak2llvmy_mondo_relaxed.owl hydrargyria|Mercury intoxication|mercurialism|Mercury toxicity MESH:D008630|GARD:0007021|SCTID:85180002|ICD9:985.0|ICD10:T56.1|Orphanet:330021|EFO:1001810 https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning owl:Class ECTO:0001571 biolink:NamedThing exposure to mercury An exposure to mercury molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to mercury molecular entity owl:Class MONDO:0021018 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 1D, formerly|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1E (Bushby and Beckmann, 2003)|limb-girdle muscular dystrophy type 1D|muscular dystrophy, limb-girdle, type 1D|muscular dystrophy, limb-girdle, type 1E|LGMD1D|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|autosomal dominant limb-girdle muscular dystrophy type 1E|LGMD1D (DNAJB6)|muscular dystrophy limb-girdle type 1D|LGMD1E|autosomal dominant limb-girdle muscular dystrophy type 1D|muscular dystrophy limb-girdle type 1E DOID:0110305|ICD10:G71.0|GARD:0012528|UMLS:C3501858|OMIM:603511|Orphanet:34516|MESH:C566370 Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 owl:Class HGNC:14888 biolink:NamedThing DNAJB6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007142 biolink:NamedThing left internal carotid artery An internal carotid artery that branching_part_of a left common carotid artery plus branches. tmpak2llvmy_mondo_relaxed.owl arteria caritis interna sinistra owl:Class UBERON:0001536 biolink:NamedThing left common carotid artery plus branches The leftmost of the two common carotid arteries, originating from the aortic arch in the thorax. tmpak2llvmy_mondo_relaxed.owl left common carotid artery|trunk of left common carotid tree owl:Class UBERON:0009501 biolink:NamedThing mesenchyme of fronto-nasal process The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head tmpak2llvmy_mondo_relaxed.owl frontonasal mesenchyme|naso-frontal mesenchyme owl:Class UBERON:5006048 biolink:NamedThing digit 1 plus metapodial segment A subdivision of the autopod consisting of digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl digit I plus metapodial segment|digit 1 ray|digit 1|digit 1 ( phalanges plus metapodial) plus soft tissue|digit 1 digitopodial subdivision owl:Class UBERON:0005473 biolink:NamedThing sacral region A subdivision of an organism along the anterior-posterior axis in the pelvic region immediately posterior to the lumbar region and anterior to the caudal region. Sometimes an intermediate region is defined between the sacral and caudal. tmpak2llvmy_mondo_relaxed.owl regio sacralis|rump|sacral part of pelvis|back of pelvis|croup|hindquarter|pelvic back|posterior part of pelvis owl:Class UBERON:0018239 biolink:NamedThing rhombomere boundary A boundary delimiting a rhombomere. tmpak2llvmy_mondo_relaxed.owl rhombomere junction owl:Class MONDO:0021677 biolink:NamedThing post-infectious neuralgia tmpak2llvmy_mondo_relaxed.owl postinfectious neuralgia SCTID:17111003|UMLS:C0032772|ICD9:729.2 owl:Class MONDO:0010136 biolink:NamedThing thyroid dyshormonogenesis 4 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. tmpak2llvmy_mondo_relaxed.owl thyroid hormonogenesis, genetic defect in, 4|hypothyroidism, congenital, due to dyshormonogenesis, 4|thyroid dyshormonogenesis type 4|deiodinase deficiency|thyroid dyshormonogenesis 4|TDH4|iodotyrosine dehalogenase deficiency|IYD familial thyroid dyshormonogenesis|familial thyroid dyshormonogenesis caused by mutation in IYD OMIM:274800|SCTID:17885001|MESH:C562770|UMLS:C0342195 owl:Class HGNC:21071 biolink:NamedThing IYD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009770 biolink:NamedThing 3MC syndrome 1 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. tmpak2llvmy_mondo_relaxed.owl 3MC syndrome caused by mutation in MASP1|Michels syndrome, formerly|3MC syndrome 1|3Mc syndrome type 1|3MC syndrome type 1|oculopalatoskeletal syndrome|3MC1|MASP1 3MC syndrome|craniosynostosis with 51D anomalies|Michels syndrome OMIM:257920|DOID:0060575|EFO:1001978|UMLS:C0796059|Orphanet:2506 owl:Class HGNC:6901 biolink:NamedThing MASP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:574 biolink:NamedThing AP4M1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001218 biolink:NamedThing middle colic vein The middle colic vein drains the transverse colon. It is a tributary of the superior mesenteric vein, and follows the path of its corresponding artery, the middle colic artery. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena colica media (intermedia)|vena colica media owl:Class UBERON:0012168 biolink:NamedThing umbilical cord blood blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. tmpak2llvmy_mondo_relaxed.owl cord blood|umbilical cord blood|fetal blood owl:Class UBERON:0000323 biolink:NamedThing late embryo An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. tmpak2llvmy_mondo_relaxed.owl embryo late stage|embryo late growth stage|fetus owl:Class MONDO:0009748 biolink:NamedThing hereditary sensory and autonomic neuropathy with spastic paraplegia This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive|hereditary sensory and autonomic neuropathy with spastic paraplegia ICD10:G60.8|Orphanet:139578|OMIM:256840|MESH:C564948|UMLS:C1850395|SCTID:717827000|UMLS:C4303565 owl:Class HGNC:1618 biolink:NamedThing CCT5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013749 biolink:NamedThing metaphysis of humerus A metaphysis that is part of a metaphysis. tmpak2llvmy_mondo_relaxed.owl diaphyseal end of humerus|humeral metaphysis owl:Class HGNC:6107 biolink:NamedThing PDX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013436 biolink:NamedThing retinitis pigmentosa 39 Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene. tmpak2llvmy_mondo_relaxed.owl USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|retinitis pigmentosa type 39|retinitis pigmentosa 39|RP39 DOID:0110360|OMIM:613809|UMLS:C3151138|ICD10:H35.5 owl:Class UBERON:0003724 biolink:NamedThing musculocutaneous nerve a large branch of the brachial plexus supplying various parts of the upper arm (as flexor muscles) and forearm (as the skin). tmpak2llvmy_mondo_relaxed.owl casserio's nerve|nervus musculocutaneus owl:Class MONDO:0100278 biolink:NamedThing alanine glyoxylate aminotransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. tmpak2llvmy_mondo_relaxed.owl alanine glyoxylate aminotransferase deficiency|AGXT deficiency|AGXT defect http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0005068 biolink:NamedThing neural rod A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. tmpak2llvmy_mondo_relaxed.owl neural tube rod owl:Class MONDO:0017400 biolink:NamedThing hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. tmpak2llvmy_mondo_relaxed.owl Mitchell-Riley syndrome|hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|MTCHRS|diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia|hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ICD10:Q45.8|OMIM:615710|Orphanet:293864|UMLS:C2748662 owl:Class HGNC:21478 biolink:NamedThing RFX6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006609 biolink:NamedThing seborrheic infantile dermatitis Excessive shedding of dry scaly material from the scalp in humans. tmpak2llvmy_mondo_relaxed.owl Seborrhoeic eczema of scalp|Seborrhoeic dermatitis of scalp|seborrhea capitis|generalized seborrheic dermatitis of infants|seborrheic dermatitis (disease) of scalp|infantile seborrheic dermatitis|infantile seborrhoeic dermatitis|pityriasis capitis|Seborrhoea capitis|complement 5 dysfunction|scalp seborrheic dermatitis (disease)|seborrhea sicca|cradle cap DOID:8941|ICD10:L21.0|ICD9:690.11|EFO:1000765 owl:Class CHEBI:37327 biolink:NamedThing isoalloxazine tmpak2llvmy_mondo_relaxed.owl benzo[g]pteridine-2,4(3H,10H)-dione owl:Class CHEBI:37325 biolink:NamedThing alloxazine tmpak2llvmy_mondo_relaxed.owl Alloxazin|alloxazine|benzo[g]pteridine-2,4(1H,3H)-dione owl:Class MONDO:0003095 biolink:NamedThing laryngeal mucoepidermoid carcinoma A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the larynx|larynx mucoepidermoid carcinoma|laryngeal throat mucoepidermoid cancer|laryngeal mucoepidermoid carcinoma|mucoepidermoid carcinoma of larynx DOID:4688|NCIT:C9463|UMLS:C1334373 owl:Class MONDO:0014184 biolink:NamedThing specific language impairment 5 A communication disorder that involves the processing of linguistic information. tmpak2llvmy_mondo_relaxed.owl specific language impairment type 5|specific language impairment 5|SLI5 OMIM:615432|UMLS:C3809483 owl:Class HGNC:26230 biolink:NamedThing TM4SF20 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000920 biolink:NamedThing duodenum cancer A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of duodenum|malignant duodenal neoplasm|duodenum cancer|malignant tumor of the duodenum|malignant duodenum neoplasm|duodenal cancer|malignant duodenal tumor|malignant tumor of duodenum|malignant neoplasm of the duodenum|cancer of duodenum NCIT:C9328|ICD9:152.0|MESH:D004379|DOID:10021|SCTID:363403002|ICD10:C17.0 owl:Class GO:0050668 biolink:NamedThing positive regulation of homocysteine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpak2llvmy_mondo_relaxed.owl up-regulation of homocysteine metabolic process|upregulation of homocysteine metabolic process|positive regulation of homocysteine metabolism|positive regulation of Hcy metabolism|stimulation of homocysteine metabolic process|activation of homocysteine metabolic process|up regulation of homocysteine metabolic process|positive regulation of Hcy metabolic process owl:Class GO:0003093 biolink:NamedThing regulation of glomerular filtration Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003094 biolink:NamedThing glomerular filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014716 biolink:NamedThing macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome tmpak2llvmy_mondo_relaxed.owl macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism|SKS|Smith-Kingsmore syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|SMITH-Kingsmore syndrome|MINDS syndrome Orphanet:457485|EFO:0009050|UMLS:C4225259|OMIM:616638 owl:Class GO:0051249 biolink:NamedThing regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017877 biolink:NamedThing Brazilian hemorrhagic fever Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. tmpak2llvmy_mondo_relaxed.owl Sabia hemorrhagic fever DOID:0050197|ICD10:A96.8|UMLS:C0343633|SCTID:240524001|Orphanet:319239 owl:Class NCBITaxon:2169992 biolink:NamedThing Brazilian mammarenavirus tmpak2llvmy_mondo_relaxed.owl Sabi mammarenavirus|Sabia arenavirus|Sabia virus|Sabia mammarenavirus GC_ID:1 NCBITaxon:45709 ncbi_taxonomy owl:Class MONDO:0014893 biolink:NamedThing Okur-Chung neurodevelopmental syndrome tmpak2llvmy_mondo_relaxed.owl Okur-Chung neurodevelopmental syndrome|OCNDS|Okur-Chung neurodevelopmental syndrome; OCNDS UMLS:C4310739|OMIM:617062 owl:Class HGNC:2457 biolink:NamedThing CSNK2A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13711 biolink:NamedThing POF1B tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:60643 biolink:NamedThing NMDA receptor antagonist Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs. tmpak2llvmy_mondo_relaxed.owl N-methyl-D-aspartate receptor antagonist|NMDAR antagonists|NMDA receptor antagonists|N-methyl-D-aspartate receptor antagonists|NMDAR antagonist owl:Class MONDO:0008953 biolink:NamedThing peroxisome biogenesis disorder 1A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 1|Zs|peroxisome biogenesis disorder, complementation group E|Cerebrohepatorenal syndrome|PBD1A|peroxisome biogenesis disorder 1A (Zellweger) OMIM:214100|DOID:0080476 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CL:0000295 biolink:NamedThing somatotropin secreting cell A peptide hormone secreting cell that produces growth hormone, somatotropin. tmpak2llvmy_mondo_relaxed.owl somatotrophin secreting cell|growth hormone secreting cell CL:0000471 cell owl:Class UBERON:0001114 biolink:NamedThing right lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl gall bladder lobe|second lobe|right liver lobe|lobus hepaticus dexter|lobus hepatis dexter|2nd lobe|liver right lobe|right hepatic lobe owl:Class MONDO:0014070 biolink:NamedThing oculocutaneous albinism type 7 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. tmpak2llvmy_mondo_relaxed.owl OCA7|LRMDA oculocutaneous albinism|oculocutaneous albinism caused by mutation in LRMDA|albinism, oculocutaneous, type 7|oculocutaneous albinism type VII|albinism, oculocutaneous, type VII SCTID:722059002|ICD10:E70.3|UMLS:C3808786|UMLS:CN204524|OMIM:615179|Orphanet:352745|DOID:0070100 owl:Class HGNC:23405 biolink:NamedThing LRMDA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004210 biolink:NamedThing colonic L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpak2llvmy_mondo_relaxed.owl L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colon L-cell glucagon-like peptide-producing NET|colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor DOID:7401|UMLS:C3274139|NCIT:C27447 owl:Class MONDO:0014708 biolink:NamedThing ring chromosome 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. tmpak2llvmy_mondo_relaxed.owl Ring 14|RING chromosome 14 syndrome|chromosome 14 ring|Ring chromosome type 14 MESH:C535487|SCTID:702345009|OMIM:616606|Orphanet:1440|ICD9:758.89|ICD10:Q93.2|GARD:0006072|UMLS:CN233170 https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 owl:Class OBO:CHR_9606-chr14 biolink:NamedThing chr14 (Human) tmpak2llvmy_mondo_relaxed.owl 107043718 0 hg38 owl:Class UBERON:0001168 biolink:NamedThing wall of small intestine An anatomical wall that is part of a small intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl small bowel anatomical wall|small bowel wall|small intestine anatomical wall|anatomical wall of small bowel|small intestine wall|small intestinal wall|anatomical wall of small intestine|wall of small bowel owl:Class MONDO:0011337 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 2 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene. tmpak2llvmy_mondo_relaxed.owl FHL2|Hlh2|familial hemophagocytic lymphohistiocytosis type 2|HPLH2|PRF1 genetic hemophagocytic lymphohistiocytosis|HLH2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|hemophagocytic lymphohistiocytosis, familial, type 2|Hplh2|hemophagocytic lymphohistiocytosis, familial, 2 DOID:0110922|OMIM:603553|GARD:0009922|MESH:C537250 https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2 owl:Class HGNC:9360 biolink:NamedThing PRF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004673 biolink:NamedThing trigeminal nerve root A nerve root that extends_fibers_into a trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl descending trigeminal root|trigeminal neural root|trigeminal nerve root|root of trigeminal nerve|root of trigeminal V nerve|radix descendens nervi trigemini owl:Class MONDO:0003801 biolink:NamedThing corneal intraepithelial neoplasm A squamous cell intraepithelial neoplasia that involves the cornea. tmpak2llvmy_mondo_relaxed.owl corneal intraepithelial neoplasia|cornea squamous cell intraepithelial neoplasia|intraepithelial neoplasia of the cornea|cornea intraepithelial neoplasia|intraepithelial neoplasia of cornea NCIT:C6093|DOID:6198|UMLS:C1333159|SCTID:420835009 owl:Class MONDO:0033856 biolink:NamedThing LAMA5-related multisystemic syndrome A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl Orphanet:521450 https://github.com/monarch-initiative/mondo/issues/3601 owl:Class HGNC:6485 biolink:NamedThing LAMA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:8000006 biolink:NamedThing WHIM syndrome 1 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). tmpak2llvmy_mondo_relaxed.owl Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|WILM|WHIMS|WHIM syndrome OMIM:193670|ICD10:D81.8|Orphanet:51636|GARD:0009297|SCTID:234571003|UMLS:C0472817|DOID:0060591|MESH:C536697 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome owl:Class HGNC:2561 biolink:NamedThing CXCR4 tmpak2llvmy_mondo_relaxed.owl owl:Class Na240d341d0004699979113f4a00de317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0005253 biolink:NamedThing head mesenchyme Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. tmpak2llvmy_mondo_relaxed.owl desmocranium|cranial mesenchyme|cephalic mesenchyme owl:Class NCBITaxon:11676 biolink:NamedThing Human immunodeficiency virus 1 tmpak2llvmy_mondo_relaxed.owl LAV-1|HIV|human immunodeficiency virus type 1 HIV 1|HIV-1|human immunodeficiency virus-1 HIV-1|human immunodeficiency virus type-1 HIV-1|HIV1|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus type I HIV-1|human immunodeficiency virus HIV-1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus 1 HIV-1|Human immunodeficiency virus type 1|human immunodeficiency virus type 1 HIV1|AIDS virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013998 biolink:NamedThing MEGF8-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. tmpak2llvmy_mondo_relaxed.owl Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome type 2|CARPENTER syndrome 2|MEGF8 Carpenter syndrome|CRPT2|Carpenter syndrome 2 OMIM:614976|UMLS:C3554247 owl:Class HGNC:3233 biolink:NamedThing MEGF8 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003886 biolink:NamedThing future coelemic cavity lumen An anatomical cavity that has the potential to develop into a coelemic cavity lumen. tmpak2llvmy_mondo_relaxed.owl body cavity precursor owl:Class MONDO:0002828 biolink:NamedThing Bartholin gland transitional cell carcinoma A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. tmpak2llvmy_mondo_relaxed.owl Bartholin's gland transitional cell carcinoma|Bartholin gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma UMLS:C1511053|NCIT:C40297|DOID:3998 owl:Class UBERON:0000108 biolink:NamedThing blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016726 biolink:NamedThing neuronal tumor tmpak2llvmy_mondo_relaxed.owl UMLS:CN201974|Orphanet:251924 owl:Class MONDO:0014912 biolink:NamedThing infantile-onset periodic fever-panniculitis-dermatosis syndrome tmpak2llvmy_mondo_relaxed.owl otulin-related autoinflammatory syndrome|autoinflammation, panniculitis and dermatosis syndrome|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome|AIPDS|ORAS|otulipenia|otulin deficiency|Autoinflammation, panniculitis, and dermatosis syndrome DOID:0080163|Orphanet:500062|GARD:0013198|OMIM:617099|SCTID:765435009|UMLS:C4310614 https://rarediseases.info.nih.gov/diseases/13198/otulipenia owl:Class CHEBI:25367 biolink:NamedThing molecule Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. tmpak2llvmy_mondo_relaxed.owl Molekuel|neutral molecular compounds|molecule|molecula|molecules owl:Class OBO:CHR_9606-chrXp21 biolink:NamedThing chrXp21 (Human) tmpak2llvmy_mondo_relaxed.owl 37800000 24900000 hg38 owl:Class OBO:CHR_9606-chrXp2 biolink:NamedThing chrXp2 (Human) tmpak2llvmy_mondo_relaxed.owl 37800000 0 hg38 owl:Class GO:2000836 biolink:NamedThing positive regulation of androgen secretion Any process that activates or increases the frequency, rate or extent of androgen secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035935 biolink:NamedThing androgen secretion The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009252 biolink:NamedThing essential fructosuria Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. tmpak2llvmy_mondo_relaxed.owl ketohexokinase deficiency|fructosuria, essential|hepatic fructokinase deficiency|fructokinase deficiency ICD10:E74.11|SCTID:40278002|DOID:0111680|OMIM:229800|Orphanet:2056|UMLS:C0268160|MESH:C538068|MedDRA:10015487|ICD10:E74.1 owl:Class HGNC:6315 biolink:NamedThing KHK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008648 biolink:NamedThing ventricular tachycardia, familial An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary ventricular tachycardia|ventricular tachycardia, familial|familial ventricular tachycardia|ventricular tachycardia, familial polymorphic SCTID:233906007|OMIM:192605|GARD:0002263 owl:Class HGNC:4385 biolink:NamedThing GNAI2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006288 biolink:NamedThing rib cartilage element A rib endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006289 biolink:NamedThing rib pre-cartilage condensation A rib endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018861 biolink:NamedThing Zellweger-like syndrome without peroxisomal anomalies Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl AHN-Lerman-Sagie syndrome SCTID:718880003|ICD10:Q87.8|UMLS:CN205183|UMLS:C4305104|Orphanet:50812 owl:Class MONDO:0019609 biolink:NamedThing Zellweger spectrum disorders Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. tmpak2llvmy_mondo_relaxed.owl ZS|congenital iron overload|cerebrohepatorenal syndrome|ZWS|Zellweger syndrome|Zellweger leukodystrophy|Zellweger spectrum disorders GARD:0007917|NCIT:C85239|SCTID:88469006|Orphanet:912|ICD10:E71.510|UMLS:C0043459|ICD10:Q87.8|DOID:905|MESH:D015211 Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 https://github.com/monarch-initiative/mondo/pull/2571/|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:5133 biolink:NamedThing HOXD10 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010801 biolink:NamedThing calcaneum pre-cartilage condensation A calcaneum endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl calcaneous pre-cartilage condensation owl:Class UBERON:0004933 biolink:NamedThing submucosa of fundus of stomach A submucosa that is part of a fundus of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl stomach fundus submucosa|fundus gastricus (ventricularis) submucosa|submucosa of stomach fundus|submucosa of fundus gastricus (ventricularis)|fundus of stomach submucosa owl:Class UBERON:0011574 biolink:NamedThing mesonephric duct lumen A tube lumen that is part of a mesonephric duct. tmpak2llvmy_mondo_relaxed.owl nephric duct lumen|cavity of nephric duct owl:Class GO:0000226 biolink:NamedThing microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpak2llvmy_mondo_relaxed.owl microtubule cytoskeleton organisation|microtubule cytoskeleton organization and biogenesis|microtubule dynamics owl:Class NCBITaxon:8782 biolink:NamedThing Aves tmpak2llvmy_mondo_relaxed.owl birds|avian GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012062 biolink:NamedThing dilated cardiomyopathy 1O Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, with ventricular tachycardia|ABCC9 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|CMD1O|cardiomyopathy, dilated, type 1O|dilated cardiomyopathy type 1O|dilated cardiomyopathy with ventricular tachycardia|cardiomyopathy, dilated, 1O ICD10:I42.0|MESH:C563906|UMLS:C1837839|OMIM:608569|DOID:0110451 owl:Class UBERON:0002137 biolink:NamedThing aortic valve Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] tmpak2llvmy_mondo_relaxed.owl valva aortae owl:Class MONDO:0013580 biolink:NamedThing pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. tmpak2llvmy_mondo_relaxed.owl PDHBD|pyruvate dehydrogenase E1-beta deficiency|pyruvate dehydrogenase E1-BETA deficiency|pyruvate dehydrogenase complex E1 component subunit beta deficiency ICD10:E74.4|MESH:C566729|Orphanet:255138|UMLS:C3279841|OMIM:614111 owl:Class ECTO:8000000 biolink:NamedThing exposure to environmental process A exposure event involving the interaction of an exposure receptor to environmental system process. tmpak2llvmy_mondo_relaxed.owl environmental system process exposure owl:Class MONDO:0014780 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 6 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. tmpak2llvmy_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome type 6|hyperphosphatasia with intellectual disability syndrome 6|glycosylphosphatidylinositol biosynthesis defect 12|PIGY hyperphosphatasia-intellectual disability syndrome|HPMRS6|hyperphosphatasia with mental retardation syndrome type 6|hyperphosphatasia with mental retardation syndrome 6 UMLS:C4225201|OMIM:616809 owl:Class HGNC:28213 biolink:NamedThing PIGY tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010564 biolink:NamedThing regulation of cell cycle process Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000337 biolink:NamedThing exanthema subitum An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. tmpak2llvmy_mondo_relaxed.owl roseola Infantum|pseudorubella|exanthem subitum|roseola|sixth disease ICD9:058.1|ICD10:B08.20|DOID:0050495|NCIT:C128420|MESH:D005077|ICD9:057.8|ICD10:B08.2|EFO:1001320|UMLS:C0015231|SCTID:54385001|UMLS:C0595993|ICD9:058.10 owl:Class NCBITaxon:10368 biolink:NamedThing Human betaherpesvirus 6 tmpak2llvmy_mondo_relaxed.owl Herpesvirus type 6|HHV6|HHV-6|human herpesvirus 6 HHV-6|Human herpesvirus type 6|human herpesvirus type 6 HHV-6|herpes simplex virus type 6|Human herpesvirus 6|herpesvirus 6 HHV-6 GC_ID:1 NCBITaxon:41670 ncbi_taxonomy owl:Class UBERON:0003620 biolink:NamedThing manual digit 1 phalanx A phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl manual digit I phalanx|thumb phalanx|phalanx of hand digit 1|phalanx of thumb|fore limb digit 1 phalanx|hand digit 1 phalanx owl:Class MONDO:0008174 biolink:NamedThing pachyonychia congenita 2 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. tmpak2llvmy_mondo_relaxed.owl KRT17 pachyonychia congenita|pachyonychia congenita type 2|PC2|pachyonychia congenita caused by mutation in KRT17|pachyonychia congenita, Jackson-Lawler type|pachyonychia congenita 2|pachyonychia congenita, Jackson-Lawler type, formerly OMIM:167210 owl:Class HGNC:6427 biolink:NamedThing KRT17 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002160 biolink:NamedThing Hyperhomocystinemia An increased concentration of homocystine in the blood. tmpak2llvmy_mondo_relaxed.owl Homocystinemia|Elevated blood homocystine UMLS:C3806347 Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. human_phenotype owl:Class MONDO:0008476 biolink:NamedThing spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). tmpak2llvmy_mondo_relaxed.owl Smed, Strudwick type|Smed, type 1|spondyloepimetaphyseal dysplasia Strudwick type|spondyloepimetaphyseal dysplasia, Strudwick type|SEMDSTWK|spondylometaphyseal dysplasia|dappled metaphysis syndrome|spondyloepimetaphyseal dysplasia congenita, Strudwick type|spondylometaepiphyseal dysplasia congenita, Strudwick type|SMED Strudwick type|Semdc|Strudwick syndrome|SEMD, Strudwick type|SMED type 1|SmD OMIM:184250|ICD9:758.89|GARD:0000134|DOID:0080028|ICD10:Q77.7|Orphanet:93346|SCTID:702350003 https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type owl:Class ENVO:01001086 biolink:NamedThing formation of a solid aerosol in an atmosphere A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere. tmpak2llvmy_mondo_relaxed.owl formation of solid particles in an atmosphere owl:Class GO:1900132 biolink:NamedThing positive regulation of lipid binding Any process that activates or increases the frequency, rate or extent of lipid binding. tmpak2llvmy_mondo_relaxed.owl upregulation of lipid binding|up regulation of lipid binding|activation of lipid binding|up-regulation of lipid binding owl:Class GO:0008289 biolink:NamedThing lipid binding Binding to a lipid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012880 biolink:NamedThing hypogonadotropic hypogonadism 5 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. tmpak2llvmy_mondo_relaxed.owl CHD7 hypogonadotropic hypogonadism|Kallmann syndrome 5|hypogonadotropic hypogonadism 5 with or without anosmia|HH5|KAL5|hypogonadotropic hypogonadism caused by mutation in CHD7 UMLS:C3552553|GARD:0010773|ICD10:E23.0|MESH:C567220|OMIM:612370|DOID:0090084 https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 owl:Class HGNC:20626 biolink:NamedThing CHD7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004035 biolink:NamedThing cortical subplate The transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate tmpak2llvmy_mondo_relaxed.owl cerebral cortex subplate|subplate|SP|subplate zone owl:Class MONDO:0017940 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. tmpak2llvmy_mondo_relaxed.owl CMT2 due to KIF5A mutation Orphanet:324611|ICD10:G60.0|SCTID:764730007|UMLS:CN204086 owl:Class HGNC:6323 biolink:NamedThing KIF5A tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000381 biolink:NamedThing neurosecretory neuron tmpak2llvmy_mondo_relaxed.owl FBbt:00005130 cell owl:Class MONDO:0013333 biolink:NamedThing odontoid hypoplasia An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. tmpak2llvmy_mondo_relaxed.owl odontoid hypoplasia OMIM:613628|NCIT:C86969 owl:Class UBERON:0001499 biolink:NamedThing muscle of arm A muscle organ that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl upper arm / lower arm muscle|arm muscle|muscle of upper arm or lower arm|arm skeletal muscle|arm skeletal muscle tissue|arm muscle system owl:Class UBERON:0004474 biolink:NamedThing musculature of arm Any collection of muscles that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of muscles of arm|arm muscle system|arm musculature|muscle group of arm owl:Class CHEBI:138015 biolink:NamedThing endocrine disruptor Any compound that can disrupt the functions of the endocrine (hormone) system tmpak2llvmy_mondo_relaxed.owl endocrine-disrupting chemical|endocrine disrupting compound|endocrine disrupting chemicals|hormonally active agents|endocrine disruptors|endocrine-disrupting chemicals|endocrine disrupting compounds|endocrine disrupting chemical|hormonally active agent owl:Class UBERON:0006211 biolink:NamedThing buccopharyngeal membrane The thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx. tmpak2llvmy_mondo_relaxed.owl oral membrane|oropharyngeal membrane|pharyngeal membrane|oral plate owl:Class UBERON:0006937 biolink:NamedThing inner ear epithelium the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009962 biolink:NamedThing Senior-Loken syndrome 1 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. tmpak2llvmy_mondo_relaxed.owl Senior-Loken syndrome|SENIOR-Loken syndrome 1|renal-retinal syndrome|renal dysplasia and retinal aplasia|Senior-Loken syndrome type 1|SLSN1|NPHP1 Senior-Loken syndrome|Senior-Loken syndrome 1|Loken-Senior syndrome|Senior-Loken syndrome caused by mutation in NPHP1|juvenile nephronophthisis with Leber amaurosis OMIM:266900|ICD9:759.89|SCTID:236531005 owl:Class MONDO:0003694 biolink:NamedThing ovarian clear cell cystadenofibroma A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. tmpak2llvmy_mondo_relaxed.owl ovarian clear cell cystadenofibroma|clear cell cystadenofibroma of ovary|ovary clear cell cystadenofibroma NCIT:C40086|UMLS:C1518695|DOID:5896 owl:Class CHEBI:27177 biolink:NamedThing L-tyrosine derivative A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom. tmpak2llvmy_mondo_relaxed.owl L-tyrosine derivatives owl:Class MONDO:0012860 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal recessive tmpak2llvmy_mondo_relaxed.owl THPH4|thrombophilia due to protein C deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|autosomal recessive protein C deficiency|autosomal recessive hereditary thrombophilia due to protein C deficiency|hereditary thrombophilia due to congenital protein C deficiency|Proc deficiency, autosomal recessive|thrombophilia due to PROTEIN C deficiency, autosomal recessive|Protein C deficiency, autosomal recessive OMIM:612304|UMLS:C2676759|GARD:0013041|MESH:C567353 owl:Class MONDO:0011417 biolink:NamedThing hemochromatosis type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpak2llvmy_mondo_relaxed.owl TFR2 hereditary hemochromatosis|hemochromatosis, type 3|TFR2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2|hereditary hemochromatosis caused by mutation in TFR2|hemochromatosis type 3|HFE3 SCTID:719974003|ICD10:E83.1|Orphanet:225123|MESH:C537248|GARD:0010093|UMLS:C1858664|DOID:0111030|OMIM:604250 https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 owl:Class HGNC:11762 biolink:NamedThing TFR2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34625 biolink:NamedThing Hyalomma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006235 biolink:NamedThing foregut-midgut junction An anatomical junctions that overlaps the foregut and midgut. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010806 biolink:NamedThing retinitis pigmentosa 13 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. tmpak2llvmy_mondo_relaxed.owl PRPF8 retinitis pigmentosa|retinitis pigmentosa 13|RP 13|retinitis pigmentosa caused by mutation in PRPF8|RP13|retinitis pigmentosa type 13 ICD10:H35.5|GARD:0010388|DOID:0110403|OMIM:600059|MESH:C564008|UMLS:C1838702 https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13 owl:Class HGNC:17340 biolink:NamedThing PRPF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044211 biolink:NamedThing idiopathic urticaria tmpak2llvmy_mondo_relaxed.owl idiopathic angioedema-urticaria UMLS:C0157741|SCTID:42265009|ICD9:708.1|ICD10:L50.1 owl:Class MONDO:0014494 biolink:NamedThing psoriasis 15, pustular, susceptibility to Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene. tmpak2llvmy_mondo_relaxed.owl psoriasis 15, pustular, susceptibility to|AP1S3 generalized pustular psoriasis|PSORS15|generalized pustular psoriasis caused by mutation in AP1S3|susceptibility to pustular psoriasis 15 DOID:0111281|OMIM:616106 owl:Class HGNC:791 biolink:NamedThing ATF6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002412 biolink:NamedThing vertebra The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebra bone|vertebrae owl:Class UBERON:0001130 biolink:NamedThing vertebral column Subdivision of skeletal system that consists of all the vertebra and associated skeletal elements and joints in the body[modified from VSAO]. tmpak2llvmy_mondo_relaxed.owl spinal column|columna vertebralis|vertebral region|backbone|spine|dorsal spine|vertebral column skeleton owl:Class GO:1901522 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus. tmpak2llvmy_mondo_relaxed.owl up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus owl:Class MONDO:0044343 biolink:NamedThing cervical disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the cervical spine. tmpak2llvmy_mondo_relaxed.owl cervical Disc Degeneration|cervical Disc degenerative disease|cervical region of vertebral column intervertebral disc degenerative disorder|degeneration of cervical intervertebral disc|cervical Disc degenerative disorder|intervertebral disc degenerative disorder of cervical region of vertebral column NCIT:C27156|UMLS:C0158262|SCTID:69195002|UMLS:C0410606 owl:Class UBERON:0006072 biolink:NamedThing cervical region of vertebral column That portion of the spine comprising the cervical vertebrae. The neck area of the spine. tmpak2llvmy_mondo_relaxed.owl cervical vertebral column|cervical skeleton|cervical spinal column|skeletal system of neck|axial skeleton cervical region|cervical spine|cervical vertebrae series owl:Class MONDO:0022762 biolink:NamedThing chromosome 4 short arm deletion tmpak2llvmy_mondo_relaxed.owl 4p deletion|4p monosomy|chromosome 4p deletion|deletion 4p|partial monosomy 4p|monosomy 4p GARD:0006090|ICD10:Q93.3|MESH:C537637 owl:Class OBO:CHR_9606-chr4p biolink:NamedThing chr4p (Human) tmpak2llvmy_mondo_relaxed.owl 50000000 0 hg38 owl:Class ENVO:01000276 biolink:NamedThing ecoregion A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000280 biolink:NamedThing ecozone Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000324 biolink:NamedThing duodenal goblet cell A goblet cell that is part of the epithelium proper of duodenum. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium proper of duodenum FMA:263063 cell owl:Class CHEBI:61951 biolink:NamedThing microtubule-destabilising agent Any substance that interacts with tubulin to inhibit polymerisation of microtubules. tmpak2llvmy_mondo_relaxed.owl microtubule destabilising agent|microtubule-destabilizing agents|microtubule-destabilizing agent|microtubule-destabilising agents|microtubule destabilizing role|microtubule destabilising agents|microtubule destabilising role owl:Class MONDO:0004294 biolink:NamedThing gestational ovarian choriocarcinoma A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. tmpak2llvmy_mondo_relaxed.owl gestational ovarian choriocarcinoma UMLS:C1517538|DOID:7591|NCIT:C40442 owl:Class MONDO:0024888 biolink:NamedThing mesonephric neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpak2llvmy_mondo_relaxed.owl neoplasm of mesonephric duct|mesonephric duct neoplasm|mesonephric tumor|mesonephroma|mesonephric duct tumor|mesonephric neoplasm|Wolffian duct tumor|Wolffian duct neoplasm|tumor of mesonephric duct ICDO:9110/1|NCIT:C4295 owl:Class MONDO:0007739 biolink:NamedThing Huntington disease Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. tmpak2llvmy_mondo_relaxed.owl HD|Huntington's chorea|Huntington chorea|Huntington disease|Huntington's disease DOID:12858|UMLS:C0020179|ICD9:333.4|NCIT:C82342|ICD10:G10|KEGG:05016|SCTID:58756001|GARD:0006677|Orphanet:399|OMIM:143100|MedDRA:10070668 owl:Class HP:0000657 biolink:NamedThing Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. tmpak2llvmy_mondo_relaxed.owl Ocular motor apraxia|Defective or absent horizontal voluntary eye movements UMLS:C3489733|UMLS:C4020886|SNOMEDCT_US:193662007|MSH:C537423 Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. HP:0000628|HP:0007764 human_phenotype owl:Class MONDO:0013609 biolink:NamedThing Meckel syndrome, type 10 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. tmpak2llvmy_mondo_relaxed.owl B9D2 Meckel syndrome|Meckel syndrome caused by mutation in B9D2|JBTS34|Meckel syndrome, type 10|MKS10|Joubert syndrome 34 GTR:AN1012610|UMLS:CN620433|GTR:AN1012156|OMIM:614175|UMLS:C3280036 owl:Class HGNC:28636 biolink:NamedThing B9D2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005062 biolink:NamedThing neural fold One of the two elevated edges of the neural groove[GO,MP]. tmpak2llvmy_mondo_relaxed.owl medullary fold owl:Class UBERON:0004067 biolink:NamedThing lateral nasal prominence The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it tmpak2llvmy_mondo_relaxed.owl lateral nasal swelling|lateral nasal process|prominentia nasalis lateralis|latero-nasal process owl:Class CHEBI:6067 biolink:NamedThing isotretinoin A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases. tmpak2llvmy_mondo_relaxed.owl Claravis|isotretinoinum|Neovitamin A acid|Accutane|13-RA|Amnesteem|isotretinoine|(7E,9E,11E,13Z)-retinoic acid|isotretinoino|13-cis-Vitamin A acid|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|isotretinoina|isotretinoin|cis-RA|13-cis-retinoic acid owl:Class MONDO:0010079 biolink:NamedThing Canavan disease A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. tmpak2llvmy_mondo_relaxed.owl Canavan-VAN Bogaert-Bertrand disease|Von Bogaert-Bertrand disease|spongy degeneration of central nervous system|Canavan-Van Bogaert-Bertrand disease|aspartoacylase deficiency|aminoacylase 2 deficiency|Acy2 deficiency|Asp deficiency|spongy degeneration of the brain|spongy Degeneration of central nervous system|ACY2 deficiency|Aspa deficiency|spongy degeneration of the central nervous system|Canavan disease Orphanet:141|OMIM:271900|MedDRA:10067608|ICD10:E75.2|SCTID:80544005|MESH:D017825|NCIT:C84611|UMLS:C0206307|DOID:3613|GARD:0005984 https://rarediseases.info.nih.gov/diseases/5984/canavan-disease owl:Class HGNC:756 biolink:NamedThing ASPA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905653 biolink:NamedThing positive regulation of artery morphogenesis Any process that activates or increases the frequency, rate or extent of artery morphogenesis. tmpak2llvmy_mondo_relaxed.owl upregulation of arterial morphogenesis|activation of arteriogenesis|up regulation of artery morphogenesis|positive regulation of arteriogenesis|up-regulation of arterial morphogenesis|up regulation of arterial morphogenesis|upregulation of artery morphogenesis|positive regulation of arterial morphogenesis|up regulation of arteriogenesis|upregulation of arteriogenesis|up-regulation of artery morphogenesis|up-regulation of arteriogenesis|activation of artery morphogenesis|activation of arterial morphogenesis owl:Class MONDO:0044212 biolink:NamedThing chronic idiopathic urticaria Chronic form of idiopathic urticaria. tmpak2llvmy_mondo_relaxed.owl idiopathic urticaria, chronic|chronic idiopathic urticaria UMLS:C0578870|SCTID:302162004 owl:Class HGNC:12786 biolink:NamedThing WNT7A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005945 biolink:NamedThing neurocranial trabecula tmpak2llvmy_mondo_relaxed.owl trabecular cartilage|trabecula|neurocranial trabeculae owl:Class UBERON:0003112 biolink:NamedThing olfactory region Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. tmpak2llvmy_mondo_relaxed.owl ethmoid region owl:Class MONDO:0018784 biolink:NamedThing pediatric multiple sclerosis Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. tmpak2llvmy_mondo_relaxed.owl pediatric MS|multiple sclerosis, pediatric|MS pediatric GARD:0010443|UMLS:CN037005|Orphanet:477738 https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis owl:Class HGNC:8620 biolink:NamedThing PAX6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024493 biolink:NamedThing tumor grade 3, general grading system A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. tmpak2llvmy_mondo_relaxed.owl grade III|G3|high grade|poorly differentiated|grade 3 NCIT:C28079|UMLS:C0475271 owl:Class UBERON:0000929 biolink:NamedThing pharyngeal branch of vagus nerve Motor nerve of the pharynx, arises from the upper part of the ganglion nodosum, and consists principally of filaments from the cranial portion of the accessory nerve. tmpak2llvmy_mondo_relaxed.owl ramus pharyngeus|pharyngeal branch of vagus|pharyngeal branch|vagal pharyngeal branch|tenth cranial nerve pharyngeal branch|ramus pharyngealis nervi vagalis|pharyngeal branch of inferior vagal ganglion|vagus nerve pharyngeal branch|ramus pharyngeus nervi vagi owl:Class MONDO:0012868 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal dominant Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. tmpak2llvmy_mondo_relaxed.owl THPH5|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|protein S acquired deficiency|thrombophilia due to protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency OMIM:612336|Orphanet:26349|MedDRA:10068370|UMLS:C3278211|MESH:C567077|ICD10:D68.8 Note that ORDO appears to classify as hereditary and acquired. owl:Class HGNC:9456 biolink:NamedThing PROS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006875 biolink:NamedThing embryonic handplate the distal elements of the developing limb of vertebrates that will give rise to the manus (hand) tmpak2llvmy_mondo_relaxed.owl distal part of forelimb bud|handplate|hand plate owl:Class CL:1000444 biolink:NamedThing mesothelial cell of anterior chamber of eye A mesothelial cell that is part of the anterior chamber of eyeball. tmpak2llvmy_mondo_relaxed.owl FMA:70615 cell owl:Class UBERON:0001766 biolink:NamedThing anterior chamber of eyeball the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens tmpak2llvmy_mondo_relaxed.owl camera oculi anterior|anterior chamber|anterior chamber of eye|camera anterior|camera anterior bulbi|camera anterior bulbi oculi|eye anterior chamber owl:Class MONDO:0002650 biolink:NamedThing scrotal carcinoma A carcinoma that arises from epithelial cells of the scrotum. tmpak2llvmy_mondo_relaxed.owl cancer of the scrotum|cancer of scrotum|carcinoma of the scrotum|carcinoma of scrotum|scrotum carcinoma|scrotal cancer NCIT:C6389|DOID:3445|UMLS:C1370468 owl:Class MONDO:8000002 biolink:NamedThing escherichia coli discitis Discitis caused by infection with Escherichia coli. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:562 biolink:NamedThing Escherichia coli tmpak2llvmy_mondo_relaxed.owl Bacterium coli commune|E. coli|Bacterium coli|Enterococcus coli|Escherichia/Shigella coli|Bacillus coli GC_ID:11|PMID:10319482 NCBITaxon:1637691|NCBITaxon:662104|NCBITaxon:469598|NCBITaxon:662101 ncbi_taxonomy owl:Class UBERON:0000351 biolink:NamedThing nuchal ligament A fibrous membrane, which, in the neck, represents the supraspinal ligaments of the upper vertebrae. tmpak2llvmy_mondo_relaxed.owl ligament of neck|paddywhack|ligamentum nuchae|paxwax owl:Class UBERON:0004872 biolink:NamedThing splanchnic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. tmpak2llvmy_mondo_relaxed.owl inner layer of lateral plate mesoderm|splanchnic mesoderm|visceral mesoderm owl:Class MONDO:0013895 biolink:NamedThing Adams-Oliver syndrome 3 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene. tmpak2llvmy_mondo_relaxed.owl Adams-Oliver syndrome type 3|Adams-Oliver syndrome caused by mutation in RBPJ|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome 3|AOS3 OMIM:614814|UMLS:C3553748 owl:Class HGNC:20858 biolink:NamedThing SLC39A14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012987 biolink:NamedThing agammaglobulinemia 6, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. tmpak2llvmy_mondo_relaxed.owl CD79B autosomal agammaglobulinemia|AGM6|agammaglobulinemia 6, autosomal recessive|agammaglobulinemia, autosomal recessive, due to Cd79B defect|autosomal agammaglobulinemia caused by mutation in CD79B UMLS:C3150207|OMIM:612692 owl:Class MONDO:0018561 biolink:NamedThing precocious puberty in female A precocious puberty that involves the female organism. tmpak2llvmy_mondo_relaxed.owl female organism precocious puberty|precocious puberty of female organism Orphanet:435561|HP:0010465|UMLS:C0271616 owl:Class MONDO:0001378 biolink:NamedThing urachus cancer A malignant neoplasm involving the urachus. tmpak2llvmy_mondo_relaxed.owl malignant urachus neoplasm|malignant tumor of urachus|malignant neoplasm of urachus|urachus cancer|cancer of urachus DOID:11817|UMLS:C0153615|ICD9:188.7|SCTID:363456000|ICD10:C67.7 owl:Class GO:0045578 biolink:NamedThing negative regulation of B cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of B cell differentiation|down-regulation of B cell differentiation|downregulation of B cell differentiation|down regulation of B cell differentiation|negative regulation of B-lymphocyte differentiation|negative regulation of B-cell differentiation|negative regulation of B lymphocyte differentiation|negative regulation of B cell development owl:Class UBERON:0014371 biolink:NamedThing future telencephalon Embryonic structure that gives rise to the telencephalon. tmpak2llvmy_mondo_relaxed.owl presumptive telencephalon owl:Class MONDO:0021449 biolink:NamedThing benign neoplasm of stomach A benign neoplasm that involves the stomach. tmpak2llvmy_mondo_relaxed.owl benign gastric neoplasm|gastric tumors, benign|benign stomach tumors|benign tumors of stomach|benign tumor of stomach|benign tumor of the stomach|benign tumors of the stomach|gastric neoplasms, benign|stomach benign neoplasm|benign gastric tumor|stomach tumors, benign|benign gastric tumors|benign neoplasm of the stomach|benign stomach neoplasms|stomach neoplasms, benign UMLS:C0153943|ICD10:D13.1|SCTID:92411005|ICD9:211.1|NCIT:C3599 owl:Class UBERON:0012081 biolink:NamedThing patella pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a patella. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019217 biolink:NamedThing regulation of fatty acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpak2llvmy_mondo_relaxed.owl regulation of fatty acid metabolism owl:Class GO:0006631 biolink:NamedThing fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. tmpak2llvmy_mondo_relaxed.owl fatty acid metabolism owl:Class MONDO:0001651 biolink:NamedThing scrotum squamous cell carcinoma A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of scrotum|squamous cell carcinoma of the scrotum|scrotum squamous cell carcinoma|scrotal squamous cell carcinoma DOID:13159|UMLS:C0349551|SCTID:276860003|NCIT:C4643 owl:Class UBERON:0007270 biolink:NamedThing pelvic appendage musculature Any collection of muscles that is part of a pelvic appendage. tmpak2llvmy_mondo_relaxed.owl pelvic fin musculature owl:Class MONDO:0012946 biolink:NamedThing intellectual disability, autosomal dominant 3 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant type 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|intellectual disability, autosomal dominant 3|intellectual disability, autosomal dominant type 3|MRD3|mental retardation, autosomal dominant 3|autosomal dominant non-syndromic intellectual disability 3|autosomal dominant intellectual disability 3|autosomal dominant mental retardation 3|CDH15 autosomal dominant non-syndromic intellectual disability MESH:C567241|DOID:0070033|UMLS:C2675488|OMIM:612580 owl:Class MONDO:0015212 biolink:NamedThing syndromic intestinal malformation A intestinal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic intestinal malformation|syndrome associated with intestinal malformation UMLS:CN226629|Orphanet:108969 owl:Class GO:0006413 biolink:NamedThing translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpak2llvmy_mondo_relaxed.owl biopolymerization|protein synthesis initiation|translation initiation|biopolymerisation owl:Class MONDO:0011323 biolink:NamedThing arhinia, choanal atresia, and microphthalmia tmpak2llvmy_mondo_relaxed.owl BAMS|BOSMA arhinia microphthalmia syndrome|Bosma arhinia microphthalmia syndrome|arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|arhinia, choanal atresia, and microphthalmia OMIM:603457|MESH:C537429|SCTID:720511000 owl:Class HGNC:29090 biolink:NamedThing SMCHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006203 biolink:NamedThing extrahepatic bile duct squamous cell carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl squamous cell bile duct carcinoma|squamous cell carcinoma of bile duct|bile duct squamous cell carcinoma|extrahepatic bile duct squamous cell carcinoma|squamous cell carcinoma of the bile duct NCIT:C5777|EFO:1000248 owl:Class MONDO:0013755 biolink:NamedThing PYCR1-related de Barsy syndrome Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. tmpak2llvmy_mondo_relaxed.owl pyrroline-5-carboxylate reductase 1 deficiency|PYCR1 de Barsy syndrome|PYCR1 deficiency|autosomal recessive cutis laxa type IIIB|cutis laxa, autosomal recessive, type IIIB|de Barsy syndrome caused by mutation in PYCR1|De Barsy syndrome B|ARCL3B|cutis laxa, autosomal recessive, type 3B UMLS:C3280799|DOID:0070138|Orphanet:293633|ICD10:Q87.8|OMIM:614438|ICD10:Q82.8 owl:Class MONDO:0002464 biolink:NamedThing lacrimal gland cancer A malignant neoplasm involving the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl cancer of lacrimal gland|lacrimal gland cancer|malignant lacrimal gland neoplasm|malignant tumor of lacrimal gland|malignant lacrimal gland tumor|tumor of the lacrimal gland|malignant neoplasm of lacrimal gland|malignant neoplasm of the lacrimal gland|malignant tumor of the lacrimal gland|malignant tumour of lacrimal gland ICD9:190.2|NCIT:C3563|DOID:294|ICD9:239.89|SCTID:127004000 owl:Class MONDO:0011377 biolink:NamedThing long QT syndrome 3 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpak2llvmy_mondo_relaxed.owl long QT syndrome 3/6, digenic|long QT syndrome caused by mutation in SCN5A|long QT syndrome 3|SCN5A long QT syndrome|long QT syndrome 3, acquired, susceptibility to|long QT syndrome type 3|long QT syndrome 2/3, digenic|LQT3 MESH:C565840|NCIT:C137959|GARD:0003286|ICD10:I45.8|UMLS:C1859062|DOID:0110646|OMIM:603830|UMLS:C2931401 https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 owl:Class UBERON:0015007 biolink:NamedThing cervical vertebra endochondral element A vertebral endochondral element in the cervical region of the vertebral column. tmpak2llvmy_mondo_relaxed.owl cervical vertebra skeletal element|cervical vertebra element owl:Class MONDO:0007288 biolink:NamedThing cataract 6 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene. tmpak2llvmy_mondo_relaxed.owl age related cortical cataract 2|ARCC2|Posterior polar cataract, 1|EPHA2 cataract (disease)|cataract (disease) caused by mutation in EPHA2|CTPP|CTPP1|cataract, age-related cortical, 2|posterior polar cataract 1|cataract 6, multiple types|CTPA|cataract, posterior polar, 1|CTRCT6 GARD:0010234|OMIM:116600|DOID:0110229|ICD10:Q12.0 owl:Class HGNC:3386 biolink:NamedThing EPHA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005477 biolink:NamedThing stomach fundus epithelium A simple columnar epithelium that is part of a fundus of stomach. tmpak2llvmy_mondo_relaxed.owl gastric fundus epithelium|gastric epithelium of fundus|epithelium of fundus of stomach owl:Class MONDO:0021059 biolink:NamedThing head or neck disease/disorder Any disease or disorder affecting the head and/or neck region. tmpak2llvmy_mondo_relaxed.owl disorder of craniocervical region|disease of craniocervical region|craniocervical region disease or disorder|disease or disorder of craniocervical region|head and neck disorder|craniocervical region disease|head or neck disorder NCIT:C27571|UMLS:C1333941 owl:Class UBERON:0000988 biolink:NamedThing pons The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. tmpak2llvmy_mondo_relaxed.owl pons Varolii|pons of Varolius|pons cerebri owl:Class UBERON:0005417 biolink:NamedThing forelimb bud A limb bud that develops into a forelimb. tmpak2llvmy_mondo_relaxed.owl anterior limb bud|arm bud|limb bud - forelimb|upper limb bud|wing bud owl:Class MONDO:0009152 biolink:NamedThing ectopia lentis 2, isolated, autosomal recessive An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. tmpak2llvmy_mondo_relaxed.owl autosomal recessive isolated ectopia lentis 2|ectopia lentis, isolated autosomal recessive|ectopia lentis 2, isolated, autosomal recessive|autosomal recessive isolated ectopia lentis|ECTOL2 UMLS:C3541474|GARD:0002060|OMIM:225100|DOID:0111149 owl:Class HGNC:19706 biolink:NamedThing ADAMTSL4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2481 biolink:NamedThing CSTA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013350 biolink:NamedThing mitochondrial DNA depletion syndrome 4b tmpak2llvmy_mondo_relaxed.owl Mngie, Polg-related|MTDPS4B|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|mitochondrial DNA depletion syndrome 4B (MNGIE type)|mitochondrial DNA depletion syndrome type 4b DOID:0080123|UMLS:C3150914|OMIM:613662 owl:Class HGNC:9179 biolink:NamedThing POLG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004663 biolink:NamedThing aorta wall An anatomical wall that is part of an aorta, enclosing the luminal space. tmpak2llvmy_mondo_relaxed.owl wall of aorta|aortic wall owl:Class MONDO:0013917 biolink:NamedThing nephronophthisis 15 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. tmpak2llvmy_mondo_relaxed.owl CEP164 nephronophthisis (disease)|nephronophthisis type 15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164|NPHP15 UMLS:C3541853|OMIM:614845|DOID:0111123 owl:Class HGNC:29182 biolink:NamedThing CEP164 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014125 biolink:NamedThing symphalangism, proximal, 1B Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. tmpak2llvmy_mondo_relaxed.owl proximal symphalangism (disease) caused by mutation in GDF5|GDF5 proximal symphalangism (disease)|SYM1B|symphalangism, proximal, 1B|symphalangism, proximal, type 1B UMLS:C3809104|OMIM:615298 owl:Class UBERON:0013705 biolink:NamedThing fascia of Scarpa The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall. tmpak2llvmy_mondo_relaxed.owl membranous layer of subcutaneous tissue of abdomen|fascia of Scarpa|membranous layer of superficial fascia of abdomen|Colles fascia|deep layer of superficial fascia of abdomen|Scarpa's fascia|stratum membranosum telae subcutaneae abdominis|Colles' fascia owl:Class PO:0020144 biolink:NamedThing apical meristem A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025). tmpak2llvmy_mondo_relaxed.owl meristema apical (Spanish, exact)|AM (exact)|頂端分裂組織 (Japanese, exact)|promeristem (broad)|primary meristem (related) PO_GIT:579 plant_anatomy owl:Class PO:0006210 biolink:NamedThing protoderm A portion of meristem tissue (PO:0009013) that is the outer layer of an apical meristem (PO:0020144), or the outer layer of a plant embryo proper (PO:0000001), and gives rise to a portion of epidermis (PO:0005679). tmpak2llvmy_mondo_relaxed.owl dermatogen cell (related)|portion of protoderm tissue (exact)|protodermis (Spanish, exact)|前表皮、原表皮 (Japanese, exact) PO_GIT:125 A protoderm may or may not arise from independent initial cells (PO:0004011). Some researchers also refer to it as an epidermis in a meristematic state. plant_anatomy owl:Class MONDO:0005120 biolink:NamedThing Drosophila C virus infection A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses. tmpak2llvmy_mondo_relaxed.owl Drosophila C virus disease or disorder|Drosophila C virus infectious disease|Drosophila C virus caused disease or disorder EFO:0000779|PMID:25253354 owl:Class NCBITaxon:64279 biolink:NamedThing Drosophila C virus tmpak2llvmy_mondo_relaxed.owl DCV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005051 biolink:NamedThing mediastinum testis The mediastinum testis is a network of fibrous connective tissue that extends from the upper to near the lower extremity of the testis, and is wider above than below. From its front and sides numerous imperfect septa (trabeculæ) are given off, which radiate toward the surface of the organ, and are attached to the tunica albuginea. They divide the interior of the organ into a number of incomplete spaces, called lobules. These are somewhat cone-shaped, being broad at their bases at the surface of the gland, and becoming narrower as they converge to the mediastinum. The mediastinum supports the rete testis and blood vessels of the testis in their passage to and from the substance of the gland[WP] tmpak2llvmy_mondo_relaxed.owl testis mediastinum|body of highmore|hilum of testicle|mediastinum of testis owl:Class MONDO:0012608 biolink:NamedThing autosomal recessive lower motor neuron disease with childhood onset A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. tmpak2llvmy_mondo_relaxed.owl autosomal recessive distal spinal muscular atrophy type 4|DSMA4|spinal muscular atrophy, distal, autosomal recessive, 4|distal spinal muscular atrophy type 4|dSMA4|spinal muscular atrophy, distal, autosomal recessive, type 4 ICD10:G12.2|OMIM:611067|Orphanet:206580|DOID:0111213|UMLS:C1970211|MESH:C567023 owl:Class MONDO:0007309 biolink:NamedThing Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. tmpak2llvmy_mondo_relaxed.owl hereditary motor and sensory neuropathy 1A|Charcot-Marie-Tooth disease type 1A|Charcot Marie Tooth disease type 1A|Charcot-Marie-Tooth neuropathy, type 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|CMT1A|Charcot-Marie-Tooth neuropathy type 1A|CMT 1A|HMSN1A|microduplication 17p12|Charcot-Marie-Tooth disease, demyelinating, type 1A|HMSN 1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A Orphanet:101081|NCIT:C75468|DOID:0110148|OMIM:118220|ICD10:G60.0|GARD:0001245|UMLS:C0270911 https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a owl:Class HGNC:9118 biolink:NamedThing PMP22 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000084 biolink:NamedThing ureteric bud An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP] tmpak2llvmy_mondo_relaxed.owl diverticulum|metanephric diverticulum|metanephric bud|ureteric diverticulum|ureteric ampulla|gemma ureterica|diverticulum metanephricum owl:Class CL:0000040 biolink:NamedThing monoblast A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. tmpak2llvmy_mondo_relaxed.owl monocyte stem cell|CFU-M|colony forming unit macrophage|colony forming unit monocyte CALOHA:TS-1195|FMA:83553 Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class GO:0005730 biolink:NamedThing nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009663 biolink:NamedThing telencephalic nucleus A nucleus of brain that is part of a telencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014228 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 8 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, 8|AGBL1 Fuchs' endothelial dystrophy|FECD8|corneal dystrophy, Fuchs endothelial, type 8|Fuchs' endothelial dystrophy caused by mutation in AGBL1 OMIM:615523|UMLS:C3809798 owl:Class HGNC:26504 biolink:NamedThing AGBL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020682 biolink:NamedThing Ehlers-Danlos syndrome, progeroid type 1 tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, spondylodysplastic type, 1|galactosyltransferase 1 deficiency|dermatan sulfate proteoglycan|Pds, defective biosynthesis of|EDSSPD1|Ehlers-Danlos syndrome, progeroid type, 1|Ehlers-Danlos syndrome, progeroid type 1|Ehlers-Danlos syndrome with Short stature and Limb anomalies|xylosylprotein 4-Beta-galactosyltransferase deficiency|proteodermatan sulfate, defective biosynthesis of|Xgpt deficiency|Ehlers-Danlos syndrome, progeroid type, 1, formerly OMIM:130070 owl:Class HGNC:930 biolink:NamedThing B4GALT7 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000111 biolink:NamedThing 17-year-old human stage Adolescent stage that refers to an adolescent who is over 17 and under 18 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100061 biolink:NamedThing PRPS1 deficiency disorder A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss. tmpak2llvmy_mondo_relaxed.owl PRPS1 deficiency disorder|PRPS1-related CMTX5/Arts syndrome/XLNSHL 2018-10-10 21:18:33+00:00 Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. owl:Class UBERON:0004375 biolink:NamedThing bone of free limb or fin A bone that is part of an appendage [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl appendage bone|bone of free segment of appendicular skeleton|bone of appendage owl:Class MONDO:0013699 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 4 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. tmpak2llvmy_mondo_relaxed.owl PMS2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in PMS2|colorectal cancer, hereditary nonpolyposis, type 4|HNPCC4 UMLS:C1838333|MESH:C563971|DOID:0070275|OMIM:614337 owl:Class HGNC:9122 biolink:NamedThing PMS2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0005009 biolink:NamedThing renal principal cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0001764 biolink:NamedThing ethmoidal sinus neoplasm A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl neoplasm of the ethmoidal sinus|ethmoid sinus tumor|ethmoid sinus neoplasm (disease)|neoplasm of the ethmoid sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|tumor of ethmoidal sinus|neoplasm of ethmoidal sinus|neoplasm of ethmoid sinus|ethmoidal sinus neoplasm|tumor of ethmoid sinus|tumor of the ethmoidal sinus|ethmoid sinus neoplasm UMLS:C0345668|NCIT:C4416|DOID:1364|SCTID:126677000 MONDO:0021215 owl:Class UBERON:0002453 biolink:NamedThing ethmoid sinus the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses tmpak2llvmy_mondo_relaxed.owl ethmoidal bone sinus|ethmoidal air cell|ethmoidal sinus|cellulae ethmoidales owl:Class UBERON:0010546 biolink:NamedThing metapodial skeleton Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. tmpak2llvmy_mondo_relaxed.owl metapodial skeleton|skeletal parts of metapodium|skeleton of metapodium|metapodium|metapodium skeleton|metacarpal/metatarsal skeleton owl:Class UBERON:0011111 biolink:NamedThing humeroradial joint A hinge joint between the head of the radius and the capitulum of the humerus. tmpak2llvmy_mondo_relaxed.owl humero-radial joint|articulatio humeroradialis owl:Class CL:1000549 biolink:NamedThing kidney cortex collecting duct epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001063 cell owl:Class MONDO:0021824 biolink:NamedThing adult progressive spinal muscular atrophy, Aran Duchenne type A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others. tmpak2llvmy_mondo_relaxed.owl adult progressive spinal muscular atrophy Aran Duchenne type|adult SMA Aran Duchenne type|Aran Duchenne spinal muscular atrophy GARD:0009132 Editor note: consider merging with parent https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type owl:Class UBERON:0034876 biolink:NamedThing future neurohypophysis the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland tmpak2llvmy_mondo_relaxed.owl neurohypophyseal bud|neurohypohysial region owl:Class MONDO:0033364 biolink:NamedThing developmental and epileptic encephalopathy, 55 tmpak2llvmy_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 14|infantile epileptic encephalopathy 55|DEE55|EIEE55|epileptic encephalopathy, early infantile, 55 DOID:0080283|OMIM:617599 owl:Class HGNC:3046 biolink:NamedThing PIGP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013963 biolink:NamedThing autosomal recessive nonsyndromic deafness 93 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 93|deafness, autosomal recessive type 93|autosomal recessive nonsyndromic deafness type 93|autosomal recessive deafness 93|DFNB93|autosomal recessive nonsyndromic deafness 93|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|CABP2 autosomal recessive nonsyndromic deafness OMIM:614899|DOID:0110537|ICD10:H90.3 owl:Class HGNC:1385 biolink:NamedThing CABP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006905 biolink:NamedThing mandibular process mesenchyme Mesenchyme that is part of a mandibular prominence. tmpak2llvmy_mondo_relaxed.owl mesenchyme of mandibular process|mesenchyme of mandibular prominence owl:Class CHEBI:16874 biolink:NamedThing psychosine A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position. tmpak2llvmy_mondo_relaxed.owl (2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|beta-psychosine|1-O-beta-D-galactosylsphingosine|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|1-beta-D-galactosphingosine|Psychosine|sphingosine galactoside|1-beta-D-galactosylsphingosine|Galactosylsphingosine|O-galactosylsphingosine|O-Galactosylsphingosine|1-O-beta-D-galactopyranosylsphingosine owl:Class UBERON:0009115 biolink:NamedThing thoracic thymus A mature thymus that is entirely part of thoracic region. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002110 biolink:NamedThing Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. tmpak2llvmy_mondo_relaxed.owl Permanent enlargement of the airways of the lungs SNOMEDCT_US:12295008|MSH:D001987|UMLS:C0006267 human_phenotype owl:Class UBERON:0002425 biolink:NamedThing visceral serous pericardium Visceral serous membrane which is continuous with the parietal serous pericardium and is attached to the myocardium[FMA]. tmpak2llvmy_mondo_relaxed.owl visceral layer of serous pericardium|lamina visceralis pericardii serosi|serous visceral pericardium|epicardium|visceral pericardium|pericardium visceral mesothelium|visceral lamina of serous pericardium owl:Class UBERON:0001954 biolink:NamedThing Ammon's horn A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. tmpak2llvmy_mondo_relaxed.owl cornu ammonis|hippocampus proper|Ammon horn fields|Ammons horn|Ammon's horn|hippocampus major|ammon horn|hippocampus|ammon gyrus|hippocampus proprius owl:Class MONDO:0017794 biolink:NamedThing Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. tmpak2llvmy_mondo_relaxed.owl dup(X)(q12-q13.3) UMLS:CN203749|Orphanet:314389|ICD10:Q99.8|SCTID:764711007 owl:Class UBERON:0006877 biolink:NamedThing vasculature of liver A vasculature that is part of a liver. tmpak2llvmy_mondo_relaxed.owl liver vascular system|liver vascular element|hepatic vascular element|hepatic vasculature owl:Class HGNC:970 biolink:NamedThing BBS5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4221 biolink:NamedThing GDF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004466 biolink:NamedThing neuronitis tmpak2llvmy_mondo_relaxed.owl neuroinflammation DOID:8117|UMLS:C0027881|NCIT:C34847 Editor note: check this owl:Class MONDO:0020496 biolink:NamedThing familial porencephaly An instance of porencephaly that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary porencephaly|familial porencephalic white matter disease ICD10:Q04.6|OMIMPS:175780|GARD:0002258|Orphanet:99810 https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly owl:Class GO:0050868 biolink:NamedThing negative regulation of T cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. tmpak2llvmy_mondo_relaxed.owl negative regulation of T lymphocyte activation|inhibition of T cell activation|downregulation of T cell activation|down-regulation of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T-cell activation|down regulation of T cell activation owl:Class GO:0042110 biolink:NamedThing T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpak2llvmy_mondo_relaxed.owl T-cell activation|T lymphocyte activation|T-lymphocyte activation owl:Class UBERON:0005024 biolink:NamedThing mucosa of soft palate A mucosa that is part of a soft palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of soft palate|soft palate organ mucosa|soft palate mucous membrane|soft palate mucosa|organ mucosa of soft palate|soft palate mucosa of organ|mucosa of organ of soft palate owl:Class MONDO:0002017 biolink:NamedThing olivopontocerebellar atrophy A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. tmpak2llvmy_mondo_relaxed.owl Dejerine-Thomas syndrome|OPCA|WADIA-swami syndrome|Thomas' syndrome DOID:14784|UMLS:C0028968|ICD9:333.0|ICD10:G23.8|GARD:0007250|NCIT:C84947|MESH:D009849|SCTID:67761004 owl:Class MONDO:0003617 biolink:NamedThing chronic salpingitis Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. tmpak2llvmy_mondo_relaxed.owl salpingitis, chronic ICD10:N70.11|SCTID:55551005|UMLS:C0269041|DOID:5731|NCIT:C40118 owl:Class ENVO:01001620 biolink:NamedThing mass of ice and snow A object which is composed primarily of water-based snow and ice. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001619 biolink:NamedThing snow and ice accumulation process A material accumulation process during which a accumulation of snow and ice forms or increases in mass. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010480 biolink:NamedThing anemia, nonspherocytic hemolytic, due to G6PD deficiency tmpak2llvmy_mondo_relaxed.owl anemia, nonspherocytic hemolytic, due to G6PD deficiency OMIM:300908|UMLS:C2720289|MESH:C567533 owl:Class HGNC:4057 biolink:NamedThing G6PD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010531 biolink:NamedThing metanephros induced blastemal cells . tmpak2llvmy_mondo_relaxed.owl nephrogenic interstitium of nephrogenic zone|induced blastemal cells|peripheral blastema|nephrogenic interstitium|cap mesenchyme of metanephros of urinary system owl:Class GO:1904315 biolink:NamedThing transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpak2llvmy_mondo_relaxed.owl ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential owl:Class MONDO:0010541 biolink:NamedThing X-linked calvarial hyperostosis tmpak2llvmy_mondo_relaxed.owl calvarial hyperostosis|isolated hyperostosis of the calvarium Orphanet:391327|GARD:0001058|ICD10:M85.2|MESH:C537963|OMIM:302030 owl:Class CL:0002222 biolink:NamedThing vertebrate lens cell A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye. tmpak2llvmy_mondo_relaxed.owl FMA:70950 tmeehan 2010-09-07T10:38:03Z cell owl:Class MONDO:0001532 biolink:NamedThing capillariasis A infectious disease involving the Capillaria. tmpak2llvmy_mondo_relaxed.owl Capillaria infection|infections, Capillaria DOID:12474|ICD9:127.5|SCTID:52979002|UMLS:C0006897|ICD10:B81.1 owl:Class UBERON:0014887 biolink:NamedThing distal epiphysis of distal phalanx of digit A distal epiphysis that is part of a distal phalanx. tmpak2llvmy_mondo_relaxed.owl distal end of distal phalanx of digit|head of distal phalanx of digit of autopod|head of distal phalanx of digit|head of distal phalanx owl:Class GO:0060156 biolink:NamedThing milk ejection reflex A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness. tmpak2llvmy_mondo_relaxed.owl milk ejection owl:Class GO:1903941 biolink:NamedThing negative regulation of respiratory gaseous exchange Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. tmpak2llvmy_mondo_relaxed.owl inhibition of respiratory gaseous exchange|downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange owl:Class MONDO:0013594 biolink:NamedThing spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 36|spinocerebellar ataxia type 36|Asidan|SCA36 NCIT:C148316|OMIM:614153|Orphanet:276198|GARD:0012367|UMLS:C3472711|DOID:0050983|SCTID:711158005|ICD10:G11.8 owl:Class HGNC:15911 biolink:NamedThing NOP56 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004219 biolink:NamedThing urethra smooth muscle layer A portion of smooth muscle tissue that is part of a urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tunica muscularis urethrae|muscular coat of urethra|muscular layer of urethra|smooth muscle of urethra|urethral smooth muscle|smooth muscle tissue of urethra|urethra smooth muscle tissue|muscle layer of urethra owl:Class CL:0000000 biolink:NamedThing cell A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. tmpak2llvmy_mondo_relaxed.owl XAO:0003012|CALOHA:TS-2035|FMA:68646|WBbt:0004017|VHOG:0001533|GO:0005623|KUPO:0000002 The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). cell owl:Class MONDO:0013373 biolink:NamedThing dilated cardiomyopathy 1V Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1V|PSEN2 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|CMD1V|cardiomyopathy, dilated, 1V|dilated cardiomyopathy type 1V OMIM:613697|UMLS:C3150958|ICD10:I42.0|DOID:0110427|MESH:C566856 owl:Class GO:0061448 biolink:NamedThing connective tissue development The progression of a connective tissue over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000123 biolink:NamedThing metanephric nephron tubule epithelial cell tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034878 biolink:NamedThing prechordal mesoderm the area of axial mesoderm that develops into the prechordal plate tmpak2llvmy_mondo_relaxed.owl prechordal mesenchyme owl:Class UBERON:0003063 biolink:NamedThing prechordal plate A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue tmpak2llvmy_mondo_relaxed.owl head mesenchyme|head mesoderm owl:Class CHEBI:16914 biolink:NamedThing salicylic acid A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves. tmpak2llvmy_mondo_relaxed.owl 2-hydroxybenzoic acid|2-carboxyphenol|Salicylic acid|2-HYDROXYBENZOIC ACID|o-hydroxybenzoic acid|o-carboxyphenol|o-Hydroxybenzoic acid owl:Class CHEBI:37848 biolink:NamedThing plant hormone A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. tmpak2llvmy_mondo_relaxed.owl plant growth hormone|phytohormones|phytohormone|plant hormones|plant growth factors|plant growth hormones|plant growth factor owl:Class UBERON:0000316 biolink:NamedThing cervical mucus A substance produced by the cervix and endocervical glands[BTO]. Thick acidic mucus that blocks the cervical os after mestruation[WP]. This 'infertile' mucus blocks spermatozoa from entering the uterus. tmpak2llvmy_mondo_relaxed.owl cervix mucus owl:Class GO:0030225 biolink:NamedThing macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. tmpak2llvmy_mondo_relaxed.owl macrophage cell differentiation owl:Class OBO:CHR_9606-chr4q biolink:NamedThing chr4q (Human) tmpak2llvmy_mondo_relaxed.owl 190214555 50000000 hg38 owl:Class GO:0051352 biolink:NamedThing negative regulation of ligase activity Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpak2llvmy_mondo_relaxed.owl downregulation of ligase activity|ligase inhibitor|down-regulation of ligase activity|down regulation of ligase activity|inhibition of ligase activity owl:Class GO:0048137 biolink:NamedThing spermatocyte division The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids. tmpak2llvmy_mondo_relaxed.owl spermatocyte cell division owl:Class MONDO:0016906 biolink:NamedThing partial deletion of the long arm of chromosome 7 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl del(7q)|7q monosomy|partial monosomy 7q|partial deletion of the long arm of chromosome type 7|deletion 7q|loss of chromosome 7q|7q deletion|partial monosomy of the long arm of chromosome 7|partial deletion of chromosome 7q|partial monosomy of chromosome 7q|monosomy 7q Orphanet:262056|GARD:0003765|NCIT:C36408|ICD10:Q93.5 owl:Class OBO:CHR_9606-chr7q biolink:NamedThing chr7q (Human) tmpak2llvmy_mondo_relaxed.owl 159345973 60100000 hg38 owl:Class UBERON:8400024 biolink:NamedThing subcapsular region of liver Region of liver parenchyma immediately below the capsule. This region is frequently specified in pathology diagnoses. tmpak2llvmy_mondo_relaxed.owl subcapsular tissue of liver|liver subcapsular region|liver subcapsular tissue owl:Class UBERON:0001238 biolink:NamedThing lamina propria of small intestine Lamina propria that is part_of the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestine lamina propria mucosae|small bowel lamina propria mucosae|small bowel lamina propria mucosa|lamina propria mucosa of small bowel|lamina propria of small bowel|lamina propria mucosa of small intestine|lamina propria mucosae of small intestine|lamina propria mucosae of small bowel|lamina propria of mucosa of small intestine|small bowel lamina propria|small intestine lamina propria|small intestine lamina propria mucosa owl:Class MONDO:0002227 biolink:NamedThing ovarian lymphoma A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. tmpak2llvmy_mondo_relaxed.owl lymphoma of ovary|ovary lymphoma|primary ovarian lymphoma|ovarian lymphoma DOID:2150|UMLS:C1518720|NCIT:C40021 owl:Class MONDO:0005914 biolink:NamedThing Picornaviridae infectious disease Virus diseases caused by the picornaviridae. tmpak2llvmy_mondo_relaxed.owl Picornaviridae infection|infections, Picornaviridae UMLS:C0031887|EFO:0007438|MESH:D010850 owl:Class GO:0042701 biolink:NamedThing progesterone secretion The regulated release of progesterone, a steroid hormone, by the corpus luteum of the ovary and by the placenta. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014454 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 2 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpak2llvmy_mondo_relaxed.owl FAT4 Hennekam syndrome|HKLLS2|Hennekam syndrome caused by mutation in FAT4|Hennekam lymphangiectasia-lymphedema syndrome 2|Hennekam lymphangiectasia-lymphedema syndrome type 2 OMIM:616006|UMLS:C4014939 owl:Class HP:0000618 biolink:NamedThing Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. tmpak2llvmy_mondo_relaxed.owl Blindness|Legal blindness|Total vision loss SNOMEDCT_US:65956007|MSH:D001766|Fyler:4866|UMLS:C0456909|UMLS:C0271215 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. HP:0007839 human_phenotype owl:Class UBERON:0003650 biolink:NamedThing metatarsal bone of digit 1 A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 1. tmpak2llvmy_mondo_relaxed.owl metatarsal I|foot digit 1 metatarsal bone|metatarsal bone of digit I|metatarsal bone of foot digit 1|toe 1 metatarsus|metatarsal 1|toe 1 metatarsal|metatarsal bone of hallux|first metatarsal bone|metatarsal bone digit 1|hindlimb digit 1 metatarsus|hallux metatarsal bone owl:Class UBERON:0004332 biolink:NamedThing proximal phalanx of pedal digit 1 A proximal phalanx that is part of a pedal digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal phalanx of the 1st toe|proximal phalanx of foot digit 1|proximal phalanx of big toe|proximal phalanx of pedal digit I|pedal phalanx I-1|foot digit 1 proximal phalanx|predal digit 1 proximal phalanx|proximal phalanx of hallux|proximal phalanx of great toe|hallux proximal phalanx owl:Class MONDO:0100105 biolink:NamedThing brain small vessel disease 3 An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. tmpak2llvmy_mondo_relaxed.owl BSVD3 OMIM:618360 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:26182 biolink:NamedThing COLGALT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003328 biolink:NamedThing mesenchyme of footplate Mesenchyme that is part of a footplate. tmpak2llvmy_mondo_relaxed.owl foot plate mesenchyme owl:Class MONDO:0007181 biolink:NamedThing axial osteomalacia tmpak2llvmy_mondo_relaxed.owl axial osteomalacia|atypical osteomalacia involving the axial skeleton UMLS:C1862372|DOID:0080039|GARD:0008431|MESH:C537791|OMIM:109130 https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia owl:Class MONDO:0013673 biolink:NamedThing Wolfram-like syndrome Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. tmpak2llvmy_mondo_relaxed.owl WFSL|Wolfram-like syndrome|Wolfram-like syndrome, autosomal dominant|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation EFO:0009063|OMIM:614296|UMLS:C3280358|DOID:0080584|Orphanet:411590|MESH:C565631|SCTID:734022008|UMLS:C4518338|ICD10:E13.8 owl:Class UBERON:0010243 biolink:NamedThing merocrine gland An exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006887 biolink:NamedThing exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. tmpak2llvmy_mondo_relaxed.owl nonselective vesicle exocytosis|vesicle exocytosis owl:Class MONDO:0011101 biolink:NamedThing peroxisome biogenesis disorder 1B tmpak2llvmy_mondo_relaxed.owl adrenoleukodystrophy, autosomal neonatal|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder type 1B|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|PBD1B|peroxisome biogenesis disorder (NALD/Ird)|infantile phytanic acid storage disease|Refsum disease, infantile OMIM:601539|UMLS:CN168921 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0000328 biolink:NamedThing hyperphosphatemia Abnormally high level of phosphate in the blood. tmpak2llvmy_mondo_relaxed.owl hyperphosphatemia|hyperphosphatemia (disease) hyperphosphatemia (disease) MESH:D054559|SCTID:20165001|HP:0002905|DOID:0050459|UMLS:C0085681 owl:Class HP:0002905 biolink:NamedThing Hyperphosphatemia An abnormally increased phosphate concentration in the blood. tmpak2llvmy_mondo_relaxed.owl High blood phosphate levels MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0553706|UMLS:C0085681 human_phenotype owl:Class MONDO:0012687 biolink:NamedThing familial cavitary optic disc anomaly tmpak2llvmy_mondo_relaxed.owl cavitary optic DISC anomalies|CODA|familial CODA MESH:C566924|Orphanet:464760|OMIM:611543|UMLS:C1969063 owl:Class HGNC:7165 biolink:NamedThing MMP19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002233 biolink:NamedThing enamel caries A dental caries that involves the enamel. tmpak2llvmy_mondo_relaxed.owl dental caries of enamel|dental caries limited to enamel|primary dental caries|simple dental cavity|enamel dental caries DOID:217|SCTID:80353004|UMLS:C0266853|ICD9:521.01 owl:Class GO:0045992 biolink:NamedThing negative regulation of embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. tmpak2llvmy_mondo_relaxed.owl downregulation of embryonic development|inhibition of embryonic development|down regulation of embryonic development|down-regulation of embryonic development owl:Class GO:0009790 biolink:NamedThing embryo development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpak2llvmy_mondo_relaxed.owl embryogenesis and morphogenesis|embryogenesis|embryonal development owl:Class MONDO:0013200 biolink:NamedThing hypertrophic cardiomyopathy 15 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 15|VCL hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in VCL|hypertrophic cardiomyopathy type 15|CMH15|cardiomyopathy familial hypertrophic 15|cardiomyopathy, familial hypertrophic, type 15 OMIM:613255|MESH:C567681|DOID:0110321|UMLS:C2750459 owl:Class HGNC:12665 biolink:NamedThing VCL tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3330 biolink:NamedThing EML1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016880 biolink:NamedThing future nervous system Primordium that develops into the nervous system tmpak2llvmy_mondo_relaxed.owl presumptive nervous system owl:Class CHEBI:39745 biolink:NamedThing dihydrogenphosphate A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. tmpak2llvmy_mondo_relaxed.owl dihydrogentetraoxophosphate(1-)|[PO2(OH)2](-)|DIHYDROGENPHOSPHATE ION|dihydrogentetraoxophosphate(V)|dihydrogenphosphate|dihydrogen(tetraoxidophosphate)(1-)|H2PO4(-)|dihydroxidodioxidophosphate(1-) owl:Class UBERON:0005604 biolink:NamedThing extrahepatic part of hepatic duct tmpak2llvmy_mondo_relaxed.owl hepatic duct extrahepatic part|extrahepatic part of the hepatic duct owl:Class NCBITaxon:1980416 biolink:NamedThing Peribunyaviridae tmpak2llvmy_mondo_relaxed.owl Bunyaviridae GC_ID:1 NCBITaxon:11571 ncbi_taxonomy owl:Class MONDO:0021364 biolink:NamedThing neoplasm of oropharynx A neoplasm (disease) that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharyngeal neoplasm|oropharyngeal neoplasms|oropharyngeal tumor|tumor of oropharynx|oropharynx neoplasm (disease)|oropharynx neoplasm|neoplasm of the oropharynx|tumor of the oropharynx|neoplasm of oropharynx|oropharynx tumor NCIT:C3291|UMLS:C0029295|SCTID:126809003 owl:Class MONDO:0010945 biolink:NamedThing retinitis pigmentosa 17 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. tmpak2llvmy_mondo_relaxed.owl CA4 retinitis pigmentosa|retinitis pigmentosa type 17|retinitis pigmentosa 17|RP 17|RP17|retinitis pigmentosa caused by mutation in CA4 OMIM:600852|ICD10:H35.5|GARD:0010387|UMLS:C1833245|DOID:0110404|MESH:C563437 https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17 owl:Class HGNC:1375 biolink:NamedThing CA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020584 biolink:NamedThing anemia due to enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme. tmpak2llvmy_mondo_relaxed.owl anemia due to enzyme disorder UMLS:C0494226|NCIT:C35472 owl:Class MONDO:0003540 biolink:NamedThing acute T cell leukemia tmpak2llvmy_mondo_relaxed.owl precursor T lymphoblastic leukemia ICD10:C91.50|CSP:2004-1600|DOID:5603|ICD10:C91.5|CSP:2004-1803|SCTID:277575008 owl:Class HGNC:8952 biolink:NamedThing SERPINB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013842 biolink:NamedThing cortisone reductase deficiency 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. tmpak2llvmy_mondo_relaxed.owl CORTRD2|11-beta-hydroxysteroid dehydrogenase type 1 deficiency|HSD11B1 cortisone reductase deficiency|cortisone reductase deficiency caused by mutation in HSD11B1|cortisone reductase deficiency 2|cortisone reductase deficiency type 2 NCIT:C131084|UMLS:C3553382|OMIM:614662|DOID:0090140 owl:Class HGNC:5208 biolink:NamedThing HSD11B1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:37806 biolink:NamedThing penicillanic acid A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration. tmpak2llvmy_mondo_relaxed.owl 2,2-dimethylpenam-3alpha-carboxylic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|penicillanic acid owl:Class MONDO:0013554 biolink:NamedThing psoriasis 13, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpak2llvmy_mondo_relaxed.owl PSORS13|psoriasis 13, susceptibility to|TRAF3IP2 psoriasis|psoriasis caused by mutation in TRAF3IP2|susceptibility to psoriasis 13 DOID:0111287|OMIM:614070 owl:Class ECTO:9001655 biolink:NamedThing exposure to cofactor An exposure to cofactor. tmpak2llvmy_mondo_relaxed.owl exposure to cofactor owl:Class CHEBI:77974 biolink:NamedThing food packaging gas A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. tmpak2llvmy_mondo_relaxed.owl food packaging gases owl:Class MONDO:0002203 biolink:NamedThing constipation disorder Irregular and infrequent or difficult evacuation of the bowels. tmpak2llvmy_mondo_relaxed.owl constipation|colonic inertia|Dyschezia HP:0002019|MESH:D003248|DOID:2089|SCTID:14760008|NCIT:C37930|ICD9:564.0|ICD9:564.00|ICD10:K59.00|ICD10:K59.0 owl:Class HP:0001297 biolink:NamedThing Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. tmpak2llvmy_mondo_relaxed.owl Cerebrovascular accident|Cerebral vascular events|Stroke|Cerebrovascular accidents UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521 HP:0002452 human_phenotype owl:Class UBERON:0002326 biolink:NamedThing lamina propria of urethra A lamina propria that is part of a urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl urethra lamina propria mucosa|lamina propria mucosae of urethra|urethral lamina propria|urethra lamina propria|lamina propria mucosa of urethra|urethra lamina propria mucosae owl:Class UBERON:0018674 biolink:NamedThing heart vasculature An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. tmpak2llvmy_mondo_relaxed.owl cardiac vasculature owl:Class GO:0040016 biolink:NamedThing embryonic cleavage The first few specialized divisions of an activated animal egg. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024548 biolink:NamedThing peeling skin syndrome 1 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. tmpak2llvmy_mondo_relaxed.owl skin peeling, familial continuous generalized|PSS|deciduous skin|inflammatory peeling skin syndrome|keratolysis exfoliativa congenita|generalized deciduous skin type B|PSS type B|PSS1|CDSN peeling skin syndrome|generalized peeling skin syndrome type B|peeling skin syndrome 1|peeling skin syndrome caused by mutation in CDSN|peeling skin syndrome type B ICD10:Q80.8|OMIM:270300|UMLS:C3891449|Orphanet:263553|UMLS:CN202306 owl:Class HGNC:1802 biolink:NamedThing CDSN tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007271 biolink:NamedThing synaptic transmission, cholinergic The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpak2llvmy_mondo_relaxed.owl cholinergic synaptic transmission owl:Class UBERON:0003484 biolink:NamedThing eye sebaceous gland A sebaceous gland that is part of a camera-type eye. Example: a tarsal gland. tmpak2llvmy_mondo_relaxed.owl sebaceous gland of camera-type eye|vertebrate eye sebaceous gland|camera-type eye sebaceous gland|sebaceous gland of vertebrate eye owl:Class MONDO:0005654 biolink:NamedThing ascariasis An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. tmpak2llvmy_mondo_relaxed.owl Ascaris lumbricoides caused disease or disorder|Ascaris lumbricoides infection|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides infectious disease|ascariasis - roundworm ICD9:127.0|NCIT:C128392|ICD10:B77|ICD10:B77.9|EFO:0007154|MESH:D001196|UMLS:C0003950|DOID:456|SCTID:2435008|CSP:1248-7284 owl:Class NCBITaxon:6252 biolink:NamedThing Ascaris lumbricoides tmpak2llvmy_mondo_relaxed.owl common roundworm GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020713 biolink:NamedThing pulmonary venoocclusive disease 1 tmpak2llvmy_mondo_relaxed.owl PVOD1|pulmonary venoocclusive disease 1, autosomal dominant OMIM:265450 owl:Class HGNC:1078 biolink:NamedThing BMPR2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:785 biolink:NamedThing Rickettsia typhi tmpak2llvmy_mondo_relaxed.owl Dermacentroxenus typhi|Rickettsia mooseri GC_ID:11 ncbi_taxonomy owl:Class UBERON:0012463 biolink:NamedThing cloacal lumen A anatomical space that is enclosed by a cloaca. tmpak2llvmy_mondo_relaxed.owl cloaca lumen|cloacal chamber owl:Class MONDO:0033643 biolink:NamedThing inflammatory bowel disease 30 tmpak2llvmy_mondo_relaxed.owl IBD30 OMIM:619079 owl:Class HGNC:17057 biolink:NamedThing CARD8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007420 biolink:NamedThing autosomal dominant deafness - onychodystrophy syndrome Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. tmpak2llvmy_mondo_relaxed.owl Ddod syndrome|DDOD syndrome|DDOD|deafness, congenital, and onychodystrophy, autosomal dominant|familial ectodermal dysplasia with sensori-neural deafness and other anomalies|deafness-onychodystrophy syndrome, autosomal dominant|autosomal dominant deafness-onychodystrophy syndrome|Robinson Miller Bensimon syndrome|deafness and onychodystrophy, dominant form|Robinson-Miller-Bensimon syndrome|deafness, congenital, with onychodystrophy, autosomal dominant GARD:0004732|ICD10:Q87.8|Orphanet:79499|UMLS:C2675730|OMIM:124480 https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome owl:Class MONDO:0002880 biolink:NamedThing ovarian adenosarcoma A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. tmpak2llvmy_mondo_relaxed.owl ovarian mullerian adenosarcoma|ovarian Müllerian adenosarcoma|adenosarcoma of ovary|ovarian adenosarcoma|ovarian mesodermal adenosarcoma|ovarian Mullerian adenosarcoma|ovary adenosarcoma DOID:4115|UMLS:C1335169|NCIT:C7317 owl:Class UBERON:0010312 biolink:NamedThing immature eye Developing anatomical structure that develops into the eyeball and associated structures. tmpak2llvmy_mondo_relaxed.owl future eye owl:Class MONDO:0014240 biolink:NamedThing periventricular nodular heterotopia 6 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. tmpak2llvmy_mondo_relaxed.owl periventricular nodular heterotopia caused by mutation in ERMARD|PVNH6|periventricular nodular heterotopia type 6|ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia 6 OMIM:615544|UMLS:C3809872 owl:Class HGNC:21056 biolink:NamedThing ERMARD tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:26605 biolink:NamedThing saponin A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species. tmpak2llvmy_mondo_relaxed.owl sapogenin glycosides|sapogenin glycoside|saponins owl:Class HGNC:4598 biolink:NamedThing GRM6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000471 biolink:NamedThing compound organ component Multi-tissue structure that is part of a compound organ. tmpak2llvmy_mondo_relaxed.owl compound organ components owl:Class UBERON:0003103 biolink:NamedThing compound organ Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. tmpak2llvmy_mondo_relaxed.owl organ owl:Class MONDO:0010641 biolink:NamedThing X-linked diffuse leiomyomatosis-Alport syndrome The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. tmpak2llvmy_mondo_relaxed.owl leiomyomatosis, esophageal and vulval, with nephropathy|Alport syndrome and diffuse leiomyomatosis|DL-ATS|chromosome Xq22.3 centromeric deletion syndrome|Xq22.3 microdeletion syndrome|Alport syndrome with diffuse leiomyomatosis|ATS-DL|leiomyomatosis, diffuse, with Alport syndrome|diffuse leiomyomatosis in Alport syndrome MESH:C537113|GARD:0002432|Orphanet:1018|ICD10:Q87.8|OMIM:308940 owl:Class OBO:CHR_9606-chrXq22.3 biolink:NamedThing chrXq22.3 (Human) tmpak2llvmy_mondo_relaxed.owl 109400000 104500000 hg38 owl:Class MONDO:0005142 biolink:NamedThing Pseudomonas aeruginosa CF5 infection A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. tmpak2llvmy_mondo_relaxed.owl EFO:0001077 owl:Class NCBITaxon:1402491 biolink:NamedThing Pseudomonas aeruginosa CF5 tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008730 biolink:NamedThing congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. tmpak2llvmy_mondo_relaxed.owl 17-Alpha-Hydroxylase deficiency|CAH due to 17-alpha-hydroxylase deficiency|17,20-lyase deficiency, isolated|congenital adrenal hyperplasia type 5|combined 17-hydroxylase/17,20-lyase deficiency|adrenal hyperplasia 5|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency SCTID:124220008|GARD:0001469|ICD9:277.6|ICD10:E25.0|Orphanet:90793|OMIM:202110 https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency owl:Class HGNC:2593 biolink:NamedThing CYP17A1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005712 biolink:NamedThing midgut duodenum mesentery A mesentery of duodenum that is part of a midgut. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q23 biolink:NamedThing chr2q23 (Human) tmpak2llvmy_mondo_relaxed.owl 154000000 147900000 hg38 owl:Class MONDO:0015646 biolink:NamedThing orgasm-induced seizures Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. tmpak2llvmy_mondo_relaxed.owl ICD10:G40.8|Orphanet:166421|UMLS:CN200056 owl:Class MONDO:0021183 biolink:NamedThing HTLV-2 infection tmpak2llvmy_mondo_relaxed.owl HTLV-II Infections|Human T-lymphotropic Virus 2 Infection|HTLV II INFECT|Human T lymphotropic Virus 2 Infection|Infections, HTLV-II|Human T-lymphotropic Virus 2 Infections|Infection, HTLV-II|Human T-lymphotropic virus 2 infection|Human T lymphotropic Virus 2 Infections|Infections, HTLV II|INFECT HTLV II|HTLV-2 infection|HTLV-II Infection|HTLV-II infection MESH:D015491|GARD:0009783|SCTID:425740005|EFO:1001349|UMLS:C0020102 owl:Class MONDO:0009394 biolink:NamedThing juvenile Paget disease Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl juvenile Pagets disease|familial osteoectasia|JPG|osteoectasia, familial|Paget disease juvenile type|PDB5|hyperphosphatasia, familial idiopathic|juvenile Paget's disease|JPD|hyperphosphatasemia, chronic congenital idiopathic|hereditary hyperphosphatasia|Paget disease of bone 5, juvenile-onset|hyperostosis corticalis deformans juvenilis|juvenile Paget disease|hyperostosid corticalis deformans juvenilis|familial hyperphosphatasia OMIM:239000|ICD10:M88.8|NCIT:C131861|ICD10:M88.9|GARD:0002831|Orphanet:2801|MESH:C537701|SCTID:9723006|ICD10:M88.0 https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease owl:Class HGNC:11909 biolink:NamedThing TNFRSF11B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005724 biolink:NamedThing roof plate spinal cord region A tissue that is part of a spinal cord and is part of a roof plate. tmpak2llvmy_mondo_relaxed.owl roofplate spinal cord|spinal cord roof|roof plate spinal cord owl:Class MONDO:0015178 biolink:NamedThing congenital intestinal transport defect tmpak2llvmy_mondo_relaxed.owl Orphanet:104003 owl:Class MONDO:0018234 biolink:NamedThing dysostosis A disorder of the development of bone in which ossification is affected. tmpak2llvmy_mondo_relaxed.owl dysostosis Orphanet:364559|ICD9:756.9|DOID:1934|MESH:D004413|UMLS:C0013393|SCTID:109420003|NCIT:C34560 owl:Class ECTO:9001711 biolink:NamedThing exposure to antiinfective agent An exposure to antiinfective agent. tmpak2llvmy_mondo_relaxed.owl exposure to antiinfective agent owl:Class CHEBI:35441 biolink:NamedThing antiinfective agent A substance used in the prophylaxis or therapy of infectious diseases. tmpak2llvmy_mondo_relaxed.owl antiinfective agents|anti-infective drugs|antiinfective drug|anti-infective agents owl:Class UBERON:0001090 biolink:NamedThing synovial fluid Joint fluid is a transudate of plasma that is actively secreted by synovial cells. tmpak2llvmy_mondo_relaxed.owl joint fluid owl:Class ENVO:01000801 biolink:NamedThing star An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q3 biolink:NamedThing chr9q3 (Human) tmpak2llvmy_mondo_relaxed.owl 138394717 99800000 hg38 owl:Class MONDO:0010122 biolink:NamedThing congenital thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpak2llvmy_mondo_relaxed.owl Microangiopathic hemolytic Anemia, congenital|TTP|Upshaw-Schulman syndrome|hereditary thrombotic thrombocytopenic purpura|congenital thrombotic thrombocytopenic purpura|Upshaw Factor, deficiency of|thrombotic thrombocytopenic purpura, familial|TTP, congenital|USS|congenital ADAMTS13 deficiency|thrombotic thrombocytopenic purpura, congenital|Microangiopathic hemolytic Anemia|thrombotic microangiopathy, familial|familial TTP|congenital TTP|congenital ADAMTS-13 deficiency|Schulman-Upshaw syndrome Orphanet:93583|NCIT:C131657|ICD10:M31.3|SCTID:373420004|OMIM:274150|GARD:0009430|ICD9:287.33 owl:Class HGNC:1366 biolink:NamedThing ADAMTS13 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036300 biolink:NamedThing tributary of central retinal vein tmpak2llvmy_mondo_relaxed.owl central retinal venous tributary owl:Class UBERON:0001673 biolink:NamedThing central retinal vein The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena centralis retinae|retinal vein owl:Class MONDO:0004719 biolink:NamedThing hard palate cancer A malignant neoplasm involving the hard palate. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the hard palate|hard palate cancer|malignant tumour of hard palate|malignant neoplasm of hard palate|hard palate|malignant tumor of the hard palate|malignant hard palate neoplasm|malignant tumor of hard palate|cancer of hard palate|malignant hard palate tumor NCIT:C3528|ICD9:145.2|UMLS:C0153375|DOID:9149|SCTID:363387004|ICD10:C05.0 owl:Class UBERON:0003216 biolink:NamedThing hard palate Anterior portion of the palate consisting of bone and mucous membranes[GO]. The hard palate is formed from bony processes of the maxilla, premaxilla and palatine[Kardong]. tmpak2llvmy_mondo_relaxed.owl hard palate|palatum durum owl:Class MONDO:0008788 biolink:NamedThing IRIDA syndrome IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. tmpak2llvmy_mondo_relaxed.owl pseudo-iron-deficiency Anemia|IRIDA syndrome|IRIDA|iron-handling disorder, hereditary|anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia GARD:0010957|MESH:C562385|OMIM:206200|Orphanet:209981|SCTID:722005000|ICD10:D50.8 owl:Class HGNC:16517 biolink:NamedThing TMPRSS6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034729 biolink:NamedThing sympathetic nerve tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000042 biolink:NamedThing forebrain neuroblast tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010996 biolink:NamedThing articular cartilage of joint A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. tmpak2llvmy_mondo_relaxed.owl joint-associated cartilage|cartilago articularis|articular cartilage|hyaline cartilage owl:Class GO:0002007 biolink:NamedThing detection of hypoxic conditions in blood by chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpak2llvmy_mondo_relaxed.owl detection of hypoxic conditions in blood by chemoreceptor signalling owl:Class MONDO:0006640 biolink:NamedThing adrenal gland hyperfunction Excess production of adrenal cortex hormones. tmpak2llvmy_mondo_relaxed.owl hyperadrenalism|hyperfunction, adrenocortical|hypercorticism|hypercortisolemia|adrenal gland hyperfunction|hypercortisolism|disorder of corticoadrenal overactivity|hyperadrenocorticism|adrenocortical hyperfunction|hyperfunction, adrenal gland GARD:0008252|UMLS:C0001622|MESH:D000308|EFO:1000797|ICD9:255.3|SCTID:275437005|HP:0003118|DOID:3947|UMLS:CN205287 https://github.com/monarch-initiative/mondo/issues/3376 owl:Class MONDO:0004125 biolink:NamedThing rectum leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of rectum|rectal leiomyoma|leiomyoma of the rectum|rectum leiomyoma UMLS:C1335682|NCIT:C5552|DOID:7160 owl:Class MONDO:0014390 biolink:NamedThing hypotrichosis 13 Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. tmpak2llvmy_mondo_relaxed.owl hypt13|KRT71 hypotrichosis|hypotrichosis type 13|hypotrichosis caused by mutation in KRT71|hypotrichosis 13|hypotrichosis with woolly hair|HYPT13 DOID:0110710|UMLS:C4014616|OMIM:615896 owl:Class HGNC:28927 biolink:NamedThing KRT71 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010039 biolink:NamedThing food storage organ An organ of the digestive tract that is capable of retaining and storing food tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004381 biolink:NamedThing skeleton of limb The collection of all skeletal elements in an individual limb. tmpak2llvmy_mondo_relaxed.owl free limb skeleton|set of bones of limb|limb skeleton owl:Class UBERON:0012469 biolink:NamedThing external anal region tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16q2 biolink:NamedThing chr16q2 (Human) tmpak2llvmy_mondo_relaxed.owl 90338345 57300000 hg38 owl:Class UBERON:0002124 biolink:NamedThing medulla of thymus Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. tmpak2llvmy_mondo_relaxed.owl thymus gland medulla|thymus medulla|medulla of thymus gland owl:Class MONDO:0014102 biolink:NamedThing hypogonadotropic hypogonadism 17 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in SPRY4|SPRY4 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 17 with or without anosmia|HH17 UMLS:C3808971|OMIM:615266|DOID:0090079|ICD10:E23.0 owl:Class HGNC:15533 biolink:NamedThing SPRY4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009082 biolink:NamedThing high myopia-sensorineural deafness syndrome High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. tmpak2llvmy_mondo_relaxed.owl DFNMYP|high myopia-sensorineural deafness syndrome|deafness and myopia syndrome|deafness and myopia Orphanet:363396|DOID:0111628|OMIM:221200|GARD:0012844|SCTID:720506002|ICD10:H90.5|UMLS:CN204687 owl:Class UBERON:0010384 biolink:NamedThing lumen of laryngopharynx A anatomical space that is enclosed by a hypopharynx. tmpak2llvmy_mondo_relaxed.owl laryngopharynx lumen owl:Class UBERON:0002018 biolink:NamedThing synovial membrane of synovial joint Soft tissue that lines the non-cartilaginous surfaces within joints with cavities (synovial joints). tmpak2llvmy_mondo_relaxed.owl synovial layer|synovial layer of articular capsule of synovial joint|membrana synovialis capsulae articularis|synovial membrane of articular capsule of synovial joint|synovial membrane|stratum synoviale (capsula articularis)|synovium|synovium of articular capsule of synovial joint|stratum synoviale|membrana synovialis (capsula articularis) owl:Class GO:0007049 biolink:NamedThing cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. tmpak2llvmy_mondo_relaxed.owl cell-division cycle owl:Class HP:0031694 biolink:NamedThing Severe adenovirus infection An unusually severe adenovirus infection. tmpak2llvmy_mondo_relaxed.owl 2017-12-17 22:36:24+00:00 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. peter human_phenotype owl:Class UBERON:0004711 biolink:NamedThing jugular vein The jugular veins are veins that bring deoxygenated blood from the head back to the heart via the superior vena cava. tmpak2llvmy_mondo_relaxed.owl vena jugularis|jugular owl:Class MONDO:0021512 biolink:NamedThing benign neoplasm of thymus A benign neoplasm that involves the thymus. tmpak2llvmy_mondo_relaxed.owl benign Thymus neoplasm|benign thymic tumor|thymus benign neoplasm|benign thymic neoplasm|benign neoplasm of the Thymus|benign tumor of Thymus|benign Thymus tumor|benign tumor of the Thymus ICD9:212.6|SCTID:92437008|NCIT:C4458|ICD10:D15.0|UMLS:C0345975 owl:Class MONDO:0009008 biolink:NamedThing heart defect - tongue hamartoma - polysyndactyly syndrome tmpak2llvmy_mondo_relaxed.owl heart defect - tongue hamartoma - polysyndactyly syndrome|Ostravik-Lindemann-Solberg syndrome|congenital heart defects, hamartomas of tongue, and polysyndactyly|heart defect, tongue hamartoma and polysyndactyly|CHDTHP|Orstavik Lindemann Solberg syndrome GARD:0004166|MESH:C535849|UMLS:C2931046|GARD:0002612|DOID:0111591|OMIM:217085|ICD10:Q87.8|Orphanet:1338 owl:Class HGNC:28027 biolink:NamedThing WDPCP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035295 biolink:NamedThing left ear The organ of hearing located on the left side of the head[ncit,modified]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:583 biolink:NamedThing APC tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q2 biolink:NamedThing chr3q2 (Human) tmpak2llvmy_mondo_relaxed.owl 198295559 122200000 hg38 owl:Class OBO:CHR_9606-chr3q biolink:NamedThing chr3q (Human) tmpak2llvmy_mondo_relaxed.owl 198295559 90900000 hg38 owl:Class CL:1000437 biolink:NamedThing epithelial cell of nasolacrimal duct An epithelial cell that is part of the nasolacrimal duct. tmpak2llvmy_mondo_relaxed.owl FMA:70561 cell owl:Class UBERON:0000307 biolink:NamedThing blastula Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpak2llvmy_mondo_relaxed.owl blastula embryo|blastosphere owl:Class UBERON:0013526 biolink:NamedThing otocyst lumen A anatomical cavity that is part of a ear vesicle. tmpak2llvmy_mondo_relaxed.owl lumen of otocyst owl:Class UBERON:0018140 biolink:NamedThing mammary lobe A cluster of mammary gland lobules. In humans this is a distinct lobe and located in the breast region. tmpak2llvmy_mondo_relaxed.owl lobus glandulae mammariae|lobe of breast|lobe of mammary gland|lobi glandulae mammariae|breast lobe owl:Class UBERON:0013455 biolink:NamedThing spheno-petrosal fissure The sphenopetrosal fissure (or sphenopetrosal suture) is the cranial suture between the sphenoid bone and the petrous portion of the temporal bone. It is in the middle cranial fossa. tmpak2llvmy_mondo_relaxed.owl fissura sphenopetrosa|sphenopetrosal fissure owl:Class UBERON:0016570 biolink:NamedThing lamina of gray matter of spinal cord tmpak2llvmy_mondo_relaxed.owl rexed lamina owl:Class MONDO:0020549 biolink:NamedThing invasive hydatidiform mole A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. tmpak2llvmy_mondo_relaxed.owl invasive hydatidiform Mole|invasive hydatidiform mole|invasive gestational trophoblastic neoplasm|IHM|chorioadenoma|invasive Mole|chorioadenoma destruens|chorioadenoma Destruens SCTID:416669000|ONCOTREE:IHM|ICD10:D39.2|MESH:D002820|UMLS:C0008493|ICDO:9100/1|NCIT:C6985|Orphanet:99925 owl:Class UBERON:0035165 biolink:NamedThing posterior surface of prostate The flattened aspect of the prostate with a slight furrow facing the rectum and anus. tmpak2llvmy_mondo_relaxed.owl facies posterior (prostatae)|posterior surface of prostate gland|facies posterior prostatae owl:Class UBERON:0001629 biolink:NamedThing carotid body A small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control. tmpak2llvmy_mondo_relaxed.owl glomus caroticum|carotid glomus owl:Class GO:0006878 biolink:NamedThing cellular copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl copper homeostasis owl:Class OBO:CHR_9606-chr5q14 biolink:NamedThing chr5q14 (Human) tmpak2llvmy_mondo_relaxed.owl 93000000 77600000 hg38 owl:Class OBO:CHR_9606-chr5q1 biolink:NamedThing chr5q1 (Human) tmpak2llvmy_mondo_relaxed.owl 98900000 48800000 hg38 owl:Class UBERON:0008816 biolink:NamedThing embryonic head A head that is part of a embryo. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045672 biolink:NamedThing positive regulation of osteoclast differentiation Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. tmpak2llvmy_mondo_relaxed.owl stimulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation|up-regulation of osteoclast differentiation|up regulation of osteoclast differentiation owl:Class GO:0030316 biolink:NamedThing osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpak2llvmy_mondo_relaxed.owl osteoclast cell differentiation owl:Class MONDO:0010359 biolink:NamedThing Dent disease type 2 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. tmpak2llvmy_mondo_relaxed.owl DENT disease 2|Dent disease caused by mutation in OCRL|Dent disease type 2|nephrolithiasis type 2|OCRL Dent disease UMLS:C4305529|OMIM:300555|UMLS:C1845167|ICD10:N25.8|Orphanet:93623|MESH:C564487|SCTID:717790004 owl:Class HGNC:8108 biolink:NamedThing OCRL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014224 biolink:NamedThing developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 38|developmental delay with ASD and gait instability|intellectual disability, autosomal recessive type 38|MRT38|mental retardation, autosomal recessive type 38|intellectual disability, autosomal recessive 38 UMLS:C3809753|Orphanet:329195|OMIM:615516 owl:Class HGNC:4868 biolink:NamedThing HERC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013216 biolink:NamedThing Diamond-Blackfan anemia 9 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. tmpak2llvmy_mondo_relaxed.owl DBA9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan anemia 9|Diamond-Blackfan Anemia type 9|Diamond-Blackfan anemia caused by mutation in RPS10 MESH:C567650|OMIM:613308|UMLS:C2750081 owl:Class HGNC:10383 biolink:NamedThing RPS10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014982 biolink:NamedThing myopia 25, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. tmpak2llvmy_mondo_relaxed.owl myopia 25, autosomal dominant|myopia 25, autosomal dominant; MYP25|P4HA2 myopia (disease)|myopia (disease) caused by mutation in P4HA2|MYP25 UMLS:C4310655|OMIM:617238 owl:Class HGNC:8547 biolink:NamedThing P4HA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001209 biolink:NamedThing common wart A wart caused by human papillomavirus. It can appear anywhere on the skin. tmpak2llvmy_mondo_relaxed.owl viral Warts due to papilloma virus|wart|verruca vulgaris|viral Warts|common wart|viral wart ICD10:B07|NCIT:C27087|ICD9:078.1|SCTID:57019003|MESH:D014860|UMLS:C0043037|DOID:11165|ICD9:078.19|ICD10:B07.8|ICD9:078.10 owl:Class NCBITaxon:173087 biolink:NamedThing Human papillomavirus types tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0097028 biolink:NamedThing dendritic cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011628 biolink:NamedThing early premaxilla tmpak2llvmy_mondo_relaxed.owl future premaxilla owl:Class CHEBI:37826 biolink:NamedThing sulfuric acid derivative tmpak2llvmy_mondo_relaxed.owl sulfuric acid derivatives|sulfuric acid derivative owl:Class GO:0061534 biolink:NamedThing gamma-aminobutyric acid secretion, neurotransmission The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009213 biolink:NamedThing pharyngeal membrane of 1st arch A pharyngeal membrane that separates the first pharyngeal cleft from the first pharyngeal pouch. tmpak2llvmy_mondo_relaxed.owl 1st branchial membrane|future tympanic membrane|tympanic membrane primordium|1st pharyngeal membrane owl:Class N0d27fb99c87240c2bbba9878371c2128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0001804 biolink:NamedThing capsule of lens the elastic, clear, membrane-like structure, that is outer most layer of the lens tmpak2llvmy_mondo_relaxed.owl capsula lentis|lens capsule owl:Class MONDO:0007472 biolink:NamedThing basal laminar drusen A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3. tmpak2llvmy_mondo_relaxed.owl drusen of Bruch membrane|early adult-onset grouped drusen|drusen, early adult-onset, grouped|drusen, cuticular|cuticular drusen|basal laminar drusen DOID:0060746|OMIM:126700|MESH:C563034|ICD10:H35.5|UMLS:C0730295 owl:Class HGNC:11411 biolink:NamedThing CDKL5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017628 biolink:NamedThing myospherulosis tmpak2llvmy_mondo_relaxed.owl spherulocytosis|subcutaneous spherulocystic disease SCTID:81139004|Orphanet:306553|ICD9:136.8|UMLS:C0027123 owl:Class UBERON:0000415 biolink:NamedThing artery wall An anatomical wall that is part of an artery [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl wall of artery|arterial wall owl:Class UBERON:0003849 biolink:NamedThing mesencephalic neural crest A neural crest that has_potential_to_developmentally_contribute_to a midbrain. tmpak2llvmy_mondo_relaxed.owl neural crest midbrain|mesencephalic neural crest owl:Class UBERON:0005855 biolink:NamedThing lumbar spinal cord ventral column A subdivision of spinal cord ventral column that is part of a lumbar spinal cord. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3551 biolink:NamedThing F9 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:16709 biolink:NamedThing pyridoxine A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpak2llvmy_mondo_relaxed.owl 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine|2-methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine|5-hydroxy-6-methyl-3,4-pyridinedimethanol|Pyridoxol|pyridoxina|pyridoxine|2-methyl-4,5-dimethylol-pyridin-3-ol|2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|pyridoxolum|2-methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine|3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|vitamin B6|pyridoxinum|3-hydroxy-4,5-dimethylol-alpha-picoline|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|3-hydroxy-2-picoline-4,5-dimethanol|4,5-bis(hydroxymethyl)-2-methyl-pyridin-3-ol|piridossina owl:Class MONDO:0010488 biolink:NamedThing intellectual disability, X-linked 100 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in KIF4A|MRX100|KIF4A non-syndromic X-linked intellectual disability|mental retardation, X-linked 100|intellectual disability, X-linked 100|mental retardation, X-linked type 100|intellectual disability, X-linked type 100 UMLS:C3890167|OMIM:300923 owl:Class HGNC:13339 biolink:NamedThing KIF4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004657 biolink:NamedThing disseminated chorioretinitis tmpak2llvmy_mondo_relaxed.owl DOID:8787|ICD9:363.1|UMLS:C0154879|ICD10:H30.10|SCTID:78769001|ICD9:363.10|ICD10:H30.1 owl:Class MONDO:0022202 biolink:NamedThing disseminated tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005410 biolink:NamedThing cartilaginous otic capsule A otic capsule endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl otic capsule cartilage element|auditory capsule owl:Class UBERON:0005049 biolink:NamedThing mucosa of infundibulum of uterine tube A mucosa that is part of a uterine tube infundibulum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of infundibulum of oviduct|mucosa of infundibulum of fallopian tube|uterine tube infundibulum organ mucosa|mucous membrane of uterine tube infundibulum|uterine tube infundibulum mucous membrane|mucosa of uterine tube infundibulum|mucosa of organ of uterine tube infundibulum|organ mucosa of uterine tube infundibulum|uterine tube infundibulum mucosa of organ|uterine tube infundibulum mucosa owl:Class UBERON:0003984 biolink:NamedThing uterine tube infundibulum The funnel-like expansion of the abdominal extremity of the uterine tube[MP] tmpak2llvmy_mondo_relaxed.owl infundibulum of oviduct|infundibulum of uterine tube|infundibulum tubae uterinae|infundibulum|infundibulum of fallopian tube owl:Class MONDO:0013595 biolink:NamedThing hyperbiliverdinemia Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. tmpak2llvmy_mondo_relaxed.owl green jaundice|hyperbiliverdinemia|HBLVD OMIM:614156|Orphanet:276405|ICD10:K76.8|UMLS:C3279964 owl:Class HGNC:1062 biolink:NamedThing BLVRA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011196 biolink:NamedThing amyotrophic lateral sclerosis type 5 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5, juvenile|amyotrophic lateral sclerosis 5|SPG11 amyotrophic lateral sclerosis|ALS5 MESH:C566576|OMIM:602099|GARD:0010503|DOID:0060197|UMLS:C1865864 https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5 owl:Class HGNC:11226 biolink:NamedThing SPG11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012595 biolink:NamedThing leprosy, susceptibility to, 4 Any leprosy in which the cause of the disease is a mutation in the LTA gene. tmpak2llvmy_mondo_relaxed.owl leprosy caused by mutation in LTA|LPRS4|LTA leprosy|leprosy, susceptibility to, type 4|leprosy, susceptibility to, 4|susceptibility to leprosy 4|leprosy, early-onset, susceptibility to OMIM:610988 owl:Class GO:0009895 biolink:NamedThing negative regulation of catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpak2llvmy_mondo_relaxed.owl down regulation of catabolic process|negative regulation of degradation|downregulation of catabolic process|negative regulation of catabolism|negative regulation of breakdown|down-regulation of catabolic process|inhibition of catabolic process owl:Class NCBITaxon:53258 biolink:NamedThing Variola minor virus tmpak2llvmy_mondo_relaxed.owl Variola virus subsp. minor GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011569 biolink:NamedThing Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|CMT2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot Marie Tooth disease type 2B1|LMNA Charcot-Marie-Tooth disease type 2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|Charcot-Marie-Tooth disease neuronal type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|CMT 2B1|autosomal recessive axonal CMT4C1|AR-CMT2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|Charcot-Marie-Tooth neuropathy, type 2B1|Charcot-Marie-Tooth neuropathy type 2B1 Orphanet:98856|SCTID:725048002|UMLS:C1854154|ICD10:G60.0|GARD:0008548|DOID:0110156|OMIM:605588|MESH:C537990 https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 owl:Class ECTO:7000012 biolink:NamedThing exposure to soil A exposure event involving the interaction of an exposure receptor to soil. tmpak2llvmy_mondo_relaxed.owl soil exposure owl:Class PATO:0002462 biolink:NamedThing collagenous A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001969 biolink:NamedThing blood plasma The liquid component of blood, in which erythrocytes are suspended. tmpak2llvmy_mondo_relaxed.owl portion of plasma|portion of blood plasma|blood plasm|plasma owl:Class MONDO:0002214 biolink:NamedThing brain germinoma A germinoma (disease) that involves the brain. tmpak2llvmy_mondo_relaxed.owl germinoma of brain|intracranial germinoma|germinoma of the brain|brain germinoma (disease) UMLS:C1332606|DOID:2127|NCIT:C6284 owl:Class MONDO:0013059 biolink:NamedThing Aicardi-Goutieres syndrome 5 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene. tmpak2llvmy_mondo_relaxed.owl Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|AGS5|SAMHD1 Aicardi-Goutieres syndrome|SAMHD1-related Aicardi-Goutieres syndrome MESH:C535608|NCIT:C168564|OMIM:612952|GARD:0010151 owl:Class MONDO:0008823 biolink:NamedThing arthrogryposis multiplex congenita 2, neurogenic type Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. tmpak2llvmy_mondo_relaxed.owl neurogenic arthrogryposis multiplex congenita|neurogenic type of AMC|arthrogryposis multiplex congenita, neurogenic type|AMC, neurogenic type|arthrogryposis multiplex congenita neurogenic type|AMC neurogenic type|AMCN MESH:C536614|GARD:0000790|SCTID:715316005|DOID:0090124|ICD10:Q74.3|OMIM:208100|Orphanet:1143|UMLS:C1859721 owl:Class HGNC:29205 biolink:NamedThing ERGIC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002372 biolink:NamedThing tonsil either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx tmpak2llvmy_mondo_relaxed.owl Mandel owl:Class UBERON:0001735 biolink:NamedThing tonsillar ring the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils tmpak2llvmy_mondo_relaxed.owl pharyngeal lymphoid ring|Waldeyer's ring|Waldeyer's tonsillar ring|oropharyngeal lymphoid tissue|anulus lymphoideus pharyngis|pharyngeal lymphatic ring owl:Class UBERON:0004211 biolink:NamedThing nephron epithelium The nephron epithelium is a tissue that covers the surface of a nephron tmpak2llvmy_mondo_relaxed.owl nephron epithelial tissue|epithelium of nephron|epithelial tissue of nephron owl:Class HGNC:12974 biolink:NamedThing RNF113A tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000123 biolink:NamedThing neuron associated cell (sensu Vertebrata) tmpak2llvmy_mondo_relaxed.owl cell owl:Class CHEBI:85234 biolink:NamedThing human blood serum metabolite Any metabolite (endogenous or exogenous) found in human blood serum samples. tmpak2llvmy_mondo_relaxed.owl human blood serum metabolites owl:Class HP:0001254 biolink:NamedThing Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. tmpak2llvmy_mondo_relaxed.owl Lethargy MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380 human_phenotype owl:Class GO:0009889 biolink:NamedThing regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpak2llvmy_mondo_relaxed.owl regulation of formation|regulation of anabolism|regulation of biosynthesis|regulation of synthesis owl:Class GO:0009058 biolink:NamedThing biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. tmpak2llvmy_mondo_relaxed.owl anabolism|formation|synthesis|multicellular organismal biosynthetic process|biosynthesis|single-organism biosynthetic process owl:Class MONDO:0012205 biolink:NamedThing autosomal dominant striatal neurodegeneration type 1 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. tmpak2llvmy_mondo_relaxed.owl PDE8B striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant 1|autosomal dominant striatal neurodegeneration|striatal Degeneration, autosomal dominant 1|striatal degeneration, autosomal dominant caused by mutation in PDE8B|striatal degeneration, autosomal dominant|ADSD|ADSD1 SCTID:725392005|OMIM:609161 owl:Class MONDO:0011908 biolink:NamedThing juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl leukemia, juvenile myelomonocytic|JMML|JCML|juvenile chronic myelogenous leukemia|juvenile chronic myelomonocytic leukemia|chronic myelomonocytic leukemia|juvenile myelomonocytic leukemia|juvenile chronic myeloid leukemia|leukemia, chronic myelomonocytic SCTID:445227008|DOID:0050458|OMIM:607785|ICD10:C93.30|NCIT:C9233|MedDRA:10023249|ICD10:C93.3|ICDO:9946/3|EFO:1000309|ONCOTREE:JMML|Orphanet:86834|UMLS:C0349639|GARD:0009884|MESH:D054429 owl:Class HGNC:7765 biolink:NamedThing NF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007086 biolink:NamedThing autosomal dominant Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. tmpak2llvmy_mondo_relaxed.owl renal failure and sensorineural hearing loss|Alport syndrome, autosomal dominant|Alport syndrome dominant type GARD:0000624|DOID:0110032|OMIM:104200|SCTID:717766000|ICD10:Q87.8|Orphanet:88918 https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome owl:Class UBERON:0014783 biolink:NamedThing cloacal muscle Any muscle organ that is part of a cloaca. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10604 biolink:NamedThing SCO2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003354 biolink:NamedThing epithelium of rectum An epithelium that is part of a rectum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rectum epithelial tissue|rectum epithelium|epithelial tissue of rectum|rectal epithelium owl:Class MONDO:0016860 biolink:NamedThing familial adenomatous polyposis due to 5q22.2 microdeletion tmpak2llvmy_mondo_relaxed.owl colorectal adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2)|familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584|ICD10:D12.6|UMLS:CN202203 owl:Class OBO:CHR_9606-chr5q22.2 biolink:NamedThing chr5q22.2 (Human) tmpak2llvmy_mondo_relaxed.owl 113800000 112200000 hg38 owl:Class MONDO:0008861 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 1 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. tmpak2llvmy_mondo_relaxed.owl 3 Methylcrotonyl-CoA carboxylase 1 deficiency|MCCD type 1|methylcrotonylglycinuria type I|MCC 1 deficiency|MCC deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonylglycinuria|3-Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|methylcrotonoyl-CoA carboxylase 1 deficiency|3 Alpha methylcrotonylglycinuria 1|MCC1 deficiency|3-methylcrotonylglycinuria I|methylcrotonylglycinuria type 1|3 methylcrotonylglycinuria|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|3 alpha methylcrotonylglycinuria 1|MCC1D|Bmcc deficiency|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria 1|Mccd type 1|3-methylcrotonyl-CoA carboxylase 1 deficiency|deficiency of methylcrotonoyl-Coa carboxylase|3-Methylcrotonyl-Coa carboxylase 1 deficiency|Mcc1 deficiency|3-MCC deficiency|3-METHYLCROTONYL-CoA carboxylase 1 deficiency UMLS:CN028786|DOID:0080579|MESH:C535308|OMIM:210200|GARD:0005665 MONDO:0022326 https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency owl:Class HGNC:6936 biolink:NamedThing MCCC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005053 biolink:NamedThing ischemic disease Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. tmpak2llvmy_mondo_relaxed.owl ischemia NCIT:C34738|SCTID:52674009|MESH:D007511|EFO:0000556|DOID:326 Editor note: represented as a finding in other ontologies owl:Class UBERON:0004782 biolink:NamedThing gastrointestinal system serosa A serous membrane that is part of a digestive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl serous membrane of digestive system|serosa of gastrointestinal system|digestive system serous membrane|gastrointestinal system serous membrane|serous membrane of gastrointestinal system|digestive system serosa|serosa of digestive system owl:Class UBERON:0014791 biolink:NamedThing musculature of forelimb stylopod Any collection of muscles that is part of the forelimb stylopod region [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arm musculature|muscle group of arm|set of muscles of arm|musculature of arm owl:Class MONDO:0013043 biolink:NamedThing atypical hemolytic-uremic syndrome with C3 anomaly tmpak2llvmy_mondo_relaxed.owl hemolytic uremic syndrome, atypical, susceptibility to, type 5|susceptibility to atypical hemolytic uremic syndrome 5|AHUS5|hemolytic uremic syndrome, atypical, susceptibility to, 5|aHUS with C3 anomaly|D-HUS with C3 anomaly|atypical HUS with C3 anomaly|Ahus, susceptibility to, 5|hemolytic-uremic syndrome without diarrhea with C3 anomaly Orphanet:93575|OMIM:612925|ICD10:D58.8 owl:Class MONDO:0000681 biolink:NamedThing tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. tmpak2llvmy_mondo_relaxed.owl DOID:0060151 owl:Class GO:0050975 biolink:NamedThing sensory perception of touch The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach). tmpak2llvmy_mondo_relaxed.owl tactile sense|taction|perception of touch|tactition owl:Class HGNC:9965 biolink:NamedThing RERE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001088 biolink:NamedThing urine Excretion that is the output of a kidney tmpak2llvmy_mondo_relaxed.owl owl:Class N3c5d5916695e46f7aa02671b0cff397b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:12496 biolink:NamedThing UBE3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013940 biolink:NamedThing primary ciliary dyskinesia 18 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 18|primary ciliary dyskinesia 18 with or without situs inversus|DNAAF5 primary ciliary dyskinesia|ciliary dyskinesia, primary, 18|ciliary dyskinesia, primary, 18, with or without situs inversus|CILD18|primary ciliary dyskinesia type 18|primary ciliary dyskinesia caused by mutation in DNAAF5 OMIM:614874|DOID:0110604|UMLS:C3543825|ICD10:Q34.8 owl:Class HGNC:26013 biolink:NamedThing DNAAF5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011739 biolink:NamedThing pancreatic cancer, susceptibility to, 1 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. tmpak2llvmy_mondo_relaxed.owl pancreatic cancer, susceptibility to, type 1|familial pancreatic carcinoma caused by mutation in PALLD|susceptibility to pancreatic cancer 1|PALLD familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 1|Pnca1 OMIM:606856 owl:Class HGNC:17068 biolink:NamedThing PALLD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035038 biolink:NamedThing carpal tunnel The fibro-osseous passageway on the palmar side of the wrist that connects the distal forearm to the middle compartment of the deep plane of the palm. tmpak2llvmy_mondo_relaxed.owl carpal canal|carpel tunnel owl:Class UBERON:0004452 biolink:NamedThing carpal region A mesopodium that is part of a manus. Includes as parts the carpal skeleton and associated tissues[cjm]. The anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, the flexor retinaculum, and the extensor retinaculum[WP,unvetted] tmpak2llvmy_mondo_relaxed.owl articulatio radiocarpea|wrist region|carpal segment|manus mesopodium|carpal limb segment|wrist|fore basipodium|regio carpalis|fore mesopodium|carpus of fore-paw|carpus|hand mesopodium owl:Class GO:0099529 biolink:NamedThing neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel). tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000699 biolink:NamedThing exposure to probe An exposure to probe. tmpak2llvmy_mondo_relaxed.owl exposure to probe owl:Class CHEBI:50406 biolink:NamedThing probe A role played by a molecular entity used to study the microscopic environment. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:28976 biolink:NamedThing carbonic acid tmpak2llvmy_mondo_relaxed.owl H2CO3|carbonic acid|dihydroxidooxidocarbon|Carbonic acid|Dihydrogen carbonate|Koehlensaeure|[CO(OH)2] owl:Class CHEBI:17544 biolink:NamedThing hydrogencarbonate The carbon oxoanion resulting from the removal of a proton from carbonic acid. tmpak2llvmy_mondo_relaxed.owl [CO2(OH)](-)|hydrogencarbonate(1-)|BICARBONATE ION|hydrogentrioxocarbonate(1-)|Hydrogencarbonate|HCO3-|hydrogen carbonate|HCO3(-)|Bicarbonate|hydrogentrioxocarbonate(IV)|hydroxidodioxidocarbonate(1-)|hydrogen(trioxidocarbonate)(1-)|hydrogencarbonate|Acid carbonate owl:Class MONDO:0014123 biolink:NamedThing primary ciliary dyskinesia 21 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, 21|DRC1 primary ciliary dyskinesia|primary ciliary dyskinesia type 21|ciliary dyskinesia, primary, type 21|primary ciliary dyskinesia 21 without situs inversus|ciliary dyskinesia, primary, 21, without situs inversus|CILD21 UMLS:C3809087|DOID:0110596|OMIM:615294|ICD10:Q34.8 owl:Class HGNC:24245 biolink:NamedThing DRC1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000275 biolink:NamedThing smooth muscle cell of small intestine A smooth muscle cell that is part of the small intestine. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of small intestine FMA:15050 cell owl:Class NCBITaxon:27458 biolink:NamedThing Chrysops tmpak2llvmy_mondo_relaxed.owl deer flies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022349 biolink:NamedThing congenital absence of septum pellucidum The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. tmpak2llvmy_mondo_relaxed.owl absence of septum pellucidum MESH:C535562|ICD9:742.4|GARD:0009253|SCTID:253143001 Editor note: consider representing as finding https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum owl:Class GO:0030901 biolink:NamedThing midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). tmpak2llvmy_mondo_relaxed.owl mesencephalon development owl:Class MONDO:0008592 biolink:NamedThing tricho-dento-osseous syndrome Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. tmpak2llvmy_mondo_relaxed.owl Tricho-dento-osseous syndrome 1|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|TDO|TDO syndrome|TRICHODENTOOSSEOUS syndrome|TDO syndrome 1|enamel hypoplasia and hypocalcification with associated strikingly curly hair SCTID:38993008|GARD:0007799|ICD10:Q82.4|MESH:C536549|Orphanet:3352|GARD:0005252|OMIM:190320|DOID:0111565|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome owl:Class HGNC:2916 biolink:NamedThing DLX3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17964 biolink:NamedThing RDH11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001258 biolink:NamedThing vertebral artery occlusion tmpak2llvmy_mondo_relaxed.owl occlusion and stenosis of vertebral artery|vertebral artery occlusion|vertebrobasial artery occlusion ICD10:I65.0|ICD9:433.2|ICD9:433.20|SCTID:195182007|DOID:11299|ICD9:433.21 owl:Class MONDO:0010517 biolink:NamedThing ciliary dyskinesia, primary, 36, X-linked Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 36, X-linked|CILD36|primary ciliary dyskinesia caused by mutation in PIH1D3|ciliary dyskinesia, primary, 36, X-linked; CILD36|PIH1D3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 36, with or without situs inversus UMLS:CN240511|UMLS:C4478372|OMIM:300991 owl:Class HGNC:28570 biolink:NamedThing DNAAF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019610 biolink:NamedThing Zollinger-Ellison syndrome Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. tmpak2llvmy_mondo_relaxed.owl Z E syndrome|Zollinger-Ellison syndrome (disease)|gastrinoma|Z-E syndrome|Zollinger Ellison syndrome|Zollinger-Ellison syndrome|pancreatic ulcerogenic tumor syndrome|ZES NCIT:C3453|HP:0002044|ICD10:D37.7|EFO:0007549|ICD10:C25.4|UMLS:C0043515|MedDRA:10017852|ICD10:E16.4|GARD:0007918|MESH:D015043|DOID:0050782|SCTID:53132006|Orphanet:913 owl:Class MONDO:0001867 biolink:NamedThing phaeohyphomycosis An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. tmpak2llvmy_mondo_relaxed.owl infection by dematiacious fungi [Phaehyphomycosis]|phaehyphomycosis|infection by dematiacious fungi GARD:0012803|SCTID:47158003|MESH:D060446|DOID:14049|ICD9:117.8 https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis owl:Class NCBITaxon:66225 biolink:NamedThing Phaeoannellomyces tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903488 biolink:NamedThing negative regulation of lactation Any process that stops, prevents or reduces the frequency, rate or extent of lactation. tmpak2llvmy_mondo_relaxed.owl down regulation of lactation|inhibition of lactation|downregulation of lactation|down-regulation of lactation owl:Class MONDO:0007118 biolink:NamedThing isolated anhidrosis with normal sweat glands Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene. tmpak2llvmy_mondo_relaxed.owl ITPR2 anhidrosis|ANHD|anhidrosis, isolated, with normal sweat glands|isolated generalized anhidrosis with normal sweat glands|anhidrosis caused by mutation in ITPR2|Dann-Epstein-Sohar syndrome Orphanet:468666|DOID:0060603|OMIM:106190|UMLS:C1862871 owl:Class MONDO:0013750 biolink:NamedThing atrial septal defect 8 Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpak2llvmy_mondo_relaxed.owl atrial septal defect type 8|atrial heart septal defect type 8|CITED2 atrial heart septal defect|atrial septal defect 8|atrial heart septal defect caused by mutation in CITED2|ASD8 OMIM:614433|ICD10:Q21.1|DOID:0110113 owl:Class HGNC:1987 biolink:NamedThing CITED2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002598 biolink:NamedThing bronchial smooth muscle cell tmpak2llvmy_mondo_relaxed.owl BTO:0004402 tmeehan 2011-03-06T05:46:39Z cell owl:Class MONDO:0013864 biolink:NamedThing Cornelia de Lange syndrome 4 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene. tmpak2llvmy_mondo_relaxed.owl Cornelia de Lange syndrome 4|Cornelia De Lange syndrome type 4|RAD21 Cornelia de Lange syndrome|CDLS4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia DE Lange syndrome 4 UMLS:C3553517|OMIM:614701|DOID:0080508 owl:Class HGNC:9811 biolink:NamedThing RAD21 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009593 biolink:NamedThing spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia Sedaghatian type|SMDS|lethal metaphyseal dysplasia|spondylometaphyseal dysplasia, Sedaghatian type|Sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal ICD10:Q77.8|GARD:0004993|MESH:C535798|OMIM:250220|Orphanet:93317|UMLS:C1855229 https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type owl:Class HGNC:4556 biolink:NamedThing GPX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012588 biolink:NamedThing neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpak2llvmy_mondo_relaxed.owl neuronal ceroid lipofuscinosis 7|CLN7 disease|CLN7 disease, late infantile|MFSD8 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 7|neuronal ceroid lipofuscinosis type 7|ceroid lipofuscinosis, neuronal, 7|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|CLN7 ICD10:E75.4|GARD:0001220|Orphanet:228366|MESH:C563989|DOID:0110722|OMIM:610951 https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 owl:Class ECTO:4000024 biolink:NamedThing exposure to increased air pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in pressure of air owl:Class N8c3dfa07fa82465b9c636e0a84e518c7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013754 biolink:NamedThing cutis laxa, autosomal recessive, type 1B An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. tmpak2llvmy_mondo_relaxed.owl ARCL1B|cutis laxa, autosomal recessive, type IB|autosomal recessive cutis laxa type IB DOID:0070133|UMLS:C3280798|ICD10:Q82.8|OMIM:614437 owl:Class HGNC:25070 biolink:NamedThing ACD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010299 biolink:NamedThing scleral mesenchyme Mesenchyme surrounding the developing optic cup which develops into the sclera. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001939 biolink:NamedThing skin epithelioid hemangioma A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. tmpak2llvmy_mondo_relaxed.owl histiocytoid hemangioma of skin|histiocytoid hemangioma of the skin|angiolymphoid hyperplasia of skin|epithelioid hemangioma of skin|angiolymphoid hyperplasia of the skin|angiolymphoid cutaneous hyperplasia|skin epithelioid hemangioma|epithelioid hemangioma of the skin|histiocytoid hemangioma of zone of skin|zone of skin histiocytoid hemangioma SCTID:400131007|UMLS:C0002989|NCIT:C7393|DOID:14308|EFO:1001424 owl:Class UBERON:0006272 biolink:NamedThing oronasal cavity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006352 biolink:NamedThing paranasal sinus adenoid cystic carcinoma A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of accessory sinus|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of paranasal sinus|accessory sinus adenoid cystic carcinoma|paranasal sinus adenoid cystic carcinoma EFO:1000454|NCIT:C6019|UMLS:C1335337 owl:Class MONDO:0006527 biolink:NamedThing anhidrosis Lack of sweating or the ability to sweat when provoked by the appropriate stimulus. tmpak2llvmy_mondo_relaxed.owl absence of sweating|adiaphoresis SCTID:39659002|ICD9:705.0|DOID:11156|EFO:1000670|ICD10:L74.4 owl:Class UBERON:0006286 biolink:NamedThing radius cartilage element A cartilaginous condensation that has the potential to develop into a radius bone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008353 biolink:NamedThing pruritic urticarial papules and plaques of pregnancy tmpak2llvmy_mondo_relaxed.owl pruritic urticarial papules and plaques of pregnancy, familial (subtype)|pruritic urticarial papules and plaques of pregnancy|pruritic urticarial papules plaques of pregnancy|PUPPP|polymorphic eruption of pregnancy GARD:0009635|MESH:C535817|SCTID:88697005|OMIM:178995|MedDRA:10066100|Orphanet:64745|ICD10:O26.8|ICD9:692.9|ICD9:646.80 owl:Class UBERON:0002358 biolink:NamedThing peritoneum A serous membrane that lines the peritoneal cavity[VHOG,modified]. tmpak2llvmy_mondo_relaxed.owl peritonaeum owl:Class OBO:CHR_9606-chr3q29 biolink:NamedThing chr3q29 (Human) tmpak2llvmy_mondo_relaxed.owl 198295559 192600000 hg38 owl:Class GO:0150074 biolink:NamedThing positive regulation of protein-glutamine gamma-glutamyltransferase activity Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class N07337090ea094c759d6dac0a7d7da921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014937 biolink:NamedThing aniridia 2 tmpak2llvmy_mondo_relaxed.owl aniridia type 2|aniridia 2|AN2|aniridia 2; AN2 SCTID:253232000|OMIM:617141|MESH:C536372 owl:Class HGNC:1171 biolink:NamedThing ELP4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000286 biolink:NamedThing Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. tmpak2llvmy_mondo_relaxed.owl Plica palpebronasalis|Eye folds|Prominent eye folds|Epicanthal fold|Epicanthic folds|Palpebronasal fold|Epicanthal folds UMLS:C0678230 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. HP:0007930|HP:0000624 human_phenotype owl:Class UBERON:0001331 biolink:NamedThing skin of penis A zone of skin that is part of a penis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl penis zone of skin|penile skin|zone of skin of penis|penis skin owl:Class UBERON:0001085 biolink:NamedThing skin of trunk A zone of skin that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of trunk|torso zone of skin|trunk zone of skin|zone of skin of torso|trunk skin owl:Class MONDO:0014517 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 9 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene. tmpak2llvmy_mondo_relaxed.owl STX1b generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus caused by mutation in STX1b|GEFSP9|generalized epilepsy with febrile seizures plus caused by mutation in STX1B|generalized epilepsy with febrile seizures plus, type 9|Gefs+, type 9|STX1B generalized epilepsy with febrile seizures plus DOID:0111301|UMLS:C4015395|OMIM:616172 owl:Class HGNC:18539 biolink:NamedThing STX1B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0019263 biolink:NamedThing gray matter of hindbrain tmpak2llvmy_mondo_relaxed.owl gray matter of the hindbrain owl:Class MONDO:0010899 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 1 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, nocturnal frontal lobe, type 1|epilepsy, nocturnal frontal lobe, 1|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|ENFL1|nocturnal frontal lobe epilepsy 1|autosomal dominant nocturnal frontal lobe epilepsy type 1 OMIM:600513|MESH:C563930|DOID:0060682|UMLS:C1838049 owl:Class HGNC:1958 biolink:NamedThing CHRNA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013067 biolink:NamedThing cataract 34 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene. tmpak2llvmy_mondo_relaxed.owl CATC3|cataract 34, multiple types|FOXE3 cataract (disease)|cataract (disease) caused by mutation in FOXE3|CTRCT34|cataract, autosomal recessive congenital 3|cataract 34, multiple types, with or without microcornea|autosomal recessive congenital cataract 3|cataract 34 multiple types with or without microcornea ICD10:Q12.0|UMLS:C2751822|MESH:C567835|OMIM:612968|DOID:0110230 owl:Class HGNC:3808 biolink:NamedThing FOXE3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014535 biolink:NamedThing hyperproinsulinemia tmpak2llvmy_mondo_relaxed.owl hyperproinsulinemia SCTID:237613005|OMIM:616214|ICD9:250.80|UMLS:C0342283|MESH:C562776 owl:Class HGNC:6081 biolink:NamedThing INS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007283 biolink:NamedThing cataract 42 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene. tmpak2llvmy_mondo_relaxed.owl CTRCT42|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.|cataract 42|CRYBA2 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in CRYBA2|cataract type 42 OMIM:115900|ICD10:Q12.0|UMLS:C4011454|DOID:0110237 Not in the OMIM series. owl:Class HGNC:2395 biolink:NamedThing CRYBA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014847 biolink:NamedThing spermatogenic failure 15 Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 15|SPGF15|SYCE1 azoospermia|azoospermia caused by mutation in SYCE1|spermatogenic failure type 15|spermatogenic failure 15; SPGF15 OMIM:616950|UMLS:C4310779|DOID:0070172 owl:Class CL:2000005 biolink:NamedThing brain macroglial cell Any macroglial cell that is part of a brain. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-03-28T21:35:27Z cell owl:Class MONDO:0040998 biolink:NamedThing Pasteurella multocida infectious disease tmpak2llvmy_mondo_relaxed.owl infection by Pasteurella multocida|infection caused by Pasteurella multocida GARD:0009774|UMLS:C1260911|SCTID:197718007 owl:Class NCBITaxon:747 biolink:NamedThing Pasteurella multocida tmpak2llvmy_mondo_relaxed.owl Bacterium multocidum|Pasteurella gallicida|Pasteurella cholerae-gallinarum|Micrococcus gallicidus GC_ID:11|PMID:15184562 ncbi_taxonomy owl:Class UBERON:0005424 biolink:NamedThing presumptive retinal pigmented epithelium Portion of tissue that is the outer layer of the optic cup and will become the retinal pigmented epithelium. tmpak2llvmy_mondo_relaxed.owl optic cup outer layer|future pigmented retinal epithelium|future retinal pigmented epithelium|presumptive pigmented epithelia|future PRE|outer layer optic cup|future pigmented layer|presumptive pigmented epithelium|future RPE owl:Class UBERON:0000122 biolink:NamedThing neuron projection bundle A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. tmpak2llvmy_mondo_relaxed.owl funiculus|nerve fiber bundle|neural fiber bundle owl:Class MONDO:0000827 biolink:NamedThing salmonellosis Infections with bacteria of the genus salmonella. tmpak2llvmy_mondo_relaxed.owl rare form of salmonellosis|infections, Salmonella|Salmonella infection MESH:D012480|ICD10:A02.0|UMLS:C0036117|ICD9:003.9|ICD10:A01.2|SCTID:302231008|ICD10:A01.0|ICD10:A02.9|ICD10:A02.2|ICD10:A01.1|MedDRA:10039447|EFO:1001418|Orphanet:795|ICD9:003.8|ICD10:A01.4|ICD10:A02.8|ICD10:A01.3|ICD9:003.0|UMLS:CN205993|DOID:0060859|ICD10:A02.1 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0002194 biolink:NamedThing vestibular papilloma A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. tmpak2llvmy_mondo_relaxed.owl vestibular papilloma|mammalian vulva squamous papilloma|vulvar squamous papilloma UMLS:C1336982|DOID:2071|NCIT:C6376 owl:Class HGNC:3762 biolink:NamedThing FLRT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018783 biolink:NamedThing fibroblastic rheumatism tmpak2llvmy_mondo_relaxed.owl SCTID:399964004|ICD9:729.0|UMLS:C1302753|Orphanet:477650 owl:Class UBERON:0011955 biolink:NamedThing left hepatic vein A hepatic vein that is part of a left lobe of liver. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010449 biolink:NamedThing autism, susceptibility to, X-linked 5 tmpak2llvmy_mondo_relaxed.owl susceptibility to X-linked autism 5|autism, susceptibility to, X-linked type 5|AUTSX5|autism, susceptibility to, X-linked 5 OMIM:300847 owl:Class HGNC:10298 biolink:NamedThing RPL10 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035237 biolink:NamedThing branch of internal carotid artery tmpak2llvmy_mondo_relaxed.owl internal carotid arterial subdivision|subdivision of internal carotid artery owl:Class MONDO:0011018 biolink:NamedThing brachyolmia-amelogenesis imperfecta syndrome Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. tmpak2llvmy_mondo_relaxed.owl tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|amelogenesis imperfecta and platyspondyly|tooth agenesis, selective, 6|DASS|selective tooth agenesis 5|platyspondyly with amelogenesis imperfecta|Verloes Bourguignon syndrome|Verloes-Bourguignon syndrome|STHAG6|skeletal dysplasia with amelogenesis imperfecta and platyspondyly|dental anomalies and short stature GARD:5478|ICD10:Q76.3|Orphanet:2899|SCTID:716195006|DOID:0090143|OMIM:601216|GARD:0005478 owl:Class HGNC:6716 biolink:NamedThing LTBP3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003853 biolink:NamedThing spinal cord neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal neural crest|neural crest spinal cord owl:Class MONDO:0008685 biolink:NamedThing Wolff-Parkinson-white syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. tmpak2llvmy_mondo_relaxed.owl accessory atrioventricular pathways|WPW|anomalous A-V excitation|Wolff-Parkinson-White pattern (finding)|Wolff-Parkinson-white syndrome (disease)|anomalous atrioventricular excitation|Wpw syndrome|WOLFF-Parkinson-WHITE syndrome|preexcitation syndrome|Wolff-Parkinson-White pattern|Wolff-Parkinson-White syndrome Wolff-Parkinson-white syndrome (disease) ICD9:426.7|EFO:1001450|HP:0001716|SCTID:17869006|DOID:384|NCIT:C35132|OMIM:194200|ICD10:I45.6 owl:Class MONDO:0012041 biolink:NamedThing MUTYH-related attenuated familial adenomatous polyposis An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. tmpak2llvmy_mondo_relaxed.owl FAP2|MUTYH-related AFAP|MUTYH-associated polyposis|familial adenomatous polyposis, type 2|autosomal recessive familial adenomatous polyposis|familial adenomatous polyposis 2|MAP syndrome|MAP|MUTYH-related attenuated familial adenomatous polyposis|familial adenomatous polyposis, 2|adenomas, multiple colorectal, autosomal recessive|autosomal recessive multiple colorectal adenomas|colorectal adenomatous polyposis, autosomal recessive|MUTYH-related attenuated familial polyposis coli|MUTYH-related attenuated FAP|MYH-associated polyposis GARD:0010805|MESH:C563924|ICD10:D12.6|NCIT:C96520|Orphanet:247798|UMLS:C1837991|OMIM:608456 https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis owl:Class HGNC:7527 biolink:NamedThing MUTYH tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001873 biolink:NamedThing cylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. tmpak2llvmy_mondo_relaxed.owl rod-shaped|tubulate|rod-like owl:Class UBERON:0005037 biolink:NamedThing mucosa of lobar bronchus A mucosa that is part of a lobar bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lobar bronchus mucosa|mucous membrane of secondary bronchus|organ mucosa of lobar bronchus|mucosa of secondary bronchus|lobar bronchus organ mucosa|secondary bronchus mucosa of organ|organ mucosa of secondary bronchus|mucosa of organ of lobar bronchus|secondary bronchus mucosa|secondary bronchus organ mucosa|mucosa of organ of secondary bronchus|lobar bronchus mucous membrane|secondary bronchus mucous membrane|lobar bronchus mucosa of organ|mucous membrane of lobar bronchus|lobar bronchial mucosa owl:Class UBERON:0002183 biolink:NamedThing lobar bronchus The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]. tmpak2llvmy_mondo_relaxed.owl secondary bronchi|bronchi lobaris|secondary bronchus|lobar bronchi owl:Class MONDO:0013863 biolink:NamedThing combined immunodeficiency due to LRBA deficiency tmpak2llvmy_mondo_relaxed.owl Cid due to LRBA deficiency|immunodeficiency, common variable, 8, with autoimmunity|combined immunodeficiency due to LRBA deficiency|CVID8 ICD10:D81.8|Orphanet:445018|UMLS:C3553512|OMIM:614700 owl:Class HGNC:1742 biolink:NamedThing LRBA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26901 biolink:NamedThing OTOGL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008386 biolink:NamedThing Axenfeld-Rieger syndrome type 1 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. tmpak2llvmy_mondo_relaxed.owl Rgs|Axenfeld-Rieger syndrome caused by mutation in PITX2|Axenfeld-Rieger syndrome, type 1|Rieger syndrome, type 1|Rieger syndrome type 1|RIEG1|Rieg|Axenfeld-Rieger syndrome type 1|PITX2 Axenfeld-Rieger syndrome ICD10:Q13.8|DOID:0110120|NCIT:C75015|UMLS:C3714873|OMIM:180500 owl:Class HGNC:9005 biolink:NamedThing PITX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012924 biolink:NamedThing Diamond-Blackfan anemia 4 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. tmpak2llvmy_mondo_relaxed.owl DBA4|RPS17 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPS17|Diamond-Blackfan anemia 4|Diamond-Blackfan Anemia type 4 UMLS:C2675860|MESH:C567281|OMIM:612527 owl:Class HGNC:10397 biolink:NamedThing RPS17 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004128 biolink:NamedThing optic vesicle The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. tmpak2llvmy_mondo_relaxed.owl eye vesicle|ocular vesicle|evagination|optic vesicles owl:Class UBERON:0008969 biolink:NamedThing dental follicle A sac containing the developing tooth and its odontogenic organ. The dental follicle (DF) differentiates into the periodontal ligament. In addition, it may be the precursor of other cells of the periodontium, including osteoblasts, cementoblasts and fibroblasts. They develop into the alveolar bone, the cementum with Sharpey's fibers and the periodontal ligament fibers respectively. tmpak2llvmy_mondo_relaxed.owl dental sac|tooth follicle owl:Class OBO:CHR_9606-chr5q14.3 biolink:NamedThing chr5q14.3 (Human) tmpak2llvmy_mondo_relaxed.owl 93000000 83500000 hg38 owl:Class MONDO:0021163 biolink:NamedThing kidney neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. tmpak2llvmy_mondo_relaxed.owl renal tumors|neoplasm of kidney|neoplasm of the kidney|renal tumor|tumor of the kidney|tumor of kidney|kidney neoplasm (disease)|renal neoplasm|kidney tumor|kidney neoplasm SCTID:126880001|ICD9:239.5|NCIT:C3150|ONCOTREE:KIDNEY owl:Class MONDO:0024658 biolink:NamedThing extrahepatic bile duct sarcoma A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of extrahepatic bile duct|sarcoma of the extrahepatic bile duct|extrahepatic bile duct sarcoma UMLS:C2205442|NCIT:C5029 owl:Class MONDO:0017881 biolink:NamedThing Kyasanur forest disease Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. tmpak2llvmy_mondo_relaxed.owl Kyasanur forest disease virus disease or disorder|monkey disease|KFD|KFD virus|Kyasanur forest disease virus infectious disease|Kyasanur hemorrhagic fever|monkey fever|Kyasanur forest disease virus caused disease or disorder GARD:0008257|UMLS:C0022810|SCTID:23097003|ICD10:A98.2|ICD9:065.2|Orphanet:319254|MESH:D007733|DOID:11320|MedDRA:10023505 https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease owl:Class MONDO:0018479 biolink:NamedThing congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. tmpak2llvmy_mondo_relaxed.owl adrenogenital syndrome|congenital lipoid adrenal hyperplasia|adrenogenital disorder|congenital adrenal gland hyperplasia|adrenal hyperplasia|CAH|lipoid CAH|adrenal hyperplasia, congenital GARD:0001467|MESH:D000312|Orphanet:418|UMLS:C0701163|ICD10:E25|SCTID:237751000|NCIT:C34360|UMLS:C0001627|MedDRA:10010323|ICD10:E25.9|ICD9:255.2|DOID:0050811|ICD10:E25.0 owl:Class GO:1902476 biolink:NamedThing chloride transmembrane transport The process in which chloride is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012447 biolink:NamedThing synpolydactyly type 3 tmpak2llvmy_mondo_relaxed.owl SPD3|synpolydactyly, Malik type|synpolydactyly 3|SPD, Malik type|SD2c|SD2, Malik type OMIM:610234|UMLS:C1853255|MESH:C565216|ICD10:Q70.0|ICD10:Q70.2|Orphanet:295199 owl:Class GO:2000609 biolink:NamedThing regulation of thyroid hormone generation Any process that modulates the frequency, rate or extent of thyroid hormone generation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013735 biolink:NamedThing microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. tmpak2llvmy_mondo_relaxed.owl microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|MCHCCD|Zaki-Gleeson syndrome|microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome OMIM:614407|UMLS:C3280692|Orphanet:329332 owl:Class MONDO:0013201 biolink:NamedThing Waardenburg syndrome type 4B A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. tmpak2llvmy_mondo_relaxed.owl WS4B|Waardenburg syndrome, type 4B|Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|Waardenburg syndrome type 4B|EDN3 Waardenburg syndrome|Waardenburg syndrome caused by mutation in EDN3|Waardenburg syndrome with Hirschsprung disease type 4B UMLS:C2750457|OMIM:613265|MESH:C567680|DOID:0110954 owl:Class GO:0045863 biolink:NamedThing negative regulation of pteridine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpak2llvmy_mondo_relaxed.owl negative regulation of pteridine metabolism|downregulation of pteridine metabolic process|inhibition of pteridine metabolic process|down regulation of pteridine metabolic process|down-regulation of pteridine metabolic process owl:Class UBERON:0007242 biolink:NamedThing tunica intima of vein A tunica intima that is part of a vein. tmpak2llvmy_mondo_relaxed.owl tunica interna (intima)(venae)|venous intima owl:Class UBERON:0004797 biolink:NamedThing blood vessel layer Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011120 biolink:NamedThing laryngeal joint A skeletal joint that connects a laryngeal cartilage. tmpak2llvmy_mondo_relaxed.owl joint of larynx|laryngeal articulation owl:Class MONDO:0045063 biolink:NamedThing major salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of major salivary gland|major salivary gland adenoid cystic cancer|major salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of the major salivary gland NCIT:C5905|UMLS:C1334548 owl:Class MONDO:0003175 biolink:NamedThing salivary gland adenoid cystic carcinoma An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. tmpak2llvmy_mondo_relaxed.owl salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma (morphologic abnormality)|adenoid cystic carcinoma of the salivary gland|cylindroma (morphologic abnormality)|adenoid cystic cancer|salivary gland adenoid cystic cancer|saliva-secreting gland adenoid cystic carcinoma|adenoid cystic carcinoma of salivary gland GARD:0012346|NCIT:C8026|UMLS:C0279751|SCTID:422833009|DOID:4866 owl:Class MONDO:0006740 biolink:NamedThing empty sella syndrome Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl empty sella syndrome|empty sella turcica|empty sella SCTID:237722004|NCIT:C84686|UMLS:C0014008|MESH:D004652|DOID:3642|MedDRA:10014567|ICD9:253.8|GARD:0006331|EFO:1000914 https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome owl:Class MONDO:0045010 biolink:NamedThing glycoprotein metabolism disease A disease that has its basis in the disruption of glycoprotein metabolic process. tmpak2llvmy_mondo_relaxed.owl glycoprotein metabolic process disease|glycoprotein metabolism disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process SCTID:238045003|UMLS:C0342844 Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) owl:Class CL:1000703 biolink:NamedThing kidney pelvis urothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001114 cell owl:Class MONDO:0003060 biolink:NamedThing biliary tract cancer A malignant neoplasm involving the biliary tree tmpak2llvmy_mondo_relaxed.owl malignant biliary tree neoplasm|biliary tree cancer|cancer of biliary tree|malignant tumour of biliary tract|malignant neoplasm of biliary tree DOID:4607|ICD9:156.9|ICD10:C24.9|GARD:0005924 https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer owl:Class UBERON:0005227 biolink:NamedThing manual digit epithelium An epithelium that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand digit epithelium|fore limb digit epithelium|finger epithelium owl:Class MONDO:0005485 biolink:NamedThing psychotic disorder An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities. tmpak2llvmy_mondo_relaxed.owl psychosis|mental or behavioural disorder ICD9:298.8|DOID:2468|SCTID:69322001|EFO:0005407|HP:0000709|NCIT:C78576|ICD9:298.9 owl:Class MONDO:0013267 biolink:NamedThing distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. tmpak2llvmy_mondo_relaxed.owl chromosome 16p11.2 deletion syndrome, 220-KB|distal 16p11.2 microdeletion syndrome|body Mass index quantitative trait locus 16|distal monosomy 16p11.2|distal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, type 220kb|chromosome 16p11.2 deletion syndrome, 220kb|obesity, susceptibility to Orphanet:261222|ICD10:Q93.5|SCTID:733521003|OMIM:613444|DOID:0060398|UMLS:C3150701|UMLS:C4518824 owl:Class NCBITaxon:43219 biolink:NamedThing Herpotrichiellaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:82104 ncbi_taxonomy owl:Class MONDO:0014317 biolink:NamedThing pancytopenia-developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl bone marrow failure syndrome type 2|BMFS2|pancytopenia-developmental delay syndrome|bone marrow failure syndrome 2|Trilineage bone marrow failure-developmental delay syndrome Orphanet:401764|ICD10:D61.0|UMLS:C3810350|OMIM:615715 owl:Class MONDO:0001713 biolink:NamedThing inherited aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl constitutional aplastic anemia|rare constitutional aplastic anemia|congenital hypoplastic anemia|constitutional aplastic anaemia|congenital aplastic anemia|hereditary aplastic anemia|hypoplastic anemia - familial SCTID:28975000|ICD10:D61.01|ICD9:284.0|GARD:0006149|DOID:1342|Orphanet:68383|ICD10:D61.0|ICD9:284.09|UMLS:C0949116|MESH:D029502|UMLS:C0702159 In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency owl:Class MONDO:0019122 biolink:NamedThing idiopathic acute eosinophilic pneumonia Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. tmpak2llvmy_mondo_relaxed.owl Loffler's syndrome|Loeffler's pneumonia|Loffler syndrome|IAEP|Löffler syndrome|Loeffler syndrome|pulmonary infiltrates with eosinophilia GARD:0000519|UMLS:C4518469|GARD:0000107|UMLS:CN227574|Orphanet:724|UMLS:C0242459|SCTID:64936001|DOID:9503|NCIT:C35301|ICD10:J82 owl:Class MONDO:0008546 biolink:NamedThing thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. tmpak2llvmy_mondo_relaxed.owl Platyspondylic lethal skeletal dysplasia, San Diego type|thanatophoric dwarfism|thanatophoric dysplasia type I|thanatophoric dysplasia|type 1 thanatophoric dysplasia|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dwarfism type 1|thanatophoric dysplasia, type 1|TD1|thanatophoric dysplasia, type I|PLSD San Diego type|thanatophoric dwarfism 1 UMLS:C1300256|GARD:0004889|NCIT:C98583|ICD10:Q77.1|Orphanet:1860|GARD:0009295|UMLS:C1868678|OMIM:187600 owl:Class MONDO:0017042 biolink:NamedThing thanatophoric dysplasia Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. tmpak2llvmy_mondo_relaxed.owl Td|thanatophoric dwarfism|dwarfism thanatophoric UMLS:C0039743|ICD9:259.4|NCIT:C85187|SCTID:29352008|MedDRA:10049808|Orphanet:2655|ICD10:Q77.1|MESH:D013796|GARD:0000085|DOID:13481 owl:Class MONDO:0044303 biolink:NamedThing congenital heart defects and ectodermal dysplasia tmpak2llvmy_mondo_relaxed.owl CHDED|congenital heart defects and ectodermal dysplasia UMLS:C4479250|OMIM:617364 owl:Class HGNC:16966 biolink:NamedThing ZMYND11 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070483 biolink:NamedThing detection of hypoxia The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpak2llvmy_mondo_relaxed.owl detection of reduced oxygen levels owl:Class MONDO:0004615 biolink:NamedThing upper gum cancer A cancer involving a gingiva of upper jaw. tmpak2llvmy_mondo_relaxed.owl malignant gingiva of upper jaw neoplasm|cancer of gingiva of upper jaw|malignant tumor of upper gingiva|gingiva of upper jaw cancer|malignant neoplasm of gingiva of upper jaw|malignant tumour of upper gum ICD10:C03.0|DOID:8601|ICD9:143.0|SCTID:363383000|UMLS:C0153365 owl:Class SO:0000460 biolink:NamedThing vertebrate_immunoglobulin_T_cell_receptor_segment Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor. tmpak2llvmy_mondo_relaxed.owl vertebrate immunoglobulin T cell receptor segment|vertebrate_immunoglobulin/T-cell receptor gene owl:Class SO:0000301 biolink:NamedThing vertebrate_immune_system_gene_recombination_feature A feature where recombination has occurred for the purpose of generating a diversity in the immune system. tmpak2llvmy_mondo_relaxed.owl vertebrate immune system gene recombination feature owl:Class GO:2000848 biolink:NamedThing positive regulation of corticosteroid hormone secretion Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl positive regulation of corticosteroid secretion owl:Class GO:2000846 biolink:NamedThing regulation of corticosteroid hormone secretion Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl regulation of corticosteroid secretion owl:Class MONDO:0009237 biolink:NamedThing focal epithelial hyperplasia Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. tmpak2llvmy_mondo_relaxed.owl focal epithelial hyperplasia, oral|multifocal epithelial hyperplasia|heck's disease|FEH, oral|heck disease UMLS:C0206067|SCTID:6121001|EFO:0007275|DOID:5362|NCIT:C97083|ICD9:528.79|OMIM:229045|MESH:D017573 owl:Class MONDO:0013035 biolink:NamedThing orofaciodigital syndrome XI Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl oral-facial-digital syndrome type 11|oral facial digital syndrome type 11|orofaciodigital syndrome type 11|Gabrielli syndrome|OFD11|oral facial digital syndrome 11|oral-facial-digital syndrome, Gabrielli type|orofaciodigital syndrome, Gabrielli type|orofaciodigital syndrome type XI|OFD syndrome 11|orofaciodigital syndrome 11|Ofds 11|oral-Facial-digital syndrome with skeletal anomalies|orofaciodigital syndrome XI|oral-Facial-digital syndrome, type 11 OMIM:612913|SCTID:718681002|Orphanet:141000|DOID:0060381|MESH:C557821|GARD:0004118|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 owl:Class MONDO:0015375 biolink:NamedThing orofaciodigital syndrome Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl oral facial digital syndromes|orofaciodigital syndromes|OFD|oral-facial-digital syndromes|orofaciodigital syndrome|oral-facial-digital syndrome Orphanet:140997|SCTID:52868006|ICD9:759.89|MESH:D009958|DOID:4501|OMIMPS:311200|ICD10:Q87.0|GARD:0010692 owl:Class UBERON:0015794 biolink:NamedThing left lung lobar bronchus epithelium A epithelium that is part of a lobar bronchus of left lung. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002339 biolink:NamedThing epithelium of lobar bronchus The tissue made up of epithelial cells that lines the inside of the lobar bronchus. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of lobar bronchus|secondary bronchus epithelial tissue|lobar bronchus epithelium|lobar bronchus epithelial tissue|secondary bronchus epithelium|epithelium of secondary bronchus|epithelial tissue of secondary bronchus|lobar bronchial epithelium owl:Class MONDO:0021491 biolink:NamedThing benign neoplasm of gum A benign neoplasm that involves the gingiva. tmpak2llvmy_mondo_relaxed.owl benign tumor of the gum|benign gingival neoplasm|benign neoplasm of the gingiva|benign gum neoplasm|benign neoplasm of gingiva|benign tumor of gum|benign gum tumor|benign tumor of the gingiva|gingiva benign neoplasm|benign neoplasm of the gum|benign gingival tumor|benign tumor of gingiva UMLS:C0347201|ICD9:210.4|SCTID:92126004|NCIT:C4598 owl:Class HP:0005368 biolink:NamedThing Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. tmpak2llvmy_mondo_relaxed.owl Defective humoral immunity UMLS:C3150510 human_phenotype owl:Class MONDO:0021658 biolink:NamedThing vascular ectasia tmpak2llvmy_mondo_relaxed.owl vascular ectasia NCIT:C45481|UMLS:C0002959 owl:Class MONDO:0025494 biolink:NamedThing porcine reproductive and respiratory syndrome A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048) tmpak2llvmy_mondo_relaxed.owl swine disease, mystery|mystery swine disease|swine infertility and respiratory syndrome|blue-eared pig disease|porcine epidemic abortion and respiratory syndrome|pig disease, blue-eared|blue eared pig disease|PRRS MESH:D019318|UMLS:C0376538 owl:Class MONDO:0005652 biolink:NamedThing Arterivirus infectious disease Infections caused by viruses of the family arteriviridae. tmpak2llvmy_mondo_relaxed.owl Arterivirus disease or disorder|Arterivirus caused disease or disorder MESH:D018174|UMLS:C0206604|EFO:0007152 owl:Class MONDO:0000411 biolink:NamedThing electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. tmpak2llvmy_mondo_relaxed.owl electro-clinical syndrome DOID:0050701 owl:Class MONDO:0044796 biolink:NamedThing spindle cell nevus A nevus characterized by the presence of spindle-shaped melanocytes. tmpak2llvmy_mondo_relaxed.owl spindle cell nevus NCIT:C66758|SCTID:253038006 owl:Class MONDO:0020664 biolink:NamedThing spindle cell neoplasm A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl spindle cell tumor|spindle cell neoplasm EFO:0000705|NCIT:C27263 owl:Class CHEBI:22314 biolink:NamedThing alkali metal atom tmpak2llvmy_mondo_relaxed.owl alkali metal|metaux alcalins|Alkalimetalle|metal alcalino|metal alcalin|alkali metals|metales alcalinos|Alkalimetall owl:Class MONDO:0006479 biolink:NamedThing undifferentiated pancreatic carcinoma with osteoclast-like giant cells A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. tmpak2llvmy_mondo_relaxed.owl pancreatic osteoclast-like giant cell carcinoma|osteoclast-like giant cell neoplasm of the pancreas|osteoclast-like giant cell neoplasm of pancreas|undifferentiated pancreatic carcinoma with osteoclast-like giant cells NCIT:C5723|DOID:7718|EFO:1000607|UMLS:C2007059 owl:Class MONDO:0006478 biolink:NamedThing undifferentiated pancreatic carcinoma A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells. tmpak2llvmy_mondo_relaxed.owl undifferentiated carcinoma of pancreas|pancreatic carcinosarcoma|undifferentiated (anaplastic) pancreatic carcinoma|pancreas undifferentiated carcinoma|UCP|undifferentiated pancreatic carcinoma|undifferentiated carcinoma of the pancreas|pleomorphic large cell pancreatic carcinoma|spindle cell pancreatic carcinoma|sarcomatoid pancreatic carcinoma NCIT:C5722|UMLS:C1336861|EFO:1000606|ONCOTREE:UCP owl:Class MONDO:0016780 biolink:NamedThing paternal 14q32.2 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl paternal del(14)(q32.2)|paternal monosomy 14q32.2 Orphanet:254525|ICD10:Q93.5|UMLS:CN202036 owl:Class MONDO:0004326 biolink:NamedThing sphenoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpak2llvmy_mondo_relaxed.owl inverted papilloma of sphenoid sinus|sphenoidal sinus inverted papilloma|inverted papilloma of the sphenoid sinus NCIT:C6841|DOID:7678|UMLS:C1336037 owl:Class MONDO:0600005 biolink:NamedThing venom allergy An allergic disease involving venom. tmpak2llvmy_mondo_relaxed.owl venom hypersensitivity|IgE-mediated venom hypersensitivity http://orcid.org/0000-0002-5460-8025 owl:Class HGNC:777 biolink:NamedThing ZFHX3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004905 biolink:NamedThing intestinal disaccharidase deficiency Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. tmpak2llvmy_mondo_relaxed.owl intestinal disaccharide deficiency and disaccharide malabsorption|intestinal disaccharidase deficiency and disaccharide malabsorption NCIT:C34731|SCTID:22169002|ICD9:271.3|EFO:1000060|DOID:9868 MONDO:0006062 owl:Class UBERON:0016426 biolink:NamedThing proximal interphalangeal joint of little finger tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000362 biolink:NamedThing epidermal cell An epithelial cell of the integument (the outer layer of an organism). tmpak2llvmy_mondo_relaxed.owl cell of epidermis|epithelial cell of skin CALOHA:TS-0283|BTO:0001470|FMA:62411 CL:1000396 cell owl:Class MONDO:0014792 biolink:NamedThing Paget disease of bone 6 tmpak2llvmy_mondo_relaxed.owl Paget disease of bone type 6|PDB6|Paget disease of bone 6|Paget disease of bone 6; PDB6 OMIM:616833|UMLS:C4085250 owl:Class HGNC:4823 biolink:NamedThing HBA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008694 biolink:NamedThing pseudoprogeria syndrome Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. tmpak2llvmy_mondo_relaxed.owl mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes-intellectual disability syndrome|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes with intellectual disability|eyebrows and eyelashes absence-intellectual disability syndrome|absent eyebrows and eyelashes with mental retardation|pseudoprogeria syndrome|Hal-Berg-Rudolph syndrome Orphanet:2985|UMLS:C0796125|ICD10:Q87.8|SCTID:733086003|OMIM:200130|GARD:0000415|MESH:C563111 https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome owl:Class NCBITaxon:7180 biolink:NamedThing Haemagogus tmpak2llvmy_mondo_relaxed.owl Haemagogus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1056966 biolink:NamedThing Aedini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001156 biolink:NamedThing borderline personality disorder A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. tmpak2llvmy_mondo_relaxed.owl borderline personality disorder (disease)|borderline personality disorder|BPD borderline personality disorder (disease) SCTID:20010003|ICD9:301.83|NCIT:C92633|ICD10:F60.3|MESH:D001883|DOID:10930|HP:0012076 owl:Class MONDO:0002028 biolink:NamedThing personality disorder A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. tmpak2llvmy_mondo_relaxed.owl character disorder|personality disorder|personality disorder (disease) personality disorder (disease) NCIT:C34922|HP:0012075|ICD9:301.8|SCTID:33449004|ICD9:301.9|DOID:1510|ICD9:301.89 owl:Class MONDO:0011836 biolink:NamedThing thyroid Hurthle cell carcinoma tmpak2llvmy_mondo_relaxed.owl follicular thyroid cancer, Hurthle cell type|thyroid cancer, follicular, Hurthle cell type|thyroid cancer, Hurthle cell|thyroid carcinoma, Hurthle cell|oncocytic carcinoma of the thyroid|Hurthle cell thyroid neoplasia|Hurthle cell thyroid cancer SCTID:423158009|ONCOTREE:THHC|OMIM:607464|DOID:8161|MESH:C536913|GARD:0009428 owl:Class MONDO:0016166 biolink:NamedThing genetic hyperparathyroidism Genetic hyperparathyroidism. tmpak2llvmy_mondo_relaxed.owl genetic hyperparathyroidism OMIMPS:145000|Orphanet:208596 owl:Class HGNC:16902 biolink:NamedThing BCKDK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017572 biolink:NamedThing tick-borne encephalitis Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. tmpak2llvmy_mondo_relaxed.owl Siberian tick-borne encephalitis|Far Eastern TBE|taiga encephalitis|Western European tick-borne encephalitis|west-Siberian encephalitis|Russian spring-summer encephalitis|central European encephalitis|Tick-borne viral encephalitis|TBE ICD10:A84.1|MESH:D004675|Orphanet:297|DOID:0050175|MedDRA:10043848|NCIT:C34579|ICD10:A84.0|UMLS:C0014061|ICD9:063.2|ICD10:A84.9|EFO:1001309|ICD10:A84.8|GARD:0005216 https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis owl:Class MONDO:0015517 biolink:NamedThing common variable immunodeficiency Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. tmpak2llvmy_mondo_relaxed.owl idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia|common variable hypogamma-globulinemia|acquired agammaglobulinemia|common variable immune deficiency|hypogamma-globulinemia, acquired|sporadic hypogammaglobulinemia|Immunoglobulin deficiency, late-onset|CVID|primary antibody deficiency|common variable agammaglobulinemia|secondary hypogammaglobulinemia|acquired hypogammaglobulinemia UMLS:C0009447|SCTID:23238000|MedDRA:10021449|ICD10:D83|NCIT:C26725|DOID:12177|Orphanet:1572|ICD10:D83.2|ICD10:D83.0|ICD10:D83.9|GARD:0006140|OMIMPS:607594|ICD10:D83.1|ICD9:279.06|ICD10:D83.8|MESH:D017074 owl:Class MONDO:0019215 biolink:NamedThing classic organic aciduria tmpak2llvmy_mondo_relaxed.owl Orphanet:79163 owl:Class MONDO:0008192 biolink:NamedThing paragangliomas 1 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. tmpak2llvmy_mondo_relaxed.owl paragangliomas 1|chemodectomas|carotid body tumors|paragangliomas, familial, 1|paragangliomas, familial nonchromaffin, 1|Paragangliomata|paraganglioma, carotid body|PGL1|paragangliomas type 1|SDHD paraganglioma|glomus tumors, familial, 1|paraganglioma caused by mutation in SDHD|glomus jugulare tumors|paragangliomas with sensorineural hearing loss OMIM:168000|GARD:0007324 owl:Class MONDO:0011358 biolink:NamedThing blue nevi, familial multiple tmpak2llvmy_mondo_relaxed.owl blue nevi, familial multiple UMLS:C1863617|MESH:C566346|OMIM:603670 owl:Class UBERON:0006074 biolink:NamedThing lumbar region of vertebral column Subdivision of vertebral column that corresponds to the lumbar subdivision of the body, containing the lumbar vertebrae. tmpak2llvmy_mondo_relaxed.owl lumbar vertebrae series|lumbar spine|lumbar vertebral column|lumbar skeleton|axial skeleton lumbar region owl:Class MONDO:0005650 biolink:NamedThing Arenaviridae infectious disease Virus diseases caused by the arenaviridae. tmpak2llvmy_mondo_relaxed.owl infection, arenavirus|Arenaviridae caused disease or disorder|infections, arenavirus|disease due to arenavirus|infection, Arenaviridae|Arenaviridae infection|infections, Arenaviridae|arenavirus infection|arenavirus infections|Arenaviridae disease or disorder|arenavirus infectious disease|disease caused by arenavirus SCTID:3303004|ICD9:078.89|MESH:D001117|EFO:0007150|DOID:3944 owl:Class MONDO:0010591 biolink:NamedThing fingerprint body myopathy Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. tmpak2llvmy_mondo_relaxed.owl fingerprint body myopathy ICD10:G71.2|MESH:C564425|Orphanet:97232|OMIM:305550|GARD:0012720|UMLS:C1844560 https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy owl:Class MONDO:0023149 biolink:NamedThing infection due to clostridium perfringens tmpak2llvmy_mondo_relaxed.owl C. perfringens infection|Infection, Clostridium perfringens|Infection caused by Clostridium perfringens|Infections, Clostridium perfringens|Clostridium perfringens Infection|Infection due to Clostridium perfringens|Clostridium perfringens Infections|Clostridium perfringens infection SCTID:65154009|UMLS:C0275619|GARD:0011970 owl:Class HGNC:15840 biolink:NamedThing KMT2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008388 biolink:NamedThing ringed hair disease Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. tmpak2llvmy_mondo_relaxed.owl ringed hair|pili annulati ICD10:Q84.1|MESH:C537187|Orphanet:169|SCTID:21926007|GARD:0004359|UMLS:C0263489|OMIM:180600 owl:Class HGNC:11195 biolink:NamedThing SOX2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006099 biolink:NamedThing tricarboxylic acid cycle A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. tmpak2llvmy_mondo_relaxed.owl Krebs cycle|TCA cycle|citric acid cycle owl:Class GO:0001977 biolink:NamedThing renal system process involved in regulation of blood volume A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. tmpak2llvmy_mondo_relaxed.owl renal regulation of blood volume|renal blood volume control of blood pressure owl:Class MONDO:0001702 biolink:NamedThing labia majora carcinoma A carcinoma that arises from the labia majora. tmpak2llvmy_mondo_relaxed.owl carcinoma of the labia majora|carcinoma of labia majora|labium majora carcinoma|carcinoma of labium majora|labia majora carcinoma|labia majora cancer DOID:13389|NCIT:C9363|UMLS:C1334356 owl:Class HGNC:2198 biolink:NamedThing COL1A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010529 biolink:NamedThing X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. tmpak2llvmy_mondo_relaxed.owl X-linked ataxia-deafness syndrome|SCAX3|spinocerebellar ataxia, X-linked type 3|Scax3|ataxia-deafness syndrome X-linked|ataxia-deafness syndrome, X-linked|spinocerebellar ataxia, X-linked 3|spinocerebellar ataxia X-linked type 3 OMIM:301790|UMLS:C1844936|GARD:0009981|ICD10:G11.1|MESH:C537315|Orphanet:85297|SCTID:719817002 https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 owl:Class MONDO:0018225 biolink:NamedThing ALK-positive large B-cell lymphoma Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. tmpak2llvmy_mondo_relaxed.owl ALK-positive large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length ALK|ALK-DLBCL|ALK+ large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|ALK+ LBCL Orphanet:364043|SCTID:715950008|ICDO:9737/3|NCIT:C7225|UMLS:C1333294|ICD10:C83.3 owl:Class MONDO:0016294 biolink:NamedThing Hirschsprung disease-type D brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease with type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly|Hirschsprung disease with type D brachydactyly|Hirschsprung disease type d brachydactyly MESH:C538319|UMLS:C1844017|OMIM:306980|GARD:0002700|Orphanet:2150|ICD10:Q43.1 owl:Class MONDO:0005598 biolink:NamedThing dopaminergic neuroblastoma A neuroblastoma associated with increased dopamine excretion. tmpak2llvmy_mondo_relaxed.owl EFO:0006391|PMID:3385588 owl:Class IAO:8000012 biolink:NamedThing species subset ontology module A subset ontology that is crafted to either include or exclude a taxonomic grouping of species. tmpak2llvmy_mondo_relaxed.owl taxon subset species subset ontology module owl:Class MONDO:0017934 biolink:NamedThing aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. tmpak2llvmy_mondo_relaxed.owl aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome UMLS:CN204076|Orphanet:324540|ICD10:Q87.0 owl:Class MONDO:0001112 biolink:NamedThing bubonic plague A plague in which the bacteria have infected the lymphatic system. tmpak2llvmy_mondo_relaxed.owl black death ICD9:020.0|DOID:10773|ICD10:A20.0|GARD:0000183|UMLS:C0282312|SCTID:50797007 https://rarediseases.info.nih.gov/diseases/183/bubonic-plague owl:Class MONDO:0014296 biolink:NamedThing Warburg micro syndrome 4 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. tmpak2llvmy_mondo_relaxed.owl WARBM4|Warburg micro syndrome type 4|Warburg micro syndrome 4|Warburg micro syndrome caused by mutation in TBC1D20|WARBURG micro syndrome 4|micro syndrome 4|TBC1D20 Warburg micro syndrome UMLS:C3810265|ICD10:Q87.0|DOID:0110719|OMIM:615663 owl:Class MONDO:0016649 biolink:NamedThing Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. tmpak2llvmy_mondo_relaxed.owl microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|micro syndrome|WARBM|Warburg micro syndrome|Warburg-Sjo-Fledelius syndrome GARD:0005534|Orphanet:2510|DOID:0060237|UMLS:CN158709|ICD10:Q87.0|OMIMPS:600118 owl:Class UBERON:0003335 biolink:NamedThing serosa of colon A serous membrane that is part of a colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl colonic serosa|colon serous membrane|serosa of large bowel|visceral peritoneum of colon|serous membrane of large bowel|large bowel serosa|colon serosa|serous membrane of colon|large bowel serous membrane owl:Class MONDO:0004848 biolink:NamedThing ulcerative stomatitis Inflammation of the mouth mucosa associated with the presence of ulcers. tmpak2llvmy_mondo_relaxed.owl ulcerative stomatitis ICD10:K12.1|ICD9:528.00|NCIT:C35039|UMLS:C0038367|SCTID:450005|DOID:9673 owl:Class MONDO:0020604 biolink:NamedThing X-linked dominant disease X-linked dominant form of disease. tmpak2llvmy_mondo_relaxed.owl DOID:0080009 owl:Class NCBITaxon:7586 biolink:NamedThing Echinodermata tmpak2llvmy_mondo_relaxed.owl echinoderms GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33511 biolink:NamedThing Deuterostomia tmpak2llvmy_mondo_relaxed.owl deuterostomes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015330 biolink:NamedThing overgrowth/obesity syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN199360|Orphanet:139024 owl:Class PR:000001444 biolink:NamedThing cadherin-5 tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001327 biolink:NamedThing cadherin tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012819 biolink:NamedThing diabetic ketoacidosis The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, ketosis-prone|ketosis-prone diabetes mellitus|KPD ICD9:250.10|SCTID:420422005|ICD9:250.1|MedDRA:10012671|OMIM:612227|MESH:D016883|UMLS:C0011880|DOID:1837|EFO:1000897 owl:Class UBERON:0010222 biolink:NamedThing anatomical line between pupils tmpak2llvmy_mondo_relaxed.owl inter-pupillary line|interpupillary line owl:Class UBERON:0006800 biolink:NamedThing anatomical line Non-material anatomical entity of one dimension, which forms a boundary of an anatomical surface or is a modulation of an anatomical surface. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000015 biolink:NamedThing male germ cell Male germ cell is a germ cell that supports male gamete production. tmpak2llvmy_mondo_relaxed.owl FMA:72290|VHOG:0001531|ncithesaurus:Spermatogenic_Cell|MA:0002765 cell owl:Class GO:2000082 biolink:NamedThing regulation of L-ascorbic acid biosynthetic process Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of ascorbate biosynthesis|regulation of vitamin C biosynthesis|regulation of L-ascorbic acid formation|regulation of L-ascorbic acid biosynthesis|regulation of L-ascorbic acid anabolism|regulation of L-ascorbic acid synthesis|regulation of ascorbate biosynthetic process|regulation of vitamin C biosynthetic process owl:Class MONDO:0011054 biolink:NamedThing autosomal recessive amelia Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. tmpak2llvmy_mondo_relaxed.owl amelia, autosomal recessive Orphanet:1027|OMIM:601360|SCTID:726735000|MESH:C563338|UMLS:C1832432|ICD10:Q73.0 owl:Class MONDO:0004006 biolink:NamedThing rete ovarii cystadenofibroma An exceptionally rare cystadenofibroma that arises from the rete ovarii. tmpak2llvmy_mondo_relaxed.owl cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma DOID:6838|NCIT:C40020|UMLS:C1514906 owl:Class MONDO:0003192 biolink:NamedThing rete ovarii neoplasm A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl neoplasm of rete ovarii|rete ovarii neoplasm (disease)|tumor of rete ovarii|rete ovarii tumor UMLS:C1514909|DOID:4895|NCIT:C40016 owl:Class MONDO:0040671 biolink:NamedThing class V glucose-6-phosphate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl glucose-6-phosphate dehydrogenase deficiency class V variant anemia|G6PD class V variant anemia SCTID:80963002|UMLS:C0272060 Editor note: TODO, see PMID:2633878 owl:Class MONDO:0008537 biolink:NamedThing telecanthus tmpak2llvmy_mondo_relaxed.owl telecanthus Orphanet:98575|OMIM:187350|MESH:C562941|ICD10:Q10.3 owl:Class MONDO:0043723 biolink:NamedThing Monteggia's fracture Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. tmpak2llvmy_mondo_relaxed.owl Monteggia fracture|monteggia's dislocation|monteggia fracture|fracture, Monteggia's|Monteggias fracture|monteggia fracture dislocation|monteggia's fracture EFO:1001373|MESH:D009011|SCTID:123973009 owl:Class UBERON:0000409 biolink:NamedThing serous gland A gland in which the principal secretory cells are serous secreting cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019042 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome tmpak2llvmy_mondo_relaxed.owl MCAHS Orphanet:68341 owl:Class MONDO:0021783 biolink:NamedThing streptococcal sore throat Inflammation of the throat due to Streptococcus pyogenes. tmpak2llvmy_mondo_relaxed.owl Streptococcal pharyngitis|Septic sore throat|streptococcal pharyngitis|Streptococcal Pharyngitis|Streptococcal angina|strep throat|Streptococcal sore throat|Strept throat|Strep throat SCTID:43878008|NCIT:C116003|EFO:1002024|ICD9:034.0|UMLS:C0036689 owl:Class MONDO:0011907 biolink:NamedThing acrocapitofemoral dysplasia Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. tmpak2llvmy_mondo_relaxed.owl ACFD|acrocapitofemoral dysplasia UMLS:C1843096|Orphanet:63446|MESH:C564334|SCTID:720416007|GARD:0010605|OMIM:607778|DOID:0050604|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia owl:Class MONDO:0009238 biolink:NamedThing hereditary folate malabsorption Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. tmpak2llvmy_mondo_relaxed.owl congenital folate malabsorption|folic acid transport defect|folate malabsorption, hereditary|congenital defect of folate absorption OMIM:229050|SCTID:62578003|ICD10:D52.8|MESH:C562799|DOID:0111678|UMLS:C0342705|Orphanet:90045|GARD:0012983 https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption owl:Class MONDO:0010129 biolink:NamedThing thymic-renal-anal-lung dysplasia This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. tmpak2llvmy_mondo_relaxed.owl syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia UMLS:C1848812|SCTID:723555007|Orphanet:3326|ICD10:Q87.8|GARD:0005202|OMIM:274265|MESH:C536907 https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia owl:Class MONDO:0016185 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 2 tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 2 Orphanet:209033 owl:Class MONDO:0009921 biolink:NamedThing holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. tmpak2llvmy_mondo_relaxed.owl Young-Maders syndrome|holoprosencephaly-polydactyly syndrome|PSEUDOTRISOMY 13 syndrome|pseudo-trisomy 13 syndrome|pseudo trisomy 13 syndrome|holoprosencephaly polydactyly syndrome MESH:C535829|Orphanet:2166|SCTID:716091000|ICD10:Q87.8|NCIT:C125418|UMLS:C1849649|OMIM:264480|GARD:0000344 owl:Class MONDO:0012215 biolink:NamedThing myofibrillar myopathy 3 Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, proximal, type 1A|myopathy, myofibrillar, myotilin-related|autosomal dominant limb-girdle muscular dystrophy type 1A|myopathy, myofibrillar, 3|myofibrillar myopathy type 3|autosomal dominant distal myopathy caused by mutation in MYOT|LGMD1A|MFM3|MYOT autosomal dominant distal myopathy|myotilinopathy|muscular dystrophy, limb-girdle, type 1A|distal myotilinopathy|muscular dystrophy limb-girdle type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|proximal muscular dystrophy type 1A|LGMD1|limb-girdle muscular dystrophy type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|myopathy, myofibrillar, type 3 ICD10:G71.8|Orphanet:266|Orphanet:98911|SCTID:719985001|DOID:0080094|UMLS:C1836607|MESH:C563775|GARD:0010229|OMIM:609200|OMIM:159000|DOID:0110300|ICD10:G71.0|UMLS:C1834659|MESH:C535906|SCTID:765196004 https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a owl:Class MONDO:0016201 biolink:NamedThing qualitative or quantitative defects of myotilin tmpak2llvmy_mondo_relaxed.owl Orphanet:209224 owl:Class MONDO:0015635 biolink:NamedThing porokeratotic eccrine ostial and dermal duct nevus A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. tmpak2llvmy_mondo_relaxed.owl comedo nevus of the palm|Porokeratotic eccrine duct and hair follicle Nevus|Porokeratotic eccrine nevus|linear eccrine Nevus with comedones SCTID:239118007|Orphanet:166286|ICD10:Q82.5|NCIT:C4740|UMLS:C0473579 owl:Class MONDO:0060611 biolink:NamedThing combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|CIMAH|methylenetetrahydrofolate dehydrogenase 1 deficiency UMLS:C4540434|OMIM:617780 owl:Class MONDO:0015387 biolink:NamedThing nasolacrimal duct cyst Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. tmpak2llvmy_mondo_relaxed.owl nasolacrimal mucocele|dacryocele|dacryocystocele Orphanet:141083|ICD10:H04.6 owl:Class GO:0006695 biolink:NamedThing cholesterol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpak2llvmy_mondo_relaxed.owl cholesterol anabolism|cholesterol formation|cholesterol synthesis|cholesterol biosynthesis owl:Class GO:1902653 biolink:NamedThing secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of secondary alcohol. tmpak2llvmy_mondo_relaxed.owl secondary alcohol anabolism|secondary alcohol biosynthesis|secondary alcohol formation|secondary alcohol synthesis owl:Class HP:0002334 biolink:NamedThing Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cerebellar vermis UMLS:C4025712 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. human_phenotype owl:Class MONDO:0018028 biolink:NamedThing tetrasomy 5p Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). tmpak2llvmy_mondo_relaxed.owl tetrasomy type 5p|Isochromosome 5p SCTID:766755003|ICD10:Q99.8|Orphanet:3309 owl:Class MONDO:0016942 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial trisomy/tetrasomy of the short arm of chromosome type 5|partial trisomy/tetrasomy of chromosome 5p|partial duplication/triplication of the short arm of chromosome 5|partial duplication/triplication of chromosome 5p Orphanet:262725 owl:Class MONDO:0014089 biolink:NamedThing corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome tmpak2llvmy_mondo_relaxed.owl corneal intraepithelial dyskeratosis and ectodermal dysplasia|CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|MSPC|palmoplantar carcinoma, multiple self-healing|palmoplantar carcinoma, multiple self-healing; MSPC UMLS:CN204511|UMLS:C3808876|OMIM:616964|OMIM:615225|ICD10:Q82.8|Orphanet:352662 owl:Class GO:0046878 biolink:NamedThing positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva. tmpak2llvmy_mondo_relaxed.owl stimulation of saliva secretion|upregulation of saliva secretion|up regulation of saliva secretion|up-regulation of saliva secretion|activation of saliva secretion owl:Class GO:0060456 biolink:NamedThing positive regulation of digestive system process Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001275 biolink:NamedThing solid layer A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007898 biolink:NamedThing leukocyte nuclear appendages, hereditary prevalence of tmpak2llvmy_mondo_relaxed.owl leukocyte nuclear appendages, hereditary prevalence of OMIM:151500|UMLS:C1835405|MESH:C563626 owl:Class MONDO:0044705 biolink:NamedThing paranasal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the paranasal sinus|squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of paranasal sinus|squamous cell carcinoma of the nasal cavity and paranasal sinuses|epidermoid carcinoma of paranasal sinus|paranasal sinus epidermoid carcinoma|squamous cell carcinoma of the nasal cavity and sinuses|paranasal sinus squamous cell carcinoma Orphanet:500464|NCIT:C8193|UMLS:C0280334 owl:Class MONDO:0004955 biolink:NamedThing metabolic syndrome A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose. tmpak2llvmy_mondo_relaxed.owl metabolic syndrome X|metabolic syndrome NCIT:C84442|ICD10:E88.81|ICD9:277.7|EFO:0000195 owl:Class UBERON:0003332 biolink:NamedThing submucosa of duodenum A submucosa that is part of a duodenum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl duodenum submucosa|doudenal submucosa|duodenal submucosa owl:Class MONDO:0021289 biolink:NamedThing carcinoma in situ of cecum A in situ carcinoma that involves the caecum. tmpak2llvmy_mondo_relaxed.owl stage 0 cecum carcinoma|caecum in situ carcinoma|stage 0 caecum carcinoma|carcinoma in situ of caecum|cecum carcinoma in situ aJCC v7|caecum carcinoma in situ|cecum carcinoma in situ|carcinoma in situ of the cecum|cecum carcinoma in situ aJCC v6 UMLS:C0347126|NCIT:C4594|SCTID:92559007 owl:Class MONDO:0006643 biolink:NamedThing alcoholic cardiomyopathy A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy secondary to alcohol|alcoholic cardiomyopathy|alcohol-induced heart muscle disease UMLS:C0007192|ICD9:425.5|ICD10:I42.6|EFO:1000801|MedDRA:10001616|SCTID:83521008|NCIT:C53653|MESH:D002310|DOID:12935 owl:Class MONDO:0021699 biolink:NamedThing alcohol-induced disorders Disorders stemming from the misuse and abuse of alcohol. tmpak2llvmy_mondo_relaxed.owl alcohol induced disorders|alcohol-induced disorder UMLS:C0236970|SCTID:719848005|MESH:D020751 owl:Class MONDO:0006035 biolink:NamedThing gastric tubular adenocarcinoma A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. tmpak2llvmy_mondo_relaxed.owl gastric tubular adenocarcinoma|tubular adenocarcinoma of stomach|tubular stomach adenocarcinoma|tubular adenocarcinoma of the stomach|stomach tubular adenocarcinoma ONCOTREE:TSTAD|NCIT:C5473|UMLS:C1333791|EFO:1000030|DOID:6595 owl:Class NCBITaxon:55824 biolink:NamedThing Hirudinea tmpak2llvmy_mondo_relaxed.owl leeches GC_ID:1 NCBITaxon:6403 ncbi_taxonomy owl:Class NCBITaxon:42113 biolink:NamedThing Clitellata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010847 biolink:NamedThing ulna pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a ulna. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:59140 biolink:NamedThing Myzomyia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010226 biolink:NamedThing 46,XY sex reversal 2 tmpak2llvmy_mondo_relaxed.owl 46,XY Sex reversal, Dax1-related|46,XY sex reversal 2|SRXY2|46,XY SEX reversal 2|dosage-sensitive Sex reversal|46,XY Sex reversal type 2 MESH:C535601|DOID:0111777|UMLS:C1848296|OMIM:300018 owl:Class GO:0002312 biolink:NamedThing B cell activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpak2llvmy_mondo_relaxed.owl B cell activation during immune response|B-lymphocyte activation during immune response|B-cell activation during immune response|B lymphocyte activation during immune response owl:Class MONDO:0000763 biolink:NamedThing epithelial and subepithelial corneal dystrophy tmpak2llvmy_mondo_relaxed.owl epithelial and subepithelial dystrophy DOID:0060440 owl:Class CL:0000439 biolink:NamedThing prolactin secreting cell A peptide hormone cell that secretes prolactin. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0009081 biolink:NamedThing deafness, congenital, with total albinism tmpak2llvmy_mondo_relaxed.owl deafness, congenital, with total albinism OMIM:220900|UMLS:C1857343|MESH:C565646 owl:Class MONDO:0011901 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. tmpak2llvmy_mondo_relaxed.owl axonal Charcot-Marie-Tooth disease with pyramidal involvement|AR-CMT2C|Charcot-Marie-Tooth disease, axonal, type 2H|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|Charcot Marie Tooth disease type 2H|CMT 2H|CMT2H|Charcot-Marie-Tooth disease type 2H|autosomal recessive axonal CMT4C2 Orphanet:101102|MESH:C535415|DOID:0110166|ICD10:G60.0|UMLS:C1843173|GARD:0009196|SCTID:720637005|OMIM:607731 Not in the OMIM series. owl:Class MONDO:0004461 biolink:NamedThing vaginal tubulovillous adenoma An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. tmpak2llvmy_mondo_relaxed.owl vaginal tubulovillous adenoma DOID:8104|UMLS:C1519933|NCIT:C40258 owl:Class MONDO:0003434 biolink:NamedThing vaginal adenoma A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. tmpak2llvmy_mondo_relaxed.owl vagina adenoma|vaginal adenoma NCIT:C40256|DOID:5402|UMLS:C1519913 owl:Class UBERON:0003432 biolink:NamedThing chest nerve A nerve that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anterolateral part of thorax nerve|nerve of anterolateral part of thorax|nerve of chest|anterior thoracic region nerve|nerve of front of thorax|front of thorax nerve|nerve of anterior thoracic region owl:Class MONDO:0004463 biolink:NamedThing cellular phase chronic idiopathic myelofibrosis Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. tmpak2llvmy_mondo_relaxed.owl primary myelofibrosis, Prefibrotic/early stage|chronic idiopathic myelofibrosis, cellular phase|Prefibrotic/Early Primary myelofibrosis|primary myelofibrosis, Prefibrotic stage|chronic idiopathic myelofibrosis, Prefibrotic stage|PMFPES UMLS:C1516553|ONCOTREE:PMFPES|DOID:8106|NCIT:C41237 owl:Class MONDO:0001805 biolink:NamedThing female breast central part cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of central portion of female breast|malignant neoplasm of central part of female breast DOID:13799|ICD9:174.1|UMLS:C0153549|SCTID:188151006|ICD10:C50.11 owl:Class UBERON:0015172 biolink:NamedThing endometrial blood vessel A blood vessel that is part of a endometrium. tmpak2llvmy_mondo_relaxed.owl blood vessel of endometrium owl:Class MONDO:0002345 biolink:NamedThing cervicitis An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. tmpak2llvmy_mondo_relaxed.owl cervicitis|cervicitis (disease) cervicitis (disease) HP:0030160|MESH:D002575|DOID:2568|ICD9:616.0|ICD10:N72|NCIT:C26716|SCTID:37610005 owl:Class MONDO:0003398 biolink:NamedThing anterograde amnesia Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71) tmpak2llvmy_mondo_relaxed.owl ICD10:R41.1|MESH:D020324|DOID:5340 owl:Class MONDO:0001152 biolink:NamedThing amnestic disorder Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. tmpak2llvmy_mondo_relaxed.owl amnesia|amnesic syndrome|Korsakoff's psychosis or syndrome|amnestic syndrome EFO:1001454|ICD10:R41.3|SCTID:3298001|ICD9:294.0|DOID:10914 owl:Class MONDO:0013744 biolink:NamedThing cataract 37 A cataract that has material basis in variation in the region 12q24.2-q24.3. tmpak2llvmy_mondo_relaxed.owl cataract, congenital, cerulean type, 5|CCA5|CTRCT37|cataract type 37|cataract 37|congenital cataract cerulean type 5 UMLS:C3280758|OMIM:614422|DOID:0110252|ICD10:Q12.0 owl:Class MONDO:0020374 biolink:NamedThing cerulean cataract Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. tmpak2llvmy_mondo_relaxed.owl cataract, congenital, cerulean type 1|cataract, congenital, blue dot type 1|blue-dot cataract Orphanet:98989|SCTID:204138006|ICD9:743.39|GARD:0009508|ICD10:Q12.0|MESH:C537955 owl:Class UBERON:0018255 biolink:NamedThing jejunal artery A branch of the superior mesenteric artery that supplies the jejunum. tmpak2llvmy_mondo_relaxed.owl jejunal branch of superior mesenteric artery owl:Class MONDO:0011781 biolink:NamedThing spinocerebellar ataxia type 17 Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. tmpak2llvmy_mondo_relaxed.owl SCA17|SCA 17|HDL4|Huntington disease-like 4|spinocerebellar ataxia type 17|spinocerebellar ataxia 17 UMLS:C1846707|MESH:C564616|GARD:0010469|Orphanet:98759|SCTID:719249005|ICD10:G11.8|OMIM:607136|DOID:0050967 owl:Class MONDO:0008042 biolink:NamedThing myoclonus and ataxia tmpak2llvmy_mondo_relaxed.owl myoclonus and ataxia|dyssynergia cerebellaris progressiva|Ramsay Hunt syndrome type 1 (formerly)|dentatorubral atrophy|primary dentatum atrophy|Ramsay Hunt syndrome type 1|Ramsay Hunt syndrome|dyssynergia cerebellaris myoclonica|progressive myoclonus ataxia|dentate cerebellar ataxia GARD:0009256|OMIM:159700|UMLS:C1834580 Editor note: consider merging into MONDO:0008945 owl:Class HP:0011452 biolink:NamedThing Functional abnormality of the middle ear An abnormality of the function of the middle ear. tmpak2llvmy_mondo_relaxed.owl Functional abnormality of the middle ear UMLS:C4021846 The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. peter 2012-03-19T09:33:03Z human_phenotype owl:Class HP:0000370 biolink:NamedThing Abnormality of the middle ear An abnormality of the middle ear. tmpak2llvmy_mondo_relaxed.owl Middle ear abnormalities|Middle ear abnormality UMLS:C1861141 human_phenotype owl:Class MONDO:0004936 biolink:NamedThing uterine inversion A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage. tmpak2llvmy_mondo_relaxed.owl ICD10:N85.5|SCTID:27215002|EFO:1001446|MESH:D019687|DOID:997|ICD9:665.2 owl:Class MONDO:0007366 biolink:NamedThing seizures, benign familial neonatal, 2 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene. tmpak2llvmy_mondo_relaxed.owl seizures, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|convulsions, benign familial neonatal, 2|seizures, benign familial neonatal, type 2|benign neonatal seizures caused by mutation in KCNQ3|BFNS2 OMIM:121201|UMLS:C1852581 owl:Class HP:0011793 biolink:NamedThing Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023185 peter 2012-04-22T07:00:13Z human_phenotype owl:Class HP:0002664 biolink:NamedThing Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). tmpak2llvmy_mondo_relaxed.owl Oncological abnormality|Oncology|Cancer|Abnormal tissue mass|Neoplasia|Tumor|Tumour SNOMEDCT_US:363346000|SNOMEDCT_US:108369006|UMLS:C0006826|MSH:D009369|NCIT:C3262|UMLS:C0027651 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. HP:0003008|HP:0006741 human_phenotype owl:Class MONDO:0100039 biolink:NamedThing CDKL5 disorder A monogenic disease that has material basis in mutation in the CDKL5 gene. tmpak2llvmy_mondo_relaxed.owl CDKL5 disorder|CDKL5|CDKL5 inherited genetic disease|CDKL5-related disorder|inherited genetic disease caused by mutation in CDKL5 2018-06-29 18:32:48+00:00 GARD:0012173 Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. https://github.com/monarch-initiative/mondo/issues/202 owl:Class UBERON:0013159 biolink:NamedThing epithalamus mantle layer tmpak2llvmy_mondo_relaxed.owl mantle layer epithalamus|mantle layer of epithalamus owl:Class CHEBI:33822 biolink:NamedThing organic hydroxy compound An organic compound having at least one hydroxy group attached to a carbon atom. tmpak2llvmy_mondo_relaxed.owl organic alcohol|hydroxy compounds|organic hydroxy compounds owl:Class MONDO:0004699 biolink:NamedThing gastrointestinal lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. tmpak2llvmy_mondo_relaxed.owl gastrointestinal lymphoma|primary digestive system lymphoma|lymphoma of digestive system|primary gastrointestinal lymphoma|digestive system lymphoma NCIT:C38162|UMLS:C0740372|SCTID:449072004|DOID:903|ICD9:202.80 owl:Class CHEBI:76969 biolink:NamedThing bacterial metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C52005 biolink:NamedThing Enterostomy tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C15330 biolink:NamedThing Digestive System Surgery tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024346 biolink:NamedThing pityriasis amiantacea tmpak2llvmy_mondo_relaxed.owl tinea amiantacea|pityriasis amiantacea ICD9:696.5|UMLS:C0343100|SCTID:238924007 owl:Class MONDO:0003706 biolink:NamedThing adult brainstem astrocytoma tmpak2llvmy_mondo_relaxed.owl adult brainstem astrocytoma|adult brain stem astrocytoma DOID:5922|NCIT:C6954|UMLS:C1332191 owl:Class MONDO:0100430 biolink:NamedThing fibrotic liver disease A liver disease characterized by the presence of excessive fibrous connective tissue in the liver. tmpak2llvmy_mondo_relaxed.owl liver fibrosis (disease)|hepatic fibrosis (disease) http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:25362 biolink:NamedThing elemental molecule A molecule all atoms of which have the same atomic number. tmpak2llvmy_mondo_relaxed.owl homoatomic molecule|homoatomic molecules owl:Class CL:1001433 biolink:NamedThing epithelial cell of exocrine pancreas An epithelial cell of the exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl exocrine pancreas cell FMA:70986 cell owl:Class HGNC:19317 biolink:NamedThing P3H2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045618 biolink:NamedThing positive regulation of keratinocyte differentiation Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|upregulation of keratinocyte differentiation|activation of keratinocyte differentiation owl:Class MONDO:0010524 biolink:NamedThing X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl anemia, Sex-linked hypochromic Siderobla|X-linked sideroblastic anemia with spinocerebellar ataxia|anemia, sideroblastic, and spinocerebellar ataxia|XLSA-A|X-linked sideroblastic anemia and ataxia|anemia sideroblastic and spinocerebellar ataxia|Xlsa-A|Pagon Bird Detter syndrome|X-linked sideroblastic anemia and spinocerebellar ataxia|ASAT|X-linked sideroblastic Anemia and ataxia|Pagon-Bird-Detter syndrome|sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia with ataxia Orphanet:2802|GARD:0000668|DOID:0050554|UMLS:C4304338|OMIM:301310|UMLS:C1845028|ICD10:D64.0|MESH:C536358|SCTID:719816006|DOID:0060064 owl:Class MONDO:0006620 biolink:NamedThing vulva fibroepithelial polyp A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. tmpak2llvmy_mondo_relaxed.owl fibroepithelial polyp of the vulva|fibroepithelial polyp of vulva|vulvar fibroepithelial stromal polyp|mammalian vulva skin tag|skin tag of mammalian vulva|vulvar fibroepithelial polyp|vulval fibroepithelial polyp DOID:8255|NCIT:C6857|EFO:1000777|UMLS:C1336978 owl:Class MONDO:0002856 biolink:NamedThing gallbladder rhabdomyosarcoma A rhabdomyosarcoma that is located in the gallbladder. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of the gallbladder|rhabdomyosarcoma of gallbladder|gall bladder rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma|gallbladder rhabdomyosarcoma UMLS:C1333756|DOID:4057|NCIT:C5839 owl:Class NCBITaxon:5593 biolink:NamedThing Microascaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:34396 ncbi_taxonomy owl:Class NCBITaxon:5592 biolink:NamedThing Microascales tmpak2llvmy_mondo_relaxed.owl Plectomycetes GC_ID:1 NCBITaxon:45490 ncbi_taxonomy owl:Class HP:0000233 biolink:NamedThing Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). tmpak2llvmy_mondo_relaxed.owl Thin vermillion|Decreased volume of lip|Thin lips|Thin vermilion borders|Decreased volume of lip vermillion SNOMEDCT_US:301348000|UMLS:C0578038 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000213 human_phenotype owl:Class HP:0000159 biolink:NamedThing Abnormal lip morphology An abnormality of the lip. tmpak2llvmy_mondo_relaxed.owl Malformation of lip|Lip abnormality|Abnormality of the lip|Abnormal lip|Anomaly of lip|Deformity of lip UMLS:C2183966 human_phenotype owl:Class MONDO:0012486 biolink:NamedThing preauricular tag, isolated, autosomal dominant, 1 tmpak2llvmy_mondo_relaxed.owl preauricular tag, isolated, autosomal dominant, 1|preauricular Tag, isolated, autosomal dominant, type 1 UMLS:C1968893|MESH:C566904|OMIM:610420 owl:Class MONDO:0010600 biolink:NamedThing granulomatous disease, chronic, X-linked tmpak2llvmy_mondo_relaxed.owl cytochrome B-positive granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked, variant|CGD|CDGX|granulomatous disease, chronic, X-linked|chronic granulomatous disease, atypical|chronic granulomatous disease, X-linked|cytochrome B-negative granulomatous disease, chronic, X-linked OMIM:306400|DOID:0070195 owl:Class ENVO:01000216 biolink:NamedThing montane shrubland biome A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001836 biolink:NamedThing montane biome A biome which is subject to montane altitudinal conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006541 biolink:NamedThing epidermolysis bullosa Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. tmpak2llvmy_mondo_relaxed.owl acantholysis bullosa|epidermolysis bullosa|EB SCTID:61003004|ICD9:757.39|GARD:0006359|MESH:D004820|EFO:1000690|ICD10:Q81.9|NCIT:C67383|DOID:2730|ICD10:Q81|Wikipedia:Epidermolysis_bullosa https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa owl:Class MONDO:0013423 biolink:NamedThing immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. tmpak2llvmy_mondo_relaxed.owl immunodeficiency due to MASP-2 deficiency|lectin complement activation pathway, defect in, 2|MASP2 deficiency Orphanet:331187|MESH:C565360|OMIM:613791|ICD10:D84.1|UMLS:C3151085 owl:Class MONDO:0044209 biolink:NamedThing disorder of lectin complement activation pathway A disease that has its basis in the disruption of complement activation, lectin pathway. tmpak2llvmy_mondo_relaxed.owl disorder of complement activation, lectin pathway|complement activation, lectin pathway disease OMIMPS:614372 owl:Class MONDO:0014012 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|CMT2Q|DHTKD1 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease type 2Q GARD:0012446|DOID:0110170|Orphanet:329258|UMLS:C3554366|ICD10:G60.0|OMIM:615025 owl:Class MONDO:0014654 biolink:NamedThing Ullrich congenital muscular dystrophy 2 Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene. tmpak2llvmy_mondo_relaxed.owl Ullrich congenital muscular dystrophy type 2|UCMD2|COL12A1 Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy caused by mutation in COL12A1 OMIM:616470|UMLS:C4225314 owl:Class MONDO:0000355 biolink:NamedThing Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy, Ullrich type|UCMD|Ullrich disease|Ullrich scleroatonic muscular dystrophy|scleroatonic Ullrich disease|scleroatonic muscular dystrophy|late onset scleroatonic familial myopathy (subtype) NCIT:C123438|Orphanet:75840|UMLS:C0410179|MESH:C537521|GARD:0004769|OMIMPS:254090|SCTID:240062007|DOID:0050558|ICD10:G71.2 owl:Class MONDO:0009170 biolink:NamedThing endocardial fibroelastosis and coarctation of abdominal aorta tmpak2llvmy_mondo_relaxed.owl endocardial fibroelastosis and coarctation of abdominal aorta OMIM:226100|MESH:C565592|UMLS:C1856971 owl:Class HGNC:2961 biolink:NamedThing DYNC1H1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012624 biolink:NamedThing acyl-CoA dehydrogenase 9 deficiency Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl Acad9 deficiency|mitochondrial complex I deficiency due to ACAD9 deficiency|ACAD9 deficiency|acyl-CoA dehydrogenase 9 deficiency|mitochondrial Complex 1 deficiency due to Acad9 deficiency SCTID:725046003|UMLS:C1970173|ICD10:E71.3|OMIM:611126|Orphanet:99901|MESH:C567006 owl:Class MONDO:0014033 biolink:NamedThing dystonia 25 Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia. tmpak2llvmy_mondo_relaxed.owl DYT25|dystonia 25|autosomal dominant focal dystonia, DYT25 type|dystonic disorder caused by mutation in GNAL|GNAL dystonic disorder|dystonia type 25 Orphanet:329466|OMIM:615073|DOID:0090055|UMLS:C3554447|ICD10:G24.1 owl:Class MONDO:0019807 biolink:NamedThing mesocardia tmpak2llvmy_mondo_relaxed.owl Midline heart|mesocardia|mesocardia (disease) mesocardia (disease) ICD10:Q24.8|SCTID:16567006|ICD9:746.87|HP:0011599|Orphanet:95443 owl:Class MONDO:0020284 biolink:NamedThing heart position anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98716 owl:Class MONDO:0016827 biolink:NamedThing myopathy-growth delay-intellectual disability-hypospadias syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN230273|Orphanet:2601|ICD10:G71.8 owl:Class CL:1000436 biolink:NamedThing epithelial cell of lacrimal sac An epithelial cell that is part of the lacrimal sac. tmpak2llvmy_mondo_relaxed.owl FMA:70560 cell owl:Class UBERON:0003071 biolink:NamedThing eye primordium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. tmpak2llvmy_mondo_relaxed.owl eye anlage|optic placode|optic placode of camera-type eye|optic field|occular primordium|eye field|eye placode|optic primordium|optic placodes|ocular primordium owl:Class MONDO:0025155 biolink:NamedThing hemorrhagic syndrome, bovine Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality. tmpak2llvmy_mondo_relaxed.owl bovine hemorrhagic syndrome UMLS:C0950112|MESH:D030243 owl:Class MONDO:0005909 biolink:NamedThing pestivirus infectious disease Infections with viruses of the genus pestivirus, family flaviviridae. tmpak2llvmy_mondo_relaxed.owl Pestivirus disease or disorder|Pestivirus infectious disease|Pestivirus infection|infection, Pestivirus|Pestivirus caused disease or disorder|infections, Pestivirus MESH:D018182|EFO:0007432|UMLS:C0206611 owl:Class HGNC:14583 biolink:NamedThing VPS11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010982 biolink:NamedThing ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin tmpak2llvmy_mondo_relaxed.owl ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin|ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin UMLS:C1832858|GARD:0002957|MESH:C563402|OMIM:601039 owl:Class MONDO:0032838 biolink:NamedThing neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies tmpak2llvmy_mondo_relaxed.owl NEDMABA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES OMIM:618622 owl:Class GO:0050921 biolink:NamedThing positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpak2llvmy_mondo_relaxed.owl activation of chemotaxis|up regulation of chemotaxis|stimulation of chemotaxis|up-regulation of chemotaxis|upregulation of chemotaxis owl:Class MONDO:0004076 biolink:NamedThing tendon sheath lipoma A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. tmpak2llvmy_mondo_relaxed.owl lipoma of the tendon sheath|lipoma of tendon sheath|tendon sheath lipoma NCIT:C6499|DOID:7016|UMLS:C1336703 owl:Class MONDO:0024715 biolink:NamedThing benign synovial neoplasm A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the synovium|benign tumor of the synovium|benign synovial neoplasm|benign synovioma|benign synovial tumor|synovioma, benign|benign synovium neoplasm|benign tumor of synovium|benign neoplasm of synovium|synovium neoplasm, benign UMLS:C0221289|NCIT:C3829|ICDO:9040/0 owl:Class UBERON:0003315 biolink:NamedThing mesenchyme of ovary Mesenchyme that is part of a developing ovary [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gonad of female reproductive system mesenchyme|gonada of female reproductive system mesenchyme|mesenchyme of female reproductive system gonad|female reproductive system gonad mesenchyme|mesenchyme of female reproductive system gonada|ovary mesenchyme|female reproductive system gonada mesenchyme|mesenchyme of gonada of female reproductive system|mesenchyme of gonad of female reproductive system owl:Class MONDO:0003884 biolink:NamedThing lipoma of the rectum A benign adipose tissue neoplasm of the rectum. tmpak2llvmy_mondo_relaxed.owl rectal lipoma|lipoma of rectum|rectum lipoma NCIT:C5551|UMLS:C1335684|DOID:6459 owl:Class MONDO:0008491 biolink:NamedThing stiff-person syndrome Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. tmpak2llvmy_mondo_relaxed.owl progressive encephalomyelitis with rigidity|SMS|Stiff man syndrome|Stiff person syndrome and related disorders|Moersch-Woltman syndrome|Stiff-man syndrome|Stiff-Man syndrome|Morsch Woltman syndrome|STIFF-PERSON syndrome|Stiff Person syndrome|Stiff-trunk syndrome|SPS|stiff-person syndrome|stiff man syndrome MedDRA:10042044|GARD:0005023|MESH:D016750|ICD10:G25.8|EFO:0007498|DOID:13366|OMIM:184850|NCIT:C85170|UMLS:C0085292|ICD9:333.91|SCTID:5217008|ICD10:G25.82|Orphanet:3198 owl:Class CHEBI:78616 biolink:NamedThing carbohydrates and carbohydrate derivatives Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. tmpak2llvmy_mondo_relaxed.owl carbohydrates and their derivatives|carbohydrates and derivatives owl:Class ENVO:01001479 biolink:NamedThing fluid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003866 biolink:NamedThing liver extraskeletal osteosarcoma An osteosarcoma arising from the liver. tmpak2llvmy_mondo_relaxed.owl hepatic osteogenic sarcoma|osteogenic sarcoma of liver|liver extraskeletal osteosarcoma|osteosarcoma of liver|liver osteosarcoma|liver osteogenic sarcoma|osteogenic sarcoma of the liver|hepatic osteosarcoma|hepatic extraskeletal osteosarcoma|osteosarcoma of the liver|liver osteosarcoma (disease) DOID:6370|UMLS:C1333974|NCIT:C5833 owl:Class MONDO:0044305 biolink:NamedThing ectodermal dysplasia 13, hair/tooth type tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia 13, hair/tooth type|ECTD13 UMLS:C4479322|OMIM:617392|DOID:0111650 owl:Class MONDO:0032932 biolink:NamedThing mitochondrial DNA depletion syndrome 18 tmpak2llvmy_mondo_relaxed.owl MTDPS18|MITOCHONDRIAL DNA DEPLETION SYNDROME 18 OMIM:618811 owl:Class MONDO:0019151 biolink:NamedThing oligocone trichromacy Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision. tmpak2llvmy_mondo_relaxed.owl Oligocone syndrome UMLS:C4302876|SCTID:722066001|Orphanet:75378|UMLS:CN205696 owl:Class MONDO:0019769 biolink:NamedThing X-linked intellectual disability, Sutherland-Haan type tmpak2llvmy_mondo_relaxed.owl Orphanet:93950|UMLS:CN206704 owl:Class GO:0050870 biolink:NamedThing positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. tmpak2llvmy_mondo_relaxed.owl upregulation of T cell activation|positive regulation of T lymphocyte activation|positive regulation of T-lymphocyte activation|up-regulation of T cell activation|stimulation of T cell activation|up regulation of T cell activation|positive regulation of T-cell activation|activation of T cell activation owl:Class GO:0050863 biolink:NamedThing regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell activation. tmpak2llvmy_mondo_relaxed.owl regulation of T lymphocyte activation|regulation of T-lymphocyte activation|regulation of T-cell activation owl:Class GO:0045191 biolink:NamedThing regulation of isotype switching Any process that modulates the frequency, rate or extent of isotype switching. tmpak2llvmy_mondo_relaxed.owl regulation of class switching|regulation of isotype switch recombination|regulation of class switch recombination owl:Class HGNC:19967 biolink:NamedThing CCDC88C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012371 biolink:NamedThing Noonan syndrome 3 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpak2llvmy_mondo_relaxed.owl KRAS gene related Noonan syndrome|KRAS Noonan syndrome|NS3|Noonan syndrome 3|Noonan syndrome caused by mutation in KRAS|Noonan syndrome type 3 UMLS:C1860991|DOID:0060581|MESH:C537847|OMIM:609942|GARD:0009885 https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 owl:Class NCBITaxon:37020 biolink:NamedThing Oryzomys palustris tmpak2llvmy_mondo_relaxed.owl marsh rice rat GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29122 biolink:NamedThing Oryzomys tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0009121 biolink:NamedThing Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. tmpak2llvmy_mondo_relaxed.owl Abnormality of the axial skeleton UMLS:C4024586|UMLS:C4020785 peter 2008-04-05T11:16:00Z human_phenotype owl:Class HP:0011842 biolink:NamedThing Abnormality of skeletal morphology An abnormality of the form, structure, or size of the skeletal system. tmpak2llvmy_mondo_relaxed.owl Abnormally shaped skeletal UMLS:C4023165 peter 2012-05-07T08:08:37Z human_phenotype owl:Class NCBITaxon:53549 biolink:NamedThing Sabethini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43817 biolink:NamedThing Culicinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:31979 biolink:NamedThing Clostridiaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:186802 biolink:NamedThing Eubacteriales tmpak2llvmy_mondo_relaxed.owl Clostridiales PMID:24480908|PMID:16558750|GC_ID:11 ncbi_taxonomy owl:Class GO:0043123 biolink:NamedThing positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. tmpak2llvmy_mondo_relaxed.owl positive regulation of I-kappaB kinase/NF-kappaB cascade|up-regulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade|stimulation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade owl:Class HGNC:6220 biolink:NamedThing KCNA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009870 biolink:NamedThing pili torti Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome. tmpak2llvmy_mondo_relaxed.owl pili torti, Ronchese type|pili torti|coarse, dry, lusterless hair which breaks off easily|twisted hair|pili torti (disease)|pili torti, early-onset pili torti (disease) OMIM:261900|GARD:0004361|Orphanet:2889|HP:0003777|MESH:C562485|ICD10:Q84.1|SCTID:17170005 owl:Class MONDO:0017002 biolink:NamedThing polysomy of X chromosome tmpak2llvmy_mondo_relaxed.owl Orphanet:263723 owl:Class MONDO:0016999 biolink:NamedThing X chromosome number anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:263714 owl:Class MONDO:0024527 biolink:NamedThing glomerulopathy with fibronectin deposits 1 tmpak2llvmy_mondo_relaxed.owl glomerulopathy with fibronectin deposits 1|glomerulopathy with giant fibrillar deposits|GFND1|lobular glomerulopathy, familial OMIM:137950 owl:Class MONDO:0020310 biolink:NamedThing familial focal epilepsy with variable foci Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. tmpak2llvmy_mondo_relaxed.owl familial partial epilepsy with variable foci|FFEVF|epilepsy, familial focal, with variable foci|familial focal epilepsy with variable foci Orphanet:98820|GARD:0013295|MESH:C565785|UMLS:CN207131|OMIMPS:604364|SCTID:764522009 owl:Class UBERON:0009549 biolink:NamedThing hepatic sinusoid of right of lobe of liver A hepatic sinusoid that is part of a right lobe of liver. tmpak2llvmy_mondo_relaxed.owl right lobe hepatic sinusoids owl:Class GO:0007617 biolink:NamedThing mating behavior The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. tmpak2llvmy_mondo_relaxed.owl mating behaviour owl:Class UBERON:0024045 biolink:NamedThing white matter of the cerebellar cortex White matter that lies deep to the granular cell layer of the cerebellar cortex. It contains afferents to the cerebellar cortex and axons that run between the cerebellar cortex and the deep cerebellar nuclei. tmpak2llvmy_mondo_relaxed.owl white matter of the cerebellar cortex owl:Class UBERON:0019291 biolink:NamedThing white matter of metencephalon tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7217 biolink:NamedThing MPL tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000014841 biolink:NamedThing sonic hedgehog protein tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002941 biolink:NamedThing anal margin carcinoma A carcinoma that arises from epithelial cells of the perianal skin tmpak2llvmy_mondo_relaxed.owl carcinoma of perianal skin|perianal skin carcinoma|carcinoma of the anal margin|carcinoma of anal margin|anal margin cancer|anal margin carcinoma DOID:4284|NCIT:C7472|UMLS:C0349534 owl:Class MONDO:0017168 biolink:NamedThing benign epithelial tumor of salivary glands tmpak2llvmy_mondo_relaxed.owl Orphanet:276148|UMLS:CN202592|ICD10:D11.7|ICD10:D11.0 owl:Class MONDO:0012539 biolink:NamedThing Joubert syndrome 6 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 6|Joubert syndrome caused by mutation in TMEM67|JBTS6|Joubert syndrome 6|TMEM67 Joubert syndrome OMIM:610688|DOID:0111001|UMLS:C1853153|MESH:C537689 owl:Class HGNC:10907 biolink:NamedThing SLC11A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11079 biolink:NamedThing SLC9A6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003471 biolink:NamedThing artery of lower lip The Iinferior labial artery (inferior labial branch of facial artery) arises near the angle of the mouth; it passes upward and forward beneath the Triangularis and, penetrating the Orbicularis oris, runs in a tortuous course along the edge of the lower lip between this muscle and the mucous membrane. It supplies the labial glands, the mucous membrane, and the muscles of the lower lip; and anastomoses with the artery of the opposite side, and with the mental branch of the inferior alveolar artery. tmpak2llvmy_mondo_relaxed.owl ramus labialis inferior arteriae facialis|inferior labial artery|inferior labial branch of facial artery|arteria labialis inferior|ramus labialis inferior (arteria facialis) owl:Class UBERON:0009657 biolink:NamedThing artery of lip tmpak2llvmy_mondo_relaxed.owl labial artery owl:Class HP:0100035 biolink:NamedThing Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. tmpak2llvmy_mondo_relaxed.owl Vocal tics|Verbal tics MSH:D020323|UMLS:C0751901 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0100033 biolink:NamedThing Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. tmpak2llvmy_mondo_relaxed.owl Tics|Tic disorder UMLS:C2169806 Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. doelkens 2010-06-10T12:10:29Z human_phenotype owl:Class UBERON:0010368 biolink:NamedThing pulmonary lobule The smallest anatomical unit of the lung, measuring 0.50 to 2.00 cm in diameter. Each lobule is composed of 4-8 terminal bronchioles and their distal alveolar ducts and sacs. The lobules are separated by fibrous interlobular septa. tmpak2llvmy_mondo_relaxed.owl lobulus pulmonis owl:Class UBERON:0009911 biolink:NamedThing lobule tmpak2llvmy_mondo_relaxed.owl lobulus owl:Class UBERON:0000985 biolink:NamedThing axillary vein Vein that drains the axilla tmpak2llvmy_mondo_relaxed.owl vena axillaris|subcostal vein owl:Class MONDO:0004218 biolink:NamedThing childhood germ cell brain tumor A germ cell tumor arising from brain during childhood. tmpak2llvmy_mondo_relaxed.owl Brain germ cell tumor|childhood germ cell brain neoplasm|pediatric brain germ cell neoplasm|germ cell tumor of the childhood brain|germ cell neoplasm of the childhood brain|germ cell neoplasm of childhood brain|germ cell tumor of childhood brain|pediatric brain germ cell tumor|germ cell tumor of the pediatric brain|germ cell tumor of pediatric brain|childhood brain germ cell neoplasm|germ cell neoplasm of pediatric brain|germ cell neoplasm of the pediatric brain|childhood brain germ cell tumor NCIT:C5795|UMLS:C1377598|DOID:7430 owl:Class NCBITaxon:640628 biolink:NamedThing Poinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006339 biolink:NamedThing ovarian microcystic stromal tumor A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. tmpak2llvmy_mondo_relaxed.owl NCIT:C121953|EFO:1000424|UMLS:C4054287 owl:Class MONDO:0024387 biolink:NamedThing benign ovarian sex cord-stromal tumor A sex cord-stromal tumor arising from the ovary, without metastatic potential. tmpak2llvmy_mondo_relaxed.owl Sex cord stromal tumor, benign|benign Sex cord-stromal neoplasm of ovary|ovarian SEX cord-stromal tumor, benign|benign Sex cord-stromal tumor of ovary|ovarian sex cord-stromal tumor, benign|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal neoplasm of the ovary|benign ovarian Sex cord-stromal tumor NCIT:C6803|DOID:0080370|UMLS:C1332528 owl:Class MONDO:0020404 biolink:NamedThing shone complex A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. tmpak2llvmy_mondo_relaxed.owl shone syndrome|shone's syndrome (greater than 3 sites) ICD10:Q23.8|UMLS:C1868705|Orphanet:99063|NCIT:C99058|SCTID:41371000119100|ICD9:746.84|MedDRA:10066802 owl:Class MONDO:0019817 biolink:NamedThing congenital mitral valve insufficiency and/or stenosis tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.3|Orphanet:95464|ICD10:Q23.2|ICD10:Q23 owl:Class NCBITaxon:1980459 biolink:NamedThing Bayou orthohantavirus tmpak2llvmy_mondo_relaxed.owl Bayou hantavirus|Bayou virus GC_ID:1 NCBITaxon:37962 ncbi_taxonomy owl:Class MONDO:0003462 biolink:NamedThing papillary adenofibroma A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl papillary adenofibroma UMLS:C1377850|NCIT:C8986|DOID:5479 owl:Class MONDO:0006071 biolink:NamedThing adenofibroma A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. tmpak2llvmy_mondo_relaxed.owl benign mixed Muellerian tumor|adenofibroma, no ICD-O subtype|adenofibroma, no ICD-O subtype (morphologic abnormality)|female reproductive system adenofibroma|adenofibroma, benign EFO:1000070|UMLS:C0001422|NCIT:C8984|MESH:D000232|DOID:2683|ICDO:9013/0 owl:Class MONDO:0014784 biolink:NamedThing severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. tmpak2llvmy_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation|IHPMR OMIM:616816|UMLS:C4225196|Orphanet:467176 owl:Class MONDO:0020281 biolink:NamedThing metabolic disease with pigmentary retinitis tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98713|UMLS:CN207084 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0004040 biolink:NamedThing urinary bladder inverted papilloma A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpak2llvmy_mondo_relaxed.owl bladder inverted papilloma|urinary bladder inverted papilloma UMLS:C1511190|DOID:6932|NCIT:C39859|SCTID:447765004 owl:Class MONDO:0011287 biolink:NamedThing craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). tmpak2llvmy_mondo_relaxed.owl CAP syndrome|craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|CDAGS syndrome|craniosynostosis, anal anomalies, and porokeratosis|Cap syndrome ICD10:Q87.8|MESH:C536789|Orphanet:85199|GARD:0009506|OMIM:603116|SCTID:720812002 owl:Class MONDO:0016456 biolink:NamedThing 5q14.3 microdeletion syndrome The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. tmpak2llvmy_mondo_relaxed.owl 5q14.3 deletion syndrome|chromosome 5q14.3 deletion syndrome|Del(5)(q14.3)|monosomy 5q14.3|autosomal dominant intellectual disability 20 GARD:0012166|ICD10:Q93.5|Orphanet:228384|SCTID:719661007 Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this owl:Class ENVO:01001678 biolink:NamedThing fluid layer A layer which is composed primarily of some fluid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016092 biolink:NamedThing serous or mucinous cystadenoma of childhood Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. tmpak2llvmy_mondo_relaxed.owl serous cystadenoma of ovary in childhood|mucinous cystadenoma of ovary in childhood Orphanet:206470|ICD10:D27 owl:Class MONDO:0035008 biolink:NamedThing isolated splenic vein thrombosis tmpak2llvmy_mondo_relaxed.owl Orphanet:583856 owl:Class MONDO:0060704 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures tmpak2llvmy_mondo_relaxed.owl NEDSBAS|neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures|Elhattab-Alkuraya syndrome UMLS:CN244929|OMIM:617977 owl:Class UBERON:0004809 biolink:NamedThing salivary gland epithelium An epithelium that is part of a salivary gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of salivary gland|salivary gland epithelial tissue|epithelial tissue of salivary gland owl:Class MONDO:0012857 biolink:NamedThing porokeratosis 5, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl porokeratosis 5, disseminated superficial actinic type|POROK5|porokeratosis, disseminated superficial actinic, 3 MESH:C567356|OMIM:612293|UMLS:C2676769 owl:Class HP:0000966 biolink:NamedThing Hypohidrosis Abnormally diminished capacity to sweat. tmpak2llvmy_mondo_relaxed.owl Decreased ability to sweat|Oligohidrosis|Inadequate sweating|Decreased sweating|Sweating, decreased MSH:D007007|UMLS:C0020620|SNOMEDCT_US:45004005|MEDDRA:10021013 HP:0007551|HP:0007571 human_phenotype owl:Class NCBITaxon:85604 biolink:NamedThing Amphiesmenoptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006187 biolink:NamedThing duodenal villous adenoma A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl villous adenoma, duodenum|villous adenoma of the duodenum|duodenum villous adenoma|duodenal villous adenoma|duodenum adenoma|villous adenoma of duodenum UMLS:C1333322|DOID:0050927|EFO:1000225|NCIT:C5338 owl:Class MONDO:0021375 biolink:NamedThing tumor of duodenum A neoplasm (disease) that involves the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenum neoplasm (disease)|duodenum neoplasm|tumor of duodenum|neoplasm of the duodenum|tumor of the duodenum|neoplasm of duodenum|duodenum tumor|duodenal neoplasm|duodenal tumor NCIT:C2995|SCTID:126833009 owl:Class HGNC:6665 biolink:NamedThing LOXL1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009027 biolink:NamedThing vesical artery An artery that supplies blood to the urinary bladder. tmpak2llvmy_mondo_relaxed.owl vesical arteries|arteria vesicali owl:Class MONDO:0006790 biolink:NamedThing hypercementosis A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl cementation hyperplasia ICD10:K03.4|DOID:12733|MESH:D006936|ICD9:521.5|UMLS:C0020441|EFO:1000970|GARD:0006692|SCTID:78537008|MedDRA:10020596 https://rarediseases.info.nih.gov/diseases/6692/hypercementosis owl:Class MONDO:0002220 biolink:NamedThing tooth hard tissue disease tmpak2llvmy_mondo_relaxed.owl disorder of hard tissues of teeth|teeth hard tissue diseases|teeth hard tissue disease SCTID:46557008|ICD10:K03.89|UMLS:C0155926|DOID:214|ICD9:521.8|ICD10:K03|ICD10:K03.8|ICD9:521.89 owl:Class MONDO:0017415 biolink:NamedThing multiple pterygium syndrome tmpak2llvmy_mondo_relaxed.owl pterygium syndrome ICD9:755.8|MESH:C537377|ICD10:Q79.8|Orphanet:294060|DOID:0080110|SCTID:205819008 owl:Class CHEBI:27026 biolink:NamedThing toxin Poisonous substance produced by a biological organism such as a microbe, animal or plant. tmpak2llvmy_mondo_relaxed.owl toxin|toxins owl:Class MONDO:0015860 biolink:NamedThing anomaly of puberty or/and menstrual cycle tmpak2llvmy_mondo_relaxed.owl Orphanet:180208 owl:Class MONDO:0009515 biolink:NamedThing Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. tmpak2llvmy_mondo_relaxed.owl FLD|Norum disease|LCAT deficiency|familial LCAT deficiency|lecithin acyltransferase deficiency|lecithin:cholesterol acyltransferase deficiency|complete LCAT deficiency GARD:0004011|NCIT:C84813|ICD10:E78.6|UMLS:CN205883|SCTID:238091006|Orphanet:79293|DOID:1391|OMIM:245900 owl:Class MONDO:0004336 biolink:NamedThing rectal signet ring cell adenocarcinoma An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. tmpak2llvmy_mondo_relaxed.owl rectal signet Ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the rectum|signet Ring adenocarcinoma of the rectum|signet Ring adenocarcinoma of rectum|signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|rectum signet ring adenocarcinoma NCIT:C9168|UMLS:C0279654|DOID:7707 owl:Class MONDO:0009678 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. tmpak2llvmy_mondo_relaxed.owl MDDGA4|congenital muscular dystrophy, Fukuyama type|Fukuyama congenital muscular dystrophy|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|muscle-eye-brain-FKTN related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related|FCMD OMIM:253800|UMLS:C0410174|SCTID:111502003|ICD10:G71.0|NCIT:C126741|Orphanet:272|DOID:0050559 owl:Class UBERON:0004904 biolink:NamedThing neuron projection bundle connecting eye with brain A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila tmpak2llvmy_mondo_relaxed.owl optic nerve|optic nerve (generic) owl:Class MONDO:0015047 biolink:NamedThing amelogenesis imperfecta type 1 tmpak2llvmy_mondo_relaxed.owl hypoplastic amelogenesis imperfecta ICD10:K00.5|Orphanet:100031|ICD9:520.5|SCTID:109476006 owl:Class MONDO:0017992 biolink:NamedThing autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis tmpak2llvmy_mondo_relaxed.owl UMLS:CN237438|Orphanet:329173 owl:Class MONDO:0001294 biolink:NamedThing Horner syndrome Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. tmpak2llvmy_mondo_relaxed.owl Horner's syndrome|Bernard Horner syndrome|Bernard-Horner syndrome|cervical sympathetic paralysis|oculosympathetic palsy|Horner syndrome ICD10:G90.2|DOID:11486|SCTID:192915005|GARD:0006670|MESH:D006732|ICD9:337.09|NCIT:C28155 https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome owl:Class MONDO:0001300 biolink:NamedThing autonomic neuropathy An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. tmpak2llvmy_mondo_relaxed.owl autonomic nervous system peripheral neuropathy|peripheral neuropathy of autonomic nervous system|autonomic peripheral neuropathy DOID:11504|CSP:2042-2001|SCTID:277879009|DOID:0060054|NCIT:C27033|CSP:2049-9000|UMLS:C0259749 owl:Class GO:0006518 biolink:NamedThing peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. tmpak2llvmy_mondo_relaxed.owl peptide metabolism owl:Class MONDO:0006666 biolink:NamedThing atrophy of thyroid Tissue degeneration and diminished size of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid gland atrophy|thyroid atrophy NCIT:C26942|ICD10:E03.4|UMLS:C2981141|ICD9:246.8|EFO:1000827|MedDRA:10043693|SCTID:190309006 owl:Class MONDO:0013892 biolink:NamedThing C3 glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. tmpak2llvmy_mondo_relaxed.owl CFHR5 deficiency|complement-mediated membranoproliferative glomerulonephritis ICD10:N00.5|Orphanet:329931|OMIM:614809|UMLS:CN187045|UMLS:C3553720|UMLS:C4055342|NCIT:C123043 owl:Class MONDO:0010865 biolink:NamedThing pseudoaminopterin syndrome Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. tmpak2llvmy_mondo_relaxed.owl aminopterin syndrome sine aminopterin|ASSA|pseudoaminopterin syndrome|aminopterin syndrome-like sine aminopterin SCTID:715867000|UMLS:C0795939|ICD10:Q82.0|GARD:0004544|Orphanet:221120|MESH:C535823|OMIM:600325 https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome owl:Class HGNC:3535 biolink:NamedThing F2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006929 biolink:NamedThing Proteus infectious disease Infections with bacteria of the genus proteus. tmpak2llvmy_mondo_relaxed.owl Proteus disease or disorder|Proteus infection|Proteus caused disease or disorder|infection, Proteus|Proteus infectious disease|infections, Proteus UMLS:C0033700|MESH:D011512|SCTID:186437007|EFO:1001130 owl:Class MONDO:0001247 biolink:NamedThing social phobia An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. tmpak2llvmy_mondo_relaxed.owl social anxiety disorder DOID:11257|ICD10:F40.1|ICD10:F40.10|EFO:1001917|ICD9:300.23|SCTID:25501002|NCIT:C34927 owl:Class MONDO:0020132 biolink:NamedThing cranial nerve and nuclear aplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:98518 owl:Class PATO:0000470 biolink:NamedThing increased amount An amount which is relatively high. tmpak2llvmy_mondo_relaxed.owl increased number|accessory|increased|supernumerary|present in greater numbers in organism owl:Class MONDO:0014587 biolink:NamedThing congenital myasthenic syndrome 9 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome caused by mutation in MUSK|MUSK congenital myasthenic syndrome|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 9|CMS9 DOID:0110670|UMLS:C4225368|OMIM:616325 owl:Class MONDO:0003845 biolink:NamedThing corpus callosum lipoma A rare benign adipose tissue neoplasm of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl corpus callosum lipoma|lipoma of corpus callosum|lipoma of the corpus callosum NCIT:C5438|DOID:6294|UMLS:C1333160 owl:Class HGNC:393 biolink:NamedThing AKT3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032270 biolink:NamedThing positive regulation of cellular protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl up regulation of cellular protein metabolic process|activation of cellular protein metabolic process|upregulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|positive regulation of cellular protein metabolism|stimulation of cellular protein metabolic process owl:Class GO:0006937 biolink:NamedThing regulation of muscle contraction Any process that modulates the frequency, rate or extent of muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025351 biolink:NamedThing multiple congenital anomalies-neurodevelopmental syndrome, x-linked tmpak2llvmy_mondo_relaxed.owl MCAND|Linked syndrome OMIM:301056 owl:Class HP:0012332 biolink:NamedThing Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. tmpak2llvmy_mondo_relaxed.owl Autonomic dysfunction|Autonomic dysregulation|Dysautonomia UMLS:C4022952 peter 2013-09-13T07:53:55Z HP:0002271|HP:0002459|HP:0007310|HP:0002387 human_phenotype owl:Class HP:0002270 biolink:NamedThing Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025714 The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. human_phenotype owl:Class GO:1903039 biolink:NamedThing positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. tmpak2llvmy_mondo_relaxed.owl positive regulation of leukocyte adhesion|activation of leukocyte adhesion|activation of leukocyte cell-cell adhesion|upregulation of leukocyte cell adhesion|up-regulation of leukocyte adhesion|up-regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|activation of leukocyte cell adhesion|up regulation of leukocyte adhesion|up regulation of leukocyte cell-cell adhesion|up regulation of leukocyte cell adhesion|upregulation of leukocyte adhesion|positive regulation of leukocyte cell adhesion|up-regulation of leukocyte cell-cell adhesion owl:Class MONDO:0010178 biolink:NamedThing congenital bilateral aplasia of vas deferens from CFTR mutation An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis. tmpak2llvmy_mondo_relaxed.owl congenital bilateral aplasia of the vas deferens|CBAVD|vas deferens, congenital bilateral aplasia of|CAVD NCIT:C129303|OMIM:277180 owl:Class MONDO:0005883 biolink:NamedThing ophthalmic herpes zoster Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. tmpak2llvmy_mondo_relaxed.owl HZO|herpes zoster ophthalmicus|Herpes zoster ophthalmicus (HZO) SCTID:87513003|ICD9:053.29|UMLS:C0019364|EFO:0007403|MESH:D006563|GARD:0009721 owl:Class MONDO:0005667 biolink:NamedThing biliary dyskinesia A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. tmpak2llvmy_mondo_relaxed.owl sphincter of Oddi dysfunction MESH:D001657|UMLS:C0005416|ICD9:575.8|EFO:0007169|HP:0012396|DOID:4140|SCTID:197432008 Editor note: consider ciliary classification owl:Class MONDO:0012142 biolink:NamedThing orofacial cleft 5 Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. tmpak2llvmy_mondo_relaxed.owl MSX1 orofacial cleft|orofacial cleft type 5|orofacial cleft 5|cleft lip with or without cleft palate, nonsyndromic, 5|OFC5|orofacial cleft caused by mutation in MSX1 MESH:C563843|OMIM:608874|UMLS:C1837210|DOID:0080399 owl:Class HGNC:11139 biolink:NamedThing SNCAIP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005306 biolink:NamedThing ankylosing spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. tmpak2llvmy_mondo_relaxed.owl Bekhterev syndrome|Bekhterev's disease|Marie-Strumpell disease NCIT:C84564|MESH:D013167|DOID:7147|ICD9:720.0|EFO:0003898|SCTID:9631008|ICD10:M45 owl:Class MONDO:0005095 biolink:NamedThing spondyloarthropathy A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. tmpak2llvmy_mondo_relaxed.owl seronegative spondyloarthropathy|spondyloarthritis|spondylarthrosis|spondylarthropathy|spondarthropathy EFO:0000706|DOID:1123|NCIT:C116778|GARD:0004971 owl:Class MONDO:0015824 biolink:NamedThing oculomaxillofacial dysostosis Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. tmpak2llvmy_mondo_relaxed.owl oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome|oculomaxillofacial dysplasia with oblique facial clefts MESH:C537736|ICD10:Q75.1|SCTID:763830009|Orphanet:1794|GARD:0004046|UMLS:C1838348 owl:Class CL:0000973 biolink:NamedThing IgA memory B cell A class switched memory B cell that expresses IgA. tmpak2llvmy_mondo_relaxed.owl memory IgA B lymphocyte|memory IgA B-cell|IgA memory B-cell|memory IgA B cell|IgA memory B-lymphocyte|memory IgA B-lymphocyte|IgA memory B lymphocyte IgA memory B cell are also reportedly RORalpha-positive. cell owl:Class CL:0000972 biolink:NamedThing class switched memory B cell A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. tmpak2llvmy_mondo_relaxed.owl class switched memory B lymphocyte|class switched memory B-lymphocyte|class switched memory B-cell Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:0011408 biolink:NamedThing hereditary spastic paraplegia 10 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia 10|spastic paraplegia 10|autosomal dominant spastic paraplegia type 10|SPG10|autosomal dominant spastic paraplegia|hereditary spastic paraplegia type 10|spastic paraplegia 10 with or without peripheral neuropathy|KIF5A hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10, autosomal dominant MESH:C537482|GARD:0009590|UMLS:C1858712|DOID:0110763|OMIM:604187|SCTID:732948003|UMLS:C4518536|ICD10:G11.4|Orphanet:100991 owl:Class UBERON:0004952 biolink:NamedThing submucosa of bronchiole A submucosa that is part of a bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of lobular bronchiole|lobular bronchiole submucosa|bronchiole submucosa owl:Class MONDO:0021085 biolink:NamedThing gastric neoplasm A benign or malignant neoplasm involving the stomach. tmpak2llvmy_mondo_relaxed.owl neoplasm of the stomach|neoplasm of stomach|stomach neoplasm|gastric neoplasm|stomach tumor|tumor of the stomach|gastric tumor|tumor of stomach|stomach neoplasm (disease) SCTID:126824007|MESH:D013274|NCIT:C3387|EFO:0003897|UMLS:C0038356 owl:Class GO:0010646 biolink:NamedThing regulation of cell communication Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10718 biolink:NamedThing SELE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015849 biolink:NamedThing longitudinal vaginal septum tmpak2llvmy_mondo_relaxed.owl HP:0008740|ICD10:Q52.1|Orphanet:180157 owl:Class CL:1001580 biolink:NamedThing hippocampus glial cell Glial cell of hippocampus. tmpak2llvmy_mondo_relaxed.owl hippocampus neuroglial cell|hippocampal glial cell|hippocampus glial cells CALOHA:TS-1257 owl:Class GO:0042636 biolink:NamedThing negative regulation of hair cycle Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpak2llvmy_mondo_relaxed.owl down regulation of hair cycle|inhibition of hair cycle|downregulation of hair cycle|down-regulation of hair cycle owl:Class MONDO:0043077 biolink:NamedThing weinstein kliman scully syndrome tmpak2llvmy_mondo_relaxed.owl primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies GARD:0000392|MESH:C536688|UMLS:C2931289 owl:Class MONDO:0100097 biolink:NamedThing congenital alveolar dysplasia due to TBX4 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpak2llvmy_mondo_relaxed.owl CAD due to TBX4 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0100077 biolink:NamedThing congenital alveolar dysplasia A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis. tmpak2llvmy_mondo_relaxed.owl CAD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0016176 biolink:NamedThing axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:209004|ICD10:G61.8 owl:Class MONDO:0016581 biolink:NamedThing conotruncal heart malformations Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). tmpak2llvmy_mondo_relaxed.owl conotruncal heart malformations|truncus arteriosus communis|conotruncal cardiac defects|interrupted aortic Arch|persistent truncus arteriosus|conotruncal anomaly face syndrome|CTHM|Double-outlet right ventricle|Taussig-Bing syndrome or defect UMLS:C1857586|OMIM:217095|Orphanet:2445|GARD:0008189|ICD9:747.11|SCTID:218728005 owl:Class MONDO:0020285 biolink:NamedThing transposition of the great arteries and conotruncal cardiac anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98717 owl:Class MONDO:0011152 biolink:NamedThing PHGDH deficiency 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form tmpak2llvmy_mondo_relaxed.owl 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|PHGDH deficiency Orphanet:79351|ICD10:E72.8|MESH:C566618|UMLS:C1866174|OMIM:601815|DOID:0050722 owl:Class MONDO:0018491 biolink:NamedThing 3-phosphoglycerate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:422519|ICD9:270.7|UMLS:C0580190|SCTID:303098002 owl:Class MONDO:0006185 biolink:NamedThing ductal or ductular proliferation A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver. tmpak2llvmy_mondo_relaxed.owl EFO:1000222 Editor note: consider obsoleting owl:Class MONDO:0019211 biolink:NamedThing isolated congenital anonychia Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic congenital nail disorder-4|isolated anonychia|congenital anonychia|nonsyndromic congenital nail disorder, 4 ICD10:Q84.3|Orphanet:79143|GARD:0012930 owl:Class HGNC:10582 biolink:NamedThing SCN10A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010883 biolink:NamedThing regulation of lipid storage Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpak2llvmy_mondo_relaxed.owl regulation of lipid sequestration owl:Class HP:0009116 biolink:NamedThing Aplasia/Hypoplasia involving bones of the skull tmpak2llvmy_mondo_relaxed.owl UMLS:C4024591 peter 2008-04-05T10:53:00Z human_phenotype owl:Class CHEBI:64416 biolink:NamedThing EC 1.3.1.43 (arogenate dehydrogenase) inhibitor An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43). tmpak2llvmy_mondo_relaxed.owl EC 1.3.1.43 inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|cyclohexadienyl dehydrogenase inhibitors|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitors|TyrA(a) inhibitor|L-arogenate:NAD+ oxidoreductase inhibitor|cyclohexadienyl dehydrogenase inhibitor|EC 1.3.1.43 inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|arogenate dehydrogenase inhibitor|L-arogenate:NAD+ oxidoreductase inhibitors|arogenate dehydrogenase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|TyrA(a) inhibitors owl:Class CHEBI:76857 biolink:NamedThing EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*). tmpak2llvmy_mondo_relaxed.owl EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* inhibitor|EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor owl:Class HGNC:9453 biolink:NamedThing PRODH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018380 biolink:NamedThing idiopathic avascular necrosis tmpak2llvmy_mondo_relaxed.owl idiopathic AVN Orphanet:399307|ICD10:M87.0 owl:Class MONDO:0018379 biolink:NamedThing primary avascular necrosis tmpak2llvmy_mondo_relaxed.owl primary AVN Orphanet:399302|ICD10:M87.8 owl:Class GO:0002675 biolink:NamedThing positive regulation of acute inflammatory response Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. tmpak2llvmy_mondo_relaxed.owl activation of acute inflammatory response|up regulation of acute inflammatory response|upregulation of acute inflammatory response|up-regulation of acute inflammatory response|stimulation of acute inflammatory response owl:Class MONDO:0002122 biolink:NamedThing neuritis A neuropathy arising from inflammation of one or more nerves. tmpak2llvmy_mondo_relaxed.owl peripheral neuritis|nerve inflammation SCTID:128192007|SCTID:84299009|ICD9:729.2|MESH:D009443|DOID:1803|NCIT:C116381|UMLS:C0027813 owl:Class MONDO:0009751 biolink:NamedThing neuropathy, hereditary sensory, atypical A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. tmpak2llvmy_mondo_relaxed.owl atypical hereditary sensory neuropathy|neuropathy, hereditary sensory, atypical DOID:0070160|OMIM:256860|UMLS:C1850384|MESH:C564946 owl:Class UBERON:0006170 biolink:NamedThing mesonephric capsule The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6530 biolink:NamedThing LCT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012521 biolink:NamedThing herpes simplex encephalitis Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. tmpak2llvmy_mondo_relaxed.owl Herpes simplex neuroinvasion|HSV encephalitis|Herpes simplex meningo-encephalitis|Simplexvirus infectious encephalitis|herpetic encephalitis|HSE|Herpes simplex virus encephalitis|HSVE|Simplexvirus caused infectious encephalitis ICD10:G05.1*|GARD:0006649|MESH:D020803|NCIT:C84762|Orphanet:1930|ICD10:B00.4+ https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis owl:Class MONDO:0014074 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant intermediate F|DI-CMTF|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease dominant intermediate type F|CMTDIF|autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant Intermediate type F DOID:0110206|OMIM:615185|GARD:0009206|ICD10:G60.0|Orphanet:352670|UMLS:C3554654 Not in the OMIM series. owl:Class MONDO:0060578 biolink:NamedThing neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures tmpak2llvmy_mondo_relaxed.owl NEMMLAS|neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures OMIM:617710|Orphanet:572798|UMLS:C4540192 owl:Class MONDO:0003028 biolink:NamedThing thyroid sarcoma A malignant soft tissue neoplasm primarily involving the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid gland sarcoma|sarcoma of thyroid gland|sarcoma of thyroid|sarcoma of the thyroid|thyroid sarcoma|sarcoma of the thyroid gland NCIT:C6041|DOID:4515|UMLS:C1336756|EFO:1001971 owl:Class GO:0016051 biolink:NamedThing carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpak2llvmy_mondo_relaxed.owl carbohydrate formation|anabolic carbohydrate metabolic process|carbohydrate synthesis|carbohydrate biosynthesis|carbohydrate anabolism|anabolic carbohydrate metabolism owl:Class MONDO:0004026 biolink:NamedThing skin tag A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. tmpak2llvmy_mondo_relaxed.owl cutaneous tag|fibroma molle|cutaneous fibroepithelial polyp|fibroepithelial polyp of the skin|acrochordon|fibroepithelial polyp of skin|fibroepithelial polyp|soft fibroma DOID:6873|SCTID:201091002|NCIT:C3374|UMLS:C0037293 owl:Class MONDO:0007143 biolink:NamedThing aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. tmpak2llvmy_mondo_relaxed.owl familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly with peculiar facies and mental retardation|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly - peculiar facies - intellectual disability|aortic arch anomaly with peculiar facies and intellectual disability OMIM:107500|UMLS:C1862682|GARD:0000739|ICD10:Q87.8|MESH:C537785|Orphanet:1110 owl:Class MONDO:0000291 biolink:NamedThing granulomatous amebic encephalitis Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. tmpak2llvmy_mondo_relaxed.owl granulomatous amebic encephalitis due to Acanthamoeba|Acanthamoeba granulomatous encephalitis|granulomatous amoebic encephalitis|Acanthamoeba encephalitis GARD:0012651|UMLS:C0338428|SCTID:230187000|DOID:0050246|ICD9:323.2 https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis owl:Class UBERON:0003868 biolink:NamedThing proximal phalanx of pes A proximal phalanx that is part of a pedal digit [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx proximalis pedis|proximal pedal phalanx|proximal phalanx of foot digit|proximal phalanx of foot|foot proximal phalanx|proximal phalanx of toe|proximal phalanx of hind digit|proximal phalanx of pes owl:Class GO:0008016 biolink:NamedThing regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpak2llvmy_mondo_relaxed.owl regulation of cardiac contraction owl:Class MONDO:0030873 biolink:NamedThing cardiofacioneurodevelopmental syndrome tmpak2llvmy_mondo_relaxed.owl CFNDS OMIM:619123 owl:Class MONDO:0014798 biolink:NamedThing brachydactyly type A1D Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. tmpak2llvmy_mondo_relaxed.owl BMPR1B brachydactyly type A1|BDA1D|brachydactyly, type A1, D|brachydactyly type A1 caused by mutation in BMPR1B OMIM:616849|UMLS:C4225183|DOID:0110978 owl:Class MONDO:0007215 biolink:NamedThing brachydactyly type A1 Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. tmpak2llvmy_mondo_relaxed.owl brachydactyly, Farabee type|Farabee-type brachydactyly|Farabee type brachydactyly|brachydactyly Farabee type|brachydactyly, type A1|BDA1 SCTID:715720006|DOID:0110964|MESH:C537088|UMLS:C1862151|ICD10:Q73.8|GARD:0000978|Orphanet:93388 https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 owl:Class CHEBI:33679 biolink:NamedThing helium molecular entity tmpak2llvmy_mondo_relaxed.owl helium molecular entities|helium compounds|helium molecular entity owl:Class MONDO:0008777 biolink:NamedThing gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. tmpak2llvmy_mondo_relaxed.owl Cdgdl|CDGDL|corneal amyloidosis|corneal dystrophy, lattice type 3|subepithelial amyloidosis of the cornea|corneal dystrophy, gelatinous drop-like|GDCD|lattice corneal dystrophy type 3|GDLD|amyloidosis corneal|amyloidosis, corneal|lattice corneal dystrophy, type 3|primary familial amyloidosis of the cornea|amyloid corneal dystrophy, Japanese type|gelatinous drop-like corneal dystrophy DOID:0060449|Orphanet:98957|UMLS:C0339273|NCIT:C142805|GARD:0009647|OMIM:204870|MESH:C535480|ICD10:H18.5 https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal owl:Class MONDO:0021237 biolink:NamedThing adrenal medulla neoplasm A neoplasm (disease) that involves the adrenal medulla. tmpak2llvmy_mondo_relaxed.owl adrenal medulla tumor|tumor of adrenal medulla|adrenal medulla neoplasm (disease)|neoplasm of adrenal medulla NCIT:C4856|UMLS:C0596046 owl:Class MONDO:0001776 biolink:NamedThing prostate calculus A concretion in the prostate. tmpak2llvmy_mondo_relaxed.owl prostatic lithiasis|calculus of prostate|Stone of prostate|prostate gland lower urinary tract calculus|lower urinary tract calculus of prostate gland|prostatic stone ICD10:N42.0|ICD9:602.0|UMLS:C0149525|SCTID:85324003|DOID:13689 owl:Class MONDO:0003143 biolink:NamedThing angiokeratoma A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). tmpak2llvmy_mondo_relaxed.owl cutaneous angiokeratoma|angiokeratoma of skin|skin angiokeratoma|angiokeratoma of the skin|angiokeratoma (morphologic abnormality) SCTID:254788004|MESH:D000794|DOID:479|UMLS:C0346075|CSP:2007-0683|UMLS:C0002985|NCIT:C4488 owl:Class MONDO:0018056 biolink:NamedThing bullous lichen planus Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions. tmpak2llvmy_mondo_relaxed.owl MedDRA:10056960|SCTID:6111009|NCIT:C34778|UMLS:C0023648|ICD10:L43.1|Orphanet:33408 owl:Class MONDO:0006572 biolink:NamedThing lichen planus A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. tmpak2llvmy_mondo_relaxed.owl ruber planus|lichen ruber planus|lichen, ruber planus ICD10:L43|NCIT:C3189|DOID:9201|ICD10:L43.9|ICD9:697.0|SCTID:4776004|EFO:1000726|UMLS:C0023646|MESH:D008010 owl:Class MONDO:0003379 biolink:NamedThing rectum leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl rectal leiomyosarcoma|leiomyosarcoma of rectum|leiomyosarcoma of the rectum|rectum leiomyosarcoma DOID:5297|UMLS:C1335683|NCIT:C5549 owl:Class MONDO:0008414 biolink:NamedThing schizophrenia 1 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. tmpak2llvmy_mondo_relaxed.owl SCZD1|schizophrenia 1|schizophrenia susceptibility locus, chromosome 5-related|schizophrenia 1 with or without an affective disorder DOID:0070077|OMIM:181510 owl:Class NCBITaxon:7178 biolink:NamedThing Culex tritaeniorhynchus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001376 biolink:NamedThing Limitation of joint mobility A reduction in the freedom of movement of one or more joints. tmpak2llvmy_mondo_relaxed.owl Limitation of joint mobility|Decreased joint mobility|Limited joint motion|Limited joint mobility|Decreased mobility of joints UMLS:C1857108 HP:0003101 human_phenotype owl:Class MONDO:0100310 biolink:NamedThing hereditary cerebellar ataxia Cerebellar ataxia that is transmitted from parent to child. tmpak2llvmy_mondo_relaxed.owl cerebellar hereditary ataxia|hereditary cerebellar ataxia NCIT:C140268 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0003112 biolink:NamedThing Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormality of serum amino acid levels|Abnormality of serum amino acid level UMLS:C4025653 human_phenotype owl:Class MONDO:0008335 biolink:NamedThing short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. tmpak2llvmy_mondo_relaxed.owl pterygia intellectual disability facial dysmorphism|pterygia, mental retardation and distinctive craniofacial features|Haspeslagh syndrome|pterygia mental retardation facial dysmorphism|pterygia, intellectual disability, and distinctive craniofacial features|pterygia, intellectual disability and distinctive craniofacial features|pterygia, mental retardation, and distinctive craniofacial features|Haspeslagh-Fryns-Muelenaere syndrome Orphanet:2994|OMIM:177980|MESH:C535844|UMLS:C1867443|ICD10:Q87.8|SCTID:716090004|GARD:0002605 owl:Class HGNC:4268 biolink:NamedThing CBLIF tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904729 biolink:NamedThing regulation of intestinal lipid absorption Any process that modulates the frequency, rate or extent of intestinal lipid absorption. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013812 biolink:NamedThing Baraitser-winter syndrome 2 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene. tmpak2llvmy_mondo_relaxed.owl ACTG1 Baraitser-Winter cerebrofrontofacial syndrome|BRWS2|Baraitser-WINTER syndrome 2|Baraitser-winter syndrome 2|Baraitser-Winter syndrome type 2|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1 OMIM:614583|UMLS:C3281235 owl:Class NCBITaxon:5654 biolink:NamedThing Trypanosomatidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2704949 biolink:NamedThing Trypanosomatida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000248 biolink:NamedThing dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. tmpak2llvmy_mondo_relaxed.owl DSS MESH:D019595|UMLS:C0376300|SCTID:409671005|DOID:0050125 owl:Class MONDO:0005358 biolink:NamedThing Dengue hemorrhagic fever A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. tmpak2llvmy_mondo_relaxed.owl Dengue haemorrhagic fever|DHF SCTID:20927009|NCIT:C34683|EFO:0004227|ICD10:A91|DOID:12206 owl:Class MONDO:0013859 biolink:NamedThing cataract 38 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. tmpak2llvmy_mondo_relaxed.owl cataract type 38|CTRCT38|CATC5|cataract 38|AGK early-onset non-syndromic cataract|autosomal recessive congenital cataract 5|early-onset non-syndromic cataract caused by mutation in AGK|cataract, autosomal recessive congenital 5 ICD10:Q12.0|DOID:0110245|OMIM:614691|UMLS:C3553494 owl:Class HGNC:697 biolink:NamedThing ARL6IP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045779 biolink:NamedThing negative regulation of bone resorption Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. tmpak2llvmy_mondo_relaxed.owl downregulation of bone resorption|down regulation of bone resorption|down-regulation of bone resorption|inhibition of bone resorption owl:Class MONDO:0005164 biolink:NamedThing fibrosarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma of soft tissue|fibrosarcoma (disease)|fibrosarcoma (excluding infantile fibrosarcoma)|fibrocytic tumor|malignant fibromatous neoplasm|fibrosarcoma|fibrosarcoma - not infantile|fibrous tissue neoplasm|fibrosarcoma, malignant fibrosarcoma (disease) NCIT:C3043|ONCOTREE:FIBS|ICD9:171.9|DOID:3355|ICDO:8810/3|MedDRA:10016632|UMLS:C0016057|EFO:0002087|HP:0100244|SCTID:443250000|Orphanet:2030|GARD:0002327|ICD10:C49.9 owl:Class MONDO:0018362 biolink:NamedThing persistent idiopathic facial pain tmpak2llvmy_mondo_relaxed.owl AFP|atypical facial pain|PIFP ICD10:G50.1|Orphanet:398147 Editor note: TODO add HPO class owl:Class CL:0000047 biolink:NamedThing neuronal stem cell Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. tmpak2llvmy_mondo_relaxed.owl NSC|neural stem cell FMA:86684|BTO:0002881|CALOHA:TS-2360 cell owl:Class MONDO:0009666 biolink:NamedThing holocarboxylase synthetase deficiency Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. tmpak2llvmy_mondo_relaxed.owl early-onset multiple carboxylase deficiency|multiple carboxylase deficiency - neonatal onset|holocarboxylase synthetase deficiency|multiple carboxylase deficiency|neonatal multiple carboxylase deficiency|HLCS deficiency|multiple carboxylase deficiency, early onset|holocarboxylase synthase deficiency|multiple carboxylase deficiency, neonatal form|biotin-(propionyl-CoA-carboxylase) ligase deficiency MESH:D028922|ICD9:270.8|SCTID:15307001|ICD10:D81.818|OMIM:253270|UMLS:C0268581|SCTID:360369003|ICD10:E53.8|NCIT:C98842|Orphanet:79242|GARD:0002721|DOID:859 May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency owl:Class GO:0006259 biolink:NamedThing DNA metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. tmpak2llvmy_mondo_relaxed.owl cellular DNA metabolism|DNA metabolism owl:Class MONDO:0007276 biolink:NamedThing cat-eye syndrome Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. tmpak2llvmy_mondo_relaxed.owl CAT eye syndrome|Inv dup(22)(q11)|chromosome 22 partial tetrasomy|CES|Schmid-Fraccaro syndrome UMLS:C0265493|GARD:0000026|NCIT:C75477|MESH:C535918|OMIM:115470|ICD10:Q92.8|SCTID:26445008|Orphanet:195 https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome owl:Class MONDO:0006751 biolink:NamedThing Erysipelothrix infectious disease Infections with bacteria of the genus erysipelothrix. tmpak2llvmy_mondo_relaxed.owl Erysipelothrix caused disease or disorder|Erysipelothrix disease or disorder|infections, Erysipelothrix|infection, Erysipelothrix|Erysipelothrix infection EFO:1000927|SCTID:367434002|MESH:D004889|UMLS:C0014736 owl:Class HGNC:6149 biolink:NamedThing ITGAM tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006109 biolink:NamedThing regulation of carbohydrate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. tmpak2llvmy_mondo_relaxed.owl regulation of carbohydrate metabolism owl:Class MONDO:0018191 biolink:NamedThing tumor of testis and paratestis tmpak2llvmy_mondo_relaxed.owl testicular and paratesticular tumor Orphanet:363472|UMLS:CN204698 owl:Class GO:0090031 biolink:NamedThing positive regulation of steroid hormone biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2707 biolink:NamedThing ACE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018204 biolink:NamedThing 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. tmpak2llvmy_mondo_relaxed.owl dup(20)(q11.2) SCTID:763061004|ICD10:Q93.5|UMLS:CN204718|Orphanet:363659 owl:Class HGNC:12783 biolink:NamedThing WNT4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000093 biolink:NamedThing sulcus A depression or fissure in the surface of an organ. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002877 biolink:NamedThing cervical carcinosarcoma A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma. tmpak2llvmy_mondo_relaxed.owl cervical malignant Mullerian mixed tumor|malignant Müllerian mixed tumor of the cervix uteri|cervical malignant Müllerian mixed tumor|cervical malignant mixed Mullerian tumor|cervical malignant mixed mesodermal (Mullerian) tumor|malignant Mullerian mixed tumor of the cervix uteri|carcinosarcoma of the cervix uteri|uterine cervix carcinosarcoma|cervical mixed epithelial and mesenchymal neoplasm|cervical carcinosarcoma|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant mixed mesodermal mullerian tumor NCIT:C36097|UMLS:C1332917|UMLS:C1516420|SCTID:764951002|ICD10:C53|UMLS:CN201068|Orphanet:213787|DOID:4112 owl:Class MONDO:0006682 biolink:NamedThing brachial plexus neuritis An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. tmpak2llvmy_mondo_relaxed.owl brachial nerve plexus neuritis|acute brachial neuritis|parsonage-Aldren-Turner syndrome|parsonage Turner syndrome|neuritis of brachial nerve plexus|acute shoulder neuritis|acute brachial radiculitis syndrome|acute brachial neuritis syndrome|brachial neuritis|idiopathic neuralgic amyotrophy DOID:3689|SCTID:72893007|GARD:0004228|MedDRA:10073002|ICD10:G54.5|NCIT:C84600|ICD9:723.4|EFO:1000843|MESH:D020968 owl:Class MONDO:0024611 biolink:NamedThing orbit neoplasm A benign or malignant neoplasm that affects the orbit. tmpak2llvmy_mondo_relaxed.owl orbital tumor|orbital neoplasms|orbital neoplasm|tumor of the orbit|neoplasm of orbit of skull|neoplasm of the orbit|orbit of skull neoplasm|orbit tumor|tumor of orbit of skull|neoplasm of orbit|orbit neoplasm|tumor of orbit|orbit of skull tumor NCIT:C3290 owl:Class MONDO:0011534 biolink:NamedThing Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 4G|HMSNR|Charcot-Marie-Tooth neuropathy, type 4G|CMT4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth disease, type 4G|HK1 Charcot-Marie-Tooth disease type 4|autosomal recessive Charcot-Marie-Tooth disease type 4G|hereditary motor and sensory neuropathy Russe type|hereditary motor and sensory neuropathy, Russe type|neuropathy, hereditary motor and sensory, Russe type OMIM:605285|MESH:C535813|DOID:0110196|UMLS:C1854449|ICD10:G60.0|GARD:0010132|SCTID:715799004|Orphanet:99953 owl:Class MONDO:0015004 biolink:NamedThing dystonia 28, childhood-onset Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. tmpak2llvmy_mondo_relaxed.owl KMT2B dystonic disorder|dystonia 28, childhood-onset|dystonia 28, childhood-onset; DYT28|dystonic disorder caused by mutation in KMT2B|DYT28 Orphanet:589618|UMLS:C4310633|OMIM:617284 owl:Class NCBITaxon:12103 biolink:NamedThing Cardiovirus tmpak2llvmy_mondo_relaxed.owl Cardioviruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0036441 biolink:NamedThing wall of uterine tube tmpak2llvmy_mondo_relaxed.owl uterine tube wall|wall of fallopian tube|wall of oviduct owl:Class MONDO:0005272 biolink:NamedThing refractory anemia A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl aregenerative anemia|RA MESH:D000753|EFO:0003802|ICD9:238.72|MedDRA:10038269|ICDO:9980/3|Orphanet:98826|ICD10:D46.7|UMLS:C0002893|NCIT:C2872|SCTID:109996008 owl:Class MONDO:0015601 biolink:NamedThing X-linked intellectual disability, van Esch type X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type|Van Esch-O'Driscoll syndrome|VEODS SCTID:718914002|UMLS:CN226711|OMIM:301030|ICD10:Q87.8|Orphanet:163976 owl:Class MONDO:0023214 biolink:NamedThing gas bloat syndrome tmpak2llvmy_mondo_relaxed.owl post-fundoplication syndrome UMLS:C2930966|MESH:C535647|GARD:0006484 https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome owl:Class MONDO:0016450 biolink:NamedThing autoimmune hemolytic anemia, cold type Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH). tmpak2llvmy_mondo_relaxed.owl cAIHA|cold AIHA|cAHA ICD10:D59.1|Orphanet:228312|UMLS:CN201401 owl:Class MONDO:0010993 biolink:NamedThing Harrod syndrome Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. tmpak2llvmy_mondo_relaxed.owl craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome|Harrod syndrome|Harrod Doman Keele syndrome Orphanet:2115|MESH:C535635|GARD:0002601|OMIM:601095|UMLS:C0795970|ICD10:Q87.8|SCTID:716089008 owl:Class CHEBI:35488 biolink:NamedThing central nervous system depressant A loosely defined group of drugs that tend to reduce the activity of the central nervous system. tmpak2llvmy_mondo_relaxed.owl central nervous system depressants|CNS depressants owl:Class MONDO:0023579 biolink:NamedThing Kuster Majewski Hammerstein syndrome tmpak2llvmy_mondo_relaxed.owl alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation UMLS:C2931740|MESH:C538125|GARD:0003151 Editor note: consider merging with MONDO:0021849 https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome owl:Class MONDO:0001351 biolink:NamedThing uterine adnexa cancer tmpak2llvmy_mondo_relaxed.owl DOID:11747|ICD9:183|ICD10:C57.4|ICD9:183.9 Editor note: TODO add uberon class owl:Class MONDO:0005416 biolink:NamedThing osteoarthritis, knee Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) tmpak2llvmy_mondo_relaxed.owl EFO:0004616|MESH:D020370 owl:Class MONDO:0032755 biolink:NamedThing neurodevelopmental disorder with or without variable brain abnormalities; NEDBA tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES|NEDBA OMIM:618443 owl:Class MONDO:0008418 biolink:NamedThing scleroderma, familial progressive tmpak2llvmy_mondo_relaxed.owl systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive OMIM:181750|UMLS:C1866983 owl:Class UBERON:0007175 biolink:NamedThing inferior angle of scapula An angle of the scapula formed by the union of the vertebral and axillary borders; its dorsal surface affords attachment to the Teres major and frequently to a few fibers of the Latissimus dorsi.[WP,unvetted] tmpak2llvmy_mondo_relaxed.owl angulus inferior scapulae|angulus inferior (scapula) owl:Class MONDO:0008019 biolink:NamedThing mullerian aplasia and hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. tmpak2llvmy_mondo_relaxed.owl WNT4 deficiency|mullerian aplasia and hyperandrogenism|Müllerian duct failure and hyperandrogenism|Mullerian duct failure and hyperandrogenism|Müllerian aplasia and hyperandrogenism DOID:0111526|Orphanet:247768|OMIM:158330|MESH:C567186|NCIT:C120376|ICD10:Q51.8|UMLS:C2675014 owl:Class MONDO:0003504 biolink:NamedThing anal canal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl anus neuroendocrine tumor|neuroendocrine neoplasm of anal canal|anal canal neuroendocrine tumor|anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|anal canal neuroendocrine neoplasm|anus neuroendocrine neoplasm|neuroendocrine neoplasm of anus|anal canal NET|anal neuroendocrine tumor|anal neuroendocrine neoplasm|neuroendocrine neoplasm of the anus|neuroendocrine tumor of anus DOID:5545|SCTID:717917007|NCIT:C5603 owl:Class CHEBI:24834 biolink:NamedThing inorganic anion tmpak2llvmy_mondo_relaxed.owl inorganic anions owl:Class MONDO:0012290 biolink:NamedThing CEDNIK syndrome CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. tmpak2llvmy_mondo_relaxed.owl cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome DOID:0060337|UMLS:C1836033|MESH:C537943|GARD:0009940|Orphanet:66631|OMIM:609528|ICD10:Q82.8|SCTID:722385008 owl:Class MONDO:0018824 biolink:NamedThing pyoderma gangrenosum Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. tmpak2llvmy_mondo_relaxed.owl SCTID:74578003|Orphanet:48104|DOID:8553|GARD:0007510|EFO:0006835|ICD10:L88|MESH:D017511|MedDRA:10037635|ICD9:686.01|UMLS:C0085652 https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum owl:Class MONDO:0004774 biolink:NamedThing gonococcal iridocyclitis An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease) SCTID:9091006|DOID:9384|ICD9:098.41|UMLS:C0153212|ICD10:A54.32 owl:Class SO:0001785 biolink:NamedThing structural_alteration An alteration of the genome that leads to a change in the structure of one or more chromosomes. tmpak2llvmy_mondo_relaxed.owl structural alteration owl:Class UBERON:0035805 biolink:NamedThing muscle layer of sigmoid colon A muscle layer that is part of the sigmoid colon tmpak2llvmy_mondo_relaxed.owl sigmoid colon muscularis propria|tunica muscularis colon sigmoideum|muscularis externa of sigmoid colon|sigmoideum muscularis|muscularis propria of sigmoid colon owl:Class HGNC:757 biolink:NamedThing ASPH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013495 biolink:NamedThing autosomal recessive congenital ichthyosis 8 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene. tmpak2llvmy_mondo_relaxed.owl ARCI8|lamellar ichthyosis 4|ichthyosis, congenital, autosomal recessive 8|autosomal recessive congenital ichthyosis type 8|late-onset lamellar ichthyosis|lamellar ichthyosis, late-onset|ichthyosis, lamellar, 4|ichthyosis, lamellar, 4, formerly|ichthyosis, congenital, autosomal recessive type 8 OMIM:613943|ICD10:Q80.2|DOID:0060717 owl:Class CHEBI:35605 biolink:NamedThing carbon oxoacid tmpak2llvmy_mondo_relaxed.owl carbon oxoacids|oxoacids of carbon owl:Class CHEBI:86327 biolink:NamedThing antifungal drug Any antifungal agent used to prevent or treat fungal infections in humans or animals. tmpak2llvmy_mondo_relaxed.owl anti-fungal medication|antifungal medications|pharmaceutical fungicide|antifungal medication|anti-fungal drug|pharmaceutical fungicides|anti-fungal drugs|antifungal drugs|anti-fungal medications owl:Class NCBITaxon:8022 biolink:NamedThing Oncorhynchus mykiss tmpak2llvmy_mondo_relaxed.owl rainbow trout|Salmo mykiss|Parasalmo mykiss|Oncorhynchus nerka mykiss GC_ID:1 NCBITaxon:1311475 ncbi_taxonomy owl:Class CHEBI:24833 biolink:NamedThing oxoacid A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpak2llvmy_mondo_relaxed.owl oxiacids|oxy-acids|oxoacids|oxyacids|oxacids|oxoacid|oxo acid owl:Class GO:0042101 biolink:NamedThing T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. tmpak2llvmy_mondo_relaxed.owl TCR|T lymphocyte receptor complex|T-cell receptor complex|TCR complex|T-lymphocyte receptor complex owl:Class MONDO:0021469 biolink:NamedThing benign neoplasm of anus A benign neoplasm that involves the anus. tmpak2llvmy_mondo_relaxed.owl benign anal neoplasm|benign tumor of anus|benign tumor of the anus|benign anal tumor|benign neoplasm of the anus|anus benign neoplasm UMLS:C0347276|NCIT:C4611|SCTID:91978004 owl:Class MONDO:0021932 biolink:NamedThing infection by Trypanosoma gambiense Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. tmpak2llvmy_mondo_relaxed.owl Gambiense trypanosomiasis infection|Gambian trypanosomiasis|chronic sleeping sickness|Infection caused by Trypanosoma gambiense|Infection by Trypanosoma gambiense|Gambian sleeping sickness SCTID:75809006|NCIT:C35084|GARD:0008540|ICD9:086.3|UMLS:C0041232 owl:Class MONDO:0005722 biolink:NamedThing croup Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. tmpak2llvmy_mondo_relaxed.owl acute laryngotracheitis|acute laryngotracheobronchitis|acute obstructive laryngitis|croup syndrome MESH:D003440|ICD9:464.4|DOID:9395|SCTID:71186008|NCIT:C26735|UMLS:C0010380|EFO:0007227|ICD10:J05.0 owl:Class MONDO:0004777 biolink:NamedThing acute laryngitis An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpak2llvmy_mondo_relaxed.owl laryngitis|laryngitis, acute ICD9:464.01|SCTID:6655004|DOID:9396|NCIT:C26688|ICD9:464.00|ICD10:J04.0|ICD9:464.0|UMLS:C0001327 owl:Class MONDO:0043919 biolink:NamedThing radiation pneumonitis Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. tmpak2llvmy_mondo_relaxed.owl radiation fibrosis|pneumonitis, radiation|Pneumonias, radiation|radiation pneumonitis|fibrosis, radiation|Pneumonitides, radiation|pneumonia, radiation|radiation pneumonia|radiation Pneumonias|pulmonary radiation alveolitis|radiation Pneumonitides SCTID:84004001|EFO:0008517|MESH:D017564 owl:Class MONDO:0020937 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:178110 owl:Class MONDO:0016815 biolink:NamedThing Leigh syndrome with leukodystrophy tmpak2llvmy_mondo_relaxed.owl Leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy Orphanet:255241|UMLS:CN202083|ICD10:G31.8 owl:Class MONDO:0009723 biolink:NamedThing Leigh syndrome Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. tmpak2llvmy_mondo_relaxed.owl infantile subacute necrotizing encephalopathy|infantile necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 4 deficiency|subacute necrotizing encephalopathy|SNE|Leigh disease|Leigh syndrome due to mitochondrial Complex 1 deficiency|subacute necrotizing encephalomyelopathy|LS|juvenile subacute necrotizing encephalomyelopathy|Leigh syndrome|Leigh syndrome due to mitochondrial Complex 5 deficiency|Leigh's disease|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh's necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 3 deficiency ICD9:330.8|MedDRA:10062950|ICD10:G31.82|DOID:3652|SCTID:29570005|MESH:D007888|OMIM:256000|ICD10:G31.8|GARD:0006877|UMLS:C0023264|NCIT:C84814|Orphanet:506 owl:Class MONDO:0033367 biolink:NamedThing developmental and epileptic encephalopathy, 58 tmpak2llvmy_mondo_relaxed.owl EIEE58|DEE58|epileptic encephalopathy, early infantile, 58|infantile epileptic encephalopathy 58 DOID:0080285|OMIM:617830|UMLS:CN757795 owl:Class MONDO:0009178 biolink:NamedThing epidermolysis bullosa dystrophica Neurotrophica tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness|epidermolysis bullosa progressiva, recessive ICD9:757.39|MESH:C562637|SCTID:254176007|OMIM:226500 owl:Class MONDO:0002982 biolink:NamedThing peripheral primitive neuroectodermal tumor of soft tissues A small round cell tumor with neural differentiation arising from the soft tissues. tmpak2llvmy_mondo_relaxed.owl peripheral neuroepithelioma of soft tissues|peripheral neuroepithelioma of the soft tissues|peripheral neuroectodermal tumor of soft tissues|peripheral primitive neuroectodermal tumor of soft tissues|soft tissue peripheral neuroepithelioma|peripheral neuroectodermal tumor of the soft tissues NCIT:C27471|DOID:4389|UMLS:C1112437 owl:Class GO:0031349 biolink:NamedThing positive regulation of defense response Any process that activates or increases the frequency, rate or extent of a defense response. tmpak2llvmy_mondo_relaxed.owl stimulation of defense response|up regulation of defense response|up-regulation of defense response|activation of defense response|upregulation of defense response owl:Class UBERON:0010390 biolink:NamedThing lumen of urethra An organ cavity that is part of a urethra. tmpak2llvmy_mondo_relaxed.owl urethral lumen owl:Class MONDO:0021765 biolink:NamedThing radiculitis An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. tmpak2llvmy_mondo_relaxed.owl Radiculitis|Inflammation, Nerve Root|radiculitis|Radiculitides|Nerve Root Inflammations|Nerve Root Inflammation ICD9:729.2|NCIT:C78581|UMLS:C0034544|SCTID:82473003 owl:Class MONDO:0007212 biolink:NamedThing brachydactyly-long thumb syndrome Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981. tmpak2llvmy_mondo_relaxed.owl brachydactyly long thumb type|long-thumb brachydactyly syndrome|brachydactyly, long thumb type|brachydactyly, long-thumb type ICD10:Q87.2|Orphanet:2946|GARD:0000968|UMLS:C1862169|MESH:C566204|OMIM:112430|SCTID:733454004 https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type owl:Class MONDO:0015941 biolink:NamedThing epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl Finucane Kurtz Scott syndrome|Finucane-Kurtz-Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism Orphanet:1825|UMLS:CN200532|SCTID:766870005|ICD10:Q87.0|GARD:0002178 https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism owl:Class MONDO:0015826 biolink:NamedThing autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spondylocostal dysplasia|spondylocostal dysostosis, autosomal dominant SCTID:716232002|UMLS:CN200437|Orphanet:1797|ICD10:Q76.4|UMLS:C4274761 owl:Class HP:0002204 biolink:NamedThing Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl Blood clot in artery of lung UMLS:C0034065|MSH:D011655|SNOMEDCT_US:59282003 human_phenotype owl:Class UBERON:0006538 biolink:NamedThing respiratory system fluid/secretion A portion of organism substance that secreted_by a respiratory system. tmpak2llvmy_mondo_relaxed.owl respiratory system secretion|respiratory system fluid owl:Class MONDO:0023102 biolink:NamedThing facio skeletal genital syndrome rippberger type tmpak2llvmy_mondo_relaxed.owl Ripperger Aase syndrome GARD:0002227 https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type owl:Class ECTO:0010002 biolink:NamedThing exposure to environmental process quality A exposure event involving the interaction of an exposure receptor to process quality. tmpak2llvmy_mondo_relaxed.owl process quality exposure owl:Class MONDO:0044982 biolink:NamedThing drug pseudoallergy tmpak2llvmy_mondo_relaxed.owl drug pseudoallergy|drug allergy SCTID:609398007|UMLS:C3662272 owl:Class MONDO:0044981 biolink:NamedThing pseudoallergy tmpak2llvmy_mondo_relaxed.owl pseudoallergy to substance SCTID:609397002|UMLS:C3662273|ICD9:V15.09 owl:Class MONDO:0004592 biolink:NamedThing impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. tmpak2llvmy_mondo_relaxed.owl ICD10:L01.0|EFO:1000714|UMLS:C0021099|MESH:D007169|NCIT:C99088|ICD10:L01.00|DOID:8504|ICD9:684|ICD10:L01|SCTID:48277006 owl:Class GO:1903706 biolink:NamedThing regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis. tmpak2llvmy_mondo_relaxed.owl regulation of haemopoiesis|regulation of hematopoiesis|regulation of blood cell biosynthesis|regulation of blood cell formation owl:Class MONDO:0017028 biolink:NamedThing secondary interstitial lung disease specific to adulthood associated with a systemic disease tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to adulthood associated with a systemic disease 2022-03-01 UMLS:CN202340|Orphanet:264745 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0009398 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 1 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. tmpak2llvmy_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome type 1|glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with intellectual disability syndrome 1|hyperphosphatasia with mental retardation syndrome type 1|HPMRS1|Mabry syndrome|hyperphosphatasia with mental retardation syndrome 1|PIGV hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV OMIM:239300|UMLS:CN030519 owl:Class MONDO:0016596 biolink:NamedThing hyperphosphatasia-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome|HPMR|hyperphosphatasia with mental retardation syndrome|Mabry syndrome UMLS:C1855923|SCTID:33982008|OMIMPS:239300|Orphanet:247262 owl:Class MONDO:0007246 biolink:NamedThing calcific aortic disease with immunologic abnormalities, familial tmpak2llvmy_mondo_relaxed.owl calcific aortic disease with immunologic abnormalities, familial OMIM:114065|MESH:C566182|UMLS:C1861974 owl:Class HGNC:17967 biolink:NamedThing IRAK4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021061 biolink:NamedThing neurofibromatosis A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. tmpak2llvmy_mondo_relaxed.owl acoustic neurofibromatosis|neurofibromatosis syndrome|peripheral Neurofibromatosis|neurofibromatosis|type IV neurofibromatosis of riccardi|von Reklinghausen disease|Recklinghausen's neurofibromatosis|central Neurofibromatosis|neurofibromatosis type 2|neurofibromatosis type 4|neurofibromatosis type IV NCIT:C6727|MESH:D017253|ICD10:Q85.01|ICDO:9540/1|GARD:0010420|ICD10:Q85.00|ICD9:237.71|ICD9:237.70|ICD9:237.72|ICD9:237.7|UMLS:C0162678|ICD10:Q85.02|DOID:8712|SCTID:19133005 owl:Class MONDO:0019121 biolink:NamedThing pneumocystosis Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. tmpak2llvmy_mondo_relaxed.owl PCP|Pneumocystis carinii pneumonia|pulmonary pneumocystosis|PJP|Pneumocystis|pneumocystosis|Pneumocystis jirovecii pneumonia|Pneumocystis pneumonia|pneumocystosis pneumonia UMLS:C1535939|Orphanet:723|SCTID:415125002|ICD10:J17.3*|DOID:11339|MESH:D011020|ICD10:B59+|EFO:0007448|ICD10:B59|GARD:0004386|NCIT:C3334|ICD9:136.3 https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis owl:Class CL:0002616 biolink:NamedThing perirenal adipocyte cell A fat cell of perirenal fat tissue. tmpak2llvmy_mondo_relaxed.owl perirenal fat cell tmeehan 2011-03-14T10:17:05Z cell owl:Class CL:0000136 biolink:NamedThing fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. tmpak2llvmy_mondo_relaxed.owl adipose cell|adipocyte FMA:63880|CALOHA:TS-0012|BTO:0000443 CL:0000450 cell owl:Class HGNC:3495 biolink:NamedThing ETV6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021826 biolink:NamedThing aerobic Actinomyces infection Infection with the less common aerobic antinomyces bacteria. tmpak2llvmy_mondo_relaxed.owl MESH:C538054|UMLS:C2931717|GARD:0009779 https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection owl:Class MONDO:0006537 biolink:NamedThing conjunctival pigmentation Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron. tmpak2llvmy_mondo_relaxed.owl ICD10:H11.13|ICD9:372.55|DOID:12304|UMLS:C0155163|EFO:1000682|SCTID:66081003 owl:Class MONDO:0011160 biolink:NamedThing autosomal recessive nonsyndromic deafness 15 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 15|autosomal recessive deafness 95|DFNB15|deafness, autosomal recessive 95|GIPC3 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 15|DFNB95|deafness, autosomal recessive 15|autosomal recessive nonsyndromic deafness 15|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3|deafness, autosomal recessive 72|deafness, autosomal recessive type 15|autosomal recessive deafness 72|DFNB72 UMLS:C1866094|MESH:C566611|ICD10:H90.3|DOID:0110470|OMIM:601869 owl:Class CL:1000682 biolink:NamedThing kidney medulla interstitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001092 cell owl:Class CL:1000504 biolink:NamedThing kidney medulla cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001017 cell owl:Class MONDO:0013640 biolink:NamedThing familial retinal arterial macroaneurysm tmpak2llvmy_mondo_relaxed.owl retinal arterial macroaneurysm with supravalvular pulmonic stenosis|RAMSVPS|Fram|retinal arterial macroaneurysm and supravalvular pulmonic stenosis UMLS:C3280205|GARD:0012779|SCTID:764452004|OMIM:614224|Orphanet:284247 owl:Class MONDO:0020458 biolink:NamedThing hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. tmpak2llvmy_mondo_relaxed.owl adenosine deaminase, elevated, hemolytic anemia due to UMLS:CN207319|UMLS:C1863235|OMIM:102730|ICD10:D55.3|MESH:C566314|Orphanet:99138 owl:Class MONDO:0011275 biolink:NamedThing acromesomelic dysplasia, Maroteaux type A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. tmpak2llvmy_mondo_relaxed.owl St. Helena dysplasia|acromesomelic dwarfism Maroteux type|AMDM|acromesomelic dysplasia Maroteaux type|acromesomelic dysplasia, Maroteaux type GARD:0000507|OMIM:602875|ICD10:Q77.8|Orphanet:40|MESH:C535661|DOID:0080050|SCTID:718559000 https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type owl:Class MONDO:0011363 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 3 tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, 3|diabetes mellitus, noninsulin-dependent, type 3|NIDDM3|noninsulin-dependent diabetes mellitus 3 UMLS:C1863594|MESH:C566342|OMIM:603694 owl:Class MONDO:0007901 biolink:NamedThing levator-medial rectus synkinesis tmpak2llvmy_mondo_relaxed.owl levator-medial rectus synkinesis|oculomotor-levator synkinesis OMIM:151610|UMLS:C1835403|MESH:C563625 owl:Class MONDO:0002817 biolink:NamedThing adrenal gland cancer A malignant neoplasm involving the adrenal gland tmpak2llvmy_mondo_relaxed.owl adrenal gland cancer|malignant tumor of adrenal gland|malignant adrenal tumor|malignant adrenal neoplasm|malignant neoplasm of the adrenal gland|adrenal cancer|malignant tumor of the adrenal gland|malignant neoplasm of adrenal gland|malignant adrenal gland neoplasm|malignant adrenal gland tumor|tumor of the adrenal gland|cancer of adrenal gland|adrenal neoplasm ICD10:C74|ICD9:239.7|NCIT:C9338|SCTID:127021009|GARD:0005751|DOID:3953|ICD9:194.0|ICD10:C74.9|MESH:D000310 owl:Class MONDO:0060745 biolink:NamedThing intellectual developmental disorder with or without epilepsy or cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl IDDECA|intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060|UMLS:CN252646 owl:Class MONDO:0012131 biolink:NamedThing metaphyseal undermodeling, spondylar dysplasia, and overgrowth tmpak2llvmy_mondo_relaxed.owl overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome|metaphyseal undermodeling, spondylar dysplasia, and overgrowth OMIM:608811|MESH:C537355|GARD:0010066|UMLS:C1837316|Orphanet:498485 https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth owl:Class HGNC:19714 biolink:NamedThing DDHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010417 biolink:NamedThing syndromic X-linked intellectual disability Najm type Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. tmpak2llvmy_mondo_relaxed.owl intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|MICPCH|mental retardation, X-linked, syndromic, Najm type|syndromic X-linked intellectual disability Najm type|mental retardation and microcephaly with pontine and cerebellar hypoplasia|intellectual disability, X-linked, syndromic, Najm type|Micpch syndrome|X-linked intellectual disability, Najm type OMIM:300749|Orphanet:163937|UMLS:C2677903|ICD10:Q04.3|GARD:0012669|MESH:C567466|DOID:0060807 owl:Class GO:0032109 biolink:NamedThing positive regulation of response to nutrient levels Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. tmpak2llvmy_mondo_relaxed.owl upregulation of response to nutrient levels|activation of response to nutrient levels|up regulation of response to nutrient levels|stimulation of response to nutrient levels|up-regulation of response to nutrient levels owl:Class MONDO:0021060 biolink:NamedThing RASopathy Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. tmpak2llvmy_mondo_relaxed.owl Ras protein signal transduction disease|RASopathy|disorder of Ras protein signal transduction EFO:1001502|Orphanet:536391 owl:Class MONDO:0023567 biolink:NamedThing Kozlowski Brown Hardwick syndrome tmpak2llvmy_mondo_relaxed.owl unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus MESH:C537506|GARD:0003136|UMLS:C2931511 https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome owl:Class CL:0002597 biolink:NamedThing smooth muscle cell of bladder A smooth muscle cell of the bladder. tmpak2llvmy_mondo_relaxed.owl KUPO:0001122 tmeehan 2011-03-06T05:43:24Z cell owl:Class CL:1001319 biolink:NamedThing bladder cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001120 cell owl:Class MONDO:0015077 biolink:NamedThing adrenal/paraganglial tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:100091|UMLS:CN197370 Editor note: consider merging owl:Class CL:0002144 biolink:NamedThing capillary endothelial cell An endothelial cell found in capillaries. tmpak2llvmy_mondo_relaxed.owl FMA:67756|CALOHA:TS-0112|BTO:0004956 tmeehan 2010-08-24T10:15:00Z cell owl:Class MONDO:0008879 biolink:NamedThing Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. tmpak2llvmy_mondo_relaxed.owl Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome|Bowen-Conradi syndrome|BWCNS|Bowen-Conradi Hutterite syndrome|Bowen syndrome, Hutterite type|Bowen Hutterite syndrome (formerly) OMIM:211180|MESH:C537081|Orphanet:1270|SCTID:711153001|ICD9:759.89|UMLS:C1859405|GARD:0005950|DOID:0050684|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome owl:Class UBERON:0000341 biolink:NamedThing throat In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl gula owl:Class MONDO:0032699 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 15 tmpak2llvmy_mondo_relaxed.owl EIG15|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 DOID:0111316|OMIM:618357 owl:Class GO:0030593 biolink:NamedThing neutrophil chemotaxis The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1990266 biolink:NamedThing neutrophil migration The movement of a neutrophil within or between different tissues and organs of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012116 biolink:NamedThing Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormal albumin level UMLS:C4023036 hecht 2012-09-16T05:14:53Z human_phenotype owl:Class HP:0010876 biolink:NamedThing Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. tmpak2llvmy_mondo_relaxed.owl Serum protein abnormality|Blood protein disease|Abnormal circulating protein level|Abnormality of circulating protein level UMLS:C4023679|UMLS:C4020763|UMLS:C4020764 peter 2010-09-07T01:51:12Z human_phenotype owl:Class GO:1905939 biolink:NamedThing regulation of gonad development Any process that modulates the frequency, rate or extent of gonad development. tmpak2llvmy_mondo_relaxed.owl regulation of gonadogenesis owl:Class MONDO:0003316 biolink:NamedThing nonanaplastic kidney Wilms tumor Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. tmpak2llvmy_mondo_relaxed.owl nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilm's tumor|Nonanaplastic kidney Wilms tumor|Nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilms' tumor NCIT:C6951|UMLS:C1335062 owl:Class HP:0000238 biolink:NamedThing Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. tmpak2llvmy_mondo_relaxed.owl Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly UMLS:C0020255|MSH:D006849|SNOMEDCT_US:230745008 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. HP:0007189|HP:0008503 human_phenotype owl:Class HP:0002921 biolink:NamedThing Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). tmpak2llvmy_mondo_relaxed.owl Abnormality of the CSF|Abnormal CSF findings UMLS:C0151583 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). human_phenotype owl:Class UBERON:8410045 biolink:NamedThing artery of appendix An artery that is part of a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl artery of appendix vermiformis|artery of vermiform appendix owl:Class GO:0016409 biolink:NamedThing palmitoyltransferase activity Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007319 biolink:NamedThing chondrocalcinosis 2 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). tmpak2llvmy_mondo_relaxed.owl calcium pyrophosphate arthropathy|familial CPPD|hereditary CC|hereditary articular chondrocalcinosis|Pseudogout, familial|familial CC|calcium gout|chondrocalcinosis type 2|CCAL2|calcium pyrophosphate dihydrate deposition disease|chondrocalcinosis 2|CPPDD|hereditary calcium pyrophosphate deposition|chondrocalcinosis, familial articular|familial calcium pyrophosphate deposition|chondrocalcinosis familial articular|calcium pyrophosphate arthropathy, familial|familial articular chondrocalcinosis|calcium gout, familial|familial calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate dihydrate crystal deposition disease ICD10:M11.1|GARD:0001292|UMLS:CN199517|OMIM:118600|Orphanet:1416|MESH:C563162 owl:Class MONDO:0018197 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebrorenal form tmpak2llvmy_mondo_relaxed.owl mtDNA depletion syndrome, hepatocerebrorenal form UMLS:CN204706|Orphanet:363534|ICD10:E88.8 owl:Class MONDO:0016808 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebral form tmpak2llvmy_mondo_relaxed.owl mtDNA depletion syndrome, hepatocerebral form|deoxyguanosine kinase deficiency Orphanet:254871|MESH:C580039|UMLS:CN069134|UMLS:C3711385 Editor note: consider merging with MONDO:0014943 owl:Class GO:1904775 biolink:NamedThing positive regulation of ubiquinone biosynthetic process Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process. tmpak2llvmy_mondo_relaxed.owl activation of ubiquinone formation|up-regulation of ubiquinone formation|positive regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q6 biosynthetic process|up-regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone formation|up regulation of coenzyme Q8 biosynthetic process|upregulation of coenzyme Q9 biosynthesis|up regulation of coenzyme Q8 biosynthesis|positive regulation of coenzyme Q10 biosynthetic process|activation of coenzyme Q8 biosynthesis|upregulation of ubiquinone anabolism|up-regulation of ubiquinone synthesis|up regulation of coenzyme Q10 biosynthetic process|upregulation of ubiquinone biosynthetic process|up-regulation of coenzyme Q biosynthesis|up regulation of coenzyme Q biosynthetic process|upregulation of ubiquinone formation|up-regulation of coenzyme Q10 biosynthetic process|activation of coenzyme Q8 biosynthetic process|up regulation of coenzyme Q6 biosynthetic process|positive regulation of coenzyme Q8 biosynthetic process|up-regulation of coenzyme Q8 biosynthetic process|upregulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q8 biosynthesis|up regulation of coenzyme Q biosynthesis|activation of coenzyme Q biosynthesis|activation of coenzyme Q9 biosynthesis|activation of coenzyme Q6 biosynthesis|up regulation of ubiquinone formation|up-regulation of ubiquinone biosynthetic process|up regulation of ubiquinone synthesis|activation of coenzyme Q10 biosynthesis|activation of ubiquinone biosynthesis|up regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone biosynthetic process|up-regulation of coenzyme Q biosynthetic process|up regulation of ubiquinone biosynthesis|upregulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q9 biosynthetic process|up regulation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthetic process|activation of coenzyme Q biosynthetic process|positive regulation of ubiquinone anabolism|activation of coenzyme Q10 biosynthetic process|activation of coenzyme Q9 biosynthetic process|activation of ubiquinone synthesis|activation of coenzyme Q6 biosynthetic process|positive regulation of coenzyme Q6 biosynthesis|upregulation of coenzyme Q biosynthesis|upregulation of ubiquinone biosynthesis|up-regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q10 biosynthesis|up-regulation of ubiquinone anabolism|upregulation of coenzyme Q8 biosynthetic process|up-regulation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q6 biosynthesis|up-regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q10 biosynthesis|upregulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q9 biosynthetic process|upregulation of ubiquinone synthesis|up-regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthesis|activation of ubiquinone anabolism|positive regulation of ubiquinone synthesis|up regulation of coenzyme Q10 biosynthesis|upregulation of coenzyme Q6 biosynthetic process|up-regulation of coenzyme Q9 biosynthesis|upregulation of coenzyme Q8 biosynthesis|up regulation of ubiquinone biosynthetic process|up regulation of ubiquinone anabolism owl:Class MONDO:0018164 biolink:NamedThing arterial thoracic outlet syndrome Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. tmpak2llvmy_mondo_relaxed.owl ATOS|arterial TOS|arterial scalenus anticus syndrome|arterial costoclavicular syndrome|arterial thoracic outlet compression syndrome|arterial hyperabduction syndrome|arterial cervical rib syndrome UMLS:C1956395|SCTID:8051000119105|Orphanet:357107|ICD10:G54.0 owl:Class MONDO:0005979 biolink:NamedThing thoracic outlet syndrome A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. tmpak2llvmy_mondo_relaxed.owl TOS - thoracic outlet syndrome|thoracic outlet compression syndrome|TOS MedDRA:10048627|NCIT:C85188|DOID:3103|MESH:D013901|UMLS:C0039984|Orphanet:97330|EFO:0007507|SCTID:128210009|ICD10:G54.0 owl:Class MONDO:0007315 biolink:NamedThing cherubism Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. tmpak2llvmy_mondo_relaxed.owl familial fibrous dysplasia of the jaws|CRBM|familial multilocular cystic disease of the jaws|Crbm|cherubism UMLS:C0008029|ICD9:526.89|NCIT:C84630|OMIM:118400|ICD10:M27.8|ICD10:K10.8|Orphanet:184|MESH:D002636|GARD:0006036|MedDRA:10070535|SCTID:76098004|DOID:1856 https://rarediseases.info.nih.gov/diseases/6036/cherubism owl:Class UBERON:0010188 biolink:NamedThing protuberance A roughly circular bulge in a surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002570 biolink:NamedThing high pressure neurological syndrome A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. tmpak2llvmy_mondo_relaxed.owl DOID:3230|MESH:D006610|UMLS:C0019537 owl:Class MONDO:0005524 biolink:NamedThing sweat gland carcinoma A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl sweat gland carcinoma|sweat gland carcinoma/apocrine eccrine carcinoma|carcinoma of sweat gland|carcinoma, sweat gland, malignant|carcinoma of the sweat gland UMLS:C1412016|ICDO:8400/3|ONCOTREE:AECA|NCIT:C6938|EFO:0005591|DOID:5667 owl:Class MONDO:0016365 biolink:NamedThing familial primary hyperparathyroidism An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary primary hyperparathyroidism (disease) UMLS:CN201220|GARD:0002837|Orphanet:2207|ICD10:E21.0 owl:Class HGNC:1673 biolink:NamedThing CD3D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700000 biolink:NamedThing ALG9-associated autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. tmpak2llvmy_mondo_relaxed.owl ALG9-associated ADPKD|autosomal dominant polycystic kidney disease caused by mutation in ALG9|ALG9 autosomal dominant polycystic kidney disease|ALG9 related autosomal dominant polycystic kidney disease|ALG9-associated autosomal dominant polycystic kidney disease http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001751 biolink:NamedThing cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. tmpak2llvmy_mondo_relaxed.owl obstruction of bile duct|bile occlusion SCTID:30144000|UMLS:C0008370|ICD10:K83.1|ICD9:576.2|DOID:13580|MESH:D002779 owl:Class MONDO:0002887 biolink:NamedThing bile duct disease A disease involving the bile duct. tmpak2llvmy_mondo_relaxed.owl disease or disorder of bile duct|disorder of bile duct|bile duct disorder|bile duct disease or disorder|disease of bile duct|bile duct disease UMLS:C0005395|DOID:4138|SCTID:118926004|NCIT:C96716|MESH:D001649 owl:Class FOODON:03420293 biolink:NamedThing fruit core (anatomical part) The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's) tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009755 biolink:NamedThing neutrophil actin dysfunction Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. tmpak2llvmy_mondo_relaxed.owl neutrophil actin dysfunction|lentiginous Nevus|NAD|Nevus with architectural disorder|Atypical Nevus|Clark's Nevus|dysplastic nevi|dysplastic Nevus|dysplastic nevus|Clark Nevus|Nevus with architectural disorder and cytologic atypia of melanocytes UMLS:C1850380|MESH:C564942|NCIT:C3694|OMIM:257150 owl:Class MONDO:0012179 biolink:NamedThing narcolepsy 3 tmpak2llvmy_mondo_relaxed.owl narcolepsy 3|NRCLP3 OMIM:609039|UMLS:C1836907 owl:Class MONDO:0023230 biolink:NamedThing Ghose-Sachdev-Kumar syndrome tmpak2llvmy_mondo_relaxed.owl bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma GARD:0002467|UMLS:C2974016|MESH:C537803 https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome owl:Class HP:0001367 biolink:NamedThing Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. tmpak2llvmy_mondo_relaxed.owl Joint disease|Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints MSH:D007592|UMLS:C0240083|UMLS:C0022408|SNOMEDCT_US:399269003 human_phenotype owl:Class MONDO:0030979 biolink:NamedThing endove syndrome, limb-brain type tmpak2llvmy_mondo_relaxed.owl Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies|ENDOVESLB OMIM:619218 owl:Class MONDO:0004360 biolink:NamedThing breast extraskeletal osteosarcoma An osteosarcoma arising from the breast tissue. tmpak2llvmy_mondo_relaxed.owl osteogenic sarcoma of the breast|breast extraskeletal osteosarcoma|breast osteosarcoma (disease)|breast osteosarcoma|osteosarcoma of the breast|osteosarcoma of breast|osteogenic sarcoma of breast|osteogenic breast sarcoma NCIT:C5189|DOID:7787|UMLS:C1335149 owl:Class MONDO:0010751 biolink:NamedThing unique green phenomenon tmpak2llvmy_mondo_relaxed.owl unique green phenomenon UMLS:C1839116|OMIM:314380 owl:Class CHEBI:30527 biolink:NamedThing flavin A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position. tmpak2llvmy_mondo_relaxed.owl Flavin|flavins owl:Class CL:0002015 biolink:NamedThing Kit-negative, Ly-76 high polychromatophilic erythroblast A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpak2llvmy_mondo_relaxed.owl late basophilic and polychromatophilic erythroblast tmeehan 2010-04-26T10:53:11Z cell owl:Class MONDO:0008693 biolink:NamedThing ablepharon macrostomia syndrome Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. tmpak2llvmy_mondo_relaxed.owl ablepharon-macrostomia syndrome|congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|AMS Orphanet:920|OMIM:200110|ICD10:Q87.0|MESH:C535557|UMLS:C1860224|GARD:0000003|DOID:0060550|SCTID:718575002 owl:Class MONDO:0060688 biolink:NamedThing hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency tmpak2llvmy_mondo_relaxed.owl hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency|hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4 OMIM:617953|UMLS:CN244571 owl:Class MONDO:0009867 biolink:NamedThing lethal congenital glycogen storage disease of heart Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. tmpak2llvmy_mondo_relaxed.owl PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease|glycogen storage disease of heart, lethal congenital|fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital nonlysosomal cardiac glycogenosis|fatal congenital hypertrophic cardiomyopathy due to GSD|glycogen storage disease caused by mutation in PRKAG2|glycogen storage disease of heart|phosphorylase kinase deficiency of heart Orphanet:439854|ICD10:G73.6*|OMIM:261740|GARD:0010728|MESH:C564888|UMLS:C1849813|ICD10:E74.0+|DOID:0090101 owl:Class UBERON:0003334 biolink:NamedThing serosa of rectum A serous membrane that is part of a rectum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rectum serosa|rectal serosa|serous membrane of rectum|rectum serous membrane|visceral peritoneum of rectum owl:Class UBERON:0001209 biolink:NamedThing serosa of large intestine A serous membrane that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestine serosa|large intestinal serosa|visceral peritoneum of large intestine|serous membrane of large intestine|serous coat of large intestine|large intestine serous membrane|tunica serosa intestini crassi owl:Class MONDO:0012574 biolink:NamedThing Potocki-Lupski syndrome 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. tmpak2llvmy_mondo_relaxed.owl Duplication 17p11.2 syndrome|chromosome 17P11.2 Duplication syndrome|Potocki-Lupski syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|17p11.2 Duplication syndrome|chromosome 17p11.2 duplication syndrome|PTLS|17p11.2 microduplication syndrome|trisomy 17p11.2 ICD10:Q92.3|Orphanet:1713|NCIT:C124846|DOID:0060853|OMIM:610883|GARD:0010145|SCTID:734016004|UMLS:C2931246 owl:Class MONDO:0010000 biolink:NamedThing rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction tmpak2llvmy_mondo_relaxed.owl rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MESH:C564829|UMLS:C1849333|OMIM:268315 owl:Class MONDO:0019364 biolink:NamedThing pseudotyphus of California Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. tmpak2llvmy_mondo_relaxed.owl SCTID:764104003|Orphanet:83316|ICD10:A79.8 owl:Class MONDO:0008875 biolink:NamedThing blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Frydman-Cohen-Karmon syndrome|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature Orphanet:2057|ICD10:Q87.8|MESH:C536235|OMIM:210745|SCTID:717914000|GARD:0000905 owl:Class MONDO:0019258 biolink:NamedThing mild phenylketonuria Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. tmpak2llvmy_mondo_relaxed.owl mild PKU|mPKU|variant PKU|variant phenylketonuria ICD10:E70.1|GARD:0010324|Orphanet:79253 https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria owl:Class GO:0006517 biolink:NamedThing protein deglycosylation The removal of sugar residues from a glycosylated protein. tmpak2llvmy_mondo_relaxed.owl glycoprotein deglycosylation owl:Class MONDO:0003781 biolink:NamedThing bronchitis An acute or chronic inflammatory process affecting the bronchi. tmpak2llvmy_mondo_relaxed.owl acute bronchitis and bronchiolitis|bronchus inflammation|inflammation of bronchus|CI - chest infection|acute bronchitis|chest cold|bronchial infection|recurrent wheezy bronchitis|chest infection|chronic bronchitis NCIT:C2911|CSP:2596-1500|DOID:6132|ICD9:466.0|UMLS:C0006277|ICD10:J42|MESH:D001991|SCTID:32398004|ICD9:491.9|EFO:0009661|ICD10:J20|ICD10:J20.9|ICD9:491|ICD10:J40|ICD9:490 owl:Class HGNC:3146 biolink:NamedThing ECE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013572 biolink:NamedThing Keppen-Lubinsky syndrome tmpak2llvmy_mondo_relaxed.owl KPLBS|KEPPEN-Lubinsky syndrome|Keppen-Lubinsky syndrome|generalized lipodystrophy-progeroid features-severe intellectual disability syndrome UMLS:C3279800|OMIM:614098|Orphanet:435628|ICD10:E88.1 owl:Class MONDO:0019323 biolink:NamedThing pemphigus erythematosus Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. tmpak2llvmy_mondo_relaxed.owl seborrheic pemphigus|Senear-Usher syndrome EFO:0008603|UMLS:C0263312|MedDRA:10058917|Orphanet:79480|ICD10:L10.4|SCTID:36739006 owl:Class MONDO:0018745 biolink:NamedThing superficial pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants. tmpak2llvmy_mondo_relaxed.owl ICD10:L10.4|ICD10:L10.3|Orphanet:46485|UMLS:CN227541|ICD10:L10.2 owl:Class MONDO:0060714 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 2 tmpak2llvmy_mondo_relaxed.owl tumoral calcinosis, hyperphosphatemic, familial, 2|HFTC2 OMIM:617993 owl:Class MONDO:0018891 biolink:NamedThing familial tumoral calcinosis Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. tmpak2llvmy_mondo_relaxed.owl ICD10:M11.2|GARD:0010877|MedDRA:10059364|Orphanet:53715 https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis owl:Class CHEBI:33247 biolink:NamedThing organic group Any substituent group or skeleton containing carbon. tmpak2llvmy_mondo_relaxed.owl organic groups owl:Class MONDO:0003653 biolink:NamedThing stork bite tmpak2llvmy_mondo_relaxed.owl Unna's nevus|Salmon patch nevus SCTID:254211001|DOID:5806 owl:Class MONDO:0016231 biolink:NamedThing capillary malformation tmpak2llvmy_mondo_relaxed.owl congenital malformation of capillary|rare capillary malformation SCTID:234118009|Orphanet:211247 owl:Class MONDO:0044406 biolink:NamedThing arthrogryposis-ectodermal dysplasia-other anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Stoll-Alembik-Finck syndrome GARD:0005029|Orphanet:3200 owl:Class MONDO:0006346 biolink:NamedThing pancreatic acinar cell carcinoma An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. tmpak2llvmy_mondo_relaxed.owl Pancreatic acinar cell cancer|pancreas acinar cell adenocarcinoma|carcinoma of pancreatic acinar cell|pancreatic acinar cell adenocarcinoma|PAAC|acinar cell carcinoma of the pancreas|acinar cell carcinoma of pancreas|pancreatic acinar cell carcinoma|acinar cell adenocarcinoma of the pancreas|acinar cell adenocarcinoma of pancreas ICD10:C25.1|UMLS:C0279661|NCIT:C7977|ICD10:C25.0|ICD10:C25.7|ICD10:C25.2|Orphanet:424046|DOID:5742|EFO:1000439|ONCOTREE:PAAC|ICD10:C25.8 owl:Class MONDO:0010509 biolink:NamedThing intellectual disability, X-linked 104 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 104|MRX104|FRMPD4 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 104|mental retardation, X-linked type 104|intellectual disability, X-linked type 104|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4 UMLS:C4310817|OMIM:300983 owl:Class NCBITaxon:29105 biolink:NamedThing Calomys tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40141 biolink:NamedThing Sigmodontinae tmpak2llvmy_mondo_relaxed.owl PMID:15371245|GC_ID:1|PMID:15019624 ncbi_taxonomy owl:Class PATO:0000973 biolink:NamedThing porosity A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008967 biolink:NamedThing congenital bile acid synthesis defect 4 An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. tmpak2llvmy_mondo_relaxed.owl CBAS4|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|cholestasis, intrahepatic, with defective conversion of|Trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile|BASD4|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|BAS defect type 4|congenital bile acid synthesis defect type 4|Alpha-methyl-acyl-CoA racemase deficiency|bile acid synthesis defect, congenital, 4|2-methylacyl-CoA racemase deficiency|congenital bile acid synthesis defect 4|bile acid synthesis defect, congenital, type 4|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|Trihydroxycoprostanic acid in bile|AMACR deficiency Orphanet:79095|DOID:0111068|GARD:0010046|MESH:C535444|OMIM:214950|ICD10:K76.8 https://github.com/monarch-initiative/mondo/issues/1196|https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 owl:Class MONDO:0011100 biolink:NamedThing microcephaly, retinitis pigmentosa, and sutural cataract tmpak2llvmy_mondo_relaxed.owl microcephaly, retinitis pigmentosa, and sutural cataract OMIM:601537|MESH:C563296|UMLS:C1832214 owl:Class HGNC:26270 biolink:NamedThing PIEZO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007142 biolink:NamedThing Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. tmpak2llvmy_mondo_relaxed.owl Townes syndrome|TBS1|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|renal-ear-anal-radial syndrome|deafness, sensorineural, with imperforate anus and thumb anomalies|Townes-Brocks-branchiootorenal-like syndrome|anus, imperforate, with hand, foot, and Ear anomalies|renal-Ear-anal-radial syndrome|rear syndrome|TBS|imperforate anus with hand, foot and ear anomalies|anus, imperforate, with hand, foot and ear anomalies|Townes-Brocks syndrome|sensorineural deafness with imperforate anus and hypoplastic thumbs|Townes-Brocks syndrome 1 DOID:0050887|Orphanet:857|GARD:0007784|UMLS:C0265246|MESH:C536974|ICD9:759.89|OMIMPS:107480|UMLS:CN034849|SCTID:24750000|ICD10:Q87.8|NCIT:C99085 https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome owl:Class GO:0001934 biolink:NamedThing positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. tmpak2llvmy_mondo_relaxed.owl stimulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation|up-regulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|positive regulation of protein amino acid phosphorylation owl:Class MONDO:0006528 biolink:NamedThing bacterial exanthem A bacteria-induced exanthem tmpak2llvmy_mondo_relaxed.owl EFO:1000671|DOID:0050487 owl:Class MONDO:0008899 biolink:NamedThing camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl camptodactyly syndrome, Guadalajara, type II|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome, Guadalajara, type 2|camptodactyly syndrome Guadalajara type 2 GARD:0001068|SCTID:720603002|OMIM:211920|MESH:C567138|ICD10:Q87.1|Orphanet:1326 https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 owl:Class MONDO:0033045 biolink:NamedThing orofaciodigital syndrome 16 tmpak2llvmy_mondo_relaxed.owl oral-Facial-digital syndrome, type 16|Ofds 16|OFD16|orofaciodigital syndrome XVI UMLS:CN317535|OMIM:617563|DOID:0080254 owl:Class MONDO:0008594 biolink:NamedThing familial multiple discoid fibromas A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. tmpak2llvmy_mondo_relaxed.owl trichodiscomas, familial multiple|FMDF|hereditary multiple trichodiscomas|small benign fibrovascular tumor of the dermal part of the hair disk|familial multiple trichodiscomas|discoid fibromas, familial multiple Orphanet:538756|UMLS:C1860850|OMIM:190340|MESH:C536847|GARD:0008479 owl:Class MONDO:0016017 biolink:NamedThing methimazole embryofetopathy Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. tmpak2llvmy_mondo_relaxed.owl MMI/CMZ embryopathy|methimazole embryofetopathy|Methimazole/carbimazole embryofetopathy|Methimazole antenatal exposure|Methimazole/carbimazole embryopathy|fetal methimazole syndrome|MMI/CMZ embryofetopathy Orphanet:1923|SCTID:724144006|UMLS:C4510379|GARD:0003573|ICD10:Q86.8 https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure owl:Class GO:0010566 biolink:NamedThing regulation of ketone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007241 biolink:NamedThing tunica adventitia of vein A tunica adventitia that is part of a vein. tmpak2llvmy_mondo_relaxed.owl tunica externa (adventitia)(venae)|venous adventitia owl:Class MONDO:0004826 biolink:NamedThing urethral calculus A concretion in the urethra. tmpak2llvmy_mondo_relaxed.owl urethral Stone|urethra urolithiasis|urolithiasis of urethra UMLS:C0162301|ICD10:N21.1|ICD9:594.2|SCTID:20342001|DOID:9589 owl:Class MONDO:0004828 biolink:NamedThing lower urinary tract calculus A urolithiasis that involves the lower urinary tract. tmpak2llvmy_mondo_relaxed.owl lower urinary tract urolithiasis|urolithiasis of lower urinary tract SCTID:79509009|ICD9:594.9|ICD9:594.8|DOID:9590|UMLS:C0156264|ICD10:N21|ICD10:N21.9|ICD9:594 owl:Class MONDO:0003195 biolink:NamedThing peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. tmpak2llvmy_mondo_relaxed.owl peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma DOID:4901 owl:Class MONDO:0100422 biolink:NamedThing acute myeloid leukemia, RUNX1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.) tmpak2llvmy_mondo_relaxed.owl AML, CBFA2 Gene Mutation|AML, Runt-Related Transcription Factor 1 Gene Mutation|AML, RUNX1 gene mutation|AML, Acute Myeloid Leukemia 1 Gene Mutation|AML, CBFalpha2 Mutation|AML, AMLCR1 Gene Mutation|AML, AML1 Gene Mutation|AML, AML1 Mutation NCIT:C129786 owl:Class UBERON:0015873 biolink:NamedThing heel skin A zone of skin that is part of a heel. tmpak2llvmy_mondo_relaxed.owl skin of heel owl:Class MONDO:0018744 biolink:NamedThing oligodendroglial tumor Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). tmpak2llvmy_mondo_relaxed.owl oligodendroglial neoplasm|oligodendroglial tumor UMLS:C1335110|Orphanet:46484|UMLS:CN205116|NCIT:C6960 owl:Class UBERON:0011931 biolink:NamedThing nasal hair Hair in the nose tmpak2llvmy_mondo_relaxed.owl nose hair|hair of nose|hair of vestibular part of nose owl:Class MONDO:0013906 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A4 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta type IIA4|amelogenesis imperfecta caused by mutation in ODAPH|ODAPH amelogenesis imperfecta|AI2A4|amelogenesis imperfecta, hypomaturation type, IIA4|amelogenesis imperfecta hypomaturation type IIA4 DOID:0110062|OMIM:614832|ICD10:K00.5|UMLS:C3553830 owl:Class GO:0045582 biolink:NamedThing positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation. tmpak2llvmy_mondo_relaxed.owl stimulation of T cell differentiation|positive regulation of T-lymphocyte differentiation|positive regulation of T cell development|positive regulation of T-cell differentiation|upregulation of T cell differentiation|activation of T cell differentiation|up-regulation of T cell differentiation|up regulation of T cell differentiation|positive regulation of T lymphocyte differentiation owl:Class MONDO:0001528 biolink:NamedThing vulva cancer A primary or metastatic malignant neoplasm involving the vulva. tmpak2llvmy_mondo_relaxed.owl vulval neoplasm|malignant neoplasm of vulva, unspecified|malignant vulva neoplasm|Ca vulva|malignant neoplasm of mammalian vulva|malignant vulvar neoplasm|malignant neoplasm of vulva unspecified|malignant neoplasm of the vulva|malignant vulva tumor|malignant tumor of the vulva|malignant neoplasm of vulva|neoplasm of vulva|vulvar cancer|malignant tumor of vulva|malignant mammalian vulva neoplasm|vulval cancer|malignant vulvar tumor|cancer of mammalian vulva|mammalian vulva cancer SCTID:363367000|GARD:0009349|MESH:D014846|ICD10:C51.9|DOID:1245|ICD9:184.4|ICD10:C51|NCIT:C7502 owl:Class CHEBI:51143 biolink:NamedThing nitrogen molecular entity tmpak2llvmy_mondo_relaxed.owl Nitrogenous compounds|nitrogen molecular entities|nitrogen compounds owl:Class MONDO:0100431 biolink:NamedThing migraine without aura A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. tmpak2llvmy_mondo_relaxed.owl common migraine EFO:0005296|SCTID:56097005|NCIT:C117004|UMLS:C0338480|MESH:D020326|DOID:12783 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class MONDO:0005277 biolink:NamedThing migraine disorder A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. tmpak2llvmy_mondo_relaxed.owl migraine|migraine disorder|migraine variant|migraine headache|migraine with or without aura ICD10:G43|ICD9:346|ICD10:G43.9|EFO:0003821|MESH:D008881|DOID:6364|ICD10:G43.909|ICD9:346.9|NCIT:C89715 owl:Class GO:0045700 biolink:NamedThing regulation of spermatid nuclear differentiation Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033673 biolink:NamedThing spermatogenic failure 46 tmpak2llvmy_mondo_relaxed.owl SPGF46 OMIM:619095 owl:Class MONDO:0004436 biolink:NamedThing ovarian myxoid liposarcoma A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. tmpak2llvmy_mondo_relaxed.owl ovarian myxoid liposarcoma|myxoid liposarcoma of ovary|ovary myxoid liposarcoma|myxoid liposarcoma of the ovary DOID:8023|NCIT:C5235|UMLS:C1335170 owl:Class MONDO:0003589 biolink:NamedThing liposarcoma of the ovary A malignant adipose tissue neoplasm of the ovary. tmpak2llvmy_mondo_relaxed.owl ovarian liposarcoma|ovary liposarcoma|liposarcoma of ovary UMLS:C1335165|NCIT:C6419|DOID:5697 owl:Class GO:0051560 biolink:NamedThing mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. tmpak2llvmy_mondo_relaxed.owl calcium ion homeostasis in mitochondrion|regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondria|mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria|regulation of calcium ion concentration in mitochondrion owl:Class GO:0006874 biolink:NamedThing cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl regulation of calcium ion concentration owl:Class CL:0005024 biolink:NamedThing somatomotor neuron A motor neuron that innervates a skeletal muscle. These motor neurons are all excitatory and cholinergic. tmpak2llvmy_mondo_relaxed.owl somatic motor neuron owl:Class CL:0000108 biolink:NamedThing cholinergic neuron A neuron that uses acetylcholine as a vesicular neurotransmitter. tmpak2llvmy_mondo_relaxed.owl FMA:84796|BTO:0004902|WBbt:0006840 cell owl:Class NCBITaxon:89940 biolink:NamedThing Cladophialophora bantiana tmpak2llvmy_mondo_relaxed.owl Cladosporium bantianum|Xylohypha bantiana|Cladosporium trichoides GC_ID:1 NCBITaxon:5590 ncbi_taxonomy owl:Class NCBITaxon:82105 biolink:NamedThing Cladophialophora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001860 biolink:NamedThing folic acid deficiency anemia tmpak2llvmy_mondo_relaxed.owl folate deficiency anemia|folate-deficient megaloblastic anaemia|folate-deficiency anemia DOID:14026|UMLS:C0151482|ICD9:281.2|ICD10:D52.9|ICD10:D52|SCTID:85649008 owl:Class MONDO:0001863 biolink:NamedThing aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. tmpak2llvmy_mondo_relaxed.owl congenital atresia and stenosis of aorta|atresia and stenosis of aorta ICD9:747.22|ICD10:Q25.2|DOID:14037|SCTID:204431007 owl:Class MONDO:0005561 biolink:NamedThing aortic disease Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) tmpak2llvmy_mondo_relaxed.owl disease of aorta|aortic disorder|disorder of aorta|aorta disease|aorta disease or disorder|disease or disorder of aorta|disorder of the aorta DOID:520|EFO:0005775|SCTID:47040006|MESH:D001018|NCIT:C101253|UMLS:C0003493|ICD9:447.9 owl:Class UBERON:0004215 biolink:NamedThing back nerve A nerve that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of back owl:Class UBERON:0015057 biolink:NamedThing scapula endochondral element A scapula bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl scapula skeletal element|scapula element owl:Class UBERON:0002810 biolink:NamedThing right frontal lobe A frontal cortex that is part of a right cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001399 biolink:NamedThing ureter leiomyoma A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of ureter|ureteral leiomyoma|leiomyoma of the ureter|ureter leiomyoma NCIT:C6161|UMLS:C1336875|DOID:11887 owl:Class GO:0002027 biolink:NamedThing regulation of heart rate Any process that modulates the frequency or rate of heart contraction. tmpak2llvmy_mondo_relaxed.owl regulation of heart contraction rate|cardiac chronotropy|regulation of rate of heart contraction owl:Class MONDO:0015922 biolink:NamedThing channelopathy with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:182083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: channelopathy MONDO_0021016 owl:Class MONDO:0004482 biolink:NamedThing fibroosseous pseudotumor of the digits A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. tmpak2llvmy_mondo_relaxed.owl fibroosseous digital pseudotumor|fibroosseous pseudotumor of the digits|fibroosseous pseudotumor of digits UMLS:C1333612|SCTID:403991009|NCIT:C6573|ICD9:215.9|DOID:8153 owl:Class MONDO:0008701 biolink:NamedThing achondrogenesis type IA Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. tmpak2llvmy_mondo_relaxed.owl achondrogenesis Houston-Harris type|achondrogenesis type 1A|ACG1A|achondrogenesis, type 1A|Houston-Harris achondrogenesis|achondrogenesis, Houston-Harris type|achondrogenesis, type IA ICD9:756.9|OMIM:200600|GARD:0000459|ICD10:Q77.0|Orphanet:93299|SCTID:42725006|MESH:C536015|DOID:0080054 owl:Class MONDO:0026729 biolink:NamedThing congenital disorder of glycosylation, type ICC tmpak2llvmy_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc|CDG1CC OMIM:301031 owl:Class MONDO:0018098 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1E (DES) Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. tmpak2llvmy_mondo_relaxed.owl LGMD1E|limb-girdle muscular dystrophy type 1E ICD10:G71.0|UMLS:C3148763|GARD:0012529|Orphanet:34517 Terminology notes: See comments for LGMD1D owl:Class HGNC:4702 biolink:NamedThing GYPA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:4000013 biolink:NamedThing mineralized skeletal tissue Skeletal tissue that is mineralized. tmpak2llvmy_mondo_relaxed.owl mineralized tissue owl:Class HGNC:12782 biolink:NamedThing WNT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015767 biolink:NamedThing trisomy 4p Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. tmpak2llvmy_mondo_relaxed.owl trisomy type 4p|trisomy of the short arm of chromosome 4|4p duplication|4p trisomy|Duplication 4p|chromosome 4p duplication|partial trisomy 4p|Duplication of the short arm of chromosome 4 MESH:C537643|ICD10:Q92.2|GARD:0006091|Orphanet:1738 owl:Class MONDO:0002398 biolink:NamedThing mucinous adenofibroma A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential. tmpak2llvmy_mondo_relaxed.owl mucinous adenofibroma UMLS:C0334499|NCIT:C8978|ICDO:9015/0|DOID:2700 owl:Class CHEBI:18367 biolink:NamedThing phosphate(3-) A phosphate ion that is the conjugate base of hydrogenphosphate. tmpak2llvmy_mondo_relaxed.owl tetraoxophosphate(3-)|Phosphate|phosphate|Orthophosphate|[PO4](3-)|tetraoxidophosphate(3-)|PHOSPHATE ION|PO4(3-)|tetraoxophosphate(V) owl:Class CHEBI:79387 biolink:NamedThing trivalent inorganic anion Any inorganic anion with a valency of three. tmpak2llvmy_mondo_relaxed.owl trivalent inorganic anions owl:Class MONDO:0009094 biolink:NamedThing dermochondrocorneal dystrophy Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl dermochondrocorneal dystrophy|Francois syndrome|François syndrome|FranC'ois syndrome|DCCD|Dermochondrocorneal dystrophy of François MESH:C535375|GARD:0001815|OMIM:221800|SCTID:254150007|UMLS:C0432288|ICD9:379.99|Orphanet:79149 owl:Class CL:0000071 biolink:NamedThing blood vessel endothelial cell An endothelial cell that lines the vasculature. tmpak2llvmy_mondo_relaxed.owl cuboidal endothelial cell of vascular tree cell owl:Class MONDO:0019207 biolink:NamedThing DEND syndrome DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. tmpak2llvmy_mondo_relaxed.owl developmental delay-epilepsy-neonatal diabetes syndrome|K ATP associated developmental delay, epilepsy and neonatal diabetes UMLS:C1853564|NCIT:C131845|SCTID:721088003|ICD10:P70.2|Orphanet:79134|UMLS:C4303593 owl:Class MONDO:0016285 biolink:NamedThing papillary carcinoma of the cervix uteri A papillary carcinoma that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervical papillary carcinoma|uterine cervix papillary carcinoma ICD10:C53.0|Orphanet:213817|ICD10:C53.8|UMLS:CN201075|ICD10:C53.1 owl:Class NCBITaxon:43738 biolink:NamedThing Schizophora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:480117 biolink:NamedThing Cyclorrhapha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001416 biolink:NamedThing skin of abdomen A zone of skin that is part of an abdomen [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdomen zone of skin|zone of skin of abdomen|skin of abdomen proper|abdominal skin|abdomen skin owl:Class MONDO:0009455 biolink:NamedThing immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes tmpak2llvmy_mondo_relaxed.owl immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes UMLS:C1855762|OMIM:242870|MESH:C565468 owl:Class CL:0008034 biolink:NamedThing mural cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. tmpak2llvmy_mondo_relaxed.owl dos 2020-02-29 17:33:55+00:00 owl:Class MONDO:0016713 biolink:NamedThing central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. tmpak2llvmy_mondo_relaxed.owl CNS PNET|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor|central nervous system primitive neuroectodermal tumor|central nervous system PNET NCIT:C129537|MedDRA:10057846|Orphanet:251870 Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma owl:Class MONDO:0007589 biolink:NamedThing exudative vitreoretinopathy 1 tmpak2llvmy_mondo_relaxed.owl EVR1|Criswick-Schepens syndrome|exudative vitreoretinopathy 1|exudative vitreoretinopathy, familial, autosomal dominant|exudative vitreoretinopathy type 1|retinopathy of prematurity|Fevr, autosomal dominant MESH:C536382|DOID:0111412|UMLS:C1851402|OMIM:133780 owl:Class NCBITaxon:2212966 biolink:NamedThing Echinococcus granulosus group tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6209 biolink:NamedThing Echinococcus tmpak2llvmy_mondo_relaxed.owl PMID:16352465|PMID:18338180|PMID:17156584|PMID:18180956|PMID:12377596|PMID:12964823|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003002 biolink:NamedThing dysgerminoma A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. tmpak2llvmy_mondo_relaxed.owl dysgerminoma, malignant|dysgerminoma (disease)|dysgerminoma dysgerminoma (disease) UMLS:C0013377|NCIT:C2996|MESH:D004407|HP:0100621|ICDO:9060/3|DOID:4441 owl:Class MONDO:0012017 biolink:NamedThing Parkes Weber syndrome Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb. tmpak2llvmy_mondo_relaxed.owl PKWS|Parkes Weber syndrome|Pkws|PARKES WEBER syndrome UMLS:CN074207|GARD:0009787|UMLS:CN206396|Orphanet:90307|ICD9:759.6|OMIM:608355|SCTID:234143003|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome owl:Class MONDO:0006408 biolink:NamedThing sex hormone-producing adrenal cortex adenoma A rare adenoma of the adrenal cortex that produces androgens or estrogens. tmpak2llvmy_mondo_relaxed.owl Sex hormone producing adrenal cortex adenoma|Sex hormone producing adrenal cortical adenoma NCIT:C48452|UMLS:C1710067|EFO:1000523 owl:Class HGNC:815 biolink:NamedThing ATP2B2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002030 biolink:NamedThing chronic cervicitis Chronic inflammation of the cervix. tmpak2llvmy_mondo_relaxed.owl chronic cervicitis (disease)|cervicitis (disease), chronic SCTID:56728002|UMLS:C0269062|NCIT:C27057|DOID:1513 owl:Class GO:0032413 biolink:NamedThing negative regulation of ion transmembrane transporter activity Any process that stops or reduces the activity of an ion transporter. tmpak2llvmy_mondo_relaxed.owl downregulation of ion transporter activity|down-regulation of ion transporter activity|negative regulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity owl:Class MONDO:0003145 biolink:NamedThing supratentorial primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. tmpak2llvmy_mondo_relaxed.owl CNS/supratentorial PNET|supratentorial primitive neuroectodermal tumor|supratentorial PNET|supratent. primitive neuro. tumor UMLS:C1336538|SCTID:699318007|GARD:0007366|ICD9:209.30|NCIT:C6968|DOID:4791 owl:Class HGNC:14348 biolink:NamedThing HTRA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014628 biolink:NamedThing basal ganglia calcification, idiopathic, 6 Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene. tmpak2llvmy_mondo_relaxed.owl basal ganglia calcification, idiopathic, type 6|XPR1 bilateral striopallidodentate calcinosis|IBGC6|basal ganglia calcification, idiopathic, 6|bilateral striopallidodentate calcinosis caused by mutation in XPR1 OMIM:616413|UMLS:C4225335 owl:Class MONDO:0007668 biolink:NamedThing globulin anomaly involving beta (2A)-globulin tmpak2llvmy_mondo_relaxed.owl globulin anomaly involving beta (2A)-globulin OMIM:137900|MESH:C564229|UMLS:C1842009 owl:Class PO:0009084 biolink:NamedThing pericarp A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall. tmpak2llvmy_mondo_relaxed.owl portion of pericarp tissue (exact)|fruit peel (related)|果皮 (Japanese, exact)|pericarpo (Spanish, exact)|fruit rind (related) PO_GIT:511|PO_GIT:149 Pericarp comprises endocarp (PO:0009086), mesocarp (PO:0009087), and exocarp (PO:0009085) layers, each of which can be fleshy or dry. If you are annotating to this term, please add an additional annotation to the specific type of fruit (PO:0009001), such as achene fruit (PO:0030107), berry fruit (PO:0030108), capsule fruit (PO:0030091), caryopsis fruit (PO:0030104), drupe fruit (PO:0030103), follicle fruit (PO:0030105), legume fruit (PO:0030100), nut fruit (PO:0030102), samara fruit (PO:0030099), schizocarp fruit (PO:0030098), silique fruit (PO:0030106), or their subclasses, depending on the species. plant_anatomy owl:Class PO:0009007 biolink:NamedThing portion of plant tissue A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types. tmpak2llvmy_mondo_relaxed.owl porción de un tejido vegetal (Spanish, exact)|portion of tissue (broad)|植物組織の一部 (Japanese, exact)|tissue (broad)|plant tissue (related) PO_GIT:59 A portion of plant tissue may contain one or several types of cells that are organized in a specific spatial arrangement into a structural unit (which includes a mass of callus) and may include an intercellular matrix. May include other types of isolated cells, such as idioblasts. plant_anatomy owl:Class MONDO:0010006 biolink:NamedThing Sandhoff disease Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. tmpak2llvmy_mondo_relaxed.owl GM2 gangliosidosis, 0 variant|GM2-gangliosidosis, type 2|Sandhoff disease, juvenile type|GM2 gangliosidosis 0 variant|hexosaminidase A and B deficiency disease|Sandhoff disease, adult type|GM2 gangliosidosis, type 2|Hexosaminidases A and B deficiency|Sandhoff disease, infantile type|Hexosaminidases a and B deficiency|Sandhoff-Jatzkewitz-Pilz disease|Sandhoff disease|Beta-hexosaminidase-beta-subunit deficiency|Sandhoff Jatzkewitz disease|total hexosaminidase deficiency ICD10:E75.01|OMIM:268800|Orphanet:796|MESH:D012497|GARD:0007604|NCIT:C85052|DOID:3323|GARD:0002521|UMLS:C0036161|ICD10:E75.0|SCTID:23849003 owl:Class MONDO:0021160 biolink:NamedThing gonococcal cystitis An cystitis caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis UMLS:C0473230|SCTID:197848003 owl:Class GO:0010469 biolink:NamedThing regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl regulation of receptor activity|regulation of signalling receptor activity owl:Class MONDO:0019969 biolink:NamedThing panner disease Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good. tmpak2llvmy_mondo_relaxed.owl Osteochondrosis of the capital humerus|aseptic necrosis of the capital humerus UMLS:CN206896|Orphanet:97336|ICD10:M92.0 owl:Class MONDO:0014238 biolink:NamedThing severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive 39|mental retardation, autosomal recessive type 39|MRT39|intellectual disability, autosomal recessive type 39 Orphanet:391307|OMIM:615541|ICD10:Q87.8|UMLS:C3809853 owl:Class HP:0008055 biolink:NamedThing Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. tmpak2llvmy_mondo_relaxed.owl Absent/underdeveloped uvea UMLS:C4024746 peter 2008-04-02T03:24:00Z human_phenotype owl:Class HP:0000553 biolink:NamedThing Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. tmpak2llvmy_mondo_relaxed.owl Abnormality of the uvea UMLS:C4025842 human_phenotype owl:Class MONDO:0018739 biolink:NamedThing neonatal alloimmune neutropenia tmpak2llvmy_mondo_relaxed.owl UMLS:C0272176|Orphanet:464370|ICD10:P61.5|SCTID:14333004 owl:Class MONDO:0015822 biolink:NamedThing acquired neutropenia An instance of neutropenia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl immunologic neutropenia|acquired neutropenia Orphanet:178996 owl:Class FOODON:00001916 biolink:NamedThing grain based alcoholic beverage tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001882 biolink:NamedThing fruit based alcoholic beverage tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008008 biolink:NamedThing MOMO syndrome MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. tmpak2llvmy_mondo_relaxed.owl macrosomia, obesity, macrocephaly, ocular abnormalities|momo syndrome|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|macrosomia, obesity, macrocephaly, and ocular abnormalities|macrocephaly-obesity-mental disability-ocular abnormalities syndrome SCTID:724137002|UMLS:C1834759|OMIM:157980|Orphanet:2563|GARD:0000178|MESH:C535812|ICD10:Q87.3 https://rarediseases.info.nih.gov/diseases/178/momo-syndrome owl:Class MONDO:0016127 biolink:NamedThing bacterial myositis tmpak2llvmy_mondo_relaxed.owl SCTID:30330001|ICD10:M60.0|Orphanet:206994 owl:Class MONDO:0020382 biolink:NamedThing multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. tmpak2llvmy_mondo_relaxed.owl multifocal pattern dystrophy simulating Stargardt disease UMLS:CN207256|Orphanet:99003|ICD10:H35.5|SCTID:723408004 owl:Class MONDO:0018973 biolink:NamedThing patterned dystrophy of the retinal pigment epithelium tmpak2llvmy_mondo_relaxed.owl Orphanet:63454|MESH:C536309|GARD:0009821|UMLS:C1868569|ICD10:H35.5 owl:Class MONDO:0021082 biolink:NamedThing Meckel diverticulum neoplasm A neoplasm involving a Meckel's diverticulum. tmpak2llvmy_mondo_relaxed.owl tumor of Meckel's diverticulum|Meckel's diverticulum neoplasm (disease)|Meckel's diverticulum neoplasm|neoplasm of Meckel's diverticulum|Meckel's diverticulum tumor SCTID:126836001|UMLS:C0345839 owl:Class MONDO:0005503 biolink:NamedThing developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. tmpak2llvmy_mondo_relaxed.owl developmental mental disorder|developmental disorder of mental health 2021-12-01 EFO:0005548|ICD9:315.8|SCTID:129104009|DOID:0060037 Reason: out of scope. Term to consider: MONDO:0700092. MONDO:0700092 owl:Class GO:0045981 biolink:NamedThing positive regulation of nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpak2llvmy_mondo_relaxed.owl up regulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|upregulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|activation of nucleotide metabolic process|stimulation of nucleotide metabolic process owl:Class MONDO:0000782 biolink:NamedThing Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. tmpak2llvmy_mondo_relaxed.owl Ziziphus mauritiana fruit allergy DOID:0060507 owl:Class UBERON:0000112 biolink:NamedThing sexually immature stage tmpak2llvmy_mondo_relaxed.owl subadult stage|juvenile stage|immature stage owl:Class UBERON:0000105 biolink:NamedThing life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpak2llvmy_mondo_relaxed.owl stage|developmental stage owl:Class MONDO:0016872 biolink:NamedThing partial deletion of chromosome 7 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 7|partial monosomy of chromosome 7 Orphanet:261796|ICD10:Q93.5 owl:Class GO:0002539 biolink:NamedThing prostaglandin production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl prostaglandin production involved in acute inflammatory response owl:Class GO:0002538 biolink:NamedThing arachidonic acid metabolite production involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response|production of arachidonic acid metabolites involved in inflammatory response owl:Class UBERON:0008404 biolink:NamedThing proximal tubular epithelium The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. tmpak2llvmy_mondo_relaxed.owl proximale tubular epithelium|proximal tubule epithelium|epithelium of proximal convoluted tubule|proximal renal tubule epithelium|epithelium of proximal renal tubule owl:Class MONDO:0004937 biolink:NamedThing hypervitaminosis D tmpak2llvmy_mondo_relaxed.owl hypervitaminosis type D UMLS:C1442839|ICD10:E67.3|SCTID:27712000|ICD9:278.4|DOID:9971 owl:Class MONDO:0034189 biolink:NamedThing primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:562639 owl:Class GO:1903026 biolink:NamedThing negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpak2llvmy_mondo_relaxed.owl downregulation of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding|down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class GO:2000678 biolink:NamedThing negative regulation of transcription regulatory region DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006357 biolink:NamedThing parotid gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpak2llvmy_mondo_relaxed.owl parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid gland|parotid gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of the parotid|carcinoma ex pleomorphic adenoma of parotid EFO:1000461|NCIT:C5974|SCTID:425127006|UMLS:C1335356 owl:Class MONDO:0017228 biolink:NamedThing autoimmune pancreatitis type 2 Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. tmpak2llvmy_mondo_relaxed.owl duct-centric pancreatitis|AIP type 2 ICD10:K86.1|UMLS:CN202713|Orphanet:280315 owl:Class HP:0001097 biolink:NamedThing Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. tmpak2llvmy_mondo_relaxed.owl Dry eyes|Keratitis sicca|Xerophthalmia|Dry eye syndrome UMLS:C0043349|MSH:D007638|MSH:D014985|SNOMEDCT_US:363677007|UMLS:C0013238|MSH:C531719|MSH:D015352|SNOMEDCT_US:302896008|UMLS:C0022575|UMLS:C2930821|SNOMEDCT_US:46152009 human_phenotype owl:Class MONDO:0021431 biolink:NamedThing squamous cell carcinoma of buccal mucosa A squamous cell carcinoma that involves the buccal mucosa. tmpak2llvmy_mondo_relaxed.owl scc of buccal mucosa|scc of the buccal mucosa|buccal mucosa squamous cell carcinoma|squamous cell carcinoma of the buccal mucosa NCIT:C4040|UMLS:C0280299|SCTID:254437001 owl:Class UBERON:0007473 biolink:NamedThing lumen of epithelial sac The space within an epithelial sphere. tmpak2llvmy_mondo_relaxed.owl cavity of vesicle owl:Class HGNC:3026 biolink:NamedThing DRD5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024945 biolink:NamedThing hepatitis, non-human animal Inflammation of the liver in non-human animals. tmpak2llvmy_mondo_relaxed.owl animal Hepatitis|Hepatitides, animal|animal Hepatitides MESH:D006520 owl:Class GO:1902680 biolink:NamedThing positive regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. tmpak2llvmy_mondo_relaxed.owl up-regulation of RNA formation|up-regulation of RNA biosynthesis|positive regulation of RNA synthesis|up-regulation of RNA biosynthetic process|activation of RNA anabolism|positive regulation of RNA formation|positive regulation of RNA anabolism|up regulation of RNA formation|activation of RNA biosynthesis|activation of RNA biosynthetic process|up-regulation of RNA anabolism|up regulation of RNA biosynthetic process|upregulation of RNA biosynthetic process|up regulation of RNA anabolism|activation of RNA formation|activation of RNA synthesis|upregulation of RNA synthesis|upregulation of RNA biosynthesis|upregulation of RNA anabolism|upregulation of RNA formation|up regulation of RNA biosynthesis|positive regulation of RNA biosynthesis|up regulation of RNA synthesis|up-regulation of RNA synthesis owl:Class MONDO:0018500 biolink:NamedThing cutaneous larva migrans Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. tmpak2llvmy_mondo_relaxed.owl dew itch|creeping eruption|ground itch|CLM MESH:D007815|Orphanet:423717|ICD9:126.9|SCTID:19362000|ICD10:B76.9|GARD:0001629 https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans owl:Class MONDO:0100409 biolink:NamedThing acute myeloid leukemia, t(3;5)(q25;q34) Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.) tmpak2llvmy_mondo_relaxed.owl AML, t(3;5)(q25;q34) NCIT:C7600 owl:Class MONDO:0008026 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures tmpak2llvmy_mondo_relaxed.owl SMALED1|Sma-led|Kugelberg-Welander syndrome, autosomal dominant|spinal muscular atrophy, childhood, proximal, autosomal dominant|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures|spinal muscular atrophy, juvenile, proximal, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant MESH:C563560|Orphanet:209341|OMIM:158600|ICD10:G12.1|UMLS:C1834690 owl:Class MONDO:0020300 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. tmpak2llvmy_mondo_relaxed.owl ENFL|ADNFLE SCTID:698021005|ICD9:345.80|Orphanet:98784|MESH:C579932|GARD:0011918|UMLS:C3696898|DOID:0060681 owl:Class MONDO:0006937 biolink:NamedThing pulpitis Inflammation of the dental pulp. tmpak2llvmy_mondo_relaxed.owl inflammation of dental pulp|dental pulp inflammation ICD9:522.0|UMLS:C0034103|MedDRA:10037463|ICD10:K04.0|DOID:11121|SCTID:32620007|EFO:1001139|MESH:D011671 owl:Class UBERON:0004732 biolink:NamedThing segmental subdivision of nervous system Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. tmpak2llvmy_mondo_relaxed.owl neuromere owl:Class MONDO:0009840 biolink:NamedThing Partington-Anderson syndrome tmpak2llvmy_mondo_relaxed.owl Partington-Anderson syndrome UMLS:C1850075|Orphanet:2829|UMLS:CN202825|MESH:C536299|OMIM:260555 owl:Class UBERON:0001584 biolink:NamedThing left subclavian artery The subclavian artery that supplies the left pectoral appendage tmpak2llvmy_mondo_relaxed.owl arteria subclavia (sinistra) owl:Class UBERON:0001533 biolink:NamedThing subclavian artery One of two laterally paired arteries that supplies the pectoral appendages, usually branching from the dorsal aorta tmpak2llvmy_mondo_relaxed.owl pectoral artery|arteria subclavia|arterial tree of upper limb|PA|subclavian arterial tree owl:Class GO:0043467 biolink:NamedThing regulation of generation of precursor metabolites and energy Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700068 biolink:NamedThing myopathy caused by varation in POMGNT1 Any myopathy in which the cause of the disease is a varation in the POMGNT1 gene. tmpak2llvmy_mondo_relaxed.owl POMGNT1-related myopathy|myopathy caused by mutation in POMGNT1|POMGNT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0044719 biolink:NamedThing erythema multiforme major A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area. tmpak2llvmy_mondo_relaxed.owl erythema exsudativum multiforme majus|erythema multiforme majus NCIT:C3385|Orphanet:502499 owl:Class MONDO:0014507 biolink:NamedThing Catel-Manzke syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. tmpak2llvmy_mondo_relaxed.owl Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|Pierre Robin syndrome with hyperphalangy and clinodactyly|Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|Catel Manzke syndrome|Palatodigital syndrome Catel-Manzke type|Catel-Manzke syndrome|index finger anomaly with Pierre Robin syndrome|index finger anomaly-Pierre Robin syndrome|hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Palatodigital syndrome, Catel-Manzke type|CATMANS OMIM:616145|ICD10:Q87.8|GARD:0000028|SCTID:722383001|MESH:C535347|UMLS:C1844887|Orphanet:1388 https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome owl:Class MONDO:0018354 biolink:NamedThing Prader-Willi-like syndrome Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. tmpak2llvmy_mondo_relaxed.owl PWS-like UMLS:CN226094|ICD10:Q87.1|Orphanet:398073 owl:Class UBERON:0005427 biolink:NamedThing corneal primordium Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000194 biolink:NamedThing regulation of female gonad development Any process that modulates the frequency, rate or extent of female gonad development. tmpak2llvmy_mondo_relaxed.owl regulation of ovarian development|regulation of ovary development owl:Class MONDO:0032820 biolink:NamedThing neurodevelopmental disorder with structural brain anomalies and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES|NEDBAF OMIM:618577 owl:Class MONDO:0018301 biolink:NamedThing interstitial cystitis Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. tmpak2llvmy_mondo_relaxed.owl bladder pain syndrome|IC/BPS|interstitial cystitis, chronic|ulcerative cystitis|chronic interstitial cystitis|interstitial cystitis/painful bladder syndrome|IC/PBS|painful bladder syndrome|interstitial cystitis/bladder pain syndrome MESH:D018856|NCIT:C27189|UMLS:CN204884|DOID:1678|ICD10:N30.1|MedDRA:10008927|SCTID:197834003|EFO:1000869|ICD9:595.1|MedDRA:10011796|UMLS:C0282488|DOID:13949|UMLS:C1720830|Orphanet:37202|UMLS:C0600040|SCTID:111409009 owl:Class MONDO:0002120 biolink:NamedThing neuroendocrine carcinoma A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. tmpak2llvmy_mondo_relaxed.owl NEC|neuroendocrine cancer|neuroendocrine carcinoma SCTID:253000007|DOID:1800|ICDO:8246/3|UMLS:C0206695|NCIT:C3773|MESH:D018278 owl:Class MONDO:0010351 biolink:NamedThing Fanconi anemia complementation group B Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. tmpak2llvmy_mondo_relaxed.owl FANCB|Fanconi anemia complementation group B|Fanconi anemia complementation group type B|FA2|Fanconi pancytopenia, type 2|Fanconi Anemia, complementation group type B|Fanconi anemia, complementation group B|Fanconi pancytopenia type 2|FACB OMIM:300514|MESH:C564497|DOID:0111098|NCIT:C125703|UMLS:C1845292 owl:Class MONDO:0100345 biolink:NamedThing lactose intolerance tmpak2llvmy_mondo_relaxed.owl lactase persistence|lactose intolerance|LM - lactose malabsorption|lactose intolerance (disease) lactose intolerance (disease) HP:0004789|SCTID:267425008|ICD9:271.3|UMLS:C0022951|ICD10:E73.9|ICD10:E73|NCIT:C3154|DOID:10604|EFO:1000062|Orphanet:319681 owl:Class FOODON:03412972 biolink:NamedThing food additive tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090205 biolink:NamedThing positive regulation of cholesterol metabolic process Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001629 biolink:NamedThing Jaccoud syndrome tmpak2llvmy_mondo_relaxed.owl Jaccoud's syndrome|Jaccoud syndrome DOID:13080|ICD10:M12.0|ICD9:714.4|SCTID:84801008|UMLS:C0152084|ICD10:M12.00 owl:Class MONDO:0006394 biolink:NamedThing rectal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl rectal tubular adenoma NCIT:C96477|UMLS:C3272804|EFO:1000504 owl:Class MONDO:0016624 biolink:NamedThing inherited deficiency anemia tmpak2llvmy_mondo_relaxed.owl constitutional rare deficiency anemia Orphanet:248296 owl:Class MONDO:0001639 biolink:NamedThing deficiency anemia tmpak2llvmy_mondo_relaxed.owl deficiency anemias|unspecified deficiency anemia ICD9:281.9|ICD9:281.8|UMLS:C0041782|DOID:13121|SCTID:267513007 owl:Class MONDO:0000209 biolink:NamedThing prenatal-onset spinal muscular atrophy with congenital bone fractures tmpak2llvmy_mondo_relaxed.owl SMABF|spinal muscular atrophy with congenital bone fractures UMLS:CN238807|Orphanet:486811|OMIMPS:616866 owl:Class GO:2000196 biolink:NamedThing positive regulation of female gonad development Any process that activates or increases the frequency, rate or extent of female gonad development. tmpak2llvmy_mondo_relaxed.owl positive regulation of ovary development|positive regulation of ovarian development owl:Class MONDO:0011295 biolink:NamedThing schizophrenia 7 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32. tmpak2llvmy_mondo_relaxed.owl schizophrenia 7 with or without an affective disorder|schizophrenia 7|SCZD7|schizophrenia susceptibility locus, chromosome 13Q-related OMIM:603176|DOID:0070083 owl:Class MONDO:0021055 biolink:NamedThing classic familial adenomatous polyposis Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. tmpak2llvmy_mondo_relaxed.owl familial adenomatous polyposis|familial adenomatous polyposis of the colon|familial adenomatous polyposis coli|hereditary adenomatous polyposis coli|colorectal adenomatous polyposis|familial polyposis|adenomatous polyposis of the colon|familial polyposis coli|hereditary polyposis coli|familial adenomatous polyposis syndrome|APC - adenomatous polyposis coli|adenomatous polyposis coli|classic FAP|FPC|classic familial adenomatous polyposis|polyposis coli|familial multiple polyposis|FAP SCTID:72900001|ICD10:D12.6|ICDO:8220/0|Orphanet:733|NCIT:C3339|MedDRA:10056981|OMIMPS:175100|UMLS:CN240755|UMLS:C0032580|GARD:0006408|DOID:0050424 owl:Class MONDO:0014236 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 2 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, musculocontractural type, 2|Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE|Ehlers-Danlos syndrome, musculocontractural type 2|EDSMC2|DSE Ehlers-Danlos syndrome, musculocontractural type UMLS:C3809845|OMIM:615539 owl:Class MONDO:0011142 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. tmpak2llvmy_mondo_relaxed.owl adducted thumb-club foot syndrome|EDSMC|D4ST1-deficient EDS|CHST14-related Ehlers-Danlos syndrome|adducted thumb clubfoot syndrome|EDS6B, formerly|adducted thumb-clubfoot syndrome|EDSMC1|EDSmc|Ehlers-Danlos syndrome, type VIB, formerly|Ehlers-Danlos syndrome, arthrogryposic type|Ehlers-Danlos syndrome, type Vib|EDS, arthrogryposic type|Ehlers-Danlos syndrome, type Vib, formerly|musculocontractural EDS|Ehlers-Danlos syndrome, Kosho type|ATCS|D4ST1-deficient Ehlers-Danlos syndrome|arthrogryposis, distal, with peculiar facies and hydronephrosis|EDS, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumbs Dundar type|MCEDS|CHST14-related EDS|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|EDS, Kosho type|musculocontractural Ehlers-Danlos syndrome|adducted thumbs-arthrogryposis syndrome, Dundar type|autosomal recessive adducted thumb-club foot syndrome|Ehlers-Danlos syndrome, musculocontractural type 1|Dundar syndrome MESH:C000600608|Orphanet:2953|GARD:0008486|ICD10:Q79.6|SCTID:720860004|GARD:0000545 https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type owl:Class MONDO:0021412 biolink:NamedThing polyp of maxillary sinus A polyp that involves the maxillary sinus. tmpak2llvmy_mondo_relaxed.owl maxillary sinus polyp|polyp of the maxillary sinus|maxillary antral polyp UMLS:C0264239|SCTID:29074008|NCIT:C3931|ICD9:471.8 owl:Class HGNC:904 biolink:NamedThing AXIN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019083 biolink:NamedThing Leigh syndrome with cardiomyopathy tmpak2llvmy_mondo_relaxed.owl cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|Leigh disease with myopathy|cardiomyopathy with myopathy due to COX deficiency UMLS:CN205578|Orphanet:70474|ICD10:G31.8 owl:Class MONDO:0022736 biolink:NamedThing occupational lung disease tmpak2llvmy_mondo_relaxed.owl Occupational inhalation disease|Occupational respiratory disease|Occupational pulmonary disease|Occupational lung disorder|Occupational lung disease UMLS:C0264421|ICD9:508.9|SCTID:86157004|GARD:0012752 owl:Class CL:0002074 biolink:NamedThing myocardial endocrine cell The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides). tmpak2llvmy_mondo_relaxed.owl FMA:67111 tmeehan 2010-06-29T11:50:47Z cell owl:Class MONDO:0011434 biolink:NamedThing psoriasis 5, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 5, susceptibility to|PSORS5 OMIM:604316|DOID:0111282 owl:Class MONDO:0003184 biolink:NamedThing trachea carcinoma A carcinoma that arises from epithelial cells of the trachea. tmpak2llvmy_mondo_relaxed.owl carcinoma of the trachea|cancer of the trachea|cancer of trachea|tracheal carcinoma|carcinoma of trachea|trachea carcinoma|trachea cancer EFO:1000599|UMLS:C1744708|DOID:4876|NCIT:C9347 owl:Class CHEBI:36360 biolink:NamedThing phosphorus oxoacids and derivatives tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012320 biolink:NamedThing cervical artery An artery of the neck tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051155 biolink:NamedThing positive regulation of striated muscle cell differentiation Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl activation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|upregulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation owl:Class GO:0051149 biolink:NamedThing positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of muscle cell differentiation|stimulation of muscle cell differentiation|up-regulation of muscle cell differentiation|activation of muscle cell differentiation|upregulation of muscle cell differentiation owl:Class MONDO:0011952 biolink:NamedThing amyotrophic lateral sclerosis type 7 tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 7|ALS7 OMIM:608031|GARD:0010500|DOID:0060199|UMLS:C1842674|MESH:C564300 https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7 owl:Class MONDO:0019448 biolink:NamedThing benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl FCMTE|BAFME|autosomal dominant cortical myoclonus and epilepsy|familial adult myoclonic epilepsy|familial cortical myoclonic tremor and epilepsy|benign adult familial myoclonus epilepsy|FAME|ADCME Orphanet:86814|UMLS:CN206220|SCTID:717225001|ICD10:G40.3|UMLS:C4273988 owl:Class MONDO:0400006 biolink:NamedThing botryomycosis A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy. tmpak2llvmy_mondo_relaxed.owl pyoderma vegetans|bacterial pseudomycosis 2021-05-10 18:49:42+00:00 MPATH:859 http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0006173 biolink:NamedThing conjunctival squamous cell carcinoma A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. tmpak2llvmy_mondo_relaxed.owl conjunctiva squamous cell carcinoma|epidermoid carcinoma of conjunctiva|invasive squamous cell carcinoma of the conjunctiva|conjunctiva epidermoid carcinoma|squamous cell carcinoma of conjunctiva|ocular surface squamous neoplasia|conjunctival squamous cell cancer|conjunctival squamous cell carcinoma|conjunctival epidermoid carcinoma|squamous cell carcinoma of the conjunctiva|epidermoid carcinoma of the conjunctiva UMLS:C0346359|DOID:1748|NCIT:C4549|SCTID:255003007|EFO:1000206 owl:Class CL:0000443 biolink:NamedThing calcitonin secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0021542 biolink:NamedThing hemangioma of choroid A hemangioma that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl benign hemangioma of choroid|benign angioma of choroid|angioma of the choroid|optic choroid hemangioma|hemangioma of optic choroid|benign choroid hemangioma|choroid hemangioma|benign choroid angioma|angioma of choroid|benign hemangioma of the choroid|benign angioma of the choroid|hemangioma, choroid, benign|hemangioma of the choroid|choroid angioma SCTID:255022003|UMLS:C0346390|ICD9:228.09|NCIT:C4562 owl:Class MONDO:0006899 biolink:NamedThing pericoronitis Inflammation of the gingiva surrounding the crown of a tooth. tmpak2llvmy_mondo_relaxed.owl MedDRA:10034504|MESH:D010497|EFO:1001098|UMLS:C0031055|DOID:3671|SCTID:22240003 owl:Class GO:0050727 biolink:NamedThing regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037807 biolink:NamedThing glycerol metabolism disease A disease that has its basis in the disruption of glycerol metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of glycerol metabolism|disorder of glycerol metabolic process|glycerol metabolic process disease SCTID:237977000|UMLS:C0342762 owl:Class NCBITaxon:6690 biolink:NamedThing Penaeus aztecus tmpak2llvmy_mondo_relaxed.owl brown shrimp|Farfantepenaeus aztecus|Penaeus (Farfantepenaeus) aztecus GC_ID:1 ncbi_taxonomy owl:Class HP:0012639 biolink:NamedThing Abnormal nervous system morphology A structural anomaly of the nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormal nervous system morphology|Abnormal shape of nervous system|Abnormality of nervous system morphology UMLS:C4022810|Fyler:4135|Fyler:4300 peter 2014-01-19T08:03:08Z human_phenotype owl:Class GO:0001810 biolink:NamedThing regulation of type I hypersensitivity Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18623 biolink:NamedThing COG8 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:451507 biolink:NamedThing Mucoromycotina tmpak2llvmy_mondo_relaxed.owl Zygomycota PMID:17572334|PMID:27738200|PMID:17051209|PMID:14715234|PMID:17010206|GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001146 biolink:NamedThing suprarenal vein A vein that drains the adrenal gland. tmpak2llvmy_mondo_relaxed.owl adrenal vein owl:Class MONDO:0000960 biolink:NamedThing diabetic peripheral angiopathy Diabetic angiopathy is a form of angiopathy associated with diabetic complications. tmpak2llvmy_mondo_relaxed.owl diabetic vascular disorder|diabetic angiopathy ICD9:250.7|SCTID:127014009|NCIT:C35610|UMLS:C0011875|DOID:10182|MESH:D003925|DOID:11713|EFO:1000896|UMLS:C0011871|ICD9:443.81 owl:Class MONDO:0002795 biolink:NamedThing adult central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in adults. tmpak2llvmy_mondo_relaxed.owl adult CNS PNET|central nervous system primitive neuroectodermal neoplasm of adults|adult central nervous system primitive neuroectodermal tumor|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor DOID:3865|NCIT:C5411|UMLS:C1332196 owl:Class MONDO:0006919 biolink:NamedThing potassium deficiency A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed) tmpak2llvmy_mondo_relaxed.owl EFO:1001120|MedDRA:10036445|MESH:D011191 owl:Class UBERON:0018150 biolink:NamedThing skin of lower lip A zone of skin that is part of a lower lip. tmpak2llvmy_mondo_relaxed.owl lower lip skin owl:Class MONDO:0015467 biolink:NamedThing craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.0|Orphanet:1527|GARD:0001601|SCTID:720818003 owl:Class MONDO:0005156 biolink:NamedThing encephalomyelitis Inflammation of the brain and the spinal cord. tmpak2llvmy_mondo_relaxed.owl central nervous system inflammation|inflammation of central nervous system|encephalitis &/or myelitis|encephalitis and/or myelitis DOID:640|SCTID:62950007|ICD9:323.9|EFO:0001423|NCIT:C34580|UMLS:C0014070|MESH:D004679 owl:Class MONDO:0003408 biolink:NamedThing ovarian primitive germ cell tumor A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. tmpak2llvmy_mondo_relaxed.owl ovarian primitive germ cell tumor NCIT:C39986|UMLS:C1518727|DOID:5351 owl:Class MONDO:0003870 biolink:NamedThing childhood brainstem astrocytoma An astrocytoma that arises from the brain stem and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood brain stem astrocytic neoplasm|brain stem astrocytic neoplasm of childhood|childhood brainstem astrocytoma|childhood brain stem astrocytoma|pediatric brain stem astrocytic neoplasm NCIT:C6216|UMLS:C1332950|DOID:6386 owl:Class MONDO:0016408 biolink:NamedThing permanent congenital hypothyroidism Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. tmpak2llvmy_mondo_relaxed.owl ICD10:E03.1|ICD10:E03.0|Orphanet:226292 owl:Class MONDO:0009986 biolink:NamedThing retinopathy, pigmentary, and intellectual disability tmpak2llvmy_mondo_relaxed.owl retinal pigmentary degeneration, microcephaly, and severe intellectual disability|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy, pigmentary, and intellectual disability|retinopathy, pigmentary, and mental retardation|retinopathy pigmentary mental retardation MESH:C538367|OMIM:268050|GARD:0004688|Orphanet:3084 owl:Class MONDO:0023176 biolink:NamedThing formaldehyde poisoning tmpak2llvmy_mondo_relaxed.owl Formalin toxicity|Formalin intoxication|formaldehyde toxicity|formaldehyde exposure MESH:C537268|GARD:0002361 https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning owl:Class ENVO:00003030 biolink:NamedThing silage A fermented, high-moisture forage that can be fed to ruminants. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:0010003 biolink:NamedThing agricultural environmental material tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017929 biolink:NamedThing congenital achiasma Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. tmpak2llvmy_mondo_relaxed.owl Orphanet:324353|ICD10:H47.4|SCTID:734031008 owl:Class UBERON:0006563 biolink:NamedThing tunica media of pulmonary trunk Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26877 biolink:NamedThing CKAP2L tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048513 biolink:NamedThing animal organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpak2llvmy_mondo_relaxed.owl organogenesis|development of an organ owl:Class MONDO:0018633 biolink:NamedThing 20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. tmpak2llvmy_mondo_relaxed.owl monosomy 20q11|Del(20)(q11.2) Orphanet:444051|UMLS:CN237681|ICD10:Q93.5 owl:Class MONDO:0001732 biolink:NamedThing trigonitis Inflammation of the trigone of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl inflammation of trigone of urinary bladder|trigone of urinary bladder inflammation ICD10:N30.3|UMLS:C1261278|NCIT:C123175|DOID:13507|SCTID:74445007|ICD9:595.3 owl:Class MONDO:0003603 biolink:NamedThing non-functioning pituitary gland neoplasm A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. tmpak2llvmy_mondo_relaxed.owl non-functioning tumor of pituitary|non-functioning pituitary gland neoplasm|non-functioning pituitary gland tumor|non-functioning tumor of the pituitary gland|non-functioning neoplasm of the pituitary gland|non-functioning endocrine neoplasm of pituitary gland|non-functioning neoplasm of pituitary gland|non-functioning tumor of pituitary gland|pituitary gland non-functioning endocrine neoplasm|non-functioning pituitary tumor|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning neoplasm of the pituitary|Nonfunctioning pituitary tumor|non-functioning neoplasm of pituitary|non-functioning pituitary neoplasm SCTID:448563005|NCIT:C4009 owl:Class MONDO:0011699 biolink:NamedThing inflammatory bowel disease 8 An inflammatory bowel disease that has material basis in variation in the chromosome region 16p. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 8|IBD8|inflammatory bowel disease 8 MESH:C564682|DOID:0110904|UMLS:C1847719|OMIM:606668 owl:Class UBERON:0009618 biolink:NamedThing trunk paraxial mesoderm tmpak2llvmy_mondo_relaxed.owl trunk and cervical paraxial mesenchyme|trunk paraxial mesenchyme owl:Class MONDO:0013418 biolink:NamedThing aortic aneurysm, familial thoracic 7 tmpak2llvmy_mondo_relaxed.owl AAT7|aortic aneurysm, familial thoracic 7|aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic type 7 UMLS:C3151077|OMIM:613780 owl:Class MONDO:0016877 biolink:NamedThing partial deletion of the long arm of chromosome 12 tmpak2llvmy_mondo_relaxed.owl partial deletion of the long arm of chromosome type 12|partial monosomy of the long arm of chromosome 12|partial monosomy of chromosome 12q|partial deletion of chromosome 12q ICD10:Q93.5|Orphanet:261821 owl:Class MONDO:0017277 biolink:NamedThing partial deletion of chromosome 12 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 12|partial deletion of chromosome type 12 Orphanet:282124|ICD10:Q93.5 owl:Class MONDO:0013558 biolink:NamedThing Hermansky-Pudlak syndrome 6 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome type 6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6|Hermansky-Pudlak syndrome 6 NCIT:C150369|UMLS:C3888007|OMIM:614075|DOID:0060544 owl:Class MONDO:0018414 biolink:NamedThing female infertility due to an implantation defect of genetic origin tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:N97.2|Orphanet:400025 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0018403 biolink:NamedThing female infertility due to an implantation defect tmpak2llvmy_mondo_relaxed.owl rare female infertility due to an implantation defect 2022-03-01 ICD10:N97.2|Orphanet:399882 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0044881 biolink:NamedThing hematopoietic and lymphoid cell neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. tmpak2llvmy_mondo_relaxed.owl hematopoietic tumor|hematopoietic cancer|malignant hematopoietic neoplasm|malignant hematologic neoplasm|hematopoietic malignancy, NOS|hematologic cancer|hematopoietic neoplasms including Lymphomas|hematological neoplasm|hematologic neoplasm|hematopoietic and lymphoid cell neoplasm|hematopoietic cell tumor|hematopoietic neoplasm|hematologic malignancy|HEMOLYMPHORETICULAR tumor, malignant|hematological tumor|hematopoietic and lymphoid neoplasms|hematopoietic, Including myeloma NCIT:C27134 owl:Class UBERON:0012359 biolink:NamedThing pedal digitopodium bone A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton. tmpak2llvmy_mondo_relaxed.owl bone of hindlimb digitopodium owl:Class MONDO:0001281 biolink:NamedThing alternating exotropia A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. tmpak2llvmy_mondo_relaxed.owl DOID:1142|ICD10:H50.15|ICD9:378.15|UMLS:C0152207|SCTID:37214009 owl:Class MONDO:0001286 biolink:NamedThing exotropia A form of strabismus in which the eyes are deviated laterally. tmpak2llvmy_mondo_relaxed.owl divergent strabismus|divergent concomitant strabismus DOID:1143|ICD9:378.1|ICD9:378.10|MESH:D005099|ICD10:H50.10|NCIT:C34601|UMLS:C0015310|ICD10:H50.1|SCTID:399252000 owl:Class MONDO:0003865 biolink:NamedThing acral lentiginous melanoma A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. tmpak2llvmy_mondo_relaxed.owl palmar/plantar melanoma|acral lentiginous melanoma, malignant|acral lentiginous malignant melanoma of skin|acral melanoma|subungual melanoma|acral lentiginous malignant melanoma|acral lentiginous melanoma (disease)|malignant acral lentiginous melanoma|acral lentiginous melanoma|acral lentiginous melanoma, malignant (morphologic abnormality)|ALM acral lentiginous melanoma (disease) DOID:6367|ONCOTREE:ACRM|NCIT:C4022|ICDO:8744/3|HP:0012060|GARD:0009570|UMLS:C0346037|SCTID:254732008 Editor note: check ONCOTREE mapping owl:Class CHEBI:25703 biolink:NamedThing organic phosphate tmpak2llvmy_mondo_relaxed.owl organophosphate ester|organic phosphate ester|organic phosphates|organic phosphate esters|organophosphate esters|organic phosphate owl:Class CHEBI:26020 biolink:NamedThing phosphate Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. tmpak2llvmy_mondo_relaxed.owl phosphates owl:Class MONDO:0010213 biolink:NamedThing xeroderma pigmentosum group E An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. tmpak2llvmy_mondo_relaxed.owl xeroderma pigmentosum group type E|xeroderma pigmentosum group E|xeroderma pigmentosum, complementation group type E|xeroderma pigmentosum V|XP group E|XP-E|XP5|xeroderma pigmentosum, type 5|XPE|XPe|XP, Group E|xeroderma pigmentosum, complementation group E|xeroderma pigmentosum 5 GARD:0005627|MESH:C564732|SCTID:56048001|UMLS:C1848411|DOID:0110846|NCIT:C114771|Orphanet:276261|OMIM:278740|ICD10:Q82.1 owl:Class CHEBI:24913 biolink:NamedThing isoprenoid Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. tmpak2llvmy_mondo_relaxed.owl isoprenoid|isoprenoids owl:Class UBERON:0005213 biolink:NamedThing outer renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl outer medullary interstitium|kidney outer medulla interstitium owl:Class UBERON:0005169 biolink:NamedThing interstitial tissue connective tissue between the cellular elements of a structure. tmpak2llvmy_mondo_relaxed.owl interstitium owl:Class MONDO:0020847 biolink:NamedThing intellectual disability, autosomal dominant 58 tmpak2llvmy_mondo_relaxed.owl MRD58|MENTAL RETARDATION, autosomal dominant 58 OMIM:618106 owl:Class MONDO:0023263 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl GAPDH deficiency GARD:0002510|HGNC:4141|MESH:C536837|UMLS:C1291264 https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency owl:Class MONDO:0002860 biolink:NamedThing testis rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. tmpak2llvmy_mondo_relaxed.owl testicular rhabdomyosarcoma|rhabdomyosarcoma (disease) of testis|rhabdomyosarcoma of testis|testis rhabdomyosarcoma (disease)|rhabdomyosarcoma of the testis NCIT:C6378|UMLS:C1336726|DOID:4061 owl:Class MONDO:0002861 biolink:NamedThing testis sarcoma A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. tmpak2llvmy_mondo_relaxed.owl sarcoma of testis|sarcoma of the testis|testicular sarcoma|testis sarcoma UMLS:C1336727|NCIT:C6359|DOID:4062 owl:Class MONDO:0032934 biolink:NamedThing genitourinary and/or brain malformation syndrome tmpak2llvmy_mondo_relaxed.owl GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME|GUBS|genitourinary and/or brain malformation syndrome OMIM:618820 owl:Class MONDO:0021493 biolink:NamedThing benign neoplasm of minor salivary gland A benign neoplasm that involves the minor salivary gland. tmpak2llvmy_mondo_relaxed.owl benign minor salivary gland tumor|benign neoplasm of the minor salivary gland|minor salivary gland benign neoplasm|benign minor salivary gland neoplasm|benign tumor of the minor salivary gland|benign tumor of minor salivary gland UMLS:C0345615|NCIT:C4411|SCTID:92220004|ICD9:210.4 owl:Class GO:0003073 biolink:NamedThing regulation of systemic arterial blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008217 biolink:NamedThing regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpak2llvmy_mondo_relaxed.owl control of blood pressure|blood pressure regulation|blood pressure homeostasis owl:Class HP:0001155 biolink:NamedThing Abnormality of the hand An abnormality affecting one or both hands. tmpak2llvmy_mondo_relaxed.owl Abnormality of the hand|Hand anomalies|Hand deformities|Abnormal hands UMLS:C0018564|MSH:D006226|SNOMEDCT_US:299033004 HP:0005858 human_phenotype owl:Class GO:0045830 biolink:NamedThing positive regulation of isotype switching Any process that activates or increases the frequency, rate or extent of isotype switching. tmpak2llvmy_mondo_relaxed.owl positive regulation of class switching|positive regulation of class switch recombination|stimulation of isotype switching|up regulation of isotype switching|upregulation of isotype switching|up-regulation of isotype switching|activation of isotype switching|positive regulation of isotype switch recombination owl:Class MONDO:0012830 biolink:NamedThing chromosome 10q23 deletion syndrome 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. tmpak2llvmy_mondo_relaxed.owl chromosome 10q22.3-q23.2 deletion syndrome|10q22.3q23.3 microdeletion syndrome|juvenile polyposis, infantile|deletion 10q22.3q23.3|juvenile polyposis of infancy|chromosome 10q23 deletion syndrome|monosomy 10q22.3q23.3|Del(10)(q22.3q23.3)|chromosome 10Q22.3-q23.2 deletion syndrome|10q22.3q23 microdeletion syndrome Orphanet:276413|OMIM:612242|UMLS:CN202618|UMLS:C2677102|MESH:C567385|GARD:0013018|ICD10:Q93.5|DOID:0060389 owl:Class HP:0002715 biolink:NamedThing Abnormality of the immune system An abnormality of the immune system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the immune system|Immunological abnormality UMLS:C4021753 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. HP:0010986|HP:0003257|HP:0003346 human_phenotype owl:Class HGNC:23143 biolink:NamedThing SYT14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007810 biolink:NamedThing autosomal dominant ichthyosis vulgaris Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. tmpak2llvmy_mondo_relaxed.owl ichthyosis simplex|ichthyosis vulgaris, autosomal dominant|ichthyosis vulgaris|dominant congenital ichthyosiform erythroderma|dominant ichthyosis vulgaris|autosomal dominant ichthyosis vulgaris GARD:0001897|ICD10:Q80.0|MESH:D016112|OMIM:146700|SCTID:254157005|UMLS:C0079584|DOID:1702 owl:Class MONDO:0004263 biolink:NamedThing pediatric infratentorial ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|pediatric infratentorial ependymoblastoma|childhood infratentorial ependymoblastoma DOID:7522|UMLS:C1332972|NCIT:C6773 owl:Class MONDO:0001433 biolink:NamedThing vaginal disease A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl vaginal disease|disorder of vagina|vagina disease|vaginal disorder|vagina disease or disorder|disease of vagina|disease or disorder of vagina SCTID:25658005|MESH:D014623|NCIT:C26910|DOID:121|UMLS:C0042251 owl:Class MONDO:0005625 biolink:NamedThing cerebral malaria A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. tmpak2llvmy_mondo_relaxed.owl malarial encephalitis Wikipedia:Malaria|EFO:0006857|ICD9:084.9|DOID:14069|SCTID:53622003|UMLS:C0024534|MESH:D016779|NCIT:C128373|ICD10:B50.0 owl:Class PATO:0001545 biolink:NamedThing inflexible A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. tmpak2llvmy_mondo_relaxed.owl stiff|stiffness owl:Class PATO:0001543 biolink:NamedThing flexibility A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010314 biolink:NamedThing polymicrogyria, bilateral perisylvian, X-linked tmpak2llvmy_mondo_relaxed.owl polymicrogyria, bilateral perisylvian, X-linked|PMGX|BPPX|BPP|perisylvian syndrome, congenital bilateral OMIM:300388|SCTID:438583008 owl:Class MONDO:0020340 biolink:NamedThing bilateral perisylvian polymicrogyria tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|Orphanet:98889|GARD:0006011 owl:Class CL:0002033 biolink:NamedThing short term hematopoietic stem cell A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. tmpak2llvmy_mondo_relaxed.owl ST-HSC|ST stem cell Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. tmeehan 2010-01-08T09:19:25Z cell owl:Class CL:0001008 biolink:NamedThing Kit and Sca1-positive hematopoietic stem cell A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. tmpak2llvmy_mondo_relaxed.owl Sca1-positive hematopoietic stem cell|LSK stem cell Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). cell owl:Class MONDO:0006880 biolink:NamedThing oral leukoedema A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl leukedema of mouth DOID:4557|UMLS:C0023523|MESH:D007967|ICD9:528.79|SCTID:67795000|EFO:1001075|MedDRA:10057365 owl:Class MONDO:0016369 biolink:NamedThing Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. tmpak2llvmy_mondo_relaxed.owl poikiloderma of Rothmund-Thomson type 2|RTS2 OMIM:268400|UMLS:CN201234|Orphanet:221016|ICD10:Q82.8 owl:Class UBERON:0035450 biolink:NamedThing cervical part of esophagus Clinical esophageal segment composed of skeletal muscle. It corresponds to the superior part of the upper third topographic segment of the esophagus. tmpak2llvmy_mondo_relaxed.owl pars colli oesophageae|cervical esophagus|pars cervicalis (oesophagus)|cervical part of oesophagus|pars cervicalis oesophageae owl:Class MONDO:0001230 biolink:NamedThing acute orbital inflammation tmpak2llvmy_mondo_relaxed.owl acute inflammation of orbit ICD9:376.00|ICD10:H05.00|ICD10:H05.0|SCTID:20551005|DOID:11230|ICD9:376.0 owl:Class MONDO:0021005 biolink:NamedThing faciodigitogenital syndrome A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome. tmpak2llvmy_mondo_relaxed.owl Aarskog syndrome|Aarskog-Scott syndrome|faciogenital dysplasia MedDRA:10067148|ICD10:Q87.1 owl:Class HGNC:10808 biolink:NamedThing SGCE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018242 biolink:NamedThing autoimmune hypoparathyroidism An autoimmune form of hypoparathyroidism. tmpak2llvmy_mondo_relaxed.owl autoimmune hypoparathyroidism (disease)|autoimmune hypoparathyroidism autoimmune hypoparathyroidism (disease) ICD10:E20.8|Orphanet:36913|UMLS:C0271865|SCTID:75316000|HP:0011771 owl:Class MONDO:0007584 biolink:NamedThing exostoses-anetodermia-brachydactyly type E syndrome Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl exostoses with anetodermia and brachydactyly, type E UMLS:C1851428|ICD10:Q87.5|OMIM:133690|Orphanet:1962|MESH:C565034 owl:Class MONDO:0007534 biolink:NamedThing Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. tmpak2llvmy_mondo_relaxed.owl Wiedemann-Beckwith syndrome|BWS|exomphalos-macroglossia-gigantism syndrome|Beckwith-Wiedemann syndrome chromosome region|EMG syndrome|Wiedemann-Beckwith syndrome (WBS)|Beckwith-Wiedemann syndrome|exomphalos macroglossia gigantism syndrome MedDRA:10050344|NCIT:C34415|MESH:D001506|Orphanet:116|DOID:5572|ICD9:759.89|SCTID:81780002|UMLS:C0004903|GARD:0003343|ICD10:Q87.3|OMIM:130650 https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome owl:Class MONDO:0012484 biolink:NamedThing prosopagnosia, hereditary An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl face blindness|prosopagnosia, developmental|prosopagnosia, congenital|hereditary prosopagnosia|developmental prosopagnosia|hereditary prosopagnosia (disease)|congenital prosopagnosia|prosopagnosia, hereditary GARD:0010035|OMIM:610382|UMLS:C2931455 owl:Class CHEBI:33309 biolink:NamedThing noble gas atom tmpak2llvmy_mondo_relaxed.owl Edelgase|gaz nobles|group VIII elements|noble gas|gas noble|group 18 elements|gases nobles|inert gases|Edelgas|rare gases|noble gases|gaz noble owl:Class CHEBI:33318 biolink:NamedThing main group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. tmpak2llvmy_mondo_relaxed.owl Hauptgruppenelemente|main group element|main group elements|Hauptgruppenelement owl:Class UBERON:0001824 biolink:NamedThing mucosa of larynx The mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx. tmpak2llvmy_mondo_relaxed.owl laryngeal mucosa|larynx organ mucosa|organ mucosa of larynx|tunica mucosa laryngis|larynx mucous membrane|mucous membrane of larynx|laryngeal mucous membrane|larynx mucosa of organ|mucosa of organ of larynx|larynx mucosa owl:Class UBERON:0000379 biolink:NamedThing tracheal mucosa A mucosa that is part of a respiratory airway. tmpak2llvmy_mondo_relaxed.owl organ mucosa of windpipe|tunica mucosa (tracheae)|organ mucosa of trachea|trachea mucous membrane|mucous membrane of windpipe|windpipe mucosa|windpipe mucous membrane|tracheal mucous membrane|mucosa of organ of windpipe|tunica mucosa tracheae|trachea mucosa|windpipe mucosa of organ|mucous membrane of trachea|mucosa of windpipe|trachea mucosa of organ|mucosa of organ of trachea|mucosa of trachea|trachea organ mucosa|windpipe organ mucosa owl:Class MONDO:0001946 biolink:NamedThing hyperestrogenism Abnormally high level of estrogen. tmpak2llvmy_mondo_relaxed.owl hyperestrogenism|estrogen Excess DOID:14336|EFO:0009004|ICD9:256.0|SCTID:37295009|ICD10:E28.0|UMLS:C0154209 Editor note: consider obsoleting and replacing with HPO class. Note the equivalent class in NCIT is a finding. owl:Class MONDO:0001889 biolink:NamedThing ovarian dysfunction The inability of the ovaries to function. tmpak2llvmy_mondo_relaxed.owl ovarian hypofunction|ovarian failure|ovarian insufficiency SCTID:37102008|DOID:1414|NCIT:C113351|ICD9:256.9|ICD10:E28|EFO:0009003|ICD9:256.39|ICD9:256.8|ICD9:256.3 owl:Class MONDO:0017591 biolink:NamedThing combined pulmonary fibrosis-emphysema syndrome tmpak2llvmy_mondo_relaxed.owl CPFE UMLS:CN203401|ICD10:J84.1|Orphanet:300564 owl:Class MONDO:0001847 biolink:NamedThing nuclear senile cataract A senile cataract that involves the lens nucleus. tmpak2llvmy_mondo_relaxed.owl senile cataract of lens nucleus|lens nucleus senile cataract|Senile nuclear sclerosis|Senile nuclear cataract SCTID:193589009|ICD9:366.16|DOID:13963 owl:Class MONDO:0004847 biolink:NamedThing senile cataract A cataract with no obvious cause occurring in persons over 50 years old. tmpak2llvmy_mondo_relaxed.owl SCTID:39450006|ICD9:366.10|ICD9:366.1|DOID:9669|ICD10:H25|NCIT:C35012 owl:Class UBERON:0010045 biolink:NamedThing 1st arch maxillary mesenchyme Mesenchyme that is part of a 1st arch maxillary component. tmpak2llvmy_mondo_relaxed.owl mesenchyme of maxillary component|maxillary component mesenchyme|maxillary mesenchyme owl:Class GO:0030103 biolink:NamedThing vasopressin secretion The regulated release of vasopressin from secretory granules into the blood. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015410 biolink:NamedThing nasal dorsum fistula/cyst tmpak2llvmy_mondo_relaxed.owl Orphanet:141219|ICD10:Q18.8 owl:Class HGNC:8725 biolink:NamedThing PCK2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:84124 biolink:NamedThing D-tyrosine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom. tmpak2llvmy_mondo_relaxed.owl D-tyrosine derivatives owl:Class CHEBI:62761 biolink:NamedThing tyrosine derivative An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. tmpak2llvmy_mondo_relaxed.owl tyrosine derivatives owl:Class PATO:0000947 biolink:NamedThing elliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. tmpak2llvmy_mondo_relaxed.owl oval|elliptical|ellipse-shaped|ovoid|ellipsoid owl:Class PATO:0002318 biolink:NamedThing superelliptic A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt tmpak2llvmy_mondo_relaxed.owl Lamé curve owl:Class FOODON:03315173 biolink:NamedThing fish product (unspecified species) A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish. tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F15173 SIREN DB annotation: * derives from 'skeletal meat part' (http://purl.obolibrary.org/obo/FOODON_03420175) http://langual.org subset_siren https://en.wikipedia.org/wiki/Fish_products Damion Dooley owl:Class GO:0031966 biolink:NamedThing mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009453 biolink:NamedThing immune deficiency disease tmpak2llvmy_mondo_relaxed.owl immune deficiency disease UMLS:C1855771|MESH:C565469|OMIM:242850 owl:Class CL:0000559 biolink:NamedThing promonocyte A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. tmpak2llvmy_mondo_relaxed.owl FMA:83551|BTO:0004657 Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class CL:0002194 biolink:NamedThing monopoietic cell A cell involved in the formation of a monocyte (monopoiesis). tmpak2llvmy_mondo_relaxed.owl FMA:83552 tmeehan 2010-08-30T01:27:48Z cell owl:Class MONDO:0014360 biolink:NamedThing developmental and epileptic encephalopathy, 21 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene. tmpak2llvmy_mondo_relaxed.owl NECAP1 early infantile epileptic encephalopathy|EIEE21|DEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1|epileptic encephalopathy, early infantile, type 21|epileptic encephalopathy, early infantile, 21 DOID:0080443|OMIM:615833|UMLS:C4014430 owl:Class MONDO:0002579 biolink:NamedThing orbit embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. tmpak2llvmy_mondo_relaxed.owl embryonal rhabdomyosarcoma of orbit|embryonal rhabdomyosarcoma of the orbit DOID:3258|NCIT:C6246|UMLS:C1335127 owl:Class MONDO:0022330 biolink:NamedThing 4-hydroxyphenylacetic aciduria tmpak2llvmy_mondo_relaxed.owl MESH:C535315|GARD:0008155 https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria owl:Class GO:1902106 biolink:NamedThing negative regulation of leukocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of immune cell differentiation|down regulation of leukocyte differentiation|downregulation of leucocyte differentiation|down regulation of leucocyte differentiation|down-regulation of leukocyte differentiation|downregulation of immune cell differentiation|negative regulation of immune cell differentiation|inhibition of leukocyte differentiation|downregulation of leukocyte differentiation|negative regulation of leucocyte differentiation|down regulation of immune cell differentiation|down-regulation of leucocyte differentiation|inhibition of leucocyte differentiation|down-regulation of immune cell differentiation owl:Class MONDO:0014658 biolink:NamedThing severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). tmpak2llvmy_mondo_relaxed.owl SADDAN dysplasia|severe achondroplasia with developmental delay and acanthosis nigricans|achondroplasia, severe, with developmental delay and acanthosis nigricans|SADDAN DOID:0111158|url:https://ghr.nlm.nih.gov/condition/saddan|GARD:0009443|ICD10:Q77.4|ICD9:783.40|ICD9:757.39|PMID:10053006|OMIM:616482|Orphanet:85165|SCTID:699870002 owl:Class MONDO:0033312 biolink:NamedThing schizophrenia 19 tmpak2llvmy_mondo_relaxed.owl schizophrenia 19 with or without an affective disorder|schizophrenia 19|SCZD19 DOID:0080281|UMLS:CN404275|OMIM:617629 owl:Class PO:0009010 biolink:NamedThing seed A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088). tmpak2llvmy_mondo_relaxed.owl semilla (Spanish, exact)|pyrene (narrow)|種子 (Japanese, exact)|diaspore (broad) PO_GIT:405 A seed generally develops from an ovule (PO:0020003) after fertilization, but may develop without fertilization in the case of apogamy (e.g., adventitious embryos or somatic embryos). A seed is a reproductive unit of seed plants (gymnosperms, angiosperms, and fossil pteridosperms). plant_anatomy owl:Class PO:0025496 biolink:NamedThing multi-tissue plant structure A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types. tmpak2llvmy_mondo_relaxed.owl 複数の組織からなる植物構造 (Japanese, exact)|estructura vegetal con múltiples tejidos (Spanish, exact) PO_GIT:480 Most multi-tissue plant structures have at least a small connection to other plant structures via a fiat boundary, such as where a leaf (PO:0025034) connects to a shoot axis (PO:0025029), a petal (PO:0009032) connects to a receptacle (PO:0009064), or a branch (PO:0025073) connects to a stem (PO:0009047). Refers to CARO:0000055 multi-tissue structure, def'n: Anatomical structure that has as parts two or more portions of tissue of at least two different types, and which through specific morphogenetic processes, form a single distinct structural unit demarcated by bona-fide boundries from other structural units of differnt types. Laurel_Cooper 2012-06-11T14:57:00Z plant_anatomy owl:Class MONDO:0004860 biolink:NamedThing vitreous disease A disease involving the vitreous humor. tmpak2llvmy_mondo_relaxed.owl vitreous humor disease or disorder|disorder of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease|disease of vitreous humor ICD10:H43.39|ICD9:379.24|DOID:9720|ICD10:H43.3 owl:Class MONDO:0013225 biolink:NamedThing congenital generalized lipodystrophy type 4 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. tmpak2llvmy_mondo_relaxed.owl lipodystrophy, congenital generalized, type 4|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|generalized congenital lipodystrophy type 4|CGL4|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|Brunzell syndrome AGPAT2-related|CAVIN1 congenital generalized lipodystrophy (disease)|BSCL4|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|generalized congenital lipodystrophy with myopathy|GCL4|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy Orphanet:228429|DOID:0111138|MESH:C567642|GARD:0010937|UMLS:C2750069|OMIM:613327|ICD10:E88.1 owl:Class MONDO:0001564 biolink:NamedThing binocular vision disease Any inability to efficiently utilize and/or sustain binocular vision. tmpak2llvmy_mondo_relaxed.owl simultaneous visual perception without fusion|binocular vision disorder ICD9:368.30|SCTID:83275001|ICD10:H53.30|NCIT:C34422|DOID:12667 owl:Class MONDO:0008280 biolink:NamedThing Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. tmpak2llvmy_mondo_relaxed.owl Peutz Jeghers polyposis|lentiginosis, perioral|polyposis, hamartomatous intestinal|Jeghers-Peutz syndrome|Peutz's syndrome|polyps and spots syndrome|Peutz-Jeghers small bowel hamartoma|Peutz-Jeghers polyp of small intestine|Peutz Jeghers colon polyp|Peutz-Jeghers syndrome|polyps-and-Spots syndrome|PJS|gastric Peutz-Jeghers polyp|periorificial lentiginosis syndrome|colonic hamartomatous polyp|hamartomatous intestinal polyposis ICD10:Q85.8|UMLS:C1333088|GARD:0007378|Orphanet:2869|MESH:D010580|UMLS:C0031269|DOID:3852|ICD9:759.6|OMIM:175200|MedDRA:10034764|SCTID:54411001|NCIT:C3324 https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome owl:Class MONDO:0008152 biolink:NamedThing multicentric carpo-tarsal osteolysis with or without nephropathy Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. tmpak2llvmy_mondo_relaxed.owl multicentric carpotarsal osteolysis syndrome|multicentric carpo-tarsal osteolysis with or without nephropathy|Carnevale canun Mendoza syndrome|multicentric osteolysis, autosomal dominant|MCTO|multicentric osteolysis nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy|idiopathic multicentric osteolysis with or without nephropathy OMIM:166300|MESH:C567171|GARD:0013042|Orphanet:2774|DOID:0111534|SCTID:766992008|GARD:0003818|UMLS:C2674705 https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy owl:Class UBERON:0010680 biolink:NamedThing pedal digit 1 phalanx cartilage element A cartilage element that is part of a pedal digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 1 phalanx cartilage element|pedal digit I phalanx cartilage element|hind limb digit 1 phalanx cartilage condensation owl:Class MONDO:0021206 biolink:NamedThing chronic non-suppurative otitis media Chronic form of non-suppurative otitis media. tmpak2llvmy_mondo_relaxed.owl non-suppurative otitis media, chronic SCTID:232254004|UMLS:C0395869|ICD9:381.3 owl:Class MONDO:0001212 biolink:NamedThing non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. tmpak2llvmy_mondo_relaxed.owl nonsuppurative otitis media UMLS:C0271446|SCTID:275481002|ICD10:H65.90|ICD10:H65|ICD10:H65.9|DOID:11180|ICD9:381.4 owl:Class CHEBI:33259 biolink:NamedThing elemental molecular entity A molecular entity all atoms of which have the same atomic number. tmpak2llvmy_mondo_relaxed.owl homoatomic entity|homoatomic molecular entity|homoatomic molecular entities owl:Class HGNC:11530 biolink:NamedThing TACSTD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012488 biolink:NamedThing hepatitis B virus, susceptibility to tmpak2llvmy_mondo_relaxed.owl HBV, susceptibility to|hepatitis b virus, susceptibility to|HBV, resistance to|Hepatitis B Virus, resistance to UMLS:C3552304|OMIM:610424 owl:Class MONDO:0020180 biolink:NamedThing palpebral piliary tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:98590|UMLS:CN207040 owl:Class MONDO:0014884 biolink:NamedThing cholestasis, progressive familial intrahepatic, 5 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. tmpak2llvmy_mondo_relaxed.owl NR1H4 progressive familial intrahepatic cholestasis|NR1H4 deficiency|cholestasis, progressive familial intrahepatic, 5|cholestasis, progressive familial intrahepatic, type 5|PFIC5|progressive familial intrahepatic cholestasis caused by mutation in NR1H4|cholestasis, progressive familial intrahepatic, 5; PFIC5 DOID:0070225|UMLS:C4310747|UMLS:CN776839|Orphanet:480476|OMIM:617049 MONDO:0018802 owl:Class MONDO:0009843 biolink:NamedThing hypomyelinating leukodystrophy 3 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. tmpak2llvmy_mondo_relaxed.owl hypomyelinating leukodystrophy 3|HLD3|leukodystrophy caused by mutation in AIMP1|AIMP1 leukodystrophy|perinatal Sudanophilic leukodystrophy|leukodystrophy, hypomyelinating, type 3|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|leukodystrophy, hypomyelinating, 3|hypomyelinating leukodystrophy type 3|leukodystrophy, hypomyelinating 3 UMLS:C1850053|OMIM:260600|Orphanet:280293|DOID:0060790|GARD:0004266|ICD10:E75.2|MESH:C536319 https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 owl:Class MONDO:0010188 biolink:NamedThing familial isolated deficiency of vitamin E Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. tmpak2llvmy_mondo_relaxed.owl VED|vitamin E, familial isolated deficiency OF|AVED|Friedreich-like ataxia|isolated vitamin E deficiency|Friedreich-like ataxia with selective vitamin E deficiency|ataxia with isolated vitamin E deficiency|ataxia with vitamin E deficiency|familial isolated deficiency of vitamin type E|familial isolated vitamin E deficiency|ataxia, Friedreich-like, with selective vitamin E deficiency SCTID:702442008|MESH:C535393|ICD9:334.3|ICD10:G11.1|MedDRA:10047631|Orphanet:96|GARD:0008595|DOID:0090028|ICD9:269.1|OMIM:277460 owl:Class GO:0007292 biolink:NamedThing female gamete generation Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001785 biolink:NamedThing land A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001311 biolink:NamedThing solid surface layer A surface layer which is composed primarily of solid environmental material. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044746 biolink:NamedThing zoonotic bacterial infection A bacterial infection that is transmitted from animals to people. tmpak2llvmy_mondo_relaxed.owl zoonotic bacterial infection|Bacteria zoonoses|zoonotic bacterial disease|Bacteria caused zoonoses NCIT:C35373|UMLS:C0311376 owl:Class MONDO:0016171 biolink:NamedThing polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies tmpak2llvmy_mondo_relaxed.owl Orphanet:208981|ICD10:G61.8 owl:Class MONDO:0013684 biolink:NamedThing vesicoureteral reflux 6 tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux 6|VUR6 UMLS:C3280441|OMIM:614319 owl:Class MONDO:0013085 biolink:NamedThing neuroblastoma, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl neuroblastoma, susceptibility to, 5|NBLST5 OMIM:613016 owl:Class MONDO:0018440 biolink:NamedThing autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. tmpak2llvmy_mondo_relaxed.owl AR dRTA|distal renal tubular acidosis (disease), autosomal recessive|autosomal recessive distal RTA|autosomal recessive distal renal tubular acidosis (disease) UMLS:C1864498|ICD10:N25.8|Orphanet:402041 owl:Class MONDO:0025139 biolink:NamedThing white muscle disease A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) tmpak2llvmy_mondo_relaxed.owl muscle diseases, White|diseases, White muscle|White muscle diseases|muscle disease, White|disease, White muscle UMLS:C0043153|MESH:D014912 owl:Class MONDO:0024965 biolink:NamedThing muscular dystrophy, non-human animal tmpak2llvmy_mondo_relaxed.owl dystrophies, animal muscular|animal muscular dystrophy|animal muscular dystrophies|dystrophy, animal muscular|muscular dystrophies, animal UMLS:C0026851|MESH:D009137 owl:Class GO:1905276 biolink:NamedThing regulation of epithelial tube formation Any process that modulates the frequency, rate or extent of epithelial tube formation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016553 biolink:NamedThing respiratory system mucus Any mucus produced by a mucosae of the respiratory system. This includes the mucus produced in the nasal cavity (nasal mucus) and mucus produced in the respiratory tract (phlegm). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002651 biolink:NamedThing anal Paget disease A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). tmpak2llvmy_mondo_relaxed.owl Paget's disease of the anus|anal Paget's disease|Paget's disease of anus|Paget disease of the anus|anus Paget disease|anus mammary Paget's disease|anal Paget disease NCIT:C5598|UMLS:C1332274|DOID:3446 owl:Class MONDO:0001843 biolink:NamedThing uterus interstitial leiomyoma tmpak2llvmy_mondo_relaxed.owl intramural leiomyoma of uterus ICD9:218.1|ICD10:D25.1|DOID:13955|UMLS:C0153994|SCTID:93616000 owl:Class HGNC:17098 biolink:NamedThing DICER1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010341 biolink:NamedThing autism, susceptibility to, X-linked 2 A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations). tmpak2llvmy_mondo_relaxed.owl susceptibility to X-linked autism 2|autism, susceptibility to, X-linked 2|AUTSX2|mental retardation, X-linked|autism, susceptibility to, X-linked type 2|intellectual disability, X-linked OMIM:300495|MESH:D038901 owl:Class MONDO:0002127 biolink:NamedThing urethral stricture Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. tmpak2llvmy_mondo_relaxed.owl urethral stricture|urethral stricture (disease) urethral stricture (disease) HP:0012227|ICD9:598.8|DOID:1829|SCTID:76618002|MESH:D014525|ICD9:598.9|UMLS:C0041974 owl:Class MONDO:0001556 biolink:NamedThing urethral obstruction Blockage of the normal flow of urine in the urethra. tmpak2llvmy_mondo_relaxed.owl urethral obstruction|obstruction of urethra|urethral obstruction (disease) urethral obstruction (disease) UMLS:C0041972|ICD9:599.69|SCTID:95588004|HP:0000796|MESH:D014524|DOID:12577 owl:Class MONDO:0013032 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 8 Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. tmpak2llvmy_mondo_relaxed.owl generalised epilepsy caused by mutation in CASR|susceptibility to idiopathic generalized epilepsy 8|epilepsy, idiopathic generalized, susceptibility to, 8|CASR generalised epilepsy|EIG8|epilepsy, idiopathic generalized, susceptibility to, type 8 DOID:0111322|OMIM:612899 owl:Class MONDO:0007275 biolink:NamedThing carpal tunnel syndrome Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. tmpak2llvmy_mondo_relaxed.owl carpal tunnel median neuropathy|CTS - carpal tunnel syndrome|CTS|carpal tunnel syndrome|amyotrophy, thenar, of carpal origin|median nerve entrapment ICD10:G56.00|ICD10:G56.0|NCIT:C34450|MESH:D002349|SCTID:57406009|ICD9:354.0|OMIMPS:115430|EFO:0004143|DOID:12169|UMLS:C0007286 owl:Class MONDO:0003615 biolink:NamedThing nerve compression syndrome Any nerve disorder caused by the entrapment and compression of a nerve. tmpak2llvmy_mondo_relaxed.owl compression neuropathy|peripheral nerve entrapment syndrome|entrapment neuropathy SCTID:45781009|DOID:573|MESH:D009408|NCIT:C27221 owl:Class MONDO:0100244 biolink:NamedThing paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009882 biolink:NamedThing plasma clot retraction factor, deficiency of tmpak2llvmy_mondo_relaxed.owl plasma clot retraction factor, deficiency of UMLS:C1849778|MESH:C564885|OMIM:262800 owl:Class MONDO:0041903 biolink:NamedThing gonococcal infection of joint tmpak2llvmy_mondo_relaxed.owl gonococcal infection of joint|gonococcal joint infection|gonococcal arthritis|gonococcal rheumatism SCTID:44743006|UMLS:C0153216 owl:Class MONDO:0100008 biolink:NamedThing food protein-induced enterocolitis syndrome An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. tmpak2llvmy_mondo_relaxed.owl delayed food allergy|FPIES 2018-06-22 21:10:26+00:00 owl:Class MONDO:0009172 biolink:NamedThing enterocolitis An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. tmpak2llvmy_mondo_relaxed.owl enterocolitis (disease)|enterocolitis enterocolitis (disease) NCIT:C79573|UMLS:C0014356|HP:0004387|EFO:1001481|MESH:D004760|ICD9:558.9|OMIM:226150|SCTID:43752006 owl:Class MONDO:0007344 biolink:NamedThing cluster headache, familial An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cluster headache syndrome|cluster headache, familial MESH:C566117|UMLS:C1861513|OMIM:119915 owl:Class MONDO:0006908 biolink:NamedThing pituitary apoplexy A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. tmpak2llvmy_mondo_relaxed.owl pituitary gland apoplexy ICD10:E23.6|MESH:D010899|ICD9:253.8|DOID:1129|MedDRA:10056447|EFO:1001108|UMLS:C0032001|SCTID:237701005|Orphanet:95613|NCIT:C26853 owl:Class UBERON:0014455 biolink:NamedThing subcutaneous abdominal adipose tissue Subcutaneous adipose tissue that is located in the abdominal region. tmpak2llvmy_mondo_relaxed.owl subcutaneous fat of abdominal region|abdominal subcutaneous adipose tissue|subcutaneous abdominal fat owl:Class MONDO:0000600 biolink:NamedThing nosophobia A specific phobia that involves an irrational fear of contracting a disease. tmpak2llvmy_mondo_relaxed.owl EFO:1001903|DOID:0060048 owl:Class MONDO:0018244 biolink:NamedThing obesity due to SIM1 deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E66.8|Orphanet:369873 owl:Class MONDO:0020491 biolink:NamedThing subcortical band heterotopia A developmental brain abnormality characterized by atypical migration of neurons during cortical development. tmpak2llvmy_mondo_relaxed.owl double cortex syndrome|subcortical laminar heterotopia|band heterotopia|HeCo|heterotopic cortex|Double cortex|familial band heterotopia UMLS:C4284594|Orphanet:99796|DOID:0111169|UMLS:C1848201|GARD:0002250|ICD10:Q04.3|NCIT:C116933|GARD:0001904 Editor note: check this hierarchy https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia owl:Class MONDO:0003141 biolink:NamedThing cerebellopontine angle embryonal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain. tmpak2llvmy_mondo_relaxed.owl primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|cerebellar Pontine angle primitive neuroectodermal tumor|primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal tumor|cerebellopontine angle primitive neuroectodermal|primitive neuroectodermal neoplasm of the C-P angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|C-P angle primitive neuroectodermal tumor|cerebellopontine angle PNET|primitive neuroectodermal tumor of cerebellopontine angle|cerebellopontine angle primitive neuroectodermal neoplasm|C-P angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of the cerebellopontine angle|primitive neuroectodermal neoplasm of C-P angle|cerebellar Pontine angle PNET|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellar Pontine angle|primitive neuroectodermal tumor of the C-P angle|cerebellar Pontine angle primitive neuroectodermal neoplasm|C-P angle PNET|primitive neuroectodermal neoplasm of the cerebellopontine angle DOID:4787|UMLS:C1332904|NCIT:C5436 owl:Class MONDO:0003107 biolink:NamedThing infratentorial cancer Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. tmpak2llvmy_mondo_relaxed.owl brain neoplasm, infratentorial|malignant infratentorial tumor|malignant infratentorial neoplasm|malignant infratentorial tumors|infratentorial neoplasms, malignant NCIT:C4966|DOID:4706|UMLS:C0751593|ICD10:C71.7|MESH:D015192 owl:Class MONDO:0003936 biolink:NamedThing invasive tubular breast carcinoma An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. tmpak2llvmy_mondo_relaxed.owl infiltrating tubular carcinoma of the breast|breast tubular adenocarcinoma|tubular carcinoma of the breast|infiltrating tubular carcinoma of breast|tubular carcinoma of breast|tubular breast cancer|tubular breast carcinoma|invasive tubular breast carcinoma|invasive tubular carcinoma of the breast|invasive tubular carcinoma of breast|infiltrating tubular breast carcinoma DOID:6587|UMLS:C1328544|NCIT:C9135 owl:Class MONDO:0012005 biolink:NamedThing growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy tmpak2llvmy_mondo_relaxed.owl growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy MESH:C564264|UMLS:C1842321|OMIM:608278 owl:Class MONDO:0009911 biolink:NamedThing prolactin deficiency, isolated tmpak2llvmy_mondo_relaxed.owl prolactin deficiency, isolated SCTID:67873006|MESH:C562708|ICD9:253.4|OMIM:264110 owl:Class HGNC:6307 biolink:NamedThing KDR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016053 biolink:NamedThing isolated cerebellar vermis hypoplasia Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. tmpak2llvmy_mondo_relaxed.owl Orphanet:199630|SCTID:766709000|ICD10:Q04.3 owl:Class MONDO:0020130 biolink:NamedThing malformation of the cerebellar vermis tmpak2llvmy_mondo_relaxed.owl Orphanet:98514 owl:Class NCBITaxon:376913 biolink:NamedThing Haplorrhini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9443 biolink:NamedThing Primates tmpak2llvmy_mondo_relaxed.owl primate|Primata|primates GC_ID:1 ncbi_taxonomy owl:Class HP:0033836 biolink:NamedThing Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. tmpak2llvmy_mondo_relaxed.owl Abnormal kidney arterial blood vessel morphology 2021-05-16 17:29:18+00:00 peter human_phenotype owl:Class HP:0033835 biolink:NamedThing Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. tmpak2llvmy_mondo_relaxed.owl 2021-05-16 17:27:46+00:00 peter human_phenotype owl:Class MONDO:0024660 biolink:NamedThing tubular adenoma A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum. tmpak2llvmy_mondo_relaxed.owl adenoma, tubular cell, benign|tubular adenoma UMLS:C0334292|ICDO:8211/0|SCTID:444408007|NCIT:C4133 owl:Class MONDO:0003427 biolink:NamedThing bronchus adenoma A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. tmpak2llvmy_mondo_relaxed.owl adenoma of bronchus|adenoma of the bronchus|bronchial adenoma NOS (morphologic abnormality)|peripheral papillary tumor of type II pneumocytes|bronchial adenoma|lung papillary adenoma|adenoma, bronchial, benign|type II pneumocyte adenoma|papillary adenoma of type II pneumocytes|bronchus adenoma NCIT:C3494|ICDO:8260/0|UMLS:C0149845|DOID:5391 owl:Class MONDO:0016445 biolink:NamedThing familial anetoderma Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. tmpak2llvmy_mondo_relaxed.owl hereditary anetoderma|hereditary macular atrophy SCTID:733467001|UMLS:C4518793|ICD10:L90.8|Orphanet:228277|UMLS:CN226934 owl:Class MONDO:0045022 biolink:NamedThing disorder of organic acid metabolism A disease that has its basis in the disruption of organic acid metabolic process. tmpak2llvmy_mondo_relaxed.owl organic acid metabolism disorder|disorder of organic acid metabolic process|organic acid metabolic process disease|disorder of organic acid metabolism SCTID:116021002|ICD9:277.89 owl:Class MONDO:0002088 biolink:NamedThing partial retinal vein occlusion tmpak2llvmy_mondo_relaxed.owl partial occlusion of retinal vein|partial retinal vein occlusion SCTID:65593009|NCIT:C35341|DOID:1726|UMLS:C0271080|ICD10:H34.82 owl:Class MONDO:0006951 biolink:NamedThing retinal vein occlusion An occlusion of the retinal vein. tmpak2llvmy_mondo_relaxed.owl occlusion, of retinal vein|retinal vein occlusion MedDRA:10038907|DOID:1727|NCIT:C34981|UMLS:C0035328|SCTID:46085004|MESH:D012170|EFO:1001157 owl:Class CHEBI:38099 biolink:NamedThing thiadiazoles tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007688 biolink:NamedThing anlage Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. tmpak2llvmy_mondo_relaxed.owl organ field|developmental field|field|future organ owl:Class MONDO:0007791 biolink:NamedThing familial hypocalciuric hypercalcemia 1 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. tmpak2llvmy_mondo_relaxed.owl Fhh1|hypocalciuric hypercalcemia, acquired|FHH type 1|hypercalcemia, familial benign type 1|familial hypocalciuric hypercalcemia type 1|hypercalcemia, familial benign|familial hypocalciuric hypercalcemia caused by mutation in CASR|HHC1|familial hypocalciuric hypercalcemia type I|CASR familial hypocalciuric hypercalcemia|hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia, familial, type I|familial benign hypercalcemia 1|familial benign hypercalcemia type 1|hypocalciuric hypercalcemia, familial, type 1|FBH1 OMIM:145980|DOID:0060700|Orphanet:93372|MedDRA:10068704|GARD:0002796|SCTID:704166007|ICD10:E83.5|MESH:C537145 owl:Class GO:0002884 biolink:NamedThing negative regulation of hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity. tmpak2llvmy_mondo_relaxed.owl down regulation of hypersensitivity|down-regulation of hypersensitivity|inhibition of hypersensitivity|downregulation of hypersensitivity owl:Class MONDO:0004176 biolink:NamedThing childhood extraosseous osteosarcoma An osteosarcoma arising from the soft tissue, and occurring during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric extraosseous osteosarcoma|extraosseous osteosarcoma of childhood|childhood extraskeletal osteosarcoma|pediatric extraskeletal osteosarcoma|childhood extraosseous osteosarcoma UMLS:C1332968|NCIT:C27376|DOID:7297 owl:Class MONDO:0002623 biolink:NamedThing pediatric osteosarcoma An osteosarcoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl osteosarcoma|childhood osteosarcoma|childhood osteosarcoma (disease)|childhood osteogenic sarcoma|pediatric osteosarcoma (disease)|pediatric osteosarcoma|osteosarcoma (disease) of childhood DOID:3361|NCIT:C6585|UMLS:C1332986 owl:Class MONDO:0009766 biolink:NamedThing oculocerebral hypopigmentation syndrome of Preus tmpak2llvmy_mondo_relaxed.owl oculocerebral hypopigmentation syndrome of Preus|oculocerebral hypopigmentation syndrome type Preus UMLS:C2931646|GARD:0004034|OMIM:257790|Orphanet:2720|SCTID:716174001 owl:Class MONDO:0700085 biolink:NamedThing pentasomy A chromosomal anomaly consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0009664 biolink:NamedThing mulibrey nanism A prenatal onset growth disorder with multiorgan manifestations. tmpak2llvmy_mondo_relaxed.owl muscle-liver-brain-eye nanism|Perheentupa syndrome|mulibrey dwarfism|mulibrey nanism|pericardial constriction and growth failure|MUL|pericardial constriction and Growth failure|pericardial constriction-growth failure syndrome DOID:0050436|ICD10:Q87.1|OMIM:253250|GARD:0000095|Orphanet:2576|NCIT:C84906|UMLS:C2931895|ICD9:759.89|SCTID:81604003|UMLS:C0524582|MESH:D050336 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism owl:Class HGNC:6902 biolink:NamedThing MASP2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35230 biolink:NamedThing fossil fuel A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth. tmpak2llvmy_mondo_relaxed.owl fossil fuel owl:Class CHEBI:33292 biolink:NamedThing fuel An energy-rich substance that can be transformed with release of usable energy. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007285 biolink:NamedThing presumptive paraxial mesoderm The part of the blastula that has the potential to develop into a paraxial mesoderm. tmpak2llvmy_mondo_relaxed.owl future paraxial mesenchyme|future paraxial mesoderm owl:Class MONDO:0013194 biolink:NamedThing Pseudopili annulati tmpak2llvmy_mondo_relaxed.owl Pseudopili annulati OMIM:613241 owl:Class MONDO:0022799 biolink:NamedThing cold urticaria Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. tmpak2llvmy_mondo_relaxed.owl cold contact urticaria|urticaria idiopathic cold|primary idiopathic cold urticaria UMLS:C0221207|EFO:1001881|GARD:0006131|SCTID:74774004 https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria owl:Class MONDO:0000909 biolink:NamedThing Bartter disease type 4B A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. tmpak2llvmy_mondo_relaxed.owl Bartter disease type 4B|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|BARTS4B|neonatal Bartter syndrome type 4B with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, type 4B|Bartter syndrome, type 4b, digenic DOID:0110146|ICD10:E26.8|UMLS:C2751312|OMIM:613090 owl:Class MONDO:0019524 biolink:NamedThing infantile Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. tmpak2llvmy_mondo_relaxed.owl Bartter syndrome with sensorineural deafness|Bartter syndrome type 4|Bartter syndrome type IV UMLS:C3838860|Orphanet:89938|SCTID:700112007|GARD:0010508|ICD10:E26.8|UMLS:CN206343 owl:Class UBERON:0004382 biolink:NamedThing epiphysis of humerus An epiphysis that is part of a humerus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl humeral epiphysis owl:Class MONDO:0019775 biolink:NamedThing Chudley-Lowry-Hoar syndrome Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl Chudley intellectual disability syndrome|Chudley syndrome 1|intellectual disability-hypotonic facies syndrome X-linked, 1|SFM1|Chudley-Lowry syndrome|mental retardation-hypotonic facies syndrome X-linked, 1|Chudley mental retardation syndrome|Smith Fineman Myers syndrome 1|Chudley Lowry Hoar syndrome SCTID:717763008|GARD:0001357|Orphanet:93971|UMLS:CN206716 owl:Class HP:0007663 biolink:NamedThing Reduced visual acuity tmpak2llvmy_mondo_relaxed.owl Decreased clarity of vision|Decreased visual acuity|Poor visual acuity|Decreased central vision SNOMEDCT_US:13164000|UMLS:C0234632 HP:0008008|HP:0007969|HP:0007693|HP:0007739|HP:0001091 human_phenotype owl:Class MONDO:0019633 biolink:NamedThing relapsing fever Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. tmpak2llvmy_mondo_relaxed.owl ICD10:A68.1|ICD9:087|ICD10:A68.9|MESH:D012061|ICD10:A68|SCTID:420079008|ICD10:A68.0|ICD9:087.9|DOID:13034|UMLS:C0035021|MedDRA:10038300|Orphanet:91547 owl:Class MONDO:0020790 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis 1 tmpak2llvmy_mondo_relaxed.owl HGPPS1|HGPPS|Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM:607313 owl:Class MONDO:0008013 biolink:NamedThing chromosome 9p deletion syndrome Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. tmpak2llvmy_mondo_relaxed.owl chromosome 9p deletion|partial monosomy 9p|9p- syndrome|monosomy 9p syndrome|9p monosomy|Alfi syndrome|deletion 9p|chromosome 9p deletion syndrome|monosomy 9p|monosomy 9P syndrome|9p deletion|monosomy type 9p|9p syndrome|9p deletion syndrome GARD:0003773|ICD9:758.39|ICD10:Q93.5|SCTID:62599000|Orphanet:261112|DOID:0060732|OMIM:158170|MESH:C538024 owl:Class MONDO:0004297 biolink:NamedThing lymphoepithelioma-like thymic carcinoma A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. tmpak2llvmy_mondo_relaxed.owl thymic lymphoepithelioma-like carcinoma|lymphoepithelioma-like carcinoma of the Thymus|lymphoepithelioma-like carcinoma of Thymus|lymphoepithelial cancer of the Thymus|lymphoepithelial cancer of Thymus|lymphoepithelioma-like Thymus carcinoma|malignant lymphoepithelial thymoma|lymphoepithelioma-like thymic carcinoma|lymphoepithelial Thymus cancer DOID:7599|UMLS:C0279706|NCIT:C7998 owl:Class MONDO:0003572 biolink:NamedThing nasopharyngeal type undifferentiated carcinoma A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. tmpak2llvmy_mondo_relaxed.owl lymphoepithelioma-like carcinoma|lymphoepithelial carcinoma|Schminke tumor|nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma|Schmincke tumor DOID:5660|NCIT:C4107|ICDO:8082/3|UMLS:C0334254 owl:Class MONDO:0019154 biolink:NamedThing androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). tmpak2llvmy_mondo_relaxed.owl testicular feminization syndrome (formerly)|Goldberg-Maxwell syndrome|Goldberg - Maxwell syndrome|androgen resistance syndrome|dihydrotestosterone receptor deficiency|androgen receptor deficiency|AR deficiency|Morris syndrome|testicular feminization syndrome|androgen insensitivity syndrome|DHTR deficiency|testicular feminization|androgen-insensitivity syndrome|Feminisation - testicular|AIS MESH:D013734|ICD9:259.51|Orphanet:754|SCTID:12313004|DOID:4674|NCIT:C27226|ICD9:259.5|ICD10:E34.50|ICD10:E34.5|MedDRA:10056292|GARD:0005803|ICD10:E34.51|OMIM:300068|UMLS:C0039585|ICD9:259.8 https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome owl:Class MONDO:0015708 biolink:NamedThing immuno-osseous dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:169349|SCTID:254067002 owl:Class MONDO:0016599 biolink:NamedThing autosomal dominant secondary polycythemia Autosomal dominant form of secondary polycythemia. tmpak2llvmy_mondo_relaxed.owl secondary polycythemia, autosomal dominant|autosomal dominant secondary erythrocytosis ICD10:D75.1|UMLS:CN201790|Orphanet:247511 owl:Class MONDO:0020115 biolink:NamedThing secondary polycythemia Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). tmpak2llvmy_mondo_relaxed.owl secondary erythrocytosis|secondary polycythemia Orphanet:98428|NCIT:C27178|UMLS:C1318533|ICD10:D75.1|MedDRA:10036062 owl:Class MONDO:0009360 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 1 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. tmpak2llvmy_mondo_relaxed.owl CCDC88C congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive 1|HYC1|hydrocephaly|ventriculomegaly|congenital hydrocephalus caused by mutation in CCDC88C|hydrocephalus, nonsyndromic, autosomal recessive type 1 GARD:0006682|UMLS:C3887608|OMIM:236600 owl:Class NCBITaxon:487 biolink:NamedThing Neisseria meningitidis tmpak2llvmy_mondo_relaxed.owl Neisseria weichselbaumii|Diplokokkus intracellularis meningitidis|Micrococcus intracellularis|Micrococcus meningitidis cerebrospinalis|Micrococcus meningitidis GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:482 biolink:NamedThing Neisseria tmpak2llvmy_mondo_relaxed.owl Gonococcus|"Merismopedia" Zopf 1885 PMID:7520730|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0023513 biolink:NamedThing Jeune syndrome situs inversus tmpak2llvmy_mondo_relaxed.owl UMLS:C2931535|GARD:0000303|MESH:C537572 Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus owl:Class MONDO:0009162 biolink:NamedThing Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl Ellis Van Creveld syndrome|Ellis-van Creveld syndrome|Mesoectodermal dysplasia|EVC|Chondroectodermal dysplasia|mesodermic dysplasia|Ellis-VAN Creveld syndrome MedDRA:10008724|DOID:12714|ICD10:Q77.6|UMLS:C0013903|OMIM:225500|SCTID:62501005|ICD9:756.55|MESH:D004613|Orphanet:289|GARD:0001301|NCIT:C84684|UMLS:CN239258 https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome owl:Class MONDO:0018009 biolink:NamedThing non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. tmpak2llvmy_mondo_relaxed.owl hypertrophic gastropathy without hypoproteinemia Orphanet:329883|ICD10:K29.6 owl:Class MONDO:0020275 biolink:NamedThing oculocutaneous or ocular albinism Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. tmpak2llvmy_mondo_relaxed.owl Orphanet:98706|ICD10:E70.3 owl:Class MONDO:0003007 biolink:NamedThing childhood kidney cell carcinoma A renal cell carcinoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric renal cell carcinoma (disease)|pediatric renal cell carcinoma|renal cell cancer|renal cell carcinoma (disease) of childhood|childhood kidney cell carcinoma|childhood renal cell carcinoma (disease)|childhood renal cell carcinoma|pediatric kidney cell carcinoma UMLS:C1333001|NCIT:C6568|DOID:4454 owl:Class MONDO:0017385 biolink:NamedThing malignant migrating partial seizures of infancy A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. tmpak2llvmy_mondo_relaxed.owl MMPSI|malignant migrating Partial seizures in infancy|migrating Partial seizures in infancy|MPEI|MPSI|malignant migrating partial epilepsy of infancy|MMPEI|migrating partial seizures of infancy|migrating partial epilepsy of infancy UMLS:CN203114|UMLS:CN240507|Orphanet:293181|NCIT:C125387|GARD:0012919 owl:Class MONDO:0060711 biolink:NamedThing Jaberi-Elahi syndrome tmpak2llvmy_mondo_relaxed.owl Jaberi-Elahi syndrome|JABELS OMIM:617988|UMLS:CN244943 owl:Class MONDO:0005490 biolink:NamedThing large artery stroke Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. tmpak2llvmy_mondo_relaxed.owl EFO:0005524 Editor note: check this owl:Class CL:1000333 biolink:NamedThing serous cell of epithelium of lobular bronchiole A serous secreting cell that is part of the epithelium of bronchiole. tmpak2llvmy_mondo_relaxed.owl FMA:263084 cell owl:Class MONDO:0016821 biolink:NamedThing shoulder and girdle defects-familial intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl shoulder girdle defect intellectual disability familial|shoulder girdle defect mental retardation familial Orphanet:2580|ICD10:Q87.2|UMLS:CN227007|GARD:0004860 owl:Class MONDO:0015998 biolink:NamedThing isolated ectopia lentis Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. tmpak2llvmy_mondo_relaxed.owl nonsyndromic lens position anomaly|congenital ectopic lens|familial ectopia lentis|isolated lens position anomaly|IEL|ectopia lentis syndrome MESH:C536184|SCTID:74969002|DOID:0111148|GARD:0012251|ICD10:Q12.1|MedDRA:10014145|NCIT:C34566|Orphanet:1885|PMID:20141359 https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis owl:Class MONDO:0007881 biolink:NamedThing tooth agenesis, selective, 4 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. tmpak2llvmy_mondo_relaxed.owl tooth agenesis caused by mutation in WNT10A|tooth agenesis, selective, type 4|STHAG4|lateral incisors, absence of|lateral incisors, pegged or missing|tooth agenesis, selective, 4|WNT10A tooth agenesis|succedaneous teeth, agenesis of|tooth agenesis, selective, 4, with or without ectodermal dysplasia MESH:C563634|OMIM:150400 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0045008 biolink:NamedThing cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of cholesterol metabolic process|cholesterol metabolic process disease|disorder of cholesterol metabolism|cholesterol metabolism disease UMLS:C0342877|SCTID:123963007 Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) owl:Class MONDO:0100247 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:614080 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005362 biolink:NamedThing erectile dysfunction Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. tmpak2llvmy_mondo_relaxed.owl male sexual impotence|male impotence|sexual impotence (finding)|impotence, male sexual|erectile dysfunction (disease)|dysfunction, erectile|male erectile Disorder|impotence, male|sexual impotence, Male|impotence|erectile dysfunction|sexual impotence erectile dysfunction (disease) EFO:0004234|HP:0000802|SCTID:397803000|MESH:D007172|DOID:1875|NCIT:C34801 owl:Class UBERON:0003967 biolink:NamedThing cutaneous elastic tissue The slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity tmpak2llvmy_mondo_relaxed.owl dermal elastic fiber|cutaneous elastic fiber owl:Class MONDO:0000750 biolink:NamedThing dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. tmpak2llvmy_mondo_relaxed.owl SCTID:299709002|DOID:0060324|UMLS:C0518988|ICD10:K04.6 owl:Class MONDO:0024572 biolink:NamedThing immunodeficiency-related disorder A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. tmpak2llvmy_mondo_relaxed.owl Immunodepression-related disorder|Immunosuppression-related disorder|Immunosuppression disorders|immunodeficiency-related disorder NCIT:C35686|UMLS:C1334159 owl:Class MONDO:0019994 biolink:NamedThing maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpak2llvmy_mondo_relaxed.owl UPD(13)mat|maternal uniparental disomy of chromosome type 13 Orphanet:97678|UMLS:CN036719|ICD10:Q99.8 owl:Class UBERON:0013149 biolink:NamedThing hindbrain vesicle tmpak2llvmy_mondo_relaxed.owl rhombencephalic vesicle owl:Class MONDO:0018117 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis tmpak2llvmy_mondo_relaxed.owl Orphanet:352301|UMLS:CN227264 owl:Class HP:0001894 biolink:NamedThing Thrombocytosis Increased numbers of platelets in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl Increased number of platelets in blood|Thrombocythemia|Thrombocythaemia|Increased platelet count SNOMEDCT_US:6631009|UMLS:C0857460|MSH:D013922|UMLS:C0836924|SNOMEDCT_US:415115007 Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. human_phenotype owl:Class UBERON:0009114 biolink:NamedThing cervical thymus A mature thymus that is entirely part of the cervical region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014001 biolink:NamedThing Usher syndrome type 1K An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. tmpak2llvmy_mondo_relaxed.owl USHER syndrome, type IK|Usher syndrome type IK|USH1K UMLS:C3539124|DOID:0110837|OMIM:614990|ICD10:H35.5 owl:Class HGNC:4081 biolink:NamedThing GABRB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004601 biolink:NamedThing ulcer of lower limbs Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. tmpak2llvmy_mondo_relaxed.owl Ulcer of calf|Ulcer of heel and midfoot|Ulcer of thigh|Ulcer of ankle EFO:0007068|DOID:8529|ICD9:707.13|SCTID:419193008 owl:Class UBERON:0007521 biolink:NamedThing smooth muscle sphincter A ring of smooth muscle cells whose contraction closes the opening of the ring. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020065 biolink:NamedThing combined dystonia A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism). tmpak2llvmy_mondo_relaxed.owl dystonia-plus syndrome ICD10:G24.1|UMLS:CN206969|Orphanet:98203 owl:Class MONDO:0005473 biolink:NamedThing temporomandibular joint disorder Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. tmpak2llvmy_mondo_relaxed.owl TMD MESH:D013705|SCTID:41888000|ICD9:524.60|ICD9:524.69|EFO:0005279|NCIT:C63709 owl:Class NCBITaxon:6960 biolink:NamedThing Hexapoda tmpak2llvmy_mondo_relaxed.owl Atelocerata|Uniramia|Tracheata|insects|hexapods GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:197562 biolink:NamedThing Pancrustacea tmpak2llvmy_mondo_relaxed.owl PMID:11557979|GC_ID:1|PMID:10874751 ncbi_taxonomy owl:Class MONDO:0009399 biolink:NamedThing hyperphosphatemia, polyuria, and seizures tmpak2llvmy_mondo_relaxed.owl hyperphosphatemia, polyuria, and seizures UMLS:C1855922|MESH:C565494|OMIM:239350 owl:Class HP:0003198 biolink:NamedThing Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. tmpak2llvmy_mondo_relaxed.owl Myopathic changes|Muscle tissue disease MSH:D009135|UMLS:C0026848|SNOMEDCT_US:129565002 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. HP:0003802|HP:0003569|HP:0003742|HP:0003705 human_phenotype owl:Class HP:0011805 biolink:NamedThing Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. tmpak2llvmy_mondo_relaxed.owl Abnormally shaped muscle|Abnormal muscle morphology|Issue with muscle structure|Abnormality of muscle morphology UMLS:C4023181 peter 2012-04-25T02:00:34Z HP:0003735 human_phenotype owl:Class PATO:0002304 biolink:NamedThing increased process quality A quality of a process that has a value that is increased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017697 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form tmpak2llvmy_mondo_relaxed.owl GSD type 4, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|GSDIV, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form ICD10:E74.0|UMLS:C1856303|Orphanet:308655 owl:Class MONDO:0009292 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. tmpak2llvmy_mondo_relaxed.owl glycogenosis due to glycogen branching enzyme deficiency|GSD type 4|GSD IV, neuromuscular form, fatal perinatal|Gbe1 deficiency|GSD IV, neuromuscular form, adult, with isolated myopathy|glycogen storage disease, type IV|glycogen storage disease type 4|cirrhosis, familial, with deposition of abnormal glycogen|GSD due to glycogen branching enzyme deficiency|GSD IV, neuromuscular form, childhood|Andersen disease|glycogenosis 4|glycogenosis type 4|GSD 4|Andersen's disease|GSD IV|glycogen storage disease caused by mutation in GBE1|GSD IV, neuromuscular form, congenital|GSD IV, classic hepatic|GSD4|glycogen storage disease due to glycogen branching enzyme deficiency|GSD IV, nonprogressive hepatic|glycogen storage disease type IV|glycogenosis type IV|brancher deficiency|glycogen storage disease 4|GSD type IV|glycogen storage disease IV|amylopectinosis|glycogen branching enzyme deficiency|branching-transferase deficiency glycogenosis|GBE1 glycogen storage disease|deficiency of 1,4-alpha-glucan branching enzyme|brancher deficiency glycogenosis MedDRA:10053249|NCIT:C84737|ICD9:277.6|ICD10:E74.09|Orphanet:367|OMIM:232500|UMLS:CN204783|GARD:0002520|SCTID:124267007|DOID:2750|ICD10:E74.0|UMLS:C0017923 owl:Class ENVO:01000845 biolink:NamedThing crystal A solid material whose constituents, such as atoms, molecules or ions, are arranged in a highly ordered microscopic structure, forming a crystal lattice that extends in all directions. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015925 biolink:NamedThing interstitial lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. tmpak2llvmy_mondo_relaxed.owl interstitial lung disease|ILD EFO:0004244|UMLS:C0206062|GARD:0013336|MESH:D017563|Orphanet:182095|SCTID:233703007|MedDRA:10022611|DOID:3082|ICD10:J84.9 owl:Class MONDO:0012360 biolink:NamedThing congenital nongoitrous hypothryoidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. tmpak2llvmy_mondo_relaxed.owl thyrotropin resistance|congenital nongoitrous hypothyroidism 3|resistance to thyrotropin|hypothyroidism, congenital, nongoitrous, 3|CHNG3 OMIM:609893|MESH:C567935|DOID:0070127|UMLS:C2940785|ICD10:E03.1 owl:Class CL:0002303 biolink:NamedThing pigmented ciliary epithelial cell A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells. tmpak2llvmy_mondo_relaxed.owl PE FMA:70606 tmeehan 2010-09-13T04:09:27Z cell owl:Class CL:0005012 biolink:NamedThing multi-ciliated epithelial cell A ciliated epithelial cell with many cilium. tmpak2llvmy_mondo_relaxed.owl multiciliated cell|MCC|multiciliated epithelial cell|multi-ciliated cell cell owl:Class MONDO:0020792 biolink:NamedThing dwarfism with tall vertebrae tmpak2llvmy_mondo_relaxed.owl OMIM:126950 owl:Class MONDO:0006717 biolink:NamedThing cutaneous fibrous histiocytoma A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. tmpak2llvmy_mondo_relaxed.owl pleomorphic fibroma|benign cutaneous fibrous histiocytoma|benign fibrous histiocytoma of skin|fibrous histiocytoma of skin|sclerosing angioma of skin|fibrohistiocytic tumor|sclerosing angioma|sclerosing angioma (morphologic abnormality)|fibrohistiocytic neoplasm|DF|fibrous xanthoma of skin|dermatofibroma, no ICD-O subtype|cutaneous fibrous histiocytoma|dermatofibroma, no ICD-O subtype (morphologic abnormality)|benign fibrous cutaneous histiocytoma|benign fibrous histiocytoma of the skin|fibrous histiocytoma of the skin|benign skin fibrous histiocytoma|dermatofibroma NCIT:C6801|ICDO:8832/0|UMLS:C0346049|ONCOTREE:DF|EFO:1000885|UMLS:C0002991|SCTID:448015002|DOID:4418 owl:Class MONDO:0002989 biolink:NamedThing benign fibrous histiocytoma A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. tmpak2llvmy_mondo_relaxed.owl benign fibrous histiocytoma|histiocytoma, fibrous, benign|fibrous histiocytoma NOS (morphologic abnormality)|benign fibrous histiocytoma (morphologic abnormality)|fibrous histiocytoma|fibroxanthoma NOS (morphologic abnormality)|fibroxanthoma MESH:D018219|ICDO:8830/0|UMLS:C0206644|DOID:4415|NCIT:C3739 owl:Class MONDO:0022471 biolink:NamedThing childhood aortic valve stenosis tmpak2llvmy_mondo_relaxed.owl aortic valves stenosis of the child GARD:0000744 https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child owl:Class MONDO:0019388 biolink:NamedThing pelvis syndrome PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. tmpak2llvmy_mondo_relaxed.owl perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|lumbar syndrome|Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|urorectal septum malformation sequence ICD10:Q87.8|UMLS:C4510867|SCTID:725138002|Orphanet:83628|UMLS:CN206083 owl:Class MONDO:0018718 biolink:NamedThing vascular tumor with associated anomalies tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN242155|Orphanet:458827 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular neoplasm' MONDO_0024296 owl:Class CL:1000507 biolink:NamedThing kidney tubule cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001020 cell owl:Class HP:0002242 biolink:NamedThing Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. tmpak2llvmy_mondo_relaxed.owl Enteropathy|Abnormality of the intestine MSH:D007410|SNOMEDCT_US:85919009|UMLS:C0021831 HP:0002628 human_phenotype owl:Class HP:0012718 biolink:NamedThing Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of the digestive system|Morphological anomaly of the digestive system|Morphological abnormality of the GI tract UMLS:C4021073 peter 2014-03-23T01:09:02Z human_phenotype owl:Class UBERON:0000376 biolink:NamedThing hindlimb stylopod The part of the hindlimb between pelvis and the knee, corresponding to the femur. tmpak2llvmy_mondo_relaxed.owl hindlimb stylopod|thigh|hind limb stylopod|upper leg|hind propodium|hind limb stylopodium|proximal segment of free lower limb|hindlimb propodium|hindlimb stylopodium|femur|stylopod of hindlimb|stylopod of hind limb|stylopod of lower limb owl:Class UBERON:0002472 biolink:NamedThing stylopod The proximal free limb segment. Includes as parts the stylopod skeleton. tmpak2llvmy_mondo_relaxed.owl stylopodium|stylopodial limb segment|proximal segment of free limb|propodium|proximal part of limb|proximal free limb segment owl:Class MONDO:0016332 biolink:NamedThing hypertrophic cardiomyopathy due to intensive athletic training tmpak2llvmy_mondo_relaxed.owl UMLS:CN226904|ICD10:I42.2|Orphanet:217601 owl:Class MONDO:0016330 biolink:NamedThing non-familial hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired hypertrophic cardiomyopathy Orphanet:217598|UMLS:CN226903 owl:Class MONDO:0019579 biolink:NamedThing discrete papular lichen myxedematosus Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. tmpak2llvmy_mondo_relaxed.owl SCTID:717258005|ICD10:L98.5|Orphanet:90394|UMLS:C4273967 owl:Class GO:0042068 biolink:NamedThing regulation of pteridine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpak2llvmy_mondo_relaxed.owl regulation of pteridine metabolism owl:Class MONDO:0006785 biolink:NamedThing Henoch-Schoenlein purpura A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. tmpak2llvmy_mondo_relaxed.owl allergic purpura|HSP|Henoch-Schonlein purpura|Henoch-Schönlein purpura|autoimmune purpura|Henoch-Schoenlein purpura|Schoenlein-Henoch purpura|Henoch-Scholein purpura|purpura, autoimmune ICD9:287.0|ICD10:D69.0|MESH:D011695|NCIT:C34963|EFO:1000965|DOID:11123|SCTID:191306005 owl:Class MONDO:0006794 biolink:NamedThing hypersensitivity vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. tmpak2llvmy_mondo_relaxed.owl leukocytoclastic vasculitis EFO:1000974|ICD9:446.20|ICD9:446.2|ICD9:446.29|MedDRA:10020764|ICD10:D69.0|NCIT:C82863|SCTID:60555002|DOID:9809|ICD10:M31.0 owl:Class UBERON:0003828 biolink:NamedThing abdominal segment bone A bone that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdominal segment of trunk bone|bone organ of abdominal segment of trunk|abdominal segment of trunk bone organ|bone of abdominal segment of trunk owl:Class MONDO:0042983 biolink:NamedThing neurocutaneous syndrome A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. tmpak2llvmy_mondo_relaxed.owl neuroectodermal dysplasia syndrome|neuroectodermal dysplasia syndromes|phakomatosis|Phacomatoses|syndrome, neuroectodermal dysplasia|Phacomatosis|neurocutaneous syndrome|neurocutaneous disorder|neurocutaneous disorders|syndromes, neuroectodermal dysplasia|syndromes, neurocutaneous|neuroectodermal dysplasia|syndrome, neurocutaneous|Phakomatoses NCIT:C84348|MESH:D020752|SCTID:78572006|UMLS:C0265316 A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category owl:Class MONDO:0016260 biolink:NamedThing uterine corpus rhabdomyosarcoma A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl body of uterus rhabdomyosarcoma|rhabdomyosarcoma of the corpus uteri|body of uterus rhabdomyosarcoma (disease)|uterine corpus rhabdomyosarcoma|rhabdomyosarcoma (disease) of body of uterus NCIT:C127058|UMLS:C4288047|Orphanet:213615|ICD10:C54.2 owl:Class GO:0043124 biolink:NamedThing negative regulation of I-kappaB kinase/NF-kappaB signaling Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. tmpak2llvmy_mondo_relaxed.owl negative regulation of I-kappaB kinase/NF-kappaB cascade|downregulation of I-kappaB kinase/NF-kappaB cascade|inhibition of I-kappaB kinase/NF-kappaB cascade|down-regulation of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade owl:Class HGNC:2280 biolink:NamedThing COX6B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017281 biolink:NamedThing renal caliceal diverticuli-deafness syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN202834|Orphanet:2838 owl:Class MONDO:0018926 biolink:NamedThing human prion disease Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ). tmpak2llvmy_mondo_relaxed.owl TSE|transmissible spongiform encephalopathy ICD10:A81.0|ICD10:A81.9|Orphanet:56970|ICD10:A81.8|ICD10:A81.1 owl:Class MONDO:0012908 biolink:NamedThing complement component 6 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. tmpak2llvmy_mondo_relaxed.owl complement component 6 deficiency|C6D|C6 deficiency|C6 classic complement early component deficiency|classic complement early component deficiency caused by mutation in C6|complement component 6 deficiency, subtotal|C6 deficiency, subtotal DOID:0060299|OMIM:612446|ICD10:D84.1|UMLS:C2676232 owl:Class HGNC:7392 biolink:NamedThing MSX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014177 biolink:NamedThing myopia 22, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP22|myopia 22, autosomal dominant UMLS:C3809464|OMIM:615420 owl:Class MONDO:0008891 biolink:NamedThing riboflavin transporter deficiency A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. tmpak2llvmy_mondo_relaxed.owl disorder of riboflavin transmembrane transporter activity|progressive bulbar palsy with sensorineural deafness|Fazio-Londe syndrome|Brown-Vialetto-van Laere syndrome|BVVLS|riboflavin transmembrane transporter activity disease|BVVLS1|pontobulbar palsy and neurosensory deafness|sensorineural hearing loss-pontobulbar palsy syndrome|Brown-Vialetto-Van Laere syndrome 1 OMIMPS:211530|Orphanet:97229|SCTID:699866005|ICD10:G12.1|GARD:0009993|DOID:0050694|MESH:C537111 https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency owl:Class MONDO:0000943 biolink:NamedThing acute hydrops keratoconus tmpak2llvmy_mondo_relaxed.owl keratoconus, acute hydrops|acute hydrops of cornea|acute corneal hydrops DOID:10125|UMLS:C0339286|ICD9:371.62|SCTID:111523009 owl:Class NCBITaxon:28211 biolink:NamedThing Alphaproteobacteria tmpak2llvmy_mondo_relaxed.owl a-proteobacteria|alpha proteobacteria|Alphabacteria|alpha subdivision|Purple bacteria, alpha subdivision|alpha subgroup|Proteobacteria alpha subdivision GC_ID:11|PMID:16166687|PMID:11837318|PMID:11541974|PMID:16403855|PMID:19060069 ncbi_taxonomy owl:Class MONDO:0015735 biolink:NamedThing severe congenital nemaline myopathy Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. tmpak2llvmy_mondo_relaxed.owl severe congenital (neonatal) NM Orphanet:171430|ICD10:G71.2|GARD:0012821 https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy owl:Class MONDO:0013046 biolink:NamedThing glycogen storage disease due to muscle beta-enolase deficiency Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. tmpak2llvmy_mondo_relaxed.owl GSD 13|glycogen storage disease XIII|glycogenosis type 13|enolase 3 deficiency|glycogen storage disease 13|enolase-Beta deficiency|muscle enolase deficiency|GSD due to muscle beta-enolase deficiency|glycogenosis due to muscle beta-enolase deficiency|muscular enolase deficiency|GSDXIII|glycogen storage disease type 13|GSD13|glycogen storage disease due to muscle beta-enolase deficiency OMIM:612932|Orphanet:99849|MESH:C567861|UMLS:C2752027|ICD10:E74.0|GARD:0002125 owl:Class MONDO:0006155 biolink:NamedThing colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl colon neuroendocrine tumor G1|colon NET G1|colon carcinoid tumor|grade 1 neuroendocrine neoplasm of colon|carcinoid tumor of the colon|carcinoid tumor of colon|colon neuroendocrine neoplasm G1|colon neuroendocrine tumor, well differentiated, low grade|colonic carcinoid tumor|colon carcinoid tumor (disease) EFO:1000188|NCIT:C5497 owl:Class MONDO:0011068 biolink:NamedThing type 1 diabetes mellitus 12 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. tmpak2llvmy_mondo_relaxed.owl CTLA4 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CTLA4|IDDM12|diabetes mellitus, insulin-dependent, 12|diabetes mellitus, insulin-dependent, type 12|insulin-dependent diabetes mellitus 12 OMIM:601388|MESH:C563326|DOID:0110751|UMLS:C1832392|ICD10:E10 owl:Class MONDO:0016241 biolink:NamedThing alternating hemiplegia of childhood A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. tmpak2llvmy_mondo_relaxed.owl AHC|pediatric alternating hemiplegia|alternating hemiplegia of childhood|adrenal hypoplasia congenita|alternating hemiplegia syndrome|congenital adrenal Hypoplasia|congenital adrenal gland hypoplasia|alternating hemiplegia|childhood alternating hemiplegia Orphanet:2131|SCTID:230466004|NCIT:C35261|OMIMPS:104290|DOID:0050635|GARD:0000011|MESH:C536589|ICD10:G98|UMLS:C0338488 owl:Class MONDO:0001170 biolink:NamedThing hemiplegia Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. tmpak2llvmy_mondo_relaxed.owl infantile hemiplegia|postnatal infantile hemiplegia MESH:D006429|GARD:0006583|SCTID:1593000|DOID:10969|ICD9:343.4 https://rarediseases.info.nih.gov/diseases/6583/hemiplegia owl:Class MONDO:0007697 biolink:NamedThing hand clasping pattern tmpak2llvmy_mondo_relaxed.owl hand clasping pattern OMIM:139800 owl:Class MONDO:0037256 biolink:NamedThing serous neoplasm tmpak2llvmy_mondo_relaxed.owl serous neoplasm NCIT:C7074|UMLS:C1335951 owl:Class MONDO:0008872 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.' tmpak2llvmy_mondo_relaxed.owl microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|osteodysplastic primordial dwarfism type II|microcephalic osteodysplastic primordial dwarfism, type 2|MOPD2|osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism type 2|MOPD II|Majewski osteodysplastic primordial dwarfism type II|Mopd 2|microcephalic osteodysplastic primordial dwarfism, type II|osteodysplastic primordial dwarfism type 2|MOPD type II OMIM:210720|ICD10:Q87.1|SCTID:254103003|Orphanet:2637|GARD:0009844|MESH:C565898|DOID:0060609 https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 owl:Class UBERON:0005904 biolink:NamedThing duct of male reproductive system Any of the ducts that are part of a male reproductive system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002790 biolink:NamedThing seminal vesicle tumor A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl seminal vesicle neoplasm|seminal vesicle neoplasm (disease)|tumor of seminal vesicle|neoplasm of seminal vesicle|seminal vesicle tumor UMLS:C0341767|DOID:3855|ICD9:239.5|SCTID:236740006|NCIT:C39908 owl:Class UBERON:0034997 biolink:NamedThing renal medulla loop of Henle tmpak2llvmy_mondo_relaxed.owl loop of Henle of renal medulla|loop of Henle, medullary portion owl:Class HGNC:19237 biolink:NamedThing NANS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003492 biolink:NamedThing lacrimal gland squamous cell carcinoma A squamous cell carcinoma that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl lacrimal gland epidermoid carcinoma|squamous cell carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland|lacrimal gland squamous cell carcinoma|epidermoid carcinoma of the lacrimal gland|squamous cell carcinoma of lacrimal gland DOID:5529|NCIT:C6092|UMLS:C1334360 owl:Class MONDO:0012907 biolink:NamedThing blindness - scoliosis - arachnodactyly syndrome This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. tmpak2llvmy_mondo_relaxed.owl scoliosis, arachnodactyly, and blindness UMLS:C2676234|OMIM:612445|SCTID:717920004|MESH:C567309|Orphanet:171844 owl:Class MONDO:0014411 biolink:NamedThing myopia 24, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP24|myopia 24, autosomal dominant UMLS:C4014762|OMIM:615946 owl:Class MONDO:0012121 biolink:NamedThing otosclerosis 5 tmpak2llvmy_mondo_relaxed.owl OTSC5|otosclerosis 5 OMIM:608787|UMLS:C1837422|MESH:C563858 owl:Class UBERON:0003613 biolink:NamedThing cardiovascular system elastic tissue An elastic tissue that is part of a circulatory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl circulatory system elastic tissue|cardiovascular system elastic connective tissue|elastic tissue of cardiovascular system|textus connectivus elasticus of cardiovascular system|elastic connective tissue of circulatory system|circulatory system elastic connective tissue|elastic tissue of circulatory system|circulatory system textus connectivus elasticus|elastic connective tissue of cardiovascular system|textus connectivus elasticus of circulatory system|cardiovascular system textus connectivus elasticus owl:Class MONDO:0001033 biolink:NamedThing mycotic corneal ulcer tmpak2llvmy_mondo_relaxed.owl ICD10:H16.06|UMLS:C0155071|DOID:10440|SCTID:397977001|ICD9:370.05 owl:Class NCBITaxon:9605 biolink:NamedThing Homo tmpak2llvmy_mondo_relaxed.owl humans GC_ID:1 ncbi_taxonomy owl:Class ENVO:01000687 biolink:NamedThing coast A coast is the area where land meets the sea, ocean, or lake. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15766 biolink:NamedThing ADNP tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000586 biolink:NamedThing increased size A size quality which is relatively high. tmpak2llvmy_mondo_relaxed.owl big|large|expanded|great|enlarged owl:Class MONDO:0003937 biolink:NamedThing spondylitis The inflammation of a vertebra. tmpak2llvmy_mondo_relaxed.owl inflammation of vertebra|vertebra inflammation ICD9:720.89|ICD10:M46|MESH:D013166|NCIT:C116779|DOID:6590|ICD9:720.8|SCTID:84172003 owl:Class UBERON:0016542 biolink:NamedThing limbic cortex tmpak2llvmy_mondo_relaxed.owl cortex of limbic lobe|limbic lobe cortex|gray matter of limbic lobe owl:Class UBERON:0016529 biolink:NamedThing cortex of cerebral lobe Grey matter neocortex region of a lobe of the cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl cortex of lobe of cerebral hemisphere|cortex of cerebral hemisphere lobe|gray matter of lobe of cerebral hemisphere|neocortical part of cerebral hemisphere owl:Class UBERON:0002223 biolink:NamedThing endolymphatic sac From the posterior wall of the saccule a canal, the ductus endolymphaticus, is given off; this duct is joined by the ductus utriculosaccularis, and then passes along the aquaeductus vestibuli and ends in a blind pouch, the endolymphatic sac, on the posterior surface of the petrous portion of the temporal bone, where it is in contact with the dura mater. Studies suggest that the endolymphatic duct and endolymphatic sac perform both absorptive and secretory, as well as phagocytic and immunodefensive,functions . [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl saccus endolymphaticus owl:Class MONDO:0001868 biolink:NamedThing primary angle-closure glaucoma An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. tmpak2llvmy_mondo_relaxed.owl primary angle closure glaucoma NCIT:C34640|EFO:1001506|DOID:1405|ICD9:365.20|ICD10:H40.2|ICD9:365.2|ICD10:H40.20|UMLS:C0017606|SCTID:392288006 owl:Class MONDO:0001744 biolink:NamedThing angle-closure glaucoma The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. tmpak2llvmy_mondo_relaxed.owl angle closure glaucoma|Narrow cleft glaucoma|primary open-angle glaucoma with narrow angles|ACG - angle-closure glaucoma SCTID:392291006|UMLS:C0017605|MESH:D015812|DOID:13550 owl:Class MONDO:0015500 biolink:NamedThing facial arteriovenous malformation Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. tmpak2llvmy_mondo_relaxed.owl ICD10:Q27.3|GARD:0012663|Orphanet:156230 https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation owl:Class MONDO:0060641 biolink:NamedThing neurodevelopmental disorder with or without seizures and gait abnormalities tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with or without seizures and gait abnormalities|NEDSGA OMIM:617864|UMLS:CN800195 owl:Class MONDO:0012236 biolink:NamedThing keratoconus 4 tmpak2llvmy_mondo_relaxed.owl KTCN4|keratoconus 4 UMLS:C1836473|OMIM:609271|MESH:C563752 owl:Class HP:0012828 biolink:NamedThing Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. tmpak2llvmy_mondo_relaxed.owl Severe SNOMEDCT_US:24484000|UMLS:C0205082 PATO:0000396, severe. peter 2014-06-06T07:03:17Z human_phenotype owl:Class HP:0002198 biolink:NamedThing Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. tmpak2llvmy_mondo_relaxed.owl Enlarged fourth ventricle UMLS:C1847117 HP:0007223 human_phenotype owl:Class HP:0002119 biolink:NamedThing Ventriculomegaly An increase in size of the ventricular system of the brain. tmpak2llvmy_mondo_relaxed.owl Enlarged cerebral ventricles|Enlarged ventricular system|Large cerebral ventricles and cisternae|Enlarged ventricles|Cerebral ventricular dilatation|Ventricular dilatation|Dilated cerebral ventricle|Dilated ventricles|Dilated cerebral ventricles UMLS:C3278923 HP:0007071|HP:0005691|HP:0002447 human_phenotype owl:Class MONDO:0009845 biolink:NamedThing pelviscapular dysplasia Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|COUSIN syndrome|pelviscapular dysplasia|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|Cousin syndrome UMLS:C1850040|Orphanet:93333|SCTID:719299009|OMIM:260660|MESH:C535550|GARD:0001555|ICD10:Q87.5 owl:Class GO:1900116 biolink:NamedThing extracellular negative regulation of signal transduction Any negative regulation of signal transduction that takes place in extracellular region. tmpak2llvmy_mondo_relaxed.owl down regulation of signal transduction in extracellular region|negative regulation of signaling pathway in extracellular region|negative regulation of signalling pathway in extracellular region|downregulation of signal transduction in extracellular region|down-regulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|inhibition of signal transduction in extracellular region owl:Class HGNC:3013 biolink:NamedThing DPYS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010220 biolink:NamedThing Young syndrome Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. tmpak2llvmy_mondo_relaxed.owl azoospermia, obstructive, and chronic sinopulmonary infections|sinusitis-infertility syndrome|Barry Perkins Young syndrome|young syndrome|azoospermia-sinopulmonary infections syndrome|azoospermia obstructive and chronic sinopulmonary infections|Barry-Perkins-Young syndrome Orphanet:3471|MESH:C536718|SCTID:233666007|OMIM:279000|ICD10:N46|UMLS:C0340037|ICD9:759.89|GARD:0000341|MedDRA:10063689 https://rarediseases.info.nih.gov/diseases/341/young-syndrome owl:Class MONDO:0018407 biolink:NamedThing male infertility due to obstructive azoospermia of genetic origin tmpak2llvmy_mondo_relaxed.owl Male infertility due to impaired sperm transport of genetic origin 2022-03-01 ICD10:N46|Orphanet:399998 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0008473 biolink:NamedThing spondyloepimetaphyseal dysplasia, Maroteaux type A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome type 2|brachyolmia Maroteaux type|spondyloepimetaphyseal dysplasia, Maroteaux type|spondyloepiphyseal dysplasia Maroteaux type|SED, Maroteaux type|pseudo-Morquio syndrome, type 2 GARD:0000994|Orphanet:263482|UMLS:CN202294|OMIM:184095|SCTID:719204007|ICD10:Q77.7|DOID:0111553 https://github.com/monarch-initiative/mondo/issues/2706 owl:Class MONDO:0002993 biolink:NamedThing pancreatic somatostatinoma A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. tmpak2llvmy_mondo_relaxed.owl pancreatic delta cell somatostatin producing neoplasm|pancreatic somatostatin cell tumor DOID:4432|EFO:1001964|NCIT:C95595|UMLS:C1368041 owl:Class UBERON:0005025 biolink:NamedThing mucosa of uvula A mucosa that is part of a uvula [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl uvula mucosa owl:Class CHEBI:176894 biolink:NamedThing vitamin B6 phosphate anion tmpak2llvmy_mondo_relaxed.owl vitamin B6 phosphate anions|vitamin B-6 phosphate anion|vitamin B-6 phosphate anions owl:Class MONDO:0011805 biolink:NamedThing asthma-related traits, susceptibility to, 1 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. tmpak2llvmy_mondo_relaxed.owl asthma-related traits, susceptibility to, type 1|asthma-related traits, susceptibility to, 1|ASRT1|PTGDR inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in PTGDR|AS1 UMLS:C1846534|OMIM:607277 owl:Class CL:0000958 biolink:NamedThing T1 B cell A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative. tmpak2llvmy_mondo_relaxed.owl transitional stage 1 B cell|T1 B lymphocyte|T1 B-lymphocyte|T1 B-cell T1 B cells are also reportedly CD10-negative/positive??, CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class MONDO:0100090 biolink:NamedThing congenital alveolar dysplasia due to FGF10 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpak2llvmy_mondo_relaxed.owl CAD due to FGF10 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class GO:0045600 biolink:NamedThing positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. tmpak2llvmy_mondo_relaxed.owl positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation|positive regulation of adipocyte differentiation|up regulation of fat cell differentiation|activation of fat cell differentiation|stimulation of fat cell differentiation|upregulation of fat cell differentiation owl:Class MONDO:0000236 biolink:NamedThing oropharyngeal anthrax A anthrax infection that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharynx anthrax infection DOID:0050059 owl:Class MONDO:0001701 biolink:NamedThing gastrointestinal anthrax An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. tmpak2llvmy_mondo_relaxed.owl MESH:C571911|DOID:13386|SCTID:111798006|UMLS:C0152945|ICD9:022.2|ICD10:A22.2 owl:Class MONDO:0014769 biolink:NamedThing inherited oocyte maturation defect tmpak2llvmy_mondo_relaxed.owl OOMD|oocyte maturation defect UMLS:CN238505|OMIMPS:615774 owl:Class MONDO:0016070 biolink:NamedThing hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. tmpak2llvmy_mondo_relaxed.owl autosomal dominant gingival hyperplasia|autosomal dominant gingival fibromatosis|hereditary gingival fibromatosis|hereditary gingival hyperplasia Orphanet:2024|ICD10:K06.1|DOID:0060466|SCTID:109620006|OMIMPS:135300|UMLS:C0399440 owl:Class MONDO:0003502 biolink:NamedThing ureter squamous cell carcinoma A rare squamous cell carcinoma that arises from the ureter. tmpak2llvmy_mondo_relaxed.owl ureter epidermoid carcinoma|ureteral squamous cell carcinoma|ureter squamous cell carcinoma|epidermoid carcinoma of ureter|squamous cell carcinoma of the ureter|squamous cell carcinoma of ureter|ureteral epidermoid carcinoma|epidermoid carcinoma of the ureter NCIT:C6154|DOID:5539|UMLS:C1336879 owl:Class MONDO:0012514 biolink:NamedThing hypomyelinating leukodystrophy 5 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. tmpak2llvmy_mondo_relaxed.owl hypomyelination and congenital cataract|hypomyelination - congenital cataract|hypomyelination and congenital cataract: HCC|leukodystrophy, hypomyelinating, 5|hypomyelinating leukodystrophy type 5|FAM126A leukodystrophy|leukodystrophy, hypomyelinating, type 5|hypomyelination-congenital cataract syndrome|HLD5|leukodystrophy caused by mutation in FAM126A ICD9:341.8|MESH:C567166|GARD:0011980|UMLS:C1864663|DOID:0060793|Orphanet:85163|SCTID:702379005|ICD10:G37.8|OMIM:610532 owl:Class MONDO:0001379 biolink:NamedThing ureteric orifice cancer A malignant neoplasm involving the ureteral orifice. tmpak2llvmy_mondo_relaxed.owl ureteral orifice cancer|orifice of the ureter|cancer of ureteral orifice|malignant tumor of ureteric orifice|malignant neoplasm of ureteric orifice of urinary bladder|malignant ureteral orifice neoplasm|malignant neoplasm of ureteral orifice ICD10:C67.6|DOID:11818|ICD9:188.6|SCTID:188245008|UMLS:C0153614 owl:Class MONDO:0008627 biolink:NamedThing ureter cancer A malignant neoplasm involving the ureter tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of ureter|cancer of ureter|malignant tumour of ureter|malignant tumor of ureter|ureter cancer|ureter, cancer OF|malignant ureteral tumor|malignant neoplasm of the ureter|malignant ureter tumor|malignant tumor of the ureter|malignant ureter neoplasm|malignant ureteral neoplasm DOID:11819|SCTID:363458004|ICD10:C66|OMIM:191600|UMLS:C0153619|ICD9:189.2|MESH:D014516|NCIT:C7543 owl:Class MONDO:0008793 biolink:NamedThing angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert tmpak2llvmy_mondo_relaxed.owl Divry-Van Bogaert syndrome|angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin MESH:C536367|UMLS:C1859783|OMIM:206570|GARD:0008587 https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert owl:Class MONDO:0015771 biolink:NamedThing mosaic trisomy 7 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 7|Mosaic trisomy type 7|trisomy 7 mosaicism SCTID:764630003|GARD:0005354|MESH:C537822|Orphanet:1747|UMLS:CN036006|ICD10:Q92.1 https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 owl:Class MONDO:0022607 biolink:NamedThing extraovarian Brenner tumor of the vagina A Brenner tumor that involves the vagina. tmpak2llvmy_mondo_relaxed.owl extraovarian Brenner tumor of the vagina|vagina Brenner tumor|Brenner tumor of the vagina GARD:0010006 https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina owl:Class MONDO:0021050 biolink:NamedThing vaginal neoplasm A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. tmpak2llvmy_mondo_relaxed.owl vagina neoplasm (disease)|tumor of vagina|tumor of the vagina|neoplasm of the vagina|vagina tumor|vagina neoplasm|neoplasm of vagina|vaginal neoplasm|vaginal tumor ONCOTREE:VULVA|EFO:1001447|ICD9:239.5|NCIT:C3437|SCTID:126921000 Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva owl:Class GO:1903960 biolink:NamedThing negative regulation of anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl inhibition of anion transmembrane transport|down-regulation of anion transmembrane transport|downregulation of anion transmembrane transport|down regulation of anion transmembrane transport owl:Class MONDO:0003708 biolink:NamedThing extrahepatic bile duct small cell adenocarcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl small cell adenocarcinoma of extrahepatic bile duct|Oat cell extrahepatic bile duct carcinoma|Oat cell carcinoma of extrahepatic bile duct|extrahepatic bile duct small cell NEC|small cell extrahepatic bile duct neuroendocrine carcinoma|extrahepatic bile duct small cell neuroendocrine carcinoma|small cell adenocarcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct carcinoma|Oat cell carcinoma of the extrahepatic bile duct NCIT:C5845|UMLS:C1335979|DOID:5926 owl:Class MONDO:0001551 biolink:NamedThing ulceration of vulva tmpak2llvmy_mondo_relaxed.owl vulvar ulceration|ulceration of vulva DOID:12566|SCTID:68640004|ICD10:N77.0|UMLS:C0156339|ICD9:616.51|ICD10:N76.6|ICD9:616.50 owl:Class ENVO:01000743 biolink:NamedThing land consumption process A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015807 biolink:NamedThing ear epithelium A epithelium that is part of a ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024360 biolink:NamedThing central sleep apnea caused by high altitude tmpak2llvmy_mondo_relaxed.owl central sleep apnea due to high altitude|central sleep apnea caused by high altitude UMLS:C4075997|SCTID:91441000119109 owl:Class MONDO:0004731 biolink:NamedThing central sleep apnea syndrome A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. tmpak2llvmy_mondo_relaxed.owl apnea, central|central alveolar hypoventilation|central apnea|alveolar hypoventilation, central|Apneas, central sleep|central alveolar hypoventilation syndrome|central sleep apnea, primary|Apneas, central|sleep-disordered Breathings, central|central Apneas|Breathings, central sleep-disordered|central sleep Apneas|sleep Apneas, central|hypoventilation, central alveolar|ondine syndrome|central sleep disordered breathing|central sleep-disordered Breathings|central sleep apnea, secondary|central sleep apnea|apnea, sleep, central|sleep-disordered breathing, central|apnea, central sleep|sleep apnea, lethal central|breathing, central sleep-disordered|hypoventilations, central alveolar|secondary central sleep apnea|sleep disordered breathing, central|primary central sleep apnea|alveolar hypoventilations, central|central sleep apnea syndrome|central sleep-disordered breathing ICD9:327.21|UMLS:C3887547|ICD10:G47.31|SCTID:27405005|MESH:D020182|DOID:9220|NCIT:C27169 owl:Class MONDO:0012057 biolink:NamedThing legionnaire disease, susceptibility to tmpak2llvmy_mondo_relaxed.owl legionnaire disease, susceptibility to|Legionella infection|susceptibility to legionnaire disease|legionnaire's disease GARD:0006876|OMIM:608556 owl:Class MONDO:0019329 biolink:NamedThing microcystic lymphatic malformation tmpak2llvmy_mondo_relaxed.owl microcystic lymphangioma|capillary lymphangioma|superficial lymphatic malformation|cutaneous lymphangioma circumscriptum|microcystic infiltrating lymphatic malformation|capillary lymphatic malformation|superficial lymphangioma ICD10:D18.1|Orphanet:79490|GARD:0013020 owl:Class MONDO:0018720 biolink:NamedThing common cystic lymphatic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:458833 owl:Class ECTO:4000003 biolink:NamedThing exposure to decreased salt A exposure event involving the interaction of an exposure receptor to decreased amount of salt. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in salt owl:Class MONDO:0001547 biolink:NamedThing atrophic nonflaccid tympanic membrane tmpak2llvmy_mondo_relaxed.owl DOID:12546|SCTID:72052003|ICD9:384.82|UMLS:C0155471|ICD10:H73.82 owl:Class MONDO:0003648 biolink:NamedThing tympanic membrane disease A disease involving the tympanic membrane. tmpak2llvmy_mondo_relaxed.owl disease of tympanic membrane|tympanic membrane disease or disorder|tympanic membrane disease|disorder of tympanic membrane|disease or disorder of tympanic membrane ICD9:384.9|UMLS:C0041825|ICD10:H73.90|DOID:5782|ICD10:H73.9|SCTID:21426000 owl:Class MONDO:0008542 biolink:NamedThing tetralogy of fallot Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. tmpak2llvmy_mondo_relaxed.owl tetralogy of fallot|tetralogy of FALLOT|ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|TOF|Fallot tetralogy OMIM:187500|ICD10:Q21.3|DOID:6419|MedDRA:10016193|GARD:0002245|UMLS:C0039685|ICD9:745.2|SCTID:86299006|Orphanet:3303|NCIT:C84505|MESH:D013771 https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot owl:Class CHEBI:33658 biolink:NamedThing arene Any monocyclic or polycyclic aromatic hydrocarbon. tmpak2llvmy_mondo_relaxed.owl aromatic hydrocarbons|arene|arenes owl:Class MONDO:0012024 biolink:NamedThing retinitis pigmentosa 26 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in CERKL|RP 26|retinitis pigmentosa type 26|CERKL retinitis pigmentosa|RP26|retinitis pigmentosa 26 OMIM:608380|DOID:0110368|ICD10:H35.5|GARD:0010397|MESH:C564249|UMLS:C1842127 https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26 owl:Class MONDO:0011336 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 4 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. tmpak2llvmy_mondo_relaxed.owl familial hemophagocytic lymphohistiocytosis 4|HLH4|Hplh4|familial hemophagocytic lymphohistiocytosis type 4|genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|HPLH4|FHL4|STX11 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, type 4|Hlh4|hemophagocytic lymphohistiocytosis, familial, 4 GARD:0009929|MESH:C537252|DOID:0110924|OMIM:603552 https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 owl:Class MONDO:0001159 biolink:NamedThing multiple personality disorder A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. tmpak2llvmy_mondo_relaxed.owl dissociative identity disorder SCTID:31611000|NCIT:C94330|DOID:10934|ICD9:300.14|ICD10:F44.81|MESH:D009105 owl:Class MONDO:0001160 biolink:NamedThing dissociative disorder A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. tmpak2llvmy_mondo_relaxed.owl dissociative reaction|dissociative disease ICD10:F44.9|DOID:10935|MESH:D004213|ICD10:F48.9|NCIT:C92197|ICD9:300.9|ICD9:300.15 owl:Class MONDO:0001631 biolink:NamedThing vertebral artery insufficiency A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. tmpak2llvmy_mondo_relaxed.owl vertebral artery syndrome NCIT:C35123|ICD9:435.1|UMLS:C0042560|SCTID:34781003|DOID:13095 owl:Class MONDO:0019993 biolink:NamedThing congenital renal artery stenosis A narrowing of renal arteries that is present since birth. tmpak2llvmy_mondo_relaxed.owl congenital RAS|congenital renovascular hypoplasia SCTID:271432005|Orphanet:97598|ICD10:Q27.1 https://github.com/monarch-initiative/mondo/issues/1741 owl:Class MONDO:0014775 biolink:NamedThing combined oxidative phosphorylation deficiency 28 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in SLC25A26|COXPD28|neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|combined oxidative phosphorylation deficiency 28|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 28|combined oxidative phosphorylation defect type 28 UMLS:C4225206|DOID:0111470|Orphanet:466784|OMIM:616794 owl:Class CL:2000007 biolink:NamedThing articular chondrocyte of knee joint Chondrocyte forming the hyaline cartilage found in the knee joint. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T14:40:11Z cell owl:Class CL:1001607 biolink:NamedThing articular chondrocyte Chondrocyte forming the hyaline cartilage found in joints. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0056 owl:Class PATO:0015023 biolink:NamedThing decreased combustibility An decrease in combustibility. tmpak2llvmy_mondo_relaxed.owl noncombustible owl:Class MONDO:0010790 biolink:NamedThing MERRF syndrome A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy associated with ragged red fibers|Fukuhara syndrome|myoclonus with epilepsy and with ragged Red fibers|myoencephalopathy ragged-red fiber disease|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy - ragged red fibers|myoclonic epilepsy with ragged red fibers|MERRF syndrome|MERRF|myoclonus epilepsy associated with ragged-red fibres|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus epilepsy and ragged red fibers ICD9:277.87|MedDRA:10069825|MESH:D017243|DOID:310|Orphanet:551|UMLS:C0162672|ICD10:E88.42|SCTID:68448003|ICD10:G71.3|GARD:0007144|NCIT:C84889|OMIM:545000 owl:Class MONDO:0004675 biolink:NamedThing mitochondrial encephalomyopathy A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) tmpak2llvmy_mondo_relaxed.owl MESH:D017237|DOID:890|SCTID:447292006|UMLS:C0162666|ICD9:277.87 owl:Class GO:0055086 biolink:NamedThing nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpak2llvmy_mondo_relaxed.owl nucleobase, nucleoside and nucleotide metabolism|nucleobase, nucleoside and nucleotide metabolic process owl:Class GO:0007140 biolink:NamedThing male meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. tmpak2llvmy_mondo_relaxed.owl male nuclear division|male meiosis owl:Class MONDO:0001349 biolink:NamedThing odontoclasia tmpak2llvmy_mondo_relaxed.owl ICD10:K02.4|UMLS:C0341004|ICD9:521.05|SCTID:196305005|DOID:11736 owl:Class MONDO:0005276 biolink:NamedThing dental caries The decay of a tooth, in which it becomes softened, discolored, and/or porous. tmpak2llvmy_mondo_relaxed.owl dental caries extending into pulp|dental caries pit and fissure|dental caries of smooth surface ICD9:521.00|EFO:0003819|ICD10:K02.6|MESH:D003731|ICD9:521.07|ICD10:K02.9|DOID:216|ICD9:521.0|ICD10:K02|SCTID:80967001|ICD9:521.06|UMLS:C0011334 owl:Class MONDO:0003516 biolink:NamedThing adult teratoma A teratoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult teratoma|teratoma|teratoma of adults DOID:5565|UMLS:C1368898|NCIT:C9013 owl:Class MONDO:0005803 biolink:NamedThing hyperinsulinemic hypoglycemia An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. tmpak2llvmy_mondo_relaxed.owl nesidioblastosis|islet cell hyperplasia|hyperinsulinemic hypoglycemia|persistent hyperinsulinemia hypoglycemia of infancy|hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) SCTID:42681006|DOID:13317|EFO:0007318|HP:0000825|ICD10:E16.9 owl:Class MONDO:0001969 biolink:NamedThing mixed gonadal dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis mixed MESH:D006060|UMLS:C0018055|DOID:14449|GARD:0002539|SCTID:83579008 https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed owl:Class UBERON:0001267 biolink:NamedThing femoral nerve The femoral nerve, the largest branch of the lumbar plexus, arises from the ventral divisions of the second, third, and fourth lumbar nerves. It descends through the fibers of the Psoas major, emerging from the muscle at the lower part of its lateral border, and passes down between it and the Iliacus, behind the iliac fascia; it then runs beneath the inguinal ligament, into the thigh, and splits into an anterior and a posterior division. Under the inguinal ligament, it is separated from the femoral artery by a portion of the Psoas major. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl nervus femoralis|anterior crural nerve owl:Class MONDO:0006585 biolink:NamedThing neurodermatitis Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. tmpak2llvmy_mondo_relaxed.owl lichen simplex Chronicus MESH:D009450|UMLS:C0027822|UMLS:C0149922|SCTID:267854005|DOID:3309|NCIT:C111963|EFO:1000740 owl:Class GO:1904226 biolink:NamedThing regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018163 biolink:NamedThing autosomal recessive cutis laxa type 2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. tmpak2llvmy_mondo_relaxed.owl cutis laxa, autosomal recessive, type 2A|ARCL2A|cutis laxa, autosomal recessive, type IIA|cutis laxa with Joint laxity and retarded development|cutis laxa, debre type|cutis laxa, autosomal recessive type 2A|cutis laxa with growth and developmental delay|autosomal recessive cutis laxa type IIA|autosomal recessive cutis laxa type 2A|cutis laxa with bone dystrophy|cutis laxa with congenital disorder of glycosylation ICD10:Q82.8|DOID:0070134|Orphanet:357058|OMIM:219200|GARD:0001638 owl:Class MONDO:0017752 biolink:NamedThing defect in V-ATPase tmpak2llvmy_mondo_relaxed.owl ICD10:E77.8|Orphanet:309778 owl:Class MONDO:0100283 biolink:NamedThing overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism. tmpak2llvmy_mondo_relaxed.owl overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0019319 biolink:NamedThing exocrine gland of integumental system An exocrine gland that is part of a integumental system. tmpak2llvmy_mondo_relaxed.owl integumental exocrine gland|integumental system exocrine gland owl:Class HGNC:93 biolink:NamedThing ACAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:31928 biolink:NamedThing NBEAL2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25442 biolink:NamedThing mycotoxin Poisonous substance produced by fungi. tmpak2llvmy_mondo_relaxed.owl fungal toxins|mycotoxins owl:Class CHEBI:76946 biolink:NamedThing fungal metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. tmpak2llvmy_mondo_relaxed.owl fungal metabolites owl:Class MONDO:0013987 biolink:NamedThing combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 15|combined oxidative phosphorylation defect type 15|combined oxidative phosphorylation deficiency caused by mutation in MTFMT|COXPD15|combined oxidative phosphorylation deficiency 15|MTFMT combined oxidative phosphorylation deficiency DOID:0111491|Orphanet:319524|UMLS:C3554182|ICD10:G31.8|OMIM:614947|SCTID:763203009 owl:Class MONDO:0003563 biolink:NamedThing diffuse pulmonary fibrosis Diffuse replacement of the lung tissue by connective tissue. tmpak2llvmy_mondo_relaxed.owl UMLS:C0865849|NCIT:C27216|DOID:5641 owl:Class MONDO:0009295 biolink:NamedThing glycogen storage disease VII Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. tmpak2llvmy_mondo_relaxed.owl phosphofructokinase deficiency|glycogen storage disease type 7|glycogenosis type 7|GSD type VII|GSD 7|phosphofructokinase myopathy|glycogenosis due to muscle phosphofructokinase deficiency|GSD type 7|GSD7|GSD due to muscle phosphofructokinase deficiency|glycogen storage disease, type VII|glycogen storage disease 7|glycogen storage disease due to muscle phosphofructokinase deficiency|Pfkm deficiency|glycogenosis type VII|glycogen storage disease type VII|muscle phosphofructokinase deficiency|glycogen storage disease VII|PFKM glycogen storage disease|GSDVII|Tarui disease|glycogen storage disease caused by mutation in PFKM MESH:D006014|Orphanet:371|ICD10:E74.09|NCIT:C118437|DOID:11721|SCTID:89597008|UMLS:C0017926|GARD:0005686|ICD10:E74.0|OMIM:232800|MedDRA:10053241 owl:Class MONDO:0024315 biolink:NamedThing parasitic endophthalmitis Infection of the epicondyles by a parasite. tmpak2llvmy_mondo_relaxed.owl parasitic endophthalmitis NCIT:C34587|SCTID:57100005|UMLS:C0014238|ICD9:360.13 owl:Class HP:0001942 biolink:NamedThing Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. tmpak2llvmy_mondo_relaxed.owl UMLS:C0220981|MSH:D000138|SNOMEDCT_US:59455009 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. HP:0004907|HP:0004895 human_phenotype owl:Class UBERON:0006658 biolink:NamedThing interphalangeal joint A joint that connects one phalanx to another along a proximodistal axis. tmpak2llvmy_mondo_relaxed.owl inter-phalanx joint|inter-phalangeal joint owl:Class MONDO:0018466 biolink:NamedThing hereditary late onset Parkinson disease A form of Parkinson disease (PD) characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). tmpak2llvmy_mondo_relaxed.owl late onset Parkinson disease|late-onset Parkinson disease|LOPD|autosomal dominant late-onset Parkinson disease|hereditary late onset Parkinson disease|late onset Parkinson's disease|hereditary late-onset Parkinson disease 2021-01-01 Orphanet:411602|DOID:0060892|SCTID:716662004|ICD10:G20 Reason: duplicate. This will be merged with MONDO:0008199 late-onset Parkinson disease owl:Class MONDO:0008199 biolink:NamedThing late-onset Parkinson disease A Parkinson disease that begins after around the age of 50. tmpak2llvmy_mondo_relaxed.owl PD|park|Parkinson disease, late-onset|late-onset Parkinson disease UMLS:C3160718|OMIM:168600 owl:Class MONDO:0002814 biolink:NamedThing adrenal carcinoma A carcinoma involving a adrenal gland. tmpak2llvmy_mondo_relaxed.owl adrenal gland carcinoma|carcinoma of adrenal gland|carcinoma of the adrenal gland DOID:3950 owl:Class MONDO:0018128 biolink:NamedThing phalangeal microgeodic syndrome Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. tmpak2llvmy_mondo_relaxed.owl phalangeal osteolysis Orphanet:352636|UMLS:CN204506|ICD10:M89.5 owl:Class MONDO:0044816 biolink:NamedThing familial idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary idiopathic torsion dystonia|idiopathic familial dystonia|familial Idiopathic dystonia|genetic torsion dystonia NCIT:C35437|SCTID:230318005 owl:Class MONDO:0044811 biolink:NamedThing idiopathic torsion dystonia Torsion dystonia for which no underlying cause has been identified. tmpak2llvmy_mondo_relaxed.owl dystonia musculorum deformans|Ziehen-oppenheim disease|dystonia deformans progressiva|Schwalbe disease|Idiopathic torsion dystonia|primary torsion dystonia|idiopathic torsion dystonia NCIT:C34564|SCTID:22451001|ICD9:333.6 owl:Class MONDO:0003579 biolink:NamedThing retinal nerve fibre layer disorder A disease that involves the nerve fiber layer of retina. tmpak2llvmy_mondo_relaxed.owl nerve fibre bundle defect|retinal nerve fiber bundle deficiency|disorder of nerve fiber layer of retina|disease or disorder of nerve fiber layer of retina|retinal nerve fiber bundle defects|nerve fiber layer of retina disease or disorder|disease of nerve fiber layer of retina|nerve fiber layer of retina disease UMLS:C3665426|SCTID:193428001|ICD9:362.85|DOID:5678 owl:Class GO:0000224 biolink:NamedThing peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue. tmpak2llvmy_mondo_relaxed.owl N-oligosaccharide glycopeptidase activity|glycopeptidase activity|N-glycanase activity|PNGase F|PNGase|jack-bean glycopeptidase|N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity|glycopeptide N-glycosidase activity|peptide:N-glycanase|PNGase A owl:Class GO:0016811 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:123368 biolink:NamedThing Acanthomorphata tmpak2llvmy_mondo_relaxed.owl Acanthomorpha GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032802 biolink:NamedThing deafness, autosomal dominant 37 tmpak2llvmy_mondo_relaxed.owl DFNA37|DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM:618533 owl:Class MONDO:0003235 biolink:NamedThing optic nerve glioma A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpak2llvmy_mondo_relaxed.owl cranial nerve II glioma|optic nerve glioma|glioma of cranial nerve II|glioma of the optic nerve|glioma of optic nerve NCIT:C4537|UMLS:C0346326|SCTID:254976006|MESH:D020339|ICD9:237.9|DOID:4992 owl:Class UBERON:0012248 biolink:NamedThing cervical mucosa Lining of the head of the uterus (cervix); contains large branched glands; does not undergo sloughing. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011918 biolink:NamedThing anxiety tmpak2llvmy_mondo_relaxed.owl anxiety|harm avoidance OMIM:607834 owl:Class MONDO:0022832 biolink:NamedThing congenital heart disease radio ulnar synostosis intellectual disability tmpak2llvmy_mondo_relaxed.owl GARD:0001484 https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation owl:Class MONDO:0008548 biolink:NamedThing theophylline Biotransformation tmpak2llvmy_mondo_relaxed.owl theophylline Biotransformation OMIM:187650|UMLS:C1861211 owl:Class MONDO:0004898 biolink:NamedThing total circumpapillary dystrophy of choroid tmpak2llvmy_mondo_relaxed.owl circumpapillary dystrophy of choroid, total UMLS:C0154896|DOID:9842|ICD9:363.52|SCTID:59753003 owl:Class MONDO:0004883 biolink:NamedThing hereditary choroidal atrophy tmpak2llvmy_mondo_relaxed.owl ICD10:H31.20|ICD10:H31.2|SCTID:74469006|DOID:9794|ICD9:363.5|UMLS:C0154893|ICD9:363.50 owl:Class UBERON:0009758 biolink:NamedThing abdominal ganglion A ganglion that is part of a abdominal segment of trunk. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012556 biolink:NamedThing DK1-CDG DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. tmpak2llvmy_mondo_relaxed.owl CDG1M|hypotonia and ichthyosis due to dolichol phosphate deficiency|congenital disorder of glycosylation, type Im|CDG Im|CDGIm|congenital disorder of glycosylation type 1m|DOLK-CDG (CDG-Im)|CDG syndrome type Im|dolichol kinase deficiency|CDG-Im|carbohydrate deficient glycoprotein syndrome type Im|congenital disorder of glycosylation type Im|Dk1 deficiency Orphanet:91131|ICD10:E77.8|DOID:0080565|GARD:0012393|SCTID:718712005|OMIM:610768|MESH:C563666 owl:Class MONDO:0100033 biolink:NamedThing metabolic epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 18:55:00+00:00 owl:Class MONDO:0009820 biolink:NamedThing osteoporosis-pseudoglioma syndrome Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta ocular form|ocular form of osteogenesis imperfecta|osteoporosis pseudoglioma syndrome|osteoporosis-pseudoglioma syndrome|Ops|OPPG|osteogenesis imperfecta, ocular form|pseudoglioma with bone fragility OMIM:259770|UMLS:C0432252|MESH:C536063|NCIT:C130998|Orphanet:2788|DOID:0060849|GARD:0004160|MedDRA:10052452|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome owl:Class MONDO:0020247 biolink:NamedThing congenital vitreoretinal dysplasia tmpak2llvmy_mondo_relaxed.owl vitreoretinal dysplasia SCTID:449866003|Orphanet:98669|ICD9:743.56|ICD10:Q14.1 owl:Class MONDO:0013351 biolink:NamedThing infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. tmpak2llvmy_mondo_relaxed.owl postnatal progressive microcephaly, seizures, and brain atrophy|microcephaly, postnatal progressive, with seizures and brain atrophy GARD:0010995|UMLS:C3150921|ICD10:Q04.3|DOID:0111262|OMIM:613668|Orphanet:402364 owl:Class MONDO:0016162 biolink:NamedThing bilateral frontal polymicrogyria Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|GARD:0010783|Orphanet:208444 https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria owl:Class UBERON:0007529 biolink:NamedThing loose mesenchyme tissue Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011305 biolink:NamedThing cerebral cavernous malformation 3 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. tmpak2llvmy_mondo_relaxed.owl familial cerebral cavernous malformation caused by mutation in PDCD10|cerebral cavernous malformation type 3|PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformations 3|CCM3|cerebral cavernous malformation 3|cerebral cavernous malformations type 3 DOID:0060671|MESH:C566393|OMIM:603285|ICD10:Q28.3|UMLS:C1864040 MONDO:0000821 owl:Class MONDO:0003005 biolink:NamedThing macular retinal edema Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. tmpak2llvmy_mondo_relaxed.owl edema, macular|macula lutea retinal edema|macular edema|retinal edema of macula lutea UMLS:C0271051|SCTID:37231002|DOID:4449|NCIT:C35468 owl:Class MONDO:0004037 biolink:NamedThing retinal edema tmpak2llvmy_mondo_relaxed.owl DOID:6929|ICD9:362.83|SCTID:6141006|ICD10:H35.81 owl:Class MONDO:0018437 biolink:NamedThing acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. tmpak2llvmy_mondo_relaxed.owl AML with NPM1 somatic mutations SCTID:763309005|ICD10:C92.0|Orphanet:402026 owl:Class MONDO:0008599 biolink:NamedThing trigeminal neuralgia Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. tmpak2llvmy_mondo_relaxed.owl trifocal neuralgia|Tic douloureux|trigeminal neuralgia|neuralgia of trigeminal nerve|trifacial neuralgia|trigeminal nerve neuralgia GARD:0007805|DOID:12098|ICD9:350.1|OMIM:190400|EFO:1001219|MESH:D014277|Orphanet:221091|SCTID:31681005|MedDRA:10044652|ICD10:G50.0|UMLS:C0040997 https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia owl:Class HGNC:1069 biolink:NamedThing BMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004255 biolink:NamedThing forelimb stylopod muscle Any muscle organ that is part of a forelimb stylopod (upper arm)[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle of arm|upper arm muscle|muscle of upper arm|wing stylopod muscle|skeletal muscle of upper arm owl:Class MONDO:0015170 biolink:NamedThing congenital sodium diarrhea Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. tmpak2llvmy_mondo_relaxed.owl Na-H exchange deficiency ICD10:P78.3|Orphanet:103908|SCTID:18805001 owl:Class GO:0008373 biolink:NamedThing sialyltransferase activity Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016757 biolink:NamedThing glycosyltransferase activity Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl transferase activity, transferring glycosyl groups|transglycosidase activity|transferase activity, transferring other glycosyl groups|transglycosylase activity owl:Class NCBITaxon:30727 biolink:NamedThing Cyprinoidei tmpak2llvmy_mondo_relaxed.owl Cyprinoidea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7952 biolink:NamedThing Cypriniformes tmpak2llvmy_mondo_relaxed.owl carps and others GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007647 biolink:NamedThing gastric volvulus, intrathoracic tmpak2llvmy_mondo_relaxed.owl gastric volvulus, intrathoracic OMIM:137210|UMLS:C1850902|MESH:C564989 owl:Class GO:1903650 biolink:NamedThing negative regulation of cytoplasmic transport Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport. tmpak2llvmy_mondo_relaxed.owl down-regulation of cytoplasmic streaming|down regulation of cytoplasmic transport|downregulation of cytoplasmic transport|downregulation of cytoplasmic streaming|inhibition of cytoplasmic streaming|negative regulation of cytoplasmic streaming|down-regulation of cytoplasmic transport|inhibition of cytoplasmic transport|down regulation of cytoplasmic streaming owl:Class MONDO:0011690 biolink:NamedThing Camurati-Engelmann disease, type 2 Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|Camurati-Engelmann disease, type 2|CAEND2 UMLS:C2931683|MESH:C537978|OMIM:606631|GARD:0008748 owl:Class CL:0002256 biolink:NamedThing supporting cell of carotid body A supportive cell that has characteristics of glial cell. Processes of this cell envelope the junctions between glomus cells and nerve endings. tmpak2llvmy_mondo_relaxed.owl carotid body sustentacular cell FMA:84188 tmeehan 2010-09-08T10:34:45Z cell owl:Class GO:0009890 biolink:NamedThing negative regulation of biosynthetic process Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. tmpak2llvmy_mondo_relaxed.owl down-regulation of biosynthetic process|negative regulation of formation|negative regulation of biosynthesis|downregulation of biosynthetic process|negative regulation of synthesis|negative regulation of anabolism|inhibition of biosynthetic process|down regulation of biosynthetic process owl:Class MONDO:0005699 biolink:NamedThing cervicofacial actinomycosis A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. tmpak2llvmy_mondo_relaxed.owl lumpy jaw|cervicofacial actinomycotic infection MESH:D000197|SCTID:23014006|EFO:0007203|UMLS:C0001264|ICD9:039.3|NCIT:C34351|ICD10:A42.2 owl:Class GO:0044107 biolink:NamedThing cellular alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019230 biolink:NamedThing inborn disorder of ornithine or proline metabolism tmpak2llvmy_mondo_relaxed.owl disorder of ornithine or proline metabolism UMLS:CN227595|Orphanet:79185 owl:Class UBERON:0005214 biolink:NamedThing inner renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl kidney inner medulla interstitium|papillary interstitium|inner medullary interstitium owl:Class MONDO:0003287 biolink:NamedThing central nervous system leiomyoma A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the CNS|central nervous system leiomyoma|leiomyoma of the central nervous system|leiomyoma of CNS|leiomyoma of central nervous system NCIT:C6998|DOID:5126|UMLS:C1334382 owl:Class UBERON:0003656 biolink:NamedThing mesopodium bone A bone that is part of a mesopodial skeleton. tmpak2llvmy_mondo_relaxed.owl mesopodial bone|carpal/tarsal bone|mesopod bone|basipodium bone owl:Class MONDO:0008327 biolink:NamedThing exfoliation syndrome An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. tmpak2llvmy_mondo_relaxed.owl Pseudoexfoliation glaucoma|Pseudoexfoliation of the lens|XFS|Pseudoexfoliation syndrome|XFG|exfoliation syndrome|exfoliation glaucoma DOID:13641|ICD9:365.52|SCTID:111514006|NCIT:C129025|UMLS:C0206368|EFO:0004235|OMIM:177650|MESH:D017889 owl:Class MONDO:0001554 biolink:NamedThing phacogenic glaucoma Secondary glaucoma caused by either excessive size or spheric shape of the lens. tmpak2llvmy_mondo_relaxed.owl phacomorphic glaucoma|lens induced angle closure glaucoma|lens swelling glaucoma DOID:12571|UMLS:C0339590|SCTID:392300000|ICD9:365.59 owl:Class MONDO:0018472 biolink:NamedThing familial isolated trichomegaly Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. tmpak2llvmy_mondo_relaxed.owl DOID:0111566|SCTID:764523004|Orphanet:411788 owl:Class MONDO:0021027 biolink:NamedThing genetic hair anomaly An instance of hair anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic hair anomaly Orphanet:183450 owl:Class MONDO:0012898 biolink:NamedThing narcolepsy 4, susceptibility to tmpak2llvmy_mondo_relaxed.owl NRCLP4|narcolepsy 4, susceptibility to UMLS:C2676275|OMIM:612417 owl:Class MONDO:0009602 biolink:NamedThing metaphyseal modeling abnormality, skin lesions, and spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Roy Maroteaux Kremp syndrome|metaphyseal modeling abnormality, skin lesions, and spastic paraplegia MESH:C535875|GARD:0000217|OMIM:250500|UMLS:C1855164 owl:Class CL:0002632 biolink:NamedThing epithelial cell of lower respiratory tract tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-06-21T12:29:31Z cell owl:Class CL:0002368 biolink:NamedThing respiratory epithelial cell An endo-epithelial cell of the respiratory tract. tmpak2llvmy_mondo_relaxed.owl airway epithelial cell BTO:0004533 tmeehan 2010-09-23T04:38:49Z cell owl:Class MONDO:0032748 biolink:NamedThing spermatogenic failure 38 tmpak2llvmy_mondo_relaxed.owl SPERMATOGENIC FAILURE 38|SPGF38 OMIM:618433 owl:Class MONDO:0100326 biolink:NamedThing Glanzmann thrombasthenia tmpak2llvmy_mondo_relaxed.owl Glanzmann thrombasthenia OMIMPS:273800 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0043226 biolink:NamedThing postpartum amenorrhea-galactorrhea syndrome tmpak2llvmy_mondo_relaxed.owl Frommel's disease|persistent postpartum amenorrhea-galactorrhea syndrome|syndrome, Chiari-Frommel|Chiari-frommel syndrome|disease, Frommel's|postpartum amenorrhoea-galactorrhea syndrome|Chiari Frommel syndrome|disease, Frommel|postpartum amenorrhea-galactorrhea syndrome|Frommel disease GARD:0006037|MESH:D002640|SCTID:85039006|EFO:1001291 owl:Class MONDO:0022746 biolink:NamedThing chromosome 13p duplication tmpak2llvmy_mondo_relaxed.owl trisomy 13p|Duplication 13p|chromosome 13p, trisomy MESH:C535450|UMLS:CN037021 owl:Class UBERON:0012351 biolink:NamedThing urachal lumen A anatomical space that is enclosed by a urachus. tmpak2llvmy_mondo_relaxed.owl urachus lumen owl:Class GO:0042632 biolink:NamedThing cholesterol homeostasis Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. tmpak2llvmy_mondo_relaxed.owl positive regulation of cholesterol homeostasis|regulation of cholesterol homeostasis owl:Class GO:0055092 biolink:NamedThing sterol homeostasis Any process involved in the maintenance of an internal steady state of sterol within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002341 biolink:NamedThing granulomatous angiitis Inflammation of the arteries that is characterized by the presence of granulomas. tmpak2llvmy_mondo_relaxed.owl Granulomatous arteritis DOID:2555|NCIT:C34653|UMLS:C0018202 owl:Class MONDO:0043494 biolink:NamedThing arteritis An inflammatory process affecting an artery. tmpak2llvmy_mondo_relaxed.owl Arteritides|inflammation of artery|artery inflammation|arteritis|arterial Inflammation|Inflammation, arterial HP:0012089|EFO:0009011|MESH:D001167|SCTID:52089001|NCIT:C34399 owl:Class HGNC:17797 biolink:NamedThing MAP3K20 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010398 biolink:NamedThing syndromic X-linked intellectual disability 14 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. tmpak2llvmy_mondo_relaxed.owl syndromic X-linked intellectual disability type 14|syndromic X-linked intellectual disability 14|intellectual disability, X-linked, syndromic type 14|mental retardation, X-linked, syndromic 14|intellectual disability, X-linked, syndromic 14|mental retardation, X-linked, syndromic type 14|UPF3B X-linked syndromic intellectual disability|MRXS14|X-linked syndromic intellectual disability caused by mutation in UPF3B OMIM:300676|MESH:C567063|DOID:0060821|ICD10:Q87.8|UMLS:C1970822 owl:Class MONDO:0010749 biolink:NamedThing trigonocephaly-short stature-developmental delay syndrome Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. tmpak2llvmy_mondo_relaxed.owl trigonocephaly, short stature and developmental delay|Say-Meyer syndrome|trigonocephaly, short stature, and retarded psychomotor development|Say Meyer syndrome|trigonocephaly with short stature and developmental delay MESH:C536620|GARD:0000243|SCTID:733066002|ICD10:Q87.0|OMIM:314320|Orphanet:3369 owl:Class GO:0051985 biolink:NamedThing negative regulation of chromosome segregation Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpak2llvmy_mondo_relaxed.owl down-regulation of chromosome segregation|downregulation of chromosome segregation|inhibition of chromosome segregation|down regulation of chromosome segregation owl:Class MONDO:0010040 biolink:NamedThing ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability tmpak2llvmy_mondo_relaxed.owl ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability UMLS:C3151619|OMIM:270500 owl:Class NCIT:C37109 biolink:NamedThing Malignant Epithelial Spindle Cell tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C53637 biolink:NamedThing Malignant Spindle Cell tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3960 biolink:NamedThing FSCN2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046005 biolink:NamedThing positive regulation of circadian sleep/wake cycle, REM sleep Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. tmpak2llvmy_mondo_relaxed.owl positive regulation of REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|up-regulation of circadian sleep/wake cycle, REM sleep owl:Class MONDO:0009181 biolink:NamedThing epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl EBS-MD|Epidermolysa bullosa simplex with muscular dystrophy|epidermolysis bullosa simplex with muscular dystrophy|MD-EBS|Epidermolysa bullosa simplex and limb girdle muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|MDEBS|limb-girdle muscular dystrophy with epidermolysis bullosa simplex|EBSMD UMLS:C2931072|ICD10:Q81.0|Orphanet:257|SCTID:723308003|MESH:C535955|OMIM:226670|GARD:0002137|DOID:0090017 https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy owl:Class NCBITaxon:1930602 biolink:NamedThing Psocodea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000710 biolink:NamedThing gastroduodenal Crohn disease An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite. tmpak2llvmy_mondo_relaxed.owl upper GI Crohn's disease|gastroduodenal Crohn's disease DOID:0060191|ICD10:K50.0 owl:Class MONDO:0005668 biolink:NamedThing bird fancier's lung Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. tmpak2llvmy_mondo_relaxed.owl pigeon-breeder's lung|pigeon breeder's lung|poultry worker's lung|Avian hypersensitivity pneumonitis|bird fancier's lung|bird-fanciers' lung|bird-breeder's lung|pigeon-breeder lung disease|bird-fancier's lung|bird breeder's lung|bird fancier lung UMLS:C0005592|MESH:D001716|SCTID:69339004|NCIT:C34425|MedDRA:10004941|ICD10:J67.2|DOID:13891|EFO:0007170|Orphanet:99908|ICD9:495.2 owl:Class MONDO:0020077 biolink:NamedThing myelodysplastic/myeloproliferative disease Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. tmpak2llvmy_mondo_relaxed.owl GARD:0009351|Orphanet:98275|MESH:D054437 owl:Class GO:0006885 biolink:NamedThing regulation of pH Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. tmpak2llvmy_mondo_relaxed.owl hydrogen ion homeostasis owl:Class GO:0055067 biolink:NamedThing monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904783 biolink:NamedThing positive regulation of NMDA glutamate receptor activity Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity. tmpak2llvmy_mondo_relaxed.owl up regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of NMDA receptor|activation of NMDA glutamate receptor activity|up-regulation of NMDA glutamate receptor activity|positive regulation of NMDA receptor|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA glutamate receptor activity|activation of NMDA receptor|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA receptor|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA receptor|upregulation of NMDA glutamate receptor activity owl:Class GO:2001259 biolink:NamedThing positive regulation of cation channel activity Any process that activates or increases the frequency, rate or extent of cation channel activity. tmpak2llvmy_mondo_relaxed.owl positive regulation of cation diffusion facilitator activity|positive regulation of nonselective cation channel activity owl:Class MONDO:0003453 biolink:NamedThing conjunctival intraepithelial neoplasm tmpak2llvmy_mondo_relaxed.owl intraepithelial neoplasia of conjunctiva|conjunctiva intraepithelial neoplasia|intraepithelial neoplasia of the conjunctiva|conjunctival intraepithelial neoplasia ICD9:239.89|SCTID:418134006|NCIT:C6120|UMLS:C1333148|DOID:5465 owl:Class MONDO:0020204 biolink:NamedThing conjunctival tumor A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. tmpak2llvmy_mondo_relaxed.owl conjunctival neoplasm|neoplasm of the conjunctiva|neoplasm of conjunctiva|conjunctival neoplasms|tumor of the conjunctiva|conjunctiva tumor|conjunctiva neoplasm|conjunctival tumor|conjunctiva neoplasm (disease)|tumor of conjunctiva Orphanet:98616|NCIT:C2961 owl:Class MONDO:0016405 biolink:NamedThing sterol metabolism disorder with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:225710|UMLS:CN226918 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: MONDO_0019256 MONDO_0019256 owl:Class MONDO:0016583 biolink:NamedThing familial intestinal malrotation-facial anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type|Stalker-Chitayat syndrome ICD10:Q43.3|Orphanet:2454|GARD:0005000 owl:Class GO:0001704 biolink:NamedThing formation of primary germ layer The formation of the ectoderm, mesoderm and endoderm during gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054588 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 2 tmpak2llvmy_mondo_relaxed.owl Noonan syndrome-like disorder with loose anagen hair 2|NSLH2 OMIM:617506 owl:Class MONDO:0011899 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. tmpak2llvmy_mondo_relaxed.owl Noonan syndrome-like disorder with loose anagen hair 1|NS/LAH|Noonan syndrome-like disorder with loose anagen hair|Tosti syndrome|NSLH|Noonan-like syndrome with loose anagen hair|NSLH1 MESH:C564342|Orphanet:2701|GARD:0010719|ICD10:Q87.1|SCTID:723444009|OMIMPS:607721|UMLS:C1843181|UMLS:C3501846 owl:Class GO:2000767 biolink:NamedThing positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013063 biolink:NamedThing ventricular fibrillation, paroxysmal familial, 2 Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. tmpak2llvmy_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial, type 2|ventricular fibrillation, paroxysmal familial, 2|VF2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease) OMIM:612956|UMLS:C2751829|MESH:C567841 owl:Class MONDO:0100234 biolink:NamedThing paroxysmal familial ventricular fibrillation A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. tmpak2llvmy_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial|paroxysmal familial ventricular fibrillation|idiopathic ventricular fibrillation, non Brugada type|idiopathic ventricular fibrillation|paroxysmal ventricular fibrillation|paroxysmal familial ventricular fibrillation (disorder)|IVF GARD:0004227|Orphanet:228140 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2524 owl:Class MONDO:0006462 biolink:NamedThing thyroid gland diffuse large B-cell lymphoma A diffuse large B-cell lymphoma primarily involving the thyroid gland. tmpak2llvmy_mondo_relaxed.owl diffuse large B-cell lymphoma of thyroid gland|thyroid diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid|diffuse large B-cell lymphoma of the thyroid gland|diffuse large B-cell lymphoma of the thyroid|primary thyroid gland diffuse large B-cell lymphoma|thyroid gland diffuse large B-cell lymphoma NCIT:C6046|UMLS:C1336749|EFO:1000587 owl:Class CHEBI:35427 biolink:NamedThing ortho-fused polycyclic hydrocarbon tmpak2llvmy_mondo_relaxed.owl ortho-fused polycyclic hydrocarbon|ortho-fused polycyclic hydrocarbons owl:Class MONDO:0016230 biolink:NamedThing simple vascular malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:211243 owl:Class MONDO:0011758 biolink:NamedThing Hurler syndrome Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. tmpak2llvmy_mondo_relaxed.owl Hurler disease|MPSIH|Hurler syndrome|MPS1-H|MPS1H|MPS I H|mucopolysaccharidosis IH|mucopolysaccharidosis type IH|mucopolysaccharidosis type 1H GARD:0012559|NCIT:C61261|ICD10:E76.0|OMIM:607014|DOID:0111390|Orphanet:93473 owl:Class UBERON:0001789 biolink:NamedThing outer nuclear layer of retina The layer within the retina where the photoreceptor cell bodies reside. tmpak2llvmy_mondo_relaxed.owl neural retina outer nuclear layer|stratum nucleare externum retinae|outer nuclear layer|retina, outer nuclear layer|ONL|external nuclear layer|retinal outer nuclear layer|retina outer nuclear layer|retinal outer nuclear layers|layer of outer granules|stratum nucleare externum (retina) owl:Class MONDO:0018342 biolink:NamedThing Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome with JATD|JBTS with JATD Orphanet:397715|UMLS:C4518774|SCTID:733418003|ICD10:Q04.3|UMLS:CN225944 owl:Class MONDO:0042452 biolink:NamedThing tertiary lesion of yaws tmpak2llvmy_mondo_relaxed.owl tertiary lesion of yaws|tertiary yaws|tertiary stage of yaws SCTID:88037009|UMLS:C0343833 owl:Class UBERON:0000487 biolink:NamedThing simple squamous epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA] tmpak2llvmy_mondo_relaxed.owl simple squamous epithelia|epithelium simplex squamosum owl:Class MONDO:0009145 biolink:NamedThing SchC6pf-Schulz-Passarge syndrome A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. tmpak2llvmy_mondo_relaxed.owl eccrine tumors-ectodermal dysplasia|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome|SChöPF-Schulz-Passarge syndrome|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|SSPS|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|SCHOPF-Schulz-Passarge syndrome|eccrine tumors with ectodermal dysplasia DOID:0111647|SCTID:700062000|Orphanet:50944|ICD9:758.89|MESH:C565607|ICD10:Q82.8|UMLS:C1857069|OMIM:224750 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0045069 biolink:NamedThing minor salivary gland carcinoma A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma of minor salivary gland|carcinoma of the minor salivary gland|minor salivary gland carcinoma|minor salivary gland cancer NCIT:C5957|UMLS:C1334771 owl:Class MONDO:0009378 biolink:NamedThing hyper-beta-alaninemia Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. tmpak2llvmy_mondo_relaxed.owl hyperbetaalaninemia|hyper-beta-alaninemia|hyperalaninemia OMIM:237400|ICD9:270.8|Orphanet:309147|UMLS:C0268630|ICD10:E79.8|SCTID:2359002|MESH:C562684|GARD:0010267 https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia owl:Class MONDO:0011651 biolink:NamedThing intellectual disability, short stature, facial anomalies, and joint dislocations tmpak2llvmy_mondo_relaxed.owl intellectual disability, short stature, facial anomalies, and JOINT dislocations|mental retardation, short stature, facial anomalies, and JOINT dislocations UMLS:C1853507|MESH:C565248|OMIM:606220 owl:Class MONDO:0017460 biolink:NamedThing syndactyly type 6 Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. tmpak2llvmy_mondo_relaxed.owl unilateral syndactyly of digits 2-5|syndactyly, mitten type|mitten hand UMLS:CN203203|ICD10:Q70.1|SCTID:763624007|Orphanet:295012 owl:Class GO:0045932 biolink:NamedThing negative regulation of muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction. tmpak2llvmy_mondo_relaxed.owl down-regulation of muscle contraction|inhibition of muscle contraction|down regulation of muscle contraction|downregulation of muscle contraction owl:Class MONDO:0003171 biolink:NamedThing pineal gland astrocytoma A astrocytoma that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal astrocytic tumor|pineal body astrocytoma|astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma (excluding glioblastoma)|astrocytoma of pineal gland|astrocytoma of the pineal gland|pineal astrocytoma DOID:4858|NCIT:C8274|UMLS:C0280795 owl:Class MONDO:0012223 biolink:NamedThing hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate tmpak2llvmy_mondo_relaxed.owl hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate|Marie Unna-like scalp hypotrichosis OMIM:609250|MESH:C563765|UMLS:C1836521 owl:Class HGNC:10801 biolink:NamedThing SFTPB tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:9526 biolink:NamedThing Catarrhini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:314293 biolink:NamedThing Simiiformes tmpak2llvmy_mondo_relaxed.owl Anthropoidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003508 biolink:NamedThing choriocarcinoma of testis A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpak2llvmy_mondo_relaxed.owl choriocarcinoma of testis|testicular choriocarcinoma|testis choriocarcinoma (disease)|choriocarcinoma of the testis|choriocarcinoma DOID:5551|EFO:1000564|UMLS:C0238449|NCIT:C7733|ONCOTREE:TCCA owl:Class MONDO:0002871 biolink:NamedThing testicular trophoblastic tumor A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. tmpak2llvmy_mondo_relaxed.owl testicular trophoblastic tumor UMLS:C1515301|DOID:4084|NCIT:C39934 owl:Class MONDO:0008150 biolink:NamedThing osteoglophonic dwarfism Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. tmpak2llvmy_mondo_relaxed.owl osteoglophonic dwarfism|OGD|OSTEOGLOPHONIC dysplasia|Fairbank-Keats syndrome|Osteoglosphonic dysplasia DOID:0111532|OMIM:166250|ICD10:Q87.1|SCTID:254144002|GARD:0004142|Orphanet:2645|MESH:C536050 owl:Class MONDO:0009712 biolink:NamedThing congenital multicore myopathy with external ophthalmoplegia An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. tmpak2llvmy_mondo_relaxed.owl multiminicore disease with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia|minicore myopathy, antenatal onset, with arthrogryposis|multiminicore myopathy multicore myopathy with external ophthalmoplegia|minicore myopathy|multicore myopathy with external ophthalmoplegia|multicore myopathy ICD10:G71.2|NCIT:C150608|UMLS:C1850674|Orphanet:98905|GARD:0010316|OMIM:255320 owl:Class GO:0045668 biolink:NamedThing negative regulation of osteoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of osteoblast differentiation|down regulation of osteoblast differentiation|down-regulation of osteoblast differentiation|inhibition of osteoblast differentiation owl:Class CHEBI:15372 biolink:NamedThing 5,6,7,8-tetrahydrobiopterin tmpak2llvmy_mondo_relaxed.owl 2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one|5,6,7,8-tetrahydrobiopterin|5,6,7,8-TETRAHYDROBIOPTERIN|Tetrahydrobiopterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|BH4|5,6,7,8-Tetrahydrobiopterin owl:Class CHEBI:23824 biolink:NamedThing diol A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. tmpak2llvmy_mondo_relaxed.owl diols owl:Class MONDO:0004253 biolink:NamedThing intraductal breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts. tmpak2llvmy_mondo_relaxed.owl breast intraductal papillomatosis|intraductal papillomatosis of breast|intraductal papillomatosis of the breast|intraductal breast papillomatosis DOID:7511|UMLS:C1334247|NCIT:C5201 owl:Class MONDO:0002060 biolink:NamedThing intraductal papilloma An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. tmpak2llvmy_mondo_relaxed.owl ductal papilloma|duct papilloma|intraductal papilloma|intraductal papilloma (morphologic abnormality)|duct adenoma UMLS:C0206713|MESH:D018300|DOID:1627|NCIT:C3785|ICDO:8503/0 owl:Class ECTO:0000258 biolink:NamedThing exposure to steroid hormone An exposure to steroid hormone. tmpak2llvmy_mondo_relaxed.owl exposure to steroid hormone owl:Class FOODON:00003194 biolink:NamedThing vegetarian food product A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet). tmpak2llvmy_mondo_relaxed.owl vegetarian food 2019-09-11 21:12:43+00:00 https://en.wikipedia.org/wiki/Vegetarian_cuisine owl:Class NCBITaxon:1870884 biolink:NamedThing Clostridioides tmpak2llvmy_mondo_relaxed.owl PMID:27370902|GC_ID:11|PMID:27902176 ncbi_taxonomy owl:Class NCBITaxon:186804 biolink:NamedThing Peptostreptococcaceae tmpak2llvmy_mondo_relaxed.owl Clostridium cluster XI GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001398 biolink:NamedThing ureter benign neoplasm Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom. tmpak2llvmy_mondo_relaxed.owl benign ureter neoplasm|ureteral benign neoplasm|benign neoplasm of the ureter|benign neoplasm of ureter|ureter benign neoplasm|benign ureteral neoplasm|benign tumor of the ureter|benign ureter tumor|benign ureteric neoplasm|benign ureteral tumor|ureteral tumor|benign tumor of ureter DOID:11885|ICD9:223.2|NCIT:C3617|SCTID:92464009 owl:Class ENVO:01000317 biolink:NamedThing aquatic environment An environment whose dynamics are strongly influenced by water. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007232 biolink:NamedThing autosomal dominant brachyolmia Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. tmpak2llvmy_mondo_relaxed.owl brachyolmia type 3|brachyolmia, autosomal dominant|brachyrachia|BCYM3|brachyolmia autosomal dominant OMIM:113500|SCTID:717264003|GARD:0010429|ICD10:Q76.3|Orphanet:93304 owl:Class GO:0060407 biolink:NamedThing negative regulation of penile erection Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060405 biolink:NamedThing regulation of penile erection Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017173 biolink:NamedThing non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. tmpak2llvmy_mondo_relaxed.owl nonsyndromic male infertility due to sperm motility disorder|isolated male infertility due to sperm motility disorder|non-syndromic male infertility due asthenozoospermia ICD10:N46|Orphanet:276234|UMLS:CN202602 owl:Class MONDO:0018247 biolink:NamedThing CADDS tmpak2llvmy_mondo_relaxed.owl contiguous ABCD1 DXS1357E deletion syndrome|CADDS|Zellweger-like contiguous gene deletion syndrome GARD:0012472|UMLS:CN180200|Orphanet:369942|ICD10:Q87.8 owl:Class HGNC:9075 biolink:NamedThing SERPINF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003531 biolink:NamedThing papillary eccrine carcinoma tmpak2llvmy_mondo_relaxed.owl eccrine papillary adenocarcinoma|papillary eccrine adenoma|tubular apocrine adenoma|papillary apocrine fibroadenoma|digital papillary adenocarcinoma|papillary eccrine carcinoma UMLS:C1367774|SCTID:254709009|DOID:5591|NCIT:C27254 owl:Class HGNC:2323 biolink:NamedThing CPS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098660 biolink:NamedThing inorganic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl inorganic ion membrane transport|transmembrane inorganic ion transport owl:Class HGNC:735 biolink:NamedThing ASAH1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034641 biolink:NamedThing cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular nitrogen compound metabolism owl:Class CL:0000052 biolink:NamedThing totipotent stem cell A stem cell from which all cells of the body can form. tmpak2llvmy_mondo_relaxed.owl totipotential stem cell FMA:84790 cell owl:Class MONDO:0015029 biolink:NamedThing reticular perineurioma tmpak2llvmy_mondo_relaxed.owl Orphanet:100000|UMLS:CN197319 owl:Class MONDO:0015031 biolink:NamedThing extraneural perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. tmpak2llvmy_mondo_relaxed.owl soft tissue perineurioma Orphanet:100002|SCTID:768926005|UMLS:CN197321 owl:Class MONDO:0018496 biolink:NamedThing ARX-related encephalopathy-brain malformation spectrum tmpak2llvmy_mondo_relaxed.owl Orphanet:423655 owl:Class UBERON:0006279 biolink:NamedThing pleuroperitoneal canal Each of the canals that links the peritoneal cavity and the caudal part of a pleural cavity. tmpak2llvmy_mondo_relaxed.owl pleuroperitoneal channel owl:Class CHEBI:49020 biolink:NamedThing hormone antagonist A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpak2llvmy_mondo_relaxed.owl hormone antagonists owl:Class HGNC:8618 biolink:NamedThing PAX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030941 biolink:NamedThing erythrokeratodermia variabilis et progressiva 7 tmpak2llvmy_mondo_relaxed.owl EKVP7|erythrokeratodermia variabilis et progressiva 7 OMIM:619209 owl:Class MONDO:0013240 biolink:NamedThing maturity-onset diabetes of the young type 10 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene. tmpak2llvmy_mondo_relaxed.owl maturity-onset diabetes of the young, type 10|MODY10|maturity-onset diabetes of the young (disease) caused by mutation in INS|INS maturity-onset diabetes of the young (disease) DOID:0111108|UMLS:C3150617|OMIM:613370|SCTID:609577006 owl:Class MONDO:0016913 biolink:NamedThing partial deletion of the long arm of chromosome 15 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 15q|chromosome 15q deletion|deletion 15q|15q monosomy|15q deletion|partial monosomy of chromosome 15q|partial deletion of the long arm of chromosome type 15|partial monosomy 15q|partial monosomy of the long arm of chromosome 15|monosomy 15q MESH:C538038|GARD:0001746|ICD10:Q93.5|Orphanet:262119 owl:Class HGNC:11784 biolink:NamedThing THBD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034706 biolink:NamedThing proliferating neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004696 biolink:NamedThing venous system smooth muscle A portion of smooth muscle tissue that is part of a venous system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7720 biolink:NamedThing NEB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034763 biolink:NamedThing negative regulation of transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl downregulation of transmembrane transport|inhibition of transmembrane transport|negative regulation of membrane transport|down regulation of transmembrane transport|down-regulation of transmembrane transport owl:Class MONDO:0008010 biolink:NamedThing antigen defined by monoclonal antibody Aj9 tmpak2llvmy_mondo_relaxed.owl Msk1|antigen defined by monoclonal antibody Aj9 OMIM:158030 owl:Class MONDO:0004929 biolink:NamedThing constant exophthalmos tmpak2llvmy_mondo_relaxed.owl UMLS:C0155267|DOID:9945|ICD9:376.31|SCTID:89907009|ICD10:H05.24 owl:Class MONDO:0011242 biolink:NamedThing Bartter disease type 4a Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. tmpak2llvmy_mondo_relaxed.owl Bartter syndrome type 4a|Bartter syndrome, type 4A|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|sensorineural deafness with mild renal dysfunction|Bartter disease type 4a|BSND Bartter syndrome|BARTS4A|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|BSND|Bartter syndrome caused by mutation in BSND UMLS:C1865270|OMIM:602522|ICD10:E26.8|DOID:0110145|SCTID:717791000 owl:Class GO:0002441 biolink:NamedThing histamine secretion involved in inflammatory response The regulated release of histamine by a cell as part of an inflammatory response. tmpak2llvmy_mondo_relaxed.owl histamine secretion involved in acute inflammatory response owl:Class GO:0030187 biolink:NamedThing melatonin biosynthetic process The chemical reactions and pathways resulting in the formation of melatonin (N-acetyl-5-methoxytryptamine). tmpak2llvmy_mondo_relaxed.owl melatonin synthesis|melatonin biosynthesis|melatonin anabolism|melatonin formation owl:Class GO:0042435 biolink:NamedThing indole-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpak2llvmy_mondo_relaxed.owl indole derivative biosynthesis|indole-containing compound synthesis|indole-containing compound biosynthesis|indole-containing compound anabolism|indole-containing compound formation|indole derivative biosynthetic process owl:Class MONDO:0020296 biolink:NamedThing congenital arteriovenous fistula An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. tmpak2llvmy_mondo_relaxed.owl MedDRA:10003226|Orphanet:98731|MESH:D001164|SCTID:234148007|NCIT:C35377 owl:Class GO:1905953 biolink:NamedThing negative regulation of lipid localization Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. tmpak2llvmy_mondo_relaxed.owl inhibition of lipid localization|downregulation of lipid localisation|negative regulation of lipid localisation|down regulation of lipid localization|down-regulation of lipid localisation|down-regulation of lipid localization|down regulation of lipid localisation|inhibition of lipid localisation|downregulation of lipid localization owl:Class GO:0043043 biolink:NamedThing peptide biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. tmpak2llvmy_mondo_relaxed.owl peptide synthesis|peptide biosynthesis|peptide formation|peptide anabolism owl:Class MONDO:0044344 biolink:NamedThing Schistosoma japonicum infectious disease An infection that is caused by Schistosoma japonicum. tmpak2llvmy_mondo_relaxed.owl Katamaya syndrome|Schistosoma japonicum disease or disorder|Schistosoma japonicum infection|schistosomiasis japonicum|Katayama disease|Asiatic schistosomiasis|Schistosoma japonicum caused disease or disorder|Katamaya fever MESH:D012554|NCIT:C35001|SCTID:268058007 owl:Class CL:0001025 biolink:NamedThing Kit-positive, Sca1-positive common lymphoid progenitor A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low. tmpak2llvmy_mondo_relaxed.owl CD217-positive common lymphocyte precursor|CD217-positive common lymphocyte progenitor|CD217-positive common lymphoid precursor Markers are associated with mouse cells. cell owl:Class CL:0001030 biolink:NamedThing CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor tmpak2llvmy_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1111100)(PMID:19243617). cell owl:Class MONDO:0009705 biolink:NamedThing carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. tmpak2llvmy_mondo_relaxed.owl Carnitine palmitoyl transferase IA deficiency|carnitine palmitoyl transferase 1A deficiency|Carnitine Palmitoyltransferase 1A deficiency|disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|hepatic CPT deficiency type I|CPT1A deficiency|L-CPT1 deficiency|hepatic carnitine palmitoyltransferase 1 deficiency|Carnitine Palmitoyltransferase 1 deficiency|CPT I deficiency|L-CPT 1 deficiency|carnitine palmitoyltransferase I deficiency|CPT 1 deficiency|Carnitine palmitoyltransferase 1A deficiency|CPT1A disorder of carnitine cycle and carnitine transport|carnitine palmitoyl transferase IA deficiency|hepatic CPT1|hepatic carnitine palmitoyl transferase I deficiency|Carnitine palmitoyl transferase 1 deficiency|L-CPTI deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|CPT deficiency, hepatic, type 1 Orphanet:156|HGNC:2328|NCIT:C98871|DOID:0090129|UMLS:C1829703|SCTID:238001003|ICD10:E71.3|GARD:0001120|MESH:C535588|ICD9:277.85|OMIM:255120 Editor note: consider adding sibling for CPT-1B https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency owl:Class MONDO:0017716 biolink:NamedThing disorder of carnitine cycle and carnitine transport tmpak2llvmy_mondo_relaxed.owl Orphanet:309130|UMLS:CN227184|ICD10:E71.3 owl:Class MONDO:0013704 biolink:NamedThing intellectual disability, autosomal recessive 30 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 30|MRT30|mental retardation, autosomal recessive 30 OMIM:614342|UMLS:C3280540 owl:Class GO:0006469 biolink:NamedThing negative regulation of protein kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. tmpak2llvmy_mondo_relaxed.owl downregulation of protein kinase activity|down-regulation of protein kinase activity|inhibition of protein kinase activity|down regulation of protein kinase activity owl:Class MONDO:0024291 biolink:NamedThing vascular malformation A non-neoplastic disorder that is the result of defects of vascular morphogenesis. tmpak2llvmy_mondo_relaxed.owl malformations, vascular|vascular malformation|malformation, vascular MESH:D054079 The majority are present at birth. Some can be acquired. owl:Class MONDO:0019063 biolink:NamedThing vascular anomaly tmpak2llvmy_mondo_relaxed.owl vascular anomaly or angioma Orphanet:68419 Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 owl:Class MONDO:0030116 biolink:NamedThing silver-russell syndrome 2 tmpak2llvmy_mondo_relaxed.owl silver-russell syndrome 2|SRS2|SILVER-RUSSELL SYNDROME 2|Uniparental Disomy, Maternal, Chromosome 7 OMIM:618905 owl:Class MONDO:0006198 biolink:NamedThing endometrial squamous cell carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells. tmpak2llvmy_mondo_relaxed.owl endometrial squamous cell carcinoma|squamous cell carcinoma of endometrium|squamous cell carcinoma of the endometrium|endometrium squamous cell carcinoma NCIT:C8719|UMLS:C1333396|DOID:5533|EFO:1000240 owl:Class MONDO:0045058 biolink:NamedThing ACTH-producing pituitary gland neoplasm An adenoma or carcinoma of the pituitary gland that produces corticotropin. tmpak2llvmy_mondo_relaxed.owl ACTH producing pituitary gland neoplasm|adrenocorticotropin secreting tumor of pituitary|adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting neoplasm of the pituitary|pituitary corticotropin secreting neoplasm|ACTH-secreting tumor of the pituitary|ACTH-producing pituitary neoplasm|ACTH-producing pituitary gland neoplasm|adrenocorticotropin secreting pituitary gland tumor|ACTH-secreting tumor of pituitary|pituitary corticotropin secreting tumor|adrenocorticotropin producing pituitary gland tumor|corticotropin secreting pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of pituitary|ACTH-producing pituitary tumor UMLS:C0278862|NCIT:C7909 owl:Class HGNC:5956 biolink:NamedThing IHH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006054 biolink:NamedThing reproductive system neoplasm A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. tmpak2llvmy_mondo_relaxed.owl neoplasm of reproductive system|reproductive tumor|reproductive system tumor|reproductive system neoplasm|reproductive system neoplasm (disease)|reproductive neoplasm|tumor of the reproductive system|tumor of reproductive system|neoplasm of the reproductive system UMLS:C0178830|NCIT:C3674|EFO:1000051 owl:Class GO:0050957 biolink:NamedThing equilibrioception The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion. tmpak2llvmy_mondo_relaxed.owl sensory perception of orientation with respect to gravity owl:Class MONDO:0016346 biolink:NamedThing hydrocephalus-obesity-hypogonadism syndrome This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. tmpak2llvmy_mondo_relaxed.owl hydrocephalus obesity hypogonadism|congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism|Sengers-Hamel-Otten syndrome UMLS:CN201182|Orphanet:2183|SCTID:721231007|GARD:0002775 owl:Class HGNC:9083 biolink:NamedThing PLOD3 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:24867 biolink:NamedThing monoatomic ion tmpak2llvmy_mondo_relaxed.owl monoatomic ions owl:Class CHEBI:33238 biolink:NamedThing monoatomic entity A monoatomic entity is a molecular entity consisting of a single atom. tmpak2llvmy_mondo_relaxed.owl monoatomic entities|atomic entity owl:Class MONDO:0011609 biolink:NamedThing atopic dermatitis 6 An atopic dermatitis associated with variation in the region 5q31-q33. tmpak2llvmy_mondo_relaxed.owl atopic dermatitis type 6|dermatitis, ATOPIC, 6|ATOD6 MESH:C565279|OMIM:605845|DOID:0110102|UMLS:C1853899 owl:Class NCBITaxon:121227 biolink:NamedThing Pthirus tmpak2llvmy_mondo_relaxed.owl Phthirus|Phtirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:121229 biolink:NamedThing Pthiridae tmpak2llvmy_mondo_relaxed.owl Phthiridae|pubic lice GC_ID:1 ncbi_taxonomy owl:Class CL:1000681 biolink:NamedThing kidney cortex interstitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001091 cell owl:Class GO:0006508 biolink:NamedThing proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. tmpak2llvmy_mondo_relaxed.owl peptidolysis|ATP-dependent proteolysis owl:Class HGNC:4218 biolink:NamedThing GDF3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060491 biolink:NamedThing regulation of cell projection assembly Any process that modulates the rate, frequency, or extent of cell projection assembly. tmpak2llvmy_mondo_relaxed.owl regulation of cell projection formation owl:Class MONDO:0019705 biolink:NamedThing primary bone dysplasia with defective bone mineralization tmpak2llvmy_mondo_relaxed.owl primary osteodysplasia with defective bone mineralization|primary skeletal dysplasia with defective bone mineralization 2022-01-01 Orphanet:93447 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class FOODON:00001304 biolink:NamedThing food fermentation A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process. tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class FOODON:03460119 biolink:NamedThing microbial/enzymatic modification process A food modification process by microbial or enzymatic action which results in molecular changes in any food component. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0119 LanguaL curation note: If salt, sugar or other food additive is used to aid in the modification process, index it by the appropriate term under *INGREDIENT ADDED*. fermented, unspecified owl:Class HGNC:8082 biolink:NamedThing NYX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000744 biolink:NamedThing lung abscess A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. tmpak2llvmy_mondo_relaxed.owl lung abscess|lung abscess (disease) lung abscess (disease) EFO:1001362|UMLS:C0024110|MESH:D008169|HP:0025044|NCIT:C99090|DOID:0060317|ICD10:J85.2|ICD9:513.0|SCTID:73452002 owl:Class MONDO:0005227 biolink:NamedThing abscess An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. tmpak2llvmy_mondo_relaxed.owl abscess (disease) abscess (disease) SCTID:128477000|Wikipedia:Abscess|MESH:D000038|NCIT:C26686|ICD9:682.9|ICD9:682.8|EFO:0003030|UMLS:C0000833 owl:Class HP:0003119 biolink:NamedThing Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Dyslipidemia|Dyslipidaemia SNOMEDCT_US:370992007|MSH:D050171|UMLS:C4025650|UMLS:C0242339 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. HP:0003611 human_phenotype owl:Class UBERON:0001118 biolink:NamedThing lobe of thyroid gland A lobe of tissue that is part of a thyroid gland. tmpak2llvmy_mondo_relaxed.owl lobuli glandulae thyroideae|thyroid gland lobe|lobus (glandula thyroidea)|thyroid lobe|lobus glandulae thyroideae owl:Class HGNC:6215 biolink:NamedThing KARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30224 biolink:NamedThing SLC52A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004758 biolink:NamedThing scotoma A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. tmpak2llvmy_mondo_relaxed.owl scotoma of blind spot area|enlarged paracaecal scotoma|scotoma (disease)|generalized visual field contraction or constriction|scotoma|blind spot area scotoma|enlarged angioscotoma|enlarged blind spot|sector or arcuate visual field defects scotoma (disease) ICD9:368.44|ICD9:368.42|DOID:9335|ICD10:H53.42|ICD10:H53.45|ICD9:368.43|MESH:D012607|ICD10:H53.43|ICD9:368.45|HP:0000575 owl:Class MONDO:0001163 biolink:NamedThing paranoid personality disorder A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. tmpak2llvmy_mondo_relaxed.owl NCIT:C92630|MESH:D010260|DOID:10938|ICD10:F60.0|SCTID:13601005|ICD9:301.0 owl:Class UBERON:0020358 biolink:NamedThing accessory XI nerve nucleus The spinal accessory nucleus lies within the cervical spinal cord (C1-C5) in the ventral horn. The nucleus ambiguus is classically said to provide the 'cranial component' of the accessory nerve. However, the very existence of this cranial component has been recently questioned and seen as contributing exclusively to the vagus nerve. The terminology continues to be used in describing both human anatomy, and that of other animals. tmpak2llvmy_mondo_relaxed.owl nucleus nervi accessorii|nucleus of the spinal accessory nerve|spinal accessory nucleus|nucleus accessorius columnae anterioris medullae spinalis|accessory neural nucleus|nucleus of the accessory nerve|nucleus of accessory nerve|accessory nucleus of anterior column of spinal cord owl:Class UBERON:0000126 biolink:NamedThing cranial nerve nucleus Nucleus that receives projections from or contains neurons that send projections through one of the cranial nerves tmpak2llvmy_mondo_relaxed.owl nucleus nervi cranialis|nucleus of cranial nerve|cranial neural nucleus owl:Class UBERON:0005103 biolink:NamedThing mesonephric epithelium An epithelium that is part of a mesonephros [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023119 biolink:NamedThing familial myelofibrosis tmpak2llvmy_mondo_relaxed.owl GARD:0008516|MESH:C536848|UMLS:C2931351 https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis owl:Class MONDO:0005102 biolink:NamedThing undifferentiated (embryonal) sarcoma An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. tmpak2llvmy_mondo_relaxed.owl embryonal sarcoma|undifferentiated sarcoma|embryonal sarcoma (undifferentiated sarcoma)|embryonal sarcoma, undifferentiated|sarcoma, undifferentiated, malignant|UES|undifferentiated (embryonal) sarcoma UMLS:C0855073|EFO:0000730|ICDO:8805/3|NCIT:C27096|GARD:0008650|ICDO:8991/3 owl:Class MONDO:0009626 biolink:NamedThing pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. tmpak2llvmy_mondo_relaxed.owl Baraitser-Brett-Piesowicz syndrome|pseudo-TORCH syndrome|Baraitser-Reardon syndrome|Baraitser Brett Piesowicz syndrome|congenital intrauterine infection-like syndrome|microcephaly - intracranial calcification - intellectual disability|band-like calcification with simplified gyration and polymicrogyria|bilateral band-like calcification with polymicrogyria|BLCPMG|microcephaly intracranial calcification|BLC-PMG|microcephaly-intracranial calcification-intellectual disability syndrome OMIMPS:251290|DOID:0050656|GARD:0000815|ICD10:Q87.8|UMLS:C3489725|GARD:0012426|Orphanet:1229|SCTID:722390006 owl:Class MONDO:0018240 biolink:NamedThing TRPV4-related bone disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227290|Orphanet:364820 owl:Class MONDO:0013907 biolink:NamedThing bilateral generalized polymicrogyria Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl bilateral generalised polymicrogyria|bilateral generalized polymicrogyria|MSSP|polymicrogyria with seizures|PMGYS|microcephaly, short stature, and polymicrogyria with or without seizures UMLS:C3553831|GARD:0010786|ICD10:Q04.3|OMIM:614833|Orphanet:208447 https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria owl:Class MONDO:0017091 biolink:NamedThing bilateral polymicrogyria Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. tmpak2llvmy_mondo_relaxed.owl Orphanet:268940|SCTID:765757003|ICD10:Q04.3 owl:Class UBERON:0005619 biolink:NamedThing secondary palatal shelf The outgrowths of the embryonic maxillary prominences that come together during prenatal development to form the secondary palate tmpak2llvmy_mondo_relaxed.owl secondary palatal shelf|lateral palatine process|palatal shelf|palatine shelf|palatal shelves owl:Class UBERON:0035550 biolink:NamedThing superficial vein Any of the veins carrying deoxygenated blood from the subcutaneous tissue layers. tmpak2llvmy_mondo_relaxed.owl superficial vessels|superficial veins|superfical vein owl:Class MONDO:0007133 biolink:NamedThing anonychia-onychodystrophy with brachydactyly type b and ectrodactyly tmpak2llvmy_mondo_relaxed.owl anonychia-onychodystrophy with brachydactyly type b and ectrodactyly|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|Kumar-Levick syndrome Orphanet:2355|OMIM:106990|MESH:C536379|UMLS:C1862842|GARD:0000711 https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly owl:Class MONDO:0008719 biolink:NamedThing acrorenal syndrome, autosomal recessive Autosomal recessive form of acrorenal syndrome. tmpak2llvmy_mondo_relaxed.owl acrorenal syndrome autosomal recessive|Curran syndrome|autosomal recessive acrorenal syndrome|acrorenal syndrome, autosomal recessive|acrorenal syndrome recessive OMIM:201310|UMLS:C0796290|MESH:C535666|GARD:0000514 owl:Class MONDO:0007059 biolink:NamedThing acrorenal syndrome Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. tmpak2llvmy_mondo_relaxed.owl acrorenal syndrome OMIM:102520|DOID:0060347|SCTID:720458005|UMLS:C3495490|MESH:C563159|Orphanet:971|ICD10:Q87.2|UMLS:CN206860 owl:Class UBERON:0001278 biolink:NamedThing epithelium of large intestine An epithelium that is part of a large intestine [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl large intestinal epithelium|large intestine epithelium|epithelial tissue of large intestine|large intestine epithelial tissue owl:Class MONDO:0016511 biolink:NamedThing infectious embryofetopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:232035 owl:Class MONDO:0044986 biolink:NamedThing lymphoid system disease A disease or disorder that involves the lymphoid system. tmpak2llvmy_mondo_relaxed.owl lymphoid system disease|disorder of lymphoid system|disease of lymphoid system|disease or disorder of lymphoid system|lymphoid system disease or disorder SCTID:111590001 owl:Class MONDO:0003588 biolink:NamedThing larynx liposarcoma A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. tmpak2llvmy_mondo_relaxed.owl lip larynx sarcoma|larynx liposarcoma|liposarcoma of larynx|laryngeal liposarcoma|liposarcoma of the larynx UMLS:C1334372|DOID:5696|NCIT:C6021 owl:Class MONDO:0013144 biolink:NamedThing antithrombin III deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. tmpak2llvmy_mondo_relaxed.owl hereditary thrombophilia due to congenital antithrombin 3 deficiency|congenital AT-III deficiency|antithrombin III deficiency|hereditary antithrombin deficiency|antithrombin 3 deficiency|congenital antithrombin III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|inherited antithrombin deficiency|thrombophilia due to antithrombin 3 deficiency|AT III deficiency|AT3D|thrombophilia due to antithrombin III deficiency DOID:3755|ICD10:D68.5|UMLS:C0272375|GARD:0006148|MESH:D020152|ICD10:D68.59|OMIM:613118|Orphanet:82|ICD9:286.9|SCTID:36351005|NCIT:C98815 owl:Class NCBITaxon:32523 biolink:NamedThing Tetrapoda tmpak2llvmy_mondo_relaxed.owl tetrapods GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054794 biolink:NamedThing hydrocephalus, congenital, 3, with brain anomalies tmpak2llvmy_mondo_relaxed.owl hydrocephalus, CONGENITAL, 3, with brain anomalies|hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|HYC3 OMIM:617967 owl:Class CHEBI:51061 biolink:NamedThing hormone receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpak2llvmy_mondo_relaxed.owl hormone receptor modulators owl:Class CHEBI:90710 biolink:NamedThing receptor modulator A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. tmpak2llvmy_mondo_relaxed.owl receptor modulators owl:Class MONDO:0016731 biolink:NamedThing desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. tmpak2llvmy_mondo_relaxed.owl DIA/DIG Orphanet:251940|UMLS:CN201979 owl:Class MONDO:0001838 biolink:NamedThing acute gonococcal prostatitis Acute form of gonococcal prostatitis. tmpak2llvmy_mondo_relaxed.owl gonococcal prostatitis|gonococcal prostatitis, acute|acute gonococcal prostatitis|gonococcal prostatitis (acute) UMLS:C0153192|SCTID:111806005|ICD9:098.12|DOID:13943 owl:Class MONDO:0009580 biolink:NamedThing intellectual disability, autosomal recessive 1 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|intellectual disability, autosomal recessive type 1|intellectual disability, autosomal recessive 1|PRSS12 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 1|mental retardation, autosomal recessive 1|MRT1 UMLS:C1855304|OMIM:249500|MESH:C565406 owl:Class MONDO:0000158 biolink:NamedThing developmental dysplasia of the hip A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. tmpak2llvmy_mondo_relaxed.owl congenital hip dysplasia|congenital dysplasia of the hip|congenital acetabular dysplasia|dysplasia of acetabulum MESH:D006618|ICD9:755.63|UMLS:C1840555|OMIMPS:142700|EFO:1000648|SCTID:52781008 owl:Class MONDO:0023199 biolink:NamedThing frontonasal dysplasia phocomelic upper limbs tmpak2llvmy_mondo_relaxed.owl GARD:0002395 https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs owl:Class HP:0002014 biolink:NamedThing Diarrhea Abnormally increased frequency of loose or watery bowel movements. tmpak2llvmy_mondo_relaxed.owl Diarrhea|Diarrhoea|Watery stool SNOMEDCT_US:267060006|MSH:D003967|SNOMEDCT_US:62315008|UMLS:C0011991 human_phenotype owl:Class HP:0011458 biolink:NamedThing Abdominal symptom A subjective manifestation of disease localized to the abdomen. tmpak2llvmy_mondo_relaxed.owl UMLS:C0740651 peter 2012-03-25T05:35:45Z human_phenotype owl:Class MONDO:0012413 biolink:NamedThing syndromic microphthalmia type 5 Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. tmpak2llvmy_mondo_relaxed.owl OTX2 syndromic microphthalmia|microphthalmia, syndromic type 5|microphthalmia syndromic 5|syndromic microphthalmia type 5|MCOPS5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction|syndromic microphthalmia/anophthalmia due to OTX2 mutation|OTX2-related eye disorders|microphthalmia, syndromic 5 Orphanet:178364|UMLS:C1864690|MESH:C566441|UMLS:C4305151|GARD:0003692|ICD10:Q11.2|OMIM:610125|SCTID:718761007 owl:Class UBERON:0004399 biolink:NamedThing epiphysis of fifth metatarsal bone An epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl metatarsal 5 epiphysis|fifth metatarsal bone epiphysis owl:Class CHEBI:64709 biolink:NamedThing organic acid Any organic molecular entity that is acidic and contains carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl organic acids owl:Class CHEBI:50860 biolink:NamedThing organic molecular entity Any molecular entity that contains carbon. tmpak2llvmy_mondo_relaxed.owl organic molecular entities|organic compounds|organic entity owl:Class MONDO:0015840 biolink:NamedThing complete septate uterus Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. tmpak2llvmy_mondo_relaxed.owl total septate uterus ICD10:Q51.2|Orphanet:180126 owl:Class MONDO:0015839 biolink:NamedThing septate uterus tmpak2llvmy_mondo_relaxed.owl ICD10:Q51.2|SCTID:22504001|MedDRA:10062606|Orphanet:180122 owl:Class MONDO:0004206 biolink:NamedThing pulmonary vein leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of the pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of pulmonary vein DOID:7388|NCIT:C5374|UMLS:C1335575 owl:Class HGNC:15901 biolink:NamedThing IFT52 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008137 biolink:NamedThing orofaciodigital syndrome X Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. tmpak2llvmy_mondo_relaxed.owl oral facial digital syndrome type 10|orofaciodigital syndrome with fibular aplasia|Ofds 10|orofaciodigital syndrome type X|OFD syndrome 10|orofaciodigital syndrome type 10|orofaciodigital syndrome type Figuera|orofaciodigital syndrome 10|oral facial digital syndrome 10|Figuera syndrome|orofaciodigital syndrome X|oral-Facial-digital syndrome, type 10|oral-facial-digital syndrome 10|oral-facial-digital syndrome type 10|oral-Facial-digital syndrome with fibular aplasia|OFD10 MESH:C563491|DOID:0060380|SCTID:722075004|GARD:0004061|Orphanet:2756|OMIM:165590|ICD10:Q87.0|UMLS:C1833796 https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 owl:Class MONDO:0005921 biolink:NamedThing Plasmodium vivax malaria Malaria resulting from infection by Plasmodium vivax. tmpak2llvmy_mondo_relaxed.owl vivax malaria|malaria by Plasmodium vivax ICD9:084.1|EFO:0007445|SCTID:27052006|NCIT:C34800|ICD10:B51.9|DOID:12978|UMLS:C0024537|MESH:D016780|ICD10:B51 owl:Class MONDO:0013939 biolink:NamedThing peroxisome biogenesis disorder 7B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 7B|peroxisome biogenesis disorder type 7B|PBD7B OMIM:614873|UMLS:C3553951 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100271 biolink:NamedThing peroxisome biogenesis disorder due to PEX26 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene. tmpak2llvmy_mondo_relaxed.owl PEX26 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX26 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0021643 biolink:NamedThing mesenteric varices A varicose disease that involves the mesentery. tmpak2llvmy_mondo_relaxed.owl varicose disease of mesentery|mesentery varicose disease HP:0002626|SCTID:22949006 owl:Class MONDO:0015871 biolink:NamedThing benign breast phyllodes tumor A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors. tmpak2llvmy_mondo_relaxed.owl benign phyllodes neoplasm of the breast|cystosarcoma phyllodes|cystosarcoma phylloide|benign cystosarcoma phyllodes|phylloide tumor of the breast|breast benign phyllodes neoplasm|benign breast phyllodes tumor|phyllodes tumor, benign (morphologic abnormality)|cystosarcoma phyllode|benign phyllodes neoplasm|phyllodes neoplasm|cystosarcoma phyllodes NOS (morphologic abnormality)|benign phyllodes neoplasm of breast|breast phyllodes tumor, benign|BPT|cystosarcoma phylloide of the breast|phyllode tumor of the breast|benign phyllodes tumor of breast|cystosarcoma phyllode of the breast|benign phyllodes tumor of the breast NCIT:C5196|UMLS:C1332533|SCTID:720344007|ONCOTREE:BPT|ICD10:D48.6|Orphanet:180261|MedDRA:10011813|DOID:1631 owl:Class MONDO:0037002 biolink:NamedThing benign phyllodes tumor A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features. tmpak2llvmy_mondo_relaxed.owl phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes|benign phyllodes tumor ICDO:9020/0|NCIT:C4274 owl:Class MONDO:0016455 biolink:NamedThing virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. tmpak2llvmy_mondo_relaxed.owl pilomatrix dysplasia|Cyclosporine-induced folliculodystrophy|TS|VATS|trichodysplasia spinulosa Orphanet:228379|UMLS:C3267126 owl:Class MONDO:0024294 biolink:NamedThing skin disease caused by infection Skin diseases caused by bacteria, fungi, parasites, or viruses. tmpak2llvmy_mondo_relaxed.owl diseases, infectious skin|skin disease, infectious|disease, infectious skin|infectious skin disease|infectious skin diseases MESH:D012874 owl:Class MONDO:0003595 biolink:NamedThing sclerosing liposarcoma A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. tmpak2llvmy_mondo_relaxed.owl UMLS:C0334469|NCIT:C6507|ICD9:171.9|SCTID:404068003|DOID:5704 owl:Class MONDO:0019144 biolink:NamedThing hereditary thrombophilia due to congenital protein S deficiency Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. tmpak2llvmy_mondo_relaxed.owl hereditary thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency|autosomal recessive thrombophilia due to congenital protein S deficiency ICD10:D68.5|Orphanet:743 owl:Class UBERON:0001694 biolink:NamedThing petrous part of temporal bone The petrous portion of the temporal bone or pyramid is pyramidal and is wedged in at the base of the skull between the sphenoid and occipital bones. Directed medially, forward, and a little upward, it presents for examination a base, an apex, three surfaces, and three angles, and contains, in its interior, the essential parts of the organ of hearing. The petrous portion is among the most basal elements of the skull and forms part of the endocranium.[WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl petromastoid part of temporal bone|petrosal|petrosal bone|temporal bone petrous part|pars petrosa (os temporale)|petrous bone|pars petrosa ossis temporalis owl:Class CHEBI:63332 biolink:NamedThing EC 3.1.3.1 (alkaline phosphatase) inhibitor An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1). tmpak2llvmy_mondo_relaxed.owl EC 3.1.3.1 inhibitor|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitor|glycerophosphatase inhibitors|alkaline phenyl phosphatase inhibitor|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitor|EC 3.1.3.1 inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phosphomonoesterase inhibitors|alkaline phosphohydrolase inhibitor|alkaline phosphatase (EC 3.1.3.1) inhibitor|phosphomonoesterase inhibitors|alkaline phosphatase inhibitors|alkaline phosphatase inhibitor|alkaline phosphomonoesterase inhibitor|phosphomonoesterase inhibitor|alkaline phenyl phosphatase inhibitors|EC 3.1.3.1 (alkaline phosphatase) inhibitors|alkaline phosphatase (EC 3.1.3.1) inhibitors|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitors|glycerophosphatase inhibitor|alkaline phosphohydrolase inhibitors owl:Class CHEBI:76775 biolink:NamedThing EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*). tmpak2llvmy_mondo_relaxed.owl inhibitors of phosphoric monoester hydrolase|phosphoric monoester hydrolase inhibitor|EC 3.1.3.* inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|phosphoric monoester hydrolase inhibitors|inhibitor of phosphoric monoester hydrolase|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*)|inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors|EC 3.1.3.* inhibitors owl:Class MONDO:0009493 biolink:NamedThing Richards-Rundle syndrome Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. tmpak2llvmy_mondo_relaxed.owl ketoaciduria-mental deficiency syndrome|ketoaciduria - intellectual disability - ataxia - deafness|RICHARDS-RUNDLE syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|ataxia-deafness-retardation syndrome with ketoaciduria|familial ataxia-hypogonadism syndrome|Richards-Rundle syndrome|ataxia-deafness-intellectual disability syndrome|ataxia-deafness-mental retardation syndrome|RRNS ICD10:G60.2|MESH:C535674|UMLS:C0796136|GARD:0008423|Orphanet:1399|SCTID:715415005|OMIM:245100 owl:Class UBERON:0010364 biolink:NamedThing dermal skeleton Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. tmpak2llvmy_mondo_relaxed.owl exoskeleton|desmoskeleton|dermal skeletal system|dermoskeleton owl:Class MONDO:0007334 biolink:NamedThing autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. tmpak2llvmy_mondo_relaxed.owl popliteal pterygium syndrome|faciogenitopopliteal syndrome|PPS|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|popliteal web syndrome|facio-genito-popliteal syndrome|popliteal pterygium syndrome, autosomal dominant|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies Orphanet:1300|ICD10:Q87.2|GARD:0003242|SCTID:718222000|UMLS:CN199177|OMIM:119500 Editor note: check logical definition owl:Class MONDO:0017435 biolink:NamedThing popliteal pterygium syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. tmpak2llvmy_mondo_relaxed.owl PPS|facio-genito-popliteal syndrome DOID:0060055|UMLS:C0265259|MESH:C562509|NCIT:C118786|ICD9:756.89|SCTID:66783006|Orphanet:294963 Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas) owl:Class SO:0000159 biolink:NamedThing deletion The point at which one or more contiguous nucleotides were excised. tmpak2llvmy_mondo_relaxed.owl nucleotide_deletion|nucleotide deletion|deleted_sequence owl:Class MONDO:0006304 biolink:NamedThing minor salivary gland adenocarcinoma An adenocarcinoma that arises from the minor salivary glands. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland NCIT:C5948|EFO:1000379|UMLS:C1334768 owl:Class MONDO:0030707 biolink:NamedThing Trichomonas balanoposthitis tmpak2llvmy_mondo_relaxed.owl Trichomonas balanoposthitis NCIT:C35406|UMLS:C0341769 owl:Class HGNC:20297 biolink:NamedThing SLITRK1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002215 biolink:NamedThing synchondrosis Cartilaginous joint in which the articulating bones or cartilages are connected by hyaline cartilage. Examples: spheno-occipital synchondrosis, first sternocostal joint.[FMA] tmpak2llvmy_mondo_relaxed.owl epiphysial cartilage|primary cartilaginous joint|cartilago epiphysialis owl:Class MONDO:0022650 biolink:NamedThing cardiomyopathy diabetes deafness tmpak2llvmy_mondo_relaxed.owl GARD:0001103 https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness owl:Class CHEBI:47909 biolink:NamedThing 3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. tmpak2llvmy_mondo_relaxed.owl 3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|3-oxo-Delta(4) steroids|3-Oxo-delta4-steroid|a 3-oxo-Delta(4)-steroid owl:Class MONDO:0002027 biolink:NamedThing avoidant personality disorder A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. tmpak2llvmy_mondo_relaxed.owl anxious personality disorder ICD10:F60.6|NCIT:C92636|DOID:1509|SCTID:231528008|ICD9:301.82 owl:Class MONDO:0010157 biolink:NamedThing Tryptophanuria with dwarfism tmpak2llvmy_mondo_relaxed.owl Tryptophanuria with dwarfism UMLS:C0268473|SCTID:12045002|MESH:C562658|ICD9:259.4|GARD:0004268|OMIM:276100 https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism owl:Class MONDO:0019426 biolink:NamedThing X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. tmpak2llvmy_mondo_relaxed.owl X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis GARD:0012489|UMLS:CN206182|Orphanet:85330|ICD10:Q87.8 owl:Class MONDO:0003982 biolink:NamedThing bilateral breast carcinoma Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. tmpak2llvmy_mondo_relaxed.owl bilateral breast cancer|bilateral breast carcinoma UMLS:C0281267|NCIT:C8287|DOID:6741 owl:Class MONDO:0015921 biolink:NamedThing ARX-related epileptic encephalopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:182079 owl:Class HGNC:10274 biolink:NamedThing RP2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25389 biolink:NamedThing monohydroxybenzoic acid Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring. tmpak2llvmy_mondo_relaxed.owl monohydroxybenzoic acids owl:Class MONDO:0021131 biolink:NamedThing frontal lobe ependymal tumor An ependymal tumor affecting the frontal lobe of the brain. tmpak2llvmy_mondo_relaxed.owl frontal lobe ependymal tumor|ependymal tumor of frontal lobe UMLS:C4330009|NCIT:C131573 owl:Class UBERON:0006955 biolink:NamedThing uterine epithelium An epithelium that is part of a uterus. tmpak2llvmy_mondo_relaxed.owl uterus epithelium owl:Class MONDO:0008055 biolink:NamedThing myotonia congenita, autosomal dominant tmpak2llvmy_mondo_relaxed.owl congenital myotonia, autosomal dominant form|Thomsen and Becker disease|Thomsen disease|myotonia Levior|myotonia congenita, autosomal dominant|Thomsen's disease ICD9:359.29|OMIM:160800|SCTID:57938005 owl:Class MONDO:0006281 biolink:NamedThing lung signet ring cell carcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells. tmpak2llvmy_mondo_relaxed.owl lung signet ring cell carcinoma|signet ring lung adenocarcinoma EFO:1000338|DOID:0080305|NCIT:C45514|SCTID:707407001|ICD9:162.9 owl:Class MONDO:0014384 biolink:NamedThing hypotrichosis 12 Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. tmpak2llvmy_mondo_relaxed.owl HYPT12|hypotrichosis caused by mutation in RPL21|RPL21 hypotrichosis|hypt12|hypotrichosis 12|hypotrichosis type 12 DOID:0110709|UMLS:C4014563|OMIM:615885 owl:Class BFO:0000006 biolink:NamedThing spatial region tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020689 biolink:NamedThing AIDS dementia complex A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) tmpak2llvmy_mondo_relaxed.owl HIV 1 Associated Cognitive Motor Complex|AIDS RELAT DEMENTIA COMPLEX|Dementia associated with acquired immunodeficiency syndrome|HIV Encephalopathies|Acquired immune deficiency syndrome dementia complex|Dementia Complex, AIDS|HIV 1 Cognitive and Motor Complex|Dementia Complex, AIDS-related|Complex, AIDS-related Dementia|AIDS Dementia Complex|AIDS Encephalopathies|AIDS dementia complex|AIDS Encephalopathy|HIV Dementias|ADC|acquired immune deficiency syndrome-related dementia|HIV Encephalopathy|AIDS Dementia|Encephalopathy, HIV|AIDS - Acquired immune deficiency syndrome dementia complex|DEMENTIA COMPLEX AIDS RELAT|HIV ASSOC COGNITIVE MOTOR COMPLEX|Encephalopathies, AIDS|ADC - Acquired immune deficiency syndrome dementia complex|Acquired immune deficiency syndrome-related dementia|AIDS with dementia (disorder)|HIV-1 Cognitive and Motor Complex|AIDS-related Dementia Complex|HIV-associated dementia|AIDS dementia|Dementia associated with AIDS|HIV Associated Cognitive Motor Complex|Acquired-Immune Deficiency Syndrome Dementia Complex|Encephalopathies, HIV|Dementia Complex, AIDS related|Dementias, HIV|Dementia, HIV|HIV encephalitis|AIDS related Dementia Complex|Complex, AIDS Dementia|AIDS related cognitive impairment|HIV-1-Associated Cognitive Motor Complex|HIV Dementia|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|HIV-Associated Cognitive Motor Complex|Encephalopathy, AIDS|acquired immune deficiency syndrome dementia complex|HIV associated cognitive and motor complex|Dementia Complex, Acquired Immune Deficiency Syndrome SCTID:421529006|GARD:0008250|NCIT:C2864|UMLS:C0001849|EFO:0002608|ICD9:294.8|MESH:D015526 owl:Class UBERON:4000020 biolink:NamedThing mineralized extracellular matrix Extracellular matrix that is mineralized. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class GO:0060795 biolink:NamedThing cell fate commitment involved in formation of primary germ layer The commitment of cells to specific cell fates of the endoderm, ectoderm, or mesoderm as a part of gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045165 biolink:NamedThing cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015728 biolink:NamedThing distal trisomy 15q tmpak2llvmy_mondo_relaxed.owl distal duplication 15q|distal trisomy type 15q|trisomy 15qter|telomeric duplication 15q MESH:C538036|ICD10:Q92.3|Orphanet:1707 owl:Class MONDO:0018750 biolink:NamedThing class I glucose-6-phosphate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl Class I G6PD deficiency|hemolytic anemia due to G6PD deficiency|severe hemolytic anemia due to G6PD deficiency Orphanet:466026 owl:Class MONDO:0001217 biolink:NamedThing pseudomembranous conjunctivitis Conjunctivitis that is characterized by formation of a pseudomembrane. tmpak2llvmy_mondo_relaxed.owl conjunctivitis with pseudomembrane ICD9:372.04|GARD:0008446|UMLS:C0155144|SCTID:72115001|NCIT:C35196|DOID:11190|ICD10:H10.22 MONDO:0022856 https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane owl:Class CL:0000138 biolink:NamedThing chondrocyte Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. tmpak2llvmy_mondo_relaxed.owl cartilage cell CALOHA:TS-0138|BTO:0000249|FMA:66782 cell owl:Class CL:0000667 biolink:NamedThing collagen secreting cell An extracellular matrix secreting cell that secretes collagen. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:2000064 biolink:NamedThing ovarian surface epithelial cell Any epithelial cell that is part of a female gonad. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7310 TermGenie 2014-10-07T17:59:13Z cell owl:Class MONDO:0019036 biolink:NamedThing amoebiasis due to free-living amoebae Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. tmpak2llvmy_mondo_relaxed.owl Orphanet:68|ICD10:B60.1|UMLS:CN205519|ICD10:B60.2|GARD:0012650 https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae owl:Class UBERON:0006742 biolink:NamedThing canthus A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. tmpak2llvmy_mondo_relaxed.owl bicanthal plane|canthus (anatomy)|angle of eye|canthi|canthoplasty|canthorum|bicanthal|palpebral commissure|canthus of eye owl:Class GO:0007286 biolink:NamedThing spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl spermatid cell development|spermiogenesis owl:Class BFO:0000029 biolink:NamedThing site tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012762 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 2 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene. tmpak2llvmy_mondo_relaxed.owl CASQ2 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, stress-induced polymorphic|catecholaminergic polymorphic ventricular tachycardia type 2|CPVT2|CVPT2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|ventricular tachycardia, catecholaminergic polymorphic, 2|ventricular tachycardia, catecholaminergic polymorphic, type 2|catecholaminergic polymorphic ventricular tachycardia 2 OMIM:611938|ICD10:I47.2|NCIT:C148368|DOID:0060676|UMLS:C2677794 owl:Class MONDO:0003265 biolink:NamedThing adjustment disorder A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present. tmpak2llvmy_mondo_relaxed.owl adjustment disease|disorders, adjustment|disorder, adjustment|disorder, reactive|adaptation reaction|adjustment disorder|disorders, reactive|adjustment reaction ICD9:309.9|DOID:507|MESH:D000275|NCIT:C92191|ICD9:309.89|SCTID:17226007|ICD9:309 owl:Class MONDO:0017278 biolink:NamedThing autoimmune polyendocrinopathy A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. tmpak2llvmy_mondo_relaxed.owl Lloyd's syndrome|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyendocrinopathy|APS|autoimmune polyglandular syndrome(s)|autoimmune polyendocrinopathy syndrome|autoimmune polyglandular failure|autoimmune polyendocrine syndrome|autoimmune polyglandular syndrome Orphanet:282196|NCIT:C129726|ICD10:E31.0|UMLS:C0085409|SCTID:41864002|UMLS:C4316913|ICD9:258.8|NCIT:C84576|DOID:14040 owl:Class MONDO:0017333 biolink:NamedThing hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism tmpak2llvmy_mondo_relaxed.owl Pol III-related leukodystrophy 2022-03-01 Orphanet:289494|UMLS:CN168056 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: leukodystrophy MONDO_0019046 owl:Class MONDO:0009943 biolink:NamedThing Pyle disease Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. tmpak2llvmy_mondo_relaxed.owl Pyle-Cohn syndrome|metaphyseal dysplasia|Pyl|Pyle's disease|metaphyseal dysplasia, Pyle type|Pyle's syndrome|chondrodysplasia calcificans metaphysealis|Bakwin-Krida syndrome|metaphyseal dysplasia Pyle type|Pyle disease SCTID:27837003|MESH:C536252|ICD10:Q78.5|ICD9:758.5|DOID:0080019|Orphanet:3005|OMIM:265900|GARD:0004612 owl:Class GO:0045835 biolink:NamedThing negative regulation of meiotic nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis. tmpak2llvmy_mondo_relaxed.owl negative regulation of meiosis|downregulation of meiosis|inhibition of meiosis|down regulation of meiosis|down-regulation of meiosis owl:Class UBERON:0002497 biolink:NamedThing acromion Region of the scapula where the latter meets with the clavicle: attachment point of the clavicle to the scapula in some taxa. tmpak2llvmy_mondo_relaxed.owl acromion of scapula|scapular acromion|acromion of the scapula|acromion process owl:Class GO:2000855 biolink:NamedThing regulation of mineralocorticoid secretion Any process that modulates the frequency, rate or extent of mineralocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009533 biolink:NamedThing Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. tmpak2llvmy_mondo_relaxed.owl Dahlberg Borer Newcomer syndrome|hypoparathyroidism lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|Dahlberg syndrome|lymphedema hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome ICD10:Q87.8|SCTID:721083007|MESH:C535769|UMLS:C1855477|Orphanet:1563|OMIM:247410|GARD:0000237 https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome owl:Class CHEBI:23976 biolink:NamedThing ethanediol Any diol that is ethane or substituted ethane carrying two hydroxy groups. tmpak2llvmy_mondo_relaxed.owl ethanediols owl:Class MONDO:0014226 biolink:NamedThing idiopathic CD4 lymphocytopenia Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. tmpak2llvmy_mondo_relaxed.owl IMD13|immunodeficiency 13|ICL|idiopathic Cd4 lymphopenia|immunodeficiency type 13|idiopathic CD4 positive T-lymphocytopenia ICD10:D72.8|Orphanet:228000|GARD:0012375|UMLS:C3809768|OMIM:615518|SCTID:763713000 owl:Class UBERON:0010341 biolink:NamedThing 1st arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl mesenchyme derived from head mesoderm of mesenchyme of 1st arch owl:Class MONDO:0006546 biolink:NamedThing erythematosquamous dermatosis A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. tmpak2llvmy_mondo_relaxed.owl Other erythematosquamous dermatosis|erythematosquamous dermatosis DOID:9097|EFO:1000695|NCIT:C34591|ICD9:690.8|UMLS:C0014747|ICD9:690|SCTID:54792008 owl:Class GO:0098936 biolink:NamedThing intrinsic component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to postsynaptic membrane owl:Class HGNC:7873 biolink:NamedThing NOS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140112 biolink:NamedThing extracellular vesicle biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. tmpak2llvmy_mondo_relaxed.owl extracellular vesicle assembly owl:Class GO:0044085 biolink:NamedThing cellular component biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. tmpak2llvmy_mondo_relaxed.owl cellular component biogenesis at cellular level owl:Class MONDO:0002900 biolink:NamedThing cerebral neuroblastoma A neuroblastoma arising from the cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl neuroblastoma of brain|neuroblastoma of the cerebrum|cerebral hemispheric neuroblastoma|neuroblastoma of the cerebral hemisphere|neuroblastoma of the cerebral hemispheres|central nervous system neuroblastoma|cerebral neuroblastoma, PNET|neuroblastoma of cerebral hemispheres|cerebral neuroblastoma|telencephalon neuroblastoma|neuroblastoma of cerebrum|neuroblastoma of telencephalon NCIT:C4826|SCTID:281560004|UMLS:C0559458|DOID:4164 owl:Class MONDO:0005451 biolink:NamedThing eating disorder A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. tmpak2llvmy_mondo_relaxed.owl feeding and eating disorder|eating disorder ICD9:307.50|NCIT:C89332|EFO:0005203|SCTID:72366004|ICD10:F50|ICD9:307.59|ICD10:F50.9|DOID:8670 owl:Class MONDO:0022775 biolink:NamedThing cleft lip and palate malrotation cardiopathy tmpak2llvmy_mondo_relaxed.owl GARD:0001371 https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy owl:Class GO:0033006 biolink:NamedThing regulation of mast cell activation involved in immune response Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. tmpak2llvmy_mondo_relaxed.owl regulation of mast cell activation during immune response owl:Class FOODON:00002655 biolink:NamedThing food (peeled) tmpak2llvmy_mondo_relaxed.owl peeled 2019-05-25 06:43:20+00:00 Damion Dooley owl:Class FOODON:00002645 biolink:NamedThing food product by process A food product organized by the process which it results from. tmpak2llvmy_mondo_relaxed.owl 2019-05-23 23:02:07+00:00 Damion Dooley owl:Class MONDO:0021902 biolink:NamedThing aortopulmonary window A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl APSD|AP window|APW|aorto-pulmonary window|aortic-pulmonary window|aortopulmonary window|aortopulmonary septal defect GARD:0000745|NCIT:C101050|HP:0011604|MESH:D001028|SCTID:17024001 Editor note: NCIT treats as disease but consider obsoleting in favor og HP https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window owl:Class MONDO:0001757 biolink:NamedThing frontal sinus neoplasm A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl tumor of the frontal sinus|neoplasm of the frontal sinus|frontal sinus tumor|neoplasm of frontal sinus|frontal sinus neoplasm (disease)|tumor of frontal sinus NCIT:C4419|UMLS:C0345672|DOID:1361|SCTID:126678005 MONDO:0021214 owl:Class UBERON:0011814 biolink:NamedThing non-neurogenic ectodermal placode Ectodermal placode that does not develop into a component of the nervous system. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4539 biolink:NamedThing GPR88 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012093 biolink:NamedThing prostate cancer, hereditary, 3 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 3|HPC3|prostate cancer, hereditary, 3 OMIM:608656|UMLS:C1837595|MESH:C563883 owl:Class HP:0003674 biolink:NamedThing Onset The age group in which disease manifestations appear. tmpak2llvmy_mondo_relaxed.owl Age symptoms begin|Age of onset MSH:D017668|UMLS:C0206132 Adolescent is defined by WHO as a person between 10-19 years of age. HP:0003630|HP:0003628|HP:0003668|HP:0003626|HP:0003590|HP:0003597|HP:0003603|HP:0011007|HP:0003663|HP:0003618|HP:0003588|HP:0003664|HP:0003602 human_phenotype owl:Class MONDO:0023002 biolink:NamedThing double discordia tmpak2llvmy_mondo_relaxed.owl corrected transposition|atrio-ventricular and ventriculo-arterial double Discordia GARD:0001905 https://rarediseases.info.nih.gov/diseases/1905/double-discordia owl:Class MONDO:0005623 biolink:NamedThing autoimmune thyroid disease Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. tmpak2llvmy_mondo_relaxed.owl autoimmune thyroiditis|thyroiditides, lymphocytic|thyroiditis, lymphocytic|autoimmune thyroid gland inflammation|thyroiditides, autoimmune|lymphomatous thyroiditides|thyroiditis, lymphomatous|thyroiditides, lymphomatous|lymphocytic thyroiditides|autoimmune thyroiditides|lymphomatous thyroiditis|lymphocytic thyroiditis MESH:D013967|Wikipedia:Autoimmune_thyroiditis|GARD:0006945|EFO:0006812 Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) owl:Class MONDO:0010877 biolink:NamedThing Charcot-Marie-Tooth disease type 5 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. tmpak2llvmy_mondo_relaxed.owl hereditary motor and sensory neuropathy with pyramidal features|HMSN5|hereditary motor and sensory neuropathy 5|hereditary motor and sensory neuropathy type 5|CMT with pyramidal features|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN 5|Charcot-Marie-Tooth disease-pyramidal features syndrome|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant|peroneal muscular atrophy with pyramidal features, autosomal dominant Orphanet:64751|DOID:0080067|UMLS:CN074211|GARD:0009208|OMIM:600361|SCTID:76043009|ICD10:G60.0 owl:Class MONDO:0015934 biolink:NamedThing non-syndromic urogenital tract malformation of male and female tmpak2llvmy_mondo_relaxed.owl nonsyndromic urogenital tract malformation of male and female|isolated urogenital tract malformation of male and female Orphanet:182124 Editor note: consider obsoleting as semantics not clear owl:Class MONDO:0015619 biolink:NamedThing non-syndromic urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated urogenital tract malformation|nonsyndromic urogenital tract malformation Orphanet:165704 owl:Class MONDO:0018369 biolink:NamedThing immature ovarian teratoma A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. tmpak2llvmy_mondo_relaxed.owl malignant germ cell teratoma of ovary|ovary malignant teratoma|malignant teratoma of ovary|ovarian malignant teratoma|immature teratoma of the ovary|malignant ovarian teratoma|ovarian immature germ cell teratoma|malignant ovarian germ cell teratoma|immature germ cell teratoma of the ovary|ovarian immature teratoma|ovarian germ cell immature teratoma|immature teratoma|malignant teratoma of the ovary|immature teratoma of ovary|immature germ cell teratoma of ovary|immature ovarian teratoma|malignant germ cell teratoma of the ovary UMLS:CN205036|NCIT:C8111|UMLS:C0346182|ONCOTREE:OIMT|ICD10:C56|SCTID:254871000|DOID:6331|Orphanet:398987 owl:Class MONDO:0003821 biolink:NamedThing ovarian biphasic or triphasic teratoma A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. tmpak2llvmy_mondo_relaxed.owl ovarian biphasic or triphasic teratoma DOID:6232|NCIT:C39992|UMLS:C1518691 owl:Class GO:0106014 biolink:NamedThing regulation of inflammatory response to wounding Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006636 biolink:NamedThing Actinobacillus infectious disease Infections with bacteria of the genus actinobacillus. tmpak2llvmy_mondo_relaxed.owl infections, Actinobacillus|Actinobacillus infection|Actinobacillus caused disease or disorder|Actinobacillus disease or disorder|infection, Actinobacillus EFO:1000793|MESH:D000189 owl:Class MONDO:0001403 biolink:NamedThing labium majus cancer A malignant neoplasm involving the labium majora. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of labium majora|malignant labia majora neoplasm|malignant tumor of labia majora|malignant tumor of the labia majora|malignant labium majora neoplasm|cancer of labium majora|malignant labia majora tumor|labium majora cancer|malignant neoplasm of labia majora|malignant neoplasm of the labia majora SCTID:363446004|DOID:11905|NCIT:C7638|UMLS:C0496814|ICD10:C51.0|ICD9:184.1 owl:Class MONDO:0019859 biolink:NamedThing congenital thyroid malformation without hypothyroidism tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:95718|ICD10:Q89.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: thyroid gland disease' MONDO_0003240 owl:Class MONDO:0020538 biolink:NamedThing malignant dysgerminomatous germ cell tumor of ovary Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. tmpak2llvmy_mondo_relaxed.owl dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary|malignant ovarian dysgerminoma ICD10:C56|Orphanet:99912|UMLS:CN207439 owl:Class MONDO:0018171 biolink:NamedThing malignant germ cell tumor of ovary Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. tmpak2llvmy_mondo_relaxed.owl ovary malignant germ cell tumor|malignant germ cell tumor of the ovary|malignant germ cell tumor of ovary|malignant ovarian germ cell tumor|malignant germ cell neoplasm of the ovary|ovarian germ cell cancer|MOGCT|malignant germ cell neoplasm of ovary|malignant ovarian germ cell neoplasm SCTID:254869000|ICD10:C56|Orphanet:35807|DOID:2155|NCIT:C4514|UMLS:C0346180 owl:Class UBERON:0010129 biolink:NamedThing femur cartilage element A femur endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl femoral cartilage condensation owl:Class MONDO:0019537 biolink:NamedThing hemoglobin D disease Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). tmpak2llvmy_mondo_relaxed.owl hemoglobin D disease|Hb-D disease NCIT:C35344|Orphanet:90039|SCTID:66729008|DOID:5378|ICD9:282.7|MedDRA:10055019|ICD10:D58.2|UMLS:C0272080 owl:Class CL:0000174 biolink:NamedThing steroid hormone secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0019186 biolink:NamedThing Q fever A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. tmpak2llvmy_mondo_relaxed.owl Coxiellosis|Q fever pneumonia|query fever|Coxiella burnetii infectious disease|infection due to Coxiella burnetii|quadrilateral fever|nine Mile fever|Coxiella burnetii caused disease or disorder|Coxiella burnetii disease or disorder|Coxiella burnetii fever DOID:11100|GARD:0007515|ICD9:083.0|Orphanet:781|EFO:0005224|SCTID:186788009|MedDRA:10037688|MedDRA:10037731|NCIT:C34970|UMLS:C0034362|ICD10:A78|MESH:D011778 https://rarediseases.info.nih.gov/diseases/7515/q-fever owl:Class MONDO:0003747 biolink:NamedThing telangiectatic glomangioma A glomus tumor characterized by huge vascular channel formations. tmpak2llvmy_mondo_relaxed.owl telangiectatic glomangioma NCIT:C5345|UMLS:C1336699|DOID:6048 owl:Class MONDO:0002298 biolink:NamedThing cutaneous glomangioma A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. tmpak2llvmy_mondo_relaxed.owl cutaneous glomangioma|glomangioma of skin|glomangioma of the skin|zone of skin glomangioma|skin glomangioma UMLS:C1275226|NCIT:C6750|SCTID:403970001|DOID:2435 owl:Class HGNC:9652 biolink:NamedThing PTPN22 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009350 biolink:NamedThing Holzgreve-Wagner-Rehder syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. tmpak2llvmy_mondo_relaxed.owl cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome|Holzgreve Wagner Rehder syndrome|Complex congenital heart defect, renal agenesis and cleft lip and palate|Holzgreve syndrome Orphanet:2167|UMLS:C1856095|OMIM:236110|GARD:0002728|ICD10:Q87.8|DOID:0060566|MESH:C535327 owl:Class MONDO:0000993 biolink:NamedThing prostate squamous cell carcinoma An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation. tmpak2llvmy_mondo_relaxed.owl prostate squamous cell carcinoma|PRSC|squamous cell carcinoma of prostate|prostate gland squamous cell carcinoma|squamous cell carcinoma of the prostate ONCOTREE:PRSC|DOID:10287|SCTID:399590005|NCIT:C5536|UMLS:C1302530 owl:Class OBO:CHR_9606-chr7p22 biolink:NamedThing chr7p22 (Human) tmpak2llvmy_mondo_relaxed.owl 7200000 0 hg38 owl:Class UBERON:0010538 biolink:NamedThing paired limb/fin segment An appendage segment that is part of a limb/fin. tmpak2llvmy_mondo_relaxed.owl limb/fin segment owl:Class MONDO:0009685 biolink:NamedThing Miyoshi myopathy A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, distal, late onset, autosomal recessive|Miyoshi muscular dystrophy type 1|Miyoshi distal myopathy|MM|Miyoshi muscular dystrophy|MMD1|Miyoshi muscular dystrophy 1 GARD:0009676|ICD10:G71.0|OMIMPS:254130|DOID:0070198|MESH:C537480|Orphanet:45448|NCIT:C118846 owl:Class MONDO:0100015 biolink:NamedThing adult-onset segmental dystonia tmpak2llvmy_mondo_relaxed.owl an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).|DYT-GNAL 2018-05-25 20:41:39+00:00 owl:Class MONDO:0012056 biolink:NamedThing Leber congenital amaurosis 9 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis type 9|LCA9|Leber congenital amaurosis caused by mutation in NMNAT1|NMNAT1 Leber congenital amaurosis|Leber congenital amaurosis 9|amaurosis congenita of Leber, type 9 GARD:0009491|DOID:0110005|OMIM:608553|MESH:C536603|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9 owl:Class HP:0000113 biolink:NamedThing Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. tmpak2llvmy_mondo_relaxed.owl Polycystic kidney disease|Enlarged polycystic kidneys|Polycystic kidneys Fyler:4508|SNOMEDCT_US:82525005|MSH:D007690|UMLS:C1567435|UMLS:C0022680 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HP:0008673|HP:0008645|HP:0004716|HP:0008699|HP:0004740|HP:0004739 human_phenotype owl:Class HP:0000107 biolink:NamedThing Renal cyst A fluid filled sac in the kidney. tmpak2llvmy_mondo_relaxed.owl Cystic kidney disease|Kidney cyst|Cystic kidneys|Renal cysts UMLS:C0022679|MSH:D052177|UMLS:C3887499 HP:0000109|HP:0000088 human_phenotype owl:Class GO:0030262 biolink:NamedThing apoptotic nuclear changes Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. tmpak2llvmy_mondo_relaxed.owl apoptotic nuclear change owl:Class GO:0006921 biolink:NamedThing cellular component disassembly involved in execution phase of apoptosis The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. tmpak2llvmy_mondo_relaxed.owl cellular component disassembly involved in apoptosis|disassembly of cell structures|cellular component disassembly involved in apoptotic process owl:Class GO:0099177 biolink:NamedThing regulation of trans-synaptic signaling Any process that modulates the frequency, rate or extent of trans-synaptic signaling. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010123 biolink:NamedThing absent thumb-short stature-immunodeficiency syndrome Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. tmpak2llvmy_mondo_relaxed.owl thumb agenesis, short stature, and immunodeficiency MESH:C564770|UMLS:C1848818|OMIM:274190|ICD10:D82.8|Orphanet:2951 owl:Class MONDO:0016934 biolink:NamedThing partial duplication of chromosome 16 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 16|partial duplication of chromosome type 16 SCTID:726355001|Orphanet:262672 owl:Class MONDO:0011087 biolink:NamedThing inflammatory bowel disease 2 An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 2|inflammatory bowel disease type 2|IBD2 OMIM:601458|DOID:0110900|MESH:C563310|UMLS:C1832321 owl:Class MONDO:0020989 biolink:NamedThing hereditary persistence of fetal hemoglobin The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. tmpak2llvmy_mondo_relaxed.owl hereditary persistence of fetal hemoglobin|Hb F disease|Disease, Hemoglobin F|Hereditary persistence of fetal hemoglobin|HPFH - Hereditary persistence of fetal hemoglobin|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|HEMOGLOBIN F DIS|Hereditary Persistence of Fetal Hemoglobin|Hemoglobin F Disease UMLS:C0019025|ICD9:282.7|NCIT:C129072|SCTID:191201002 owl:Class GO:0004092 biolink:NamedThing carnitine O-acetyltransferase activity Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. tmpak2llvmy_mondo_relaxed.owl carnitine acetylase activity|carnitine O-acetyltransferase II activity|acetylcarnitine transferase activity|carnitine acetyltransferase activity|acetyl-CoA-carnitine O-acetyltransferase activity|CATC|carnitine-acetyl-CoA transferase activity|carnitine O-acetyltransferase I activity|carnitine acetyl coenzyme A transferase activity|acetyl-CoA:carnitine O-acetyltransferase activity owl:Class GO:0016406 biolink:NamedThing carnitine O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013151 biolink:NamedThing choroidal artery One of two arteries (anterior and posterior choroidal artery) that supply blood to the choroid plexus, optic tract, hippocampus, globus pallidus, and other various brain regions. tmpak2llvmy_mondo_relaxed.owl choroid artery|artery of choroid plexus owl:Class MONDO:0012033 biolink:NamedThing bradyopsia Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. tmpak2llvmy_mondo_relaxed.owl prolonged electroretinal response suppression|PERRS|bradyopsia ICD10:H53.8|ICD9:368.8|MESH:C564243|DOID:0050335|GARD:0012299|OMIM:608415|SCTID:711163009|Orphanet:75374 https://rarediseases.info.nih.gov/diseases/12299/bradyopsia owl:Class MONDO:0020238 biolink:NamedThing inherited vitreous-retinal disease tmpak2llvmy_mondo_relaxed.owl genetic vitreous-retinal disease|genetic vitreoretinal disease Orphanet:98657|UMLS:CN207063 owl:Class MONDO:0012732 biolink:NamedThing tremor, hereditary essential, and idiopathic normal pressure hydrocephalus tmpak2llvmy_mondo_relaxed.owl ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus UMLS:C2678494|MESH:C567519|OMIM:611808 owl:Class MONDO:0017936 biolink:NamedThing benign Samaritan congenital myopathy Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. tmpak2llvmy_mondo_relaxed.owl ICD10:G71.2|Orphanet:324581 owl:Class MONDO:0021172 biolink:NamedThing Timothy syndrome type 2 (disorder) Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. tmpak2llvmy_mondo_relaxed.owl Timothy syndrome, atypical type UMLS:C4304347|SCTID:719907006 owl:Class MONDO:0015088 biolink:NamedThing autosomal dominant pure spastic paraplegia Autosomal dominant form of pure hereditary spastic paraplegia. tmpak2llvmy_mondo_relaxed.owl autosomal dominant uncomplicated HSP|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure HSP|autosomal dominant uncomplicated SPG|autosomal dominant pure SPG|autosomal dominant pure hereditary spastic paraplegia|pure hereditary spastic paraplegia, autosomal dominant ICD10:G11.4|Orphanet:100980|UMLS:CN226594 owl:Class MONDO:0016549 biolink:NamedThing primary megaureter, adult-onset form tmpak2llvmy_mondo_relaxed.owl Orphanet:238642|UMLS:CN201632|ICD10:Q62.2 owl:Class MONDO:0018960 biolink:NamedThing congenital primary megaureter Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. tmpak2llvmy_mondo_relaxed.owl congenital primary megalo-ureter|CGM|congenital megalo-ureter|congenital giant megaureter ICD10:Q62.2|GARD:0000219|GARD:0001492|SCTID:717459000|Orphanet:617 https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter|https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter owl:Class MONDO:0001459 biolink:NamedThing radial neuropathy Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. tmpak2llvmy_mondo_relaxed.owl peripheral neuropathy of radial nerve|radial nerve peripheral neuropathy MESH:D020425|DOID:12171|SCTID:16644004|UMLS:C0748226 owl:Class UBERON:0019304 biolink:NamedThing sensory organ epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007136 biolink:NamedThing genetic anorectal anomalies tmpak2llvmy_mondo_relaxed.owl anorectal anomalies OMIM:107100|MESH:C567938 owl:Class GO:0048240 biolink:NamedThing sperm capacitation A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. tmpak2llvmy_mondo_relaxed.owl sperm activation owl:Class MONDO:0004259 biolink:NamedThing endocervical carcinoma A carcinoma that arises from epithelial cells of the endocervix. tmpak2llvmy_mondo_relaxed.owl endocervix carcinoma|endocervical cancer|endocervical carcinoma|carcinoma of the endocervix|endocervical adenocarcinoma|carcinoma of endocervix NCIT:C28327|UMLS:C1299237|DOID:7519|SCTID:372098004 owl:Class MONDO:0017939 biolink:NamedThing classic multiminicore myopathy tmpak2llvmy_mondo_relaxed.owl classic MmD|classic multiminicore disease UMLS:CN204085|Orphanet:324604|ICD10:G71.2 owl:Class MONDO:0013837 biolink:NamedThing deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. tmpak2llvmy_mondo_relaxed.owl COQ10D2|coenzyme Q10 deficiency, primary, type 2|hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|coenzyme Q10 deficiency, primary, 2 OMIM:614651|UMLS:C3553354|DOID:0070239|ICD10:E88.8|Orphanet:254898 owl:Class MONDO:0014504 biolink:NamedThing Perrault syndrome 5 Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene. tmpak2llvmy_mondo_relaxed.owl Perrault syndrome caused by mutation in TWNK|TWNK Perrault syndrome|PRLTS5|Perrault syndrome type 5|Perrault syndrome 5 UMLS:C4015307|OMIM:616138 owl:Class MONDO:0017312 biolink:NamedThing Perrault syndrome Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Perrault syndrome|gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome OMIMPS:233400|DOID:0050857|UMLS:C0685838|SCTID:93466004|ICD10:Q87.8|Orphanet:2855|GARD:0002542|UMLS:CN239459 owl:Class UBERON:0000457 biolink:NamedThing cavernous artery Any of several small branches of the internal carotid artery that supply the trigeminal ganglion and the walls of the cavernous and petrosal sinuses. tmpak2llvmy_mondo_relaxed.owl cavernous branch of cavernous part of internal carotid artery|ramus sinus cavernosi (pars cavernosa) (arteria carotis interna) owl:Class MONDO:0011330 biolink:NamedThing spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. tmpak2llvmy_mondo_relaxed.owl SCA10|spinocerebellar ataxia type 10|spinocerebellar ataxia 10 DOID:0050960|MESH:C566874|OMIM:603516|UMLS:C4275023|ICD10:G11.2|GARD:0010474|UMLS:C1963674|SCTID:715754007|Orphanet:98761 owl:Class MONDO:0017510 biolink:NamedThing adactyly of foot, bilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of toes, bilateral ICD10:Q72.8|Orphanet:295118 owl:Class MONDO:0018563 biolink:NamedThing adactyly of foot tmpak2llvmy_mondo_relaxed.owl congenital absence of toes ICD10:Q72.8|SCTID:66345008|Orphanet:435623 owl:Class MONDO:0003318 biolink:NamedThing mixed cell type kidney Wilms' tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). tmpak2llvmy_mondo_relaxed.owl mixed cell type renal Wilms' tumor|mixed cell type renal Wilms tumor|mixed cell type renal adenosarcoma|Mixed cell type Wilms tumor|mixed cell type kidney adenosarcoma|mixed cell type kidney Wilms tumor|mixed cell type renal Wilm's tumor|mixed cell type nephroblastoma NCIT:C9149|DOID:5179|UMLS:C0279611 owl:Class MONDO:0014221 biolink:NamedThing triosephosphate isomerase deficiency Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. tmpak2llvmy_mondo_relaxed.owl TPID|triosephosphate isomerase deficiency|TPI deficiency|triose phosphate-isomerase deficiency MESH:C566029|NCIT:C131652|ICD9:282.3|Orphanet:868|GARD:0005287|ICD10:D55.2|DOID:0050884|OMIM:615512|SCTID:234405009|UMLS:C1860808 https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency owl:Class UBERON:0002610 biolink:NamedThing cochlear nuclear complex The cochlear nuclei consist of: (a) the dorsal cochlear nucleus, corresponding to the tuberculum acusticum on the dorso-lateral surface of the inferior peduncle; and (b) the ventral or accessory cochlear nucleus, placed between the two divisions of the nerve, on the ventral aspect of the inferior peduncle. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl cochlear nuclei|nuclei cochleares owl:Class UBERON:0010701 biolink:NamedThing phalanx cartilage element tmpak2llvmy_mondo_relaxed.owl phalanx cartilage condensation owl:Class HP:0032169 biolink:NamedThing Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. tmpak2llvmy_mondo_relaxed.owl Unusual course of infection 2018-12-16 15:11:20+00:00 peter human_phenotype owl:Class MONDO:0009709 biolink:NamedThing myopathy, centronuclear, 2 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. tmpak2llvmy_mondo_relaxed.owl CNM2|myopathy, centronuclear, 2|centronuclear myopathy caused by mutation in BIN1|BIN1 centronuclear myopathy|myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|myopathy, centronuclear, type 2 MESH:C562934|DOID:0111220|OMIM:255200 owl:Class MONDO:0018947 biolink:NamedThing centronuclear myopathy Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. tmpak2llvmy_mondo_relaxed.owl centronuclear myopathy|myotubular myopathy|CNM|myopathy, centronuclear|myopathy, myotubular UMLS:C0175709|ICD10:G71.2|OMIMPS:160150|DOID:14717|GARD:0000101|Orphanet:595|SCTID:82077006 https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy owl:Class MONDO:0011496 biolink:NamedThing mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. tmpak2llvmy_mondo_relaxed.owl Namaqualand hip dysplasia|osteoarthritis with mild chondrodysplasia|OSCDP ICD9:755.63|MESH:C565740|UMLS:C1858079|ICD10:Q77.7|OMIM:604864|Orphanet:93279|SCTID:254064009 owl:Class MONDO:0020741 biolink:NamedThing pyridoxine-dependent epilepsy caused by ALDH7A1 mutant tmpak2llvmy_mondo_relaxed.owl pyridoxine-dependent epilepsy|pyridoxine dependency with seizures|Epd|pyridoxine-dependent epilepsy caused by ALDH7A1 mutant|EPD|epilepsy, pyridoxine-dependent|AASA dehydrogenase deficiency OMIM:266100 owl:Class MONDO:0009945 biolink:NamedThing pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). tmpak2llvmy_mondo_relaxed.owl pyridoxine dependency with seizures|Epd|vitamin B6-dependent seizures|EPD|epilepsy, pyridoxine-dependent|AASA dehydrogenase deficiency|pyridoxine dependency|pyridoxine-dependent epilepsy|antiquitin deficiency GARD:0009298|ICD10:G40.8|UMLS:CN203406|MESH:C536254|Orphanet:3006|UMLS:C1849508|SCTID:734434007 https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy owl:Class HGNC:10664 biolink:NamedThing CWC27 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013776 biolink:NamedThing spastic ataxia 5 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. tmpak2llvmy_mondo_relaxed.owl spastic ataxia type 5|autosomal recessive spastic ataxia type 5|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|autosomal recessive spastic ataxia caused by mutation in AFG3L2|SPAX5|AFG3L2 autosomal recessive spastic ataxia|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome|AFG3L2-related spastic ataxia-neuropathy syndrome|spastic ataxia 5, autosomal recessive DOID:0050944|OMIM:614487|Orphanet:313772|UMLS:C3280977|ICD10:G11.4 owl:Class HGNC:1395 biolink:NamedThing CACNA1H tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018617 biolink:NamedThing baroreflex failure Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. tmpak2llvmy_mondo_relaxed.owl GARD:0010664|ICD10:G90.4|UMLS:CN237655|Orphanet:443084 https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure owl:Class MONDO:0001064 biolink:NamedThing acute eustachian salpingitis Acute form of otosalpingitis. tmpak2llvmy_mondo_relaxed.owl acute otosalpingitis|acute eustachian tube salpingitis|otosalpingitis, acute UMLS:C0155429|ICD10:H68.019|ICD9:381.51|ICD10:H68.01|DOID:10550|SCTID:194268005 owl:Class GO:1905278 biolink:NamedThing positive regulation of epithelial tube formation Any process that activates or increases the frequency, rate or extent of epithelial tube formation. tmpak2llvmy_mondo_relaxed.owl activation of epithelial tube formation|up-regulation of epithelial tube formation|up regulation of epithelial tube formation|upregulation of epithelial tube formation owl:Class MONDO:0006920 biolink:NamedThing prediabetes syndrome A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. tmpak2llvmy_mondo_relaxed.owl prediabetes|borderline diabetes|prediabetic state UMLS:C0362046|EFO:1001121|DOID:11716|MedDRA:10065542|ICD10:R73.09|MESH:D011236|NCIT:C122685 owl:Class CHEBI:33457 biolink:NamedThing phosphorus oxoacid A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. tmpak2llvmy_mondo_relaxed.owl Oxosaeure des Phosphors|phosphorus oxoacids|phosphorus oxoacid|oxoacids of phosphorus owl:Class HP:0010914 biolink:NamedThing Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormality of valine metabolism UMLS:C4023656 peter 2010-12-08T08:51:14Z human_phenotype owl:Class HGNC:5147 biolink:NamedThing HPD tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905038 biolink:NamedThing regulation of membrane lipid metabolic process Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of membrane lipid metabolism owl:Class GO:0001964 biolink:NamedThing startle response An action or movement due to the application of a sudden unexpected stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050905 biolink:NamedThing neuromuscular process Any process pertaining to the functions of the nervous and muscular systems of an organism. tmpak2llvmy_mondo_relaxed.owl neuromuscular physiological process|neuromotor process owl:Class GO:0060688 biolink:NamedThing regulation of morphogenesis of a branching structure Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03420155 biolink:NamedThing obsolete: seed (anatomical part) The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran). tmpak2llvmy_mondo_relaxed.owl seed True owl:Class MONDO:0015306 biolink:NamedThing Lemierre syndrome Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. tmpak2llvmy_mondo_relaxed.owl necrobacillosis|acute sore throat|septic phlebitis of the internal jugular vein|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|Lemierre's syndrome|Lemierre postanginal sepsis|postanginal sepsis|human necrobacillosis|Lemierre syndrome|postanginal sepsis secondary to orophyngeal infection ICD9:040.3|SCTID:52542005|GARD:0006882|DOID:11337|MESH:D057831|ICD10:I80.8|MedDRA:10065552|Orphanet:137839 https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome owl:Class MONDO:0032855 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES|NEDDFSA OMIM:618659 owl:Class MONDO:0000923 biolink:NamedThing interstitial emphysema Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. tmpak2llvmy_mondo_relaxed.owl interstitial emphysema of lung|pie|pulmonary interstitial emphysema SCTID:77690003|UMLS:C1370824|ICD10:J98.2|DOID:10030|NCIT:C34571|ICD9:518.1 owl:Class MONDO:0010390 biolink:NamedThing ocular albinism with late-onset sensorineural deafness Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. tmpak2llvmy_mondo_relaxed.owl albinism, ocular, with late-onset sensorineural deafness|OASD|deafness and ocular albinism|ocular albinism with sensorineural deafness|albinism ocular late onset sensorineural deafness OMIM:300650|GARD:0000592|ICD10:E70.3|Orphanet:1000|SCTID:722054007|UMLS:C1845069 owl:Class MONDO:0000469 biolink:NamedThing sinoatrial node disease A disease involving the sinoatrial node. tmpak2llvmy_mondo_relaxed.owl sinuatrial node|sinoatrial node disease|SA node|disease of sinoatrial node|disease or disorder of sinoatrial node|sinoatrial node disease or disorder|disorder of sinoatrial node DOID:0050824 owl:Class MONDO:0005449 biolink:NamedThing conduction system disorder A disease involving the conducting system of heart. tmpak2llvmy_mondo_relaxed.owl disorder of conducting system of heart|conducting system of heart disease or disorder|disease of conducting system of heart|conducting system of heart disease|disease or disorder of conducting system of heart EFO:0005137 owl:Class GO:0045670 biolink:NamedThing regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007184 biolink:NamedThing alopecia, androgenetic, 1 tmpak2llvmy_mondo_relaxed.owl AGA1|baldness, Male pattern|alopecia, androgenetic, 1 OMIM:109200 owl:Class MONDO:0019031 biolink:NamedThing thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. tmpak2llvmy_mondo_relaxed.owl XDAT|congenital dyserythropoietic anemia with thombocytopenia|X-linked congenital dyserythropoietic anemia with thrombocytopenia SCTID:722475006|ICD10:D69.4|UMLS:C4302508|Orphanet:67044 owl:Class MONDO:0013713 biolink:NamedThing dengue virus, susceptibility to tmpak2llvmy_mondo_relaxed.owl susceptibility to dengue virus|dengue virus, susceptibility to|Dengue fever, susceptibility to|Dengue fever, protection against|Dengue shock syndrome, susceptibility to|Dengue hemorrhagic fever, susceptibility to OMIM:614371 owl:Class MONDO:0014136 biolink:NamedThing pulmonary hypertension, primary, 4 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. tmpak2llvmy_mondo_relaxed.owl primary pulmonary hypertension caused by mutation in KCNK3|PPH4|pulmonary hypertension, primary, type 4|pulmonary hypertension, primary, 4|KCNK3 primary pulmonary hypertension UMLS:C3809198|OMIM:615344 owl:Class MONDO:0025130 biolink:NamedThing swine vesicular disease An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B. tmpak2llvmy_mondo_relaxed.owl swine vesicular diseases|vesicular diseases, swine|vesicular disease, swine MESH:D013555|UMLS:C0039010 owl:Class MONDO:0002237 biolink:NamedThing carbuncle An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. tmpak2llvmy_mondo_relaxed.owl carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of buttock|carbuncle and furuncle of trunk|carbuncle and furuncle of neck|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of leg except foot|carbuncle and furuncle of gluteal region|carbuncle and furuncle of hand|carbuncle and furuncle of foot|carbuncle and furuncle of face MESH:D002270|EFO:1000674|UMLS:C0007078|SCTID:416893007|ICD9:680.9|ICD9:680.8|DOID:2176 owl:Class MONDO:0018296 biolink:NamedThing congenital disorder of glycosylation with developmental anomaly tmpak2llvmy_mondo_relaxed.owl CDG with developmental anomaly 2022-03-01 Orphanet:371235|ICD10:E77.8|GARD:0012782 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly owl:Class MONDO:0008943 biolink:NamedThing autosomal recessive spinocerebellar ataxia 2 The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training. tmpak2llvmy_mondo_relaxed.owl CPD 3|spinocerebellar ataxia, autosomal recessive 2|SCAR2|autosomal recessive cerebelloparenchymal disorder type 3|cerebellar granular cell hypoplasia and intellectual disability, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebelloparenchymal disorder 3|cerebellar hypoplasia, nonprogressive Norman type|PMPCA autosomal recessive congenital cerebellar ataxia|CPD3|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|cerebellar granular cell hypoplasia and mental retardation, congenital|CPDIII UMLS:C1859298|MESH:C565865|GARD:0001199|OMIM:213200|DOID:0080061|SCTID:715369006|Orphanet:1170|ICD10:G11.0 owl:Class MONDO:0020043 biolink:NamedThing autosomal recessive congenital cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl Orphanet:98095 owl:Class MONDO:0013036 biolink:NamedThing Zechi-Ceide syndrome tmpak2llvmy_mondo_relaxed.owl occipital atretic cephalocele, unusual facies and large feet|occipital atretic cephalocele-unusual facies-large feet syndrome|occipital atretic cephalocele, unusual facies, and large feet|Zechi-Ceide syndrome|Zechi Ceide syndrome ICD10:Q87.8|UMLS:C2752047|OMIM:612916|MESH:C567865|Orphanet:217017|GARD:0010582 https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome owl:Class GO:1900004 biolink:NamedThing negative regulation of serine-type endopeptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity. tmpak2llvmy_mondo_relaxed.owl down regulation of blood coagulation factor activity|down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity owl:Class MONDO:0100019 biolink:NamedThing ECHS1-related paroxysmal dyskinesia A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years. tmpak2llvmy_mondo_relaxed.owl ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia 2018-05-25 21:46:36+00:00 owl:Class MONDO:0015427 biolink:NamedThing paroxysmal dyskinesia Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). tmpak2llvmy_mondo_relaxed.owl paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis ICD9:333.5|SCTID:49949003|ICD10:G24.8|Orphanet:1431 owl:Class UBERON:0001892 biolink:NamedThing rhombomere A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP]. tmpak2llvmy_mondo_relaxed.owl hindbrain segment|future rhombencephalon|hindbrain neuromere|rhombomeres|rhombomere|hindbrain neuromeres|segment of hindbrain owl:Class MONDO:0008767 biolink:NamedThing neuronal ceroid lipofuscinosis 3 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpak2llvmy_mondo_relaxed.owl neuronal ceroid lipofuscinosis 3|Spielmeyer Sjogren disease|batten disease|neuronal ceroid lipofuscinosis caused by mutation in CLN3|ceroid lipofuscinosis, neuronal, 3|Vogt Spielmeyer disease|CLN3|CLN3 disease, juvenile|Vogt-Spielmeyer disease|Spielmeyer-Sjogren disease|ceroid lipofuscinosis, neuronal, type 3|neuronal ceroid lipofuscinosis type 3|neuronal ceroid lipofuscinosis, juvenile|CLN3 neuronal ceroid lipofuscinosis|CLN3 disease ICD10:E75.4|DOID:0110731|NCIT:C61258|GARD:0005897|OMIM:204200|Orphanet:228346 owl:Class MONDO:0013921 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 4 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene. tmpak2llvmy_mondo_relaxed.owl herpes simplex encephalitis, susceptibility to, 4|encephalopathy, acute, infection-induced, susceptibility to, 6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6|Herpes simplex encephalitis, susceptibility to, type 4|IIAE6|herpes simplex encephalitis caused by mutation in TICAM1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6|TICAM1 herpes simplex encephalitis OMIM:614850 owl:Class MONDO:0014558 biolink:NamedThing autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 32|autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|autosomal dominant non-syndromic intellectual disability 32|MRD32|mental retardation, autosomal dominant 32|intellectual disability, autosomal dominant 32|autosomal dominant mental retardation 32|KAT6A Syndrome|mental retardation, autosomal dominant type 32|intellectual disability, autosomal dominant type 32 DOID:0070062|Orphanet:457193|OMIM:616268 owl:Class UBERON:0007772 biolink:NamedThing scrotal sweat Any portion of sweat that is produced by a sweat gland of the scrotum. tmpak2llvmy_mondo_relaxed.owl sweat of scrotum|scrotum sweat|sweat of scrotal sac owl:Class UBERON:0006536 biolink:NamedThing male reproductive gland secretion A portion of organism substance that is secreted by a male reproductive gland. tmpak2llvmy_mondo_relaxed.owl male reproductive system secretion|male reproductive system fluid/secretion|male reproductive system fluid owl:Class MONDO:0008252 biolink:NamedThing platelet adenylate cyclase activity tmpak2llvmy_mondo_relaxed.owl platelet adenylate cyclase activity OMIM:173395 owl:Class MONDO:0016007 biolink:NamedThing cocaine embryofetopathy A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. tmpak2llvmy_mondo_relaxed.owl cocaine fetopathy|cocaine antenatal exposure|fetal cocaine syndrome|prenatal cocaine exposure GARD:0001413|ICD9:760.75|ICD10:Q86.8|UMLS:C0432371|Orphanet:1911|SCTID:254250002 owl:Class UBERON:0010414 biolink:NamedThing omental fat pad encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon tmpak2llvmy_mondo_relaxed.owl omental fat depot owl:Class MONDO:0008902 biolink:NamedThing camptodactyly-ichthyosis syndrome tmpak2llvmy_mondo_relaxed.owl camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome OMIM:211965|MESH:C537976|UMLS:C1859355|GARD:0010134 https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome owl:Class GO:1903961 biolink:NamedThing positive regulation of anion transmembrane transport Any process that activates or increases the frequency, rate or extent of anion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl up regulation of anion transmembrane transport|activation of anion transmembrane transport|up-regulation of anion transmembrane transport|upregulation of anion transmembrane transport owl:Class MONDO:0005134 biolink:NamedThing experimental autoimmune encephalomyelitis An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. tmpak2llvmy_mondo_relaxed.owl MESH:D004681|EFO:0001066 owl:Class IAO:8000014 biolink:NamedThing generated ontology module An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV. tmpak2llvmy_mondo_relaxed.owl TODO: Add axioms (using PROV-O?) that indicate this is the output-of some reasoning process generated ontology module owl:Class IAO:8000000 biolink:NamedThing ontology module tmpak2llvmy_mondo_relaxed.owl ontology file This class and it's subclasses are applied to OWL ontologies. Using an rdf:type triple will result in problems with OWL-DL. I propose that dcterms:type is instead used to connect an ontology URI with a class from this hierarchy. The class hierarchy is not disjoint, so multiple assertions can be made about a single ontology. I have placed this under 'data about an ontology part', but this can be discussed. I think this is OK if 'part' is interpreted reflexively, as an ontology module is the whole ontology rather than part of it. ontology module owl:Class MONDO:0023224 biolink:NamedThing inherited reflex epilepsy An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary reflex epilepsy GARD:0002455 owl:Class MONDO:0010110 biolink:NamedThing tetraamelia-multiple malformations syndrome Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. tmpak2llvmy_mondo_relaxed.owl Tetraamelia multiple malformations X-linked|TETRAAMELIA syndrome, autosomal recessive|Zimmer phocomelia|TETAMS|Zimmer Taub Sova syndrome UMLS:C2931218|Orphanet:3301|ICD10:Q87.8|SCTID:716249009|MESH:C536500|GARD:0000386 TODO split OMIM out owl:Class HGNC:2185 biolink:NamedThing COL10A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016663 biolink:NamedThing overlapping connective tissue disease tmpak2llvmy_mondo_relaxed.owl Orphanet:251312|UMLS:CN201903|MedDRA:10027754|ICD10:M35.1 owl:Class MONDO:0032926 biolink:NamedThing sandestig-stefanova syndrome tmpak2llvmy_mondo_relaxed.owl SANDESTIG-STEFANOVA SYNDROME|SANDSTEF OMIM:618804 owl:Class MONDO:0004495 biolink:NamedThing myotonic cataract A cataract occurring as a sequela of myotonic dystrophy. tmpak2llvmy_mondo_relaxed.owl DOID:82|ICD9:359.29|SCTID:64741003|ICD9:366.43|UMLS:C0027128|NCIT:C34833 owl:Class MONDO:0006221 biolink:NamedThing gastric adenoma A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. tmpak2llvmy_mondo_relaxed.owl stomach adenoma|adenoma of stomach|adenoma of the stomach|gastric adenoma EFO:1000268|UMLS:C0149826|NCIT:C7699 owl:Class MONDO:0012546 biolink:NamedThing nephrotic syndrome, type 3 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. tmpak2llvmy_mondo_relaxed.owl PLCE1 nephrotic syndrome|NPHS3|nephrotic syndrome, early-onset, type 3|nephrotic syndrome caused by mutation in PLCE1|nephrotic syndrome, type 3 DOID:0080382|OMIM:610725|UMLS:C1853124 owl:Class MONDO:0009619 biolink:NamedThing microcephaly-micromelia syndrome tmpak2llvmy_mondo_relaxed.owl microcephaly-micromelia syndrome|MIMIS Orphanet:572768|UMLS:C1855079|OMIM:251230|MESH:C565382 owl:Class MONDO:0012322 biolink:NamedThing holoprosencephaly 5 Holoprosencephaly associated with mutations in the ZIC2 gene. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly caused by mutation in ZIC2|holoprosencephaly type 5|HPE5|holoprosencephaly 5|ZIC2 holoprosencephaly UMLS:C1864827|OMIM:609637|MESH:C566464|NCIT:C75460|DOID:0110878 owl:Class MONDO:0008536 biolink:NamedThing temperature-sensitive lethal mutation tmpak2llvmy_mondo_relaxed.owl temperature-sensitive lethal mutation OMIM:187340 owl:Class HGNC:8031 biolink:NamedThing NTRK1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051251 biolink:NamedThing positive regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. tmpak2llvmy_mondo_relaxed.owl up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|upregulation of lymphocyte activation|up-regulation of lymphocyte activation owl:Class MONDO:0011757 biolink:NamedThing brachydactyly type A1B tmpak2llvmy_mondo_relaxed.owl brachydactyly, type A1, B|BDA1B OMIM:607004|DOID:0110974|MESH:C564635|UMLS:C1846949 owl:Class MONDO:0009632 biolink:NamedThing microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies tmpak2llvmy_mondo_relaxed.owl microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies OMIM:251700|UMLS:C1968637|MESH:C566884 owl:Class UBERON:0005699 biolink:NamedThing pedal digit 5 mesenchyme Mesenchyme that is part of a developing pedal digit 5. tmpak2llvmy_mondo_relaxed.owl pedal digit V mesenchyme|foot digit 5 mesenchyme|hind limb digit 5 mesenchyme owl:Class CHEBI:22271 biolink:NamedThing aflatoxin Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins tmpak2llvmy_mondo_relaxed.owl aflatoxins owl:Class HGNC:823 biolink:NamedThing ATP5F1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035965 biolink:NamedThing wall of blood vessel tmpak2llvmy_mondo_relaxed.owl vascular wall|blood vessel wall owl:Class MONDO:0033717 biolink:NamedThing congenital cerebellar ataxia due to RNU12 mutation A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. tmpak2llvmy_mondo_relaxed.owl Orphanet:512260 owl:Class HGNC:9251 biolink:NamedThing CTSA tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:24839 biolink:NamedThing inorganic salt tmpak2llvmy_mondo_relaxed.owl inorganic salts|anorganisches Salz owl:Class CHEBI:24835 biolink:NamedThing inorganic molecular entity A molecular entity that contains no carbon. tmpak2llvmy_mondo_relaxed.owl anorganische Verbindungen|inorganic molecular entities|inorganics|inorganic entity|inorganic compounds owl:Class MONDO:0004729 biolink:NamedThing dyskinesia of esophagus Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). tmpak2llvmy_mondo_relaxed.owl dyskinesia of oesophagus|oesophageal motor disorder|esophageal dysmotility|esophageal motility disorder|oesophageal dysmotility ICD9:530.5|ICD10:K22.4|UMLS:C0014858|MESH:D015154|DOID:9192|SCTID:266434009|EFO:1001785 owl:Class MONDO:0008139 biolink:NamedThing OSLAM syndrome OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. tmpak2llvmy_mondo_relaxed.owl OSLAM syndrome|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia MESH:C537138|UMLS:C1833792|GARD:0004129|ICD10:C41.9|SCTID:733064004|OMIM:165660|Orphanet:2760 owl:Class GO:0099182 biolink:NamedThing presynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016478 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion tmpak2llvmy_mondo_relaxed.owl UMLS:CN201473|ICD10:Q87.3|Orphanet:231130 owl:Class MONDO:0013942 biolink:NamedThing peroxisome biogenesis disorder 8A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group D|peroxisome biogenesis disorder 8A (Zellweger)|peroxisome biogenesis disorder, complementation group 9|PBD8A OMIM:614876|UMLS:C3553959|DOID:0080483 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100269 biolink:NamedThing peroxisome biogenesis disorder due to PEX16 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene. tmpak2llvmy_mondo_relaxed.owl PEX16 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX16 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0021499 biolink:NamedThing benign neoplasm of cerebellum A benign neoplasm that involves the cerebellum. tmpak2llvmy_mondo_relaxed.owl benign tumor of cerebellum|benign cerebellar tumor|neoplasms, cerebellar, benign|benign tumor of the cerebellum|neoplasms, benign, cerebellar|benign cerebellar neoplasms|benign neoplasm of the cerebellum|cerebellar neoplasms, benign|benign cerebellar neoplasm|cerebellum benign neoplasm NCIT:C4955|SCTID:92050000 owl:Class HGNC:1838 biolink:NamedThing CECR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019599 biolink:NamedThing primary lipodystrophy Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). tmpak2llvmy_mondo_relaxed.owl Orphanet:90970|ICD10:E88.1 owl:Class MONDO:0011906 biolink:NamedThing congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. tmpak2llvmy_mondo_relaxed.owl CBAS1|BASD1|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1|HSD3B7 congenital bile acid synthesis defect|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|bile acid synthesis defect, congenital, type 1|congenital bile acid synthesis defect, type 1|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|bile acid synthesis defect, congenital, 1|congenital bile acid synthesis defect type 1|congenital bile acid synthesis defect 1|congenital bile acid synthesis defect caused by mutation in HSD3B7 OMIM:607765|Orphanet:79301|ICD10:K76.8|MESH:C535442|GARD:0009813|DOID:0111071 owl:Class MONDO:0011012 biolink:NamedThing African iron overload African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. tmpak2llvmy_mondo_relaxed.owl Bantu siderosis|iron overload in Africa|African iron overload|hereditary iron overload and African Americans DOID:0111033|ICD10:E83.1|Orphanet:139507|SCTID:66576001|GARD:0008495|OMIM:601195|MESH:C537904 owl:Class MONDO:0014744 biolink:NamedThing acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 21 with hepatopathy|autosomal recessive spinocerebellar ataxia 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|spinocerebellar ataxia, autosomal recessive type 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|spinocerebellar ataxia, autosomal recessive 21|SCAR21 OMIM:616719|Orphanet:466794|UMLS:C4225236|DOID:0111155 owl:Class GO:0004601 biolink:NamedThing peroxidase activity Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. tmpak2llvmy_mondo_relaxed.owl guaiacol peroxidase|extensin peroxidase|lactoperoxidase activity|pyrocatechol peroxidase|donor:hydrogen-peroxide oxidoreductase activity|peroxidase reaction|MPO|secretory plant peroxidase activity|thiocyanate peroxidase|myeloperoxidase activity|japanese radish peroxidase|protoheme peroxidase|heme peroxidase|eosinophil peroxidase activity|verdoperoxidase|oxyperoxidase activity|bacterial catalase-peroxidase activity|scopoletin peroxidase|horseradish peroxidase (HRP) owl:Class GO:0016684 biolink:NamedThing oxidoreductase activity, acting on peroxide as acceptor Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:24873 biolink:NamedThing iron molecular entity tmpak2llvmy_mondo_relaxed.owl iron compounds|iron molecular entity|iron molecular entities owl:Class CHEBI:33744 biolink:NamedThing iron group molecular entity tmpak2llvmy_mondo_relaxed.owl iron group molecular entity|iron group molecular entities owl:Class MONDO:0006392 biolink:NamedThing rectal hyperplastic polyp A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps. tmpak2llvmy_mondo_relaxed.owl hyperplastic polyp of rectum|hyperplastic polyp of the rectum|rectal MP|rectal metaplastic polyp|rectal Hp EFO:1000502|UMLS:C1335679|NCIT:C5619 owl:Class MONDO:0004899 biolink:NamedThing monofixation syndrome tmpak2llvmy_mondo_relaxed.owl microtropia|microstrabismus DOID:9843|ICD9:378.34|SCTID:14785004|UMLS:C0339611|ICD10:H50.42 owl:Class GO:0033119 biolink:NamedThing negative regulation of RNA splicing Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000513 biolink:NamedThing bone ameloblastoma A ameloblastoma that involves the bone tissue. tmpak2llvmy_mondo_relaxed.owl ameloblastoma of bone tissue|bone tissue ameloblastoma DOID:0050895 owl:Class MONDO:0015282 biolink:NamedThing cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl Krasnow-Qazi syndrome|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|Krasnow Qazi syndrome|cardiomyopathy cataract hip spine disease|Krasnow Qazi Yermakov syndrome Orphanet:1345|UMLS:C2931548|MESH:C537616|GARD:0001102|SCTID:720609003 https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease owl:Class MONDO:0019427 biolink:NamedThing X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. tmpak2llvmy_mondo_relaxed.owl ICD10:G31.8|Orphanet:85334|UMLS:CN206185|SCTID:718849008 owl:Class GO:0006942 biolink:NamedThing regulation of striated muscle contraction Any process that modulates the frequency, rate or extent of striated muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005203 biolink:NamedThing trachea gland a tubuloacinar seromucous gland that is located principally in the submucosa of the trachea. Excretory ducts from this gland pass through the lamina propria to the tracheal lumen. tmpak2llvmy_mondo_relaxed.owl tubular seromucous gland of trachea|glandula trachealis|tracheal gland owl:Class GO:1905555 biolink:NamedThing positive regulation of blood vessel branching Any process that activates or increases the frequency, rate or extent of blood vessel branching. tmpak2llvmy_mondo_relaxed.owl upregulation of branching involved in blood vessel morphogenesis|up regulation of patterning of blood vessels|upregulation of patterning of blood vessels|up-regulation of patterning of blood vessels|up-regulation of branching involved in blood vessel morphogenesis|activation of branching involved in blood vessel morphogenesis|up regulation of branching involved in blood vessel morphogenesis|activation of patterning of blood vessels|positive regulation of branching involved in blood vessel morphogenesis owl:Class GO:0045766 biolink:NamedThing positive regulation of angiogenesis Any process that activates or increases angiogenesis. tmpak2llvmy_mondo_relaxed.owl upregulation of angiogenesis|activation of angiogenesis|up regulation of angiogenesis|stimulation of angiogenesis|up-regulation of angiogenesis owl:Class GO:0002865 biolink:NamedThing negative regulation of acute inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl down-regulation of acute inflammatory response to antigenic stimulus|inhibition of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down regulation of acute inflammatory response to antigenic stimulus owl:Class GO:0042626 biolink:NamedThing ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. tmpak2llvmy_mondo_relaxed.owl ATP-dependent transmembrane transporter activity|P-P-bond-hydrolysis-driven transmembrane transporter activity|P-P-bond-hydrolysis-driven transporter|ATPase activity, coupled to movement of substances|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|ATP-coupled transmembrane transporter activity|ATPase activity, coupled to transmembrane movement of substances owl:Class GO:0140657 biolink:NamedThing ATP-dependent activity A molecular function characterized by the coupling of ATP hydrolysis to other steps of a reaction mechanism to make the reaction energetically favorable, for example to catalyze a reaction or drive transport against a concentration gradient. tmpak2llvmy_mondo_relaxed.owl ATPase activity, coupled|ATPase-dependent activity|ATP hydrolysis-dependent activity owl:Class MONDO:0012897 biolink:NamedThing congenital factor XI deficiency Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. tmpak2llvmy_mondo_relaxed.owl plasma thromboplastin antecedent deficiency|congenital factor XI deficiency|PTA deficiency|F11 deficiency|hemophilia C|Rosenthal syndrome|hereditary Factor XI deficiency|factor XI deficiency|Rosenthal's disease|Rosenthal factor deficiency|hereditary factor XI deficiency disease|factor 11 deficiency|hereditary factor XI deficiency ICD9:286.2|MESH:D005173|NCIT:C84705|GARD:0009670|OMIM:612416|ICD10:D68.1|UMLS:C0015523|DOID:2229|SCTID:49762007|Orphanet:329 https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency owl:Class MONDO:0000976 biolink:NamedThing paratesticular lipoma A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. tmpak2llvmy_mondo_relaxed.owl paratesticular lipoma NCIT:C6384|UMLS:C1335348|DOID:10207 owl:Class MONDO:0021238 biolink:NamedThing cornea neoplasm A neoplasm (disease) that involves the cornea. tmpak2llvmy_mondo_relaxed.owl tumor of the cornea|cornea neoplasm (disease)|neoplasm of the cornea|neoplasm of cornea|corneal tumor|cornea tumor|tumor of cornea|corneal neoplasm NCIT:C4361|UMLS:C0339304 owl:Class CHEBI:16336 biolink:NamedThing hyaluronic acid A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. tmpak2llvmy_mondo_relaxed.owl acido hialuronico|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n|Hyaluronsaeure|acide hyaluronique|[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|Hyaluronic acid|hyaluronan owl:Class CHEBI:72813 biolink:NamedThing exopolysaccharide A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. tmpak2llvmy_mondo_relaxed.owl extracellular polymeric substance|exopolysaccharides|extracellular polymeric substances owl:Class UBERON:0001513 biolink:NamedThing skin of pes A zone of skin that is part of a pes [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foot skin|skin of hind-paw|skin of foot owl:Class MONDO:0060640 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy|NEDMEBA OMIM:617862|UMLS:CN787271 owl:Class MONDO:0006232 biolink:NamedThing giant cell tumor of soft tissue A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes. tmpak2llvmy_mondo_relaxed.owl GCT-ST|Osteoclastoma of soft tissue|giant cell tumor of soft tissue UMLS:C0334553|ICDO:9251/1|EFO:1000281|NCIT:C49107 owl:Class HGNC:2652 biolink:NamedThing CYP7B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019231 biolink:NamedThing inborn disorder of pentose phosphate metabolism tmpak2llvmy_mondo_relaxed.owl disorder of pentose phosphate metabolism ICD10:E74.8|UMLS:CN227596|Orphanet:79186 owl:Class MONDO:0012043 biolink:NamedThing Reis-Bucklers corneal dystrophy Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy geographic|geographic corneal dystrophy|corneal dystrophy of Bowman layer type I|anterior limiting membrane dystrophy type 1|corneal dystrophy, REIS-Bucklers type|CDB1|superficial granular corneal dystrophy|CDRB|Reis Bucklers corneal dystrophy|granular corneal dystrophy type III|Reis Bucklers dystrophy|corneal dystrophy Reis Bucklers type|corneal dystrophy of Bowman layer type 1|atypical granular corneal dystrophy|granular corneal dystrophy, type 3|corneal dystrophy of Bowman Layer, type 1|granular corneal dystrophy type 3|corneal dystrophy, geographic|RBCD|Reis-Bucklers corneal dystrophy|anterior limiting membrane dystrophy type I|Reis-Bücklers corneal dystrophy SCTID:231930000|Orphanet:98961|OMIM:608470|UMLS:C0339278|MESH:C535476|ICD9:371.52|GARD:0009276|DOID:0060453|ICD10:H18.5 owl:Class NCBITaxon:131567 biolink:NamedThing cellular organisms tmpak2llvmy_mondo_relaxed.owl biota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018515 biolink:NamedThing squamous cell carcinoma of rectum A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpak2llvmy_mondo_relaxed.owl rectal squamous cell cancer|squamous cell carcinoma of rectum|squamous carcinoma of the rectum|rectum squamous cell carcinoma|squamous carcinoma of rectum|squamous cell carcinoma of the rectum|rectal squamous cell carcinoma|rectal squamous carcinoma DOID:5528|Orphanet:424002|SCTID:766979005|ICD10:C20|UMLS:C1335690|NCIT:C5554 owl:Class HGNC:20422 biolink:NamedThing POLR1D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013831 biolink:NamedThing keratoconus 6 tmpak2llvmy_mondo_relaxed.owl keratoconus 6|KTCN6 UMLS:C3553306|OMIM:614623 owl:Class MONDO:0009105 biolink:NamedThing trichohepatoenteric syndrome A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. tmpak2llvmy_mondo_relaxed.owl syndromic diarrhea/Tricho-hepato-enteric syndrome|Trichohepatoenteric syndrome|Tricho-hepato-enteric syndrome|THES1|Syndromatic diarrhea|syndromic diarrhea|SD/THE|phenotypic diarrhea|Trichohepatoenteric syndrome type 1 Orphanet:84064|OMIMPS:222470|SCTID:703406006|GARD:0005258|DOID:0111414|UMLS:C1857276 owl:Class MONDO:0008330 biolink:NamedThing pseudomonilethrix tmpak2llvmy_mondo_relaxed.owl pseudomonilethrix MESH:C562988|UMLS:C0432346|SCTID:254229006|OMIM:177750 owl:Class MONDO:0016116 biolink:NamedThing generalized bulbospinal muscular atrophy tmpak2llvmy_mondo_relaxed.owl Orphanet:206710|ICD10:G12.2 owl:Class MONDO:0013818 biolink:NamedThing trichohepatoenteric syndrome 2 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. tmpak2llvmy_mondo_relaxed.owl THES2|Trichohepatoenteric syndrome 2|TRICHOHEPATOENTERIC syndrome 2|Trichohepatoenteric syndrome type 2|SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L DOID:0111416|OMIM:614602|UMLS:C3281289 owl:Class UBERON:0003640 biolink:NamedThing pedal digit 1 phalanx A phalanx that is part of a foot digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx of first digit of foot|hallux phalanx|phalanx of first toe|phalanx of foot digit 1|foot digit 1 phalanx|pedal digit I phalanx|foot digit 1 long bone of digit|digit long bone of foot digit 1|foot digit 1 digit long bone|phalanx of great toe|hind limb digit 1 phalanx|long bone of digit of foot digit 1|phalanx of hallux|phalanx of big toe|hallux long bone of digit|long bone of digit of hallux|digit long bone of hallux|hallux digit long bone|big toe phalanx owl:Class MONDO:0003280 biolink:NamedThing swayback Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) tmpak2llvmy_mondo_relaxed.owl swayback of sheep DOID:5112|MESH:D013540|SCTID:61960001 owl:Class MONDO:0000488 biolink:NamedThing periampullary adenoma A adenoma that involves the periampullary region of duodenum. tmpak2llvmy_mondo_relaxed.owl periampullary region of duodenum adenoma DOID:0050849|UMLS:CN068444 owl:Class MONDO:0023093 biolink:NamedThing exertional headache tmpak2llvmy_mondo_relaxed.owl primary Exertional headache|primary headache associated with sexual activity GARD:0010800 https://rarediseases.info.nih.gov/diseases/10800/exertional-headache owl:Class MONDO:0013956 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. tmpak2llvmy_mondo_relaxed.owl Stat1 deficiency, autosomal dominant|IMD31A|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|immunodeficiency type 31A|MSMD due to partial STAT1 deficiency|immunodeficiency 31A|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|MSMD due to partial signal transducer and activator of transcription 1 deficiency ICD10:D84.8|UMLS:C4013950|Orphanet:319595|OMIM:614892 owl:Class MONDO:0013427 biolink:NamedThing immunodeficiency 31B tmpak2llvmy_mondo_relaxed.owl susceptibility to viral and mycobacterial infections|immunodeficiency 31B|STAT1 deficiency|IMD31B|immunodeficiency type 31B|Stat1 deficiency, autosomal recessive|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive OMIM:613796|ICD10:D84.8|Orphanet:391311|UMLS:C3151088 owl:Class UBERON:0004205 biolink:NamedThing inner medullary collecting duct The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla tmpak2llvmy_mondo_relaxed.owl inner renal medulla collecting duct|papillary collecting duct|kidney inner medulla collecting duct owl:Class MONDO:0019377 biolink:NamedThing Mycoplasma encephalitis Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). tmpak2llvmy_mondo_relaxed.owl Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis Orphanet:83482|ICD10:B96.0 owl:Class HGNC:15993 biolink:NamedThing CHST8 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002050 biolink:NamedThing Fraction C' precursor B cell A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive. tmpak2llvmy_mondo_relaxed.owl Fraction C-prime|Fr. C' tmeehan 2010-04-28T02:13:46Z cell owl:Class MONDO:0010545 biolink:NamedThing Nance-Horan syndrome Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl cataract-dental syndrome|NHS|cataract, X-linked, with Hutchinsonian teeth|cataract dental syndrome|Mesiodens cataract syndrome|Nance-Horan syndrome|cataract X-linked with Hutchinsonian teeth|Mesiodens-cataract syndrome SCTID:445257004|UMLS:C0796085|MESH:C538336|ICD9:759.89|DOID:0060599|GARD:0007161|OMIM:302350|Orphanet:627|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome owl:Class CL:1000479 biolink:NamedThing Purkinje myocyte of atrioventricular node A Purkinje myocyte that is part of the atrioventricular node. tmpak2llvmy_mondo_relaxed.owl FMA:83386 cell owl:Class MONDO:0017973 biolink:NamedThing non-classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpak2llvmy_mondo_relaxed.owl ICD10:E25.0|Orphanet:325529 owl:Class MONDO:0011391 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. tmpak2llvmy_mondo_relaxed.owl megalencephalic leukodystrophy|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy syndrome|megalencephaly-cystic leukodystrophy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukoencephalopathy with subcortical cysts 1|MLC1|MLC|megalencephalic leukoencephalopathy with subcortical cysts type 1 MESH:C536141|GARD:0003445|SCTID:703536004|ICD10:E75.2|UMLS:CN176898|Orphanet:2478|DOID:0080315 https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts owl:Class MONDO:0000137 biolink:NamedThing leukoencephalopathy, megalencephalic tmpak2llvmy_mondo_relaxed.owl OMIMPS:604004 owl:Class GO:0002638 biolink:NamedThing negative regulation of immunoglobulin production Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production. tmpak2llvmy_mondo_relaxed.owl negative regulation of immunoglobulin biosynthetic process|down regulation of immunoglobulin production|down-regulation of immunoglobulin production|downregulation of immunoglobulin production|inhibition of immunoglobulin production|negative regulation of immunoglobulin secretion owl:Class GO:0002701 biolink:NamedThing negative regulation of production of molecular mediator of immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. tmpak2llvmy_mondo_relaxed.owl down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response|down-regulation of production of molecular mediator of immune response owl:Class MONDO:0020797 biolink:NamedThing decompression sickness A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. tmpak2llvmy_mondo_relaxed.owl Compressed-air disease|Diseases, Caisson|Decompression sickness|the bends|Disease, Caisson|Divers' paralysis|Caisson disease|caisson disease|Compressed air disease|divers' paralysis|Decompression Sickness|Caisson Disease|CAISSON DIS|Caisson Diseases|The bends|compressed-air disease|Rapture of the deep syndrome|Divers' palsy|divers' palsy|Sickness, Decompression|bends|Bends|decompression sickness UMLS:C0011119|MESH:D003665|SCTID:89684003|ICD9:993.3 owl:Class MONDO:0018579 biolink:NamedThing disorder of ketone body transport tmpak2llvmy_mondo_relaxed.owl disorder of ketone body transport|disorder of keton body transport Orphanet:438072|UMLS:CN237600 owl:Class MONDO:0019223 biolink:NamedThing inborn disorder of fatty acid oxidation and ketone body metabolism tmpak2llvmy_mondo_relaxed.owl disorder of fatty acid oxidation and ketone body metabolism UMLS:CN227590|ICD10:E71.3|Orphanet:79174 owl:Class MONDO:0017792 biolink:NamedThing 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. tmpak2llvmy_mondo_relaxed.owl trisomy 7p22.1|dup(7)(p22.1) UMLS:CN203742|SCTID:764703002|ICD10:Q92.3|Orphanet:314034 owl:Class GO:0046952 biolink:NamedThing ketone body catabolic process The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. tmpak2llvmy_mondo_relaxed.owl ketone body breakdown|ketone body degradation|ketone body catabolism|utilization of ketone bodies|ketolysis owl:Class MONDO:0015678 biolink:NamedThing dysplasia of head of femur, Meyer type Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. tmpak2llvmy_mondo_relaxed.owl SCTID:715861004|ICD10:Q78.8|UMLS:C4274970|Orphanet:168621 owl:Class CL:0001053 biolink:NamedThing IgD-negative memory B cell A memory B cell that lacks expression of surface IgD. tmpak2llvmy_mondo_relaxed.owl IgD- memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD- memory B cell'. The majority of these cells are class-switched, though some are IgM-positive. cell owl:Class HGNC:7939 biolink:NamedThing NPPA tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011767 biolink:NamedThing Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl Parathyroid issue|Parathyroid dysfunction UMLS:C4023198 peter 2012-04-22T04:09:13Z human_phenotype owl:Class UBERON:0004480 biolink:NamedThing musculature of limb Any collection of muscles that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle group of limb|limb muscle system|limb musculature|set of muscles of limb owl:Class UBERON:0007271 biolink:NamedThing appendage musculature Any collection of muscles that is part of an appendage. tmpak2llvmy_mondo_relaxed.owl fin musculature owl:Class HGNC:67 biolink:NamedThing ABCD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019393 biolink:NamedThing idiopathic malabsorption due to bile acid synthesis defects Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. tmpak2llvmy_mondo_relaxed.owl idiopathic bile acid malabsorption Orphanet:84065|ICD10:K90.8 owl:Class GO:1902533 biolink:NamedThing positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. tmpak2llvmy_mondo_relaxed.owl up-regulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular signaling cascade|up-regulation of intracellular signal transduction pathway|up-regulation of signal transmission via intracellular cascade|activation of intracellular signaling pathway|up-regulation of intracellular signaling pathway|upregulation of intracellular signaling cascade|positive regulation of intracellular signaling chain|upregulation of intracellular signaling pathway|up regulation of intracellular signaling cascade|up regulation of intracellular signaling pathway|positive regulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular signaling pathway|upregulation of intracellular signaling chain|activation of intracellular signaling chain|up regulation of signal transduction via intracellular signaling cascade|activation of intracellular signal transduction|up-regulation of intracellular signaling chain|activation of intracellular signal transduction pathway|up regulation of intracellular signaling chain|upregulation of intracellular signal transduction pathway|activation of signal transmission via intracellular cascade|positive regulation of intracellular signal transduction pathway|positive regulation of signal transmission via intracellular cascade|activation of intracellular signaling cascade|activation of signal transduction via intracellular signaling cascade|up-regulation of intracellular signaling cascade|up-regulation of intracellular signal transduction|upregulation of intracellular signal transduction|up regulation of intracellular signal transduction|upregulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular protein kinase cascade|up regulation of intracellular signal transduction pathway|upregulation of signal transmission via intracellular cascade|up regulation of signal transmission via intracellular cascade owl:Class MONDO:0021012 biolink:NamedThing susceptibility to visceral leishmaniasis, 1 tmpak2llvmy_mondo_relaxed.owl kala-Azar, susceptibility to, 1|KAZA1|leishmaniasis, visceral, susceptibility to, 1 OMIM:608207 owl:Class MONDO:0005445 biolink:NamedThing visceral leishmaniasis A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. tmpak2llvmy_mondo_relaxed.owl viscus leishmaniasis|kala-azar|infection by visceral leishmaniasis|kala-azar susceptibility|kala-azar, susceptibility to ICD10:B55.0|OMIMPS:608207|ICD9:085.0|UMLS:C0023290|SCTID:186803007|DOID:9146|NCIT:C34771|MESH:D007898|EFO:0005045 Editor note: split out susceptibility/PS owl:Class HGNC:11812 biolink:NamedThing TRIM24 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007663 biolink:NamedThing glaucoma with elevated episcleral venous pressure tmpak2llvmy_mondo_relaxed.owl glaucoma with elevated episcleral venous pressure MESH:C564235|UMLS:C1842030|OMIM:137700 owl:Class HGNC:25613 biolink:NamedThing CWF19L1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004465 biolink:NamedThing musculature of neck Any collection of muscles that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neck musculature|set of muscles of neck|muscles of neck|musculi colli|musculi cervicis|muscle group of neck|cervical muscles owl:Class ECTO:7000075 biolink:NamedThing exposure to permafrost A exposure event involving the interaction of an exposure receptor to permafrost. tmpak2llvmy_mondo_relaxed.owl permafrost exposure owl:Class MONDO:0001858 biolink:NamedThing Tietze syndrome Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. tmpak2llvmy_mondo_relaxed.owl Costochondritis|costochondral junction syndrome|slipping rib syndrome|Tietze syndrome|Tietze's disease|costochondral joint syndromic disease|Costalchondritis|Tietze's syndrome|syndromic disease of costochondral joint|Chondropathia tuberosa GARD:0010100|MESH:D013991|NCIT:C168333|UMLS:C0040213|ICD9:733.6|DOID:14021|ICD10:M94.0|SCTID:30128009 owl:Class MONDO:0008059 biolink:NamedThing Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. tmpak2llvmy_mondo_relaxed.owl NFJS|Naegeli-Franceschetti-Jadassohn syndrome|NFJ syndrome|Nfj syndrome|Naegeli syndrome|NAEGELI-Franceschetti-Jadassohn syndrome|reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|NAEGELI syndrome DOID:0111528|MESH:C538331|GARD:0003912|UMLS:C0343111|ICD10:Q82.4|OMIM:161000|SCTID:239084001|Orphanet:69087 owl:Class MONDO:0016681 biolink:NamedThing gliosarcoma A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). tmpak2llvmy_mondo_relaxed.owl glioblastoma with a sarcomatous component|sarcomatous glioblastoma|glioblastoma with sarcomatous component|gliosarcoma NCIT:C3796|GARD:0005653|EFO:1001465|UMLS:C0206726|ICD10:G71.9|ONCOTREE:GSARC|Orphanet:251576|DOID:3071|ICDO:9442/3|MESH:D018316|MedDRA:10018340 https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma owl:Class MONDO:0000632 biolink:NamedThing uterine benign neoplasm A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. tmpak2llvmy_mondo_relaxed.owl benign tumor of the uterus|Uterous neoplasms, benign|benign uterus tumors|uterine tumors, benign|benign uterus tumor|uterine neoplasms, benign|benign neoplasm of uterus|benign uterine neoplasms|benign neoplasm of the uterus|Uterous tumors, benign|uterus benign neoplasm|benign uterine neoplasm|benign uterine tumor|benign uterus neoplasms|benign tumor of uterus|benign uterine tumors|benign uterus neoplasm NCIT:C3609|ICD9:219.8|DOID:0060095|ICD9:219.9|UMLS:C0153999|SCTID:92470003 owl:Class MONDO:0008927 biolink:NamedThing colobomatous optic disc-macular atrophy-chorioretinopathy syndrome tmpak2llvmy_mondo_relaxed.owl ODRMD|optic DISC anomalies with retinal and/or macular dystrophy OMIM:212550|DOID:0080635|Orphanet:435930|ICD10:Q14.8|MESH:C565876|UMLS:CN237578 owl:Class CL:1000322 biolink:NamedThing pancreatic goblet cell A goblet cell that is part of the epithelium of pancreatic duct. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of pancreatic duct FMA:263058 cell owl:Class MONDO:0044878 biolink:NamedThing adult germ cell tumor A germ cell tumor that occurs during adulthood. tmpak2llvmy_mondo_relaxed.owl Adult germ cell tumor|germ cell tumor of adults|germ cell tumor NCIT:C114777 owl:Class MONDO:0002640 biolink:NamedThing optic nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. tmpak2llvmy_mondo_relaxed.owl tumor of second cranial nerve|neoplasms, optic nerve|tumor of cranial nerve II|neoplasm of the second cranial nerve|neoplasm of cranial nerve II|neoplasms, second cranial nerve|neoplasm of optic nerve|optic nerve tumor|tumor of the second cranial nerve|optic nerve neoplasm|second cranial nerve neoplasms|optic nerve neoplasms|cranial nerve II neoplasms|cranial nerve II neoplasm (disease)|second cranial nerve neoplasm|cranial nerve II tumor|tumor of optic nerve|neoplasm of second cranial nerve|tumour of optic nerve|cranial nerve II neoplasm|tumor of the optic nerve|neoplasm of the optic nerve|second cranial nerve tumor EFO:1001073|MESH:D019574|DOID:3419|UMLS:C0524802|ICD9:239.7|SCTID:395505000|NCIT:C4801 owl:Class MONDO:0007045 biolink:NamedThing acrofacial dysostosis, Catania type Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. tmpak2llvmy_mondo_relaxed.owl Afd, Catania type|AFD Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type|Opitz Mollica Sorge syndrome|acrofacial dysostosis, Catania type OMIM:101805|SCTID:720419000|UMLS:C2931762|ICD10:Q75.4|DOID:0060384|Orphanet:1786|MESH:C538182|GARD:0000494 owl:Class HGNC:8624 biolink:NamedThing PAXIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016491 biolink:NamedThing vertebral centrum element Skeletal element that functionally replaces the notochord[VSAP,modified]. tmpak2llvmy_mondo_relaxed.owl centrum|centrum of vertebra owl:Class MONDO:0019701 biolink:NamedThing chondrodysplasia punctata A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. tmpak2llvmy_mondo_relaxed.owl CDP|chondrodysplasia punctata congenita|chondrodysplasia punctata (stippled epiphyses) Group|chondrodysplasia calcificans congenita SCTID:360507004|GARD:0008542|UMLS:C0008445|MESH:D002806|NCIT:C84632|Orphanet:93442|ICD10:Q77.3|DOID:2581|ICD9:756.59 owl:Class CHEBI:73181 biolink:NamedThing EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11). tmpak2llvmy_mondo_relaxed.owl L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|L-ascorbic acid-specific peroxidase inhibitors|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|L-ascorbate peroxidase inhibitor|ascorbate peroxidase inhibitors|L-ascorbic acid-specific peroxidase inhibitor|L-ascorbate peroxidase inhibitors|EC 1.11.1.11 inhibitor|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor|ascorbic acid peroxidase inhibitors|L-ascorbic acid peroxidase inhibitors|L-ascorbic acid peroxidase inhibitor|EC 1.11.1.11 inhibitors|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors owl:Class CHEBI:75381 biolink:NamedThing EC 1.11.1.* (peroxidases) inhibitor An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*). tmpak2llvmy_mondo_relaxed.owl EC 1.11.1.* (peroxidase) inhibitors|EC 1.11.1.* (peroxidase) inhibitor|EC 1.11.1.* inhibitor|EC 1.11.1 inhibitors|inhibitors of peroxidases|inhibitor of peroxidases|EC 1.11.1 inhibitor|EC 1.11.1.* inhibitors|EC 1.11.1.* (peroxidases) inhibitors|peroxidases inhibitors owl:Class UBERON:0004401 biolink:NamedThing bone tissue of distal epiphysis A portion of bone tissue that is part of a distal epiphysis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009014 biolink:NamedThing lower back skin A zone of skin that is part of a lower back. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006741 biolink:NamedThing encephalomalacia Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. tmpak2llvmy_mondo_relaxed.owl DOID:2034|SCTID:58762006|EFO:1000915|MedDRA:10051818|UMLS:C0014068|NCIT:C98920|MESH:D004678 owl:Class MONDO:0018250 biolink:NamedThing diffuse palmoplantar keratoderma with painful fissures tmpak2llvmy_mondo_relaxed.owl UMLS:CN204824|ICD10:Q82.8|Orphanet:369999 owl:Class HGNC:25382 biolink:NamedThing TMEM126A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004185 biolink:NamedThing ovarian serous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovary serous cystadenofibroma|ovarian serous cystadenofibroma UMLS:C0877572|NCIT:C40032|DOID:7320 owl:Class MONDO:0023050 biolink:NamedThing ectrodactyly cardiopathy dysmorphism tmpak2llvmy_mondo_relaxed.owl ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome MESH:C536187|GARD:0002063|UMLS:C2931127 https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism owl:Class MONDO:0100126 biolink:NamedThing P5CS deficiency An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. tmpak2llvmy_mondo_relaxed.owl delta1-pyrroline-5-carboxylate synthetase deficiency|P5CS deficiency http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003425 biolink:NamedThing renal lymph node A lymph node that is located in a kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lymph node of kidney|kidney lymph node owl:Class MONDO:0001365 biolink:NamedThing necrosis of ear ossicle tmpak2llvmy_mondo_relaxed.owl partial loss or necrosis of ear ossicles DOID:11783|ICD9:385.24 Editor note: TODO consider cede to HPO owl:Class NCBITaxon:10405 biolink:NamedThing Orthohepadnavirus tmpak2llvmy_mondo_relaxed.owl mammalian hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:7892 biolink:NamedThing PNP tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:53000 biolink:NamedThing epitope The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. tmpak2llvmy_mondo_relaxed.owl antigenic determinant|epitope function|epitope role owl:Class MONDO:0030963 biolink:NamedThing Li-Campeau syndrome tmpak2llvmy_mondo_relaxed.owl LICAS OMIM:619189 owl:Class NCBITaxon:34395 biolink:NamedThing Chaetothyriales tmpak2llvmy_mondo_relaxed.owl black yeasts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013078 biolink:NamedThing type 1 diabetes mellitus 24 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 24|insulin-dependent diabetes mellitus 24|IDDM24 MESH:C567818|UMLS:C2751697|ICD10:E10|OMIM:613006|DOID:0110761 owl:Class MONDO:0002058 biolink:NamedThing breast adenoma A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. tmpak2llvmy_mondo_relaxed.owl breast adenoma|Ademoma - breast NCIT:C40382|DOID:1625|UMLS:C1328385 owl:Class MONDO:0007544 biolink:NamedThing eosinophilia, familial Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. tmpak2llvmy_mondo_relaxed.owl eosinophilia, familial|familial eosinophilia|Eos MESH:C562722|OMIM:131400|GARD:0010521|SCTID:79336007 https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia owl:Class GO:0006906 biolink:NamedThing vesicle fusion Fusion of the membrane of a transport vesicle with its target membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090174 biolink:NamedThing organelle membrane fusion The joining of two lipid bilayers to form a single organelle membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003338 biolink:NamedThing ganglion of peripheral nervous system A spatially aggregated collection of nerve cell bodies in the PNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections. (CUMBO). tmpak2llvmy_mondo_relaxed.owl peripheral nervous system ganglion owl:Class HP:0002098 biolink:NamedThing Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. tmpak2llvmy_mondo_relaxed.owl Labored breathing|Breathing difficulties|Respiratory difficulties SNOMEDCT_US:230145002|MSH:D004417|SNOMEDCT_US:271825005|SNOMEDCT_US:267036007|UMLS:C0013404|UMLS:C0476273 HP:0002880 human_phenotype owl:Class HP:0002094 biolink:NamedThing Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. tmpak2llvmy_mondo_relaxed.owl Abnormal breathing|Panting|Difficult to breathe|Shortness of breath|Breathing difficulty|Dyspnoea|Trouble breathing|Difficulty breathing UMLS:C0013404|SNOMEDCT_US:230145002|MSH:D004417|SNOMEDCT_US:267036007 human_phenotype owl:Class MONDO:0007695 biolink:NamedThing hairy palms and soles tmpak2llvmy_mondo_relaxed.owl hairy palms and soles|thickened hair-bearing skin on the palms of both hands|circumscribed hairy Dysembryoplasia of palms|hairy cutaneous malformations of palms and soles OMIM:139650|MESH:C535620|GARD:0008461 https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles owl:Class GO:1903708 biolink:NamedThing positive regulation of hemopoiesis Any process that activates or increases the frequency, rate or extent of hemopoiesis. tmpak2llvmy_mondo_relaxed.owl activation of blood cell formation|positive regulation of blood cell formation|up regulation of hematopoiesis|upregulation of hemopoiesis|up-regulation of hematopoiesis|up-regulation of blood cell formation|up-regulation of hemopoiesis|up regulation of hemopoiesis|up regulation of blood cell biosynthesis|activation of haemopoiesis|up regulation of blood cell formation|up-regulation of blood cell biosynthesis|positive regulation of haemopoiesis|activation of hematopoiesis|up regulation of haemopoiesis|up-regulation of haemopoiesis|activation of blood cell biosynthesis|upregulation of haemopoiesis|upregulation of blood cell formation|positive regulation of hematopoiesis|activation of hemopoiesis|positive regulation of blood cell biosynthesis|upregulation of blood cell biosynthesis|upregulation of hematopoiesis owl:Class MONDO:0011571 biolink:NamedThing deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|Dfna39/dentinogenesis imperfecta 1 syndrome OMIM:605594|MESH:C565316|UMLS:C1854146 owl:Class HGNC:29 biolink:NamedThing ABCA1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:31604 biolink:NamedThing Small ruminant morbillivirus tmpak2llvmy_mondo_relaxed.owl Pseudorinderpest virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11229 biolink:NamedThing Morbillivirus tmpak2llvmy_mondo_relaxed.owl Morbilliviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0042973 biolink:NamedThing familial osteosclerosis An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary osteosclerosis GARD:0004174 owl:Class MONDO:0011338 biolink:NamedThing Omenn syndrome An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). tmpak2llvmy_mondo_relaxed.owl reticuloendotheliosis familial with eosinophilia|combined immunodeficiency with hypereosinophilia|Omenn syndrome|severe combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia DOID:0060010|NCIT:C61240|GARD:0008198|SCTID:722067005|UMLS:C1801959|OMIM:603554|MedDRA:10069097|Orphanet:39041|ICD10:D81.8 https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome owl:Class HGNC:924 biolink:NamedThing B4GALT1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:7000064 biolink:NamedThing exposure to air A exposure event involving the interaction of an exposure receptor to air. tmpak2llvmy_mondo_relaxed.owl air exposure owl:Class MONDO:0012940 biolink:NamedThing inflammatory bowel disease 24 An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 24|IBD24|inflammatory bowel disease 24 MESH:C567252|DOID:0110908|OMIM:612566|UMLS:C2675509 owl:Class MONDO:0017527 biolink:NamedThing polydactyly of an index finger, unilateral tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly type 3, unilateral Orphanet:295152|ICD10:Q69.0|UMLS:CN203258 owl:Class MONDO:0008271 biolink:NamedThing polydactyly of an index finger Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. tmpak2llvmy_mondo_relaxed.owl polydactyly, preaxial 3|preaxial polydactyly type 3|polydactyly, preaxial type 3|polydactyly, preaxial III|index finger polydactyly|PPD3 UMLS:C1868113|GARD:0002256|OMIM:174600|Orphanet:93337|MESH:C566784|ICD10:Q69.0|SCTID:723446006 owl:Class GO:0046146 biolink:NamedThing tetrahydrobiopterin metabolic process The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine. tmpak2llvmy_mondo_relaxed.owl 5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism owl:Class GO:0042558 biolink:NamedThing pteridine-containing compound metabolic process The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. tmpak2llvmy_mondo_relaxed.owl pterin metabolic process|pteridine and derivative metabolism|pterin metabolism|pteridine-containing compound metabolism|pteridine and derivative metabolic process owl:Class GO:0031331 biolink:NamedThing positive regulation of cellular catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl upregulation of cellular catabolic process|up-regulation of cellular catabolic process|positive regulation of cellular catabolism|positive regulation of cellular breakdown|up regulation of cellular catabolic process|activation of cellular catabolic process|positive regulation of cellular degradation|stimulation of cellular catabolic process owl:Class MONDO:0014482 biolink:NamedThing intellectual disability, autosomal dominant 29 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. tmpak2llvmy_mondo_relaxed.owl SETBP1-related disorder|MRD29|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome|autosomal dominant non-syndromic intellectual disability 29|SETBP1-related intellectual disability|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|intellectual disability, autosomal dominant type 29|mental retardation, autosomal dominant type 29|mental retardation, autosomal dominant 29|intellectual disability, autosomal dominant 29|SETBP1 related developmental delay|autosomal dominant mental retardation 29|SETBP1 disorder|autosomal dominant intellectual disability 29 DOID:0070059|OMIM:616078|UMLS:C4015141|GARD:0013379 owl:Class MONDO:0018574 biolink:NamedThing intellectual disability-expressive aphasia-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl intellectual disability-loss of expressive language-facial dysmorphism syndrome Orphanet:436151|ICD10:Q87.0|UMLS:CN237587 owl:Class MONDO:0019747 biolink:NamedThing hematological disorder with renal involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227684|Orphanet:93614 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hematologic disease' MONDO_0005570 owl:Class UBERON:0003440 biolink:NamedThing limb nerve A nerve that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of limb owl:Class MONDO:0003057 biolink:NamedThing pediatric meningioma A meningioma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric meningioma|pediatric meningioma (disease)|childhood meningioma|meningioma (disease) of childhood|meningioma|childhood meningioma (disease) DOID:4593|UMLS:C0280656|NCIT:C8264 owl:Class SO:0000300 biolink:NamedThing recombination_feature_of_rearranged_gene A location where a gene is rearranged due to recombination during mitosis or meiosis. tmpak2llvmy_mondo_relaxed.owl recombination feature of rearranged gene owl:Class MONDO:0100034 biolink:NamedThing cerebral folate deficiency Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 19:01:19+00:00 owl:Class MONDO:0032767 biolink:NamedThing paragangliomas 6 tmpak2llvmy_mondo_relaxed.owl PARAGANGLIOMAS 6|PGL6 OMIM:618464 owl:Class MONDO:0018724 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN242161|Orphanet:459070 owl:Class MONDO:0002851 biolink:NamedThing mediastinum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma (disease) of mediastinum|rhabdomyosarcoma of the mediastinum|mediastinal rhabdomyosarcoma|mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma of mediastinum NCIT:C6617|DOID:4049|UMLS:C1334677 owl:Class MONDO:0006657 biolink:NamedThing apparent mineralocorticoid excess syndrome An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. tmpak2llvmy_mondo_relaxed.owl syndrome of apparent mineralocorticoid Excess DOID:4367|SCTID:237770005|NCIT:C123231|MESH:D043204|ICD9:255.3|UMLS:C0342488|EFO:1000817 owl:Class MONDO:0014743 biolink:NamedThing rhizomelic chondrodysplasia punctata type 5 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene. tmpak2llvmy_mondo_relaxed.owl RCDP5|rhizomelic chondrodysplasia punctata type 5|PEX5 rhizomelic chondrodysplasia punctata|Rcdp5|rhizomelic chondrodysplasia punctata, type 5|rhizomelic chondrodysplasia punctata caused by mutation in PEX5 DOID:0110854|UMLS:C4225237|OMIM:616716|Orphanet:468717 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0014218 biolink:NamedThing severe dermatitis-multiple allergies-metabolic wasting syndrome tmpak2llvmy_mondo_relaxed.owl congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|severe dermatitis, multiple allergies, and metabolic wasting syndrome|Sam syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE|EPKHE|SAM syndrome UMLS:C3809719|ICD10:Q82.8|OMIM:615508|Orphanet:369992 owl:Class UBERON:0022279 biolink:NamedThing strand of hair on external ear tmpak2llvmy_mondo_relaxed.owl hair of tragus|hair of external ear|tragus hair owl:Class HGNC:17009 biolink:NamedThing TRIOBP tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011514 biolink:NamedThing Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023320 peter 2012-04-06T06:00:34Z human_phenotype owl:Class HP:0000504 biolink:NamedThing Abnormality of vision Abnormality of eyesight (visual perception). tmpak2llvmy_mondo_relaxed.owl Vision issue|Abnormality of vision|Abnormality of sight UMLS:C4025846 human_phenotype owl:Class MONDO:0000509 biolink:NamedThing non-syndromic intellectual disability An intellectual disability that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated intellectual disability|nonsyndromic intellectual disability DOID:0050889 owl:Class UBERON:0006646 biolink:NamedThing muscle layer of epididymis A muscle layer that is part of a epididymis. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0009797 biolink:NamedThing Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:575006|UMLS:C0008373|SNOMEDCT_US:363668000|MSH:D002781 peter 2009-02-11T05:20:04Z human_phenotype owl:Class HP:0008609 biolink:NamedThing Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. tmpak2llvmy_mondo_relaxed.owl Middle ear malformation|Morphological abnormality of the middle ear UMLS:C1857456 human_phenotype owl:Class MONDO:0001048 biolink:NamedThing orbital granuloma A granuloma located on the orbit of the eye. tmpak2llvmy_mondo_relaxed.owl UMLS:C0155262|ICD9:376.11|SCTID:72776003|ICD10:H05.11|DOID:10499 owl:Class MONDO:0001849 biolink:NamedThing chronic orbital inflammation tmpak2llvmy_mondo_relaxed.owl chronic inflammation of orbit ICD9:376.10|UMLS:C0155261|DOID:1397|SCTID:44729001|ICD9:376.1|ICD10:H05.1 owl:Class MONDO:0043170 biolink:NamedThing Pavone Fiumara Rizzo syndrome tmpak2llvmy_mondo_relaxed.owl syndactyly type 1 with cataracts and intellectual disability|syndactyly type 1 with cataracts and mental retardation|Pavone Fiumara Rizzo syndrome UMLS:C2931172|GARD:0004262|MESH:C536313 owl:Class MONDO:0018727 biolink:NamedThing immunodeficiency due to a complement regulatory deficiency tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:459348 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class GO:0048864 biolink:NamedThing stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006862 biolink:NamedThing diaphysis of femur A diaphysis that is part of a femur[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl femoral shaft|femoral diaphysis|body of femur|corpus femoris|shaft of femur owl:Class MONDO:0019920 biolink:NamedThing paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpak2llvmy_mondo_relaxed.owl paternal uniparental disomy of chromosome type 5|UPD(5)pat ICD10:Q99.8|Orphanet:96190 owl:Class UBERON:0013479 biolink:NamedThing lung endothelium A blood vessel endothelium that is part of a lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl respiratory endothelium owl:Class MONDO:0006526 biolink:NamedThing allergic urticaria A urticaria with a basis in a pathological type I hypersensitivity reaction. tmpak2llvmy_mondo_relaxed.owl allergic form of urticaria (disease)|allergic form of urticaria|allergic urticaria (disease) Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|UMLS:C0149526|ICD10:L50.0|SCTID:40178009|ICD9:708.0|EFO:1000669 owl:Class GO:0098840 biolink:NamedThing protein transport along microtubule The directed movement of a protein along a microtubule, mediated by motor proteins. tmpak2llvmy_mondo_relaxed.owl microtubule-based protein transport owl:Class GO:0010970 biolink:NamedThing transport along microtubule The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. tmpak2llvmy_mondo_relaxed.owl microtubule-based transport|establishment of localization by movement along microtubule|movement along microtubule owl:Class CHEBI:33892 biolink:NamedThing iron coordination entity tmpak2llvmy_mondo_relaxed.owl iron coordination entities|iron coordination compounds|iron coordination entity owl:Class UBERON:0035096 biolink:NamedThing fascia of tail tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:22501 biolink:NamedThing aminodiol An amino alcohol having two hydroxy functional groups. tmpak2llvmy_mondo_relaxed.owl amino diols|aminodiols|amino diol owl:Class UBERON:0005856 biolink:NamedThing developing mesenchymal condensation A delimited region of dense mesenchyme within looser mesenchyme. tmpak2llvmy_mondo_relaxed.owl mesenchyme condensation owl:Class MONDO:0007359 biolink:NamedThing commissural lip pits tmpak2llvmy_mondo_relaxed.owl commissural lip pits SCTID:109550008|OMIM:120500 owl:Class UBERON:0001189 biolink:NamedThing left testicular artery A testicular artery that supplies a left testicle. tmpak2llvmy_mondo_relaxed.owl left spermatic artery|trunk of left testicular arterial tree owl:Class MONDO:0013286 biolink:NamedThing immunodeficiency, common variable, 6 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency, common variable, type 6|antibody deficiency due to CD81 defect|CD81 common variable immunodeficiency|common variable immunodeficiency caused by mutation in CD81|immunodeficiency, common variable, 6|CVID6 UMLS:C3150741|OMIM:613496 owl:Class NCBITaxon:318479 biolink:NamedThing Dracunculus medinensis tmpak2llvmy_mondo_relaxed.owl dracunculiasis worm|Guinea worm|Guinea worm disease nematode GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:318478 biolink:NamedThing Dracunculus tmpak2llvmy_mondo_relaxed.owl Dracunculus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012038 biolink:NamedThing speech-sound disorder tmpak2llvmy_mondo_relaxed.owl SSD|speech-sound disorder MESH:C563928|OMIM:608445|UMLS:C4078288 owl:Class MONDO:0032870 biolink:NamedThing intellectual developmental disorder with short stature and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES|IDDSSBA DOID:0111674|OMIM:618687 owl:Class MONDO:0007853 biolink:NamedThing palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome tmpak2llvmy_mondo_relaxed.owl keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy|axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy OMIM:148360|Orphanet:538574|MESH:C536153 owl:Class MONDO:0017563 biolink:NamedThing congenital patella dislocation, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295237 owl:Class MONDO:0004103 biolink:NamedThing tall cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. tmpak2llvmy_mondo_relaxed.owl tall cell variant thyroid gland papillary carcinoma|tall cell variant papillary carcinoma DOID:7089|NCIT:C35558|UMLS:C1336695 owl:Class MONDO:0019176 biolink:NamedThing trichorhinophalangeal syndrome type I or III Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. tmpak2llvmy_mondo_relaxed.owl trichorhinophalangeal syndrome type 1 and 3 Orphanet:77258|ICD10:Q87.1|UMLS:CN205736 owl:Class MONDO:0017951 biolink:NamedThing trichorhinophalangeal syndrome tmpak2llvmy_mondo_relaxed.owl TRPS SCTID:18077009|UMLS:C0265255|ICD9:759.89|Orphanet:324764|ICD10:Q87.8|OMIMPS:190350 owl:Class UBERON:0016538 biolink:NamedThing temporal cortex Gray matter of the temporal region of the neocortex, located in the temporal lobe in gyrencephalic animals tmpak2llvmy_mondo_relaxed.owl temporal lobe cortex|temporal neocortex|cortex of temporal lobe|gray matter of temporal lobe owl:Class GO:0015870 biolink:NamedThing acetylcholine transport The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901374 biolink:NamedThing acetate ester transport The directed movement of an acetate ester into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904256 biolink:NamedThing positive regulation of iron ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl up-regulation of iron cation channel activity|up-regulation of iron-specific channel activity|positive regulation of iron cation channel activity|positive regulation of iron channel activity|activation of iron-specific channel activity|up-regulation of iron channel activity|upregulation of iron cation channel activity|up regulation of iron channel activity|up regulation of iron cation channel activity|up regulation of iron-specific channel activity|activation of iron cation channel activity|positive regulation of iron-specific channel activity|activation of iron channel activity|positive regulation of iron transmembrane transporter activity|upregulation of iron-specific channel activity|upregulation of iron channel activity owl:Class HP:0010549 biolink:NamedThing Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. tmpak2llvmy_mondo_relaxed.owl Paralysis due to lesions of the principle motor tracts UMLS:C4021255 peter 2009-10-01T08:30:25Z human_phenotype owl:Class MONDO:0018251 biolink:NamedThing glycogen storage disease due to phosphorylase kinase deficiency Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. tmpak2llvmy_mondo_relaxed.owl GSDIX|GSD type IX|glycogen storage disease IX|GSD due to phosphorylase kinase deficiency|gycogenosis due to PhK deficiency|GSD IX|GSD type 9|glycogen storage disease type 9|glycogen storage disease due to PhK deficiency|glycogen storage disease type IX|glycogenosis due to phosphorylase kinase deficiency|glycogenosis type 9|phosphorylase kinase deficiency|glycogenosis type IX 2022-03-01 SCTID:40191005|SCTID:235908005|ICD10:E74.0|MESH:C580130|UMLS:C0268147|Orphanet:370|NCIT:C122662|DOID:0050594 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class MONDO:0018316 biolink:NamedThing fatal post-viral neurodegenerative disorder tmpak2llvmy_mondo_relaxed.owl ICD10:G04.8|Orphanet:391343|UMLS:CN204961 owl:Class CL:0000314 biolink:NamedThing milk secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000072 biolink:NamedThing non-branched duct epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000068 biolink:NamedThing duct epithelial cell An epithelial cell that is part of a duct. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0009070 biolink:NamedThing serine family amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpak2llvmy_mondo_relaxed.owl serine family amino acid synthesis|serine family amino acid biosynthesis|serine family amino acid formation|serine family amino acid anabolism owl:Class GO:0009069 biolink:NamedThing serine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpak2llvmy_mondo_relaxed.owl serine family amino acid metabolism owl:Class MONDO:0000706 biolink:NamedThing chemical colitis A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically. tmpak2llvmy_mondo_relaxed.owl ICD9:558|ICD9:558.9|SCTID:72965009|DOID:0060186|ICD10:K52 owl:Class GO:0001960 biolink:NamedThing negative regulation of cytokine-mediated signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytokine mediated signalling pathway|inhibition of cytokine mediated signaling pathway|down regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway owl:Class MONDO:0008799 biolink:NamedThing anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. tmpak2llvmy_mondo_relaxed.owl anophthalmia microphthalmia esophageal atresia|syndromic microphthalmia, type 3|SOX2 anophthalmia syndrome|anophthalmia, clinical, with associated anomalies|Aeg syndrome|anophthalmia-esophageal-genital syndrome|syndromic microphthalmia type 3|MCOPS3|microphthalmia and esophageal atresia syndrome|optic nerve hypoplasia and abnormalities of the central nervous system|anophthalmia clinical with associated anomalies|microphthalmia, syndromic 3|microphthalmia, syndromic type 3|anophthalmia/microphthalmia-esophageal atresia syndrome|anophthalmia esophageal genital syndrome|SOX2-related eye disorders ICD10:Q87.8|SCTID:698851003|Orphanet:77298|ICD9:758.5|OMIM:206900|GARD:0001443 owl:Class MONDO:0019827 biolink:NamedThing disease associated with non-acquired combined pituitary hormone deficiency tmpak2llvmy_mondo_relaxed.owl secondary non-acquired combined pituitary hormone deficiency 2022-03-01 UMLS:CN206775|Orphanet:95495 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: non-acquired combined pituitary hormone deficiency' MONDO_0018762 owl:Class MONDO:0005715 biolink:NamedThing congenital toxoplasmosis Toxoplasma infection that is present from birth. tmpak2llvmy_mondo_relaxed.owl Toxoplasma embryofetopathy|congenital toxoplasmosis|toxoplasmosis - congen.|Toxoplasma embryopathy|mother-to-child transmission of toxoplasmosis|toxoplasmosis, congenital Orphanet:858|ICD10:P37.1|ICD9:771.2|EFO:0007220|DOID:13336|SCTID:73893000|NCIT:C50503|GARD:0010326|UMLS:C0040560|MESH:D014125|MedDRA:10010652 owl:Class MONDO:0013161 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|LGMD2O|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|muscular dystrophy, limb-girdle, type 2O|LGMD-POMGNT1 related|MDDGC3|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|limb-girdle muscular dystrophy type 2O|POMGNT1 autosomal recessive limb-girdle muscular dystrophy UMLS:C3150417|DOID:0110292|Orphanet:206564|ICD10:G71.0|OMIM:613157|GARD:0012540 owl:Class MONDO:0010518 biolink:NamedThing Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. tmpak2llvmy_mondo_relaxed.owl Wiskott Aldrich syndrome|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|eczema thrombocytopenia immunodeficiency syndrome|Imd 2|Wiskott syndrome|Wiskott-Aldrich syndrome|WAS|Wiskott-Aldrich syndrome 1|Aldrich syndrome UMLS:C0043194|MedDRA:10047992|GARD:0007895|OMIM:301000|DOID:9169|SCTID:36070007|MESH:D014923|ICD9:279.12|Orphanet:906|ICD10:D82.0|NCIT:C3448 https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome owl:Class MONDO:0009805 biolink:NamedThing osteogenesis imperfecta type 9 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in PPIB|osteogenesis imperfecta type IX|osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|OI 9|osteogenesis imperfecta type 9|PPIB osteogenesis imperfecta|OI type IX|OI9|OI, type 9|osteogenesis imperfecta, type IX|osteogenesis imperfecta, type 9 OMIM:259440|GARD:0010619|ICD10:Q78.0|DOID:0110349|MESH:C564921 owl:Class HGNC:24475 biolink:NamedThing DMGDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001408 biolink:NamedThing ischemic neuropathy Neuropathy that is caused by inadequate blood supply. tmpak2llvmy_mondo_relaxed.owl ischemic peripheral neuropathy ICD9:356.9|NCIT:C27025|UMLS:C0238309|DOID:1195|SCTID:129611009 owl:Class HGNC:804 biolink:NamedThing ATP1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008000 biolink:NamedThing non-striated muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006036 biolink:NamedThing granulosa cell tumor A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. tmpak2llvmy_mondo_relaxed.owl granulosa cell tumor, undetermined|GRCT|granulosa cell tumour, sarcomatoid|tumor of granulosa cell|granulosa cell neoplasm (disease)|granulosa cell tumor, adult type|granulosa cell tumor, adult type (morphologic abnormality)|neoplasm of granulosa cell|granulosa cell tumor|granulosa cell neoplasm NCIT:C3070|DOID:2999|ONCOTREE:GRCT|EFO:1000032|UMLS:C0018206|MESH:D006106 owl:Class MONDO:0022895 biolink:NamedThing craniosynostosis cleft lip palate arthrogryposis tmpak2llvmy_mondo_relaxed.owl GARD:0001590 https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis owl:Class MONDO:0013307 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 2 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. tmpak2llvmy_mondo_relaxed.owl MLASA2|myopathy, lactic acidosis, and sideroblastic Anemia type 2|myopathy, lactic acidosis, and sideroblastic anemia 2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|YARS2 mitochondrial myopathy and sideroblastic anemia DOID:0111186|OMIM:613561|UMLS:C3150802 owl:Class MONDO:0000863 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy and sideroblastic anemia|myopathy with lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis, and siderblastic anemia|MSA|MLASA|sideroblastic anemia and mitochondrial myopathy DOID:0080099|SCTID:724138007|GARD:0003885|UMLS:CN220387|OMIMPS:600462|Orphanet:2598|MESH:C536101|ICD10:G71.3 owl:Class MONDO:0007407 biolink:NamedThing Cryoglobulinemic vasculitis Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. tmpak2llvmy_mondo_relaxed.owl essential cryoglobulinemia|MC|Meltzer syndrome|primary cryoglobulinemia|cryoglobulinemia, familial mixed|mixed cryoglobulinemia|familial mixed cryoglobulinemia|essential mixed cryoglobulinemia MedDRA:10027756|ICD10:D89.1|GARD:0006386|UMLS:C1852456|UMLS:C0340992|Orphanet:91138|OMIM:123550|SCTID:190815001|UMLS:C0272258|MESH:C565141|UMLS:C0343208|ICD9:273.2 owl:Class UBERON:0010402 biolink:NamedThing epidermis suprabasal layer Any layer of the epidermis that is superior to the stratum basale tmpak2llvmy_mondo_relaxed.owl suprabasal layer|suprabasal layer of epidermis|suprabasal cell layer of skin owl:Class MONDO:0003768 biolink:NamedThing signet ring cell variant cervical mucinous adenocarcinoma A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. tmpak2llvmy_mondo_relaxed.owl cervical mucinous adenocarcinoma, signet Ring cell variant|signet ring mucinous carcinoma|cervical mucinous adenocarcinoma, signet Ring cell type DOID:6101|ONCOTREE:SCEMU|NCIT:C40205|UMLS:C1516424 owl:Class UBERON:0015010 biolink:NamedThing sacral vertebra endochondral element A vertebra endochondral element that is part of the sacral region of the vertebral column. tmpak2llvmy_mondo_relaxed.owl sacral vertebra skeletal element|sacral vertebra element owl:Class MONDO:0032715 biolink:NamedThing intellectual developmental disorder, autosomal recessive 69 tmpak2llvmy_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69|MRT69 OMIM:618383 owl:Class MONDO:0006010 biolink:NamedThing salmonid viral hemorrhagic septicemia A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus), tmpak2llvmy_mondo_relaxed.owl UMLS:C1135869|MESH:D031941|EFO:0007539 owl:Class MONDO:0005944 biolink:NamedThing Rhabdoviridae infectious disease Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. tmpak2llvmy_mondo_relaxed.owl Rhabdoviridae infection|infections, Rhabdoviridae|infection, Rhabdoviridae EFO:0007469|UMLS:C0206751|MESH:D018353 owl:Class MONDO:0015758 biolink:NamedThing primary cutaneous T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl GARD:0006226|Orphanet:171901|ICD10:C84.8|MedDRA:10011677 owl:Class MONDO:0024620 biolink:NamedThing meningitis caused by poliovirus tmpak2llvmy_mondo_relaxed.owl polio virus meningitis|meningitis caused by human poliovirus UMLS:C4303134|SCTID:721765009 owl:Class MONDO:0024618 biolink:NamedThing poliovirus infection An disease or disorder caused by infection with Enterovirus C. tmpak2llvmy_mondo_relaxed.owl Enterovirus C infectious disease|Enterovirus C caused disease or disorder|human poliovirus infection|infection caused by human poliovirus|Enterovirus C disease or disorder UMLS:C4303135|SCTID:721764008 Editor note: TODO placeholder class for poliovirus in NCIT owl:Class HGNC:2600 biolink:NamedThing CYP21A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012373 biolink:NamedThing ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features OMIM:609944|MESH:C536182|GARD:0009939|UMLS:C1864966 https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features owl:Class MONDO:0002083 biolink:NamedThing Richter syndrome Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. tmpak2llvmy_mondo_relaxed.owl Richter's syndrome|Richter syndrome|Richter's transformation|Richter transformation DOID:1703|SCTID:277550009|ICD10:C91.1|UMLS:C0349631|GARD:0007578|NCIT:C35424 owl:Class MONDO:0005602 biolink:NamedThing ovarian teratoma A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpak2llvmy_mondo_relaxed.owl germ cell teratoma of the ovary|teratoma of ovary|germ cell teratoma of ovary|ovarian germ cell teratoma|ovarian teratoma|teratoma of the ovary NCIT:C8110|DOID:5567|UMLS:C0280131|SCTID:716077006|EFO:0006463 owl:Class MONDO:0025488 biolink:NamedThing leukemia, feline A neoplastic disease of cats frequently associated with feline leukemia virus infection. tmpak2llvmy_mondo_relaxed.owl Feline leukemia|Feline leukemias|leukemias, Feline UMLS:C0085164|MESH:D016582 owl:Class NCBITaxon:35793 biolink:NamedThing Rickettsia sibirica tmpak2llvmy_mondo_relaxed.owl PMID:17114787|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:266068 biolink:NamedThing Rickettsia sibirica subgroup tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class CHEBI:48705 biolink:NamedThing agonist Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. tmpak2llvmy_mondo_relaxed.owl agoniste|agonista|agonists|agonist owl:Class MONDO:0009179 biolink:NamedThing recessive dystrophic epidermolysis bullosa Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. tmpak2llvmy_mondo_relaxed.owl recessive dystrophic epidermolysis bullosa, severe generalized|severe generalized recessive dystrophic epidermolysis bullosa|RDEB generalisata gravis|dystrophic epidermolysis bullosa, autosomal recessive|RDEB|epidermolysis bullosa dystrophica, autosomal recessive|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|severe generalized RDEB|epidermolysis bullosa dystrophica inversa, autosomal recessive|RDEB, Hallopeau-Siemens type|RDEB, severe generalized|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|RDEB-sev gen|epidermolysis bullosa dystrophica, Hallopeau-Siemens type OMIM:226600|GARD:0006308|ICD9:757.39|ICD10:Q81.2|DOID:0060642|SCTID:48528004|Orphanet:79408 owl:Class ECTO:0000001 biolink:NamedThing exposure to radiation A exposure event involving the interaction of an exposure receptor to radiation. tmpak2llvmy_mondo_relaxed.owl radiation exposure owl:Class GO:1905030 biolink:NamedThing voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpak2llvmy_mondo_relaxed.owl voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential owl:Class CHEBI:50905 biolink:NamedThing teratogenic agent A role played by a chemical compound in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect. tmpak2llvmy_mondo_relaxed.owl agent teratogene|teratogeno|teratogen owl:Class CHEBI:52209 biolink:NamedThing aetiopathogenetic role A role played by the molecular entity or part thereof which causes the development of a pathological process. tmpak2llvmy_mondo_relaxed.owl etiopathogenetic agent|etiopathogenetic role owl:Class MONDO:0003383 biolink:NamedThing fallopian tube clear cell adenocarcinoma A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. tmpak2llvmy_mondo_relaxed.owl fallopian tube clear cell carcinoma|clear cell adenocarcinoma of fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of fallopian tube|clear cell adenocarcinoma of the fallopian tube|clear cell carcinoma of the fallopian tube DOID:5301|NCIT:C6280|UMLS:C1333591 owl:Class MONDO:0010683 biolink:NamedThing X-linked centronuclear myopathy X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpak2llvmy_mondo_relaxed.owl myotubular myopathy 1|XLMTM|centronuclear myopathy, X-linked|X-linked myotubular myopathy|myopathy, centronuclear, X-linked|myotubular myopathy, X-linked|MTM|XLCNM|X-linked centronuclear myopathy|CNMX SCTID:46804001|OMIM:310400|UMLS:C0410203|NCIT:C118781|GARD:0011925|DOID:0111225|Orphanet:596|ICD10:G71.2 owl:Class MONDO:0020073 biolink:NamedThing adolescent-onset epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:98260|ICD10:G40.4|UMLS:CN206977 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0012381 biolink:NamedThing hyperinsulinism due to INSR deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to insulin receptor deficiency|hyperinsulinemic hypoglycemia, familial, 5|hyperinsulinemic hypoglycemia due to INSR deficiency|HHF5|hyperinsulinemic hypoglycemia, familial, type 5 Orphanet:263458|SCTID:721235003|DOID:0070220|OMIM:609968|MESH:C566494|ICD10:E16.1|UMLS:C1864952 owl:Class MONDO:0001577 biolink:NamedThing respiratory syncytial virus infectious disease Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. tmpak2llvmy_mondo_relaxed.owl Human respiratory syncytial virus infection|infections, Human respiratory syncytial virus|respiratory syncytial virus infection UMLS:C0035235|EFO:1001413|SCTID:55735004|NCIT:C3354|MESH:D018357|DOID:1273 owl:Class MONDO:0002698 biolink:NamedThing testicular gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. tmpak2llvmy_mondo_relaxed.owl testicular gonadoblastoma (disease)|gonadoblastoma of testis|testicular gonadoblastoma|testis gonadoblastoma testicular gonadoblastoma (disease) NCIT:C39911|HP:0000030|DOID:3579|UMLS:C1515283 owl:Class UBERON:0003230 biolink:NamedThing epithelium of carpal region An epithelium that is part of a wrist [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl carpal region epithelium|wrist epithelial tissue|epithelial tissue of carpal region|epithelial tissue of wrist|epithelium of wrist|wrist epithelium|carpal region epithelial tissue owl:Class HGNC:7871 biolink:NamedThing NONO tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5465 biolink:NamedThing IGF1R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021253 biolink:NamedThing gallbladder neoplasm A neoplasm (disease) that involves the gall bladder. tmpak2llvmy_mondo_relaxed.owl tumor of gall bladder|tumor of gallbladder|neoplasm of gallbladder|gall bladder tumor|neoplasm of gall bladder|gallbladder tumor|gall bladder neoplasm (disease)|gall bladder neoplasm|tumor of the gallbladder|neoplasm of the gallbladder NCIT:C3048|UMLS:C0016978 owl:Class GO:0034101 biolink:NamedThing erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. tmpak2llvmy_mondo_relaxed.owl RBC homeostasis|red blood cell homeostasis owl:Class GO:0002262 biolink:NamedThing myeloid cell homeostasis The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002437 biolink:NamedThing cerebral hemisphere white matter White matter that is part of a cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl hemisphere white matter|cerebral hemisphere white matter|substantia medullaris cerebri|region of cerebral white matter|cerebral white matter|white matter structure of cerebral hemisphere owl:Class GO:0048232 biolink:NamedThing male gamete generation Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014646 biolink:NamedThing Zimmermann-Laband syndrome 2 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. tmpak2llvmy_mondo_relaxed.owl Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|Zimmermann-Laband syndrome type 2|ATP6V1B2 Zimmermann-Laband syndrome|ZLS2|Zimmermann-Laband syndrome 2 UMLS:C4225321|OMIM:616455 owl:Class PATO:0001154 biolink:NamedThing elongated A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019661 biolink:NamedThing Pfeiffer syndrome type 3 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.0|Orphanet:93260|UMLS:CN206535 owl:Class MONDO:0007043 biolink:NamedThing Pfeiffer syndrome Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. tmpak2llvmy_mondo_relaxed.owl craniofacial-skeletal-Dermatologic dysplasia|Pfeiffer type acrocephalosyndactyly|acrocephalosyndactyly, type 5|acrocephalosyndactylia type V|ACS5|ACS 5|acrocephalosyndactyly type 5|type V Acrocephalosyndactyly|Pfeiffer syndrome|acrocephalosyndactyly type V|Noack syndrome DOID:14705|GARD:0007380|ICD10:Q87.0|SCTID:70410008|UMLS:C0220658|NCIT:C99100|OMIM:101600|Orphanet:710 https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome owl:Class GO:0051952 biolink:NamedThing regulation of amine transport Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002116 biolink:NamedThing malignant exocrine pancreas neoplasm A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the exocrine pancreas|malignant tumor of the exocrine pancreas|pancreatic exocrine tumor|cancer of exocrine pancreas|exocrine pancreas cancer|malignant neoplasm of exocrine pancreas|malignant exocrine pancreas neoplasm|malignant tumor of exocrine pancreas|tumor of exocrine pancreas|malignant exocrine pancreas tumor DOID:1795|UMLS:C0346648|NCIT:C7430|SCTID:255088001 owl:Class CHEBI:38104 biolink:NamedThing oxacycle Any organic heterocyclic compound containing at least one ring oxygen atom. tmpak2llvmy_mondo_relaxed.owl organooxygen heterocyclic compounds|heterocyclic organooxygen compounds|oxacycles owl:Class MONDO:0009429 biolink:NamedThing hypophosphatemia, renal, with intracerebral calcifications tmpak2llvmy_mondo_relaxed.owl hypophosphatemia, renal, with intracerebral calcifications MESH:C565478|UMLS:C1855809|OMIM:241519 owl:Class HGNC:29685 biolink:NamedThing IARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006648 biolink:NamedThing adventitia of seminal vesicle An adventitia that is part of a seminal vesicle. tmpak2llvmy_mondo_relaxed.owl tunica adventitia (vesicula seminalis)|adventitia of seminal gland|seminal vesicle adventitia|tunica adventitia glandulae vesiculosae owl:Class ENVO:01001780 biolink:NamedThing desert ecosystem An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004973 biolink:NamedThing adenosquamous lung carcinoma An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. tmpak2llvmy_mondo_relaxed.owl adenosquamous cell lung carcinoma|adenosquamous lung cancer|lung adenosquamous carcinoma|adenosquamous lung carcinoma NCIT:C9133|ONCOTREE:LUAS|DOID:4829|ICD9:162.9|EFO:0000233|UMLS:C0279557|SCTID:707405009 owl:Class MONDO:0056806 biolink:NamedThing non-small cell squamous lung carcinoma A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl non-small cell squamous lung cancer|squamous non-small cell lung carcinoma|non-small cell squamous lung carcinoma SCTID:723301009|NCIT:C133254|DOID:0080521 owl:Class MONDO:0018417 biolink:NamedThing autosomal recessive spastic paraplegia type 60 tmpak2llvmy_mondo_relaxed.owl SPG60 UMLS:CN226122|Orphanet:401800|ICD10:G11.4 owl:Class HGNC:9008 biolink:NamedThing PKD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010485 biolink:NamedThing X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. tmpak2llvmy_mondo_relaxed.owl microphthalmia, syndromic 13|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|Maine microphthalmos|X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|MCOPS13|microphthalmia, syndromic type 13 OMIM:300915|ICD10:Q87.0|Orphanet:431140|UMLS:C3806742 owl:Class MONDO:0006078 biolink:NamedThing AIDS-related primary central nervous system lymphoma A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. tmpak2llvmy_mondo_relaxed.owl AIDS related primary central nervous system lymphoma|AIDS related primary CNS lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS related lymphoma of primary central nervous system|AIDS-related lymphoma of primary central nervous system|AIDS-related primary CNS lymphoma|AIDS-related lymphoma of the primary central nervous system EFO:1000077|UMLS:C0281241|NCIT:C8284 owl:Class MONDO:0012015 biolink:NamedThing nystagmus 3, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl NYSTAGMUS 3, congenital, autosomal dominant|NYS3 MESH:C537855|OMIM:608345|GARD:0009600|UMLS:C1842186 owl:Class UBERON:0002443 biolink:NamedThing choroidal blood vessel A blood vessel that is part of a choroid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl choroidea blood vessel|choroid coat blood vessel|blood vessel of choroid coat|blood vessel of posterior uvea|set of choroid blood vessels|posterior uvea blood vessel|choroid blood vessels|blood vessel of choroidea|blood vessel of choroid|choroid blood vessel|choroid blood vessels set|vasa sanguinea choroideae owl:Class MONDO:0015830 biolink:NamedThing partial bilateral aplasia of the mullerian ducts tmpak2llvmy_mondo_relaxed.owl partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts Orphanet:180068|ICD10:Q51.8 owl:Class MONDO:0019128 biolink:NamedThing mullerian aplasia tmpak2llvmy_mondo_relaxed.owl aplasia of the Mullerian ducts|Mullerian duct failure|Müllerian duct failure|Müllerian aplasia|aplasia of the Müllerian ducts SCTID:253828000|MESH:C537371|Orphanet:73217 owl:Class CHEBI:76042 biolink:NamedThing aromatic amino-acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. tmpak2llvmy_mondo_relaxed.owl aromatic amino-acid zwitterions|an aromatic amino-acid owl:Class MONDO:0018281 biolink:NamedThing congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. tmpak2llvmy_mondo_relaxed.owl CMDH ICD10:G71.2|Orphanet:371007|SCTID:763314009 owl:Class NCBITaxon:34064 biolink:NamedThing Francisellaceae tmpak2llvmy_mondo_relaxed.owl Francisella group PMID:22939414|PMID:16280474|GC_ID:11|PMID:26747442 ncbi_taxonomy owl:Class HGNC:4319 biolink:NamedThing GLI3 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001686 biolink:NamedThing mass of environmental material An object which is composed primarily of an environmental material tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011916 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, axonal, type 2K|Charcot-Marie-Tooth neuropathy axonal type 2K|autosomal recessive axonal CMT4C4|Charcot-Marie-Tooth disease, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|ARCMT2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth disease, autosomal dominant, type 2K|CMT2K UMLS:C1842983|SCTID:725047007|ICD10:G60.0|Orphanet:101097|OMIM:607831|DOID:0110167 owl:Class MONDO:0019299 biolink:NamedThing unclassified genetic skin disorder tmpak2llvmy_mondo_relaxed.owl 2022-01-01 UMLS:CN205933|Orphanet:79385 Reason: out of scope. Term to consider: MONDO_0005093. MONDO:0005093 owl:Class HGNC:7150 biolink:NamedThing MLYCD tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014061 biolink:NamedThing regulation of norepinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine. tmpak2llvmy_mondo_relaxed.owl regulation of noradrenaline secretion owl:Class MONDO:0012821 biolink:NamedThing colorectal cancer, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, 5|CRCS5|colorectal cancer, susceptibility to, on chromosome 10 OMIM:612230 owl:Class MONDO:0018113 biolink:NamedThing isolated plagiocephaly Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry. tmpak2llvmy_mondo_relaxed.owl synostotic plagiocephaly|non-syndromic unicoronal synostosis ICD10:Q67.3|Orphanet:35098 owl:Class UBERON:0003565 biolink:NamedThing hindbrain dura mater A dura mater that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl dura mater of neuraxis of hindbrain|hindbrain dura mater of neuraxis|rhombencephalon dura mater|dura mater of hindbrain owl:Class UBERON:0002092 biolink:NamedThing brain dura mater The fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer. tmpak2llvmy_mondo_relaxed.owl dura mater cranialis|dura mater encephali|cranial dura mater|dura mater of brain owl:Class CL:0002550 biolink:NamedThing fibroblast of the conjunctiva A fibroblast that is part of the conjuctiva of the eye. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:03:44Z cell owl:Class MONDO:0006699 biolink:NamedThing choledocholithiasis Presence or formation of gallstones in the common bile duct. tmpak2llvmy_mondo_relaxed.owl MESH:D042883|MedDRA:10049891|UMLS:C0701818|EFO:1000865|DOID:11755 owl:Class MONDO:0005346 biolink:NamedThing gallstones Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. tmpak2llvmy_mondo_relaxed.owl EFO:0004210|SCTID:235919008|ICD9:574.20|MESH:D042882 owl:Class MONDO:0021895 biolink:NamedThing temporomandibular joint dysfunction syndrome A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. tmpak2llvmy_mondo_relaxed.owl Myofascial pain - dysfunction syndrome of TMJ|TMJ syndrome|Temporomandibular Joint Dysfunction Syndrome|Snapping jaw|temporomandibular joint dysfunction syndrome|Costens Syndrome|Syndrome, Temporomandibular Joint|Costen's complex|Costen's syndrome|Costen's Syndrome|Mandibular dysfunction|Costen Syndrome|TMJPDS - Temporomandibular joint pain dysfunction syndrome|Syndrome, TMJ|Temporomandibular Joint Syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Temporomandibular joint syndrome|Temporomandibular joint pain dysfunction syndrome|Syndrome, Costen's|Joint Syndrome, Temporomandibular|Temporomandibular joint-pain-dysfunction syndrome|TMJ Syndrome MESH:D013706|NCIT:C35066|UMLS:C0039496 owl:Class MONDO:0003868 biolink:NamedThing anterior foramen magnum meningioma A meningioma that affects the anterior foramen magnum. tmpak2llvmy_mondo_relaxed.owl meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum UMLS:C1332302|NCIT:C5281|DOID:6381 owl:Class MONDO:0003109 biolink:NamedThing foramen magnum meningioma A meningioma that affects the foramen magnum. tmpak2llvmy_mondo_relaxed.owl meningioma of Foramen magnum|meningioma (disease) of foramen magnum|meningioma of the Foramen magnum|foramen magnum meningioma (disease) UMLS:C1333630|NCIT:C5280|DOID:4708 owl:Class UBERON:0036990 biolink:NamedThing wall of pharyngotympanic tube tmpak2llvmy_mondo_relaxed.owl pharyngotympanic tube wall owl:Class UBERON:0004935 biolink:NamedThing submucosa of cardia of stomach A submucosa that is part of a cardia of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gastric cardia submucosa|cardial part of stomach submucosa|submucosa of pars cardiaca (gaster)|submucosa of cardial part of stomach|submucosa of stomach cardiac region|pars cardiaca (gaster) submucosa|cardia of stomach submucosa|submucosa of gastric cardia|stomach cardiac region submucosa owl:Class MONDO:0015386 biolink:NamedThing epignathus Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. tmpak2llvmy_mondo_relaxed.owl oropharyngeal teratoma|epignathus (disease)|Epignathus epignathus (disease) UMLS:C0266725|SCTID:31248004|ICD10:D37.0|HP:0030767|Orphanet:141077 owl:Class MONDO:0019500 biolink:NamedThing extragonadal teratoma Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. tmpak2llvmy_mondo_relaxed.owl MedDRA:10043276|SCTID:768937006|Orphanet:883 owl:Class MONDO:0018897 biolink:NamedThing primary cutaneous CD30+ T-cell lymphoproliferative disease tmpak2llvmy_mondo_relaxed.owl primary cutaneous Ki-1+ T-cell lymphoproliferative disease ICD10:C86.6|MedDRA:10065863|Orphanet:541|UMLS:CN205268 owl:Class MONDO:0020722 biolink:NamedThing nephrolithiasis susceptibility caused by SLC26A1 tmpak2llvmy_mondo_relaxed.owl nephrolithiasis, calcium oxalate|CAON|urolithiasis, calcium oxalate UMLS:C1833683|OMIM:167030 owl:Class MONDO:0007252 biolink:NamedThing Gordon syndrome Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. tmpak2llvmy_mondo_relaxed.owl arthrogryposis distal type 3|camptodactyly-cleft palate-clubfoot syndrome|distal arthrogryposis type 3|DA3|Gordon syndrome|distal arthrogryposis type IIA|arthrogryposis, distal, type 3|arthrogryposis multiplex congenita, distal, type 2A|camptodactyly, cleft palate, and clubfoot Orphanet:376|ICD9:579.8|UMLS:C0220666|GARD:0002553|ICD10:Q68.8|SCTID:237850008|OMIM:114300|MESH:C537288 https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome owl:Class CHEBI:33748 biolink:NamedThing nickel molecular entity tmpak2llvmy_mondo_relaxed.owl nickel compounds|nickel molecular entity|nickel molecular entities owl:Class CHEBI:33747 biolink:NamedThing nickel group molecular entity tmpak2llvmy_mondo_relaxed.owl nickel group molecular entity|nickel group molecular entities owl:Class GO:0048863 biolink:NamedThing stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001821 biolink:NamedThing hypoactive sexual desire disorder A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. tmpak2llvmy_mondo_relaxed.owl lack or loss of sexual desire DOID:13868|ICD9:302.71|NCIT:C94337|ICD10:F52.0|SCTID:270903007 owl:Class MONDO:0016883 biolink:NamedThing partial deletion of the short arm of chromosome 1 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 1p|monosomy 1p|loss of chromosome 1p|deletion 1p|1p deletion|chromosome 1p deletion|del(1p)|1p monosomy|partial monosomy 1p|partial deletion of the short arm of chromosome type 1|partial monosomy of the short arm of chromosome 1|partial deletion of chromosome 1p GARD:0003730|MESH:C535591|NCIT:C36501|ICD10:Q93.5|Orphanet:261857|UMLS:C0795796 owl:Class HGNC:7381 biolink:NamedThing MST1R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010546 biolink:NamedThing central incisors, absence of tmpak2llvmy_mondo_relaxed.owl central incisors, absence of OMIM:302400 owl:Class MONDO:0014332 biolink:NamedThing hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency tmpak2llvmy_mondo_relaxed.owl hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency|CA-VA deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|hyperammonemia due to carbonic anhydrase VA deficiency|mitochondrial carbonic anhydrase va deficiency|carbonic anhydrase VA deficiency, hyperammonemia due to|CA5AD OMIM:615751|Orphanet:401948|ICD10:E74.8|UMLS:C3810404|SCTID:764456001|GARD:0013201 owl:Class MONDO:0012783 biolink:NamedThing RFT1-CDG RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 1n|Man5GlcNAc2-PP-Dol flippase deficiency|CDG-In|CDGIN|congenital disorder of glycosylation type In|RFT1-CDG (CDG-In)|CDG syndrome type In|carbohydrate deficient glycoprotein syndrome type In|CDG1N|congenital disorder of glycosylation, type In|CDG in Orphanet:244310|MESH:C567437|SCTID:733084000|OMIM:612015|ICD10:E77.8|GARD:0012394|UMLS:C2677590|DOID:0080566 owl:Class MONDO:0004555 biolink:NamedThing kidney angiomyolipoma An angiomyolipoma arising from the kidney. tmpak2llvmy_mondo_relaxed.owl kidney angiomyolipoma|angiomyolipoma of kidney|renal angiomyolipoma|angiomyolipoma of the kidney|RAML EFO:1000312|SCTID:254921004|ONCOTREE:RAML|NCIT:C3888|DOID:8411|UMLS:C0241961 owl:Class NCBITaxon:12845 biolink:NamedThing Swine influenza virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:35324 biolink:NamedThing unclassified Orthomyxoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0002708 biolink:NamedThing positive regulation of lymphocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|stimulation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity owl:Class MONDO:0004390 biolink:NamedThing ocular hypotension Abnormally low intraocular pressure often related to chronic inflammation (uveitis). tmpak2llvmy_mondo_relaxed.owl hypotony of eye UMLS:C0028841|SCTID:19721008|ICD9:360.3|MESH:D015814|DOID:790|ICD10:H44.4|ICD9:360.30|ICD10:H44.40 owl:Class UBERON:0004475 biolink:NamedThing musculature of hip The collection of muscles that form attachments to the hip skeleton. tmpak2llvmy_mondo_relaxed.owl set of muscles of hip|muscle group of hip|hip musculature owl:Class MONDO:0016505 biolink:NamedThing aldosterone-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. tmpak2llvmy_mondo_relaxed.owl Pure aldosterone-producing adrenocortical carcinoma|aldosterone producing adrenal cortical adenoma|aldosterone-producing adrenal cortex adenoma|adrenocortical carcinoma with pure aldosterone hypersecretion|aldosterone producing adrenal cortex adenoma|APAC|Pure aldosterone-secreting adrenocortical carcinoma|Pure APAC UMLS:C1706762|NCIT:C48451|ICD10:C74.0|Orphanet:231625|EFO:1000015|UMLS:CN226945|MedDRA:10056950|ICD10:E26.0 MONDO:0006023 owl:Class MONDO:0008717 biolink:NamedThing acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. tmpak2llvmy_mondo_relaxed.owl acromesomelic dysplasia, Hunter-Thompson type|acromesomelic dwarfism|acromesomelic dysplasia Hunter Thompson type|AMDH Orphanet:968|GARD:0000506|OMIM:201250|ICD10:Q78.8|DOID:0080051 owl:Class MONDO:0004286 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm|pancreatic IPMN|pancreatic intraductal papillary-mucinous tumor|intraductal papillary mucinous neoplasm|IPMN DOID:7575|ONCOTREE:IPMN|UMLS:C1518869|NCIT:C38342 owl:Class MONDO:0014578 biolink:NamedThing congenital myasthenic syndrome 17 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. tmpak2llvmy_mondo_relaxed.owl LRP4 congenital myasthenic syndrome|congenital myasthenic syndrome type 17|CMS17|myasthenic syndrome, congenital, type 17|congenital myasthenic syndrome caused by mutation in LRP4|myasthenic syndrome, congenital, 17 DOID:0110674|OMIM:616304|UMLS:C4225377 owl:Class UBERON:0011158 biolink:NamedThing primary subdivision of skull The skull can be divided into two: the neurocranium and the facial skeleton tmpak2llvmy_mondo_relaxed.owl subdivision of skull|skull subdivision owl:Class CHEBI:24532 biolink:NamedThing organic heterocyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. tmpak2llvmy_mondo_relaxed.owl organic heterocycle|organic heterocyclic compounds owl:Class MONDO:0000536 biolink:NamedThing pharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal squamous cell carcinoma|pharynx squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma|pharyngeal squam. cell carcinoma DOID:0050921|NCIT:C102872|EFO:1001965|SCTID:408649007|UMLS:C1319317 owl:Class MONDO:0009437 biolink:NamedThing Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. tmpak2llvmy_mondo_relaxed.owl hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|Bamforth-Lazarus syndrome|hypothyroidism-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|Bamforth syndrome|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome DOID:0050655|GARD:0000414|OMIM:241850|Orphanet:1226|ICD10:E03.1|MESH:C537901|SCTID:722375007 owl:Class MONDO:0021137 biolink:NamedThing not rare tmpak2llvmy_mondo_relaxed.owl common owl:Class MONDO:0021135 biolink:NamedThing rare or common tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0010649 biolink:NamedThing isolated congenital megalocornea Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. tmpak2llvmy_mondo_relaxed.owl congenital anterior megalophthalmia|megalocornea|isolated congenital megalocornea|MGC1|Mgcn ICD10:Q15.8|Orphanet:91489|GARD:0012648|OMIM:309300|SCTID:734026006 owl:Class MONDO:0020219 biolink:NamedThing corneogoniodysgenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:98635 owl:Class MONDO:0044349 biolink:NamedThing acquired hemoglobinopathy An instance of hemoglobinopathy that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired hemoglobinopathy UMLS:C1263995|SCTID:127039000 owl:Class GO:0033145 biolink:NamedThing positive regulation of intracellular steroid hormone receptor signaling pathway Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl positive regulation of steroid hormone receptor signaling pathway|positive regulation of steroid hormone receptor signalling pathway owl:Class UBERON:0007724 biolink:NamedThing interphalangeal joint of pedal digit 1 An interphalangeal joint of pes that is part of a pedal digit 1. tmpak2llvmy_mondo_relaxed.owl interphalangeal joint of pedal digit 1|interphalangeal joint of big toe|interphalangeal joint of first digit of pes|interphalangeal joint of first toe|interphalangeal joint of great toe|interphalangeal joint of hallux|interphalangeal joint of pedal digit I|interphalangeal joint of foot digit 1|interphalangeal joint of first digit of foot owl:Class UBERON:0007721 biolink:NamedThing interphalangeal joint of pes The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments. tmpak2llvmy_mondo_relaxed.owl toe joint|interphalangeal joint of foot|foot interphalangeal joint|interphalangeal joint of toe|hindlimb digit inter-phalangeal joint owl:Class HGNC:23246 biolink:NamedThing MYPN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008336 biolink:NamedThing pterygium colli, isolated tmpak2llvmy_mondo_relaxed.owl pterygium colli, isolated MESH:C566741|OMIM:177990|UMLS:C1867442 owl:Class CHEBI:55324 biolink:NamedThing gastrointestinal drug A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion. tmpak2llvmy_mondo_relaxed.owl gastrointestinal agent|gastrointestinal agents|gastrointestinal drugs owl:Class MONDO:0004525 biolink:NamedThing scabies A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. tmpak2llvmy_mondo_relaxed.owl sarcoptic itch|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease|Sarcoptes scabiei caused disease or disorder|infestation by Sarcoptes scabiei|infestation by Sarcoptes scabiei var hominis ICD10:B86|DOID:8295|SCTID:128869009|MESH:D012532|UMLS:C0036262|NCIT:C34998|ICD9:133.0 owl:Class MONDO:0016350 biolink:NamedThing hydrocephalus-blue sclerae-nephropathy syndrome Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. tmpak2llvmy_mondo_relaxed.owl Daentl-Townsend-Siegel syndrome Orphanet:2186|ICD10:Q87.8 owl:Class HGNC:11824 biolink:NamedThing TINF2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061983 biolink:NamedThing meiosis II cell cycle process A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes. tmpak2llvmy_mondo_relaxed.owl second meiotic division owl:Class HGNC:10440 biolink:NamedThing RPS7 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19721 biolink:NamedThing CANT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003775 biolink:NamedThing lateral ventricle meningioma A meningioma that affects the lateral ventricle of the brain. tmpak2llvmy_mondo_relaxed.owl meningioma (disease) of telencephalic ventricle|meningioma of the lateral ventricle|meningioma of lateral ventricle|telencephalic ventricle meningioma (disease) UMLS:C1334380|NCIT:C5302|DOID:6115 owl:Class MONDO:0019402 biolink:NamedThing beta thalassemia Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). tmpak2llvmy_mondo_relaxed.owl erythroblastic anemia|thalassemia, Hispanic gamma-delta-beta|Thalassemias, beta-|Beta thalassemia intermedia|thalassemia major|Beta thalassemia minor MedDRA:10043391|SCTID:65959000|MESH:D017086|Orphanet:848|ICD10:D56.1|ICD9:282.44|GARD:0000871|ICD9:282.49|NCIT:C34375|DOID:12241 owl:Class MONDO:0022769 biolink:NamedThing ciliary dyskinesia-bronchiectasis tmpak2llvmy_mondo_relaxed.owl GARD:0001362 https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis owl:Class MONDO:0006153 biolink:NamedThing colon juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpak2llvmy_mondo_relaxed.owl retention polyp of the colon|juvenile polyp of the colon|colonic retention polyp|colon retention polyp|retention polyp of colon|juvenile polyp of colon|colonic juvenile polyp NCIT:C5518|UMLS:C1333090|EFO:1000185 owl:Class CL:1000706 biolink:NamedThing ureter urothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001117 cell owl:Class CL:1000601 biolink:NamedThing ureteral cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001116 cell owl:Class MONDO:0005998 biolink:NamedThing trombiculiasis Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. tmpak2llvmy_mondo_relaxed.owl Trombiculidae disease or disorder|Trombiculidae infectious disease|Trombiculidae caused disease or disorder EFO:0007526|DOID:8399|MESH:D014323|UMLS:C0041170 owl:Class MONDO:0004389 biolink:NamedThing mite infestation Infestations with arthropods of the subclass acari, superorder Acariformes. tmpak2llvmy_mondo_relaxed.owl MESH:D008924|ICD9:133|SCTID:240885009|ICD10:B88.9|ICD9:133.9|ICD10:B88.0|DOID:7894|UMLS:C0026229 owl:Class MONDO:0033619 biolink:NamedThing myopathy, epilepsy, and progressive cerebral atrophy tmpak2llvmy_mondo_relaxed.owl MEPCA OMIM:619036 owl:Class MONDO:0003776 biolink:NamedThing renal pelvis inverted papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. tmpak2llvmy_mondo_relaxed.owl kidney pelvis inverted papilloma|inverted papilloma of the kidney pelvis|renal pelvis inverted papilloma|inverted papilloma of renal pelvis|inverted papilloma of the renal pelvis|inverted papilloma of kidney pelvis UMLS:C1335751|DOID:6118|NCIT:C6187 owl:Class MONDO:0009508 biolink:NamedThing Lambotte syndrome tmpak2llvmy_mondo_relaxed.owl Lambotte syndrome|microcephaly, holoprosencephaly, and intrauterine Growth retardation UMLS:C1855550|GARD:0008470|OMIM:245552|MESH:C537549 owl:Class GO:0009991 biolink:NamedThing response to extracellular stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002764 biolink:NamedThing urethra squamous cell carcinoma A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. tmpak2llvmy_mondo_relaxed.owl urethral squamous cell carcinoma|urethra squamous cell carcinoma|urethra epidermoid carcinoma|squamous cell carcinoma of urethra|urethral epidermoid carcinoma|USCC|epidermoid carcinoma of the urethra|squamous cell carcinoma of the urethra|epidermoid carcinoma of urethra|urethral squamous cell cancer UMLS:C1336890|ONCOTREE:USCC|NCIT:C6165|DOID:3750 owl:Class MONDO:0021327 biolink:NamedThing carcinoma of urethra A carcinoma that involves the urethra. tmpak2llvmy_mondo_relaxed.owl urethra carcinoma|carcinoma of urethra|urethral cancer|urethral carcinoma|carcinoma of the urethra SCTID:448954003|NCIT:C9106 owl:Class NCBITaxon:2547934 biolink:NamedThing Blastocystidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:42740 biolink:NamedThing Opalinata tmpak2llvmy_mondo_relaxed.owl Slopalinida GC_ID:1 ncbi_taxonomy owl:Class CL:0000740 biolink:NamedThing retinal ganglion cell The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve. tmpak2llvmy_mondo_relaxed.owl ganglion cell of retina|gangliocyte|RGC BTO:0001800|FMA:67765 cell owl:Class GO:0015399 biolink:NamedThing primary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up the solute's concentration gradient, by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction and is powered by a primary energy source, directly using ATP. Primary energy sources known to be coupled to transport are chemical, electrical and solar sources. tmpak2llvmy_mondo_relaxed.owl primary active transporter owl:Class GO:0022804 biolink:NamedThing active transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. tmpak2llvmy_mondo_relaxed.owl permease activity|carrier activity|pump activity|active carrier activity owl:Class UBERON:0004404 biolink:NamedThing distal epiphysis of humerus A distal epiphysis that is part of a humerus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower end of humerus|distal end of humerus owl:Class MONDO:0006730 biolink:NamedThing drug psychosis Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. tmpak2llvmy_mondo_relaxed.owl drug-induced psychotic disorder|drug-induced psychosis MedDRA:10045855|MESH:D011605|SCTID:191483003|DOID:1742|EFO:1000902|ICD9:292.1 owl:Class MONDO:0018965 biolink:NamedThing Alport syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl Alport deafness-nephropathy|Alport's syndrome|Alport syndrome|hereditary nephritis MedDRA:10001843|DOID:10983|OMIMPS:301050|Orphanet:63|NCIT:C34842|ICD10:Q87.8|ICD10:Q87.81|UMLS:C1567741 https://github.com/monarch-initiative/mondo/issues/3367 owl:Class NCBITaxon:12092 biolink:NamedThing Hepatovirus A tmpak2llvmy_mondo_relaxed.owl Hepatitis A virus|HAV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008771 biolink:NamedThing amelogenesis imperfecta type 1G An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, type IG|amelogenesis imperfecta nephrocalcinosis|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta hypoplastic with nephrocalcinosis|enamel-renal syndrome|generalized enamel hypoplasia and renal dysfunction|AIGFS|ers|absent enamel, nephrocalcinosis and apparently normal calcium metabolism|enamel-renal-gingival syndrome|amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta-nephrocalcinosis syndrome|amelogenesis imperfecta and nephrocalcinosis|amelogenesis imperfecta hypoplastic type, IG|enamel renal syndrome|FAM20A amelogenesis imperfecta|amelogenesis imperfecta and gingival fibromatosis syndrome|amelogenesis imperfecta type IG|amelogenesis imperfecta-gingival hyperplasia syndrome|AI1G UMLS:CN200302|MESH:C538241|GARD:0000646|ICD10:K00.5|DOID:0110066|Orphanet:1031|OMIM:614253|OMIM:204690|GARD:0009860|Orphanet:171836|ICD9:520.5|SCTID:109477002 https://github.com/monarch-initiative/mondo/issues/3537 owl:Class MONDO:0001560 biolink:NamedThing hypertrophic pyloric stenosis An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. tmpak2llvmy_mondo_relaxed.owl congenital pyloric stenosis|infantile pyloric stenosis|congenital hypertrophic pyloric stenosis|infantile hypertrophic pyloric stenosis|IHPS|infantile constriction of the pylorus|infantile Hypertrophy of the pylorus|congenital stricture of the pylorus|congenital Hypertrophy of the pylorus|congenital constriction of the pylorus|pyloric stenosis, infantile|congenital or infantile stricture of pylorus|infantile stricture of the pylorus ICD10:Q40.0|DOID:12638|ICD9:750.5|EFO:0004707|SCTID:48644003|MESH:D046248|NCIT:C98952 owl:Class HP:0001660 biolink:NamedThing Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. tmpak2llvmy_mondo_relaxed.owl Common arterial trunk|Persistant truncus arteriosus MSH:D014338|ICD-10:Q20.0|Fyler:0500|UMLS:C4020867|SNOMEDCT_US:58140002|Fyler:500|UMLS:C0041206 human_phenotype owl:Class HP:0011603 biolink:NamedThing Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. tmpak2llvmy_mondo_relaxed.owl UMLS:C0478012 peter 2012-04-08T02:51:09Z human_phenotype owl:Class MONDO:0017995 biolink:NamedThing spondylocostal dysostosis-hypospadias-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:329252|UMLS:CN204201 owl:Class MONDO:0017737 biolink:NamedThing intermediate severe Salla disease tmpak2llvmy_mondo_relaxed.owl Intermediate Salla disease UMLS:CN203640|GARD:0010871|ICD10:E77.8|Orphanet:309331 https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease owl:Class MONDO:0019366 biolink:NamedThing free sialic acid storage disease Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). tmpak2llvmy_mondo_relaxed.owl free sialic acid storage disease MedDRA:10067531|Orphanet:834|ICD10:E77.8|GARD:0010870|MESH:C538523|UMLS:C2931872|UMLS:CN206051|MedDRA:10067529 owl:Class UBERON:0009204 biolink:NamedThing medial nasal process mesenchyme Mesenchyme that is part of a medial nasal prominence. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011772 biolink:NamedThing lower jaw opening An anatomical space that is part of a bone of lower jaw. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35992 biolink:NamedThing penams Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. tmpak2llvmy_mondo_relaxed.owl penams owl:Class MONDO:0012580 biolink:NamedThing hereditary pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. tmpak2llvmy_mondo_relaxed.owl congenital pulmonary alveolar proteinosis|sufactant metabolism dysfunction, pulmonary|pulmonary alveolar proteinosis, congenital|hereditary pulmonary alveolar proteinosis|inborn error of pulmonary surfactant metabolism|congenital PAP GARD:0004582|Orphanet:264675|OMIMPS:265120|MESH:C535832|SCTID:707442002|ICD10:J84.0|UMLS:C2931035 owl:Class MONDO:0019195 biolink:NamedThing hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. tmpak2llvmy_mondo_relaxed.owl Inclusion body myopathy autosomal dominant|inclusion body myopathy type 3|Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|HIBM3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|hereditary inclusion body myopathy type 3|Hereditary inclusion body myopathy type 3|IBM3 Orphanet:79091|UMLS:CN205775|SCTID:724349009|GARD:0009494|ICD10:G71.8 owl:Class HGNC:2705 biolink:NamedThing DCN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9045 biolink:NamedThing PLAG1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4931 biolink:NamedThing HLA-A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003962 biolink:NamedThing Froelich syndrome Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. tmpak2llvmy_mondo_relaxed.owl hypothalamic infantilism-obesity|Frolich's syndrome|sexual infantilism|dystrophia Adiposogenitalis|adiposogenital dystrophy|Babinski-Froelich syndrome|Froehlich syndrome|Launois-Cleret syndrome|Froelich's syndrome|Froelich's adiposity|Adiposodysgenesis|Frohlich syndrome|adiposogenital syndrome|Fröhlich syndrome|Frohlich's syndrome|Froehlich's syndrome GARD:0006463|ICD10:E23.6|ICD9:253.8|NCIT:C34625|DOID:6676|SCTID:62999006 https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome owl:Class MONDO:0018688 biolink:NamedThing anti-p200 pemphigoid tmpak2llvmy_mondo_relaxed.owl EFO:0008597|ICD10:L12.8|Orphanet:454710|UMLS:CN237754 owl:Class UBERON:0009883 biolink:NamedThing medullary ray A renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla. tmpak2llvmy_mondo_relaxed.owl renal medullary ray|Ferrein's pyramid|kidney medullary ray owl:Class MONDO:0043133 biolink:NamedThing microcephaly micropenis convulsions tmpak2llvmy_mondo_relaxed.owl microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia|microcephaly micropenis seizures GARD:0003628|UMLS:C2931525|MESH:C537540 owl:Class MONDO:0006471 biolink:NamedThing tracheal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of trachea|tracheal adenoid cystic carcinoma|adenoid cystic carcinoma of the trachea|trachea adenoid cystic carcinoma UMLS:C0345945|SCTID:254619006|EFO:1000598|DOID:4875|NCIT:C6051 owl:Class MONDO:0007039 biolink:NamedThing neurofibromatosis type 2 A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. tmpak2llvmy_mondo_relaxed.owl neurofibromatosis 2|acoustic schwannomas bilateral|NF2|bilateral acoustic neurofibromatosis|neurofibromatosis, type 2|neurofibromatosis central type|neurofibromatosis type 2|neurofibromatosis, type II|acoustic neurinoma bilateral|neurofibromatosis type II|acoustic neurinoma, bilateral|acoustic neurofibromatosis|acoustic Schwannomas, bilateral|central neurofibromatosis|neurofibromatosis, central type DOID:0111252|ICD9:237.72|OMIM:101000|ICD10:Q85.02|NCIT:C3274|MedDRA:10029271|MedDRA:10000523|UMLS:C0027832|SCTID:92503002|ICD10:Q85.0|Orphanet:637|GARD:0007193 owl:Class MONDO:0000734 biolink:NamedThing Ohdo syndrome and variants tmpak2llvmy_mondo_relaxed.owl Ohdo syndrome|Ohdo blepharophimosis syndrome DOID:0060289 owl:Class HGNC:7432 biolink:NamedThing MTHFD1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034764 biolink:NamedThing remnant of cardiac valve tmpak2llvmy_mondo_relaxed.owl vestigial cardiac valve owl:Class MONDO:0004110 biolink:NamedThing refractory hairy cell leukemia Hairy cell leukemia that is resistant to treatment. tmpak2llvmy_mondo_relaxed.owl refractory hairy cell leukemia|hairy cell leukemia, refractory NCIT:C8030|DOID:711|UMLS:C0279780 Editor note: TODO refractory DP owl:Class MONDO:0018935 biolink:NamedThing hairy cell leukemia Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. tmpak2llvmy_mondo_relaxed.owl leukemic reticuloendotheliosis|hairy cell leukemia|HCL|HCL-C|classic hairy cell leukemia MedDRA:10019053|ONCOTREE:HCL|MedDRA:10019055|UMLS:C0023443|ICD10:C91.40|NCIT:C7402|ICDO:9940/3|DOID:285|GARD:0006560|ICD10:C91.4|ICD9:202.4|Orphanet:58017|MESH:D007943|SCTID:118613001|EFO:1000956 owl:Class MONDO:0011839 biolink:NamedThing Newfoundland cone-rod dystrophy Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene. tmpak2llvmy_mondo_relaxed.owl Newfoundland ROD-cone dystrophy|RLBP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RLBP1|NFRCD DOID:0111015|OMIM:607476|UMLS:C1843815|MESH:C564391 owl:Class MONDO:0017273 biolink:NamedThing autosomal ichthyosis syndrome with fatal disease course tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:281241|UMLS:CN202794 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class MONDO:0044333 biolink:NamedThing alcohol-induced Wernicke-Korsakoff's syndrome A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues. tmpak2llvmy_mondo_relaxed.owl alcohol-induced amnestic syndrome|alcohol-induced Wernicke-Korsakoff's syndrome|alcoholic Korsakoff's psychosis NCIT:C34366 Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this. owl:Class MONDO:0014460 biolink:NamedThing nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia-short stature syndrome|short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ectodermal dysplasia/short stature syndrome|ECTDS UMLS:C4014987|Orphanet:423454|OMIM:616029|ICD10:Q82.8 owl:Class MONDO:0007510 biolink:NamedThing Clouston syndrome Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. tmpak2llvmy_mondo_relaxed.owl hidrotic ectodermal dysplasia, autosomal dominant|ectodermal dysplasia, hidrotic, autosomal dominant|Clouston's syndrome|ectodermal dysplasia, hidrotic, 2|ectodermal dysplasia, hidrotic|Patel Bixler syndrome|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|ectodermal dysplasia, hidrotic, 2, formerly|autosomal dominant hidrotic ectodermal dysplasia|Clouston syndrome|Clouston's hidrotic ectodermal dysplasia|hidrotic ectodermal dysplasia|ED2|ectodermal dysplasia 2, Clouston type|palmoplantar hyperkeratosis and alopecia|Clouston hidrotic ectodermal dysplasia|hidrotic ectodermal dysplasia syndrome OMIM:129500|GARD:0004253|DOID:14693|ICD10:Q82.8|GARD:0002056|SCTID:54209007|Orphanet:189 owl:Class MONDO:0019192 biolink:NamedThing AKT2-related familial partial lipodystrophy tmpak2llvmy_mondo_relaxed.owl familial partial lipodystrophy due to AKT2 mutations|AKT2-related FPLD ICD10:E88.1|UMLS:CN205772|UMLS:CN536246|GARD:0012599|Orphanet:79085 owl:Class UBERON:0002411 biolink:NamedThing clitoris the small, erectile body located at the anterior end of the vulva tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020410 biolink:NamedThing aorto-right ventricular tunnel tmpak2llvmy_mondo_relaxed.owl ICD10:Q20.8|Orphanet:99070 owl:Class GO:1905294 biolink:NamedThing positive regulation of neural crest cell differentiation Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of neural crest cell differentiation|upregulation of neural crest cell differentiation|activation of neural crest cell differentiation|up-regulation of neural crest cell differentiation owl:Class GO:2000738 biolink:NamedThing positive regulation of stem cell differentiation Any process that activates or increases the frequency, rate or extent of stem cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014801 biolink:NamedThing even-plus syndrome tmpak2llvmy_mondo_relaxed.owl epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|even-plus syndrome|EVPLS UMLS:C4225180|OMIM:616854|Orphanet:496751 owl:Class GO:0045723 biolink:NamedThing positive regulation of fatty acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpak2llvmy_mondo_relaxed.owl upregulation of fatty acid biosynthetic process|up regulation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|positive regulation of fatty acid biosynthesis|positive regulation of fatty acid anabolism|up-regulation of fatty acid biosynthetic process|positive regulation of fatty acid formation|stimulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process owl:Class GO:0045923 biolink:NamedThing positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpak2llvmy_mondo_relaxed.owl up-regulation of fatty acid metabolic process|activation of fatty acid metabolic process|positive regulation of fatty acid metabolism|stimulation of fatty acid metabolic process|up regulation of fatty acid metabolic process|upregulation of fatty acid metabolic process owl:Class UBERON:0017672 biolink:NamedThing abdominal viscera A viscus that is part of a abdomen. tmpak2llvmy_mondo_relaxed.owl abdominal viscera|set of abdominal viscera|abdominal viscera set owl:Class MONDO:0013715 biolink:NamedThing amyotrophic lateral sclerosis type 16 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. tmpak2llvmy_mondo_relaxed.owl SIGMAR1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in SIGMAR1|amyotrophic lateral sclerosis 16|amyotrophic lateral sclerosis 16, juvenile|ALS16 OMIM:614373|DOID:0060207|UMLS:C3280587 owl:Class MONDO:0001544 biolink:NamedThing tibial nerve palsy tmpak2llvmy_mondo_relaxed.owl DOID:12529|SCTID:365258000|ICD9:355.8|UMLS:C0154751 Editor note: todo owl:Class MONDO:0004797 biolink:NamedThing mononeuritis of lower limb A mononeuritis simplex that involves the hindlimb. tmpak2llvmy_mondo_relaxed.owl mononeuritis simplex of hindlimb|hindlimb mononeuritis simplex ICD9:355.8|DOID:9473|ICD9:355 owl:Class MONDO:0001418 biolink:NamedThing trachea sarcoma A rare malignant soft tissue neoplasm that arises from the trachea. tmpak2llvmy_mondo_relaxed.owl sarcoma of trachea|trachea sarcoma|tracheal sarcoma|sarcoma of the trachea DOID:12002|UMLS:C1336774|NCIT:C6050 owl:Class UBERON:0005754 biolink:NamedThing rostral part of nephrogenic cord The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016917 biolink:NamedThing partial deletion of the long arm of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 19q|partial monosomy of the long arm of chromosome 19|partial deletion of the long arm of chromosome type 19|partial deletion of chromosome 19q Orphanet:262155|ICD10:Q93.5 owl:Class MONDO:0024276 biolink:NamedThing glandular cell neoplasm tmpak2llvmy_mondo_relaxed.owl glandular cell tumor|glandular cell epithelium neoplasm|glandular cell epithelial neoplasm|glandular cell neoplasm UMLS:C1333820|HP:0031493|NCIT:C7132 owl:Class MONDO:0100175 biolink:NamedThing TTN-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. tmpak2llvmy_mondo_relaxed.owl TTN myopathy|congenital myopathy related to TTN In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013852 biolink:NamedThing hypertrophic cardiomyopathy 21 A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation. tmpak2llvmy_mondo_relaxed.owl CMH21|cardiomyopathy familial hypertrophic 21|cardiomyopathy, familial hypertrophic, 21|hypertrophic cardiomyopathy type 21 UMLS:C3553442|DOID:0110311|OMIM:614676 owl:Class MONDO:0006901 biolink:NamedThing peritoneal neoplasm A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpak2llvmy_mondo_relaxed.owl peritoneum neoplasm (disease)|tumor of peritoneum|peritoneum tumor|peritoneal neoplasm|neoplasm of peritoneum|peritoneum neoplasm SCTID:126865007|MESH:D010534|EFO:1001100|NCIT:C3322|MedDRA:10061344 owl:Class MONDO:0017872 biolink:NamedThing Lujo hemorrhagic fever Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. tmpak2llvmy_mondo_relaxed.owl Zambian hemorrhagic fever DOID:0050202|Orphanet:319213|UMLS:CN203921|UMLS:C4274433|ICD10:A96.8|SCTID:716585008 owl:Class MONDO:0011449 biolink:NamedThing Salla disease Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. tmpak2llvmy_mondo_relaxed.owl sialic acid storage disease|Salla disease|SD|sialuria, Finnish type OMIM:604369|NCIT:C85067|UMLS:C1096903|MedDRA:10067531|ICD10:E77.8|GARD:0004754|SCTID:87074006|Orphanet:309334 https://rarediseases.info.nih.gov/diseases/4754/salla-disease owl:Class NCBITaxon:12080 biolink:NamedThing Human poliovirus 1 tmpak2llvmy_mondo_relaxed.owl Human poliovirus type 1|Poliovirus type 1|poliovirus type 1 PV1|Polio virus 1|PV1|HPV-1|Poliovirus 1 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:138950 biolink:NamedThing Enterovirus C tmpak2llvmy_mondo_relaxed.owl Enterovirus EV-C|Human enterovirus C|Poliovirus GC_ID:1 NCBITaxon:138953 ncbi_taxonomy owl:Class UBERON:0007302 biolink:NamedThing pectoral appendage vasculature A vasculature that is part of a pectoral appendage. tmpak2llvmy_mondo_relaxed.owl pectoral fin vasculature owl:Class MONDO:0020771 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy tmpak2llvmy_mondo_relaxed.owl SCAN OMIMPS:607250 owl:Class UBERON:0004684 biolink:NamedThing raphe nuclei The raphe nuclei are thin plates of cells in and immediately adjacent to the sagittal plane. tmpak2llvmy_mondo_relaxed.owl raphe nucleus|nuclei raphes|raphe nuclei|raphe cluster|raphe nuclei set|set of raphe nuclei|raphe of mesenchephalon owl:Class MONDO:0005777 biolink:NamedThing granuloma inguinale A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. tmpak2llvmy_mondo_relaxed.owl pudendal ulcer|granuloma inguinale|donovanosis ICD9:099.2|ICD10:A58|MESH:D006100|NCIT:C3065|GARD:0009532|DOID:9113|EFO:0007291|UMLS:C0018190|SCTID:28867007 https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale owl:Class MONDO:0005952 biolink:NamedThing scarlet fever A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. tmpak2llvmy_mondo_relaxed.owl scarlatina DOID:8596|UMLS:C0036285|EFO:0007477|ICD9:034.1|ICD9:034|ICD10:A38|ICD10:A38.9|SCTID:30242009|NCIT:C94575|MESH:D012541 owl:Class MONDO:0021680 biolink:NamedThing streptococcal infection Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. tmpak2llvmy_mondo_relaxed.owl Streptococcus infectious disease|Streptococcus disease or disorder|Streptococcus caused disease or disorder|infection, streptococcal|streptococcal infection|infections, streptococcal UMLS:C0038395|SCTID:85769006|ICD9:041.00|ICD9:041.09|EFO:1001476|MESH:D013290|NCIT:C87062 owl:Class MONDO:0007624 biolink:NamedThing Flynn-Aird syndrome Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. tmpak2llvmy_mondo_relaxed.owl cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental|Flynn Aird syndrome|Flynn-Aird syndrome UMLS:C0343108|OMIM:136300|SCTID:239056006|Orphanet:2047|ICD10:Q87.8|GARD:0002347|MESH:C537066 https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome owl:Class MONDO:0008585 biolink:NamedThing HELLP syndrome HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. tmpak2llvmy_mondo_relaxed.owl hypertension, pregnancy-induced|hemolysis, elevated liver enzymes, lowered platelets|PREECLAMPSIA/eclampsia 1|toxemia of pregnancy|Preg1|hemolysis-elevated liver enzymes-low platelets syndrome|pee|hemolysis, elevated liver enzymes, and Low Platelet count|PEE1|hemolysis-elevated liver enzymes-Low Platelet count syndrome|hemolysis, elevated liver enzymes, low platelets in pregnancy EFO:0007297|GARD:0008528|MedDRA:10049058|UMLS:C0162739|DOID:13133|Orphanet:244242|NCIT:C84750|ICD10:O14.2|MESH:D017359|OMIM:189800 https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome owl:Class MONDO:0001641 biolink:NamedThing severe pre-eclampsia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. tmpak2llvmy_mondo_relaxed.owl Preeclampsia with severe features|severe pre-eclampsia, with delivery|antepartum severe pre-eclampsia|severe preeclampsia|postpartum severe pre-eclampsia DOID:13129|ICD9:642.50|NCIT:C112843 owl:Class CHEBI:34905 biolink:NamedThing paraquat An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions. tmpak2llvmy_mondo_relaxed.owl 1,1'-Dimethyl-4,4'-bipyridinium|1,1'-dimethyl-4,4'-bipyridyldiylium|N,N'-dimethyl-4,4'-bipyridinium|paraquat dication|Paraquat|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|methyl viologen ion(2+)|N,N'-dimethyl-4,4'-bipyridinium dication|dimethyl viologen|paraquat ion owl:Class MONDO:0010778 biolink:NamedThing cyclic vomiting syndrome A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. tmpak2llvmy_mondo_relaxed.owl cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease|CVS|Cvs-plus|cyclic vomiting syndrome-plus GARD:0006230|OMIM:500007 owl:Class UBERON:0015281 biolink:NamedThing pancreas right lobe A pancreatic lobule that is in_the_right_side_of a exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011371 biolink:NamedThing hydroa vacciniforme, familial An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hydroa vacciniforme, familial|hereditary hydroa vacciniforme|familial hydroa vacciniforme OMIM:603794|MESH:C536077|UMLS:C1863533|GARD:0010079 https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial owl:Class MONDO:0018024 biolink:NamedThing hydroa vacciniforme A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. tmpak2llvmy_mondo_relaxed.owl hV MESH:D006837|ICD10:L56.4|NCIT:C84766|SCTID:200837006|GARD:0009654|UMLS:C0020241|Orphanet:330058 https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme owl:Class MONDO:0033613 biolink:NamedThing neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities tmpak2llvmy_mondo_relaxed.owl NEDSWMA OMIM:619026 owl:Class GO:0051446 biolink:NamedThing positive regulation of meiotic cell cycle Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl positive regulation of meiotic cell cycle progression|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|upregulation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|up regulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle owl:Class MONDO:0007015 biolink:NamedThing viral meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. tmpak2llvmy_mondo_relaxed.owl MESH:D008587|ICD10:A87|ICD10:A87.9|SCTID:58170007|NCIT:C118298|ICD9:047.9|ICD9:321.2|EFO:1001236|DOID:10310|ICD9:047.8|MedDRA:10047469|UMLS:C0025297 owl:Class MONDO:0006662 biolink:NamedThing aseptic meningitis Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. tmpak2llvmy_mondo_relaxed.owl acute aseptic meningitis|aseptic meningitis MESH:D008582|SCTID:301770000|MedDRA:10003458|EFO:1000823|NCIT:C118299|DOID:12157|UMLS:C0025290|ICD10:G03.0 owl:Class MONDO:0011710 biolink:NamedThing specific language impairment 1 tmpak2llvmy_mondo_relaxed.owl specific language impairment quantitative trait locus on chromosome 16|SLI1|specific language impairment 1 OMIM:606711|UMLS:C1847614 owl:Class MONDO:0003726 biolink:NamedThing apocrine adenosis of breast Breast adenosis characterized by the presence of extensive apocrine metaplasia. tmpak2llvmy_mondo_relaxed.owl breast apocrine adenosis|apocrine adenosis of the breast|apocrine adenosis of breast NCIT:C5198|DOID:5999|UMLS:C1332314 owl:Class MONDO:0003724 biolink:NamedThing non-proliferative fibrocystic change of the breast Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. tmpak2llvmy_mondo_relaxed.owl non-proliferative fibrocystic change|breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change of breast NCIT:C6943|DOID:5997|UMLS:C1332628 owl:Class UBERON:0008878 biolink:NamedThing palmar part of manus tmpak2llvmy_mondo_relaxed.owl regio palmaris|front of hand|palmar region|palm|palm of hand owl:Class MONDO:0043297 biolink:NamedThing vibrio vulnificus infectious disease An disease or disorder caused by infection with Vibrio vulnificus. tmpak2llvmy_mondo_relaxed.owl Vibrio vulnificus caused disease or disorder|Vibrio vulnificus infectious disease|vibrio vulnificus infectious disease|Vibrio vulnificus disease or disorder|vibrio vulnificus infection GARD:0009584|MESH:C536348|UMLS:C1274377|SCTID:402965002 owl:Class MONDO:0007014 biolink:NamedThing vibrio infectious disease Infections with bacteria of the genus vibrio. tmpak2llvmy_mondo_relaxed.owl Vibrio caused disease or disorder|vibrio infectious disease|Vibrio infectious disease|Vibrio disease or disorder EFO:1001235|UMLS:C0042636|MESH:D014735 owl:Class MONDO:0003723 biolink:NamedThing blunt duct adenosis of breast Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. tmpak2llvmy_mondo_relaxed.owl breast blunt duct adenosis|blunt duct adenosis of the breast DOID:5996|UMLS:C1332573|NCIT:C6941 owl:Class MONDO:0003725 biolink:NamedThing breast adenosis A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis. tmpak2llvmy_mondo_relaxed.owl adenosis of the breast|microglandular adenosis|adenosis - breast|adenosis|breast adenosis|adenosis of breast NCIT:C3484|EFO:0006891|DOID:5998|UMLS:C0085750 owl:Class GO:0008200 biolink:NamedThing ion channel inhibitor activity Binds to and stops, prevents, or reduces the activity of an ion channel. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003083 biolink:NamedThing venous hemangioma A rare slow growing benign tumor of aberrant and ectatic venous connections. tmpak2llvmy_mondo_relaxed.owl Venous malformation|Venous angioma ICD9:228.09|SCTID:403968005|DOID:467|UMLS:C0334532|ICDO:9122/0|NCIT:C4296 owl:Class MONDO:0006619 biolink:NamedThing viral exanthem A virus-induced exanthem tmpak2llvmy_mondo_relaxed.owl ICD9:057.9|EFO:1000776|ICD9:057.8|DOID:8672|SCTID:49882001|UMLS:C0153062 owl:Class MONDO:0022820 biolink:NamedThing congenital articular rigidity tmpak2llvmy_mondo_relaxed.owl GARD:0001473 https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity owl:Class UBERON:0003920 biolink:NamedThing venous blood vessel A blood vessel that carries blood from the capillaries toward the heart tmpak2llvmy_mondo_relaxed.owl venous tree organ segment|segment of venous tree organ owl:Class HP:0005262 biolink:NamedThing Abnormality of the synovia tmpak2llvmy_mondo_relaxed.owl UMLS:C4025225 peter 2008-03-26T04:27:00Z human_phenotype owl:Class MONDO:0013505 biolink:NamedThing spermatogenic failure 9 Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene. tmpak2llvmy_mondo_relaxed.owl globozoospermia, total|globozoospermia, complete|spermatogenic failure 9|spermatogenic failure type 9|azoospermia caused by mutation in DPY19L2|DPY19L2 azoospermia|SPGF9 DOID:0070175|OMIM:613958|UMLS:C3151407 owl:Class MONDO:0009424 biolink:NamedThing Bartter disease type 2 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. tmpak2llvmy_mondo_relaxed.owl KCNJ1 Bartter syndrome|hypokalemic alkalosis with hypercalciuria antenatal 2|hypokalemic alkalosis with hypercalciuria 2 antenatal|Bartter syndrome antenatal type 2|Bartter syndrome, type 2, antenatal|Bartter syndrome type 2|BARTS2|Bartter syndrome type 2 antenatal|Bartter syndrome caused by mutation in KCNJ1|Bartter syndrome, antenatal, type 2|hyperprostaglandin E syndrome 2|Bartter disease type 2|hypokalemic alkalosis with hypercalciuria, antenatal, 2|hypokalemic alkalosis with hypercalciuria 2, antenatal OMIM:241200|MESH:C537651|ICD10:E26.8|GARD:0009658|SCTID:700109009|DOID:0110143 owl:Class MONDO:0100343 biolink:NamedThing antenatal Bartter syndrome A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. tmpak2llvmy_mondo_relaxed.owl Bartter syndrome, furosemide-amiloride type|Bartter syndrome, furosemide type|hyperprostaglandin E syndrome Orphanet:93604 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000199 biolink:NamedThing mechanoreceptor cell A cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system. tmpak2llvmy_mondo_relaxed.owl mechanoreceptor cell owl:Class CL:0000101 biolink:NamedThing sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. tmpak2llvmy_mondo_relaxed.owl BTO:0001037|WBbt:0005759|FBbt:00005124|FMA:84649 cell owl:Class UBERON:0003510 biolink:NamedThing eyelid blood vessel A blood vessel that is part of a eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of blepharon|blood vessel of eyelid|blepharon blood vessel owl:Class MONDO:0000607 biolink:NamedThing primary cutaneous T-cell non-Hodgkin lymphoma A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. tmpak2llvmy_mondo_relaxed.owl primary cutaneous T-cell non-Hodgkin lymphoma|cutaneous T-cell non-Hodgkin lymphoma|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell lymphoma|T-cell non-Hodgkin's lymphoma of the skin|T-cell non-Hodgkin's lymphoma of skin|cutaneous T cell lymphoma|skin T-cell non-Hodgkin's lymphoma|PCTCL|CTCL|primary cutaneous T-cell non-Hodgkin's lymphoma MESH:D016410|ICDO:9709/3|NCIT:C3467|EFO:0002913|DOID:0060061 owl:Class MONDO:0014134 biolink:NamedThing pulmonary hypertension, primary, 2 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. tmpak2llvmy_mondo_relaxed.owl PPH2|primary pulmonary hypertension caused by mutation in SMAD9|SMAD9 primary pulmonary hypertension|pulmonary hypertension, primary, 2|pulmonary hypertension, primary, type 2 UMLS:C3888002|OMIM:615342 owl:Class MONDO:0013847 biolink:NamedThing chromosome 16p11.2 duplication syndrome Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. tmpak2llvmy_mondo_relaxed.owl susceptibility to autism, 14B|proximal 16p11.2 microduplication syndrome|proximal dup(16)(p11.2)|AUTS14B|16p11.2 duplication|16p11.2 microduplication|proximal trisomy 16p11.2|chromosome 16p11.2 duplication syndrome|16p11.2 duplication syndrome|autism, susceptibility to, 14B OMIM:614671|Orphanet:370079|UMLS:C3553407|ICD10:Q92.3|GARD:0012388|SCTID:765142003|DOID:0060430 owl:Class MONDO:0012760 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 5|EIG5 OMIM:611934|DOID:0111320 owl:Class MONDO:0002305 biolink:NamedThing thrombophilia A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. tmpak2llvmy_mondo_relaxed.owl excessive blood clotting|hypercoagulability|hypercoagulability state|hypercoagulable NCIT:C84479|UMLS:C0398623|SCTID:234467004|ICD9:286.9|DOID:2452|MESH:D019851|ICD10:D68.59 owl:Class MONDO:0025510 biolink:NamedThing pythiosis A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. tmpak2llvmy_mondo_relaxed.owl human pythiosis|pythium insidiosum infection EFO:1001410|GARD:0011989|UMLS:C0276912|MESH:D058968 owl:Class UBERON:0037447 biolink:NamedThing wall of male urethra tmpak2llvmy_mondo_relaxed.owl male urethral wall owl:Class MONDO:0017594 biolink:NamedThing indolent B-cell non-Hodgkin lymphoma tmpak2llvmy_mondo_relaxed.owl indolent B-cell NHL|B cell lymphoma, indolent|indolent B cell lymphoma Orphanet:300842|NCIT:C171299|GARD:0010482 https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma owl:Class MONDO:0043683 biolink:NamedThing Leriche syndrome An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. tmpak2llvmy_mondo_relaxed.owl syndrome, Leriche|Leriche's syndrome|syndrome, Leriche's|Leriches syndrome|leriche's syndrome|Leriche syndrome NCIT:C34773|UMLS:C0023370|MESH:D007925|SCTID:307816004 owl:Class GO:0120034 biolink:NamedThing positive regulation of plasma membrane bounded cell projection assembly Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000397 biolink:NamedThing colonic epithelium An epithelium that is part of a colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl posterior intestine epithelium|colon epithelium|epithelium of large bowel|epithelial tissue of large bowel|epithelium of colon|large bowel epithelium|large bowel epithelial tissue|epithelial tissue of colon|colon epithelial tissue owl:Class CHEBI:37323 biolink:NamedThing 7,8-dimethylisoalloxazine A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8. tmpak2llvmy_mondo_relaxed.owl dimethylisoalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione owl:Class CHEBI:37324 biolink:NamedThing 7,8-dimethylbenzo[g]pteridine-2,4-dione tmpak2llvmy_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4-dione owl:Class MONDO:0006270 biolink:NamedThing lobular breast carcinoma in situ A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl non-invasive lobular carcinoma of the breast|breast lobular carcinoma in situ|lobular breast carcinoma in situ|non-infiltrating lobular breast carcinoma|non-infiltrating lobular carcinoma of the breast|lobular carcinoma in situ (LCIS)|non-invasive lobular carcinoma of breast|non-infiltrating lobular carcinoma of breast|lobular carcinoma in situ|non-infiltrating lobular carcinoma|lobular carcinoma in situ of the breast|LCIS|lobular Ca in situ of breast|non-invasive lobular breast carcinoma|lobular carcinoma in situ of breast|lobular Ca in situ of the breast|lobular carcinoma in situ of the breast (LCIS) SCTID:109888004|NCIT:C4018|UMLS:C0334381|EFO:1000326|ICDO:8520/2|ONCOTREE:LCIS|UMLS:C0279563 owl:Class MONDO:0003218 biolink:NamedThing adenocarcinoma in situ A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. tmpak2llvmy_mondo_relaxed.owl AIS|adenocarcinoma in situ ICDO:8140/2|DOID:4943|MESH:D065311|UMLS:C0334276|ONCOTREE:AIS|NCIT:C4123 owl:Class MONDO:0006579 biolink:NamedThing melanoacanthoma A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. tmpak2llvmy_mondo_relaxed.owl NCIT:C27548|SCTID:394727000|UMLS:C1321683|EFO:1000733|Wikipedia:Melanocanthoma|DOID:11684 owl:Class CL:0000853 biolink:NamedThing olfactory epithelial support cell Olfactory epithelial support cell is a columnar cell that extends from the epithelial free margin to the basement membrane of the olfactory epithelium. This cell type has a large, vertically, elongate, euchromatic nucleus, along with other nuclei, forms a layer superficial to the cell body of the receptor cell; sends long somewhat irregular microvilli into the mucus layer; at the base, with expanded end-feet containing numerous lamellated dense bodies resembling lipofuscin of neurons. tmpak2llvmy_mondo_relaxed.owl sustentaculocyte of olfactory epithelium|olfactory sustentacular cell|supporting cell of olfactory epithelium FMA:62302 cell owl:Class MONDO:0008633 biolink:NamedThing Muckle-Wells syndrome Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). tmpak2llvmy_mondo_relaxed.owl urticaria-deafness-amyloidosis syndrome|Muckle-Wells syndrome|Cryopyrin-associated periodic syndrome 2|MUCKLE-Wells syndrome|neutrophilic urticaria|urticaria, deafness and amyloidosis|MWS|Uda syndrome|Muckle Wells syndrome UMLS:C0268390|SCTID:402417009|Orphanet:575|GARD:0008472|UMLS:C1304205|OMIM:191900|MedDRA:10064569|DOID:0050854|NCIT:C119054|ICD9:708.8|ICD10:E85.0 owl:Class MONDO:0005967 biolink:NamedThing splenic tuberculosis Infection of the spleen with species of mycobacterium. tmpak2llvmy_mondo_relaxed.owl MESH:D014400|ICD10:A18.85|DOID:9305|EFO:0007492|ICD9:017.7|UMLS:C0041331|SCTID:28399005 owl:Class MONDO:0037003 biolink:NamedThing malignant phyllodes tumor A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. tmpak2llvmy_mondo_relaxed.owl malignant cystosarcoma phyllodes|phyllodes tumor, malignant|malignant phyllodes neoplasm|malignant phyllodes tumor NCIT:C4275|ICDO:9020/3 owl:Class CL:1000222 biolink:NamedThing stomach neuroendocrine cell tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011495 biolink:NamedThing Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. tmpak2llvmy_mondo_relaxed.owl Abnormality of corneal epithelium UMLS:C4023326 peter 2012-04-03T07:10:49Z human_phenotype owl:Class HP:0000481 biolink:NamedThing Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. tmpak2llvmy_mondo_relaxed.owl Corneal abnormalities|Abnormality of the cornea|Cornela disease|Corneal abnormality UMLS:C1855670|UMLS:C4020889 HP:0007972|HP:0007771 human_phenotype owl:Class HGNC:2226 biolink:NamedThing COLQ tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001609 biolink:NamedThing muscle fibroblast Fibroblast from muscle organ. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0643 owl:Class MONDO:0021168 biolink:NamedThing hibernoma A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. tmpak2llvmy_mondo_relaxed.owl hibernoma|Brown fat tumor|Brown fat neoplasm|hibernoma, benign|fetal fat cell lipoma UMLS:C0205822|NCIT:C3702|ICDO:8880/0|SCTID:404064001 owl:Class GO:0045580 biolink:NamedThing regulation of T cell differentiation Any process that modulates the frequency, rate or extent of T cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of T cell development|regulation of T-lymphocyte differentiation|regulation of T-cell differentiation|regulation of T lymphocyte differentiation owl:Class UBERON:0003365 biolink:NamedThing epithelium of left lung An epithelium that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of left lung|left lung epithelium|left lung epithelial tissue owl:Class MONDO:0023415 biolink:NamedThing congenital candidiasis A fungal infection by any of the Candida species that is present at birth. tmpak2llvmy_mondo_relaxed.owl Congenital Candidiasis|Congenital candidiasis|Congenital candidosis|congenital candidiasis MEDGEN:575892|SCTID:276672007|NCIT:C116811|UMLS:C0343875 owl:Class MONDO:0008311 biolink:NamedThing progeria-short stature-pigmented nevi syndrome Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. tmpak2llvmy_mondo_relaxed.owl Mulvihill-Smith syndrome|progeroid short stature with pigmented nevi GARD:0004494|Orphanet:2959|UMLS:C1261128|MESH:C536422|SCTID:399947002|OMIM:176690|ICD9:759.89 owl:Class MONDO:0004481 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma UMLS:C1518871|DOID:8150|NCIT:C5726|ICDO:8453/3 owl:Class MONDO:0006047 biolink:NamedThing pancreatic adenocarcinoma A carcinoma that arises from glandular epithelial cells of the pancreas tmpak2llvmy_mondo_relaxed.owl pancreatic adenocarcinoma|PAAD|pancreas adenocarcinoma|adenocarcinoma - pancreas|adenocarcinoma of pancreas|adenocarcinoma of the pancreas NCIT:C8294|ONCOTREE:PAAD|EFO:1000044|DOID:4074|SCTID:700423003|UMLS:C0281361 owl:Class MONDO:0006288 biolink:NamedThing malignant adrenal gland pheochromocytoma A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl malignant adrenal gland paraganglioma|pheochromocytoma, malignant|malignant adrenal medullary pheochromocytoma|malignant pheochromocytoma|malignant adrenal pheochromocytoma|adrenal gland pheochromocytoma, malignant|malignant adrenal gland Chromaffinoma|malignant adrenal gland chromaffin paraganglioma|malignant adrenal medullary paraganglioma|pheochromoblastoma|malignant adrenal gland pheochromocytoma|malignant adrenal gland chromaffin neoplasm|malignant adrenal gland chromaffin tumor ICDO:8700/3|SCTID:21851000119103|UMLS:C0334419|NCIT:C4220|EFO:1000348|DOID:0080347 owl:Class GO:0071830 biolink:NamedThing triglyceride-rich lipoprotein particle clearance The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044037 biolink:NamedThing livedo reticularis A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. tmpak2llvmy_mondo_relaxed.owl livedo reticularis|livedo racemosa SCTID:238772004|MESH:D054068|UMLS:C0085642 owl:Class UBERON:0001328 biolink:NamedThing lobe of prostate A portion of a prostate that forms a lobe. tmpak2llvmy_mondo_relaxed.owl prostate gland lobe|lobe of prostate gland|prostatic lobe owl:Class UBERON:0009912 biolink:NamedThing anatomical lobe A portion of an organ, such as the liver, lung, breast, or brain. tmpak2llvmy_mondo_relaxed.owl lobus owl:Class UBERON:0016481 biolink:NamedThing bronchial lymph node A lymph node that is part of a bronchus. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:17089 biolink:NamedThing glycoprotein A compound in which a carbohydrate component is covalently bound to a protein component. tmpak2llvmy_mondo_relaxed.owl glicoproteina|Glycoprotein|glycoproteine|glycoproteins|Glykoprotein|Glykoproteine|glycoproteines|glicoproteinas owl:Class MONDO:0001109 biolink:NamedThing petrositis Inflammation of petrous bone. tmpak2llvmy_mondo_relaxed.owl petrous part of temporal bone inflammation|chronic petrositis|acute petrositis|inflammation of petrous bone|inflammation of petrous part of temporal bone ICD10:H70.21|ICD9:383.21|ICD10:H70.229|UMLS:C0155448|ICD9:383.20|ICD10:H70.209|MESH:D059270|ICD10:H70.22|ICD10:H70.219|DOID:10755|ICD9:383.2|ICD10:H70.20|ICD9:383.22|ICD10:H70.2|SCTID:28593007 owl:Class MONDO:0030105 biolink:NamedThing galactosemia 4 tmpak2llvmy_mondo_relaxed.owl Galactose Mutarotase Deficiency|GALACTOSEMIA IV|galactosemia iv|GALAC4 Orphanet:570422|OMIM:618881 owl:Class MONDO:0018116 biolink:NamedThing galactosemia Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. tmpak2llvmy_mondo_relaxed.owl galactosaemia|galactose intolerance|galactosemia OMIMPS:230400|MESH:D005693|MedDRA:10017604|UMLS:C0016952|Orphanet:352|ICD10:E74.21|GARD:0002424|DOID:9870|SCTID:190745006|NCIT:C84723|ICD9:271.1|ICD10:E74.2 owl:Class MONDO:0014640 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. tmpak2llvmy_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3|FTDALS3 OMIM:616437|UMLS:C4225326|DOID:0110068 owl:Class MONDO:0023472 biolink:NamedThing chondrodysplasia situs inversus imperforate anus polydactyly tmpak2llvmy_mondo_relaxed.owl impossible syndrome GARD:0001299 https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly owl:Class MONDO:0022723 biolink:NamedThing chondrodysplasia tmpak2llvmy_mondo_relaxed.owl chondrodysplasia SCTID:205465004 owl:Class GO:0006323 biolink:NamedThing DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure. tmpak2llvmy_mondo_relaxed.owl DNA organisation|DNA condensation|DNA organization owl:Class UBERON:0010894 biolink:NamedThing keratinous tooth tmpak2llvmy_mondo_relaxed.owl horny denticle owl:Class MONDO:0016184 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 1 tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 1 Orphanet:209030 owl:Class HGNC:428 biolink:NamedThing ALMS1 tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0009001 biolink:NamedThing fruit A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010). tmpak2llvmy_mondo_relaxed.owl coenocarp (narrow)|frucht (exact, German)|syncarp (narrow)|aggregate fruit (broad)|dehiscent fruit (broad)|compound fruit (broad)|propagule (broad)|multiple fruit (broad)|indehiscent fruit (broad)|fruto (exact, Spanish)|diaspore (broad)|果実 (exact, Japanese) PO_GIT:76 A fruit (PO:0009001) may contain additional plant structures (PO:0009011) that were part of a flower (PO:0009046) and mature along with the gynoecium, such as a receptacle (PO:0009064). A fruit may develop without fertilization in cases of parthenocarpy, apomixis, or other hormone-induced conditions and may not always contain seeds (PO:0009010). When annotating to fruit (PO:0009001) that are referred to as ‘aggregate’, ‘multiple’, or ‘compound’, please annotate directly to the appropriate plant structure, such as receptacle, hypanthium (PO:0009065) or infructescence (PO:0006342). Fruits only occur in angiosperms. PO:0020079|PO:0020069|PO:0020076|PO:0020074|PO:0020067|PO:0020071|PO:0020072|PO:0020083|PO:0020080|PO:0020073|PO:0020078|PO:0020070|PO:0020077|PO:0020068|PO:0020107|PO:0020087|PO:0020082 plant_anatomy owl:Class CL:0000456 biolink:NamedThing mineralocorticoid secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0009158 biolink:NamedThing Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality|EDS 10|EDS10 (formerly)|Ehlers-Danlos syndrome type 10 (formerly)|EDS X|Ehlers-Danlos syndrome, fibronectin-deficient|FN Abnormality|Ehlers-Danlos syndrome, dysfibronectinemic type|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, type 10 MESH:C565600|GARD:0008508|OMIM:225310|Orphanet:75501|SCTID:83586000|ICD10:Q79.6 owl:Class MONDO:0005414 biolink:NamedThing treatment-refractory schizophrenia Schizophrenia which does not respond to commonly used treatments. tmpak2llvmy_mondo_relaxed.owl refractory schizophrenia|TRS|treatment-refractory schizophrenia EFO:0004609 owl:Class MONDO:0008711 biolink:NamedThing Goodman syndrome Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. tmpak2llvmy_mondo_relaxed.owl Goodman camptodactyly|acrocephalopolysyndactyly type 4|acrocephalopolysyndactyly type IV|Goodman syndrome|ACPS4|ACPS 4 OMIM:201020|SCTID:720600004|Orphanet:65798|MESH:C537287|ICD10:Q87.0|GARD:0002549 https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome owl:Class HGNC:2494 biolink:NamedThing CTBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018165 biolink:NamedThing venous thoracic outlet syndrome Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. tmpak2llvmy_mondo_relaxed.owl Venous TOS|VTOS|Paget-Schrotter disease|effort subclavian vein thrombosis|Venous scalenus anticus syndrome|Venous thoracic outlet compression syndrome|Venous cervical rib syndrome|Venous hyperabduction syndrome|Venous costoclavicular syndrome Orphanet:357131|SCTID:25981000119102|UMLS:C1956396|ICD10:G54.0 owl:Class MONDO:0008713 biolink:NamedThing acrodermatitis enteropathica Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. tmpak2llvmy_mondo_relaxed.owl enteropathica|Danbolt-Cross syndrome|AEZ|inherited zinc deficiency|acrodermatitis enteropathica, zinc deficiency type|Brandt syndrome|ae|acrodermatitis enteropathica, zinc-deficiency type|acrodermatitis enteropathica|acrodermatitis enteropathica zinc deficiency type SCTID:37702000|MESH:C538178|GARD:0006343|OMIM:201100|ICD10:E83.2|ICD9:686.8|Orphanet:37|GARD:0005723|UMLS:C0221036|DOID:0050605|NCIT:C128802 MONDO:0023070 https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica|https://rarediseases.info.nih.gov/diseases/6343/enteropathica owl:Class MONDO:0011823 biolink:NamedThing developmental malformations-deafness-dystonia syndrome Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. tmpak2llvmy_mondo_relaxed.owl DJO|juvenile-onset dystonia|dystonia, juvenile-onset Orphanet:79107|ICD10:Q87.8|GARD:0009818|OMIM:607371|MESH:C537704|UMLS:C1846331 https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia owl:Class MONDO:0008518 biolink:NamedThing calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. tmpak2llvmy_mondo_relaxed.owl multiple synostosis syndrome|calcaneonavicular coalition|synostoses, tarsal, carpal and digital|synostoses, tarsal, carpal, and digital SCTID:62628008|DOID:14762|ICD9:755.8|OMIM:186400|MESH:C538156|UMLS:C0175700|GARD:0009863 owl:Class MONDO:0001411 biolink:NamedThing synostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. tmpak2llvmy_mondo_relaxed.owl MESH:D013580|DOID:11971 owl:Class HP:0000031 biolink:NamedThing Epididymitis The presence of inflammation of the epididymis. tmpak2llvmy_mondo_relaxed.owl MSH:D004823|UMLS:C0014534|SNOMEDCT_US:31070006 human_phenotype owl:Class MONDO:0010684 biolink:NamedThing X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. tmpak2llvmy_mondo_relaxed.owl myopathy, X-linked, with excessive autophagy|MEAX|vacuolar myopathy|XMEA ICD10:G71.8|SCTID:719815005|MESH:C536522|DOID:0050760|UMLS:C1839615|GARD:0003892|UMLS:C2931230|OMIM:310440|Orphanet:25980 https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy owl:Class NCBITaxon:1980519 biolink:NamedThing Crimean-Congo hemorrhagic fever orthonairovirus tmpak2llvmy_mondo_relaxed.owl Crimean-Congo hemorrhagic fever virus|Crimean-Congo hemorrhagic fever nairovirus|Crimean-Congo hemorrhagic virus|CCHFV|Crimean-Congo haemorrhagic fever virus GC_ID:1 NCBITaxon:11593 ncbi_taxonomy owl:Class NCBITaxon:1980517 biolink:NamedThing Orthonairovirus tmpak2llvmy_mondo_relaxed.owl Nairovirus|Nairoviruses GC_ID:1 NCBITaxon:11592 ncbi_taxonomy owl:Class MONDO:0018661 biolink:NamedThing Zika virus infectious disease Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. tmpak2llvmy_mondo_relaxed.owl Zika|Zika virus disease or disorder|Zika virus infectious disease|Zika virus disease|congenital Zika syndrome|Zika virus caused disease or disorder|fever, Zika|Zika virus infection|Zika fever|ZikV infection|congenital Zika virus infection GARD:0012894|ICD10:A92.8|NCIT:C128423|UMLS:CN237724|ICD10:A92.5|SCTID:3928002|Orphanet:448237|MESH:D000071243|DOID:0060478|ICD10:U06|UMLS:C0276289 owl:Class MONDO:0002920 biolink:NamedThing malignant ovarian Brenner tumor A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. tmpak2llvmy_mondo_relaxed.owl malignant ovarian Brenner tumor|malignant Brenner tumor of ovary|ovarian Brenner tumor, malignant|malignant Brenner tumor of the ovary DOID:4217|UMLS:C0334495|ICDO:9000/3|EFO:1000357|NCIT:C4270 owl:Class MONDO:0002370 biolink:NamedThing ovarian Brenner tumor A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. tmpak2llvmy_mondo_relaxed.owl Brenner neoplasm of the ovary|ovary Brenner tumor|benign ovarian Brenner tumor|Brenner tumor of the ovary|Brenner tumor|ovarian Brenner neoplasm|Brenner neoplasm of ovary|Brenner tumor of ovary|ovarian Brenner tumor MESH:D001948|GARD:0009397|EFO:1000112|DOID:2636|NCIT:C3872|SCTID:254859006 owl:Class UBERON:0034711 biolink:NamedThing cortical preplate The layer of the developing cerebral cortex that is formed from the first cohort of neurons to migrate out of the cortical ventricular zone; split by the second wave into marginal zone and subplate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011843 biolink:NamedThing hypertrophic cardiomyopathy 25 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 25|cardiomyopathy, familial hypertrophic, type 25|hypertrophic cardiomyopathy caused by mutation in Tcap|hypertrophic cardiomyopathy caused by mutation in TCAP|TCAP hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 25|CMH25|Tcap hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 25 MESH:C564388|DOID:0110328|UMLS:C1843791|OMIM:607487 owl:Class MONDO:0010875 biolink:NamedThing pachydermodactyly, familial tmpak2llvmy_mondo_relaxed.owl pachydermodactyly, familial MESH:C563947|UMLS:C1838218|OMIM:600356 owl:Class MONDO:0017444 biolink:NamedThing congenital absence of both lower leg and foot tmpak2llvmy_mondo_relaxed.owl tibiofibular terminal transverse meromelia Orphanet:294981|ICD10:Q72.2|SCTID:278532000 owl:Class MONDO:0017421 biolink:NamedThing non-syndromic terminal limb defects tmpak2llvmy_mondo_relaxed.owl terminal meromelia|isolated terminal limb defects|nonsyndromic terminal limb defects|terminal limb defects Orphanet:294929 owl:Class UBERON:0004416 biolink:NamedThing proximal epiphysis of metacarpal bone A proximal epiphysis that is part of a metacarpal bone [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl upper end of metacarpal bone|basis ossis metacarpi|base of metacarpal bone|proximal end of metacarpal bone|metacarpal bone base owl:Class GO:0031334 biolink:NamedThing positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly. tmpak2llvmy_mondo_relaxed.owl up regulation of protein complex assembly|up-regulation of protein complex assembly|upregulation of protein complex assembly|positive regulation of protein complex assembly|stimulation of protein complex assembly|activation of protein complex assembly owl:Class MONDO:0004933 biolink:NamedThing hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. tmpak2llvmy_mondo_relaxed.owl HLHS UMLS:C0152101|ICD9:746.7|MESH:D018636|SCTID:62067003|OMIMPS:241550|NCIT:C98894|DOID:9955|ICD10:Q23.4|GARD:0006739|Orphanet:2248|MedDRA:10021076 prototype_pattern owl:Class MONDO:0000497 biolink:NamedThing pyometritis Inflammation of uterine musculature associated with pus in the uterine cavity. tmpak2llvmy_mondo_relaxed.owl pyometra|myometrium inflammation|inflammation of myometrium MESH:D055112|NCIT:C121207|DOID:0050862|SCTID:88981003|UMLS:C0034215|UMLS:C0686163 owl:Class MONDO:0020420 biolink:NamedThing pulmonary branch stenosis Narrowing of the lumen of the right or left pulmonary artery branch. tmpak2llvmy_mondo_relaxed.owl pulmonary artery stenosis, branch (not PPS)|branch pulmonary artery stenosis|peripheral pulmonary stenosis UMLS:C2062889|NCIT:C99144|Orphanet:99084|ICD10:Q25.6 owl:Class UBERON:0010294 biolink:NamedThing scleral endothelium An endothelium that is part of a sclera. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001397 biolink:NamedThing mononeuropathy Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. tmpak2llvmy_mondo_relaxed.owl MESH:D020422|SCTID:128189008|DOID:1188|ICD10:G58.9|UMLS:C0494491 owl:Class GO:0009308 biolink:NamedThing amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpak2llvmy_mondo_relaxed.owl amine metabolism owl:Class GO:0046395 biolink:NamedThing carboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpak2llvmy_mondo_relaxed.owl carboxylic acid breakdown|carboxylic acid degradation|carboxylic acid catabolism owl:Class HGNC:17063 biolink:NamedThing RAB3GAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037792 biolink:NamedThing carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of carbohydrate metabolic process|disorder of carbohydrate metabolism|carbohydrate metabolic process disease SCTID:20957000 owl:Class MONDO:0003304 biolink:NamedThing plexiform neurofibroma An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) tmpak2llvmy_mondo_relaxed.owl plexiform neurofibroma|plexiform neurofibroma (disease) plexiform neurofibroma (disease) ICDO:9550/0|NCIT:C3797|DOID:5151|UMLS:C0206728|SCTID:403818001|MESH:D018318|EFO:0000658|ICD9:215.9|HP:0009732 owl:Class MONDO:0017735 biolink:NamedThing congenital aortic valve stenosis tmpak2llvmy_mondo_relaxed.owl Orphanet:3093|SCTID:18546004|MedDRA:10010371|ICD9:746.3|ICD10:Q23.0 owl:Class MONDO:0042981 biolink:NamedThing aortic valve stenosis tmpak2llvmy_mondo_relaxed.owl stenosed aortic valve|aortic valve stenosis|aortic stenosis|valvular aortic stenosis GARD:0005830|SCTID:60573004|HP:0001650 owl:Class CHEBI:35346 biolink:NamedThing 11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. tmpak2llvmy_mondo_relaxed.owl 11beta-hydroxysteroids|11beta-hydroxy steroids|an 11beta-hydroxysteroid|11beta-Hydroxysteroid owl:Class CHEBI:36841 biolink:NamedThing 11-hydroxy steroid tmpak2llvmy_mondo_relaxed.owl 11-hydroxy steroids owl:Class CHEBI:32594 biolink:NamedThing barium atom tmpak2llvmy_mondo_relaxed.owl baryum|barium|bario|Ba|56Ba|Barium owl:Class NCBITaxon:1329799 biolink:NamedThing Archelosauria tmpak2llvmy_mondo_relaxed.owl Testudines + Archosauria group|Archosauria-Testudines PMID:22839753|PMID:25450099|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009661 biolink:NamedThing mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. tmpak2llvmy_mondo_relaxed.owl N-acetylgalactosamine 4-sulfatase deficiency|N-acetylgalactosamine-4-sulfatase deficiency|mucopolysaccharidosis VI|ASB deficiency|MPS VI - Maroteaux-Lamy syndrome|Mucopoly-saccharidosis type VI|MPS 6|MPS VI|Arsb deficiency|Maroteaux Lamy syndrome|Maroteaux-Lamy syndrome|Maroteaux - Lamy syndrome|mucopolysaccharidosis type VI|MPSVI|deficiency of N-acetylgalactosamine-4-sulfatase|arylsulfatase B deficiency|ARSB deficiency|MPS6|Maroteaux-Lamy disease OMIM:253200|MESH:D009087|GARD:0007095|NCIT:C61264|MedDRA:10056892|DOID:12800|Orphanet:583|UMLS:C0026709|SCTID:69463008|ICD10:E76.2 owl:Class MONDO:0017647 biolink:NamedThing postinfectious autoimmune disease with chorea tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN203539|Orphanet:306727 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoimmune disease' MONDO_0007179 owl:Class NCBITaxon:33342 biolink:NamedThing Paraneoptera tmpak2llvmy_mondo_relaxed.owl Hemipteroidea|hemipteroid assemblage GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33340 biolink:NamedThing Neoptera tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011697 biolink:NamedThing Waardenburg syndrome type 2C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. tmpak2llvmy_mondo_relaxed.owl WS2C|Waardenburg syndrome type IIC|Waardenburg syndrome, type 2C DOID:0110951|OMIM:606662|MESH:C564684|UMLS:C1847722 owl:Class MONDO:0013911 biolink:NamedThing hypogonadotropic hypogonadism 9 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. tmpak2llvmy_mondo_relaxed.owl HH9|hypogonadotropic hypogonadism caused by mutation in NSMF|NSMF hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 9 with or without anosmia OMIM:614838|DOID:0090085|ICD10:E23.0|UMLS:C3553842 owl:Class HP:0000505 biolink:NamedThing Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. tmpak2llvmy_mondo_relaxed.owl Poor vision|Impaired vision|Loss of eyesight|Visual impairment MSH:D015354|UMLS:C0042798|SNOMEDCT_US:397540003|MSH:D014786|SNOMEDCT_US:7973008|SNOMEDCT_US:246635007|UMLS:C3665347 HP:0000566|HP:0007860|HP:0007983|HP:0007758|HP:0000516 human_phenotype owl:Class MONDO:0001090 biolink:NamedThing acute anterolateral myocardial infarction Acute form of anterolateral myocardial infarction. tmpak2llvmy_mondo_relaxed.owl acute anterolateral myocardial infarction|acute myocardial infarction of anterolateral wall|anterolateral myocardial infarction, acute UMLS:C0155627|SCTID:70211005|ICD9:410.0|ICD9:410.00|ICD9:410.01|ICD9:410.02|DOID:10651 Editor note: TODO: positional superclass owl:Class MONDO:0003125 biolink:NamedThing testicular sex cord-stromal neoplasm A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. tmpak2llvmy_mondo_relaxed.owl testicular sex cord-stromal tumor|sex cord-stromal neoplasm|sex cord-stromal neoplasm of testis|testis sex cord-stromal tumor|sex cord-stromal neoplasm of the testis|testicular sex cord-stromal neoplasm|sex cord-stromal tumor of the testis|sex cord-stromal tumor of testis Orphanet:363489|SCTID:702406000|DOID:4757|UMLS:CN204701|ICD10:C62.1|NCIT:C6358|UMLS:C3840076 owl:Class HGNC:6490 biolink:NamedThing LAMB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010991 biolink:NamedThing laterality defects, autosomal dominant tmpak2llvmy_mondo_relaxed.owl laterality defects dominant|laterality defects, autosomal dominant GARD:0003198|UMLS:C1832813|OMIM:601086|MESH:C563391 owl:Class MONDO:0011382 biolink:NamedThing sickle cell anemia Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. tmpak2llvmy_mondo_relaxed.owl Hemoglobin S disease without crisis|Hb-SS disease without crisis|hemoglobin SC disease|Hemoglobin S disease|Hb SC disease|Hb-S/Hb-C disease|sickle cell anemia|drepanocytosis|sickling disorder due to Hemoglobin S|HbS disease|sickle cell disease|sickle-cell/Hb-C disease without crisis DOID:10923|ICD10:D57.1|OMIM:603903|ICD10:D57.2|ICD10:D57.20|UMLS:C0002895|ICD10:D57.0|MedDRA:10040641|GARD:0008614|Orphanet:232|ICD9:282.63|MESH:D000755|ICD9:282.6|ICD10:D57|EFO:1001797|ICD9:282.60|NCIT:C34383 owl:Class MONDO:0017590 biolink:NamedThing carcinoma of the ampulla of vater A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpak2llvmy_mondo_relaxed.owl carcinoma of ampulla of vater|ampullary carcinoma|carcinoma of hepatopancreatic ampulla|hepatopancreatic ampulla carcinoma|AMPCA|ampulla of Vater carcinoma|ampulla of Vater cancer|ampullary cancer|Ampulloma ONCOTREE:AMPCA|UMLS:C0262401|ICD10:C24.1|DOID:4932|SCTID:254609000|Orphanet:300557|EFO:1000079|NCIT:C3908|MedDRA:10048853 owl:Class MONDO:0015381 biolink:NamedThing commissural lip fistula A cysts and fistulae of the face and oral cavity that involves the labial commissure. tmpak2llvmy_mondo_relaxed.owl cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity ICD10:Q38.0|Orphanet:141061 owl:Class HP:0009755 biolink:NamedThing Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. tmpak2llvmy_mondo_relaxed.owl Eyelid synechiae|Ankyloblepharon filiforme adnatum|Adhesion of eyelids|Eyelids stuck together UMLS:C1302999|UMLS:C0339182|SNOMEDCT_US:193953008|SNOMEDCT_US:400952003|MSH:C536373 A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. peter 2009-01-31T08:52:59Z human_phenotype owl:Class MONDO:0011514 biolink:NamedThing tricuspid atresia Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). tmpak2llvmy_mondo_relaxed.owl tricuspid atresia|congenital agenesis of the tricuspid valve|tricuspid valve atresia|tricuspid atresia (disease)|congenital atresia of tricuspid valve tricuspid atresia (disease) Orphanet:1209|SCTID:63042009|UMLS:C0243002|DOID:0080169|ICD10:Q22.4|MedDRA:10049767|OMIM:605067|HP:0011662|GARD:0005274|NCIT:C85202|MESH:D018785 owl:Class UBERON:0003863 biolink:NamedThing pedal digit 5 phalanx A phalanx that is part of a foot digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl phalanx of little toe|little toe phalanx|digit long bone of foot digit 5|phalanx of fifth toe|foot digit 5 digit long bone|long bone of digit of foot digit 5|hind limb digit 5 phalanx|phalanx of foot digit 5|pedal digit V phalanx|foot digit 5 long bone of digit|phalanx of fifth digit of foot|foot digit 5 phalanx owl:Class HGNC:10817 biolink:NamedThing SGPL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008978 biolink:NamedThing chordoma Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. tmpak2llvmy_mondo_relaxed.owl CHDM|chordoma|chordoma, susceptibility to|chordoma (disease)|notochordoma|chordoma, malignant|susceptibility to chordoma|notochordal sarcoma chordoma (disease) ONCOTREE:CHDM|DOID:3302|HP:0010762|UMLS:C0008487|OMIM:215400|ICDO:9370/3|MedDRA:10008747|ICD10:C76.7|NCIT:C2947|Orphanet:178|MESH:D002817|GARD:0001303 owl:Class HGNC:12692 biolink:NamedThing VIM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009062 biolink:NamedThing cystic fibrosis-gastritis-megaloblastic anemia syndrome A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. tmpak2llvmy_mondo_relaxed.owl cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|Lubani-Al Saleh-Teebi syndrome|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|cystic fibrosis gastritis megaloblastic anemia|Lubani Al Saleh Teebi syndrome MESH:C537039|Orphanet:2575|OMIM:219721|GARD:0003303|SCTID:720401009 owl:Class CHEBI:59698 biolink:NamedThing phosphoric acids Compounds containing one or more phosphoric acid units. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002185 biolink:NamedThing Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. tmpak2llvmy_mondo_relaxed.owl Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments UMLS:C0085400|SNOMEDCT_US:85775002|MSH:D016874 HP:0007070|HP:0003132 human_phenotype owl:Class HP:0100314 biolink:NamedThing Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022149 Inclusion bodies are usually derived from proteins. doelkens 2010-08-10T03:31:18Z human_phenotype owl:Class MONDO:0006656 biolink:NamedThing aortitis Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. tmpak2llvmy_mondo_relaxed.owl aorta inflammation|inflammation of aorta NCIT:C97085|MedDRA:10002921|EFO:1000816|SCTID:70933002|MESH:D001025|ICD10:I77.6|UMLS:C0003509|DOID:519 owl:Class MONDO:0003792 biolink:NamedThing ovarian carcinosarcoma A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. tmpak2llvmy_mondo_relaxed.owl ovarian malignant mixed Müllerian neoplasm|ovarian malignant mesodermal (mullerian) mixed tumor|malignant mixed mesodermal Müllerian neoplasm of ovary|carcinosarcoma of ovary|ovarian malignant mixed epithelial mesenchymal tumor|ovarian malignant mixed Müllerian tumor|ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mixed mesodermal Müllerian tumor|ovarian carcinosarcoma/malignant mixed mesodermal tumor|MMMT of the ovary|malignant mixed mesodermal Mullerian neoplasm of the ovary|malignant mixed Müllerian tumor of the ovary|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian MMMT|ovarian malignant mesodermal (Mullerian) mixed tumor|malignant mixed mesodermal Müllerian tumor of the ovary|ovary carcinosarcoma|ovarian malignant mixed mesodermal Mullerian neoplasm|malignant mixed mesodermal Mullerian tumor of ovary|malignant mixed mesodermal Müllerian tumor of ovary|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian carcinosarcoma|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed Mullerian tumor|ovarian malignant mixed mesodermal Müllerian neoplasm|ovarian malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal Mullerian tumor of the ovary|ovarian malignant mixed Mullerian neoplasm|carcinosarcoma of the ovary Orphanet:213512|ONCOTREE:OCS|DOID:6170|ICD10:C56|NCIT:C9192|UMLS:C0392998|EFO:1000412|GARD:0007296|SCTID:702368000 MONDO:0016247 owl:Class MONDO:0003812 biolink:NamedThing ovarian endometrial cancer A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpak2llvmy_mondo_relaxed.owl ovary endometrioid tumor|ovary female reproductive endometrioid cancer|ovarian endometrioid neoplasm|endometrioid neoplasm of ovary|malignant ovarian endometrioid tumor|endometrioid tumor of ovary UMLS:C1518231|DOID:6212|NCIT:C40051 owl:Class MONDO:0020081 biolink:NamedThing macrophage or histiocytic tumor tmpak2llvmy_mondo_relaxed.owl UMLS:CN206983|Orphanet:98288 owl:Class MONDO:0017701 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form tmpak2llvmy_mondo_relaxed.owl GSDIV, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GBE deficiency, adult neuromuscular form|glycogenosis type 4, adult neuromuscular form|GSD type 4, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form Orphanet:308712|UMLS:CN203601|ICD10:E74.0 owl:Class MONDO:0018942 biolink:NamedThing macrophagic myofasciitis tmpak2llvmy_mondo_relaxed.owl MMF|Macrophagic myofasciitis, childhood GARD:0000176|ICD10:M60.8|Orphanet:592|SCTID:718175009|UMLS:C2931639|MESH:C537829 https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis owl:Class MONDO:0016105 biolink:NamedThing acquired skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired skeletal muscle disease Orphanet:206638|UMLS:CN200878 owl:Class MONDO:0004716 biolink:NamedThing stomach carcinoma in situ A in situ carcinoma that involves the stomach. tmpak2llvmy_mondo_relaxed.owl stage 0 gastric cancer aJCC v6|stage 0 gastric carcinoma|gastric carcinoma, stage 0|stage 0 gastric (stomach) cancer|stage 0 carcinoma of stomach|gastric carcinoma in situ|stage 0 gastric cancer|stage 0 gastric carcinoma in situ|carcinoma in situ of the stomach|carcinoma of the stomach stage 0|stomach in situ carcinoma|stomach carcinoma stage 0|stage 0 stomach carcinoma|stomach carcinoma in situ|stage 0 gastric cancer aJCC v6 and v7|stage 0 gastric cancer aJCC v7|stage 0 carcinoma of the stomach|gastric carcinoma stage 0|carcinoma in situ of stomach|carcinoma of stomach stage 0|stage 0 stomach cancer NCIT:C7788|UMLS:C0154060|DOID:9138|SCTID:92756002|ICD10:D00.2|ICD9:230.2 owl:Class MONDO:0001114 biolink:NamedThing bacterial myocarditis Myocarditis that is caused by an infection with a bacterial agent. tmpak2llvmy_mondo_relaxed.owl septic myocarditis UMLS:C1384588|UMLS:C0155690|SCTID:64043005|NCIT:C128380|ICD10:I40.0|DOID:10779|ICD9:422.92 owl:Class MONDO:0006277 biolink:NamedThing lung lymphangioleiomyomatosis Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. tmpak2llvmy_mondo_relaxed.owl pulmonary lymphangiomyomatosis|lung lymphangioleiomyomatosis|lymphangioleiomyomatosis|lung lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis Orphanet:538|ICD10:D48.7|ONCOTREE:LAM|SCTID:277844007|MedDRA:10049459|NCIT:C38153|GARD:0003319|OMIM:606690|EFO:1000334|MESH:D018192|DOID:3319|ICD9:518.89 owl:Class MONDO:0007636 biolink:NamedThing frontorhiny Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed. tmpak2llvmy_mondo_relaxed.owl isolated median cleft face syndrome|FND1|frontonasal malformation|frontorhiny|ALX3-related frontonasal dysplasia|isolated median cleft syndrome|frontonasal dysplasia 1|median Facial cleft syndrome|frontonasal dysplasia|frontonasal dysplasia type 1 ICD10:Q75.8|OMIM:136760|GARD:0012642|NCIT:C129028|Orphanet:391474 owl:Class MONDO:0009630 biolink:NamedThing microphthalmia, isolated, with coloboma 4 tmpak2llvmy_mondo_relaxed.owl MCOPCB4|microphthalmia, isolated, with coloboma 4|microphthalmia, isolated, with coloboma type 4|microphthalmia with colobomatous cyst SCTID:715771008|UMLS:C1855053|OMIM:251505 owl:Class MONDO:0000170 biolink:NamedThing microphthalmia, isolated, with coloboma A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. tmpak2llvmy_mondo_relaxed.owl microphthalmia associated with colobomatous cyst|colobomatous microphthalmia|microphthalmia with colobomatous cyst|microphthalmia-anophthalmia-coloboma syndrome|microphthalmos bilateral, colobomatous orbital cyst|MAC|MCOPCB1 UMLS:CN228419|MESH:C537463|OMIMPS:300345|Orphanet:98938|GARD:0003644|ICD10:Q11.2 https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst owl:Class UBERON:0003480 biolink:NamedThing vein of clitoris A vein that is part of a clitoris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl clitoris vein owl:Class UBERON:0015003 biolink:NamedThing ulna endochondral element Major postaxial endrochondral skeletal element in the anterior zeugopod. tmpak2llvmy_mondo_relaxed.owl ulna element|ulna skeletal element owl:Class MONDO:0014836 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2CC Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease axonal type 2CC|Charcot-Marie-Tooth neuropathy, type 2Cc|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth disease, axonal, type 2CC|Charcot-Marie-Tooth neuropathy type 2CC|Charcot-Marie-Tooth disease, axonal, type 2cc|CMT2CC OMIM:616924|DOID:0110180|UMLS:C4310790 owl:Class MONDO:0004484 biolink:NamedThing gallbladder melanoma A melanoma that arises from the gallbladder. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of gallbladder|gall bladder melanoma (disease)|malignant melanoma of the gallbladder|gallbladder malignant melanoma|melanoma (disease) of gall bladder|melanoma of gallbladder|gallbladder melanoma|melanoma of the gallbladder|gall bladder melanoma DOID:8167|NCIT:C5735|UMLS:C1333749 owl:Class UBERON:0001611 biolink:NamedThing sublingual artery A branch of the lingual artery that supplies the sublingual gland. tmpak2llvmy_mondo_relaxed.owl sublingual branch of lingual artery|arteria sublingualis owl:Class MONDO:0019949 biolink:NamedThing zebra body myopathy tmpak2llvmy_mondo_relaxed.owl ICD9:359.89|UMLS:C0270969|Orphanet:97240|SCTID:34513009|ICD10:G71.2 owl:Class MONDO:0020768 biolink:NamedThing X-linked deafness tmpak2llvmy_mondo_relaxed.owl DFNX|deafness, X-linked, DFN|deafness, X-linked|X-linked deafness OMIMPS:304500|GARD:0001715 Note that this encompasses both syndromic and non-syndromic types. owl:Class MONDO:0006286 biolink:NamedThing major salivary gland mucoepidermoid carcinoma A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpak2llvmy_mondo_relaxed.owl major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of Major salivary gland|major salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Major salivary gland NCIT:C5906|UMLS:C1334551|EFO:1000346 owl:Class MONDO:0021009 biolink:NamedThing salivary gland mucoepidermoid carcinoma A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpak2llvmy_mondo_relaxed.owl salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland|mucoepidermoid carcinoma of the salivary gland|saliva-secreting gland mucoepidermoid carcinoma UMLS:C1335903|NCIT:C5908|SCTID:423708008 owl:Class MONDO:0009506 biolink:NamedThing specific granule deficiency tmpak2llvmy_mondo_relaxed.owl lactoferrin-deficient neutrophils|neutrophil lactoferrin deficiency|specific granule deficiency|neutrophil-specific granule deficiency|recurrent infection due to specific granule deficiency|SGD UMLS:C0398593|SCTID:234587000|Orphanet:169142|OMIMPS:245480|ICD10:D71|GARD:0010778|MESH:C562873 owl:Class MONDO:0024626 biolink:NamedThing defective phagocytic cell engulfment tmpak2llvmy_mondo_relaxed.owl defective phagocytic cell killing SCTID:234585008|UMLS:C0398742 owl:Class MONDO:0007654 biolink:NamedThing genu valgum, st. Helena familial tmpak2llvmy_mondo_relaxed.owl severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|St. Helena familial genu valgum|hereditary pubertal genu valgum|genu valgum, st Helena familial|genu valgum, hereditary pubertal|genu valgum, st. Helena familial GARD:0008429|MESH:C537685|UMLS:C1842052|OMIM:137370 https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial owl:Class MONDO:0016749 biolink:NamedThing tumor of cranial and spinal nerves tmpak2llvmy_mondo_relaxed.owl rare tumor of cranial and spinal nerves GARD:0012697|UMLS:CN201996|Orphanet:252057 https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves owl:Class MONDO:0018123 biolink:NamedThing intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. tmpak2llvmy_mondo_relaxed.owl autosomal recessive intellectual disability due to TRAPPC9 deficiency|intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Orphanet:352530|UMLS:CN204496|ICD10:Q04.8 owl:Class ECTO:9001695 biolink:NamedThing exposure to nutrient An exposure to nutrient. tmpak2llvmy_mondo_relaxed.owl exposure to nutrient owl:Class MONDO:0005047 biolink:NamedThing infertility disorder Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. tmpak2llvmy_mondo_relaxed.owl infertility|fertility disorders|infertile|sterile|sterility|Sterile EFO:0000545|NCIT:C3836|DOID:5223|MESH:D007246 Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting owl:Class MONDO:0004065 biolink:NamedThing intermediate cell type choroid melanoma Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpak2llvmy_mondo_relaxed.owl mixed cell melanoma of choroid|Intermediate cell type choroid melanoma|optic choroid intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of optic choroid NCIT:C6100|UMLS:C1334208|DOID:6996 owl:Class MONDO:0011426 biolink:NamedThing aceruloplasminemia Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. tmpak2llvmy_mondo_relaxed.owl hypoceruloplasminemia|aceruloplasminemia|familial apoceruloplasmin deficiency|hereditary ceruloplasmin deficiency|hemosiderosis, systemic, due to aceruloplasminemia|systemic hemosiderosis due to aceruloplasminemia|ceruloplasmin deficiency SCTID:124224004|DOID:0050711|Orphanet:48818|GARD:0009499|ICD10:G23.0|ICD9:277.6|OMIM:604290 https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia owl:Class MONDO:0013301 biolink:NamedThing aromatase deficiency Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. tmpak2llvmy_mondo_relaxed.owl congenital estrogen deficiency|aromatase deficiency|pseudohermaphroditism, female, due to placental aromatase deficiency GARD:0000365|Orphanet:91|UMLS:C1960539|NCIT:C120144|MESH:C537436|OMIM:613546|ICD10:E25.8 https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency owl:Class MONDO:0005356 biolink:NamedThing coronary vasospasm Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. tmpak2llvmy_mondo_relaxed.owl coronary artery spasm|coronary artery vasospasm|coronary vasospasm MESH:D003329|ICD9:413.9|DOID:11840|EFO:0004225|SCTID:23687008|UMLS:C0010073 owl:Class GO:0098531 biolink:NamedThing ligand-activated transcription factor activity A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors. tmpak2llvmy_mondo_relaxed.owl direct ligand regulated sequence-specific DNA binding transcription factor activity|transcription factor activity, direct ligand regulated sequence-specific DNA binding owl:Class CHEBI:48359 biolink:NamedThing protophilic solvent Solvent that is capable of acting as a hydron (proton) acceptor. tmpak2llvmy_mondo_relaxed.owl HBA solvent|protophilic solvent|hydrogen bond acceptor solvent owl:Class CHEBI:33303 biolink:NamedThing chalcogen Any p-block element belonging to the group 16 family of the periodic table. tmpak2llvmy_mondo_relaxed.owl group VI elements|Chalkogen|calcogeno|calcogenos|chalcogens|chalcogenes|anfigenos|anfigeno|Chalkogene|chalcogen|chalcogene|group 16 elements owl:Class UBERON:0010883 biolink:NamedThing forelimb cartilage element A cartilaginous condensation that has the potential to develop into a forelimb bone. tmpak2llvmy_mondo_relaxed.owl wing cartilaginous condensation|forelimb wing cartilaginous condensation owl:Class UBERON:0009752 biolink:NamedThing pancreas mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015235 biolink:NamedThing arachnodactyly-intellectual disability-dysmorphism syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients. tmpak2llvmy_mondo_relaxed.owl De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism GARD:0000764|Orphanet:1130|UMLS:CN197590|ICD10:Q87.8|SCTID:720502000 owl:Class MONDO:0017393 biolink:NamedThing blepharophimosis - intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl blepharophimosis syndrome Ohdo type|BMRS|blepharophimosis mental retardation syndromes|blepharophimosis intellectual disability syndromes|Young Simpson syndrome|SBBYS syndrome|Say Barber Biesecker Young-Simpson syndrome UMLS:CN203134|Orphanet:293642|GARD:0010892 owl:Class GO:0044058 biolink:NamedThing regulation of digestive system process Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017593 biolink:NamedThing juvenile amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. tmpak2llvmy_mondo_relaxed.owl juvenile Charcot disease|juvenile Lou Gehrig disease|amyotrophic lateral sclerosis, juvenile|JALS Orphanet:300605|ICD10:G12.2|UMLS:C3468114|GARD:0011901|UMLS:CN239582|SCTID:718555006 https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis owl:Class MONDO:0014555 biolink:NamedThing peeling skin syndrome type A Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. tmpak2llvmy_mondo_relaxed.owl generalized peeling skin syndrome type A|non-inflammatory peeling skin syndrome type A|peeling skin syndrome type 3|peeling skin syndrome 3|generalized deciduous skin type A|PSS type A|PSS3|non-inflammatory generalized peeling skin syndrome type A. ICD10:Q80.8|UMLS:C4015729|OMIM:616265|Orphanet:263548 owl:Class MONDO:0003685 biolink:NamedThing retroperitoneal germ cell neoplasm A germ cell tumor that involves the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl germ cell tumor of the retroperitoneum|germ cell neoplasm of retroperitoneum|retroperitoneal germ cell tumor|germ cell neoplasm of the retroperitoneum|germ cell tumor of retroperitoneum UMLS:C1335776|DOID:5874|NCIT:C6447 owl:Class NCBITaxon:39725 biolink:NamedThing Circovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:33340 biolink:NamedThing zinc group element atom tmpak2llvmy_mondo_relaxed.owl group 12 elements|zinc group elements|zinc group element owl:Class CHEBI:33561 biolink:NamedThing d-block element atom tmpak2llvmy_mondo_relaxed.owl d-block element|d-block elements owl:Class ENVO:01001677 biolink:NamedThing fluid interface layer A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001684 biolink:NamedThing interface layer A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007418 biolink:NamedThing Darwinian tubercle of pinna tmpak2llvmy_mondo_relaxed.owl Darwinian point of Pinna|Darwinian Notch|Darwinian tubercle of pinna UMLS:C2751189|OMIM:124400|OMIM:124300 Editor notes: OMIM treats this as two diseases owl:Class GO:0055080 biolink:NamedThing cation homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35620 biolink:NamedThing vasodilator agent A drug used to cause dilation of the blood vessels. tmpak2llvmy_mondo_relaxed.owl vasodilator agents|vasodilator owl:Class GO:2000679 biolink:NamedThing positive regulation of transcription regulatory region DNA binding Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11363 biolink:NamedThing STAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2578 biolink:NamedThing CYBB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012321 biolink:NamedThing Alzheimer disease 10 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease type 10|Alzheimer disease 10|Alzheimer disease familial 10|Alzheimer disease, familial, 10|Ad10|Alzheimer's disease 10|AD10|Alzheimer disease type 10 ICD10:G30|DOID:0110043|MESH:C566465|OMIM:609636|UMLS:C1864828 owl:Class MONDO:0015140 biolink:NamedThing early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. tmpak2llvmy_mondo_relaxed.owl EOFAD|early-onset familial autosomal dominant Alzheimer disease|early-onset, autosomal dominant Alzheimer disease ICD10:G30.0|UMLS:CN043596|Orphanet:1020|GARD:0012798 owl:Class GO:1901652 biolink:NamedThing response to peptide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010243 biolink:NamedThing response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpak2llvmy_mondo_relaxed.owl response to organic nitrogen owl:Class NCBITaxon:3749 biolink:NamedThing Malus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011062 biolink:NamedThing aprosencephaly cerebellar dysgenesis tmpak2llvmy_mondo_relaxed.owl aprosencephaly and cerebellar dysgenesis UMLS:C1832412|ICD10:Q04.3|Orphanet:1126|OMIM:601374|MESH:C563331 owl:Class MONDO:0017090 biolink:NamedThing midline cerebral malformation tmpak2llvmy_mondo_relaxed.owl Midline brain malformation Orphanet:268926|ICD10:Q04.8 owl:Class MONDO:0011331 biolink:NamedThing congenital chylothorax Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. tmpak2llvmy_mondo_relaxed.owl hydrothorax, congenital|chylothorax, congenital UMLS:C0340014|MESH:C535461|SCTID:233646003|DOID:0060646|ICD9:511.89|GARD:0010156|OMIM:603523|Orphanet:264688|ICD10:I89.8 https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital owl:Class GO:0072329 biolink:NamedThing monocarboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001712 biolink:NamedThing upper eyelid tmpak2llvmy_mondo_relaxed.owl palpebra superior|superior eyelid owl:Class MONDO:0003930 biolink:NamedThing non-invasive bladder urothelial carcinoma Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpak2llvmy_mondo_relaxed.owl stage 0 bladder urothelial carcinoma aJCC v7|stage 0 transitional cell carcinoma of urinary bladder|stage 0 urinary bladder transitional cell carcinoma|stage 0 transitional cell carcinoma of bladder|non-invasive bladder urothelial carcinoma|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 bladder urothelial carcinoma aJCC v6 and v7|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the bladder|stage 0 bladder urothelial cancer|stage 0 transitional cell carcinoma of the urinary bladder DOID:6571|UMLS:C1336089|NCIT:C6188 owl:Class HP:0011024 biolink:NamedThing Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl Abnormality of the GI tract|Digestive system disease|Gastrointestinal disease|Abnormality of the gastrointestinal tract UMLS:C0017178|SNOMEDCT_US:25374005|MSH:D005767|SNOMEDCT_US:53619000|UMLS:C0012242|MSH:D004066|SNOMEDCT_US:119292006|UMLS:C4023588 peter 2011-03-01T07:52:06Z human_phenotype owl:Class UBERON:0004833 biolink:NamedThing lip skeletal muscle A portion of skeletal muscle tissue that is part of a lip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle of lip|lip skeletal muscle tissue|skeletal muscle tissue of lip owl:Class MONDO:0001250 biolink:NamedThing keratomalacia An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia. tmpak2llvmy_mondo_relaxed.owl SCTID:85149007|ICD9:371.45|ICD10:H18.44|UMLS:C0152455|GARD:0006825|DOID:11267|MESH:C536156 owl:Class MONDO:0009968 biolink:NamedThing renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss tmpak2llvmy_mondo_relaxed.owl renal tubular acidosis progressive nerve deafness|RTA with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss|renal tubular acidosis type 1b|AR dRTA wth deafness|autosomal recessive distal renal tubular acidosis with deafness|AR dRTA with hearing loss|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis with deafness|autosomal recessive distal renal tubular acidosis with hearing loss|distal renal tubular acidosis co-occurrent with sensorineural deafness|renal tubular acidosis, distal, with progressive nerve deafness UMLS:C0403554|Orphanet:93611|UMLS:C4302514|OMIM:267300|SCTID:236532003|ICD9:588.89|SCTID:722468005|ICD9:389.8|MESH:C562897|GARD:0004666 owl:Class GO:0009583 biolink:NamedThing detection of light stimulus The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of light|detection of light owl:Class MONDO:0014998 biolink:NamedThing glaucoma 3, primary congenital, E tmpak2llvmy_mondo_relaxed.owl glaucoma 3, primary congenital, E; GLC3E|glaucoma 3, primary congenital, type E|GLC3E|glaucoma 3, primary congenital, E OMIM:617272|UMLS:C4310639 owl:Class MONDO:0008808 biolink:NamedThing aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl ACC with intestinal lymphangiectasia|aplasia cutis congenita intestinal lymphangiectasia|aplasia cutis congenita with intestinal lymphangiectasia|Bronspiegel-Zelnick syndrome|autosomal recessive aplasia cutis MESH:C537788|OMIM:207731|SCTID:720500008|GARD:0000753|Orphanet:1116 owl:Class MONDO:0024277 biolink:NamedThing neonatal thrombocytopenia tmpak2llvmy_mondo_relaxed.owl neonatal purpura|purpura of newborn|neonatal thrombocytopenia MESH:D054098|SCTID:82835005 owl:Class MONDO:0003311 biolink:NamedThing endometrial stromal tumor Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal). tmpak2llvmy_mondo_relaxed.owl endometrial stromal tumor|neoplasm of endometrial stroma|endometrial stromal neoplasm|endometrial stroma tumor|tumor of endometrial stroma|endometrial stroma neoplasm|endometrial stromal tumor (morphologic abnormality) UMLS:C0334695|ICD9:239.5|SCTID:446887007|MESH:D036821|EFO:1000920|DOID:5166 owl:Class CHEBI:33429 biolink:NamedThing monoatomic monoanion tmpak2llvmy_mondo_relaxed.owl monoatomic monoanions owl:Class MONDO:0005401 biolink:NamedThing colonic neoplasm A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl neoplasm of colon|colon neoplasm (disease)|colonic neoplasm|tumor of the colon|colonic tumor|tumor of colon|colon tumor|neoplasm of the colon|colon neoplasm NCIT:C2953|EFO:0004288|MESH:D003110|UMLS:C0009375 owl:Class MONDO:0005119 biolink:NamedThing anthrax infection An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. tmpak2llvmy_mondo_relaxed.owl anthrax disease|Bacillus anthracis infectious disease|Bacillus anthracis disease or disorder|Bacillus anthracis caused disease or disorder|anthrax ICD9:022|GARD:0008157|ICD9:022.9|UMLS:C0003175|SCTID:409498004|NCIT:C84565|DOID:7427|ICD9:022.8|ICD10:A22.9|EFO:0000778|ICD10:A22|MESH:D000881 Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax owl:Class HP:0002538 biolink:NamedThing Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cerebral cortex UMLS:C4025701 The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. human_phenotype owl:Class MONDO:0009669 biolink:NamedThing spinal muscular atrophy, type 1 Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy, type I|severe infantile spinal muscular atrophy|infantile muscular atrophy|SMA type I|spinal muscular atrophy 1|hereditary motor neuropathy proximal type I|spinal muscular atrophies of childhood|Werdnig-Hoffman disease|Werdnig-Hoffmann disease|Sma 1|progressive muscular atrophy of infancy|muscular atrophy, infantile|HMN (hereditary motor neuropathy) proximal type I|Werdnig Hoffmann disease|Sma, infantile acute form|survival motor neuron spinal muscular atrophy|proximal spinal muscular atrophy, type 1|SMA type 1|proximal spinal muscular atrophy type 1|SMA1|infantile spinal muscular atrophy|SMA-I GARD:0007883|DOID:0060160|NCIT:C98670|OMIM:253300|SCTID:64383006|ICD10:G12.0|Orphanet:83330|DOID:13137|ICD9:335.0|ICD9:335.11 owl:Class MONDO:0007947 biolink:NamedThing Marfan syndrome A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. tmpak2llvmy_mondo_relaxed.owl Marfan's syndrome|MFS|Marfan syndrome|Marfan syndrome type 1|MFS1|Marfan syndrome, type 1 MESH:D008382|UMLS:CN202883|ICD10:Q87.4|SCTID:19346006|Orphanet:284963|ICD10:Q87.40|MedDRA:10026829|NCIT:C34807|OMIM:154700|Orphanet:558|UMLS:C0024796|DOID:14323|ICD9:759.82|GARD:0006975 Contractural arachnodactyly https://github.com/monarch-initiative/mondo/issues/3155|https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome owl:Class UBERON:0004117 biolink:NamedThing pharyngeal pouch An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. tmpak2llvmy_mondo_relaxed.owl visceral pouches|visceral pouch|branchial pouch|pharyngeal pouches owl:Class MONDO:0011876 biolink:NamedThing juvenile absence epilepsy Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. tmpak2llvmy_mondo_relaxed.owl JAE|epilepsy, juvenile absence, susceptibility to, type 1|epilepsy, juvenile absence, susceptibility to, 1|susceptibility to juvenile absence epilepsy 1|EJA1|epilepsy juvenile absence NCIT:C129868|SCTID:230413002|GARD:0002162|OMIMPS:607631|DOID:0060172|UMLS:C4317339|ICD10:G40.3|Orphanet:1941 owl:Class UBERON:0008188 biolink:NamedThing tendon of biceps brachii A tendon that attaches_to a biceps brachii. tmpak2llvmy_mondo_relaxed.owl biceps brachii tendon|tendon of biceps brachii muscle owl:Class MONDO:0000871 biolink:NamedThing T-cell childhood acute lymphocytic leukemia An acute lymphoblastic leukemia of T-cell origin occurring in children. tmpak2llvmy_mondo_relaxed.owl T-cell pediatric acute lymphocytic leukemia|childhood T acute lymphoblastic leukemia|childhood precursor T-lymphoblastic leukemia|T-cell pediatric ALL|childhood T-ALL|T-cell childhood ALL|T-cell childhood acute lymphoblastic leukemia|childhood T-cell acute lymphoblastic leukemia|T acute lymphoblastic leukemia|T-cell childhood acute lymphocytic leukemia|T-cell pediatric acute lymphoblastic leukemia UMLS:C0279583|DOID:0080145|EFO:1001947|NCIT:C7953 owl:Class MONDO:0004963 biolink:NamedThing T-cell acute lymphoblastic leukemia Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl acute T cell lymphoblastic leukemia|acute T cell leukemia|T-cell ALL|precursor T-lymphoblastic leukemia (T-cell ALL)|T-cell type acute leukemia|acute T cell lymphocytic leukemia|T-ALL|T acute lymphoblastic leukemia|precursor T-lymphoblastic leukemia|T-cell acute lymphocytic leukemia|acute T-cell lymphocytic leukemia|acute T-cell lymphoblastic leukemia|acute T-cell leukemia|T-cell acute lymphoblastic leukemia EFO:0000209|ICDO:9837/3|NCIT:C3183|HGNC:5056 owl:Class MONDO:0019735 biolink:NamedThing polymyalgia rheumatica A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. tmpak2llvmy_mondo_relaxed.owl rhizomelic pseudopolyarthritis|polymyalgia rheumatica ICD10:M35.3|DOID:853|NCIT:C85018|ICD9:725|UMLS:C1527406|SCTID:65323003|MedDRA:10068240|MESH:D011111|UMLS:C0032533|Orphanet:93569|GARD:0004704 owl:Class UBERON:0008811 biolink:NamedThing intromittent organ An external organ of a male organism that is specialized to deliver sperm during copulation. Intromittent organs are found most often in terrestrial species, as most aquatic species fertilize their eggs externally, although there are exceptions[WP]. tmpak2llvmy_mondo_relaxed.owl copulatory organ|penis|aedeagus owl:Class UBERON:0003135 biolink:NamedThing male reproductive organ A male organ involved in reproduction tmpak2llvmy_mondo_relaxed.owl male organism reproductive structure|male organism reproductive organ|reproductive organ of male organism|reproductive system organ of male organism|male genital|male organism sex organ|male sex organ|male reproductive gland/organ|male organism reproductive system organ|male reproductive system organ|reproductive structure of male organism|sex organ of male organism owl:Class MONDO:0012933 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 2 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. tmpak2llvmy_mondo_relaxed.owl breast-ovarian cancer, familial, susceptibility to, type 2|breast cancer, familial, susceptibility to, 2|susceptibility to familial breast-ovarian cancer 2|ovarian cancer, familial, susceptibility to, 2|BROVCA2|BRCA2 hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|breast-ovarian cancer, familial, susceptibility to, 2 OMIM:612555 owl:Class MONDO:0014051 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. tmpak2llvmy_mondo_relaxed.owl CEMCOX2|fatal infantile encephalocardiomyopathy caused by mutation in COX15|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 DOID:0080358|UMLS:C3554534|OMIM:615119 owl:Class MONDO:0015487 biolink:NamedThing fatal infantile encephalocardiomyopathy Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. tmpak2llvmy_mondo_relaxed.owl cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|fatal infantile encephalomyopathy|fatal infantile COX deficiency Orphanet:1561|SCTID:718124006|ICD10:G71.3|DOID:0050713|GARD:0001113 Editor note: check GARD xref https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy owl:Class GO:0140537 biolink:NamedThing transcription regulator activator activity A molecular function regulator that increases the activity of a transcription regulator via direct binding and/or post-translational modification. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010698 biolink:NamedThing optic atrophy 2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. tmpak2llvmy_mondo_relaxed.owl optic atrophy, non-Leber type, with early onset|OPA2|optic atrophy 2|non-Leber type optic atrophy with early-onset|optic atrophy, X-linked|optic atrophy type 2 UMLS:C1839576|MESH:C537125|GARD:0010199|SCTID:721200000|OMIM:311050|Orphanet:98890|DOID:0111443|ICD10:H47.2 owl:Class CL:1000492 biolink:NamedThing mesothelial cell of parietal pleura A mesothelial cell that is part of the parietal pleura. tmpak2llvmy_mondo_relaxed.owl FMA:86738 cell owl:Class CL:1000491 biolink:NamedThing mesothelial cell of pleura A mesothelial cell that is part of the pleura. tmpak2llvmy_mondo_relaxed.owl pleural mesothelial cell FMA:86737 cell owl:Class GO:0042737 biolink:NamedThing drug catabolic process The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. tmpak2llvmy_mondo_relaxed.owl drug catabolism|drug degradation|drug breakdown owl:Class GO:0017144 biolink:NamedThing drug metabolic process The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. tmpak2llvmy_mondo_relaxed.owl drug metabolism owl:Class GO:2000382 biolink:NamedThing positive regulation of mesoderm development Any process that activates or increases the frequency, rate or extent of mesoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004180 biolink:NamedThing mammary gland fat The mammary fat is an adipose structure in the gland that is invaded by the mammary ducts tmpak2llvmy_mondo_relaxed.owl fatty tissue of lactiferous gland|fat tissue of mammary gland|fat tissue of lactiferous gland|lactiferous gland adipose tissue|lobe of breast fat tissue|fatty tissue of lobe of mammary gland|mammary gland fatty tissue|mammary gland adipose tissue|lobe of breast fatty tissue|lobe of breast adipose tissue|fatty tissue of lobe of breast|mammary gland fat tissue|fatty tissue of mammary gland|lobe of mammary gland adipose tissue|lactiferous gland fatty tissue|lobe of mammary gland fatty tissue|lactiferous gland fat tissue|fat tissue of lobe of breast|adipose tissue of lactiferous gland|adipose tissue of mammary gland|lobe of mammary gland fat tissue|fat tissue of lobe of mammary gland owl:Class UBERON:0011332 biolink:NamedThing extrinsic tongue pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019341 biolink:NamedThing tuberous sclerosis complex A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. tmpak2llvmy_mondo_relaxed.owl tuberous sclerosis|Bourneville syndrome|Bourneville's syndrome MedDRA:10045138|GARD:0000946|ICD10:Q85.1|Orphanet:805|GARD:0007830 owl:Class UBERON:0011826 biolink:NamedThing vestibular gland Lobular organ the parenchyma of which consists of glandular acini which communicate with the vestibule of vagina. Examples: right vestibular gland, lesser vestibular gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015751 biolink:NamedThing craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. tmpak2llvmy_mondo_relaxed.owl Capra-DeMarco syndrome|Berant syndrome|familial scaphocephaly-radioulnar synostosis syndrome SCTID:720815000|UMLS:C3267187|ICD10:Q87.8|Orphanet:171839 owl:Class ENVO:01000799 biolink:NamedThing astronomical body An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. tmpak2llvmy_mondo_relaxed.owl celestial body owl:Class GO:0004972 biolink:NamedThing NMDA glutamate receptor activity An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. tmpak2llvmy_mondo_relaxed.owl NMDA receptor|N-methyl-D-aspartate selective glutamate receptor activity owl:Class GO:0022843 biolink:NamedThing voltage-gated cation channel activity Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0072522 biolink:NamedThing purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpak2llvmy_mondo_relaxed.owl purine and derivative biosynthetic process|purine-containing compound synthesis|purine-containing compound biosynthesis|purine-containing compound anabolism|purine-containing compound formation owl:Class MONDO:0006798 biolink:NamedThing hypervitaminosis A A symptom complex resulting from ingesting excessive amounts of vitamin A. tmpak2llvmy_mondo_relaxed.owl hypervitaminosis type A SCTID:64559002|UMLS:C0020579|DOID:9972|ICD10:E67.0|EFO:1000978|ICD9:278.2|MedDRA:10020916|MESH:D006986 owl:Class MONDO:0006367 biolink:NamedThing pharyngeal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the pharynx|pharynx adenoid cystic carcinoma|adenoid cystic carcinoma of pharynx NCIT:C5818|EFO:1000472|UMLS:C1335399 owl:Class NCBITaxon:2743694 biolink:NamedThing Cyprininae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7953 biolink:NamedThing Cyprinidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010330 biolink:NamedThing primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness 2022-02-01 MESH:C567595|Orphanet:247522|OMIM:300455|UMLS:C2749137 Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term. https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0006467 biolink:NamedThing thyroid gland squamous cell carcinoma A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. tmpak2llvmy_mondo_relaxed.owl thyroid gland squamous cell carcinoma|squamous cell thyroid gland carcinoma UMLS:C1710177|NCIT:C46008|EFO:1000594 owl:Class MONDO:0005496 biolink:NamedThing bile duct carcinoma A carcinoma that arises from epithelial cells of the bile duct tmpak2llvmy_mondo_relaxed.owl bile duct cancer (including cholangiocarcinoma)|bile duct carcinoma|carcinoma of bile duct|bile duct cancer UMLS:C0740277|DOID:4897|NCIT:C27814|EFO:0005540 owl:Class GO:0150075 biolink:NamedThing negative regulation of protein-glutamine gamma-glutamyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020064 biolink:NamedThing pulmonary valve agenesis Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 tmpak2llvmy_mondo_relaxed.owl PVA|pulmonary valves agenesis|congenital absence of the pulmonary valve|absent pulmonary valve syndrome ICD10:Q22.2|Orphanet:982|GARD:0004597|SCTID:6996004 owl:Class CHEBI:60798 biolink:NamedThing excitatory amino acid antagonist Any substance which inhibits the action of receptors for excitatory amino acids. tmpak2llvmy_mondo_relaxed.owl excitatory amino acid antagonists|EAA receptor antagonists|excitatory amino acid receptor antagonist|EAA receptor antagonist|excitatory amino acid receptor antagonists owl:Class MONDO:0018711 biolink:NamedThing intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN242088|Orphanet:457365 owl:Class UBERON:0004341 biolink:NamedThing primitive streak The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP] tmpak2llvmy_mondo_relaxed.owl primitive streak - blastopore - germ ring owl:Class UBERON:0000485 biolink:NamedThing simple columnar epithelium Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA] tmpak2llvmy_mondo_relaxed.owl simple columnar epithelium|columnar epithlium|columnar epithelium|epithelium simplex columnare|simple columnar epithelia owl:Class MONDO:0032903 biolink:NamedThing arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum tmpak2llvmy_mondo_relaxed.owl Zain Syndrome|AMCNACC|arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum OMIM:618766 owl:Class MONDO:0007085 biolink:NamedThing alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Shokeir syndrome|alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea UMLS:C1863090|ICD10:Q87.8|MESH:C537057|SCTID:720980004|OMIM:104130|Orphanet:1008|GARD:0000607 owl:Class MONDO:0019836 biolink:NamedThing congenital anomaly of hepatic vein tmpak2llvmy_mondo_relaxed.owl Orphanet:95507|ICD10:Q26.8 owl:Class MONDO:0017828 biolink:NamedThing primary renal tubular acidosis tmpak2llvmy_mondo_relaxed.owl Orphanet:314822|ICD10:N25.8 owl:Class UBERON:0002211 biolink:NamedThing nerve root A continuation of the neuron projection bundle component of a nerve inside, crossing or immediately outside the central nervous system. tmpak2llvmy_mondo_relaxed.owl initial segment of nerve|radix nervi owl:Class MONDO:0012575 biolink:NamedThing branchiootorenal syndrome 2 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. tmpak2llvmy_mondo_relaxed.owl branchiootorenal syndrome type 2|branchiootorenal syndrome 2|branchio-oto-renal syndrome caused by mutation in SIX5|BOR2|SIX5 branchio-oto-renal syndrome UMLS:C1970479|DOID:0111424|OMIM:610896 owl:Class UBERON:0000091 biolink:NamedThing bilaminar disc A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. tmpak2llvmy_mondo_relaxed.owl embryonic shield|bilaminary germ disc|germinal disc|germinal disk|embryonic disc|bilaminary embryonic disc|bilaminar disk owl:Class GO:0002893 biolink:NamedThing negative regulation of type II hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity. tmpak2llvmy_mondo_relaxed.owl down regulation of type II hypersensitivity|inhibition of type II hypersensitivity|downregulation of type II hypersensitivity|down-regulation of type II hypersensitivity owl:Class GO:0002890 biolink:NamedThing negative regulation of immunoglobulin mediated immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpak2llvmy_mondo_relaxed.owl inhibition of immunoglobulin mediated immune response|down-regulation of immunoglobulin mediated immune response|down regulation of immunoglobulin mediated immune response|downregulation of immunoglobulin mediated immune response owl:Class MONDO:0042963 biolink:NamedThing wandering spleen A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly. tmpak2llvmy_mondo_relaxed.owl floating spleen|floating spleens|splenic Ptoses|spleen, floating|displaced spleens|splenic ptosis|Splenoptoses|displaced spleen|splenoptosis|spleen, drifting|wandering spleens|drifting spleens|spleen, displaced|spleens, wandering|Ptoses, splenic|ptosis, splenic|wandering spleen|drifting spleen|spleen, wandering|spleens, floating|spleens, drifting|spleens, displaced GARD:0000328|NCIT:C85224|MEDGEN:75782|SCTID:191384005|MESH:D050805|UMLS:C0272414 owl:Class UBERON:0018544 biolink:NamedThing trigeminal nerve muscle Muscle innervated by the trigeminal nerve (Cranial Nerve V). tmpak2llvmy_mondo_relaxed.owl muscle innervated by the trigeminal nerve|muscles innervated by the trigeminal nerve owl:Class MONDO:0008167 biolink:NamedThing dermoid cyst of ovary A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. tmpak2llvmy_mondo_relaxed.owl ovary dermoid cyst|ovarian dermoid cyst|teratoma, ovarian|dermoid cyst, ovarian|dermoid cyst (& [ovarian])|dermoid cyst of ovary|dermoid cyst of the ovary NCIT:C3856|UMLS:C0237020|DOID:5117|MESH:C562731|OMIM:166950 owl:Class CHEBI:36277 biolink:NamedThing bile acid salt A salt of a bile acid. tmpak2llvmy_mondo_relaxed.owl bile acid salts owl:Class CHEBI:24868 biolink:NamedThing organic salt tmpak2llvmy_mondo_relaxed.owl organisches Salz|organic salts owl:Class MONDO:0002857 biolink:NamedThing gallbladder sarcoma A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of gallbladder|gallbladder sarcoma|sarcoma of gall bladder|sarcoma of the gallbladder|gall bladder sarcoma|malignant mesenchymal tumor of gallbladder NCIT:C5736|DOID:4058|UMLS:C1333757 owl:Class MONDO:0004158 biolink:NamedThing pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. tmpak2llvmy_mondo_relaxed.owl pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic invasive mucinous cystadenocarcinoma|pancreatic mucinous cystic neoplasm with an associated invasive carcinoma DOID:7236|UMLS:C1518870|NCIT:C41246|ICDO:8470/3 owl:Class MONDO:0004156 biolink:NamedThing pancreatic mucinous cystadenocarcinoma A mucinous cystadenocarcinoma that involves the pancreas. tmpak2llvmy_mondo_relaxed.owl colloid Cystadencarcinoma of the pancreas|pancreatic colloid cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|pancreatic colloidal Cystadencarcinoma|colloidal Cystadencarcinoma of pancreas|colloidal Cystadencarcinoma of the pancreas|colloid Cystadencarcinoma of pancreas|mucinous Cystadencarcinoma of the pancreas|pancreatic mucinous cystadenocarcinoma DOID:7234|UMLS:C1335308|NCIT:C5713 owl:Class MONDO:0009053 biolink:NamedThing ALDH18A1-related de Barsy syndrome ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. tmpak2llvmy_mondo_relaxed.owl cutis laxa, corneal clouding, and mental retardation|P5CS deficiency|progeroid syndrome of De Barsy|De Barsy syndrome a|cutis laxa, corneal clouding, and intellectual disability|cutis laxa, autosomal recessive, type 3A|cutis laxa, autosomal recessive, type IIIA|neurocutaneous syndrome, Bicknell type|autosomal recessive cutis laxa type IIIA|Delta-1-pyrroline 5-carboxylate synthetase deficiency|ARCL3A|De Barsy syndrome A ICD9:371.89|Orphanet:35664|OMIM:219150|ICD10:Q82.8|SCTID:59252009|ICD10:Q87.8|DOID:0070132 owl:Class CL:1000412 biolink:NamedThing endothelial cell of arteriole An endothelial cell that is part of the arteriole. tmpak2llvmy_mondo_relaxed.owl KUPO:0001097|FMA:67760 cell owl:Class PATO:0001396 biolink:NamedThing cellular quality A monadic quality of continuant that exists at the cellular level of organisation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006297 biolink:NamedThing maxillary sinus adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the maxillary sinus|adenoid cystic carcinoma of maxillary sinus NCIT:C6239|UMLS:C1334643|EFO:1000365|DOID:7198 owl:Class MONDO:0001748 biolink:NamedThing maxillary sinus carcinoma A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the maxillary sinus|malignant neoplasm of maxillary sinus|cancer of maxillary sinus|malignant neoplasm of the maxillary sinus|malignant neoplasm of antrum|carcinoma of maxillary sinus|malignant tumor of maxillary sinus|malignant maxillary sinus tumor|maxillary sinus cancer|maxillary sinus carcinoma|malignant maxillary sinus neoplasm ICD9:160.2|NCIT:C9332|NCIT:C3540|DOID:1357|ICD10:C31.0|SCTID:363425008 owl:Class MONDO:0004880 biolink:NamedThing bowel dysfunction Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. tmpak2llvmy_mondo_relaxed.owl disease of lower digestive tract|lower digestive tract disease ICD10:K59.9|DOID:9779|ICD9:564.9|UMLS:C2004461|SCTID:235594008 owl:Class UBERON:0004365 biolink:NamedThing vitelline blood vessel blood vessel that is connected to the yolk sac. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011246 biolink:NamedThing megaconial type congenital muscular dystrophy tmpak2llvmy_mondo_relaxed.owl megaconial type congenital muscular dystrophy|megaconial congénital muscular dystrophy|megaconial congenital muscular dystrophy|MDCMC|congenital muscular dystrophy with mitochondrial structural abnormalities|muscular dystrophy, congenital, megaconial type|muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital megaconial myopathy DOID:0110632|GARD:0010317|OMIM:602541|UMLS:C1865233|MESH:C566527|Orphanet:280671|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type owl:Class MONDO:0018120 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227267|Orphanet:352312 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class MONDO:0006935 biolink:NamedThing pulmonary subvalvular stenosis The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. tmpak2llvmy_mondo_relaxed.owl congenital infundibular stenosis|infundibular pulmonic stenosis, congenital|infundibular pulmonic stenosis|pulmonary infundibular stenosis|subvalvular pulmonic stenosis ICD9:746.83|NCIT:C34961|MESH:D011662|DOID:8861|SCTID:204370002|ICD10:Q24.3|EFO:1001137 owl:Class MONDO:0006936 biolink:NamedThing pulmonary valve stenosis The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. tmpak2llvmy_mondo_relaxed.owl MESH:D011666|EFO:1001138|DOID:6420|MedDRA:10037450 owl:Class PATO:0000150 biolink:NamedThing texture A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1786 biolink:NamedThing CDKN1C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013357 biolink:NamedThing chromosome 17q11.2 deletion syndrome, 1.4Mb 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. tmpak2llvmy_mondo_relaxed.owl neurofibromatosis type 1 microdeletion syndrome|Del(17)(q11)|NF1 microduplication syndrome|17q11 microdeletion syndrome|chromosome 17q11.2 deletion syndrome, 1.4-MB|Van Asperen syndrome|neurofibromatosis 1 microdeletion syndrome|chromosome 17q11.2 deletion syndrome|monosomy 17q11|NF1 microdeletion syndrome DOID:0060403|MESH:C563524|Orphanet:97685|OMIM:613675|GARD:0005408|ICD10:Q85.0 owl:Class CHEBI:76870 biolink:NamedThing EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*). tmpak2llvmy_mondo_relaxed.owl EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors|EC 1.9.3.* inhibitor|EC 1.9.3.* inhibitors owl:Class CHEBI:76736 biolink:NamedThing EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*). tmpak2llvmy_mondo_relaxed.owl EC 1.9.* inhibitor|EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|EC 1.9.* inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors owl:Class MONDO:0005467 biolink:NamedThing occupation-related stress disorder The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope. tmpak2llvmy_mondo_relaxed.owl EFO:0005250|Wikipedia:Occupational_stress|SCTID:10586006 https://github.com/monarch-initiative/mondo/issues/3061 owl:Class CHEBI:50511 biolink:NamedThing bipyridines Compounds containing a bipyridine group. tmpak2llvmy_mondo_relaxed.owl bipyridyls owl:Class CHEBI:36820 biolink:NamedThing ring assembly Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved. tmpak2llvmy_mondo_relaxed.owl ring assembly|ring assemblies owl:Class GO:0015695 biolink:NamedThing organic cation transport The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003437 biolink:NamedThing eyelid nerve A nerve that innervates an eyelid. tmpak2llvmy_mondo_relaxed.owl blepharon nerve|palpebral nerve|nerve of blepharon|nerve of eyelid owl:Class MONDO:0007172 biolink:NamedThing atrial septal defect 1 An atrial heart septal defect type 1 associated with variation in the region 5p. tmpak2llvmy_mondo_relaxed.owl ASD 2|atrial septal defect, primum type|ASD 1|atrial septal defect 1|atrial heart septal defect type 1|ASD1|atrial septal defect, secundum type OMIM:108800|ICD10:Q21.1|UMLS:C1862389|DOID:0110106 owl:Class MONDO:0016447 biolink:NamedThing white fibrous papulosis of the neck White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226935|Orphanet:228290 owl:Class MONDO:0021202 biolink:NamedThing allergic otitis media A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. tmpak2llvmy_mondo_relaxed.owl allergic form of otitis media (disease)|allergic otitis media (disease) SCTID:26169004|UMLS:C0271447 owl:Class HGNC:7146 biolink:NamedThing TRPM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024613 biolink:NamedThing bipolar depression The depressive stage of bipolar disorder. tmpak2llvmy_mondo_relaxed.owl manic-depressive - now depressed|bipolar depression|bipolar affective disorder, current episode depression NCIT:C34424|SCTID:191627008 owl:Class MONDO:0009151 biolink:NamedThing cleft lip/palate-ectodermal dysplasia syndrome An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. tmpak2llvmy_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|margarita type of ectodermal dysplasia|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, margarita Island type|ectodermal dysplasia, type 4|cleft lip-palate-ectodermal dysplasia syndrome|CLEPD|cleft lip/palate-syndactyly-pili torti|Zlotogora-Ogur syndrome|syndactyly-ectodermal dysplasia-cleft/lip palate|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia type 4|orofacial cleft 7|Zlotogora-Zilberman-Tenenbaum syndrome|ED4|cleft lip/palate-ectodermal dysplasia syndrome|autosomal recessive ectodermal dysplasia|CLPED1|Zlotogora syndrome|ectodermal dysplasia margarita island type SCTID:716248001|Orphanet:3253|GARD:0001045|UMLS:CN229116|DOID:0080400|OMIM:225060|Orphanet:320317|NCIT:C122656|GARD:0000375|DOID:0060773 owl:Class MONDO:0014294 biolink:NamedThing chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). tmpak2llvmy_mondo_relaxed.owl 15q11.2 microdeletion|chromosome 15q11.2 deletion|15q11.2 BP1-BP2 microdeletion syndrome|monosomy 15q11.2|chromosome 15q11.2 deletion syndrome|15q11.2 microdeletion syndrome|Del(15)(q11.2)|chromosome 15q11.2 microdeletion GARD:0010525|Orphanet:261183|ICD10:Q93.5|OMIM:615656|DOID:0060393|UMLS:C3180937 owl:Class UBERON:0000443 biolink:NamedThing left testicular vein A vein that drains the right pampiniform plexus and empties into the inferior vena cava. tmpak2llvmy_mondo_relaxed.owl vena testicularis sinistra|vena testicularis dextra|left spermatic vein owl:Class MONDO:0007495 biolink:NamedThing dystonia 5 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. tmpak2llvmy_mondo_relaxed.owl dystonia, progressive, with diurnal variation|Segawa syndrome, autosomal dominant|Dopa-responsive dystonia, autosomal dominant|GTPCH1-deficient dopa-responsive dystonia|DYT5a|dystonia, Dopa-responsive, autosomal dominant|dystonia-Parkinsonism with diurnal fluctuation|Dopa-responsive dystonia; Segawa syndrome AD|dystonia, DOPA-responsive|DRD|autosomal dominant Segawa syndrome|autosomal dominant dopa-responsive dystonia|GTP cyclohydrolase 1-deficient dopa-responsive dystonia|HPD with marked diurnal fluctuation|hereditary progressive dystonia with marked diurnal fluctuation|GTPCH1-deficient DRD|dystonia 5|DYT-GCH1|dystonia type 5 ICD10:G24.1|UMLS:CN207122|GARD:0012144|DOID:0090043|OMIM:128230|Orphanet:98808|SCTID:715768000 owl:Class MONDO:0017756 biolink:NamedThing disorder of pterin metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:CN227201|Orphanet:309819 owl:Class MONDO:0014144 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|limb-girdle muscular dystrophy type 2S|LGMD2S|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2S UMLS:C3809236|GARD:0012543|DOID:0110287|ICD10:G71.0|Orphanet:369840|OMIM:615356 owl:Class MONDO:0018243 biolink:NamedThing intellectual disability-hyperkinetic movement-truncal ataxia syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:G71.0|Orphanet:369847|UMLS:CN204803 owl:Class OBO:CHR_9606-chr20q biolink:NamedThing chr20q (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:0010192 biolink:NamedThing Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. tmpak2llvmy_mondo_relaxed.owl WS4A|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg-Shah syndrome|Waardenburg syndrome caused by mutation in EDNRB|EDNRB Waardenburg syndrome|Waardenburg syndrome type IVA|Waardenburg syndrome type 4A|Waardenburg syndrome with Hirschsprung disease, type 4A|Ws4|Waardenburg syndrome, type 4A|Shah-Waardenburg syndrome OMIM:277580|DOID:0110953 owl:Class MONDO:0018820 biolink:NamedThing recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. tmpak2llvmy_mondo_relaxed.owl TANGO2 deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration|MECRCN|transport and golgi organization protein 2 (TANGO2) deficiency Orphanet:480864|OMIM:616878|UMLS:C4225171|GARD:0013423|UMLS:CN776869 https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias owl:Class GO:0043231 biolink:NamedThing intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl intracellular membrane-enclosed organelle owl:Class MONDO:0016501 biolink:NamedThing Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. tmpak2llvmy_mondo_relaxed.owl HPS with pulmonary fibrosis ICD10:E70.3|Orphanet:231500|UMLS:CN201506 owl:Class MONDO:0020308 biolink:NamedThing benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. tmpak2llvmy_mondo_relaxed.owl late-onset benign childhood occipital epilepsy ICD10:G40.0|UMLS:CN207128|Orphanet:98816 owl:Class MONDO:0007558 biolink:NamedThing benign occipital epilepsy Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. tmpak2llvmy_mondo_relaxed.owl epilepsy, benign occipital|BOE GARD:0002170|ICD10:G40.0|OMIM:132090|UMLS:C1851549|Orphanet:25968 https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital owl:Class MONDO:0021447 biolink:NamedThing benign neoplasm of testis A benign neoplasm that involves the testis. tmpak2llvmy_mondo_relaxed.owl benign testicular neoplasm|testis benign neoplasm|benign neoplasm of the testis|benign tumor of the testis|benign testicular tumor|benign tumor of testis ICD9:222.0|UMLS:C0154007|NCIT:C3612|SCTID:92428008 owl:Class MONDO:0010017 biolink:NamedThing sea-blue histiocyte syndrome A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. tmpak2llvmy_mondo_relaxed.owl SEA-blue histiocyte disease|histiocytosis, Sea-blue|sea-blue histiocytosis|inherited Lipemic splenomegaly DOID:4423|UMLS:C0036489|NCIT:C85062|OMIM:269600|SCTID:37821003|GARD:0008241|Orphanet:158029|ICD10:D76.3|EFO:1001170|MESH:D012618 owl:Class MONDO:0015531 biolink:NamedThing non-Langerhans cell histiocytosis Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). tmpak2llvmy_mondo_relaxed.owl non-Langerhans-cell histiocytosis|histiocytosis, non-Langerhans-cell Orphanet:157987|MESH:D015616|UMLS:C0019624|SCTID:127069007|GARD:0008231|ICD9:288.4|ICD10:D76.3|DOID:4330 owl:Class MONDO:0042962 biolink:NamedThing Slti-Salem syndrome tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism alopecia|Slti Salem syndrome|hypogonadism and frontoparietal alopecia GARD:0000324|MESH:C536673|MEDGEN:419036|UMLS:C2931284 owl:Class MONDO:0100403 biolink:NamedThing acute myeloid leukemia, loss of chromosome 17p Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).) tmpak2llvmy_mondo_relaxed.owl AML, del(17p)|AML, loss of chromosome 17p owl:Class UBERON:0005908 biolink:NamedThing conjunctival sac A serous sac which is the aggregate of the conjunctiva plus the conjunctival space tmpak2llvmy_mondo_relaxed.owl subbrillar sac|conjunctiva serous sac owl:Class CHEBI:139590 biolink:NamedThing primary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. tmpak2llvmy_mondo_relaxed.owl primary alpha-hydroxy ketones|primary alpha-hydroxy-ketones|primary alpha-hydroxyketone|primary alpha-hydroxyketones|primary alpha-hydroxy-ketone owl:Class UBERON:0009978 biolink:NamedThing epicondyle . tmpak2llvmy_mondo_relaxed.owl epicondylus owl:Class UBERON:0015179 biolink:NamedThing somite boundary epithelium Epithelium located in the intersomitic region. tmpak2llvmy_mondo_relaxed.owl intersomitic membrane|intersomitic epithelium owl:Class CHEBI:36902 biolink:NamedThing chalcogen hydride tmpak2llvmy_mondo_relaxed.owl chalcogen hydrides|chalcogen hydride owl:Class CHEBI:33304 biolink:NamedThing chalcogen molecular entity Any p-block molecular entity containing a chalcogen. tmpak2llvmy_mondo_relaxed.owl chalcogen molecular entity|chalcogen compounds|chalcogen molecular entities owl:Class UBERON:0036068 biolink:NamedThing subglottis The lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea. tmpak2llvmy_mondo_relaxed.owl subglottic region|infraglottic part of larynx|subglottic larynx owl:Class MONDO:0018015 biolink:NamedThing intermittent hydrarthrosis tmpak2llvmy_mondo_relaxed.owl Orphanet:329967|ICD10:M12.4|UMLS:C0149910|SCTID:711286009 owl:Class UBERON:0003445 biolink:NamedThing pes nerve A nerve that is part of a foot [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of foot|foot nerve owl:Class MONDO:0009902 biolink:NamedThing cutaneous porphyria Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. tmpak2llvmy_mondo_relaxed.owl porphyria, congenital erythropoietic|Cep|erythropoietic porphyria|cutaneous porphyria|uroporphyrinogen III synthase, deficiency of|congenital porphyria|uroporphyrinogen 3 synthase deficiency|CEP|Günther disease|Uros deficiency|Gunther disease|congenital erythropoietic porphyria MESH:D017092|OMIM:263700|DOID:13271|GARD:0004446|Orphanet:79277|ICD10:E80.0|SCTID:67312003|NCIT:C84697 owl:Class MONDO:0016757 biolink:NamedThing malignant triton tumor Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation. tmpak2llvmy_mondo_relaxed.owl malignant Triton tumour|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|MTT|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyoblastic differentiation|MPNST with rhabdomyosarcoma|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|MPNST with rhabdomyosarcomatous differentiation ICDO:9561/3|UMLS:C0334616|DOID:6707|NCIT:C4335|ICD9:171.9|SCTID:404040002|Orphanet:252212 owl:Class MONDO:0017827 biolink:NamedThing malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. tmpak2llvmy_mondo_relaxed.owl malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant neurilemmoma|neurofibrosarcoma|MPNST|neurogenic sarcoma|malignant peripheral nerve sheath tumor|malignant peripheral nerve sheath neoplasm|malignant tumor of the peripheral nerve sheath|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant peripheral nerve sheath tumour|malignant neurofibroma|malignant neoplasm of the peripheral nerve sheath|malignant schwannoma|schwannoma, malignant|malignant neurilemoma|malignant tumor of peripheral nerve sheath|Malig. periph. nerve sheath tum.|neurofibrosarcoma, malignant|malignant neoplasm of peripheral nerve sheath ONCOTREE:MPNST|ICDO:9540/3|ICD9:171.9|SCTID:404037002|UMLS:C0751690|GARD:0010872|ICDO:9560/3|MedDRA:10029236|NCIT:C3798|DOID:5940|ICD10:C47.9|Orphanet:3148 owl:Class HGNC:12718 biolink:NamedThing VRK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015021 biolink:NamedThing hypotonia, ataxia, and delayed development syndrome tmpak2llvmy_mondo_relaxed.owl HADDS|hypotonia, ataxia, and delayed development syndrome; HADDS|hypotonia, ataxia, and delayed development syndrome OMIM:617330|UMLS:C4310618 owl:Class MONDO:0013810 biolink:NamedThing COG6-CGD tmpak2llvmy_mondo_relaxed.owl COG6-CDG (CDG-IIL)|CDGIIl|CDG2L|CDG IIL|CDG-IIL|congenital disorder of glycosylation, type IIL|CDG syndrome type IIL|congenital disorder of glycosylation type IIL|congenital disorder of glycosylation type 2l ICD10:E77.8|GARD:0010944|OMIM:614576|UMLS:C3553230|DOID:0070264|Orphanet:464443 owl:Class MONDO:0008812 biolink:NamedThing AREDYLD syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl acral renal ectodermal dysplasia lipoatrophic diabetes|AREDYLD|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes|acrorenal defect-ectodermal dysplasia-diabetes syndrome ICD9:753.3|UMLS:C0342280|SCTID:237610008|GARD:0008509|OMIM:207780|Orphanet:1133|MESH:C537427|ICD10:Q87.8 owl:Class NCBITaxon:234 biolink:NamedThing Brucella tmpak2llvmy_mondo_relaxed.owl PMID:28066370|PMID:8573514|GC_ID:11 ncbi_taxonomy owl:Class GO:0048845 biolink:NamedThing venous blood vessel morphogenesis The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. tmpak2llvmy_mondo_relaxed.owl venous morphogenesis|vein morphogenesis owl:Class MONDO:0036870 biolink:NamedThing lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl neoplasm of the lymphatic vessel|tumor of lymph vessel|tumor of the lymph vessel|lymph vessel neoplasm|tumor of lymphatic vessel|lymphatic vessel tumor|lymph vessel tumor|lymphatic vessel neoplasm|neoplasm of lymphatic vessel|neoplasm of lymph vessel|neoplasm of the lymph vessel|tumor of the lymphatic vessel NCIT:C3723|UMLS:C0206619 owl:Class MONDO:0018385 biolink:NamedThing osteochondrosis of genetic origin An instance of osteochondrosis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic osteochondrosis Orphanet:399391|ICD10:M93.9 owl:Class MONDO:0011688 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5|muscular dystrophy, congenital, FKRP-related|muscular dystrophy, congenital, 1C|MDDGB5|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|FKRP-related congenital muscular dystrophy|congenital muscular dystrophy-FKRP related|MDC1C|congenital muscular dystrophy 1C Orphanet:52428|MESH:C564691|UMLS:C1847759|OMIM:606612|ICD10:G71.2|DOID:0110635 owl:Class MONDO:0700066 biolink:NamedThing myopathy caused by varation in FKRP Any myopathy in which the cause of the disease is a varation in the FKRP gene. tmpak2llvmy_mondo_relaxed.owl FKRP-related myopathy|myopathy caused by mutation in FKRP|FKRP myopathy http://orcid.org/0000-0002-4142-7153 owl:Class ENVO:09200013 biolink:NamedThing wetness of soil The wetness of some soil. tmpak2llvmy_mondo_relaxed.owl soil wetness owl:Class PATO:0001822 biolink:NamedThing wetness A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019964 biolink:NamedThing thymic neuroendocrine tumor Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. tmpak2llvmy_mondo_relaxed.owl thymus neuroendocrine neoplasm|thymus neuroendocrine tumor|neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor, well differentiated, low or intermediate grade|thymus NET ICD10:D38.4|Orphanet:97289|ONCOTREE:TNET|UMLS:CN206887 owl:Class GO:1901401 biolink:NamedThing regulation of tetrapyrrole metabolic process Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of tetrapyrrole metabolism owl:Class MONDO:0014091 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4|ATP5F1A mitochondrial complex deficiency|MC5DN4|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4|mitochondrial complex deficiency caused by mutation in ATP5F1A|mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type UMLS:C3808899|ICD10:E88.8|OMIM:615228|DOID:0060333 owl:Class MONDO:0017692 biolink:NamedThing generalized galactose epimerase deficiency tmpak2llvmy_mondo_relaxed.owl generalized GALE deficiency|generalized epimerase deficiency galactosemia|generalized GALE-D|generalized UDP-galactose-4-epimerase deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency SCTID:297237003|ICD10:E74.2|Orphanet:308487|UMLS:C0574089 owl:Class MONDO:0009257 biolink:NamedThing galactose epimerase deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. tmpak2llvmy_mondo_relaxed.owl epimerase deficiency galactosemia|GALE deficiency|galactosemia 3|uridine diphosphate galactose-4-epimerase deficiency|GALE-D|Gale deficiency|UDP-galactose-4-epimerase deficiency|galactose epimerase deficiency|galactosemia type 3 ICD10:E74.2|Orphanet:79238|SCTID:8849004|OMIM:230350|GARD:0005392|DOID:0111458 https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency owl:Class MONDO:0032775 biolink:NamedThing neurodevelopmental disorder with seizures and speech and walking impairment tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT|NEDSSWI OMIM:618480 owl:Class MONDO:0006238 biolink:NamedThing growth hormone-producing pituitary gland adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. tmpak2llvmy_mondo_relaxed.owl growth hormone producing adenoma of the pituitary|Somatotrophinoma|growth hormone-producing pituitary gland adenoma|growth hormone producing pituitary gland adenoma|growth hormone secreting adenoma of the pituitary|growth hormone secreting adenoma of pituitary gland|GH cell adenoma|growth hormone secreting pituitary gland adenoma|growth hormone producing adenoma of pituitary|somatotropic adenoma|growth hormone producing pituitary adenoma|growth hormone secreting adenoma of the pituitary gland|somatotroph adenoma|growth hormone producing adenoma of pituitary gland|somatotrope adenoma|growth hormone-producing adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone secreting pituitary adenoma|growth hormone secreting adenoma of pituitary NCIT:C7461|DOID:6255|ICD10:D35.2|EFO:1000287|SCTID:254957009|EFO:0004125|ICD10:E22.0|Orphanet:96256 MONDO:0005332 owl:Class HP:0010950 biolink:NamedThing Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. tmpak2llvmy_mondo_relaxed.owl Abnormality of the fourth ventricle UMLS:C4023630 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. peter 2011-01-17T12:58:00Z human_phenotype owl:Class MONDO:0008908 biolink:NamedThing MGAT2-CDG MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). tmpak2llvmy_mondo_relaxed.owl CDG IIa|carbohydrate-deficient glycoprotein syndrome, type II, formerly|CDG-IIa|Alkuraya syndrome|congenital disorder of glycosylation type IIa|CDG 2A|intellectual disability, Growth retardation, prominent columella, and open mouth|CDG syndrome type IIa|mental retardation, Growth retardation, prominent columella, and open mouth|carbohydrate-deficient glycoprotein syndrome type 2|congenital disorder of glycosylation type 2a|carbohydrate deficient glycoprotein syndrome type IIa|carbohydrate-deficient glycoprotein syndrome, type II|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|CDGS2|congenital disorder of glycosylation, type IIa|CDG2A|MGAT2-CDG (CDG-IIa) ICD10:E77.8|DOID:0070253|MESH:C535752|OMIM:212066|GARD:0009828|UMLS:C2931008|SCTID:724142005|Orphanet:79329 owl:Class MONDO:0012971 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 7 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene. tmpak2llvmy_mondo_relaxed.owl proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 7|microvascular complications of diabetes, susceptibility to, type 7|nonproliferative retinopathy, diabetic, susceptibility to|HFE microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in HFE|MVCD7|nephropathy, diabetic, susceptibility to OMIM:612635 owl:Class MONDO:0016319 biolink:NamedThing congenital insensitivity to pain with hyperhidrosis tmpak2llvmy_mondo_relaxed.owl congenital analgesia with hyperhidrosis|congenital absence of pain with hyperhidrosis|congenital indifference to pain with hyperhidrosis ICD10:G90.8|Orphanet:217399 owl:Class MONDO:0006393 biolink:NamedThing rectal traditional serrated adenoma An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. tmpak2llvmy_mondo_relaxed.owl rectal serrated adenoma type II|rectal serrated adenoma|rectal traditional serrated adenoma|rectal TSA EFO:1000503|NCIT:C96463|UMLS:C3272790 owl:Class MONDO:0008577 biolink:NamedThing toe, misshapen tmpak2llvmy_mondo_relaxed.owl toe, misshapen OMIM:189100 owl:Class MONDO:0009210 biolink:NamedThing congenital factor V deficiency Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. tmpak2llvmy_mondo_relaxed.owl labile factor deficiency|congenital factor V deficiency|hereditary factor V deficiency|labile Factor deficiency|hereditary hypoproaccelerinaemia|Parahemophilia|Owren disease|deficiency, labile|factor 5 deficiency|Proaccelerin deficiency|hereditary Factor V deficiency|factor V deficiency|Owren Parahemophilia MedDRA:10048930|DOID:2216|UMLS:C0015499|SCTID:88776002|OMIM:227400|ICD10:D68.2|GARD:0002237|Orphanet:326|MESH:D005166|NCIT:C98938 https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency owl:Class UBERON:0001257 biolink:NamedThing trigone of urinary bladder the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa tmpak2llvmy_mondo_relaxed.owl bladder trigone|vesical trigone|deep trigone|trigone of bladder|Lieutaud's trigone|urinary bladder trigone|trigonum vesicae|trigonum vesicae urinariae|dorsal bladder neck|musculus trigoni vesicae profundus owl:Class UBERON:0005000 biolink:NamedThing mucosa of common bile duct A mucosa that is part of a common bile duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of common bile duct|ductus choledochus (biliaris) mucosa of organ|common bile duct mucous membrane|ductus choledochus (biliaris) mucous membrane|ductus choledochus (biliaris) organ mucosa|mucosa of organ of ductus choledochus (biliaris)|mucous membrane of common bile duct|ductus choledochus (biliaris) mucosa|common bile ductal mucosa|mucosa of ductus choledochus (biliaris)|organ mucosa of common bile duct|mucous membrane of ductus choledochus (biliaris)|common bile duct mucosa|common bile duct organ mucosa|common bile duct mucosa of organ|organ mucosa of ductus choledochus (biliaris) owl:Class CL:0000738 biolink:NamedThing leukocyte An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpak2llvmy_mondo_relaxed.owl leucocyte|white blood cell|immune cell FMA:62852|BTO:0000751|CALOHA:TS-0549 cell owl:Class UBERON:0013139 biolink:NamedThing ligament of liver A nonskeletal ligament that is part of a liver. tmpak2llvmy_mondo_relaxed.owl hepatic ligament|liver ligament owl:Class GO:0051956 biolink:NamedThing negative regulation of amino acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl down-regulation of amino acid transport|negative regulation of amino acid transmembrane transport|inhibition of amino acid transport|downregulation of amino acid transport|down regulation of amino acid transport owl:Class MONDO:0020542 biolink:NamedThing malignant Sertoli-Leydig cell tumor of ovary Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. tmpak2llvmy_mondo_relaxed.owl ovarian malignant Sertoli-Leydig cell tumor|Androblastoma|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell cancer|malignant Sertoli-Leydig cell tumor of the ovary|ovarian Sertoli-Leydig cell tumor, malignant|malignant ovarian Sertoli-Leydig cell tumor|Arrhenoblastoma|malignant ovarian sertoli-Leydig cell tumor|virilizing ovarian tumor ICD9:239.5|UMLS:C0342515|SCTID:237795006|Orphanet:99916|UMLS:CN207443|ICD10:C56 owl:Class MONDO:0013335 biolink:NamedThing tuberculin skin test reactivity, absence of tmpak2llvmy_mondo_relaxed.owl tuberculin skin test reactivity, absence of|Tst1|tst reactivity, absence of OMIM:613636 owl:Class MONDO:0015997 biolink:NamedThing ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl ectopia lentis chorioretinal dystrophy myopia|noble-Bass-Sherman syndrome|noble Bass Sherman syndrome MESH:C536124|Orphanet:1884|GARD:0003999|ICD10:Q15.8|SCTID:722437006 owl:Class MONDO:0021243 biolink:NamedThing parotid gland neoplasm A neoplasm (disease) that involves the parotid gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of parotid|parotid neoplasm|neoplasm of the parotid gland|parotid gland tumor|neoplasm of the parotid|tumor of parotid gland|tumor of the parotid|tumor of parotid|parotid gland neoplasm (disease)|neoplasm of parotid gland|parotid tumor|tumor of the parotid gland SCTID:126788000|EFO:0003873|NCIT:C3314 owl:Class MONDO:0034146 biolink:NamedThing spastic ataxia-dysarthria due to glutaminase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:557056 owl:Class MONDO:0020049 biolink:NamedThing autosomal anomaly A chromosomal anomaly that involves an autosome. tmpak2llvmy_mondo_relaxed.owl chromosomal anomaly of autosome|autosome chromosomal anomaly UMLS:CN227743|Orphanet:98127 owl:Class UBERON:1100000 biolink:NamedThing digestive tract junction An anatomical junction between two parts of the digestive tract. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:62215 biolink:NamedThing allelochemical A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory. tmpak2llvmy_mondo_relaxed.owl allelochemicals owl:Class CL:2000040 biolink:NamedThing bladder microvascular endothelial cell Any microvascular endothelial cell that is part of a urinary bladder. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:04:47Z cell owl:Class MONDO:0015687 biolink:NamedThing chronic eosinophilic leukemia tmpak2llvmy_mondo_relaxed.owl ICD10:D47.5|UMLS:C0346421|MedDRA:10065854|Orphanet:168940|SCTID:188733003|DOID:0080367|MESH:C580364 owl:Class CHEBI:58951 biolink:NamedThing short-chain fatty acid anion Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). tmpak2llvmy_mondo_relaxed.owl a short-chain fatty acid|short-chain fatty acid anions owl:Class CHEBI:28868 biolink:NamedThing fatty acid anion The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid. tmpak2llvmy_mondo_relaxed.owl Fatty acid anion|fatty acid anions|Fettsaeureanionen|acido graso anionico|Fettsaeureanion|acidos grasos anionicos|Alkanate|anion de l'acide gras|a fatty acid owl:Class MONDO:0016477 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microdeletion tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.3|UMLS:CN201472|Orphanet:231127 owl:Class MONDO:0030864 biolink:NamedThing Ritscher-Schinzel syndrome 3 tmpak2llvmy_mondo_relaxed.owl RTSC3|Ritscher-Schinzel syndrome 3 OMIM:619135 owl:Class SO:0001506 biolink:NamedThing variant_genome A collection of sequences (often chromosomes) of an individual. tmpak2llvmy_mondo_relaxed.owl variant genome owl:Class SO:0001026 biolink:NamedThing genome A genome is the sum of genetic material within a cell or virion. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1654 biolink:NamedThing Actinomyces tmpak2llvmy_mondo_relaxed.owl Actinocladothrix|Discomyces GC_ID:11|PMID:30186281 ncbi_taxonomy owl:Class NCBITaxon:2049 biolink:NamedThing Actinomycetaceae tmpak2llvmy_mondo_relaxed.owl PMID:19244447|PMID:30186281|GC_ID:11|PMID:16558803 ncbi_taxonomy owl:Class MONDO:0010779 biolink:NamedThing mitochondrial non-syndromic sensorineural deafness tmpak2llvmy_mondo_relaxed.owl deafness, nonsyndromic sensorineural, mitochondrial|deafness, isolated, due to mitochondrial transmission|isolated mitochondrial neurosensory deafness|isolated mitochondrial sensorineural deafness|mitochondrial non-syndromic neurosensory deafness GARD:0001709|DOID:0111751|OMIM:500008|ICD10:H90.3|Orphanet:90641 owl:Class UBERON:0012242 biolink:NamedThing internal urethral orifice the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone tmpak2llvmy_mondo_relaxed.owl vesicourethral orifice|internal urethral ostium|ostium orificium internum|ostium urethrae internum|internal urinary meatus|orificium urethrae internum|internal meatus of urethra|internal urethral orifice of urinary bladder owl:Class NCBITaxon:1131492 biolink:NamedThing Aspergillaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5042 biolink:NamedThing Eurotiales tmpak2llvmy_mondo_relaxed.owl Elaphomycetales|green and blue molds GC_ID:1 NCBITaxon:36045 ncbi_taxonomy owl:Class MONDO:0017524 biolink:NamedThing polydactyly of a biphalangeal thumb, bilateral tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly type 1, bilateral UMLS:CN203255|Orphanet:295146|ICD10:Q69.1 owl:Class MONDO:0023290 biolink:NamedThing grix Blankenship Peterson syndrome tmpak2llvmy_mondo_relaxed.owl craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation GARD:0002567 https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome owl:Class GO:0060101 biolink:NamedThing negative regulation of phagocytosis, engulfment Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045806 biolink:NamedThing negative regulation of endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. tmpak2llvmy_mondo_relaxed.owl downregulation of endocytosis|down-regulation of endocytosis|inhibition of endocytosis|down regulation of endocytosis owl:Class UBERON:0009292 biolink:NamedThing embryonic nasal process tmpak2llvmy_mondo_relaxed.owl nasal placode owl:Class UBERON:0034709 biolink:NamedThing hindbrain marginal layer tmpak2llvmy_mondo_relaxed.owl MZH|marginal zone of hindbrain owl:Class MONDO:0006947 biolink:NamedThing renovascular hypertension High blood pressure secondary to renal artery stenosis. tmpak2llvmy_mondo_relaxed.owl renovascular hypertension (disease)|renovascular hypertension renovascular hypertension (disease) HP:0100817|ICD10:I15.0|UMLS:C0020545|DOID:1591|ICD9:405.91|SCTID:123799005|EFO:1001153 owl:Class MONDO:0001105 biolink:NamedThing renal hypertension Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. tmpak2llvmy_mondo_relaxed.owl renovascular hypertension EFO:1002039|DOID:1073|MESH:D006977|UMLS:C0020544|SCTID:28119000 owl:Class CHEBI:33402 biolink:NamedThing sulfur oxoacid tmpak2llvmy_mondo_relaxed.owl sulfur oxoacids|oxoacids of sulfur owl:Class MONDO:0015044 biolink:NamedThing mu-heavy chain disease Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). tmpak2llvmy_mondo_relaxed.owl mu heavy chain disease|mu chain disease|mu-HCD Orphanet:100024|ICD10:C88.2|SCTID:61493004|NCIT:C3892|ICD9:273.2|DOID:0060128 owl:Class MONDO:0009850 biolink:NamedThing periodontitis, chronic, adult tmpak2llvmy_mondo_relaxed.owl periodontitis, chronic|periodontitis, adult SCTID:74797001|OMIM:260950|UMLS:C0266929 owl:Class GO:0104004 biolink:NamedThing cellular response to environmental stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011410 biolink:NamedThing Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly MESH:C565817|OMIM:604211|UMLS:C1858696 owl:Class MONDO:0001045 biolink:NamedThing intestinal atresia A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. tmpak2llvmy_mondo_relaxed.owl intestinal atresia|intestinal atresia (disease)|congenital intestinal atresia|atresia of the intestine intestinal atresia (disease) ICD10:Q41.1|DOID:10486|HP:0011100|UMLS:C0021828|NCIT:C84790 owl:Class MONDO:0013757 biolink:NamedThing congenital nongoitrous hypothryoidism 6 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. tmpak2llvmy_mondo_relaxed.owl CHNG6|hypothyroidism, congenital, nongoitrous, type 6|congenital nongoitrous hypothyroidism 6|hypothyroidism, congenital, nongoitrous, 6|THRA hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous caused by mutation in THRA UMLS:C3280817|ICD10:E03.1|DOID:0070128|OMIM:614450 owl:Class MONDO:0019995 biolink:NamedThing peripheral resistance to thyroid hormones Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl UMLS:C4273673|SCTID:718193005|UMLS:CN206931|ICD10:E03.1|Orphanet:97927|GARD:0012734 https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones owl:Class MONDO:0017218 biolink:NamedThing septopreoptic holoprosencephaly Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. tmpak2llvmy_mondo_relaxed.owl Septopreoptic HPE Orphanet:280195|ICD10:Q04.2|UMLS:CN202699 owl:Class GO:0009201 biolink:NamedThing ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleoside triphosphate synthesis|ribonucleoside triphosphate biosynthesis|ribonucleoside triphosphate formation|ribonucleoside triphosphate anabolism owl:Class GO:0009142 biolink:NamedThing nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl nucleoside triphosphate anabolism|nucleoside triphosphate formation|nucleoside triphosphate biosynthesis|nucleoside triphosphate synthesis owl:Class MONDO:0003480 biolink:NamedThing pineal region dysgerminoma A dysgerminoma (disease) that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal region dysgerminoma|pineal dysgerminoma|pineal body dysgerminoma (disease) DOID:5510|NCIT:C7169|UMLS:C1335415 owl:Class MONDO:0021655 biolink:NamedThing secondary catabolic mucinosis of skin tmpak2llvmy_mondo_relaxed.owl UMLS:C1274173|SCTID:402723003|ICD9:701.8 owl:Class HP:0001274 biolink:NamedThing Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. tmpak2llvmy_mondo_relaxed.owl Callosal agenesis|Corpus callosum agenesis|Agenesis of the corpus callosum|Absent corpus callosum|Dysplastic or absent corpus callosum|Absence of corpus callosum UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085|Fyler:4321 HP:0006800 human_phenotype owl:Class HP:0007370 biolink:NamedThing Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl Hypoplasia or absence of the corpus callosum|Agenesis/hypoplastic corpus callosum|Absent/hypoplastic corpus callosum|Complete or partial absence of the corpus callosum|Hypoplastic or absent corpus callosum UMLS:C1861866 peter 2008-04-01T10:35:00Z HP:0007003|HP:0007060|HP:0007061|HP:0007137 human_phenotype owl:Class MONDO:0005911 biolink:NamedThing pharyngoconjunctival fever A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. tmpak2llvmy_mondo_relaxed.owl Adenoviral pharyngoconjunctivitis|pharyngo-conjunctival fever|pharyngoconjunctival fever DOID:13801|EFO:0007434|NCIT:C34924|MESH:D000258|UMLS:C0031351|SCTID:70385007|ICD9:077.2 owl:Class GO:0050818 biolink:NamedThing regulation of coagulation Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpak2llvmy_mondo_relaxed.owl regulation of clotting owl:Class GO:1901361 biolink:NamedThing organic cyclic compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. tmpak2llvmy_mondo_relaxed.owl organic cyclic compound degradation|organic cyclic compound catabolism|organic cyclic compound breakdown owl:Class MONDO:0018101 biolink:NamedThing familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. tmpak2llvmy_mondo_relaxed.owl SCTID:725031005|ICD10:E83.4|Orphanet:34527|UMLS:C4510731|UMLS:CN204443 owl:Class MONDO:0017401 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, left dominant form tmpak2llvmy_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form ICD10:I42.8|Orphanet:293888|UMLS:CN203145 owl:Class MONDO:0006179 biolink:NamedThing desmoplastic ameloblastoma An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands. tmpak2llvmy_mondo_relaxed.owl desmoplastic ameloblastoma NCIT:C39758|EFO:1000215|UMLS:C0457533 owl:Class MONDO:0003569 biolink:NamedThing cranial nerve neuropathy A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. tmpak2llvmy_mondo_relaxed.owl disease of cranial neuron projection bundle|cranial nerve disorder|disease or disorder of cranial neuron projection bundle|cranial neuron projection bundle disease or disorder|disorder of cranial neuron projection bundle|cranial nerve disease|cranial neuron projection bundle disease|cranial neuropathy|disorder of cranial nerve UMLS:C0010266|MESH:D003389|SCTID:73013002|NCIT:C26733|ICD9:352.9|ICD10:G52.9|DOID:5656 owl:Class CHEBI:35274 biolink:NamedThing ammonium ion derivative A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). tmpak2llvmy_mondo_relaxed.owl azanium ion derivative|ammonium ion derivatives|azanium ion derivatives owl:Class HGNC:2076 biolink:NamedThing CLN5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004276 biolink:NamedThing fourth ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fourth ventricle epithelium of choroid plexus|chorioid plexus of cerebral hemisphere epithelial tissue of fourth ventricle|epithelium of choroid plexus of fourth ventricle|chorioid plexus of cerebral hemisphere epithelium of fourth ventricle|fourth ventricle chorioid plexus of cerebral hemisphere epithelial tissue|choroid plexus epithelial tissue of fourth ventricle|fourth ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of choroid plexus of fourth ventricle|choroid plexus epithelium of fourth ventricle|fourth ventricle chorioid plexus of cerebral hemisphere epithelium|epithelium of chorioid plexus of cerebral hemisphere of fourth ventricle|fourth ventricle epithelial tissue of choroid plexus|fourth ventricle choroid plexus epithelial tissue|epithelial tissue of chorioid plexus of cerebral hemisphere of fourth ventricle|fourth ventricle epithelial tissue of chorioid plexus of cerebral hemisphere owl:Class ENVO:3100033 biolink:NamedThing pressure of water The pressure of some water. tmpak2llvmy_mondo_relaxed.owl water pressure owl:Class MONDO:0014352 biolink:NamedThing abdominal obesity-metabolic syndrome 3 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. tmpak2llvmy_mondo_relaxed.owl central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|abdominal obesity-metabolic syndrome type 3|metabolic syndrome caused by mutation in DYRK1B|abdominal obesity-metabolic syndrome 3|AOMS3|DYRK1B metabolic syndrome OMIM:615812|UMLS:C4014361|DOID:0060612 owl:Class GO:0050680 biolink:NamedThing negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. tmpak2llvmy_mondo_relaxed.owl downregulation of epithelial cell proliferation|down-regulation of epithelial cell proliferation|inhibition of epithelial cell proliferation|down regulation of epithelial cell proliferation owl:Class MONDO:0012690 biolink:NamedThing Noonan syndrome 5 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. tmpak2llvmy_mondo_relaxed.owl RAF1 gene related Noonan syndrome|Noonan syndrome type 5|Noonan syndrome 5|RAF1 Noonan syndrome|Noonan syndrome caused by mutation in RAF1|NS5 DOID:0060583|UMLS:C1969057|OMIM:611553|GARD:0010700|MESH:C548083 https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 owl:Class MONDO:0008986 biolink:NamedThing circumvallate placenta syndrome tmpak2llvmy_mondo_relaxed.owl circumvallate placenta syndrome MESH:C565847|OMIM:215550|UMLS:C1859089 owl:Class UBERON:0006810 biolink:NamedThing olecranon The olecranon is a large, thick, curved bony eminence of the forearm that projects behind the elbow. It is situated at the upper (proximal) end of the ulna, one of the two bones in the forearm. When the hand faces forward the olecranon faces towards the back (posteriorly). It is bent forward at the summit so as to present a prominent lip which is received into the olecranon fossa of the humerus in extension of the forearm. Its base is contracted where it joins the body and the narrowest part of the upper end of the ulna. Its posterior surface, directed backward, is triangular, smooth, subcutaneous, and covered by a bursa. Its superior surface is of quadrilateral form, marked behind by a rough impression for the insertion of the Triceps brachii; and in front, near the margin, by a slight transverse groove for the attachment of part of the posterior ligament of the elbow-joint. Its anterior surface is smooth, concave, and forms the upper part of the semilunar notch. Its borders present continuations of the groove on the margin of the superior surface; they serve for the attachment of ligaments, viz. , the back part of the ulnar collateral ligament medially, and the posterior ligament laterally. From the medial border a part of the Flexor carpi ulnaris arises; while to the lateral border the anconeus muscle is attached. tmpak2llvmy_mondo_relaxed.owl olecranon process|ulnar process|olecranon process of ulna owl:Class GO:0022607 biolink:NamedThing cellular component assembly The aggregation, arrangement and bonding together of a cellular component. tmpak2llvmy_mondo_relaxed.owl cell structure assembly|cellular component assembly at cellular level owl:Class MONDO:0012023 biolink:NamedThing autosomal dominant nonsyndromic deafness 49 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23. tmpak2llvmy_mondo_relaxed.owl DFNA49|deafness, autosomal dominant 49|autosomal dominant nonsyndromic deafness type 49|autosomal dominant deafness 49 UMLS:C1842136|MESH:C564250|OMIM:608372|DOID:0110572|ICD10:H90.3 owl:Class MONDO:0003293 biolink:NamedThing lung leiomyoma A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl lung leiomyoma|leiomyoma of the lung|pulmonary leiomyoma|leiomyoma of lung NCIT:C5660|DOID:5136|UMLS:C1334447|SCTID:707374005 owl:Class IAO:8000020 biolink:NamedThing EL++ ontology module tmpak2llvmy_mondo_relaxed.owl EL++ ontology module owl:Class IAO:8000019 biolink:NamedThing ontology module subsetted by OWL profile tmpak2llvmy_mondo_relaxed.owl ontology module subsetted by OWL profile owl:Class MONDO:0012442 biolink:NamedThing autosomal recessive nonsyndromic deafness 66 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 66|deafness, autosomal recessive type 66|autosomal recessive nonsyndromic deafness type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|DFNB66|DCDC2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 66 DOID:0110517|UMLS:C1857750|OMIM:610212|MESH:C565701|ICD10:H90.3 owl:Class MONDO:0009232 biolink:NamedThing Fuhrmann syndrome Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. tmpak2llvmy_mondo_relaxed.owl Fuhrmann-Rieger-de Sousa syndrome|Fuhrmann syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies OMIM:228930|Orphanet:2854|SCTID:721296004|MESH:C538189|ICD10:Q74.8|UMLS:C1856728|DOID:0090067|GARD:0002410 https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome owl:Class MONDO:0600008 biolink:NamedThing cytokine release syndrome A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. tmpak2llvmy_mondo_relaxed.owl CRS|cytokine-associated toxicity|cytokine storm NCIT:C78251 http://orcid.org/0000-0002-5460-8025 owl:Class UBERON:0002722 biolink:NamedThing trochlear nucleus Nucleus in the midbrain at the level of the inferior colliculus near the midline, containing the motor neurons giving rise to the trochlear nerve, innervating the contralateral superior oblique extraocular muscle of the eye (Brodal, Neurological Anatomy, 3rd ed, 1981, pg. 533). tmpak2llvmy_mondo_relaxed.owl fourth cranial nerve nucleus|nIV|nucleus nervi trochlearis|trochlear motor nucleus|nucleus of trochlear nerve|motor nucleus IV|trochlear IV nucleus owl:Class MONDO:0008636 biolink:NamedThing double uterus-hemivagina-renal agenesis syndrome Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. tmpak2llvmy_mondo_relaxed.owl Double uterus and obstructed hemivagina syndrome|Herlyn-Werner syndrome|uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|obstructed hemivagina and ipsilateral renal anomaly|Wunderlich syndrome|OHVIRA syndrome MESH:C566010|OMIM:192050|SCTID:722431007|Orphanet:3411 owl:Class GO:0007162 biolink:NamedThing negative regulation of cell adhesion Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. tmpak2llvmy_mondo_relaxed.owl downregulation of cell adhesion|inhibition of cell adhesion|down-regulation of cell adhesion|down regulation of cell adhesion|cell adhesion receptor inhibitor activity owl:Class UBERON:0004294 biolink:NamedThing glomerular capillary endothelium An endothelium that is part of a glomerular capillary. tmpak2llvmy_mondo_relaxed.owl renal glomerulus capillary endothelium owl:Class MONDO:0016357 biolink:NamedThing dysplastic cortical hyperostosis tmpak2llvmy_mondo_relaxed.owl Kozlowski-Tsuruta syndrome Orphanet:2204|GARD:0002022|UMLS:CN201209|ICD10:M89.8 https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis owl:Class MONDO:0024182 biolink:NamedThing dry beriberi tmpak2llvmy_mondo_relaxed.owl endemic neuritis DOID:0070318|ICD10CM:E51.11 owl:Class MONDO:0006676 biolink:NamedThing beriberi Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. tmpak2llvmy_mondo_relaxed.owl vitamin B1 deficiency|Beri Beri|thiamine deficiency MESH:D001602|UMLS:C0005122|DOID:0070313|EFO:1000837|ICD10:E51.11|SCTID:36656008|GARD:0009948|DOID:13725|ICD10:E51.1|NCIT:C34418|ICD9:265.0|MedDRA:10004482 Editor note: check if beriberi should be made a subclass of TD https://rarediseases.info.nih.gov/diseases/9948/beriberi owl:Class MONDO:0002202 biolink:NamedThing outlet dysfunction constipation tmpak2llvmy_mondo_relaxed.owl ICD10:K59.02|DOID:2088|ICD9:564.02 owl:Class CL:0000095 biolink:NamedThing neuron associated cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0009388 biolink:NamedThing hyperlysinemia Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. tmpak2llvmy_mondo_relaxed.owl L-lysine NAD-oxido-reductase deficiency|hyperlysinemia (disease)|lysine intolerance|lysine:Alpha-ketoglutarate reductase deficiency|L-lysine:NAD-oxido-reductase deficiency|hyperlysinemia|hyperlysinemia, type 1|hyperlysinemia, type I|hyperlysinemia type I|Alpha-aminoadipic semialdehyde synthase deficiency|lysine alpha-ketoglutarate reductase deficiency hyperlysinemia (disease) HP:0002161|Orphanet:2203|SCTID:58558003|ICD10:E72.3|NCIT:C123433|OMIM:238700|UMLS:C0268553|DOID:9274|GARD:0002828|ICD9:270.7 owl:Class UBERON:0001577 biolink:NamedThing facial muscle A muscle innervated by a facial nerve. tmpak2llvmy_mondo_relaxed.owl muscle of facil expression|craniofacial muscle|face muscle organ|musculi faciei|facial nerve muscle|facial muscle proper|muscle of face|mimetic muscles|face muscle|muscle organ of face|facial muscle|cranio-facial muscle|facial nerve innervated muscle|cranial-facial muscle|muscles of facial expression owl:Class UBERON:0002173 biolink:NamedThing pulmonary alveolar duct the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli tmpak2llvmy_mondo_relaxed.owl alveolar duct|ductus alveolaris|respiratory alveolar duct owl:Class HGNC:29186 biolink:NamedThing ANKRD26 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003372 biolink:NamedThing vulvar leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl mammalian vulva leiomyosarcoma|leiomyosarcoma of mammalian vulva EFO:1001975|NCIT:C40318|DOID:5286|UMLS:C2168304 owl:Class MONDO:0002659 biolink:NamedThing uveal cancer A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. tmpak2llvmy_mondo_relaxed.owl malignant tumor of uvea|malignant neoplasm of uvea|malignant neoplasm of the uvea|malignant uveal tumor|cancer of uvea|malignant uvea tumor|malignant uveal neoplasm|malignant uvea neoplasm|uvea cancer|uveal tumor|malignant tumor of the uvea UMLS:C1334629|EFO:1001230|DOID:3479|NCIT:C6105 owl:Class MONDO:0025138 biolink:NamedThing vesicular exanthema of swine A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. tmpak2llvmy_mondo_relaxed.owl swine vesicular Exanthemas|swine vesicular exanthema MESH:D014720|UMLS:C0042584 owl:Class MONDO:0018264 biolink:NamedThing oculocutaneous albinism type 6 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. tmpak2llvmy_mondo_relaxed.owl albinism, oculocutaneous, type VI|skin/hair/eye pigmentation 4, fair/dark skin|skin/hair/eye pigmentation, variation In, 4|OCA6 UMLS:C3805375|ICD10:E70.3|DOID:0080614|OMIM:113750|Orphanet:370097|SCTID:722058005 owl:Class MONDO:0030801 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome 2 tmpak2llvmy_mondo_relaxed.owl M7MLS2|monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM:619041 owl:Class MONDO:0031178 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:252270 owl:Class GO:1902107 biolink:NamedThing positive regulation of leukocyte differentiation Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of immune cell differentiation|upregulation of leucocyte differentiation|up-regulation of leucocyte differentiation|up regulation of leukocyte differentiation|upregulation of leukocyte differentiation|up-regulation of leukocyte differentiation|up regulation of leucocyte differentiation|positive regulation of leucocyte differentiation|up-regulation of immune cell differentiation|positive regulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|activation of leukocyte differentiation|upregulation of immune cell differentiation owl:Class MONDO:0017862 biolink:NamedThing paraquat poisoning Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:T60.3|Orphanet:31827|UMLS:CN227212 owl:Class MONDO:0022333 biolink:NamedThing 5-nucleotidase syndrome tmpak2llvmy_mondo_relaxed.owl 5'-Nucleotidase syndrome|5'NT syndrome MESH:C535321|UMLS:C2930876|GARD:0008242 https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome owl:Class MONDO:0008099 biolink:NamedThing congenital stationary night blindness autosomal dominant 2 Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. tmpak2llvmy_mondo_relaxed.owl night blindness, congenital stationary, autosomal dominant 2|CSNBAD2|night blindness, congenital stationary, Rambusch type|night blindness, congenital stationary, autosomal dominant type 2|PDE6B congenital stationary night blindness|congenital stationary night blindness autosomal dominant type 2|Rambusch type congenital stationary night blindness|congenital stationary night blindness caused by mutation in PDE6B MESH:C566869|OMIM:163500|DOID:0110863|UMLS:C1876182 owl:Class MONDO:0013365 biolink:NamedThing autosomal recessive nonsyndromic deafness 83 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. tmpak2llvmy_mondo_relaxed.owl DFNB83|deafness, autosomal recessive 83|autosomal recessive deafness 83|autosomal recessive nonsyndromic deafness type 83 DOID:0110528|OMIM:613685|ICD10:H90.3 owl:Class MONDO:0001272 biolink:NamedThing functional diarrhea tmpak2llvmy_mondo_relaxed.owl UMLS:C0156173|ICD10:K59.1|SCTID:47812002|DOID:11371|ICD9:564.5 owl:Class MONDO:0012846 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 6 tmpak2llvmy_mondo_relaxed.owl Gefs+, type 6|GEFSP6|generalized epilepsy with febrile seizures plus, type 6 DOID:0111300|OMIM:612279|UMLS:C2677078|MESH:C567371 owl:Class MONDO:0018214 biolink:NamedThing generalized epilepsy with febrile seizures plus A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). tmpak2llvmy_mondo_relaxed.owl genetic epilepsy with febrile seizures plus|GEFS+|generalized epilepsy with febrile seizures plus|epilepsy, generalized, with febrile seizures plus|generalized epilepsy with febrile seizures-plus|genetic epilepsy with febrile seizures-plus DOID:0060170|Orphanet:36387|NCIT:C122811|ICD10:G40.3|UMLS:C3502809|SCTID:699688008|MESH:C565808|OMIMPS:604233 owl:Class MONDO:0021645 biolink:NamedThing esophageal varices with bleeding tmpak2llvmy_mondo_relaxed.owl ICD10:I85.0|ICD10:I85.01|SCTID:17709002|ICD9:456.0 owl:Class MONDO:0001221 biolink:NamedThing esophageal varices Abnormally dilated veins of the esophagus. tmpak2llvmy_mondo_relaxed.owl esophageal varices with bleeding in disease EC|esophageal varices in disease classified elsewhere, with bleeding|bleeding esophageal varices|esophagus varicose disease|esophageal varix|bleeding oesophageal varices|esophageal varices without mention of bleeding|esophageal varices|varicose disease of esophagus ICD9:456.20|MESH:D004932|ICD10:I85.01|GARD:0006384|ICD9:456.0|ICD9:456.2|ICD10:I85|SCTID:28670008|NCIT:C53506|DOID:112 owl:Class MONDO:0008221 biolink:NamedThing prolidase deficiency Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. tmpak2llvmy_mondo_relaxed.owl hyperimidodipeptiduria|Peptidase deficiency|prolidase deficiency|Imidodipeptidase deficiency MESH:D056732|GARD:0007473|OMIM:170100|UMLS:C0268532|DOID:0111540|ICD10:E72.8|Orphanet:742|NCIT:C85029|SCTID:410055005 owl:Class MONDO:0019232 biolink:NamedThing inborn disorder of peptide metabolism tmpak2llvmy_mondo_relaxed.owl disorder of peptide metabolism UMLS:CN227597|Orphanet:79187 owl:Class UBERON:2002098 biolink:NamedThing hemal spine series tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100195 biolink:NamedThing X-linked intellectual disability with hypopituitarism An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class GO:0098815 biolink:NamedThing modulation of excitatory postsynaptic potential Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017905 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. tmpak2llvmy_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases, X-linked|X-linked MSMD SCTID:719814009|UMLS:CN203967|Orphanet:319605|UMLS:C4304413|ICD10:D84.8 owl:Class MONDO:0019146 biolink:NamedThing inherited susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. tmpak2llvmy_mondo_relaxed.owl Mycobacterium caused genetic susceptibility to infections due to particular pathogens|Mycobacterium genetic susceptibility to infections due to particular pathogens|MSMD|idiopathic infection caused by BCG or atypical mycobacteria|Mendelian susceptibility to mycobacterial infections|Mendelian susceptibility to atypical mycobacteria Orphanet:748|ICD10:D84.8|UMLS:C3266863|GARD:0012977|UMLS:CN181681 owl:Class GO:0071901 biolink:NamedThing negative regulation of protein serine/threonine kinase activity Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000009978 biolink:NamedThing lactotransferrin tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015249 biolink:NamedThing mitral atresia disorder A congenital heart defect characterized by the complete atresia of the mitral valve. tmpak2llvmy_mondo_relaxed.owl congenital mitral valve atresia|congenital atresia of mitral valve|mitral atresia|mitral valve atresia GARD:0003685|Orphanet:1205|SCTID:23063005|ICD10:Q23.2|NCIT:C98992|HP:0011560 owl:Class GO:0043031 biolink:NamedThing negative regulation of macrophage activation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. tmpak2llvmy_mondo_relaxed.owl inhibition of macrophage activation|downregulation of macrophage activation|down regulation of macrophage activation|down-regulation of macrophage activation|negative regulation of macrophage polarization owl:Class UBERON:0008907 biolink:NamedThing dermal bone Skeletal element that forms superficially in the organism, usually in association with the ectoderm[VSAO]. tmpak2llvmy_mondo_relaxed.owl dermal bones owl:Class GO:0106120 biolink:NamedThing positive regulation of sterol biosynthetic process Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010893 biolink:NamedThing positive regulation of steroid biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003526 biolink:NamedThing respiratory system capillary A capillary that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl capillary vessel of apparatus respiratorius|respiratory system blood capillary|respiratory system capillary vessel|capillary of apparatus respiratorius|blood capillary of respiratory system|capillary of respiratory system|apparatus respiratorius blood capillary|blood capillary of apparatus respiratorius|capillary vessel of respiratory system|apparatus respiratorius capillary|apparatus respiratorius capillary vessel owl:Class GO:0061025 biolink:NamedThing membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane. tmpak2llvmy_mondo_relaxed.owl cellular membrane fusion|single-organism membrane fusion owl:Class GO:0048593 biolink:NamedThing camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpak2llvmy_mondo_relaxed.owl camera-style eye morphogenesis owl:Class GO:0048592 biolink:NamedThing eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022552 biolink:NamedThing Bazopoulou Kyrkanidou syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C537664|UMLS:C2931580 owl:Class MONDO:0007405 biolink:NamedThing Crouzon syndrome Crouzon disease is characterized by craniosynostosis and facial hypoplasia. tmpak2llvmy_mondo_relaxed.owl Crouzon disease|Crouzon's disease|Cfd1|Crouzon craniofacial dysostosis|craniofacial dysostosis type 1|Crouzon syndrome|craniofacial dysostosis, type 1|craniofacial dysostosis GARD:0006206|ICD10:Q75.1|Orphanet:207|DOID:2339|UMLS:CN200892|OMIM:123500|NCIT:C84653|MESH:D003394|SCTID:28861008 https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome owl:Class HGNC:28303 biolink:NamedThing ODAD3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014059 biolink:NamedThing regulation of dopamine secretion Any process that modulates the frequency, rate or extent of the regulated release of dopamine. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002383 biolink:NamedThing Encephalitis tmpak2llvmy_mondo_relaxed.owl Brain inflammation SNOMEDCT_US:45170000|MSH:D004660|UMLS:C0014038 human_phenotype owl:Class MONDO:0001315 biolink:NamedThing neurocirculatory asthenia A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. tmpak2llvmy_mondo_relaxed.owl cardiovascular neurosis|Krishaber's disease|Da Costa's syndrome|cardiovascular malfunction arising from mental factors MESH:D009449|SCTID:191962000|ICD9:306.2|DOID:11569 owl:Class UBERON:0003579 biolink:NamedThing shoulder connective tissue A portion of connective tissue that is part of a shoulder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of shoulder|shoulder portion of connective tissue|portion of connective tissue of shoulder|shoulder textus connectivus|textus connectivus of shoulder owl:Class UBERON:0022277 biolink:NamedThing hepatic flexure of colon Hepatic (or the right colic) flexure is the sharp bend between the ascending and the transverse colon. The right colic flexure is adjacent to the liver, and is therefore also known as the hepatic flexure. Thus, the left colic flexure is also known as the splenic flexure (as it is close to the spleen). The hepatic flexure lies in the right upper quadrant of the abdomen in humans. tmpak2llvmy_mondo_relaxed.owl right colic flexure|hepatic flexure of colon|hepatic flexure|flexura coli heaptica owl:Class UBERON:0022275 biolink:NamedThing colic flexure A sharp bend between consecutive segments of the colon. tmpak2llvmy_mondo_relaxed.owl flexura coli owl:Class GO:2000147 biolink:NamedThing positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. tmpak2llvmy_mondo_relaxed.owl positive regulation of movement of a cell|positive regulation of cell movement|positive regulation of cell locomotion owl:Class MONDO:0009884 biolink:NamedThing platelet prostacyclin receptor defect tmpak2llvmy_mondo_relaxed.owl platelet prostacyclin receptor defect|Vienna-Hietzing defect OMIM:262875|MESH:C564884|UMLS:C1849774 owl:Class MONDO:0012927 biolink:NamedThing chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. tmpak2llvmy_mondo_relaxed.owl deletion 1q41-q42|monosomy 1q41-q42|1q41-q42 microdeletion syndrome|monosomy 1q41q42|1q41-q42 deletion syndrome|1q41q42 microdeletion syndrome|chromosome 1q41-q42 deletion syndrome|Del(1)(q41q42)|holoprosencephaly 10 UMLS:C4274528|ICD10:Q93.5|Orphanet:250999|SCTID:716515000|UMLS:C2675857|GARD:0003738|DOID:0060412|OMIM:612530 https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome owl:Class UBERON:0004216 biolink:NamedThing lower arm nerve A nerve that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005420 biolink:NamedThing hypothyroidism Abnormally low levels of thyroid hormone. tmpak2llvmy_mondo_relaxed.owl thyroid insufficiency|thyroid deficiency|underactive thyroid|hypothyroid|hypothyroidism SCTID:40930008|MESH:D007037|DOID:1459|ICD9:244.9|NCIT:C26800|EFO:0004705|ICD10:E03.9 owl:Class MONDO:0018383 biolink:NamedThing osteonecrosis of genetic origin An instance of osteonecrosis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl bone necrosis of genetic origin|genetic osteonecrosis Orphanet:399380|ICD10:M93.9 owl:Class MONDO:0000390 biolink:NamedThing vitelliform macular dystrophy A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. tmpak2llvmy_mondo_relaxed.owl macular dystrophy, vitelliform|vitelliform macular dystrophy DOID:0050661|UMLS:C0339510|NCIT:C118788|SCTID:90036004|ICD10:H35.5|MESH:D057826|OMIMPS:153840 owl:Class GO:0009057 biolink:NamedThing macromolecule catabolic process The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpak2llvmy_mondo_relaxed.owl biopolymer catabolic process|macromolecule catabolism|multicellular organismal macromolecule catabolic process|macromolecule degradation|macromolecule breakdown owl:Class MONDO:0008015 biolink:NamedThing motion sickness A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. tmpak2llvmy_mondo_relaxed.owl travel sickness|motion sickness UMLS:C0026603|OMIM:158280|DOID:2951|ICD10:T75.3|EFO:0006928|MESH:D009041|ICD9:994.6 owl:Class MONDO:0024934 biolink:NamedThing fish disease Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). tmpak2llvmy_mondo_relaxed.owl diseases, fish|disease, fish|fish disease UMLS:C0016154|MESH:D005393 owl:Class UBERON:0036146 biolink:NamedThing cardiopharyngeal field An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905951 biolink:NamedThing mitochondrion DNA recombination Any DNA recombination that takes place in mitochondrion. tmpak2llvmy_mondo_relaxed.owl DNA recombination in mitochondria owl:Class GO:0006310 biolink:NamedThing DNA recombination Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001109 biolink:NamedThing caprine dairy food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001107 biolink:NamedThing bovine dairy food product tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010884 biolink:NamedThing positive regulation of lipid storage Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpak2llvmy_mondo_relaxed.owl positive regulation of lipid sequestration owl:Class GO:1905954 biolink:NamedThing positive regulation of lipid localization Any process that activates or increases the frequency, rate or extent of lipid localization. tmpak2llvmy_mondo_relaxed.owl activation of lipid localisation|up-regulation of lipid localisation|positive regulation of lipid localisation|up regulation of lipid localisation|up-regulation of lipid localization|upregulation of lipid localization|activation of lipid localization|upregulation of lipid localisation|up regulation of lipid localization owl:Class MONDO:0005364 biolink:NamedThing Graves disease Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. tmpak2llvmy_mondo_relaxed.owl Basedow disease|Basedow's disease|grave's disease|exophthalmic goiter|parry disease|Graves disease|Graves' hyperthyroidism|Graves' disease NCIT:C3071|DOID:12361|GARD:0006549|EFO:0004237|ICD9:242.0|SCTID:353295004|ICD10:E05.0|MESH:D006111 https://rarediseases.info.nih.gov/diseases/6549/graves-disease owl:Class MONDO:0002142 biolink:NamedThing undifferentiated pleomorphic sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. tmpak2llvmy_mondo_relaxed.owl malignant fibrohistiocytic tumors|MFH|malignant fibrous cytoma|Storiform-pleomorphic malignant fibrous histiocytoma|adult undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibroxanthoma|malignant fibrous histiocytoma of soft tissue and bone|fibrous histiocytoma, malignant|malignant fibrous histiocytoma|unclassified pleomorphic sarcoma|undifferentiated pleomorphic soft tissue sarcoma|fibroxanthosarcoma (morphologic abnormality)|Storiform-pleomorphic MFH|adult unclassified pleomorphic sarcoma|Storiform-pleomorphic fibrous histiocytoma|malignant fibrous histiocytoma of the soft tissue and bone|fibrous histiocytoma, malignant (morphologic abnormality)|undifferentiated pleomorphic sarcoma|adult malignant fibrous histiocytoma|fibroxanthosarcoma|UPS|histiocytoma, fibrous, malignant|Unclassified Pleomorphic sarcoma (formerly "MFH")|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma") Orphanet:2023|SCTID:443439001|ICDO:8830/3|ICD10:C49.9|GARD:0006963|NCIT:C114541|EFO:1001972|MESH:D051677|HGNC:16982|MedDRA:10025552|ICD9:171.9|ONCOTREE:MFH|DOID:1907|NCIT:C4247 MONDO:0016069 https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma owl:Class MONDO:0014672 biolink:NamedThing osteogenesis imperfecta type 17 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene. tmpak2llvmy_mondo_relaxed.owl OI17|osteogenesis imperfecta type XVII|osteogenesis imperfecta, type XVII|osteogenesis imperfecta, type 17|SPARC osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in SPARC OMIM:616507|UMLS:C4225301|ICD10:Q78.0|DOID:0110338 owl:Class MONDO:0019719 biolink:NamedThing congenital anomaly of kidney and urinary tract A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. tmpak2llvmy_mondo_relaxed.owl congenital anomaly of kidney and urinary tract|congenital anomalies of the kidney and urinary tract|renal or urinary tract malformation|congenital anomalies of kidney and urinary tract|CAKUT DOID:0080205|Orphanet:93545|MESH:C566906|UMLS:C1968949|OMIMPS:610805 owl:Class MONDO:0016727 biolink:NamedThing extraventricular neurocytoma Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. tmpak2llvmy_mondo_relaxed.owl EVN|extraventricular neurocytoma (WHO grade II) NCIT:C92555|Orphanet:251927|SCTID:716787002|UMLS:C2985175|UMLS:CN201975|ONCOTREE:EVN|ICDO:9506/1 owl:Class MONDO:0012386 biolink:NamedThing trichoscyphodysplasia tmpak2llvmy_mondo_relaxed.owl metaphyseal chondrodysplasia with ectodermal dysplasia|Trichoscyphodysplasia|cupped metaphyses and cone-Shaped epiphyses with alopecia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia OMIM:609990|MESH:C536557|GARD:0009861|UMLS:C1864943 https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia owl:Class MONDO:0007154 biolink:NamedThing arteriovenous malformations of the brain Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. tmpak2llvmy_mondo_relaxed.owl intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|cerebral arteriovenous malformation|intracranial arteriovenous malformation|Bavm|cerebral arteriovenous malformations|arteriovenous malformations of the brain|intracranial AVM Orphanet:46724|GARD:0003020|NCIT:C2936|ICD10:Q28.2|MESH:D002538|SCTID:234142008|OMIM:108010|UMLS:C0007772|DOID:0060688 owl:Class MONDO:0044205 biolink:NamedThing Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400). tmpak2llvmy_mondo_relaxed.owl Shwachman-Diamond syndrome 2|SDS2 UMLS:CN244554|OMIM:617941 owl:Class MONDO:0700064 biolink:NamedThing aneuploidy A chromosomal abnormality in which there is an addition or loss of chromosomes within a set. tmpak2llvmy_mondo_relaxed.owl chromosome number anomaly NCIT:C2873 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0000758 biolink:NamedThing bacillary angiomatosis A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. tmpak2llvmy_mondo_relaxed.owl bacillary epithelioid Angiomatoses|epithelioid angiomatosis|Bartonella angiomatosis|angiomatoses, epithelioid|angiomatoses, bacillary epithelioid|bacillary angiomatosis|angiomatosis, epithelioid|epithelioid Angiomatoses|epithelioid Angiomatoses, bacillary|bacillary Angiomatoses|bacillary epithelioid angiomatosis|Bartonella caused angiomatosis|angiomatoses, bacillary|angiomatosis, bacillary epithelioid|epithelioid angiomatosis, bacillary UMLS:C0085434|SCTID:58213005|MESH:D016917|DOID:0060345|ICD9:083.8|NCIT:C3477 owl:Class HP:0011843 biolink:NamedThing Abnormality of musculoskeletal physiology An abnormality of the function of the skeletal system. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023164 peter 2012-05-07T08:09:43Z human_phenotype owl:Class UBERON:0001518 biolink:NamedThing skin of wrist A zone of skin that is part of a wrist [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl zone of skin of carpal region|zone of skin of wrist|wrist skin|carpal region zone of skin|wrist zone of skin owl:Class UBERON:0001519 biolink:NamedThing skin of manus A zone of skin that is part of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl manus skin|skin of hand|hand skin|skin of fore-paw owl:Class MONDO:0002805 biolink:NamedThing hidradenoma A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma. tmpak2llvmy_mondo_relaxed.owl hidradenoma|eccrine acrospiroma|syringoadenoma|acrospiroma|sweat gland adenoma|hidradenoma of skin NCIT:C7563|DOID:3896 owl:Class MONDO:0018653 biolink:NamedThing Polymerase proofreading-related adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl PPAP|Polymerase proofreading-related adenomatous polyposis Orphanet:447877|ICD10:D12.6|NCIT:C162484 owl:Class MONDO:0008430 biolink:NamedThing skeletal dysplasia with delayed epiphyseal and carpal bone ossification tmpak2llvmy_mondo_relaxed.owl skeletal dysplasia with delayed epiphyseal and carpal bone ossification UMLS:C1866939|OMIM:182255|MESH:C566687 owl:Class MONDO:0003654 biolink:NamedThing childhood parosteal osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. tmpak2llvmy_mondo_relaxed.owl childhood parosteal osteosarcoma|childhood parosteal osteogenic sarcoma UMLS:C1332994|DOID:5809|NCIT:C6589 owl:Class HP:0001114 biolink:NamedThing Xanthelasma The presence of xanthomata in the skin of the eyelid. tmpak2llvmy_mondo_relaxed.owl Xanthoma of eyelid|Fatty deposits on eyelids|Xanthelasma of eyelid|Xanthelasma palpebrarum|Xanthelasma of periocular region|Xanthoma|Xanthoma of periocular region|Fatty deposits in skin around the eyes UMLS:C0302314|UMLS:C4280601|MSH:D014973|UMLS:C0155210|SNOMEDCT_US:6400008|SNOMEDCT_US:75594004|UMLS:C4280602|SNOMEDCT_US:63103006 human_phenotype owl:Class HP:0000991 biolink:NamedThing Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. tmpak2llvmy_mondo_relaxed.owl Yellow bumps of fatty deposits on skin|Xanthomata UMLS:C0043325|SNOMEDCT_US:63103006|MSH:D014973 human_phenotype owl:Class MONDO:0007648 biolink:NamedThing hereditary diffuse gastric adenocarcinoma An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. tmpak2llvmy_mondo_relaxed.owl familial diffuse cancer of stomach|HDGC|hereditary diffuse gastric cancer|hereditary diffuse cancer of stomach|FDGC|gastric cancer, familial diffuse|gastric cancer, hereditary diffuse|hereditary diffuse gastric adenocarcinoma|signet cell adenocarcinoma|signet ring gastric carcinoma|breast cancer, lobular|signet ring cell gastric carcinoma|diffuse gastric cancer|familial diffuse gastric cancer|gastric cancer, familial diffuse, and cleft lip with or without cleft palate SCTID:716859000|ICD10:C16.9|UMLS:C1708349|DOID:0080763|GARD:0010900|OMIM:137215|Orphanet:26106|NCIT:C43295|GARD:0010334 Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer owl:Class GO:0032107 biolink:NamedThing regulation of response to nutrient levels Any process that modulates the frequency, rate or extent of a response to nutrient levels. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013512 biolink:NamedThing hemoglobin H disease Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl Alpha-thalassemia, Hemoglobin H type|HbH|HbH disease|Hemoglobin H disease, Deletional|alpha thalassemia, hemoglobin H type|hemoglobin H disease|HEMOGLOBIN H disease|Hemoglobin H disease, Nondeletional|alpha-thalassemia intermedia|Alpha-thalassemia intermedia|hemoglobin H disease, deletional ICD9:282.49|MedDRA:10063435|ICD10:D56.0|DOID:0110031|SCTID:48553001|OMIM:613978|UMLS:C3161174|Orphanet:93616|NCIT:C95504 owl:Class HP:0000622 biolink:NamedThing Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. tmpak2llvmy_mondo_relaxed.owl Blurred vision SNOMEDCT_US:111516008|SNOMEDCT_US:246636008|UMLS:C0344232 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. HP:0007723 human_phenotype owl:Class HGNC:19194 biolink:NamedThing HMCN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013447 biolink:NamedThing retinitis pigmentosa 48 Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene. tmpak2llvmy_mondo_relaxed.owl GUCA1B retinitis pigmentosa|retinitis pigmentosa 48|retinitis pigmentosa type 48|retinitis pigmentosa caused by mutation in GUCA1B|RP48 UMLS:C3151190|DOID:0110382|OMIM:613827|ICD10:H35.5 owl:Class UBERON:0004053 biolink:NamedThing external male genitalia The external masculine genital organs, including the penis and scrotum tmpak2llvmy_mondo_relaxed.owl organa genitalia masculina externa|external male genital organ|male external genitalia owl:Class HGNC:5401 biolink:NamedThing SP110 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0106122 biolink:NamedThing negative regulation of cobalamin metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016584 biolink:NamedThing mandibuloacral dysplasia Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. tmpak2llvmy_mondo_relaxed.owl MAD|mandibuloacral dysplasia with lipodystrophy Orphanet:2457|OMIMPS:248370|GARD:0011893|UMLS:CN118835|ICD10:Q87.5 owl:Class GO:0004860 biolink:NamedThing protein kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019210 biolink:NamedThing kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a kinase. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018645 biolink:NamedThing IgG4-related sclerosing cholangitis tmpak2llvmy_mondo_relaxed.owl ICD10:K83.0|Orphanet:447764|UMLS:C4302109|SCTID:722870008 owl:Class MONDO:0021320 biolink:NamedThing malignant tumor of floor of mouth A cancer that involves the mouth floor. tmpak2llvmy_mondo_relaxed.owl malignant floor of mouth tumor|cancer of mouth floor|malignant floor of mouth neoplasm|malignant floor of the mouth tumor|malignant neoplasm of mouth floor|malignant floor of the mouth neoplasm|malignant tumor of the floor of the mouth|mouth floor cancer|malignant mouth floor neoplasm|malignant neoplasm of the floor of the mouth|malignant neoplasm of floor of mouth ICD9:144.8|SCTID:363385007|NCIT:C9318|ICD9:144.9 owl:Class MONDO:0022777 biolink:NamedThing cleft lip palate dysmorphism kumar type tmpak2llvmy_mondo_relaxed.owl GARD:0001375 https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type owl:Class PCO:0000001 biolink:NamedThing population of organisms A collection of organisms, all of the same species, that live in the same place. tmpak2llvmy_mondo_relaxed.owl owl:Class PCO:0000018 biolink:NamedThing single-species collection of organisms A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023155 biolink:NamedThing fibula aplasia complex brachydactyly tmpak2llvmy_mondo_relaxed.owl GARD:0002329 https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly owl:Class HGNC:12930 biolink:NamedThing ZBTB16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005655 biolink:NamedThing ascaridiasis Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. tmpak2llvmy_mondo_relaxed.owl infection caused by Ascaridia|Ascaridia caused disease or disorder|infection by Ascaridia|ascaridiosis|Ascaridia disease or disorder|Ascaridia infectious disease UMLS:C0003952|SCTID:76160002|DOID:3108|EFO:0007155|MESH:D001198|ICD10:B77 owl:Class SO:0005855 biolink:NamedThing gene_group A collection of related genes. tmpak2llvmy_mondo_relaxed.owl gene group owl:Class MONDO:0016266 biolink:NamedThing squamous cell carcinoma of the corpus uteri A squamous cell carcinoma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl endometrial squamous cell carcinoma|body of uterus squamous cell carcinoma Orphanet:213716|ICD10:C50 owl:Class UBERON:0004645 biolink:NamedThing urinary bladder urothelium The epithelial lining of the luminal space of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl epithelium of bladder|transitional epithelium|urothelium of urinary bladder|urothelium|urinary bladder transitional epithelium|transitional epithelium of urinary bladder|bladder transitional cell epithelium owl:Class MONDO:0004188 biolink:NamedThing iris spindle cell melanoma A spindle cell melanoma that involves the iris. tmpak2llvmy_mondo_relaxed.owl spindle cell melanoma of the iris|spindle cell melanoma of iris|iris spindle cell melanoma DOID:7328|NCIT:C6098|UMLS:C1334287 owl:Class MONDO:0009174 biolink:NamedThing protein-losing enteropathy Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. tmpak2llvmy_mondo_relaxed.owl enteropathy, PROTEIN-losing|exudative enteropathy|protein-losing enteropathy (disease)|protein-losing enteropathy|enteropathy, exudative|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy|CHAPLE protein-losing enteropathy (disease) ICD9:579.8|Orphanet:566175|UMLS:C0033680|OMIM:226300|HP:0002243|DOID:10611|SCTID:22542007|MESH:D011504 owl:Class MONDO:0005535 biolink:NamedThing oral Crohn disease Crohn's disease affecting the mouth. tmpak2llvmy_mondo_relaxed.owl oral Crohn's disease SCTID:196578009|UMLS:C0399497|EFO:0005625 owl:Class MONDO:0016102 biolink:NamedThing subacute inflammatory demyelinating polyneuropathy A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). tmpak2llvmy_mondo_relaxed.owl SIDP|subacute inflammatory demyelinating polyradiculoneuropathy Orphanet:206594|SCTID:277189006|ICD10:G61.8|UMLS:C0456517 owl:Class MONDO:0016137 biolink:NamedThing acute and subacute inflammatory demyelinating polyneuropathy tmpak2llvmy_mondo_relaxed.owl acute and subacute inflammatory demyelinating polyradiculoneuropathy 2022-03-01 Orphanet:207038 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired peripheral neuropathy' MONDO_0015923 owl:Class MONDO:0021271 biolink:NamedThing villous adenoma of colon A villous adenoma that involves the colon. tmpak2llvmy_mondo_relaxed.owl colonic villous adenoma|villous adenoma of the colon|colon villous adenoma SCTID:309084001|NCIT:C3495|UMLS:C0149862 owl:Class GO:0120033 biolink:NamedThing negative regulation of plasma membrane bounded cell projection assembly Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021388 biolink:NamedThing neoplasm of chest wall A neoplasm (disease) that involves the chest wall. tmpak2llvmy_mondo_relaxed.owl neoplasm of chest wall|tumor of the chest wall|tumor of chest wall|chest wall neoplasm|chest wall neoplasm (disease)|chest wall tumor|neoplasm of the chest wall NCIT:C4929|ICD9:239.89|SCTID:126640008|UMLS:C1290309 owl:Class MONDO:0007718 biolink:NamedThing hepatic adenomas, familial tmpak2llvmy_mondo_relaxed.owl hepatic adenomas, familial|liver cell adenomas, familial UMLS:C1840646|OMIM:142330|MESH:C564190|DOID:0111366 owl:Class UBERON:0011135 biolink:NamedThing intervertebral cartilage A cartilage element that lies between two successive vertebral centra. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011658 biolink:NamedThing autosomal recessive early-onset Parkinson disease 7 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive early-onset Parkinson's disease 7|PARK7 Parkinson disease|Parkinson disease caused by mutation in PARK7|autosomal recessive early-onset Parkinson disease type 7|Parkinson disease 7, autosomal recessive early-onset|autosomal recessive early-onset Parkinson disease 7|PARK7 UMLS:C1853445|MESH:C565238|DOID:0060370|OMIM:606324 owl:Class CHEBI:176841 biolink:NamedThing vitamin B7 Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B7 deficiency. Vitamin B7 deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B7 deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms. tmpak2llvmy_mondo_relaxed.owl vitamin B7 vitamer|vitamin B7|vitamin B-7|vitamins B7|vitamin B7 vitamers owl:Class MONDO:0001158 biolink:NamedThing obsessive-compulsive personality disorder A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. tmpak2llvmy_mondo_relaxed.owl anankastic personality disorder|OCD|obsessional personality|OCPD DOID:10932|MESH:D003193|NCIT:C92638|ICD10:F60.5|SCTID:1376001|ICD9:301.4 owl:Class HP:0030669 biolink:NamedThing Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpak2llvmy_mondo_relaxed.owl UMLS:C4073120 human_phenotype owl:Class HP:0032039 biolink:NamedThing Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpak2llvmy_mondo_relaxed.owl 2018-09-03 00:17:49+00:00 peter human_phenotype owl:Class MONDO:0030087 biolink:NamedThing diabetes mellitus, permanent neonatal 2 tmpak2llvmy_mondo_relaxed.owl Developmental Delay, Epilepsy, and Neonatal Diabetes 1|DIABETES MELLITUS, PERMANENT NEONATAL 2|PNDM2|diabetes mellitus, permanent neonatal 2 OMIM:618856 owl:Class MONDO:0006696 biolink:NamedThing cervix erosion Loss or destruction of the epithelial lining of the uterine cervix. tmpak2llvmy_mondo_relaxed.owl erosion of cervix UMLS:C0007869|DOID:3456|EFO:1000862|MESH:D002579|SCTID:61253004|MedDRA:10015128 owl:Class OGMS:0000087 biolink:NamedThing extended organism An object aggregate consisting of an organism and all material entities located within the organism, overlapping the organism, or occupying sites formed in part by the organism. tmpak2llvmy_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000087 creation date: 2010-01-25T04:51:11Z http://code.google.com/p/ogms/issues/detail?id=3 Albert Goldfain owl:Class CHEBI:25216 biolink:NamedThing metalloporphyrin tmpak2llvmy_mondo_relaxed.owl metaloporphyrins|metalloporphyrins owl:Class CHEBI:33909 biolink:NamedThing metallotetrapyrrole tmpak2llvmy_mondo_relaxed.owl metallotetrapyrroles|metal-tetrapyrrole|metal-tetrapyrrole complex owl:Class HGNC:11048 biolink:NamedThing SLC6A2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7713 biolink:NamedThing NDUFS6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008976 biolink:NamedThing chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome tmpak2llvmy_mondo_relaxed.owl chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome OMIM:215250|UMLS:C1859104|MESH:C565852 owl:Class UBERON:0011960 biolink:NamedThing articular capsule of glenohumeral joint An articular capsule that is part of the glenohumeral joint. tmpak2llvmy_mondo_relaxed.owl glenohumeral joint capsule|articular capsule of humerus|articular capsule of shoulder joint|capsule of shoulder joint|fibrous capsule of glenohumeral joint owl:Class MONDO:0010506 biolink:NamedThing intellectual disability, X-linked 61 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene. tmpak2llvmy_mondo_relaxed.owl RLIM non-syndromic X-linked intellectual disability|mental retardation, X-linked 61|MRX61|non-syndromic X-linked intellectual disability caused by mutation in RLIM|intellectual disability, X-linked 61|mental retardation, X-linked type 61|intellectual disability, X-linked type 61 UMLS:C4283894|OMIM:300978 owl:Class GO:0002637 biolink:NamedThing regulation of immunoglobulin production Any process that modulates the frequency, rate, or extent of immunoglobulin production. tmpak2llvmy_mondo_relaxed.owl regulation of antibody production|regulation of immunoglobulin biosynthetic process|regulation of immunoglobulin secretion owl:Class HGNC:16915 biolink:NamedThing HAX1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002624 biolink:NamedThing Abnormal venous morphology An anomaly of vein. tmpak2llvmy_mondo_relaxed.owl Venous abnormality|Abnormal vein UMLS:C0241665 human_phenotype owl:Class MONDO:0009485 biolink:NamedThing oculocerebrofacial syndrome, Kaufman type tmpak2llvmy_mondo_relaxed.owl Kaufman oculocerebrofacial syndrome|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|blepharophimosis-ptosis-intellectual disability syndrome|kos|KOS|BPIDS|oculocerebrofacial syndrome, Kaufman type|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet GARD:0003084|MESH:C537013|OMIM:244450|SCTID:722056009|Orphanet:2707|UMLS:C1855663|DOID:0111456|ICD10:Q87.0 owl:Class MONDO:0002687 biolink:NamedThing superior mesenteric artery syndrome Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. tmpak2llvmy_mondo_relaxed.owl Cast syndrome|Wilkie syndrome|syndromic disease of superior mesenteric artery|Arteriomesenteric duodenal compression syndrome|superior mesenteric artery syndrome|vascular compression of the duodenum|superior mesenteric artery syndromic disease GARD:0007712|SCTID:197006009|MESH:D013478|UMLS:C0038828|EFO:1001201|NCIT:C85175|DOID:3557 https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome owl:Class GO:0010565 biolink:NamedThing regulation of cellular ketone metabolic process Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018957 biolink:NamedThing pudendal neuralgia Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction. tmpak2llvmy_mondo_relaxed.owl Alcock syndrome|pudendal nerve entrapment syndrome|Pudendalgia|pudendal nerve neuralgia|pudendal neuralgia by pudendal nerve entrapment|neuralgia of pudendal nerve|pudendal algia UMLS:C3178970|GARD:0010713|ICD10:M79.2|MESH:D060545|SCTID:427972000|ICD9:729.2|UMLS:CN226268|UMLS:C1997249|Orphanet:60039 https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia owl:Class MONDO:0021667 biolink:NamedThing neuralgia A pain disorder characterize by pain in the distribution of a nerve or nerves tmpak2llvmy_mondo_relaxed.owl paroxysmal nerve pain|pain, nerve|neuralgia|paroxysmal nerve pains|pain, neuropathic MESH:D009437|ICD9:729.2|SCTID:16269008 owl:Class MONDO:0012138 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B6 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy large-related|muscular dystrophy, congenital, large-related|MDC1D|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|muscular dystrophy, congenital, type 1D|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|MDDGB6|congenital muscular dystrophy type 1D UMLS:C1837229|ICD10:G71.2|OMIM:608840|MESH:C563844|Orphanet:98894|DOID:0110637 owl:Class UBERON:0003611 biolink:NamedThing respiratory system elastic tissue An elastic tissue that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl elastic connective tissue of apparatus respiratorius|respiratory system elastic connective tissue|apparatus respiratorius elastic connective tissue|elastic tissue of respiratory system|apparatus respiratorius textus connectivus elasticus|respiratory system textus connectivus elasticus|elastic tissue of apparatus respiratorius|elastic connective tissue of respiratory system|textus connectivus elasticus of respiratory system|textus connectivus elasticus of apparatus respiratorius|apparatus respiratorius elastic tissue owl:Class MONDO:0012844 biolink:NamedThing primary ciliary dyskinesia 8 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 8|ciliary dyskinesia, primary, 8|primary ciliary dyskinesia 8 with or without situs inversus|ciliary dyskinesia, primary, 8, with or without situs inversus|CILD8 UMLS:C2677085|DOID:0110616|MESH:C567373|OMIM:612274|ICD10:Q34.8 owl:Class UBERON:0005795 biolink:NamedThing embryonic uterus tmpak2llvmy_mondo_relaxed.owl fetal uterus owl:Class MONDO:0008501 biolink:NamedThing Sturge-Weber syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. tmpak2llvmy_mondo_relaxed.owl Sturge-Weber-Krabbe syndrome|Encephalofacial angiomatosis|Encephalotrigeminal syndrome|SWS|fourth phacomatosis|Sturge-Weber disease|STURGE-WEBER syndrome|Sturge Weber syndrome|Sturge-Weber-Krabbe angiomatosis|Sturge-Weber syndrome|meningeal capillary angiomatosis|Sturge-Weber-Dimitri syndrome|SWS type II - Facial angioma alone, no CNS involvement|leptomeningeal angiomatosis|SWS type III - isolated leptomeningeal angiomas|SWS type I - Facial and leptomeningeal angiomas|Encephalotrigeminal angiomatosis DOID:0111563|OMIM:185300|Orphanet:3205|NCIT:C3391|ICD9:759.6|SCTID:19886006|MedDRA:10042265|UMLS:CN204001|MESH:D013341|GARD:0007706|UMLS:C0038505|MedDRA:10057653|ICD10:Q85.8 https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome owl:Class MONDO:0011615 biolink:NamedThing East Texas bleeding disorder tmpak2llvmy_mondo_relaxed.owl Bdet|bleeding disorder, EAST Texas type UMLS:C1853831|OMIM:605913|ICD10:D68.2|MESH:C565275|Orphanet:391320 owl:Class MONDO:0011792 biolink:NamedThing thyroid dyshormonogenesis 6 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. tmpak2llvmy_mondo_relaxed.owl thyroid hormonogenesis, genetic defect in, 6|hypothyroidism, congenital, due to dyshormonogenesis, 6|thyroid dyshormonogenesis 6|DUOX2 familial thyroid dyshormonogenesis|TDH6|thyroid dyshormonogenesis type 6|familial thyroid dyshormonogenesis caused by mutation in DUOX2 MESH:C564608|OMIM:607200|UMLS:C1846632 owl:Class MONDO:0020702 biolink:NamedThing autosomal dominant epidermolytic ichthyosis tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007239 biolink:NamedThing epidermolytic hyperkeratosis A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. tmpak2llvmy_mondo_relaxed.owl epidermolytic ichthyosis|epidermolytic palmoplantar hyperkeratosis|bullous ichthyosiform erythroderma|bullous congenital ichthyosiform erythroderma|bullous ichthyosiform erythroderma congenita|epidermolytic hyperkeratosis, late-onset|autosomal dominant epidermolytic ichthyosis|congenital bullous ichthyosiform erythroderma|ichthyosis hystrix Brocq type|bullous congenital ichthyosiform erythroderma of Brock|bullous erythroderma Ichthyosiformis congenita of Brocq|bullous ichthyosis|BCIE|EHK|epidermolytic hyperkeratosis|EI Orphanet:312|ICD10:Q80.3|GARD:0001039|OMIM:113800|SCTID:254167000|MESH:D017488|DOID:4603|NCIT:C62569 Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? owl:Class MONDO:0020645 biolink:NamedThing autosomal dominant osteopetrosis Autosomal dominant form of osteopetrosis (disease). tmpak2llvmy_mondo_relaxed.owl OPTA|osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease) OMIMPS:607634|UMLS:C4272579 owl:Class MONDO:0021017 biolink:NamedThing synaptopathy A disease caused by dysfunction of synapses. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012828 biolink:NamedThing atrial fibrillation, familial, 7 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene. tmpak2llvmy_mondo_relaxed.owl KCNA5 familial atrial fibrillation|familial atrial fibrillation caused by mutation in KCNA5|ATFB7|atrial fibrillation, familial, type 7|atrial fibrillation, familial, 7 OMIM:612240|UMLS:C2677106|MESH:C567389 owl:Class MONDO:0018054 biolink:NamedThing familial atrial fibrillation An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. tmpak2llvmy_mondo_relaxed.owl atrial fibrillation autosomal dominant|atrial fibrillation, familial|ATFB|autosomal dominant atrial fibrillation|hereditary atrial fibrillation (disease) SCTID:715395008|UMLS:CN204347|OMIMPS:608583|DOID:0050650|Orphanet:334|ICD10:I48.9|GARD:0009740 Editor note: DO def states this as being in ATFB but this is not correct owl:Class MONDO:0003764 biolink:NamedThing pediatric leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. tmpak2llvmy_mondo_relaxed.owl childhood meningeal melanoma|childhood leptomeningeal melanoma|pediatric meningeal melanoma NCIT:C5318|DOID:6089|UMLS:C1332976 owl:Class MONDO:0013106 biolink:NamedThing basal cell carcinoma, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl BCC6|basal cell carcinoma, susceptibility to, 6 UMLS:C2751600|OMIM:613063 owl:Class MONDO:0009198 biolink:NamedThing congenital lethal erythroderma Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl congenital exfoliative erythroderma resistant to treatment|lethal congenital erythroderma|erythroderma lethal congenital|erythroderma, lethal congenital MESH:C535513|OMIM:227090|ICD10:Q82.8|Orphanet:1954|GARD:0002192|SCTID:722391005 https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital owl:Class MONDO:0015337 biolink:NamedThing isolated craniosynostosis A craniosynostosis that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic craniosynostosis Orphanet:139390|ICD10:Q75.0 owl:Class MONDO:0022759 biolink:NamedThing trisomy 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). tmpak2llvmy_mondo_relaxed.owl chromosome 22 trisomy MESH:C536799|SCTID:205655003|UMLS:C0265490|GARD:0005335 https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 owl:Class GO:1904774 biolink:NamedThing negative regulation of ubiquinone biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process. tmpak2llvmy_mondo_relaxed.owl inhibition of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q6 biosynthesis|down-regulation of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q8 biosynthetic process|inhibition of ubiquinone biosynthetic process|inhibition of ubiquinone formation|down regulation of coenzyme Q10 biosynthetic process|negative regulation of ubiquinone anabolism|negative regulation of coenzyme Q biosynthesis|inhibition of coenzyme Q9 biosynthetic process|inhibition of ubiquinone synthesis|inhibition of coenzyme Q10 biosynthesis|inhibition of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q biosynthetic process|down-regulation of coenzyme Q biosynthesis|downregulation of coenzyme Q8 biosynthetic process|negative regulation of coenzyme Q9 biosynthesis|downregulation of ubiquinone synthesis|negative regulation of coenzyme Q10 biosynthesis|down regulation of coenzyme Q8 biosynthesis|down regulation of coenzyme Q8 biosynthetic process|negative regulation of ubiquinone formation|downregulation of coenzyme Q9 biosynthesis|negative regulation of ubiquinone synthesis|down regulation of ubiquinone synthesis|downregulation of coenzyme Q10 biosynthetic process|negative regulation of ubiquinone biosynthesis|down regulation of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q6 biosynthesis|down regulation of coenzyme Q biosynthesis|downregulation of ubiquinone biosynthetic process|down regulation of coenzyme Q10 biosynthesis|inhibition of coenzyme Q biosynthetic process|negative regulation of coenzyme Q9 biosynthetic process|down-regulation of ubiquinone synthesis|down-regulation of coenzyme Q9 biosynthesis|down regulation of coenzyme Q9 biosynthesis|down regulation of coenzyme Q biosynthetic process|down regulation of coenzyme Q6 biosynthesis|down regulation of ubiquinone biosynthesis|inhibition of coenzyme Q biosynthesis|downregulation of coenzyme Q10 biosynthesis|down regulation of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q8 biosynthesis|down-regulation of ubiquinone anabolism|downregulation of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q biosynthetic process|negative regulation of coenzyme Q10 biosynthetic process|down-regulation of coenzyme Q9 biosynthetic process|downregulation of coenzyme Q6 biosynthesis|down-regulation of coenzyme Q8 biosynthetic process|inhibition of coenzyme Q10 biosynthetic process|downregulation of ubiquinone biosynthesis|down regulation of ubiquinone biosynthetic process|inhibition of ubiquinone biosynthesis|down regulation of ubiquinone formation|inhibition of coenzyme Q8 biosynthesis|down-regulation of ubiquinone biosynthesis|down-regulation of ubiquinone formation|inhibition of ubiquinone anabolism|downregulation of ubiquinone formation|downregulation of coenzyme Q9 biosynthetic process|inhibition of coenzyme Q6 biosynthesis|downregulation of coenzyme Q biosynthesis|down regulation of ubiquinone anabolism|down-regulation of ubiquinone biosynthetic process|downregulation of ubiquinone anabolism|negative regulation of coenzyme Q8 biosynthesis|down-regulation of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q8 biosynthesis|down-regulation of coenzyme Q10 biosynthesis|downregulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q9 biosynthesis owl:Class GO:0010795 biolink:NamedThing regulation of ubiquinone biosynthetic process Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100305 biolink:NamedThing bile acid CoA:amino acid N-acyltransferase deficiency Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene. tmpak2llvmy_mondo_relaxed.owl BAAT deficiency|bile acid CoA:amino acid N-acyltransferase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0021394 biolink:NamedThing polyp of vagina A polyp that involves the vagina. tmpak2llvmy_mondo_relaxed.owl vaginal polyp|polyp, vaginal, benign|polyp of the vagina|vagina polyp SCTID:29609001|ICD10:N84.2|UMLS:C0156390|NCIT:C3664|ICD9:623.7 owl:Class MONDO:0008226 biolink:NamedThing periodontitis, aggressive 1 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. tmpak2llvmy_mondo_relaxed.owl periodontitis, aggressive, 1|juvenile periodontitis|periodontitis, prepubertal|periodontitis, juvenile|periodontitis, aggressive, type 1 ICD9:523.5|ICD10:K05.2|DOID:1474|MESH:D010520|OMIM:170650|EFO:0006342|UMLS:C0031106 owl:Class MONDO:0018027 biolink:NamedThing duplication/inversion 15q11 Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Duplication/inversion type 15q11|tetrasomy 15q|Invdup(15)|Isodicentric 15 chromosome|non-telomeric tetrasomy 15q|Inv dup(15)|duplication/inversion 15q11|idic(15)|non-distal tetrasomy 15q|inverted duplication 15|Isodicentric chromosome 15 syndrome|chromosome 15q tetrasomy ICD10:Q99.8|Orphanet:3306|GARD:0005153|SCTID:723332005|MESH:C580205 https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome owl:Class MONDO:0007699 biolink:NamedThing Hashimoto thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. tmpak2llvmy_mondo_relaxed.owl thyroiditis, Hashimoto|Hashimoto struma|thyroid autoantibodies|hypothyroidism, autoimmune thyroid autoantibodies, included|thyroiditides, Hashimoto|lymphocytic thyroiditis, chronic|Hashimoto disease|Hashimotos syndrome|Hashimoto thyroiditides|Hashimoto thyroiditis|hypothyroidism, autoimmune|chronic lymphocytic thyroiditis|disease, Hashimoto's|Hashimoto's thyroiditis|Hashimoto's syndrome|disease, Hashimoto|Ht|thyroiditis, chronic lymphocytic|chronic lymphocytic thyroiditides|Hashimoto syndrome|syndrome, Hashimoto's|syndromes, Hashimoto's|autoimmune thyroiditis|thyroiditides, chronic lymphocytic|Hashimoto's syndromes|Hashimoto's disease|Hashimoto's struma|lymphocytic thyroiditis|lymphocytic thyroiditides, chronic|Hashimotos disease|HT EFO:0003779|UMLS:C0677607|MESH:D050031|Wikipedia:Hashimoto's_thyroiditis|DOID:7188|ICD9:245.2|NCIT:C27191|OMIM:140300|ICD10:E06.3 owl:Class HGNC:21365 biolink:NamedThing LYRM4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012416 biolink:NamedThing respiratory system arterial smooth muscle tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004297 biolink:NamedThing respiratory system blood vessel smooth muscle A blood vessel smooth muscle that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of blood vessel of respiratory system owl:Class MONDO:0009185 biolink:NamedThing amelocerebrohypohidrotic syndrome Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. tmpak2llvmy_mondo_relaxed.owl Kohlschutter-Tonz syndrome|Kohlschutter syndrome|KOHLSCHUTTER-Tonz syndrome|epilepsy-dementia-amelogenesis imperfecta syndrome|epilepsy and Yellow teeth|amelocerebrohypohidrotic syndrome|KTZS|epilepsy, dementia, and amelogenesis imperfecta|Kohlschutter Tonz syndrome|epilepsy dementia amelogenesis imperfecta GARD:0003128|SCTID:109478007|MESH:C537213|UMLS:C0406740|DOID:0111668|OMIM:226750|ICD10:G40.8|Orphanet:1946 owl:Class CHEBI:36359 biolink:NamedThing phosphorus oxoacid derivative tmpak2llvmy_mondo_relaxed.owl phosphorus oxoacid derivative owl:Class MONDO:0014259 biolink:NamedThing neuronopathy, distal hereditary motor, type 2D Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene. tmpak2llvmy_mondo_relaxed.owl HMN 2D|neuronopathy, distal hereditary motor, type IID|neuropathy, distal hereditary motor, type 2D|FBXO38 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor caused by mutation in FBXO38|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN2D OMIM:615575|DOID:0111210 owl:Class MONDO:0000075 biolink:NamedThing neuronopathy, distal hereditary motor tmpak2llvmy_mondo_relaxed.owl See genetic heterogeneity of OMIM 182960. owl:Class NCBITaxon:6236 biolink:NamedThing Rhabditida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:33251 ncbi_taxonomy owl:Class NCBITaxon:119089 biolink:NamedThing Chromadorea tmpak2llvmy_mondo_relaxed.owl Adenophorea GC_ID:1 NCBITaxon:27837 ncbi_taxonomy owl:Class MONDO:0008233 biolink:NamedThing pheochromocytoma tmpak2llvmy_mondo_relaxed.owl pheochromocytoma|pheochromocytoma, susceptibility to|phaeochromocytoma OMIM:171300|ONCOTREE:PHC|DOID:0050771 owl:Class GO:0016525 biolink:NamedThing negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. tmpak2llvmy_mondo_relaxed.owl inhibition of angiogenesis|downregulation of angiogenesis|down regulation of angiogenesis|down-regulation of angiogenesis owl:Class GO:0045604 biolink:NamedThing regulation of epidermal cell differentiation Any process that modulates the frequency, rate or extent of epidermal cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of hypodermal cell differentiation owl:Class GO:0071745 biolink:NamedThing IgA immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpak2llvmy_mondo_relaxed.owl IgA1 antibody|IgA2 antibody owl:Class MONDO:0016140 biolink:NamedThing sarcoglycanopathy Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of sarcoglycan MESH:D058088|Orphanet:207052 owl:Class MONDO:0001437 biolink:NamedThing pulmonary alveolar proteinosis A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever. tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar proteinosis|PAP SCTID:10501004|Reactome:R-HSA-5683826|UMLS:C0034050|ICD9:516.0|DOID:12120|ICD10:J84.01|NCIT:C85037|MESH:D011649 owl:Class HGNC:33020 biolink:NamedThing SNORD115-1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004636 biolink:NamedThing lip carcinoma in situ A in situ carcinoma that involves the lip. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of lip|stage 0 carcinoma of the Lip|stage 0 carcinoma of Lip|stage 0 cancer of the Lip|stage 0 Lip cancer aJCC v7|stage 0 cancer of Lip|stage 0 Lip cancer|stage 0 lip carcinoma|stage 0 Lip cancer aJCC v6|lip in situ carcinoma|stage 0 Lip cancer aJCC v6 and v7|carcinoma in situ of the Lip UMLS:C4316815|UMLS:C0347082|DOID:8661|ICD9:230.0|ICD10:D00.0|SCTID:92643000|NCIT:C4588 owl:Class MONDO:0000371 biolink:NamedThing oral cavity carcinoma in situ A in situ carcinoma that involves the oral cavity. tmpak2llvmy_mondo_relaxed.owl stage 0 carcinoma of oral cavity|stage 0 oral cavity cancer aJCC v7|stage 0 carcinoma of mouth|stage 0 carcinoma of the oral cavity|mouth carcinoma in situ|carcinoma in situ of the oral cavity|carcinoma in situ of oral cavity|stage 0 oral cavity cancer aJCC v6|carcinoma in situ of the mouth|stage 0 carcinoma of the mouth|carcinoma in situ of mouth|oral cavity in situ carcinoma|stage 0 oral cavity cancer|stage 0 oral cavity carcinoma|stage 0 oral cavity cancer aJCC v6 and v7|stage 0 mouth carcinoma NCIT:C4587|SCTID:92660005|DOID:0050610|UMLS:C0347073 MONDO:0021286 owl:Class MONDO:8000000 biolink:NamedThing infectious discitis An infection of the intervertebral disc space. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:35082 biolink:NamedThing Cryptosporidiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000924 biolink:NamedThing compensatory emphysema tmpak2llvmy_mondo_relaxed.owl UMLS:C0155918|DOID:10031|ICD9:518.2|ICD10:J98.3|SCTID:33325001 owl:Class ENVO:01000343 biolink:NamedThing altitudinal condition An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000203 biolink:NamedThing environmental condition An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002998 biolink:NamedThing skull base meningioma A meningioma that arises from the skull base. tmpak2llvmy_mondo_relaxed.owl meningioma (disease) of basicranium|skull base meningioma|meningioma of skull base|meningioma of the skull base|basicranium meningioma (disease) NCIT:C5272|DOID:4437|UMLS:C1335976 owl:Class MONDO:0007213 biolink:NamedThing Ballard syndrome Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. tmpak2llvmy_mondo_relaxed.owl brachydactyly types B and E combined|Ballard type brachydactyly|Pitt-Williams brachydactyly|brachydactyly combined B and E types|brachydactyly Ballard type|brachydactyly, Ballard type|brachydactyly, combined B and E types|Pitt Williams brachydactyly GARD:0000959|SCTID:722298001|ICD10:Q73.8|MESH:C537094|Orphanet:93395|UMLS:C1862163|OMIM:112440|DOID:0110963 owl:Class NCBITaxon:418107 biolink:NamedThing Plasmodium (Laverania) tmpak2llvmy_mondo_relaxed.owl Laverania GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5820 biolink:NamedThing Plasmodium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033672 biolink:NamedThing Duane anomaly-myopathy-scoliosis syndrome Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. tmpak2llvmy_mondo_relaxed.owl Orphanet:50817 owl:Class GO:1900425 biolink:NamedThing negative regulation of defense response to bacterium Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. tmpak2llvmy_mondo_relaxed.owl inhibition of response to pathogenic bacteria (incompatible interaction)|down-regulation of defense response to bacteria|inhibition of defense response to bacterium|inhibition of response to pathogenic bacterium (incompatible interaction)|downregulation of antibacterial peptide activity|negative regulation of defence response to bacteria|down-regulation of defence response to bacterium|down-regulation of defence response to bacteria|down regulation of defense response to bacteria|down regulation of defense response to bacterium|downregulation of defence response to bacteria|downregulation of defense response to bacterium|downregulation of defense response to bacteria|inhibition of defence response to pathogenic bacteria, incompatible interaction|downregulation of defence response to bacterium|inhibition of antibacterial peptide activity|down regulation of antibacterial peptide activity|inhibition of defense response to bacterium, incompatible interaction|down-regulation of antibacterial peptide activity|inhibition of resistance response to pathogenic bacteria|inhibition of defence response to bacteria|negative regulation of antibacterial peptide activity|down regulation of defence response to bacterium|down-regulation of defense response to bacterium|inhibition of resistance response to pathogenic bacterium|negative regulation of defense response to bacterium, incompatible interaction|inhibition of defence response to bacterium|down regulation of defence response to bacteria|inhibition of defense response to bacteria|negative regulation of defense response to bacteria|inhibition of defence response to pathogenic bacterium, incompatible interaction|negative regulation of defence response to bacterium owl:Class NCBITaxon:1769 biolink:NamedThing Mycobacterium leprae tmpak2llvmy_mondo_relaxed.owl Bacillus leprae GC_ID:11 ncbi_taxonomy owl:Class NCIT:C36849 biolink:NamedThing Neoplastic Epithelial Spindle Cell tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015251 biolink:NamedThing modified sebaceous gland tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010003 biolink:NamedThing Rowley-Rosenberg syndrome tmpak2llvmy_mondo_relaxed.owl Growth retardation, pulmonary hypertension, and amino aciduria|Rowley-Rosenberg syndrome|Growth retardation, pulmonary hypertension, and aminoaciduria UMLS:C0268426|GARD:0008556|MESH:C535874|SCTID:53783003|OMIM:268500 https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome owl:Class HGNC:4171 biolink:NamedThing GATA2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33693 biolink:NamedThing oxygen hydride tmpak2llvmy_mondo_relaxed.owl hydrides of oxygen|oxygen hydride|oxygen hydrides owl:Class MONDO:0013578 biolink:NamedThing DYRK1A-related intellectual disability syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 7|autosomal dominant intellectual disability 7|mental retardation, autosomal dominant 7|mental retardation, autosomal dominant type 7|MRD7|intellectual disability, autosomal dominant 7|intellectual disability, autosomal dominant type 7|autosomal dominant mental retardation 7 OMIM:614104|DOID:0070037|Orphanet:464306|UMLS:C3279839 owl:Class MONDO:0013612 biolink:NamedThing Geleophysic dysplasia 2 Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene. tmpak2llvmy_mondo_relaxed.owl FBN1 geleophysic dysplasia|GELEOPHYSIC dysplasia 2|Geleophysic dysplasia type 2|GPHYSD2|Geleophysic dysplasia 2|geleophysic dysplasia caused by mutation in FBN1 OMIM:614185|DOID:0111726|UMLS:C3280054 owl:Class MONDO:0000127 biolink:NamedThing geleophysic dysplasia Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). tmpak2llvmy_mondo_relaxed.owl Geleophysic dwarfism|geleophysic dwarfism syndrome MedDRA:10063361|Orphanet:2623|ICD9:759.89|ICD10:Q87.1|GARD:0002449|OMIMPS:231050|SCTID:28557005|DOID:0111724 owl:Class UBERON:0009661 biolink:NamedThing midbrain nucleus Nucleus located in the midbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005229 biolink:NamedThing lower leg epithelium An epithelium that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001679 biolink:NamedThing ethmoid bone A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP] tmpak2llvmy_mondo_relaxed.owl ethmoidal bone|ethmoid|os ethmoidale owl:Class NCBITaxon:5014 biolink:NamedThing Dothideales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0001581 biolink:NamedThing decreased contractility A contractility which is relatively low. tmpak2llvmy_mondo_relaxed.owl low contractility owl:Class GO:0043030 biolink:NamedThing regulation of macrophage activation Any process that modulates the frequency or rate of macrophage activation. tmpak2llvmy_mondo_relaxed.owl regulation of macrophage polarization owl:Class UBERON:0005564 biolink:NamedThing gonad primordium Portion of tissue that gives rise to the immature gonad. tmpak2llvmy_mondo_relaxed.owl future gonad|undifferentiated gonad|gonadal primordium|primitive gonad|immature gonad owl:Class HP:0100659 biolink:NamedThing Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cerebral vasculature|Abnormality of the cerebral blood vessels UMLS:C4022001 doelkens 2010-12-30T11:39:15Z human_phenotype owl:Class CL:0000746 biolink:NamedThing cardiac muscle cell Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. tmpak2llvmy_mondo_relaxed.owl heart muscle cell|cardiocyte|cardiac muscle fiber|cardiac myocyte|cardiomyocyte CALOHA:TS-0115|BTO:0001539|FMA:14067 This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. FMA:83808 cell owl:Class MONDO:0012155 biolink:NamedThing choanal atresia Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. tmpak2llvmy_mondo_relaxed.owl imperforate nares|posterior choanal atresia|choanal atresia, POSTERIOR|PCA|atresia of nares OMIM:608911|MedDRA:10008587|Orphanet:137914|ICD9:748.0|DOID:9574|ICD10:Q30.0|SCTID:204508009|MESH:D002754 owl:Class MONDO:0003973 biolink:NamedThing tubular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. tmpak2llvmy_mondo_relaxed.owl testicular seminoma, tubular variant NCIT:C40959|DOID:6706|UMLS:C1515294 owl:Class MONDO:0003669 biolink:NamedThing testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. tmpak2llvmy_mondo_relaxed.owl testicular seminoma|testis seminoma|testicular seminomatous germ cell tumor|seminoma of testis|seminoma of the testis|testicular seminoma (disease)|testicular seminoma Pure|seminoma testis|seminomatous germ cell tumor of testis ICD9:186.9|SCTID:255107005|NCIT:C7328|GARD:0004792|EFO:0003101|DOID:5842|Orphanet:842|ICD10:C62.9|HP:0100617 https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma owl:Class MONDO:0007333 biolink:NamedThing van der Woude syndrome 1 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. tmpak2llvmy_mondo_relaxed.owl van der Woude syndrome caused by mutation in IRF6|VWS1|cleft lip and/or palate with mucous cysts of Lower lip|Van Der Woude syndrome type 1|van der Woude syndrome 1|IRF6 van der Woude syndrome|VAN DER Woude syndrome 1|Vdws|lip-pit syndrome OMIM:119300 owl:Class HGNC:29203 biolink:NamedThing TBC1D24 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050669 biolink:NamedThing negative regulation of homocysteine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpak2llvmy_mondo_relaxed.owl downregulation of homocysteine metabolic process|down regulation of homocysteine metabolic process|negative regulation of homocysteine metabolism|negative regulation of Hcy metabolism|down-regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|negative regulation of Hcy metabolic process owl:Class MONDO:0022975 biolink:NamedThing diaphragmatic agenesis radial aplasia omphalocele tmpak2llvmy_mondo_relaxed.owl GARD:0001843 https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele owl:Class MONDO:0004857 biolink:NamedThing tendinitis Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. tmpak2llvmy_mondo_relaxed.owl tendonitis|tendon inflammation|inflammation of tendon MESH:D052256|NCIT:C97141|SCTID:34840004|DOID:971|ICD10:M77.9|UMLS:C0039503 owl:Class MONDO:0001950 biolink:NamedThing corneal ectasia tmpak2llvmy_mondo_relaxed.owl SCTID:14748007|UMLS:C0155135|ICD9:371.71|DOID:1436|ICD10:H18.71 owl:Class MONDO:0014314 biolink:NamedThing sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome tmpak2llvmy_mondo_relaxed.owl sacral agenesis with vertebral anomalies|SAVA Orphanet:397927|ICD10:Q87.5|OMIM:615709|UMLS:C3810343 owl:Class PATO:0001993 biolink:NamedThing multicellular A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001992 biolink:NamedThing cellularity An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043519 biolink:NamedThing burn A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. tmpak2llvmy_mondo_relaxed.owl Burn(s)|burn|Burn SCTID:125666000|NCIT:C34441|EFO:1001768|MESH:D002056 owl:Class MONDO:0003420 biolink:NamedThing bile duct cystadenoma An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. tmpak2llvmy_mondo_relaxed.owl cystadenoma of the bile duct|bile duct mucinous cystic neoplasm|cystadenoma of bile duct|bile duct cystadenoma|bile duct cystadenoma (morphologic abnormality) NCIT:C4129|UMLS:C0334285|ICDO:8161/0|DOID:5384 owl:Class CL:0000099 biolink:NamedThing interneuron Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. tmpak2llvmy_mondo_relaxed.owl FMA:67313|BTO:0003811|FBbt:00005125|WBbt:0005113 cell owl:Class UBERON:0005881 biolink:NamedThing autopodial extension A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. tmpak2llvmy_mondo_relaxed.owl limb outgrowth|digit or predigit owl:Class NCBITaxon:724 biolink:NamedThing Haemophilus tmpak2llvmy_mondo_relaxed.owl PMID:1736960|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:712 biolink:NamedThing Pasteurellaceae tmpak2llvmy_mondo_relaxed.owl PMID:29923825|PMID:15388716|PMID:17220461|PMID:15280320|PMID:10843050|PMID:2223605|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017910 biolink:NamedThing dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. tmpak2llvmy_mondo_relaxed.owl Desiccytosis hereditary|hereditary xerocytosis|xerocytosis hereditary Orphanet:3202|SCTID:715526002|GARD:0005623|DOID:0111575|ICD10:D58.8 owl:Class MONDO:0016322 biolink:NamedThing neuroendocrine cell hyperplasia of infancy Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure. tmpak2llvmy_mondo_relaxed.owl NEHI|NCHI|CTI|chronic tachypnoe of infancy SCTID:707435002|Orphanet:217560|UMLS:C3161105|NCIT:C120169|ICD10:J84.841 owl:Class MONDO:0014063 biolink:NamedThing mitochondrial complex III deficiency nuclear type 2 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex III deficiency, nuclear type 2|mitochondrial complex III deficiency caused by mutation in TTC19|MC3DN2|TTC19 mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 2|mitochondrial complex III deficiency nuclear type 2 UMLS:C3554605|OMIM:615157|DOID:0060351 owl:Class MONDO:0015418 biolink:NamedThing lateral facial cleft tmpak2llvmy_mondo_relaxed.owl Tessier number 7 facial cleft|transverse facial cleft ICD10:Q18.8|Orphanet:141269 owl:Class MONDO:0014811 biolink:NamedThing cerebellar atrophy, visual impairment, and psychomotor retardation; tmpak2llvmy_mondo_relaxed.owl CAVIPMR|cerebellar atrophy, visual impairment, and psychomotor retardation UMLS:C4225172|OMIM:616875 owl:Class MONDO:0021343 biolink:NamedThing carcinoma of floor of mouth A carcinoma that involves the mouth floor. tmpak2llvmy_mondo_relaxed.owl mouth floor carcinoma|floor of mouth carcinoma|carcinoma of the floor of the mouth|carcinoma of mouth floor|mouth floor cancer|floor of the mouth carcinoma NCIT:C9319|SCTID:449156009 owl:Class MONDO:0011841 biolink:NamedThing biotin-responsive basal ganglia disease tmpak2llvmy_mondo_relaxed.owl encephalopathy, thiamine-responsive|BBGD|biotin-thiamine-responsive basal ganglia disease|BTBGD|basal ganglia disease, biotin-responsive|THMD2|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) MESH:C537658|UMLS:C1843807|GARD:0010237|OMIM:607483|Orphanet:65284|ICD10:G25.8|ICD9:333.99|SCTID:703522009|DOID:0050659 owl:Class MONDO:0005112 biolink:NamedThing malignant pleural mesothelioma A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. tmpak2llvmy_mondo_relaxed.owl malignant mesothelioma of pleura|pleural malignant mesothelioma|malignant pleural mesothelioma|pleura mesothelioma|malignant mesothelioma of the pleura|pleural diffuse malignant mesothelioma SCTID:254645002|NCIT:C7376|DOID:7474|UMLS:C0812413|ICD10:C45.0|EFO:0000770 owl:Class MONDO:0008972 biolink:NamedThing rhizomelic chondrodysplasia punctata type 1 A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata, type 1|RCDP1|peroxisome biogenesis disorder 9|Pbd9|Rcdp1|chondrodystrophia calcificans punctata|PEX7 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata type 1|rhizomelic chondrodysplasia punctata caused by mutation in PEX7 OMIM:215100|ICD10:Q77.3|DOID:0110851|Orphanet:309789|GARD:0006049|UMLS:C1859133 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 owl:Class MONDO:0011708 biolink:NamedThing autosomal dominant nonsyndromic deafness 36 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpak2llvmy_mondo_relaxed.owl DFNA36|autosomal dominant nonsyndromic deafness type 36|deafness, autosomal dominant type 36|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|TMC1 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 36|deafness, autosomal dominant 36 MESH:C564675|DOID:0110563|OMIM:606705|ICD10:H90.3|UMLS:C1847626 owl:Class CHEBI:68452 biolink:NamedThing azole Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. tmpak2llvmy_mondo_relaxed.owl azoles owl:Class UBERON:0005691 biolink:NamedThing 4th arch mesenchyme Mesenchyme that is part of a pharyngeal arch 4. tmpak2llvmy_mondo_relaxed.owl 4th branchial arch mesenchyme|pharyngeal arch 4 mesenchyme|4th pharyngeal arch mesenchyme owl:Class UBERON:0018143 biolink:NamedThing transverse process of cervical vertebra A transverse process that is part of a cervical vertebra tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003957 biolink:NamedThing adult pineoblastoma A pineoblastoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl pineoblastoma of adults|pineoblastoma|adult pineoblastoma DOID:6648|NCIT:C8292|UMLS:C0281332 owl:Class MONDO:0018105 biolink:NamedThing Wolfram syndrome Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). tmpak2llvmy_mondo_relaxed.owl WFS|DIDMOAD|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|diabetes mellitus and insipidus with optic atrophy and deafness|DIDMOAD syndrome|Wolfram syndrome DOID:10632|ICD9:250.80|GARD:0007898|MESH:D014929|Orphanet:3463|ICD10:E13.8|NCIT:C35133|SCTID:70694009|UMLS:C0043207|UMLS:CN184630 owl:Class HGNC:20188 biolink:NamedThing DNAAF2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004827 biolink:NamedThing thyroid gland medulla A medulla that is part of a thyroid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl medulla of thyroid gland|thyroid medulla|medulla of thyroid gland follicle|thyroid gland follicle medulla|medulla of thyroid|thyroid follicle medulla|medulla of thyroid follicle owl:Class MONDO:0012137 biolink:NamedThing Carney complex - trismus - pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). tmpak2llvmy_mondo_relaxed.owl CARNEY complex variant|Carney complex variant ICD10:Q68.8|Orphanet:319340|OMIM:608837 owl:Class MONDO:0016432 biolink:NamedThing heart-hand syndrome Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. tmpak2llvmy_mondo_relaxed.owl atriodigital dysplasia UMLS:CN201390|ICD10:Q87.2|Orphanet:228184 owl:Class MONDO:0014407 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene. tmpak2llvmy_mondo_relaxed.owl MPPH2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 UMLS:C4014738|OMIM:615937 owl:Class MONDO:0019375 biolink:NamedThing megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. tmpak2llvmy_mondo_relaxed.owl megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|MPPH syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ICD10:Q04.8|GARD:0010341|SCTID:722036008|OMIMPS:603387|Orphanet:83473 owl:Class UBERON:0013774 biolink:NamedThing diaphysis of metatarsal bone A diaphysis that is part of a metatarsal bone. tmpak2llvmy_mondo_relaxed.owl shaft of metatarsal bone|metatarsal bone diaphysis|diaphysis of metatarsal|metatarsal diaphysis owl:Class GO:0070925 biolink:NamedThing organelle assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005949 biolink:NamedThing roseolovirus infectious disease Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. tmpak2llvmy_mondo_relaxed.owl Roseolovirus disease or disorder|Roseolovirus caused disease or disorder|Roseolovirus infectious disease EFO:0007474|UMLS:C0376549|MESH:D019349 owl:Class MONDO:0007331 biolink:NamedThing cleft chin tmpak2llvmy_mondo_relaxed.owl Chin dimple|cleft chin OMIM:119000 May be obsoleted. See https://github.com/monarch-initiative/hpo-annotation-data/pull/234 owl:Class MONDO:0020356 biolink:NamedThing coloboma of iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. tmpak2llvmy_mondo_relaxed.owl coloboma of iris (disease)|coloboma of the iris|coloboma of iris coloboma of iris (disease) ICD10:Q13.0|HP:0000612|SCTID:9446007|GARD:0001434|MedDRA:10052642|NCIT:C98879|Orphanet:98944 owl:Class MONDO:0007350 biolink:NamedThing coloboma, ocular, autosomal dominant tmpak2llvmy_mondo_relaxed.owl coloboma, Uveoretinal|coloboma, ocular, autosomal dominant|coloboma of iris, choroid, and retina OMIM:120200 owl:Class MONDO:0015703 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta tmpak2llvmy_mondo_relaxed.owl T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta ICD10:D81.2|Orphanet:169160 owl:Class NCBITaxon:451866 biolink:NamedThing Taphrinomycotina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4890 biolink:NamedThing Ascomycota tmpak2llvmy_mondo_relaxed.owl sac fungi|ascomycetes PMID:17572334|GC_ID:1 ncbi_taxonomy owl:Class GO:0099536 biolink:NamedThing synaptic signaling Cell-cell signaling to, from or within a synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009156 biolink:NamedThing ectrodactyly-polydactyly syndrome A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl ectrodactyly-polydactyly|ectrodactyly polydactyly ICD10:Q74.8|OMIM:225290|Orphanet:1892|GARD:0002068|MESH:C565601|UMLS:C1857040 https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly owl:Class MONDO:0013220 biolink:NamedThing hemochromatosis type 2B Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene. tmpak2llvmy_mondo_relaxed.owl HAMP hemochromatosis type 2|hemochromatosis type 2 caused by mutation in HAMP|hemochromatosis, type 2B|HFE2B DOID:0111032|MESH:C566557|UMLS:C1865616|OMIM:613313 owl:Class MONDO:0019257 biolink:NamedThing hemochromatosis type 2 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpak2llvmy_mondo_relaxed.owl HFE2|hemochromatosis juvenile|juvenile hemochromatosis|JHH|iron overload disease juvenile SCTID:50855007|UMLS:CN205842|GARD:0010092|DOID:0111034|MESH:C537247|ICD10:E83.1|Orphanet:79230 owl:Class MONDO:0014471 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex deficiency A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). tmpak2llvmy_mondo_relaxed.owl isolated mitochondrial respiratory chain complex V deficiency|isolated ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency OMIMPS:604273|UMLS:C4015062|Orphanet:254913|ICD10:E88.8|DOID:0111143 Consider splitting out nuclear type for OMIMPS owl:Class MONDO:0001182 biolink:NamedThing idiopathic corneal edema tmpak2llvmy_mondo_relaxed.owl ICD9:371.21|ICD10:H18.22|UMLS:C0155109|SCTID:1794009|DOID:11033 owl:Class MONDO:0006712 biolink:NamedThing corneal edema Hazy, swollen cornea. tmpak2llvmy_mondo_relaxed.owl corneal oedema UMLS:C0010037|ICD9:371.2|DOID:11030|ICD10:H18.20|SCTID:27194006|MedDRA:10011007|MESH:D015715|ICD9:371.20|EFO:1000879 owl:Class MONDO:0015537 biolink:NamedThing necrobiotic xanthogranuloma A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement. tmpak2llvmy_mondo_relaxed.owl NXG ICD10:D76.3|EFO:1001376|UMLS:C1275339|Orphanet:158011|MESH:D058252|ICD9:709.8|SCTID:404164003|GARD:0010951 https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma owl:Class GO:0009725 biolink:NamedThing response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpak2llvmy_mondo_relaxed.owl response to hormone stimulus|growth regulator owl:Class MONDO:0001831 biolink:NamedThing irregular astigmatism tmpak2llvmy_mondo_relaxed.owl UMLS:C0152194|SCTID:47099006|ICD10:H52.21|ICD9:367.22|DOID:13919 owl:Class MONDO:0011581 biolink:NamedThing arrhythmogenic cardiomyopathy with woolly hair and keratoderma A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. tmpak2llvmy_mondo_relaxed.owl Carvajal syndrome|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|DCWHK|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|arrhythmogenic cardiomyopathy with woolly hair and keratoderma|cardiomyopathy, dilated, with woolly hair and keratoderma|keratoderma with woolly hair type II|dilated cardiomyopathy with woolly hair and keratoderma|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|cardiomyopathy dilated with woolly hair and keratoderma|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|KWWH type II Orphanet:65282|DOID:0090128|OMIM:605676|MESH:C535581|SCTID:719835006|UMLS:C1854063|GARD:0005595 https://github.com/monarch-initiative/mondo/issues/1120|https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma owl:Class UBERON:0004992 biolink:NamedThing mucosa of descending colon A mucosa that is part of a descending colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl descending colon mucous membrane|descending colon mucosa|mucous membrane of descending colon|descending colon organ mucosa|organ mucosa of descending colon|descending colon mucosa of organ|mucosa of organ of descending colon owl:Class MONDO:0017320 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. tmpak2llvmy_mondo_relaxed.owl PEPCK deficiency|phosphoenolpyruvate carboxykinase (GTP) deficiency NCIT:C99015|UMLS:C0268194|Orphanet:2880|ICD9:277.89|SCTID:5335002|ICD10:E74.4|MESH:C536654 owl:Class MONDO:0009123 biolink:NamedThing dopamine beta-hydroxylase deficiency Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. tmpak2llvmy_mondo_relaxed.owl dopamine beta hydroxylase deficiency|norepinephrine deficiency|congenital dopamine beta-hydroxylase deficiency|dopamine beta-hydroxylase deficiency|dopamine BETA-HYDROXYLASE deficiency, congenital|noradrenaline deficiency ICD9:270.8|UMLS:C0342687|Orphanet:230|GARD:0001903|SCTID:237923004|ICD10:G90.8|OMIM:223360|GARD:1903|DOID:0090145|MESH:C535600 https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency owl:Class UBERON:0003603 biolink:NamedThing lower respiratory tract cartilage A cartilage that is part of a lower respiratory tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cartilage of lower respiratory tract owl:Class MONDO:0007038 biolink:NamedThing Achoo syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant compelling helio ophthalmic outburst syndrome|Peroutka sneeze|Achoo syndrome|photic sneeze reflex|autosomal dominant compelling Helioophthalmic outburst syndrome|sneezing from Light exposure UMLS:C1863416|OMIM:100820|EFO:0007887|GARD:0010036|MESH:C535300 owl:Class MONDO:0016891 biolink:NamedThing partial deletion of the short arm of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 9p|partial monosomy of the short arm of chromosome 9|partial deletion of chromosome 9p|partial deletion of the short arm of chromosome type 9 2021-01-01 ICD10:Q93.5|Orphanet:261929 Reason: duplicate. This will be merged with MONDO:0008013 chromosome 9p deletion syndrome owl:Class MONDO:0016090 biolink:NamedThing late-infantile/juvenile Krabbe disease tmpak2llvmy_mondo_relaxed.owl Krabbe disease, late-onset SCTID:41142009|ICD10:E75.2|UMLS:CN200855|Orphanet:206443 owl:Class HGNC:29914 biolink:NamedThing NUP107 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033655 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 20 tmpak2llvmy_mondo_relaxed.owl MC4DN20 OMIM:619064 owl:Class MONDO:0018931 biolink:NamedThing mucolipidosis type III Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. tmpak2llvmy_mondo_relaxed.owl mucolipidosis 3 Alpha/Beta|ML3|mucolipidosis type 3 alpha/beta|ML 3 Alpha/Beta|mucolipidosis type 3A|mucolipidosis 3A|ML 3 alpha/beta|mucolipidosis 3 Alpha/Beta, atypical|ML III alpha/beta|mucolipidosis 3|mucolipidosis III ALPHA/BETA|ML 3 A|ML 3|mucolipidosis III|mucolipidosis type III alpha/beta|pseudo-Hurler polydystrophy|MLIII UMLS:CN237499|Orphanet:577|SCTID:65764006|DOID:0080071|ICD10:E77.0|GARD:0003806|OMIM:252600|Orphanet:423461 https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta owl:Class CL:0002363 biolink:NamedThing keratocyte A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. tmpak2llvmy_mondo_relaxed.owl corneal fibroblast|corneal keratocyte tmeehan 2010-09-22T01:57:40Z cell owl:Class CL:0000005 biolink:NamedThing fibroblast neural crest derived Any fibroblast that is deriived from the neural crest. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0011414 biolink:NamedThing Peters anomaly Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. tmpak2llvmy_mondo_relaxed.owl Peters anomaly (disease)|Peters anomaly|ASGD5|Peters congenital glaucoma|anterior segment dysgenesis 5 Peters anomaly (disease) DOID:0060673|OMIM:604229|MESH:C537884|HP:0000659|GARD:0007377|MedDRA:10059202|ICD10:Q13.4|SCTID:204153003|ICD9:743.44|Orphanet:708 owl:Class MONDO:0020220 biolink:NamedThing corneoiridogoniodysgenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:98636 owl:Class GO:0016595 biolink:NamedThing glutamate binding Binding to glutamate, the anion of 2-aminopentanedioic acid. tmpak2llvmy_mondo_relaxed.owl glutamic acid binding owl:Class GO:0016597 biolink:NamedThing amino acid binding Binding to an amino acid, organic acids containing one or more amino substituents. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007429 biolink:NamedThing optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy tmpak2llvmy_mondo_relaxed.owl dominant optic atrophy plus syndrome|optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|optic atrophy 1 and deafness Orphanet:3212|UMLS:C3276549|GARD:0009897|OMIM:125250 owl:Class CL:2000080 biolink:NamedThing mesenchymal stem cell of abdominal adipose Any mesenchymal stem cell of adipose that is part of a abdomen. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T19:10:34Z cell owl:Class CL:0002570 biolink:NamedThing mesenchymal stem cell of adipose A mesenchymal stem cell of adipose tissue. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-01T09:57:17Z cell owl:Class MONDO:0008800 biolink:NamedThing microphthalmia with limb anomalies Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. tmpak2llvmy_mondo_relaxed.owl anophthalmos-syndactyly|Ophthalmoacromelic syndrome|anophthalmia-syndactyly syndrome|anophthalmos with limb anomalies|Waardenburg anophthalmia syndrome|anophthalmia Waardenburg syndrome|OAS|anophthalmia-syndactyly|MLA|ophthalmoacromelic syndrome|microphthalmia with limb anomalies ICD9:755.8|SCTID:703403003|Orphanet:1106|DOID:0060861|GARD:0000722|OMIM:206920|ICD10:Q87.2|MESH:C537769 owl:Class MONDO:0006373 biolink:NamedThing pituitary gland adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. tmpak2llvmy_mondo_relaxed.owl adenoma of pituitary gland|pituitary adenoma|adenoma of the pituitary|adenoma of the pituitary gland|pituitary gland adenoma|PTAD|adenoma of pituitary|adenoma, anterior lobe pituitary gland, benign ICD10:D35.2|ONCOTREE:PTAD|Orphanet:99408|MedDRA:10035079|UMLS:C0032000|SCTID:254956000|NCIT:C3329|DOID:3829|EFO:1000478|ICDO:8272/0 owl:Class MONDO:0005299 biolink:NamedThing brain ischemia Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. tmpak2llvmy_mondo_relaxed.owl ischemia cerebrovascular|ischemic disease of brain|cerebrovascular ischemia|ischemic encephalopathy|brain ischemia|brain ischemic disease|ischaemic encephalopathy SCTID:389100007|ICD9:348.89|MESH:D002545|DOID:2316|EFO:0003883|NCIT:C78394|UMLS:C0007786 owl:Class ECTO:4000036 biolink:NamedThing exposure to decreased air pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in pressure of air owl:Class NCBITaxon:50557 biolink:NamedThing Insecta tmpak2llvmy_mondo_relaxed.owl insects|true insects GC_ID:1 ncbi_taxonomy owl:Class HP:0100360 biolink:NamedThing Contractures of the joints of the upper limbs tmpak2llvmy_mondo_relaxed.owl UMLS:C2750635 doelkens 2010-11-11T04:18:29Z human_phenotype owl:Class GO:0072507 biolink:NamedThing divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014417 biolink:NamedThing spinocerebellar ataxia type 38 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 38|SCA38|spinocerebellar ataxia 38 UMLS:C4014812|EFO:0009056|ICD10:G11.8|UMLS:C4518337|SCTID:734021001|GARD:0012369|OMIM:615957|Orphanet:423296|DOID:0050985 owl:Class MONDO:0018118 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:352306|UMLS:CN227265 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class NCBITaxon:6035 biolink:NamedThing Encephalitozoon cuniculi tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1902494 biolink:NamedThing catalytic complex A protein complex which is capable of catalytic activity. tmpak2llvmy_mondo_relaxed.owl enzyme complex owl:Class GO:0032991 biolink:NamedThing protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. tmpak2llvmy_mondo_relaxed.owl macromolecule complex|macromolecular complex|protein complex|protein containing complex|protein-protein complex owl:Class ENVO:01001434 biolink:NamedThing anthropogenic ecosystem conversion process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011200 biolink:NamedThing torsion dystonia 7 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p. tmpak2llvmy_mondo_relaxed.owl dystonia 7, torsion|torsion dystonia, focal adult-onset|cervical dystonia, primary|torsion dystonia type 7|DYT7 Orphanet:93963|DOID:0090040|MESH:C566572|OMIM:602124 owl:Class HGNC:14630 biolink:NamedThing CRELD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054695 biolink:NamedThing myopathy, centronuclear, 6, with fiber-type disproportion tmpak2llvmy_mondo_relaxed.owl myopathy, centronuclear, 6, with fiber-type disproportion|myopathy, centronuclear, 6, with FIBER-type disproportion|CNM6 UMLS:C4540345|OMIM:617760|DOID:0111221 owl:Class MONDO:0008156 biolink:NamedThing autosomal dominant osteopetrosis 2 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). tmpak2llvmy_mondo_relaxed.owl OPTA2|osteopetrosis, autosomal dominant, type 2|marble bones, autosomal dominant|autosomal dominant osteopetrosis type 2|Albers-Schönberg osteopetrosis|autosomal dominant osteopetrosis type II|Albers-Schonberg disease, autosomal dominant|osteosclerosis Fragilis generalisata|osteopetrosis, autosomal dominant type 2|Albers-Schonberg osteopetrosis|autosomal dominant Albers-Schonberg disease|osteopetrosis, autosomal dominant 2|osteopetrosis autosomal dominant type 2 GARD:0000383|UMLS:C3179239|SCTID:725050005|ICD10:Q78.2|Orphanet:53|DOID:0110938|OMIM:166600 owl:Class UBERON:0010565 biolink:NamedThing manual digit 1 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl finger 1 metacarpus pre-cartilage condensation|fore limb digit 1 metacarpus pre-cartilage condensation|manual digit I metacarpus pre-cartilage condensation|metacarpal 1 pre-cartilage condensation|hand digit 1 metacarpus pre-cartilage condensation owl:Class MONDO:0002645 biolink:NamedThing cerebritis Inflammation of the cerebrum. tmpak2llvmy_mondo_relaxed.owl cerebral hemisphere inflammation|inflammation of cerebral hemisphere DOID:3431|NCIT:C27199|UMLS:C0742115 owl:Class UBERON:0015795 biolink:NamedThing right lung lobar bronchus epitheium A epithelium that is part of a lobar bronchus of right lung. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009315 biolink:NamedThing congenital factor XII deficiency Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. tmpak2llvmy_mondo_relaxed.owl Haf deficiency|factor XII deficiency disease|congenital factor XII deficiency|congenital Hageman factor deficiency|deficiency, Hageman|F12 deficiency|Hageman Factor deficiency|factor XII deficiency|coagulation factor 12 deficiency|factor 12 deficiency Orphanet:330|UMLS:C0015526|NCIT:C131740|SCTID:46981006|DOID:2231|ICD9:286.3|MESH:D005175|ICD10:D68.2|OMIM:234000|GARD:0006558 https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency owl:Class GO:0099024 biolink:NamedThing plasma membrane invagination An infolding of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3p biolink:NamedThing chr3p (Human) tmpak2llvmy_mondo_relaxed.owl 90900000 0 hg38 owl:Class MONDO:0012638 biolink:NamedThing microphthalmia-brain atrophy syndrome Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. tmpak2llvmy_mondo_relaxed.owl microphthalmia syndromic 10|microphthalmia and brain atrophy|MCOPS10|syndromic microphthalmia type 10|microphthalmia, syndromic 10|MOBA syndrome|MOBA MESH:C566985|GARD:0009292|OMIM:611222|ICD10:Q11.2|SCTID:720010009|Orphanet:77299 https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 owl:Class MONDO:0014058 biolink:NamedThing facial dysmorphism-immunodeficiency-livedo-short stature syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. tmpak2llvmy_mondo_relaxed.owl fils|fils syndrome|facial dysmorphism, immunodeficiency, livedo, and short stature OMIM:615139|UMLS:C3554576|Orphanet:352712|ICD10:Q87.1 owl:Class UBERON:0013777 biolink:NamedThing skin of palm of manus A zone of skin that is part of a palmar part of manus. tmpak2llvmy_mondo_relaxed.owl palmar skin of hand|skin of palmar area of hand owl:Class CL:2000004 biolink:NamedThing pituitary gland cell Any cell that is part of a pituitary gland. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-03-26T22:14:56Z cell owl:Class MONDO:0018446 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:G11.1|Orphanet:404481|UMLS:CN226191 owl:Class MONDO:0006046 biolink:NamedThing ovarian serous cystadenocarcinoma A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. tmpak2llvmy_mondo_relaxed.owl ovarian serous cystadenocarcinoma EFO:1000043|UMLS:C0279663|NCIT:C7978|DOID:5746 owl:Class MONDO:0024621 biolink:NamedThing serous cystadenocarcinoma A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. tmpak2llvmy_mondo_relaxed.owl serous cystadenocarcinoma|serous adenocarcinoma NCIT:C3778|ICDO:8441/3 owl:Class MONDO:0008124 biolink:NamedThing omphalocele, autosomal tmpak2llvmy_mondo_relaxed.owl omphalocele, autosomal|paraomphalocele|type - hypogastric - defect in the caudal fold|chromosome 1P31 Duplication syndrome|type - epigastric - defect in the cephalic fold GARD:0004218|OMIM:164750|UMLS:C3277235 owl:Class MONDO:0033486 biolink:NamedThing leukodystrophy, hypomyelinating, 14 tmpak2llvmy_mondo_relaxed.owl HLD14|hypomyelinating leukodystrophy 14|leukodystrophy, hypomyelinating, 14 OMIM:617899|UMLS:CN845004|DOID:0080296 owl:Class MONDO:0042433 biolink:NamedThing mycotic endocarditis An endocarditis (disease) caused by infection with Fungi. tmpak2llvmy_mondo_relaxed.owl fungal endocarditis|Fungi endocarditis (disease)|mycotic endocarditis|Fungi caused endocarditis (disease) SCTID:86348002|UMLS:C0276648 owl:Class MONDO:0005025 biolink:NamedThing endocarditis Inflammation of the endocardium. tmpak2llvmy_mondo_relaxed.owl endocarditis (disease)|endocarditis|inflammation of endocardium|endocardium inflammation endocarditis (disease) NCIT:C34582|ICD9:424.99|SCTID:56819008|ICD10:I33.9|ICD9:421.9|DOID:10314|HP:0100584|MESH:D004696|EFO:0000465 owl:Class MONDO:0011575 biolink:NamedThing cerebrooculonasal syndrome Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. tmpak2llvmy_mondo_relaxed.owl cerebrooculonasal syndrome OMIM:605627|UMLS:C1854108|SCTID:720855003|MESH:C565313|ICD10:Q87.0|Orphanet:66625|GARD:0003480 https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome owl:Class MONDO:0003419 biolink:NamedThing Bartholin gland adenoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. tmpak2llvmy_mondo_relaxed.owl Bartholin gland adenoma|Bartholin's gland adenoma|major vestibular gland adenoma UMLS:C1511048|NCIT:C40299|DOID:5382 owl:Class MONDO:0001224 biolink:NamedThing Angelucci syndrome Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. tmpak2llvmy_mondo_relaxed.owl Angelucci syndrome|Angelucci's syndrome|acute atopic conjunctivitis UMLS:C0001309|DOID:11203|ICD10:H10.1|SCTID:67678004|ICD9:372.05|NCIT:C34353 owl:Class MONDO:0001214 biolink:NamedThing acute conjunctivitis Acute inflammation of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl conjunctivitis (disease), acute|acute conjunctivitis (disease) ICD9:372.03|ICD10:H10.02|ICD9:372.00|UMLS:C0155141|NCIT:C35195|DOID:11184|SCTID:53726008 owl:Class MONDO:0032750 biolink:NamedThing arthrogryposis, distal, type 2B2 tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, type 2B2|DA2B2 DOID:0111601|OMIM:618435 owl:Class MONDO:0011128 biolink:NamedThing Sheldon-hall syndrome Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. tmpak2llvmy_mondo_relaxed.owl distal arthrogryposis type 2B|arthrogryposis multiplex congenita, distal, type 2B|Freeman Sheldon syndrome, variant|Sheldon-Hall syndrome|DA2B|arthrogryposis, distal, type 2B|Freeman-Sheldon syndrome variant|Freeman Sheldon variant|arthrogryposis multiplex congenita distal type 2B|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities Orphanet:1147|GARD:0009909|DOID:0111599|ICD10:Q68.8|UMLS:C1834523 owl:Class HP:0001920 biolink:NamedThing Renal artery stenosis The presence of stenosis of the renal artery. tmpak2llvmy_mondo_relaxed.owl Narrowing of kidney artery Fyler:2634|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|UMLS:C0035067|MSH:D012078 human_phenotype owl:Class HP:0100545 biolink:NamedThing Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. tmpak2llvmy_mondo_relaxed.owl Narrowing of an artery SNOMEDCT_US:68109007|UMLS:C0038449 doelkens 2010-12-21T01:30:07Z human_phenotype owl:Class MONDO:0007339 biolink:NamedThing blepharocheilodontic syndrome An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. tmpak2llvmy_mondo_relaxed.owl ectropion inferior-cleft lip and/or palate syndrome|blepharocheilodontic syndrome 1|Elsching syndrome|ectropion, inferior, with cleft lip and/or palate|BCDS1|clefting-ectropion-conical teeth syndrome|lagophthalmia with bilateral cleft lip and palate|blepharo-cheilo-dontic syndrome|ectropion inferior-cleft lip and or palate syndrome|blepharocheilodontic syndrome|lagophthalmia-cleft lip and palate syndrome|ectropion inferior cleft lip and or palate|BCD syndrome|BCDS|blepharo-cheilo-odontic syndrome|clefting, ectropion, and conical teeth|Elschnig syndrome GARD:0002071|Orphanet:1997|MESH:C536188|OMIMPS:119580|SCTID:717911008|DOID:0080344|ICD10:Q87.8|UMLS:C1861536 https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate owl:Class CL:0000333 biolink:NamedThing migratory neural crest cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. tmpak2llvmy_mondo_relaxed.owl FMA:86667 cell owl:Class HGNC:3437 biolink:NamedThing ERCC5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003565 biolink:NamedThing urethral villous adenoma An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. tmpak2llvmy_mondo_relaxed.owl urethral villous adenoma|urethra villous adenoma NCIT:C39872|DOID:5643|UMLS:C1519828 owl:Class UBERON:0003419 biolink:NamedThing mesenchyme of parotid Mesenchyme that is part of a developing parotid gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of parotid gland|parotid mesenchyme|parotid gland mesenchyme owl:Class MONDO:0001650 biolink:NamedThing acute cystitis An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. tmpak2llvmy_mondo_relaxed.owl acute cystitis|cystitis, acute|acute cystitis (disease) acute cystitis (disease) ICD9:595.0|DOID:13148|NCIT:C26934|UMLS:C0149523|ICD10:N30.0|SCTID:68226007 owl:Class MONDO:0000384 biolink:NamedThing bladder benign neoplasm A benign abnormal growth of the cells that comprise the bladder. tmpak2llvmy_mondo_relaxed.owl benign urinary bladder neoplasm|benign neoplasm of the bladder|benign neoplasm of bladder|benign tumor of bladder|benign tumor of urinary bladder|benign neoplasm of urinary bladder|benign urinary bladder tumor|urinary bladder benign neoplasm|benign bladder tumor|benign bladder neoplasm|benign tumor of the urinary bladder|benign neoplasm of the urinary bladder|benign tumor of the bladder DOID:0050623|UMLS:C0154017|SCTID:91992005|ICD9:223.3|NCIT:C3618 owl:Class MONDO:0003312 biolink:NamedThing ovarian endometrioid stromal and related neoplasms A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal and related neoplasms of ovary|ovarian endometrioid stromal sarcoma|ovarian endometrioid stromal and related neoplasms|ovary endometrioid stromal and related neoplasms DOID:5169|UMLS:C4288544|NCIT:C40065 owl:Class MONDO:0022831 biolink:NamedThing congenital heart disease ptosis hypodontia craniostosis tmpak2llvmy_mondo_relaxed.owl GARD:0001483 https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis owl:Class PATO:0001291 biolink:NamedThing electromagnetic (EM) radiation quality A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007077 biolink:NamedThing Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. tmpak2llvmy_mondo_relaxed.owl hypopigmentation/deafness of Tietz|hypopigmentation-deafness syndrome|albinism-deafness of Tietz|Tietz albinism-deafness syndrome|TADS|Tietz syndrome UMLS:C0391816|SCTID:403805009|DOID:0090002|ICD9:270.2|Orphanet:42665|MESH:C536919|OMIM:103500|GARD:0007772 Editor note: consider classification under albinism https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome owl:Class UBERON:0000958 biolink:NamedThing medulla of organ Middle part of an organ, surrounded by the cortex. tmpak2llvmy_mondo_relaxed.owl medulla owl:Class HP:0004360 biolink:NamedThing Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. tmpak2llvmy_mondo_relaxed.owl Acid base imbalance MSH:D000137|UMLS:C0001118 peter 2008-03-17T03:35:00Z human_phenotype owl:Class MONDO:0032848 biolink:NamedThing immunodeficiency 65, susceptibility to viral infections tmpak2llvmy_mondo_relaxed.owl IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS|IMD65 OMIM:618648 owl:Class UBERON:0012650 biolink:NamedThing gastroduodenal junction A anatomical junction that connects a stomach and connects a duodenum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054724 biolink:NamedThing spermatogenic failure 20 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 20|SPGF20 DOID:0070166|OMIM:617593 owl:Class MONDO:0006322 biolink:NamedThing non-neoplastic bile duct disorder A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. tmpak2llvmy_mondo_relaxed.owl non-neoplastic bile duct disorder NCIT:C35774|EFO:1000400|UMLS:C3275160 owl:Class UBERON:0016509 biolink:NamedThing cavity of right ventricle Luminal space of the right ventricle of the heart. tmpak2llvmy_mondo_relaxed.owl right ventricle lumen|right ventricular cavity owl:Class MONDO:0005672 biolink:NamedThing blastomycosis Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. tmpak2llvmy_mondo_relaxed.owl Blastomyces dermatitidis disease or disorder|Blastomyces dermatitidis infection|Gilchrist's disease|Blastomyces dermatitidis infectious disease|Blastomyces dermatitidis caused disease or disorder|blastomycotic infection|North American blastomycosis|Chicago disease|infection by Blastomyces dermatitidis ICD10:B40.9|ICD9:116|UMLS:C0005717|NCIT:C34429|EFO:0007174|CSP:1988-4119|ICD9:116.0|SCTID:191950004|GARD:0005931|DOID:12663|ICD10:B40|MESH:D001759|UMLS:C0005716 https://rarediseases.info.nih.gov/diseases/5931/blastomycosis owl:Class MONDO:0011766 biolink:NamedThing 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome tmpak2llvmy_mondo_relaxed.owl 46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy UMLS:C2751325|Orphanet:168563|OMIM:607080|ICD10:Q56.1|MESH:C567773 owl:Class MONDO:0008455 biolink:NamedThing spinal muscular atrophy, segmental tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy, segmental OMIM:183020|UMLS:C1866774|MESH:C566670 owl:Class NCBITaxon:90964 biolink:NamedThing Staphylococcaceae tmpak2llvmy_mondo_relaxed.owl Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1385 biolink:NamedThing Bacillales tmpak2llvmy_mondo_relaxed.owl Bacillus/Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class GO:0004351 biolink:NamedThing glutamate decarboxylase activity Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. tmpak2llvmy_mondo_relaxed.owl cysteic acid decarboxylase activity|L-glutamic decarboxylase activity|gamma-glutamate decarboxylase activity|L-glutamate alpha-decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|aspartic alpha-decarboxylase|L-aspartate-alpha-decarboxylase activity|L-glutamic acid decarboxylase activity owl:Class GO:0016831 biolink:NamedThing carboxy-lyase activity Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. tmpak2llvmy_mondo_relaxed.owl decarboxylase activity owl:Class UBERON:0006537 biolink:NamedThing female reproductive gland secretion A portion of organism substance that is secreted by a female reproductive gland. tmpak2llvmy_mondo_relaxed.owl female reproductive system fluid/secretion|female reproductive system fluid|female reproductive system secretion owl:Class HGNC:1809 biolink:NamedThing CDY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044991 biolink:NamedThing upper digestive tract disease A disease or disorder that involves the upper digestive tract. tmpak2llvmy_mondo_relaxed.owl disease of upper digestive tract|upper digestive tract disease or disorder|disorder of upper gastrointestinal tract|disease or disorder of upper digestive tract|upper gastrointestinal tract disease|disorder of upper digestive tract SCTID:119291004 owl:Class GO:0033151 biolink:NamedThing V(D)J recombination The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpak2llvmy_mondo_relaxed.owl V-D-J recombination|V-J recombination|V(D)J joining|V-D-J joining|V-J joining owl:Class MONDO:0033009 biolink:NamedThing Galloway-Mowat syndrome 5 tmpak2llvmy_mondo_relaxed.owl Galloway-Mowat syndrome 5|GAMOS5 UMLS:CN570507|DOID:0080247|OMIM:617731 owl:Class MONDO:0030916 biolink:NamedThing intellectual disability, autosomal dominant 50 tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 50|autosomal dominant mental retardation 50|MRD50|intellectual disability, autosomal dominant 50|mental retardation, autosomal dominant 50 DOID:0080233|OMIM:617787|UMLS:CN671930 owl:Class MONDO:0018224 biolink:NamedThing hydroa vacciniforme-like lymphoma A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. tmpak2llvmy_mondo_relaxed.owl hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma|hydroa vacciniforme-like lymphoproliferative disorder|angiocentric cutaneous T-cell lymphoma of childhood|hV-like lymphoma|HVLL|hydroa vacciniforme-like lymphoma UMLS:C1708397|ICD10:C84.5|ICDO:9725/3|NCIT:C45327|Orphanet:364039|SCTID:763719001 owl:Class MONDO:0001188 biolink:NamedThing esophagus lymphoma An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpak2llvmy_mondo_relaxed.owl primary esophageal lymphoma|esophageal lymphoma|lymphoma of the esophagus|lymphoma of esophagus|esophagus lymphoma DOID:1106|NCIT:C5687|UMLS:C1333459 owl:Class PATO:0000998 biolink:NamedThing viscous A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000992 biolink:NamedThing viscosity A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29812 biolink:NamedThing DCPS tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:9001793 biolink:NamedThing exposure to anaesthetic An exposure to anaesthetic. tmpak2llvmy_mondo_relaxed.owl exposure to anaesthetic owl:Class MONDO:0009679 biolink:NamedThing arthrogryposis due to muscular dystrophy tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, producing arthrogryposis|congenital muscular dystrophy producing arthrogryposis DOID:0110631|OMIM:253900|Orphanet:1155|UMLS:C1850865|ICD10:M62.8|MESH:C564985|GARD:0000779 https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy owl:Class GO:0002654 biolink:NamedThing positive regulation of tolerance induction dependent upon immune response Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpak2llvmy_mondo_relaxed.owl upregulation of tolerance induction dependent upon immune response|up-regulation of tolerance induction dependent upon immune response|positive regulation of immune response-dependent tolerance induction|activation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response|up regulation of tolerance induction dependent upon immune response owl:Class CHEBI:65296 biolink:NamedThing primary ammonium ion An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl a primary amine|substituted ammonium owl:Class MONDO:0018211 biolink:NamedThing Balint syndrome Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. tmpak2llvmy_mondo_relaxed.owl optic ataxia-gaze apraxia-simultanagnosia syndrome|Balint-Holmes syndrome|psychic paralysis of visual fixation SCTID:765212008|ICD10:H51.8|Orphanet:363746|UMLS:C0270706 Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. owl:Class MONDO:0008946 biolink:NamedThing cerebral angiopathy, dysphoric tmpak2llvmy_mondo_relaxed.owl cerebral angiopathy, dysphoric MESH:C565864|OMIM:213500|UMLS:C1859283 owl:Class MONDO:0012948 biolink:NamedThing chromosome 6pter-p24 deletion syndrome Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl 6p subtelomeric deletion syndrome|distal monosomy 6p|6p25 microdeletion syndrome|distal monosomy type 6p|distal deletion 6p|chromosome 6pter-p24 deletion syndrome|monosomy 6p25 DOID:0060422|ICD10:Q93.5|MESH:C567239|SCTID:718688008|UMLS:C4305276|UMLS:C2675486|OMIM:612582|Orphanet:96125 owl:Class MONDO:0100379 biolink:NamedThing acute myeloid leukemia, t(1;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(1;11)(q21;q23) owl:Class CHEBI:33853 biolink:NamedThing phenols Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. tmpak2llvmy_mondo_relaxed.owl arenols|phenols|a phenol|Aryl alcohol owl:Class GO:1903318 biolink:NamedThing negative regulation of protein maturation Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation. tmpak2llvmy_mondo_relaxed.owl down regulation of protein maturation|inhibition of protein maturation|downregulation of protein maturation|down-regulation of protein maturation owl:Class GO:0010629 biolink:NamedThing negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013504 biolink:NamedThing caudal vertebra pre-cartilage condensation A caudal vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl tail vertebral pre-cartilage condensation|coccygeal vertebra pre-cartilage condensation owl:Class UBERON:0011095 biolink:NamedThing vertebra pre-cartilage condensation The pre-cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral pre-cartilage condensation owl:Class MONDO:0006374 biolink:NamedThing placental choriocarcinoma Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. tmpak2llvmy_mondo_relaxed.owl placental choriocarcinoma|choriocarcinoma of placenta|placenta choriocarcinoma|choriocarcinoma of the placenta|placenta choriocarcinoma (disease) SCTID:448401007|EFO:1000479|UMLS:C0855173|NCIT:C8893|DOID:2024 owl:Class MONDO:0002178 biolink:NamedThing placenta cancer A malignant neoplasm involving the placenta. tmpak2llvmy_mondo_relaxed.owl placenta cancer|placental tumors|malignant placenta neoplasm|placental cancer|malignant tumor of the placenta|malignant placental tumor|cancer of placenta|malignant neoplasm of the placenta|primary malignant neoplasm of placenta|deciduoma, malignant|malignant neoplasm of placenta|malignant tumor of placenta|malignant placental neoplasm|malignant placenta tumor NCIT:C3555|UMLS:C0153572|ICD9:239.5|DOID:2021|ICD9:181|ICD10:C58|SCTID:126920004 owl:Class MONDO:0002999 biolink:NamedThing central nervous system germinoma A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl intracranial germinoma|germinoma of the central nervous system|central nervous system germinoma (disease)|germinoma of the CNS|central nervous system germinoma|germinoma of CNS|germinoma of central nervous system DOID:4438|NCIT:C7009 owl:Class MONDO:0012901 biolink:NamedThing inherited prekallikrein deficiency An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl congenital prekallikrein deficiency|prekallikrein deficiency, congenital|Fletcher Factor deficiency|hereditary prekallikrein deficiency|prekallikrein deficiency|PKK deficiency ICD10:D68.8|ICD9:286.9|MESH:C562725|Orphanet:749|OMIM:612423|GARD:0004477 https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital owl:Class MONDO:0044744 biolink:NamedThing prekallikrein deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. tmpak2llvmy_mondo_relaxed.owl prekallikrein deficiency SCTID:48976006|NCIT:C99022 owl:Class GO:1905039 biolink:NamedThing carboxylic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14004 biolink:NamedThing ANO3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003470 biolink:NamedThing artery of upper lip The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose. tmpak2llvmy_mondo_relaxed.owl superior labial artery|ramus labialis superior arteriae facialis|superior labial branch of facial artery|arteria labialis superior owl:Class UBERON:0004771 biolink:NamedThing posterior nasal aperture Opening/conduit between the nasal cavity and the nasopharynx[AAO] The choanae are separated by the vomer[WP]. tmpak2llvmy_mondo_relaxed.owl posterior naris|posterior nasal apperture|internal naris|choana|nasopharyngeal naris|choanae|posterior choana owl:Class UBERON:0036253 biolink:NamedThing orifice of skull tmpak2llvmy_mondo_relaxed.owl cranial orifice|skull orifice owl:Class HP:0012211 biolink:NamedThing Abnormal renal physiology An abnormal functionality of the kidney. tmpak2llvmy_mondo_relaxed.owl Kidney function issue|Abnormal kidney function|Renal functional abnormality|Abnormality of renal physiology|Abnormal renal function UMLS:C0151746|SNOMEDCT_US:39539005 peter 2013-03-14T07:43:34Z HP:0000087|HP:0005566|HP:0008646|HP:0000082 human_phenotype owl:Class HP:0011277 biolink:NamedThing Abnormality of the urinary system physiology tmpak2llvmy_mondo_relaxed.owl UMLS:C4023437 peter 2011-12-30T02:51:16Z human_phenotype owl:Class MONDO:0001944 biolink:NamedThing mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. tmpak2llvmy_mondo_relaxed.owl malaria by more than one parasite|malaria fever by more than one parasite UMLS:C0153121|SCTID:21070001|DOID:14325|ICD9:084.5 owl:Class MONDO:0014607 biolink:NamedThing developmental and epileptic encephalopathy, 32 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 32|epileptic encephalopathy, early infantile, 32|EIEE32|early infantile epileptic encephalopathy caused by mutation in KCNA2|DEE32|KCNA2 early infantile epileptic encephalopathy UMLS:C4225350|OMIM:616366|DOID:0080416 owl:Class MONDO:0032662 biolink:NamedThing intellectual developmental disorder, autosomal recessive 67 tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67|Mental Retardation, Autosomal Recessive 67|MRT67 OMIM:618295 owl:Class MONDO:0005590 biolink:NamedThing breast ductal adenocarcinoma A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. tmpak2llvmy_mondo_relaxed.owl ductal adenocarcinoma|duct carcinoma|ductal breast adenocarcinoma|duct adenocarcinoma|ductal carcinoma|ductal carcinoma of the breast|mammary duct adenocarcinoma|ductal carcinoma of breast|ductal breast carcinoma|breast ductal carcinoma MESH:D018270|EFO:0006318|DOID:3007|NCIT:C4017 owl:Class MONDO:0016684 biolink:NamedThing anaplastic astrocytoma Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. tmpak2llvmy_mondo_relaxed.owl grade III astrocytic tumor|malignant astrocytoma|grade III astrocytoma|astrocytoma, anaplastic, malignant|anaplastic astrocytoma|grade III astrocytic neoplasm EFO:0002499|GARD:0005860|ONCOTREE:AASTR|DOID:3078|UMLS:C0334579|ICDO:9401/3|NCIT:C9477|MedDRA:10002224|MedDRA:10060971|Orphanet:251589|ICD10:C71.9 owl:Class MONDO:0012643 biolink:NamedThing hereditary spastic paraplegia 32 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. tmpak2llvmy_mondo_relaxed.owl SPG32|spastic paraplegia 32|autosomal recessive spastic paraplegia type 32|spastic paraplegia 32, autosomal recessive|autosomal recessive spastic paraplegia 32|hereditary spastic paraplegia type 32 GARD:0012749|OMIM:611252|Orphanet:171622|UMLS:C4511958|MESH:C566983|UMLS:C1970009|DOID:0110783|ICD10:G11.4|SCTID:726606003 owl:Class MONDO:0004004 biolink:NamedThing motor nerve neuritis Inflammation of the peripheral motor nerves. tmpak2llvmy_mondo_relaxed.owl motor neuritis UMLS:C0235025|DOID:683 owl:Class MONDO:0015528 biolink:NamedThing congenital epulis A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. tmpak2llvmy_mondo_relaxed.owl congenital Epulides|congenital granular cell tumor|Neumann tumor|gingival granular cell tumor|congenital epulis|congenital gingival cell tumor SCTID:360525006|NCIT:C4675|DOID:7280|Orphanet:157826|MESH:D005887|UMLS:C0376319 owl:Class MONDO:0019155 biolink:NamedThing Leydig cell hypoplasia Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. tmpak2llvmy_mondo_relaxed.owl 46,XY disorder of sex development due to LH resistance or LHB deficiency|Leydig cell agenesis|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|LH resistance due to LH receptor deactivation|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY disorder of sex development due to LH defects|46,XY DSD due to LH resistance or LHB deficiency|Male hypergonadotropic hypogonadism due to LHCGR defect MedDRA:10024406|ICD10:Q56.1|Orphanet:755|GARD:0003244 owl:Class HGNC:7762 biolink:NamedThing NEUROD1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011977 biolink:NamedThing epiphysis of proximal phalanx of manus An epiphysis that is part of a proximal phalanx of manus. tmpak2llvmy_mondo_relaxed.owl epiphysis of proximal phalanx of finger owl:Class MONDO:0012149 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 1|attention Deficit-hyperactivity disorder, susceptibility to, type 1|Adhd1 OMIM:608903 owl:Class GO:0016462 biolink:NamedThing pyrophosphatase activity Catalysis of the hydrolysis of a pyrophosphate bond between two phosphate groups, leaving one phosphate on each of the two fragments. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016818 biolink:NamedThing hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides Catalysis of the hydrolysis of any acid anhydride which contains phosphorus. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0410042 biolink:NamedThing Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. tmpak2llvmy_mondo_relaxed.owl 2017-09-20 00:22:53+00:00 Fyler:4447 ORCID:0000-0001-5208-3432 human_phenotype owl:Class HP:0001392 biolink:NamedThing Abnormality of the liver An abnormality of the liver. tmpak2llvmy_mondo_relaxed.owl Liver abnormality|Abnormal liver|Liver disease|Abnormality of the liver SNOMEDCT_US:235856003|MSH:D008107|UMLS:C0023895|UMLS:C4021780 human_phenotype owl:Class MONDO:8000013 biolink:NamedThing portal hypertension, noncirrhotic, 1 tmpak2llvmy_mondo_relaxed.owl NCPH|portal hypertension, noncirrhotic; NCPH|portal hypertension, noncirrhotic OMIM:617068|UMLS:C4310735 owl:Class MONDO:0024193 biolink:NamedThing portal hypertension, noncirrhotic tmpak2llvmy_mondo_relaxed.owl OMIMPS:617068 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7095 biolink:NamedThing MID1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011903 biolink:NamedThing Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. tmpak2llvmy_mondo_relaxed.owl CMT2J|Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot Marie Tooth disease type 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth neuropathy type 2J|Charcot-Marie-Tooth neuropathy, type 2J|CMT 2J|Charcot-Marie-Tooth disease, axonal, type 2J SCTID:717014003|GARD:0009198|MESH:C535417|Orphanet:99943|DOID:0110157|OMIM:607736|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j owl:Class MONDO:0011909 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate D Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. tmpak2llvmy_mondo_relaxed.owl CMTDID|MPZ Charcot-Marie-Tooth disease|Di-Cmtd|DI-CMTD|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth neuropathy dominant intermediate D|Charcot Marie Tooth disease dominant intermediate 3|Charcot-Marie-Tooth disease, dominant intermediate D|Charcot-Marie-Tooth neuropathy, dominant Intermediate D|Charcot-Marie-Tooth disease caused by mutation in MPZ|Charcot-Marie-Tooth disease dominant intermediate type D|Charcot-Marie-Tooth disease, dominant Intermediate type D OMIM:607791|MESH:C564333|ICD10:G60.0|SCTID:765747004|Orphanet:100046|UMLS:C1843075|DOID:0110200|GARD:0009207 owl:Class GO:1901616 biolink:NamedThing organic hydroxy compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound. tmpak2llvmy_mondo_relaxed.owl organic hydroxy compound catabolism|organic hydroxy compound degradation|organic hydroxy compound breakdown owl:Class MONDO:0035136 biolink:NamedThing isolated melanotic schwannoma tmpak2llvmy_mondo_relaxed.owl Orphanet:590539 owl:Class MONDO:0012642 biolink:NamedThing major affective disorder 4 tmpak2llvmy_mondo_relaxed.owl MAFD4|bipolar affective disorder|major affective disorder 4|MAJOR affective disorder 4 MESH:C567073|OMIM:611247 owl:Class MONDO:0013759 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 8 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, type 8|CMM8|melanoma and renal cell carcinoma, susceptibility to|susceptibility to cutaneous malignant melanoma 8|melanoma, cutaneous malignant, susceptibility to, 8|MITF-related melanoma and renal cell carcinoma predisposition syndrome Orphanet:293822|OMIM:614456 owl:Class MONDO:0600023 biolink:NamedThing idiopathic inflammatory myopathy Idiopathic form of inflammatory myopathy. tmpak2llvmy_mondo_relaxed.owl idiopathic myositis http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0003709 biolink:NamedThing agoraphobia An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. tmpak2llvmy_mondo_relaxed.owl fear of open spaces|fear of open spaces (finding) DOID:593|ICD10:F40.0|ICD10:F40.00|MESH:D000379|SCTID:70691001|NCIT:C34362|EFO:1001872 owl:Class MONDO:0032570 biolink:NamedThing Joubert syndrome 35 tmpak2llvmy_mondo_relaxed.owl JOUBERT SYNDROME 35|JBTS35 OMIM:618161 owl:Class MONDO:0024312 biolink:NamedThing cancer of short bone of upper limb tmpak2llvmy_mondo_relaxed.owl ICD10:C40.1 owl:Class MONDO:0008297 biolink:NamedThing variegate porphyria Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. tmpak2llvmy_mondo_relaxed.owl protoporphyrinogen oxidase deficiency|porphyria variegata|VP|variegate porphyria, homozygous variant|PPOX deficiency|porphyria, South African type|Protocoproporphyria|variegate porphyria|porphyria variegate ICD10:E80.2|Orphanet:79473|MESH:D046350|SCTID:58275005|DOID:4346|NCIT:C85219|GARD:0007848|OMIM:176200|UMLS:C0162532 https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria owl:Class HGNC:7960 biolink:NamedThing NR0B1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6545 biolink:NamedThing COG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006422 biolink:NamedThing small intestinal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl NCIT:C43553|EFO:1000539|UMLS:C1710113 owl:Class MONDO:0003637 biolink:NamedThing clear cell-sugar-tumor of the lung A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. tmpak2llvmy_mondo_relaxed.owl Sugar tumor|CCSTL|lung clear cell-sugar-tumor|lung clear cell tumor|clear cell-Sugar-tumor of the lung|clear cell-Sugar-tumor of lung UMLS:C1333065|NCIT:C38152|DOID:5763 owl:Class MONDO:0020588 biolink:NamedThing lung PEComa A lung tumor that arises from perivascular epithelioid cells (PECs). tmpak2llvmy_mondo_relaxed.owl lung PEComa|lung pecomatous tumor NCIT:C142783 owl:Class CHEBI:35358 biolink:NamedThing sulfonamide An amide of a sulfonic acid RS(=O)2NR'2. tmpak2llvmy_mondo_relaxed.owl sulfonamides owl:Class HGNC:17412 biolink:NamedThing CLCF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019938 biolink:NamedThing anorectal malformation tmpak2llvmy_mondo_relaxed.owl SCTID:33225004|MESH:C537771|ICD9:751.5|Orphanet:96346 owl:Class MONDO:0001319 biolink:NamedThing bladder lateral wall cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lateral wall of urinary bladder ICD10:C67.2|DOID:11593|SCTID:188241004|UMLS:C0496828|ICD9:188.2 Lateral Wall of bladder owl:Class HGNC:12910 biolink:NamedThing MKRN3-AS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002335 biolink:NamedThing mature B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. tmpak2llvmy_mondo_relaxed.owl mature B-cell differentiation|mature cell development|mature B lymphocyte differentiation|mature B-lymphocyte differentiation owl:Class NCBITaxon:2560076 biolink:NamedThing Orthoparamyxovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2084 biolink:NamedThing CLPP tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000818 biolink:NamedThing cryosphere A cryosphere is that part of a planet which is primarily composed of water is in solid form. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000131 biolink:NamedThing glacial feature A hydrographic feature characterized by the dominance of snow or ice. tmpak2llvmy_mondo_relaxed.owl glacer|glacier feature|LandIce|Ice|glacial landform owl:Class CHEBI:73690 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class. tmpak2llvmy_mondo_relaxed.owl erythrose 4-phosphate and phosphoenolpyruvate family amino acid|erythrose 4-phosphate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|phosphoenolpyruvate family amino acids|erythrose 4-phosphate family amino acid|phosphoenolpyruvate family amino acid|erythrose 4-phosphate/phosphoenolpyruvate family amino acids owl:Class UBERON:0001343 biolink:NamedThing seminiferous tubule of testis The tubules in the testes where spermatogenesis occurs. tmpak2llvmy_mondo_relaxed.owl tubuli seminiferi|testis - seminiferous tubule|seminiferous cord|seminiferous tubule owl:Class MONDO:0010185 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblD A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. tmpak2llvmy_mondo_relaxed.owl methylmalonic acidemia with homocystinuria, type cblD|methylmalonic acidemia, Cblh type|methylmalonic aciduria and homocystinuria type cblD|methylmalonic aciduria with homocystinuria, type cblD|methylmalonic aciduria, cblD type, variant 2|methylmalonic acidemia with homocystinuria type cblD|cobalamin D defect|cblD defect|methylmalonic aciduria and homocystinuria, cblD type|m0e.321 cobalamin locus d variant|methylmalonic aciduria, Cblh type|cobalamin d disease|methylmalonic acidemia and homocystinuria, cblD type|MAHCD|methylmalonic acidemia, Cblh type, formerly|methylmalonic aciduria, Cblh type, formerly|methylmalonic aciduria, cblD type, variant 2, included|homocystinuria, cblD type, variant 1, included|cblD methylmalonic acidemia and homocystinuria|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|homocystinuria, cblD type, variant 1|cblD - cobalamin locus d|cobalamin D deficiency|Mehtylmalonic acidemia with homocystinuria cbI d ICD10:E72.1|DOID:0050716|MESH:C564743|UMLS:CN205879|GARD:0003582|SCTID:31220004|Orphanet:79283|OMIM:277410 owl:Class HGNC:10891 biolink:NamedThing SIX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018274 biolink:NamedThing GM3 synthase deficiency GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. tmpak2llvmy_mondo_relaxed.owl ST3GAL5-CDG|SPDRS|epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|lactosylceramide alpha-2,3-sialyltransferase activity disease|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt-and-pepper syndrome|salt and pepper mental retardation syndrome|salt and pepper developmental regression syndrome|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|salt & pepper syndrome|GM3 synthase deficiency|Amish infantile epilepsy syndrome Orphanet:370933|SCTID:722762005|Orphanet:171714|GARD:0012059|Orphanet:370938|ICD10:E77.8|UMLS:CN204860|UMLS:C1836824|DOID:0060470|OMIM:609056 owl:Class GO:0010948 biolink:NamedThing negative regulation of cell cycle process Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005967 biolink:NamedThing mitochondrial pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class MONDO:0010203 biolink:NamedThing intellectual disability, Wolff type Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. tmpak2llvmy_mondo_relaxed.owl Wolff-Zimmermann syndrome|WOLFF mental retardation syndrome|WOLFF intellectual disability syndrome Orphanet:3080|OMIM:277990|ICD10:Q87.0|MESH:C537448|UMLS:C1848439 owl:Class MONDO:0016325 biolink:NamedThing glycogen storage disease with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl GSD with hypertrophic cardiomyopathy|glycogenosis with hypertrophic cardiomyopathy 2022-03-01 UMLS:CN201158|ICD10:E74.0|Orphanet:217572 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class UBERON:0010062 biolink:NamedThing pharyngotympanic tube epithelium tmpak2llvmy_mondo_relaxed.owl eustachian tube epithelium|auditory tube epithelium owl:Class MONDO:0017621 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch and lactose intolerance tmpak2llvmy_mondo_relaxed.owl disaccharide intolerance with starch and lactose intolerance|congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|CSID with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance Orphanet:306474|ICD10:E74.3 owl:Class ENVO:03600001 biolink:NamedThing chemically contaminated sediment Sediment which contains some chemical contaminant. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003038 biolink:NamedThing thoracic spinal cord The thoracic nerves are the spinal nerves emerging from the thoracic vertebrae. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl thoracic segment of spinal cord|pars thoracica medullae spinalis|thoracic spinal cord|segmenta thoracica medullae spinalis [1-12]|thoracic region of spinal cord|thoracic segments of spinal cord [1-12] owl:Class UBERON:0005844 biolink:NamedThing spinal cord segment tmpak2llvmy_mondo_relaxed.owl segment of spinal cord|axial part of spinal cord|spinal neuromeres|axial regional part of spinal cord owl:Class GO:0004749 biolink:NamedThing ribose phosphate diphosphokinase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). tmpak2llvmy_mondo_relaxed.owl phosphoribosyl-diphosphate synthetase activity|phosphoribosylpyrophosphate synthetase activity|PPRibP synthetase activity|ribose-5-phosphate pyrophosphokinase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|pyrophosphoribosylphosphate synthetase activity|PP-ribose P synthetase activity|ATP:D-ribose-5-phosphate diphosphotransferase activity|PRPP synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|phosphoribosylpyrophosphate synthase activity|ribose-phosphate diphosphokinase activity|phosphoribosyl diphosphate synthetase activity|ribophosphate pyrophosphokinase activity|ribose-phosphate pyrophosphokinase activity|phosphoribosyl pyrophosphate synthetase activity|5-phosphoribose pyrophosphorylase activity owl:Class MONDO:0017212 biolink:NamedThing paraneoplastic uveitis tmpak2llvmy_mondo_relaxed.owl Orphanet:279928 owl:Class MONDO:0021073 biolink:NamedThing paraneoplastic syndrome A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. tmpak2llvmy_mondo_relaxed.owl paraneoplastic syndrome NCIT:C3311|MESH:D010257|UMLS:C0030472|SCTID:49783001 owl:Class MONDO:0003532 biolink:NamedThing breast papillary carcinoma A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells. tmpak2llvmy_mondo_relaxed.owl breast papillary carcinoma|papillary carcinoma of the breast|papillary carcinoma of breast|solid papillary carcinoma of the breast|Papillary breast cancer|breast solid papillary carcinoma|papillary breast carcinoma NCIT:C9134|DOID:5592|UMLS:C3812899|UMLS:C1336027 owl:Class HP:0002815 biolink:NamedThing Abnormality of the knee An abnormality of the knee joint or surrounding structures. tmpak2llvmy_mondo_relaxed.owl Abnormality of the knee UMLS:C4025676 human_phenotype owl:Class HP:0100491 biolink:NamedThing Abnormality of lower limb joint tmpak2llvmy_mondo_relaxed.owl Abnormality of the joints of the lower limbs|Abnormality of lower limb joint UMLS:C4020971 doelkens 2010-12-14T10:58:11Z HP:0100239 human_phenotype owl:Class GO:0006767 biolink:NamedThing water-soluble vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. tmpak2llvmy_mondo_relaxed.owl water-soluble vitamin metabolism owl:Class CL:0000990 biolink:NamedThing conventional dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. tmpak2llvmy_mondo_relaxed.owl cDC|veiled cell|DC1|dendritic reticular cell|interdigitating cell|type 1 DC FMA:84191 Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. cell owl:Class HsapDv:0000103 biolink:NamedThing 9-year-old human stage Child stage that refers to a child who is over 9 and under 10 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:135624 biolink:NamedThing Aeromonadales tmpak2llvmy_mondo_relaxed.owl Aeromonadaceae/Succinivibrionaceae group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009106 biolink:NamedThing diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. tmpak2llvmy_mondo_relaxed.owl Dimyelia|diastematomyelia|split spinal cord malformation|split cord malformation type 1|SSCM|SCM type 1|split cord malformation|diplomyelia|Pseudodiplomyelia ICD9:742.51|SCTID:49351009|Orphanet:1671|UMLS:C0011999|ICD10:Q06.2|NCIT:C98913|MedDRA:10012750|GARD:0001851|OMIM:222500 owl:Class GO:0004875 biolink:NamedThing complement receptor activity Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl anaphylatoxin receptor activity owl:Class GO:0004888 biolink:NamedThing transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. tmpak2llvmy_mondo_relaxed.owl transmembrane signalling receptor activity|transmembrane receptor activity owl:Class MONDO:0037736 biolink:NamedThing infratentorial neoplasm A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. tmpak2llvmy_mondo_relaxed.owl infratentorial neoplasms|infratentorial tumors|infratentorial tumor|neoplasms, infratentorial|infratentorial neoplasm|brain neoplasms, infratentorial NCIT:C3139 owl:Class UBERON:5102389 biolink:NamedThing manual digit digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl manual digit|manual digit skeleton owl:Class MONDO:0003348 biolink:NamedThing conventional leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. tmpak2llvmy_mondo_relaxed.owl conventional leiomyosarcoma|classic leiomyosarcoma NCIT:C9428|UMLS:C1333157|DOID:5253 owl:Class MONDO:0100032 biolink:NamedThing familial temporal lobe epilepsy syndrome This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 01:48:38+00:00 owl:Class MONDO:0007267 biolink:NamedThing hypertrophic cardiomyopathy 3 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy type 3|cardiomyopathy, familial hypertrophic, 3|hypertrophic cardiomyopathy 3|cardiomyopathy, familial hypertrophic, type 3|cardiomyopathy familial hypertrophic 3|TPM1 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in TPM1|CMH3 DOID:0110309|MESH:C566170|OMIM:115196|UMLS:C1861863 owl:Class MONDO:0018534 biolink:NamedThing squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of liver and IBT ICD10:C22.1|Orphanet:424975|UMLS:CN242131|ICD10:C22.0 owl:Class MONDO:0008754 biolink:NamedThing alopecia - contractures - dwarfism - intellectual disability syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. tmpak2llvmy_mondo_relaxed.owl ACD mental retardation syndrome|ACD intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|ACD-intellectual disability syndrome|alopecia-contractures-dwarfism intellectual disability syndrome MESH:C537051|Orphanet:1005|UMLS:C0795895|ICD10:Q87.8|GARD:0000605|OMIM:203550 https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome owl:Class MONDO:0012518 biolink:NamedThing congenital myasthenic syndrome 12 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, with tubular aggregates 1|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|CMS12|myasthenic syndrome, congenital, 12|myasthenic syndrome, congenital, type 12|congenital myasthenic syndrome type 12|congenital myasthenia 12 with tubular aggregates|GFPT1 congenital myasthenic syndromes with glycosylation defect OMIM:610542|DOID:0110660 owl:Class CL:0000186 biolink:NamedThing myofibroblast cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. tmpak2llvmy_mondo_relaxed.owl MFB Myofibroblasts are alpha-SMA-positive, CD34-negative, CD45-negative. They are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha. cell owl:Class MONDO:0021879 biolink:NamedThing small cell variant anaplastic large cell lymphoma A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei. tmpak2llvmy_mondo_relaxed.owl anaplastic small cell lymphoma|small cell variant of anaplastic large cell lymphoma|small cell variant anaplastic large cell lymphoma UMLS:C1335983|MESH:C538255|NCIT:C7208|GARD:0009477 https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma owl:Class UBERON:0003395 biolink:NamedThing mesentery of rectum A mesentery that is part of a rectum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rectum mesentery owl:Class UBERON:0004854 biolink:NamedThing gastrointestinal system mesentery A mesentery that is part of a digestive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesentery of gastrointestinal system|mesentery of digestive system|digestive system mesentery owl:Class MONDO:0012319 biolink:NamedThing major affective disorder 3 tmpak2llvmy_mondo_relaxed.owl bipolar affective disorder, early-onset|MAFD3|major affective disorder 3|MAJOR affective disorder 3 UMLS:C1864994|MESH:C566501|OMIM:609633 owl:Class MONDO:0000332 biolink:NamedThing sennetsu fever An ehlrichiosis caused by Neorickettsia sennetsu. tmpak2llvmy_mondo_relaxed.owl Neorickettsia sennetsu caused disease or disorder|Neorickettsia sennetsu disease or disorder|Neorickettsia sennetsu infectious disease|sennetsu fever|Human Ehrlichial infection, sennetsu type|sennetsu ehrlichiosis DOID:0050485|SCTID:21013006|MESH:C537582|GARD:0000120|UMLS:C0520779|ICD9:088.89 https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever owl:Class UBERON:0011139 biolink:NamedThing synovial limb joint Any synovial joint that is part of a (free) limb. tmpak2llvmy_mondo_relaxed.owl synovial joint of free limb segment owl:Class MONDO:0005898 biolink:NamedThing paronychia An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. tmpak2llvmy_mondo_relaxed.owl onychia and paronychia of toe|fungal nail infection|paronychia|paronychia (disease)|paronychia inflammation|infected nailfold|onychia and paronychia of finger paronychia (disease) DOID:13117|ICD9:681.9|UMLS:C0030578|EFO:0007421|NCIT:C79702|ICD10:L03.0|HP:0001818|MESH:D010304|SCTID:71906005 owl:Class GO:0010962 biolink:NamedThing regulation of glucan biosynthetic process Any process that modulates the rate, frequency, or extent of glucan biosynthesis. Glucan biosynthetic processes are the chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002460 biolink:NamedThing lacrimal system cancer A cancer that involves the lacrimal apparatus. tmpak2llvmy_mondo_relaxed.owl neoplasm of the lacrimal system|malignant neoplasm of lacrimal apparatus|neoplasm of lacrimal system|malignant lacrimal apparatus neoplasm|tumor of the lacrimal system|lacrimal apparatus cancer|lacrimal system neoplasms|lacrimal system tumor|lacrimal system neoplasm|tumor of lacrimal system|cancer of lacrimal apparatus DOID:292|SCTID:416510003|UMLS:C1334361|NCIT:C5102 owl:Class MONDO:0060729 biolink:NamedThing protoporphyria, erythropoietic, 2 tmpak2llvmy_mondo_relaxed.owl EPP2|protoporphyria, erythropoietic, 2 OMIM:618015|UMLS:CN248523 owl:Class MONDO:0000953 biolink:NamedThing cancer of short bone of lower limb tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of short bone of lower limb|malignant neoplasm of short bones of leg UMLS:C0153518|DOID:10151|SCTID:712525007|ICD10:C40.3|ICD9:170.8 owl:Class GO:0045599 biolink:NamedThing negative regulation of fat cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. tmpak2llvmy_mondo_relaxed.owl down-regulation of fat cell differentiation|negative regulation of adipocyte cell differentiation|downregulation of fat cell differentiation|down regulation of fat cell differentiation|negative regulation of adipocyte differentiation|inhibition of fat cell differentiation owl:Class MONDO:0021378 biolink:NamedThing neoplasm of endocardium A neoplasm (disease) that involves the endocardium. tmpak2llvmy_mondo_relaxed.owl endocardium neoplasm|endocardial neoplasm|endocardium neoplasm (disease)|tumor of the endocardium|endocardial tumor|tumor of endocardium|endocardium tumor|neoplasm of the endocardium|neoplasm of endocardium UMLS:C1290401|NCIT:C5346|SCTID:126731002|ICD9:239.89 owl:Class UBERON:0002042 biolink:NamedThing lymphatic vessel endothelium An endothelium that is part of a lymphatic vessel [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel endothelium|lymph vessel endothelium|endothelium of lymph vessel|endothelium of lymphatic vessel|lymphatic endothelium owl:Class MONDO:0020001 biolink:NamedThing respiratory or thoracic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:97957 owl:Class MONDO:0021224 biolink:NamedThing iris neoplasm A neoplasm (disease) that involves the iris. tmpak2llvmy_mondo_relaxed.owl iris tumor|tumor of iris|tumor of the iris|iris neoplasm (disease)|neoplasm of the iris|neoplasm of iris NCIT:C3142|UMLS:C0022079 owl:Class HGNC:8604 biolink:NamedThing PAPSS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001344 biolink:NamedThing epithelium of vagina The epithelial layer of the vagina. tmpak2llvmy_mondo_relaxed.owl vagina epithelial tissue|vaginal epithelium|epithelial tissue of vagina|epithelium, vaginal|vagina epithelium owl:Class CL:1000493 biolink:NamedThing mesothelial cell of visceral pleura A mesothelial cell that is part of the visceral pleura. tmpak2llvmy_mondo_relaxed.owl FMA:86739 cell owl:Class MONDO:0020380 biolink:NamedThing autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. tmpak2llvmy_mondo_relaxed.owl ADCA|autosomal dominant spinocerebellar ataxia|cerebellar ataxia, autosomal dominant|spinocerebellar ataxia|Pierre Marie cerebellar ataxia (formerly)|SCA ICD10:G11.8|ICD9:334.3|OMIMPS:164400|UMLS:CN227858|GARD:0004346|Orphanet:99|DOID:1441|SCTID:129609000 owl:Class HP:0005293 biolink:NamedThing Venous insufficiency tmpak2llvmy_mondo_relaxed.owl Poorly functioning veins SNOMEDCT_US:20696009|MSH:D014689|UMLS:C0042485 human_phenotype owl:Class OBO:CHR_9606-chr14q32 biolink:NamedThing chr14q32 (Human) tmpak2llvmy_mondo_relaxed.owl 107043718 89300000 hg38 owl:Class MONDO:0018382 biolink:NamedThing epiphysiolysis of the hip Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). tmpak2llvmy_mondo_relaxed.owl SCFE|femoral head epiphysiolysis|slipped upper femoral epiphysis|epiphysiolysis of the upper femur|SufE|slipped capital femoral epiphysis EFO:1001317|Orphanet:399329|ICD10:M93.9|SCTID:26460006 owl:Class HGNC:26031 biolink:NamedThing PIGV tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010307 biolink:NamedThing intellectual disability, X-linked 73 tmpak2llvmy_mondo_relaxed.owl MRX73|intellectual disability, X-linked 73|mental retardation, X-linked 73 MESH:C564528|UMLS:C1845860|OMIM:300355 owl:Class MONDO:0020334 biolink:NamedThing mast cell leukemia Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. tmpak2llvmy_mondo_relaxed.owl mast-cell leukemia|Mast cell leukemia|aleukemic mast cell leukemia|SMMCL MESH:D007946|UMLS:C0023461|ICD10:C94.30|ICD10:C94.3|MedDRA:10056450|ONCOTREE:SMMCL|ICDO:9742/3|EFO:0007359|SCTID:110002002|NCIT:C3169|Orphanet:158799|Orphanet:98851|DOID:9254 owl:Class MONDO:0012864 biolink:NamedThing chromosome 2q32-q33 deletion syndrome 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. tmpak2llvmy_mondo_relaxed.owl monosomy 2q32-q33|2q32q33 microdeletion syndromes|chromosome 2q32-q33 deletion syndrome|glass syndrome|2q32q33 microdeletion syndrome|monosomy 2q32|SATB2-associated syndrome|SAS|Del(2)(q32)|glass|monosomy 2q32q33|2q32-q33 microdeletion syndrome|SATB2 syndrome|Del(2)(q32q33) UMLS:C4304531|UMLS:C2676739|MESH:C567350|GARD:0013206|DOID:0060428|ICD10:Q93.5|SCTID:719659003|Orphanet:251019|OMIM:612313 owl:Class UBERON:0007425 biolink:NamedThing decussation of diencephalon A neural decussation that is part of a diencephalon. tmpak2llvmy_mondo_relaxed.owl diencephalon decussation owl:Class MONDO:0002833 biolink:NamedThing fallopian tube transitional cell carcinoma A rare transitional cell carcinoma that arises from the fallopian tube. tmpak2llvmy_mondo_relaxed.owl fallopian tube transitional cell cancer|fallopian tube transitional cell carcinoma NCIT:C40104|DOID:4008|UMLS:C1517128 owl:Class UBERON:0004493 biolink:NamedThing cardiac muscle tissue of myocardium A portion of cardiac muscle tissue that is part of a myocardium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012196 biolink:NamedThing autosomal dominant auditory neuropathy 1 Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant auditory neuropathy type 1|auditory neuropathy, autosomal dominant, type 1|DIAPH3 auditory neuropathy|auditory neuropathy, autosomal dominant, 1|nonsyndromic dominant auditory neuropathy|AUNA1|NSDAN|auditory neuropathy, nonsyndromic dominant|auditory neuropathy caused by mutation in DIAPH3 ICD10:H90.3|OMIM:609129|DOID:0060690|UMLS:C1836743|MESH:C563790 owl:Class MONDO:0021944 biolink:NamedThing auditory neuropathy A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. tmpak2llvmy_mondo_relaxed.owl familial auditory neuropathy|progressive auditory neuropathy|ANSD|auditory dys-synchrony|auditory neuropathy spectrum disorder|auditory neuropathy UMLS:C1852271|UMLS:C2732267|GARD:0009274|NCIT:C116364|OMIMPS:609129|SCTID:443805006|MESH:C538268 Editor note: OMIMPS seems to refer to a more restricted concept https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy owl:Class MONDO:0013466 biolink:NamedThing orofacial cleft 13 tmpak2llvmy_mondo_relaxed.owl orofacial cleft 13|OFC13 UMLS:C3151222|OMIM:613857|DOID:0080406 owl:Class HGNC:21050 biolink:NamedThing CDKAL1 tmpak2llvmy_mondo_relaxed.owl owl:Class PCO:0000029 biolink:NamedThing multi-species collection of organisms A collection of organisms that consists of two or more organisms from at least two species. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002549 biolink:NamedThing schwannoma of twelfth cranial nerve A schwannoma that involves the hypoglossal nerve. tmpak2llvmy_mondo_relaxed.owl neurilemmoma of hypoglossal nerve|hypoglossal nerve schwannoma|neurilemmoma of the twelfth cranial nerve|neurilemmoma of the hypoglossal nerve|neurilemmoma of twelfth cranial nerve|schwannoma of the hypoglossal nerve|schwannoma of the twelfth cranial nerve|schwannoma of twelfth cranial nerve|hypoglossal neurilemmoma|schwannoma of hypoglossal nerve|hypoglossal schwannoma|twelfth cranial nerve neurilemmoma|twelfth cranial nerve schwannoma|hypoglossal nerve neurilemmoma UMLS:C1335928|DOID:3197|NCIT:C5434 owl:Class MONDO:0002550 biolink:NamedThing hypoglossal nerve neoplasm A neoplasm involving a hypoglossal nerve. tmpak2llvmy_mondo_relaxed.owl hypoglossal nerve neoplasm|hypoglossal nerve tumor|hypoglossal nerve neoplasms|twelfth cranial nerve tumor|XIIth cranial nerve tumors|neoplasm of twelfth cranial nerve|tumor of the hypoglossal nerve|twelfth cranial nerve neoplasms|neoplasm of the twelfth cranial nerve|twelfth cranial nerve neoplasm|tumor of twelfth cranial nerve|tumor of hypoglossal nerve|hypoglossal nerve neoplasm (disease)|neoplasm of hypoglossal nerve|tumor of the twelfth cranial nerve|neoplasm of the hypoglossal nerve|hypoglossal nerve tumors|twelfth cranial nerve tumors|XIIth cranial nerve neoplasms ICD9:239.7|SCTID:126978008|DOID:3198|UMLS:C1263903|NCIT:C5830 owl:Class MONDO:0012965 biolink:NamedThing seizures, benign familial infantile, 4 tmpak2llvmy_mondo_relaxed.owl seizures, benign familial infantile, 4|BFIS4|convulsions, benign familial infantile, 4 MESH:C567231|OMIM:612627|UMLS:C2675462 owl:Class MONDO:0022357 biolink:NamedThing congenital acardia tmpak2llvmy_mondo_relaxed.owl congenital absence of the heart|acardia GARD:0009823|SCTID:205834002|ICD9:759.89 Editor note: axiomatize using HPO; check parent class MONDO:0002254 https://rarediseases.info.nih.gov/diseases/9823/acardia owl:Class MONDO:0017285 biolink:NamedThing penoscrotal transposition Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). tmpak2llvmy_mondo_relaxed.owl Prepenile scrotum|congenital transposition of the penis|penoscrotal transposition|penoscrotal transposition (disease)|congenital penoscrotal transposition penoscrotal transposition (disease) MESH:C536650|MedDRA:10067287|Orphanet:2842|HP:0100600|UMLS:C1868854|SCTID:312005008|NCIT:C99010|ICD10:Q55.8|GARD:0004273 owl:Class HP:0004841 biolink:NamedThing Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. tmpak2llvmy_mondo_relaxed.owl Hageman factor deficiency|Factor XII deficiency MSH:D005175|SNOMEDCT_US:46981006|UMLS:C0015526 HP:0005514|HP:0005551|HP:0008286 human_phenotype owl:Class HGNC:7329 biolink:NamedThing MSH6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019035 biolink:NamedThing pancreatoblastoma Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. tmpak2llvmy_mondo_relaxed.owl PB|pancreatoblastoma (morphologic abnormality) NCIT:C4265|ICD10:C25.1|Orphanet:677|EFO:1000446|MESH:C537162|ONCOTREE:PB|UMLS:C0334489|GARD:0004210|DOID:6823 https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma owl:Class MONDO:0018373 biolink:NamedThing avascular necrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. tmpak2llvmy_mondo_relaxed.owl AVN|avascular necrosis of bone Orphanet:399164|ICD10:M87.2|ICD10:M87.1|SCTID:397758007|ICD10:M87.0|ICD10:M87.3|NCIT:C34841|ICD10:M87.8|ICD10:M87.9 owl:Class HP:0000090 biolink:NamedThing Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. tmpak2llvmy_mondo_relaxed.owl juvenile nephronophthisis UMLS:C0687120|SNOMEDCT_US:204958008 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. HP:0004748 human_phenotype owl:Class HP:0100957 biolink:NamedThing Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. tmpak2llvmy_mondo_relaxed.owl Abnormality of the renal medulla UMLS:C4021911 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. doelkens 2011-12-12T10:02:15Z HP:0005582 human_phenotype owl:Class MONDO:0015746 biolink:NamedThing male infertility due to globozoospermia Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. tmpak2llvmy_mondo_relaxed.owl male infertility due to globozoospermia|globozoospermia|round-headed sperm syndrome|Male infertility due to round-headed spermatozoa|male infertility due to round-headed spermatozoa GARD:0012502|ICD10:N46|Orphanet:171709|DOID:0111156 owl:Class MONDO:0008882 biolink:NamedThing congenital bowing of long bones Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. tmpak2llvmy_mondo_relaxed.owl bowing of long bones congenital|bowing of long bones, asymmetric and symmetric MedDRA:10054064|ICD10:Q68.8|SCTID:716098006|OMIM:211355|ICD10:Q68.4|ICD10:Q68.3|ICD10:Q68.5|GARD:0000953|Orphanet:2292 https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital owl:Class MONDO:0016240 biolink:NamedThing hemimelia Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity. tmpak2llvmy_mondo_relaxed.owl longitudinal meromelia ICD10:Q72.8|UMLS:C0018987|SCTID:33076008|ICD10:Q73.8|Orphanet:2130|ICD10:Q71.8|NCIT:C34674|MedDRA:10019464 owl:Class MONDO:0000935 biolink:NamedThing larynx squamous papilloma A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. tmpak2llvmy_mondo_relaxed.owl larynx squamous papilloma|squamous papilloma of larynx|papilloma of larynx|laryngeal papilloma|papilloma of the larynx|larynx papilloma|squamous papilloma of the larynx NCIT:C7742|DOID:10071|UMLS:C0240164 owl:Class GO:0043232 biolink:NamedThing intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. tmpak2llvmy_mondo_relaxed.owl intracellular non-membrane-enclosed organelle owl:Class MONDO:0000703 biolink:NamedThing collagenous colitis A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpak2llvmy_mondo_relaxed.owl Orphanet:36205|MESH:D046729|DOID:0060183|ICD10:K52.89|ICD10:K52.831|SCTID:19311003|ICD9:558.9|UMLS:C0238067|MedDRA:10048928|EFO:1001293|GARD:0006135|NCIT:C27021 https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis owl:Class GO:0051782 biolink:NamedThing negative regulation of cell division Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. tmpak2llvmy_mondo_relaxed.owl down regulation of cell division|inhibition of cell division|down-regulation of cell division|downregulation of cell division owl:Class MONDO:0001746 biolink:NamedThing optic disk drusen Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) tmpak2llvmy_mondo_relaxed.owl optic nerve head drusen|drusen of optic disc UMLS:C0029128|SCTID:33629003|ICD10:H47.32|DOID:13561|ICD9:377.21|MESH:D015594 owl:Class MONDO:0017997 biolink:NamedThing telecanthus-hypertelorism-strabismus-pes cavus syndrome Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. tmpak2llvmy_mondo_relaxed.owl Orphanet:3293|UMLS:CN204205 owl:Class UBERON:0012464 biolink:NamedThing cloacal vent The opening of the cloacal chamber to the outside of the organism. Birds maintain a single cloacal opening throughout their lives. tmpak2llvmy_mondo_relaxed.owl cloacal opening|cloacal orifice|vent owl:Class MONDO:0017078 biolink:NamedThing cephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. tmpak2llvmy_mondo_relaxed.owl encephalocele|cephalocele (disease)|cephalocele|cranium bifidum cephalocele (disease) ICD10:Q01.2|ICD9:742.0|NCIT:C84687|ICD10:Q01.8|SCTID:55999004|Orphanet:268817|ICD10:Q01.0|HP:0011815|ICD10:Q01.1|ICD10:Q01.9 owl:Class MONDO:0018483 biolink:NamedThing secondary pulmonary alveolar proteinosis A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency. tmpak2llvmy_mondo_relaxed.owl secondary PAP|SPAP UMLS:C3873302|Orphanet:420259|ICD10:J84.0|SCTID:707510005 Editor note: TODO DP for secondary diseases owl:Class MONDO:0014011 biolink:NamedThing autosomal recessive congenital ichthyosis 10 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. tmpak2llvmy_mondo_relaxed.owl ARCI10|ichthyosis, congenital, autosomal recessive 10|autosomal recessive congenital ichthyosis type 10|ichthyosis, congenital, autosomal recessive type 10 OMIM:615024|DOID:0060719|UMLS:C3554355|ICD10:Q80.2 owl:Class CHEBI:29988 biolink:NamedThing L-glutamate(2-) An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid. tmpak2llvmy_mondo_relaxed.owl L-glutamate(2-)|L-glutamate|(2S)-2-aminopentanedioate|L-glutamic acid dianion owl:Class MONDO:0017404 biolink:NamedThing distal Xq28 microduplication syndrome Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl distal trisomy Xq28|distal dup(X)q(28) ICD10:Q99.8|UMLS:CN203151|Orphanet:293939 owl:Class MONDO:0010436 biolink:NamedThing chromosome Xq28 duplication syndrome tmpak2llvmy_mondo_relaxed.owl chromosome Xq28 duplication syndrome UMLS:C2749007|MESH:C567580|OMIM:300815 owl:Class MONDO:0005950 biolink:NamedThing Salmonella gastroenteritis Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. tmpak2llvmy_mondo_relaxed.owl Salmonella caused gastroenteritis ICD9:003.0|EFO:0007475|SCTID:42338000|MESH:D012478 owl:Class MONDO:0014062 biolink:NamedThing mitochondrial DNA deletion syndrome with progressive myopathy tmpak2llvmy_mondo_relaxed.owl mtDNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtDNA deletion syndrome with progressive myopathy|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6|mitochondrial DNA deletion syndrome with limb-girdle weakness|PEOA6 OMIM:615156|UMLS:C3554599|DOID:0111519|Orphanet:352470|ICD10:G71.3 owl:Class GO:1903552 biolink:NamedThing negative regulation of extracellular exosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. tmpak2llvmy_mondo_relaxed.owl down-regulation of extracellular vesicular exosome assembly|down regulation of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly owl:Class MONDO:0022817 biolink:NamedThing congenital amputation tmpak2llvmy_mondo_relaxed.owl GARD:0001471 https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation owl:Class UBERON:0004491 biolink:NamedThing cardiac muscle tissue of interatrial septum A portion of cardiac muscle tissue that is part of a interatrial septum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl interatrial septum muscle|interatrial septum heart muscle|interatrial septum myocardium|interatrial septum cardiac muscle tissue owl:Class UBERON:0001133 biolink:NamedThing cardiac muscle tissue Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. tmpak2llvmy_mondo_relaxed.owl textus muscularis of cardiac muscle|muscle of heart muscle tissue|myocardium textus muscularis|myocardium muscle tissue|textus muscularis of heart myocardium|muscle tissue of cardiac muscle|textus muscularis of heart muscle|cardiac musculature|heart muscle muscle tissue|heart muscle textus muscularis|muscle tissue of muscle of heart|cardiac muscle textus muscularis|muscle tissue of heart muscle|cardiac muscle|cardiac muscle muscle tissue|textus muscularis of muscle of heart|textus muscularis of myocardium|muscle tissue of heart myocardium|muscle tissue of myocardium|heart myocardium textus muscularis|heart myocardium muscle tissue|muscle of heart textus muscularis owl:Class MONDO:0009965 biolink:NamedThing Perlman syndrome Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism|PRLMNS|Perlman syndrome|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor GARD:0003936|MESH:C536399|DOID:0060476|Orphanet:2849|UMLS:C0796113|NCIT:C103144|SCTID:722231005|ICD10:Q87.3|OMIM:267000 https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome owl:Class MONDO:0008095 biolink:NamedThing nevus anemicus A capillary vascular anomaly that is characterized by hypopigmented macules. tmpak2llvmy_mondo_relaxed.owl NEVUS anemicus|nevus anemicus (disease)|anemicus Nevus|Nevus anemicus nevus anemicus (disease) HP:0025105|SCTID:40929003|ICD9:709.09|OMIM:163050|NCIT:C3943 owl:Class MONDO:0016841 biolink:NamedThing 20p12.3 microdeletion syndrome 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Del(20)(p12.3)|monosomy 20p12.3 SCTID:719650004|GARD:0012492|ICD10:Q93.5|UMLS:C4304539|Orphanet:261295|UMLS:CN202180 https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome owl:Class UBERON:0009715 biolink:NamedThing stomodeal lumen An anatomical cavity that surrounded_by a stomodeum. tmpak2llvmy_mondo_relaxed.owl lumen of stomodeum|stomatodeal cavity|lumen of stomatodaeum owl:Class UBERON:0015147 biolink:NamedThing pinna hair A strand of hair that is part of a pinna. tmpak2llvmy_mondo_relaxed.owl ear hair owl:Class UBERON:8410049 biolink:NamedThing serosal nerve fiber of appendix A nerve fiber that is located in the serosa of vermiform appendix. tmpak2llvmy_mondo_relaxed.owl serosal nerve fiber of vermiform appendix|nerve fibre of serosa of appendix|nerve fiber of serosa of appendix|serosal nerve fibre of appendix|serosal nerve fibre of appendix vermiformis|serosal nerve fiber of appendix vermiformis|serosal nerve fibre of vermiform appendix owl:Class GO:0008348 biolink:NamedThing negative regulation of antimicrobial humoral response Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. tmpak2llvmy_mondo_relaxed.owl downregulation of antimicrobial humoral response|down regulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down-regulation of antimicrobial humoral response|attenuation of antimicrobial humoral response owl:Class GO:0002832 biolink:NamedThing negative regulation of response to biotic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of response to biotic stimulus|down-regulation of response to biotic stimulus|downregulation of response to biotic stimulus|down regulation of response to biotic stimulus owl:Class NCBITaxon:6194 biolink:NamedThing Opisthorchiata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000496 biolink:NamedThing Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. tmpak2llvmy_mondo_relaxed.owl Oculomotor abnormalities|Abnormal eye motility|Abnormal eye movements|Ocular movement abnormalities|Eye movement abnormalities|Abnormal extraocular movement|Abnormal extraocular movements|Abnormal movement of the globe of the eye|Eye movement issue|Abnormality of eye movement|Abnormal eye movement|Abnormal motility of the globe of the eye|Abnormal ocular movements SNOMEDCT_US:103252009|UMLS:C0497202 HP:0006860 human_phenotype owl:Class MONDO:0002453 biolink:NamedThing retrocochlear disease Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. tmpak2llvmy_mondo_relaxed.owl UMLS:C0035352|DOID:2889|MESH:D012181 owl:Class MONDO:0700071 biolink:NamedThing myopathy caused by varation in POMT2 Any myopathy in which the cause of the disease is a variation in the POMT2 gene. tmpak2llvmy_mondo_relaxed.owl POMT2-related myopathy|myopathy caused by mutation in POMT2|POMT2 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0034150 biolink:NamedThing idiopathic gastroparesis tmpak2llvmy_mondo_relaxed.owl Orphanet:558411 owl:Class MONDO:0019253 biolink:NamedThing metabolic disease involving other neurotransmitter deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:CN205839|Orphanet:79219 owl:Class MONDO:0019250 biolink:NamedThing inborn disorder of biogenic amine metabolism and transport tmpak2llvmy_mondo_relaxed.owl disorder of biogenic amine metabolism and transport UMLS:CN227606|Orphanet:79214 owl:Class MONDO:0015730 biolink:NamedThing mosaic trisomy 17 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 17|chromosome 17, trisomy mosaicism|chromosome 17, trisomy|chromosome 17 trisomy|chromosome 17 duplication|trisomy 17 mosaicism|Mosaic trisomy chromosome 17|Mosaic trisomy type 17 NCIT:C37865|GARD:0005317|SCTID:764622004|ICD10:Q92.1|Orphanet:1711|MESH:C538044|UMLS:C1096168 owl:Class GO:0045657 biolink:NamedThing positive regulation of monocyte differentiation Any process that activates or increases the frequency, rate or extent of monocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up-regulation of monocyte differentiation|upregulation of monocyte differentiation|activation of monocyte differentiation|stimulation of monocyte differentiation|up regulation of monocyte differentiation owl:Class GO:0045655 biolink:NamedThing regulation of monocyte differentiation Any process that modulates the frequency, rate or extent of monocyte differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002009 biolink:NamedThing macrophage dendritic cell progenitor A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. tmpak2llvmy_mondo_relaxed.owl MDP tmeehan 2010-01-19T02:51:58Z cell owl:Class CL:0000438 biolink:NamedThing luteinizing hormone secreting cell A peptide hormone secreting cell pituitary that produces luteinizing hormone. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0014954 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 2 tmpak2llvmy_mondo_relaxed.owl EDSPD2|Ehlers-Danlos syndrome, periodontal type, 2 OMIM:617174 owl:Class MONDO:0007527 biolink:NamedThing Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. tmpak2llvmy_mondo_relaxed.owl EDS8 (formerly)|Ehlers-Danlos syndrome, type VIII (formerly)|EDS8|Ehlers-Danlos syndrome, periodontosis type|EDS 8|Ehlers-Danlos syndrome type 8 (formerly)|Ehlers-Danlos syndrome type 8|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome, periodontitis type|EDS VIII|pEDS|periodontal Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VIII|EDS VIII (formerly)|periodontal EDS GARD:0012474|Orphanet:75392|ICD10:Q79.6|MESH:C562626|SCTID:50869007 owl:Class MONDO:0004417 biolink:NamedThing nested variant infiltrating bladder urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, nested variant DOID:7969|UMLS:C1512741|NCIT:C39819 owl:Class GO:0051349 biolink:NamedThing positive regulation of lyase activity Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpak2llvmy_mondo_relaxed.owl up regulation of lyase activity|stimulation of lyase activity|upregulation of lyase activity|activation of lyase activity|up-regulation of lyase activity|lyase activator owl:Class UBERON:0005226 biolink:NamedThing pedal digit epithelium An epithelium that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl toe epithelium|foot digit epithelium|hind limb digit epithelium owl:Class MONDO:0017242 biolink:NamedThing cutaneous collagenous vasculopathy Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. tmpak2llvmy_mondo_relaxed.owl CCV|cutaneus colagenous vasculopathy Orphanet:280779|UMLS:C4305323|SCTID:718634003|GARD:0012428 owl:Class MONDO:0011853 biolink:NamedThing Camptosynpolydactyly, complex tmpak2llvmy_mondo_relaxed.owl camptosynpolydactyly, complex|CCSPD|camptopolydactyly, disorganization type OMIM:607539|UMLS:C1843758|MESH:C564383 owl:Class GO:0002263 biolink:NamedThing cell activation involved in immune response A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl cell activation during immune response owl:Class MONDO:0014462 biolink:NamedThing focal segmental glomerulosclerosis 8 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. tmpak2llvmy_mondo_relaxed.owl glomerulosclerosis, focal segmental, 8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis caused by mutation in ANLN|ANLN focal segmental glomerulosclerosis|FSGS8|focal segmental glomerulosclerosis 8 ICD10:N04.1|OMIM:616032|UMLS:C4014993|DOID:0111133 owl:Class UBERON:0010507 biolink:NamedThing layer of dura mater The intracranial dura mater, consisting of two layers: the outer periosteal layer which normally always adheres to the periosteum of the bones of the cranial vault; and the inner meningeal layer which in most places is fused with the outer. The two layers separate to accommodate meningeal vessels and large venous (dural) sinuses. The meningeal layer is also involved in the formation of the various dural folds, such as the falx cerebri and tentorium cerebelli and is comparable to and continuous with the dural mater of the spinal cord. The cranial epidural space is then a potential space between the bone and the combined periosteum/periosteal layer of the dura mater realised only pathologically and is neither continuous with or comparable to the vertebral epidural space tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13771 biolink:NamedThing SOST tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020745 biolink:NamedThing autosomal dominant cardiac arrhythmia (Kuhn) tmpak2llvmy_mondo_relaxed.owl extrasystoles|cardiac arrhythmia OMIM:115000 owl:Class CL:2000018 biolink:NamedThing endothelial cell of coronary artery Any endothelial cell of artery that is part of a coronary artery. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T17:08:47Z cell owl:Class CL:0010006 biolink:NamedThing cardiac blood vessel endothelial cell tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:186801 biolink:NamedThing Clostridia tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:26410691|PMID:31076745 ncbi_taxonomy owl:Class MONDO:0015466 biolink:NamedThing cranio-osteoarthropathy Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. tmpak2llvmy_mondo_relaxed.owl Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy|cranio osteoarthropathy|Currarino disease Orphanet:1525|SCTID:720753002|UMLS:CN199601|ICD10:M89.4|GARD:0001564 https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy owl:Class MONDO:0015301 biolink:NamedThing primary cutaneous amyloidosis Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. tmpak2llvmy_mondo_relaxed.owl PLCA|primary localized cutaneous amyloidosis|amyloidosis IX|amyloidosis familial cutaneous lichen|familial primary localized cutaneous amyloidosis|lichen amyloidosis familial|amyloidosis, primary localized cutaneous ICD10:L99.0*|DOID:0050639|GARD:0000132|ICD10:E85.4+|SCTID:282834007|MESH:C562642|UMLS:C0268397|MedDRA:10011659|Orphanet:137807 https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis owl:Class MONDO:0015519 biolink:NamedThing congenital or early infantile CACH syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:157713|ICD10:E75.2 owl:Class MONDO:0008207 biolink:NamedThing chondromalacia patellae Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. tmpak2llvmy_mondo_relaxed.owl patella, chondromalacia OF|patella chondromalacia|chondromalacia patellae|familial chondromalacia patellae|chondromalacia of patella|softening of articular cartilage of patella OMIM:168900|ICD9:717.7|MESH:D046789|SCTID:36071006|UMLS:C0008475|Orphanet:1428|ICD10:M22.4|DOID:13357 owl:Class MONDO:0018679 biolink:NamedThing primary cutaneous plasmacytosis tmpak2llvmy_mondo_relaxed.owl ICD10:L98.6|Orphanet:451602 owl:Class PATO:0001412 biolink:NamedThing unstructured A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022648 biolink:NamedThing cardiomyopathy and deafness due to tRNA lysine gene mutation A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy and deafness due to tRNA lysine gene mutation|cardiomyopathy and deafness due to MTTK gene mutation GTR:AN0103739|HGNC:7489|GARD:0001108|UMLS:CN036924|GTR:AN0103738 https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation owl:Class MONDO:0003478 biolink:NamedThing childhood ependymoma An ependymoma that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric ependymoma|ependymoma of childhood|ependymoma|childhood ependymoma MESH:C531673|DOID:5509|NCIT:C8578 owl:Class FOODON:03420116 biolink:NamedThing part of organism Anatomical part of the plant or animal from which a food product or its major ingredient is derived. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000492 biolink:NamedThing CD4-positive helper T cell A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. tmpak2llvmy_mondo_relaxed.owl CD4-positive helper T-lymphocyte|CD4-positive helper T lymphocyte|CD4-positive helper T-cell|CD4-positive T-helper cell FMA:70572|CALOHA:TS-1146 cell owl:Class CL:0000624 biolink:NamedThing CD4-positive, alpha-beta T cell A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. tmpak2llvmy_mondo_relaxed.owl CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T-lymphocyte cell owl:Class MONDO:0007447 biolink:NamedThing autosomal dominant vibratory urticaria An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. tmpak2llvmy_mondo_relaxed.owl VBU|vibratory urticaria, autosomal dominant|angioedema, vibratory|vibratory angioedema|dermodistortive urticaria|DDU OMIM:193050|ICD9:995.1|OMIM:125630|MESH:C536347|UMLS:C0473546|Orphanet:493342|UMLS:C1852146|SCTID:238694002 owl:Class MONDO:0005002 biolink:NamedThing chronic obstructive pulmonary disease A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. tmpak2llvmy_mondo_relaxed.owl pulmonary disease (COPD), chronic obstructive|disease (COPD), chronic obstructive|cold (chronic obstructive lung disease)|chronic obstructive lung disease|COPD|obstructive pulmonary disease (COPD), chronic|chronic obstructive pulmonary disease, (COPD)|obstructive lung disease, chronic|cold|chronic obstructive airway disease|chronic obstructive airways disease|chronic obstructive pulmonary disease (COPD)|COPD, chronic obstructive pulmonary disease ICD10:J44.9|EFO:0000341|SCTID:13645005|ICD9:490-496.99|ICD9:496|NCIT:C3199|MESH:D029424|DOID:3083 owl:Class MONDO:0024307 biolink:NamedThing prothrombin deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000387 biolink:NamedThing soft A hardness quality of giving little resistance to pressure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018805 biolink:NamedThing bile duct cyst Cystic dilatation of the hepatic duct or bile duct. tmpak2llvmy_mondo_relaxed.owl congenital cystic dilatation of the biliary tract|choledochal cyst|choledochal cysts|congenital choledochal cyst|bile duct cysts|choledochocele ICD10:Q44.4|ICD9:576.8|OMIM:603003|GARD:0009229|MESH:D015529|DOID:899|ICD9:751.69|Orphanet:480501|SCTID:397868007|SCTID:398197009 owl:Class MONDO:0017271 biolink:NamedThing autosomal ichthyosis syndrome with prominent hair abnormalities tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN202792|Orphanet:281222 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class MONDO:0019900 biolink:NamedThing non-distal monosomy 12q tmpak2llvmy_mondo_relaxed.owl non-distal monosomy type 12q|non-distal deletion 12q|non-telomeric monosomy 12q Orphanet:96160|ICD10:Q93.5 owl:Class GO:0005592 biolink:NamedThing collagen type XI trimer A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005583 biolink:NamedThing fibrillar collagen trimer Any triple helical collagen trimer that forms fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017528 biolink:NamedThing polydactyly of an index finger, bilateral tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly type 3, bilateral UMLS:CN203259|ICD10:Q69.0|Orphanet:295154 owl:Class MONDO:0018182 biolink:NamedThing bullous impetigo Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. tmpak2llvmy_mondo_relaxed.owl Orphanet:36237|SCTID:399183005|UMLS:C0021100|MedDRA:10006563|ICD10:L01.03|ICD10:L01.0 owl:Class MONDO:0015425 biolink:NamedThing lethal recessive chondrodysplasia Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome GARD:0001294|ICD10:Q78.8|SCTID:719404009|UMLS:CN199522|Orphanet:1423|UMLS:C4304745 https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive owl:Class HGNC:32434 biolink:NamedThing SLC38A8 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35524 biolink:NamedThing sympathomimetic agent A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. tmpak2llvmy_mondo_relaxed.owl sympathomimetics|sympathomimetic owl:Class CHEBI:37962 biolink:NamedThing adrenergic agent Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. tmpak2llvmy_mondo_relaxed.owl adrenergic drugs|adrenergic agents|adrenergics|adrenergic neuron agents|adrenergic drug owl:Class GO:0009259 biolink:NamedThing ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleotide metabolism owl:Class OBO:CHR_9606-chr22q13 biolink:NamedThing chr22q13 (Human) tmpak2llvmy_mondo_relaxed.owl 50818468 37200000 hg38 owl:Class GO:0061035 biolink:NamedThing regulation of cartilage development Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14561 biolink:NamedThing ARHGEF9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013797 biolink:NamedThing chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. tmpak2llvmy_mondo_relaxed.owl 17q12 deletion syndrome|17q12 recurrent deletion syndrome|17q12 microdeletion syndrome|Del(17)(q12)|chromosome 17q12 deletion syndrome|monosomy 17q12 OMIM:614527|UMLS:C4518822|UMLS:C3281138|Orphanet:261265|SCTID:733519008|DOID:0060404|GARD:0013297|ICD10:Q93.5 owl:Class MONDO:0001372 biolink:NamedThing bladder neck cancer A malignant neoplasm involving the neck of urinary bladder. tmpak2llvmy_mondo_relaxed.owl cancer of neck of urinary bladder|malignant neoplasm of urinary bladder neck|malignant neck of urinary bladder neoplasm|neck of urinary bladder cancer|malignant neoplasm of neck of urinary bladder|malignant tumor of bladder neck SCTID:188244007|ICD10:C67.5|DOID:11809|ICD9:188.5 owl:Class CL:0000216 biolink:NamedThing Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. tmpak2llvmy_mondo_relaxed.owl VHOG:0001348|FMA:72298|CALOHA:TS-0922|BTO:0001238 cell owl:Class CL:0000511 biolink:NamedThing androgen binding protein secreting cell A peptide hormone secreting cell that secretes androgen binding protein. tmpak2llvmy_mondo_relaxed.owl cell owl:Class NCBITaxon:299467 biolink:NamedThing Leptotrombidium deliense tmpak2llvmy_mondo_relaxed.owl scrub typhus mite GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:279271 biolink:NamedThing Leptotrombidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:4279 biolink:NamedThing GJA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019772 biolink:NamedThing blepharospasm-oromandibular dystonia syndrome Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. tmpak2llvmy_mondo_relaxed.owl Meige syndrome|Meige dystonia|segmental cranial dystonia|blepharospasm - oromandibular dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome|Brueghel syndrome|Meige's syndrome|oral facial dystonia|blepharospasm-oromandibular dystonia SCTID:230325003|MESH:D008538|Orphanet:93964|ICD10:G24.8|GARD:0007008|DOID:3982 owl:Class MONDO:0006815 biolink:NamedThing jejunal cancer A malignant neoplasm involving the jejunum. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of jejunum|cancer of jejunum|malignant tumor of jejunum|jejunum cancer|malignant jejunum neoplasm ICD9:152.1|MedDRA:10023166|DOID:13499|ICD10:C17.1|EFO:1000998|UMLS:C0153427|SCTID:363404008 owl:Class UBERON:0005296 biolink:NamedThing ovary sex cord structures that develop from sex cords in the female. After further development they become the ovarian follicles. tmpak2llvmy_mondo_relaxed.owl ovary primitive sex cord|cortical cord|secondary cord|ovigerous cord|cortical sex cord|ovigerous cords owl:Class UBERON:0005295 biolink:NamedThing sex cord Cordlike masses of epithelial tissue that invaginate from germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female. tmpak2llvmy_mondo_relaxed.owl primitive sex cord|genital cord|gonad cord|gonadal cord owl:Class MONDO:0018725 biolink:NamedThing corpus callosum agenesis-macrocephaly-hypertelorism syndrome tmpak2llvmy_mondo_relaxed.owl 7q36.3 microduplication syndrome|dup(7)(q36.3) UMLS:CN242137|Orphanet:459074|ICD10:Q04.0 owl:Class MONDO:0005345 biolink:NamedThing hypospadias Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. tmpak2llvmy_mondo_relaxed.owl familial hypospadias|hypospadias (disease)|hypospadias familial|hypospadias hypospadias (disease) ICD10:Q54.1|ICD10:Q54.3|ICD10:Q54.0|DOID:10892|SCTID:416010008|GARD:0002929|OMIMPS:300633|ICD10:Q54.2|UMLS:CN205090|NCIT:C40341|ICD10:Q54.9|ICD10:Q54.4|Orphanet:440|MESH:D007021|ICD10:Q54.8|HP:0000047|ICD9:752.61|EFO:0004209|UMLS:C0848558|ICD10:Q54 owl:Class ENVO:09200001 biolink:NamedThing temperature of air The temperature of some air. tmpak2llvmy_mondo_relaxed.owl air temperature owl:Class ENVO:09200000 biolink:NamedThing temperature of environmental material The temperature of some environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material temperature owl:Class MONDO:0036591 biolink:NamedThing adrenal cortex neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) tmpak2llvmy_mondo_relaxed.owl adrenocortical tumor|adrenocortical neoplasm|adrenal cortex neoplasm|neoplasm of adrenal cortex|tumor of adrenal cortex|adrenal cortex tumor NCIT:C2858 owl:Class GO:0005579 biolink:NamedThing membrane attack complex A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. tmpak2llvmy_mondo_relaxed.owl MAC|TCC|terminal complement complex|membrane attack complex protein beta2 chain|membrane attack complex protein alphaM chain owl:Class GO:0046930 biolink:NamedThing pore complex A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids. tmpak2llvmy_mondo_relaxed.owl pore|channel-forming toxin activity|pore-forming toxin activity owl:Class MONDO:0043452 biolink:NamedThing chromosome 8, trisomy A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. tmpak2llvmy_mondo_relaxed.owl trisomy 8|chromosome 8 duplication MESH:C537942|SCTID:205649008|NCIT:C36396 owl:Class ENVO:02500014 biolink:NamedThing forest process tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001795 biolink:NamedThing ecosystem process An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011280 biolink:NamedThing Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. tmpak2llvmy_mondo_relaxed.owl Abnormality of urine Ca concentration|Abnormality of urine Ca2+ concentration UMLS:C4023434 peter 2011-12-30T03:27:02Z human_phenotype owl:Class HP:0012591 biolink:NamedThing Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. tmpak2llvmy_mondo_relaxed.owl Urinary electrolyte imbalance UMLS:C4022833 peter 2014-01-16T05:44:11Z human_phenotype owl:Class MONDO:0005750 biolink:NamedThing ephemeral fever An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. tmpak2llvmy_mondo_relaxed.owl EFO:0007258|UMLS:C0014481|MESH:D004810 owl:Class MONDO:0001770 biolink:NamedThing gastrin secretion abnormality tmpak2llvmy_mondo_relaxed.owl ICD9:251.5|SCTID:47344007|DOID:13656|UMLS:C0000774 owl:Class GO:0032780 biolink:NamedThing negative regulation of ATPase activity Any process that stops or reduces the rate of ATP hydrolysis by an ATPase. tmpak2llvmy_mondo_relaxed.owl negative regulation of adenosinetriphosphatase activity|downregulation of ATPase activity|down-regulation of ATPase activity|down regulation of ATPase activity|inhibition of ATPase activity owl:Class MONDO:0011210 biolink:NamedThing mitochondrial intermembrane space protein Tim12, yeast, homolog of tmpak2llvmy_mondo_relaxed.owl mitochondrial intermembrane space protein Tim12, yeast, homolog of OMIM:602252 owl:Class UBERON:0016531 biolink:NamedThing white matter of parietal lobe A white matter of cerebral lobe that is part of a parietal lobe. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016527 biolink:NamedThing white matter of cerebral lobe tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013918 biolink:NamedThing distal tetrasomy 15q tmpak2llvmy_mondo_relaxed.owl distal tetrasomy type 15q|tetrasomy type 15Q26|levy-Shanske syndrome|tetrasomy 15(q25-qter)|tetrasomy 15q26 UMLS:CN203770|UMLS:C3553858|ICD10:Q99.8|Orphanet:314588|OMIM:614846 owl:Class MONDO:0017805 biolink:NamedThing intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:314575|UMLS:CN203768 owl:Class UBERON:0001469 biolink:NamedThing sternoclavicular joint The sternoclavicular articulation is a double arthrodial joint composed of two portions separated by an articular disc. The parts entering into its formation are the sternal end of the clavicle, the upper and lateral part of the manubrium sterni, and the cartilage of the first rib, visible from the outside as the suprasternal notch. The articular surface of the clavicle is much larger than that of the sternum, and is invested with a layer of cartilage, which is considerably thicker than that on the latter bone. The ligaments of this joint are: Articular capsule Anterior sternoclavicular ligament Posterior sternoclavicular ligament Interclavicular ligament Costoclavicular ligament Articular disk [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl sternoclavicular articulation|sterno clavicular joint|articulatio sternoclavicularis|sternoclavicular owl:Class MONDO:0020154 biolink:NamedThing microblepharon-ablephara syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:98563|ICD10:Q10.3|UMLS:CN237783 owl:Class MONDO:0019419 biolink:NamedThing X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl Johnson syndrome Orphanet:85320|UMLS:CN206174|ICD10:Q87.8|SCTID:719825000 owl:Class HGNC:3811 biolink:NamedThing FOXG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008308 biolink:NamedThing priapism, familial idiopathic tmpak2llvmy_mondo_relaxed.owl priapism, familial idiopathic|familial idiopathic priapism UMLS:C1867771|GARD:0010016|MESH:C531791|OMIM:176620 owl:Class CHEBI:35568 biolink:NamedThing mancude ring Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. tmpak2llvmy_mondo_relaxed.owl mancude-ring systems|mancude rings|mancunide-ring systems owl:Class MONDO:0011355 biolink:NamedThing cone-rod dystrophy 7 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in RIMS1|cone-rod dystrophy type 7|RIMS1 cone-rod dystrophy|CORD7|cone-rod dystrophy 7 UMLS:C1863634|MESH:C566350|DOID:0111012|OMIM:603649 owl:Class GO:1904057 biolink:NamedThing negative regulation of sensory perception of pain Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain. tmpak2llvmy_mondo_relaxed.owl down-regulation of perception of physiological pain|inhibition of sensory perception of pain|downregulation of sensory perception of pain|down-regulation of sensory perception of pain|inhibition of perception of physiological pain|inhibition of nociception|downregulation of perception of physiological pain|down regulation of perception of physiological pain|down regulation of nociception|down-regulation of nociception|negative regulation of nociception|down regulation of sensory perception of pain|downregulation of nociception|negative regulation of perception of physiological pain owl:Class GO:0031645 biolink:NamedThing negative regulation of nervous system process Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. tmpak2llvmy_mondo_relaxed.owl downregulation of neurological process|down regulation of neurological process|negative regulation of neurological process|negative regulation of neurological system process|negative regulation of neurophysiological process|down-regulation of neurological process|inhibition of neurological process owl:Class MONDO:0012749 biolink:NamedThing mesomelic dysplasia, camera type tmpak2llvmy_mondo_relaxed.owl mesomelic dysplasia, camera type MESH:C567503|UMLS:C2678472|OMIM:611886 owl:Class MONDO:0012899 biolink:NamedThing alopecia, androgenetic, 3 tmpak2llvmy_mondo_relaxed.owl AGA3|alopecia, androgenetic, 3 UMLS:C2676272|OMIM:612421|MESH:C567317 owl:Class MONDO:0008377 biolink:NamedThing retinitis pigmentosa 1 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. tmpak2llvmy_mondo_relaxed.owl RP1 retinitis pigmentosa|retinitis pigmentosa|retinitis pigmentosa 1|retinitis pigmentosa type 1|RP1|RP|retinitis pigmentosa caused by mutation in RP1 DOID:0110390|GARD:0009149|MESH:C538365|ICD10:H35.5|UMLS:C0220701|OMIM:180100 owl:Class MONDO:0011314 biolink:NamedThing Graves disease, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl Graves disease, susceptibility to, 2|Graves disease, susceptibility to, type 2|Grd2 OMIM:603388 owl:Class NCBITaxon:2267273 biolink:NamedThing Dibothriocephalus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043114 biolink:NamedThing Landy-Donnai syndrome tmpak2llvmy_mondo_relaxed.owl hydrops, ectrodactyly, syndactyly, duplication of the great toes GARD:0003172|MESH:C537266|UMLS:C2931460 owl:Class UBERON:0011597 biolink:NamedThing bone of upper jaw Any bone that is part of the upper jaw skeleton. This includes (when present): the maxilla, the quadrate (in some species). tmpak2llvmy_mondo_relaxed.owl upper jaw bone owl:Class UBERON:0001193 biolink:NamedThing hepatic artery An artery that supplies the liver. tmpak2llvmy_mondo_relaxed.owl arteria hepatica propria|arteria hepatica owl:Class CL:0002359 biolink:NamedThing placental hematopoietic stem cell A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-22T10:30:02Z cell owl:Class GO:0007272 biolink:NamedThing ensheathment of neurons The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. tmpak2llvmy_mondo_relaxed.owl ionic insulation of neurons by glial cells owl:Class UBERON:0000086 biolink:NamedThing zona pellucida A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. tmpak2llvmy_mondo_relaxed.owl oolemma|zona radiata|pellucid zone|vitelline envelope|vitelline membrane|zona pellucida - vitelline membrane|zona striata|striated membrane owl:Class MONDO:0005942 biolink:NamedThing Reye syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. tmpak2llvmy_mondo_relaxed.owl Reye's syndrome SCTID:74351001|UMLS:C0035400|NCIT:C34983|MedDRA:10039012|ICD10:G93.7|MESH:D012202|DOID:14525|GARD:0007570|ICD9:331.81|EFO:0007467|Orphanet:3096 https://github.com/monarch-initiative/mondo/issues/3608 owl:Class GO:0001867 biolink:NamedThing complement activation, lectin pathway Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes. tmpak2llvmy_mondo_relaxed.owl complement cascade, lectin pathway owl:Class MONDO:0016177 biolink:NamedThing systemic inflammatory disease associated with an acquired peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN200929|Orphanet:209007 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inflammatory disease' MONDO_0021166 owl:Class MONDO:0006040 biolink:NamedThing lactic acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. tmpak2llvmy_mondo_relaxed.owl UMLS:C0001125|MESH:D000140|SCTID:91273001 owl:Class GO:0046467 biolink:NamedThing membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. tmpak2llvmy_mondo_relaxed.owl membrane lipid formation|membrane lipid biosynthesis|membrane lipid synthesis|membrane lipid anabolism owl:Class MONDO:0012107 biolink:NamedThing neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia UMLS:C1837492|MESH:C563870|OMIM:608720 owl:Class MONDO:0015942 biolink:NamedThing frontometaphyseal dysplasia Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl frontometaphyseal dysplasia|FMD ICD9:759.89|OMIMPS:305620|GARD:0000826|Orphanet:1826|ICD10:Q78.5|SCTID:62803002|DOID:0111785|MESH:C538064 owl:Class HP:0002438 biolink:NamedThing Cerebellar malformation tmpak2llvmy_mondo_relaxed.owl UMLS:C4025708 human_phenotype owl:Class GO:0006956 biolink:NamedThing complement activation Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. tmpak2llvmy_mondo_relaxed.owl complement cascade|complement response|complement activity owl:Class MONDO:0016613 biolink:NamedThing APC-related attenuated familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl APC-related attenuated familial polyposis coli|APC-related attenuated FAP|APC-related attenuated familial adenomatous polyposis|APC-related AFAP Orphanet:247806|UMLS:CN201818|ICD10:D12.6 Editor note: TODO add gene owl:Class MONDO:0001407 biolink:NamedThing tracheal cancer A malignant neoplasm involving the trachea tmpak2llvmy_mondo_relaxed.owl malignant trachea neoplasm|malignant trachea tumor|malignant tracheal tumor|malignant tumor of the trachea|cancer of trachea|malignant neoplasm of trachea|malignant neoplasm of the trachea|Ca trachea|malignant tumor of trachea|trachea cancer|malignant tracheal neoplasm|tracheal neoplasm SCTID:363432004|NCIT:C9346|ICD9:162.0|DOID:11920|ICD10:C33|UMLS:C0153489 owl:Class MONDO:0010267 biolink:NamedThing episodic muscle weakness, X-linked tmpak2llvmy_mondo_relaxed.owl episodic muscle weakness, X-linked|EMWX MESH:C564565|OMIM:300211|UMLS:C1846173 owl:Class MONDO:0002442 biolink:NamedThing long QT syndrome A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. tmpak2llvmy_mondo_relaxed.owl LQT|long QT syndrome|long Q-T syndrome|ventricular arrhythmia associated with long QT syndrome MESH:D008133|ICD10:I45.81|NCIT:C34786|ICD9:426.82|UMLS:C0023976|DOID:2843 owl:Class MONDO:0015842 biolink:NamedThing bicornuate uterus tmpak2llvmy_mondo_relaxed.owl SCTID:31401003|MedDRA:10004550|Orphanet:180134|ICD10:Q51.3 owl:Class MONDO:0015829 biolink:NamedThing non-syndromic uterovaginal malformation A uterovaginal malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated uterovaginal malformation|nonsyndromic uterovaginal malformation Orphanet:180065 owl:Class MONDO:0011928 biolink:NamedThing caudal duplication Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. tmpak2llvmy_mondo_relaxed.owl caudal DUPLICATION anomaly|dipygus|split notochord syndrome OMIM:607864|UMLS:C1842884|GARD:0001164|Orphanet:1756|SCTID:71464000|ICD10:Q87.8|MESH:C564315 https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication owl:Class HGNC:11847 biolink:NamedThing TLR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017067 biolink:NamedThing cervicothoracic spina bifida aperta tmpak2llvmy_mondo_relaxed.owl UMLS:CN202426|Orphanet:268397 owl:Class MONDO:0017062 biolink:NamedThing spina bifida aperta tmpak2llvmy_mondo_relaxed.owl ICD10:Q05.1|ICD10:Q05.2|ICD10:Q05.4|SCTID:58557008|Orphanet:268369|ICD10:Q05.0|ICD10:Q05.6|UMLS:CN202421|ICD10:Q05.9|ICD10:Q05.5|ICD10:Q05.3|ICD10:Q05.8|ICD10:Q05.7 owl:Class MONDO:0043141 biolink:NamedThing microdontia hypodontia short stature tmpak2llvmy_mondo_relaxed.owl microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality UMLS:C2931532|MESH:C537553|GARD:0003638 owl:Class MONDO:0004412 biolink:NamedThing malignant spiradenoma A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. tmpak2llvmy_mondo_relaxed.owl malignant eccrine spiradenoma (morphologic abnormality)|malignant spiradenoma|spiradenoma, malignant|malignant eccrine spiradenoma|Spiradenocarcinoma SCTID:403942003|NCIT:C5117|DOID:7960|GARD:0010466|UMLS:C1266063|ICDO:8403/3 owl:Class CL:2000017 biolink:NamedThing fibroblast of peridontal ligament Any fibroblast that is part of a periodontal ligament. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T16:50:33Z cell owl:Class MONDO:0018823 biolink:NamedThing X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN776924|Orphanet:480907 owl:Class NCBITaxon:203691 biolink:NamedThing Spirochaetes tmpak2llvmy_mondo_relaxed.owl Spirochaetota|Spirochaetaeota|Spirochaetae PMID:11837318|PMID:26654112|GC_ID:11|PMID:29458499 ncbi_taxonomy owl:Class MONDO:0019373 biolink:NamedThing desmoplastic small round cell tumor Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. tmpak2llvmy_mondo_relaxed.owl Desmoplas. small round cell tumor|Desmoplastic small round-cell tumor|DSRCT|Desmoplastic small round-cell neoplasm|desmoplastic small-round-cell tumor|Polyphenotypic small round cell tumor|desmoplastic small round cell tumor|Desmoplastic small round cell tumor NCIT:C8300|MedDRA:10064581|MESH:D058405|MedDRA:10064587|HGNC:12796|ICD10:C48.2|ICDO:8806/3|ONCOTREE:DSRCT|EFO:1000895|Orphanet:83469|UMLS:C0281508|GARD:0006265 https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor owl:Class PATO:0001997 biolink:NamedThing decreased amount An amount which is relatively low. tmpak2llvmy_mondo_relaxed.owl decreased|reduced|subnumerary|present in fewer numbers in organism|decreased number owl:Class PATO:0002301 biolink:NamedThing decreased quality A quality that has a value that is decreased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015137 biolink:NamedThing periodic fever syndrome Fevers of unknown etiology recurring over months or years. tmpak2llvmy_mondo_relaxed.owl Orphanet:101995|UMLS:C3889979|UMLS:C0015974|MedDRA:10034533|ICD10:E85.0|NCIT:C118240 owl:Class NCBITaxon:260964 biolink:NamedThing Henipavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017029 biolink:NamedThing Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis that occurs during adulthood. tmpak2llvmy_mondo_relaxed.owl Langerhans cell granulomatosis specific to adulthood|histiocytosis X specific to adulthood|adult Langerhans cell histiocytosis|Langerhans cell histiocytosis Orphanet:264750|NCIT:C114929|UMLS:C3900100 owl:Class MONDO:0018310 biolink:NamedThing Langerhans cell histiocytosis Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. tmpak2llvmy_mondo_relaxed.owl Langerhans cell histiocytosis, NOS|Lch|letterer-Siwe disease involving intrapelvic lymph nodes|letterer-Siwe disease involving spleen|letterer-Siwe disease of intra-abdominal lymph nodes|Langerhans cell histiocytosis|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of intrathoracic lymph nodes|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease involving lymph nodes of head, face and neck|letterer-Siwe disease involving lymph nodes of multiple sites|histiocytosis X|Langerhans cell granulomatosis|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving intra-abdominal lymph nodes|letterer-Siwe disease of intrapelvic lymph nodes|letterer-Siwe disease involving lymph nodes of head, face, and neck|Langerhans cell histiocytosis, Not otherwise specified|Langerhan's cell histiocytosis|LCH|Langerhans-cell histiocytosis|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease of spleen UMLS:C0432548|UMLS:C0432551|ICD10:C96.0|Orphanet:389|ICD10:C96.5|UMLS:C0019621|ICDO:9751/3|UMLS:C0432550|ICD9:202.5|UMLS:C0432549|SCTID:65399007|GARD:0006858|ICDO:9752/1|MedDRA:10069698|UMLS:C0432553|UMLS:C0432554|UMLS:C0432552|ICDO:9753/1|UMLS:C0432547|DOID:2571|ICD9:277.89|OMIM:604856|ICDO:9754/3|EFO:1000318|ICDO:9751/1|NCIT:C3107|ICD10:C96.6|ONCOTREE:LCH We follow NCIT in classifying this as a neoplasm but this may be revisited owl:Class HGNC:11042 biolink:NamedThing SLC6A1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010513 biolink:NamedThing positive regulation of phosphatidylinositol biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022409 biolink:NamedThing positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. tmpak2llvmy_mondo_relaxed.owl up-regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up regulation of cell-cell adhesion|upregulation of cell-cell adhesion|activation of cell-cell adhesion owl:Class GO:0045785 biolink:NamedThing positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion. tmpak2llvmy_mondo_relaxed.owl stimulation of cell adhesion|upregulation of cell adhesion|activation of cell adhesion|up regulation of cell adhesion|up-regulation of cell adhesion owl:Class MONDO:0023143 biolink:NamedThing fetal enterovirus syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002302 https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome owl:Class NCBITaxon:552467 biolink:NamedThing Cryptococcus gattii VGIII tmpak2llvmy_mondo_relaxed.owl Filobasidiella bacillispora|Cryptococcus bacillisporus VGIII|Filobasidiella neoformans var. bacillispora|Cryptococcus bacillisporus GC_ID:1 NCBITaxon:1450542 ncbi_taxonomy owl:Class NCBITaxon:1884637 biolink:NamedThing Cryptococcus gattii species complex tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004808 biolink:NamedThing benign mammary dysplasia tmpak2llvmy_mondo_relaxed.owl benign dysplasia of breast|benign mammary dysplasia ICD9:610.8|DOID:9504|ICD9:610.9|SCTID:57993004 Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia owl:Class MONDO:0001314 biolink:NamedThing chondrocalcinosis An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. tmpak2llvmy_mondo_relaxed.owl pseudogout|calcium pyrophosphate deposition disease ICD9:712.1|SCTID:239832006|HP:0000934|MESH:D002805|DOID:1156|NCIT:C34955|ICD9:275.49 owl:Class MONDO:0007918 biolink:NamedThing microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. tmpak2llvmy_mondo_relaxed.owl Mlcrd syndrome|microcephaly, lymphedema, chorioretinal dysplasia syndrome|microcephaly-lymphedema-chorioretinopathy syndrome|microcephaly lymphedema chorioretinal dysplasia|lymphedema and retinal folds with ficrocephaly and microphthalmos|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|lymphedema, microcephaly, chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|lymphedema and retinal Folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|Cdmmr syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|MLCRD|lymphedema, microcephaly and chorioretinopathy syndrome|MCLMR|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant Orphanet:2526|ICD10:Q87.8|DOID:0060349|OMIM:152950|UMLS:C1835265|GARD:0003622|MESH:C537711 owl:Class MONDO:0012431 biolink:NamedThing diaphragmatic hernia 3 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. tmpak2llvmy_mondo_relaxed.owl congenital diaphragmatic hernia caused by mutation in ZFPM2|ZFPM2 congenital diaphragmatic hernia|diaphragmatic hernia type 3|diaphragmatic hernia 3|DIH3 MESH:C565710|OMIM:610187 owl:Class MONDO:0005132 biolink:NamedThing cytomegalovirus infection A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. tmpak2llvmy_mondo_relaxed.owl Cytomegaloviral infection|HCMV infection|CMV infection UMLS:C0010823|MESH:D003586|ICD9:078.5|SCTID:28944009|NCIT:C53649|EFO:0001062 owl:Class MONDO:0021638 biolink:NamedThing low grade astrocytic tumor A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II). tmpak2llvmy_mondo_relaxed.owl low grade astrocytic tumor|low grade astrocytic neoplasm|low-grade astrocytic tumor|low-grade astrocytic neoplasm UMLS:C3898569|NCIT:C116342 owl:Class GO:0016229 biolink:NamedThing steroid dehydrogenase activity Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2019 biolink:NamedThing CLCN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024610 biolink:NamedThing parasitic skin disease Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. tmpak2llvmy_mondo_relaxed.owl skin disease, parasitic|diseases, parasitic skin|parasitic skin disease|parasitic skin diseases|disease, parasitic skin MESH:D012876|UMLS:C0037280 owl:Class MONDO:0034110 biolink:NamedThing atypical Fanconi syndrome-neonatal hyperinsulinism syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:544628 owl:Class MONDO:0011675 biolink:NamedThing Charcot-Marie-Tooth Disease, axonal, type 2GG Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy dominant intermediate A|CMT2GG|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth disease dominant intermediate A|CMTDIA|DI-CMTA|Charcot-Marie-Tooth disease, dominant intermediate A|Di-Cmta|Charcot-Marie-Tooth disease dominant intermediate type A|Charcot-Marie-Tooth neuropathy, dominant Intermediate a UMLS:C1847896|SCTID:765744006|ICD10:G60.0|Orphanet:100043|OMIM:606483|DOID:0110202|MESH:C564702|GARD:0012437 owl:Class MONDO:0019910 biolink:NamedThing maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpak2llvmy_mondo_relaxed.owl maternal uniparental disomy of chromosome type 2|UPD(2)mat SCTID:766237006|ICD10:Q99.8|Orphanet:96179 owl:Class MONDO:0033653 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 18 tmpak2llvmy_mondo_relaxed.owl MC4DN18 OMIM:619062 owl:Class GO:0032223 biolink:NamedThing negative regulation of synaptic transmission, cholinergic Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpak2llvmy_mondo_relaxed.owl down regulation of synaptic transmission, cholinergic|down-regulation of synaptic transmission, cholinergic|downregulation of synaptic transmission, cholinergic|inhibition of synaptic transmission, cholinergic owl:Class MONDO:0009203 biolink:NamedThing focal facial dermal dysplasia type III Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. tmpak2llvmy_mondo_relaxed.owl focal facial dermal dysplasia 3, Setleis type|Setleis syndrome|bitemporal forceps marks syndrome|bitemporal forceps Marks syndrome|focal facial dermal dysplasia type 2|facial ectodermal dysplasia|focal Facial dermal dysplasia, type II, formerly|FFDD type III|focal Facial dermal dysplasia, type II|FFDD type 2|FFDD3|focal facial dermal dysplasia type III Orphanet:1807|ICD10:Q82.8|GARD:0000121|OMIM:227260|SCTID:403771007 owl:Class MONDO:0018363 biolink:NamedThing focal facial dermal dysplasia Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. tmpak2llvmy_mondo_relaxed.owl FFDD ICD10:Q82.8|Orphanet:398166|OMIMPS:136500 owl:Class MONDO:0016723 biolink:NamedThing pineocytoma Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. tmpak2llvmy_mondo_relaxed.owl pineocytoma, benign|benign pinealoma|Pineocytoma (WHO grade I)|pinealocytoma|pineocytoma (disease)|pineocytoma pineocytoma (disease) MedDRA:10035059|EFO:1000476|UMLS:C0917890|HP:0030407|ICD10:D44.5|ONCOTREE:PINC|ICDO:9361/1|GARD:0008207|SCTID:255045009|Orphanet:251912|NCIT:C6966 owl:Class MONDO:0016488 biolink:NamedThing beta-thalassemia associated with another hemoglobin anomaly Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. tmpak2llvmy_mondo_relaxed.owl Beta-thalassemia associated with another Hb anomaly 2022-03-01 Orphanet:231230|ICD10:D58.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: beta-thalassemia and related diseases' MONDO_0017145 owl:Class MONDO:0017145 biolink:NamedThing beta-thalassemia and related diseases tmpak2llvmy_mondo_relaxed.owl ICD10:D56.1|UMLS:CN202571|Orphanet:275749 owl:Class MONDO:0043555 biolink:NamedThing infantile diarrhea Diarrhea occurring in infants from newborn to 24-months old. tmpak2llvmy_mondo_relaxed.owl infantile onset diarrheal disease|diarrheal disease of infancy|toddler diarrhea|infantile diarrheal disease|infantile Diarrheas|Diarrheas, infantile|infantile diarrhea MESH:D003968|SCTID:39963006|UMLS:C0473132 owl:Class MONDO:0009760 biolink:NamedThing Norman-Roberts syndrome Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. tmpak2llvmy_mondo_relaxed.owl Norman Roberts lissencephaly syndrome|Microlissencephaly type A|lissencephaly type 2|lissencephaly syndrome, Norman-Roberts type|lissencephaly syndrome Norman-Roberts type|Norman-Roberts syndrome|lissencephaly 2|LIS2 SCTID:717977003|UMLS:C0796089|ICD10:Q04.3|OMIM:257320|Orphanet:89844|GARD:0003277|DOID:0060902 owl:Class MONDO:0017824 biolink:NamedThing familial isolated pituitary adenoma tmpak2llvmy_mondo_relaxed.owl FIPA SCTID:702375004|UMLS:CN239192|UMLS:CN244420|OMIMPS:102200|Orphanet:314777|ICD10:D35.2 Editor note: TODO check this owl:Class FOODON:00001771 biolink:NamedThing cow milk based food product tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901227 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in heart development Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpak2llvmy_mondo_relaxed.owl negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in heart development|down regulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in heart development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from Pol II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of global transcription from RNA polymerase II promoter involved in heart development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development owl:Class HGNC:28514 biolink:NamedThing CEP112 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003234 biolink:NamedThing optic nerve astrocytoma A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. tmpak2llvmy_mondo_relaxed.owl optic tract astrocytoma (excluding glioblastoma)|optic nerve astrocytoma|astrocytoma of the optic nerve|optic tract astrocytoma|astrocytoma (excluding glioblastoma) of cranial nerve II|astrocytic tumor of optic nerve|astrocytoma of optic nerve|cranial nerve II astrocytoma (excluding glioblastoma) NCIT:C6769|UMLS:C1335114|DOID:4991 owl:Class GO:0042359 biolink:NamedThing vitamin D metabolic process The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl cholecalciferol metabolism|ergocalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|cholecalciferol metabolic process|calciferol metabolism|ergocalciferol metabolism owl:Class GO:0006775 biolink:NamedThing fat-soluble vitamin metabolic process The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpak2llvmy_mondo_relaxed.owl fat-soluble vitamin metabolism owl:Class MONDO:0003260 biolink:NamedThing adult cerebellar neoplasm A cerebellar neoplasm that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl tumor of adult cerebellum|tumor of the adult cerebellum|neoplasm of adult cerebellum|neoplasm of the adult cerebellum|adult cerebellar tumor|cerebellar neoplasm of adults|adult cerebellar tumors|adult cerebellar neoplasm|adult cerebellar neoplasms UMLS:C1332197|DOID:5056|NCIT:C5968 owl:Class HP:0001394 biolink:NamedThing Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. tmpak2llvmy_mondo_relaxed.owl Liver cirrhosis|Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver UMLS:C0023890|MSH:D008103|SNOMEDCT_US:19943007 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. human_phenotype owl:Class MONDO:0018692 biolink:NamedThing variably protease-sensitive prionopathy tmpak2llvmy_mondo_relaxed.owl UMLS:C4303527|SCTID:721165001|Orphanet:454742|ICD10:A81.8 owl:Class MONDO:0007935 biolink:NamedThing cystoid macular edema Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. tmpak2llvmy_mondo_relaxed.owl autosomal dominant cystoid macular edema|macular dystrophy, dominant cystoid|macular edema, cystoid|DCMD|cystoid macular dystrophy|familial macular edema|Mddc ICD10:H35.5|Orphanet:75381|UMLS:C0024440|DOID:4447|SCTID:312921000|UMLS:C0730317|OMIM:153880|NCIT:C34794 owl:Class HP:0000842 biolink:NamedThing Hyperinsulinemia An increased concentration of insulin in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated insulin level SNOMEDCT_US:83469008|MSH:D006946|UMLS:C0020459 human_phenotype owl:Class HP:0040215 biolink:NamedThing Abnormal circulating insulin level An abnormal concentration of insulin in the blood. tmpak2llvmy_mondo_relaxed.owl UMLS:C4073161 human_phenotype owl:Class MONDO:0007075 biolink:NamedThing alacrima, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl alacrimia congenita|alacrimia congenita, autosomal dominant|alacrima, congenital MESH:C566307|OMIM:103420 owl:Class MONDO:0009804 biolink:NamedThing osteogenesis imperfecta type 3 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). tmpak2llvmy_mondo_relaxed.owl Oi3|osteogenesis imperfecta, type 3|osteogenesis imperfecta, progressively deforming, with normal sclerae|severe osteogenesis imperfecta|OI, type 3|progressively deforming OI|progressive deforming osteogenesis imperfecta|OI type III|osteogenesis imperfecta, type III|progressively deforming osteogenesis imperfecta with normal sclera|osteogenesis imperfecta type 3|osteogenesis imperfecta, progressively deforming with normal sclerae|osteogenesis imperfecta type III|OI3|OI type 3 Orphanet:216812|ICD10:Q78.0|UMLS:C0268362|GARD:0008695|DOID:0110339|MESH:C536044|NCIT:C99002|SCTID:385483009|OMIM:259420 owl:Class MONDO:0020423 biolink:NamedThing stenosis or atrophy of the coronary ostium tmpak2llvmy_mondo_relaxed.owl stenosis or atresia of the coronary ostium|coronary ostial stenosis or atresia Orphanet:99087|ICD10:Q24.5 owl:Class MONDO:0003759 biolink:NamedThing childhood ovarian yolk sac tumor A yolk sac tumor that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood ovarian yolk sac tumor|ovary childhood endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|pediatric ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac tumor|childhood ovarian endodermal sinus tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian endodermal sinus tumor|pediatric ovarian yolk Sac neoplasm DOID:6083|UMLS:C1332993|NCIT:C6551 owl:Class MONDO:0003400 biolink:NamedThing childhood endodermal sinus tumor A yolk sac tumor that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood endodermal sinus tumor|childhood yolk Sac neoplasm|pediatric yolk Sac tumor|pediatric endodermal sinus neoplasm|pediatric yolk Sac neoplasm|childhood endodermal sinus neoplasm|childhood yolk Sac tumor DOID:5342|NCIT:C27364|UMLS:C1333016 owl:Class GO:1903715 biolink:NamedThing regulation of aerobic respiration Any process that modulates the frequency, rate or extent of aerobic respiration. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009205 biolink:NamedThing lateral nasal process mesenchyme Mesenchyme that is part of a lateral nasal prominence. tmpak2llvmy_mondo_relaxed.owl mesenchyme of latero-nasal process owl:Class UBERON:0006964 biolink:NamedThing pars distalis of adenohypophysis The distal part of adenohypophysis: the part that makes up the main body of the gland. tmpak2llvmy_mondo_relaxed.owl pars distalis|pars anterior of adenohypophysis|pars glandularis of adenohypophysis|pars distalis of anterior lobe of pituitary gland|distal part of hypophysis|pars distalis (hypophysis)|pars distalis adenohypophysis|pars distalis (glandula pituitaria)|pars glandularis|DHP|pars anterior|pars distalis adenohypophyseos|anterior lobe|distal part of the hypophysis|pars distalis lobi anterioris hypophyseos owl:Class UBERON:0019315 biolink:NamedThing meibum an oily substance that prevents evaporation of the eye's tear film tmpak2llvmy_mondo_relaxed.owl tarsal gland secretion owl:Class GO:0005342 biolink:NamedThing organic acid transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022857 biolink:NamedThing transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl substrate-specific transporter activity|uptake permease activity|substrate-specific transmembrane transporter activity|uptake transmembrane transporter activity owl:Class MONDO:0019010 biolink:NamedThing congenital isolated hyperinsulinism Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia familial|hyperinsulinism familial with pancreatic nesidioblastosis|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinism congenital|chi|PHHI|congenital hyperinsulinism|hypoglycemia hyperinsulinemic of infancy Orphanet:657|NCIT:C122923|GARD:0003947|ICD10:E16.1 owl:Class MONDO:0006521 biolink:NamedThing acneiform dermatitis Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). tmpak2llvmy_mondo_relaxed.owl Rash acneiform UMLS:C0234894|DOID:4399|NCIT:C35277|EFO:1000662 owl:Class MONDO:0010441 biolink:NamedThing CK syndrome tmpak2llvmy_mondo_relaxed.owl CK syndrome|mental retardation, X-linked, with thin body habitus and cortical malformation|intellectual disability, X-linked, with thin body habitus and cortical malformation|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome OMIM:300831|UMLS:C3151781|Orphanet:251383 owl:Class UBERON:0001258 biolink:NamedThing neck of urinary bladder The constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra[MP]. tmpak2llvmy_mondo_relaxed.owl urinary bladder neck|neck of bladder|collum vesicae|bladder neck|cervix vesicae|vesical neck|cervix vesicae urinariae owl:Class MONDO:0005213 biolink:NamedThing uterine carcinoma A carcinoma involving a uterus. tmpak2llvmy_mondo_relaxed.owl uterus carcinoma|carcinoma of uterus SCTID:446022000|EFO:0002919|UMLS:C2960452 owl:Class MONDO:0044354 biolink:NamedThing Rosai-Dorfman disease Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia. tmpak2llvmy_mondo_relaxed.owl Destombes-Rosaï-Dorfman disease|RosaC/-Dorfman-Destombes disease|sinus histiocytosis with massive lymphadenopathy|Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|SHML|Destombes-RosaC/-Dorfman disease Orphanet:158014|ICD10:D76.3|MedDRA:10063397|ONCOTREE:RDD owl:Class HGNC:24268 biolink:NamedThing ASCC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015812 biolink:NamedThing gamma-aminobutyric acid transport The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl 4-aminobutanoate transport|4-aminobutyrate transport|GABA transport owl:Class GO:0046942 biolink:NamedThing carboxylic acid transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004506 biolink:NamedThing microscopic breast papilloma A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. tmpak2llvmy_mondo_relaxed.owl microscopic breast papilloma|peripheral breast papilloma DOID:8225|UMLS:C1335390|NCIT:C36088 owl:Class MONDO:0019632 biolink:NamedThing Lyme disease Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. tmpak2llvmy_mondo_relaxed.owl Borrelia burgdorferi infection|Bannworth's syndrome|Borrelia|Borreliella burgdorferi caused disease or disorder|Lyme borreliosis|Borreliella burgdorferi disease or disorder|Bannwarth syndrome|Lyme neuroborreliosis|neurological Lyme disease|neuroborreliosis|Lyme disease|Borreliella burgdorferi infectious disease ICD10:A69.2|NCIT:C45161|GARD:0012073|DOID:11729|MESH:D008193|ICD9:088.81|SCTID:48982009|UMLS:C0024198|ICD10:A69.20|MedDRA:10025169|EFO:0008510|Orphanet:91546 owl:Class UBERON:0001636 biolink:NamedThing posterior cerebral artery The posterior cerebral artery (PCA) is one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain in human anatomy]. It arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery (PCommA). [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria cerebri posterior owl:Class UBERON:0035489 biolink:NamedThing branch of basilar artery tmpak2llvmy_mondo_relaxed.owl basilar arterial branch owl:Class MONDO:0009415 biolink:NamedThing hypoglycemia, leucine-induced tmpak2llvmy_mondo_relaxed.owl leucine-sensitive hypoglycemia of infancy|hypoglycemia, leucine-induced|hypoglycemia leucine-induced|familial infantile hypoglycemia precipitated by leucine|hypoglycemia leucine induced|LIH EFO:0006856|SCTID:62151007|GARD:0009915|OMIM:240800|MESH:C537150|UMLS:C0271714 owl:Class NCBITaxon:1903411 biolink:NamedThing Yersiniaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:27620848 ncbi_taxonomy owl:Class NCBITaxon:91347 biolink:NamedThing Enterobacterales tmpak2llvmy_mondo_relaxed.owl Enterobacteriales|gamma-3 proteobacteria|Enterobacteriaceae group|Enterobacteriaceae and related endosymbionts PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class OBO:CHR_9606-chr7q11 biolink:NamedThing chr7q11 (Human) tmpak2llvmy_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class GO:0001868 biolink:NamedThing regulation of complement activation, lectin pathway Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation. tmpak2llvmy_mondo_relaxed.owl regulation of complement cascade, lectin pathway owl:Class HGNC:22947 biolink:NamedThing NLRP7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018229 biolink:NamedThing Stevens-Johnson syndrome Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. tmpak2llvmy_mondo_relaxed.owl Stevens Johnson syndrome|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Stevens-Johnson syndrome, susceptibility to|erythema multiforme Major|Dermatostomatitis, Stevens Johnson type|severe cutaneous adverse reaction, susceptibility to|toxic Epidermal necrolysis, susceptibility to Orphanet:36426|SCTID:73442001|EFO:0004276|MESH:D013262|ICD9:695.12|ICD10:L51.1|MedDRA:10042033|ICD9:695.15|NCIT:C79484|OMIM:608579|DOID:0050426|UMLS:C0038325|ICD9:695.13|ICD10:L51.2|GARD:0007700 owl:Class MONDO:0019810 biolink:NamedThing toxic epidermal necrolysis Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. tmpak2llvmy_mondo_relaxed.owl SJS-TEN|TEN|Lyell's syndrome|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|toxic epidermolysis|Lyell syndrome SCTID:23067006|ICD9:695.15|EFO:0004775|ICD10:L51.2|MedDRA:10044223|NCIT:C79777|GARD:0007743|Orphanet:95455|UMLS:C0014518 https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis owl:Class HGNC:11582 biolink:NamedThing TBCE tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099123 biolink:NamedThing somato-dendritic dopamine secretion The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron. tmpak2llvmy_mondo_relaxed.owl STD DA release|somatodendritic dopamine release|STD dopamine release owl:Class NCBITaxon:2732005 biolink:NamedThing Bamfordvirae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0099124 biolink:NamedThing axonal dopamine secretion The regulated release of dopamine from an axon. tmpak2llvmy_mondo_relaxed.owl axonal dopamine release|axonal DA release owl:Class MONDO:0012599 biolink:NamedThing hypertension, essential, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, 8|HYT8 OMIM:611014 owl:Class MONDO:0013913 biolink:NamedThing hypogonadotropic hypogonadism 11 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in TACR3|TACR3 hypogonadotropic hypogonadism|HH11|hypogonadotropic hypogonadism 11 with or without anosmia UMLS:C3553844|DOID:0090071|OMIM:614840|ICD10:E23.0 owl:Class UBERON:0003070 biolink:NamedThing trigeminal placode complex A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion. tmpak2llvmy_mondo_relaxed.owl trigeminal V placode|profundus placode|trigeminal placodes|profundus V placode|trigeminal placode owl:Class UBERON:0003067 biolink:NamedThing dorsolateral placode Lateral neurogenic placodes positioned dorsal of the epibranchial placodes. tmpak2llvmy_mondo_relaxed.owl dorsolateral placodes owl:Class MONDO:0007677 biolink:NamedThing hyperglycinuria tmpak2llvmy_mondo_relaxed.owl hyperglycinuria|Glycinuria with or without oxalate nephrolithiasis|Iminoglycinuria type 2|Glycinuria with or without oxalate urolithiasis|hyperglycinuria (disease) hyperglycinuria (disease) HP:0003108|MESH:C563009|UMLS:C0543541|OMIM:138500 owl:Class MONDO:0007690 biolink:NamedThing aromatase excess syndrome Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. tmpak2llvmy_mondo_relaxed.owl AEXS|increased aromatase activity|familial hyperestrogenism|gynecomastia, hereditary|hereditary prepubertal gynecomastia|gynecomastia, familial, due to increased aromatase activity|aromatase activity, increased|aromatase excess syndrome MESH:C000591739|SCTID:709075008|OMIM:139300|DOID:0090122|GARD:12949|UMLS:C1970109|ICD9:259.8|Orphanet:178345|ICD10:E30.1|GARD:0012494 https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome owl:Class MONDO:0010174 biolink:NamedThing Valinemia Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. tmpak2llvmy_mondo_relaxed.owl hypervalinemia|Valinemia|valine transaminase deficiency UMLS:C0268573|OMIM:277100|MESH:C536524|SCTID:47719001|GARD:0007845 https://rarediseases.info.nih.gov/diseases/7845/valinemia owl:Class MONDO:0003846 biolink:NamedThing viral esophagitis Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. tmpak2llvmy_mondo_relaxed.owl viral esophagitis|Viruses caused esophagitis (disease)|Viruses esophagitis (disease) UMLS:C0341110|DOID:6297|SCTID:235603003|NCIT:C27108 owl:Class MONDO:0007621 biolink:NamedThing floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. tmpak2llvmy_mondo_relaxed.owl FHS|floating-Harbor syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|FLHS|floating-HARBOR syndrome|Pelletier-Leisti syndrome GARD:0006455|SCTID:312214005|DOID:0111358|ICD10:Q87.8|Orphanet:2044|MESH:C537062|OMIM:136140|ICD9:759.89|UMLS:C0729582 https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome owl:Class MONDO:0001681 biolink:NamedThing diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. tmpak2llvmy_mondo_relaxed.owl ICD9:032.84|SCTID:48278001|ICD10:A36.85|UMLS:C0152954|DOID:13306 owl:Class GO:0061179 biolink:NamedThing negative regulation of insulin secretion involved in cellular response to glucose stimulus Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpak2llvmy_mondo_relaxed.owl negative regulation of insulin secretion involved in cellular response to glucose|negative regulation of insulin secretion in response to glucose owl:Class MONDO:0011640 biolink:NamedThing genitopatellar syndrome Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. tmpak2llvmy_mondo_relaxed.owl absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|GTPTS|GENITOPATELLAR syndrome|genitopatellar syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability ICD9:759.89|MESH:C565255|GARD:0010994|UMLS:C1853566|OMIM:606170|ICD10:Q87.8|Orphanet:85201|SCTID:702367005 https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome owl:Class NCBITaxon:11723 biolink:NamedThing Simian immunodeficiency virus tmpak2llvmy_mondo_relaxed.owl Chimpanzee immunodeficiency virus|Chimpanzee immunodeficiency virus (SIV(CPZ))|simian immunodeficiency viruses SIV|simian immunodeficiency virus SIV|CIV|simian immunodeficiency virus, SIV|SIV|Simian immunodeficiency virus SIVcpz GC_ID:1 NCBITaxon:11677|NCBITaxon:11740|NCBITaxon:11739 ncbi_taxonomy owl:Class NCBITaxon:11646 biolink:NamedThing Lentivirus tmpak2llvmy_mondo_relaxed.owl Lentivirinae GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010881 biolink:NamedThing limb cartilage element A skeletal element that is part of a limb and composed of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017232 biolink:NamedThing recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. tmpak2llvmy_mondo_relaxed.owl IDMDC Orphanet:280384 owl:Class MONDO:0003958 biolink:NamedThing childhood central nervous system immature teratoma An immature teratoma that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric central nervous system immature teratoma|central nervous system immature teratoma of childhood|childhood central nervous system immature teratoma UMLS:C1332954|NCIT:C27405|DOID:6654 owl:Class MONDO:0030967 biolink:NamedThing deafness, congenital, and adult-onset progressive leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl DEAPLE OMIM:619196 owl:Class MONDO:0033492 biolink:NamedThing Coffin-Siris syndrome 6 tmpak2llvmy_mondo_relaxed.owl Coffin-Siris syndrome 6|COFFIN-SIRIS syndrome 6|CSS6 OMIM:617808|DOID:0080297|UMLS:CN696018 owl:Class MONDO:0002708 biolink:NamedThing retinitis Inflammation of the retina. tmpak2llvmy_mondo_relaxed.owl retina inflammation|inflammation of retina SCTID:399463004|ICD10:H30.9|NCIT:C115993|MESH:D012173|UMLS:C0035333|DOID:3612 owl:Class MONDO:0009933 biolink:NamedThing congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. tmpak2llvmy_mondo_relaxed.owl lymphangiomatosis, pulmonary|lymphangiomatosis pulmonary|pulmonary lymphangiomatosis|lymphangiectasia pulmonary congenital|congenital pulmonary lymphangiectasis|CPL|lymphangiectasia, pulmonary, congenital|pulmonary cystic lymphangiectasis UMLS:C1849554|NCIT:C99034|Orphanet:2414|OMIM:265300|GARD:0009900|SCTID:45142002|MESH:C537727|ICD10:Q33.8 https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia owl:Class GO:0005215 biolink:NamedThing transporter activity Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. tmpak2llvmy_mondo_relaxed.owl carrier owl:Class CL:0002596 biolink:NamedThing smooth muscle cell of the carotid artery Smooth muscle cell of the carotid artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:56Z cell owl:Class MONDO:0008752 biolink:NamedThing Alexander disease Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. tmpak2llvmy_mondo_relaxed.owl ALXDRD|megalencephaly in infancy accompanied by progressive spasticity and dementia|alexanders leukodystrophy|AxD|Alexander's disease|Alexander disease ICD10:E75.2|SCTID:81854007|OMIM:203450|GARD:0005774|UMLS:C0270726|DOID:4252|Orphanet:58|MESH:D038261|NCIT:C84545 https://rarediseases.info.nih.gov/diseases/5774/alexander-disease owl:Class MONDO:0019557 biolink:NamedThing chilblain lupus A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. tmpak2llvmy_mondo_relaxed.owl Hutchinson lupus|CHLE ICD10:L93.2|UMLS:CN239336|MedDRA:10025141|UMLS:C0024145|DOID:0060386|Orphanet:90280 Editor note: ORDO classifies as genetic and has a separate subclass for familiar form owl:Class MONDO:0001919 biolink:NamedThing cystoid macular retinal degeneration tmpak2llvmy_mondo_relaxed.owl cystoid macular degeneration of retina UMLS:C0154850|ICD10:H35.35|SCTID:14046000|ICD9:362.53|DOID:14245 owl:Class OBO:CHR_9606-chr19p13.13 biolink:NamedThing chr19p13.13 (Human) tmpak2llvmy_mondo_relaxed.owl 13800000 12600000 hg38 owl:Class MONDO:0011230 biolink:NamedThing ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. tmpak2llvmy_mondo_relaxed.owl ossification of Posterior longitudinal ligament|ossification of the POSTERIOR longitudinal ligament of spine|OPLL DOID:0060887|EFO:0005895|UMLS:C1865343|MESH:C537143|SCTID:90448008|OMIM:602475|GARD:0009699|NCIT:C84975 owl:Class HGNC:21150 biolink:NamedThing RNF125 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022999 biolink:NamedThing distichiasis heart congenital anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0001890 https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies owl:Class MONDO:0010703 biolink:NamedThing ornithine carbamoyltransferase deficiency Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. tmpak2llvmy_mondo_relaxed.owl OTCD|deficiency of citrulline phosphorylase|OCT deficiency|ornithine carbamoyltransferase deficiency|valproate sensitivity|ornithine carbamoyltransferase deficiency disease|ornithine transcarbamylase deficiency, hyperammonemia due to|ornithine transcarbamylase deficiency|OTC deficiency SCTID:80908008|MESH:D020163|ICD10:E72.4|NCIT:C84957|OMIM:311250|Orphanet:664|GARD:0008391|DOID:9271|UMLS:C0268542|EFO:0007409|MedDRA:10052450 owl:Class MONDO:0001119 biolink:NamedThing premature menopause Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. tmpak2llvmy_mondo_relaxed.owl menopause praecox|menopause - premature|premature menopause|early menopause|premature ovarian failure|POF ICD10:E28.319|UMLS:C0025322|ICD10:E28.31|ICD9:256.31|DOID:10787|ICD9:256.39|SCTID:237788002|MESH:D008594|NCIT:C80099 owl:Class MONDO:0005387 biolink:NamedThing primary ovarian failure Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. tmpak2llvmy_mondo_relaxed.owl primary ovarian failure|premature menopause|primary ovarian insufficiency|premature ovarian failure|female hypergonadotropic hypogonadism|primary female hypogonadism|hypergonadotropic hypogonadism (female)|hypergonadotrophic ovarian failure|premature ovarian insufficiency|hypergonadotropic hypogonadism DOID:5426|EFO:0004266|SCTID:370999003|UMLS:C0085215|ICD9:256.39|NCIT:C113352|ICD10:E28.3|SCTID:65846009|ICD9:253.4|MESH:D016649 owl:Class MONDO:0001813 biolink:NamedThing squamous blepharitis tmpak2llvmy_mondo_relaxed.owl SCTID:58912008|ICD9:373.02|MEDGEN:509829|ICD10:H01.02|ICD10:H01.021-H01.029|DOID:13825|UMLS:C0155174 owl:Class CL:0002252 biolink:NamedThing epithelial cell of esophagus An epithelial cell of the esophagus. tmpak2llvmy_mondo_relaxed.owl FMA:63071 tmeehan 2010-09-08T09:28:20Z CL:1000402 cell owl:Class GO:1902098 biolink:NamedThing calcitriol binding Binding to calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3. tmpak2llvmy_mondo_relaxed.owl 1,25-dihydroxyvitamin D3 binding|1alpha,25(OH)2 vitamin D3 binding|1alpha,25-dihydroxyvitamin D3 binding|hormonally active vitamin D3 binding|1,25-dihydroxycholecalciferol binding|1alpha,25(OH)2D3 binding|1alpha,25-dihydroxycholecalciferol binding owl:Class GO:0005747 biolink:NamedThing mitochondrial respiratory chain complex I A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045271 biolink:NamedThing respiratory chain complex I Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. tmpak2llvmy_mondo_relaxed.owl electron transport complex I|NADH dehydrogenase complex (ubiquinone)|NADH-Q oxidoreductase complex|NADH dehydrogenase (ubiquinone) complex owl:Class GO:0034255 biolink:NamedThing regulation of urea metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. tmpak2llvmy_mondo_relaxed.owl regulation of urea metabolism owl:Class HGNC:12631 biolink:NamedThing USP8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016619 biolink:NamedThing autosomal recessive hypohidrotic ectodermal dysplasia A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. tmpak2llvmy_mondo_relaxed.owl hypohidrotic ectodermal dysplasia, autosomal recessive|autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia autosomal recessive|AR-HED|anhidrotic ectodermal dysplasia, autosomal recessive GARD:0002057|NCIT:C84580|ICD10:Q82.4|SCTID:27025001|Orphanet:248|MESH:D053360|UMLS:C0406702 https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive owl:Class CHEBI:33465 biolink:NamedThing elemental pnictogen tmpak2llvmy_mondo_relaxed.owl elemental pnictogen|elemental pnictogens owl:Class MONDO:0016540 biolink:NamedThing congenital secondary polycythemia tmpak2llvmy_mondo_relaxed.owl congenital secondary erythrocytosis Orphanet:238536|ICD10:D75.1 owl:Class MONDO:0012089 biolink:NamedThing ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. tmpak2llvmy_mondo_relaxed.owl ichthyosis-prematurity syndrome|IPS|ichthyosis prematurity syndrome|ichthyosis congenita 4|idiopathic pneumonia syndrome|congenital ichthyosis type 4|ichthyosis congenita IV SCTID:12381000132107|MESH:C536271|OMIM:608649|UMLS:C1504431|Orphanet:88621|UMLS:C1837610|NCIT:C62590|GARD:0009886 https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome owl:Class NCIT:C7057 biolink:NamedThing Disease, Disorder or Finding tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014389 biolink:NamedThing gustatory papilla of tongue A papilla that contain taste buds, including the fungiform, foliate, and circumvallate papillae. tmpak2llvmy_mondo_relaxed.owl taste papillae|taste papilla|gustatory papilla|gustatory papillae owl:Class UBERON:0001726 biolink:NamedThing papilla of tongue tmpak2llvmy_mondo_relaxed.owl tongue papilla|lingual papilla owl:Class HGNC:6442 biolink:NamedThing KRT5 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001173 biolink:NamedThing plant seed food product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011487 biolink:NamedThing Huntington disease-like 3 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. tmpak2llvmy_mondo_relaxed.owl Huntington disease-like type 3|HDL3|Huntington disease-like 3|Huntington disease-like neurodegenerative disorder, autosomal recessive ICD10:G10|UMLS:C1858114|MESH:C565747|OMIM:604802|Orphanet:157946 owl:Class CL:0000027 biolink:NamedThing smooth muscle cell neural crest derived A smooth muscle cell derived from the neural crest. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0032623 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 18 tmpak2llvmy_mondo_relaxed.owl MC1DN18|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 OMIM:618240 owl:Class MONDO:0020167 biolink:NamedThing malposition of external canthus tmpak2llvmy_mondo_relaxed.owl Orphanet:98576|ICD10:Q10.3 owl:Class MONDO:0020163 biolink:NamedThing canthal anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98572 owl:Class MONDO:0001893 biolink:NamedThing spinal cord melanoma A melanoma (disease) that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord melanoma (disease)|spinal cord melanoma|melanoma of the spinal cord|melanoma of spinal cord|melanoma (disease) of spinal cord DOID:14151|NCIT:C5158|UMLS:C1336045 owl:Class MONDO:0015757 biolink:NamedThing lymphoid hemopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:171898 owl:Class UBERON:0000382 biolink:NamedThing apocrine sweat gland Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP]. tmpak2llvmy_mondo_relaxed.owl glandula sudorifera apocrina owl:Class MONDO:0019013 biolink:NamedThing non-histaminic angioedema Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpak2llvmy_mondo_relaxed.owl angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema SCTID:41291007|UMLS:CN227560|ICD9:995.1|Orphanet:658 owl:Class MONDO:0019068 biolink:NamedThing congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. tmpak2llvmy_mondo_relaxed.owl neonatal glomerulopathy due to neprilysin alloimmunization|fetomaternal alloimmunization with antenatal glomerulopathies|neonatal glomerulopathy due to Neprilysin alloimmunization|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|FMAIG UMLS:C4511239|SCTID:725592009|Orphanet:69063|ICD10:P96.0 owl:Class NCBITaxon:5794 biolink:NamedThing Apicomplexa tmpak2llvmy_mondo_relaxed.owl apicomplexans GC_ID:1 ncbi_taxonomy owl:Class CL:0002325 biolink:NamedThing mammary alveolar cell The milk-producing cell of the alveolar unit that emerges during pregnancy. tmpak2llvmy_mondo_relaxed.owl epithelial cell of lactiferous gland|luminal cell of alveolus of lactiferous gland FMA:79866|FMA:74506 tmeehan 2010-09-20T01:30:57Z CL:1000476|CL:0002230 cell owl:Class CL:1001586 biolink:NamedThing mammary gland glandular cell Glandular cell of mammary epithelium. Example: glandular cells of large and intermediate ducts, glandular cells in terminal ducts. tmpak2llvmy_mondo_relaxed.owl mammary glandular cell|breast glandular cells|breast glandular cell CALOHA:TS-1272 owl:Class NCBITaxon:53550 biolink:NamedThing Culicini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9922 biolink:NamedThing Capra tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9963 biolink:NamedThing Caprinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011107 biolink:NamedThing congenital hypotrichosis with juvenile macular dystrophy Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. tmpak2llvmy_mondo_relaxed.owl juvenile macular dystrophy and congenital hypotrichosis|HJMD|juvenile macular degeneration and hypotrichosis|hypotrichosis with juvenile macular dystrophy|hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular degeneration|hypotrichosis, congenital, with juvenile macular dystrophy|Hjmd UMLS:C1832162|MESH:C537698|GARD:0003066|OMIM:601553|ICD10:Q84.0|Orphanet:1573|DOID:0110711 owl:Class MONDO:0006550 biolink:NamedThing fibroepithelial polyp of urethra A benign polypoid lesion of mesodermal origin that arises from the urethra. tmpak2llvmy_mondo_relaxed.owl skin tag of urethra|fibroepithelial polyp of urethra|urethral fibroepithelial polyp|urethra fibroepithelial polyp|urethra skin tag|fibroepithelial polyp of the urethra EFO:1000700|NCIT:C6170|UMLS:C1336884|DOID:8108 owl:Class MONDO:0019901 biolink:NamedThing non-distal monosomy 20q tmpak2llvmy_mondo_relaxed.owl non-telomeric monosomy 20q|non-distal monosomy type 20q|non-distal deletion 20q Orphanet:96164|ICD10:Q93.5 owl:Class MONDO:0016918 biolink:NamedThing partial deletion of the long arm of chromosome 20 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 20q|partial monosomy of the long arm of chromosome 20|partial deletion of the long arm of chromosome type 20|partial monosomy of chromosome 20q Orphanet:262164|ICD10:Q93.5 owl:Class MONDO:0009097 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal recessive Autosomal recessive form of persistent hyperplastic primary vitreous. tmpak2llvmy_mondo_relaxed.owl retinal nonattachment, nonsyndromic congenital|PHPVAR|retinal nonattachment and falciform detachment|autosomal recessive persistent hyperplastic primary vitreous|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive UMLS:C1969783|OMIM:221900|Orphanet:300337 owl:Class MONDO:0000726 biolink:NamedThing idiopathic scoliosis A scoliosis with no known cause. tmpak2llvmy_mondo_relaxed.owl UMLS:CN241052|SCTID:203639008|DOID:0060250 owl:Class MONDO:0015197 biolink:NamedThing aneurysm of sinus of Valsalva Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. tmpak2llvmy_mondo_relaxed.owl sinus of Valsalva aneurysm|SVA SCTID:54160000|ICD9:747.29|GARD:0000670|UMLS:CN197542|ICD10:Q25.4|Orphanet:1054 https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva owl:Class MONDO:0016880 biolink:NamedThing partial deletion of chromosome 18 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 18|partial monosomy of chromosome 18 Orphanet:261836|ICD10:Q93.5 owl:Class MONDO:0005203 biolink:NamedThing ischemia reperfusion injury Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. tmpak2llvmy_mondo_relaxed.owl EFO:0002687|PMID:10685060|MESH:D015427 owl:Class MONDO:0012824 biolink:NamedThing hypomyelinating leukodystrophy 4 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. tmpak2llvmy_mondo_relaxed.owl HSPD1 leukodystrophy|MitCHAP60 disease|leukodystrophy, hypomyelinating, type 4|leukodystrophy caused by mutation in HSPD1|hypomyelinating leukodystrophy type 4|HLD4|mitochondrial HSP60 chaperonopathy|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|Mitchap60 disease|leukodystrophy, hypomyelinating, 4|mitochondrial Hsp60 chaperonopathy Orphanet:280288|OMIM:612233|MESH:C567390|DOID:0060789|UMLS:C2677109|ICD10:E75.2 owl:Class MONDO:0017226 biolink:NamedThing Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). tmpak2llvmy_mondo_relaxed.owl PMLD ICD10:E75.2|SCTID:717042001|GARD:0012300|Orphanet:280270 https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease owl:Class MONDO:0019649 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis tmpak2llvmy_mondo_relaxed.owl idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis UMLS:CN206521|ICD10:N04.1|Orphanet:93206 owl:Class MONDO:0019067 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. tmpak2llvmy_mondo_relaxed.owl Orphanet:69061|ICD10:N04.0 owl:Class PATO:0001406 biolink:NamedThing binucleate A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001908 biolink:NamedThing multinucleate A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016012 biolink:NamedThing diethylstilbestrol syndrome Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. tmpak2llvmy_mondo_relaxed.owl antenatal diethylstilbestrol exposure|DES embryofetopathy|fetal diethylstilbestrol syndrome|DES syndrome|Distilbene embryofetopathy|diethylstilbestrol embryofetopathy GARD:0001859|SCTID:716005004|Orphanet:1916|MedDRA:10012780|ICD10:Q86.8|UMLS:C0853695|NCIT:C113422 https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome owl:Class MONDO:0016811 biolink:NamedThing renal tubulopathy-encephalopathy-liver failure syndrome Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. tmpak2llvmy_mondo_relaxed.owl UMLS:CN202065|ICD10:E88.8|Orphanet:254902 owl:Class MONDO:0019872 biolink:NamedThing distal trisomy 3p Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. tmpak2llvmy_mondo_relaxed.owl trisomy 3pter|distal trisomy type 3p|distal duplication 3p|telomeric duplication 3p SCTID:764519007|ICD10:Q92.3|Orphanet:96071 owl:Class MONDO:0016940 biolink:NamedThing partial duplication of the short arm of chromosome 3 Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 3p duplication|partial trisomy 3p|3p duplication|partial trisomy of the short arm of chromosome 3|partial duplication of chromosome 3p|3p trisomy|partial duplication of the short arm of chromosome type 3|trisomy 3p|Duplication 3p|partial trisomy of chromosome 3p MESH:C536811|GARD:0005343|Orphanet:262707 owl:Class CHEBI:28938 biolink:NamedThing ammonium An onium cation obtained by protonation of ammonia. tmpak2llvmy_mondo_relaxed.owl NH4+|azanium|ammonium cation|[NH4](+)|NH4(+)|ammonium|ammonium ion|Ammonium(1+) owl:Class OBO:CHR_9606-chr20p biolink:NamedThing chr20p (Human) tmpak2llvmy_mondo_relaxed.owl 28100000 0 hg38 owl:Class NCBITaxon:5690 biolink:NamedThing Trypanosoma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694002 biolink:NamedThing Betacoronavirus tmpak2llvmy_mondo_relaxed.owl Coronavirus|Coronavirus group 2|Group 2 species GC_ID:1 NCBITaxon:156439 ncbi_taxonomy owl:Class NCBITaxon:2501931 biolink:NamedThing Orthocoronavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032594 biolink:NamedThing intellectual developmental disorder and retinitis pigmentosa; IDDRP tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA|IDDRP OMIM:618195 owl:Class GO:1900046 biolink:NamedThing regulation of hemostasis Any process that modulates the frequency, rate or extent of hemostasis. tmpak2llvmy_mondo_relaxed.owl owl:Class OBI:0100026 biolink:NamedThing organism A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. tmpak2llvmy_mondo_relaxed.owl WEB: http://en.wikipedia.org/wiki/Organism organism owl:Class MONDO:0022900 biolink:NamedThing athyreotic congenital hypothyroidism Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) tmpak2llvmy_mondo_relaxed.owl cretinism athyreotic GARD:0001610 https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic owl:Class MONDO:0015778 biolink:NamedThing syndromic hypothyroidism A hypothyroidism that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic hypothyroidism|syndrome associated with hypothyroidism Orphanet:177107|UMLS:CN226739 owl:Class MONDO:0016088 biolink:NamedThing hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. tmpak2llvmy_mondo_relaxed.owl HPRT1 deficiency|HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency SCTID:124275001|GARD:0002943|Orphanet:206428|ICD10:E79.8|ICD9:277.6 owl:Class NCBITaxon:68459 biolink:NamedThing Giardiinae tmpak2llvmy_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:5739 biolink:NamedThing Hexamitidae tmpak2llvmy_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class CHEBI:49168 biolink:NamedThing dopa A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring. tmpak2llvmy_mondo_relaxed.owl 2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|(+-)-3-(3,4-dihydroxyphenyl)alanine|(+-)-dopa|(R,S)-dopa|DL-dihydroxyphenylalanine|3-hydroxytyrosine|DL-dioxyphenylalanine|DL-beta-(3,4-dihydroxyphenyl)alanine|3',4'-dihydroxyphenylalanine|dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|3-hydroxy-DL-tyrosine|beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|dopa|DL-3,4-dopa owl:Class MONDO:0019580 biolink:NamedThing papular mucinosis of infancy Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. tmpak2llvmy_mondo_relaxed.owl cutaneous mucinosis of infancy UMLS:C4273966|Orphanet:90395|ICD10:L98.5|SCTID:717259002 owl:Class MONDO:0002933 biolink:NamedThing osteosclerosis Abnormally high bone density. tmpak2llvmy_mondo_relaxed.owl NCIT:C41236|SCTID:49347007|MESH:D010026|UMLS:C0029464|DOID:4254|ICD10:Q78.2 owl:Class UBERON:0010071 biolink:NamedThing layer of tympanic membrane tmpak2llvmy_mondo_relaxed.owl tympanic membrane layer owl:Class MONDO:0012594 biolink:NamedThing complement factor I deficiency tmpak2llvmy_mondo_relaxed.owl complement Factor 1 deficiency|complement factor I deficiency|CFID|complement component 3 inactivator deficiency|immunodeficiency with factor I anomaly|C3 inactivator deficiency Orphanet:200418|ICD10:D84.1|MESH:C572568|UMLS:C3463916|DOID:0050419|OMIM:610984 owl:Class GO:2000847 biolink:NamedThing negative regulation of corticosteroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl negative regulation of corticosteroid secretion owl:Class ECTO:9001687 biolink:NamedThing exposure to micronutrient An exposure to micronutrient. tmpak2llvmy_mondo_relaxed.owl exposure to micronutrient owl:Class HGNC:12442 biolink:NamedThing TYR tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001579 biolink:NamedThing cerebral cortex glial cell Glial cell of cerebral cortex. tmpak2llvmy_mondo_relaxed.owl brain cortex glial cell|cerebral cortex glial cells|cerebrum cortex glial cell CALOHA:TS-1256 owl:Class GO:1901362 biolink:NamedThing organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. tmpak2llvmy_mondo_relaxed.owl organic cyclic compound formation|organic cyclic compound synthesis|organic cyclic compound biosynthesis|organic cyclic compound anabolism owl:Class MONDO:0014938 biolink:NamedThing aniridia 3 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. tmpak2llvmy_mondo_relaxed.owl aniridia type 3|TRIM44 isolated aniridia|aniridia 3; AN3|isolated aniridia caused by mutation in TRIM44|AN3|aniridia 3 OMIM:617142 owl:Class MONDO:0007119 biolink:NamedThing isolated aniridia Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. tmpak2llvmy_mondo_relaxed.owl nonsyndromic aniridia|aniridia without systemic involvement ICD10:Q13.1|Orphanet:250923|OMIMPS:106210 owl:Class GO:0051339 biolink:NamedThing regulation of lyase activity Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpak2llvmy_mondo_relaxed.owl lyase regulator owl:Class UBERON:0013515 biolink:NamedThing subdivision of oviduct A section through the tube or network of tubes that connects the ovaries to the outside of the body. tmpak2llvmy_mondo_relaxed.owl zone of uterine tube|uterine tube zone|subdivision of fallopian tube|subdivision of oviduct|subdivision of uterine tube owl:Class MONDO:0018168 biolink:NamedThing primary non-essential cutis verticis gyrata tmpak2llvmy_mondo_relaxed.owl UMLS:CN204616|ICD10:Q82.8|Orphanet:357225 owl:Class MONDO:0020153 biolink:NamedThing cryptophthalmia A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. tmpak2llvmy_mondo_relaxed.owl cryptophthalmos GARD:0010505|DOID:0111716|ICD9:743.06|SCTID:400951005|Orphanet:98562|NCIT:C124520 owl:Class MONDO:0001542 biolink:NamedThing common peroneal nerve lesion A peripheral nerve lesion that involves the common fibular nerve. tmpak2llvmy_mondo_relaxed.owl peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion UMLS:C0270909|ICD10:G57.3|DOID:12527|ICD9:355.3|SCTID:399107008|ICD10:G57.30 owl:Class MONDO:0015353 biolink:NamedThing neuronopathy, distal hereditary motor, type 5A tmpak2llvmy_mondo_relaxed.owl neuronopathy, distal hereditary motor, type VA|distal spinal muscular atrophy type 5|neuropathy, distal hereditary motor, type 5A|HMN 5A|spinal muscular atrophy, distal, with upper limb predominance|spinal muscular atrophy, distal, type 5|neuronopathy, distal hereditary motor, type 5|dHMN 5A|distal HMN V|distal hereditary motor neuropathy type V|dHMN5|neuronopathy, distal hereditary motor, type 5A|spinal muscular atrophy, distal, type 5A|HMN5A OMIM:600794|ICD10:G12.2|UMLS:C1833308|DOID:0111204 owl:Class MONDO:0015362 biolink:NamedThing autosomal dominant distal hereditary motor neuropathy Autosomal dominant form of distal hereditary motor neuropathy. tmpak2llvmy_mondo_relaxed.owl autosomal dominant distal spinal muscular atrophy|distal hereditary motor neuropathy, autosomal dominant|autosomal dominant dHMN|autosomal dominant distal hereditary motor neuropathy UMLS:CN228930|Orphanet:140465|ICD10:G12.1|DOID:0111198 owl:Class MONDO:0023106 biolink:NamedThing Fairbank disease tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, Fairbank type|dysplasia epiphysealis multiplex|epiphyseal dysplasia Fairbank type|Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, ribbing type MESH:C536393 owl:Class MONDO:0008129 biolink:NamedThing ophthalmoplegia, familial total, with iris transillumination tmpak2llvmy_mondo_relaxed.owl ophthalmoplegia, familial total, with iris transillumination OMIM:165098|UMLS:C1833836|MESH:C563499 owl:Class MONDO:0016019 biolink:NamedThing Rasmussen subacute encephalitis A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia. tmpak2llvmy_mondo_relaxed.owl Rasmussen encephalitis|RE|chronic focal encephalitis|CFE|Rasmussen syndrome SCTID:230191005|UMLS:C2930868|NCIT:C125384|MESH:C535291|Orphanet:1929|ICD9:323.9|ICD10:G04.8|GARD:0007527 owl:Class OBO:CHR_9606-chr7q11.2 biolink:NamedThing chr7q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 77900000 62100000 hg38 owl:Class MONDO:0007943 biolink:NamedThing Nager acrofacial dysostosis Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. tmpak2llvmy_mondo_relaxed.owl split hand deformity-mandibulofacial dysostosis|acrofacial dysostosis 1, Nager type|Nager acrofacial dysostosis syndrome|AFD1|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|NAFD|AFD, Nager type|Nager acrofacial dysostosis|AFD|Nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|preaxial acrofacial dysostosis|preaxial acrodysostosis|preaxial manibulofacial dysostosis Orphanet:245|MESH:C538184|GARD:0000498|DOID:5768|ICD10:Q75.4|SCTID:35520007|OMIM:154400|UMLS:C0265245 https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis owl:Class MONDO:0012310 biolink:NamedThing fibrosis of extraocular muscles, congenital, with synergistic divergence tmpak2llvmy_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|external ophthalmoplegia with synergistic divergence|congenital fibrosis syndrome with synergistic divergence UMLS:C1865040|OMIM:609612 owl:Class MONDO:0008404 biolink:NamedThing scalp-ear-nipple syndrome Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Sen syndrome|scalp-EAR-nipple syndrome|scalp ear nipple syndrome|scalp-ear-nipple syndrome|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|SENS|Finlay-Marks syndrome MESH:C536623|SCTID:721888002|Orphanet:2036|GARD:0000159|DOID:0111550|OMIM:181270|ICD10:Q87.8 owl:Class MONDO:0007612 biolink:NamedThing gingival fibromatosis-progressive deafness syndrome Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl fibromatosis, gingival, with progressive deafness|Jones syndrome|familial gingival fibromatosis associated with progressive deafness|gingival fibromatosis with sensorineural hearing loss|GFD|gingival fibromatosis with progressive deafness ICD10:H90.3|GARD:0003056|SCTID:722449007|OMIM:135550|MESH:C535886|UMLS:C1851112|Orphanet:2027 owl:Class MONDO:0014934 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 24 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant cerebellar ataxia caused by mutation in UBA5|spinocerebellar ataxia, autosomal recessive 24|spinocerebellar ataxia, autosomal recessive 24; SCAR24|UBA5 autosomal dominant cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 24|SCAR24 DOID:0111615|OMIM:617133|UMLS:C4310699 owl:Class MONDO:0015281 biolink:NamedThing atrial standstill Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. tmpak2llvmy_mondo_relaxed.owl atrial cardiomyopathy with heart block SCTID:450919004|ICD10:I45.5|Orphanet:1344|UMLS:CN199216|ICD9:426.6 owl:Class MONDO:0017203 biolink:NamedThing chronic endophthalmitis Chronic form of endophthalmitis. tmpak2llvmy_mondo_relaxed.owl endophthalmitis, chronic DOID:10697|UMLS:C0154774|SCTID:13978000|ICD9:360.03|ICD10:H44.1|Orphanet:279891|ICD10:H44.0|MedDRA:10008864 owl:Class UBERON:0004136 biolink:NamedThing intermediate tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules tmpak2llvmy_mondo_relaxed.owl tubulus attenuatus|renal intermediate tubule owl:Class UBERON:0007685 biolink:NamedThing region of nephron tubule tmpak2llvmy_mondo_relaxed.owl region of renal tubule|renal tubule region owl:Class UBERON:0002402 biolink:NamedThing pleural cavity The fluid-filled cavity that lies between the visceral and parietal pleurae. tmpak2llvmy_mondo_relaxed.owl cavitum pleuralae|cavitum pleurale|cavitas pleuralis owl:Class MONDO:0014528 biolink:NamedThing chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). tmpak2llvmy_mondo_relaxed.owl chronic atrial dysrhythmia-intestinal motility disorder|Cohesinopathy affecting heart and gut rhythm|chronic atrial and intestinal dysrhythmia syndrome|chronic atrial intestinal dysrhythmia syndrome|chronic atrial and intestinal dysrhythmia|caid|caid syndrome UMLS:C4015474|OMIM:616201|SCTID:720507006|Orphanet:435988|DOID:0060339|ICD10:K59.8|GARD:0012281 owl:Class MONDO:0001400 biolink:NamedThing schwannoma of ureter A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. tmpak2llvmy_mondo_relaxed.owl ureter schwannoma|ureteral schwannoma|schwannoma of the ureter|ureter neurilemmoma|ureteral neurilemmoma|neurilemmoma of the ureter|neurilemmoma of ureter UMLS:C1336877|NCIT:C6162|DOID:11888 owl:Class MONDO:0002546 biolink:NamedThing schwannoma A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpak2llvmy_mondo_relaxed.owl schwannoma (WHO grade I)|psammomatous schwannoma|benign neurilemmoma|neurinoma|schwannoma, benign|benign schwannoma|schwannoma|neurilemmoma|neurolemmoma|peripheral fibroblastoma|SCHW UMLS:CN202001|ICDO:9560/0|GARD:0004767|DOID:955|Orphanet:252164|UMLS:C0027809|ICD9:215.9|EFO:0000693|DOID:3192|SCTID:404022001|NCIT:C3269|MedDRA:10029234|MedDRA:10029235|ONCOTREE:SCHW https://rarediseases.info.nih.gov/diseases/4767/schwannoma owl:Class MONDO:0000572 biolink:NamedThing recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpak2llvmy_mondo_relaxed.owl recombinase activating gene 1 deficiency DOID:0060011 owl:Class MONDO:0005966 biolink:NamedThing spleen cancer A malignant neoplasm involving the spleen tmpak2llvmy_mondo_relaxed.owl malignant splenic tumor|spleen neoplasm|malignant splenic neoplasm|malignant tumor of the spleen|spleen cancer|malignant spleen neoplasm|splenic cancer|splenic neoplasm|malignant neoplasm of spleen|malignant neoplasm of the spleen|cancer of spleen|malignant tumor of spleen|cancer of the spleen|malignant tumour of spleen EFO:0007491|NCIT:C3539|SCTID:127230005|ICD10:C26.1|MESH:D013160|DOID:672 owl:Class MONDO:0009691 biolink:NamedThing mycosis fungoides Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. tmpak2llvmy_mondo_relaxed.owl mycosis fungoides lymphoma|classic mycosis fungoides|mycosis fungoides of unspecified site|granuloma fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites|mycosis fungoides NOS (morphologic abnormality)|mycosis fungoides (morphologic abnormality)|CTCL/ mycosis fungoides|Alibert-Bazin syndrome|mycosis fungoides, Alibert-Bazin type|cutaneous T-cell lymphoma/mycosis fungoides|MF|mycosis fungoides Orphanet:2584|OMIM:254400|ONCOTREE:MYCF|EFO:1001051|DOID:8691|MESH:D009182|SCTID:118618005|UMLS:C0026948|ICD10:C84.00|MedDRA:10028483|NCIT:C3246|ICDO:9700/3|ICD10:C84.0|GARD:0003863|ICD9:202.1 https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides owl:Class GO:0050817 biolink:NamedThing coagulation The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpak2llvmy_mondo_relaxed.owl clotting owl:Class MONDO:0007812 biolink:NamedThing ichthyosis, lamellar, autosomal dominant tmpak2llvmy_mondo_relaxed.owl ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant|lamellar ichthyosis, autosomal dominant OMIM:146750|MESH:C537263|SCTID:254164007|GARD:0009735 https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant owl:Class UBERON:0036343 biolink:NamedThing wall of gallbladder tmpak2llvmy_mondo_relaxed.owl gallbladder wall owl:Class MONDO:0020348 biolink:NamedThing acute motor and sensory axonal neuropathy Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). tmpak2llvmy_mondo_relaxed.owl acute motor-sensory axonal GBS|acute motor-sensory axonal neuropathy|AMSAN|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal Guillain-Barré syndrome UMLS:CN207195|SCTID:716722005|ICD10:G61.0|NCIT:C116927|Orphanet:98917 owl:Class MONDO:0017552 biolink:NamedThing humero-ulnar synostosis, unilateral tmpak2llvmy_mondo_relaxed.owl humero-ulnar fusion, unilateral Orphanet:295213|ICD10:Q74.0 owl:Class MONDO:0019782 biolink:NamedThing humero-ulnar synostosis tmpak2llvmy_mondo_relaxed.owl humero-ulnar fusion ICD10:Q74.0|Orphanet:94056 owl:Class UBERON:0005088 biolink:NamedThing sebaceous gland placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022749 biolink:NamedThing non-neoplastic nevus A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth. tmpak2llvmy_mondo_relaxed.owl Non-Neoplastic Nevus|non-neoplastic nevus|Non-neoplastic nevus ICD9:448.1|SCTID:195381005|NCIT:C3937|UMLS:C0265027 owl:Class MONDO:0002792 biolink:NamedThing cerebellar vermis medulloblastoma A medulloblastoma arising from the vermis of the cerebellum. tmpak2llvmy_mondo_relaxed.owl vermis medulloblastoma|cerebellar vermis medulloblastoma|medulloblastoma of cerebellar vermis|medulloblastoma of the cerebellar vermis DOID:3860|UMLS:C1332903|NCIT:C5401 owl:Class MONDO:0012059 biolink:NamedThing polydactyly, postaxial, type A4 tmpak2llvmy_mondo_relaxed.owl postaxial polydactyly, type A4|Papa4|polydactyly, postaxial, type A4 UMLS:C1837868|MESH:C563909|OMIM:608562 owl:Class GO:0031670 biolink:NamedThing cellular response to nutrient Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018709 biolink:NamedThing X-linked intellectual disability-hypotonia-movement disorder syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:457260 owl:Class MONDO:0004174 biolink:NamedThing secretory uterine corpus endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. tmpak2llvmy_mondo_relaxed.owl endometrial endometrioid adenocarcinoma, secretory variant|secretory uterine corpus endometrioid adenocarcinoma NCIT:C27839|ICDO:8382/3|DOID:7289|UMLS:C1336907 owl:Class MONDO:0006192 biolink:NamedThing endometrial endometrioid adenocarcinoma A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl endometrioid carcinoma of endometrium|endometrioid endomet. adenocar.|endometrioid carcinoma of the endometrium|endometrioid adenocarcinoma of the endometrium|endometrioid adenocarcinoma of endometrium|endometrioid endometrial adenocarcinoma|endometrial endometrioid adenocarcinoma|uterine endometrioid carcinoma|uterine corpus endometrioid carcinoma|uterine corpus endometrioid adenocarcinoma UMLS:C1336905|NCIT:C6287|EFO:1000233|ONCOTREE:UEC owl:Class CL:0000896 biolink:NamedThing activated CD4-positive, alpha-beta T cell A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. tmpak2llvmy_mondo_relaxed.owl activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T-lymphocyte cell owl:Class GO:0045272 biolink:NamedThing plasma membrane respiratory chain complex I A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. tmpak2llvmy_mondo_relaxed.owl NADH dehydrogenase (ubiquinone) complex|respiratory chain complex I owl:Class UBERON:0014491 biolink:NamedThing middle phalanx of digit 5 A middle phalanx that is part of a digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fifth digit intermediate phalanx|intermediate phalanx of digit 5|digit V P2|middle phalanx of digit V|5th digit middle phalanx|intermediate phalanx of fifth digit|digit 5 intermediate phalanx|digit 5 middle phalanx|middle phalanx of 5th digit|fifth digit middle phalanx|5th digit of intermediate phalanx|5th digit intermediate phalanx|5th digit of middle phalanx|fifth middle phalanx|middle phalanx of fifth digit|intermediate phalanx of 5th digit|middle phalanx of little digit owl:Class MONDO:0008958 biolink:NamedThing Klippel-Feil syndrome 2, autosomal recessive Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. tmpak2llvmy_mondo_relaxed.owl KFS2|cervical vertebral fusion, autosomal recessive|Klippel-Feil syndrome 2, autosomal recessive|Klippel-FEIL syndrome 2, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in MEOX1|Kfs, autosomal recessive MESH:C536888|OMIM:214300|DOID:0080590|UMLS:C1859209 owl:Class MONDO:0021953 biolink:NamedThing tuberculous fibrosis of lung Scarring of the lung parenchyma caused by pulmonary tuberculosis. tmpak2llvmy_mondo_relaxed.owl tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung|Tuberculous fibrosis of lung UMLS:C0041336|ICD9:011.41|ICD9:011.42|ICD9:011.43|ICD9:011.46|SCTID:90117007|ICD9:011.44|NCIT:C35088|ICD9:011.40 owl:Class MONDO:0003120 biolink:NamedThing mixed testicular germ cell cancer A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. tmpak2llvmy_mondo_relaxed.owl mixed germ cell tumor of the testis|testis mixed germ cell tumor|testicular mixed germ cell neoplasm|mixed testicular germ cell tumor|testicular mixed germ cell tumor|mixed germ cell tumor of testis|mixed germ cell neoplasm of the testis|mixed germ cell neoplasm of testis|mixed germ cell tumor|testicular germ cell tumor (mixed) UMLS:C1336720|NCIT:C6347|ONCOTREE:MGCT|DOID:4743 owl:Class MONDO:0012162 biolink:NamedThing patterned macular dystrophy 2 Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene. tmpak2llvmy_mondo_relaxed.owl patterned macular dystrophy type 2|butterfly-shaped pigmentary maculary dystrophy 2|macular dystrophy, butterfly-Shaped pigmentary, 2|CTNNA1 patterned macular dystrophy|macular dystrophy, patterned, 2|MDPT2|patterned macular dystrophy caused by mutation in CTNNA1|macular dystrophy, patterned, type 2 UMLS:C1837029|DOID:0060864|OMIM:608970 owl:Class MONDO:0020381 biolink:NamedThing patterned macular dystrophy Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. tmpak2llvmy_mondo_relaxed.owl butterfly-shaped pattern dystrophy|butterfly-shaped pigment dystrophy|macular dystrophy, patterned|patterned dystrophy of retinal pigment epithelium|butterfly-shaped pigmentary macular dystrophy DOID:0060863|ICD10:H35.5|SCTID:725590001|Orphanet:99001|UMLS:CN207254|OMIMPS:169150|UMLS:C4511237 owl:Class HGNC:4261 biolink:NamedThing GH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006563 biolink:NamedThing inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. tmpak2llvmy_mondo_relaxed.owl inverted folicular keratosis|inverted follicular keratosis Wikipedia:Inverted_follicular_keratosis|EFO:1000717|DOID:6945|SCTID:394728005|NCIT:C9007|ICD9:264.8|UMLS:C0334019 owl:Class GO:1900248 biolink:NamedThing negative regulation of cytoplasmic translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. tmpak2llvmy_mondo_relaxed.owl inhibition of cytoplasmic translational elongation|downregulation of cytoplasmic translational elongation|down-regulation of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation owl:Class GO:1900247 biolink:NamedThing regulation of cytoplasmic translational elongation Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013066 biolink:NamedThing 46,XY sex reversal 3 tmpak2llvmy_mondo_relaxed.owl Sex reversal, XY, with or without adrenal failure|disorder of Sex development, 46,XY, Nr5A1-related|46,XY Sex reversal, partial or complete, Nr5A1-related|SRXY3|46,XY sex reversal 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|46,XY Sex reversal type 3|46,XY SEX reversal 3 OMIM:612965|DOID:0111772 owl:Class MONDO:0007907 biolink:NamedThing lipoma of the conjunctiva tmpak2llvmy_mondo_relaxed.owl lipoma of the conjunctiva MESH:C563620|UMLS:C1835373|OMIM:151700 owl:Class MONDO:0024863 biolink:NamedThing small size posterior uveal melanoma tmpak2llvmy_mondo_relaxed.owl small size posterior uveal melanoma UMLS:C0278867|NCIT:C9089 owl:Class MONDO:0003927 biolink:NamedThing posterior uveal melanoma tmpak2llvmy_mondo_relaxed.owl medium/large size posterior uveal melanoma|small size posterior uveal melanoma DOID:6566 owl:Class MONDO:0020133 biolink:NamedThing posterior fossa malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98519 owl:Class MONDO:0009324 biolink:NamedThing Hartnup disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). tmpak2llvmy_mondo_relaxed.owl deficiency of tryptophan oxygenase|Hartnup disease|Hartnup disorder|neutral 1 amino acid transport defect|aminoaciduria, Hartnup type|neutral amino acid transport defect|HND NCIT:C84748|MedDRA:10019165|GARD:0006569|DOID:1060|SCTID:80902009|ICD10:E72.0|MESH:D006250|OMIM:234500|UMLS:C0018609|ICD10:E72.02|Orphanet:2116 https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease owl:Class MONDO:0001800 biolink:NamedThing equatorial staphyloma tmpak2llvmy_mondo_relaxed.owl ICD10:H15.81|UMLS:C0155361|DOID:13788|SCTID:82146006|ICD9:379.13 owl:Class MONDO:0001321 biolink:NamedThing scleral staphyloma tmpak2llvmy_mondo_relaxed.owl scleral staphyloma (disease)|scleral ectasia|scleral staphyloma scleral staphyloma (disease) UMLS:C0155359|ICD9:379.11|DOID:11595|HP:0030854|SCTID:111534007|ICD10:H15.84 Editor note: consider obsoleting as is finding owl:Class MONDO:0014348 biolink:NamedThing intellectual disability, autosomal recessive 42 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive type 42|mental retardation, autosomal recessive type 42|glycosylphosphatidylinositol biosynthesis defect 9|PGAP1 autosomal recessive non-syndromic intellectual disability|MRT42|mental retardation, autosomal recessive 42|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|intellectual disability, autosomal recessive 42 UMLS:C4014343|OMIM:615802 owl:Class MONDO:0020311 biolink:NamedThing chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. tmpak2llvmy_mondo_relaxed.owl chronic myelomonocytic leukemia (CMML)|chronic myelomonocytic leukemia|CMML SCTID:127225006|ICD10:C93.1|NCIT:C3178|ONCOTREE:CMML|ICDO:9945/3|UMLS:C0023480|MESH:D015477|DOID:0080188|Orphanet:98823|GARD:0008225|MedDRA:10009018 owl:Class UBERON:0002456 biolink:NamedThing internal thoracic artery An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl internal thoracic mammary artery|mammary artery|internal mammary artery|arteria mammaria interna|arteria thoracica interna owl:Class UBERON:0007255 biolink:NamedThing intervertebral disk of lumbar vertebra An intervertebral disk that is part of a lumbar region of vertebral column. A lumbar intervertebral disk connects at least one lumbar vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra tmpak2llvmy_mondo_relaxed.owl intervertebral disc of lumbar region owl:Class MONDO:0030883 biolink:NamedThing carpal tunnel syndrome 2 tmpak2llvmy_mondo_relaxed.owl carpal tunnel syndrome 2|CTS2 OMIM:619161 owl:Class UBERON:0005251 biolink:NamedThing yolk sac cavity An anatomical cavity that is part of a yolk sac [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cavity of yolk sac|yolk sac space|yolk sac lumen owl:Class MONDO:0009113 biolink:NamedThing hemolytic anemia due to diphosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. tmpak2llvmy_mondo_relaxed.owl DPGM deficiency|BPGM deficiency|bisphosphoglyceromutase deficiency|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|diphosphoglycerate mutase deficiency of erythrocyte UMLS:C1291620|ICD10:D55.2|OMIM:222800|NCIT:C131638|DOID:0111630|Orphanet:714|GARD:0001874 owl:Class MONDO:0010869 biolink:NamedThing motor neuron disease with dementia and ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl motor neuron disease with dementia and ophthalmoplegia MESH:C563954|UMLS:C1838253|OMIM:600333 owl:Class GO:0045648 biolink:NamedThing positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of erythrocyte differentiation|positive regulation of RBC differentiation|positive regulation of red blood cell differentiation|stimulation of erythrocyte differentiation|activation of erythrocyte differentiation|up-regulation of erythrocyte differentiation|upregulation of erythrocyte differentiation owl:Class MONDO:0010426 biolink:NamedThing X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, endothelial, X-linked|XECD|endothelial corneal dystrophy, X-linked ICD10:H18.5|MESH:C567587|DOID:0060446|Orphanet:293621|OMIM:300779|UMLS:C2749049|SCTID:718579008 owl:Class MONDO:0016498 biolink:NamedThing acute pure sensory neuropathy tmpak2llvmy_mondo_relaxed.owl acute pure sensory Guillain-Barré syndrome|acute pure sensory GBS|acute pure sensory Guillain-BarrC) syndrome ICD10:G61.0|Orphanet:231450|UMLS:CN201501 owl:Class MONDO:0016495 biolink:NamedThing functional variant of Guillain-Barre syndrome tmpak2llvmy_mondo_relaxed.owl functional variant of GBS|functional variant of Guillain-Barré syndrome UMLS:CN201497|ICD10:G61.0|Orphanet:231419 owl:Class UBERON:0010091 biolink:NamedThing future hindbrain meninx A multi-tissue structure that has the potential to develop into a meninx of hindbrain. tmpak2llvmy_mondo_relaxed.owl future hindbrain meninges owl:Class MONDO:0024333 biolink:NamedThing sciatica A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina. tmpak2llvmy_mondo_relaxed.owl bilateral sciaticas|neuralgia, sciatic|sciatic Neuralgias|neuralgias, sciatic|bilateral sciatica|sciatica, bilateral|sciatic neuralgia ICD9:724.3|SCTID:23056005|MESH:D012585 owl:Class MONDO:0015453 biolink:NamedThing Cogan syndrome Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. tmpak2llvmy_mondo_relaxed.owl diffuse interstitual keratitis|Cogan syndrome|Cogan's syndrome ICD10:H16.3|MESH:D055952|GARD:0001421|MedDRA:10056667|ICD10:H16.32|DOID:0060216|Orphanet:1467|UMLS:CN199560|SCTID:405810005 owl:Class MONDO:0030703 biolink:NamedThing autoimmune vasculitis An autoimmune form of vasculitis. tmpak2llvmy_mondo_relaxed.owl SCTID:427213005|DOID:0040097|UMLS:C1328843 owl:Class UBERON:0011136 biolink:NamedThing ligament of vertebral column ligament that joins successive centra. Important in controlling the stiffness of the vertebral column when it flexes. tmpak2llvmy_mondo_relaxed.owl intervertebral ligament|vertebral column ligament|vertebral centrum ligament owl:Class MONDO:0014344 biolink:NamedThing congenital heart defects, multiple types, 4 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. tmpak2llvmy_mondo_relaxed.owl CHTD4|congenital heart defects, multiple types caused by mutation in NR2F2|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types, 4 OMIM:615779|UMLS:C4014310 owl:Class MONDO:0000119 biolink:NamedThing congenital heart defects, multiple types tmpak2llvmy_mondo_relaxed.owl CHTD Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. owl:Class MONDO:0008216 biolink:NamedThing pelvic lipomatosis with crossed renal ectopia tmpak2llvmy_mondo_relaxed.owl pelvic lipomatosis with crossed renal ectopia UMLS:C1868511|MESH:C566812|OMIM:169545 owl:Class MONDO:0013981 biolink:NamedThing myoclonus, familial A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. tmpak2llvmy_mondo_relaxed.owl myoclonus, familial cortical|familial myoclonus|familial cortical myoclonus|FCM SCTID:763770005|Orphanet:319189|OMIMPS:614937|ICD10:G25.3|UMLS:C3539916 owl:Class MONDO:0017651 biolink:NamedThing primary myoclonus tmpak2llvmy_mondo_relaxed.owl Orphanet:306750 owl:Class MONDO:0014530 biolink:NamedThing autosomal recessive spinocerebellar ataxia 18 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. tmpak2llvmy_mondo_relaxed.owl GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency|SCAR18|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive spinocerebellar ataxia type 18 DOID:0080042|Orphanet:363432|ICD10:G11.1|OMIM:616204|UMLS:C4015505 owl:Class MONDO:0018189 biolink:NamedThing autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. tmpak2llvmy_mondo_relaxed.owl UMLS:CN204693|ICD10:G11.1|Orphanet:363429 owl:Class MONDO:0012251 biolink:NamedThing MEDNIK syndrome MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). tmpak2llvmy_mondo_relaxed.owl mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|erythrokeratodermia variabilis 3|MEDNIK|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|erythrokeratodermia variabilis, Kamouraska type DOID:0060483|UMLS:CN229776|SCTID:722035007|UMLS:C1836330|Orphanet:171851|OMIM:609313|MESH:C563739 owl:Class MONDO:0009224 biolink:NamedThing fetal iodine syndrome Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). tmpak2llvmy_mondo_relaxed.owl FIDD|fetal iodine deficiency disorder|endemic cretinism UMLS:C4273860|Orphanet:1910|OMIM:228355|SCTID:718228001|ICD10:P72.2|GARD:0002304 https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome owl:Class MONDO:0013628 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 3 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. tmpak2llvmy_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 8|intellectual disability, autosomal recessive 17|hyperphosphatasia with intellectual disability syndrome type 3|HPMRS3|hyperphosphatasia with mental retardation syndrome type 3|mental retardation, autosomal recessive 21|mental retardation, autosomal recessive 17|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|hyperphosphatasia with intellectual disability syndrome 3|hyperphosphatasia with mental retardation syndrome 3|PGAP2 hyperphosphatasia-intellectual disability syndrome|intellectual disability, autosomal recessive 21 OMIM:614207|UMLS:C3280153 owl:Class MONDO:0024363 biolink:NamedThing rapid eye movement sleep disorder tmpak2llvmy_mondo_relaxed.owl repeated rapid eye movement sleep interruptions SCTID:192004002|ICD9:379.59 owl:Class MONDO:0005745 biolink:NamedThing Enoplea infectious disease Infections with nematodes of the order enoplida. tmpak2llvmy_mondo_relaxed.owl Enoplea caused disease or disorder|Enoplea disease or disorder MESH:D017189|EFO:0007253 owl:Class MONDO:0013511 biolink:NamedThing cyanosis, transient neonatal tmpak2llvmy_mondo_relaxed.owl TNCY|cyanosis, transient neonatal UMLS:C3151421|OMIM:613977 owl:Class CHEBI:35493 biolink:NamedThing antipyretic A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. tmpak2llvmy_mondo_relaxed.owl anti-pyretic owl:Class MONDO:0011072 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 2 tmpak2llvmy_mondo_relaxed.owl NIDDM2|diabetes mellitus, noninsulin-dependent, 2|noninsulin-dependent diabetes mellitus 2 UMLS:C1832387|OMIM:601407|MESH:C563323 owl:Class MONDO:0011610 biolink:NamedThing dimethylglycine dehydrogenase deficiency An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl Dmgdh deficiency|DMGDH deficiency|dimethylglycine dehydrogenase deficiency|DMGDHD|DMG dehydrogenase deficiency|dimethylglycine dehydrogenase activity disease|disorder of dimethylglycine dehydrogenase activity Orphanet:243343|MESH:C565278|UMLS:C1853892|ICD10:E72.5|SCTID:719449007|OMIM:605850 owl:Class MONDO:0019239 biolink:NamedThing inborn disorder of serine family metabolism An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn disorder of serine or glycine metabolism|rare inborn error of serine family amino acid metabolic process|inborn error of serine family amino acid metabolic process|disorder of serine or glycine metabolism|inborn serine family amino acid metabolic process disorder Orphanet:79194|UMLS:CN227601 owl:Class MONDO:0003191 biolink:NamedThing rete ovarii adenocarcinoma An exceptionally rare adenocarcinoma that arises from the rete ovarii. tmpak2llvmy_mondo_relaxed.owl rete ovarii adenocarcinoma NCIT:C40017|DOID:4894|UMLS:C3840223 owl:Class ENVO:09000004 biolink:NamedThing amount of carbon atom in environmental material The amount of a carbon atom when measured in environmental material. tmpak2llvmy_mondo_relaxed.owl environmental material carbon atom amount owl:Class MONDO:0003993 biolink:NamedThing childhood vagina botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl childhood sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina|vaginal childhood sarcoma Botryoides|pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina NCIT:C35556|DOID:6787|UMLS:C1332945 owl:Class MONDO:0003992 biolink:NamedThing childhood botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl childhood sarcoma Botryoides|botryoid rhabdomyosarcoma of childhood|childhood botryoid-type embryonal rhabdomyosarcoma|pediatric botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma UMLS:C1332944|NCIT:C35574|DOID:6786 owl:Class MONDO:0024354 biolink:NamedThing cytomegalovirus pneumonia Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. tmpak2llvmy_mondo_relaxed.owl cytomegalovirus pneumonia|Cytomegalovirus caused pneumonia|Cytomegalovirus pneumonia|Cytomegaloviral pneumonia|CMV pneumonia NCIT:C35360|SCTID:7678002|UMLS:C0276253 owl:Class MONDO:0009279 biolink:NamedThing triple-A syndrome Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. tmpak2llvmy_mondo_relaxed.owl Addisonian achalasia syndrome|AAA syndrome|quaternary A syndrome|achalasia addisonianism alacrimia syndrome|adrenal insufficiency-achalasia-alacrima syndrome|2A syndrome|achalasia-alacrima syndrome|Addisonian-achalasia syndrome|AAAS|achalasia-addisonianism-alacrima syndrome|AAA|Double A syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|4A syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|glucocorticoid deficiency and achalasia|achalasia alacrima syndrome|3A syndrome|alacrima-achalasia-addisonianism|triple A syndrome|achalasia-addisonianism-alacrimia syndrome|hypoadrenalism with achalasia|triple-a syndrome|Allgrove syndrome ICD10:E27.4|NCIT:C131005|GARD:0000457|SCTID:45414006|Orphanet:869|EFO:1001997|OMIM:231550|MESH:C536008|DOID:0050602|ICD9:255.41 https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome owl:Class MONDO:0015800 biolink:NamedThing osteosclerosis-developmental delay-craniosynostosis syndrome This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. tmpak2llvmy_mondo_relaxed.owl UMLS:CN200391|Orphanet:178377|SCTID:722117000|ICD10:Q75.8 owl:Class UBERON:0005317 biolink:NamedThing pulmonary artery endothelium An pulmonary artery endothelium is an epithelium that lines the pulmonary artery[GO]. tmpak2llvmy_mondo_relaxed.owl pulmonary artery endothelial tube owl:Class UBERON:0013122 biolink:NamedThing distal epiphysis of phalanx of pes tmpak2llvmy_mondo_relaxed.owl caput phalangis (pedis)|distal end of phalanx of foot|ungual tuberosity of distal phalanx of toe|head of phalanx of foot|distal epiphysis of phalanx of toe|caput phalangis pedis owl:Class MONDO:0019277 biolink:NamedThing epidermal appendage anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:79362 owl:Class MONDO:0018608 biolink:NamedThing pure autonomic failure Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. tmpak2llvmy_mondo_relaxed.owl Pure dysautonomia|Bradbury-Eggleston syndrome|idiopathic orthostatic hypotension|orthostatic hypotension (a symptom)|PAF|Bradbury Eggleston syndrome|Pure idiopatic dysautonomia|idiopathic orthostatic hypotension (a symptom) SCTID:84438001|GARD:0010428|UMLS:C2931939|UMLS:C0393911|ICD10:G90.3|UMLS:CN205091|MESH:D054970|Orphanet:441 owl:Class MONDO:0012917 biolink:NamedThing specific language impairment 4 tmpak2llvmy_mondo_relaxed.owl SLI4|specific language impairment 4 OMIM:612514|MESH:C567288|UMLS:C2675874 owl:Class MONDO:0014728 biolink:NamedThing combined oxidative phosphorylation defect type 27 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. tmpak2llvmy_mondo_relaxed.owl COXPD27|combined oxidative phosphorylation deficiency 27|CARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in CARS2|combined oxidative phosphorylation deficiency type 27 UMLS:C4225251|Orphanet:477774|DOID:0111489|EFO:0009037|OMIM:616672 owl:Class MONDO:0017923 biolink:NamedThing multiple synostoses syndrome Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. tmpak2llvmy_mondo_relaxed.owl symphalangism-brachydactyly syndrome|facio-audio-symphalangism|deafness-Hermann type symphalangism syndrome|WL syndrome OMIMPS:186500|UMLS:CN204052|ICD10:Q78.8|DOID:0050794|Orphanet:3237 owl:Class GO:0001807 biolink:NamedThing regulation of type IV hypersensitivity Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022714 biolink:NamedThing chester porphyria Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. tmpak2llvmy_mondo_relaxed.owl porphyria, Chester type|PORC GARD:0010185 https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria owl:Class GO:0060125 biolink:NamedThing negative regulation of growth hormone secretion Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010028 biolink:NamedThing sialuria Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. tmpak2llvmy_mondo_relaxed.owl sialuria|sialuria, French type DOID:3659|Orphanet:3166|GARD:0004865|SCTID:238051008|MedDRA:10067529|OMIM:269921|ICD9:796.4|ICD10:E77.8 owl:Class MONDO:0007005 biolink:NamedThing ulcerative proctosigmoiditis Inflammation of the rectum and the distal portion of the colon. tmpak2llvmy_mondo_relaxed.owl SCTID:52506002|EFO:1001223|ICD9:556.3 owl:Class NCBITaxon:42862 biolink:NamedThing Rickettsia felis tmpak2llvmy_mondo_relaxed.owl Rickettsia azadi PMID:8904435|PMID:12508865|PMID:11321078|GC_ID:11 NCBITaxon:147578|NCBITaxon:135271 ncbi_taxonomy owl:Class MONDO:0022151 biolink:NamedThing Chitty Hall Webb syndrome tmpak2llvmy_mondo_relaxed.owl bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay MESH:C535929|UMLS:C2931066|GARD:0001277|SCTID:725103004 https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome owl:Class MONDO:0014050 biolink:NamedThing isolated microphthalmia 8 Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene. tmpak2llvmy_mondo_relaxed.owl ALDH1A3 isolated microphthalmia|isolated microphthalmia 8|MCOP8|isolated microphthalmia caused by mutation in ALDH1A3|isolated microphthalmia type 8|microphthalmia, isolated 8|microphthalmia, isolated type 8 UMLS:C3554524|ICD10:Q11.0|DOID:0060841|OMIM:615113 owl:Class MONDO:0009376 biolink:NamedThing carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. tmpak2llvmy_mondo_relaxed.owl carbamoyl-phosphate synthetase deficiency|CPS1 deficiency|carbamyl phosphate synthetase (CPS) deficiency|deficiency disease|CPS 1 deficiency|carbamoyl-phosphate synthase|CPS I deficiency|CPS1D|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|carbamoyl phosphate synthetase I deficiency disease|carbamoyl-phosphate synthetase 1 deficiency|carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthetase I deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|carbamoyl phosphate synthetase deficiency EFO:0007193|MESH:D020165|SCTID:62522004|GARD:0007269|MedDRA:10058297|Orphanet:147|ICD10:E72.2|NCIT:C84612|DOID:9280|OMIM:237300 owl:Class MONDO:0030047 biolink:NamedThing microcephaly, developmental delay, and brittle hair syndrome tmpak2llvmy_mondo_relaxed.owl microcephaly, developmental delay, and brittle hair syndrome|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME|MDBH OMIM:618891 owl:Class ENVO:09000019 biolink:NamedThing concentration of chloride in water The concentration of a chloride when measured in water. tmpak2llvmy_mondo_relaxed.owl water chloride concentration owl:Class MONDO:0009031 biolink:NamedThing craniodiaphyseal dysplasia Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. tmpak2llvmy_mondo_relaxed.owl craniodiaphyseal dysplasia|Lionitis|CDD ICD10:M85.2|UMLS:C0410539|MESH:C562940|SCTID:205506004|NCIT:C131429|Orphanet:1513|GARD:0001567|ICD9:756.59|DOID:0080032|OMIM:218300 https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia owl:Class MONDO:0015465 biolink:NamedThing craniometaphyseal dysplasia Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. tmpak2llvmy_mondo_relaxed.owl ICD10:Q78.8|ICD9:756.89|SCTID:36601008|OMIMPS:123000|Orphanet:1522|DOID:0080033 owl:Class MONDO:0010049 biolink:NamedThing spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma intellectual disability Orphanet:2818|OMIM:270850|MESH:C564809|GARD:0004931|UMLS:C1849113 owl:Class HGNC:7159 biolink:NamedThing MMP13 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006957 biolink:NamedThing root caries Dental caries involving the tooth root, cementum, or cervical area of the tooth. tmpak2llvmy_mondo_relaxed.owl root caries|cementum caries|dental caries of cementum|dental caries of root surface|cementum dental caries SCTID:30512007|MESH:D017213|UMLS:C0162644|DOID:14089|ICD9:521.08|EFO:1001163 owl:Class HGNC:12680 biolink:NamedThing VEGFA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003340 biolink:NamedThing malignant glomus tumor A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl malignant glomus tumor|glomus tumor, malignant|glomangiosarcoma|malignant glomus neoplasm ONCOTREE:MGST|ICDO:8710/3|ICDO:8711/3|DOID:5233|NCIT:C4221|UMLS:C1266111 owl:Class NCBITaxon:43920 biolink:NamedThing Chrysopsinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7205 biolink:NamedThing Tabanidae tmpak2llvmy_mondo_relaxed.owl horseflies and deerflies|horseflies|deerflies GC_ID:1 ncbi_taxonomy owl:Class CHEBI:15966 biolink:NamedThing D-glutamic acid An optically active form of glutamic acid having D-configuration. tmpak2llvmy_mondo_relaxed.owl (R)-2-aminopentanedioic acid|glutamic acid D-form|D-Glutaminic acid|D-Glutamic acid|D-glutamic acid|(2R)-2-aminopentanedioic acid|D-Glutaminsaeure|D-2-Aminoglutaric acid|DGL owl:Class CHEBI:18237 biolink:NamedThing glutamic acid An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. tmpak2llvmy_mondo_relaxed.owl DL-Glutamic acid|glutamic acid|DL-Glutaminic acid|Glutamate|Glutaminsaeure|2-Aminoglutaric acid|Glutamic acid|Glutaminic acid|E|2-aminopentanedioic acid|Glu owl:Class NCBITaxon:5552 biolink:NamedThing Trichosporon tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:599816|NCBITaxon:165811|NCBITaxon:107448|NCBITaxon:106843 ncbi_taxonomy owl:Class NCBITaxon:1759442 biolink:NamedThing Trichosporonaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005788 biolink:NamedThing hepatitis E virus infection Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. tmpak2llvmy_mondo_relaxed.owl hepatitis type E|Hepatitis E virus caused hepatitis|Hepatitis E virus hepatitis GARD:0009541|MESH:D016751|UMLS:C0085293|EFO:0007303|SCTID:7111000119109|DOID:4411 https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e owl:Class MONDO:0021739 biolink:NamedThing prurigo A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl Prurigo|pruritic rash|Pruritic rash|prurigo|Itchy skin eruption|itchy skin eruption MESH:D011536|ICD9:698.2|ICD9:698.8|SCTID:64144002|UMLS:C0033771 owl:Class MONDO:0005269 biolink:NamedThing carotid artery disease A disease involving the carotid artery segment. tmpak2llvmy_mondo_relaxed.owl disease of carotid artery segment|disorder of carotid artery segment|disease or disorder of carotid artery segment|disorder of carotid artery|carotid artery disorder|carotid artery segment disease|carotid artery segment disease or disorder EFO:0003781|NCIT:C84476|MESH:D002340|SCTID:371160000|ICD9:447.9|UMLS:C0007273|DOID:3407 owl:Class MONDO:0012997 biolink:NamedThing cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. tmpak2llvmy_mondo_relaxed.owl Hardikar syndrome|HARDIKAR syndrome GARD:0009280|Orphanet:1415|SCTID:720636001|OMIM:612726|MESH:C535632|UMLS:C0795969 owl:Class UBERON:0004720 biolink:NamedThing cerebellar vermis A subregion of the cerebellar cortex, consisting of the most medial zone of the cerebellar cortex, stradding the midline. May be continuous with the lateral cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissures in others (e.g., ventrally) tmpak2llvmy_mondo_relaxed.owl vermal parts of the cerebellum|vermal regions|vermis of cerebellum [I-X]|vermis cerebelli [I-X]|cerebellum vermis|vermis of cerebellum|vermis cerebelli|vermis owl:Class HGNC:4580 biolink:NamedThing GRIK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002968 biolink:NamedThing lymphocele A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. tmpak2llvmy_mondo_relaxed.owl lymph cyst ICD9:457.8|SCTID:234110002|DOID:4347|UMLS:C0024248|MESH:D008210 owl:Class HGNC:9766 biolink:NamedThing RAB27A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048580 biolink:NamedThing regulation of post-embryonic development Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009343 biolink:NamedThing Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease polydactyly heart disease|Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect UMLS:C1856111|GARD:0002696|MESH:C538120|MESH:C565517|OMIM:235750 https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease owl:Class GO:0006139 biolink:NamedThing nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside and nucleotide metabolic process|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class CL:0000311 biolink:NamedThing keratin accumulating cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class HGNC:29882 biolink:NamedThing ISCU tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020646 biolink:NamedThing ocular adnexal lymphoma A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type. tmpak2llvmy_mondo_relaxed.owl non-Hodgkin lymphoma of ocular adnexa|ocular adnexa non-Hodgkin lymphoma|OAL|ocular adnexal lymphoma UMLS:C2981712|NCIT:C88145 owl:Class MONDO:0011150 biolink:NamedThing acroosteolysis-keloid-like lesions-premature aging syndrome tmpak2llvmy_mondo_relaxed.owl Penttinen-aula syndrome|premature aging syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|progeroid syndrome, Penttinen type|PENTT|premature aging syndrome Penttinen type ICD10:E34.8|GARD:0004276|MESH:C536653|GARD:0004498|Orphanet:363665|UMLS:C1866182|OMIM:601812 owl:Class NCIT:C68748 biolink:NamedThing HER2/Neu Positive tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C35682 biolink:NamedThing Positive Laboratory Test Result tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29569 biolink:NamedThing LIPT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041751 biolink:NamedThing multibacillary leprosy A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. tmpak2llvmy_mondo_relaxed.owl multibacillary leprosy|lepromatous leprosy SCTID:416257001 owl:Class MONDO:0014730 biolink:NamedThing microcephaly 16, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl microcephaly 16, primary, autosomal recessive|microcephaly 16, primary, autosomal recessive; MCPH16|MCPH16 DOID:0070289|UMLS:C4225249|OMIM:616681 owl:Class MONDO:0100270 biolink:NamedThing peroxisome biogenesis disorder due to PEX19 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene. tmpak2llvmy_mondo_relaxed.owl PEX19 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX19 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:11391 biolink:NamedThing AURKC tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050764 biolink:NamedThing regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001010 biolink:NamedThing diaphysis of ulna The body of the ulna at its upper part is prismatic in form, and curved so as to be convex behind and lateralward; its central part is straight; its lower part is rounded, smooth, and bent a little lateralward. It tapers gradually from above downward, and has three borders and three surfaces. tmpak2llvmy_mondo_relaxed.owl ulnar diaphysis|corpus ulnae|supinator crest|body of ulna|shaft of ulna owl:Class MONDO:0020062 biolink:NamedThing chromosome X structural anomaly tmpak2llvmy_mondo_relaxed.owl ICD10:Q99.8|Orphanet:98159 owl:Class UBERON:0035298 biolink:NamedThing tuberculum sellae An elevated zone of the sella turcica behind the chiasmatic groove[WP,modified]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004268 biolink:NamedThing lower arm connective tissue A portion of connective tissue that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003621 biolink:NamedThing small intestinal vasoactive intestinal peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. tmpak2llvmy_mondo_relaxed.owl small intestinal vasoactive intestinal peptide producing tumor|small intestinal VIP-producing NET|small intestinal VIP producing tumor|small intestinal VIPoma|small intestinal VIP-producing neuroendocrine tumor DOID:5740|UMLS:C1336009|NCIT:C27455 owl:Class MONDO:0016341 biolink:NamedThing lysosomal disease with restrictive cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:217638|UMLS:CN201171 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class MONDO:0018907 biolink:NamedThing craniopharyngioma A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl craniopharyngioma (morphologic abnormality)|Rathke pouch neoplasm|Adamantinomatous tumor|neoplasm of Rathke's pouch|Rathke pouch tumor|craniopharyngioma, benign|craniopharyngeal duct tumor|craniopharyngioma (WHO grade I)|cystoma|Rathke's pouch tumor|Dysodontogenic epithelial tumor|tumor of Rathke's pouch|Rathke's pouch neoplasm SCTID:189179009|GARD:0010486|UMLS:C0010276|Orphanet:54595|MESH:D003397|ICD10:D44.4|EFO:1000209|DOID:3840|NCIT:C2964|MedDRA:10011318|ICD9:237.0|ICDO:9350/1 owl:Class MONDO:0002720 biolink:NamedThing sella turcica neoplasm A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. tmpak2llvmy_mondo_relaxed.owl sellar tumor|sella turcica tumor|neoplasm of sella turcica|neoplasm of the sella turcica|sellar neoplasm|tumor of the sella turcica|selt|tumor of sella turcica|sella turcica neoplasm NCIT:C4944|DOID:3643|ONCOTREE:SELT|UMLS:C0748616 owl:Class MONDO:0016935 biolink:NamedThing partial duplication of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome type 17|partial trisomy of chromosome 17 SCTID:726356000|UMLS:C4518505|Orphanet:262677 owl:Class MONDO:0006773 biolink:NamedThing gonadal tissue neoplasm Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells. tmpak2llvmy_mondo_relaxed.owl UMLS:C0206722|MESH:D018309|EFO:1000953 owl:Class UBERON:0003619 biolink:NamedThing aorta tunica intima The innermost layer of the aorta, containing the endothelium and an inner elastic membrane. tmpak2llvmy_mondo_relaxed.owl tunica intima of adult aorta|dorsal aorta tunica intima|tunica intima of aorta|trunk of aortic tree tunica intima|tunica intima of dorsal aorta|tunica intima of trunk of aortic tree|adult aorta tunica intima owl:Class UBERON:0002523 biolink:NamedThing tunica intima The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. tmpak2llvmy_mondo_relaxed.owl Bichat's tunic|intima|tunica intima vasorum owl:Class MONDO:0019726 biolink:NamedThing type II mixed cryoglobulinemia Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). tmpak2llvmy_mondo_relaxed.owl MC type II ICD10:D89.1|UMLS:CN206633|Orphanet:93554 owl:Class MONDO:0054867 biolink:NamedThing paraomphalocele tmpak2llvmy_mondo_relaxed.owl Paraomphalocele, epigastric|Paraomphalocele, hypogastric MESH:C537170 owl:Class MONDO:0009264 biolink:NamedThing gastroschisis Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. tmpak2llvmy_mondo_relaxed.owl gastroschisis|abdominal wall defects|eventration|congenital fissure of the abdominal cavity|laparoschisis OMIM:230750|SCTID:72951007|DOID:11044|Orphanet:2368|GARD:0008661|MESH:D020139|ICD9:756.73|NCIT:C84725|ICD10:Q79.3|MedDRA:10018046|UMLS:C0265706|EFO:1000949 https://rarediseases.info.nih.gov/diseases/8661/gastroschisis owl:Class GO:0045738 biolink:NamedThing negative regulation of DNA repair Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. tmpak2llvmy_mondo_relaxed.owl down regulation of DNA repair|down-regulation of DNA repair|downregulation of DNA repair|inhibition of DNA repair owl:Class MONDO:0019691 biolink:NamedThing short rib dysplasia tmpak2llvmy_mondo_relaxed.owl short-rib dysplasia (with or without polydactyly)|ciliopathies with major skeletal involvement|SRP ICD10:Q77.2|ICD9:756.3|Orphanet:93426|SCTID:254050009 owl:Class NCBITaxon:782 biolink:NamedThing Rickettsia prowazekii tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:15879256 ncbi_taxonomy owl:Class NCBITaxon:114292 biolink:NamedThing typhus group tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032833 biolink:NamedThing lower urinary tract obstruction, congenital tmpak2llvmy_mondo_relaxed.owl LUTO|LOWER URINARY TRACT OBSTRUCTION, CONGENITAL OMIM:618612 owl:Class MONDO:0013246 biolink:NamedThing fatty liver disease, nonalcoholic, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2 OMIM:613387 owl:Class MONDO:0013209 biolink:NamedThing non-alcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. tmpak2llvmy_mondo_relaxed.owl non-alcoholic fatty liver disease|nonalcoholic fatty liver disease|NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|fatty liver disease, nonalcoholic|NAFLD - nonalcoholic fatty liver disease|non-alcoholic fatty liver|liver disease, alcoholic, susceptibility to, 1 NCIT:C84444|EFO:1001248|DOID:0080208|SCTID:197315008|EFO:0003095|MedDRA:10029530|MESH:D065626|ICD9:571.8 owl:Class MONDO:0017462 biolink:NamedThing congenital pseudoarthrosis of the tibia A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1. tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of tibia|congenital pseudarthrosis of the tibia UMLS:C0265661|NCIT:C132080|Orphanet:295018|SCTID:55379003|ICD10:Q74.2 owl:Class MONDO:0015525 biolink:NamedThing congenital pseudoarthrosis of the limbs tmpak2llvmy_mondo_relaxed.owl congenital pseudoarthrosis|congenital pseudarthrosis of the limbs Orphanet:157808|MESH:C535762|GARD:0009722 https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis owl:Class MONDO:0007519 biolink:NamedThing Edinburgh malformation syndrome Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. tmpak2llvmy_mondo_relaxed.owl Edinburgh malformation syndrome|typus Edinburgensis MESH:C563051|Orphanet:1895|UMLS:C0795933|OMIM:129850|ICD10:Q95.2|GARD:0002074 https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome owl:Class CHEBI:32988 biolink:NamedThing amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpak2llvmy_mondo_relaxed.owl amides|Amide owl:Class HGNC:11763 biolink:NamedThing TFRC tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26899 biolink:NamedThing TMTC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016434 biolink:NamedThing acquired dermis elastic tissue disorder An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired dermis elastic tissue disorder Orphanet:228218|UMLS:CN226927 owl:Class MONDO:0044786 biolink:NamedThing solid pseudopapillary neoplasm of the pancreas A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. tmpak2llvmy_mondo_relaxed.owl solid pseudopapillary neoplasm of the pancreas|Frantz tumor|solid pseudopapillary tumor of the pancreas NCIT:C37212|ONCOTREE:SPN owl:Class GO:0070257 biolink:NamedThing positive regulation of mucus secretion Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl positive regulation of mucus production owl:Class MONDO:0008769 biolink:NamedThing neuronal ceroid lipofuscinosis 2 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpak2llvmy_mondo_relaxed.owl neuronal ceroid lipofuscinosis 2 variable age at onset|late infantile neuronal ceroid lipofuscinosis|Jansky-Bielschowsky disease|ceroid lipofuscinosis, neuronal, 2|neuronal ceroid lipofuscinosis caused by mutation in TPP1|ceroid lipofuscinosis, neuronal, type 2|CLN2 disease, late infantile (subtype)|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|neuronal ceroid lipofuscinosis type 2|CLN2|TPP1 neuronal ceroid lipofuscinosis|CLN2 disease|CLN2 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis, late infantile DOID:0110726|ICD10:E75.4|Orphanet:228349|OMIM:204500|GARD:0003045|NCIT:C85864 owl:Class MONDO:0700061 biolink:NamedThing mosaic vs complete A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0005249 biolink:NamedThing metanephric renal pelvis A renal pelvis that is part of a metanephros. tmpak2llvmy_mondo_relaxed.owl metanephros pelvis owl:Class UBERON:0010850 biolink:NamedThing tibia pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a tibia. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1713 biolink:NamedThing CDAN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013341 biolink:NamedThing methylmalonic acidemia due to transcobalamin receptor defect Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria due to transcobalamin receptor defect|CD320 methylmalonic acidemia|methylmalonic acidemia caused by mutation in CD320|methylmalonic acidemia, TCb1R type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia, TCbIR type|methylmalonic acidemia, Tcblr type ICD10:E71.1|OMIM:613646|Orphanet:280183|DOID:0060741|UMLS:C3150900 owl:Class HP:0003560 biolink:NamedThing Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. tmpak2llvmy_mondo_relaxed.owl Muscle biopsy shows dystrophic changes UMLS:C1864711|MSH:D009136|SNOMEDCT_US:193225000|UMLS:C0026850|SNOMEDCT_US:73297009 Muscular dystrophy can be demonstrated by muscle biopsy. HP:0003806|HP:0003544 human_phenotype owl:Class NCBITaxon:6296 biolink:NamedThing Onchocercidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:33297|NCBITaxon:6297 ncbi_taxonomy owl:Class NCBITaxon:6295 biolink:NamedThing Filarioidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019182 biolink:NamedThing monogenic obesity tmpak2llvmy_mondo_relaxed.owl genetic obesity (disease)|monogenic obesity|genetic obesity ICD10:E66.8|OMIM:601665|Orphanet:77828 We place OMIM:601665 here, although this includes owl:Class MONDO:0009817 biolink:NamedThing autosomal recessive osteopetrosis 5 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive osteopetrosis 5|osteopetrosis, infantile malignant 3|OSTM1 osteopetrosis (disease)|osteopetrosis, autosomal recessive 5|autosomal recessive osteopetrosis type 5|osteopetrosis autosomal recessive 5|OPTB5|osteopetrosis, autosomal recessive type 5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis infantile malignant 3|infantile malignant osteopetrosis 3 DOID:0110939|MESH:C566883|OMIM:259720|GARD:0004153 https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5 owl:Class MONDO:0013840 biolink:NamedThing encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. tmpak2llvmy_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 5|coenzyme Q10 deficiency, primary, type 5|COQ10D5 Orphanet:319678|ICD10:E88.8|OMIM:614654|DOID:0070242|UMLS:C3553374 owl:Class NCBITaxon:6250 biolink:NamedThing Ascarididae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012601 biolink:NamedThing autism, susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 10|AUTS10 OMIM:611016 owl:Class UBERON:0004756 biolink:NamedThing dermal skeletal element dermis-derived entity that is made of skeletal tissue. tmpak2llvmy_mondo_relaxed.owl dermal element owl:Class MONDO:0009553 biolink:NamedThing Plasmodium falciparum blood infection level tmpak2llvmy_mondo_relaxed.owl Plasmodium falciparum parasitemia|Pfbi|Plasmodium falciparum blood infection level OMIM:248310 owl:Class UBERON:0001774 biolink:NamedThing skeletal muscle of trunk A skeletal muscle organ that is part of the trunk region. tmpak2llvmy_mondo_relaxed.owl trunk musculature|muscle of trunk|body musculature|trunk muscle organ|trunk muscle|muscle organ of trunk|torso muscle organ|muscle organ of torso owl:Class MONDO:0002624 biolink:NamedThing bone leiomyosarcoma A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl bone tissue leiomyosarcoma|leiomyosarcoma of bone tissue|bone leiomyosarcoma|leiomyosarcoma of bone UMLS:C1332579|NCIT:C7154|DOID:3367 owl:Class MONDO:0005527 biolink:NamedThing toxic encephalopathy A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. tmpak2llvmy_mondo_relaxed.owl neurotoxicity|neurotoxicity syndrome|neurotoxicity syndromes MESH:D020258|ICD9:349.82|SCTID:28394000|Wikipedia:Toxic_encephalopathy|GARD:0007199|EFO:0005595|NCIT:C27961|DOID:3602|ICD10:G92 owl:Class MONDO:0045016 biolink:NamedThing cholesterol catabolic process disease A disease that has its basis in the disruption of cholesterol catabolic process. tmpak2llvmy_mondo_relaxed.owl cholesterol catabolism disease|disorder of cholesterol catabolism|disorder of cholesterol catabolic process SCTID:238032002|UMLS:C0342825 owl:Class MONDO:0008671 biolink:NamedThing Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF gene. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome type 2 caused by mutation in MITF|MITF Waardenburg syndrome type 2|Waardenburg syndrome without dystopia canthorum|Waardenburg syndrome type IIA|Ws2|WS2A|Waardenburg syndrome type 2A|Waardenburg syndrome, type 2A GARD:0005521|MESH:C536464|DOID:0110950|OMIM:193510|NCIT:C75011 https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a owl:Class MONDO:0003157 biolink:NamedThing disappearing bone disease Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. tmpak2llvmy_mondo_relaxed.owl Gorham's disease|Gorham-Stout syndrome|phantom bone disease|massive osteolysis|essential osteolysis ICD9:733.09|DOID:4837|SCTID:240161003|UMLS:C0029436 owl:Class MONDO:0003001 biolink:NamedThing seminoma A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. tmpak2llvmy_mondo_relaxed.owl seminoma, pure|seminoma, malignant|seminoma MESH:D018239|NCIT:C9309|ONCOTREE:SEM|ICD9:186.9|DOID:4440|ICDO:9061/3|SCTID:443675005 owl:Class MONDO:0005693 biolink:NamedThing cauda equina syndrome Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. tmpak2llvmy_mondo_relaxed.owl cauda equina syndromic disease|syndromic disease of cauda equina EFO:0007196|DOID:11577|ICD9:344.6|SCTID:192970008|NCIT:C35436|ICD10:G83.4|UMLS:C0392548|GARD:0010987 https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome owl:Class MONDO:0003111 biolink:NamedThing gastric neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl neuroendocrine neoplasm of stomach|neuroendocrine tumor of stomach|neuroendocrine tumor of the stomach|NET of stomach|stomach NET|stomach neuroendocrine tumor|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the stomach|gastric neuroendocrine neoplasm|stomach neuroendocrine neoplasm DOID:4715|NCIT:C5696|UMLS:C1333783|Orphanet:100075|SCTID:721194008 owl:Class MONDO:0011726 biolink:NamedThing peripheral arterial occlusive disease 1 tmpak2llvmy_mondo_relaxed.owl peripheral arterial occlusive disease type 1|peripheral arterial occlusive disease 1|Paod1 OMIM:606787|MESH:C564658|UMLS:C1847493 owl:Class MONDO:0017158 biolink:NamedThing pulmonary hypertension with unclear multifactorial mechanism tmpak2llvmy_mondo_relaxed.owl PH with unclear multifactorial mechanism 2022-03-01 Orphanet:275844 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0005149 biolink:NamedThing pulmonary hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. tmpak2llvmy_mondo_relaxed.owl EFO:0001361|DOID:6432|SCTID:70995007|ICD10:I27.2|MESH:D006976 owl:Class PR:000001889 biolink:NamedThing CD14 molecule tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003458 biolink:NamedThing neck bone A bone that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bone organ of neck|bone organ of neck (volume)|bone of neck (volume)|bone of neck|neck (volume) bone organ|neck (volume) bone|neck bone organ owl:Class HP:0002651 biolink:NamedThing Spondyloepimetaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:254062008|UMLS:C0432211 human_phenotype owl:Class HP:0002652 biolink:NamedThing Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. tmpak2llvmy_mondo_relaxed.owl Abnormal skeletal development SNOMEDCT_US:105985007|MSH:D010009|SNOMEDCT_US:240190009|UMLS:C0029422|UMLS:C4280567 The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. HP:0005685 human_phenotype owl:Class HP:0010301 biolink:NamedThing Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. tmpak2llvmy_mondo_relaxed.owl Incomplete closure of the vertebral arch MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. peter 2009-07-12T12:58:04Z human_phenotype owl:Class HGNC:12335 biolink:NamedThing TRPC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011317 biolink:NamedThing microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects tmpak2llvmy_mondo_relaxed.owl microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects OMIM:603394|UMLS:C1863919|MESH:C566377 owl:Class CL:0000228 biolink:NamedThing multinucleate cell A cell with more than one nucleus. tmpak2llvmy_mondo_relaxed.owl syncitium|syncytium|syncytial cell AEO:0000203|WBbt:0008074 cell owl:Class UBERON:0014451 biolink:NamedThing tongue taste bud A taste bud that is located on the tongue, situated on a gustatory papilla. tmpak2llvmy_mondo_relaxed.owl gustatory papillae taste bud|gustatory papilla taste bud owl:Class GO:0042327 biolink:NamedThing positive regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. tmpak2llvmy_mondo_relaxed.owl up regulation of phosphorylation|activation of phosphorylation|stimulation of phosphorylation|upregulation of phosphorylation|up-regulation of phosphorylation owl:Class MONDO:0005499 biolink:NamedThing brain glioma A malignant glioma that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain malignant glioma|malignant glioma of brain SCTID:254937005|DOID:0060108|EFO:0005543|UMLS:C0349661 owl:Class HGNC:18294 biolink:NamedThing ALG1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26690 biolink:NamedThing CEP120 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001535 biolink:NamedThing vagus nerve disease A disease involving the vagus nerve. tmpak2llvmy_mondo_relaxed.owl disease or disorder of vagus nerve|disease of vagus nerve|disorder of vagus nerve|vagus nerve disease or disorder|vagus nerve disease|Vagus nerve disorder|disorder of vagal nerve|disorder of pneumogastric [10th] nerve ICD10:G52.2|ICD9:352.3|DOID:12491|SCTID:73765005|UMLS:C0152179|MESH:D020421|NCIT:C27591 owl:Class MONDO:0044964 biolink:NamedThing oral cavity mucoepidermoid carcinoma A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination. tmpak2llvmy_mondo_relaxed.owl oral cavity mucoepidermoid carcinoma|mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid cancer UMLS:C0280309|NCIT:C8177 owl:Class MONDO:0014377 biolink:NamedThing developmental and epileptic encephalopathy, 24 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene. tmpak2llvmy_mondo_relaxed.owl DEE24|HCN1 early infantile epileptic encephalopathy|EIEE24|epileptic encephalopathy, early infantile, type 24|epileptic encephalopathy, early infantile, 24|early infantile epileptic encephalopathy caused by mutation in HCN1 OMIM:615871|UMLS:C4014531|DOID:0080429 owl:Class GO:0005497 biolink:NamedThing androgen binding Binding to an androgen, a male sex hormone. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042562 biolink:NamedThing hormone binding Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015627 biolink:NamedThing multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. tmpak2llvmy_mondo_relaxed.owl SCTID:766717008|DOID:0070305|ICD10:Q77.3|Orphanet:166002 owl:Class UBERON:0035505 biolink:NamedThing right inguinal part of abdomen tmpak2llvmy_mondo_relaxed.owl right iliac fossa viewed surgically|right inguinal region|right iliac region owl:Class HGNC:4206 biolink:NamedThing OPN1MW tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013033 biolink:NamedThing cerebral palsy, spastic quadriplegic, 2 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. tmpak2llvmy_mondo_relaxed.owl CPSQ2|cerebral palsy, spastic quadriplegic, type 2|cerebral palsy, spastic quadriplegic, 2|spastic quadriplegia caused by mutation in KANK1|KANK1 spastic quadriplegia OMIM:612900|MESH:C567867|UMLS:C2752061 owl:Class MONDO:0016215 biolink:NamedThing spastic quadriplegic cerebral palsy A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. tmpak2llvmy_mondo_relaxed.owl tetraplegic infantile cerebral palsy|inherited congenital spastic quadriplegia|inherited congenital spastic tetraplegia|spastic quadriplegia|quadriplegic infantile cerebral palsy|spastic quadriplegic cerebral palsy NCIT:C116904|OMIMPS:612900|DOID:10970|Orphanet:210141|SCTID:192965001|ICD10:G11.4|ICD9:344.09|UMLS:C0154697|OMIMPS:603513|ICD9:343.2 owl:Class MONDO:0003103 biolink:NamedThing nerve root neoplasm Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. tmpak2llvmy_mondo_relaxed.owl tumor of nerve root|nerve Root neoplasms|tumor of nerve Root|neoplasm of nerve Root|nerve Root tumors|neoplasm of the nerve Root|nerve root neoplasm (disease)|nerve Root tumor|neoplasm of nerve root|tumor of the nerve Root|nerve root tumor|neoplasms, nerve Root NCIT:C5119|DOID:4698|UMLS:C1334946 owl:Class MONDO:0013290 biolink:NamedThing agammaglobulinemia 5, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. tmpak2llvmy_mondo_relaxed.owl agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|AGM5|LRRC8A autosomal agammaglobulinemia|agammaglobulinemia 5, autosomal dominant|autosomal agammaglobulinemia caused by mutation in LRRC8A UMLS:C3150753|OMIM:613506|DOID:0080588 owl:Class MONDO:0006792 biolink:NamedThing hyperglobulinemic purpura Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. tmpak2llvmy_mondo_relaxed.owl DOID:3325|MESH:D011694|EFO:1000972|UMLS:C0034151|SCTID:402852007 owl:Class MONDO:0002610 biolink:NamedThing purpura A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. tmpak2llvmy_mondo_relaxed.owl purpuric disorder|purpura|purpura (disease) purpura (disease) UMLS:C0034150|HP:0000979|MESH:D011693|DOID:3326|SCTID:387778001|ICD10:D69.2 owl:Class ENVO:00000428 biolink:NamedThing biome A biome is an ecosystem to which resident ecological communities have evolved adaptations. tmpak2llvmy_mondo_relaxed.owl EcosytemType|major habitat type owl:Class MONDO:0003286 biolink:NamedThing extrahepatic bile duct leiomyoma A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct leiomyoma|leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct DOID:5125|NCIT:C5855|UMLS:C1333507 owl:Class MONDO:0016371 biolink:NamedThing combined hyperactive dysfunction syndrome of the cranial nerves tmpak2llvmy_mondo_relaxed.owl Orphanet:221078|UMLS:CN201241 owl:Class MONDO:0016374 biolink:NamedThing cranial neuralgia A neuralgia that involves the cranial neuron projection bundle. tmpak2llvmy_mondo_relaxed.owl neuralgia of cranial neuron projection bundle|facial neuralgia|cranial neuron projection bundle neuralgia UMLS:C0010269|SCTID:23096007|Orphanet:221109 owl:Class GO:0008037 biolink:NamedThing cell recognition The process in which a cell in an organism interprets its surroundings. tmpak2llvmy_mondo_relaxed.owl recognition of surroundings by cell owl:Class GO:0051038 biolink:NamedThing negative regulation of transcription involved in meiotic cell cycle Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl down regulation of transcription during meiosis|down-regulation of transcription during meiosis|meiotic repression of transcription|negative regulation of transcription, meiotic|inhibition of transcription during meiosis|downregulation of transcription during meiosis|negative regulation of meiotic transcription owl:Class GO:0045892 biolink:NamedThing negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. tmpak2llvmy_mondo_relaxed.owl transcription repressor activity|down-regulation of gene-specific transcription|down-regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|down regulation of transcription, DNA-dependent|negative regulation of gene-specific transcription|negative regulation of cellular transcription, DNA-dependent|downregulation of transcription, DNA-dependent|inhibition of gene-specific transcription|downregulation of gene-specific transcription|down regulation of gene-specific transcription|inhibition of transcription, DNA-dependent owl:Class MONDO:0013625 biolink:NamedThing Parkinson disease 17 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. tmpak2llvmy_mondo_relaxed.owl PARK17|Parkinson disease 17|VPS35 Parkinson disease|autosomal dominant Parkinson disease 17|Parkinson disease caused by mutation in VPS35|Parkinson disease type 17|Parkinson's disease 17 OMIM:614203|UMLS:C3280133|DOID:0060897 owl:Class HGNC:8853 biolink:NamedThing PEX11B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002713 biolink:NamedThing negative regulation of B cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl negative regulation of B lymphocyte mediated immunity|negative regulation of B-lymphocyte mediated immunity|down regulation of B cell mediated immunity|negative regulation of B-cell mediated immunity|inhibition of B cell mediated immunity|down-regulation of B cell mediated immunity|downregulation of B cell mediated immunity owl:Class MONDO:0005710 biolink:NamedThing composite lymphoma Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. tmpak2llvmy_mondo_relaxed.owl composite lymphoma|composite Hodgkin and non-Hodgkin lymphoma UMLS:C1266191|DOID:5820|Orphanet:168966|UMLS:C0545080|EFO:0007215|NCIT:C38661|MESH:D058617|ICDO:9596/3 owl:Class UBERON:0004931 biolink:NamedThing submucosa of descending colon A submucosa that is part of a descending colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl descending colon submucosa owl:Class MONDO:0045049 biolink:NamedThing hypermature cataract tmpak2llvmy_mondo_relaxed.owl hypermature cataract SCTID:267626000|ICD9:366.18 owl:Class CHEBI:33246 biolink:NamedThing inorganic group Any substituent group which does not contain carbon. tmpak2llvmy_mondo_relaxed.owl inorganic groups owl:Class GO:0019220 biolink:NamedThing regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpak2llvmy_mondo_relaxed.owl regulation of phosphate metabolism owl:Class MONDO:0008547 biolink:NamedThing thanatophoric dysplasia type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. tmpak2llvmy_mondo_relaxed.owl thanatophoric dwarfism - cloverleaf skull|thanatophoric dwarfism-cloverleaf skull syndrome|thanatophoric dysplasia with Kleeblattschaedel|TD2|thanatophoric dysplasia, type II|thanatophoric dysplasia, type 2|type 2 thanatophoric dysplasia|thanatophoric dysplasia with straight femurs and cloverleaf skull|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dwarfism type 2|thanatophoric dysplasia type II|cloverleaf skull with thanatophoric dwarfism ICD9:742.59|Orphanet:93274|UMLS:CN206542|MESH:C536508|SCTID:389158007|NCIT:C98584|ICD10:Q77.1|UMLS:C1300257|GARD:0001402|OMIM:187601 https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 owl:Class MONDO:0011657 biolink:NamedThing autosomal dominant nonsyndromic deafness 24 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 24|deafness, autosomal dominant nonsyndromic sensorineural 24|autosomal dominant nonsyndromic deafness type 24|DFNA24|autosomal dominant deafness 24|DFNA 24 GARD:0009166|DOID:0110554|MESH:C565239|OMIM:606282|UMLS:C1853451|ICD10:H90.3 owl:Class MONDO:0023558 biolink:NamedThing Kocher-debre-Semelaigne syndrome tmpak2llvmy_mondo_relaxed.owl association of muscular pseudohypertrophy and hypothyroidism in children|Kocher debre Semelaigne disease GARD:0008270|MESH:C537211 https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome owl:Class MONDO:0016543 biolink:NamedThing hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. tmpak2llvmy_mondo_relaxed.owl hyperphenylalaninemia due to BH4 deficiency|hyperphenylalaninemia|non-phenylketonuric hyperphenylalaninemia|hyperphenylalaninemia due to tetrahydrobiopterin deficiency ICD10:E70.1|Orphanet:238583|UMLS:C0751435|GARD:0007751|SCTID:68528007 owl:Class PATO:0002062 biolink:NamedThing physical quality of a process tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018390 biolink:NamedThing male infertility due to sperm disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227338|ICD10:N46|Orphanet:399771 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class GO:0030210 biolink:NamedThing heparin biosynthetic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpak2llvmy_mondo_relaxed.owl heparan sulfate biosynthetic process|heparin biosynthesis|heparin formation|heparin synthesis|heparin anabolism owl:Class GO:0044272 biolink:NamedThing sulfur compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpak2llvmy_mondo_relaxed.owl sulfur compound anabolism|sulfur biosynthesis|sulfur compound synthesis|sulfur compound biosynthesis|sulfur biosynthetic process|sulfur compound formation owl:Class MONDO:0003680 biolink:NamedThing periosteal chondrosarcoma A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. tmpak2llvmy_mondo_relaxed.owl chondrosarcoma (disease) of periosteum|juxtacortical chondrosarcoma|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|periosteum chondrosarcoma (disease) DOID:5859|ICDO:9221/3|DOID:5866|NCIT:C7357|UMLS:C0334549 MONDO:0003683 owl:Class MONDO:0008977 biolink:NamedThing chondrosarcoma A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. tmpak2llvmy_mondo_relaxed.owl chondrosarcoma, malignant|primary chondrosarcoma of the bone|chondrosarcoma of bone|chondrosarcoma (disease)|chondrosarcoma chondrosarcoma (disease) MESH:D002813|GARD:0006055|MedDRA:10008734|SCTID:443520009|ICD9:170.9|HP:0006765|EFO:0000333|ONCOTREE:CHS|Orphanet:55880|DOID:3371|OMIM:215300|NCIT:C2946|ICD10:C49.9|ICDO:9220/3|UMLS:C0008479 owl:Class HGNC:5950 biolink:NamedThing IGSF3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9823 biolink:NamedThing RAD51D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001804 biolink:NamedThing anterior scleritis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155353|ICD9:379.03|ICD10:H15.01|DOID:13794|SCTID:63454000 owl:Class MONDO:0001718 biolink:NamedThing scleritis Inflammation of the sclera. tmpak2llvmy_mondo_relaxed.owl scleritis (disease)|scleritis scleritis (disease) SCTID:78370002|ICD9:379.00|MESH:D015423|NCIT:C119046|GARD:0012911|ICD10:H15.0|DOID:13452|UMLS:C0036416|ICD10:H15.00|HP:0100532 owl:Class MONDO:0004435 biolink:NamedThing liver fibrosarcoma A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma of liver|liver fibrosarcoma (disease)|fibrosarcoma of the liver|hepatic fibrosarcoma|liver fibrosarcoma UMLS:C1333966|DOID:8022|NCIT:C5832 owl:Class MONDO:0000771 biolink:NamedThing allergic respiratory disease A respiratory system disease with a basis in a pathological type I hypersensitivity reaction. tmpak2llvmy_mondo_relaxed.owl allergic form of respiratory system disease|airway allergy|respiratory allergy|allergic respiratory system disease DOID:0060496 owl:Class UBERON:0006671 biolink:NamedThing orbital fat pad A fat pad that is part of a orbital region. tmpak2llvmy_mondo_relaxed.owl orbital fat body|intraorbital fat pad|retrobulbar fat|orbital fat owl:Class MONDO:0005774 biolink:NamedThing glanders A condition resulting from infection by Burkholderia mallei, which mainly affects horses. tmpak2llvmy_mondo_relaxed.owl farcy pipes|Burkholderia mallei disease or disorder|Burkholderia mallei caused disease or disorder|Burkholderia mallei infection|infection due to Pseudomonas mallei|Burkholderia mallei|Burkholderia mallei infectious disease EFO:0007286|NCIT:C34638|DOID:13444|SCTID:4639008|MESH:D005896|UMLS:C0017589|ICD9:024|ICD10:A24.0|GARD:0009536 https://rarediseases.info.nih.gov/diseases/9536/glanders owl:Class MONDO:0043953 biolink:NamedThing burkholderia infectious disease Infections with bacteria of the genus Burkholderia. tmpak2llvmy_mondo_relaxed.owl infection caused by Burkholderia|Burkholderia caused disease or disorder|infection, Burkholderia|infections, Burkholderia|Burkholderia disease or disorder|Burkholderia infectious disease|burkholderia infectious disease|Burkholderia infection MESH:D019121|SCTID:721736003|EFO:1001280 owl:Class MONDO:0000934 biolink:NamedThing laryngeal leiomyoma A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl laryngeal leiomyoma|leiomyoma of the larynx|larynx leiomyoma|leiomyoma of larynx NCIT:C6027|UMLS:C1334370|DOID:10070 owl:Class PATO:0002422 biolink:NamedThing acinar Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007147 biolink:NamedThing lumen of midgut An anatomical cavity that surrounded_by a midgut. tmpak2llvmy_mondo_relaxed.owl midgut lumen owl:Class UBERON:0003552 biolink:NamedThing telencephalon pia mater A pia mater that is part of a telencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pia mater of neuraxis of telencephalon|pia mater of telencephalon|telencephalon pia mater of neuraxis owl:Class HGNC:11277 biolink:NamedThing SPTLC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009566 biolink:NamedThing marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Marfanoid intellectual disability syndrome autosomal|Marfanoid mental retardation syndrome autosomal|MARFANOID intellectual disability syndrome, autosomal|MARFANOID mental retardation syndrome, autosomal Orphanet:2463|MESH:C565410|OMIM:248770|ICD10:Q87.8|UMLS:C1855347|GARD:0003388 owl:Class MONDO:0020791 biolink:NamedThing corneal dystrophy, Meesmann, 1 tmpak2llvmy_mondo_relaxed.owl Meesmann Corneal Dystrophy|MECD1|Corneal Dystrophy, Meesmann Epithelial|CORNEAL DYSTROPHY, MEESMANN, 1|Corneal Dystrophy, Juvenile Epithelial, of Meesmann OMIM:122100 owl:Class MONDO:0024286 biolink:NamedThing benign blood vessel neoplasm A benign neoplasm arising from arteries or veins. tmpak2llvmy_mondo_relaxed.owl benign blood vessel tumor|benign blood vessel neoplasm NCIT:C8537|UMLS:C0685121 owl:Class UBERON:0004876 biolink:NamedThing urogenital fold One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. tmpak2llvmy_mondo_relaxed.owl urogenital fold|urogenital ridge|urethral fold owl:Class MONDO:0012715 biolink:NamedThing migraine with or without aura, susceptibility to, 12 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, 12|MGR12 OMIM:611706 owl:Class MONDO:0009529 biolink:NamedThing pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase E3 deficiency|maple syrup urine disease, type 3|lipoamide dehydrogenase deficiency, lactic acidosis due to|DLD deficiency|E3-deficient maple syrup urine disease|DLDD|Dld deficiency|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, type III|E3 deficiency SCTID:29914000|GARD:0003263|UMLS:C0268193|ICD10:E74.4|Orphanet:2394|UMLS:CN043137|OMIM:246900 owl:Class MONDO:0003813 biolink:NamedThing ovarian papillary tumor A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl ovarian papillary tumor (morphologic abnormality)|ovarian papillary tumour|papillary tumor of the ovary|papillary tumor of ovary|papillary neoplasm of the ovary|ovarian papillary tumor|papillary neoplasm of ovary|ovarian papillary neoplasm DOID:6214|NCIT:C8430|UMLS:C0476121 owl:Class MONDO:0030015 biolink:NamedThing bone marrow failure syndrome 6 tmpak2llvmy_mondo_relaxed.owl BMFS6|bone marrow failure syndrome 6|BONE MARROW FAILURE SYNDROME 6 OMIM:618849 owl:Class MONDO:0003641 biolink:NamedThing central nervous system hematopoietic neoplasm A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias. tmpak2llvmy_mondo_relaxed.owl hematopoietic neoplasm of the CNS|central nervous system hematopoietic tumor|central nervous system hematopoietic neoplasm|central nervous system hematopoietic and lymphoid system neoplasm|hematopoietic neoplasm of central nervous system|hematopoietic and lymphoid system neoplasm of central nervous system|central nervous system hematologic cancer|central nervous system hematopoietic neoplasms|lymphomas and hemopoietic neoplasms of the CNS|hematopoietic tumor of the central nervous system|hematopoietic neoplasm of CNS|CNS hematopoietic neoplasm|hematopoietic tumor of central nervous system|hematopoietic neoplasm of the central nervous system|lymphomas and hemopoietic neoplasms of CNS|CNS hematopoietic tumor DOID:5772|NCIT:C5503|UMLS:C1332882 owl:Class CHEBI:83876 biolink:NamedThing cationic sphingoid An organic cation obtained by protonation of the amino function of any sphingoid tmpak2llvmy_mondo_relaxed.owl sphingoid cations|sphingoid cation|cationic sphingoids owl:Class MONDO:0044983 biolink:NamedThing benign lipomatous neoplasm A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. tmpak2llvmy_mondo_relaxed.owl benign adipose tissue tumor|benign neoplasm of the adipose tissue|benign tumor of the adipose tissue|adipose tissue benign connective and soft tissue neoplasm|benign neoplasm of adipose tissue|benign connective and soft tissue neoplasm of adipose tissue|benign adipose tissue neoplasm|benign lipomatous neoplasm|benign tumor of adipose tissue|benign lipomatous tumor NCIT:C4502 owl:Class MONDO:0007230 biolink:NamedThing Brachymorphism-onychodysplasia-dysphalangism syndrome Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. tmpak2llvmy_mondo_relaxed.owl Brachymorphism-onychodysplasia-dysphalangism syndrome|bod syndrome|Brachymorphism onychodysplasia dysphalangism syndrome|Senior syndrome MESH:C536242|ICD10:Q87.1|Orphanet:1292|GARD:0000918|OMIM:113477|SCTID:720573009|UMLS:C1862082 owl:Class MONDO:0012197 biolink:NamedThing idiopathic aplastic anemia Aplastic anemia without a known cause. tmpak2llvmy_mondo_relaxed.owl idiopathic bone marrow failure|aplastic Anemia, susceptibility to|aplastic anemia|idiopathic aplastic aplasia|anemia aplastic|secondary aplastic anemia|aplastic anemia idiopathic ICD10:D61.0|UMLS:C0348890|OMIM:609135|Orphanet:88|GARD:0005836|SCTID:191256002|MESH:C538494|NCIT:C61230|ICD10:D61.3 owl:Class GO:0033238 biolink:NamedThing regulation of cellular amine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. tmpak2llvmy_mondo_relaxed.owl regulation of amine metabolism owl:Class GO:0008284 biolink:NamedThing positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation. tmpak2llvmy_mondo_relaxed.owl up regulation of cell proliferation|up-regulation of cell proliferation|stimulation of cell proliferation|upregulation of cell proliferation|positive regulation of cell proliferation|activation of cell proliferation owl:Class UBERON:0002122 biolink:NamedThing capsule of thymus The fibrous connective tissue surrounding the thymus. tmpak2llvmy_mondo_relaxed.owl thymic capsule|thymus capsule owl:Class MONDO:0005584 biolink:NamedThing congenital left-sided heart lesions Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth. tmpak2llvmy_mondo_relaxed.owl EFO:0005938 owl:Class MONDO:0000226 biolink:NamedThing mineral metabolism disease tmpak2llvmy_mondo_relaxed.owl disorder of mineral metabolism|disease of mineral metabolism ICD9:275.8|ICD9:275.9|SCTID:45744005|ICD10:E83 owl:Class MONDO:0004889 biolink:NamedThing total central choroidal atrophy tmpak2llvmy_mondo_relaxed.owl central gyrate choroidal dystrophy|choroidal dystrophy, serpiginous|helicoid choroid dystrophy|total central choroidal atrophy|total central dystrophy of choroid|total central choroid atrophy DOID:9820|UMLS:C0154898|ICD9:363.54|SCTID:392049002 owl:Class MONDO:0008982 biolink:NamedThing central areolar choroidal dystrophy Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. tmpak2llvmy_mondo_relaxed.owl choroidal dystrophy, central areolar, 1|choroidal dystrophy|CACD|areolar atrophy of the macula|choroidal dystrophy central areolar|CACD1|central areolar choroidal sclerosis OMIMPS:215500|GARD:0010049|ICD10:H31.2|SCTID:312918002|SCTID:231996009|Orphanet:75377|ICD9:363.54 owl:Class MONDO:0043370 biolink:NamedThing secondary adrenal insufficiency A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl central adrenal insufficiency|central Hypoadrenalism|hypocortisolism secondary to another disorder|secondary adrenocortical insufficiency|secondary adrenal insufficiency|secondary hypocortisolism NCIT:C62602|GARD:0012735|SCTID:16685009|UMLS:C0948387|UMLS:C0271738 owl:Class HGNC:29502 biolink:NamedThing PJVK tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15574 biolink:NamedThing RB1CC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009612 biolink:NamedThing response to mechanical stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. tmpak2llvmy_mondo_relaxed.owl chemi-mechanical coupling|mechanical stimulus response owl:Class ENVO:01001040 biolink:NamedThing saline environment An environment which is determined by materials which bear significant concentrations of salts. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000314 biolink:NamedThing high osmolarity environment A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006476 biolink:NamedThing undifferentiated gallbladder carcinoma A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. tmpak2llvmy_mondo_relaxed.owl undifferentiated carcinoma of the gallbladder|gallbladder undifferentiated carcinoma|undifferentiated carcinoma of gallbladder|undifferentiated gallbladder cancer|anaplastic carcinoma of the gallbladder|anaplastic gallbladder carcinoma|anaplastic carcinoma of gallbladder|undifferentiated gallbladder carcinoma|gall bladder undifferentiated carcinoma NCIT:C9167|EFO:1000604|UMLS:C0279653 owl:Class MONDO:0005617 biolink:NamedThing undifferentiated carcinoma A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. tmpak2llvmy_mondo_relaxed.owl undifferentiated carcinoma|anaplastic carcinoma|carcinoma, undifferentiated, malignant|carcinoma, undifferentiated ICDO:8020/3|NCIT:C3692|EFO:0006772|UMLS:C0205698|ICDO:8021/3 owl:Class MONDO:0002396 biolink:NamedThing nephrogenic adenofibroma A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. tmpak2llvmy_mondo_relaxed.owl metanephric adenofibroma UMLS:C1266141|NCIT:C39812|ICDO:8965/0|DOID:2698 owl:Class MONDO:0021045 biolink:NamedThing fibroepithelial neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. tmpak2llvmy_mondo_relaxed.owl fibroepithelial tumor|fibroepithelial neoplasm NCIT:C3743|MESH:D018225|UMLS:C0206649|EFO:0007271 owl:Class MONDO:0011345 biolink:NamedThing facial dysmorphism, selective tooth agenesis, and choroid calcification tmpak2llvmy_mondo_relaxed.owl facial dysmorphism, selective tooth agenesis, and choroid calcification OMIM:603589|MESH:C567039|UMLS:C1970343 owl:Class NCBITaxon:1262365 biolink:NamedThing Tabanoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008772 biolink:NamedThing proximal epiphysis of tibia A proximal epiphysis that is part of a tibia. tmpak2llvmy_mondo_relaxed.owl proximal end of tibia|proximal tibial epiphysis|upper end of tibia|head of tibia owl:Class HGNC:6267 biolink:NamedThing KCNJ6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002590 biolink:NamedThing combined thymoma tmpak2llvmy_mondo_relaxed.owl DOID:3281 owl:Class MONDO:0003128 biolink:NamedThing classic pulmonary blastoma A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. tmpak2llvmy_mondo_relaxed.owl biphasic pulmonary blastoma|classic pulmonary blastoma DOID:4767|UMLS:C1332556|NCIT:C36054 owl:Class MONDO:0005933 biolink:NamedThing pulmonary blastoma A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. tmpak2llvmy_mondo_relaxed.owl blastoma of the lung|blastoma of lung|pulmonary blastoma|Pneumoblastoma|lung blastoma ICDO:8972/3|DOID:4765|ICD10:C34.2|EFO:0007458|ICD10:C34.8|SCTID:189815007|ICD9:162.9|Orphanet:64741|MESH:D018202|UMLS:C0206629|NCIT:C3732|ICD10:C34.9|ICD10:C34.3|ICD10:C34.1 owl:Class MONDO:0001584 biolink:NamedThing ocular motility disease tmpak2llvmy_mondo_relaxed.owl disorder of eye movements|eye movement disorder EFO:1001990|GARD:0007237|ICD9:378.9|SCTID:45030009|DOID:1279 owl:Class GO:0002796 biolink:NamedThing positive regulation of antimicrobial peptide secretion Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. tmpak2llvmy_mondo_relaxed.owl activation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up regulation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion owl:Class GO:0002794 biolink:NamedThing regulation of antimicrobial peptide secretion Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001184 biolink:NamedThing chronic rapidly progressive glomerulonephritis Chronic form of rapidly progressive glomerulonephritis. tmpak2llvmy_mondo_relaxed.owl chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic ICD9:582.4|DOID:11036|SCTID:197614002|UMLS:C0341694 owl:Class MONDO:0005300 biolink:NamedThing chronic kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. tmpak2llvmy_mondo_relaxed.owl chronic renal disease|chronic renal insufficiency|CKD - chronic kidney disease|chronic kidney disease|kidney disease, chronic|chronic renal failure syndrome|CKD|renal failure - chronic MESH:D007676|NCIT:C80078|UMLS:C0022661|ICD10:N18.9|ICD9:585.6|DOID:784|EFO:0003884|SCTID:709044004|ICD9:585 owl:Class MONDO:0018581 biolink:NamedThing progressive encephalomyelitis with rigidity and myoclonus tmpak2llvmy_mondo_relaxed.owl perm Orphanet:438266|UMLS:C1861457|GARD:0013110|ICD10:G04.8 https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus owl:Class MONDO:0018351 biolink:NamedThing adenocarcinoma of penis A adenocarcinoma that involves the penis. tmpak2llvmy_mondo_relaxed.owl penis adenocarcinoma|penile adenocarcinoma|adenocarcinoma of the penis ICD10:C60.9|ICD10:C60.1|ICD10:C60.2|ICD10:C60.8|Orphanet:398053|ICD10:C60.0 Editor note: consider merging with Paget disease of penis owl:Class MONDO:0017045 biolink:NamedThing neuroectodermal-endocrine syndrome Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. tmpak2llvmy_mondo_relaxed.owl neuroectodermal endocrine syndrome|Oerter-Friedman-Anderson syndrome UMLS:CN202391|ICD10:E31.8|GARD:0003959|SCTID:724090001|Orphanet:2676 https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome owl:Class MONDO:0004305 biolink:NamedThing parathyroid oncocytic adenoma A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. tmpak2llvmy_mondo_relaxed.owl parathyroid oncocytic adenoma|parathyroid gland oncocytic adenoma NCIT:C27393|UMLS:C1335351|DOID:7611 owl:Class MONDO:0003424 biolink:NamedThing oncocytic adenoma A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. tmpak2llvmy_mondo_relaxed.owl follicular adenoma, oxyphilic cell|oxyphilic adenoma|oncocytic adenoma|oncocytoma DOID:5389|ICDO:8290/0|NCIT:C3759|UMLS:C1510502|EFO:1001079 owl:Class MONDO:0009192 biolink:NamedThing Wolcott-Rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia multiple with early-onset diabetes mellitus|MED-IDDM syndrome|Wolcott Rallison syndrome|IDDM-MED syndrome|WRS|Iddm-Med syndrome|early-onset diabetes mellitus with multiple epiphyseal dysplasia|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Wolcott-Rallison syndrome|Med-Iddm syndrome NCIT:C131007|OMIM:226980|DOID:0090060|ICD10:E13|MESH:C536739|SCTID:254066006|Orphanet:1667|GARD:0005589|UMLS:C0432217 https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus owl:Class NCBITaxon:6282 biolink:NamedThing Onchocerca volvulus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6281 biolink:NamedThing Onchocerca tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008001 biolink:NamedThing irregular bone The irregular bones are bones which, from their peculiar form, cannot be grouped as long bone, short bone, flat bone or sesamoid bone. Irregular bones serve various purposes in the body, such as protection of nervous tissue, affording multiple anchor points for skeletal muscle attachment (as with the sacrum), and maintaining pharynx and trachea support, and tongue attachment (such as the hyoid bone). They consist of cancellous tissue enclosed within a thin layer of compact bone. The irregular bones are: the vertebrC&, sacrum, coccyx, temporal, sphenoid, ethmoid, zygomatic, maxilla, mandible, palatine, inferior nasal concha, and hyoid. tmpak2llvmy_mondo_relaxed.owl os irregulare owl:Class NCBITaxon:103829 biolink:NamedThing Thelazioidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2072716 biolink:NamedThing Spiruromorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0009042 biolink:NamedThing enteroendocrine cell of colon An enteroendocrine cell that is located in the colon. tmpak2llvmy_mondo_relaxed.owl colon enteroendocrine cell owl:Class HGNC:14432 biolink:NamedThing TMEM237 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0026721 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 30 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30|MC1DN30 OMIM:301021 owl:Class MONDO:0000708 biolink:NamedThing Crohn jejunoileitis tmpak2llvmy_mondo_relaxed.owl jejunoileitis DOID:0060188|ICD10:K50.0 owl:Class UBERON:0009506 biolink:NamedThing mesenchyme of middle ear Mesenchyme that is part of a developing middle ear. tmpak2llvmy_mondo_relaxed.owl otic mesenchyme|middle ear associated mesenchyme owl:Class HP:0011220 biolink:NamedThing Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. tmpak2llvmy_mondo_relaxed.owl Pronounced forehead|Prominence of frontal region|Protruding forehead|Bulging forehead|Prominent forehead UMLS:C1867446|UMLS:C1837260 Not to be confused with frontal bossing. peter 2011-12-07T09:49:36Z HP:0200061 human_phenotype owl:Class HP:0000290 biolink:NamedThing Abnormality of the forehead An anomaly of the forehead. tmpak2llvmy_mondo_relaxed.owl Abnormality of the forehead|Malformation of the forehead|Deformity of the forehead|Abnormality of the frontal region of the face|Anomaly of the forehead UMLS:C4025867 human_phenotype owl:Class GO:0034754 biolink:NamedThing cellular hormone metabolic process The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018655 biolink:NamedThing hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|Orphanet:447893|UMLS:CN237713 owl:Class GO:0032276 biolink:NamedThing regulation of gonadotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. tmpak2llvmy_mondo_relaxed.owl regulation of gonadotrophin secretion owl:Class MONDO:0002401 biolink:NamedThing malignant tenosynovial giant cell tumor An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. tmpak2llvmy_mondo_relaxed.owl malignant tenosynovial giant cell tumor|malignant tendon sheath giant cell neoplasm|malignant giant cell tumor of the tendon sheath|malignant giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor, malignant|malignant giant cell neoplasm of the tendon sheath|malignant tendon sheath giant cell tumor|malignant giant cell tumor of tendon sheath|giant cell tumour of tendon sheath, malignant NCIT:C6535|ICDO:9252/3|DOID:2704|UMLS:C1266168 owl:Class MONDO:0012796 biolink:NamedThing retinitis pigmentosa 41 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene. tmpak2llvmy_mondo_relaxed.owl PROM1 retinitis pigmentosa|RP41|retinitis pigmentosa 41|retinitis pigmentosa type 41|retinitis pigmentosa caused by mutation in PROM1|retinal Degeneration, autosomal recessive, prominin-related|RP 41 ICD10:H35.5|MESH:C567422|GARD:0010379|UMLS:C2677516|OMIM:612095|DOID:0110376 https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41 owl:Class MONDO:0008484 biolink:NamedThing stapes ankylosis with broad thumbs and toes Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. tmpak2llvmy_mondo_relaxed.owl Teunissen-Cremers syndrome|stapes ankylosis with BROAD thumb and toes|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis syndrome without symphalangism OMIM:184460|Orphanet:140917|ICD10:Q87.8|SCTID:719305006|UMLS:C1866656 owl:Class MONDO:0013101 biolink:NamedThing basal cell carcinoma, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 2|BCC2 UMLS:C2751606|OMIM:613058 owl:Class MONDO:0005706 biolink:NamedThing coccidioidomycosis A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. tmpak2llvmy_mondo_relaxed.owl Coccidioides infection|Coccidioides immitis disease or disorder|California disease|Coccidioides immitis infectious disease|desert rheumatism|Coccidioides immitis caused disease or disorder|San Joaquin valley fever|desert fever|primary extrapulmonary coccidioidomycosis|Valley fever ICD10:B38.0|UMLS:C0700644|MESH:D003047|Orphanet:228123|ICD10:B38.3|UMLS:CN201384|SCTID:23247008|DOID:13450|UMLS:C0009186|ICD10:B38.8|ICD10:B38.9|ICD10:B38.7|NCIT:C84642|GARD:0009525|ICD9:114.9|ICD10:B38.4|ICD9:114.1|MedDRA:10009825|ICD10:B38.2|ICD9:114|EFO:0007211|ICD10:B38.1|ICD10:B38 owl:Class MONDO:0004894 biolink:NamedThing cyclotropia tmpak2llvmy_mondo_relaxed.owl UMLS:C0152209|DOID:9838|ICD10:H50.41|SCTID:70486007|ICD9:378.33 owl:Class MONDO:0010224 biolink:NamedThing corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. tmpak2llvmy_mondo_relaxed.owl New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud-Levine-Carpenter syndrome|ACC with abnormal genitalia|Proud syndrome|Proud Levine Carpenter syndrome|ACC-abnormal genitalia syndrome|corpus callosum, agenesis of, with abnormal genitalia Orphanet:2508|ICD10:Q87.8|UMLS:C0796124|OMIM:300004|MESH:C563110|GARD:0004528|SCTID:763797003 owl:Class MONDO:0002131 biolink:NamedThing jaw cancer A malignant neoplasm involving the jaw skeleton tmpak2llvmy_mondo_relaxed.owl jaw neoplasm|malignant neoplasm of jaw skeleton|malignant jaw skeleton neoplasm|jaw skeleton cancer|cancer of jaw skeleton|neoplasm of jaw DOID:1862|EFO:0007333|MESH:D007573 owl:Class MONDO:0002365 biolink:NamedThing kidney hemangiopericytoma A hemangiopericytoma arising from the kidney. tmpak2llvmy_mondo_relaxed.owl hemangiopericytoma of kidney|hemangiopericytoma of the kidney|kidney hemangiopericytoma|kidney spindle cell tumor|renal hemangiopericytoma DOID:262|UMLS:C0346256|NCIT:C4527|SCTID:254923001 owl:Class GO:0051961 biolink:NamedThing negative regulation of nervous system development Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpak2llvmy_mondo_relaxed.owl downregulation of nervous system development|down regulation of nervous system development|inhibition of nervous system development|down-regulation of nervous system development owl:Class CHEBI:38560 biolink:NamedThing simple protein tmpak2llvmy_mondo_relaxed.owl simple proteins owl:Class MONDO:0024265 biolink:NamedThing Duane syndrome type 1 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. tmpak2llvmy_mondo_relaxed.owl retraction syndrome|Duane syndrome|Drs|Duane anomaly|DURS1|Duane retraction syndrome 1 GARD:0010763|OMIM:126800|SCTID:128082002 https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1 owl:Class MONDO:0007473 biolink:NamedThing Duane retraction syndrome Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. tmpak2llvmy_mondo_relaxed.owl DRS|Duane's syndrome|Duane syndrome|retraction syndrome|Duane retraction syndrome|Stilling-Turk-Duane syndrome|Duane anomaly|DURS MESH:D004370|DOID:12557|SCTID:60318001|UMLS:C0013261|ICD9:378.71|GARD:0006288|NCIT:C84678|MedDRA:10013799|OMIMPS:126800|ICD10:H50.81|ICD10:H50.8|Orphanet:233 https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome owl:Class HP:0008905 biolink:NamedThing Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). tmpak2llvmy_mondo_relaxed.owl Rhizomelic short limbs|Rhizomelic short stature|Rhizomelic dwarfism|Short stature, rhizomelic|Rhizomelic limb shortening|Symmetrical rhizomelic limb shortening|Disproportionately short upper portion of limb|Rhizomelic shortening UMLS:C1866730 HP:0008877|HP:0003520|HP:0008852|HP:0002968 human_phenotype owl:Class MONDO:0060592 biolink:NamedThing Sweeney-Cox syndrome tmpak2llvmy_mondo_relaxed.owl Sweeney-Cox syndrome|SWCOS OMIM:617746|UMLS:C4540299|DOID:0080538 owl:Class MONDO:0006089 biolink:NamedThing appendix goblet cell carcinoid An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine. tmpak2llvmy_mondo_relaxed.owl mucinous carcinoid tumor|goblet cell carcinoid of the appendix|goblet cell carcinoid of appendix|goblet cell carcinoid tumor|appendix mixed carcinoid-adenocarcinoma|appendix adenocarcinoid tumor|appendix goblet cell carcinoid tumor ONCOTREE:GCCAP|EFO:1000090|NCIT:C3689|ICDO:8243/3 owl:Class HGNC:5996 biolink:NamedThing IL1RAPL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010216 biolink:NamedThing xeroderma pigmentosum group G Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. tmpak2llvmy_mondo_relaxed.owl XP-G|xeroderma pigmentosum, complementation group G|xeroderma pigmentosum caused by mutation in ERCC5|xeroderma pigmentosum group type G|XP, Group G|XP7|XPG|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum 7|ERCC5 xeroderma pigmentosum|XP group G|xeroderma pigmentosum complementation group G|xeroderma pigmentosum VII|xeroderma pigmentosum, complementation group type G|xeroderma pigmentosum group G|xeroderma pigmentosum type 7 UMLS:C0268141|Orphanet:276267|DOID:0110849|GARD:0005629|NCIT:C3969|SCTID:36454001|MESH:C562593|OMIM:278780|ICD10:Q82.1 placement based on OMIM phenotypic series 214150. owl:Class NCBITaxon:513045 biolink:NamedThing Dioctophyme renale tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:513042 biolink:NamedThing Dioctophyme tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045765 biolink:NamedThing regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000561 biolink:NamedThing amacrine cell Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons. tmpak2llvmy_mondo_relaxed.owl amacrine neuron BTO:0004044|FBbt:00005127|FMA:67766 Not clear if this term overlaps with retinal bipolar neuron (CL:0000748). cell owl:Class HGNC:11190 biolink:NamedThing SOX10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005995 biolink:NamedThing trichostrongylosis Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. tmpak2llvmy_mondo_relaxed.owl Trichostrongyliasis|Trichostrongylus infectious disease|infection by Trichostrongylus|Trichostrongylus caused disease or disorder|infection by Trichostrongylus species|Trichostrongylus disease or disorder DOID:1254|ICD10:B81.2|MESH:D014253|UMLS:C0040948|SCTID:33710003|EFO:0007523|ICD9:127.6 owl:Class CHEBI:25195 biolink:NamedThing mercury atom tmpak2llvmy_mondo_relaxed.owl Hg|mercure|mercury|liquid silver|azogue|mercurio|80Hg|Quecksilber|hydrargyrum|quicksilver owl:Class UBERON:0013778 biolink:NamedThing skin of sole of pes A zone of skin that is part of a skin of pes. tmpak2llvmy_mondo_relaxed.owl plantar skin of foot|skin of sole of foot|skin of plantar part of foot owl:Class UBERON:0013776 biolink:NamedThing skin of palmar/plantar part of autopod A zone of skin that is part of a palmar/plantar part of autopod. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004151 biolink:NamedThing spinal meninges cancer A malignant neoplasm involving the meninx of spinal cord. tmpak2llvmy_mondo_relaxed.owl cancer of meninx of spinal cord|malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|meninx of spinal cord cancer|malignant neoplasm of spinal meninges ICD10:C70.1|ICD9:192.3|DOID:7224|SCTID:363476006|UMLS:C0153647 owl:Class MONDO:0030994 biolink:NamedThing neurodevelopmental disorder with or without autism or seizures tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with or without autism or seizures|NEDAUS OMIM:619239 owl:Class MONDO:0016100 biolink:NamedThing rippling muscle disease with myasthenia gravis tmpak2llvmy_mondo_relaxed.owl Rmd-MG|immune-mediated rippling muscle disease|acquired rippling muscle disease UMLS:CN200870|ICD10:G70.8|Orphanet:206575 owl:Class MONDO:0021142 biolink:NamedThing acquired rippling muscle disease The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. tmpak2llvmy_mondo_relaxed.owl acquired rippling muscle disease|sporadic rippling muscle disease owl:Class MONDO:0002282 biolink:NamedThing West Nile fever A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) tmpak2llvmy_mondo_relaxed.owl West Nile virus disease or disorder|West Nile virus caused disease or disorder|West Nile virus infectious disease ICD10:A92.30|MESH:D014901|ICD10:A92.3|SCTID:417093003|ICD9:066.40|DOID:2366|ICD9:066.4 owl:Class MONDO:0007872 biolink:NamedThing LADD syndrome Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. tmpak2llvmy_mondo_relaxed.owl LADD|levy-Hollister syndrome|levy Hollister syndrome|Lacrimoauriculodento-digital syndrome|LADD syndrome|Lacrimoauriculoradiodental syndrome|Lacrimo-auriculo-dento-digital syndrome|lacrimoauriculodentodigital syndrome|lard syndrome|LACRIMOAURICULODENTODIGITAL syndrome OMIM:149730|ICD10:Q87.8|SCTID:23817003|Orphanet:2363|MESH:C538132|GARD:0006848|UMLS:C0265269|DOID:0050331|ICD9:759.89 owl:Class MONDO:0032943 biolink:NamedThing neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies tmpak2llvmy_mondo_relaxed.owl NEDMACE|NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES OMIM:618829 owl:Class HGNC:18802 biolink:NamedThing ATPAF2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:4734 biolink:NamedThing commelinids tmpak2llvmy_mondo_relaxed.owl Commelinidae|Commeliniflorae PMID:26350789|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1437197 biolink:NamedThing Petrosaviidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:26350789 ncbi_taxonomy owl:Class MONDO:0024300 biolink:NamedThing hypophosphatemic rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. tmpak2llvmy_mondo_relaxed.owl hypophosphatemia, vitamin D-resistant rickets|Phosphopenic rickets|hypophosphatemic Ricket|vitamin D-resistant rickets|rickets, vitamin D-resistant|hypophosphatemic vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|acquired vitamin D resistant rickets|rickets, vitamin D resistant|hypophosphatemic rickets|acquired vitamin D-resistant rickets|Ricket, hypophosphatemic MESH:D063730|NCIT:C131449 owl:Class NCBITaxon:8045 biolink:NamedThing Gadidae tmpak2llvmy_mondo_relaxed.owl Ranicipitidae|tadpole cod|cods GC_ID:1 NCBITaxon:185742 ncbi_taxonomy owl:Class NCBITaxon:1489845 biolink:NamedThing Gadoidei tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018659 biolink:NamedThing partial duplication of the short arm of chromosome 19 tmpak2llvmy_mondo_relaxed.owl partial trisomy of the short arm of chromosome 19|partial trisomy of chromosome 19p|partial duplication of chromosome 19p|partial duplication of the short arm of chromosome type 19 Orphanet:447985 owl:Class MONDO:0008511 biolink:NamedThing proximal symphalangism Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. tmpak2llvmy_mondo_relaxed.owl symphalangism, Cushing type|hereditary absence of the proximal interphalangeal joints|Strasburger-Hawkins-Eldridge syndrome|Cushing's symphalangism|proximal symphalangism|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|proximal symphalangism (disease)|vessel’s syndrome|hereditary absence of proximal interphalangeal joints proximal symphalangism (disease) DOID:0050788|UMLS:C1861385|GARD:0008182|OMIMPS:185800|KEGG:H00484|HP:0100264|MESH:C536223|Orphanet:3250|ICD10:Q70.9 owl:Class MONDO:0018112 biolink:NamedThing isolated scaphocephaly Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. tmpak2llvmy_mondo_relaxed.owl non-syndromic sagittal synostosis|isolated dolichocephaly Orphanet:35093|ICD10:Q75.0 owl:Class MONDO:0006303 biolink:NamedThing middle ear squamous cell carcinoma A rare squamous cell carcinoma that arises from the middle ear. tmpak2llvmy_mondo_relaxed.owl middle ear squamous cell carcinoma|middle Ear epidermoid carcinoma|epidermoid carcinoma of the middle ear|squamous cell carcinoma of the middle Ear|epidermoid carcinoma of middle Ear|epidermoid carcinoma of the middle Ear|squamous cell carcinoma of middle ear|squamous cell carcinoma of middle Ear NCIT:C6086|UMLS:C1334762|DOID:5526|EFO:1000378 owl:Class MONDO:0010026 biolink:NamedThing SHORT syndrome SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. tmpak2llvmy_mondo_relaxed.owl short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|lipodystrophy-Rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|lipodystrophy, partial, with Rieger anomaly and short stature|Aarskog-Ose-Pande syndrome|Rieger anomaly-partial lipodystrophy syndrome|short syndrome|SHORT syndrome|partial lipodystrophy with Rieger anomaly and short stature DOID:0111454|Orphanet:3163|UMLS:C0878684|ICD10:Q87.1|GARD:0007633|OMIM:269880|MESH:C537327 owl:Class MONDO:0010072 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive Autosomal recessive form of spondyloepiphyseal dysplasia tarda. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive|autosomal recessive spondyloepiphyseal dysplasia tarda OMIM:271600|MESH:C564797|UMLS:C1849054 owl:Class MONDO:0005767 biolink:NamedThing gas gangrene A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. tmpak2llvmy_mondo_relaxed.owl myonecrosis|gas gangrene|gas bacillus infection ICD9:040.0|UMLS:C0017105|MESH:D005738|SCTID:80466000|DOID:9159|EFO:0007279|ICD10:A48.0 owl:Class GO:0005243 biolink:NamedThing gap junction channel activity A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. tmpak2llvmy_mondo_relaxed.owl innexin channel activity|intercellular channel|connexin|innexin owl:Class CL:1000979 biolink:NamedThing ureter smooth muscle cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001118 cell owl:Class HsapDv:0000129 biolink:NamedThing 35-year-old human stage Adult stage that refers to an adult who is over 35 and under 36. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002576 biolink:NamedThing perineural cell A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-02T03:03:58Z cell owl:Class MONDO:0017844 biolink:NamedThing Sezary syndrome Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). tmpak2llvmy_mondo_relaxed.owl Sezary lymphoma|CTCL / Sezary syndrome|Sezary's disease|Sézary lymphoma|SS|Sezary syndrome|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|SC)zary syndrome|Sezary disease|Sezary's lymphoma ICD10:C84.10|MedDRA:10040493|ICDO:9701/3|EFO:1000785|NCIT:C3366|UMLS:C0036920|SCTID:118611004|DOID:8541|GARD:0007629|ICD9:202.2|MESH:D012751|ICD10:C84.1|ONCOTREE:SS|MedDRA:10040500|Orphanet:3162 owl:Class MONDO:0015817 biolink:NamedThing aggressive primary cutaneous T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl Orphanet:178551 owl:Class MONDO:0010966 biolink:NamedThing achondrogenesis type IB Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. tmpak2llvmy_mondo_relaxed.owl achondrogenesis, type IB|ACG1B|achondrogenesis Fraccaro type|achondrogenesis, type 1B|achondrogenesis type IB|achondrogenesis type 1B|achondrogenesis, Parenti-Fraccaro type|achondrogenesis, Fraccaro type|Fraccaro achondrogenesis GARD:0000460|ICD10:Q77.0|DOID:0080055|Orphanet:93298|OMIM:600972 owl:Class MONDO:0005013 biolink:NamedThing dedifferentiated chondrosarcoma An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. tmpak2llvmy_mondo_relaxed.owl Dedifferentiated chondrosarcoma|DDCHS ICDO:9243/3|ONCOTREE:DDCHS|NCIT:C6476|EFO:0000394|UMLS:C0862878 owl:Class GO:0008610 biolink:NamedThing lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpak2llvmy_mondo_relaxed.owl lipogenesis|lipid formation|lipid anabolism|lipid biosynthesis|lipid synthesis owl:Class NCBITaxon:75739 biolink:NamedThing Eucoccidiorida tmpak2llvmy_mondo_relaxed.owl Eucoccidiida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010092 biolink:NamedThing Filippi syndrome Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl FILIPPI syndrome|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|Scott craniodigital syndrome with mental retardation|Scott craniodigital syndrome with intellectual disability|syndactyly type I with microcephaly and intellectual disability|syndactyly, type I, with microcephaly and mental retardation|FLPIS|Filippi syndrome|type 1 syndactyly-microcephaly-intellectual disability syndrome|syndactyly type I with microcephaly and mental retardation|syndactyly, type I, with microcephaly and intellectual disability|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly Orphanet:3255|GARD:0000062|MESH:C538152|ICD10:Q87.8|OMIM:272440|SCTID:720954000|UMLS:C0795940 owl:Class UBERON:8410004 biolink:NamedThing small intestine arteriole Arteriole of villus of small intestine. tmpak2llvmy_mondo_relaxed.owl arteriole of villus of small intestine|arteriole of small intestine|small intestine villus arteriole owl:Class MONDO:0033007 biolink:NamedThing Galloway-Mowat syndrome 3 tmpak2llvmy_mondo_relaxed.owl GAMOS3|Galloway-Mowat syndrome 3 UMLS:CN570505|DOID:0080245|OMIM:617729 owl:Class MONDO:0013551 biolink:NamedThing hereditary spastic paraplegia 47 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. tmpak2llvmy_mondo_relaxed.owl CPSQ5|SPG47|hereditary spastic paraplegia 47|autosomal recessive spastic paraplegia 47|hereditary spastic paraplegia type 47|cerebral palsy, spastic quadriplegic, 5|spastic quadriplegic cerebral palsy 5|hereditary spastic paraplegia caused by mutation in AP4B1|spastic paraplegia 47, autosomal recessive|cerebral palsy, spastic quadriplegic, 5, formerly|AP4B1 hereditary spastic paraplegia OMIM:614066|NCIT:C164224|DOID:0110799|UMLS:C3279738 owl:Class MONDO:0014916 biolink:NamedThing developmental and epileptic encephalopathy, 41 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. tmpak2llvmy_mondo_relaxed.owl SLC1A2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 41|EIEE41|early infantile epileptic encephalopathy caused by mutation in SLC1A2|developmental and epileptic encephalopathy, 41|epileptic encephalopathy, early infantile, 41|epileptic encephalopathy, early infantile, 41; EIEE41|DEE41 DOID:0080442|UMLS:C4310717|OMIM:617105 owl:Class MONDO:0006166 biolink:NamedThing columnar cell hyperplasia of the breast A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini. tmpak2llvmy_mondo_relaxed.owl columnar cell hyperplasia of breast|CCH NCIT:C54183|UMLS:C1707446|EFO:1000199 owl:Class HP:0030972 biolink:NamedThing Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. tmpak2llvmy_mondo_relaxed.owl Abnormal systemic BP 2017-04-18 13:55:40+00:00 robinp human_phenotype owl:Class MONDO:0001993 biolink:NamedThing seminal vesicle adenocarcinoma A carcinoma that arises from glandular epithelial cells of the seminal vesicle tmpak2llvmy_mondo_relaxed.owl seminal vesicle adenocarcinoma DOID:14545|UMLS:C1519233|NCIT:C39906 owl:Class MONDO:0000144 biolink:NamedThing pregnancy loss, recurrent, susceptibility tmpak2llvmy_mondo_relaxed.owl See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759. owl:Class NCBITaxon:716545 biolink:NamedThing saccharomyceta tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032733 biolink:NamedThing global developmental delay, progressive ataxia, and elevated glutamine tmpak2llvmy_mondo_relaxed.owl GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE|GDPAG|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia OMIM:618412 owl:Class GO:0007566 biolink:NamedThing embryo implantation Attachment of the blastocyst to the uterine lining. tmpak2llvmy_mondo_relaxed.owl blastocyst implantation owl:Class GO:1903038 biolink:NamedThing negative regulation of leukocyte cell-cell adhesion Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. tmpak2llvmy_mondo_relaxed.owl inhibition of leukocyte adhesion|inhibition of leukocyte cell adhesion|down-regulation of leukocyte cell-cell adhesion|negative regulation of leukocyte cell adhesion|inhibition of leukocyte cell-cell adhesion|downregulation of leukocyte cell adhesion|down regulation of leukocyte cell adhesion|down-regulation of leukocyte adhesion|down regulation of leukocyte adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|down-regulation of leukocyte cell adhesion|negative regulation of leukocyte adhesion|downregulation of leukocyte cell-cell adhesion owl:Class MONDO:0060781 biolink:NamedThing Preeyasombat-Varavithya syndrome tmpak2llvmy_mondo_relaxed.owl Fanconi syndrome caused by degraded tetracycline MESH:C535269|UMLS:C2930859 owl:Class MONDO:0060779 biolink:NamedThing acquired Fanconi syndrome Fanconi Syndrome caused by exposure to noxious agents. tmpak2llvmy_mondo_relaxed.owl acquired Fanconi syndrome NCIT:C78296|SCTID:236467001|UMLS:C0341702 owl:Class NCBITaxon:11216 biolink:NamedThing Human respirovirus 3 tmpak2llvmy_mondo_relaxed.owl HPIV-3|Human parainfluenza 3 virus|human parainfluenza virus 3 HPIV3|parainfluenza virus type 3 PIV-3|Parainfluenza virus type 3|human parainfluenza virus|Human parainfluenza virus 3|human parainfluenza virus type 3 PIV3|Human parainfluenza virus type 3|HPIV3 GC_ID:1 NCBITaxon:11202 ncbi_taxonomy owl:Class MONDO:0004948 biolink:NamedThing B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. tmpak2llvmy_mondo_relaxed.owl leukemia, chronic lymphatic|B-cell lymphocytic leukemia|B cell CLL|B-cell CLL|B-cell chronic lymphocytic leukemia|chronic lymphocytic leukemia|small lymphocytic lymphoma|CLL|chronic B-cell lymphocytic leukemia|B cell chronic lymphocytic leukemia|chronic lymphatic leukemia|leukemia, chronic LYMPHOCYTIC|chronic lymphocytic leukemia (CLL)|B-cell chronic lymphoid leukemia|B cell lymphocytic leukemia|hematopoeitic - chronic lymphocytic leukemia (CLL)|chronic lymphogenous leukemia|B-cell chronic lymphogenous leukemia|lymphoplasmacytic leukemia|leukemia, lymphocytic, chronic|BCLL|B-CLL OMIM:151400|Orphanet:67038|NCIT:C3163|EFO:0000095|MESH:D015451|ICD10:C91.1|ICD10:C91.10|MedDRA:10008958|GARD:0006104|UMLS:C0023434|ICD9:204.1|UMLS:C0855095|DOID:1040 owl:Class HGNC:3647 biolink:NamedThing FECH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29796 biolink:NamedThing LAMTOR2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000242 biolink:NamedThing Merkel cell A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. tmpak2llvmy_mondo_relaxed.owl Merkel's cell FMA:70548 cell owl:Class GO:0070563 biolink:NamedThing negative regulation of vitamin D receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity. tmpak2llvmy_mondo_relaxed.owl negative regulation of VDR signalling pathway|down regulation of vitamin D receptor signaling pathway|negative regulation of VDR signaling pathway|downregulation of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|inhibition of vitamin D receptor signaling pathway|negative regulation vitamin D receptor signalling pathway owl:Class MONDO:0007827 biolink:NamedThing inclusion body myositis Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. tmpak2llvmy_mondo_relaxed.owl IBM-3|IBM|distal myopathy with rimmed vacuoles|inclusion body myopathy 3|inclusion body myositis|Nonaka myopathy|distal myopathy with rimmed vacuoles (DMRV)|IBM2|HIBM|Ibm|sporadic inclusion body myositis|sIBM|inflammatory myopathy|inclusion body myopathy 2|hereditary inclusion body myopathy ICD10:M60.8|Orphanet:611|SCTID:72315009|DOID:3429|UMLS:C0238190|MESH:D018979|ICD10:G72.41|MedDRA:10066407|ICD9:359.71|GARD:0003896|NCIT:C84786|OMIM:147421|EFO:0007323|ICD9:729.1 owl:Class MONDO:0016846 biolink:NamedThing distal 22q11.2 microduplication syndrome Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. tmpak2llvmy_mondo_relaxed.owl distal dup(22)(q11.2)|distal trisomy 22q11.2 Orphanet:261337|ICD10:Q92.3|UMLS:CN202187|SCTID:764524005 owl:Class MONDO:0012020 biolink:NamedThing chromosome 22q11.2 microduplication syndrome The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. tmpak2llvmy_mondo_relaxed.owl Duplication 22q11.2|22q11.2 microduplication syndrome|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)|22q11.2 duplication|chromosome 22q11.2 DUPLICATION syndrome|22q11.2 duplication syndrome|duplication 22q11.2|chromosome 22q11.2 duplication syndrome GARD:0010557|OMIM:608363|DOID:0060436|SCTID:699311001|UMLS:C2675369|ICD10:Q92.3|MESH:C567224|Orphanet:1727|ICD9:758.5 https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome owl:Class MONDO:0012036 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl SLEB4|systemic lupus erythematosus, susceptibility to, 4 OMIM:608437 owl:Class MONDO:0003988 biolink:NamedThing sternum lymphoma A rare lymphoma that arises from the bone or soft tissue of the sternum. tmpak2llvmy_mondo_relaxed.owl lymphoma of the sternum|lymphoma of sternum|sternal lymphoma|sternum lymphoma|primary sternal lymphoma NCIT:C6716|DOID:6762|UMLS:C1336504 owl:Class HP:0006753 biolink:NamedThing Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. tmpak2llvmy_mondo_relaxed.owl Stomach tumor|Stomach tumour|Neoplasia of the stomach UMLS:C0038356|MSH:D013274|UMLS:C4020813|NCIT:C3262|SNOMEDCT_US:126824007 human_phenotype owl:Class MONDO:0032819 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 7 tmpak2llvmy_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7|Thyrotropin-Releasing Hormone Resistance, Generalized|hypothyroidism, congenital, nongoitrous, 7|CHNG7 OMIM:618573 owl:Class MONDO:0008328 biolink:NamedThing glaucoma 1, open angle, P tmpak2llvmy_mondo_relaxed.owl glaucoma 1, open angle, type P|GLC1P|glaucoma 1, open angle, P OMIM:177700|UMLS:C3888338 owl:Class MONDO:0000672 biolink:NamedThing form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. tmpak2llvmy_mondo_relaxed.owl DOID:0060142 owl:Class MONDO:0011028 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|SGCD autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|muscular dystrophy, limb-girdle, type 2F|LGMD2F|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|limb-girdle muscular dystrophy type 2F|delta-sarcoglycanopathy DOID:0110280|OMIM:601287|GARD:0008573|ICD10:G71.0|SCTID:718177001|Orphanet:219|MESH:C535896 https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f owl:Class MONDO:0013752 biolink:NamedThing hypoplastic left heart syndrome 2 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. tmpak2llvmy_mondo_relaxed.owl hypoplastic left heart syndrome caused by mutation in NKX2-5|hypoplastic left heart syndrome 2|HLHS2|hypoplastic left heart syndrome type 2|NKX2-5 hypoplastic left heart syndrome UMLS:C3280795|MedDRA:10021076|ICD10:Q23.4|OMIM:614435 owl:Class GO:0045617 biolink:NamedThing negative regulation of keratinocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of keratinocyte differentiation|down regulation of keratinocyte differentiation|downregulation of keratinocyte differentiation|down-regulation of keratinocyte differentiation owl:Class MONDO:0006912 biolink:NamedThing pneumatosis cystoides intestinalis The presence of gas within the wall of the large or small intestine. tmpak2llvmy_mondo_relaxed.owl EFO:1001113|MedDRA:10049732|SCTID:17465007|UMLS:C0032266|DOID:13249|MESH:D011006|ICD9:569.89 owl:Class MONDO:0003751 biolink:NamedThing childhood germ cell tumor A germ cell tumor that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric germ cell neoplasm|childhood germ cell neoplasm|pediatric germ cell cancer|childhood germ cell tumor|pediatric germ cell tumor|germ cell tumor NCIT:C7928|DOID:6053|UMLS:C0279014 owl:Class HGNC:9217 biolink:NamedThing POU3F4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033560 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 35 tmpak2llvmy_mondo_relaxed.owl MC1DN35|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 OMIM:619003 owl:Class OBO:CHR_9606-chr17 biolink:NamedThing chr17 (Human) tmpak2llvmy_mondo_relaxed.owl 83257441 0 hg38 owl:Class GO:0034654 biolink:NamedThing nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. tmpak2llvmy_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid anabolism owl:Class GO:0018130 biolink:NamedThing heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpak2llvmy_mondo_relaxed.owl heterocycle synthesis|heterocycle formation|heterocycle anabolism|heterocycle biosynthesis owl:Class MONDO:0011999 biolink:NamedThing otosclerosis 3 tmpak2llvmy_mondo_relaxed.owl otosclerosis 3|OTSC3 OMIM:608244|UMLS:C1842353|MESH:C564268 owl:Class MONDO:0001622 biolink:NamedThing mechanical lagophthalmos tmpak2llvmy_mondo_relaxed.owl ICD10:H02.22|UMLS:C0155198|DOID:13037|SCTID:21783006|ICD9:374.22 owl:Class MONDO:0001604 biolink:NamedThing lagophthalmos tmpak2llvmy_mondo_relaxed.owl DOID:12959|ICD10:H02.2|SCTID:60735000|ICD9:374.2|ICD10:H02.20|UMLS:C0152226|ICD9:374.20 owl:Class MONDO:0001781 biolink:NamedThing uterine corpus adenomatoid tumor A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures. tmpak2llvmy_mondo_relaxed.owl uterine corpus adenomatoid tumor|uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor NCIT:C27250|DOID:1371|UMLS:C1336902 owl:Class MONDO:0004230 biolink:NamedThing adenomatoid tumor A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. tmpak2llvmy_mondo_relaxed.owl benign tumor of the mesothelium|benign mesothelioma|adenomatoid tumor (morphologic abnormality)|benign neoplasm of mesothelium|benign neoplasm of the mesothelium|adenomatoid tumor|benign localized epithelial mesothelioma|benign mesothelial tumor|mesothelioma, benign|benign tumor of mesothelium|benign mesothelial neoplasm|adenomatoid tumor, benign|adenomatoid tumor NOS (morphologic abnormality) DOID:746|ICDO:9052/0|ICDO:9050/0|ICD10:D19.9|NCIT:C3762|ICDO:9054/0|UMLS:C0206675|MESH:D018254 owl:Class MONDO:0001667 biolink:NamedThing streptobacillus infectious disease tmpak2llvmy_mondo_relaxed.owl infection caused by streptobacillus|streptobacillus infection SCTID:721738002|UMLS:C0947939 owl:Class MONDO:0003727 biolink:NamedThing animal phobia An overwhelming, irrational, and persistent fear of animals. tmpak2llvmy_mondo_relaxed.owl fear of animals|fear of animals (finding)|zoophobia (finding)|zoophobia DOID:600|EFO:1001876|NCIT:C35273 owl:Class MONDO:0014432 biolink:NamedThing Bardet-Biedl syndrome 2 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome type 2|BBS|Bardet-Biedl syndrome|BBS2 Bardet-Biedl syndrome|Bardet-Biedl syndrome 2|BBS2|Bardet-Biedl syndrome caused by mutation in BBS2 MESH:C537910|GARD:0000821|OMIM:615981|UMLS:C2936863|ICD10:Q87.89|DOID:0110124 owl:Class HGNC:87 biolink:NamedThing ACAD8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013403 biolink:NamedThing heterotaxy, visceral, 4, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. tmpak2llvmy_mondo_relaxed.owl ACVR2B visceral heterotaxy|HTX4|heterotaxy, visceral, 4, autosomal|visceral heterotaxy caused by mutation in ACVR2B OMIM:613751|UMLS:C3151057 owl:Class MONDO:0018842 biolink:NamedThing primary effusion lymphoma Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). tmpak2llvmy_mondo_relaxed.owl body cavity-based lymphoma|primary Effusion Lymphoma|PEL|AIDS-related lymphoma SCTID:713516007|ONCOTREE:PEL|Orphanet:48686|EFO:1000491|GARD:0009247|UMLS:C1292753|NCIT:C6915|ICDO:9678/3|MESH:D054685|ICD9:202.80|ICD10:C83.8|MedDRA:10065857 https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma owl:Class MONDO:0013429 biolink:NamedThing retinitis pigmentosa 40 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa 40|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa|RP40 ICD10:H35.5|OMIM:613801|DOID:0110375|UMLS:C3151107 owl:Class MONDO:0007097 biolink:NamedThing Finnish type amyloidosis tmpak2llvmy_mondo_relaxed.owl familial amyloid polyneuropathy type IV|corneal dystrophy, lattice type 2|hereditary gelsolin amyloidosis|amyloidosis 5|hereditary amyloidosis, Finnish type|familial amyloidosis, Finnish type|amyloidosis, Meretoja type|lattice corneal dystrophy type II Finnish|cerebral amyloid angiopathy, Gsn-related|amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, MERETOJA type|amyloidosis due to mutant gelsolin|amyloidosis V|meretoja syndrome|gelsolin amyloidosis|meretoja type amyloidosis|lattice corneal dystrophy, type 2|AGel amyloidosis|amyloidosis, Finnish type OMIM:105120|ICD9:277.39|SCTID:419398009|GARD:0002339|ICD10:E85.1|MESH:C537459|Orphanet:85448|DOID:0050637 owl:Class MONDO:0002449 biolink:NamedThing nodular degeneration of cornea tmpak2llvmy_mondo_relaxed.owl UMLS:C0155122|ICD10:H18.45|ICD9:371.46|DOID:2879|SCTID:72620002 owl:Class MONDO:0004261 biolink:NamedThing periductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. tmpak2llvmy_mondo_relaxed.owl periductal breast myoepitheliosis DOID:7520|UMLS:C1518974|NCIT:C40388 owl:Class MONDO:0004262 biolink:NamedThing breast myoepitheliosis A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. tmpak2llvmy_mondo_relaxed.owl breast myoepitheliosis UMLS:C1513799|NCIT:C40385|DOID:7521 owl:Class MONDO:0004670 biolink:NamedThing lupus erythematosus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. tmpak2llvmy_mondo_relaxed.owl lupus erythematosus|lupus ICD10:L93.0|SCTID:200936003|NCIT:C27153|ICD10:L93|DOID:8857|ICD9:695.4|UMLS:C0409974 owl:Class MONDO:0009825 biolink:NamedThing 5-oxoprolinase deficiency 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. tmpak2llvmy_mondo_relaxed.owl rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-oxoprolinase deficiency (disease)|OPLAHD|oxoprolinuria due to oxoprolinase deficiency|5-oxoprolinase deficiency|oxoprolinuria due to 5-oxoprolinase deficiency|5-alpha-oxoprolinase deficiency|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder 5-oxoprolinase deficiency (disease) UMLS:C0268525|GARD:0005681|Orphanet:33572|HP:0040142|SCTID:26132002|ICD9:270.8|MESH:C535322|ICD10:E72.8|OMIM:260005 owl:Class MONDO:0019241 biolink:NamedThing inborn disorder of the gamma-glutamyl cycle tmpak2llvmy_mondo_relaxed.owl disorder of gamma-glutamyl cycle|disorder of the gamma-glutamyl cycle Orphanet:79196|UMLS:C0268517|ICD10:E72.8|SCTID:9128006 Editor note: request from GO owl:Class MONDO:0002190 biolink:NamedThing vulvar syringoma A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. tmpak2llvmy_mondo_relaxed.owl syringoma of mammalian vulva|mammalian vulva syringoma|vulvar syringoma UMLS:C1520099|DOID:2064|NCIT:C40311 owl:Class GO:0032414 biolink:NamedThing positive regulation of ion transmembrane transporter activity Any process that activates or increases the activity of an ion transporter. tmpak2llvmy_mondo_relaxed.owl upregulation of ion transporter activity|up regulation of ion transporter activity|up-regulation of ion transporter activity|stimulation of ion transporter activity|activation of ion transporter activity|positive regulation of ion transporter activity owl:Class MONDO:0007141 biolink:NamedThing antiviral state repressor, regulator of tmpak2llvmy_mondo_relaxed.owl antiviral STATE repressor, regulator OF|antiviral state repressor, regulator of|AVRR OMIM:107440 owl:Class HGNC:10648 biolink:NamedThing AIMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009063 biolink:NamedThing ventriculomegaly-cystic kidney disease tmpak2llvmy_mondo_relaxed.owl ventriculomegaly with cystic kidney disease|VMCKD|congenital nephrosis-cerebral ventriculomegaly syndrome DOID:0111625|UMLS:C1857423|Orphanet:443988|OMIM:219730 owl:Class MONDO:0011870 biolink:NamedThing annular epidermolytic ichthyosis Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. tmpak2llvmy_mondo_relaxed.owl epidermolytic ichthyosis, annular|ichthyosis, cyclic, with epidermolytic hyperkeratosis|Ciehk|AEI ICD10:Q80.3|MESH:C564367|OMIM:607602|SCTID:718631006|UMLS:C1843463|Orphanet:281139 owl:Class MONDO:0011510 biolink:NamedThing Bohring-Opitz syndrome Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. tmpak2llvmy_mondo_relaxed.owl BOPS|Opitz trigonocephaly-like syndrome|BOHRING-Opitz syndrome|Bohring-Opitz syndrome|Bos syndrome|Bohring syndrome|Oberklaid-Danks syndrome|C-like syndrome NCIT:C131533|GARD:0010140|Orphanet:97297|UMLS:C0796232|SCTID:720565000|OMIM:605039|ICD10:Q87.8|MESH:C537419 https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome owl:Class GO:0002829 biolink:NamedThing negative regulation of type 2 immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. tmpak2llvmy_mondo_relaxed.owl down-regulation of type 2 immune response|inhibition of type 2 immune response|negative regulation of T-helper 2 type immune response|downregulation of type 2 immune response|negative regulation of Th2 immune response|down regulation of type 2 immune response owl:Class MONDO:0006961 biolink:NamedThing scrapie A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. tmpak2llvmy_mondo_relaxed.owl EFO:1001168|UMLS:C0036457|DOID:5434|MESH:D012608 owl:Class NCBITaxon:333774 biolink:NamedThing unclassified Papillomaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:151340 biolink:NamedThing Papillomaviridae tmpak2llvmy_mondo_relaxed.owl Papillomavirus GC_ID:1|PMID:20206957 ncbi_taxonomy owl:Class MONDO:0009498 biolink:NamedThing lethal Kniest-like dysplasia Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. tmpak2llvmy_mondo_relaxed.owl arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal|Kniest-like dysplasia, lethal ICD10:Q77.8|GARD:0003124|MESH:C537208|Orphanet:2347|UMLS:C1855605|OMIM:245190 https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal owl:Class MONDO:0003253 biolink:NamedThing vulvar granular cell tumor A usually benign granular cell tumor that arises from the vulva. tmpak2llvmy_mondo_relaxed.owl mammalian vulva granular cell tumor|vulvar granular cell tumor|granular cell tumor of mammalian vulva UMLS:C1520083|NCIT:C40328|DOID:5043 owl:Class MONDO:0100092 biolink:NamedThing myoclonus, familial, 2 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. tmpak2llvmy_mondo_relaxed.owl MYOCL2 OMIM:618364 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0004926 biolink:NamedThing submucosa of cystic duct A submucosa that is part of a cystic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cystic duct submucosa|cystic ductal submucosa owl:Class UBERON:0004938 biolink:NamedThing submucosa of biliary tree A submucosa that is part of a biliary tree [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl biliary tract submucosa|biliary tree submucosa|submucosa of biliary tract owl:Class HP:0000522 biolink:NamedThing Alacrima Absence of tear secretion. tmpak2llvmy_mondo_relaxed.owl Absent tear secretion|Absent lacrimal fluids|Absence of tears in the eyes MSH:C562827|UMLS:C0344505|SNOMEDCT_US:253215004 Alacrima is generally a congenital deficiency. human_phenotype owl:Class HP:0000633 biolink:NamedThing Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. tmpak2llvmy_mondo_relaxed.owl Decreased tear secretion UMLS:C0235857 human_phenotype owl:Class HGNC:16287 biolink:NamedThing NFU1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014774 biolink:NamedThing neuroblastoma, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl neuroblastoma, susceptibility to, 7; NBLST7|neuroblastoma, susceptibility to, 7|neuroblastoma, susceptibility to, type 7|NBLST7 OMIM:616792 owl:Class HGNC:9066 biolink:NamedThing PLCG2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001990 biolink:NamedThing regulation of systemic arterial blood pressure by hormone The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. tmpak2llvmy_mondo_relaxed.owl hormonal control of blood pressure|blood pressure regulation by hormone|hormonal regulation of blood pressure owl:Class GO:0003044 biolink:NamedThing regulation of systemic arterial blood pressure mediated by a chemical signal The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. tmpak2llvmy_mondo_relaxed.owl blood pressure regulation mediated by a chemical signal owl:Class MONDO:0011301 biolink:NamedThing pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. tmpak2llvmy_mondo_relaxed.owl pseudohypoparathyroidism, type IB|PHP1B|pseudohypoparathyroidism type IB|Php 1B|pseudohypoparathyroidism, type 1B ICD10:E20.1|UMLS:C2932715|Orphanet:94089|GARD:0010680|MESH:C548075|DOID:0080222|OMIM:603233 https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b owl:Class GO:1904058 biolink:NamedThing positive regulation of sensory perception of pain Any process that activates or increases the frequency, rate or extent of sensory perception of pain. tmpak2llvmy_mondo_relaxed.owl up regulation of nociception|up regulation of sensory perception of pain|upregulation of perception of physiological pain|upregulation of nociception|positive regulation of nociception|activation of sensory perception of pain|up-regulation of perception of physiological pain|positive regulation of perception of physiological pain|activation of nociception|up regulation of perception of physiological pain|up-regulation of sensory perception of pain|up-regulation of nociception|upregulation of sensory perception of pain|activation of perception of physiological pain owl:Class MONDO:0020544 biolink:NamedThing streptococcal toxic-shock syndrome Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. tmpak2llvmy_mondo_relaxed.owl streptococcal TSS|Streptococcus caused toxic shock syndrome|Streptococcus toxic shock syndrome Orphanet:99918|ICD10:A48.3|MedDRA:10044251|SCTID:240451000|UMLS:C0343532 owl:Class MONDO:0001881 biolink:NamedThing toxic shock syndrome A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. tmpak2llvmy_mondo_relaxed.owl toxic shock syndrome, (TSS)|TSS|TSS, toxic shock syndrome|shock syndrome (TSS), toxic|staphylococcal toxic shock syndrome|toxic shock|syndrome (TSS), toxic shock|bacterial toxic-shock syndrome|bacterial TSS|toxic shock syndrome GARD:0009560|Orphanet:36234|ICD9:040.82|SCTID:18504008|UMLS:C0600327|DOID:14115|MESH:D012772|NCIT:C35498|ICD10:A48.3|UMLS:CN204669 owl:Class MONDO:0018735 biolink:NamedThing multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. tmpak2llvmy_mondo_relaxed.owl MLT1|MLT|MALT1 wt allele|multifocal lymphangioendotheliomatosis with thrombocytopenia|cutaneovisceral angiomatosis-thrombocytopenia syndrome|DKFZp434L132|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele Orphanet:464321|GARD:0010467|UMLS:CN242151|ICD10:D18.1|NCIT:C60672 owl:Class MONDO:0014150 biolink:NamedThing childhood onset epileptic encephalopathy An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, childhood-onset|CHCHD10-related disorders|EEOC|CHD2 myoclonic encephalopathy|childhood onset epileptic encephalopathy|childhood-onset epileptic encephalopathy UMLS:C3809278|GARD:0013197|DOID:0060475|OMIM:615369 owl:Class MONDO:0001313 biolink:NamedThing acute allergic serous otitis media A acute serous otitis media caused by an allergen. tmpak2llvmy_mondo_relaxed.owl UMLS:C0155418|ICD9:381.04|DOID:11558|SCTID:59275002 owl:Class MONDO:0001312 biolink:NamedThing acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. tmpak2llvmy_mondo_relaxed.owl acute non-suppurative otitis media - serous ICD10:H65.00|DOID:11557|ICD10:H65.0|SCTID:194240006|ICD9:381.01|UMLS:C0155415 owl:Class MONDO:0018738 biolink:NamedThing benign metanephric tumour A benign neoplasm that involves the metanephros. tmpak2llvmy_mondo_relaxed.owl Orphanet:464359|UMLS:CN242075|ICD10:D30.0 owl:Class MONDO:0009721 biolink:NamedThing Nathalie syndrome Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. tmpak2llvmy_mondo_relaxed.owl deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness-cataract-skeletal anomalies syndrome|deafness-cataracts-skeletal anomalies syndrome|Nathalie syndrome ICD10:Q87.8|OMIM:255990|MESH:C538342|Orphanet:2663|GARD:0003929|UMLS:C1850626|SCTID:716170005 https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome owl:Class MONDO:0009190 biolink:NamedThing epiphyseal dysplasia of femoral head, myopia, and deafness tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia of femoral head, myopia, and deafness MESH:C565585|OMIM:226950|UMLS:C1856918 owl:Class MONDO:0021372 biolink:NamedThing neoplasm of temporal lobe A neoplasm (disease) that involves the temporal lobe. tmpak2llvmy_mondo_relaxed.owl tumor of temporal lobe|temporal lobe neoplasm|temporal lobe neoplasm (disease)|tumor of the temporal lobe|neoplasm of temporal lobe|neoplasm of the temporal lobe|temporal lobe tumor UMLS:C1263887|NCIT:C5567|SCTID:126955002 owl:Class MONDO:0011732 biolink:NamedThing familial digital arthropathy-brachydactyly Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl FDAB|digital arthropathy-brachydactyly, familial UMLS:C1847406|MESH:C564656|ICD10:M06.8|Orphanet:85169|OMIM:606835 owl:Class MONDO:0000977 biolink:NamedThing chondroid lipoma A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. tmpak2llvmy_mondo_relaxed.owl NCIT:C6503|UMLS:C1266131|DOID:10208|ICDO:8862/0|SCTID:404065000 owl:Class UBERON:0011767 biolink:NamedThing right recurrent laryngeal nerve tmpak2llvmy_mondo_relaxed.owl right recurrent laryngeal nerve|vagus X nerve right recurrent laryngeal branch|right recurrent laryngeal branch owl:Class MONDO:0011716 biolink:NamedThing acute hemorrhagic leukoencephalitis Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. tmpak2llvmy_mondo_relaxed.owl Weston-Hurst syndrome|acute hemorrhagic leukoencephalitis|acute necrotizing hemorrhagic leukoencephalitis|acute haemorrhagic leucoencephalitis of Weston Hurst|acute hemorrhagic encephalomyelitis|AHLE|AHL|Ahl GARD:0008629|EFO:0007132|ICD9:136.9|NCIT:C84535|OMIM:606752|MESH:D004684|DOID:10992|SCTID:72986009|UMLS:C0014077 https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis owl:Class MONDO:0008214 biolink:NamedThing Pelger-Huet anomaly An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. tmpak2llvmy_mondo_relaxed.owl ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities|Pelger-Huet anomaly|Pelger-Huet nuclear anomaly|Pelger Huet anomaly|PHA SCTID:85559002|GARD:0009148|UMLS:C0030779|MedDRA:10029377|DOID:9631|MESH:D010381|OMIM:169400|NCIT:C85002|EFO:1001093 owl:Class ECTO:9001982 biolink:NamedThing exposure to anti-inflammatory agent An exposure to anti-inflammatory agent. tmpak2llvmy_mondo_relaxed.owl exposure to anti-inflammatory agent owl:Class UBERON:0019261 biolink:NamedThing white matter of forebrain A white matter that is part of the forebrain. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35724 biolink:NamedThing carbohydrate sulfate tmpak2llvmy_mondo_relaxed.owl carbohydrate sulfates|carbohydrate sulphates owl:Class MONDO:0014371 biolink:NamedThing developmental and epileptic encephalopathy, 23 tmpak2llvmy_mondo_relaxed.owl DEE18|early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epileptic encephalopathy, early infantile, type 23|developmental and epileptic encephalopathy, 23|EIEE23|epileptic encephalopathy, early infantile, 23 Orphanet:411986|DOID:0080415|OMIM:615859|ICD10:G40.4|UMLS:C4014492 owl:Class GO:1905332 biolink:NamedThing positive regulation of morphogenesis of an epithelium Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. tmpak2llvmy_mondo_relaxed.owl activation of morphogenesis of an epithelium|up regulation of epithelium morphogenesis|up-regulation of epithelium morphogenesis|positive regulation of epithelium morphogenesis|upregulation of morphogenesis of an epithelium|up regulation of morphogenesis of an epithelium|up-regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|activation of epithelium morphogenesis owl:Class ECTO:4000002 biolink:NamedThing exposure to increased salt A exposure event involving the interaction of an exposure receptor to increased amount of salt. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in salt owl:Class UBERON:0003360 biolink:NamedThing epithelium of parotid gland An epithelium that is part of a parotid gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl parotid gland duct epithelium|parotid gland epithelial tissue|parotid epithelial tissue|parotid epithelium|epithelium of parotid gland|epithelium of parotid|parotid gland epithelium|epithelial tissue of parotid gland owl:Class CHEBI:48154 biolink:NamedThing sulfur oxide tmpak2llvmy_mondo_relaxed.owl oxides of sulfur|sulfur oxides|Schwefeloxide owl:Class MONDO:0054831 biolink:NamedThing Coffin-Siris syndrome 7 tmpak2llvmy_mondo_relaxed.owl CSS7|COFFIN-SIRIS syndrome 7 OMIM:618027|UMLS:CN248780 owl:Class GO:1902573 biolink:NamedThing positive regulation of serine-type peptidase activity Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity. tmpak2llvmy_mondo_relaxed.owl up-regulation of serine protease activity|up-regulation of serine-type peptidase activity|up regulation of serine protease activity|upregulation of serine protease activity|activation of serine-type peptidase activity|upregulation of serine-type peptidase activity|positive regulation of serine protease activity|activation of serine protease activity|up regulation of serine-type peptidase activity owl:Class GO:0016866 biolink:NamedThing intramolecular transferase activity Catalysis of the transfer of a functional group from one position to another within a single molecule. tmpak2llvmy_mondo_relaxed.owl mutase activity|intramolecular transferase activity, transferring other groups owl:Class GO:0016853 biolink:NamedThing isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpak2llvmy_mondo_relaxed.owl other isomerase activity owl:Class MONDO:0007604 biolink:NamedThing femoral-facial syndrome Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. tmpak2llvmy_mondo_relaxed.owl femoral hypoplasia unusual facies syndrome|FHUFS|femoral dysgenesis, bilateral|femoral-facial syndrome|FFS|femoral hypoplasia-unusual facies syndrome|femoral facial syndrome OMIM:134780|ICD9:759.89|GARD:0000061|MESH:C537916|ICD10:Q87.8|Orphanet:1988|SCTID:13280000 https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome owl:Class MONDO:0007793 biolink:NamedThing hypochondroplasia Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. tmpak2llvmy_mondo_relaxed.owl hypochondroplasia|HCH Orphanet:429|UMLS:C0410529|DOID:0080041|OMIM:146000|GARD:0006724|MESH:C562937|SCTID:205468002|ICD10:Q77.4|MedDRA:10020967|ICD9:756.9|NCIT:C118697 https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia owl:Class MONDO:0019685 biolink:NamedThing FGFR3-related chondrodysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:93420 owl:Class MONDO:0032816 biolink:NamedThing neurodevelopmental disorder with ataxia, hypotonia, and microcephaly tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY|NEDAHM OMIM:618569 owl:Class UBERON:0006284 biolink:NamedThing early prosencephalic vesicle future brain vesicle that gives rise to telencephalic ventricle/lateral ventricles and 3rd ventricle tmpak2llvmy_mondo_relaxed.owl preevaginated forebrain vesicle|prosencephalic ventricle|forebrain vesicle|forebrain ventricle|prosencephalic vesicle owl:Class UBERON:0011148 biolink:NamedThing submucosal gland Gland of the lamina epithelialis mucosae which perforate the lamina muscularis, with their adenomeres located in the submucosal connective tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016306 biolink:NamedThing Niemann-Pick disease type C, severe perinatal form tmpak2llvmy_mondo_relaxed.owl UMLS:CN201112|Orphanet:216972|ICD10:E75.2 owl:Class MONDO:0018982 biolink:NamedThing Niemann-Pick disease type C NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. tmpak2llvmy_mondo_relaxed.owl NPC SCTID:66751000|ICD10:E75.2|Orphanet:646|MESH:D052556 owl:Class MONDO:0019438 biolink:NamedThing AL amyloidosis AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. tmpak2llvmy_mondo_relaxed.owl primary amyloidosis (formerly)|amyloidosis AL|amyloidosis primary systemic|Light chain amyloidosis|systemic AL amyloidsis|primary systemic amyloidosis|Light-chain amyloidosis|primary systemic AL amyloidosis|primary amyloidosis|primary AL amyloidosis UMLS:C0268381|Orphanet:85443|MESH:C531616|MedDRA:10036673|ICD10:E85.9|GARD:0005797 owl:Class UBERON:0015002 biolink:NamedThing radius-ulna endochondral element A radius-ulna bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl radius-ulna element|radius-ulna skeletal element owl:Class MONDO:0013849 biolink:NamedThing microcephaly 8, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in CEP135|CEP135 autosomal recessive primary microcephaly|MCPH8|microcephaly 8, primary, autosomal recessive DOID:0070282|OMIM:614673|UMLS:C3553414 owl:Class MONDO:0000820 biolink:NamedThing cerebral cavernous malformation A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. tmpak2llvmy_mondo_relaxed.owl cerebral cavernous malformation|cavernous angiomatous malformations|CCM|cerebral capillary malformations|familial cavernous angioma DOID:0060669|NCIT:C84626 owl:Class HGNC:92 biolink:NamedThing ACADVL tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1869 biolink:NamedThing CETP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004537 biolink:NamedThing intestinal variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl cervical mucinous adenocarcinoma, intestinal-type|cervical mucinous adenocarcinoma, intestinal variant|intestinal type mucinous carcinoma UMLS:C1516422|NCIT:C40203|DOID:8339|ONCOTREE:ICEMU owl:Class MONDO:0032688 biolink:NamedThing polymicrogyria with or without vascular-type ehlers-danlos syndrome tmpak2llvmy_mondo_relaxed.owl POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME|PMGEDSV OMIM:618343 owl:Class HP:0008372 biolink:NamedThing Abnormality of vitamin A metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:C4024686 peter 2008-04-04T12:29:00Z human_phenotype owl:Class HP:0100508 biolink:NamedThing Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. tmpak2llvmy_mondo_relaxed.owl Abnormality of vitamin metabolism UMLS:C4022036 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. doelkens 2010-12-17T06:17:22Z human_phenotype owl:Class MONDO:0060707 biolink:NamedThing Ververi-Brady syndrome tmpak2llvmy_mondo_relaxed.owl Ververi-Brady syndrome|VERBRAS Orphanet:580940|OMIM:617982|UMLS:CN244927 owl:Class MONDO:0003261 biolink:NamedThing papillary meningioma of the cerebellum A papillary meningioma that affects the cerebellum. tmpak2llvmy_mondo_relaxed.owl cerebellum papillary meningioma|papillary meningioma of the cerebellum|papillary meningioma of cerebellum|cerebellar papillary meningioma UMLS:C1332902|NCIT:C5270|DOID:5057 owl:Class MONDO:0005408 biolink:NamedThing diabetes mellitus type 2 associated cataract Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism tmpak2llvmy_mondo_relaxed.owl EFO:0004596 owl:Class MONDO:0004786 biolink:NamedThing chronic cholangitis Cholangitis that is persistent and long-standing. tmpak2llvmy_mondo_relaxed.owl cholangitis, chronic UMLS:C0267918|NCIT:C35335|SCTID:71912000|DOID:9439 owl:Class MONDO:0005327 biolink:NamedThing hip fracture Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. tmpak2llvmy_mondo_relaxed.owl SCTID:263225007|EFO:0003964|MESH:D006620 owl:Class MONDO:0018004 biolink:NamedThing acute megakaryoblastic leukemia without down syndrome tmpak2llvmy_mondo_relaxed.owl non-DS-AMKL UMLS:CN204216|ICD10:C94.2|Orphanet:329469 owl:Class ECTO:0001152 biolink:NamedThing exposure to organochlorine compound An exposure to organochlorine compound. tmpak2llvmy_mondo_relaxed.owl exposure to organochlorine compound owl:Class MONDO:0000282 biolink:NamedThing Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations. tmpak2llvmy_mondo_relaxed.owl DOID:0050199 owl:Class MONDO:0007345 biolink:NamedThing aorta coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. tmpak2llvmy_mondo_relaxed.owl coarctation of aorta|coarctation of the aorta|aortic coarctation Orphanet:1457|UMLS:C0003492|ICD10:Q25.1|ICD9:747.10|NCIT:C84567|MedDRA:10009807|OMIM:120000|MESH:D001017|GARD:0005828|EFO:1001267|SCTID:7305005 owl:Class MONDO:0030911 biolink:NamedThing intellectual disability, autosomal dominant 46 tmpak2llvmy_mondo_relaxed.owl MRD46|autosomal dominant intellectual disability 46|mental retardation, autosomal dominant 46|autosomal dominant mental retardation 46|intellectual disability, autosomal dominant 46 OMIM:617601|UMLS:CN371052|DOID:0080237 owl:Class NCBITaxon:226665 biolink:NamedThing Rickettsia heilongjiangensis tmpak2llvmy_mondo_relaxed.owl Rickettsia heilongjiangii GC_ID:11|PMID:14662925|PMID:10970415 NCBITaxon:131729 ncbi_taxonomy owl:Class MONDO:0020354 biolink:NamedThing coloboma of choroid and retina Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. tmpak2llvmy_mondo_relaxed.owl retinal coloboma|choroidal coloboma|retinochoroidal coloboma Orphanet:98942|SCTID:39302008|ICD10:Q14.8|GARD:0001432 owl:Class CL:0009006 biolink:NamedThing enteroendocrine cell of small intestine An enteroendocrine cell that is located in the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestine enteroendocrine cell owl:Class MONDO:0002563 biolink:NamedThing jejunal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. tmpak2llvmy_mondo_relaxed.owl Delta cell tumor of the jejunum|jejunal somatostatin producing tumor|jejunal delta cell somatostatin producing tumor|Delta cell tumor of jejunum|jejunal somatostatin-producing NET|jejunal somatostatin-producing neuroendocrine tumor|Somatosatinoma of jejunum|Somatosatinoma of the jejunum UMLS:C1334297|NCIT:C5787|DOID:3216 owl:Class MONDO:0015064 biolink:NamedThing jejunal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. tmpak2llvmy_mondo_relaxed.owl jejunal neuroendocrine tumor|jejunal neuroendocrine neoplasm NCIT:C135090|Orphanet:100077|UMLS:CN197357 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0003730 biolink:NamedThing aleukemic leukemia A leukemia characterized by the absence of leukemic cells in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl aleukemic leukemia|aleukemic myelosis|subleukemic leukemia UMLS:C0877858|DOID:6004|ICD9:208.80|SCTID:302856006|DOID:12965|NCIT:C4982 MONDO:0001605 owl:Class UBERON:0003668 biolink:NamedThing synovial bursa A small fluid-filled sac lined by synovial membrane with an inner capillary layer of slimy fluid. It provides a cushion between bones and tendons and/or muscles around a joint. This helps to reduce friction between the bones and allows free movement. Bursae are filled with synovial fluid and are found around most major joints of the body. tmpak2llvmy_mondo_relaxed.owl bursa synovialis|bursa owl:Class MONDO:0001911 biolink:NamedThing tracheal calcification Abnormal deposits of calcium in the tracheal tissue. tmpak2llvmy_mondo_relaxed.owl calcification of trachea SCTID:81089005|DOID:14224|HP:0002787|ICD9:519.19|UMLS:C0264324 Editor note: consider ceding to HPO owl:Class MONDO:0010629 biolink:NamedThing impacted teeth, multiple tmpak2llvmy_mondo_relaxed.owl impacted teeth, multiple OMIM:308280 owl:Class CL:0019020 biolink:NamedThing extrahepatic cholangiocyte An epithelial cell of the extrahepatic bile ducts, including the left and right hepatic duct, common hepatic duct, and common bile duct. They are columnar in shape, and have a large nuclear-to-cytoplasmic ratio relative to small/intrahepatic cholangiocytes. tmpak2llvmy_mondo_relaxed.owl large bile duct cholangiocyte 2020-09-03 12:24:24+00:00 owl:Class MONDO:0011919 biolink:NamedThing autoimmune disease, susceptibility to, 1 Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. tmpak2llvmy_mondo_relaxed.owl autoimmune disease susceptibility locus, chromosome 1P-related|susceptibility to autoimmune disease 1|autoimmune disease, susceptibility to, 1|autoimmune disease caused by mutation in FOXD3|AIS1|vitiligo-associated multiple autoimmune disease susceptibility 2|autoimmune disease, susceptibility to, type 1|FOXD3 autoimmune disease OMIM:607836 owl:Class MONDO:0024609 biolink:NamedThing vulvar squamous cell carcinoma An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003) tmpak2llvmy_mondo_relaxed.owl mammalian vulva squamous cell carcinoma|vulvar epidermoid carcinoma|epidermoid cell carcinoma of vulva|epidermoid carcinoma of the vulva|vulvar epidermoid cell carcinoma|vulvar squamous cell carcinoma|vulva epidermoid cell carcinoma|squamous cell carcinoma of vulva|vulva squamous cell carcinoma|vulva epidermoid carcinoma|epidermoid carcinoma of vulva|squamous cell carcinoma of the vulva|epidermoid cell carcinoma of the vulva|vulvar squamous cell cancer UMLS:C0280856|EFO:1000624|Orphanet:494448|DOID:2101|NCIT:C4052|SCTID:254895003 owl:Class MONDO:0032931 biolink:NamedThing pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal tmpak2llvmy_mondo_relaxed.owl Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL|Phrinl Syndrome|PHRINL OMIM:618810 owl:Class MONDO:0016457 biolink:NamedThing ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.0|UMLS:CN201421|Orphanet:228396 owl:Class CHEBI:33710 biolink:NamedThing alpha-amino-acid residue tmpak2llvmy_mondo_relaxed.owl alpha-amino-acid residues owl:Class OBO:CHR_9606-chr15q2 biolink:NamedThing chr15q2 (Human) tmpak2llvmy_mondo_relaxed.owl 101991189 44500000 hg38 owl:Class MONDO:0010392 biolink:NamedThing glycogen storage disease due to phosphoglycerate kinase 1 deficiency Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. tmpak2llvmy_mondo_relaxed.owl Phosphoglycerate kinase deficiency|glycogen storage disease due to phosphoglycerate kinase 1 deficiency|glycogen storage disease caused by mutation in PGK1|glycogenosis due to phosphoglycerate kinase 1 deficiency|PGK deficiency|PGK1 glycogen storage disease|PHOSPHOGLYCERATE KINASE 1 deficiency|GSD due to phosphoglycerate kinase 1 deficiency|Pgk1 deficiency UMLS:C1970848|OMIM:300653|Orphanet:713|GARD:0007389|MESH:C567067|NCIT:C126738|ICD10:E74.0 owl:Class MONDO:0004949 biolink:NamedThing neoplasm of mature B-cells A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). tmpak2llvmy_mondo_relaxed.owl mature B-cell neoplasm|mature B-cell neoplasms|mature B-cell lymphocytic neoplasm DOID:706|SCTID:269476000|ICD9:202.0|UMLS:C1334633|ONCOTREE:MBN|NCIT:C27910|EFO:0000096 Editor note: is a non-hodgkin in ONCOTREE owl:Class MONDO:0008517 biolink:NamedThing syndactyly-polydactyly-ear lobe syndrome tmpak2llvmy_mondo_relaxed.owl syndactyly-polydactyly-earlobe syndrome|hallux syndactyly ulnar polydactyly abnormal ear lobes|Spel syndrome OMIM:186350|Orphanet:3259|GARD:0005090|UMLS:C1861347|MESH:C566091 owl:Class MONDO:0021531 biolink:NamedThing fibroma of lung A fibroma that involves the lung. tmpak2llvmy_mondo_relaxed.owl lung fibroma|pulmonary fibroma|fibroma of the lung UMLS:C1334444|SCTID:707387004|NCIT:C5658 owl:Class MONDO:0005246 biolink:NamedThing osteomyelitis An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. tmpak2llvmy_mondo_relaxed.owl osteomyelitis (disease)|osteomyelitis osteomyelitis (disease) ICD9:730.94|DOID:1019|GARD:0007286|ICD9:730.01|ICD9:730.11|HP:0002754|ICD9:730.96|MESH:D010019|ICD9:730.10|ICD9:730.93|ICD9:730.1|UMLS:C0029443|ICD9:730.20|SCTID:60168000|NCIT:C27577|ICD9:730.0|ICD9:730.92|ICD9:730.28|ICD9:730.97|EFO:0003102 owl:Class MONDO:0014372 biolink:NamedThing cone-rod dystrophy 19 Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 19|TTLL5 cone-rod dystrophy|cone-rod dystrophy 19|cone-rod dystrophy caused by mutation in TTLL5|CORD19 DOID:0111025|UMLS:C4014501|OMIM:615860 owl:Class MONDO:0014316 biolink:NamedThing Alzheimer disease 19 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease caused by mutation in PLD3|PLD3 Alzheimer disease|Alzheimer disease 19|Alzheimer disease type 19|AD19|Alzheimer's disease 19|Alzheimer's disease type 19|Alzheimer disease 19, late-onset|Alzheimer disease 19 late onset UMLS:C3810349|OMIM:615711|DOID:0110051 owl:Class MONDO:0015009 biolink:NamedThing lymphatic malformation 7 tmpak2llvmy_mondo_relaxed.owl hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|HFASD OMIM:617300 owl:Class MONDO:0004316 biolink:NamedThing acantholytic squamous cell skin carcinoma A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. tmpak2llvmy_mondo_relaxed.owl acantholytic squamous cell carcinoma of the skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of skin DOID:7643|UMLS:C0345979|NCIT:C4460|SCTID:254654004 owl:Class UBERON:0011846 biolink:NamedThing acinus of sebaceous gland An acinus that is part of a sebaceous gland. tmpak2llvmy_mondo_relaxed.owl sebaceous gland acinus owl:Class HP:0100261 biolink:NamedThing Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of tendon|Abnormality of the sinew UMLS:C4021026 A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. doelkens 2010-07-20T01:20:19Z human_phenotype owl:Class MONDO:0021925 biolink:NamedThing tracheobronchitis Inflammation of the tracheobronchial tree. tmpak2llvmy_mondo_relaxed.owl Tracheobronchitis|tracheobronchitis SCTID:13617004|NCIT:C122784|UMLS:C0040586 owl:Class HGNC:21244 biolink:NamedThing LEMD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021227 biolink:NamedThing adrenal gland neoplasm A neoplasm (disease) that involves the adrenal gland. tmpak2llvmy_mondo_relaxed.owl adrenal neoplasms|neoplasm of the adrenal gland|neoplasm of adrenal gland|adrenal tumor|adrenal gland neoplasm (disease)|tumor of the adrenal gland|adrenal gland tumor|tumor of adrenal gland|adrenal neoplasm|ADRENALGLAND ONCOTREE:ADRENALGLAND|EFO:0003850|NCIT:C2859 owl:Class MONDO:0019385 biolink:NamedThing steroid-responsive encephalopathy associated with autoimmune thyroiditis tmpak2llvmy_mondo_relaxed.owl SREAT|Hashimoto encephalitis|Hashimoto's encephalopathy|Hashimoto's encephalitis|steroid-responsive encephalopathy associated with thyroid disease Orphanet:83601|UMLS:C0393639|ICD10:G04.8|MESH:C535841|GARD:0008570 Editor note: TODO DP for chebi roles owl:Class MONDO:0100029 biolink:NamedThing antibody mediated epilepsy An immune epilepsy where the underlying cause is antibody mediated. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 00:52:42+00:00 owl:Class UBERON:0001094 biolink:NamedThing sacral vertebra A vertebra bone that is part of the sacral region of the vertebral column. tmpak2llvmy_mondo_relaxed.owl sacral segment|segment of sacrum owl:Class HP:0002648 biolink:NamedThing Abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. tmpak2llvmy_mondo_relaxed.owl Abnormality of the shape of skull bones|Abnormal cranium morphology|Abnormality of cranial bone morphology|Abnormally shaped skull|Abnormality of skull bone morphology|Abnormality of the shape of calvarium|Abnormality of the shape of cranium UMLS:C4280260|UMLS:C4025692 human_phenotype owl:Class HP:0002683 biolink:NamedThing Abnormality of the calvaria Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. tmpak2llvmy_mondo_relaxed.owl Abnormality of the skull cap|Abnormality of cranial vault|Abnormality of calvarium|Abnormality of the skullcap|Abnormality of cranium UMLS:C4025691|UMLS:C4280561 The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. human_phenotype owl:Class UBERON:0036352 biolink:NamedThing wall of subclavian artery tmpak2llvmy_mondo_relaxed.owl subclavian arterial wall owl:Class HGNC:10402 biolink:NamedThing RPS19 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:59740 biolink:NamedThing nucleophilic reagent A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. tmpak2llvmy_mondo_relaxed.owl nucleophilic reagents|nucleophile|nucleophiles owl:Class CHEBI:39144 biolink:NamedThing Lewis base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. tmpak2llvmy_mondo_relaxed.owl Lewis base|Lewis-Base|donneur d'une paire d'electrons|electron donor|base de Lewis owl:Class HGNC:11922 biolink:NamedThing CD27 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025271 biolink:NamedThing trypanosomiasis, bovine Infection in cattle caused by various species of trypanosomes. tmpak2llvmy_mondo_relaxed.owl bovine trypanosomiasis|bovine Trypanosomiases|Trypanosomiases, bovine UMLS:C0041230|MESH:D014354 owl:Class MONDO:0025114 biolink:NamedThing protozoan infections, animal Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. tmpak2llvmy_mondo_relaxed.owl infection, animal protozoan|animal protozoan infections|protozoan infection, animal|infections, animal protozoan|animal protozoan infection UMLS:C0033741|MESH:D011529 owl:Class MONDO:0001901 biolink:NamedThing selective IgG subclass deficiency A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. tmpak2llvmy_mondo_relaxed.owl selective IgG immunodeficiency|selective IgG deficiency disease|selective immunoglobulin G deficiency|selective Immunoglobulin G subclass deficiency|Immunoglobin G subclass deficiency|selective deficiency of IgG ICD10:D80.3|ICD9:279.03|NCIT:C27024|SCTID:190981001|DOID:14176|MESH:D017099 owl:Class MONDO:0045045 biolink:NamedThing selective IgG immunodeficiency A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. tmpak2llvmy_mondo_relaxed.owl IgG deficiency|IgG subclass deficiency|selective IgG immunodeficiency SCTID:12631000119106|NCIT:C27142|UMLS:C0162539|GARD:0010371 owl:Class UBERON:0003297 biolink:NamedThing gland of integumental system A gland that is part of a integumental system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl integumental system gland|integumental gland|integumentary gland owl:Class UBERON:0001684 biolink:NamedThing mandible A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. tmpak2llvmy_mondo_relaxed.owl inferior maxillary bone|mandibular series|lower jaw|mammaliam mandible|mandibula|mandibulla|lower mandibula|lower jaw bone owl:Class UBERON:0004950 biolink:NamedThing submucosa of lobar bronchus A submucosa that is part of a lobar bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of secondary bronchus|secondary bronchus submucosa|lobar bronchus submucosa|lobar bronchial submucosa owl:Class MONDO:0004612 biolink:NamedThing malignant histiocytosis Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells. tmpak2llvmy_mondo_relaxed.owl malignant reticulosis|disorders, malignant histiocytic|histiocytic medullary reticulosis|malignant histiocytic disorders|malignant histiocytic disease|histiocytic disorder, malignant|Stewart's granuloma|malignant midline reticulosis ICD10:C96.1|ICD10:C96.A|EFO:1001499|NCIT:C7202|UMLS:C0019623|DOID:8580|DOID:2570|ICDO:9750/3|SCTID:118612006|ICD9:202.3|MESH:D015620 owl:Class ENVO:03000111 biolink:NamedThing snow mass A mass of snow. tmpak2llvmy_mondo_relaxed.owl accumulation of snow|snow accumulation owl:Class GO:0031946 biolink:NamedThing regulation of glucocorticoid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035049 biolink:NamedThing excretory duct of salivary gland Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035050 biolink:NamedThing excretory duct tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0071702 biolink:NamedThing organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043176 biolink:NamedThing phosphoribosylpyrophosphate synthetase deficiency tmpak2llvmy_mondo_relaxed.owl PRPP synthetase deficiency|deafness hyperuricemia neurologic ataxia UMLS:C2931079|GARD:0004337|MESH:C537897|MESH:C535995|SCTID:124343001|GARD:0001690|UMLS:C1291401|HGNC:9462 https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity owl:Class MONDO:0017114 biolink:NamedThing global cerebellar malformation tmpak2llvmy_mondo_relaxed.owl diffuse cerebellar malformation Orphanet:269224|ICD10:Q04.3 owl:Class UBERON:5106048 biolink:NamedThing digit 1 digitopodial skeleton A subdivision of the skeleton of the autopod consisting of the phalanges of digit 1 plus the associated metapodial element. tmpak2llvmy_mondo_relaxed.owl digit 1 skeleton|digit I digitopodial skeleton|digit 1 owl:Class MONDO:0010588 biolink:NamedThing exudative vitreoretinopathy 2, X-linked Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. tmpak2llvmy_mondo_relaxed.owl exudative vitreoretinopathy caused by mutation in NDP|Fevr, X-linked|EVR2|NDP exudative vitreoretinopathy|exudative vitreoretinopathy 2, X-linked|Evrx|exudative vitreoretinopathy, familial, 2 OMIM:305390|MESH:C564428|DOID:0111413|UMLS:C1844579 owl:Class MONDO:0010848 biolink:NamedThing spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 5|SCA5|spinocerebellar ataxia 5 GARD:0004953|ICD10:G11.2|SCTID:719302009|UMLS:C0752123|OMIM:600224|Orphanet:98766|DOID:0050882 owl:Class UBERON:0004817 biolink:NamedThing lacrimal gland epithelium An epithelium that is part of a lacrimal gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of lacrimal gland|epithelial tissue of lacrimal gland|lacrimal gland epithelial tissue owl:Class ECTO:9002066 biolink:NamedThing exposure to refrigerant An exposure to refrigerant. tmpak2llvmy_mondo_relaxed.owl exposure to refrigerant owl:Class MONDO:0018702 biolink:NamedThing Castleman-Kojima disease A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly tmpak2llvmy_mondo_relaxed.owl thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|TAFRO syndrome UMLS:CN237773|Orphanet:457077|ICD10:M35.8 owl:Class MONDO:0016428 biolink:NamedThing multiple sclerosis variant tmpak2llvmy_mondo_relaxed.owl Orphanet:228145 owl:Class ENVO:00000002 biolink:NamedThing anthropogenic geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. tmpak2llvmy_mondo_relaxed.owl man-made feature|manmade feature owl:Class ENVO:00000000 biolink:NamedThing geographic feature tmpak2llvmy_mondo_relaxed.owl macroscopic spatial feature owl:Class MONDO:0012293 biolink:NamedThing autosomal recessive nonsyndromic deafness 23 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive type 23|autosomal recessive nonsyndromic deafness type 23|DFNB23|PCDH15 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|deafness, autosomal recessive 23|autosomal recessive deafness 23 DOID:0110481|ICD10:H90.3|UMLS:C1836027|MESH:C563705|OMIM:609533 owl:Class MONDO:0012509 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 1 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. tmpak2llvmy_mondo_relaxed.owl Cushing syndrome, adrenal, due to PPNAD1|PRKAR1A primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 1|pigmented nodular adrenocortical disease, primary, 1|adrenocortical nodular dysplasia, primary|PPNAD1|pigmented micronodular adrenocortical disease, primary, 1|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A MESH:C566469|OMIM:610489 owl:Class CL:0002341 biolink:NamedThing basal cell of prostate epithelium An undifferentiated cell of the prostate epithelium that lacks secretory activity. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-20T03:34:10Z cell owl:Class CL:0010022 biolink:NamedThing cardiac neuron tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:53551 biolink:NamedThing Sabethes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:27369 biolink:NamedThing zwitterion A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). tmpak2llvmy_mondo_relaxed.owl zwitterionic compounds|zwitterions|zwitterion|compuestos zwitterionicos|compose zwitterionique|zwitteriones owl:Class MONDO:0007244 biolink:NamedThing Caffey disease Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. tmpak2llvmy_mondo_relaxed.owl cortical congenital hyperostosis|infantile cortical hyperostosis|Caffey disease MESH:D006958|SCTID:24752008|DOID:4257|ICD10:M89.8|OMIM:114000|NCIT:C118423|Orphanet:1310|ICD9:756.59|GARD:0001051|UMLS:C0020497 owl:Class MONDO:0016589 biolink:NamedThing progressive cerebello-cerebral atrophy tmpak2llvmy_mondo_relaxed.owl PCCA Orphanet:247198 owl:Class MONDO:0003163 biolink:NamedThing cauda equina intradural extramedullary astrocytoma tmpak2llvmy_mondo_relaxed.owl intradural extramedullary Cauda equina astrocytoma|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary astrocytic tumor of the Cauda equina DOID:4846|UMLS:C1334254|NCIT:C5408 owl:Class MONDO:0024251 biolink:NamedThing Minamata disease A neurological syndrome caused by severe mercury poisoning. tmpak2llvmy_mondo_relaxed.owl Chisso-Minamata disease SCTID:39640004|UMLS:CN200665 owl:Class MONDO:0005181 biolink:NamedThing progressive external ophthalmoplegia A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia [ambiguous] SCTID:46252003|MESH:D017246|ICD9:378.72|DOID:12558|GARD:0004503|ICD10:H49.4|HP:0000590|EFO:0002509|Orphanet:520820 owl:Class GO:0098798 biolink:NamedThing mitochondrial protein-containing complex A protein complex that is part of a mitochondrion. tmpak2llvmy_mondo_relaxed.owl mitochondrial protein complex owl:Class MONDO:0007042 biolink:NamedThing Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. tmpak2llvmy_mondo_relaxed.owl Chotzen syndrome|SCS|acrocephalo-syndactyly, type 3|ACS 3|Saethre-Chotzen syndrome with eyelid anomalies|blepharophimosis, epicanthus inversus, and ptosis 3|acrocephalosyndactyly type 3|ACS3|acrocephalosyndactyly, type 3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly|type III Acrocephalosyndactyly|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephalosyndactyly type III|Saethre-Chotzen syndrome|acrocephaly, skull asymmetry, and mild syndactyly GARD:0007598|EFO:0007029|DOID:14768|OMIM:101400|SCTID:83015004|UMLS:C0175699|NCIT:C75034|Orphanet:794|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome owl:Class NCBITaxon:12089 biolink:NamedThing Coxsackievirus A24 tmpak2llvmy_mondo_relaxed.owl Human enterovirus CVA24|CV-A24|Human coxsackievirus A24|Coxsackievirus A-24 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003501 biolink:NamedThing external ear squamous cell carcinoma A squamous cell carcinoma that arises from the skin of the external ear. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of external ear|epidermoid carcinoma of external Ear|squamous cell carcinoma of external Ear|squamous cell carcinoma of the external Ear|epidermoid carcinoma of the external ear|external Ear squamous cell carcinoma|epidermoid carcinoma of the external Ear|external ear squamous cell carcinoma|external Ear epidermoid carcinoma DOID:5538|UMLS:C1333494|NCIT:C6083 owl:Class MONDO:0006888 biolink:NamedThing paraneoplastic polyneuropathy A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. tmpak2llvmy_mondo_relaxed.owl paraneoplastic polyneuropathy ICD9:357.3|EFO:1001085|SCTID:77659000|MedDRA:10062289|DOID:8681|MESH:D020364|NCIT:C3981|UMLS:C0270932 owl:Class GO:0006873 biolink:NamedThing cellular ion homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050801 biolink:NamedThing ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl regulation of ion homeostasis|electrolyte homeostasis|negative regulation of crystal formation owl:Class MONDO:0013458 biolink:NamedThing hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome tmpak2llvmy_mondo_relaxed.owl HUPRA syndrome|Hupra syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|HUPRAS UMLS:C3151209|Orphanet:363694|ICD10:N15.8|OMIM:613845 owl:Class UBERON:0037144 biolink:NamedThing wall of heart wall of organ which has as its parts the endocardium, myocardium , epicardium, and the cardiac septum, surrounded by the pericardial sac proper and is continuous with the walls of the systemic and pulmonary arterial and venous trees. tmpak2llvmy_mondo_relaxed.owl cardiac wall owl:Class UBERON:0006190 biolink:NamedThing mesonephric distal tubule The mesonephric distal tubule is a mesonephric nephron tubule that begins at the macula densa and extends to the mesonephric connecting tubule tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004135 biolink:NamedThing distal tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments tmpak2llvmy_mondo_relaxed.owl kidney distal tubule|renal distal tubule owl:Class MONDO:0006701 biolink:NamedThing chromophobe adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. tmpak2llvmy_mondo_relaxed.owl chromophobe adenoma of pituitary gland|pituitary chromophobe adenoma|pituitary gland chromophobe adenoma|chromophobe adenoma of the pituitary gland DOID:3828|EFO:1000867|MESH:D000238|UMLS:C0001432|NCIT:C2857|ICDO:8270/0 owl:Class HGNC:11273 biolink:NamedThing SPTAN1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045656 biolink:NamedThing negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of monocyte differentiation|inhibition of monocyte differentiation|down regulation of monocyte differentiation|down-regulation of monocyte differentiation owl:Class MONDO:0032814 biolink:NamedThing microangiopathy and leukoencephalopathy, pontine, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT|Dementia, Hereditary Multi-Infarct, Swedish Type|PADMAL OMIM:618564 owl:Class MONDO:0002888 biolink:NamedThing intraorbital meningioma A meningioma that affects the intraorbital structures. tmpak2llvmy_mondo_relaxed.owl intraorbital meningioma UMLS:C1334261|NCIT:C6778|DOID:4141 owl:Class HGNC:20862 biolink:NamedThing SLC39A8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020548 biolink:NamedThing ocular pemphigoid Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. tmpak2llvmy_mondo_relaxed.owl MedDRA:10067776|ICD10:H13.3*|Orphanet:99922|ICD10:L12+|SCTID:34250006 owl:Class MONDO:0008358 biolink:NamedThing radial ray hypoplasia-choanal atresia syndrome Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. tmpak2llvmy_mondo_relaxed.owl radial ray hypoplasia choanal atresia|radial ray hypoplasia and choanal atresia|radial RAY hypoplasia with choanal atresia|Goldblatt-Viljoen syndrome GARD:0004627|SCTID:232373003|Orphanet:3026|OMIM:179270 owl:Class HGNC:6483 biolink:NamedThing LAMA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010556 biolink:NamedThing X-linked chondrodysplasia punctata X-linked form of chondrodysplasia punctata. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia punctata, X-linked|CPXD|chondrodystrophia calcificans congenita|chondrodysplasia punctata, X-linked dominant|X-linked dominant chondrodysplasia punctata UMLS:C0263627|DOID:0060292|ICD10:Q77.3 owl:Class MONDO:0011397 biolink:NamedThing autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. tmpak2llvmy_mondo_relaxed.owl ADCADN|ADCA-DN syndrome|autosomal dominant cerebellar ataxia, deafness and narcolepsy|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|ADCA-DN|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome OMIM:604121|UMLS:CN203753|Orphanet:314404|DOID:0050968|GARD:0012372 https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy owl:Class MONDO:0033203 biolink:NamedThing nephrotic syndrome 14 tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 14|NPHS14|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency|nephrotic syndrome 14 OMIM:617575|Orphanet:506334|DOID:0080265|UMLS:CN339707 owl:Class MONDO:0003737 biolink:NamedThing malignant testicular Leydig cell tumor A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl testicular Leydig cell tumor, malignant NCIT:C39942|UMLS:C1515288|DOID:6021 owl:Class MONDO:0003124 biolink:NamedThing testicular Leydig cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. tmpak2llvmy_mondo_relaxed.owl Leydig cell tumor of testis|testis Leydig cell tumor|testicular Leydig cell tumor|testicular Leydig cell neoplasm|Leydig cell neoplasm of the testis|Leydig cell neoplasm of testis|Leydig cell tumor of the testis DOID:4756|EFO:1000569|SCTID:67871000119105|UMLS:C0863027|NCIT:C6356 owl:Class UBERON:0010388 biolink:NamedThing proximal segment of rib The segment of the rib that connects to a vertebra[MP]. a small part of the rib composed of the head, neck, tuberculum and a short proximal part of the body[PMID] tmpak2llvmy_mondo_relaxed.owl costal part of rib|proximal rib segment|proximal rib|vertebral part of rib|proximal part of rib owl:Class HP:0000598 biolink:NamedThing Abnormality of the ear An abnormality of the ear. tmpak2llvmy_mondo_relaxed.owl Abnormality of the ear|Ear anomaly SNOMEDCT_US:275259005|UMLS:C0266589 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. human_phenotype owl:Class MONDO:0013931 biolink:NamedThing peroxisome biogenesis disorder 4B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 4B|PBD4B|non-classic peroxisome biogenesis disorder|peroxisome biogenesis disorder type 4B NCIT:C155755|OMIM:614863|UMLS:C3553937 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100263 biolink:NamedThing peroxisome biogenesis disorder due to PEX6 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX6 defect|PEX6 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0000249 biolink:NamedThing secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. tmpak2llvmy_mondo_relaxed.owl UMLS:C0267557|SCTID:15699003|DOID:0050129|HP:0005208 owl:Class MONDO:0001338 biolink:NamedThing acute apical periodontitis tmpak2llvmy_mondo_relaxed.owl acute apical periodontitis of pulpal origin SCTID:718053009|DOID:11693|ICD10:K04.4|ICD9:522.4|UMLS:C4084770 owl:Class MONDO:0011637 biolink:NamedThing Sener syndrome tmpak2llvmy_mondo_relaxed.owl Sener syndrome|frontonasal dysplasia and dilated Virchow-Robin spaces|polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia MESH:C537579|UMLS:C1853616|GARD:0008451|OMIM:606156 https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome owl:Class MONDO:0012739 biolink:NamedThing microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. tmpak2llvmy_mondo_relaxed.owl microtia eye coloboma and imperforation of the nasolacrimal duct|Balikova-Vermeesch syndrome|microtia with nasolacrimal duct imperforation and eye coloboma Orphanet:139450|MESH:C567512|GARD:0010300|ICD10:Q15.8|OMIM:611863|UMLS:C2678482 owl:Class HGNC:10898 biolink:NamedThing SKIV2L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012483 biolink:NamedThing serosa of cloaca A serous membrane that is part of a cloaca [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl visceral peritoneum of cloaca|cloacal serosa|serous membrane of cloaca|cloaca serosa|cloaca serous membrane owl:Class MONDO:0006007 biolink:NamedThing vesicoureteral reflux Abnormal flow of urine from the urinary bladder back into the ureters. tmpak2llvmy_mondo_relaxed.owl vesico-ureteral reflux|vesicoureteral reflux|vesicoureteral reflux (disease) vesicoureteral reflux (disease) HP:0000076|ICD10:N13.70|MESH:D014718|EFO:0007536|DOID:9620|SCTID:197811007|ICD10:N13.7|ICD9:593.7|UMLS:C0042580 owl:Class CHEBI:38295 biolink:NamedThing azabicycloalkane tmpak2llvmy_mondo_relaxed.owl azabicycloalkanes owl:Class MONDO:0004803 biolink:NamedThing disseminated eosinophilic collagen disease tmpak2llvmy_mondo_relaxed.owl DOID:9499|UMLS:C0263662|SCTID:423486005|ICD9:710.8 owl:Class MONDO:0020050 biolink:NamedThing autosomal trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. tmpak2llvmy_mondo_relaxed.owl trisomy|autosomal duplication|chromosomal triplication Orphanet:98130|GARD:0006065|SCTID:429442006|ICD9:758.5|UMLS:C1996945 owl:Class UBERON:0002079 biolink:NamedThing left cardiac atrium A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve. tmpak2llvmy_mondo_relaxed.owl left cardiac atrium|atrium sinistrum|left atrium|left atrium of heart|heart left atrium|cardiac left atrium owl:Class MONDO:0004573 biolink:NamedThing ariboflavinosis A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl riboflavin deficiency|vitamin B2 deficiency OMIM:615026|ICD10:E53.0|ICD9:266.0|SCTID:20307000|DOID:8454 owl:Class MONDO:0003495 biolink:NamedThing ovarian squamous cell neoplasm A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. tmpak2llvmy_mondo_relaxed.owl ovary squamous cell neoplasm|ovarian squamous cell neoplasm|ovarian squamous cell tumor UMLS:C1518739|NCIT:C40092|DOID:5532 owl:Class NBO:0000170 biolink:NamedThing memory behavior "Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl memory behaviour owl:Class NBO:0000006 biolink:NamedThing learning and/or memory behavior "Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic] tmpak2llvmy_mondo_relaxed.owl learning and/or memory behaviour owl:Class MONDO:0020805 biolink:NamedThing benign basal cell neoplasm A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl benign basal cell tumor NCIT:C4743 owl:Class MONDO:0013883 biolink:NamedThing congenital myasthenic syndrome 13 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. tmpak2llvmy_mondo_relaxed.owl CMSTA2|CMS13|congenital myasthenic syndrome type 13|DPAGT1 congenital myasthenic syndromes with glycosylation defect|myasthenic syndrome, congenital, 13|congenital myasthenic syndrome with tubular aggregates 2|congenital myasthenic syndrome 13 with tubular aggregates|myasthenic syndrome, congenital, type 13|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|myasthenic syndrome, congenital, with tubular aggregates 2 DOID:0110676|OMIM:614750|UMLS:C3553645 owl:Class MONDO:0033010 biolink:NamedThing erythrokeratodermia variabilis et progressiva 1 tmpak2llvmy_mondo_relaxed.owl erythrokeratodermia Figurata, congenital familial, in plaques|erythrokeratodermia variabilis|EKVP1|Greither disease|erythrokeratodermia variabilis ET progressiva 1|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia, progressive symmetric|keratosis palmoplantaris transgrediens Et progrediens DOID:0111195|OMIM:133200 owl:Class MONDO:0018318 biolink:NamedThing disorder of asparagine metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:CN227320|Orphanet:391381 owl:Class NCBITaxon:27994 biolink:NamedThing Theileriidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5863 biolink:NamedThing Piroplasmida tmpak2llvmy_mondo_relaxed.owl Piroplasmids GC_ID:1 ncbi_taxonomy owl:Class CHEBI:23018 biolink:NamedThing EC 4.2.1.1 (carbonic anhydrase) inhibitor An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule. tmpak2llvmy_mondo_relaxed.owl carbonic anhydrase inhibitor|carboxyanhydrase inhibitor|carbonate dehydratase inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors|carbonate anhydrase inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase A inhibitor|carbonate hydro-lyase inhibitor|carbonate anhydrase inhibitors|carbonic anhydrase A inhibitors|carbonic acid anhydrase inhibitors|EC 4.2.1.1 inhibitors|EC 4.2.1.1 inhibitor|carbonate dehydratase inhibitor|carboxyanhydrase inhibitors|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitor|carbonic anhydrase inhibitors|carbonic acid anhydrase inhibitor|anhydrase inhibitors|carbonate hydro-lyase inhibitors|anhydrase inhibitor owl:Class CHEBI:76907 biolink:NamedThing EC 4.2.1.* (hydro-lyases) inhibitor An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*). tmpak2llvmy_mondo_relaxed.owl hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* inhibitors|EC 4.2.1.* inhibitor|EC 4.2.1.* (hydro-lyases) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|hydro-lyase (EC 4.2.1.*) inhibitor owl:Class MONDO:0003806 biolink:NamedThing thyroid hyalinizing trabecular adenoma A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. tmpak2llvmy_mondo_relaxed.owl thyroid hyalinizing trabecular adenoma|HTAT|hyalinizing trabecular tumor|hyalinizing trabecular adenoma of thyroid|hyalinizing trabecular adenoma of the thyroid|paraganglioma-like adenoma|PLAT|thyroid gland hyalinizing trabecular tumor ONCOTREE:HTAT|NCIT:C6846|ICDO:8336/0|DOID:6203|UMLS:C1336751|EFO:1000588 owl:Class MONDO:0011010 biolink:NamedThing Matthew-Wood syndrome Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. tmpak2llvmy_mondo_relaxed.owl microphthalmia syndromic type 9|microphthalmia, syndromic type 9|microphthalmia, isolated, with coloboma 8|MCOPS9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|Matthew-Wood syndrome|anophthalmia/microphthalmia and pulmonary hypoplasia|microphthalmia syndromic 9|anophthalmia-pulmonary hypoplasia syndrome|Matthew Wood syndrome|microphthalmia, syndromic 9|pulmonary agenesis microphthalmi and diaphragmatic defect|syndromic microphthalmia type 9|spear syndrome|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm DOID:0050819|GARD:0000713|OMIM:601186|MESH:C537768|ICD10:Q11.2|SCTID:722458000|UMLS:C1832661|Orphanet:2470 owl:Class MONDO:0005506 biolink:NamedThing eccrine sweat gland cancer An cancer with eccrine differentiation arising from the sweat glands.B tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of eccrine sweat gland|malignant eccrine neoplasm of skin|malignant eccrine tumor|malignant eccrine neoplasm of the skin|malignant eccrine tumor of skin|malignant eccrine skin tumor|malignant eccrine tumor of the skin|malignant eccrine neoplasm|cancer of eccrine sweat gland|malignant eccrine sweat gland neoplasm|eccrine sweat gland cancer|malignant eccrine skin neoplasm NCIT:C5559|EFO:0005553|DOID:4921|UMLS:C1334577 owl:Class MONDO:0005993 biolink:NamedThing Trichomonas vaginitis urogenital infection A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. tmpak2llvmy_mondo_relaxed.owl Trichomonas vaginalis caused disease of genitourinary system|urogenital Trichomonas|Trichomonas vaginalis trichomoniasis|urogenital trichomoniasis|urogenital infection by Trichomonas vaginalis|urogenital infection caused by Trichomonas vaginalis|Trichomonas vaginitis|Trichomonas vaginalis disease of genitourinary system ICD9:131.09|ICD10:A59.0|MESH:D014247|ICD10:A59.00|ICD9:131.00|EFO:0007521|DOID:0050269|NCIT:C35083|SCTID:35089004 owl:Class MONDO:0005674 biolink:NamedThing bone giant cell tumor A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. tmpak2llvmy_mondo_relaxed.owl giant cell myeloma|giant cell tumor of the bone|giant cell tumor of bone (morphologic abnormality)|giant cell tumor of bone NOS (morphologic abnormality)|Osteoclastoma, benign|osteoclastoma|benign bone giant cell tumor|giant cell neoplasm of bone|giant cell tumor of bone|GCT of bone|giant cell tumor, benign DOID:4305|HP:0011847|GARD:0013046|Orphanet:363976|ONCOTREE:GCTB|UMLS:C0206638|NCIT:C121932|MESH:D018212|ICD10:D48.0|EFO:0007176|SCTID:697970009 MONDO:0018219 owl:Class MONDO:0019484 biolink:NamedThing hypothalamic hamartomas with gelastic seizures Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. tmpak2llvmy_mondo_relaxed.owl ICD10:G40.5|Orphanet:86906 owl:Class UBERON:0035480 biolink:NamedThing surface of prostate The external portion of the prostate including the anterior, inferolateral, lateral and posterior surfaces. tmpak2llvmy_mondo_relaxed.owl surface of prostate gland|prostatic surface owl:Class HGNC:17928 biolink:NamedThing PSMC3IP tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051463 biolink:NamedThing negative regulation of cortisol secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. tmpak2llvmy_mondo_relaxed.owl down-regulation of cortisol secretion|downregulation of cortisol secretion|down regulation of cortisol secretion|inhibition of cortisol secretion owl:Class MONDO:0017050 biolink:NamedThing intraocular medulloepithelioma Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. tmpak2llvmy_mondo_relaxed.owl orbital medulloepithelioma|intraocular medulloepithelioma UMLS:CN202409|UMLS:C1883694|NCIT:C66806|Orphanet:268139 owl:Class MONDO:0100212 biolink:NamedThing IFAP syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:308205 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009509 biolink:NamedThing Landau-Kleffner syndrome Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. tmpak2llvmy_mondo_relaxed.owl Landau-Kleffner syndrome|FESD|acquired epileptic aphasia|aphasia, acquired, with epilepsy|LKS|Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|benign epilepsy of childhood with centrotemporal spikes|epilepsy, focal, with speech disorder and with or without intellectual disability|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|acquired epileptiform aphasia|acquired aphasia with convulsive disorder|epilepsy, focal, with speech disorder and with or without mental retardation|continuous Spike and waves during slow-Wave sleep syndrome SCTID:230438007|NCIT:C84806|MESH:D018887|OMIM:245570|MedDRA:10052083|UMLS:C0282512|EFO:1001010|ICD10:G40.8|DOID:2538|MedDRA:10052075|Orphanet:98818|GARD:0006855 https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome owl:Class CL:0009038 biolink:NamedThing colon macrophage A macrophage that is located in the colon. tmpak2llvmy_mondo_relaxed.owl macrophage of colon owl:Class MONDO:0032842 biolink:NamedThing siddiqi syndrome tmpak2llvmy_mondo_relaxed.owl Deafness, Dystonia, Developmental Delay, and Poor Growth|SIDDIS|SIDDIQI SYNDROME OMIM:618635 owl:Class MONDO:0010568 biolink:NamedThing Aicardi syndrome Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. tmpak2llvmy_mondo_relaxed.owl agenesis of corpus callosum with chorioretinal abnormality|AIC|Aicardi syndrome|corpus callosum agenesis of with chorioretinal abnormality|corpus callosum, agenesis of, with chorioretinal Abnormality NCIT:C35256|DOID:8461|ICD10:Q04.0|OMIM:304050|MedDRA:10054935|MESH:D058540|SCTID:80651009|GARD:0005764|UMLS:C0175713|Orphanet:50 https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome owl:Class MONDO:0016068 biolink:NamedThing fibrochondrogenesis Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. tmpak2llvmy_mondo_relaxed.owl GARD:0002321|ICD10:Q77.7|SCTID:17144009|Orphanet:2021|DOID:0060465|MESH:C562524|OMIMPS:228520 https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis owl:Class GO:0019693 biolink:NamedThing ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. tmpak2llvmy_mondo_relaxed.owl ribose phosphate metabolism owl:Class NCBITaxon:5653 biolink:NamedThing Kinetoplastea tmpak2llvmy_mondo_relaxed.owl kinetoplasts|kinetoplastids|Kinetoplastida|Protomonadida GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33682 biolink:NamedThing Euglenozoa tmpak2llvmy_mondo_relaxed.owl Euglenozoans GC_ID:1 ncbi_taxonomy owl:Class HP:0100497 biolink:NamedThing Vitamin B3 deficiency tmpak2llvmy_mondo_relaxed.owl Vitamin B3 deficiency MSH:D010383|SNOMEDCT_US:418279001|UMLS:C0030783|SNOMEDCT_US:418186002 doelkens 2010-12-17T04:14:51Z human_phenotype owl:Class HP:0100496 biolink:NamedThing Abnormality of the vitamin B3 metabolism tmpak2llvmy_mondo_relaxed.owl Abnormality of the vitamin B3 metabolism UMLS:C4022040 Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. doelkens 2010-12-17T04:13:00Z human_phenotype owl:Class MONDO:0008376 biolink:NamedThing retinal venous beading tmpak2llvmy_mondo_relaxed.owl retinal venous beading OMIM:180080 owl:Class GO:1903020 biolink:NamedThing positive regulation of glycoprotein metabolic process Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. tmpak2llvmy_mondo_relaxed.owl up-regulation of glycoprotein metabolism|upregulation of glycoprotein metabolic process|upregulation of glycoprotein metabolism|activation of glycoprotein metabolism|positive regulation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|up regulation of glycoprotein metabolism|activation of glycoprotein metabolic process|up-regulation of glycoprotein metabolic process owl:Class MONDO:0013619 biolink:NamedThing nephrotic syndrome, type 6 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 6|NPHS6|nephrotic syndrome caused by mutation in PTPRO|PTPRO nephrotic syndrome DOID:0080384|UMLS:C3280100|OMIM:614196 owl:Class MONDO:0008425 biolink:NamedThing omphalocele syndrome, Shprintzen-Goldberg type Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. tmpak2llvmy_mondo_relaxed.owl pharynx and larynx hypoplasia with omphalocele|Shprintzen omphalocele syndrome|laryngeal and pharyngeal hypoplasia with omphalocele|omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|Shprintzen-Goldberg omphalocele syndrome UMLS:C1866958|MESH:C537329|OMIM:182210|Orphanet:3164|SCTID:716230005|GARD:0009850|ICD10:Q79.2 owl:Class MONDO:0003403 biolink:NamedThing testicular non-seminomatous germ cell cancer A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. tmpak2llvmy_mondo_relaxed.owl malignant non-seminomatous germ cell cancer of testis|malignant testicular non-seminomatous germ cell tumor|testicular non-seminomatous germ cell tumor, malignant|malignant non-seminomatous germ cell cancer of the testis|malignant non-seminomatous germ cell tumor of testis|malignant testicular non-seminomatous germ cell neoplasm|malignant non-seminomatous germ cell neoplasm of the testis|malignant non-seminomatous germ cell neoplasm of testis|testicular germ cell tumor non-seminomatous, malignant|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell tumor of the testis|testicular non-seminomatous germ cell cancer NCIT:C5027|DOID:5345|UMLS:C1334625 Editor note: TODO owldef owl:Class MONDO:0008904 biolink:NamedThing camptomelic syndrome, long-limb type tmpak2llvmy_mondo_relaxed.owl campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type|camptomelic syndrome, long-limb type UMLS:C1859354|MESH:C537977|OMIM:211990|GARD:0001071 https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type owl:Class MONDO:0007027 biolink:NamedThing non-alcoholic steatohepatitis Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. tmpak2llvmy_mondo_relaxed.owl nash - nonalcoholic Steatohepatitis|nonalcoholic Steatohepatitis EFO:1001249|ICD10:K75.81|MedDRA:10053219|DOID:0080547|NCIT:C84445 owl:Class CHEBI:33229 biolink:NamedThing vitamin A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. tmpak2llvmy_mondo_relaxed.owl vitamina|vitamine|vitaminum|Vitamin|vitamines|vitaminas|vitamins owl:Class MONDO:0020422 biolink:NamedThing aortopulmonary coronary arterial course Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise. tmpak2llvmy_mondo_relaxed.owl Orphanet:99086|ICD10:Q24.5 owl:Class GO:0031337 biolink:NamedThing positive regulation of sulfur amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpak2llvmy_mondo_relaxed.owl stimulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|upregulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism owl:Class HGNC:18124 biolink:NamedThing P2RY12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008382 biolink:NamedThing retinoschisis, autosomal dominant Autosomal dominant form of retinoschisis. tmpak2llvmy_mondo_relaxed.owl retinoschisis autosomal dominant|retinoschisis, autosomal dominant|autosomal dominant retinoschisis UMLS:C1867235|MESH:C000598640|OMIM:180270|GARD:0009144 https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant owl:Class MONDO:0004579 biolink:NamedThing retinoschisis An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. tmpak2llvmy_mondo_relaxed.owl SCTID:44268007|ICD10:H33.10|UMLS:C0152439|DOID:8465|MESH:D041441|ICD9:361.10|NCIT:C85046 owl:Class UBERON:0035240 biolink:NamedThing posterior wall of oropharynx tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007937 biolink:NamedThing renal hypomagnesemia 2 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. tmpak2llvmy_mondo_relaxed.owl magnesium loss, isolated renal|magnesium wasting, renal|HOMG2|autosomal dominant primary hypomagnesemia with hypocalciuria|FXYD2 familial primary hypomagnesemia|primary hypomagnesemia caused by mutation in FXYD2|isolated autosomal dominant hypomagnesemia|isolated renal magnesium wasting|hypomagnesemia 2, renal|renal hypomagnesemia type 2|familial primary hypomagnesemia caused by mutation in FXYD2|FXYD2 primary hypomagnesemia ICD10:E83.4|SCTID:725393000|UMLS:C4511005|MESH:C537152|UMLS:C1835171|GARD:0003350|Orphanet:34528|OMIM:154020|DOID:0060885 https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 owl:Class NCBITaxon:6685 biolink:NamedThing Penaeidae tmpak2llvmy_mondo_relaxed.owl penaeid shrimps GC_ID:1 ncbi_taxonomy owl:Class HGNC:10896 biolink:NamedThing SKI tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012299 biolink:NamedThing mucosa of urethra A mucosa that is part of a urethra. tmpak2llvmy_mondo_relaxed.owl tunica mucosa urethrae|mucous membrane of urethra|urethral mucosa owl:Class MONDO:0019441 biolink:NamedThing ATTRV122I amyloidosis Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. tmpak2llvmy_mondo_relaxed.owl transthyretin amyloid cardiopathy|TTR-related amyloid cardiomyopathy|ATTR cardiomyopathy|TTR-related cardiac amyloidosis|ATTRV122I-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy SCTID:715655000|ICD10:E85.4+|ICD10:I43.1*|Orphanet:85451 owl:Class MONDO:0007100 biolink:NamedThing familial amyloid neuropathy Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. tmpak2llvmy_mondo_relaxed.owl familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|amyloid Neuropathies, familial|familial transthyretin amyloidosis|ATTRV30M amyloidosis|familial amyloid polyneuropathy type I|TTR amyloid neuropathy|transthyretin-related hereditary amyloidosis|paramyloidosis|TTR amyloidosis|amyloid cardiomyopathy, transthyretin-related|amyloidosis, hereditary, transthyretin-related|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|amyloid polyneuropathy, familial|transthyretin amyloid neuropathy|transthyretin amyloidosis|amyloidosis transthyretin related|ATTRV30M-related amyloidosis|familial amyloid polyneuropathy|familial amyloid neuropathy|transthyretin amyloid polyneuropathy|hereditary amyloidosis, transthyretin-related|amyloidosis, leptomeningeal, transthyretin-related|Corino de Andrade's disease ICD9:277.39|DOID:0050638|GARD:0000656|ICD10:G63.3*|DOID:0050761|MESH:C567782|UMLS:C2751492|NCIT:C84554|SCTID:42295001|UMLS:C0206245|Orphanet:85447|EFO:0004129|ICD10:E85.1+|OMIM:105210 owl:Class GO:0008654 biolink:NamedThing phospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. tmpak2llvmy_mondo_relaxed.owl phospholipid formation|phospholipid anabolism|phospholipid synthesis|phospholipid biosynthesis owl:Class MONDO:0018647 biolink:NamedThing secondary sclerosing cholangitis tmpak2llvmy_mondo_relaxed.owl ICD10:K83.0|SCTID:197442005|Orphanet:447774|UMLS:C0400978 owl:Class ENVO:00000111 biolink:NamedThing forested area An area with a high density of trees. A small forest may be called a wood. tmpak2llvmy_mondo_relaxed.owl forest|wood owl:Class ENVO:00000109 biolink:NamedThing woodland area Land having a cover of trees, shrubs, or both. tmpak2llvmy_mondo_relaxed.owl tropical rain forest|mulga scrub|garique|coniferous forest|mott|motte|thicket|silva|scrub|equatorial rain forest|sagebrush|stand|caatinga|deciduous forest|copse|grove|taiga|jungle|mulga|moor|equatorial forest|reforested area|rain forest|monsoon forest|thorn forest|pine grove|brigalow|mallee scrub|wood|shrub|wooded area|chanaral owl:Class MONDO:0018847 biolink:NamedThing omphalomesenteric cyst tmpak2llvmy_mondo_relaxed.owl Orphanet:490|GARD:0004081|ICD10:Q43.0|SCTID:80880002 https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst owl:Class MONDO:0015215 biolink:NamedThing non-syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated diaphragmatic or abdominal wall malformation|nonsyndromic diaphragmatic or abdominal wall malformation Orphanet:108977 owl:Class MONDO:0010867 biolink:NamedThing PARC syndrome PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. tmpak2llvmy_mondo_relaxed.owl poikiloderma-alopecia-retrognathism-cleft palate syndrome|poikiloderma, alopecia, retrognathism, and cleft palate|PARC syndrome GARD:0004223|OMIM:600331|ICD10:Q87.8|MESH:C537174|UMLS:C1838256|Orphanet:2825 https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome owl:Class MONDO:0004667 biolink:NamedThing sublingual gland cancer A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the sublingual gland|sublingual gland cancer|malignant tumor of sublingual gland|malignant sublingual gland tumor|malignant neoplasm of sublingual gland|malignant tumor of the sublingual gland|cancer of sublingual gland|malignant sublingual gland neoplasm SCTID:363381003|ICD10:C08.1|ICD9:142.2|UMLS:C0153361|NCIT:C3527|DOID:8849 owl:Class MONDO:0005929 biolink:NamedThing postpartum depression A type of clinical depression that occurs after childbirth. tmpak2llvmy_mondo_relaxed.owl depression, post-Natal|depression, postnatal|post partum depression|post-Natal depression|post Natal depression|postpartum depression|depressive episode with postpartum onset|major depressive episode with peripartum onset|postnatal depression|maternity blues|post-partum depression|depression, post-partum ICD10:F53|DOID:9478|NCIT:C92852|EFO:0007453|SCTID:279225001|MESH:D019052 owl:Class HP:0003121 biolink:NamedThing Limb joint contracture A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. tmpak2llvmy_mondo_relaxed.owl Limb contractures UMLS:C1969879 HP:0005839|HP:0005631 human_phenotype owl:Class MONDO:0016654 biolink:NamedThing ring chromosome 5 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). tmpak2llvmy_mondo_relaxed.owl R5|Ring chromosome 5 syndrome|chromosome 5 ring|Ring 5|Ring chromosome type 5|rose cluster 5 GARD:0010841|NCIT:C121984|Orphanet:251043|UMLS:C4050064|ICD10:Q93.2|SCTID:765487008 https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5 owl:Class UBERON:0015788 biolink:NamedThing olfactory apparatus chamber An anatomical chamber that is part of the olfactory apparatus, consisting of cavity walls (nasal epithelium and mucosal layers) and the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015787 biolink:NamedThing upper respiratory conduit Any anatomical conduit which is part of the upper respiratory tract tmpak2llvmy_mondo_relaxed.owl respiratory conduit owl:Class MONDO:0014687 biolink:NamedThing retinitis pigmentosa 73 Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. tmpak2llvmy_mondo_relaxed.owl HGSNAT retinitis pigmentosa|retinitis pigmentosa type 73|retinitis pigmentosa 73|RP73|retinitis pigmentosa caused by mutation in HGSNAT OMIM:616544|UMLS:C4225287|ICD10:H35.5|DOID:0110389 owl:Class MONDO:0006481 biolink:NamedThing ureter carcinoma A carcinoma that arises from epithelial cells of the ureter. tmpak2llvmy_mondo_relaxed.owl ureteral carcinoma|ureter cancer|carcinoma of ureter|carcinoma of the ureter|ureter carcinoma NCIT:C8993|DOID:4939|SCTID:448864006|UMLS:C0600079|EFO:1000609 owl:Class SO:0000988 biolink:NamedThing circular A quality of a nucleotide polymer that has no terminal nucleotide residues. tmpak2llvmy_mondo_relaxed.owl zero-ended owl:Class SO:0000986 biolink:NamedThing topology_attribute The attribute of whether a nucleotide polymer is linear or circular. tmpak2llvmy_mondo_relaxed.owl topology attribute owl:Class MONDO:0003859 biolink:NamedThing bilateral meningioma of optic nerve Meningiomas that affects both optic nerves. tmpak2llvmy_mondo_relaxed.owl bilateral meningioma of the optic nerve|bilateral optic nerve meningioma DOID:6335|NCIT:C5304|UMLS:C1332551 owl:Class MONDO:0009240 biolink:NamedThing formiminoglutamic aciduria Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. tmpak2llvmy_mondo_relaxed.owl Arakawa syndrome 1|formiminoglutamic aciduria|formiminotransferase cyclodeaminase deficiency|formiminotransferase deficiency|FTCD deficiency|formiminotransferase deficiency syndrome|glutamate formiminotransferase deficiency|Formiminoglutamicaciduria (FIGLU-Uria)|Figlu-Uria|formiminoglutamic acidemia SCTID:59761008|MESH:C537425|GARD:0009279|UMLS:C0268609|Orphanet:51208|ICD10:E70.8|OMIM:229100|ICD9:270.8|DOID:0111679 owl:Class MONDO:0003622 biolink:NamedThing pancreatic vasoactive intestinal peptide producing tumor A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. tmpak2llvmy_mondo_relaxed.owl pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing NET|pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing neoplasm|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP producing tumor NCIT:C27454|UMLS:C2033037|DOID:5741 owl:Class MONDO:0019960 biolink:NamedThing VIPoma VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). tmpak2llvmy_mondo_relaxed.owl vasoactive intestinal peptide (VIP) tumor|malignant vasoactive intestinal peptide-secreting tumor|VIP-producing NET|vasoactive intestinal peptide-secreting tumor|Diarrheogenic islet cell tumor|pancreatic vipoma|watery diarrhea-hypokalemia-achlorhydria syndrome|VIP- secreting neoplasm|VIP- secreting tumor|vasoactive intestinal peptide producing tumor|vasoactive intestinal peptide secreting neoplasm|vasoactive intestinal peptide-producing tumor|Verner-Morrison syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|WDHA syndrome|VIP-secreting tumor|vasoactive intestinal peptide producing neoplasm|VIPoma, malignant|pancreatic cholera|VIP-producing neuroendocrine tumor|VIP producing neoplasm|VIPoma Orphanet:97282|ICDO:8155/1|ICD10:E16.8|SCTID:253005002|NCIT:C26749|GARD:0005493|DOID:5574|ICD9:239.7|GARD:0003787|EFO:1000622|MedDRA:10047430|MESH:D003969|UMLS:C0011993 owl:Class HGNC:6243 biolink:NamedThing KCNE3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017719 biolink:NamedThing gangliosidosis A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. tmpak2llvmy_mondo_relaxed.owl ICD10:E75.10|GARD:0012510|ICD10:E75.1|Orphanet:309144|UMLS:C0017083|SCTID:50967008|DOID:2368|ICD10:E75.0 owl:Class HGNC:6913 biolink:NamedThing MAX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015874 biolink:NamedThing benign ductal tumor of breast tmpak2llvmy_mondo_relaxed.owl Orphanet:180284|ICD10:D24|UMLS:CN200479 owl:Class GO:2000830 biolink:NamedThing positive regulation of parathyroid hormone secretion Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl positive regulation of parathormone secretion|positive regulation of PTH secretion|positive regulation of parathyrin secretion owl:Class MONDO:0015295 biolink:NamedThing intractable diarrhea-choanal atresia-eye anomalies syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226653|ICD10:Q87.8|Orphanet:137622 owl:Class MONDO:0003368 biolink:NamedThing prostate leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl prostate gland leiomyosarcoma|prostate leiomyosarcoma|leiomyosarcoma of the prostate|leiomyosarcoma of prostate|leiomyosarcoma of prostate gland DOID:5282|NCIT:C5526|UMLS:C1335511 owl:Class MONDO:0044782 biolink:NamedThing esophageal ulcer An ulcerated lesion in the esophageal wall. tmpak2llvmy_mondo_relaxed.owl esophagus ulcer disease|esophageal ulcer|ulcer disease of esophagus|esophagus ulcer NCIT:C26950|HP:0004791 owl:Class MONDO:0042726 biolink:NamedThing macrogyria, pseudobulbar palsy and intellectual disability tmpak2llvmy_mondo_relaxed.owl Kuzniecky Andermann syndrome GARD:0000174|MESH:C537722|UMLS:C2931598 owl:Class MONDO:0010146 biolink:NamedThing Kerion celsi A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. tmpak2llvmy_mondo_relaxed.owl susceptibility to Tinea imbricata|Tinea capitis profunda|TINEA imbricata, susceptibility to|trichophytia profunda barbae|trichophytia profunda capitis|Trichophyton infection UMLS:C0276742|GARD:0003109|ICD10:B35.0|Orphanet:499|SCTID:19087001|OMIM:275240 https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi owl:Class MONDO:0014023 biolink:NamedThing congenital muscular dystrophy with intellectual disability and severe epilepsy tmpak2llvmy_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type Iu|DPM2-CDG|congenital disorder of glycosylation, type Iu|congenital disorder of glycosylation type Iu|CDG1U|CDG Iu|CMD with intellectual disability and severe epilepsy|CDG syndrome type Iu|congenital disorder of glycosylation type 1u|CDG-Iu Orphanet:329178|DOID:0080571|UMLS:C3554385|GARD:0012416|OMIM:615042|ICD10:E77.8 owl:Class CL:0002145 biolink:NamedThing ciliated columnar cell of tracheobronchial tree A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. tmpak2llvmy_mondo_relaxed.owl FMA:70542 tmeehan 2010-08-24T03:38:29Z cell owl:Class OBO:MF_0000075 biolink:NamedThing mental quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MF_0000074 biolink:NamedThing bodily quality A bodily quality is a quality that inheres in some extended organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009101 biolink:NamedThing Wolfram syndrome 1 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. tmpak2llvmy_mondo_relaxed.owl WOLFRAM syndrome 1|diabetes insipidus and mellitus with optic atrophy and deafness|Wfs|WFS1 Wolfram syndrome|Wolfram syndrome type 1|WFS1|Wolfram syndrome caused by mutation in WFS1|Wolfram syndrome 1 DOID:0110629|ICD10:E13.8|OMIM:222300 owl:Class MONDO:0002490 biolink:NamedThing breast sarcoma A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. tmpak2llvmy_mondo_relaxed.owl breast sarcoma|sarcoma of breast|PBS|sarcoma of the breast SCTID:278050001|DOID:3017|UMLS:C0349667|NCIT:C4670|ONCOTREE:PBS owl:Class GO:0070469 biolink:NamedThing respirasome The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpak2llvmy_mondo_relaxed.owl respiratory chain|membrane electron transport chain owl:Class MONDO:0005939 biolink:NamedThing Reoviridae infectious disease Infections produced by reoviruses, general or unspecified. tmpak2llvmy_mondo_relaxed.owl infection, Reoviridae|Reovirus infection|Reoviridae infection|infections, Reovirus|infections, Reoviridae|infection, Reovirus|Reovirus infections UMLS:C0035112|EFO:0007464|MESH:D012088 owl:Class CL:0002592 biolink:NamedThing smooth muscle cell of the coronary artery A smooth muscle cell of the coronary artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:34Z cell owl:Class MONDO:0008325 biolink:NamedThing Pseudoatrophoderma colli tmpak2llvmy_mondo_relaxed.owl Pseudoatrophoderma colli UMLS:C0406561|MESH:C562909|SCTID:238840009|OMIM:177350 owl:Class UBERON:0004141 biolink:NamedThing heart tube An epithelial tube that will give rise to the mature heart. tmpak2llvmy_mondo_relaxed.owl endocardial tube|embryonic heart tube|endocardial heart tube owl:Class MONDO:0017553 biolink:NamedThing humero-ulnar synostosis, bilateral tmpak2llvmy_mondo_relaxed.owl humero-ulnar fusion, bilateral ICD10:Q74.0|Orphanet:295215 owl:Class MONDO:0006343 biolink:NamedThing ovarian transitional cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. tmpak2llvmy_mondo_relaxed.owl malignant ovarian transitional cell neoplasm|transitional cell carcinoma of the ovary|ovarian transitional cell cancer|ovarian transitional cell carcinoma|ovarian transitional cell neoplasm|ovary transitional cell carcinoma|transitional cell carcinoma of ovary NCIT:C5240|DOID:4000|UMLS:C1335184|EFO:1000435 owl:Class MONDO:0025708 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 2 tmpak2llvmy_mondo_relaxed.owl MMIHS2 OMIM:619351 owl:Class MONDO:0008551 biolink:NamedThing thoracolaryngopelvic dysplasia Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. tmpak2llvmy_mondo_relaxed.owl THORACOLARYNGOPELVIC dysplasia|thoracolaryngopelvic dysplasia|THORACOPELVIC dysostosis|Barnes syndrome|autosomal dominant thoracolaryngopelvic dysplasia|TLPD GARD:0005184|UMLS:C1861197|OMIM:187760|ICD10:Q77.2|Orphanet:3317|MESH:C536517|SCTID:723556008|OMIM:187770 owl:Class MONDO:0015929 biolink:NamedThing thoracic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:182108 owl:Class MONDO:0005857 biolink:NamedThing morbillivirus infectious disease Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. tmpak2llvmy_mondo_relaxed.owl Morbillivirus disease or disorder|Morbillivirus caused disease or disorder|Morbillivirus infectious disease MESH:D018185|UMLS:C0206614|EFO:0007377 owl:Class MONDO:0026726 biolink:NamedThing nephrotic syndrome, type 20 tmpak2llvmy_mondo_relaxed.owl NPHS20|NEPHROTIC SYNDROME, TYPE 20 DOID:0070357|OMIM:301028 owl:Class MONDO:0015944 biolink:NamedThing axial mesodermal dysplasia spectrum Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. tmpak2llvmy_mondo_relaxed.owl blastogenesis defect|Russell Weaver Bull syndrome|Russell-Weaver-Bull syndrome MESH:C537790|SCTID:765755006|ICD10:Q87.8|UMLS:C2931613|Orphanet:1834|GARD:0000213 https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum owl:Class MONDO:0033650 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 15 tmpak2llvmy_mondo_relaxed.owl MC4DN15 OMIM:619059 owl:Class MONDO:0024632 biolink:NamedThing defective phagocytic cell opsonization tmpak2llvmy_mondo_relaxed.owl defective phagocytic cell opsonization SCTID:234578009|UMLS:C0398733 owl:Class HGNC:25941 biolink:NamedThing TET2 tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0009062 biolink:NamedThing gynoecium A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046). tmpak2llvmy_mondo_relaxed.owl gynoecium of upper floret of pedicellate spikelet of ear (narrow)|pistil (broad)|ginoecio (Spanish, exact)|apocarpous gynoecium (narrow)|Zea gynoecium (narrow)|gynoecium of upper floret of pedicellate spikelet of tassel (narrow)|雌蕊群 (Japanese, exact)|gynoecium of ear floret (narrow)|gynoecium of lower floret of sessile spikelet of ear (narrow)|gynoecium of upper floret of sessile spikelet of ear (narrow)|gynaecium (exact)|gynoecium of lower floret of sessile spikelet of tassel (narrow)|gynoecium of tassel floret (narrow)|gynoecium of lower floret of pedicellate spikelet of ear (narrow)|Poaceae gynoecium (narrow)|gynoecium of lower floret of pedicellate spikelet of tassel (narrow)|gynoecium of upper floret of sessile spikelet of tassel (narrow)|syncarpous gynoecium (narrow)|gynoecia (exact, plural) PO_GIT:71|PO_GIT:98|PO_GIT:470 If annotating gene expression to a gynoecium with a single carpel (PO:0009030), the annotation should go on carpel. A gynoecium with two or more carpels may be either syncarpous (carpels fused) or apopcarpous (carpels free) or the carpels may be partially fused. The word pistil is used synonymously with gynoecium for a synocarpous gynoecium, and synonymously with carpel for an apocarpous gynoecium, whether it has one or more carpels. In Zea mays, gynoecia of tassel florets and of the lower florets of ear spikelets usually do not develop fully, and they are present in a rudimentary state. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), lower floret of pedicellate spikelet of ear (PO:0006353), lower floret of sessile spikelet of ear (PO:0006351), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352), tassel floret (PO:0006310), lower floret of pedicellate spikelet of tassel (PO:0006313), lower floret of sessile spikelet of tassel (PO:0006315), upper floret of pedicellate spikelet of tassel (PO:0006314), upper floret of sessile spikelet of tassel (PO:0006316). PO:0006425|PO:0006403|PO:0006391|PO:0006365|PO:0006424|PO:0006423|PO:0006426|PO:0006357|PO:0025089|PO:0006384|PO:0006317|PO:0006394|PO:0006404 plant_anatomy owl:Class PO:0025023 biolink:NamedThing collective phyllome structure A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005). tmpak2llvmy_mondo_relaxed.owl floral whorl (narrow)|葉的器官が集まった構造 (Japanese, exact)|cycle (broad)|verticil (broad)|phyllome whorl (related)|estructura colectiva del filoma (Spanish, exact)|whorl (narrow) PO_GIT:90|PO_GIT:99 Laurel_Cooper 2010-04-28T11:04:34Z PO:0008033 plant_anatomy owl:Class MONDO:0024461 biolink:NamedThing angiomatosis A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. tmpak2llvmy_mondo_relaxed.owl angiomatosis|diffuse hemangioma|multiple hemangiomas|diffuse angiomatosis|angiomatoses MESH:D000798|SCTID:205562004|UMLS:C0002992|NCIT:C27503 Editor note: check this owl:Class ECTO:9000021 biolink:NamedThing exposure to alkali metal salt An exposure to alkali metal salt. tmpak2llvmy_mondo_relaxed.owl exposure to alkali metal salt owl:Class MONDO:0024432 biolink:NamedThing nerve plexus disease A disease that involves the nerve plexus. tmpak2llvmy_mondo_relaxed.owl disease or disorder of nerve plexus|nerve plexus disorder|nerve plexus disease|disorder of nerve plexus|nerve plexus disease or disorder|plexopathy|disease of nerve plexus SCTID:2231001|UMLS:C1335437|NCIT:C27744|DOID:3688 MONDO:0002733 owl:Class CHEBI:39142 biolink:NamedThing Bronsted base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). tmpak2llvmy_mondo_relaxed.owl accepteur d'hydron|Bronsted base|hydron acceptor|Bronsted-Base|base de Bronsted owl:Class CHEBI:22695 biolink:NamedThing base A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). tmpak2llvmy_mondo_relaxed.owl Base|Base1|Base2|Basen|bases|base|Nucleobase owl:Class MONDO:0007892 biolink:NamedThing Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. tmpak2llvmy_mondo_relaxed.owl LMHD|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|Lenz Majewski hyperostotic dwarfism|Lenz-Majewski hyperostotic dysplasia|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|Lenz-Majewski syndrome|hyperostotic dwarfism Lenz-Majewski type MESH:C537115|ICD10:Q87.1|GARD:0003223|OMIM:151050|DOID:0111507|Orphanet:2658 https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism owl:Class NCBITaxon:1314 biolink:NamedThing Streptococcus pyogenes tmpak2llvmy_mondo_relaxed.owl Micrococcus scarlatinae|Streptococcus erysipelatos|Streptococcus hemolyticus|Streptococcus scarlatinae GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008337 biolink:NamedThing familial pterygium of the conjunctiva Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. tmpak2llvmy_mondo_relaxed.owl pterygium of conjunctiva and cornea|pterygium of the conjunctiva and cornea Orphanet:2989|GARD:0004569|MESH:C566740|UMLS:C1867441|ICD10:H11.0|OMIM:178000 owl:Class MONDO:0020665 biolink:NamedThing high grade malignant neoplasm tmpak2llvmy_mondo_relaxed.owl high grade malignant neoplasm NCIT:C36046 owl:Class MONDO:0041259 biolink:NamedThing diphtheritic myocarditis An myocarditis caused by infection with Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl diphtheritic myocarditis|Corynebacterium diphtheriae caused myocarditis|Corynebacterium diphtheriae myocarditis SCTID:26117009|UMLS:C0152952 owl:Class UBERON:0002393 biolink:NamedThing pharyngotympanic tube Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA] tmpak2llvmy_mondo_relaxed.owl tuba auditoria|tuba pharyngotympanica|internal auditory tube|pharyngo-tympanic tube|auditory tube|eustachian tube|tuba auditiva; tuba auditoria; tuba auditivea|tuba auditiva owl:Class MONDO:0017021 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a connective tissue disease tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to childhood associated with a connective tissue disease 2022-03-01 UMLS:CN202334|Orphanet:264704 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0009587 biolink:NamedThing mesoaxial hexadactyly and cardiac malformation tmpak2llvmy_mondo_relaxed.owl mesoaxial hexadactyly and cardiac malformation|Mexican Cardiomelic dysplasia OMIM:249670|MESH:C563087|UMLS:C0796057 owl:Class MONDO:0001341 biolink:NamedThing selective IgA deficiency disease A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. tmpak2llvmy_mondo_relaxed.owl deficiency, IgA|selective IgA immunodeficiency|deficiencies, IgA|IgA deficiencies|selective immunoglobulin A deficiency|IgA deficiency|gamma-A-globulin deficiency|immunoglobulin alpha deficiency|immunoglobulin A deficiency SCTID:29260007|EFO:1001929|DOID:0060025|MESH:D017098|NCIT:C26964|UMLS:C4049006|UMLS:C0162538|DOID:11701 owl:Class MONDO:0001342 biolink:NamedThing dysgammaglobulinemia An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. tmpak2llvmy_mondo_relaxed.owl dysgammaglobulinemia (disease)|dysgammaglobulinemia (finding)|dysgammaglobulinemia dysgammaglobulinemia (disease) DOID:11702|SCTID:123782009|MESH:D004406|HP:0002961|UMLS:C0013374 owl:Class CHEBI:59999 biolink:NamedThing chemical substance A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. tmpak2llvmy_mondo_relaxed.owl Chemische Substanz owl:Class MONDO:0014905 biolink:NamedThing encephalopathy due to defective mitochondrial and peroxisomal fission 2 tmpak2llvmy_mondo_relaxed.owl encephalopathy due to defective mitochondrial and peroxisomal fission 2|MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect|EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission type 2|Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Orphanet:485421|UMLS:C4310726|OMIM:617086 owl:Class MONDO:0054865 biolink:NamedThing encephalopathy due to mitochondrial and peroxisomal fission defect tmpak2llvmy_mondo_relaxed.owl encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission OMIMPS:614388|Orphanet:527276 owl:Class OBO:MFOMD_0000122 biolink:NamedThing phobia A persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it. DSM-IV-TR (american Psychiatric Association) tmpak2llvmy_mondo_relaxed.owl This often leads either to avoidance of the phobic stimulus or to enduring it with dread. owl:Class MONDO:0004684 biolink:NamedThing plantar fibromatosis A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpak2llvmy_mondo_relaxed.owl plantar fibromatosis|plantar fascial fibromatosis|plantar part of pes superficial Fibromatosis|plantar part of pes superficial fibromatosis|superficial fibromatosis of plantar part of pes|Ledderhose's disease|Dupuytren's contracture of foot|superficial Fibromatosis of plantar part of pes ICD10:M72.2|SCTID:13370002|NCIT:C4680|DOID:8936|EFO:1000481|ICD9:728.71 owl:Class ECTO:9001751 biolink:NamedThing exposure to antiprotozoal drug An exposure to antiprotozoal drug. tmpak2llvmy_mondo_relaxed.owl exposure to antiprotozoal drug owl:Class ECTO:9001712 biolink:NamedThing exposure to antiparasitic agent An exposure to antiparasitic agent. tmpak2llvmy_mondo_relaxed.owl exposure to antiparasitic agent owl:Class MONDO:0043224 biolink:NamedThing multi-infarct dementia A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. tmpak2llvmy_mondo_relaxed.owl Multiinfarct dementia|Binswanger disease|dementia, lacunar|multi-infarct dementia|Dementias, Multiinfarct|arteriosclerotic dementia|Dementias, lacunar|lacunar dementia|dementia, Multiinfarct|multi infarct dementia|dementia multi-infarcts|dementia, multi infarct|multi-infarcts, dementia|Multiinfarct Dementias|multi-infarct Dementias|lacunar Dementias|dementia multi-infarct|Binswanger's disease|multi-infarct, dementia|dementia multi infarct|Dementias, multi-infarct SCTID:56267009|NCIT:C34522|MESH:D015161|GARD:0005925 owl:Class MONDO:0002679 biolink:NamedThing cerebral infarction An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. tmpak2llvmy_mondo_relaxed.owl cerebral ischemia|cerebral, infarction|telencephalon brain infarction|infarction, cerebral|brain infarction of telencephalon|CVA - cerebral infarction|cerebral infarct ICD9:433.81|DOID:3526|ICD9:433.01|ICD9:434.91|NCIT:C50486|ICD10:I63|ICD9:433.21|ICD10:I63.9|MESH:D002544|SCTID:432504007|UMLS:C0007785|ICD9:433.31 owl:Class CHEBI:36970 biolink:NamedThing vitamin B6 phosphate tmpak2llvmy_mondo_relaxed.owl vitamin B-6 phosphates|vitamin B6 phosphates owl:Class GO:0033008 biolink:NamedThing positive regulation of mast cell activation involved in immune response Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. tmpak2llvmy_mondo_relaxed.owl positive regulation of mast cell activation during immune response owl:Class MONDO:0011842 biolink:NamedThing Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. tmpak2llvmy_mondo_relaxed.owl frontotemporal dementia with Tdp43 inclusions, Grn-related|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|aphasia, primary progressive|dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive ICD10:G31.0|OMIM:607485|DOID:0060672 owl:Class MONDO:0003499 biolink:NamedThing sarcomatoid squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent spindle cell component. tmpak2llvmy_mondo_relaxed.owl spindle cell squamous carcinoma of the skin|spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell squamous cell carcinoma|spindle cell squamous carcinoma of skin|spindle cell (sarcomatoid) squamous cell carcinoma DOID:5536|UMLS:C0349656|NCIT:C4666|SCTID:254653005 owl:Class MONDO:0002529 biolink:NamedThing skin squamous cell carcinoma A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. tmpak2llvmy_mondo_relaxed.owl epidermoid carcinoma of the skin|squamous cell skin carcinoma|zone of skin squamous cell carcinoma|cutaneous squamous cell carcinoma|skin squamous cell carcinoma|CSCC|epidermoid carcinoma of skin|epidermoid skin carcinoma|squamous cell carcinoma - skin|skin squamous cell cancer|squamous cell carcinoma of the skin|squamous cell carcinoma of skin DOID:3151|ONCOTREE:CSCC|UMLS:C0553723|NCIT:C4819|EFO:1001927|SCTID:254651007 owl:Class MONDO:0012695 biolink:NamedThing Meckel syndrome, type 5 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. tmpak2llvmy_mondo_relaxed.owl Meckel syndrome, type 5|Meckel syndrome caused by mutation in RPGRIP1L|RPGRIP1L Meckel syndrome|Meckel-Gruber syndrome, type 5|MKS5|Meckel syndrome 5 OMIM:611561|ICD10:Q61.9|DOID:0070119|MESH:C566915|UMLS:C1969052 owl:Class MONDO:0033309 biolink:NamedThing Joubert syndrome 32 tmpak2llvmy_mondo_relaxed.owl JBTS32|Joubert syndrome 32 OMIM:617757|DOID:0080278|UMLS:CN596207 owl:Class MONDO:0016814 biolink:NamedThing maternally-inherited Leigh syndrome Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. tmpak2llvmy_mondo_relaxed.owl maternally-inherited infantile subacute necrotizing encephalopathy|MILS|Subacute necrotizing encephalomyelopathy maternally inherited|maternally-inherited Leigh disease|mitochondrial DNA-associated Leigh syndrome|maternally inherited Leigh syndrome|Leigh disease, maternally inherited GARD:0003671|Orphanet:255210|ICD10:G31.8|SCTID:717052002|MESH:C536035 owl:Class MONDO:0015480 biolink:NamedThing coloboma of superior eyelid Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. tmpak2llvmy_mondo_relaxed.owl superior palpebral coloboma Orphanet:155884|SCTID:763132003|ICD10:Q10.3 Editor note: TODO axioms owl:Class MONDO:0014361 biolink:NamedThing autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. tmpak2llvmy_mondo_relaxed.owl AUTS2 syndrome|MRD26|autosomal dominant non-syndromic intellectual disability 26|ASD due to AUTS2 deficiency|autism spectrum disorder due to AUTS2 deficiency|autosomal dominant mental retardation 26|mental retardation, autosomal dominant type 26|mental retardation, autosomal dominant 26|intellectual disability type 26 OMIM:615834|ICD10:F84.1|DOID:0070056|Orphanet:352490|UMLS:C4014435 owl:Class GO:0007059 biolink:NamedThing chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpak2llvmy_mondo_relaxed.owl chromosome transmission|chromosome division owl:Class HP:0006562 biolink:NamedThing Viral hepatitis Inflammation of the liver due to infection with a virus. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:3738000|UMLS:C0042721 human_phenotype owl:Class HP:0012115 biolink:NamedThing Hepatitis Inflammation of the liver. tmpak2llvmy_mondo_relaxed.owl Liver inflammation UMLS:C0019158|MSH:D006505|SNOMEDCT_US:128241005 hecht 2012-09-16T05:03:29Z human_phenotype owl:Class MONDO:0005512 biolink:NamedThing malignant peritoneal mesothelioma An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. tmpak2llvmy_mondo_relaxed.owl advanced malignant mesothelioma of peritoneum|advanced peritoneal malignant mesothelioma|peritoneal mesothelioma|diffuse malignant peritoneal mesothelioma|malignant peritoneal mesothelioma, advanced|malignant mesothelioma (disease) of peritoneum|primary malignant peritoneal mesothelioma|peritoneum malignant mesothelioma (disease)|advanced malignant peritoneal mesothelioma|advanced malignant mesothelioma of the peritoneum|peritoneal mesothelioma (disease), malignant|malignant mesothelioma of peritoneum Orphanet:168811|DOID:1788|MedDRA:10056558|NCIT:C8704|EFO:0005567|ICD10:C45.1 owl:Class MONDO:0002087 biolink:NamedThing peritoneum cancer A malignant neoplasm involving the peritoneum tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of peritoneum|peritoneal cancer|peritoneum cancer|peritoneal neoplasm|cancer of the peritoneum|peritoneal cavity cancer|malignant peritoneum neoplasm|cancer of peritoneum|malignant peritoneal neoplasm ICD9:159.8|SCTID:363492001|ICD9:158.8|NCIT:C3538|ICD9:158.9|UMLS:C0153467|ICD10:C48.1|DOID:1725 owl:Class NCBITaxon:3744 biolink:NamedThing Rosales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:3601|NCBITaxon:4266|NCBITaxon:3473 ncbi_taxonomy owl:Class NCBITaxon:91835 biolink:NamedThing fabids tmpak2llvmy_mondo_relaxed.owl eurosids I GC_ID:1 NCBITaxon:4293|NCBITaxon:41939 ncbi_taxonomy owl:Class MONDO:0009426 biolink:NamedThing hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. tmpak2llvmy_mondo_relaxed.owl hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|HRDS|hypoparathyroidism-retardation-dysmorphism syndrome|SSS|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, mental retardation, and seizures|Sanjad-Sakati syndrome|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|HRD syndrome|hypoparathyroidism with short stature, intellectual disability, and seizures|Richardson-Kirk syndrome|HRD|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism with short stature, intellectual disability and seizures UMLS:C1855840|MESH:C537157|OMIM:241410|GARD:0000411|ICD10:Q87.1|NCIT:C133727|Orphanet:2323|DOID:0060348 owl:Class MONDO:0015781 biolink:NamedThing facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. tmpak2llvmy_mondo_relaxed.owl facial dysmorphism shawl scrotum joint laxity|Seaver-Cassidy syndrome|Seaver Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies GARD:0004778|SCTID:716337006|UMLS:C2931522|MESH:C537529|ICD10:Q87.8|Orphanet:1778 owl:Class MONDO:0032717 biolink:NamedThing amelogenesis imperfecta, type 3c tmpak2llvmy_mondo_relaxed.owl Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive|AMELOGENESIS IMPERFECTA, TYPE IIIC|AI3C DOID:0111722|OMIM:618386 owl:Class CHEBI:36915 biolink:NamedThing inorganic cation tmpak2llvmy_mondo_relaxed.owl inorganic cations owl:Class HGNC:7456 biolink:NamedThing MT-ND2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051640 biolink:NamedThing organelle localization Any process in which an organelle is transported to, and/or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl organelle localisation|establishment and maintenance of organelle localization owl:Class MONDO:0009384 biolink:NamedThing Leydig cell hypoplasia, type 1 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. tmpak2llvmy_mondo_relaxed.owl LHCGR Leydig cell hypoplasia|Leydig cell hypoplasia, partial|Leydig cell agenesis|Leydig cell hypoplasia caused by mutation in LHCGR|Leydig cell hypoplasia, complete|Leydig cell hypoplasia with male pseudohermaphroditism|Leydig cell hypoplasia, type I|hypergonadotropic hypogonadism, Male, due to Lhcgr defect|Leydig cell Hypoplasia, type 2|luteinizing hormone resistance, female OMIM:238320 owl:Class ECTO:0000776 biolink:NamedThing exposure to signalling molecule An exposure to signalling molecule. tmpak2llvmy_mondo_relaxed.owl exposure to signalling molecule owl:Class MONDO:0021455 biolink:NamedThing benign neoplasm of neck A benign neoplasm that involves the neck. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the neck|benign neck neoplasm|neck benign neoplasm|benign tumor of neck|benign neck tumor|benign tumor of the neck ICD9:229.8|UMLS:C0684815|SCTID:92246000|NCIT:C4884 owl:Class MONDO:0009725 biolink:NamedThing nemaline myopathy 2 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy caused by mutation in NEB|nemaline myopathy 2|NEM2|nemaline myopathy type 2|nemaline myopathy 2, autosomal recessive|NEB nemaline myopathy MESH:C538349|OMIM:256030|UMLS:CN187052|NCIT:C118784|UMLS:C1850569|DOID:0110928 owl:Class CL:1000327 biolink:NamedThing appendix goblet cell A goblet cell that is part of the epithelium proper of appendix. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium proper of appendix FMA:263069 cell owl:Class MONDO:0009059 biolink:NamedThing cysteine Peptiduria tmpak2llvmy_mondo_relaxed.owl cysteine Peptiduria UMLS:C1857438|MESH:C565659|OMIM:219550 owl:Class GO:0098813 biolink:NamedThing nuclear chromosome segregation The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023628 biolink:NamedThing levator syndrome Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. tmpak2llvmy_mondo_relaxed.owl anorectal spasm|paroxysmal proctalgia|levator ani syndrome|proctalgia fugax|levator ani spasm syndrome|painful spasm of anus|levator syndrome|psychogenic anal spasm NCIT:C113615|SCTID:62647006|GARD:0006899|MESH:C535890 https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome owl:Class MONDO:0008016 biolink:NamedThing trismus-pseudocamptodactyly syndrome tmpak2llvmy_mondo_relaxed.owl Hecht-Beals syndrome|Dutch-Kentucky syndrome|Hecht syndrome|arthrogryposis distal type 7|arthrogryposis, distal, type 7|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|DA7|distal arthrogryposis type 7 ICD9:759.89|MESH:C535857|Orphanet:3377|OMIM:158300|GARD:0002621|ICD10:Q68.8|UMLS:C0265226|SCTID:8757006 owl:Class MONDO:0026722 biolink:NamedThing Mullegama-Klein-Martinez syndrome tmpak2llvmy_mondo_relaxed.owl Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME|MKMS OMIM:301022 owl:Class MONDO:0018202 biolink:NamedThing gonadal germ cell tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:363582|UMLS:CN204712 owl:Class UBERON:0007699 biolink:NamedThing tract of spinal cord An axon tract that is part of a spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord tract owl:Class MONDO:0010567 biolink:NamedThing cone dystrophy, X-linked, with tapetal-like sheen tmpak2llvmy_mondo_relaxed.owl cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen OMIM:304030|GARD:0010119|UMLS:C1844775|MESH:C535975 https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen owl:Class MONDO:0000455 biolink:NamedThing cone dystrophy An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. tmpak2llvmy_mondo_relaxed.owl retinal cone dystrophy|stationary cone dystrophy|progressive cone dystrophy|cone dystrophy ICD10:H35.5|UMLS:C0730290|ICD9:362.75|DOID:0050795|Orphanet:1871|GARD:0011897|SCTID:312917007 owl:Class UBERON:0007306 biolink:NamedThing pronephric glomerular capillary A glomerular capillary that is part of a pronephros. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MFOMD_0000004 biolink:NamedThing mental disorder A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.|Clinically significant behavioural and/or cognitive pathology. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_2010_1_31:154971002|MSH:D001523|SNOMEDCT_2010_1_31:192637001|UMLS_CUI:C0004936|SNOMEDCT_2010_1_31:154980002|SNOMEDCT_2010_1_31:74732009|ICD9CM:290-319.99|SNOMEDCT_2010_1_31:154972009|NCI:C2893|SNOMEDCT_2010_1_31:154843007|SNOMEDCT_2010_1_31:192639003 While the ontology subscribes to the widely accepted theory that there is a biomedical basis for mental diseases, the standard descriptions of mental disorders focus solely on symptomatic descriptions. Therefore, we have classified the mental disorders beneath OGMS's 'disease course' via a parent class 'mental disease course' rather than classifying them as diseases. disease_ontology owl:Class OBO:MFOMD_0000025 biolink:NamedThing mental disease course A disease course of a mental disease. tmpak2llvmy_mondo_relaxed.owl mental disorder http://www.jbiomedsem.com/content/1/1/10 owl:Class HP:0000978 biolink:NamedThing Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. tmpak2llvmy_mondo_relaxed.owl Bruisability|Easy bruising|Bruising susceptibility|Easy bruisability|Bruise easily UMLS:C0423798|SNOMEDCT_US:77643000|SNOMEDCT_US:424131007|UMLS:C0013491|SNOMEDCT_US:425075004|SNOMEDCT_US:302227002|MSH:D004438 An ecchymosis is defined as being larger than 1 cm in size. HP:0007472|HP:0000959|HP:0007433 human_phenotype owl:Class MONDO:0004614 biolink:NamedThing chronic monocytic leukemia Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites. tmpak2llvmy_mondo_relaxed.owl monocytic leukemia, chronic SCTID:188745007|NCIT:C34774|ICD9:206.11|DOID:8593|ICD10:C93.1|UMLS:C0023466|ICD9:206.1|ICD9:206.10 owl:Class MONDO:0004600 biolink:NamedThing monocytic leukemia tmpak2llvmy_mondo_relaxed.owl schilling's leukemia ICD9:206.81|ICD10:C93.Z|ICD9:206.91|ICD9:206.90|DOID:8527|SCTID:188744006|ICD9:206.8|ICD9:206.80|ICD10:C93.Z0 owl:Class MONDO:0017450 biolink:NamedThing split foot tmpak2llvmy_mondo_relaxed.owl split foot|split foot (disease) split foot (disease) ICD10:Q72.7|Orphanet:294994|HP:0001839|SCTID:205358006 owl:Class MONDO:0017423 biolink:NamedThing split hand or/and split foot malformation tmpak2llvmy_mondo_relaxed.owl ICD10:Q72.7|Orphanet:294935|ICD10:Q71.6 Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) owl:Class UBERON:0000933 biolink:NamedThing pharyngeal muscle A muscle that acts on the pharynx[WP, vetted]. tmpak2llvmy_mondo_relaxed.owl branchial muscles|muscle of pharynx|muscle organ of pharynx|pharynx muscle|musculus pharyngis|pharynx muscle organ|branchial muscle|tunica muscularis pharyngis|musculi pharyngis owl:Class MONDO:0007871 biolink:NamedThing familial congenital nasolacrimal duct obstruction tmpak2llvmy_mondo_relaxed.owl LCDD|lacrimal duct defect|nasolacrimal duct obstruction|lacrimal puncta, absence of ICD10:Q10.5|OMIM:149700|Orphanet:451612|MESH:C566703 owl:Class MONDO:0018854 biolink:NamedThing acquired purpura fulminans A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF. tmpak2llvmy_mondo_relaxed.owl acquired purpura fulminans|acquired PF UMLS:C4510896|ICD10:D65|Orphanet:49566|UMLS:CN205163|SCTID:725157006|MedDRA:10037556 owl:Class HGNC:9155 biolink:NamedThing PNLIP tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000325 biolink:NamedThing rRNA_large_subunit_primary_transcript A primary transcript encoding a large ribosomal subunit RNA. tmpak2llvmy_mondo_relaxed.owl 35S rRNA primary transcript|rRNA large subunit primary transcript owl:Class SO:0000209 biolink:NamedThing rRNA_primary_transcript A primary transcript encoding a ribosomal RNA. tmpak2llvmy_mondo_relaxed.owl ribosomal RNA primary transcript|rRNA primary transcript owl:Class MONDO:0020360 biolink:NamedThing complete cryptophthalmia tmpak2llvmy_mondo_relaxed.owl Orphanet:98949|DOID:0111719|ICD10:Q11.2 owl:Class MONDO:0007410 biolink:NamedThing isolated cryptophthalmia Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl cryptophthalmos, unilateral or bilateral, isolated|cryptophthalmos with microphthalmia and Peters anomaly|ankyloblepharon, simple|nonsyndromic cryptophthalmia SCTID:718691008|Orphanet:91396|ICD10:Q11.2|UMLS:C1852453|DOID:0111717|MESH:C565138|OMIM:123570 owl:Class MONDO:0006486 biolink:NamedThing uveal melanoma A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. tmpak2llvmy_mondo_relaxed.owl melanoma, uveal, malignant|melanoma (disease) of uvea|melanoma of uvea|uvea melanoma|uvea melanoma (disease)|intraocular melanoma|choroidal melanoma|melanoma of the uvea|iris melanoma|uveal melanoma MedDRA:10061252|MESH:C536494|GARD:0008621|OMIM:155720|NCIT:C7712|ICD10:C69.3|EFO:1000616|UMLS:C0220633|DOID:6039|Orphanet:39044|ONCOTREE:UM owl:Class MONDO:0001164 biolink:NamedThing antisocial personality disorder A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) tmpak2llvmy_mondo_relaxed.owl psychopath.personality|psychopathic personality disorder|asocial personality|dissocial personality disorder|psychopathic personality|sociopathic personality|Sociopathy|psychopathy MESH:D000987|ICD10:F60.2|DOID:10939|NCIT:C88413|SCTID:26665006|ICD9:301.7 owl:Class UBERON:0034953 biolink:NamedThing embryonic lymph sac A population of lymphatic endothelial cell precursors that will form the lymph vessels. tmpak2llvmy_mondo_relaxed.owl primary lymph sac owl:Class MONDO:0010333 biolink:NamedThing corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. tmpak2llvmy_mondo_relaxed.owl corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia|MRXS28|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|Graham-Cox syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|mental retardation, X-linked, syndromic 28|intellectual disability, X-linked, syndromic 28 MESH:C564509|OMIM:300472|GARD:0012486|ICD10:Q87.8|DOID:0060816|Orphanet:52055|SCTID:722282008 owl:Class MONDO:0008344 biolink:NamedThing pulmonary edema of mountaineers, susceptibility to tmpak2llvmy_mondo_relaxed.owl pulmonary edema of mountaineers|high altitude pulmonary hypertension|pulmonary edema of mountaineers, susceptibility to|HAPH ICD9:416.8|GARD:0008348|ICD9:993.2|SCTID:233954004|OMIM:178400|MESH:C535833 owl:Class MONDO:0019562 biolink:NamedThing localized scleroderma Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. tmpak2llvmy_mondo_relaxed.owl localized scleroderma|circumscribed scleroderma|morphea|localised morphoea|Scleroderma, circumscribed or localized|localized scleroderma (disorder) [ambiguous]|localized morphea|localized fibrosing scleroderma|Scleroderma, localized SCTID:201048007|ICD9:701.0|UMLS:C0036420|MESH:D012594|GARD:0007058|DOID:8472|NCIT:C72069|ICD10:L94.0|MedDRA:10039712|Orphanet:90289 owl:Class GO:2001169 biolink:NamedThing regulation of ATP biosynthetic process Any process that modulates the frequency, rate or extent of ATP biosynthetic process. tmpak2llvmy_mondo_relaxed.owl regulation of ATP regeneration|regulation of ATP anabolism|regulation of ATP formation|regulation of ATP biosynthesis|regulation of ATP synthesis owl:Class MONDO:0000250 biolink:NamedThing osmotic diarrheal disease A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. tmpak2llvmy_mondo_relaxed.owl permeability diarrhea|osmotic diarrhea UMLS:C0267556|DOID:0050130|SCTID:2946003|MEDGEN:540779 owl:Class MONDO:0045030 biolink:NamedThing non-infectious diarrheal disease tmpak2llvmy_mondo_relaxed.owl presumed non-infectious diarrhea|non-infective diarrhea UMLS:C0267436|SCTID:69980003 owl:Class MONDO:0020388 biolink:NamedThing double outlet right ventricle with non-committed subpulmonary ventricular septal defect tmpak2llvmy_mondo_relaxed.owl DORV with non-committed subpulmonary VSD ICD10:Q20.1|Orphanet:99046 owl:Class GO:0006939 biolink:NamedThing smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. tmpak2llvmy_mondo_relaxed.owl visceral muscle contraction owl:Class MONDO:0000962 biolink:NamedThing spindle cell lipoma A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. tmpak2llvmy_mondo_relaxed.owl spindle cell lipoma|spindle cell lipoma (morphologic abnormality) NCIT:C4254|ICDO:8857/0|SCTID:404058008|UMLS:C0334474|DOID:10184 owl:Class MONDO:0009259 biolink:NamedThing gamma-glutamylcysteine synthetase deficiency Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. tmpak2llvmy_mondo_relaxed.owl inborn error of glutamate-cysteine ligase activity|glutamate-cysteine ligase deficiency|gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|inborn glutamate-cysteine ligase activity disorder|rare inborn error of glutamate-cysteine ligase activity MESH:C565557|ICD10:D55.1|DOID:0111681|ICD9:270.8|OMIM:230450|Orphanet:33574|SCTID:36799008 owl:Class MONDO:0009131 biolink:NamedThing Riley-Day syndrome A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. tmpak2llvmy_mondo_relaxed.owl HSAN3|familial autonomic nervous dysfunction|Riley-Day syndrome|Riley Day syndrome|hereditary sensory and autonomic neuropathy 3|hereditary sensory and autonomic neuropathy type III|HSAN 3|hereditary sensory neuropathy type 3|dysautonomia, familial|hereditary sensory and autonomic neuropathy type 3|familial dysautonomia|HSAN III|neuropathy, hereditary sensory and autonomic, type 3|neuropathy, hereditary sensory and autonomic, type III|HSN 3 GARD:0007581|DOID:11589|OMIM:223900|Orphanet:1764|MESH:D004402|SCTID:29159009|NCIT:C84706|UMLS:C0013364|MedDRA:10039179|ICD10:G90.1 owl:Class MONDO:0009686 biolink:NamedThing musk, inability to smell tmpak2llvmy_mondo_relaxed.owl musk, inability to smell MESH:C564980|OMIM:254150|UMLS:C1850807 owl:Class HGNC:9958 biolink:NamedThing REN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:758 biolink:NamedThing ASS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013706 biolink:NamedThing intellectual disability, autosomal recessive 23 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 23|mental retardation, autosomal recessive 23|MRT23 UMLS:C3280542|OMIM:614344 owl:Class GO:0016746 biolink:NamedThing acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl acyltransferase activity|transferase activity, transferring acyl groups owl:Class MONDO:0011669 biolink:NamedThing hypotonia-cystinuria syndrome A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl cystinuria with mitochondrial disease|HCS|homozygous 2P21 deletion syndrome|hypotonia-cystinuria syndrome|homozygous 2P16 deletion syndrome, formerly|homozygous 2P16 deletion syndrome MESH:C564710|EFO:0007550|ICD10:E72.0|Orphanet:163690|DOID:0060858|SCTID:721173005|OMIM:606407 owl:Class MONDO:0032697 biolink:NamedThing neurodevelopmental disorder and language delay with or without structural brain abnormalities tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES|NEDLBA OMIM:618354 owl:Class GO:1905214 biolink:NamedThing regulation of RNA binding Any process that modulates the frequency, rate or extent of RNA binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013646 biolink:NamedThing chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. tmpak2llvmy_mondo_relaxed.owl chromosome 8q21.11 deletion syndrome|Del(8)(q21.11)|deletion 8q21.11|8q21.11 microdeletion syndrome|monosomy 8q21.11 ICD10:Q93.5|Orphanet:284160|UMLS:C3280231|DOID:0060425|UMLS:C4305343|SCTID:718615003|OMIM:614230 owl:Class MONDO:0002718 biolink:NamedThing central nervous system teratoma A mature or immature teratoma that affects the central nervous system. tmpak2llvmy_mondo_relaxed.owl teratoma of the central nervous system|central nervous system teratoma|teratoma of central nervous system|teratoma of the CNS|teratoma of CNS|CNS teratoma NCIT:C5441|UMLS:C1332895|DOID:3640|Orphanet:252018 owl:Class MONDO:0001845 biolink:NamedThing uterine corpus lipoleiomyoma A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. tmpak2llvmy_mondo_relaxed.owl uterine corpus lipomatous leiomyoma EFO:1000614|NCIT:C40168|DOID:13957|UMLS:C1519856 owl:Class MONDO:0011847 biolink:NamedThing migraine without aura, susceptibility to, 4 A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. tmpak2llvmy_mondo_relaxed.owl MGOA|common migraine|migraine without aura, susceptibility to, type 4|MGR4|migraine without aura, susceptibility to, 4 OMIM:607501|ICD10:G43.0|ICD9:346.1|ICD10:G43.009|HP:0002083 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class MONDO:0011772 biolink:NamedThing B4GALT1-CDG B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. tmpak2llvmy_mondo_relaxed.owl B4GALT1-CDG|congenital disorder of glycosylation, type IId|carbohydrate deficient glycoprotein syndrome type IId|congenital disorder of glycosylation type 2d|CDG IId|Beta-1,4-galactosyltransferase deficiency|CDG syndrome type IId|CDG-IId|B4GALT1-CDG (CDG-IId)|CDG2D|congenital disorder of glycosylation type IId|CDG 2D DOID:0070256|GARD:0009841|MESH:C535753|ICD10:E77.8|UMLS:C2931009|OMIM:607091|Orphanet:79332|SCTID:725587007 owl:Class MONDO:0009754 biolink:NamedThing neutropenia, lethal congenital, with eosinophilia tmpak2llvmy_mondo_relaxed.owl lethal congenital neutropenia with eosinophilia|neutropenia lethal congenital with eosinophilia|neutropenia, lethal congenital, with eosinophilia GARD:0006107|OMIM:257100|UMLS:C1850381|MESH:C564943 https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia owl:Class MONDO:0005367 biolink:NamedThing heroin dependence Physical and psychological dependence on the drug heroin. tmpak2llvmy_mondo_relaxed.owl Heroin addiction EFO:0004240|SCTID:231477003|UMLS:CN236651|MESH:D006556|DOID:9976|NCIT:C34694 owl:Class MONDO:0005530 biolink:NamedThing opiate dependence Disorders related or resulting from abuse or mis-use of opioids. tmpak2llvmy_mondo_relaxed.owl opioid type dependence|narcotism|opioid dependence ICD10:F11.2|EFO:0005611|MESH:D009293|DOID:2559|ICD9:304.0|ICD9:304.00|SCTID:75544000 owl:Class MONDO:0006193 biolink:NamedThing endometrial hyperplasia without atypia Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia. tmpak2llvmy_mondo_relaxed.owl typical endometrial hyperplasia SCTID:134031000119108|ICD9:621.34|NCIT:C40157|EFO:1000234 owl:Class MONDO:0041161 biolink:NamedThing endometrial hyperplasia A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). tmpak2llvmy_mondo_relaxed.owl endometrial hyperplasia|hyperplasia of endometrium|hyperplasia of the endometrium SCTID:237072009|HP:0040298|DOID:0080365|UMLS:C0014173|NCIT:C3013 Editor note: cede to HPO owl:Class MONDO:0009286 biolink:NamedThing gluteal muscles, absence of tmpak2llvmy_mondo_relaxed.owl gluteal muscles, absence of|absence of gluteal muscle|congenital absence of gluteal muscles|gluteal muscle, absence of MESH:C535561|OMIM:231970|GARD:0008518 https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle owl:Class MONDO:0026782 biolink:NamedThing chondrodysplasia punctata 2, X-linked dominant tmpak2llvmy_mondo_relaxed.owl Conradi-Hunermann-Happle Syndrome|CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT|CDPXD|CDPX2|Happle Syndrome|chondrodysplasia punctata 2, X-linked dominant|Conradi-Hunermann Syndrome 2021-02-01 OMIM:302960 Reason: duplicate. This will be merged with MONDO:0020603 X-linked chondrodysplasia punctata 2' owl:Class CL:2000021 biolink:NamedThing sebaceous gland cell Any native cell that is part of a sebaceous gland. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-24T23:17:00Z cell owl:Class HGNC:11634 biolink:NamedThing TCF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016870 biolink:NamedThing partial deletion of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 5|partial monosomy of chromosome 5 Orphanet:261786 owl:Class GO:0030291 biolink:NamedThing protein serine/threonine kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase. tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000207 biolink:NamedThing exposure to carbon monoxide An exposure to carbon monoxide. tmpak2llvmy_mondo_relaxed.owl exposure to carbon monoxide owl:Class ECTO:9001628 biolink:NamedThing exposure to gas molecular entity An exposure to gas molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to gas molecular entity owl:Class HP:0012575 biolink:NamedThing Abnormal nephron morphology A structural anomaly of the nephron. tmpak2llvmy_mondo_relaxed.owl Abnormality of the nephron UMLS:C4022838 peter 2014-01-16T12:49:04Z human_phenotype owl:Class MONDO:0015283 biolink:NamedThing maternally-inherited cardiomyopathy and hearing loss Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. tmpak2llvmy_mondo_relaxed.owl tRNA-LYS-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness ICD10:I42.8|Orphanet:1349|UMLS:CN199218 owl:Class GO:0045642 biolink:NamedThing positive regulation of basophil differentiation Any process that activates or increases the frequency, rate or extent of basophil differentiation. tmpak2llvmy_mondo_relaxed.owl activation of basophil differentiation|upregulation of basophil differentiation|up regulation of basophil differentiation|stimulation of basophil differentiation|up-regulation of basophil differentiation owl:Class MONDO:0000377 biolink:NamedThing malignant Leydig cell tumor A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. tmpak2llvmy_mondo_relaxed.owl malignant interstitial cell tumor|cancer of Leydig cell|Leydig cell tumor, malignant|Leydig cell cancer|malignant interstitial cell neoplasm|malignant Leydig cell neoplasm|malignant neoplasm of Leydig cell DOID:0050616|ICDO:8650/3|NCIT:C4213|UMLS:C0334410 owl:Class MONDO:0006266 biolink:NamedThing Leydig cell tumor A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. tmpak2llvmy_mondo_relaxed.owl interstitial cell neoplasm|Leydig cell neoplasm|interstitial cell tumor|Leydig cell tumor|Leydig cell tumor, undetermined EFO:1000321|DOID:2696|ICDO:8650/1|UMLS:C0023601|NCIT:C3188|MESH:D007984 Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor owl:Class UBERON:0011203 biolink:NamedThing urachus mesenchyme Mesenchyme that is part of a developing urachus. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2898 biolink:NamedThing DLD tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011858 biolink:NamedThing Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpak2llvmy_mondo_relaxed.owl Low factor IX activity UMLS:C4023159 Severe deficiency of factor IX underlies hemophilia B. peter 2012-05-26T11:35:57Z human_phenotype owl:Class HP:0033062 biolink:NamedThing Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpak2llvmy_mondo_relaxed.owl peter human_phenotype owl:Class MONDO:0014254 biolink:NamedThing otofaciocervical syndrome 2 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene. tmpak2llvmy_mondo_relaxed.owl OTFCS2|otofaciocervical syndrome 2|PAX1 otofaciocervical syndrome|otofaciocervical syndrome caused by mutation in PAX1|otofaciocervical syndrome type 2|OFC2 OMIM:615560|UMLS:C3714942 owl:Class MONDO:0008163 biolink:NamedThing otofaciocervical syndrome Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. tmpak2llvmy_mondo_relaxed.owl OFC syndrome|Fara-Chlupackova syndrome UMLS:C1833691|OMIMPS:166780|Orphanet:2792|GARD:0004169|ICD10:Q87.0 owl:Class MONDO:0007880 biolink:NamedThing congenital laryngeal web Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. tmpak2llvmy_mondo_relaxed.owl subglottic web|subglottic Bar|subglottic bar, congenital heart disease and low stature|laryngeal web, congenital heart disease and low stature|glottic web, congenital anterior|laryngeal web, familial|Laryngeal web|gay Feinmesser Cohen syndrome MESH:C537676|MESH:C563636|GARD:0002446|MedDRA:10023871|Orphanet:2374|SCTID:444921008|ICD10:Q31.0|NCIT:C98970|OMIM:150360 https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome owl:Class UBERON:0008343 biolink:NamedThing intestinal villus of jejunum An intestinal villus in the jejunum. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000829 biolink:NamedThing basophilic myeloblast A myeloblast committed to the basophil lineage. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000835 biolink:NamedThing myeloblast The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. tmpak2llvmy_mondo_relaxed.owl BTO:0000187|FMA:83524 cell owl:Class HGNC:25186 biolink:NamedThing TMEM240 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:27960 biolink:NamedThing SLC6A19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017295 biolink:NamedThing glycerol kinase deficiency, juvenile form Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. tmpak2llvmy_mondo_relaxed.owl Orphanet:284411|ICD10:E74.8 owl:Class MONDO:0010210 biolink:NamedThing xeroderma pigmentosum group A Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. tmpak2llvmy_mondo_relaxed.owl xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum, complementation group A|xeroderma pigmentosum group A|XP1|XPA xeroderma pigmentosum|XPA|xeroderma pigmentosum, type 1|xeroderma pigmentosum caused by mutation in XPA|XP group A|XP, group A|xeroderma pigmentosum complementation group A|XP-A|xeroderma pigmentosum group type A|xeroderma pigmentosum 1 UMLS:C0268135|NCIT:C3965|OMIM:278700|DOID:0110843|Orphanet:276249|GARD:0005624|SCTID:43477006|ICD10:Q82.1 owl:Class UBERON:0007298 biolink:NamedThing pronephric proximal convoluted tubule A proximal convoluted tubule that is part of a pronephros. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004519 biolink:NamedThing synovial angioma A rare hemangioma arising from synovium lining surfaces. tmpak2llvmy_mondo_relaxed.owl synovial hemangioma|layer of synovial tissue hemangioma|angioma of synovium|hemangioma of synovium|hemangioma of the synovium|hemangioma of layer of synovial tissue|angioma of the synovium NCIT:C6525|DOID:8274|UMLS:C1336546 owl:Class GO:0090326 biolink:NamedThing positive regulation of locomotion involved in locomotory behavior Any process that increases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017321 biolink:NamedThing pili torti-onychodysplasia syndrome Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl UMLS:C2931483|Orphanet:2890 owl:Class GO:0015837 biolink:NamedThing amine transport The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl amine/polyamine transport owl:Class MONDO:0020601 biolink:NamedThing mosquito-borne viral encephalitis Viral encephalitis that is transmitted by mosquitos. tmpak2llvmy_mondo_relaxed.owl mosquito-borne viral encephalitis NCIT:C34823 owl:Class MONDO:0001089 biolink:NamedThing acute inferolateral myocardial infarction tmpak2llvmy_mondo_relaxed.owl acute myocardial infarction of inferolateral wall|acute inferolateral myocardial infarction DOID:10649|ICD9:410.20|ICD9:410.22|ICD9:410.21|UMLS:C0340308|SCTID:65547006 Editor note: TODO: positional superclass owl:Class CL:0000404 biolink:NamedThing electrically signaling cell A cell that initiates an electrical signal and passes that signal to another cell. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000211 biolink:NamedThing electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0020413 biolink:NamedThing encircling double aortic arch Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. tmpak2llvmy_mondo_relaxed.owl ICD10:Q25.4|SCTID:764521002|Orphanet:99075 owl:Class MONDO:0006464 biolink:NamedThing thyroid gland mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis. tmpak2llvmy_mondo_relaxed.owl thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma EFO:1000591|NCIT:C7601|UMLS:C1336754 owl:Class MONDO:0007650 biolink:NamedThing MALT lymphoma An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl mucosa-associated lymphoid tissue lymphoma|lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|lymphoma, mucosa-associated lymphoid type|MALT lymphoma|gastric lymphoma, primary|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)|Extranodal marginal zone B-cell lymphoma|familial primary gastric lymphoma|mucosa-associated lymphatic tissue lymphoma|MALToma|MALT-lymphoma|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|Immunocytoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue ONCOTREE:EMALT|SCTID:277622004|ICD10:C88.4|DOID:0050909|GARD:0006485|OMIM:137245|NCIT:C3898|EFO:0000191|UMLS:C0242647|ICDO:9699/3|MedDRA:10060707|ICD9:202.80|UMLS:C1850900|Wikipedia:MALT_lymphoma|Orphanet:52417 owl:Class MONDO:0007818 biolink:NamedThing Hyper-IgE recurrent infection syndrome 1 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. tmpak2llvmy_mondo_relaxed.owl hyper-IgE recurrent infection syndrome, autosomal dominant|autosomal dominant hyperimmunoglobulin E syndrome|HIES, autosomal dominant|hyper-IgE syndrome, autosomal dominant|AD-HIES|Job syndrome|STAT3 deficiency|autosomal dominant HIES|autosomal dominant hyper-IgE syndrome|HIES autosomal dominant|Job's syndrome|hyperimmunoglobulin E syndrome type 1|hyperimmunoglobulin E-recurrent infection syndrome|hyper Ig E syndrome, autosomal dominant|Buckley syndrome|AD hyperimmunoglobulin E syndrome|Job syndrome autosomal dominant|autosomal dominant hyper IgE syndrome|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant Orphanet:2314|OMIM:147060|SCTID:50926003|EFO:0003775|DOID:3261|NCIT:C126342|GARD:0006800|MESH:C567925|ICD10:D82.4 https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome owl:Class MONDO:0100325 biolink:NamedThing odontochondrodysplasia 1 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. tmpak2llvmy_mondo_relaxed.owl odontochondrodysplasia|chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|Goldblatt syndrome|spondylometaphyseal dysplasia with dentinogenesis imperfecta|ODCD|Goldblatt chondrodysplasia SCTID:717823001|ICD10:Q78.8|GARD:0008717|OMIM:184260|UMLS:CN200045|Orphanet:166272 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020812 biolink:NamedThing exposure, dental pulp The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. tmpak2llvmy_mondo_relaxed.owl Pulp Exposure, Dental|DENT PULP EXPOSURE|Exposure of tooth pulp|PULP EXPOSURE DENT|Exposure, Dental Pulp|Dental Pulp Exposure|EXPOSURE DENT PULP MESH:D003789|UMLS:C0011406|EFO:1001782 owl:Class UBERON:0026246 biolink:NamedThing sacral spinal cord white matter tmpak2llvmy_mondo_relaxed.owl sacral spinal cord white matter owl:Class MONDO:0017519 biolink:NamedThing symbrachydactyly of hand and foot, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295136|ICD10:Q73.8|UMLS:CN203252 owl:Class MONDO:0015516 biolink:NamedThing symbrachydactyly of hands and feet Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. tmpak2llvmy_mondo_relaxed.owl De Smet-Fabry-Fryns syndrome ICD10:Q73.8|Orphanet:1570 owl:Class MONDO:0013009 biolink:NamedThing Megarbane-Jalkh syndrome tmpak2llvmy_mondo_relaxed.owl Megarbane Jalkh syndrome|Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure|developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure OMIM:612785|UMLS:C2748555|MESH:C548071|GARD:0010689 https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome owl:Class MONDO:0000167 biolink:NamedThing Huntington disease and related disorders A grouping for Huntington disease and similar diseases. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002791 biolink:NamedThing large cell medulloblastoma A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. tmpak2llvmy_mondo_relaxed.owl large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma UMLS:C1266180|EFO:0008508|ICDO:9474/3|NCIT:C6904|DOID:3857 owl:Class MONDO:0020709 biolink:NamedThing Majocchi granuloma An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. tmpak2llvmy_mondo_relaxed.owl Majocchi's granuloma owl:Class MONDO:0005036 biolink:NamedThing gastric adenocarcinoma A carcinoma that arises from glandular epithelial cells of the stomach tmpak2llvmy_mondo_relaxed.owl stomach adenocarcinoma|gastric adenocarcinoma|gastric (stomach) adenocarcinoma|STAD|adenocarcinoma of stomach|adenocarcinoma - stomach|adenocarcinoma of the stomach SCTID:408647009|DOID:3717|UMLS:C0278701|NCIT:C4004|EFO:0000503|ONCOTREE:STAD owl:Class MONDO:0013157 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 tmpak2llvmy_mondo_relaxed.owl MDDGA5|muscle-eye-brain-FKRP related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related OMIM:613153|DOID:0111241|UMLS:C3150413 owl:Class MONDO:0001682 biolink:NamedThing diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl UMLS:C0152953|DOID:13310|ICD9:032.83|ICD10:A36.89|SCTID:13596001 owl:Class GO:0048869 biolink:NamedThing cellular developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:27592 biolink:NamedThing Bovinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9895 biolink:NamedThing Bovidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033569 biolink:NamedThing combined oxidative phosphorylation deficiency 49 tmpak2llvmy_mondo_relaxed.owl COXPD49|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 OMIM:619024 owl:Class CHEBI:35610 biolink:NamedThing antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. tmpak2llvmy_mondo_relaxed.owl anticancer agent|antineoplastic|anticancer agents|cytostatic|antineoplastic agents owl:Class MONDO:0018968 biolink:NamedThing iniencephaly Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. tmpak2llvmy_mondo_relaxed.owl ICD10:Q00.2|UMLS:C0152234|ICD9:740.2|NCIT:C124549|Orphanet:63259|MedDRA:10022034|GARD:0010506|SCTID:2438005 https://rarediseases.info.nih.gov/diseases/10506/iniencephaly owl:Class MONDO:0007314 biolink:NamedThing chemodectoma, intraabdominal, with cutaneous angiolipomas tmpak2llvmy_mondo_relaxed.owl chemodectoma, intraabdominal, with cutaneous angiolipomas|abdominal chemodectomas with cutaneous angiolipomas GARD:0001265|OMIM:118350|UMLS:C2930928|MESH:C535552 owl:Class MONDO:0002443 biolink:NamedThing bruxism Excessive clenching of the jaw and grinding of the teeth. tmpak2llvmy_mondo_relaxed.owl bruxism|bruxism (disease)|grinding teeth|teeth grinding|bruxism - teeth grinding|sleep related bruxism bruxism (disease) ICD9:327.53|ICD10:F45.8|HP:0003763|ICD10:G47.63|DOID:2846 owl:Class MONDO:0007965 biolink:NamedThing melanoma, malignant familial intraocular tmpak2llvmy_mondo_relaxed.owl melanoma, malignant familial intraocular OMIM:155700|UMLS:C1835043|MESH:C563596 owl:Class MONDO:0018961 biolink:NamedThing familial melanoma Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. tmpak2llvmy_mondo_relaxed.owl hereditary melanoma (disease) GARD:0003460|UMLS:C2314896|ICD10:C43.3|ICD10:C43.8|ICD10:C43.6|ICD10:C43.4|DOID:6846|ICD10:C43.2|Orphanet:618|ICD10:C43.0|ICD10:C43.7|ICD10:C43.5|ICD10:C43.1|NCIT:C8498 owl:Class UBERON:3010200 biolink:NamedThing vasculature of respiratory integument Blood vessels in respiratory skin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000888 biolink:NamedThing gastrointestinal mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl gastrointestinal system mucosa inflammation|mucositis|inflammation of gastrointestinal system mucosa|gastrointestinal system mucosaitis DOID:0080178|ICD9:558.9|SCTID:95518006|MESH:D052016|NCIT:C3853|UMLS:C0521585|ICD9:538 owl:Class MONDO:0005828 biolink:NamedThing listeriosis A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. tmpak2llvmy_mondo_relaxed.owl Listeria monocytogenes caused disease or disorder|Listeria monocytogenes infection|infection by Listeria monocytogenes|Listeria monocytogenes disease or disorder|Listeria infection|Listeria monocytogenes infectious disease ICD10:A32|ICD10:A32.1|GARD:0006915|DOID:11573|ICD10:A32.7|Orphanet:533|NCIT:C82994|UMLS:C0023860|ICD10:A32.9|EFO:0007347|ICD9:027.0|MESH:D008088|ICD10:A32.8|MedDRA:10024641|ICD10:A32.0 owl:Class CL:0000103 biolink:NamedThing bipolar neuron A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body. tmpak2llvmy_mondo_relaxed.owl FMA:67282 cell owl:Class UBERON:0015790 biolink:NamedThing autopod skin A zone of skin that is part of a autopod region. tmpak2llvmy_mondo_relaxed.owl paw skin owl:Class MONDO:0005582 biolink:NamedThing binge eating disorder Recurrent episodes of over-eating. tmpak2llvmy_mondo_relaxed.owl binge eating|binge eating disorder SCTID:439960005|NCIT:C97162|MESH:D002032|EFO:0005924 owl:Class MONDO:0004392 biolink:NamedThing intracranial extraskeletal myxoid chondrosarcoma An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium. tmpak2llvmy_mondo_relaxed.owl intracranial extraskeletal myxoid chondrosarcoma|intracranial chondrosarcoma UMLS:C1334238|NCIT:C5462|DOID:7903 owl:Class GO:0071695 biolink:NamedThing anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100093 biolink:NamedThing myoclonus, familial, 1 Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. tmpak2llvmy_mondo_relaxed.owl MYOCL1|myoclonus, familial cortical|FCM OMIM:614937 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0006631 biolink:NamedThing osteoarthritis, toe Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle. tmpak2llvmy_mondo_relaxed.owl EFO:1000788 owl:Class GO:0098801 biolink:NamedThing regulation of renal system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0008001 biolink:NamedThing hematopoietic precursor cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4921 biolink:NamedThing HIVEP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017625 biolink:NamedThing familial primary hypomagnesemia with hypocalcuria tmpak2llvmy_mondo_relaxed.owl SCTID:711151004|UMLS:CN227163|Orphanet:306519 owl:Class SO:0001524 biolink:NamedThing chromosomally_aberrant_genome When a genome contains an abnormal amount of chromosomes. tmpak2llvmy_mondo_relaxed.owl chromosomally aberrant genome owl:Class MONDO:0013476 biolink:NamedThing hypertrophic cardiomyopathy 19 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in CALR3|CMH19|cardiomyopathy familial hypertrophic 19|cardiomyopathy, familial hypertrophic, type 19|hypertrophic cardiomyopathy type 19|cardiomyopathy, familial hypertrophic, 19|CALR3 hypertrophic cardiomyopathy UMLS:C3151266|OMIM:613875|DOID:0110325 owl:Class UBERON:0002051 biolink:NamedThing epithelium of bronchiole An epithelium that is part of a bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiolar epithelium|epithelial tissue of lobular bronchiole|epithelium of lobular bronchiole|bronchiole epithelium|epithelial tissue of bronchiole|bronchiole epithelial tissue|lobular bronchiole epithelial tissue|lobular bronchiole epithelium owl:Class MONDO:0002450 biolink:NamedThing prostatic adenoma Focal benign glandular hyperplasia in the prostate gland. tmpak2llvmy_mondo_relaxed.owl prostate adenoma|prostate gland adenoma|benign adenoma of prostate|adenoma of prostate|adenoma of the prostate|adenoma - prostate NCIT:C4795|UMLS:C0520477|ICD9:600.20|DOID:2883|SCTID:21173002 owl:Class MONDO:0021510 biolink:NamedThing benign neoplasm of prostate A benign neoplasm that involves the prostate gland. tmpak2llvmy_mondo_relaxed.owl benign tumor of prostate|prostate gland benign neoplasm|benign neoplasm of the prostate|benign prostate neoplasm|benign prostatic neoplasm|benign tumor of the prostate|benign prostate tumor ICD9:222.2|SCTID:92308005|NCIT:C3613|ICD10:D29.1|UMLS:C0154009 owl:Class MONDO:0019148 biolink:NamedThing Wolman disease Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. tmpak2llvmy_mondo_relaxed.owl Wolman xanthomatosis|primary familial xanthomatosis with adrenal calcification|familial xanthomatosis|xanthomatosis, familial|acid esterase deficiency|lysosomal acid lipase deficiency|familial visceral xanthomatosis|acid lipase deficiency|Wolman disease|Wolman's disease|liposomal acid lipase deficiency, Wolman type|primary familial xanthomatosis|Wolman's or triglyceride storage type III disease|deficiency of cholesterol esterase and triacylglycerol lipase UMLS:C0043208|SCTID:238074007|ICD10:E75.5|SCTID:82500001|Orphanet:75233|MESH:D015223|MedDRA:10053687|DOID:14497|UMLS:CN438428|NCIT:C61271|GARD:0007899 owl:Class MONDO:0004507 biolink:NamedThing atypical breast papilloma An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. tmpak2llvmy_mondo_relaxed.owl atypical breast papilloma DOID:8227|UMLS:C1332346|NCIT:C36089 owl:Class MONDO:0006147 biolink:NamedThing chronic eosinophilic leukemia, not otherwise specified A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl CELNOS|CEL/hypereosinophilic syndrome|eosinophilic leukemia|CEL|chronic eosinophilic leukemia|chronic eosinophilic leukemia/hypereosinophilic syndrome EFO:1000178|NCIT:C4563|ONCOTREE:CELNOS|ICDO:9964/3 owl:Class MONDO:0004043 biolink:NamedThing ureter inverted papilloma A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpak2llvmy_mondo_relaxed.owl inverted papilloma of the ureter|inverted papilloma of ureter|ureteral inverted papilloma|ureter inverted papilloma UMLS:C1336874|NCIT:C6174|DOID:6935 owl:Class MONDO:0008878 biolink:NamedThing bone dysplasia, lethal Holmgren type Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl bone dysplasia, lethal, Holmgren type|bone dysplasia lethal Holmgren type|autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type SCTID:732249002|UMLS:C1859407|OMIM:211120|ICD10:Q77.8|GARD:0000922|Orphanet:1842|MESH:C565896 https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type owl:Class UBERON:0016550 biolink:NamedThing spinal cord column tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044201 biolink:NamedThing T+ B+ severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl T+B+ SCID|T-cell positive B-cell positive SCID ICD10:D81.2|Orphanet:397802 owl:Class CHEBI:48376 biolink:NamedThing carbamimidic acid tmpak2llvmy_mondo_relaxed.owl carbonamidimidic acid|H2N-C(OH)=NH|pseudourea|H2N-C(=NH)-OH|Isoharnstoff|HO-C(=NH)-NH2|carbamimidic acid|carbamimic acid|isourea owl:Class CHEBI:48379 biolink:NamedThing isourea A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives. tmpak2llvmy_mondo_relaxed.owl isoureas owl:Class MONDO:0019547 biolink:NamedThing Wells syndrome Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. tmpak2llvmy_mondo_relaxed.owl bullous cellulitis with eosinophilia|Wells' syndrome|eosinophilic cellulitis SCTID:238931006|GARD:0000329|ICD9:682.9|Orphanet:901|UMLS:C0343101|ICD10:L98.3|MESH:C536693 https://rarediseases.info.nih.gov/diseases/329/wells-syndrome owl:Class MONDO:0011051 biolink:NamedThing lethal short-limb skeletal dysplasia, Al Gazali type tmpak2llvmy_mondo_relaxed.owl lethal short-limb skeletal dysplasia, Al Gazali type|lethal neonatal short limb dwarfism|lethal short limb skeletal dysplasia Al Gazali type OMIM:601356|GARD:0004827|MESH:C537598|UMLS:C1832435 https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type owl:Class MONDO:0004931 biolink:NamedThing residual stage corticosteroid-induced glaucoma tmpak2llvmy_mondo_relaxed.owl DOID:9948|ICD9:365.32|UMLS:C0339580|SCTID:193549003 owl:Class MONDO:0004930 biolink:NamedThing steroid-induced glaucoma tmpak2llvmy_mondo_relaxed.owl corticosteroid-induced glaucoma SCTID:1654001|ICD9:365.3|DOID:9946|UMLS:C0339578|ICD9:365.89 owl:Class MONDO:0013696 biolink:NamedThing chromosome 2P16.3 deletion syndrome tmpak2llvmy_mondo_relaxed.owl schizophrenia 17|chromosome 2P16.3 deletion syndrome UMLS:C3808494|OMIM:614332 owl:Class MONDO:0018438 biolink:NamedThing eosinophilic gastrointestinal disease tmpak2llvmy_mondo_relaxed.owl primary eosinophilic gastrointestinal disease|EGID ICD10:K52.8|Orphanet:402029|UMLS:CN226154 owl:Class MONDO:0012912 biolink:NamedThing pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). tmpak2llvmy_mondo_relaxed.owl PPHP|pseudo-pseudohypoparathyroidism|Albright Hereditary osteodystrophy with Multiple hormone Resistance|Albright hereditary osteodystrophy without multiple hormone resistance|Pseudopseudo-hypoparathyroidism|Albright hereditary osteodystrophy-PPHP syndrome|pseudopseudohypoparathyroidism|aho-PPHP syndrome|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|Normocalcemic pseudohypoparathyroidism NCIT:C129722|Orphanet:665|DOID:4183|OMIM:612463|UMLS:C0033835|GARD:0007860|SCTID:237659007|MESH:D011556|Orphanet:79445|ICD9:275.49|ICD10:E20.1 https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism owl:Class MONDO:0100388 biolink:NamedThing acute myeloid leukemia, Monosomy 5 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.) tmpak2llvmy_mondo_relaxed.owl AML, Monosomy 5 owl:Class HP:0000774 biolink:NamedThing Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. tmpak2llvmy_mondo_relaxed.owl Narrow shoulders|Reduced anterior-posterior chest diameter|Low chest circumference|Narrow thorax|Narrow chest SNOMEDCT_US:249671009|UMLS:C0426790 HP:0000909|HP:0005252|HP:0006588 human_phenotype owl:Class HP:0005257 biolink:NamedThing Thoracic hypoplasia tmpak2llvmy_mondo_relaxed.owl Small chest|Small thorax UMLS:C1837482 HP:0001590 human_phenotype owl:Class MONDO:0004240 biolink:NamedThing posterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the bladder. tmpak2llvmy_mondo_relaxed.owl posterior urethral malignant neoplasm|posterior urethra malignant neoplasm|malignant neoplasm of the posterior urethra|posterior urethra malignant tumor|malignant tumor of the posterior urethra|malignant tumor of posterior urethra|posterior urethral cancer|malignant neoplasm of posterior urethra|posterior urethral malignant tumor UMLS:C0279931|DOID:7488|NCIT:C7640 owl:Class MONDO:0001051 biolink:NamedThing acute otitis externa Acute form of otitis externa. tmpak2llvmy_mondo_relaxed.owl otitis externa, acute|acute swimmers' ear|acute otitis externa|beach ear|acute bacterial inflammation of external ear|acute otitis externa, diffuse|acute swimmer's ear|tank ear SCTID:30250000|MEDGEN:508459|DOID:10518|ICD9:380.12|UMLS:C0149948 owl:Class GO:0051604 biolink:NamedThing protein maturation Any process leading to the attainment of the full functional capacity of a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004628 biolink:NamedThing gastroduodenitis tmpak2llvmy_mondo_relaxed.owl gastroduodenitis|peptic ulcer gastroduodenitis|gastritis and duodenitis DOID:8644|SCTID:196731005|ICD9:535.4|ICD9:535.50|UMLS:C0267166 owl:Class MONDO:0024415 biolink:NamedThing hemorrhagic duodenitis tmpak2llvmy_mondo_relaxed.owl erosive duodenitis|hemorrhagic duodenitis|multiple duodenal erosions UMLS:C0341245|SCTID:95531001|ICD9:535.61 owl:Class MONDO:0030922 biolink:NamedThing intellectual disability, autosomal dominant 56 tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 56|intellectual disability, autosomal dominant 56|autosomal dominant intellectual disability 56|MRD56|mental retardation, autosomal dominant 56 UMLS:CN787270|OMIM:617854|DOID:0080226 owl:Class HGNC:2230 biolink:NamedThing COPA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003300 biolink:NamedThing roof plate of telencephalon A roof plate that is part of a telencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl roofplate medulla telencephalon|roofplate of telencephalon|roof plate telencephalon|telencephalon roofplate|telencephalon roof plate owl:Class MONDO:0013181 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A3 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. tmpak2llvmy_mondo_relaxed.owl WDR72 amelogenesis imperfecta|amelogenesis imperfecta hypomaturation type 2A3|amelogenesis imperfecta caused by mutation in WDR72|amelogenesis imperfecta type IIA3|amelogenesis imperfecta, hypomaturation type, IIA3|amelogenesis imperfecta hypomaturation type IIA3|AI2A3 OMIM:613211|ICD10:K00.5|MESH:C567706|UMLS:C2750771|DOID:0110061 owl:Class MONDO:0020744 biolink:NamedThing Mobitz type I atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) tmpak2llvmy_mondo_relaxed.owl type 1 second degree AV block|Wenckebach block|type 1 2nd degree AV block|second degree atrioventricular block Möbitz type I|AV block second degree Möbitz type I|type 1 second degree atrioventricular block|AV block second degree Mobitz type I|Möbitz I|second degree atrioventricular block Mobitz type I|Möbitz type I second degree AV block|Mobitz I|Mobitz type I second degree AV block|Mobitz type I NCIT:C62017 owl:Class MONDO:0000467 biolink:NamedThing second-degree atrioventricular block Intermittent failure of atrial electrical impulse conduction to the ventricles. tmpak2llvmy_mondo_relaxed.owl second-degree heart block|AV block second degree|second degree AV block|second degree atrioventricular block|atrioventricular block, second degree|atrioventricular block second degree NCIT:C111119|ICD9:426.13|DOID:0050822|UMLS:C0264906|UMLS:C1621824|SCTID:195042002 owl:Class MONDO:0013536 biolink:NamedThing heme oxygenase 1 deficiency tmpak2llvmy_mondo_relaxed.owl heme oxygenase 1 deficiency|HMOX1D UMLS:C1841651|Orphanet:562509|MESH:C564200|OMIM:614034 owl:Class MONDO:0021161 biolink:NamedThing gonococcal prostatitis An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl Neisseria gonorrhoeae prostatitis (disease)|Neisseria gonorrhoeae caused prostatitis (disease) SCTID:197967000|UMLS:C0341755 owl:Class GO:0004046 biolink:NamedThing aminoacylase activity Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. tmpak2llvmy_mondo_relaxed.owl L-aminoacylase activity|dehydropeptidase II activity|benzamidase activity|N-acyl-L-amino-acid amidohydrolase activity|histozyme activity|acylase I activity|long acyl amidoacylase activity|L-amino-acid acylase activity|alpha-N-acylaminoacid hydrolase activity|hippurase activity|short acyl amidoacylase activity|amido acid deacylase activity|aminoacylase I activity owl:Class MONDO:0015457 biolink:NamedThing corpus callosum agenesis-double urinary collecting system syndrome tmpak2llvmy_mondo_relaxed.owl Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome|Ben Ari-Shuper-Mimouni syndrome|corpus callosum agenesis - double urinary collecting system|agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis double urinary collecting GARD:0001536|Orphanet:1492|MESH:C535427|GARD:0000852|UMLS:C2930897 https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting owl:Class MONDO:8000003 biolink:NamedThing streptococcus pneumoniae discitis Discitis caused by infection with Streptococcus pneumoniae. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011625 biolink:NamedThing autosomal dominant nonsyndromic deafness 18 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 18|autosomal dominant nonsyndromic deafness type 18|DFNA18|deafness, autosomal dominant 18 MESH:C565267|UMLS:C1853760|DOID:0110549|ICD10:H90.3|OMIM:606012 owl:Class MONDO:0008526 biolink:NamedThing talonavicular coalition tmpak2llvmy_mondo_relaxed.owl talonavicular coalition MESH:C536895|GARD:0010062|OMIM:186750 https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition owl:Class MONDO:0011106 biolink:NamedThing facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. tmpak2llvmy_mondo_relaxed.owl FDLAB syndrome|Traboulsi syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|FDLAB|facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs Orphanet:412022|MESH:C563293|OMIM:601552|ICD10:Q87.0|UMLS:C1832167 owl:Class MONDO:0032642 biolink:NamedThing arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development tmpak2llvmy_mondo_relaxed.owl ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|ACCIID Orphanet:565858|OMIM:618265 owl:Class GO:0098871 biolink:NamedThing postsynaptic actin cytoskeleton The actin cytoskeleton that is part of a postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012906 biolink:NamedThing primary ciliary dyskinesia 9 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 9|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9|ciliary dyskinesia, primary, 9, with or without situs inversus|primary ciliary dyskinesia 9|ciliary dyskinesia, primary, type 9|CILD9|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAI2 OMIM:612444|MESH:C567310|ICD10:Q34.8|DOID:0110622|UMLS:C2676235 owl:Class MONDO:0016560 biolink:NamedThing ptosis-syndactyly-learning difficulties syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:238766|UMLS:CN201643 owl:Class MONDO:0017309 biolink:NamedThing neonatal Marfan syndrome Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. tmpak2llvmy_mondo_relaxed.owl neonatal MFS SCTID:763839005|UMLS:CN202885|UMLS:CN536247|ICD10:Q87.4|Orphanet:284979 owl:Class MONDO:0044684 biolink:NamedThing tuberculous meningitis tmpak2llvmy_mondo_relaxed.owl TBM|tubercular meningitis Orphanet:499004|SCTID:58437007 owl:Class MONDO:0024746 biolink:NamedThing immature teratoma A teratoma composed of immature, fetal-type tissues. tmpak2llvmy_mondo_relaxed.owl immature teratoma|teratoma, malignant|malignant teratoma ICDO:9080/3|NCIT:C4286 owl:Class MONDO:0004701 biolink:NamedThing uterine polyp A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. tmpak2llvmy_mondo_relaxed.owl uterine polyp|endometrial/uterine polyp|polyp of uterus|polyp of corpus uteri|uterus polyp|polyp of endometrium|polyp of the uterus|polyp, uterus ICD10:N84.0|ICD9:621.0|DOID:9042|SCTID:11314008|NCIT:C3662|UMLS:C0156369 owl:Class UBERON:0013696 biolink:NamedThing tonsil epithelium The epithelium that forms the surface of the tonsil dips into the underlying connective tissue in numerous places, forming crypts kown as tonsillar crypts. Stratified squamous epithelium, that may be heavily infiltrated by lymphocytes. Epithelial cells are present in the germinal as well as in the periphery of the nodule. tmpak2llvmy_mondo_relaxed.owl epithelium of tonsil|tonsil epithelial cell owl:Class MONDO:0004510 biolink:NamedThing inflammatory liposarcoma A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. tmpak2llvmy_mondo_relaxed.owl inflammatory liposarcoma UMLS:C1370890|NCIT:C6508|DOID:8233 owl:Class UBERON:0014875 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 5 A distal epiphysis that is part of a distal phalanx of pedal digit 5. tmpak2llvmy_mondo_relaxed.owl head of distal phalanx of fifth digit of foot|distal epiphysis of distal phalanx of little toe|head of distal phalanx of little toe|ungual tuberosity of distal phalanx of fifth toe|distal end of distal phalanx of little toe|distal epiphysis of distal phalanx of pedal digit V|head of distal phalanx of fifth toe owl:Class HP:0000201 biolink:NamedThing Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. tmpak2llvmy_mondo_relaxed.owl Robin sequence|Pierre-robin malformation|Pierre Robin sequence|Pierre-robin deformity|Pierre-robin anomaly UMLS:C0031900|MSH:D010855|SNOMEDCT_US:4602007 human_phenotype owl:Class HP:0031816 biolink:NamedThing Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. tmpak2llvmy_mondo_relaxed.owl 2018-04-29 14:55:47+00:00 peter human_phenotype owl:Class UBERON:0012084 biolink:NamedThing lumen of secondary bronchus An anatomical cavity that is part of a lobar bronchus. tmpak2llvmy_mondo_relaxed.owl lobar bronchial lumen|lumen of lobar bronchus|secondary bronchial lumen owl:Class UBERON:0012082 biolink:NamedThing bronchial lumen An anatomical cavity that is part of a bronchus. tmpak2llvmy_mondo_relaxed.owl bronchial lumen|lumen of bronchus owl:Class MONDO:0043797 biolink:NamedThing spinal cord injury Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). tmpak2llvmy_mondo_relaxed.owl traumatic myelopathy|Myelopathies, post-traumatic|spinal cord Contusions|injury of spinal cord|Injuries, spinal cord|spinal cord Traumas|cord laceration, spinal|spinal cord Lacerations|cord Contusions, spinal|spinal cord contusion|post-traumatic myelopathy|laceration, spinal cord|spinal cord transection|Traumas, spinal cord|Myelopathies, traumatic|cord trauma, spinal|post traumatic myelopathy|cord Traumas, spinal|spinal cord injury|spinal cord laceration|cord transection, spinal|spinal cord trauma|Transections, spinal cord|cord injury, spinal|myelopathy, post-traumatic|cord Transections, spinal|Contusions, spinal cord|spinal cord Transections|trauma, spinal cord|cord contusion, spinal|cord Injuries, spinal|injury, spinal cord|myelopathy, traumatic|transection, spinal cord|traumatic Myelopathies|Lacerations, spinal cord|cord Lacerations, spinal|contusion, spinal cord|post-traumatic Myelopathies Orphanet:90058|SCTID:90584004|EFO:1001919|MESH:D013119 owl:Class MONDO:0018924 biolink:NamedThing microphthalmia, Lenz type Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. tmpak2llvmy_mondo_relaxed.owl Lenz dysplasia|microphthalmia or anophthalmos with associated anomalies (formerly)|syndromic microphthalmia type 1|microphthalmia Lenz type|MCOPS1|MAA (formerly)|Lenz microphthamia syndrome|Lenz microphthalmia|microphthalmia syndromic 1 Orphanet:568|ICD10:Q11.2|GARD:0000087 Editors note: TODO check owl:Class UBERON:0001715 biolink:NamedThing oculomotor nuclear complex Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). tmpak2llvmy_mondo_relaxed.owl third cranial nerve nucleus|nIII|oculomotor nucleus|oculomotor motornucleus|motor nucleus III|nucleus of oculomotor nerve|nucleus nervi oculomotorii|oculomotor III nuclear complex|nucleus of oculomotor nuclear complex|oculomotor III nucleus|OM|nucleus oculomotorius|nucleus of third cranial nerve owl:Class UBERON:0019267 biolink:NamedThing gray matter of midbrain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003313 biolink:NamedThing endometrioid stromal sarcoma of the vagina A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma. tmpak2llvmy_mondo_relaxed.owl vaginal endometrial stromal sarcoma|endometrioid stromal sarcoma of vagina|vagina endometrioid stromal sarcoma|endometrioid stromal sarcoma of the vagina UMLS:C3642329|NCIT:C40270|DOID:5170 owl:Class OBO:CHR_9606-chr2q33.1 biolink:NamedThing chr2q33.1 (Human) tmpak2llvmy_mondo_relaxed.owl 202500000 196600000 hg38 owl:Class MONDO:0054860 biolink:NamedThing deafness, autosomal recessive 110 tmpak2llvmy_mondo_relaxed.owl DFNB110|deafness, autosomal recessive 110 OMIM:618094|DOID:0111644 owl:Class GO:0051462 biolink:NamedThing regulation of cortisol secretion Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100255 biolink:NamedThing Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:27837003|UMLS:C0265294|MSH:C536252 doelkens 2010-07-14T05:15:56Z HP:0005704|HP:0000948|HP:0006427|HP:0005636|HP:0005002 human_phenotype owl:Class CL:0000513 biolink:NamedThing cardiac muscle myoblast A precursor cell destined to differentiate into cardiac muscle cell. tmpak2llvmy_mondo_relaxed.owl cardiac muscle progenitor cell|cardiomyocyte progenitor cell FMA:84797 CL:0000714 cell owl:Class CL:0010021 biolink:NamedThing cardiac myoblast tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:1000362 biolink:NamedThing transitional myocyte of interventricular septum A transitional myocyte that is part of the interventricular septum. tmpak2llvmy_mondo_relaxed.owl FMA:263154 cell owl:Class MONDO:0017453 biolink:NamedThing fetal parvovirus syndrome Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. tmpak2llvmy_mondo_relaxed.owl mother-to-child transmission of parvovirus syndrome|Maternofetal infection by parvovirus|Human parvovirus B19 caused infectious embryofetopathy|Human parvovirus B19 infectious embryofetopathy|fifth disease|Parvovirus B19 antenatal infection|Parvovirus antenatal infection Orphanet:295|GARD:0002310|GARD:0004236|ICD10:P35.8|MESH:C536301|SCTID:715197005 owl:Class MONDO:0000114 biolink:NamedThing cerebelloparenchymal disorder tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016426 biolink:NamedThing fusariosis Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. tmpak2llvmy_mondo_relaxed.owl Fusarium disease or disorder|Fusarium infection|Fusarium infectious disease|Fusarium caused disease or disorder SCTID:64250002|EFO:1001795|MedDRA:10051919|MESH:D060585|Orphanet:228119|ICD10:B48.7|DOID:0050289 owl:Class MONDO:0007964 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 2 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 2|familial dysplastic nevi|susceptibility to cutaneous malignant melanoma 2|melanoma, cutaneous malignant, susceptibility to, type 2|dysplastic nevus syndrome|CMM2|B-K Mole syndrome|Atypical Mole syndrome NCIT:C7584|MESH:D004416|EFO:0004199|OMIM:155601|DOID:10041 owl:Class MONDO:0044989 biolink:NamedThing foot disease A disease or disorder that involves the pes. tmpak2llvmy_mondo_relaxed.owl disorder of pes|foot disease|pes disease|disease or disorder of pes|disorder of foot|pes disease or disorder|disease of pes MESH:D005534|SCTID:118932009|UMLS:C0016510 owl:Class MONDO:0037737 biolink:NamedThing peritoneal solitary fibrous tumor A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels. tmpak2llvmy_mondo_relaxed.owl peritoneal solitary fibrous tumor NCIT:C126357|UMLS:C4288403 owl:Class MONDO:0013221 biolink:NamedThing Miyoshi muscular dystrophy 2 tmpak2llvmy_mondo_relaxed.owl MIYOSHI muscular dystrophy 2|Miyoshi myopathy 2|Miyoshi muscular dystrophy 2|MMD2 OMIM:613318|MESH:C567646|DOID:0070200|UMLS:C2750077 owl:Class UBERON:0019204 biolink:NamedThing skin epithelium Any region of epithelium that is part of a skin region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006893 biolink:NamedThing Pasteurella hemorrhagic septicemia Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. tmpak2llvmy_mondo_relaxed.owl hemorrhagic bacteremia|septicemia, hemorrhagic|haemorrhagic septicemia|haemorrhagic Septicaemia|Septicaemia, haemorrhagic|Septicaemia, hemorrhagic|bacteremia, haemorrhagic|bacteremia, hemorrhagic|haemorrhagic bacteremia|hemorrhagic Septicaemia|septicemia, haemorrhagic SCTID:198462004|MESH:D006483|EFO:1001091 owl:Class UBERON:0034933 biolink:NamedThing layer of smooth muscle tissue Any organ component layer that consists of smooth muscle tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012914 biolink:NamedThing chromosome 1q21.1 deletion syndrome 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. tmpak2llvmy_mondo_relaxed.owl 1q21.1 microdeletion syndrome|Del(1)(q21)|monosomy 1q21.1|chromosome 1q21.1 microdeletion syndrome|1q21.1 microdeletion|chromosome 1q21.1 deletion syndrome, 1.35-MB DOID:0060411|Orphanet:250989|SCTID:699305004|ICD10:Q93.5|ICD9:758.33|OMIM:612474|GARD:0010813 owl:Class MONDO:0015864 biolink:NamedThing mixed germ cell tumor A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum. tmpak2llvmy_mondo_relaxed.owl mixed germ cell neoplasm|mixed germ cell tumour|mixed germ cell tumor|mixed germ cell cancer|combined germ cell tumor|combined germ cell neoplasm DOID:3306|Orphanet:180234|ICDO:9085/3|UMLS:C0334524|NCIT:C4290 owl:Class MONDO:0020561 biolink:NamedThing myxoid/round cell liposarcoma Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. tmpak2llvmy_mondo_relaxed.owl myxoid/round-cell liposarcoma|MRCLS ICD10:C49.9|Orphanet:99967|ONCOTREE:MRLS owl:Class MONDO:0011976 biolink:NamedThing lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones|Rajab-Spranger syndrome|lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones OMIM:608154|MESH:C564283|Orphanet:50811|SCTID:721973006|ICD10:Q78.8 owl:Class MONDO:0012853 biolink:NamedThing Fontaine progeroid syndrome A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. tmpak2llvmy_mondo_relaxed.owl Gorlin-Chaudhry-Moss syndrome|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|FPS|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|GCM syndrome|progeroid syndrome, congenital, Petty type|Fontaine progeroid syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Petty syndrome|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|Petty Laxova Wiedemann syndrome|progeroid syndrome Petty type|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|progeroid syndrome congenital Petty type|Petty-Laxova-Wiedemann syndrome|progeroid syndrome, Petty type|Gorlin Chaudhry Moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|GCMS Orphanet:2095|ICD10:Q87.0|UMLS:C2931653|SCTID:205800003|GARD:0004497|OMIM:233500|ICD10:E34.8|OMIM:612289|ICD9:759.89|GARD:0000066|MESH:C537290 https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type owl:Class MONDO:0032599 biolink:NamedThing immunodeficiency 15a tmpak2llvmy_mondo_relaxed.owl IMD15A|IMMUNODEFICIENCY 15A OMIM:618204 owl:Class GO:0010911 biolink:NamedThing regulation of isomerase activity Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014936 biolink:NamedThing ZTTK syndrome tmpak2llvmy_mondo_relaxed.owl ZTTK syndrome|Tokita-Kim syndrome|ZTTK multiple congenital anomalies-mental retardation syndrome|Zhu-Tokita-Takenouchi-Kim syndrome|TOKIMS|brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|ZTTKS|ZTTK multiple congenital anomalies-intellectual disability syndrome UMLS:C4310696|Orphanet:500150|OMIM:617140 owl:Class MONDO:0013626 biolink:NamedThing psoriasis 14, pustular Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. tmpak2llvmy_mondo_relaxed.owl acrodermatitis continua of Hallopeau|Interleukin 36 receptor antagonist deficiency|DITRA|deficiency of IL-36R antagonist|familial generalized pustular psoriasis|deficiency of the interleukin-36 receptor antagonist|PSORS14|psoriasis 14, pustular|PSORP|GPP|palmoplantar pustulosis|acrodermatitis continua suppurativa of Hallopeau|deficiency of IL-36Ra|psoriasis caused by mutation in IL36RN|generalized pustular psoriasis|IL36RN psoriasis GARD:0012819|ICD10:L40.1|UMLS:CN199965|OMIM:614204|SCTID:238612002|NCIT:C119057|Orphanet:247353|ICD10:L40.2|Orphanet:163931|DOID:0080474|UMLS:CN226196|SCTID:83839005|ICD9:696.1|Orphanet:404546 https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0020385 biolink:NamedThing congenitally uncorrected transposition of the great arteries with coarctation tmpak2llvmy_mondo_relaxed.owl TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation Orphanet:99042|ICD10:Q20.3 owl:Class MONDO:0011982 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3|AITD3 OMIM:608175 Editor note: TODO check causative gene; check ORDO synonyms owl:Class HGNC:13806 biolink:NamedThing NEUROG3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015600 biolink:NamedThing X-linked intellectual disability, Cilliers type X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). tmpak2llvmy_mondo_relaxed.owl X-linked intellectual disability-microcephaly-testicular failure syndrome UMLS:CN226710|SCTID:719013004|ICD10:Q87.8|Orphanet:163971 owl:Class MONDO:0007235 biolink:NamedThing branchiooculofacial syndrome Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. tmpak2llvmy_mondo_relaxed.owl branchio-oculo-facial syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|Bof syndrome|branchiooculofacial syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|BOFS SCTID:449821007|DOID:0050691|ICD10:Q18.8|GARD:0003212|Orphanet:1297|ICD9:759.89|OMIM:113620 https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome owl:Class MONDO:0009901 biolink:NamedThing Bartsocas-Papas syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. tmpak2llvmy_mondo_relaxed.owl autosomal recessive popliteal pterygium syndrome|popliteal pterygium syndrome lethal type|Bartsocas Papas syndrome|lethal popliteal pterygium syndrome|popliteal pterygium syndrome, Bartsocas-Papas type|Bartsocas-Papas syndrome|pterygium popliteal lethal type|pterygium, popliteal, lethal type|BPS|popliteal pterygium syndrome, lethal type|multiple pterygium syndrome, Aslan type OMIM:263650|SCTID:722376008|MESH:C564874|GARD:0004436|ICD10:Q87.2|Orphanet:1234|UMLS:C1849718 owl:Class GO:0050953 biolink:NamedThing sensory perception of light stimulus The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004924 biolink:NamedThing chronic canaliculitis Chronic form of actinomycosis. tmpak2llvmy_mondo_relaxed.owl actinomycosis, chronic|chronic actinomycosis SCTID:26479009|ICD9:375.41|DOID:9936|UMLS:C0155240|ICD10:H04.42 owl:Class MONDO:0017103 biolink:NamedThing encephaloclastic disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227080|Orphanet:269190 owl:Class MONDO:0100165 biolink:NamedThing permanent neonatal diabetes mellitus 1 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. tmpak2llvmy_mondo_relaxed.owl PNDM1|diabetes mellitus, permanent, of infancy|PDMI OMIM:606176 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0015145 biolink:NamedThing pes hair A strand of hair that is part of a pes. tmpak2llvmy_mondo_relaxed.owl foot hair|hind foot hair|hind paw hair|hair of foot owl:Class UBERON:0009133 biolink:NamedThing pleuroperitoneal membrane A fold of tissue which extends into the peritoneal cavity of the developing embryo and participates in the separation of the pleural and peritoneal cavities. tmpak2llvmy_mondo_relaxed.owl pleuroperitoneal membranes|pleuroperitoneal fold owl:Class GO:0015926 biolink:NamedThing glucosidase activity Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010522 biolink:NamedThing Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). tmpak2llvmy_mondo_relaxed.owl Reading disability SNOMEDCT_US:52824009|SNOMEDCT_US:9236007|SNOMEDCT_US:59770006|MSH:D004410|UMLS:C0476254 peter 2009-09-20T11:19:24Z HP:0006871 human_phenotype owl:Class HP:0001328 biolink:NamedThing Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025790 The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. HP:0007234 human_phenotype owl:Class MONDO:0006570 biolink:NamedThing lichen disease A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin. tmpak2llvmy_mondo_relaxed.owl lichen condition|lichen DOID:8574|ICD9:697.9|ICD9:697.8|SCTID:88996004|ICD9:697|ICD10:L28.0|EFO:1000724|UMLS:C0023643 owl:Class GO:0022836 biolink:NamedThing gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007332 biolink:NamedThing split-hand/foot malformation with long bone deficiency 1 tmpak2llvmy_mondo_relaxed.owl SHFLD|split-hand/foot malformation with long bone deficiency|ectrodactyly with aplasia of long bones|SHFLD1|cleft hand absent tibia|cleft hand and absent tibia|split-hand/foot malformation with long bone deficiency 1|aplasia of tibia with ectrodactyly|tibial aplasia with split-hand/split-foot deformity|split-hand-foot malformation with long bone deficiency|tibial aplasia with split-hand-split-foot deformity MESH:C536425|OMIM:119100 owl:Class MONDO:0018050 biolink:NamedThing tibial aplasia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency|TH-SHFM|SHFM associated with aplasia of long bones|split-hand/foot malformation associated with aplasia of long bones|ectrodactyly with aplasia of long bones|aplasia of tibia with split-hand/split-foot deformity|split hand/foot malformation with long bone deficiency|SHFLD syndrome|tibial hemimelia with split hand/foot malformation|tibial hemimelia-ectrodactyly syndrome|aplasia of tibia with ectrodactyly|SHFLD|tibial aplasia with split-hand/split-foot deformity GARD:0001369|Orphanet:3329|ICD10:Q73.8 https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia owl:Class MONDO:0000244 biolink:NamedThing endothrix infectious disease A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. tmpak2llvmy_mondo_relaxed.owl DOID:0050105 owl:Class MONDO:0000253 biolink:NamedThing piedra Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. tmpak2llvmy_mondo_relaxed.owl hair shaft fungal infectious disease|White piedra|Piedras, black|piedra, black|steroid-modified tinea infection|White Piedras|Piedras|Piedras, White|black piedra|piedra, White|black Piedras MESH:D010854|SCTID:402135006|UMLS:C0031898 owl:Class MONDO:0021663 biolink:NamedThing sarcomatoid squamous cell carcinoma A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. tmpak2llvmy_mondo_relaxed.owl epidermoid spindle cell carcinoma|squamous cell spindle cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell carcinoma, sarcomatoid|squamous cell carcinoma, spindle cell|sarcomatoid squamous cell carcinoma SCTID:403900000|NCIT:C27084|ICDO:8074/3|ICD9:199.1 owl:Class MONDO:0009722 biolink:NamedThing Bailey-Bloch congenital myopathy Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. tmpak2llvmy_mondo_relaxed.owl congenital myopathy - cleft palate - malignant hyperthermia|NAM|Bailey-Bloch congenital myopathy|congenital myopathy cleft palate and malignant hyperthermia|myopathy, congenital, with cleft palate and malignant hyperthermia|STAC3 disorder|congenital myopathy-cleft palate-malignant hyperthermia syndrome|Native American myopathy Orphanet:168572|OMIM:255995|UMLS:C1850625|ICD10:G71.2|GARD:0008432|MESH:C538343|DOID:0060346|SCTID:723439002 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class MONDO:0013038 biolink:NamedThing CLOVES syndrome CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. tmpak2llvmy_mondo_relaxed.owl CLOVES syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|CLOVE syndrome|congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome GARD:0010939|UMLS:C2752042|ICD10:Q87.3|Orphanet:140944|SCTID:719475006|MESH:C567863|OMIM:612918|DOID:0080351|GARD:10939 owl:Class CHEBI:25213 biolink:NamedThing metal cation tmpak2llvmy_mondo_relaxed.owl metal cations|a metal cation owl:Class UBERON:0003291 biolink:NamedThing meninx of hindbrain A meninx that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl rhomencephalon meninges|meninges of hindbrain|hindbrain meninges|hindbrain meninx owl:Class MONDO:0010540 biolink:NamedThing bullous dystrophy, macular type Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. tmpak2llvmy_mondo_relaxed.owl bullous dystrophy hereditary macular type|bullous dystrophy, hereditary macular type|epidermolysis bullosa macular type|epidermolysis bullosa, macular type|EBM ICD10:Q81.8|OMIM:302000|Orphanet:1867|UMLS:C0795974|MESH:C563065|GARD:0001038 https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type owl:Class MONDO:0000148 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related tmpak2llvmy_mondo_relaxed.owl UMLS:CN262497|OMIMPS:614742 See genetic heterogeneity of OMIM 614742. owl:Class ENVO:01000033 biolink:NamedThing oceanic pelagic zone biome The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000023 biolink:NamedThing marine pelagic biome The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012327 biolink:NamedThing autosomal recessive nonsyndromic deafness 46 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 46|DFNB46|autosomal recessive deafness 46|deafness, autosomal recessive 46 MESH:C566459|OMIM:609647|UMLS:C1864815|ICD10:H90.3|DOID:0110503 owl:Class MONDO:0003395 biolink:NamedThing testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. tmpak2llvmy_mondo_relaxed.owl testis granulosa cell tumor|granulosa cell tumor of the testis|testicular granulosa cell tumor|testicular granulosa cell neoplasm|granulosa cell neoplasm of the testis|granulosa cell neoplasm of testis|granulosa cell tumor of testis DOID:5331|EFO:1000567|UMLS:C1336709|NCIT:C6357 owl:Class MONDO:0015947 biolink:NamedThing inherited ichthyosis An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl inherited genetic ichthyosis|hereditary ichthyosis (disease)|congenital ichthyosis of skin|fish scale disease|genetic ichthyosis|fish skin|ichthyosis congenita|congenital ichthyosis ICD9:757.1|Orphanet:183435|MedDRA:10021202|SCTID:13059002|ICD10:Q80 owl:Class NCBITaxon:337677 biolink:NamedThing Cricetidae tmpak2llvmy_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:337687 biolink:NamedThing Muroidea tmpak2llvmy_mondo_relaxed.owl PMID:15371245|GC_ID:1|PMID:15019624 ncbi_taxonomy owl:Class NCBITaxon:693766 biolink:NamedThing Anemiaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017501 biolink:NamedThing congenital absence of both lower leg and foot, bilateral tmpak2llvmy_mondo_relaxed.owl tibiofibular terminal transverse meromelia, bilateral ICD10:Q72.2|ICD10:Q72.23|Orphanet:295099 owl:Class MONDO:0021288 biolink:NamedThing carcinoma in situ of hypopharynx A in situ carcinoma that involves the hypopharynx. tmpak2llvmy_mondo_relaxed.owl stage 0 hypopharyngeal throat cancer|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal cancer|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal carcinoma aJCC v8|stage 0 hypopharyngeal carcinoma in situ|stage 0 carcinoma of the hypopharynx|hypopharynx carcinoma in situ|hypopharynx in situ carcinoma|hypopharyngeal carcinoma in situ|carcinoma in situ of the hypopharynx|carcinoma in situ of hypopharynx|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal carcinoma aJCC v6 UMLS:C4331310|UMLS:C0347100|NCIT:C9101|SCTID:92612007 owl:Class MONDO:0000372 biolink:NamedThing pharynx carcinoma in situ Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of pharynx|carcinoma in situ of the pharynx|stage 0 pharyngeal cancer|pharynx in situ carcinoma|pharyngeal carcinoma in situ|pharyngeal cancer stage 0|stage 0 pharynx carcinoma|pharynx carcinoma in situ|stage 0 carcinoma of pharynx|stage 0 pharyngeal throat cancer|stage 0 pharyngeal carcinoma|stage 0 carcinoma of the pharynx NCIT:C4942|UMLS:C0347098|DOID:0050611|SCTID:92681005 owl:Class MONDO:0009659 biolink:NamedThing mucopolysaccharidosis type 4A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. tmpak2llvmy_mondo_relaxed.owl Morquio disease type A|mucopolysaccharidosis, type 4A|MPS IVA|Morquio syndrome A|N-acetylgalactosamine-6-sulfate sulfatase deficiency|Morquio A disease|MPS4A|GALNS deficiency|mucopolysaccharidosis type IVA|MPSIVA|MPS IV A|MPS 4A|galactosamine-6-sulfatase deficiency|mucopolysaccharidosis type 4A|mucopolysaccharidosis, type IVA SCTID:7259005|ICD10:E76.2|GARD:0003785|NCIT:C84901|OMIM:253000|Orphanet:309297|DOID:0111391 owl:Class MONDO:0012098 biolink:NamedThing spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. tmpak2llvmy_mondo_relaxed.owl SCA20|spinocerebellar ataxia with spasmodic cough|chromosome 11q12 duplication syndrome, 260-Kb|spinocerebellar ataxia with dysphonia|spinocerebellar ataxia 20|spinocerebellar ataxia type 20 ICD10:G11.2|DOID:0050971|UMLS:C1837541|MESH:C537199|OMIM:608687|Orphanet:101110|GARD:0009997|SCTID:718771009 owl:Class MONDO:0011997 biolink:NamedThing Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome with neutropenia|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome 2|HPS2|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Hermansky-Pudlak syndrome type 2|AP3B1 Hermansky-Pudlak syndrome|Platelet defects and oculocutaneous albinism DOID:0060540|Orphanet:183678|GARD:0009435|MESH:C537709|NCIT:C150368|OMIM:608233|UMLS:C1842362|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 owl:Class MONDO:0022458 biolink:NamedThing annular constricting bands A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. tmpak2llvmy_mondo_relaxed.owl GARD:0000704 https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands owl:Class HGNC:9142 biolink:NamedThing PRRX1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002602 biolink:NamedThing annulus pulposus cell tmpak2llvmy_mondo_relaxed.owl anulus pulposus cell tmeehan 2011-03-06T06:50:53Z cell owl:Class MONDO:0011193 biolink:NamedThing cone dystrophy 3 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. tmpak2llvmy_mondo_relaxed.owl retinal cone dystrophy|cone-rod dystrophy 14|cone dystrophy caused by mutation in GUCA1A|COD3|GUCA1A cone dystrophy|cone dystrophy type 3|cone dystrophy 3 DOID:0080314|OMIM:602093|UMLS:C1865869 owl:Class PR:000001483 biolink:NamedThing low affinity immunoglobulin gamma Fc region receptor III tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001355 biolink:NamedThing immunoglobulin gamma Fc receptor II/III/IV tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:59517 biolink:NamedThing DNA synthesis inhibitor Any substance that inhibits the synthesis of DNA. tmpak2llvmy_mondo_relaxed.owl DNA synthesis inhibitors owl:Class CHEBI:76932 biolink:NamedThing pathway inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. tmpak2llvmy_mondo_relaxed.owl metabolic pathway inhibitors|pathway inhibitors|metabolic pathway inhibitor owl:Class GO:0045862 biolink:NamedThing positive regulation of proteolysis Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpak2llvmy_mondo_relaxed.owl stimulation of proteolysis|upregulation of proteolysis|activation of proteolysis|positive regulation of peptidolysis|up-regulation of proteolysis|up regulation of proteolysis owl:Class MONDO:0015744 biolink:NamedThing distal trisomy 19q Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. tmpak2llvmy_mondo_relaxed.owl distal duplication 19q|telomeric duplication 19q|trisomy 19qter|distal trisomy type 19q Orphanet:1717|ICD10:Q92.3|SCTID:766052008 owl:Class MONDO:0014441 biolink:NamedThing Bardet-Biedl syndrome 13 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome type 13|Bardet-Biedl syndrome 13|MKS1 Bardet-Biedl syndrome|BBS13|Bardet-Biedl syndrome caused by mutation in MKS1 OMIM:615990|DOID:0110135|MESH:C567140|UMLS:C2673873|ICD10:Q87.89 owl:Class HGNC:13446 biolink:NamedThing SLC2A9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004638 biolink:NamedThing lymphosarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes. tmpak2llvmy_mondo_relaxed.owl malignant lymphoma (category)|diffuse lymphoma|lymphosarcoma NCIT:C26919|SCTID:188498009|ICD9:200.1|ICD9:200.0|ICD10:C85.9|GARD:0006946|ICD9:200.7|DOID:8675|ICD9:200.10|ICD10:C85.0 https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma owl:Class CHEBI:57977 biolink:NamedThing bilirubin(2-) A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl bilirubin IXalpha|bilirubin dianion|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate owl:Class CHEBI:59252 biolink:NamedThing linear tetrapyrrole anion An organic anion arising from deprotonation of a acyclic tetrapyrrole compound. tmpak2llvmy_mondo_relaxed.owl acyclic tetrapyrrole anions|acyclic tetrapyrrole anion|linear tetrapyrrole anions owl:Class GO:1902668 biolink:NamedThing negative regulation of axon guidance Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance. tmpak2llvmy_mondo_relaxed.owl inhibition of axon pathfinding|negative regulation of axon chemotaxis|negative regulation of axon growth cone guidance|downregulation of axon guidance|downregulation of axon growth cone guidance|down-regulation of axon growth cone guidance|down regulation of axon pathfinding|down regulation of axon chemotaxis|inhibition of axon chemotaxis|down-regulation of axon pathfinding|down-regulation of axon chemotaxis|down-regulation of axon guidance|negative regulation of axon pathfinding|inhibition of axon growth cone guidance|downregulation of axon chemotaxis|downregulation of axon pathfinding|inhibition of axon guidance|down regulation of axon guidance|down regulation of axon growth cone guidance owl:Class MONDO:0012954 biolink:NamedThing colorectal cancer, susceptibility to, 11 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 20P|CRCS11|colorectal cancer, susceptibility to, 11 OMIM:612592 owl:Class MONDO:0017366 biolink:NamedThing hereditary pheochromocytoma-paraganglioma Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). tmpak2llvmy_mondo_relaxed.owl familial pheochromocytoma-paraganglioma|hereditary pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma ICD10:D35.6|UMLS:C1708353|GARD:0011984|ICD10:D35.0|ICD10:C75.5|Orphanet:29072|ICD10:C74.1 https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma owl:Class MONDO:0013923 biolink:NamedThing microcephaly 9, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in CEP152|CEP152 autosomal recessive primary microcephaly|MCPH9|microcephaly 9, primary, autosomal recessive OMIM:614852|DOID:0070292|UMLS:C3553886 owl:Class MONDO:0013691 biolink:NamedThing Feingold syndrome type 2 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. tmpak2llvmy_mondo_relaxed.owl microcephaly-digital anomalies-normal intelligence syndrome type 2|Feingold syndrome type 2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2|FS2|MMT type 2|brachydactyly-short stature-microcephaly syndrome|FGLDS2|Brunner-Winter syndrome type 2|Feingold syndrome 2|brachydactyly with short stature and microcephaly UMLS:C3280489|Orphanet:391646|ICD10:Q87.8|OMIM:614326 owl:Class MONDO:0002863 biolink:NamedThing rhabdomyosarcoma with mixed embryonal and alveolar features A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma. tmpak2llvmy_mondo_relaxed.owl mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma|mixed type rhabdomyosarcoma UMLS:C0334481|UMLS:C1709053|DOID:4065|NCIT:C4259|ICDO:8902/3 owl:Class MONDO:0011668 biolink:NamedThing maturity-onset diabetes of the young type 6 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. tmpak2llvmy_mondo_relaxed.owl neurogenic differentiation Factor 1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1|MODY6|diabetes mellitus MODY type 6|MODY, type 6|maturity-onset diabetes of the young, type 6|MODY NEUROD1 related|NEUROD1-associated monogenic diabetes|NEUROD1 maturity-onset diabetes of the young (disease)|maturity onset diabetes of the Young, type 6|MODY type 6|type 6 maturity-onset diabetes of the young DOID:0111104|SCTID:609573005|NCIT:C129745|MESH:C565231|UMLS:C1853371|GARD:0010660|OMIM:606394 https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 owl:Class MONDO:0017768 biolink:NamedThing reflex epilepsy Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). tmpak2llvmy_mondo_relaxed.owl epilepsy, sensory-induced EFO:1001146|MESH:D020195|UMLS:C0270857|Orphanet:310|ICD9:345.10|ICD10:G40.8|SCTID:79745005|DOID:2548|NCIT:C85041 owl:Class MONDO:0006556 biolink:NamedThing hand dermatosis Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. tmpak2llvmy_mondo_relaxed.owl DOID:3158|MESH:D006229|EFO:1000706|UMLS:C0018567 Editor note: TODO check definition owl:Class MONDO:0010814 biolink:NamedThing chondrodysplasia-pseudohermaphroditism syndrome Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-pseudohermaphroditism syndrome|chondrodysplasia-disorder of sex development syndrome DOID:0060644|ICD10:Q87.1|SCTID:720851007|OMIM:600092|MESH:C536123|Orphanet:1422|UMLS:C1838654 owl:Class MONDO:0013162 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. tmpak2llvmy_mondo_relaxed.owl limb-girdle muscular dystrophy type 2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|MDDGC2|LGMD2N|LGMD-POMT2 related|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy, limb-girdle, type 2N|POMT2 autosomal recessive limb-girdle muscular dystrophy UMLS:C3150418|Orphanet:206559|OMIM:613158|DOID:0110298|ICD10:G71.0|GARD:0012539 owl:Class MONDO:0013839 biolink:NamedThing hereditary sensory and autonomic neuropathy type 6 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. tmpak2llvmy_mondo_relaxed.owl hereditary sensory and autonomic neuropathy caused by mutation in DST|neuropathy, hereditary sensory and autonomic, type VI|HSAN6|familial dysautonomia with contractures|DST hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type 6|HSAN 6|hereditary sensory and autonomic neuropathy type VI UMLS:C3539003|Orphanet:314381|DOID:0070151|OMIM:614653|ICD10:G60.8 owl:Class MONDO:0015632 biolink:NamedThing FASTKD2-related infantile mitochondrial encephalomyopathy tmpak2llvmy_mondo_relaxed.owl ICD10:G71.3|Orphanet:166105 owl:Class MONDO:0032871 biolink:NamedThing leukodystrophy, hypomyelinating, 19, transient infantile tmpak2llvmy_mondo_relaxed.owl LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE|HLD19 OMIM:618688 owl:Class MONDO:0012053 biolink:NamedThing aneurysm, intracranial berry, 2 tmpak2llvmy_mondo_relaxed.owl aneurysm, intracranial BERRY, 2|ANIB2 OMIM:608542|UMLS:C1837894|GARD:0010033|MESH:C536360 owl:Class HGNC:19185 biolink:NamedThing FRAS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010376 biolink:NamedThing pancreas ventral primordium tmpak2llvmy_mondo_relaxed.owl ventral pancreas owl:Class GO:0001809 biolink:NamedThing positive regulation of type IV hypersensitivity Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl activation of type IV hypersensitivity|up regulation of type IV hypersensitivity|upregulation of type IV hypersensitivity|stimulation of type IV hypersensitivity|up-regulation of type IV hypersensitivity owl:Class MONDO:0007741 biolink:NamedThing congenital hydronephrosis Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. tmpak2llvmy_mondo_relaxed.owl ICD9:753.29|ICD10:Q62.0|NCIT:C102979|MedDRA:10050975|UMLS:C0266316|SCTID:16297002|Orphanet:2190 Editor note: TODO check relationship to OMIM:143400 owl:Class MONDO:0005510 biolink:NamedThing hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. tmpak2llvmy_mondo_relaxed.owl EFO:0005562|UMLS:C0020295|SCTID:43064006|NCIT:C26796|ICD9:591|MESH:D006869|DOID:11111|ICD10:N13.30 owl:Class MONDO:0002518 biolink:NamedThing gallbladder papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present. tmpak2llvmy_mondo_relaxed.owl gallbladder papillary neoplasm|intracystic papillary neoplasm|gallbladder papillomatosis|gall bladder papillary epithelial neoplasm UMLS:C1333754|NCIT:C7130|DOID:3120 owl:Class MONDO:0015391 biolink:NamedThing nasopharyngeal teratoma A teratoma that involves the nasopharynx. tmpak2llvmy_mondo_relaxed.owl nasopharynx teratoma|teratoma of the nasopharynx Orphanet:141107|UMLS:C4531264|ICD10:D10.6 owl:Class UBERON:0003591 biolink:NamedThing lobar bronchus connective tissue A portion of connective tissue that is part of a lobar bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of secondary bronchus|connective tissue of lobar bronchus owl:Class UBERON:0000114 biolink:NamedThing lung connective tissue the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin tmpak2llvmy_mondo_relaxed.owl lung interstitial tissue|lung interstitium|connective tissue of lung|pulmonary interstitium|pulmonary interstitial tissue|pulmonary connective tissue owl:Class MONDO:0005319 biolink:NamedThing humerus fracture A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. tmpak2llvmy_mondo_relaxed.owl humeral fracture|fractures, humeral|fracture, humeral MESH:D006810|EFO:0003943|SCTID:66308002 owl:Class MONDO:0009313 biolink:NamedThing Grubben-de Cock-Borghgraef syndrome Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. tmpak2llvmy_mondo_relaxed.owl growth retardation, small and puffy hands and feet, and eczema|developmental delay-hypotonia-extremities hypertrophy syndrome|developmental delay - hypotonia - extremities hypertrophy|Grubben de Cock Borghgraef syndrome|severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin UMLS:C2931551|OMIM:233810|ICD10:Q87.8|GARD:0002576|Orphanet:2101|MESH:C537621 https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome owl:Class MONDO:0025371 biolink:NamedThing Parvoviridae infectious disease Virus infections caused by the parvoviridae. tmpak2llvmy_mondo_relaxed.owl Parvoviridae infection|infection, Parvoviridae|infection, Parvovirus|Parvovirus infection|disease caused by Parvoviridae|disease due to Parvoviridae|Parvoviridae disease or disorder|Parvovirus infections|Parvoviridae caused disease or disorder|infections, Parvovirus|infections, Parvoviridae SCTID:83223005|MESH:D010322|ICD9:078.89 owl:Class MONDO:0007808 biolink:NamedThing ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). tmpak2llvmy_mondo_relaxed.owl IHCM|ichthyosis hystrix, Curth Macklin type|ichthyosis HYSTRIX, Curth-Macklin type|ichthyosis hystrix, Curth-Macklin type|Curth-Macklin type ichthyosis hystrix ICD10:Q80.8|Orphanet:79503|OMIM:146590|GARD:0002954|SCTID:254170001|UMLS:C1840296|MESH:C536088|ICD9:757.39 owl:Class GO:0071705 biolink:NamedThing nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014392 biolink:NamedThing developmental and epileptic encephalopathy, 25 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 25|SLC13A5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy 25|DEE25|developmental and epileptic encephalopathy, 25|EIEE25|early infantile epileptic encephalopathy caused by mutation in SLC13A5|epileptic encephalopathy, early infantile, type 25|SLC13A5 deficiency DOID:0080453|OMIM:615905|UMLS:C4014621|GARD:0012901 https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25 owl:Class MONDO:0014399 biolink:NamedThing ataxia-telangiectasia-like disorder 2 tmpak2llvmy_mondo_relaxed.owl ataxia-telangiectasia-like disorder type 2|PCNA-related progressive neurodegenerative photosensitivity syndrome|ATLD2|ataxia-telangiectasia-like disorder 2 UMLS:C4014676|ICD10:G11.3|OMIM:615919|Orphanet:438134 owl:Class HGNC:20303 biolink:NamedThing SLC30A8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006222 biolink:NamedThing gastric choriocarcinoma A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. tmpak2llvmy_mondo_relaxed.owl gastric choriocarcinoma UMLS:C2987398|NCIT:C95749|EFO:1000269 owl:Class MONDO:0002075 biolink:NamedThing spontaneous tension pneumothorax tmpak2llvmy_mondo_relaxed.owl UMLS:C0155907|DOID:1672|SCTID:196102003|ICD9:512.0|ICD10:J93.0 owl:Class MONDO:0002076 biolink:NamedThing pneumothorax Abnormal presence of air in the pleural cavity. tmpak2llvmy_mondo_relaxed.owl pneumothorax|pneumothorax (disease) pneumothorax (disease) NCIT:C38006|MESH:D011030|DOID:1673|ICD10:J93.1|SCTID:36118008|HP:0002107|ICD9:512.8 owl:Class MONDO:0008860 biolink:NamedThing beta-aminoisobutyric acid, urinary excretion of tmpak2llvmy_mondo_relaxed.owl BAIBA|BETA-aminoisobutyric aciduria|Beta-aminoisobutyric aciduria|hyper-Beta-aminoisobutyric aciduria|Baib urinary excretion|beta-aminoisobutyric acid, urinary excretion of UMLS:C1859518|MESH:C565904|OMIM:210100 owl:Class UBERON:0005704 biolink:NamedThing secondary palatal shelf mesenchyme Mesenchyme that is part of a developing secondary palatal shelf. tmpak2llvmy_mondo_relaxed.owl palatal shelf mesenchyme owl:Class HGNC:4798 biolink:NamedThing HABP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016522 biolink:NamedThing cavity of right atrium luminal space of the right atrium of the heart. tmpak2llvmy_mondo_relaxed.owl right atrial cavity owl:Class MONDO:0011954 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 4|CMM4 OMIM:608035 owl:Class UBERON:0009709 biolink:NamedThing ventral pancreas tmpak2llvmy_mondo_relaxed.owl pancreatis ventralis owl:Class HGNC:4979 biolink:NamedThing MNX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MAXO:0000058 biolink:NamedThing pharmacotherapy Use of a substance introduced into a living organism with therapeutic or diagnostic purpose. tmpak2llvmy_mondo_relaxed.owl drug therapy|pharmacological treatment|drug treatment|treatment with drug|pharmaceutical drug|medication therapy|pharmaceutical treatment owl:Class MONDO:0012786 biolink:NamedThing juvenile cataract-microcornea-renal glucosuria syndrome Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. tmpak2llvmy_mondo_relaxed.owl cataract, juvenile, with microcornea and glucosuria, formerly|CTRCT47|juvenile cataract-microcornea-renal glucosuria syndrome|cataract, juvenile, with microcornea|cataract 47|CJMG|cataract, juvenile, with microcornea and glucosuria UMLS:C2677587|Orphanet:247794|OMIM:612018|DOID:0070353|MESH:C567434|SCTID:722457005 owl:Class MONDO:0017904 biolink:NamedThing steroid dehydrogenase deficiency-dental anomalies syndrome Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. tmpak2llvmy_mondo_relaxed.owl Lyngstadaas syndrome|severe dental aberrations in familial steroid dehydrogenase deficiency|steroid dehydrogenase deficiency dental anomalies MESH:C537490|GARD:0005015|Orphanet:3196|UMLS:C2931508|ICD10:K76.8|SCTID:723583009 owl:Class GO:0030336 biolink:NamedThing negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. tmpak2llvmy_mondo_relaxed.owl down regulation of cell migration|downregulation of cell migration|down-regulation of cell migration|inhibition of cell migration owl:Class NCBITaxon:121222 biolink:NamedThing Pediculus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:121221 biolink:NamedThing Pediculidae tmpak2llvmy_mondo_relaxed.owl body lice|primate body lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004345 biolink:NamedThing childhood malignant schwannoma A malignant peripheral nerve sheath tumor occurring in children. tmpak2llvmy_mondo_relaxed.owl pediatric MPNST|childhood malignant schwannoma|childhood malignant neoplasm of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|pediatric malignant neoplasm of the peripheral nerve sheath|childhood malignant tumor of the peripheral nerve sheath|childhood MPNST|pediatric malignant neurilemmoma|childhood neurofibrosarcoma|childhood malignant tumor of peripheral nerve sheath|childhood neurogenic sarcoma|childhood malignant peripheral nerve sheath neoplasm|pediatric malignant schwannoma|pediatric malignant neoplasm of peripheral nerve sheath|childhood malignant peripheral nerve sheath tumor|childhood malignant neurilemmoma|pediatric malignant tumor of peripheral nerve sheath|childhood malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|pediatric malignant peripheral nerve sheath neoplasm|pediatric malignant tumor of the peripheral nerve sheath NCIT:C8094|DOID:7732|UMLS:C0279987 owl:Class MONDO:0003611 biolink:NamedThing uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences. tmpak2llvmy_mondo_relaxed.owl uterine ligament papillary cystadenoma|uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease UMLS:C3642324|DOID:5726|NCIT:C40142 owl:Class MONDO:0009126 biolink:NamedThing duodenal atresia Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. tmpak2llvmy_mondo_relaxed.owl duodenal atresia|congenital duodenal atresia|duodenal stenosis|congenital atresia of duodenum|duodenal atresia (disease)|atresia of duodenum duodenal atresia (disease) GARD:0000054|ICD10:Q41.0|HP:0002247|NCIT:C101025|SCTID:51118003|Orphanet:1203|UMLS:C0266174|OMIM:223400|MedDRA:10013812|ICD9:751.1|MESH:C535720|DOID:0080216 owl:Class MONDO:0014764 biolink:NamedThing spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. tmpak2llvmy_mondo_relaxed.owl SPPRS syndrome|spastic paraplegia-psychomotor retardation-seizures syndrome|spastic paraplegia and psychomotor retardation with or without seizures|SPPRS UMLS:C4225215|Orphanet:464282|OMIM:616756 owl:Class MONDO:0011048 biolink:NamedThing epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. tmpak2llvmy_mondo_relaxed.owl epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face|mental retardation, microcephaly, epilepsy, and coarse face|Battaglia-Neri syndrome Orphanet:1948|GARD:0000836|OMIM:601352|ICD10:Q87.8 owl:Class MONDO:0009366 biolink:NamedThing normal pressure hydrocephalus A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) tmpak2llvmy_mondo_relaxed.owl chronic adult hydrocephalus|NPH|low pressure hydrocephalus|hydrocephalus, normal-pressure EFO:1001065|Orphanet:314928|MESH:D006850|OMIM:236690|ICD10:G91.2|MedDRA:10029773|UMLS:C0020258|ICD9:331.5|DOID:1572|SCTID:30753002 owl:Class MONDO:0002045 biolink:NamedThing communicating hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. tmpak2llvmy_mondo_relaxed.owl non-obstructive hydrocephalus UMLS:C0009451|NCIT:C34501|ICD9:331.3|DOID:1573|SCTID:271569006|ICD10:G91.0 owl:Class MONDO:0007098 biolink:NamedThing ACys amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. tmpak2llvmy_mondo_relaxed.owl cerebral hemorrhage, hereditary, with amyloidosis|amyloidosis, Cerebroarterial, Icelandic type|hereditary cerebral hemorrhage with amyloidosis|HCHWA, Icelandic type|amyloidosis 6|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|hereditary cystatin C amyloid angiopathy|cystatin amyloidosis|cerebral amyloid angiopathy, CST3-related|amyloidosis VI|CST3-related cerebral amyloid angiopathy|CST3-related amyloidosis SCTID:703220002|ICD9:437.8|ICD10:I68.0*|Orphanet:100008|OMIM:105150|ICD9:277.39|ICD10:E85.4+|DOID:0070027 owl:Class NCBITaxon:2702 biolink:NamedThing Gardnerella vaginalis tmpak2llvmy_mondo_relaxed.owl Haemophilus vaginalis|Haemophilus hemolyticus vaginalis|Corynebacterium vaginale PMID:14361525|PMID:8782675|GC_ID:11 ncbi_taxonomy owl:Class GO:0099513 biolink:NamedThing polymeric cytoskeletal fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020405 biolink:NamedThing straddling and/or overriding mitral valve tmpak2llvmy_mondo_relaxed.owl Orphanet:99064|ICD10:Q23.8 owl:Class MONDO:0019818 biolink:NamedThing cleft mitral valve tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.3|Orphanet:95465 owl:Class MONDO:0018858 biolink:NamedThing Graham Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. tmpak2llvmy_mondo_relaxed.owl Piccardi-Lassueur-Little syndrome|Graham Little syndrome|Graham-Little-Piccardi-Lassueur syndrome GARD:0003195|ICD10:L66.1|Orphanet:505|UMLS:CN205176|SCTID:718215008 https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome owl:Class MONDO:0014904 biolink:NamedThing congenital disorder of glycosylation, type IAA tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation, type IAA|congenital disorder of glycosylation, type IAA; CDG1AA|CDG1AA OMIM:617082|UMLS:C4310727|DOID:0080553 owl:Class GO:0000272 biolink:NamedThing polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpak2llvmy_mondo_relaxed.owl polysaccharide breakdown|polysaccharide catabolism|multicellular organismal polysaccharide catabolic process|polysaccharide degradation owl:Class HGNC:4173 biolink:NamedThing GATA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014129 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|LGMD2R|muscular dystrophy, limb-girdle, type 2R|DES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES UMLS:C3809137|OMIM:615325|Orphanet:363543|DOID:0110286|ICD10:G71.0 owl:Class MONDO:0007144 biolink:NamedThing aortic arch interruption, facial palsy, and retinal coloboma tmpak2llvmy_mondo_relaxed.owl aortic arch interruption, facial palsy, and retinal coloboma MESH:C566271|UMLS:C1862681|OMIM:107550 owl:Class MONDO:0018045 biolink:NamedThing Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. tmpak2llvmy_mondo_relaxed.owl progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Hoyeraal Hreidarsson syndrome|Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia GARD:0000346|SCTID:707276009|UMLS:C1846142|Orphanet:3322|ICD10:D61.0|MESH:C536068 owl:Class MONDO:0012209 biolink:NamedThing branchiogenic deafness syndrome Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. tmpak2llvmy_mondo_relaxed.owl MC)garbanC)-Loiselet syndrome|BRANCHIOGENIC-deafness syndrome|Mégarbané-Loiselet syndrome ICD10:Q87.0|SCTID:717944002|MESH:C563780|Orphanet:50815|UMLS:C1836673|OMIM:609166 owl:Class CHEBI:38338 biolink:NamedThing aminopyrimidine A member of the class of pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives. tmpak2llvmy_mondo_relaxed.owl aminopyrimidines owl:Class MONDO:0009538 biolink:NamedThing lymphoid system deterioration, progressive tmpak2llvmy_mondo_relaxed.owl lymphoid system deterioration, progressive UMLS:C1855473|OMIM:247630|MESH:C565430 owl:Class MONDO:0019830 biolink:NamedThing congenital anomaly of the inferior vena cava tmpak2llvmy_mondo_relaxed.owl congenital anomaly of the inferior caval vein|congenital anomaly of the IVC Orphanet:95499|ICD9:747.49|SCTID:81577001|ICD10:Q26.9 owl:Class MONDO:0007542 biolink:NamedThing Camurati-Engelmann disease Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. tmpak2llvmy_mondo_relaxed.owl CAEND|progressive diaphyseal dysplasia|DPD1|Engelmann disease|Engelman's disease|Camurati-Engelmann syndrome|Camurati-Engelmann disease|diaphyseal dysplasia|CED|Camurati-Englemann disease|diaphyseal dysplasia 1, progressive GARD:0001072|ICD10:Q78.3|NCIT:C84610|Orphanet:1328|SCTID:318761000119105|DOID:4997|UMLS:C0011989|ICD9:756.59|OMIM:131300 owl:Class MONDO:0015638 biolink:NamedThing benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. tmpak2llvmy_mondo_relaxed.owl ICD10:G40.2|Orphanet:166299|UMLS:CN226717 owl:Class MONDO:0015637 biolink:NamedThing benign non-familial infantile seizures tmpak2llvmy_mondo_relaxed.owl Orphanet:166295|ICD10:G40.4|UMLS:CN226716 owl:Class MONDO:0032621 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 16 tmpak2llvmy_mondo_relaxed.owl MC1DN16|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 OMIM:618238 owl:Class MONDO:0044079 biolink:NamedThing cardio-renal syndrome A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. tmpak2llvmy_mondo_relaxed.owl Renocardiac syndromes|Reno Cardiac syndrome|syndromes, cardio-renal|cardiorenal syndromes|cardio renal syndrome|Reno-Cardiac syndrome|syndrome, Renocardiac|Reno-Cardiac syndromes|syndrome, Reno-Cardiac|syndromes, Reno-Cardiac|cardio-renal syndromes|syndromes, Renocardiac|syndrome, cardio-renal|cardiorenal syndrome|Renocardiac syndrome|syndrome, cardiorenal|syndromes, cardiorenal EFO:1001262|UMLS:C2242703|NCIT:C123225|MESH:D059347|SCTID:445236007 owl:Class MONDO:0005252 biolink:NamedThing heart failure Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. tmpak2llvmy_mondo_relaxed.owl heart failure|cardiac failure|insufficiency, Cardiac|failure, heart|cardiac insufficiency SCTID:84114007|EFO:0003144|MESH:D006333|UMLS:CN236639|NCIT:C50577|ICD9:428.9|ICD9:428 owl:Class UBERON:0003529 biolink:NamedThing respiratory system lymphatic vessel endothelium An lymphatic vessel endothelium that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lymph vessel endothelium of apparatus respiratorius|apparatus respiratorius endothelium of lymph vessel|lymph vessel endothelium of respiratory system|apparatus respiratorius lymphatic vessel endothelium|lymphatic vessel endothelium of apparatus respiratorius|respiratory system lymph vessel endothelium|endothelium of lymph vessel of apparatus respiratorius|respiratory system endothelium of lymph vessel|endothelium of lymph vessel of respiratory system|lymphatic vessel endothelium of respiratory system|apparatus respiratorius lymph vessel endothelium|respiratory system lymphatic vessel endothelium owl:Class MONDO:0014213 biolink:NamedThing intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 21|mental retardation, autosomal dominant type 21|mental retardation, autosomal dominant 21|intellectual disability, autosomal dominant type 21|MRD21|autosomal dominant non-syndromic intellectual disability 21|intellectual disability, autosomal dominant 21|autosomal dominant mental retardation 21 OMIM:615502|UMLS:C3809686|ICD10:Q87.8|DOID:0070051|Orphanet:363611 owl:Class MONDO:0015340 biolink:NamedThing drug rash with eosinophilia and systemic symptoms DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. tmpak2llvmy_mondo_relaxed.owl dress syndrome|drug reaction eosinophilic systemic syndrome SCTID:702809001|MedDRA:10058919|MESH:D063926|Orphanet:139402 owl:Class MONDO:0011680 biolink:NamedThing autosomal recessive congenital ichthyosis 3 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene. tmpak2llvmy_mondo_relaxed.owl ichthyosis, lamellar, 5, formerly|lamellar ichthyosis 5|ARCI3|ichthyosis, congenital, autosomal recessive 3|ichthyosis, congenital, autosomal recessive type 3|ichthyosis, lamellar, 5|collodion baby, self-healing|autosomal recessive congenital ichthyosis type 3 MESH:C564699|DOID:0060711|OMIM:606545|ICD10:Q80.2 owl:Class HGNC:2955 biolink:NamedThing DNAL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021923 biolink:NamedThing Arroyo Garcia Cimadevilla syndrome A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl bilateral anophthalmia, esophageal atresia, and right cryptorchidism GARD:0000771|MESH:C537439|UMLS:C2931494 https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome owl:Class MONDO:0014906 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B|Charcot-Marie-Tooth disease type 2A2B|CMT2A2B DOID:0111557|UMLS:C4310725|NCIT:C150647|OMIM:617087 owl:Class MONDO:0006722 biolink:NamedThing dental fluorosis A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. tmpak2llvmy_mondo_relaxed.owl fluorosis|mottled teeth|mottling of enamel|intrinsic enamel discolouration of fluorosis UMLS:C0026618|ICD9:520.3|EFO:1000892|ICD10:K00.3|NCIT:C85059|MedDRA:10016819|MESH:D009050|DOID:13711|SCTID:30265004 owl:Class HGNC:1665 biolink:NamedThing SCARB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005388 biolink:NamedThing primary biliary cholangitis Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. tmpak2llvmy_mondo_relaxed.owl cholestatic cirrhosis|biliary liver cirrhosis|PBC|Hanot syndrome|primary Bilary cirrhosis (PBC)|primary biliary cirrhosis|chronic nonsuppurative destructive cholangitis|chronic non-suppurative destructive cholangitis|biliary cirrhosis, primary|familial primary biliary cirrhosis MedDRA:10019137|MedDRA:10004661|SCTID:31712002|ICD9:571.6|OMIMPS:109720|MESH:D008105|ICD10:K74.3|DOID:12236|Orphanet:186|NCIT:C27167|ICD10:K74.5|EFO:0004267|GARD:0007459|UMLS:C0008312 owl:Class MONDO:0018228 biolink:NamedThing bipartite talus Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. tmpak2llvmy_mondo_relaxed.owl Orphanet:364198|ICD10:Q66.8|UMLS:CN227287|SCTID:763128009 owl:Class MONDO:0002928 biolink:NamedThing carcinosarcoma A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. tmpak2llvmy_mondo_relaxed.owl mixed Mullerian tumor|mesodermal mixed tumor (morphologic abnormality)|malignant mixed mesodermal (mullerian) tumor|carcinosarcoma|mixed tumor, Mullerian|mesodermal mixed tumor|MMMT|malignant mixed Mullerian tumor|mullerian mixed tumor (morphologic abnormality)|mullerian mixed tumor|carcinosarcoma, malignant|mixed mesodermal (mullerian) tumor MESH:D002296|UMLS:C1334603|ICDO:8980/3|GARD:0006966|UMLS:C0007140|DOID:4236|NCIT:C34448|UMLS:C0206627 owl:Class MONDO:0017597 biolink:NamedThing T-cell/histiocyte rich large B cell lymphoma T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl T-cell/histiocyte rich lymphoma|T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte-rich large B-cell lymphoma|THRLBCL ICD10:C83.3|GARD:0012257|NCIT:C9496|Orphanet:300857|UMLS:C1321547|ONCOTREE:THRLBCL|ICDO:9688/3|ICDO:9680/3 https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma owl:Class MONDO:0015769 biolink:NamedThing distal trisomy 6p Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. tmpak2llvmy_mondo_relaxed.owl trisomy 6pter|telomeric duplication 6p|distal trisomy type 6p|distal duplication 6p ICD10:Q92.3|SCTID:722430008|Orphanet:1745|UMLS:C4302551 owl:Class MONDO:0020820 biolink:NamedThing distal arthrogryposis type 2B1 tmpak2llvmy_mondo_relaxed.owl DA2B1 DOID:0111600|OMIM:601680 owl:Class MONDO:0015697 biolink:NamedThing immunoglobulin heavy chain deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:169110|SCTID:234539005|ICD9:279.03|UMLS:C0398692|ICD10:D80.8 owl:Class MONDO:0018878 biolink:NamedThing branchiootic syndrome Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). tmpak2llvmy_mondo_relaxed.owl bor|branchiootic dysplasia|bo syndrome ICD10:Q87.0|UMLS:CN205225|SCTID:764810000|GARD:0010148|DOID:0060232|Orphanet:52429 owl:Class MONDO:0032670 biolink:NamedThing Diamond-Blackfan anemia 20 tmpak2llvmy_mondo_relaxed.owl DIAMOND-BLACKFAN ANEMIA 20|DBA20 OMIM:618313 owl:Class MONDO:0014653 biolink:NamedThing retinitis pigmentosa 72 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene. tmpak2llvmy_mondo_relaxed.owl ZNF408 retinitis pigmentosa|retinitis pigmentosa type 72|retinitis pigmentosa 72|RP72|retinitis pigmentosa caused by mutation in ZNF408 OMIM:616469|UMLS:C4225315|DOID:0110395|ICD10:H35.5 owl:Class MONDO:0016183 biolink:NamedThing qualitative or quantitative defects of protein glycosyltransferase-like tmpak2llvmy_mondo_relaxed.owl Orphanet:209027 owl:Class MONDO:0010826 biolink:NamedThing childhood absence epilepsy Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. tmpak2llvmy_mondo_relaxed.owl absence seizure|petit mal seizure|pyknolepsy OMIMPS:600131|ICD10:G40.3|ICD10:G40.A|DOID:1825|Orphanet:64280|SCTID:50866000 owl:Class MONDO:0021453 biolink:NamedThing benign neoplasm of retina A benign neoplasm that involves the retina. tmpak2llvmy_mondo_relaxed.owl benign tumor of the retina|benign retina tumor|benign tumor of retina|benign retinal tumor|retina benign neoplasm|benign retina neoplasm|benign neoplasm of the retina|benign retinal neoplasm ICD9:224.5|SCTID:92321003|NCIT:C3624|UMLS:C0154027 owl:Class MONDO:0013707 biolink:NamedThing intellectual disability, autosomal recessive 24 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 24|MRT24|intellectual disability, autosomal recessive 24 OMIM:614345|UMLS:C3280543 owl:Class MONDO:0010418 biolink:NamedThing hereditary spastic paraplegia 34 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. tmpak2llvmy_mondo_relaxed.owl X-linked spastic paraplegia type 34|X-linked spastic paraplegia 34|spastic paraplegia 34, X-linked|hereditary spastic paraplegia type 34|SPG34 UMLS:C2677897|OMIM:300750|MESH:C567465|Orphanet:171607|SCTID:763370008|ICD10:G11.4|DOID:0110785 owl:Class MONDO:0017912 biolink:NamedThing X-linked pure spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Orphanet:320332|ICD10:G11.4 owl:Class GO:0050772 biolink:NamedThing positive regulation of axonogenesis Any process that activates or increases the frequency, rate or extent of axonogenesis. tmpak2llvmy_mondo_relaxed.owl up regulation of axonogenesis|stimulation of axonogenesis|activation of axonogenesis|upregulation of axonogenesis|up-regulation of axonogenesis owl:Class UBERON:0001810 biolink:NamedThing nerve plexus Anatomical junction where subdivisions of two or more neural trees interconnect with one another to form a network through which nerve fibers of the constituent nerve trees become regrouped; together with other nerve plexuses, nerves and ganglia, it constitutes the peripheral nervous system. Examples: cervical nerve plexus, brachial nerve plexus, sacral nerve plexus[FMA]. tmpak2llvmy_mondo_relaxed.owl plexus owl:Class UBERON:0003714 biolink:NamedThing neural tissue Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. tmpak2llvmy_mondo_relaxed.owl portion of neural tissue|nerve tissue|nervous tissue owl:Class MONDO:0014157 biolink:NamedThing mandibular hypoplasia-deafness-progeroid syndrome tmpak2llvmy_mondo_relaxed.owl mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia-hearing loss-progeroid syndrome|MDPL|MDP syndrome ICD10:E34.8|UMLS:C3715192|GARD:0010989|OMIM:615381|Orphanet:363649 owl:Class HP:0004303 biolink:NamedThing Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. tmpak2llvmy_mondo_relaxed.owl Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibres|Abnormality of muscle fibers|Abnormal skeletal muscle fiber morphology|Abnormal muscle fibre morphology UMLS:C4021663 Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. peter 2008-02-20T12:04:00Z HP:0003706|HP:0011806 human_phenotype owl:Class MONDO:0012591 biolink:NamedThing osteogenesis imperfecta type 5 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI). tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in IFITM5|osteogenesis imperfecta, type 5|OI with calcification in interosseous membranes|osteogenesis imperfecta, type V|OI, type 5|OI type V|type V OI|OI type 5|osteogenesis imperfecta type V|IFITM5 osteogenesis imperfecta|OI5 OMIM:610967|UMLS:C1970414|MESH:C567042|ICD10:Q78.0|GARD:0008699|DOID:0110344|Orphanet:216828 owl:Class MONDO:0009141 biolink:NamedThing torsion dystonia 2 Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. tmpak2llvmy_mondo_relaxed.owl HPCA dystonic disorder|dystonia 2, torsion, autosomal recessive|DYT2|dystonia musculorum deformans type 2|primary dystonia, DYT2 type|torsion dystonia 2, autosomal recessive type|dystonic disorder caused by mutation in HPCA|autosomal recessive torsion dystonia 2|torsion dystonia type 2|dystonia musculorum deformans 2 UMLS:C1857093|MESH:C538006|DOID:0090038|Orphanet:99657|GARD:0002028|ICD10:G24.1|NCIT:C123415|OMIM:224500 owl:Class MONDO:0014413 biolink:NamedThing orofaciodigital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. tmpak2llvmy_mondo_relaxed.owl C2CD3 orofaciodigital syndrome|orofaciodigital syndrome 14|microcephaly-cerebral malformation-orofaciodigital syndrome|oral-facial-digital syndrome type 14|orofaciodigital syndrome XIV|OFD14|orofaciodigital syndrome type 14|orofaciodigital syndrome caused by mutation in C2CD3 ICD10:Q87.0|OMIM:615948|UMLS:C4014780|SCTID:763837007|Orphanet:434179 owl:Class MONDO:0001654 biolink:NamedThing spermatic cord cancer A malignant neoplasm involving the spermatic cord. tmpak2llvmy_mondo_relaxed.owl cancer of spermatic cord|malignant tumor of the spermatic cord|malignant spermatic cord tumor|malignant neoplasm of spermatic cord|spermatic cord Ca|malignant neoplasm of the spermatic cord|malignant spermatic cord neoplasm|spermatic cord cancer|malignant tumor of spermatic cord DOID:13169|SCTID:363453008|UMLS:C0153603|ICD9:187.6|ICD10:C63.1|NCIT:C3559 owl:Class MONDO:0010709 biolink:NamedThing early-onset parkinsonism-intellectual disability syndrome Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. tmpak2llvmy_mondo_relaxed.owl Laxova Brown hogan syndrome|Waisman syndrome|early-onset parkinsonism-intellectual disability syndrome|basal ganglion disorder with mental retardation|Parkinsonism, early-onset, with intellectual disability|X-linked recessive basal ganglia disorder with mental retardation|basal ganglia disorder with mental retardation|basal ganglion disorder with intellectual disability|BGMR|WAISMAN syndrome|X-linked recessive basal ganglia disorder with intellectual disability|basal ganglia disorder with intellectual disability|Parkinsonism, early-onset, with mental retardation|WSMN|Parkinsonism, early onset with intellectual disability|Parkinsonism, early onset with mental retardation|Wsn|Laxova-Opitz syndrome UMLS:C0796195|SCTID:716107009|ICD10:G20|DOID:0111781|OMIM:311510|Orphanet:2379|MESH:C537179|GARD:0003203 owl:Class GO:0004867 biolink:NamedThing serine-type endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. tmpak2llvmy_mondo_relaxed.owl serpin activity|serine proteinase inhibitor activity|serine protease inhibitor activity owl:Class UBERON:0010498 biolink:NamedThing pseudostratified columnar epithelium A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004262 biolink:NamedThing upper leg skin A zone of skin that is part of a hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of thigh|skin of upper leg|hindlimb stylopod skin|thigh skin|hind limb stylopod skin owl:Class UBERON:0001511 biolink:NamedThing skin of leg A zone of skin that is part of a leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl leg zone of skin|leg skin|zone of skin of leg owl:Class MONDO:0010444 biolink:NamedThing X-linked dyserythropoetic anemia with abnormal platelets and neutropenia tmpak2llvmy_mondo_relaxed.owl XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities Orphanet:363727|ICD10:D64.4|OMIM:300835 owl:Class MONDO:0009041 biolink:NamedThing craniosynostosis-intellectual disability-clefting syndrome A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. tmpak2llvmy_mondo_relaxed.owl craniosynostosis intellectual disability clefting syndrome|Baraitser Rodeck garner syndrome|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis mental retardation clefting syndrome|craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis-mental retardation-clefting syndrome GARD:0001599|OMIM:218650|MESH:C537906|UMLS:C2931663|GARD:0000817|MESH:C565663|UMLS:C1857472 owl:Class GO:1905293 biolink:NamedThing negative regulation of neural crest cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of neural crest cell differentiation|down-regulation of neural crest cell differentiation|downregulation of neural crest cell differentiation|down regulation of neural crest cell differentiation owl:Class MONDO:0013412 biolink:NamedThing hypertrophic cardiomyopathy 9 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpak2llvmy_mondo_relaxed.owl CMH9|hypertrophic cardiomyopathy caused by mutation in TTN|cardiomyopathy, familial hypertrophic, type 9|hypertrophic cardiomyopathy type 9|cardiomyopathy, familial hypertrophic, 9|TTN hypertrophic cardiomyopathy OMIM:613765|MESH:C566044|DOID:0110315|UMLS:C1861065 owl:Class CL:0000525 biolink:NamedThing syncytiotrophoblast cell A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy. tmpak2llvmy_mondo_relaxed.owl syncytial trophoblast|plasmidotrophoblast|syntrophoblast FMA:83043 cell owl:Class CL:2000060 biolink:NamedThing placental villous trophoblast A trophoblast of placental villi. These cells fuse to form synctial trophoplast - the placental side of the interface between the placenta and maternal blood sinusoids in the decidua. tmpak2llvmy_mondo_relaxed.owl vCTB|villous cytotrophoblast BTO:0006119|BTO:0006208 Same as synctial trophoblast? TermGenie 2014-10-07T17:48:27Z cell http://www.sciencellonline.com/site/productInformation.php?keyword=7120 owl:Class MONDO:0013438 biolink:NamedThing pontocerebellar hypoplasia type 2D Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene. tmpak2llvmy_mondo_relaxed.owl cerebello-cerebral atrophy, progressive|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS|SEPSECS non-syndromic pontocerebellar hypoplasia|PCH2D|pontocerebellar hypoplasia type 2D|pontocerebellar hypoplasia, type 2D|Cerebellocerebral atrophy, progressive OMIM:613811|UMLS:C3151140|ICD10:Q04.3|DOID:0060270 owl:Class MONDO:0003181 biolink:NamedThing lung adenoid cystic carcinoma A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. tmpak2llvmy_mondo_relaxed.owl adenocystic carcinoma of the lung|adenoid cystic carcinoma of the lung|lung adenocystic carcinoma|lung adenoid cystic cancer|lung adenoid cystic carcinoma|LUACC|pulmonary adenoid cystic carcinoma|pulmonary adenocystic carcinoma|adenocystic carcinoma of lung|adenoid cystic carcinoma of lung UMLS:C1334439|ICD9:162.9|NCIT:C5666|DOID:4872|ONCOTREE:LUACC|SCTID:707466008 owl:Class MONDO:0008545 biolink:NamedThing thalassemia, beta+, silent allele tmpak2llvmy_mondo_relaxed.owl thalassemia, beta+, silent allele MESH:C566065|UMLS:C1861232|OMIM:187550 owl:Class MONDO:0004382 biolink:NamedThing laryngeal disease A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. tmpak2llvmy_mondo_relaxed.owl disorder of larynx|laryngeal disorder|larynx disease|disease of larynx|laryngeal disease|disorder of the larynx|disease or disorder of larynx|larynx disease or disorder ICD10:J38.7|DOID:786|ICD10:S12.8|SCTID:60600009|NCIT:C26810|MESH:D007818|UMLS:C0023051|ICD9:478.70 owl:Class MONDO:0018148 biolink:NamedThing vasoproliferative tumor of retina Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. tmpak2llvmy_mondo_relaxed.owl vasoproliferative tumor of ocular fundus|vasoproliferative tumor of the retina|vasoproliferative tumor of the ocular fundus|retinal vasoproliferative tumor|VPTR ICD10:D31.2|Orphanet:353356|UMLS:CN204546 owl:Class UBERON:0014675 biolink:NamedThing distal interphalangeal joint of pedal digit 5 tmpak2llvmy_mondo_relaxed.owl distal interphalangeal joint of fifth toe|distal interphalangeal joint of pedal digit V|distal interphalangeal joint of little toe|distal interphalangeal joint of fifth digit of foot owl:Class UBERON:0007728 biolink:NamedThing interphalangeal joint of pedal digit 5 An interphalangeal joint of pes that is part of a pedal digit 5. tmpak2llvmy_mondo_relaxed.owl interphalangeal joint of pedal digit V|interphalangeal joint of little toe|interphalangeal joint of fifth digit of foot|interphalangeal joint of fifth toe owl:Class MONDO:0017793 biolink:NamedThing marfanoid habitus-inguinal hernia-advanced bone age syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:314041|UMLS:CN203743 owl:Class HGNC:257 biolink:NamedThing ADK tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000033 biolink:NamedThing marine sediment Sediment which has been transported through the marine water column, settling on the seafloor. tmpak2llvmy_mondo_relaxed.owl marine sediments owl:Class MONDO:0007337 biolink:NamedThing cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. tmpak2llvmy_mondo_relaxed.owl Cpls syndrome|cleft palate-lateral synechia syndrome|syngnathia|cleft palate lateral synechia syndrome|CPLS syndrome GARD:0001391|Orphanet:2016|OMIM:119550|SCTID:403772000|ICD9:759.89|UMLS:C0795898|DOID:0080313|MESH:C563047|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome owl:Class GO:0048729 biolink:NamedThing tissue morphogenesis The process in which the anatomical structures of a tissue are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014851 biolink:NamedThing chorda tendinea of left ventricle Chorda tendinea which is attached to the leaflet of mitral valve and is continuous with the endocardium of papillary muscle of left ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34502 biolink:NamedThing Troglotrematidae tmpak2llvmy_mondo_relaxed.owl Paragonimidae GC_ID:1 NCBITaxon:99728 ncbi_taxonomy owl:Class NCBITaxon:116925 biolink:NamedThing Troglotremata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006931 biolink:NamedThing stomach glandular region mucosa stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. tmpak2llvmy_mondo_relaxed.owl stomach glandular region glandular mucous membrane owl:Class MONDO:0013817 biolink:NamedThing preeclampsia/eclampsia 5 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. tmpak2llvmy_mondo_relaxed.owl preeclampsia caused by mutation in Corin|Preeclampsia/eclampsia type 5|CORIN preeclampsia|Corin preeclampsia|preeclampsia caused by mutation in CORIN|preeclampsia/eclampsia 5|PEE5|PREECLAMPSIA/eclampsia 5 UMLS:C3281288|OMIM:614595 owl:Class MONDO:0005081 biolink:NamedThing preeclampsia Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. tmpak2llvmy_mondo_relaxed.owl pre-eclampsia|pre-eclamptic toxaemia|proteinuric hypertension of pregnancy|pregnancy associated hypertension|pregnancy toxemia|preeclampsia/eclampsia|gestational hypertension|preeclampsia|hypertension induced by pregnancy|toxaemia of pregnancy ICD10:O14.0|Orphanet:275555|ICD9:642.40|ICD10:O14.2|OMIMPS:189800|SCTID:398254007|MESH:D011225|ICD10:O14|EFO:0000668|MedDRA:10036485|ICD10:O14.1|ICD10:O14.9|ICD9:642.44|ICD9:642.43|ICD9:642.42|NCIT:C85021|DOID:10591|ICD10:O14.90|ICD9:642.41 owl:Class MONDO:0002121 biolink:NamedThing mononeuritis simplex Neuritis of a single nerve. tmpak2llvmy_mondo_relaxed.owl mononeuritis UMLS:C0235880|DOID:1802|ICD9:355.9|SCTID:32595002 owl:Class MONDO:0030706 biolink:NamedThing Trichomonas cystitis An cystitis caused by infection with Trichomonas vaginalis. tmpak2llvmy_mondo_relaxed.owl Trichomonas cystitis|cystitis in trichomoniasis|Trichomonas vaginalis caused cystitis|trichomonal cystitis|Trichomonas vaginalis cystitis ICD9:131.09|UMLS:C0341733|NCIT:C35405|SCTID:197850006 owl:Class HGNC:7216 biolink:NamedThing MPI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006866 biolink:NamedThing neonatal myasthenia gravis A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) tmpak2llvmy_mondo_relaxed.owl neonatal myasthenia gravis ICD9:775.2|MedDRA:10028963|DOID:14043|MESH:D020941|SCTID:82178003|EFO:1001059 owl:Class MONDO:0009688 biolink:NamedThing myasthenia gravis Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. tmpak2llvmy_mondo_relaxed.owl autoimmune myasthenia gravis|MG|myasthenia gravis|acquired myasthenia ICD9:358.0|SCTID:91637004|DOID:437|OMIM:254200|Orphanet:589|EFO:0004991|ICD9:358.00|GARD:0007122|MedDRA:10028417|ICD10:G70.0|MESH:D009157|ICD10:G70.00|UMLS:C0026896|NCIT:C60989 https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis owl:Class UBERON:0014637 biolink:NamedThing thoracic spinal cord white matter A white matter of spinal cord that is part of a thoracic spinal cord. tmpak2llvmy_mondo_relaxed.owl thoracic spinal cord white matter owl:Class NCBITaxon:147573 biolink:NamedThing Piedraia hortae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147572 biolink:NamedThing Piedraia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008005 biolink:NamedThing cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. tmpak2llvmy_mondo_relaxed.owl mitral regurgitation-deafness-skeletal anomalies syndrome|cardiospondylocarpofacial syndrome|Forney-Robinson-Pascoe syndrome|Forney syndrome|Forney Robinson Pascoe syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones|congenital heart disease, deafness, and skeletal malformations|CSCF SCTID:720612000|Orphanet:3238|GARD:0002362|OMIM:157800|MESH:C563572|UMLS:CN204053 owl:Class HP:0000135 biolink:NamedThing Hypogonadism A decreased functionality of the gonad. tmpak2llvmy_mondo_relaxed.owl Decreased activity of gonads SNOMEDCT_US:48130008|MSH:D007006|UMLS:C0020619 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. human_phenotype owl:Class GO:0070125 biolink:NamedThing mitochondrial translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl mitochondrial translation elongation owl:Class MONDO:0007073 biolink:NamedThing hypoglossia-hypodactyly syndrome Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl hypoglossia-hypodactylia syndrome|hypoglossia-hypodactylia|aglossia-adactylia syndrome|peromelia with micrognathia|aglossia-adactylia|Hanhart syndrome|peromelia with micrognathism|oromandibular limb hypoplasia|aglossia adactylia|Jussieu syndrome SCTID:35031005|Orphanet:989|GARD:0000068|OMIM:103300|ICD9:759.89|ICD10:Q87.2 owl:Class MONDO:0007644 biolink:NamedThing IgAD1 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. tmpak2llvmy_mondo_relaxed.owl IgA, selective deficiency of|IMMUNOGLOBULIN A deficiency 1|gamma-A-globulin, selective deficiency of|Immunoglobulin A, selective deficiency of|IgAD1 MESH:C536290|NCIT:C123434|OMIM:137100 owl:Class MONDO:0001137 biolink:NamedThing Murray valley encephalitis An disease caused by infection with Murray Valley encephalitis virus. tmpak2llvmy_mondo_relaxed.owl Australian encephalitis|Murray Valley encephalitis virus disease or disorder|Australian X disease|Murray Valley encephalitis virus caused disease or disorder|Murray Valley encephalitis virus infectious disease DOID:10842|ICD9:062.4|UMLS:C0153066|ICD10:A83.4|SCTID:66454007 owl:Class MONDO:0007327 biolink:NamedThing chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase tmpak2llvmy_mondo_relaxed.owl chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C UMLS:C1861560|MESH:C566126|Orphanet:411|DOID:0111419|OMIM:118830 owl:Class GO:0060986 biolink:NamedThing endocrine hormone secretion The regulated release of a hormone into the circulatory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022545 biolink:NamedThing Barnicoat Baraitser syndrome tmpak2llvmy_mondo_relaxed.owl Barnicoat-Baraitser syndrome|polysyndactyly overgrowth syndrome GARD:0000825 Editor note: check ORDO https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome owl:Class MONDO:0010078 biolink:NamedThing spondyloperipheral dysplasia-short ulna syndrome An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia. tmpak2llvmy_mondo_relaxed.owl spondyloperipheral dysplasia with short ulna|spondyloperipheral dysplasia MESH:C535799|GARD:0004994|ICD10:Q77.7|SCTID:702339001|UMLS:C0796173|Orphanet:1856|ICD9:758.89|NCIT:C135088|OMIM:271700 owl:Class GO:0033152 biolink:NamedThing immunoglobulin V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. tmpak2llvmy_mondo_relaxed.owl immunoglobulin V(D)J joining|immunoglobulin V-J recombination|immunoglobulin V-D-J recombination|immunoglobulin V-D-J joining|immunoglobulin V-J joining owl:Class MONDO:0020855 biolink:NamedThing spermatogenic failure 32 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 32|SPGF32 OMIM:618115 owl:Class MONDO:0008670 biolink:NamedThing Waardenburg syndrome type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. tmpak2llvmy_mondo_relaxed.owl WS1|Waardenburg's syndrome type 1|Waardenburg syndrome type 1|Waardenburg syndrome, type 1|Waardenburg syndrome with dystopia canthorum|Waardenburg syndrome type I OMIM:193500|ICD10:E70.3|GARD:0005519|NCIT:C75008|Orphanet:894|UMLS:C1847800|DOID:0110948 https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 owl:Class UBERON:0018303 biolink:NamedThing adrenal tissue Tissue that is part of some adrenal gland tmpak2llvmy_mondo_relaxed.owl adrenal gland tissue owl:Class UBERON:0006948 biolink:NamedThing efferent duct epithelium An epithelium that is part of a efferent duct. tmpak2llvmy_mondo_relaxed.owl epithelium of efferent ductule of testis owl:Class HGNC:9580 biolink:NamedThing PSTPIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001672 biolink:NamedThing decreased distribution A distribution which is relatively low. tmpak2llvmy_mondo_relaxed.owl low distribution owl:Class PATO:0001476 biolink:NamedThing decreased position A positional which is relatively low. tmpak2llvmy_mondo_relaxed.owl low position owl:Class MONDO:0018021 biolink:NamedThing hypotrichosis-deafness syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204237|Orphanet:330029|ICD10:H90.5 owl:Class MONDO:0017681 biolink:NamedThing erythrokeratoderma variabilis progressiva Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. tmpak2llvmy_mondo_relaxed.owl Orphanet:308166|ICD10:Q82.8 owl:Class MONDO:0012004 biolink:NamedThing parathyroid gland carcinoma Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. tmpak2llvmy_mondo_relaxed.owl parathyroid gland adenocarcinoma|carcinoma of parathyroid|cancer of the parathyroid gland|parathyroid cancer|parathyroid carcinoma|parathyroid gland cancer|cancer of parathyroid gland|carcinoma of parathyroid gland|adenocarcinoma of parathyroid gland|adenocarcinoma of the parathyroid gland|malignant neoplasm of the parathyroid|adenocarcinoma of parathyroid|carcinoma of the parathyroid|adenocarcinoma of the parathyroid|parathyroid gland carcinoma|parathyroid adenocarcinoma|carcinoma of the parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid neoplasm|PRTC|parathyroid gland neoplasm DOID:1540|ONCOTREE:PTHC|ICD10:C75.0|NCIT:C4906|GARD:0007329|ICD9:194.1|EFO:1000456|SCTID:255037004|Orphanet:143|OMIM:608266 owl:Class MONDO:0021311 biolink:NamedThing malignant tumor of parathyroid gland A cancer that involves the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl cancer of parathyroid gland|malignant parathyroid neoplasm|malignant tumor of the parathyroid gland|malignant tumor of the parathyroid|malignant neoplasm of the parathyroid|malignant neoplasm of parathyroid gland|malignant tumor of parathyroid|malignant neoplasm of parathyroid|malignant parathyroid tumor|malignant parathyroid gland tumor|malignant neoplasm of the parathyroid gland|malignant parathyroid gland neoplasm|parathyroid cancer|parathyroid gland cancer ICD9:194.1|SCTID:363481002|ONCOTREE:PTH|NCIT:C9322 owl:Class MONDO:0008123 biolink:NamedThing autosomal dominant omodysplasia Autosomal dominant form of omodysplasia. tmpak2llvmy_mondo_relaxed.owl OMOD2|omodysplasia, autosomal dominant|omodysplasia 2 ICD10:Q78.8|SCTID:725165009|MESH:C567664|Orphanet:93328|GARD:0003643|OMIM:164745 owl:Class MONDO:0008714 biolink:NamedThing acrofacial dysostosis Rodriguez type Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. tmpak2llvmy_mondo_relaxed.owl acrofacial dysostosis, Rodríguez type|acrofacial dysostosis syndrome of Rodriguez|acrofacial dysostosis, syndrome of Rodriguez|Rodriguez lethal acrofacial dysostosis syndrome UMLS:C1860119|MESH:C538183|Orphanet:1788|DOID:0060383|OMIM:201170|SCTID:720430002|ICD10:Q75.4|GARD:0000496 https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type owl:Class MONDO:0006514 biolink:NamedThing recalcitrant atopic dermatitis Moderate to severe atopic dermatitis with allergic sensitisation. tmpak2llvmy_mondo_relaxed.owl PMID:25935106|EFO:1000651 owl:Class MONDO:0003503 biolink:NamedThing fallopian tube squamous cell carcinoma A rare squamous cell carcinoma that arises from the fallopian tube. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of fallopian tube|fallopian tube squamous cell cancer|fallopian tube squamous cell carcinoma|squamous cell carcinoma of the fallopian tube NCIT:C6282|UMLS:C1333596|DOID:5540 owl:Class MONDO:0008681 biolink:NamedThing WAGR syndrome WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. tmpak2llvmy_mondo_relaxed.owl partial monosomy 11p|chromosome 11p13 deletion syndrome|deletion 11p13|WAGR Complex|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|11p monosomy|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|AGR triad|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|deletion 11p|Del(11)(p13)|11p deletion|chromosome 11p deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|chromosome 11p deletion|monosomy 11p|monosomy 11p13|11p deletion syndrome|WAGR syndrome|11p partial monosomy syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|WAGR|chromosome 11P13 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Orphanet:893|GARD:0005528|SCTID:715215007|GARD:0001732|UMLS:C2931803|OMIM:194072|DOID:14515|ICD10:Q87.8|UMLS:C0206115|NCIT:C3718|MESH:D017624 https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome owl:Class MONDO:0018147 biolink:NamedThing idiopathic macular telangiectasia type 3 Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. tmpak2llvmy_mondo_relaxed.owl occlusive idiopathic juxtafoveolar retinal telangiectasis ICD10:H35.5|Orphanet:353351|UMLS:CN204545 owl:Class MONDO:0003322 biolink:NamedThing epithelial predominant Wilms' tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. tmpak2llvmy_mondo_relaxed.owl epithelial predominant kidney adenosarcoma|epithelial predominant nephroblastoma|epithelial predominant renal adenosarcoma|epithelial predominant Wilms tumor|epithelial predominant renal Wilms tumor|epithelial predominant renal Wilms' tumor|epithelial predominant renal Wilm's tumor|epithelial predominant kidney Wilms tumor DOID:5189|UMLS:C0279608|NCIT:C9146 owl:Class NCBITaxon:787 biolink:NamedThing Rickettsia australis tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:11034486 ncbi_taxonomy owl:Class MONDO:0007219 biolink:NamedThing brachydactyly type A6 Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Osebold-Remondini syndrome|brachydactyly, type A6|OSEBOLD-Remondini syndrome|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6|brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities GARD:0000983|MESH:C537092|ICD10:Q73.8|SCTID:715722003|DOID:0110968|Orphanet:93382|UMLS:C1862130|OMIM:112910 https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 owl:Class MONDO:0001771 biolink:NamedThing infective urethral stricture tmpak2llvmy_mondo_relaxed.owl ICD9:598.00|ICD9:598.01|DOID:13658|SCTID:80375002|ICD9:136.9 owl:Class MONDO:0017901 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|autosomal recessive MSMD due to partial IFNgammaR1 deficiency ICD10:D84.8|UMLS:CN203960|Orphanet:319569 owl:Class GO:0002757 biolink:NamedThing immune response-activating signal transduction The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001004 biolink:NamedThing slate pneumoconiosis Pneumoconiosis caused by exposure to slate dust. tmpak2llvmy_mondo_relaxed.owl Schistosis ICD9:502|SCTID:1259003|DOID:10330|UMLS:C0340186|NCIT:C35397 owl:Class MONDO:0030923 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis tmpak2llvmy_mondo_relaxed.owl OMIMPS:105500 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014003 biolink:NamedThing developmental and epileptic encephalopathy, 15 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 15|epileptic encephalopathy, early infantile, type 15|EIEE15|DEE15 OMIM:615006|DOID:0080414|UMLS:C3554316 owl:Class MONDO:0012759 biolink:NamedThing camptodactyly syndrome, Guadalajara type 3 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. tmpak2llvmy_mondo_relaxed.owl camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome, Guadalajara, type III|camptodactyly syndrome Guadalajara type 3 UMLS:C2677809|Orphanet:488434|MESH:C567455|GARD:0010573|OMIM:611929 https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 owl:Class MONDO:0008582 biolink:NamedThing tooth and nail syndrome Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. tmpak2llvmy_mondo_relaxed.owl Witkop's syndrome|nail dysplasia with hypodontia|hypoplastic enamel-onycholysis-hypohidrosis syndrome|hypodontia-nail dysgenesis syndrome|tooth-and-nail syndrome|ectodermal dysplasia 3, Tooth/nail type|ectodermal dysplasia 3, Witkop type|hypodontia - dysplasia of nails|WITKOP syndrome|HND|Witkop syndrome|dysplasia of nails with hypodontia|hypodontia-nail dysplasia|tooth and nail syndrome|TNS|hypodontia-dysplasia of nails syndrome|hypodontia with nail dysplasia|hypodontia and nail dysplasia OMIM:189500|ICD10:Q82.4|GARD:0005587|MESH:C536736|DOID:6678|Orphanet:2228|SCTID:400036004|UMLS:C0406735|NCIT:C40553 owl:Class MONDO:0004019 biolink:NamedThing oxyphilic endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. tmpak2llvmy_mondo_relaxed.owl oxyphilic endometrial endometrioid adenocarcinoma NCIT:C27849|UMLS:C1518768|DOID:6865 owl:Class MONDO:0003155 biolink:NamedThing cavernous hemangioma A hemangioma characterized by the presence of cavernous vascular spaces. tmpak2llvmy_mondo_relaxed.owl cavernous angioma|cavernous hemangioma (morphologic abnormality)|cavernous hemangioma|cavernoma|cavernous haemangioma MESH:D006392|EFO:1000151|ICD10:D18.0|HP:0001048|NCIT:C3086|UMLS:C0018920|SCTID:416824008|DOID:483|ICDO:9121/0 MONDO:0006124 owl:Class CHEBI:33242 biolink:NamedThing inorganic hydride tmpak2llvmy_mondo_relaxed.owl inorganic hydrides owl:Class MONDO:0004472 biolink:NamedThing breast columnar cell mucinous carcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. tmpak2llvmy_mondo_relaxed.owl breast columnar cell mucinous carcinoma DOID:8130|NCIT:C40355|UMLS:C1511305 owl:Class MONDO:0002707 biolink:NamedThing breast mucinous carcinoma An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl mucinous carcinoma of breast|colloid carcinoma of the breast|mucinous carcinoma of the breast|breast mucinous carcinoma|colloid breast carcinoma|colloid carcinoma of breast|invasive mucinous breast carcinoma|breast invasive mixed mucinous carcinoma|invasive colloid breast carcinoma|mucinous breast cancer|infiltrating mucinous breast carcinoma|infiltrating colloid breast carcinoma|mucinous breast carcinoma NCIT:C9131|DOID:3610|ONCOTREE:IMMC|UMLS:C1334807|SCTID:444712000 owl:Class MONDO:0002181 biolink:NamedThing exostosis Non-neoplastic overgrowth of bone. tmpak2llvmy_mondo_relaxed.owl osteophyte|swimmer's exostosis|bone spur|exostosis|bony outgrowth|bone osteophyte|orbital exostosis NCIT:C3029|DOID:203|SCTID:235231000119100|UMLS:C1956089|ICD9:726.91|UMLS:C1442903|ICD10:M27.8|SCTID:416189003 Editor note: compare with osteophyte owl:Class MONDO:0019984 biolink:NamedThing renal tubular dysgenesis due to twin-twin transfusion 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' tmpak2llvmy_mondo_relaxed.owl ICD10:Q63.8|UMLS:CN206914|Orphanet:97367 owl:Class CHEBI:75603 biolink:NamedThing EC 6.* (ligase) inhibitor Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpak2llvmy_mondo_relaxed.owl EC 6.*.*.* inhibitor|ligase inhibitor|ligase inhibitors|EC 6.* inhibitor|EC 6.*.*.* inhibitors|EC 6.* (ligase) inhibitors|EC 6.* inhibitors owl:Class MONDO:0001291 biolink:NamedThing brain compression tmpak2llvmy_mondo_relaxed.owl ICD9:348.4|UMLS:C0009592|SCTID:46963008|ICD10:G93.5|DOID:11457 owl:Class MONDO:0012357 biolink:NamedThing glaucoma 1, open angle, G Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene. tmpak2llvmy_mondo_relaxed.owl WDR36 open-angle glaucoma|glaucoma 1, open angle, type G|open-angle glaucoma caused by mutation in WDR36|GLC1G|glaucoma 1, open angle, G OMIM:609887|MESH:C563692|UMLS:C1835933 owl:Class MONDO:0016779 biolink:NamedThing multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. tmpak2llvmy_mondo_relaxed.owl MCA due to 14q32.2 maternally expressed gene defect DOID:0111712|Orphanet:254519 owl:Class MONDO:0008162 biolink:NamedThing otitis media, susceptibility to tmpak2llvmy_mondo_relaxed.owl OMS|come/Rom|otitis media, susceptibility to|otitis Media, chronic/recurrent OMIM:166760 owl:Class MONDO:0011799 biolink:NamedThing autosomal recessive nonsyndromic deafness 33 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 33|autosomal recessive nonsyndromic deafness type 33|deafness, autosomal recessive 33|DFNB33 UMLS:C1846576|OMIM:607239|MESH:C564602|ICD10:H90.3|DOID:0110492 owl:Class MONDO:0008702 biolink:NamedThing achondrogenesis type II Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. tmpak2llvmy_mondo_relaxed.owl achondrogenesis, type 2|achondrogenesis, type II|achondrogenesis type 2|achondrogenesis, type IB|ACG2|chondrogenesis imperfecta|hypochondrogenesis|achondrogenesis, type IB, formerly|achondrogenesis type II|achondrogenesis, Langer-Saldino type DOID:0080056|OMIM:200610|Orphanet:93296|GARD:0008713|ICD10:Q77.0|MESH:C536017 owl:Class MONDO:0016889 biolink:NamedThing partial deletion of the short arm of chromosome 7 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 7p|partial monosomy of chromosome 7p|partial monosomy of the short arm of chromosome 7|monosomy 7p|partial deletion of the short arm of chromosome type 7|7p monosomy|7p deletion|partial monosomy 7p|chromosome 7p deletion|deletion 7p GARD:0001346|ICD10:Q93.5|Orphanet:261911 owl:Class ECTO:4000026 biolink:NamedThing exposure to decreased pressure A exposure event involving the interaction of an exposure receptor to decreased pressure. tmpak2llvmy_mondo_relaxed.owl decreased pressure exposure owl:Class GO:1904252 biolink:NamedThing negative regulation of bile acid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process. tmpak2llvmy_mondo_relaxed.owl down regulation of bile acid metabolic process|downregulation of bile acid metabolism|down-regulation of bile acid metabolism|down-regulation of bile acid metabolic process|down regulation of bile acid metabolism|negative regulation of bile acid metabolism|inhibition of bile acid metabolism|inhibition of bile acid metabolic process|downregulation of bile acid metabolic process owl:Class MONDO:0032742 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl IIAE9|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 OMIM:618426 owl:Class GO:1903319 biolink:NamedThing positive regulation of protein maturation Any process that activates or increases the frequency, rate or extent of protein maturation. tmpak2llvmy_mondo_relaxed.owl up regulation of protein maturation|upregulation of protein maturation|up-regulation of protein maturation|activation of protein maturation owl:Class OBO:CHR_9606-chr13q12 biolink:NamedThing chr13q12 (Human) tmpak2llvmy_mondo_relaxed.owl 31600000 18900000 hg38 owl:Class MONDO:0015828 biolink:NamedThing uterovaginal malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:180062 owl:Class MONDO:0001649 biolink:NamedThing fungal esophagitis Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. tmpak2llvmy_mondo_relaxed.owl fungal esophagitis DOID:13147|SCTID:235602008|ICD9:117.9|NCIT:C27107|UMLS:C0341109 owl:Class MONDO:0014831 biolink:NamedThing progeroid and marfanoid aspect-lipodystrophy syndrome tmpak2llvmy_mondo_relaxed.owl MFLS|Marfan lipodystrophy syndrome|Marfan-progeroid-lipodystrophy syndrome|Marfanoid-progeroid syndrome UMLS:C4310796|Orphanet:300382|OMIM:616914|ICD10:E88.1 owl:Class UBERON:0010499 biolink:NamedThing pseudostratified ciliated columnar epithelium Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile. tmpak2llvmy_mondo_relaxed.owl epithelium pseudostratificatum columnare ciliatum (trachea et bronchi) owl:Class MONDO:0060562 biolink:NamedThing encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities tmpak2llvmy_mondo_relaxed.owl lipoyltransferase 2 deficiency|encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities|NELABA UMLS:C4540052|OMIM:617668 owl:Class MONDO:0019408 biolink:NamedThing Astley-Kendall dysplasia Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. tmpak2llvmy_mondo_relaxed.owl short limbed dwarfism with extensive stippling|Astley-Kendall syndrome Orphanet:85175|ICD10:Q77.3|SCTID:389263004|MESH:C535392|UMLS:C1300228|GARD:0009220 owl:Class MONDO:0009898 biolink:NamedThing polysaccharide, storage of unusual tmpak2llvmy_mondo_relaxed.owl polysaccharide, storage of unusual OMIM:263600|MESH:C564877 owl:Class MONDO:0030036 biolink:NamedThing leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome tmpak2llvmy_mondo_relaxed.owl Lemspad Syndrome|LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME|LEMSPAD|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome OMIM:618878 owl:Class MONDO:0007524 biolink:NamedThing autosomal dominant Ehlers-Danlos syndrome, vascular type The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpak2llvmy_mondo_relaxed.owl autosomal dominant type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, sack-Barabas type|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, type IV, autosomal dominant|autosomal dominant Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, arterial type|EDS 4|EDSVASC|Ehlers-Danlos syndrome, Ecchymotic type OMIM:130050|DOID:14756 owl:Class UBERON:0008785 biolink:NamedThing upper limb segment A limb segment that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl free upper limb segment|free upper limb subdivision|subdivision of free upper limb|segment of free upper limb owl:Class MONDO:0006895 biolink:NamedThing penile neoplasm A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpak2llvmy_mondo_relaxed.owl penile neoplasms|penile neoplasm|neoplasm of penis|tumor of penis|tumor of the penis|neoplasm of the penis|penis neoplasm|penile tumor|penis tumor|penis neoplasm (disease) MESH:D010412|ICD9:239.5|NCIT:C3317|DOID:11624|UMLS:C0030849|ONCOTREE:PENIS|SCTID:126896003|EFO:1001094|MedDRA:10061913 owl:Class GO:0016628 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003735 biolink:NamedThing central nervous system immature teratoma A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl immature teratoma of the CNS|central nervous system immature teratoma|immature teratoma of central nervous system|immature teratoma of the central nervous system|immature teratoma of CNS|immature teratoma|CNS immature teratoma ONCOTREE:BIMT|NCIT:C7014|DOID:6019|UMLS:C1332883 owl:Class MONDO:0004490 biolink:NamedThing gestational uterine corpus choriocarcinoma A gestational choriocarcinoma that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl gestational choriocarcinoma of body of uterus|body of uterus gestational choriocarcinoma DOID:8187 owl:Class MONDO:0020550 biolink:NamedThing gestational choriocarcinoma Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. tmpak2llvmy_mondo_relaxed.owl gestational chorionepithelioma|gestational choriocarcinoma (morphologic abnormality)|gestational choriocarcinoma|molar pregnancy with choriocarcinoma ICD9:181|ICD10:C58|SCTID:417570003|NCIT:C4646|Orphanet:99926|DOID:2025|UMLS:C0349557 owl:Class MONDO:0022865 biolink:NamedThing corneal dystrophy ichthyosis microcephaly intellectual disability tmpak2llvmy_mondo_relaxed.owl GARD:0001528 https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation owl:Class MONDO:0019240 biolink:NamedThing sterol biosynthesis disorder An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of sterol biosynthetic process|inborn error of sterol biosynthetic process|inborn sterol biosynthetic process disorder Orphanet:79195|UMLS:CN227602 owl:Class GO:0010674 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl activation of meiosis by negative regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic owl:Class GO:0000122 biolink:NamedThing negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl negative regulation of global transcription from Pol II promoter|down-regulation of global transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|downregulation of transcription from RNA polymerase II promoter|downregulation of global transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|down-regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from Pol II promoter|down regulation of transcription from RNA polymerase II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter|inhibition of global transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|inhibition of transcription from RNA polymerase II promoter owl:Class GO:1904748 biolink:NamedThing regulation of apoptotic process involved in development Any process that modulates the frequency, rate or extent of apoptotic process involved in development. tmpak2llvmy_mondo_relaxed.owl regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of apoptotic cell death involved in anatomical structure development|regulation of apoptotic program involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of apoptotic process involved in anatomical structure development|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of apoptosis involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of apoptosis signaling involved in anatomical structure development|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of commitment to apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of apoptotic process involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of activation of apoptosis involved in anatomical structure development|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptotic cell death involved in development of an anatomical structure owl:Class NCBITaxon:1891762 biolink:NamedThing Human polyomavirus 1 tmpak2llvmy_mondo_relaxed.owl BKV|BK virus|Human polyomavirus (type BK)|Human polyomavirus BKV|Papovavirus BKV|Human polyomavirus BK|polyomavirus BK|Polyomavirus hominis 1|human polyomavirus type BK BKV|BK virus BKV|BK polyomavirus GC_ID:1 NCBITaxon:38015|NCBITaxon:10575|NCBITaxon:10629 ncbi_taxonomy owl:Class NCBITaxon:1891714 biolink:NamedThing Betapolyomavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:48791 biolink:NamedThing Setariidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006949 biolink:NamedThing retinal drusen Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. tmpak2llvmy_mondo_relaxed.owl EFO:1001155|DOID:2569|MESH:D015593|UMLS:C0035312|MedDRA:10062776|SCTID:247153005|ICD9:362.57 owl:Class SO:0001268 biolink:NamedThing snRNA_gene A gene that encodes a small nuclear RNA. tmpak2llvmy_mondo_relaxed.owl snRNA gene|small nuclear RNA gene owl:Class SO:0002342 biolink:NamedThing sncRNA_gene A ncRNA_gene (SO:0001263) that is less than 200 nucleotides in length. tmpak2llvmy_mondo_relaxed.owl sncRNA gene|small non-coding RNA gene owl:Class MONDO:0020838 biolink:NamedThing anterior nasal diphtheria Infection of the anterior nasal structures by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl anterior nasal diphtheria|Anterior Nasal Diphtheria|Anterior nasal diphtheria NCIT:C34542|UMLS:C0012553|SCTID:15682004|ICD9:032.2 owl:Class HGNC:2218 biolink:NamedThing COL9A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003067 biolink:NamedThing cervical lymphadenitis Inflammation of the cervical lymph nodes. tmpak2llvmy_mondo_relaxed.owl cervical adenitis|lymphadenitis (disease) of neck|neck lymphadenitis (disease) SCTID:3502005|UMLS:C0149642|NCIT:C26937|DOID:4637 owl:Class UBERON:0001917 biolink:NamedThing endothelium of artery An endothelium that is part of an artery [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl artery endothelium|arterial endothelium owl:Class UBERON:0004700 biolink:NamedThing arterial system endothelium An endothelium that is part of an arterial system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001763 biolink:NamedThing ethmoid sinus cancer A malignant neoplasm involving the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl malignant ethmoid sinus neoplasm|malignant tumor of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|malignant ethmoidal sinus neoplasm|malignant neoplasm of ethmoidal sinus|malignant tumor of the ethmoid sinus|malignant tumor of ethmoid sinus|malignant neoplasm of the ethmoidal sinus|malignant ethmoidal sinus tumor|ethmoid sinus cancer|malignant tumor of the ethmoidal sinus|cancer of ethmoid sinus|malignant neoplasm of ethmoid sinus|malignant ethmoid sinus tumor NCIT:C3541|SCTID:363426009|ICD9:160.3|DOID:1363|UMLS:C0153477|ICD10:C31.1 owl:Class MONDO:0002403 biolink:NamedThing synovium cancer A cancer that involves the layer of synovial tissue. tmpak2llvmy_mondo_relaxed.owl cancer of synovial membrane of synovial joint|malignant neoplasm of the synovium|malignant synovial membrane of synovial joint neoplasm|malignant neoplasm of synovial membrane of synovial joint|malignant tumor of the synovium|malignant layer of synovial tissue neoplasm|malignant tumor of synovium|malignant synovial tumor|cancer of layer of synovial tissue|malignant neoplasm of synovium|malignant synovial neoplasm|synovial membrane of synovial joint cancer|layer of synovial tissue cancer|malignant neoplasm of layer of synovial tissue NCIT:C6531|UMLS:C1334624|DOID:2706 owl:Class UBERON:0002401 biolink:NamedThing visceral pleura The inner serous membrane of the pulmonary pleural. The visceral pleura lines the lungs. tmpak2llvmy_mondo_relaxed.owl pleura visceralis|pleura visceralis (pulmonalis)|lung mesothelium|pulmonary pleura|pulmonary visceral pleura|pleura pulmonalis|lung pleura owl:Class MONDO:0010887 biolink:NamedThing isolated anterior cervical hypertrichosis Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. tmpak2llvmy_mondo_relaxed.owl Tsukahara-Kajii syndrome|hairy throat syndrome|hypertrichosis, anterior cervical|hairy throat|anterior cervical hypertrichosis|Tsukahara Kajii syndrome OMIM:600457|GARD:0008438|UMLS:C1838123|ICD10:L68.2|Orphanet:3387|MESH:C538390|SCTID:717963001 https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis owl:Class UBERON:0035174 biolink:NamedThing right ear The organ of hearing located on the right side of the head. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003772 biolink:NamedThing cerebral meningioma A meningioma that affects the cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl meningioma of the cerebrum|meningioma of cerebral hemispheres|meningioma (disease) of telencephalon|telencephalon meningioma (disease)|cerebral hemispheric meningioma|meningioma of cerebrum|meningioma of the cerebral hemispheres DOID:6112|UMLS:C0542564|SCTID:189164002|NCIT:C4807 owl:Class MONDO:0000642 biolink:NamedThing brain meningioma A meningioma (disease) that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain meningioma (disease)|meningioma (disease) of brain DOID:0060106 Editor note: TODO check owl:Class MONDO:0002990 biolink:NamedThing benign deep fibrous histiocytoma A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases. tmpak2llvmy_mondo_relaxed.owl deep benign fibrous histiocytoma|benign deep fibrous histiocytoma NCIT:C6492|UMLS:C1266125|DOID:4419 owl:Class MONDO:0033534 biolink:NamedThing combined oxidative phosphorylation deficiency 46 tmpak2llvmy_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46|COXPD46 OMIM:618952 owl:Class MONDO:0016843 biolink:NamedThing 20q13.33 microdeletion syndrome 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. tmpak2llvmy_mondo_relaxed.owl monosomy 20q13.33|Del(20)(q13.33) UMLS:CN202183|ICD10:Q93.5|Orphanet:261311|UMLS:C4518823|SCTID:733520002 owl:Class MONDO:0014598 biolink:NamedThing developmental and epileptic encephalopathy, 31 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. tmpak2llvmy_mondo_relaxed.owl DNM1 early infantile epileptic encephalopathy|EIEE31|epileptic encephalopathy, early infantile, 31|DEE31|epileptic encephalopathy, early infantile, type 31|early infantile epileptic encephalopathy caused by mutation in DNM1 DOID:0080437|OMIM:616346|UMLS:C4225357 owl:Class MONDO:0008219 biolink:NamedThing pemphigus vulgaris Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%). tmpak2llvmy_mondo_relaxed.owl pemphigus vulgaris, familial|familial pemphigus vulgaris EFO:0004719|GARD:0007355|ICD10:L10.0|DOID:0060851|MedDRA:10052802|Orphanet:704|MESH:C536645|OMIM:169610|GARD:0004270|NCIT:C34910|SCTID:49420001|UMLS:C0030809 Editor note: check familial vs acquired owl:Class MONDO:0014179 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpak2llvmy_mondo_relaxed.owl multisystem Proteinopathy 3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3|IBMPFD3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1 UMLS:C3809469|DOID:0111386|OMIM:615424 owl:Class MONDO:0000507 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. tmpak2llvmy_mondo_relaxed.owl pagetoid amyotrophic lateral sclerosis|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|IBMPFD|pagetoid neuroskeletal syndrome|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|limb-girdle muscular dystrophy with Paget disease of bone|inclusion body myopathy/Paget disease/frontotemporal dementia|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia DOID:0050881|Orphanet:52430|GARD:0010899|OMIMPS:167320|ICD10:G71.8|SCTID:703544004|UMLS:C1833662 owl:Class MONDO:0009045 biolink:NamedThing cataract-nephropathy-encephalopathy syndrome Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. tmpak2llvmy_mondo_relaxed.owl crome syndrome|congenital cataracts, renal tubular necrosis and encephalopathy in two sisters Orphanet:1380|MESH:C536216|OMIM:218900|GARD:0001614|ICD10:Q87.8|UMLS:C0795914|SCTID:722381004 owl:Class MONDO:0700107 biolink:NamedThing chromosome 19q13.11 deletion syndrome, distal Chromosome 19q13.11 deletion syndrome in which the distal region was deleted. tmpak2llvmy_mondo_relaxed.owl OMIM:613026 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0013090 biolink:NamedThing chromosome 19q13.11 deletion syndrome The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. tmpak2llvmy_mondo_relaxed.owl Del(19)(q13.11)|chromosome 19Q13.11 deletion syndrome, distal|19q13.11 microdeletion syndrome|monosomy 19q13.11|chromosome 19q13.11 deletion syndrome, distal DOID:0060408|SCTID:719599008|UMLS:C2751651|Orphanet:217346|UMLS:C4304577|GARD:0010592|ICD10:Q93.5|MESH:C567810 https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome owl:Class MONDO:0017230 biolink:NamedThing autosomal semi-dominant severe lipodystrophic laminopathy tmpak2llvmy_mondo_relaxed.owl ICD10:E88.1|UMLS:CN202719|Orphanet:280365 owl:Class MONDO:0015625 biolink:NamedThing diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Orphanet:165988|ICD10:E16.1 owl:Class MONDO:0009169 biolink:NamedThing endocardial fibroelastosis Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. tmpak2llvmy_mondo_relaxed.owl endomyocardial fibroelastosis|Elastomyofibrosis|EFE|endocardial fibroelastosis DOID:12929|GARD:0006336|MedDRA:10014663|NCIT:C98922|ICD10:I42.4|ICD9:425.3|SCTID:65457005|OMIM:226000|MESH:D004695|UMLS:C0014117|Orphanet:2022|EFO:0007251 Editor notes: ORDO classifies as both familial and non-familial https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis owl:Class CL:1000718 biolink:NamedThing kidney inner medulla collecting duct principal cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001134 cell owl:Class MONDO:0019712 biolink:NamedThing patellar dysostosis tmpak2llvmy_mondo_relaxed.owl Orphanet:93455 owl:Class MONDO:0003377 biolink:NamedThing extrahepatic bile duct leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl bile duct leiomyosarcoma|extrahepatic bile duct leiomyosarcoma|leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of the bile duct|leiomyosarcoma of bile duct|leiomyosarcoma of extrahepatic bile duct NCIT:C5848|DOID:5293|UMLS:C1333508 owl:Class MONDO:0032692 biolink:NamedThing Galloway-Mowat syndrome 7 tmpak2llvmy_mondo_relaxed.owl GAMOS7|GALLOWAY-MOWAT SYNDROME 7 OMIM:618348 owl:Class HGNC:6998 biolink:NamedThing MEFV tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010538 biolink:NamedThing Mononen-Karnes-Senac syndrome Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. tmpak2llvmy_mondo_relaxed.owl skeletal dysplasia brachydactyly|short and abducted thumbs and great toes|brachydactyly Mononen type|Mononen Karnes Senac syndrome|Mononen type brachydactyly|thumbs and great toes, short and abducted|brachydactyly, Mononen type|skeletal dysplasia-brachydactyly syndrome|thumbs and great toes short and abducted MESH:C535914|SCTID:733095006|DOID:0110973|ICD10:Q87.5|GARD:0004886|UMLS:C2931060|Orphanet:2565|OMIM:301940 https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type owl:Class MONDO:0001880 biolink:NamedThing median rhomboid glossitis tmpak2llvmy_mondo_relaxed.owl persistent tuberculum impar ICD10:K14.2|ICD9:529.2|SCTID:7522008|DOID:14111|ICD9:750.19 owl:Class MONDO:0013006 biolink:NamedThing isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. tmpak2llvmy_mondo_relaxed.owl congenital IGHD type IB|isolated growth hormone deficiency type 1B|IGHD1B|IGHD 1B|congenital isolated GH deficiency type IB|IGHD IB|isolated Growth hormone deficiency, type 1B|congenital isolated growth hormone deficiency type IB|isolated growth hormone deficiency, type IB|dwarfism of Sindh MESH:C567564|DOID:0060874|ICD10:E23.0|UMLS:C2748571|OMIM:612781|GARD:0003919|Orphanet:231671 https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b owl:Class MONDO:0000050 biolink:NamedThing isolated congenital growth hormone deficiency tmpak2llvmy_mondo_relaxed.owl IGHD|congenital isolated GH deficiency|non-acquired isolated growth hormone deficiency|isolated growth hormone deficiency|congenital IGHD|congenital isolated growth hormone deficiency|familial isolated growth hormone deficiency|ICGHD GARD:0012556|OMIMPS:262400|DOID:0060870|SCTID:2109003|MedDRA:10035083|Orphanet:631|ICD10:E23.0 owl:Class UBERON:0001201 biolink:NamedThing serosa of stomach the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum tmpak2llvmy_mondo_relaxed.owl serosa of ventriculus anatomical wall|serous membrane of stomach anatomical wall|anatomical wall of stomach serosa|tunica serosa (gaster)|stomach wall serous membrane|stomach anatomical wall serosa|serous membrane of anatomical wall of stomach|anatomical wall of stomach serous membrane|serous membrane of gastric wall|serous membrane of ventriculus anatomical wall|serosa of anatomical wall of ventriculus|serous membrane of stomach wall|ventriculus anatomical wall serosa|stomach anatomical wall serous membrane|serosa of ventriculus wall|serous membrane of wall of ventriculus|anatomical wall of ventriculus serous membrane|wall of stomach serous membrane|gastric wall serous membrane|serous membrane of ventriculus wall|serosa of gastric wall|gastric wall serosa|ventriculus wall serosa|serous coat of stomach|visceral peritoneum of stomach|wall of stomach serosa|serosa of wall of stomach|anatomical wall of ventriculus serosa|serosa of stomach anatomical wall|ventriculus anatomical wall serous membrane|stomach wall serosa|serosa of stomach wall|gastric serosa|wall of ventriculus serous membrane|tunica serosa gastricae|ventriculus wall serous membrane|serosa of wall of ventriculus|wall of ventriculus serosa|serous membrane of anatomical wall of ventriculus|stomach serosa|serosa of anatomical wall of stomach|serous membrane of wall of stomach owl:Class MONDO:0009380 biolink:NamedThing Dubin-Johnson syndrome Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. tmpak2llvmy_mondo_relaxed.owl chronic idiopathic jaundice|hyperbilirubinemia 2|hyperbilirubinemia type 2|Sprinz-Nelson syndrome|Dubin-Johnson syndrome|conjugated hyperbilirubinemia|DJS|Dubin Johnson syndrome|Dubin-Sprinz disease|hyperbilirubinemia, Dubin-Johnson type Orphanet:234|GARD:0006289|SCTID:44553005|NCIT:C34741|MedDRA:10013800|DOID:12308|MESH:D007566|UMLS:C0022350|OMIM:237500|ICD10:E80.6|GARD:0002793 owl:Class MONDO:0001035 biolink:NamedThing hypopyon ulcer tmpak2llvmy_mondo_relaxed.owl UMLS:C0155070|SCTID:6395007|ICD10:H16.03|DOID:10442|ICD9:370.04 owl:Class MONDO:0001036 biolink:NamedThing hypopyon An accumulation of pus in the anterior chamber of the eye. tmpak2llvmy_mondo_relaxed.owl DOID:10443|ICD10:H20.05|NCIT:C50593|SCTID:87807004|UMLS:C0020641|ICD9:364.05 owl:Class UBERON:0004256 biolink:NamedThing hindlimb zeugopod muscle Any muscle organ that is part of a hindlimb zeugopod (lower leg) [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl calf muscle|muscle of leg|lower leg muscle owl:Class MONDO:0021239 biolink:NamedThing urethra neoplasm A neoplasm (disease) that involves the urethra. tmpak2llvmy_mondo_relaxed.owl urethral tumors|urethral neoplasm|neoplasm of the urethra|urethral tumor|urethra neoplasm (disease)|tumor of the urethra|urethra tumor|urethral neoplasms|urethra neoplasms|neoplasms. urethra|tumor of urethra|urethra tumors|neoplasm of urethra|tumors. urethra EFO:0003846|NCIT:C3428 owl:Class UBERON:0004099 biolink:NamedThing joint space of elbow Joint cavity shared by all the joints of the elbow. The elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis. All three share a joint cavity which is highly sinuated/scalloped/coved. Joint spaces of the elbow summarizes the joint cavity shared by all three adjoining joints of the elbow joint. tmpak2llvmy_mondo_relaxed.owl synovial cavity of elbow joint owl:Class MONDO:0018241 biolink:NamedThing primary short bowel syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204780|ICD10:Q41.0|Orphanet:365563 owl:Class MONDO:0001360 biolink:NamedThing blind hypotensive eye tmpak2llvmy_mondo_relaxed.owl SCTID:23360000|DOID:11766|UMLS:C0154788|ICD9:360.41 owl:Class HsapDv:0000126 biolink:NamedThing 32-year-old human stage Adult stage that refers to an adult who is over 32 and under 33. tmpak2llvmy_mondo_relaxed.owl owl:Class OGMS:0000063 biolink:NamedThing disease course The totality of all processes through which a given disease instance is realized. tmpak2llvmy_mondo_relaxed.owl creation date: 2009-06-23T11:55:44Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class CL:0000552 biolink:NamedThing orthochromatic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. tmpak2llvmy_mondo_relaxed.owl pyknotic eto enrythroblast|late erythoblast|orthochromatic normoblast|eosinophilic erythroblast|acidophilic erythroblast FMA:84646 cell owl:Class MONDO:0008450 biolink:NamedThing spinal arachnoiditis A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. tmpak2llvmy_mondo_relaxed.owl arachnoiditis, spinal|spinal arachnoiditis OMIM:182950|MESH:C531624|SCTID:426055002|UMLS:C1710146|NCIT:C50749 owl:Class MONDO:0015304 biolink:NamedThing arachnoiditis Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. tmpak2llvmy_mondo_relaxed.owl arachnoid mater inflammation|inflammation of arachnoid mater|chronic arachnoiditis|adhesive arachnoiditis ICD10:G03|Orphanet:137817|NCIT:C37913|ICD10:G03.9|UMLS:C0003708|MedDRA:10003074|UMLS:C0270617|GARD:0005839|SCTID:13980006|MESH:D001100|DOID:12156 owl:Class MONDO:0005684 biolink:NamedThing bulbar polio A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) tmpak2llvmy_mondo_relaxed.owl medullary involvement poliomyelitis|polio, bulbar|poliomyelitis, medullary involvement|bulbar poliomyelitis|bulbar polio EFO:0007186|MESH:D011052|DOID:9786|UMLS:C0032372|ICD9:045.0 owl:Class MONDO:0009595 biolink:NamedThing cartilage-hair hypoplasia Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. tmpak2llvmy_mondo_relaxed.owl cartilage-hair hypoplasia|CHH|metaphyseal chondrodysplasia McKusick type|autosomal recessive metaphyseal chondrodysplasia|McKusick type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, Mckusick type|metaphyseal chondrodysplasia, McKusick type|cartilage hair hypoplasia|cartilage hair hypoplasia like syndrome OMIM:250250|DOID:14773|MESH:C535916|UMLS:C0220748|SCTID:7720002|NCIT:C61245|MedDRA:10069596|Orphanet:175|ICD10:Q78.8|GARD:0006996 https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia owl:Class HGNC:24576 biolink:NamedThing CDT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020040 biolink:NamedThing 46,XY disorder of sex development Differences of sex development in individuals with 46,XY karyotype. tmpak2llvmy_mondo_relaxed.owl 46,XY DSD|46, XY female|46,XY disorders of Sex development|46, XY disorders of sexual development|XY female|46,XY differences of Sex development|46, XY DSD GARD:0008538|NCIT:C127171|SCTID:8234004|UMLS:C2751824|Orphanet:98085|MESH:D058490 owl:Class GO:0045859 biolink:NamedThing regulation of protein kinase activity Any process that modulates the frequency, rate or extent of protein kinase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020600 biolink:NamedThing acute pharyngitis An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. tmpak2llvmy_mondo_relaxed.owl pharyngitis, acute|acute pharyngitis SCTID:363746003|NCIT:C34355 owl:Class MONDO:0019917 biolink:NamedThing maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. tmpak2llvmy_mondo_relaxed.owl uniparental disomy, maternal, chromosome 20|MBCS|maternal uniparental disomy of chromosome type 20|UPD(20)mat|MULCHANDANI-BHOJ-CONLIN syndrome|maternal UPD(20) DOID:0111714|OMIM:617352|Orphanet:96186|SCTID:715735007|ICD10:Q99.8 owl:Class MONDO:0001088 biolink:NamedThing acute inferoposterior infarction tmpak2llvmy_mondo_relaxed.owl acute myocardial infarction of inferoposterior wall|acute inferoposterior infarction|acute inferoposterior myocardial infarction ICD9:410.31|DOID:10648|UMLS:C0340304|ICD9:410.30|ICD9:410.32|SCTID:76593002 Editor note: TODO: positional superclass owl:Class MONDO:0015818 biolink:NamedThing aggressive primary cutaneous B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl Orphanet:178554 owl:Class MONDO:0015820 biolink:NamedThing primary cutaneous B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl Orphanet:178563|UMLS:C1274310|SCTID:402881008|ICD9:202.80 owl:Class GO:1903487 biolink:NamedThing regulation of lactation Any process that modulates the frequency, rate or extent of lactation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015205 biolink:NamedThing isolated lissencephaly type 1 without known genetic defects Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226623|Orphanet:1084|SCTID:715406003|ICD10:Q04.3|UMLS:C4275151 owl:Class HGNC:16255 biolink:NamedThing TGM6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000349 biolink:NamedThing negative regulation of CD40 signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpak2llvmy_mondo_relaxed.owl negative regulation of CD40 signalling pathway owl:Class GO:2000348 biolink:NamedThing regulation of CD40 signaling pathway Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of CD40 signalling pathway owl:Class UBERON:0007177 biolink:NamedThing lamina propria of mucosa of colon A lamina propria that is part of a colonic mucosa. tmpak2llvmy_mondo_relaxed.owl lamina propria of colonic mucosa|lamina propria mucosae of colon|lamina propria of colonic mucous membrane|colonic lamina propria owl:Class UBERON:0011189 biolink:NamedThing lamina propria of large intestine A lamina propria that is part of a large intestine. tmpak2llvmy_mondo_relaxed.owl lamina propria of mucosa of large intestine|large intestinal lamina propria|large intestine lamina propria owl:Class MONDO:0003237 biolink:NamedThing adenomyoma of uterine corpus A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. tmpak2llvmy_mondo_relaxed.owl uterine corpus adenomyoma|body of uterus adenomyoma|adenomyoma of the uterine corpus|adenomyoma of corpus uteri|adenomyoma of uterine corpus|corpus uteri adenomyoma|adenomyoma of the body of uterus|adenomyoma of uterine body|adenomyoma of the corpus uteri|uterine body adenomyoma|adenomyoma of the uterine body|adenomyoma of body of uterus NCIT:C6338|UMLS:C1336903|DOID:4994 owl:Class UBERON:0004699 biolink:NamedThing outflow tract endothelium An endothelium that is part of a outflow tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007200 biolink:NamedThing blepharonasofacial malformation syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. tmpak2llvmy_mondo_relaxed.owl Pashayan-Prozansky syndrome|blepharonasofacial malformation syndrome|Pashayan syndrome ICD10:Q87.0|SCTID:717913006|GARD:0004238|Orphanet:1252|MESH:C536303|UMLS:C0796197|OMIM:110050 https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome owl:Class MONDO:0017832 biolink:NamedThing mycobacterium xenopi infection A disease caused by infection with Mycobacterium xenopi. tmpak2llvmy_mondo_relaxed.owl Mycobacterium xenopi caused disease or disorder|M. xenopi|Mycobacterium xenopi disease or disorder|Mycobacterium xenopi infectious disease|Mycobacterium xenopi UMLS:C0275715|GARD:0010550|Orphanet:314946|ICD10:A31.8 owl:Class MONDO:0020590 biolink:NamedThing mycobacterial infectious disease Infection due to organisms from the genus Mycobacteria. tmpak2llvmy_mondo_relaxed.owl mycobacterial infection|mycobacterium infection|mycobacteriosis NCIT:C26831|MESH:D009164|UMLS:C0026918|SCTID:88415009 owl:Class UBERON:0005057 biolink:NamedThing immune organ An organ that is part of a immune system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl immune system organ owl:Class MONDO:0015674 biolink:NamedThing late infantile neuronal ceroid lipofuscinosis Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. tmpak2llvmy_mondo_relaxed.owl late infantile NCL|Jansky-Bielschowsky disease|dollinger-Bielschowsky syndrome|amaurotic idiocy early juvenile type|late infantile neuronal ceroid lipofuscinosis|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|amaurotic idiocy late infantile type|Bielschowsky-jansky disease|LINCL|amaurotic idiocy, early juvenile type|late-infantile neuronal ceroid lipofuscinosis|amaurotic idiocy, late infantile type ICD10:E75.4|Orphanet:168491|SCTID:14637005 owl:Class MONDO:0013516 biolink:NamedThing retinitis pigmentosa 60 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa|RP60|retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6 ICD10:H35.5|UMLS:C3151434|OMIM:613983|DOID:0110411 owl:Class MONDO:0001742 biolink:NamedThing interval angle-closure glaucoma tmpak2llvmy_mondo_relaxed.owl angle-closure glaucoma, subacute|intermittent angle-closure glaucoma|prodromal angle closure glaucoma UMLS:C0154945|ICD9:365.21|DOID:13549|ICD10:H40.23|SCTID:65460003 owl:Class GO:0035774 biolink:NamedThing positive regulation of insulin secretion involved in cellular response to glucose stimulus Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpak2llvmy_mondo_relaxed.owl positive regulation of insulin secretion in response to glucose owl:Class GO:0061178 biolink:NamedThing regulation of insulin secretion involved in cellular response to glucose stimulus Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpak2llvmy_mondo_relaxed.owl regulation of insulin secretion in response to glucose owl:Class UBERON:0004245 biolink:NamedThing oviduct smooth muscle A portion of smooth muscle tissue that is part of a fallopian tube [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl involuntary muscle of fallopian tube|fallopian tube involuntary muscle|fallopian tube smooth muscle tissue|fallopian tube non-striated muscle|non-striated muscle of fallopian tube|smooth muscle tissue of fallopian tube|smooth muscle of fallopian tube|fallopian tube smooth muscle owl:Class MONDO:0004229 biolink:NamedThing acantholytic variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. tmpak2llvmy_mondo_relaxed.owl squamous cell breast carcinoma, acantholytic variant EFO:1001969|NCIT:C40359|UMLS:C1519485|DOID:7459 owl:Class GO:0006665 biolink:NamedThing sphingolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl sphingolipid metabolism owl:Class CHEBI:35106 biolink:NamedThing nitrogen hydride tmpak2llvmy_mondo_relaxed.owl nitrogen hydrides owl:Class MONDO:0020863 biolink:NamedThing laryngeal diphtheria Infection of the larynx by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl Diphtheritic laryngotracheitis|diphtheritic laryngotracheitis|Laryngeal Diphtheria|Laryngeal diphtheria|laryngeal diphtheria SCTID:50215002|UMLS:C0012557|NCIT:C34546|ICD9:032.3 owl:Class MONDO:0002931 biolink:NamedThing conjunctivochalasis tmpak2llvmy_mondo_relaxed.owl SCTID:408663001|DOID:4250|UMLS:C0878693|ICD10:H11.82|ICD9:372.81 owl:Class CHEBI:132153 biolink:NamedThing hyaluronate A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl hyaluronate polyanion|hyaluronan owl:Class GO:0042754 biolink:NamedThing negative regulation of circadian rhythm Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. tmpak2llvmy_mondo_relaxed.owl inhibition of circadian rhythm|downregulation of circadian rhythm|down-regulation of circadian rhythm|down regulation of circadian rhythm owl:Class MONDO:0017526 biolink:NamedThing polydactyly of a triphalangeal thumb, bilateral tmpak2llvmy_mondo_relaxed.owl bilateral PPD2|preaxial polydactyly type 2, bilateral UMLS:CN203257|ICD10:Q69.1|Orphanet:295150 owl:Class MONDO:0008270 biolink:NamedThing polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. tmpak2llvmy_mondo_relaxed.owl triphalangeal thumb-polydactyly syndrome|polydactyly, preaxial II|triphalangeal thumb-polysyndactyly syndrome|triphalangeal thumb with polysyndactyly|triphalangeal thumb|TPT-PS syndrome|preaxial polydactyly type 2|polydactyly of triphalangeal thumb|PPD2|polydactyly, preaxial type 2|polydactyly, preaxial 2 ICD10:Q69.1|GARD:0005289|OMIM:174500|UMLS:C1868114|SCTID:715710001|Orphanet:93336 owl:Class GO:1903317 biolink:NamedThing regulation of protein maturation Any process that modulates the frequency, rate or extent of protein maturation. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38700 biolink:NamedThing organic sodium salt tmpak2llvmy_mondo_relaxed.owl organic sodium salts|organic sodium salt owl:Class GO:0008240 biolink:NamedThing tripeptidyl-peptidase activity Catalysis of the release of an N-terminal tripeptide from a polypeptide. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0031192 biolink:NamedThing Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). tmpak2llvmy_mondo_relaxed.owl 2017-06-24 14:10:09+00:00 peter human_phenotype owl:Class HP:0030681 biolink:NamedThing Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). tmpak2llvmy_mondo_relaxed.owl UMLS:C4073289 human_phenotype owl:Class MONDO:0044995 biolink:NamedThing parasympathetic nervous system disease A disease or disorder that involves the parasympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl parasympathetic nervous system disease or disorder|disease or disorder of parasympathetic nervous system|disease of parasympathetic nervous system|parasympathetic nervous system disease|disorder of parasympathetic nervous system SCTID:46091002 owl:Class MONDO:0017272 biolink:NamedThing autosomal ichthyosis syndrome with prominent neurologics signs tmpak2llvmy_mondo_relaxed.owl autosomal ichthyosis syndrome with prominent neurologic signs 2022-03-01 UMLS:CN202793|Orphanet:281238 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class UBERON:0002191 biolink:NamedThing subiculum Part of the hippocampal formation that is bounded by the entorhinal cortex and area CA1. It is characterized on the CA1 border by an abrupt widening of the pyramidal cell layer. A molecular layer is present that is continuous with that of CA1, although the stratum radiatum is no longer present. The stratum oriens is also not present. adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 468) tmpak2llvmy_mondo_relaxed.owl subicular cortex|subiculum hippocampi|subiculum cornu ammonis|gyrus parahippocampalis owl:Class MONDO:0011457 biolink:NamedThing ataxia-telangiectasia-like disorder An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. tmpak2llvmy_mondo_relaxed.owl ATLD1|ataxia-telangiectasia-like disorder type 1|ataxia - telangiectasia-like disorder|ATLD|ataxia-telangiectasia-like disorder 1 UMLS:CN239583|OMIMPS:604391|ICD10:G11.3|ICD9:334.8|SCTID:700058006|MESH:C565779 owl:Class UBERON:0004941 biolink:NamedThing submucosa of right hepatic duct A submucosa that is part of a right hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right hepatic ductal submucosa|right hepatic duct submucosa owl:Class MONDO:0024545 biolink:NamedThing Miyoshi muscular dystrophy 1 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. tmpak2llvmy_mondo_relaxed.owl DYSF Miyoshi myopathy|Miyoshi myopathy|MIYOSHI muscular dystrophy 1|Miyoshi myopathy caused by mutation in DYSF|muscular dystrophy, distal, late-onset, autosomal recessive|MMD1 GARD:0009676|UMLS:C1850808|OMIM:254130|DOID:0070199 https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy owl:Class MONDO:0016145 biolink:NamedThing qualitative or quantitative defects of dysferlin tmpak2llvmy_mondo_relaxed.owl dysferlinopathy GARD:0002003|UMLS:C2931687|MESH:C537995|GARD:0002031|Orphanet:207073 owl:Class MONDO:0016222 biolink:NamedThing spindle cell hemangioma Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. tmpak2llvmy_mondo_relaxed.owl spindle cell hemangioendothelioma|spindle -cell hemangioma|spindle cell hemangioma|SCh DOID:496|UMLS:C1304508|ICDO:9136/1|EFO:0002856|ICD10:D18.0|SCTID:403967000|Orphanet:210584|NCIT:C4754|ICDO:9136/0 owl:Class MONDO:0008159 biolink:NamedThing postmenopausal osteoporosis Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. tmpak2llvmy_mondo_relaxed.owl osteoporosis, postmenopausal|bone mineral density quantitative trait locus MESH:D015663|SCTID:102447009|UMLS:C0029458|EFO:0003854 owl:Class MONDO:0006606 biolink:NamedThing scleredema adultorum A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. tmpak2llvmy_mondo_relaxed.owl scleredema Diabeticorum of Buschke|Buschke's scleredema|scleredema, Buschke's|Diabeticorum, scleredema|Scleredemas|Buschke scleredema adultorum|scleredema adultorum of Buschke|scleredema|scleredema Diabeticorums|Buschke scleredema|Buschkes scleredema|Diabeticorums, scleredema|Buschke scleredema Diabeticorum|scleredema Diabeticorum|scleredema adultorum EFO:1000762|DOID:3140|MESH:D012592|UMLS:C0036413|NCIT:C85057 owl:Class MONDO:0019461 biolink:NamedThing B-cell prolymphocytic leukemia A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. tmpak2llvmy_mondo_relaxed.owl BPLL|B prolymphocytic leukemia|B-PLL|B-cell prolymphocytic leukemia Orphanet:86852|ICD10:C91.3|SCTID:277619001|UMLS:C0475801|ICDO:9833/3|EFO:1000102|MESH:D054403|NCIT:C4753|ONCOTREE:BPLL owl:Class MONDO:0017765 biolink:NamedThing disorder of magnesium transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. tmpak2llvmy_mondo_relaxed.owl inborn error of magnesium ion transport|inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport UMLS:CN227207|Orphanet:309848|ICD10:E83.4 owl:Class GO:1902645 biolink:NamedThing tertiary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of tertiary alcohol. tmpak2llvmy_mondo_relaxed.owl tertiary alcohol anabolism|tertiary alcohol biosynthesis|tertiary alcohol formation|tertiary alcohol synthesis owl:Class MONDO:0013205 biolink:NamedThing corneal dystrophy, fuchs endothelial, 5 tmpak2llvmy_mondo_relaxed.owl FECD5|corneal dystrophy, Fuchs endothelial, 5|Fcd3 locus|corneal dystrophy, Fuchs endothelial, late-onset UMLS:C2750449|OMIM:613269 owl:Class MONDO:0013356 biolink:NamedThing vesicoureteral reflux 3 Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux type 3|SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux 3|VUR3|vesicoureteral reflux (disease) caused by mutation in SOX17 OMIM:613674|UMLS:C3150927 owl:Class MONDO:0005232 biolink:NamedThing large cell carcinoma A malignant epithelial neoplasm composed of large, atypical cells. tmpak2llvmy_mondo_relaxed.owl carcinoma, large cell|large cell carcinoma MESH:D018287|NCIT:C3780|UMLS:C0206704|ICDO:8012/3|DOID:4552 owl:Class CL:0000789 biolink:NamedThing alpha-beta T cell A T cell that expresses an alpha-beta T cell receptor complex. tmpak2llvmy_mondo_relaxed.owl alpha-beta T-lymphocyte|alpha-beta T-cell|alpha-beta T lymphocyte cell owl:Class CL:0002059 biolink:NamedThing CD8alpha-positive thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-positive. tmpak2llvmy_mondo_relaxed.owl CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th tmeehan 2010-06-07T02:48:36Z cell owl:Class NCBITaxon:28568 biolink:NamedThing Trichocomaceae tmpak2llvmy_mondo_relaxed.owl Eurotiaceae GC_ID:1 NCBITaxon:34380 ncbi_taxonomy owl:Class MONDO:0015409 biolink:NamedThing isolated congenital syngnathia Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. tmpak2llvmy_mondo_relaxed.owl isolated congenital maxillomandibular fusion Orphanet:141214|ICD10:Q67.4|SCTID:763317002 owl:Class MONDO:0010350 biolink:NamedThing premature ovarian failure 2A Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 2A|primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure type 2A|DIAPH2 primary ovarian failure|POF2A UMLS:C1845293|MESH:C564498|OMIM:300511 owl:Class MONDO:0032841 biolink:NamedThing Usher syndrome, type 1M tmpak2llvmy_mondo_relaxed.owl USH1M|USHER SYNDROME, TYPE 1M OMIM:618632 owl:Class GO:0001775 biolink:NamedThing cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009521 biolink:NamedThing leukemia, acute myelocytic, with polyposis coli and colon cancer tmpak2llvmy_mondo_relaxed.owl leukemia, acute myelocytic, with polyposis coli and colon cancer UMLS:C1855505|MESH:C565441|OMIM:246470 owl:Class MONDO:0001266 biolink:NamedThing erysipelas An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. tmpak2llvmy_mondo_relaxed.owl ICD10:A46|ICD9:035|EFO:1001462|DOID:11330|UMLS:C0014733|MESH:D004886|HP:0001055|SCTID:44653001|GARD:0006370 The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes https://rarediseases.info.nih.gov/diseases/6370/erysipelas owl:Class MONDO:0001325 biolink:NamedThing penile cancer A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. tmpak2llvmy_mondo_relaxed.owl penile neoplasm|malignant penis neoplasm|penis cancer|malignant neoplasm of penis|malignant neoplasm of body of penis|malignant tumor of penis|malignant tumor of the penis|malignant penile tumor|penile cancer|cancer of penis|malignant penile neoplasm|penile Ca|Ca penis|malignant neoplasm of the penis UMLS:CN226091|ICD9:187.4|ICD10:C60.1|ICD10:C60|ICD10:C60.2|NCIT:C7547|DOID:11615|ICD10:C60.0|ICD9:187.3|SCTID:363516004|ICD10:C60.8|Orphanet:398043|ICD10:C60.9 owl:Class MONDO:0009393 biolink:NamedThing ornithine translocase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction. tmpak2llvmy_mondo_relaxed.owl triple H syndrome|HHH syndrome|Hhh syndrome|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|ornithine carrier deficiency|ornithine translocase deficiency syndrome|HHHS|HHH|ornithine translocase deficiency|ORNT1 deficiency MESH:C538380|ICD10:E72.4|UMLS:C0268540|Orphanet:415|SCTID:30287008|OMIM:238970|GARD:0002830|DOID:0050720|NCIT:C129029 owl:Class MONDO:0013506 biolink:NamedThing schizophrenia 16 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. tmpak2llvmy_mondo_relaxed.owl SCZD16|schizophrenia susceptibility locus, chromosome 7Q36.3-related|schizophrenia 16|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia type 16 UMLS:C3151408|OMIM:613959|DOID:0070092 owl:Class MONDO:0018002 biolink:NamedThing adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. tmpak2llvmy_mondo_relaxed.owl adult-onset CPEO with mitochondrial myopathy ICD10:G71.3|Orphanet:329336|SCTID:725464001|UMLS:C4511138 owl:Class MONDO:0018962 biolink:NamedThing common mesentery tmpak2llvmy_mondo_relaxed.owl universal mesentery ICD10:Q43.3|SCTID:52159006|UMLS:C0266235|Orphanet:620 owl:Class MONDO:0015211 biolink:NamedThing non-syndromic intestinal malformation A intestinal malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated intestinal malformation|nonsyndromic intestinal malformation Orphanet:108967 owl:Class MONDO:0011868 biolink:NamedThing lethal congenital contracture syndrome 2 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. tmpak2llvmy_mondo_relaxed.owl LCCS2|multiple contracture syndrome, Israeli-Bedouin type|multiple contracture syndrome, Israeli Bedouin type a|lethal congenital contracture syndrome type 2|lethal congenital contracture syndrome 2|ERBB3 lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type|lethal congenital contracture syndrome caused by mutation in ERBB3 SCTID:715419004|OMIM:607598|GARD:0009177|DOID:0060560|ICD10:Q68.8|UMLS:C1843478|Orphanet:137776|MESH:C564369|UMLS:C4275145 https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 owl:Class MONDO:0010919 biolink:NamedThing varicella, severe recurrent tmpak2llvmy_mondo_relaxed.owl varicella, severe recurrent OMIM:600670|MESH:C563458|UMLS:C1833487 owl:Class CHEBI:33552 biolink:NamedThing sulfonic acid derivative tmpak2llvmy_mondo_relaxed.owl derivatives of sulfonic acid|sulfonic acid derivative|sulfonic acid derivatives owl:Class MONDO:0018503 biolink:NamedThing carcinoma of stomach, salivary gland type tmpak2llvmy_mondo_relaxed.owl gastric carcinoma, salivary gland type ICD10:C16.2|ICD10:C16.1|ICD10:C16.6|ICD10:C16.0|ICD10:C16.8|UMLS:CN237508|Orphanet:423781|ICD10:C16.5|ICD10:C16.3|ICD10:C16.4 owl:Class UBERON:0006311 biolink:NamedThing chamber of eyeball A segment of the eyeball that is filled with refractive media tmpak2llvmy_mondo_relaxed.owl eyeball chamber|chamber of eye|eye chamber owl:Class MONDO:0008568 biolink:NamedThing thyroid hormone plasma membrane transport defect tmpak2llvmy_mondo_relaxed.owl hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|defect|thyroid hormone resistance due to T4 plasma Membrane Transport defect|thyroid hormone plasma membrane transport defect MESH:C536916|UMLS:C1861101|GARD:0008499|OMIM:188560 https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect owl:Class MONDO:0008660 biolink:NamedThing autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. tmpak2llvmy_mondo_relaxed.owl hereditary hypophosphatemic rickets, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|autosomal dominant hypophosphatemia|hypophosphatemic rickets, autosomal dominant|hypophosphatemia, autosomal dominant|ADHR|autosomal dominant hypophosphatemic rickets|autosomal dominant hereditary hypophosphatemic rickets UMLS:C0342642|ICD10:E83.3|OMIM:193100|MESH:C562791|DOID:0050948|SCTID:237889002|Orphanet:89937 owl:Class MONDO:0015407 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 3 tmpak2llvmy_mondo_relaxed.owl CAMS3 SCTID:703268008|UMLS:C3838691|Orphanet:141199|UMLS:CN199502|ICD10:Q28.2 owl:Class UBERON:0006615 biolink:NamedThing venous sinus A large vein or channel for the circulation of venous blood tmpak2llvmy_mondo_relaxed.owl blood sinus owl:Class MONDO:0005842 biolink:NamedThing maxillary sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. tmpak2llvmy_mondo_relaxed.owl SCTID:88348008|MESH:D015523|DOID:2051|ICD10:J32.0|NCIT:C34809|UMLS:C0024959|EFO:0007361 owl:Class NCBITaxon:103828 biolink:NamedThing Thelaziidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013589 biolink:NamedThing focal segmental glomerulosclerosis 6 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. tmpak2llvmy_mondo_relaxed.owl focal segmental glomerulosclerosis 6|focal segmental glomerulosclerosis type 6|glomerulosclerosis, focal segmental, 6|FSGS6|focal segmental glomerulosclerosis caused by mutation in MYO1E|MYO1E focal segmental glomerulosclerosis DOID:0111131|OMIM:614131|ICD10:N04.1|UMLS:C3279905 owl:Class UBERON:0005637 biolink:NamedThing pyloric region epithelium An epithelium that is part of a pylorus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005791 biolink:NamedThing herpangina A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. tmpak2llvmy_mondo_relaxed.owl vesicular pharyngitis MESH:D006557|ICD9:074.0|SCTID:274102007|DOID:10883|ICD10:B08.5|EFO:0007306|UMLS:C0019338 owl:Class HGNC:26703 biolink:NamedThing SYNE4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032876 biolink:NamedThing neurodevelopmental disorder with absent language and variable seizures tmpak2llvmy_mondo_relaxed.owl Ito-Raymond Syndrome|NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES|NEDALVS OMIM:618707 owl:Class MONDO:0015082 biolink:NamedThing alopecia antibody deficiency tmpak2llvmy_mondo_relaxed.owl IPP-Gelfand syndrome Orphanet:1006 owl:Class HP:0031797 biolink:NamedThing Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. tmpak2llvmy_mondo_relaxed.owl Natural history of disease 2018-02-25 14:55:46+00:00 peter human_phenotype owl:Class ENVO:00001999 biolink:NamedThing marine water body A significant accumulation of water which is part of a marine biome. tmpak2llvmy_mondo_relaxed.owl body of marine water|marine waterbody owl:Class ENVO:01000617 biolink:NamedThing lentic water body A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003943 biolink:NamedThing central nervous system hibernoma A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. tmpak2llvmy_mondo_relaxed.owl hibernoma of the central nervous system|nervous system hibernoma|hibernoma of central nervous system|hibernoma of nervous system|central nervous system hibernoma UMLS:C1708362|DOID:6607|NCIT:C6997 owl:Class MONDO:0007586 biolink:NamedThing exostoses, multiple, type 2 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. tmpak2llvmy_mondo_relaxed.owl exostoses (Multiple) 2 Gene|EXT2 exostoses, multiple|exostoses, multiple, type II|Ext2|exostoses, multiple, type 2|exostoses, multiple caused by mutation in EXT2|EXT2 Gene GARD:0002205|NCIT:C18252|UMLS:C1851413|OMIM:133701 https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 owl:Class MONDO:0032686 biolink:NamedThing spermatogenic failure 35 tmpak2llvmy_mondo_relaxed.owl SPERMATOGENIC FAILURE 35|SPGF35 OMIM:618341 owl:Class HGNC:11654 biolink:NamedThing TCOF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003898 biolink:NamedThing pediatric myxoid chondrosarcoma A myxoid chondrosarcoma occurring in children. tmpak2llvmy_mondo_relaxed.owl myxoid chondrosarcoma of childhood|childhood myxoid chondrosarcoma|pediatric myxoid chondrosarcoma UMLS:C1332984|DOID:6494|NCIT:C27377 owl:Class MONDO:0003681 biolink:NamedThing myxoid chondrosarcoma A chondrosarcoma characterized by the presence of myxoid changes. tmpak2llvmy_mondo_relaxed.owl myxoid chondrosarcoma|MYCHS UMLS:C0334551|NCIT:C4303|ICDO:9231/3|DOID:5861|ONCOTREE:MYCHS owl:Class MONDO:0014473 biolink:NamedThing microcephaly 13, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. tmpak2llvmy_mondo_relaxed.owl microcephaly 13, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CENPE|MCPH13|CENPE autosomal recessive primary microcephaly OMIM:616051|DOID:0070283|UMLS:C4015080 owl:Class MONDO:0009774 biolink:NamedThing cloacal exstrophy A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. tmpak2llvmy_mondo_relaxed.owl OEIS syndrome|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|OEIS complex|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|cloacal exstrophy|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|cloacal exstrophy sequence|omphalocele-exstrophy-imperforate anus-spinal defects|cloacal exstrophy (disease) cloacal exstrophy (disease) GARD:0004080|DOID:0080175|UMLS:C1850321|NCIT:C99142|ICD10:Q64.1|ICD9:759.89|MESH:C537748|MedDRA:10067424|OMIM:258040|Orphanet:93929|HP:0010475|SCTID:20815007 owl:Class MONDO:0016303 biolink:NamedThing congenitally uncorrected transposition of the great arteries with cardiac malformation tmpak2llvmy_mondo_relaxed.owl TGA with cardiac malformation|congenitally uncorrected transposition of the great vessels with cardiac malformation ICD10:Q20.3|Orphanet:216729 owl:Class HP:0003521 biolink:NamedThing Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. tmpak2llvmy_mondo_relaxed.owl Disproportionate short-trunked short stature|Short-trunked dwarfism|Disproportionate short-trunked dwarfism UMLS:C1846435 HP:0001524|HP:0008923|HP:0003500 human_phenotype owl:Class HP:0003498 biolink:NamedThing Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. tmpak2llvmy_mondo_relaxed.owl Short stature, disproportionate|Short stature, severe disproportionate UMLS:C1846797|UMLS:C0878659 HP:0008895|HP:0008900 human_phenotype owl:Class GO:0002292 biolink:NamedThing T cell differentiation involved in immune response The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. tmpak2llvmy_mondo_relaxed.owl T cell differentiation during immune response|T cell development involved in immune response|T-lymphocyte differentiation during immune response|T lymphocyte differentiation during immune response|T-cell differentiation during immune response owl:Class MONDO:0014285 biolink:NamedThing congenital dyserythropoietic anemia type type 1B tmpak2llvmy_mondo_relaxed.owl congenital dyserythropoietic anemia type type 1B|CDA, type IB|CDAN1B|anemia, congenital dyserythropoietic, type IB UMLS:C3810185|OMIM:615631|DOID:0111397 owl:Class MONDO:0020337 biolink:NamedThing congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. tmpak2llvmy_mondo_relaxed.owl CDA I|anemia, dyserythropoietic, congenital type 1|dyserythropoietic anemia, congenital type 1|CDA type I|congenital dyserythropoietic anemia type 1|CDA type 1|type I congenital dyserythropoietic anemia GARD:0002000|Orphanet:98869|DOID:0111396|SCTID:59548005|ICD10:D64.4 owl:Class MONDO:0009706 biolink:NamedThing hereditary myopathy with lactic acidosis due to ISCU deficiency Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. tmpak2llvmy_mondo_relaxed.owl iron-sulfur cluster deficiency myopathy|myopathy with lactic acidosis, hereditary|HML|myopathy with exercise intolerance, Swedish type|aconitase deficiency|ISCU myopathy|myoglobinuria due to abnormal glycolysis|myopathy with deficiency of succinate dehydrogenase and aconitase OMIM:255125|SCTID:699268002|ICD9:259.8|MESH:C564972|UMLS:C1850718|Orphanet:43115|ICD10:G71.3 owl:Class MONDO:0013934 biolink:NamedThing combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). tmpak2llvmy_mondo_relaxed.owl Mst1 deficiency|STK4 deficiency|Cid due to STK4 deficiency|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|TIIAC ICD10:D81.8|Orphanet:314689|OMIM:614868|UMLS:C3553943 owl:Class MONDO:0003098 biolink:NamedThing mediastinal neural neoplasm A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. tmpak2llvmy_mondo_relaxed.owl neurogenic tumor of mediastinum|malignant mediastinal neurogenic neoplasm|neurogenic tumor of the mediastinum|mediastinal neurogenic tumor|mediastinal neural tumor|mediastinal neurogenic neoplasm|neurogenic neoplasm of the mediastinum|neurogenic neoplasm of mediastinum|mediastinal neural neoplasm NCIT:C6624|DOID:4691|UMLS:C1334672 owl:Class UBERON:0000993 biolink:NamedThing oviduct A tube or collection of tubes in an animal from the ovaries to the outside of the body. tmpak2llvmy_mondo_relaxed.owl tuba uterinae|female reproductive tracts|uterine tube|tubular parts of female reproductive system|ovarian tube|ovarian duct|tuba uterina|oviducts owl:Class MONDO:0020375 biolink:NamedThing coralliform cataract tmpak2llvmy_mondo_relaxed.owl ICD10:Q12.0|Orphanet:98990|UMLS:CN207246 owl:Class UBERON:0009631 biolink:NamedThing root of lumbar spinal nerve A spinal nerve root that is part of a lumbar nerve. tmpak2llvmy_mondo_relaxed.owl lumbar spinal neural root|lumbar spinal nerve root|nerve root part of lumbar spinal cord owl:Class MONDO:0004087 biolink:NamedThing basaloid large cell lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. tmpak2llvmy_mondo_relaxed.owl basaloid large cell lung carcinoma|basaloid large cell carcinoma of the lung|basaloid lung carcinoma ONCOTREE:BLCLC|UMLS:C1332463|NCIT:C7266|DOID:7045 owl:Class MONDO:0006102 biolink:NamedThing basaloid carcinoma A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading. tmpak2llvmy_mondo_relaxed.owl basaloid carcinoma ICDO:8123/3|EFO:1000105|NCIT:C4121 owl:Class MONDO:0019256 biolink:NamedThing sterol metabolism disorder An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. tmpak2llvmy_mondo_relaxed.owl inborn error of sterol metabolic process|inborn sterol metabolic process disorder|rare inborn error of sterol metabolic process Orphanet:79226|UMLS:CN227607 owl:Class MONDO:0015748 biolink:NamedThing hereditary mucosal leukokeratosis White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. tmpak2llvmy_mondo_relaxed.owl White sponge nevus of Cannon|white sponge nevus of Cannon|white sponge nevus|hereditary mucosal leukokeratosis MESH:D053529|DOID:0050448|ICD10:Q38.6|GARD:0008501|ICD9:528.6|Orphanet:171723|OMIMPS:193900|NCIT:C84760|UMLS:C1721005|SCTID:389203001 owl:Class MONDO:0022560 biolink:NamedThing benign metastasizing leiomyoma A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord. tmpak2llvmy_mondo_relaxed.owl GARD:0010776 owl:Class UBERON:0001417 biolink:NamedThing skin of neck A zone of skin that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neck skin|neck zone of skin|zone of skin of neck (volume)|neck (volume) zone of skin|zone of skin of neck owl:Class UBERON:0012180 biolink:NamedThing head or neck skin A zone of skin that is part of a craniocervical region. tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000404 biolink:NamedThing stretch reflex "A muscle contraction in response to stretching within the muscle." [wikipedia:Stretch_reflex] tmpak2llvmy_mondo_relaxed.owl deep tendon reflex owl:Class MONDO:0014161 biolink:NamedThing vesicoureteral reflux 7 tmpak2llvmy_mondo_relaxed.owl VUR7|vesicoureteral reflux 7 OMIM:615390|UMLS:C3809337 owl:Class MONDO:0015013 biolink:NamedThing retinitis pigmentosa 77 Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene. tmpak2llvmy_mondo_relaxed.owl RP77|retinitis pigmentosa caused by mutation in REEP6|retinitis pigmentosa 77|retinitis pigmentosa type 77|REEP6 retinitis pigmentosa ICD10CM:H35.5|OMIM:617304|UMLS:C4310626|DOID:0080350 owl:Class HGNC:8790 biolink:NamedThing PDE6H tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017430 biolink:NamedThing non-syndromic congenital joint dislocations tmpak2llvmy_mondo_relaxed.owl congenital joint dislocations Orphanet:294951 owl:Class MONDO:0033043 biolink:NamedThing spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy tmpak2llvmy_mondo_relaxed.owl spastic ataxia 8|SPAX8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy DOID:0080252|UMLS:C4479653|OMIM:617560|Orphanet:527497 owl:Class HGNC:3169 biolink:NamedThing S1PR2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903566 biolink:NamedThing positive regulation of protein localization to cilium Any process that activates or increases the frequency, rate or extent of protein localization to cilium. tmpak2llvmy_mondo_relaxed.owl up regulation of protein localization to cilium|activation of protein localization to cilium|up-regulation of protein localization to cilium|upregulation of protein localization to cilium owl:Class MONDO:0012842 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl CMM7|melanoma, cutaneous malignant, susceptibility to, 7 OMIM:612263 owl:Class MONDO:0018773 biolink:NamedThing autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:476093|UMLS:CN776822 owl:Class MONDO:0006850 biolink:NamedThing maxillary sinus neoplasm A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl maxillofacial sinus neoplasm|neoplasm of the maxillary antrum|maxillary antrum tumor|neoplasm of maxillofacial sinus|tumor of maxillofacial sinus|neoplasm of maxillary antrum|maxillary sinus neoplasm (disease)|tumor of maxillary sinus|maxillary sinus neoplasm|maxillofacial sinus tumor|neoplasm of maxillary sinus|tumor of the maxillary antrum|tumor of maxillary antrum|neoplasm of the maxillofacial sinus|maxillary antrum neoplasm|neoplasm of the maxillary sinus|maxillary sinus tumor|tumor of the maxillofacial sinus|tumor of the maxillary sinus NCIT:C3219|UMLS:C0024958|MESH:D008444|EFO:1001035|SCTID:126676009|DOID:1358|MedDRA:10026130 MONDO:0021213 owl:Class CHEBI:17602 biolink:NamedThing 4-aminophenol An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group. tmpak2llvmy_mondo_relaxed.owl 4-Aminobenzenol|p-hydroxyaniline|p-Aminophenol|4-AMINOPHENOL|4-aminophenol|4-Hydroxyaniline|4-Aminophenol owl:Class MONDO:0011964 biolink:NamedThing DPAGT1-CDG DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 1j|carbohydrate deficient glycoprotein syndrome type Ij|DPAGT1-CDG (CDG-Ij)|CDG Ij|congenital disorder of glycosylation type Ij|CDGIj|CDG syndrome type Ij|CDG 1J|CDG1J|CDG-Ij|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation, type Ij OMIM:608093|MESH:C535748|GARD:0009837|DOID:0080562|UMLS:C2931004|ICD10:E77.8|Orphanet:86309|NCIT:C126874|SCTID:725079003 owl:Class MONDO:0000320 biolink:NamedThing glandular tularemia A tularemia that involves the lymph node. tmpak2llvmy_mondo_relaxed.owl lymph node tularemia DOID:0050382|UMLS:C0275974|SCTID:21857006 owl:Class MONDO:0016442 biolink:NamedThing elastoma tmpak2llvmy_mondo_relaxed.owl Weidman juvenile elastoma|Nevus elasticus|juvenile elastoma without osteopoikilosis UMLS:C0473583|Orphanet:228254|ICD9:215.9|SCTID:239140003 owl:Class MONDO:0016436 biolink:NamedThing acquired dermis elastic tissue disorder with increased elastic tissue tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:228224|UMLS:CN226929 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired dermis elastic tissue disorder' MONDO_0016434 owl:Class GO:0002690 biolink:NamedThing positive regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. tmpak2llvmy_mondo_relaxed.owl stimulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|positive regulation of leucocyte chemotaxis|upregulation of leukocyte chemotaxis|positive regulation of immune cell chemotaxis|activation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis owl:Class GO:0002687 biolink:NamedThing positive regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. tmpak2llvmy_mondo_relaxed.owl stimulation of leukocyte migration|positive regulation of leucocyte migration|up regulation of leukocyte migration|upregulation of leukocyte migration|activation of leukocyte migration|up-regulation of leukocyte migration|positive regulation of immune cell migration owl:Class MONDO:0016163 biolink:NamedThing autosomal dominant cerebellar ataxia type II tmpak2llvmy_mondo_relaxed.owl ADCAII|autosomal dominant cerebellar ataxia type II|ADCA2|autosomal dominant cerebellar ataxia type 2 UMLS:CN229031|Orphanet:208508 owl:Class HGNC:24154 biolink:NamedThing BMPER tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010153 biolink:NamedThing trichoodontoonychial dysplasia Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl trichoodontoonychial dysplasia with bone deficiency|trichoodontoonychial dysplasia with bone deficiency in frontoparietal region GARD:0005267|Orphanet:3355|SCTID:766813000|MESH:C564760|UMLS:C3502453|OMIM:275450 https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia owl:Class GO:2000610 biolink:NamedThing negative regulation of thyroid hormone generation Any process that stops, prevents or reduces the frequency, rate or extent of thyroid hormone generation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004642 biolink:NamedThing third ventricle ependyma An ependyma that is part of a third ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ependyma of third ventricle|3rd ventricle ependyma owl:Class SO:0001265 biolink:NamedThing miRNA_gene A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression. tmpak2llvmy_mondo_relaxed.owl miRNA gene|stRNA_gene|stRNA gene owl:Class MONDO:0015737 biolink:NamedThing typical nemaline myopathy Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. tmpak2llvmy_mondo_relaxed.owl typical congenital nemaline myopathy Orphanet:171436|ICD10:G71.2|GARD:0012822 owl:Class UBERON:0003553 biolink:NamedThing diencephalon pia mater A pia mater that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mature diencephalon pia mater of neuraxis|pia mater of between brain|between brain pia mater of neuraxis|pia mater of neuraxis of between brain|pia mater of neuraxis of mature diencephalon|pia mater of mature diencephalon|pia mater of neuraxis of diencephalon|pia mater of interbrain|diencephalon pia mater of neuraxis|pia mater of diencephalon|interbrain pia mater of neuraxis|mature diencephalon pia mater|between brain pia mater|interbrain pia mater|pia mater of neuraxis of interbrain owl:Class UBERON:0003290 biolink:NamedThing meninx of diencephalon A meninx that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl interbrain meninges|meninges of mature diencephalon|meninges of between brain|between brain meninx|mature diencephalon meninx|diencephalon meninx|meninges of interbrain|meninx of mature diencephalon|meninges of diencephalon|meninx of interbrain|between brain meninges|mature diencephalon meninges|meninx of between brain|diencephalon meninges|interbrain meninx owl:Class UBERON:0011589 biolink:NamedThing non-mineralized cartilage tissue Cartilage tissue that is not mineralized. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015789 biolink:NamedThing cranial or facial muscle tmpak2llvmy_mondo_relaxed.owl craniofacial muscle|cranio-facial muscle|cranial/facial muscle|cranial-facial muscle owl:Class MONDO:0045002 biolink:NamedThing vertebral disease A disease or disorder that involves the vertebra. tmpak2llvmy_mondo_relaxed.owl vertebra disease or disorder|vertebra disease|disorder of vertebra|disease of vertebra|disease or disorder of vertebra SCTID:430886005|UMLS:C2316319 owl:Class ENVO:01001548 biolink:NamedThing freezing A material congelation process during which a liquid turns into a solid when its temperature is lowered below its melting point. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018371 biolink:NamedThing nebulin-related early-onset distal myopathy tmpak2llvmy_mondo_relaxed.owl distal nebulin myopathy Orphanet:399103|ICD10:G71.0 owl:Class MONDO:0002321 biolink:NamedThing sensory peripheral neuropathy Inflammation or degeneration of the sensory nerves. tmpak2llvmy_mondo_relaxed.owl sensory nerve peripheral neuropathy|peripheral sensory neuropathy|sensory neuropathy|peripheral neuropathy of sensory nerve ICD9:356.2|DOID:2491|SCTID:95662005|NCIT:C3501|ICD9:356.9|UMLS:C0151313 owl:Class UBERON:0001318 biolink:NamedThing inferior vesical vein tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4193 biolink:NamedThing GCH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013550 biolink:NamedThing distal myopathy with posterior leg and anterior hand involvement Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. tmpak2llvmy_mondo_relaxed.owl myopathy, distal, type 4|MPD4|distal ABD-filaminopathy|myopathy, distal, 4|Williams distal myopathy UMLS:C3279722|SCTID:733489002|UMLS:C4518807|OMIM:614065|Orphanet:63273|ICD10:G71.0 owl:Class GO:2000543 biolink:NamedThing positive regulation of gastrulation Any process that activates or increases the frequency, rate or extent of gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002083 biolink:NamedThing type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. tmpak2llvmy_mondo_relaxed.owl noradrenergic chromaffin cell FMA:69321 tmeehan 2010-07-14T10:12:24Z cell owl:Class MONDO:0100011 biolink:NamedThing tendinosis The chronic degeneration of a tendon without inflammation. tmpak2llvmy_mondo_relaxed.owl 2018-07-17 15:58:43+00:00 SCTID:724152009 owl:Class MONDO:0100010 biolink:NamedThing tendinopathy Disorders that are causes by overuse of tendons. tmpak2llvmy_mondo_relaxed.owl tendon disease|disease of tendon|disorder of tendon|disease or disorder of tendon|tendon disease or disorder 2018-07-17 15:51:39+00:00 EFO:1001434|SCTID:68172002 owl:Class MONDO:0007800 biolink:NamedThing chromosome 18p deletion syndrome Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. tmpak2llvmy_mondo_relaxed.owl monosomy 18p|chromosome 18p deletion|18p- syndrome|chromosome 18p deletion syndrome|De Grouchy syndrome|18p-|monosomy type 18p|18P- syndrome|18P syndrome|deletion 18p syndrome ICD9:758.39|Orphanet:1598|OMIM:146390|DOID:0060406|UMLS:C0432442|SCTID:270890001|MESH:C538309|NCIT:C84521|ICD10:Q93.5|GARD:0008631 owl:Class UBERON:0008801 biolink:NamedThing parotid gland primordium tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048873 biolink:NamedThing homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048872 biolink:NamedThing homeostasis of number of cells Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. tmpak2llvmy_mondo_relaxed.owl cell population homeostasis|homeostasis of cell number owl:Class HP:0012795 biolink:NamedThing Abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. tmpak2llvmy_mondo_relaxed.owl UMLS:C3808249 The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. peter 2014-05-24T04:37:10Z human_phenotype owl:Class HP:0000587 biolink:NamedThing Abnormality of the optic nerve Abnormality of the optic nerve. tmpak2llvmy_mondo_relaxed.owl Optic nerve issue|optic nerve abnormalities UMLS:C0029131 The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. human_phenotype owl:Class SO:1000030 biolink:NamedThing chromosomal_inversion An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type. tmpak2llvmy_mondo_relaxed.owl (Drosophila)In|chromosomal inversion|(fungi)In|(bacteria)IN owl:Class SO:1000028 biolink:NamedThing intrachromosomal_mutation A chromosomal structure variation within a single chromosome. tmpak2llvmy_mondo_relaxed.owl intrachromosomal mutation owl:Class MONDO:0006091 biolink:NamedThing appendix neuroendocrine tumor G1 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl vermiform appendix carcinoid tumor (disease)|appendix neuroendocrine tumor G1 (carcinoid)|appendix carcinoid tumor|appendix NET G1|carcinoid tumor of appendix|vermiform appendix carcinoid tumor|appendiceal carcinoid tumor|appendix NET G1 (carcinoid)|vermiform appendix NET G1|grade 1 neuroendocrine neoplasm of vermiform appendix|appendix carcinoid endocrine tumour|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of the appendix|vermiform appendix neuroendocrine tumor, well differentiated, low grade SCTID:253002004|ICDO:8240/1|ICD9:209.11|DOID:0050911|UMLS:C0334298|NCIT:C4138|EFO:1000092 owl:Class MONDO:0006126 biolink:NamedThing cecum neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl caecum neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the cecum|caecum carcinoid tumor|caecal carcinoid tumor|carcinoid tumor of cecum|cecum neuroendocrine tumor G1|caecum neuroendocrine neoplasm G1|cecal carcinoid tumor|grade 1 neuroendocrine neoplasm of caecum|caecum NET G1|cecum carcinoid tumor|cecum NET G1|caecum carcinoid tumor (disease) UMLS:C0854488|EFO:1000154|NCIT:C5501 owl:Class MONDO:0021471 biolink:NamedThing benign neoplasm of endometrium A benign neoplasm that involves the endometrium. tmpak2llvmy_mondo_relaxed.owl benign endometrial neoplasm|benign tumor of endometrium|benign endometrial tumor|benign neoplasm of the endometrium|benign tumor of the endometrium|benign endometrium neoplasm|benign endometrium tumor|endometrium benign neoplasm SCTID:92086004|UMLS:C0686239|NCIT:C4894 owl:Class MONDO:0002347 biolink:NamedThing barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. tmpak2llvmy_mondo_relaxed.owl SCTID:231472009|ICD9:304.13|ICD9:304.11|DOID:2575 owl:Class MONDO:0016557 biolink:NamedThing leukonychia totalis Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. tmpak2llvmy_mondo_relaxed.owl total leukonychia|hereditary white nails ICD10:Q84.4|Orphanet:2387|GARD:0009759|MESH:C535889|SCTID:763792009 owl:Class UBERON:0008962 biolink:NamedThing forelimb bone A bone that is part of a forelimb region. Examples: humerus, any of the phalanges. Counter-example: scapula (a bone of the pectoral girdle). Note that we consider the forelimb to end at the shoulder. tmpak2llvmy_mondo_relaxed.owl free forelimb bone|wing bone owl:Class MONDO:0000463 biolink:NamedThing Ochoa syndrome Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. tmpak2llvmy_mondo_relaxed.owl hydronephrosis with peculiar facial expression|urofacial syndrome|UFS|partial facial palsy with urinary abnormalities|hydronephrosis-inverted smile syndrome|inverted smile and occult neuropathic bladder|inverted smile-neurogenic bladder syndrome|urofacial Ochoa's syndrome|Ochoa syndrome ICD10:N31.8|SCTID:236533008|MESH:C536480|OMIMPS:236730|GARD:0000104|Orphanet:2704|DOID:0050816 owl:Class MONDO:0100259 biolink:NamedThing peroxisome biogenesis disorder due to PEX1 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX1 defect|PEX1 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0003524 biolink:NamedThing gastric gastrin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. tmpak2llvmy_mondo_relaxed.owl gastric gastrin producing tumor|gastrin producing neuroendocrine tumor of the stomach|gastrin producing tumor of the stomach|gastric gastrinoma|gastric gastrin-producing neuroendocrine tumor|gastrin-producing neuroendocrine tumor of stomach|gastrin-producing neuroendocrine tumor of the stomach|stomach gastrin-producing neuroendocrine tumor|gastric G-cell gastrin producing tumor|gastric gastrin-producing NET UMLS:C1333767|DOID:5579|NCIT:C27444 owl:Class MONDO:0012592 biolink:NamedThing osteogenesis imperfecta type 11 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene. tmpak2llvmy_mondo_relaxed.owl OI11|OI type 11|FKBP10 osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in FKBP10|OI, type 11|osteogenesis imperfecta, type XI|osteogenesis imperfecta type XI|OI type XI|osteogenesis imperfecta, type 11 UMLS:C3151218|ICD10:Q78.0|DOID:0110351|GARD:0012875|OMIM:610968 owl:Class MONDO:0020460 biolink:NamedThing acquired von willebrand syndrome Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. tmpak2llvmy_mondo_relaxed.owl acquired von Willebrand disease|acquired von Willebrand disease (hereditary or acquired)|acquired von willebrand disease|AVWS|Willebrand disease, acquired GARD:0005573|DOID:0111146|MedDRA:10069495|GARD:5573|UMLS:C0272362|SCTID:234451005|ICD10:D68.4|PMID:28028990|Orphanet:99147|MEDDRA:10069495 https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome owl:Class UBERON:0010410 biolink:NamedThing inguinal fat pad encapsulated adipose tissue found in the groin tmpak2llvmy_mondo_relaxed.owl fat depot of inguinal region|inguinal fat depot owl:Class MONDO:0005893 biolink:NamedThing pancreatic endocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. tmpak2llvmy_mondo_relaxed.owl poorly differentiated pancreatic endocrine carcinoma|neuroendocrine carcinoma of pancreas|pancreatic NEC|carcinoma, islet cell, malignant|islet cell cancer|carcinoma of endocrine pancreas|pancreatic endocrine cancer|high grade pancreatic neuroendocrine carcinoma|pancreatic neuroendocrine carcinoma|islet cell carcinoma (morphologic abnormality)|poorly-differentiated pancreatic neuroendocrine neoplasm|islet cell carcinoma|malignant neoplasm of islets of Langerhans|poorly-differentiated pancreatic NEN|malignant pancreatic endocrine tumor|high-grade pancreatic neuroendocrine carcinoma|endocrine pancreas carcinoma|pancreatic NEC G3|poorly-differentiated NEN of pancreas|poorly-differentiated neuroendocrine neoplasm of pancreas|malignant islet cell tumor|pancreatic endocrine carcinoma|Pancreatic Neuroendocrine cancer ICD10:C25.4|MESH:D018273|EFO:0007416|DOID:1798|UMLS:C1328479|Orphanet:506098|NCIT:C3770|ICDO:8150/3|SCTID:254612002|ICD9:157.4 owl:Class GO:0055118 biolink:NamedThing negative regulation of cardiac muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045988 biolink:NamedThing negative regulation of striated muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. tmpak2llvmy_mondo_relaxed.owl down-regulation of striated muscle contraction|inhibition of striated muscle contraction|down regulation of striated muscle contraction|downregulation of striated muscle contraction owl:Class CL:0002112 biolink:NamedThing B220-positive CD38-negative unswitched memory B cell A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0011115 biolink:NamedThing spastic paraplegia and Evans syndrome tmpak2llvmy_mondo_relaxed.owl spastic paraplegia and Evans syndrome MESH:C566652|UMLS:C1866619|OMIM:601608 owl:Class UBERON:0007522 biolink:NamedThing striated muscle sphincter A ring of striated muscle cells whose contraction closes the opening of the ring. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017999 biolink:NamedThing fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. tmpak2llvmy_mondo_relaxed.owl FAHN Orphanet:329308|ICD10:G23.0|GARD:0010810 owl:Class MONDO:0021249 biolink:NamedThing lip neoplasm A neoplasm (disease) that involves the lip. tmpak2llvmy_mondo_relaxed.owl lip neoplasms|neoplasm of the Lip|tumor of Lip|lip tumor|tumor of lip|tumor of the Lip|neoplasm of Lip|neoplasm of lip|lip neoplasm (disease) SCTID:126770008|NCIT:C3191 owl:Class MONDO:0005621 biolink:NamedThing vascular brain injury Damage to the blood vessels of the brain tmpak2llvmy_mondo_relaxed.owl Vascular trauma, Brain|Brain Vascular trauma|Vascular injury, Brain|Brain injury, Vascular|Vascular Brain injury|injury, Vascular Brain|injury, Vascular, Brain|injury, Brain Vascular|trauma, cerebrovascular|Brain Vascular injury|Vascular Brain Injuries|trauma, Brain Vascular|Vascular Traumas, Brain EFO:0006791|MESH:D020214 owl:Class MONDO:0011719 biolink:NamedThing gastrointestinal stromal tumor Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. tmpak2llvmy_mondo_relaxed.owl gastrointestinal stromal tumor|gist|gastrointestinal stromal tumors|gastrointestinal stromal tumor (gist)|gant|stromal tumor of gastrointestinal tract|gastrointestinal stromal neoplasm|gastrointestinal stromal sarcoma MESH:D046152|OMIM:606764|ICD10:C26.9|MedDRA:10051066|NCIT:C3868|ONCOTREE:GIST|UMLS:C3179349|UMLS:C0238198|SCTID:420120006|ICDO:8936/1|DOID:9253|GARD:0008598|Orphanet:44890 owl:Class MONDO:0018506 biolink:NamedThing mesenchymal tumor of small intestine tmpak2llvmy_mondo_relaxed.owl mesenchymal tumor of small bowel Orphanet:423798|UMLS:CN237511 owl:Class HGNC:18187 biolink:NamedThing SIAE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009187 biolink:NamedThing celiac disease-epilepsy-cerebral calcification syndrome Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. tmpak2llvmy_mondo_relaxed.owl familial unilateral and bilateral occipital calcifications and epilepsy|epilepsy with bilateral occipital calcifications|celiac disease, epilepsy, and cerebral calcification syndrome|celiac disease epilepsy occipital calcifications|CEC|bilateral occipital calcifications with epilepsy|epilepsy occipital calcifications UMLS:C1856930|GARD:0002166|OMIM:226810|MESH:C535496|Orphanet:1459 owl:Class NCBITaxon:29547 biolink:NamedThing Epsilonproteobacteria tmpak2llvmy_mondo_relaxed.owl e-proteobacteria|epsilon proteobacteria|Campylobacterota|epsilon subdivision|Purple bacteria, epsilon subdivision|Proteobacteria epsilon subdivision|epsilon subgroup|Epsilonbacteraeota PMID:16403855|GC_ID:11|PMID:28484436|PMID:11837318|PMID:29720974 ncbi_taxonomy owl:Class MONDO:0006984 biolink:NamedThing subdural empyema An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. tmpak2llvmy_mondo_relaxed.owl subdural abscess DOID:11389|SCTID:37660004|MESH:D013354|UMLS:C0038539|MedDRA:10042360|EFO:1001196 owl:Class MONDO:0017323 biolink:NamedThing hypocalcemic rickets Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). tmpak2llvmy_mondo_relaxed.owl calcium deficiency rickets|Calciopenic rickets UMLS:C4302195|UMLS:C4329608|NCIT:C131421|Orphanet:289103|SCTID:722947004 owl:Class MONDO:0017322 biolink:NamedThing disorders of vitamin D metabolism tmpak2llvmy_mondo_relaxed.owl Orphanet:289098|UMLS:CN202954 owl:Class MONDO:0007994 biolink:NamedThing micromelic bone dysplasia with cloverleaf skull tmpak2llvmy_mondo_relaxed.owl micromelic bone dysplasia with cloverleaf skull OMIM:156830|MESH:C536429 owl:Class MONDO:0020123 biolink:NamedThing metabolic myopathy A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. tmpak2llvmy_mondo_relaxed.owl NCIT:C98985|UMLS:C0270984|MedDRA:10068836|Orphanet:98486|SCTID:26111005|ICD9:359.89 owl:Class GO:0060453 biolink:NamedThing regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016170 biolink:NamedThing chronic polyradiculoneuropathy Chronic form of polyradiculoneuropathy. tmpak2llvmy_mondo_relaxed.owl polyradiculoneuropathy, chronic ICD10:G61.8|Orphanet:208978 owl:Class NCBITaxon:813 biolink:NamedThing Chlamydia trachomatis tmpak2llvmy_mondo_relaxed.owl Rickettsia trachomatis|Chlamydozoon trachomatis|Rickettsia trachomae PMID:10192388|PMID:8347519|PMID:8102247|PMID:10319462|GC_ID:11 ncbi_taxonomy owl:Class CL:0000458 biolink:NamedThing serotonin secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). tmpak2llvmy_mondo_relaxed.owl 5-Hydroxytryptamine secreting cell|5-HT secreting cell cell owl:Class GO:1903725 biolink:NamedThing regulation of phospholipid metabolic process Any process that modulates the frequency, rate or extent of phospholipid metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of phospholipid metabolism owl:Class UBERON:0010059 biolink:NamedThing hypoglossal cord tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:27933 biolink:NamedThing beta-lactam antibiotic An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. tmpak2llvmy_mondo_relaxed.owl beta-Lactam antibiotics|beta-lactam antibiotics owl:Class CHEBI:35627 biolink:NamedThing beta-lactam A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. tmpak2llvmy_mondo_relaxed.owl beta-Lactam|beta-lactams|a beta-lactam owl:Class MONDO:0008783 biolink:NamedThing Tangier disease Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. tmpak2llvmy_mondo_relaxed.owl Analphalipoproteinemia|ATP-binding cassette transporter A1 deficiency|familial Hypoalphalipo-proteinemia|familial high density lipoprotein deficiency|A-alphalipoprotein neuropathy|high density lipoprotein deficiency, Tangier type|familial high density lipoprotein deficiency disease|HDL lipoprotein deficiency disease|defective adenosine triphosphate-binding cassette transporter A1|Analphalipo-proteinemia|familial alpha-lipoprotein deficiency|cholesterol thesaurismosis|tgd|HDLDT1|Alpha high density lipoprotein deficiency disease|high density lipoprotein deficiency, type 1|Tangier disease Orphanet:31150|GARD:0007731|NCIT:C85182|DOID:1388|UMLS:C0039292|SCTID:723579009|MESH:D013631|OMIM:205400|MedDRA:10051875|ICD10:E78.6 owl:Class UBERON:0006525 biolink:NamedThing left lung alveolar system tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000847 biolink:NamedThing ciliated olfactory receptor neuron An olfactory receptor cell in which the apical ending of the dendrite is a pronounced ciliated olfactory knob. tmpak2llvmy_mondo_relaxed.owl ciliated sensory neuron|ciliated olfactory sensory neuron cell owl:Class CL:0000064 biolink:NamedThing ciliated cell A cell that has a filiform extrusion of the cell surface. tmpak2llvmy_mondo_relaxed.owl XAO:0000031|VHOG:0001532 cell owl:Class HP:0003508 biolink:NamedThing Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. tmpak2llvmy_mondo_relaxed.owl Proportionate small stature|Short stature, proportionate UMLS:C0878660 HP:0003499 human_phenotype owl:Class HP:0004322 biolink:NamedThing Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). tmpak2llvmy_mondo_relaxed.owl Short stature|Decreased body height|Height less than 3rd percentile|Stature below 3rd percentile|Small stature UMLS:C0349588|SNOMEDCT_US:237836003 peter 2008-02-27T03:19:00Z HP:0003519|HP:0003507|HP:0008888|HP:0008913|HP:0008871|HP:0003501|HP:0003512|HP:0001509|HP:0003518|HP:0008882 human_phenotype owl:Class MONDO:0018888 biolink:NamedThing congenital cornea plana tmpak2llvmy_mondo_relaxed.owl Orphanet:53691|ICD10:Q13.4 owl:Class MONDO:0017074 biolink:NamedThing cervicothoracic spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268766 owl:Class MONDO:0019773 biolink:NamedThing myelomeningocele Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. tmpak2llvmy_mondo_relaxed.owl meningomyelocele ICD10:Q05.5|ICD10:Q05.3|GARD:0003475|Orphanet:93969|ICD10:Q05.9|ICD10:Q05.7|ICD10:Q05|ICD10:Q05.8|EFO:1001369|MESH:D008591|ICD10:Q05.1|HP:0002475|SCTID:414667000|ICD10:Q05.2|DOID:0060326|ICD10:Q05.4|ICD10:Q05.0|ICD10:Q05.6 https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele owl:Class CHEBI:24995 biolink:NamedThing lactam Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpak2llvmy_mondo_relaxed.owl lactam|lactams|Laktame|Laktam owl:Class GO:0000313 biolink:NamedThing organellar ribosome A ribosome contained within a subcellular membrane-bounded organelle. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005840 biolink:NamedThing ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. tmpak2llvmy_mondo_relaxed.owl membrane bound ribosome|free ribosome|ribosomal RNA owl:Class MONDO:0006900 biolink:NamedThing perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. tmpak2llvmy_mondo_relaxed.owl inflammation of perirenal fat|perirenal fat inflammation MESH:D010501|SCTID:111404004|MedDRA:10072058|UMLS:C0031065|EFO:1001099|DOID:2982 owl:Class MONDO:0024969 biolink:NamedThing parasitic disease, non-human animal Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. tmpak2llvmy_mondo_relaxed.owl diseases, animal parasitic|parasitic disease, animal|disease, animal parasitic|animal parasitic disease|animal parasitic diseases UMLS:C0030500|MESH:D010273 owl:Class MONDO:0007784 biolink:NamedThing selective pituitary resistance to thyroid hormone Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. tmpak2llvmy_mondo_relaxed.owl hyperthyroidism, familial, due to inappropriate thyrotropin secretion|PRTH|thyroid hormone resistance, selective pituitary|pituitary resistance to thyroid hormone MESH:C564154|ICD10:E05.8|UMLS:C1840364|DOID:0111374|Orphanet:165994|OMIM:145650 owl:Class MONDO:0008375 biolink:NamedThing retinal detachment An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. tmpak2llvmy_mondo_relaxed.owl detached retina|retinal detachment|retina, detached SCTID:42059000|EFO:0005773|SCTID_2010_1_31:155103005|ICD9:361.9|ICD10:H33.2|SCTID_2010_1_31:42059000|ICD9:361.89|ICD9:362.40|UMLS:C0035305|NCIT:C26874|MESH:D012163|DOID:5327|SCTID_2010_1_31:193347002|OMIM:180050 owl:Class MONDO:0016871 biolink:NamedThing partial deletion of chromosome 6 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 6|partial deletion of chromosome type 6 ICD10:Q93.5|Orphanet:261791 owl:Class GO:0016454 biolink:NamedThing C-palmitoyltransferase activity Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060774 biolink:NamedThing vaginal fibroepithelial polyp A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl fibroepithelial polyp of the vagina|vaginal fibroepithelial stromal polyp|vaginal fibroepithelial polyp|fibroepithelial polyp of vagina NCIT:C4948|UMLS:C0750071 owl:Class MONDO:0020563 biolink:NamedThing Dedifferentiated liposarcoma Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. tmpak2llvmy_mondo_relaxed.owl DDLS|Dedifferentiated liposarcoma NCIT:C3704|DOID:0080531|ICDO:8858/3|EFO:0003085|ICD10:C49.9|SCTID:404072004|ONCOTREE:DDLS|ICD9:171.9|UMLS:C0205824|Orphanet:99970 owl:Class CL:1000312 biolink:NamedThing bronchial goblet cell A goblet cell that is part of the epithelium of bronchus. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of bronchus FMA:263032 cell owl:Class UBERON:0003850 biolink:NamedThing telencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a telencephalon. tmpak2llvmy_mondo_relaxed.owl neural crest telencephalon owl:Class MONDO:0013526 biolink:NamedThing progressive myoclonic epilepsy type 6 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene. tmpak2llvmy_mondo_relaxed.owl progressive myoclonus epilepsy type 6|North Sea progressive myoclonus epilepsy|PME type 6|progressive myoclonic epilepsy caused by mutation in GOSR2|EPM6|epilepsy, progressive myoclonic, type 6|epilepsy, progressive myoclonic, 6|GOSR2 progressive myoclonic epilepsy|GOSR2-related progressive myoclonus ataxia OMIM:614018|GARD:0003872|DOID:0111449|UMLS:C3279627|Orphanet:280620|ICD10:G40.3 owl:Class MONDO:0021329 biolink:NamedThing carcinoma of soft palate A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl carcinoma of the soft palate|carcinoma of soft palate|soft palate cancer|soft palate carcinoma UMLS:C0345555|SCTID:254435009|NCIT:C8395 owl:Class MONDO:0006788 biolink:NamedThing hydrophthalmos Abnormal enlargement of the eye tmpak2llvmy_mondo_relaxed.owl DOID:11212|ICD9:743.2|EFO:1000968|ICD9:743.20|ICD10:Q15.0|MESH:D006871 owl:Class MONDO:0000365 biolink:NamedThing primary congenital glaucoma Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs. tmpak2llvmy_mondo_relaxed.owl primary congenital glaucoma (disease)|primary congenital glaucoma primary congenital glaucoma (disease) SCTID:415176004|DOID:0050593|NCIT:C150251|UMLS:C3888011|HP:0008007|UMLS:C1533041 owl:Class MONDO:0009161 biolink:NamedThing Ehlers-Danlos syndrome, dermatosparaxis type A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. tmpak2llvmy_mondo_relaxed.owl dEDS|EDSDERMS|EDS VIIC|dermatosparaxis|Ehlers-Danlos syndrome, dermatosparaxis type|Ehlers-Danlos syndrome type 7C|Ehlers-Danlos syndrome, type VII, autosomal recessive|dermatosparaxis Ehlers-Danlos syndrome|EDS 7C|Ehlers-Danlos syndrome type 7C (formerly)|dermatosparaxis EDS|EDS7C MESH:C567527|SCTID:55711009|Orphanet:1901|OMIM:225410|GARD:0002089|ICD10:Q79.6 owl:Class MONDO:0023521 biolink:NamedThing Judge Misch wright syndrome tmpak2llvmy_mondo_relaxed.owl dry skin, photophobia hyperkeratosis, abnormal fingernails|keratodermia palmoplantar periorificial|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia MESH:C537692|UMLS:C2931590|GARD:0003061 https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome owl:Class MONDO:0014271 biolink:NamedThing STT3B-CDG STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation, type IX|CDG syndrome type IX|CDG1X|carbohydrate deficient glycoprotein syndrome type IX|congenital disorder of glycosylation type 1x|congenital disorder of glycosylation type IX|CDG IX|CDG-Ix ICD10:E77.8|UMLS:C2931007|OMIM:615597|Orphanet:370924|SCTID:733112007|DOID:0080573|MESH:C535751 owl:Class UBERON:0012177 biolink:NamedThing skin apocrine gland An apocrine gland that is part of a skin of body. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008974 biolink:NamedThing apocrine gland any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk. tmpak2llvmy_mondo_relaxed.owl true apocrine gland owl:Class MONDO:0011255 biolink:NamedThing mandibulofacial dysostosis-macroblepharon-macrostomia syndrome tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis with macroblepharon and macrostomia|macroblepharon-ectropion-hypertelorism-macrostomia syndrome|Verloes-Lesenfants syndrome|macroblepharon, ectropion, hypertelorism, and macrostomia Orphanet:357158|ICD10:Q87.0|OMIM:602562|UMLS:C1865181|MESH:C566520 owl:Class HGNC:20582 biolink:NamedThing CYP2U1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018974 biolink:NamedThing paraneoplastic pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. tmpak2llvmy_mondo_relaxed.owl ICD10:L10.8|EFO:0008602|ICD10:L10.81|UMLS:C1112570|Orphanet:63455|MedDRA:10057056 owl:Class HGNC:5985 biolink:NamedThing IL17RA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008022 biolink:NamedThing muscle cramps, familial tmpak2llvmy_mondo_relaxed.owl muscle cramps, familial MESH:C563563|OMIM:158400|UMLS:C1834708 owl:Class MONDO:0020693 biolink:NamedThing glycogen storage disease due to liver phosphorylase kinase deficiency A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. tmpak2llvmy_mondo_relaxed.owl Orphanet:264580|ICD10:E74.0 owl:Class GO:0006351 biolink:NamedThing transcription, DNA-templated The cellular synthesis of RNA on a template of DNA. tmpak2llvmy_mondo_relaxed.owl transcription, DNA-dependent|transcription|cellular transcription, DNA-dependent|cellular transcription|transcription regulator activity|DNA-dependent transcription owl:Class HP:0012864 biolink:NamedThing Abnormal sperm morphology A structural anomaly of sperm. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of sperm|Teratospermia|Teratozoospermia SNOMEDCT_US:236817003|MSH:D000072660|UMLS:C0403824 hecht 2014-06-09T10:07:03Z human_phenotype owl:Class HP:0012863 biolink:NamedThing Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022703 hecht 2014-06-09T10:05:33Z human_phenotype owl:Class HP:0000364 biolink:NamedThing Hearing abnormality An abnormality of the sensory perception of sound. tmpak2llvmy_mondo_relaxed.owl Hearing abnormality|Abnormal hearing UMLS:C4025860 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. human_phenotype owl:Class HP:0031704 biolink:NamedThing Abnormal ear physiology Any functional anomaly of the ear. tmpak2llvmy_mondo_relaxed.owl 2017-12-18 00:20:24+00:00 peter human_phenotype owl:Class HP:0001965 biolink:NamedThing Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. tmpak2llvmy_mondo_relaxed.owl Anomaly of scalp|Abnormality of the scalp UMLS:C4025734 The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. human_phenotype owl:Class HP:0000234 biolink:NamedThing Abnormality of the head An abnormality of the head. tmpak2llvmy_mondo_relaxed.owl Abnormality of the head|Head abnormality|Abnormal head UMLS:C4021812 human_phenotype owl:Class MONDO:0021321 biolink:NamedThing malignant tumor of extrahepatic bile duct A cancer that involves the extrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl cancer of extrahepatic bile duct|extrahepatic bile duct cancer|malignant tumor of the extrahepatic bile duct|malignant extrahepatic bile duct tumor|malignant extrahepatic bile duct neoplasm|malignant neoplasm of extrahepatic bile duct|malignant neoplasm of the extrahepatic bile duct UMLS:C0153453|ICD9:156.1|SCTID:363416002|ICD9:156.8|NCIT:C7483 owl:Class UBERON:0006932 biolink:NamedThing vestibular epithelium An epithelium that is part of a vestibular labyrinth. tmpak2llvmy_mondo_relaxed.owl inner ear vestibular component epithelium|epithelium of vestibular labyrinth|vestibular sensory epithelium owl:Class MONDO:0023370 biolink:NamedThing neoplastic disease or syndrome Either an isolated neoplasm or a syndrome with neoplasm as a major feature. tmpak2llvmy_mondo_relaxed.owl neoplastic disorder|neoplastic disease owl:Class MONDO:0009444 biolink:NamedThing ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl Jagell-Holmgren-Hofer syndrome|ichthyosis alopecia eclabion ectropion mental retardation|Jagell Holmgren Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|ichthyosis with alopecia, eclabium, ectropion, and mental retardation|ichthyosis alopecia eclabion ectropion intellectual disability UMLS:C1855788|OMIM:242510|Orphanet:2269|GARD:0000292|MESH:C537364 owl:Class MONDO:0005050 biolink:NamedThing invasive ductal and lobular carcinoma An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. tmpak2llvmy_mondo_relaxed.owl invasive duct and lobular carcinoma|infiltrating ductal and lobular carcinoma|invasive ductal and lobular carcinoma EFO:0000552|ICDO:8522/3|UMLS:C1334277|NCIT:C7688 owl:Class GO:0007006 biolink:NamedThing mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. tmpak2llvmy_mondo_relaxed.owl mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis owl:Class HP:0002113 biolink:NamedThing Pulmonary infiltrates tmpak2llvmy_mondo_relaxed.owl Pulmonic infiltration|Lung infiltrates UMLS:C0235896 human_phenotype owl:Class HP:0031983 biolink:NamedThing Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. tmpak2llvmy_mondo_relaxed.owl Abnormal chest radiograph finding (lung) 2018-07-08 13:38:01+00:00 peter human_phenotype owl:Class MONDO:0012631 biolink:NamedThing Alzheimer disease 14 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease 14|AD14|Alzheimer's disease type 14|Alzheimer's disease 14 ICD10:G30|MESH:C566999|DOID:0110047|UMLS:C1970144|OMIM:611154 owl:Class MONDO:0002765 biolink:NamedThing plantar verrucous skin carcinoma A verrucous carcinoma that involves the plantar part of pes. tmpak2llvmy_mondo_relaxed.owl plantar verrucous skin carcinoma|plantar part of pes verrucous carcinoma|plantar verrucous carcinoma of the skin|plantar verrucous carcinoma of skin UMLS:C1335424|NCIT:C6811|DOID:3751 owl:Class UBERON:0004936 biolink:NamedThing submucosa of pyloric antrum A submucosa that is part of a pyloric antrum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl antrum of stomach submucosa|submucosa of stomach pyloric antrum|pyloric antrum submucosa|submucosa of antrum of stomach|stomach pyloric antrum submucosa owl:Class NCBITaxon:38323 biolink:NamedThing Bartonella henselae tmpak2llvmy_mondo_relaxed.owl Rochalimaea henselae PMID:1371515|GC_ID:11|PMID:8240958 NCBITaxon:806 ncbi_taxonomy owl:Class UBERON:0003856 biolink:NamedThing uncondensed odontogenic mesenchyme Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. tmpak2llvmy_mondo_relaxed.owl enamel organ mesenchyme|dental mesenchyme|tooth enamel organ mesenchyme|dental organ mesenchyme|tooth mesenchyme owl:Class MONDO:0020770 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 tmpak2llvmy_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3|SCAN3 OMIM:618387 owl:Class MONDO:0002970 biolink:NamedThing ciliary body disease A disease involving the ciliary body. tmpak2llvmy_mondo_relaxed.owl ciliary body disease|ciliary body disease or disorder|disease or disorder of ciliary body|ciliary body disorder|disease of ciliary body|disorder of ciliary body UMLS:C0271100|SCTID:68575007|DOID:4353|NCIT:C35775 owl:Class HGNC:14154 biolink:NamedThing LMF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0020550 biolink:NamedThing auricular blood vessel A blood vessel that supplies or drains an ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005836 biolink:NamedThing male reproductive organ cancer A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of male genital organ, site unspecified|malignant neoplasm of male genital organs|male genital cancer|male genital neoplasm|male reproductive system neoplasm|malignant tumor of male genital organ|malignant tumor of the Male reproductive system|malignant neoplasm of male genital organ or tract|malignant Male reproductive system neoplasm|cancer of male reproductive organ|malignant neoplasm of Male reproductive system|malignant male reproductive organ neoplasm|malignant tumor of Male reproductive system|male reproductive organ cancer|tumor of male reproductive system|neoplasm of male genital organ|malignant tumor of male reproductive system|malignant neoplasm of male genital organ|malignant Male reproductive system tumor|malignant neoplasm of the Male reproductive system|malignant neoplasm of male reproductive organ ICD10:C63.9|DOID:3856|NCIT:C8561|ICD9:187.8|EFO:0007355|ICD9:187.9|MESH:D005834|ICD10:C60-C63|SCTID:363515000 owl:Class PATO:0001579 biolink:NamedThing contractility A physical quality that is the ability to contract or shrink. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044702 biolink:NamedThing X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl deafness, X-linked 7|DFNX7 Orphanet:500188|OMIM:301018|DOID:0111738 owl:Class MONDO:0001591 biolink:NamedThing senile entropion tmpak2llvmy_mondo_relaxed.owl involutional entropion SCTID:55408009|ICD9:374.01|UMLS:C0155188|DOID:12836 owl:Class MONDO:0001519 biolink:NamedThing entropion The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl entropion|entropion (disease) entropion (disease) MESH:D004774|ICD9:374.00|DOID:12397|SCTID:33168009|UMLS:C0014390|HP:0000621 owl:Class MONDO:0054677 biolink:NamedThing combined oxidative phosphorylation deficiency 33 tmpak2llvmy_mondo_relaxed.owl COXPD33|combined oxidative phosphorylation deficiency 33 UMLS:C4540209|DOID:0111495|OMIM:617713|EFO:0009159 owl:Class MONDO:0013211 biolink:NamedThing dilated cardiomyopathy 1FF A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1Ff|cardiomyopathy, dilated, 1FF|dilated cardiomyopathy type 1FF|CMD1FF DOID:0110459|ICD10:I42.0|OMIM:613286|UMLS:C2750091|MESH:C567654 owl:Class NCBITaxon:297308 biolink:NamedThing Ixodoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1900118 biolink:NamedThing negative regulation of execution phase of apoptosis Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. tmpak2llvmy_mondo_relaxed.owl downregulation of execution phase of apoptosis|down-regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down regulation of execution phase of apoptosis owl:Class GO:0022404 biolink:NamedThing molting cycle process A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008489 biolink:NamedThing sternum, premature obliteration of sutures of tmpak2llvmy_mondo_relaxed.owl sternum, premature obliteration of sutures of OMIM:184800 owl:Class MONDO:0002594 biolink:NamedThing monkeypox An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. tmpak2llvmy_mondo_relaxed.owl infections, Monkeypox virus|Monkeypox virus infection ICD10:B04|ICD9:136.8|UMLS:C0276180|MESH:D045908|NCIT:C128421|SCTID:359814004|DOID:3292|GARD:0010722|ICD9:059.01 https://rarediseases.info.nih.gov/diseases/10722/monkeypox owl:Class GO:0002440 biolink:NamedThing production of molecular mediator of immune response The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl production of cellular mediator of immune response owl:Class CHEBI:33695 biolink:NamedThing information biomacromolecule tmpak2llvmy_mondo_relaxed.owl genetically encoded biomacromolecules|information biomacromolecules|information macromolecules|information macromolecule|information biopolymers|genetically encoded biopolymers owl:Class MONDO:0016154 biolink:NamedThing qualitative or quantitative defects of myotubularin tmpak2llvmy_mondo_relaxed.owl Orphanet:207110 owl:Class MONDO:0016054 biolink:NamedThing cerebral malformation tmpak2llvmy_mondo_relaxed.owl brain malformation Orphanet:199633 owl:Class HGNC:497 biolink:NamedThing TRPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018790 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy tmpak2llvmy_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy 2022-03-01 UMLS:CN776855|Orphanet:477765 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO_0018788 owl:Class MONDO:0004620 biolink:NamedThing Hodgkin's lymphoma, lymphocytic depletion A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl lymphocyte-depleted classical Hodgkin lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|adult LDHD|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites|adult lymphocyte-depleted classical Hodgkin lymphoma|adult lymphocyte depletion Hodgkin's disease|Hodgkin's lymphocytic depletion of unspecified site|classic Hodgkin lymphoma, lymphocyte-depleted type|adult lymphocyte depleted Hodgkin's lymphoma|Hodgkin's disease, lymphocytic depletion|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin lymphoma|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Adult lymphocyte-depleted Classic Hodgkin lymphoma|adult HDLD NCIT:C9125|Orphanet:98846|DOID:8628|ONCOTREE:LDCHL|ICD10:C81.3|ICD9:201.7|SCTID:118610003 owl:Class HGNC:7579 biolink:NamedThing MYH9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019475 biolink:NamedThing subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. tmpak2llvmy_mondo_relaxed.owl subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL|subcutaneous panniculitis-like T-cell lymphoma ICDO:9708/3|ICD9:202.70|NCIT:C6918|UMLS:C0522624|GARD:0010193|ONCOTREE:SPTCL|ICD10:C83.6|ICD10:C86.3|SCTID:404133000|OMIM:618398|MESH:C537503|Orphanet:86884|EFO:1000552 owl:Class MONDO:0016172 biolink:NamedThing acquired sensory ganglionopathy An instance of sensory ganglionopathy that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired sensory neuronopathy|acquired sensory ganglionopathy Orphanet:208984 owl:Class MONDO:0009620 biolink:NamedThing Say-Barber-Miller syndrome Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. tmpak2llvmy_mondo_relaxed.owl microcephaly hypogammaglobulinemia abnormal immunity|Say Barber Miller syndrome|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome MESH:C536618|Orphanet:3132|GARD:0000239|SCTID:721903007|OMIM:251240|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome owl:Class CL:0002012 biolink:NamedThing Kit-low proerythroblast A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T10:31:56Z cell owl:Class MONDO:0007709 biolink:NamedThing hematuria, benign familial tmpak2llvmy_mondo_relaxed.owl BFH|thin-basement-membrane nephropathy|thin membrane nephropathy|hematuria, benign familial MESH:C562476|DOID:0111365|OMIM:141200 owl:Class CHEBI:27024 biolink:NamedThing toluenes Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002275 biolink:NamedThing myeloid cell activation involved in immune response A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl myeloid cell activation during immune response owl:Class MONDO:0005965 biolink:NamedThing spinal stenosis Narrowing of the spinal canal. tmpak2llvmy_mondo_relaxed.owl spinal stenosis of lumbar region|lumbar spinal stenosis|cervical spinal stenosis ICD10:M48.00|EFO:0007490|SCTID:76107001|ICD9:724.09|ICD10:M48.06|HP:0003416|ICD9:724.00|DOID:6725|ICD10:M48.02|MESH:D013130|ICD9:723.0|ICD10:M48.0 owl:Class MONDO:0014256 biolink:NamedThing retinitis pigmentosa 67 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 67|NEK2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in NEK2|retinitis pigmentosa 67|RP67 ICD10:H35.5|OMIM:615565|DOID:0110359|UMLS:C3809954 owl:Class MONDO:0032896 biolink:NamedThing spermatogenic failure 42 tmpak2llvmy_mondo_relaxed.owl SPGF42|SPERMATOGENIC FAILURE 42 OMIM:618745 owl:Class HGNC:37212 biolink:NamedThing KLLN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014338 biolink:NamedThing IL21-related infantile inflammatory bowel disease tmpak2llvmy_mondo_relaxed.owl IL21 deficiency|IL21-related infantile IBD|immunodeficiency, common variable, type 11|immunodeficiency, common variable, 11|CVID11 OMIM:615767|UMLS:C4014258|Orphanet:477661 owl:Class MONDO:0022071 biolink:NamedThing carbon baby syndrome Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. tmpak2llvmy_mondo_relaxed.owl universal acquired melanosis GARD:0001089|UMLS:C0406419|SCTID:238700008 https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome owl:Class MONDO:0022220 biolink:NamedThing Parinaud syndrome A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. tmpak2llvmy_mondo_relaxed.owl dorsal midbrain syndrome|syndrome, Parinaud's|Parinaud's syndrome|vertical gaze palsy - Parinaud|Parinaud syndrome|syndrome, Parinaud|Parinauds syndrome|paralysis of vertical movement|Parinaud's ophthalmoplegia NCIT:C54102|MEDGEN:57754|SCTID:37991008|UMLS:C0152222 owl:Class CHEBI:36914 biolink:NamedThing inorganic ion tmpak2llvmy_mondo_relaxed.owl inorganic ions owl:Class MONDO:0018631 biolink:NamedThing Marie Unna hereditary hypotrichosis Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. tmpak2llvmy_mondo_relaxed.owl MUHH|Marie Unna congenital hypotrichosis|hypotrichosis, Marie Unna type MESH:C535912|Orphanet:444|ICD10:Q84.0|UMLS:C2931059|GARD:0003390 owl:Class HP:0001369 biolink:NamedThing Arthritis Inflammation of a joint. tmpak2llvmy_mondo_relaxed.owl Arthritis|Joint inflammation SNOMEDCT_US:3723001|UMLS:C0003864|MSH:D001168 human_phenotype owl:Class MONDO:0013374 biolink:NamedThing supernumerary der(22)t(8;22) syndrome tmpak2llvmy_mondo_relaxed.owl supernumerary der(22)t(8;22) syndrome UMLS:C3150966|OMIM:613700 owl:Class GO:0006601 biolink:NamedThing creatine biosynthetic process The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. tmpak2llvmy_mondo_relaxed.owl creatine formation|creatine anabolism|creatine synthesis|creatine biosynthesis owl:Class MONDO:0001943 biolink:NamedThing Plasmodium malariae malaria Malaria resulting from infection by Plasmodium malariae. tmpak2llvmy_mondo_relaxed.owl quartan malaria|malaria by Plasmodium malariae SCTID:27618009|NCIT:C34799|ICD10:B52|UMLS:C0024536|ICD10:B52.9|DOID:14324|ICD9:084.2 owl:Class GO:0050433 biolink:NamedThing regulation of catecholamine secretion Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035554 biolink:NamedThing right cardiac chamber Any chamber of the right side of the heart tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004048 biolink:NamedThing immature gastric teratoma A malignant teratoma that arises from the stomach. tmpak2llvmy_mondo_relaxed.owl stomach malignant teratoma|malignant teratoma of the stomach|immature gastric teratoma|malignant teratoma of stomach|malignant gastric teratoma DOID:6948|NCIT:C5256|UMLS:C1334151 owl:Class HGNC:4122 biolink:NamedThing GALNS tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:4551 biolink:NamedThing digoxin A cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small. tmpak2llvmy_mondo_relaxed.owl digoxin|12beta-hydroxydigitoxin|(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide owl:Class MONDO:0019655 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis tmpak2llvmy_mondo_relaxed.owl sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis ICD10:N04.1|Orphanet:93218|UMLS:CN206528 owl:Class MONDO:0019401 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. tmpak2llvmy_mondo_relaxed.owl sporadic idiopathic nephrosis UMLS:C4274017|ICD10:N04.3|SCTID:717191005|ICD10:N04.8|Orphanet:84271|ICD10:N04.1 owl:Class MONDO:0004257 biolink:NamedThing childhood central nervous system mixed germ cell tumor A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood mixed germ cell tumor of central nervous system|Central nervous system Mixed germ cell tumor|pediatric mixed germ cell tumor of central nervous system|mixed germ cell tumor of central nervous system of childhood DOID:7516|NCIT:C27403|UMLS:C1332956 owl:Class MONDO:0020450 biolink:NamedThing azygos continuation of the inferior vena cava tmpak2llvmy_mondo_relaxed.owl azygos continuation of the IVC|azygos continuation of the inferior caval vein ICD10:Q26.8|Orphanet:99121 owl:Class MONDO:0060715 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 3 tmpak2llvmy_mondo_relaxed.owl tumoral calcinosis, hyperphosphatemic, familial, 3|HFTC3 OMIM:617994 owl:Class GO:0051495 biolink:NamedThing positive regulation of cytoskeleton organization Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpak2llvmy_mondo_relaxed.owl up-regulation of cytoskeleton organization|up regulation of cytoskeleton organization|positive regulation of cytoskeleton organization and biogenesis|activation of cytoskeleton organization|stimulation of cytoskeleton organization|positive regulation of cytoskeleton organisation|upregulation of cytoskeleton organization owl:Class GO:0046950 biolink:NamedThing cellular ketone body metabolic process The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. tmpak2llvmy_mondo_relaxed.owl cellular ketone body metabolism owl:Class MONDO:0009323 biolink:NamedThing Halothane hepatitis tmpak2llvmy_mondo_relaxed.owl Halothane hepatitis MESH:C562477|UMLS:C0241913|SCTID:235873001|OMIM:234350 owl:Class ENVO:01000355 biolink:NamedThing vegetation layer A layer which is determined by a form of vegetation. tmpak2llvmy_mondo_relaxed.owl forest layer|woodland layer|forest stratum|woodland stratum owl:Class GO:0017157 biolink:NamedThing regulation of exocytosis Any process that modulates the frequency, rate or extent of exocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023161 biolink:NamedThing viral myocarditis Myocarditis that is caused by an infection with a viral agent. tmpak2llvmy_mondo_relaxed.owl Viral myocarditis|viral myocarditis|Viral Myocarditis NCIT:C128381|UMLS:C0276138|SCTID:89141000 owl:Class HGNC:12668 biolink:NamedThing VCY tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903336 biolink:NamedThing negative regulation of vacuolar transport Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. tmpak2llvmy_mondo_relaxed.owl downregulation of vacuolar transport|down regulation of vacuolar transport|inhibition of vacuolar transport|down-regulation of vacuolar transport owl:Class ECTO:0000487 biolink:NamedThing exposure to chemical with chemical role An exposure to chemical role. tmpak2llvmy_mondo_relaxed.owl exposure to chemical role owl:Class MONDO:0003734 biolink:NamedThing adult central nervous system immature teratoma tmpak2llvmy_mondo_relaxed.owl adult central nervous system immature teratoma NCIT:C27401|UMLS:C1332193|DOID:6018 owl:Class HsapDv:0000138 biolink:NamedThing 44-year-old human stage Adult stage that refers to an adult who is over 44 and under 45. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001568 biolink:NamedThing pulmonary artery endothelial cell tmpak2llvmy_mondo_relaxed.owl PAEC cell BTO:0001141 cl owl:Class CL:1000413 biolink:NamedThing endothelial cell of artery A blood vessel endothelial cell that is part of an arterial endothelium. tmpak2llvmy_mondo_relaxed.owl arterial endothelial cell BTO:0004758|FMA:67761|KUPO:0001095 CL:0002542 cell owl:Class MONDO:0002794 biolink:NamedThing adult medulloblastoma A medulloblastoma arising from the brain, occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult brain medulloblastoma|medulloblastoma|medulloblastoma of adults UMLS:C0278876|UMLS:C1332188|DOID:3864|NCIT:C4011 owl:Class MONDO:0003691 biolink:NamedThing childhood malignant mesenchymoma A malignant mesenchymoma occurring in children. tmpak2llvmy_mondo_relaxed.owl malignant mesenchymoma|childhood malignant mesenchymoma|pediatric malignant mesenchymoma|malignant mesenchymoma of childhood DOID:5893|UMLS:C0279991|NCIT:C8097 owl:Class MONDO:0009773 biolink:NamedThing odonto-onycho-dermal dysplasia A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia|OODD|odontoonychodermal dysplasia UMLS:C0796093|MESH:C537742|OMIM:257980|ICD10:Q82.4|Orphanet:2721|SCTID:403762003|GARD:0004054 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class HP:0032894 biolink:NamedThing Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. tmpak2llvmy_mondo_relaxed.owl Fever induced seizure Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. peter human_phenotype owl:Class HP:0032892 biolink:NamedThing Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. tmpak2llvmy_mondo_relaxed.owl This includes seizures in the context of febrile or afebrile infection. peter human_phenotype owl:Class UBERON:0012240 biolink:NamedThing urethral meatus external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia[MP]. tmpak2llvmy_mondo_relaxed.owl external urethral orifice|orificium urethræ externum|orificium urethrae externum|urinary meatus|external urethral ostium|external urinary meatus|external meatus of urethra|urethral meatus|meatus urinarius owl:Class MONDO:0000495 biolink:NamedThing oppositional defiant disorder A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. tmpak2llvmy_mondo_relaxed.owl oppositional defiant disorder|oppositional defiant disorder (disease) oppositional defiant disorder (disease) SCTID:18941000|MESH:D019958|NCIT:C92565|HP:0010865|DOID:0050856|ICD9:313.81 owl:Class MONDO:0000592 biolink:NamedThing specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. tmpak2llvmy_mondo_relaxed.owl specific developmental disorder|specific delays in development SCTID:10720004|DOID:0060038|ICD9:315.8 owl:Class NCBITaxon:1496 biolink:NamedThing Clostridioides difficile tmpak2llvmy_mondo_relaxed.owl Bacillus difficilis|Clostridium difficle|Peptoclostridium difficile|Clostridium difficile PMID:27370902|GC_ID:11|PMID:23834245|PMID:27902176 NCBITaxon:1581190|NCBITaxon:1440055 ncbi_taxonomy owl:Class MONDO:0004625 biolink:NamedThing phlebitis Inflammation of a vein. tmpak2llvmy_mondo_relaxed.owl vein inflammation|inflammation of vein SCTID:61599003|DOID:864|EFO:1001395|ICD10:I80|NCIT:C38003|MESH:D010689 owl:Class MONDO:0012470 biolink:NamedThing prostate cancer, hereditary, 7 tmpak2llvmy_mondo_relaxed.owl prostate cancer aggressiveness|HPC7|prostate cancer, hereditary, 7 UMLS:C1853195|MESH:C565201|OMIM:610321 owl:Class MONDO:0032921 biolink:NamedThing neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation tmpak2llvmy_mondo_relaxed.owl NEDHRIT|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION OMIM:618797 owl:Class MONDO:0002308 biolink:NamedThing giant papillary conjunctivitis Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. tmpak2llvmy_mondo_relaxed.owl GPC UMLS:C0009769|DOID:2457|ICD9:372.39|NCIT:C34507|GARD:0008445|SCTID:231857004 https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis owl:Class MONDO:0002309 biolink:NamedThing papillary conjunctivitis Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. tmpak2llvmy_mondo_relaxed.owl ICD9:372.39|NCIT:C35616|UMLS:C0854165|SCTID:416878008|DOID:2458 owl:Class MONDO:0000949 biolink:NamedThing conjunctival degeneration tmpak2llvmy_mondo_relaxed.owl ICD10:H11.10|ICD9:372.50|DOID:10139|UMLS:C0155160|SCTID:40787005 owl:Class UBERON:0011134 biolink:NamedThing nonsynovial joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. tmpak2llvmy_mondo_relaxed.owl solid joint owl:Class MONDO:0014273 biolink:NamedThing microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. tmpak2llvmy_mondo_relaxed.owl MRT40|intellectual disability, autosomal recessive 40|microcephaly-thin corpus callosum-intellectual disability syndrome|mental retardation, autosomal recessive 40|intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive type 40 ICD10:Q87.8|OMIM:615599|UMLS:C3810080|Orphanet:397951 owl:Class HP:0011368 biolink:NamedThing Epidermal thickening Thickening of the epidermal layer of the skin. tmpak2llvmy_mondo_relaxed.owl Abnormality of keratinization UMLS:C4020752|UMLS:C0494876 peter 2012-03-03T12:25:18Z HP:0001035 human_phenotype owl:Class MONDO:0003885 biolink:NamedThing colorectal lipoma A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. tmpak2llvmy_mondo_relaxed.owl colorectal lipoma|lipoma of large bowel|large bowel lipoma|lipoma of large intestine|large intestine lipoma|lipoma of the large bowel|lipoma of the large intestine DOID:6460|NCIT:C5678|UMLS:C1333114 owl:Class MONDO:0011740 biolink:NamedThing Carney-Stratakis syndrome Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. tmpak2llvmy_mondo_relaxed.owl Carney-Stratakis dyad|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|Carney-Stratakis syndrome|Carney dyad|gist-paraganglioma dyad|paraganglioma and gastric stromal sarcoma|paraganglioma and gastrointestinal stromal tumor|paraganglioma and gist OMIM:606864|ICD10:D44.8|GARD:0010643|UMLS:C1847319|NCIT:C94831|SCTID:722377004|MESH:C564650|Orphanet:97286|DOID:0080533 owl:Class MONDO:0010587 biolink:NamedThing epidermodysplasia verruciformis, X-linked X-linked form of epidermodysplasia verruciformis. tmpak2llvmy_mondo_relaxed.owl EDVX|EDV2|epidermodysplasia verruciformis, X-linked|X-linked epidermodysplasia verruciformis MESH:C564430|UMLS:C1844589|OMIM:305350 owl:Class HGNC:2699 biolink:NamedThing DDX3Y tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001478 biolink:NamedThing anisometropia A condition of an inequality of refractive power of the two eyes. tmpak2llvmy_mondo_relaxed.owl anisometropia (disease)|anisometropia anisometropia (disease) ICD10:H52.31|ICD9:367.31|SCTID:3289004|HP:0012803|DOID:12273|MESH:D015858|CSP:1116-1678|UMLS:C0003081 owl:Class HGNC:11908 biolink:NamedThing TNFRSF11A tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000745 biolink:NamedThing retina horizontal cell A neuron that laterally connects other neurons in the inner nuclear layer of the retina. tmpak2llvmy_mondo_relaxed.owl horizontal cell BTO:0004120 cell owl:Class CL:0009004 biolink:NamedThing retinal cell Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpak2llvmy_mondo_relaxed.owl PMID:10702418 cell owl:Class MONDO:0044336 biolink:NamedThing colorectal signet ring cell carcinoma An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate. tmpak2llvmy_mondo_relaxed.owl colorectal signet Ring cell carcinoma UMLS:C1707440|NCIT:C43586 owl:Class MONDO:0014331 biolink:NamedThing Moyamoya disease with early-onset achalasia Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. tmpak2llvmy_mondo_relaxed.owl Moyamoya disease 6 with achalasia|MYMY6 Orphanet:401945|ICD10:I67.5|UMLS:C3810403|SCTID:718551002|OMIM:615750 owl:Class MONDO:0016820 biolink:NamedThing Moyamoya disease Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. tmpak2llvmy_mondo_relaxed.owl Moyamoya disease, secondary|progressive intracranial arterial occlusion|idiopathic Moyamoya disease|Moyamoya disease, primary|MYMY NCIT:C84895|OMIMPS:252350|UMLS:C0026654|ICD9:437.5|ICD10:I67.5|Orphanet:2573|MESH:D009072|MedDRA:10028047|GARD:0007064|DOID:13099|SCTID:89142007 owl:Class MONDO:0011850 biolink:NamedThing migraine with or without aura, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 5|Mgr5|migraine with or without aura, susceptibility to, 5 OMIM:607508 owl:Class HGNC:10939 biolink:NamedThing SLC1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0034127 biolink:NamedThing IgA pemphigus tmpak2llvmy_mondo_relaxed.owl Orphanet:555905 owl:Class MONDO:0009420 biolink:NamedThing primary hypergonadotropic hypogonadism-partial alopecia syndrome This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. tmpak2llvmy_mondo_relaxed.owl Al Awadi-Farag-Teebi syndrome|hypergonadotropic hypogonadism and partial alopecia OMIM:241090|SCTID:719275009|ICD10:E28.3|MESH:C567109|Orphanet:2232|ICD10:E29.1 owl:Class MONDO:0030318 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 30 tmpak2llvmy_mondo_relaxed.owl SCAR30|spinocerebellar ataxia, autosomal recessive 30 OMIM:619405 owl:Class NCBITaxon:55872 biolink:NamedThing Dracunculoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6274 biolink:NamedThing Spirurina tmpak2llvmy_mondo_relaxed.owl Spirurida GC_ID:1 NCBITaxon:6294 ncbi_taxonomy owl:Class MONDO:0017315 biolink:NamedThing short stature-webbed neck-heart disease syndrome Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl Al Gazali-Aziz-Salem syndrome|Al Gazali Aziz Salem syndrome|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|short stature, webbed neck, heart disease UMLS:C2930950|GARD:0000583|Orphanet:2865|MESH:C535613|SCTID:721073008|ICD10:Q87.8 owl:Class HGNC:1736 biolink:NamedThing CDC42 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010534 biolink:NamedThing X-linked spinocerebellar ataxia type 4 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. tmpak2llvmy_mondo_relaxed.owl ataxia-dementia syndrome, X-linked|spinocerebellar ataxia, X-linked 4|spinocerebellar ataxia, X-linked type 4|SCAX4|Scax4|ataxia-dementia syndrome X-linked|spinocerebellar ataxia X-linked type 4|X-linked ataxia-dementia syndrome Orphanet:85292|MESH:C537316|ICD10:G11.1|GARD:0009980|UMLS:C1844933|SCTID:719818007|OMIM:301840 https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 owl:Class UBERON:0002341 biolink:NamedThing epithelium of segmental bronchus An epithelium that is part of a segmental bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl segmental bronchial epithelium|tertiary bronchus epithelium|epithelial tissue of tertiary bronchus|segmental bronchus epithelial tissue|epithelium of tertiary bronchus|segmental bronchus epithelium|epithelial tissue of segmental bronchus|tertiary bronchus epithelial tissue owl:Class MONDO:0004086 biolink:NamedThing ciliary body epithelioid cell melanoma A epithelioid cell melanoma that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl epithelioid cell melanoma of ciliary body|ciliary body epithelioid cell melanoma|epithelioid cell melanoma of the ciliary body NCIT:C6119|DOID:7042|UMLS:C1333050 owl:Class MONDO:0030339 biolink:NamedThing microcephaly 28, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH28|microcephaly 28, primary, autosomal recessive OMIM:619453 owl:Class MONDO:0014566 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2U Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. tmpak2llvmy_mondo_relaxed.owl MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|autosomal dominant Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth neuropathy, type 2U|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth neuropathy type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|CMT2U|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U OMIM:616280|SCTID:765046002|DOID:0110173|ICD10:G60.0|Orphanet:397735|UMLS:C4084821 owl:Class MONDO:0017565 biolink:NamedThing macrodactyly of fingers, bilateral tmpak2llvmy_mondo_relaxed.owl macrodactyly of hand, bilateral ICD10:Q74.0|Orphanet:295241 owl:Class MONDO:0021633 biolink:NamedThing cerebral astrocytoma An astrocytoma that arises from the cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl astrocytoma of the cerebrum|cerebral astrocytoma|cerebral hemispheric astrocytoma|astrocytoma (excluding glioblastoma) of cerebral hemisphere|astrocytoma of cerebrum|astrocytoma of cerebral hemispheres|cerebral hemisphere astrocytoma (excluding glioblastoma)|astrocytoma of the cerebral hemispheres NCIT:C4951|SCTID:99131000119108 owl:Class MONDO:0019704 biolink:NamedThing primary bone dysplasia with decreased bone density tmpak2llvmy_mondo_relaxed.owl primary skeletal dysplasia with decreased bone density|primary osteodysplasia with decreased bone density 2022-01-01 Orphanet:93446 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class UBERON:0011583 biolink:NamedThing stylopodial skeleton Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. tmpak2llvmy_mondo_relaxed.owl propodium|propodial skeleton|stylopod|stylopodium|mesomere 1|stylopodium skeleton|proximal metapterygial mesomere owl:Class MONDO:0100344 biolink:NamedThing Bartter disease type 1 tmpak2llvmy_mondo_relaxed.owl BARTS1|Bartter syndrome caused by mutation in SLC12A1|Bartter syndrome, furosemide-amiloride type|hypokalemic alkalosis with hypercalciuria antenatal 1|Bartter syndrome, type 1, antenatal|Bartter syndrome type 1 antenatal|Bartter syndrome, furosemide type|Bartter syndrome, antenatal, type 1|Bartter disease type 1|hypokalemic alkalosis with hypercalciuria 1, antenatal|SLC12A1 Bartter syndrome|antenatal Bartter syndrome type 1|hyperprostaglandin E syndrome|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter syndrome type 1|antenatal Bartter syndrome|Bartter syndrome antenatal type 1|hyperprostaglandin E syndrome 1|hypokalemic alkalosis with hypercalciuria 1 antenatal ICD10:E26.8|GARD:0000830|DOID:0110142|MESH:C537652|OMIM:601678|SCTID:700107006 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008561 biolink:NamedThing thumb deformity tmpak2llvmy_mondo_relaxed.owl thumb deformity (disease)|thumb hypoplastic|thumb deformity|thumb absent or hypoplastic thumb deformity (disease) GARD:0008482|MESH:C536903|HP:0001172|OMIM:188100 owl:Class MONDO:0019311 biolink:NamedThing woolly hair nevus Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. tmpak2llvmy_mondo_relaxed.owl wooly hair nevus UMLS:C0343114|Orphanet:79414|SCTID:239124001|ICD10:D23.4 owl:Class MONDO:0008093 biolink:NamedThing nevus, epidermal A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed. tmpak2llvmy_mondo_relaxed.owl Nevus, woolly hair|Epidermal Nevus|nevus, epidermal|Nevus sebaceous|Nevus, Keratinocytic, nonepidermolytic|nonepidermolytic keratinocytic nevus NCIT:C4088|MESH:C580062|GARD:0013025|DOID:0111162|OMIM:162900 owl:Class CHEBI:33252 biolink:NamedThing atomic nucleus A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. tmpak2llvmy_mondo_relaxed.owl nucleus|nucleo atomico|Atomkern|nucleus atomi|nucleo|nuclei|Kern|noyau|noyau atomique owl:Class HGNC:19747 biolink:NamedThing EVC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005831 biolink:NamedThing lymph node tuberculosis Tuberculosis of the lymph node. tmpak2llvmy_mondo_relaxed.owl king's evil|scrofula|tuberculous lymphadenopathy|tuberculous adenitis|lymph node tuberculosis NCIT:C26896|SCTID:10893003|ICD10:A18.2|EFO:0007350|DOID:4889|MESH:D014388 owl:Class UBERON:0009603 biolink:NamedThing right lung associated mesenchyme Mesenchyme that is part of a developing right lung. tmpak2llvmy_mondo_relaxed.owl right lung mesenchyme owl:Class UBERON:0004883 biolink:NamedThing lung mesenchyme The mass of tissue made up of mesenchymal cells in the lung. tmpak2llvmy_mondo_relaxed.owl lung-associated mesenchyme|pulmonary mesenchyme|mesenchyme of lung owl:Class UBERON:0009035 biolink:NamedThing renal straight tubule Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. tmpak2llvmy_mondo_relaxed.owl kidney straight tubule|straight tubule owl:Class UBERON:0004384 biolink:NamedThing epiphysis of femur An epiphysis that is part of a femur [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl femoral epiphysis owl:Class MONDO:0008245 biolink:NamedThing piebald trait-neurologic defects syndrome Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. tmpak2llvmy_mondo_relaxed.owl telfer Sugar Jaeger syndrome|piebald trait neurologic defects|telfer-Sugar-Jaeger syndrome|White forelock and leukoderma with neurological impairment|piebald trait with neurologic defects UMLS:C1868311|OMIM:172850|Orphanet:2885|MESH:C536955|GARD:0005133 owl:Class MONDO:0009500 biolink:NamedThing kuru, susceptibility to tmpak2llvmy_mondo_relaxed.owl susceptibility to kuru|kuru, susceptibility to OMIM:245300|UMLS:C1855588 owl:Class MONDO:0006825 biolink:NamedThing kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) tmpak2llvmy_mondo_relaxed.owl kuru encephalopathy ICD10:A81.8|EFO:1001008|UMLS:C0022802|MedDRA:10023497|ICD9:046.0|Orphanet:454745|ICD10:A81.81|GARD:0007617|MESH:D007729|DOID:648|SCTID:86188000 https://rarediseases.info.nih.gov/diseases/7617/kuru owl:Class MONDO:0017075 biolink:NamedThing upper thoracic spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268770 owl:Class MONDO:0012359 biolink:NamedThing combined immunodeficiency due to partial RAG1 deficiency A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. tmpak2llvmy_mondo_relaxed.owl CID with expansion of gamma delta T cells|alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity|CID due to partial RAG1 deficiency|combined immunodeficiency with expansion of gamma delta T cells Orphanet:231154|ICD10:D81.8|UMLS:C4510944|OMIM:609889|UMLS:C1835931|SCTID:725290000|MESH:C563691 owl:Class PATO:0001548 biolink:NamedThing quality of a liquid A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. tmpak2llvmy_mondo_relaxed.owl liquidity owl:Class PATO:0002198 biolink:NamedThing quality of a substance A quality inhering in a bearer by virtue of its constitution. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002343 biolink:NamedThing abdomen musculature Set of all muscles in abdomen. tmpak2llvmy_mondo_relaxed.owl set of muscles of abdomen|abdominal musculature|muscles of abdomen|muscle group of abdomen|musculature of abdomen|musculature of abdominal wall owl:Class UBERON:0004479 biolink:NamedThing musculature of trunk Any collection of muscles that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscular system of trunk|set of muscles of trunk|muscle group of trunk owl:Class CHEBI:49169 biolink:NamedThing D-dopa The D-enantiomer of dopa. tmpak2llvmy_mondo_relaxed.owl 3,4-dihydroxy-D-phenylalanine|(+)-3-(3,4-dihydroxyphenyl)alanine|(+)-3,4-dihydroxyphenylalanine|D-3-(3,4-dihydroxyphenyl)alanine|dopa D-form|D-3,4-dihydroxyphenylalanine|3-hydroxy-D-tyrosine|D-dopa|(2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid owl:Class MONDO:0003822 biolink:NamedThing non-invasive bladder papillary urothelial neoplasm A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. tmpak2llvmy_mondo_relaxed.owl non-invasive bladder papillary urothelial neoplasm|bladder papillary neoplasm of low malignant potential|papillary urothelial neoplasm of low malignant potential|bladder PUNLMP DOID:6239|UMLS:C1518358|NCIT:C39831 owl:Class MONDO:0002899 biolink:NamedThing differentiating neuroblastoma A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. tmpak2llvmy_mondo_relaxed.owl differentiating neuroblastoma NCIT:C42048|DOID:4160|UMLS:C1511934 owl:Class MONDO:0015248 biolink:NamedThing ataxia-photosensitivity-short stature syndrome Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl Fenton-Wilkinson-Toselano syndrome UMLS:CN237421|Orphanet:1184 owl:Class MONDO:0014241 biolink:NamedThing leukemia, acute lymphoblastic, susceptibility to, 3 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. tmpak2llvmy_mondo_relaxed.owl leukemia, acute lymphoblastic, susceptibility to, 3|susceptibility to acute lymphoblastic leukemia 3|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|PAX5 precursor B-cell acute lymphoblastic leukemia|ALL3|leukemia, acute lymphoblastic, susceptibility to, type 3 UMLS:C3809874|OMIM:615545 owl:Class MONDO:0012402 biolink:NamedThing opioid dependence, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl opioid dependence, susceptibility to, 1|Ods1|opioid dependence, susceptibility to, type 1 OMIM:610064 owl:Class UBERON:0003428 biolink:NamedThing gonadal fat pad The encapsulated adipose tissue associated with the ovaries or testes. tmpak2llvmy_mondo_relaxed.owl fat pad of gonad|gonadal fat pad|gonad fat pad|gonad-associated fat pad|gonadal fat depot|fat pad of gonads owl:Class MONDO:0002574 biolink:NamedThing prostate embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features. tmpak2llvmy_mondo_relaxed.owl embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate|embryonal rhabdomyosarcoma (disease) of prostate gland NCIT:C5525|UMLS:C1335508|DOID:3251 owl:Class MONDO:0006389 biolink:NamedThing prostate rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma (disease) of prostate gland|prostate rhabdomyosarcoma|prostate gland rhabdomyosarcoma|prostate gland rhabdomyosarcoma (disease)|rhabdomyosarcoma of the prostate|rhabdomyosarcoma of prostate UMLS:C1335518|EFO:1000498|DOID:3252|NCIT:C5522 owl:Class MONDO:0100161 biolink:NamedThing hyperkalemic renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. tmpak2llvmy_mondo_relaxed.owl type 4 RTA|hyperkalemic RTA|type 4 renal tubular acidosis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024229 biolink:NamedThing miliaria crystallina A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum. tmpak2llvmy_mondo_relaxed.owl DOID:0070321|ICD10CM:L74.1 owl:Class HGNC:16404 biolink:NamedThing IL17F tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000666 biolink:NamedThing associative visual agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. tmpak2llvmy_mondo_relaxed.owl associative agnosia DOID:0060136 owl:Class MONDO:0004446 biolink:NamedThing olfactory groove meningioma A meningioma that affects the olfactory sulcus. tmpak2llvmy_mondo_relaxed.owl olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma (disease) of olfactory sulcus|meningioma of olfactory groove UMLS:C1335107|DOID:8057|NCIT:C6771 owl:Class MONDO:0017024 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a metabolic disease tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to childhood associated with a metabolic disease 2022-03-01 Orphanet:264719|UMLS:CN202337 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0016489 biolink:NamedThing delta-beta-thalassemia Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. tmpak2llvmy_mondo_relaxed.owl ICD9:282.49|ICD10:D56.2|NCIT:C172823|MedDRA:10012236|SCTID:16360009|Orphanet:231237|MESH:C562716 owl:Class HP:0000648 biolink:NamedThing Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. tmpak2llvmy_mondo_relaxed.owl Optic-nerve degeneration|Optic nerve atrophy MSH:D009896|UMLS:C0029124|SNOMEDCT_US:76976005 The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. HP:0007855|HP:0007751 human_phenotype owl:Class MONDO:0018492 biolink:NamedThing hereditary clear cell renal cell carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. tmpak2llvmy_mondo_relaxed.owl hereditary clear cell renal cell adenocarcinoma|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional (clear cell) renal cell carcinoma|hereditary conventional renal cell carcinoma|Hereditary clear cell renal cell cancer ICD10:C64|Orphanet:422526|DOID:7192|UMLS:CN237493|NCIT:C36260|SCTID:764961009 MONDO:0004137 owl:Class MONDO:0003008 biolink:NamedThing hereditary renal cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary renal carcinoma|hereditary renal cell carcinoma (disease)|familial renal carcinoma|hereditary renal cell carcinoma|hereditary renal cell cancer NCIT:C39789|MESH:C536851|DOID:4455|GARD:0009571|SCTID:717736007 https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma owl:Class UBERON:0001187 biolink:NamedThing testicular artery One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad. tmpak2llvmy_mondo_relaxed.owl internal spermatic|spermatic artery|internal spermatic arteries|spermatic vessels|arteria testicularis|internal spermatic artery|testicular arteries|spermatic arteries|testicular arterial tree|internal spermatic vessels owl:Class UBERON:0010192 biolink:NamedThing genital artery One of the laterally paired arteries that supply the gonads. tmpak2llvmy_mondo_relaxed.owl gonadal artery owl:Class MONDO:0001245 biolink:NamedThing microcytic anemia Anemia in which the red blood cell volume is decreased. tmpak2llvmy_mondo_relaxed.owl DOID:11252|NCIT:C35141|HP:0001935|SCTID:234349007 owl:Class MONDO:0009741 biolink:NamedThing neuroblastoma, susceptibility to tmpak2llvmy_mondo_relaxed.owl neuroblastoma, susceptibility to, 1|neuroblastoma, susceptibility to|susceptibility to neuroblastoma OMIM:256700 owl:Class MONDO:0005532 biolink:NamedThing Crohn's colitis Crohn's disease affecting the colon. tmpak2llvmy_mondo_relaxed.owl Crohn colitis DOID:0060192|EFO:0005622|ICD9:555.1|ICD10:K50.1|NCIT:C35211 owl:Class CL:1000494 biolink:NamedThing nephron tubule epithelial cell An epithelial cell that is part of a nephron tubule. tmpak2llvmy_mondo_relaxed.owl kidney tubule epithelial cell FMA:86785|KUPO:0001022 This needs to be further defined as a juxtamedullary nephron. Will request the juxtamedullary nephron tubule class from UBERON. cell owl:Class MONDO:0018376 biolink:NamedThing secondary non-traumatic avascular necrosis tmpak2llvmy_mondo_relaxed.owl secondary non-traumatic AVN Orphanet:399180|ICD10:M87.1|ICD10:M87.3 owl:Class CHEBI:25355 biolink:NamedThing mitochondrial respiratory-chain inhibitor tmpak2llvmy_mondo_relaxed.owl mitochondrial electron-transport chain inhibitor|mitochondrial respiratory chain inhibitors|mitochondrial electron transport chain inhibitors owl:Class CHEBI:38497 biolink:NamedThing respiratory-chain inhibitor tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030348 biolink:NamedThing Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpak2llvmy_mondo_relaxed.owl Increased circulating androgen level UMLS:C4072893 human_phenotype owl:Class HP:0030347 biolink:NamedThing Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpak2llvmy_mondo_relaxed.owl UMLS:C4072892 human_phenotype owl:Class MONDO:0000678 biolink:NamedThing simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. tmpak2llvmy_mondo_relaxed.owl DOID:0060148|GARD:0011943 https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia owl:Class GO:0071692 biolink:NamedThing protein localization to extracellular region Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. tmpak2llvmy_mondo_relaxed.owl protein localization in extracellular region|protein localisation in extracellular region owl:Class MONDO:0000517 biolink:NamedThing brain stem medulloblastoma A medulloblastoma that involves the brainstem. tmpak2llvmy_mondo_relaxed.owl brainstem medulloblastoma|medulloblastoma of brainstem DOID:0050899 owl:Class UBERON:0017651 biolink:NamedThing salivary gland primordium A primordium that has the potential to develop into a saliva-secreting gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022398 biolink:NamedThing aglossia and situs inversus A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. tmpak2llvmy_mondo_relaxed.owl GARD:0009211 Editor note: check relationship to MONDO:0008740 https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus owl:Class GO:0034756 biolink:NamedThing regulation of iron ion transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl regulation of Fe transport|regulation of iron import|regulation of iron ion import|regulation of iron transport owl:Class UBERON:0010690 biolink:NamedThing manual digit 1 epithelium An epithelium that is part of a manual digit 1. tmpak2llvmy_mondo_relaxed.owl manual digit I epithelium|fore limb digit 1 epithelium|hand digit 1 epithelium owl:Class MONDO:0013914 biolink:NamedThing hypogonadotropic hypogonadism 12 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. tmpak2llvmy_mondo_relaxed.owl eunuchoidism, familial hypogonadotropic|familial hypogonadotropic eunuchoidism|HH12|familial idiopathic gonadotrpin deficiency|hypogonadotropic hypogonadism 12 with or without anosmia|FIGD|gonadotropin deficiency, familial idiopathic|eunuchoidism familial hypogonadotropic|familial hypogonadotrophic eunuchoidism|gonadotropin deficiency familial idiopathic MESH:C535764|DOID:0090072|OMIM:614841|GARD:0000276|UMLS:C1856897|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic owl:Class MONDO:0016448 biolink:NamedThing pseudoxanthoma elasticum-like papillary dermal elastolysis Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. tmpak2llvmy_mondo_relaxed.owl PXE-PDE|PXE-like papillary dermal elastolysis SCTID:764105002|Orphanet:228293 owl:Class MONDO:0002286 biolink:NamedThing renal artery disease A disease involving the renal artery. tmpak2llvmy_mondo_relaxed.owl renal vascular disease|vascular disorder of kidney NCIT:C101254|SCTID:16934004|DOID:2388|ICD9:593.81|UMLS:C3640053|UMLS:C0268790 owl:Class MONDO:0007747 biolink:NamedThing isolated hyperchlorhidrosis tmpak2llvmy_mondo_relaxed.owl isolated hyperchlorhidrosis|hyperchlorhidrosis, isolated Orphanet:542657|SCTID:709413001|OMIM:143860|DOID:0111371|ICD9:276.9 owl:Class MONDO:0016043 biolink:NamedThing isolated cleft lip Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. tmpak2llvmy_mondo_relaxed.owl isolated cleft lip (disease)|nonsyndromic cleft lip (disease) ICD10:Q36.1|ICD10:Q36.0|MedDRA:10009259|ICD10:Q36.9|Orphanet:199302 owl:Class MONDO:0004747 biolink:NamedThing cleft lip A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. tmpak2llvmy_mondo_relaxed.owl hare lip|cheiloschisis|cleft lip (disease)|cleft lip|cleft lip, unilateral, complete|labium leporinum|complete unilateral cleft lip cleft lip (disease) HP:0410030|ICD10:Q36|ICD9:749.11|ICD10:Q36.9|NCIT:C87175|MESH:D002971|EFO:0003959|DOID:9296|SCTID:80281008|ICD9:749.10|ICD9:749.1 owl:Class MONDO:0012781 biolink:NamedThing celiac disease, susceptibility to, 12 tmpak2llvmy_mondo_relaxed.owl celiac disease, susceptibility to, 12|CELIAC12|gluten-sensitive enteropathy, susceptibility to, 12 OMIM:612010 owl:Class MONDO:0033281 biolink:NamedThing polycystic kidney disease 5 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. tmpak2llvmy_mondo_relaxed.owl polycystic kidney disease caused by mutation in DZIP1L|DZIP1L polycystic kidney disease|PKD5|polycystic kidney disease 5 OMIM:617610|DOID:0080273 owl:Class MONDO:0020642 biolink:NamedThing polycystic kidney disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. tmpak2llvmy_mondo_relaxed.owl polycystic kidney disease|PKD - polycystic kidney disease|fibrocystic renal disease SCTID:82525005|OMIMPS:173900|DOID:0080322|MESH:D007690|NCIT:C75464 https://github.com/monarch-initiative/mondo/issues/3532 owl:Class MONDO:0003332 biolink:NamedThing malignant struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). tmpak2llvmy_mondo_relaxed.owl struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant ICDO:9090/3|UMLS:C0334525|DOID:5208|NCIT:C4291 owl:Class MONDO:0006444 biolink:NamedThing teratoma with malignant transformation A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. tmpak2llvmy_mondo_relaxed.owl dermoid cyst with malignant transformation|TMT|teratoma with malignant transformation UMLS:C0334523|ICDO:9084/3|ONCOTREE:TMT|EFO:1000563|GARD:0010646|NCIT:C4289 https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation owl:Class CHEBI:26666 biolink:NamedThing short-chain fatty acid An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. tmpak2llvmy_mondo_relaxed.owl SCFAs|short-chain fatty acids|SCFA owl:Class MONDO:0003314 biolink:NamedThing endometrioid stromal and related neoplasms of the vagina A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpak2llvmy_mondo_relaxed.owl endometrioid stromal and related neoplasms of the vagina|vagina endometrioid stromal and related neoplasms|endometrioid stromal and related tumors of the vagina|vaginal endometrial stromal tumor|endometrioid stromal and related neoplasms of vagina DOID:5171|UMLS:C4289585|NCIT:C40269 owl:Class MONDO:0060631 biolink:NamedThing Alkuraya-Kucinskas syndrome tmpak2llvmy_mondo_relaxed.owl ALKKUCS|Alkuraya-Kucinskas syndrome UMLS:CN737163|OMIM:617822|DOID:0111555 owl:Class GO:1905213 biolink:NamedThing negative regulation of mitotic chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007687 biolink:NamedThing kidney field region of the embryo into the area in which the kidney rudiment will develop. tmpak2llvmy_mondo_relaxed.owl kidney anlage owl:Class HGNC:2171 biolink:NamedThing CNTN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006807 biolink:NamedThing ectepicondyle of humerus A bony projection on the distal epiphysis of the humerus that is the attachment site for the extensor muscles of the distal parts of the forelimb. In humans, this is known as the lateral epicondyle, but the position varies across tetrapods. tmpak2llvmy_mondo_relaxed.owl dorsal epicondyle of the humerus|epicondylus lateralis (humerus)|lateral epicondyle|epicondylus lateralis humeri|e. lateralis humeri|ectepicondyle|lateral epicondyle of humerus|dorsal epicondyle of humerus owl:Class MONDO:0014013 biolink:NamedThing maternal riboflavin deficiency tmpak2llvmy_mondo_relaxed.owl riboflavin deficiency|maternal riboflavin deficiency|RBFVD Orphanet:411712|ICD10:P00.4 owl:Class MONDO:0044338 biolink:NamedThing autoimmune primary ovarian failure An autoimmune form of primary ovarian failure. tmpak2llvmy_mondo_relaxed.owl primary ovarian failure arising through autoimmunity UMLS:C0342508|SCTID:237790001|ICD9:279.49|ICD9:256.39 owl:Class MONDO:0008052 biolink:NamedThing myopathy with storage of glycoproteins and Glycosaminoglycans tmpak2llvmy_mondo_relaxed.owl myopathy with storage of glycoproteins and Glycosaminoglycans UMLS:C1834532|OMIM:160570|MESH:C563542 owl:Class UBERON:0004403 biolink:NamedThing periosteum of epiphysis A periosteum that is part of a epiphysis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epiphysis periosteum owl:Class MONDO:0010193 biolink:NamedThing Weaver syndrome Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. tmpak2llvmy_mondo_relaxed.owl WEAVER syndrome|Weaver like syndrome|WVS|Weaver Smith syndrome|Weaver syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|EZH2 related overgrowth|Weaver Williams syndrome|camptodactyly - overgrowth - unusual facies|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|WEAVER-like syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|Weaver-like syndrome|Weaver-Smith syndrome|camptodactyly-overgrowth-unusual facies syndrome UMLS:C0265210|Orphanet:3447|SCTID:63119004|OMIM:277590|ICD9:759.89|NCIT:C125599|GTR:AN0102080|ICD10:Q87.3|DOID:14731|GTR:AN0102079|MESH:C536687|UMLS:CN036342|GARD:0007878 owl:Class MONDO:0010121 biolink:NamedThing thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia-absent radius syndrome|thrombocytopenia absent radius syndrome|Tar syndrome|TAR|radial aplasia-thrombocytopenia syndrome|TAR syndrome|absent radii and thrombocytopenia|thrombocytopenia with absent radii (TAR) syndrome|thrombocytopenia absent radii|chromosome 1Q21.1 deletion syndrome, 200-Kb ICD9:759.89|SCTID:85589009|ICD10:Q87.2|Orphanet:3320|UMLS:C0175703|MedDRA:10071719|NCIT:C99038|GARD:0005116|MESH:C536940|OMIM:274000|DOID:14699 owl:Class MONDO:0054573 biolink:NamedThing Lopes-Maciel-Rodan syndrome tmpak2llvmy_mondo_relaxed.owl LOMARS|Lopes-Maciel-Rodan syndrome UMLS:C4479491|OMIM:617435 owl:Class UBERON:0003134 biolink:NamedThing female reproductive organ A female organ involved in reproduction tmpak2llvmy_mondo_relaxed.owl female reproductive system organ|female reproductive gland/organ|sex organ of female organism|female organism reproductive system organ|reproductive structure of female organism|female sex organ|female organism reproductive structure|female organism reproductive organ|female organism sex organ|reproductive system organ of female organism|reproductive organ of female organism owl:Class UBERON:0003133 biolink:NamedThing reproductive organ An organ involved in reproduction tmpak2llvmy_mondo_relaxed.owl genitalia|reproductive system organ|genital organ|sex organ owl:Class MONDO:0003421 biolink:NamedThing mixed cell adenoma An adenoma characterized by the presence of a mixed epithelial cell population. tmpak2llvmy_mondo_relaxed.owl mixed cell adenoma DOID:5385|UMLS:C0334323|ICDO:8323/0|NCIT:C4157 owl:Class GO:0015698 biolink:NamedThing inorganic anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015821 biolink:NamedThing mycosis fungoides and variants Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226743|Orphanet:178566|ICD10:C84.0 owl:Class MONDO:0100130 biolink:NamedThing adult acute respiratory distress syndrome A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. tmpak2llvmy_mondo_relaxed.owl adult acute respiratory distress syndrome|adult respiratory distress syndrome, ARDS|adult ARDS|respiratory distress syndrome, adult|adult RDS|ARDS|adult respiratory distress syndrome MESH:D012128|UMLS:C0035222|DOID:11394|SCTID:67782005|Orphanet:70578 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0060659 biolink:NamedThing neurodevelopmental disorder with poor language and loss of hand skills tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with poor language and loss of hand skills|NDPLHS OMIM:617903 owl:Class HGNC:12877 biolink:NamedThing ZMPSTE24 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012200 biolink:NamedThing posterior polymorphous corneal dystrophy 3 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, posterior polymorphous, type 3|corneal dystrophy, POSTERIOR polymorphous, 3|posterior polymorphous corneal dystrophy caused by mutation in ZEB1|PPCD3|posterior polymorphous corneal dystrophy type 3|ZEB1 posterior polymorphous corneal dystrophy|Ppcd3 MESH:C563788|UMLS:C1836724|DOID:0110857|ICD10:H18.50|OMIM:609141 owl:Class HGNC:11600 biolink:NamedThing TBX22 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003494 biolink:NamedThing ovarian squamous cell carcinoma A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl ovary squamous cell carcinoma|ovarian squamous cell cancer|ovarian squamous cell carcinoma UMLS:C2019443|NCIT:C40093|DOID:5531|EFO:1000432 owl:Class MONDO:0007195 biolink:NamedThing bifid nose, autosomal dominant tmpak2llvmy_mondo_relaxed.owl bifid nose, autosomal dominant OMIM:109740|UMLS:C2751431 owl:Class GO:0033089 biolink:NamedThing positive regulation of T cell differentiation in thymus Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. tmpak2llvmy_mondo_relaxed.owl positive regulation of thymocyte differentiation|positive regulation of T cell development in thymus|positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation owl:Class MONDO:0009362 biolink:NamedThing growth delay-hydrocephaly-lung hypoplasia syndrome Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. tmpak2llvmy_mondo_relaxed.owl hydrocephalus with associated malformations|retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities|game-Friedman-Paradice syndrome|game Friedman Paradice syndrome ICD10:Q87.8|OMIM:236640|MESH:C535406|GARD:0002427|UMLS:C1856052|SCTID:716198008|Orphanet:3035 owl:Class MONDO:0007686 biolink:NamedThing gray platelet syndrome Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. tmpak2llvmy_mondo_relaxed.owl Alpha storage pool deficiency|BDPLT4|platelet-type bleeding disorder 4|gray platelet syndrome|platelet alpha-granule deficiency|bleeding disorder, Platelet-type, 4|grey platelet syndrome|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|GPS OMIM:139090|ICD10:D69.1|UMLS:CN205641|Orphanet:721|UMLS:C2717750|MESH:D055652|DOID:0111044|NCIT:C84741|SCTID:51720005|UMLS:C0272302|GARD:0002562 https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome owl:Class MONDO:0020117 biolink:NamedThing alpha granule disease tmpak2llvmy_mondo_relaxed.owl ICD10:D69.1|Orphanet:98455|UMLS:CN207009 owl:Class NCBITaxon:2732532 biolink:NamedThing Sepolyvirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732421 biolink:NamedThing Papovaviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0000785 biolink:NamedThing chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. tmpak2llvmy_mondo_relaxed.owl chromosome scaffold|cytoplasmic chromatin|nuclear chromatin owl:Class HGNC:404 biolink:NamedThing ALDH2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012888 biolink:NamedThing Abnormality of the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022694 hecht 2014-06-11T09:40:02Z human_phenotype owl:Class HP:0000130 biolink:NamedThing Abnormality of the uterus An abnormality of the uterus. tmpak2llvmy_mondo_relaxed.owl Abnormality of the uterus|Uterine abnormalities|Uterine malformations MSH:C562565|SNOMEDCT_US:37849005|UMLS:C0266383 HP:0008692|HP:0008630 human_phenotype owl:Class MONDO:0007159 biolink:NamedThing arthrogryposis-like hand anomaly-sensorineural deafness syndrome Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. tmpak2llvmy_mondo_relaxed.owl distal arthrogryposis type 6|familial hand abnormality and sensori-neural deafness|arthrogryposis, distal, type 6|DA6|arthrogryposis-like hand anomaly and sensorineural deafness|arthrogryposis and sensorineural deafness Orphanet:1144|ICD10:Q68.8|UMLS:C1862471|OMIM:108200|MESH:C535386|GARD:0000784|SCTID:720515009 owl:Class MONDO:0015595 biolink:NamedThing posttransplant acute limbic encephalitis Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. tmpak2llvmy_mondo_relaxed.owl pale ICD10:A86|Orphanet:163921 owl:Class CL:0010002 biolink:NamedThing epithelial cell of umbilical artery An epithelial cell that is part_of a umbilical artery. tmpak2llvmy_mondo_relaxed.owl umbilical artery epithelial cell GOC:cjm owl:Class GO:2000819 biolink:NamedThing regulation of nucleotide-excision repair Any process that modulates the frequency, rate or extent of nucleotide-excision repair. tmpak2llvmy_mondo_relaxed.owl regulation of NER|regulation of intrastrand cross-link repair|regulation of pyrimidine-dimer repair, DNA damage excision|regulation of interstrand crosslink repair owl:Class HP:0010979 biolink:NamedThing Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormality of the level of lipoprotein cholesterol UMLS:C4023615 Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. peter 2011-02-07T09:47:29Z human_phenotype owl:Class HP:0003107 biolink:NamedThing Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism UMLS:C4025656 peter 2008-03-17T01:02:00Z HP:0003464 human_phenotype owl:Class MONDO:0017485 biolink:NamedThing femoral agenesis/hypoplasia, bilateral tmpak2llvmy_mondo_relaxed.owl femoral intercalary meromelia, bilateral Orphanet:295067|ICD10:Q72.4 owl:Class MONDO:0016032 biolink:NamedThing femoral agenesis/hypoplasia Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. tmpak2llvmy_mondo_relaxed.owl congenital short femur|femoral intercalary meromelia SCTID:93255008|ICD10:Q72.4|GARD:0001503|Orphanet:1987|ICD9:755.34 owl:Class MONDO:0017808 biolink:NamedThing duplication of the pituitary gland tmpak2llvmy_mondo_relaxed.owl Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome|hypophyseal duplication UMLS:CN203774|ICD10:Q89.2|Orphanet:314621 owl:Class MONDO:0100284 biolink:NamedThing X-linked intellectual disability An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. tmpak2llvmy_mondo_relaxed.owl X-linked intellectual disability http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2670 owl:Class HGNC:18121 biolink:NamedThing MFRP tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:123 biolink:NamedThing ACP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017784 biolink:NamedThing Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. tmpak2llvmy_mondo_relaxed.owl EBV-associated gastric carcinoma|EBVaGC Orphanet:313920|UMLS:CN203734|ICD10:C16.2|ICD10:C16.0|SCTID:716586009 owl:Class MONDO:0001173 biolink:NamedThing acute salpingitis Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpak2llvmy_mondo_relaxed.owl salpingitis, acute DOID:10973|SCTID:8912009|ICD10:N70.01|UMLS:C0269038|NCIT:C40120 owl:Class GO:0044271 biolink:NamedThing cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl nitrogen compound anabolism|nitrogen compound synthesis|nitrogen compound formation|nitrogen compound biosynthesis owl:Class MONDO:0010262 biolink:NamedThing hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses tmpak2llvmy_mondo_relaxed.owl hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response GARD:0009601|UMLS:C1970936|OMIM:300184|MESH:C537159 owl:Class GO:1900077 biolink:NamedThing negative regulation of cellular response to insulin stimulus Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl down regulation of cellular response to insulin stimulus|downregulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus owl:Class GO:0051250 biolink:NamedThing negative regulation of lymphocyte activation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. tmpak2llvmy_mondo_relaxed.owl inhibition of lymphocyte activation|down regulation of lymphocyte activation|down-regulation of lymphocyte activation|downregulation of lymphocyte activation owl:Class OBO:CHR_9606-chr1p35 biolink:NamedThing chr1p35 (Human) tmpak2llvmy_mondo_relaxed.owl 34300000 27600000 hg38 owl:Class MONDO:0015365 biolink:NamedThing autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant form of hereditary sensory and autonomic neuropathy. tmpak2llvmy_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal dominant ICD10:G60.8|Orphanet:140474|UMLS:CN228932 owl:Class MONDO:0024522 biolink:NamedThing amyloidosis, primary localized cutaneous, 1 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. tmpak2llvmy_mondo_relaxed.owl amyloidosis, primary localized cutaneous, type 1|PCA|PLCA1|lichen amyloidosis, familial|OSMR primary cutaneous amyloidosis|amyloidosis, primary localized cutaneous, 1|primary cutaneous amyloidosis caused by mutation in OSMR|amyloidosis 9|amyloidosis, familial cutaneous lichen|amyloidosis, primary cutaneous, 1 UMLS:C0268398|OMIM:105250 owl:Class FOODON:00001248 biolink:NamedThing fish food product A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins). tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0004419 biolink:NamedThing lymphoma-like variant infiltrating bladder urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, lymphoma-like variant DOID:7972|UMLS:C1512739|NCIT:C39822 owl:Class MONDO:0008564 biolink:NamedThing DiGeorge syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. tmpak2llvmy_mondo_relaxed.owl third and fourth pharyngeal pouch syndrome|velocardiofacial syndrome|Di-George syndrome|chromosome 22Q11.2 deletion syndrome|22q deletion syndrome(s)|DGS|velo-cardio-facial syndrome|Catch22|pharyngeal pouch syndrome|DiGeorge syndrome|22q11.2 Deletion syndrome|Shprintzen syndrome|DGS1|Takao VCF syndrome|DiGeorge's syndrome|DiGeorge anomaly|DiGeorge syndrome chromosome region|VCF|hypoplasia of thymus and parathyroids|Sphrintzen|DiGeorge syndrome type 1 UMLS:CN734570|SCTID:77128003|MESH:D004062|GTR:AN1145678|DOID:11198|OMIM:188400|ICD9:279.11|ICD10:D82.1|NCIT:C2989 owl:Class MONDO:0013877 biolink:NamedThing mitochondrial pyruvate carrier deficiency An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. tmpak2llvmy_mondo_relaxed.owl mitochondrial pyruvate carrier deficiency|MPYCD ICD10:E74.4|OMIM:614741|DOID:0080363|UMLS:C3553607|Orphanet:447784 owl:Class CHEBI:26766 biolink:NamedThing steroid lactone tmpak2llvmy_mondo_relaxed.owl steroid lactones owl:Class MONDO:0001706 biolink:NamedThing cerebral sarcoidosis Sarcoidosis of the cerebrum. tmpak2llvmy_mondo_relaxed.owl sarcoidosis of telencephalon|cerebral sarcoidosis|telencephalon sarcoidosis UMLS:C0398676|SCTID:111936002|DOID:13403|NCIT:C35441 owl:Class MONDO:0045047 biolink:NamedThing neurosarcoidosis A sarcoidosis that involves the nervous system. tmpak2llvmy_mondo_relaxed.owl sarcoidosis of nervous system|nervous system sarcoidosis|neurosarcoidosis MESH:C535814|SCTID:230193008|UMLS:C0393485 owl:Class MONDO:0043678 biolink:NamedThing chromosome inversion A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. tmpak2llvmy_mondo_relaxed.owl chromosomal Inversions|inversion|chromosomal inversion|Inversions, chromosomal|Inversions, chromosome|inversion, chromosomal|inversion, chromosome|chromosome Inversions|inv|inverted chromosome MESH:D007446|NCIT:C6827 owl:Class MONDO:0001990 biolink:NamedThing malignant cardiac peripheral nerve sheath neoplasm A very rare malignant peripheral nerve sheath tumor that arises from the heart. tmpak2llvmy_mondo_relaxed.owl malignant peripheral nerve sheath neoplasm of the heart|malignant Cardiac neurilemmoma|CARDIAC schwannoma, malignant|malignant heart schwannoma|malignant Cardiac schwannoma|malignant peripheral nerve sheath tumor of the heart|MPNST of heart|heart MPNST|Cardiac malignant peripheral nerve sheath tumor|MPNST of the heart|malignant neurilemmoma of the heart|malignant heart neurilemmoma|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|malignant peripheral nerve sheath tumor of heart|malignant schwannoma of the heart|malignant schwannoma of heart|malignant neurilemmoma of heart|malignant Cardiac peripheral nerve sheath tumor|malignant peripheral nerve sheath neoplasm of heart|malignant Cardiac peripheral nerve sheath neoplasm|Cardiac MPNST UMLS:C1334569|NCIT:C5367|DOID:14534 owl:Class GO:1904480 biolink:NamedThing positive regulation of intestinal absorption Any process that activates or increases the frequency, rate or extent of intestinal absorption. tmpak2llvmy_mondo_relaxed.owl upregulation of intestinal absorption|up regulation of intestinal absorption|activation of intestinal absorption|up-regulation of intestinal absorption owl:Class MONDO:0010236 biolink:NamedThing intellectual disability, X-linked 14 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 14|MRX14|mental retardation, X-linked 14|mental retardation, X-linked nonspecific, type 14|intellectual disability, X-linked nonspecific, type 14 MESH:C537454|OMIM:300062|GARD:0008557 owl:Class HGNC:8918 biolink:NamedThing PHEX tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000420 biolink:NamedThing building part A building part is a construction which is part of a building. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000070 biolink:NamedThing human construction A construction that has been assembled by deliberate human effort. tmpak2llvmy_mondo_relaxed.owl constructed feature owl:Class MONDO:0009974 biolink:NamedThing familial hemophagocytic lymphohistiocytosis type 1 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. tmpak2llvmy_mondo_relaxed.owl hemophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|Hplh1|familial HLH|familial hemophagocytic lymphohistiocytosis 1|FHL1|Hlh1|hemophagocytic lymphohistiocytosis, familial, 1|HLH1|familial hemophagocytic lymphohistiocytosis type 1|hemophagocytic reticulosis, familial|HPLH1|familial hemophagocytic lymphohistiocytosis|Erythrophagocytic lymphohistiocytosis, familial NCIT:C61276|UMLS:CN205265|UMLS:C0272199|OMIM:267700|MedDRA:10070904|ICD10:D76.1|DOID:0110921|UMLS:CN034020 Editor note: type 1 split out owl:Class MONDO:0003585 biolink:NamedThing adult liposarcoma A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpak2llvmy_mondo_relaxed.owl liposarcoma of adults|adult liposarcoma|liposarcoma NCIT:C7811|DOID:5693|UMLS:C0278608 owl:Class MONDO:0013571 biolink:NamedThing acatalasia A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. tmpak2llvmy_mondo_relaxed.owl acatalasemia|deficiency of catalase|acatalasia|catalase deficiency UMLS:C0268419|MESH:D020642|ICD9:277.6|SCTID:124202004|GARD:0000363|ICD10:E80.3|OMIM:614097|EFO:0004144|HGNC:1516|NCIT:C84526|Orphanet:926|DOID:2582 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100306 biolink:NamedThing disorder of defective peroxisome oxidative status Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation. tmpak2llvmy_mondo_relaxed.owl disorder of defective peroxisome oxidative status http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013514 biolink:NamedThing hypotrichosis 3 Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene. tmpak2llvmy_mondo_relaxed.owl HYPT3|hypotrichosis 3|KRT74 hypotrichosis|hypt3|hypotrichosis type 3|hypotrichosis simplex of the scalp 2|Htss2|hypotrichosis caused by mutation in KRT74 DOID:0110700|UMLS:C3151432|OMIM:613981 owl:Class MONDO:0007522 biolink:NamedThing Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. tmpak2llvmy_mondo_relaxed.owl classical Ehlers-Danlos syndrome|EDS I, formerly|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, type II, formerly|Ehlers-Danlos syndrome, gravis type, formerly|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers Danlos syndrome, mild classic type|Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome, classic type|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome classic type|Ehlers-Danlos syndrome, severe classic type|Ehlers Danlos syndrome, mitis type, formerly|EDS II|EDS I|EDS, classic type|EDS II, formerly|Ehlers-Danlos syndrome type 2|Ehlers-Danlos syndrome type 2 (formerly)|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, type II|Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, type I ICD10:Q79.6|GARD:0002088|UMLS:C4225429|Orphanet:287|SCTID:715318006 owl:Class MONDO:0000515 biolink:NamedThing bone chondrosarcoma A chondrosarcoma (disease) that involves the bone tissue. tmpak2llvmy_mondo_relaxed.owl bone tissue chondrosarcoma (disease)|chondrosarcoma (disease) of bone tissue DOID:0050897 owl:Class CHEBI:33670 biolink:NamedThing heteromonocyclic compound tmpak2llvmy_mondo_relaxed.owl heteromonocyclic compounds|heteromonocyclic compound owl:Class GO:0033686 biolink:NamedThing positive regulation of luteinizing hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of luteinizing hormone. tmpak2llvmy_mondo_relaxed.owl stimulation of luteinizing hormone secretion|upregulation of luteinizing hormone secretion|up-regulation of luteinizing hormone secretion|up regulation of luteinizing hormone secretion|activation of luteinizing hormone secretion owl:Class MONDO:0021495 biolink:NamedThing benign neoplasm of sublingual gland A benign neoplasm that involves the sublingual gland. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the sublingual gland|benign sublingual gland tumor|benign tumor of sublingual gland|benign tumor of the sublingual gland|benign sublingual gland neoplasm|sublingual gland benign neoplasm SCTID:92413008|NCIT:C4601|UMLS:C0347208 owl:Class MONDO:0013232 biolink:NamedThing brachydactylous dwarfism, Mseleni type Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD. tmpak2llvmy_mondo_relaxed.owl brachydactylous dwarfism Mseleni type|brachydactylous dwarfs of Mseleni|Mseleni JOINT disease|Mseleni joint disease SCTID:715470008|ICD10:Q77.7|GARD:0000960|OMIM:613342|UMLS:C2931420|Orphanet:2619|MESH:C537086 owl:Class HGNC:26444 biolink:NamedThing UROC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000565 biolink:NamedThing infective endocarditis Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue. tmpak2llvmy_mondo_relaxed.owl endocarditis infective|endocarditis, infective GARD:0006337|NCIT:C78265|DOID:0060000|Orphanet:570762|ICD9:136.9|SCTID:233850007 https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis owl:Class MONDO:0019871 biolink:NamedThing distal trisomy 2p Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. tmpak2llvmy_mondo_relaxed.owl distal duplication 2p|trisomy 2pter|telomeric duplication 2p|distal trisomy type 2p Orphanet:96070|SCTID:764518004|ICD10:Q92.3 owl:Class NCBITaxon:1653 biolink:NamedThing Corynebacteriaceae tmpak2llvmy_mondo_relaxed.owl Coryneform bacteria PMID:27864136|GC_ID:11|PMID:19244447|PMID:30186281 ncbi_taxonomy owl:Class MONDO:0017900 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|MSMD due to complete IFNgammaR2 deficiency|MSMD due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency ICD10:D84.8|UMLS:CN203956|Orphanet:319547 owl:Class UBERON:0001628 biolink:NamedThing posterior communicating artery One of a pair of right-sided and left-sided blood vessels in the circle of Willis. It connects the three cerebral arteries of the same side. Anteriorly, it is one portion of the terminal trifurcation of the internal carotid artery. The anterior cerebral artery and the middle cerebral artery are the other two branches of the trifurcation. Posteriorly, it communicates with the posterior cerebral artery. tmpak2llvmy_mondo_relaxed.owl arteria cerebri communicans posterior|posterior communicating segment of the basilar artery|caudal communicating segment|PCS|PCA owl:Class ENVO:01001691 biolink:NamedThing mass of compounded environmental materials An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:38946 biolink:NamedThing Paracoccidioides tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004410 biolink:NamedThing distal epiphysis of fibula A distal epiphysis that is part of a fibula [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower end of fibula|distal end of fibula owl:Class UBERON:0004231 biolink:NamedThing anal region smooth muscle A portion of smooth muscle tissue that is part of an anal region [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle of anal triangle|smooth muscle of anal region|anal region non-striated muscle|anal part of perineum smooth muscle tissue|smooth muscle of anal part of perineum|anal triangle smooth muscle|involuntary muscle of anal part of perineum|anal part of perineum non-striated muscle|non-striated muscle of anal part of perineum|anal part of perineum smooth muscle|involuntary muscle of anal region|anal part of perineum involuntary muscle|smooth muscle tissue of anal part of perineum|anal triangle involuntary muscle|anal region smooth muscle tissue|non-striated muscle of anal region|anal region involuntary muscle|smooth muscle tissue of anal triangle|involuntary muscle of anal triangle|anal triangle smooth muscle tissue|smooth muscle tissue of anal region|anal triangle non-striated muscle|non-striated muscle of anal triangle owl:Class UBERON:0003593 biolink:NamedThing thoracic cavity connective tissue A portion of connective tissue that is part of a thoracic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cavity of chest portion of connective tissue|pectoral cavity textus connectivus|connective tissue of cavity of chest|connective tissue of chest cavity|thoracic cavity textus connectivus|chest cavity portion of connective tissue|cavity of thorax connective tissue|connective tissue of pectoral cavity|textus connectivus of thoracic cavity|thoracic cavity portion of connective tissue|cavity of chest textus connectivus|textus connectivus of cavity of thorax|cavity of thorax textus connectivus|portion of connective tissue of pectoral cavity|cavity of thorax portion of connective tissue|cavity of chest connective tissue|portion of connective tissue of cavity of chest|pectoral cavity connective tissue|portion of connective tissue of chest cavity|chest cavity connective tissue|textus connectivus of cavity of chest|connective tissue of cavity of thorax|portion of connective tissue of thoracic cavity|pectoral cavity portion of connective tissue|portion of connective tissue of cavity of thorax|chest cavity textus connectivus|textus connectivus of chest cavity|textus connectivus of pectoral cavity|connective tissue of thoracic cavity owl:Class GO:0004336 biolink:NamedThing galactosylceramidase activity Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. tmpak2llvmy_mondo_relaxed.owl cerebroside galactosidase activity|ceramide galactosidase activity|galactosylceramidase I|galactocerebrosidase activity|beta-galactosylceramidase activity|galactosylceramide beta-galactosidase activity|galcerase activity|lactosylceramidase activity|lactosylceramidase I|cerebroside beta-galactosidase activity|galactocerebroside beta-galactosidase activity|galactocerebroside-beta-D-galactosidase activity|galactosylcerebrosidase activity|beta-galactocerebrosidase activity|galactocerebroside galactosidase activity|D-galactosyl-N-acylsphingosine galactohydrolase activity owl:Class MONDO:0008302 biolink:NamedThing centra precocious puberty 1 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. tmpak2llvmy_mondo_relaxed.owl central precocious puberty caused by mutation in KISS1R|CPPB1|precocious puberty, central, type 1|KISS1R central precocious puberty|precocious puberty, central, 1 OMIM:176400|UMLS:C3805879 owl:Class MONDO:0003829 biolink:NamedThing chromophil adenoma of the kidney A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. tmpak2llvmy_mondo_relaxed.owl renal papillary adenoma|chromophil adenoma of the kidney|papillary adenoma of the kidney DOID:6257|UMLS:C1518879|NCIT:C3687 owl:Class MONDO:0012308 biolink:NamedThing Joubert syndrome with renal defect Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. tmpak2llvmy_mondo_relaxed.owl JS-R|Joubert syndrome with renal anomalies|Joubert syndrome 4|JBTS4|Joubert syndrome type 4 ICD10:Q04.3|DOID:0110999|OMIM:609583|GARD:0010169|MESH:C536296|ICD10:Q61.5|NCIT:C74997|SCTID:716999001|Orphanet:220497 https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies owl:Class MONDO:0005355 biolink:NamedThing coronary restenosis Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. tmpak2llvmy_mondo_relaxed.owl MESH:D023903|EFO:0004224|UMLS:C0948480|DOID:4247 owl:Class MONDO:0002037 biolink:NamedThing pleural disease A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. tmpak2llvmy_mondo_relaxed.owl pleura disease or disorder|non-neoplastic pleural disease|disease of pleura|disorder of pleura|pleural disorder|pleura disease|disease or disorder of pleura|pleural disorders MESH:D010995|NCIT:C26859|UMLS:C0032226|SCTID:88075009|DOID:1532|ICD9:518.89 owl:Class UBERON:0000313 biolink:NamedThing portion of cartilage tissue in tibia Cartilage pertaining to the tibia. tmpak2llvmy_mondo_relaxed.owl tibial cartilage|cartilage of tibia owl:Class CHEBI:77956 biolink:NamedThing L-erythro-sphingosine(1+) A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl L-erythro-sphing-4-enine|(2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine(1+) owl:Class HGNC:13530 biolink:NamedThing RXYLT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000705 biolink:NamedThing Clostridium difficile colitis A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. tmpak2llvmy_mondo_relaxed.owl C. diff infection|C. diff colitis|pseudomembranous colitis|Clostridioides difficile caused colitis (disease)|Clostridioides difficile colitis (disease)|Clostridium difficile infection MedDRA:10009657|MESH:D004761|EFO:0009130|DOID:0060185|SCTID:423590009|NCIT:C35286|ICD10:A04.7 owl:Class MONDO:0006039 biolink:NamedThing infectious colitis A viral or bacterial infectious process affecting the large intestine. tmpak2llvmy_mondo_relaxed.owl infectious colitis EFO:1000035|SCTID:39341005|UMLS:C0277524|NCIT:C78359 owl:Class HGNC:10961 biolink:NamedThing SLCO1B3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004706 biolink:NamedThing bulbus cordis a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches tmpak2llvmy_mondo_relaxed.owl primitive right ventricle endocardium owl:Class MONDO:0020556 biolink:NamedThing pleuropulmonary blastoma type 2 A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl type II pleuropulmonary blastoma ICD10:C34.8|ICD9:162.9|Orphanet:99934|ICD10:C34.9|ICD10:C34.1|ICD10:C34.3|UMLS:CN207458|NCIT:C45627|ICD10:C34.2|SCTID:707672001 owl:Class MONDO:0013079 biolink:NamedThing primary biliary cholangitis 2 tmpak2llvmy_mondo_relaxed.owl PBC2|biliary cirrhosis, primary, 2 MESH:C567817|OMIM:613007|UMLS:C2751696 owl:Class MONDO:0013881 biolink:NamedThing congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. tmpak2llvmy_mondo_relaxed.owl congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|congenital NEP syndrome|JEB-RR|ILNEB|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|junctional epidermolysis bullosa with respiratory and renal involvement|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|congenital ILNEB syndrome|JEB with respiratory and renal involvement Orphanet:306504|UMLS:C3553636|OMIM:614748 owl:Class MONDO:0005997 biolink:NamedThing tricuspid valve stenosis Narrowing or stricture of the tricuspid orifice of the heart. tmpak2llvmy_mondo_relaxed.owl tricuspid stenosis UMLS:C0040963|MESH:D014264|SCTID:49915006|DOID:4078|HP:0010446|EFO:0007525 owl:Class UBERON:0013702 biolink:NamedThing body proper The region of the organism associated with the visceral organs. tmpak2llvmy_mondo_relaxed.owl body|whole body owl:Class MONDO:0019866 biolink:NamedThing mosaic trisomy 5 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. tmpak2llvmy_mondo_relaxed.owl trisomy 5 mosaicism|Mosaic trisomy chromosome 5|Mosaic trisomy type 5 SCTID:764629008|ICD10:Q92.1|Orphanet:96060|MESH:C537762 owl:Class MONDO:0009784 biolink:NamedThing ophthalmoplegic neuromuscular disorder with abnormal mitochondria tmpak2llvmy_mondo_relaxed.owl ophthalmoplegic neuromuscular disorder with abnormal mitochondria UMLS:C1850302|OMIM:258470|MESH:C564925 owl:Class GO:0045665 biolink:NamedThing negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of neuron differentiation|downregulation of neuron differentiation|down-regulation of neuron differentiation|down regulation of neuron differentiation owl:Class MONDO:0008478 biolink:NamedThing spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia Algerian type|spondylometaphyseal dysplasia, Schmidt type|spondylometaphyseal dysplasia, Algerian type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia with severe genu valgum SCTID:719304005|MESH:C535794|ICD10:Q77.8|OMIM:184253|Orphanet:93316|GARD:0000504 owl:Class MONDO:0011745 biolink:NamedThing duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery tmpak2llvmy_mondo_relaxed.owl duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery GARD:0009227|UMLS:C1847196|MESH:C535722|OMIM:606894 https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery owl:Class HGNC:14074 biolink:NamedThing FMN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010791 biolink:NamedThing myoglobinuria, recurrent An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner. tmpak2llvmy_mondo_relaxed.owl myoglobinuria recurrent|myoglobinuria, recurrent MESH:C564018|OMIM:550500|GARD:0003879 https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent owl:Class MONDO:0020504 biolink:NamedThing genetic recurrent myoglobinuria Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. tmpak2llvmy_mondo_relaxed.owl ICD10:R82.1|Orphanet:99845|SCTID:716721003 owl:Class GO:1900542 biolink:NamedThing regulation of purine nucleotide metabolic process Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of purine metabolism|regulation of purine metabolic process|regulation of purine nucleotide metabolism owl:Class ENVO:01001366 biolink:NamedThing aerosolised particle formation process A process during which particles suspended in a gaseous medium are formed. tmpak2llvmy_mondo_relaxed.owl new particle formation process owl:Class MONDO:0020164 biolink:NamedThing epicanthal fold tmpak2llvmy_mondo_relaxed.owl ICD10:Q10.3|Orphanet:98573 owl:Class ENVO:01001048 biolink:NamedThing sediment environment An environmental system which has its properties and dynamics determined by sediment. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002493 biolink:NamedThing prostatic acinar adenocarcinoma An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. tmpak2llvmy_mondo_relaxed.owl acinar adenocarcinoma of prostate|acinar prostate adenocarcinoma|prostatic acinar adenocarcinoma|prostate acinar adenocarcinoma|acinar adenocarcinoma of the prostate NCIT:C5596|UMLS:C1332139|DOID:3024 owl:Class MONDO:0007362 biolink:NamedThing cone-rod dystrophy 2 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy|cone-rod dystrophy type 2|CRX cone-rod dystrophy|RCRD2|retinal cone-rod dystrophy 2|retinal cone-rod dystrophy|cone-rod dystrophy caused by mutation in CRX|cone-rod retinal dystrophy 2|cone-rod retinal dystrophy|cone-rod dystrophy 2|CORD2|CRD2 UMLS:CN074280|GARD:0006145|SCTID:80328002|OMIM:120970|ICD9:362.75|DOID:0111005 owl:Class UBERON:0008397 biolink:NamedThing tracheobronchial epithelium Epithelium pertaining to the trachea and bronchi. tmpak2llvmy_mondo_relaxed.owl bronchotracheal epithelium owl:Class MONDO:0017214 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). tmpak2llvmy_mondo_relaxed.owl adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria Orphanet:28|SCTID:69614003|ICD10:E71.1|GARD:0012623 https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia owl:Class MONDO:0002012 biolink:NamedThing methylmalonic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic acidemia, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria type cblB|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|methylmalonic aciduria|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B|methylmalonic aciduria, mut type|methylmalonic aciduria mut type|methylmalonic aciduria cblB type|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency SCTID:42393006|ICD9:270.7|DOID:14749|UMLS:C1855119|NCIT:C98986|GARD:0007033|ICD10:E71.120|UMLS:C0268583 owl:Class MONDO:0021093 biolink:NamedThing cranioectodermal dysplasia 1 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. tmpak2llvmy_mondo_relaxed.owl Sensenbrenner syndrome|IFT122 cranioectodermal dysplasia|cranioectodermal dysplasia type 1|Levin syndrome 1|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia 1|CED1 OMIM:218330 owl:Class UBERON:0035228 biolink:NamedThing tonsillar fossa Between the plica triangularis and the surface of the palatine tonsils is a space known as the tonsillar fossa (or tonsillar sinus); in many cases, however, this sinus is obliterated by its walls becoming adherent. tmpak2llvmy_mondo_relaxed.owl tonsillar bed|tonsillar sinus owl:Class HGNC:16873 biolink:NamedThing FIG4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019127 biolink:NamedThing polymyositis Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. tmpak2llvmy_mondo_relaxed.owl PM|polymyositis Orphanet:732|MedDRA:10036102|Wikipedia:Polymyositis|MESH:D017285|GARD:0007425|EFO:0003063|SCTID:31384009|NCIT:C26925|UMLS:C0085655|ICD9:710.4|ICD10:M33.2 owl:Class UBERON:0010042 biolink:NamedThing 1st arch mesenchyme Mesenchyme that is part of a pharyngeal arch 1. tmpak2llvmy_mondo_relaxed.owl mesenchyme of 1st arch owl:Class MONDO:0034212 biolink:NamedThing methotrexate toxicity tmpak2llvmy_mondo_relaxed.owl Orphanet:565782 owl:Class MONDO:0023250 biolink:NamedThing global disaccharide intolerance tmpak2llvmy_mondo_relaxed.owl GARD:0008386 https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance owl:Class MONDO:0006778 biolink:NamedThing halo nevus A benign melanocytic nevus with a halo appearance. tmpak2llvmy_mondo_relaxed.owl halo nevi|leukoderma acquisitum Centrifugum of Sutton MESH:D055882|EFO:1000958|UMLS:C0474824|GARD:0009421|ICD9:709.09|MedDRA:10062794|ICDO:8723/0|NCIT:C7602|SCTID:398028009 https://rarediseases.info.nih.gov/diseases/9421/halo-nevi owl:Class MONDO:0030072 biolink:NamedThing developmental and epileptic encephalopathy, 88 tmpak2llvmy_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88|DEE88|epileptic encephalopathy, early infantile, 88|EIEE88 OMIM:618959 owl:Class MONDO:0033980 biolink:NamedThing RELA fusion-positive ependymoma tmpak2llvmy_mondo_relaxed.owl Orphanet:530792 owl:Class MONDO:0019301 biolink:NamedThing metabolic disease with skin involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN205935|Orphanet:79387 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0024676 biolink:NamedThing childhood kidney Wilms tumor A Wilms tumor of the kidney which occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood renal Wilms' tumor|childhood kidney Wilms tumor|childhood Wilms tumor|Wilms tumor|kidney Wilms tumor|childhood renal Wilms tumor UMLS:C1333015|NCIT:C27730 owl:Class MONDO:0003054 biolink:NamedThing benign meningioma A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. tmpak2llvmy_mondo_relaxed.owl meningioma (disease), benign|benign meningioma (WHO grade I)|meningioma, benign NCIT:C4055|SCTID:724171006|UMLS:C0281784|DOID:4587 owl:Class UBERON:0005043 biolink:NamedThing mucosa of nasolacrimal duct A mucosa that is part of a nasolacrimal duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of nasolacrimal duct|nasolacrimal duct mucous membrane|nasolacrimal duct mucosa|nasolacrimal duct organ mucosa|nasolacrimal duct mucosa of organ|nasolacrimal ductal mucosa|mucosa of organ of nasolacrimal duct|mucous membrane of nasolacrimal duct owl:Class MONDO:0014536 biolink:NamedThing thrombocytopenia 5 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia caused by mutation in ETV6|thrombocytopenia type 5|THC5|thrombocytopenia, autosomal dominant, 5|thrombocytopenia 5 with increased susceptibility to malignancy|ETV6 thrombocytopenia|thrombocytopenia 5 UMLS:C4015537|OMIM:616216 owl:Class MONDO:0000748 biolink:NamedThing mastoiditis Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. tmpak2llvmy_mondo_relaxed.owl mastoid process of temporal bone inflammation|mastoiditis|mastoiditis (disease)|mastoid process of temporal boneitis|inflammation of mastoid process of temporal bone mastoiditis (disease) NCIT:C128368|SCTID:52404001|DOID:0060322|UMLS:C0024904|MESH:D008417|ICD10:H70.90|ICD10:H70.9|ICD9:383.9|HP:0000265 owl:Class MONDO:0002614 biolink:NamedThing bone inflammation disease Inflammation of the bone. tmpak2llvmy_mondo_relaxed.owl inflammatory disorder of bone|osteitis|bone inflammatory disease MESH:D010000|DOID:3342|SCTID:274144001|UMLS:C0029400 owl:Class MONDO:0001689 biolink:NamedThing hypertrophy of tongue papillae tmpak2llvmy_mondo_relaxed.owl tongue papillary hypertrophy ICD9:529.3|UMLS:C0392494|SCTID:6971002|ICD10:K14.3|DOID:13333 owl:Class MONDO:0003025 biolink:NamedThing conventional angiosarcoma An angiosarcoma characterized by the presence of malignant spindle endothelial cells. tmpak2llvmy_mondo_relaxed.owl conventional angiosarcoma UMLS:C1333155|NCIT:C9426|DOID:4512 owl:Class GO:0007155 biolink:NamedThing cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. tmpak2llvmy_mondo_relaxed.owl cell adhesion molecule activity|single organism cell adhesion owl:Class MONDO:0024919 biolink:NamedThing dog disease Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. tmpak2llvmy_mondo_relaxed.owl diseases, canine|diseases, Dog|canine diseases|disease, canine|disease, Dog|canine disease|dog disease MESH:D004283|UMLS:C0012979 owl:Class MONDO:0016667 biolink:NamedThing sickle cell disease associated with an other hemoglobin anomaly tmpak2llvmy_mondo_relaxed.owl Double heterozygotes sickling disorder ICD10:D57.2|UMLS:CN201907|Orphanet:251355|GARD:0012459 https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly owl:Class UBERON:0034713 biolink:NamedThing cranial neuron projection bundle Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain tmpak2llvmy_mondo_relaxed.owl cranial nerve fiber tract|neuron projection bundle from brain|cranial nerve fiber bundle|cranial nerve or tract owl:Class MONDO:0010913 biolink:NamedThing Caroli disease Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl Caroli disease isolated|CAROLI disease, isolated|congenital polycystic dilatation of intrahepatic bile ducts|cystic dilatation of the intrahepatic biliary tree MedDRA:10013003|ICD10:Q44.6|EFO:1001286|DOID:0050876|Orphanet:53035|GARD:0006002|NCIT:C84619|MESH:D016767|OMIM:600643|SCTID:717232005|UMLS:C0162510|UMLS:C1833541 https://rarediseases.info.nih.gov/diseases/6002/caroli-disease owl:Class MONDO:0017880 biolink:NamedThing Rift valley fever Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. tmpak2llvmy_mondo_relaxed.owl RVF DOID:1328|Orphanet:319251|MedDRA:10039143|UMLS:C0035613|MESH:D012295|ICD10:A92.4|SCTID:402917003|NCIT:C128419 owl:Class MONDO:0022754 biolink:NamedThing chromosome 17p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. tmpak2llvmy_mondo_relaxed.owl deletion 17p|chromosome 17p deletion syndrome|deletion 17p syndrome|del(17p)|17p- syndrome|interstitial deletion 17p|chromosome 17p deletion|monosomy 17p|17p deletion|loss of chromosome 17p|17p monosomy|partial monosomy 17p MESH:C538045|NCIT:C36499|GARD:0006075|UMLS:CN036220 Editor note: check this, MESH says 17 owl:Class MONDO:0013037 biolink:NamedThing Giacheti syndrome tmpak2llvmy_mondo_relaxed.owl Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome UMLS:C2752043|MESH:C567864|OMIM:612917 owl:Class MONDO:0003722 biolink:NamedThing internal auditory canal meningioma A meningioma that affects the internal auditory canal. tmpak2llvmy_mondo_relaxed.owl internal acoustic meatus meningioma (disease)|meningioma of the internal auditory canal|meningioma (disease) of internal acoustic meatus|meningioma of internal auditory canal DOID:5990|UMLS:C1334227|NCIT:C5307 owl:Class HP:0002344 biolink:NamedThing Progressive neurologic deterioration tmpak2llvmy_mondo_relaxed.owl Progressive neurodegeneration|Worsening neurological symptoms|Neurologic deterioration, progressive|Neurologic deterioration|Progressive mental deterioration UMLS:C1854838 human_phenotype owl:Class MONDO:0020197 biolink:NamedThing EEC syndrome and related syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:98609|UMLS:CN207046 Editor note: check this owl:Class HGNC:2452 biolink:NamedThing CSNK1D tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17175 biolink:NamedThing PLCE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006323 biolink:NamedThing non-seminomatous lesion A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma. tmpak2llvmy_mondo_relaxed.owl EFO:1000401 owl:Class MONDO:0016736 biolink:NamedThing rosette-forming glioneuronal tumor of fourth ventricule A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. tmpak2llvmy_mondo_relaxed.owl dysembryoplastic neuroepithelial tumor of cerebellum|DNT of the cerebellum|RGNT|rosette-forming glioneuronal tumor Orphanet:251975|UMLS:C4331262|NCIT:C129431|UMLS:CN201984 owl:Class MONDO:0002881 biolink:NamedThing vaginal adenosarcoma A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. tmpak2llvmy_mondo_relaxed.owl vaginal Mullerian adenosarcoma|vaginal adenosarcoma|vaginal Müllerian adenosarcoma|vagina adenosarcoma|adenosarcoma of vagina UMLS:C1519914|DOID:4117|NCIT:C40277 owl:Class MONDO:0002832 biolink:NamedThing endometrial transitional cell carcinoma A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells. tmpak2llvmy_mondo_relaxed.owl endometrial transitional cell carcinoma DOID:4005|NCIT:C40154|UMLS:C1516864 owl:Class MONDO:0002447 biolink:NamedThing endometrial carcinoma A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. tmpak2llvmy_mondo_relaxed.owl carcinoma, endometrial, malignant|endometrial carcinoma (disease)|endometrial carcinoma|endometrial cancer|endometrium carcinoma|carcinoma of endometrium|carcinoma of the endometrium endometrial carcinoma (disease) DOID:2871|HP:0012114|SCTID:254878006|ONCOTREE:UCEC|UMLS:C0476089|NCIT:C7558 owl:Class MONDO:0019136 biolink:NamedThing Zygomycosis Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. tmpak2llvmy_mondo_relaxed.owl mucormycosis|Zygomycota infectious disease MedDRA:10061418|SCTID:59277005|UMLS:C0043541|ICD10:B46.3|ICD10:B46.9|MESH:D020096|ICD10:B46.0|MESH:D009091|ICD10:B46|SCTID:76627001|ICD10:B46.2|ICD10:B46.1|MedDRA:10028098|ICD10:B46.8|Orphanet:73263|GARD:0010224|ICD10:B46.4|ICD9:117.7|ICD10:B46.5|NCIT:C77212|DOID:8485|EFO:0007380 MONDO:0005860 https://rarediseases.info.nih.gov/diseases/10224/zygomycosis owl:Class CL:0000467 biolink:NamedThing adrenocorticotropic hormone secreting cell A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin. tmpak2llvmy_mondo_relaxed.owl corticotrophin hormone secreting cell|adrenocorticotrophic hormone secreting cell|ACTH secreting cell|corticotropin secreting cell|corticotropin hormone secreting cell CL:0000640 cell owl:Class HGNC:25812 biolink:NamedThing SRD5A3 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03460141 biolink:NamedThing food modification process tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0141 LanguaL curation note: Used when the food product underwent mechanical, chemical or enzymatic modification that has affected the texture, flavor or other characteristic of the product. owl:Class FOODON:03460111 biolink:NamedThing food treatment process Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0111 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class MONDO:0013369 biolink:NamedThing hypertrophic cardiomyopathy 7 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpak2llvmy_mondo_relaxed.owl CMH7|cardiomyopathy, familial hypertrophic, type 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial hypertrophic 7|cardiomyopathy, familial hypertrophic, 7|hypertrophic cardiomyopathy type 7|TNNI3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy 7 DOID:0110313|UMLS:C1860752|OMIM:613690 owl:Class ENVO:01001164 biolink:NamedThing geodiversity A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009629 biolink:NamedThing Desbuquois dysplasia 1 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene. tmpak2llvmy_mondo_relaxed.owl Desbuquois dysplasia, Kim variant|CANT1 Desbuquois dysplasia|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois dysplasia type 1|Desbuquois dysplasia caused by mutation in CANT1|Desbuquois dysplasia 1|desbuquois syndrome|DBQD1 UMLS:C4012146|OMIM:251450 owl:Class MONDO:0010692 biolink:NamedThing nuclear ribonucleic acid tmpak2llvmy_mondo_relaxed.owl nRNA|nuclear ribonucleic acid OMIM:310650 owl:Class IAO:8000001 biolink:NamedThing base ontology module An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies. tmpak2llvmy_mondo_relaxed.owl base ontology module owl:Class UBERON:0004443 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 5 A proximal epiphysis that is part of a proximal phalanx of manual digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl basal epiphysis of proximal phalanx of little finger|base of proximal phalanx of little finger|base of proximal phalanx of fifth finger|base of proximal phalanx of fifth digit of hand|proximal epiphysis of proximal phalanx of little finger|proximal epiphysis of proximal phalanx of manual digit V owl:Class MONDO:0014820 biolink:NamedThing mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. tmpak2llvmy_mondo_relaxed.owl OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|MTDPS14|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|mitochondrial DNA depletion syndrome caused by mutation in OPA1 DOID:0080336|OMIM:616896|UMLS:C4225163 owl:Class MONDO:0033260 biolink:NamedThing deafness, autosomal dominant 73 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 73|DFNA73|autosomal dominant nonsyndromic deafness 73 UMLS:CN461628|OMIM:617663|DOID:0080269 owl:Class NCBITaxon:194924 biolink:NamedThing Desulfovibrionaceae tmpak2llvmy_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:213115 biolink:NamedThing Desulfovibrionales tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:16403855 ncbi_taxonomy owl:Class CL:0000669 biolink:NamedThing pericyte cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. tmpak2llvmy_mondo_relaxed.owl pericyte of Rouget|ARC|pericyte|adventitial reticular cell|cell of Rouget|adventitial cell BTO:0002441|FMA:63174 Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. CL:0000184 cell owl:Class MONDO:0016929 biolink:NamedThing partial duplication of chromosome 8 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 8|partial duplication of chromosome type 8 MESH:C537941|Orphanet:262638|SCTID:726347008 owl:Class MONDO:0007437 biolink:NamedThing dentin dysplasia type II Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. tmpak2llvmy_mondo_relaxed.owl dentin dysplasia, coronal|dentin dysplasia, type II|dentin dyspalsia, Shields type 2|pulp stones|coronal dentin dysplasia|pulpal dysplasia|anomalous dysplasia of dentin|dentin dysplasia, type 2|DTDP2|DD-II|Dtdp2|dentin dysplasia, Shields type 2 ICD10:K00.5|OMIM:125420|GARD:0001806|ICD9:520.5|Orphanet:99791|SCTID:109494000 owl:Class MONDO:0010116 biolink:NamedThing thoracomelic dysplasia tmpak2llvmy_mondo_relaxed.owl thoracolimb dysplasia, Rivera type|thoraco-limb dysplasia|Rivera-Perez-Salas syndrome|thoracomelic dysplasia|'thoraco-limb' dysplasia MESH:C564773|OMIM:273740|GARD:0010612|Orphanet:1803|UMLS:C1848863|ICD10:Q77.2 owl:Class CL:1000090 biolink:NamedThing pronephric nephron tubule epithelial cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005756 biolink:NamedThing ethmoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl ethmoiditis|sinusitis of ethmoid bone|ethmoidal sinusitis|ethmoid bone sinusitis EFO:0007264|SCTID:18643000|DOID:9507|MESH:D015521|NCIT:C34597|ICD10:J32.2|UMLS:C0015029 owl:Class MONDO:0010871 biolink:NamedThing succinic acidemia tmpak2llvmy_mondo_relaxed.owl succinic acidemia Orphanet:936|OMIM:600335|MESH:C563952|UMLS:C1838243 owl:Class MONDO:0006767 biolink:NamedThing gastric antral vascular ectasia Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. tmpak2llvmy_mondo_relaxed.owl watermelon stomach|gave MedDRA:10051585|NCIT:C84724|EFO:1000945|SCTID:43935004|DOID:2493|GARD:0007877|MESH:D020252 owl:Class MONDO:0002914 biolink:NamedThing childhood brain stem neoplasm A neoplasm that affects the brain stem and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric tumor of the brainstem|pediatric tumor of the brain stem|pediatric brainstem neoplasm|childhood brainstem cancer|brain stem neoplasm|childhood neoplasm of brain stem|childhood tumor of brain stem|pediatric tumor of brainstem|pediatric brainstem cancer|childhood brain stem tumor|pediatric brainstem tumor|childhood brainstem tumor|childhood brainstem neoplasm|brainstem cancer of childhood|pediatric brain stem tumor|childhood tumor of the brainstem|pediatric neoplasm of the brainstem|childhood neoplasm of the brain stem|pediatric brain stem neoplasm|pediatric neoplasm of brain stem|pediatric neoplasm of brainstem|childhood tumor of the brain stem|childhood tumor of brainstem|childhood brain stem neoplasm|pediatric neoplasm of the brain stem|childhood neoplasm of brainstem|pediatric tumor of brain stem|childhood neoplasm of the brainstem NCIT:C5969|UMLS:C1332951|EFO:1001767|DOID:4206 owl:Class UBERON:0011925 biolink:NamedThing preganglionic autonomic fiber Nerve fibers which project from the central nervous system to autonomic ganglia. In the sympathetic division most preganglionic fibers originate with neurons in the intermediolateral column of the spinal cord, exit via ventral roots from upper thoracic through lower lumbar segments, and project to the paravertebral ganglia; there they either terminate in synapses or continue through the splanchnic nerves to the prevertebral ganglia. In the parasympathetic division the fibers originate in neurons of the brain stem and sacral spinal cord. In both divisions the principal transmitter is acetylcholine but peptide cotransmitters may also be released. tmpak2llvmy_mondo_relaxed.owl preganglionic nerve fiber|preganglionic autonomic fibre owl:Class MONDO:0017332 biolink:NamedThing pyoderma gangrenosum-acne-suppurative hidradenitis syndrome tmpak2llvmy_mondo_relaxed.owl pash syndrome Orphanet:289478|EFO:0009009|UMLS:CN202977 owl:Class MONDO:0001972 biolink:NamedThing Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. tmpak2llvmy_mondo_relaxed.owl ICD10:A23.0|DOID:14456|ICD9:023.0|UMLS:C0302362|SCTID:427999003 owl:Class HGNC:1884 biolink:NamedThing CFTR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006647 biolink:NamedThing anterior cerebral artery infarction Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. tmpak2llvmy_mondo_relaxed.owl MESH:D020243|UMLS:C0751843|EFO:1000807|DOID:3528 owl:Class UBERON:0002118 biolink:NamedThing right ovary An ovary that is part of a right side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4118 biolink:NamedThing GALK1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000821 biolink:NamedThing B-1b B cell A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell. tmpak2llvmy_mondo_relaxed.owl B1b B cell|B1b B-lymphocyte|B-1b B lymphocyte|B1b cell|B1b B-cell|B1b B lymphocyte|B-1b B-cell|B-1b B-lymphocyte cell owl:Class MONDO:0002727 biolink:NamedThing olfactory nerve disease A disease involving the olfactory nerve. tmpak2llvmy_mondo_relaxed.owl olfactory nerve disease|disease of olfactory nerve|olfactory nerve disease or disorder|olfactory nerve disorder|disease or disorder of olfactory nerve|disorder of olfactory nerve|disorder of olfactory [1st] nerve|disorder of 1st nerve|disorder of the 1st nerve ICD10:G52.0|UMLS:C0751937|NCIT:C27210|DOID:367|MESH:D020431|ICD9:352.0|SCTID:68982002 owl:Class MONDO:0003033 biolink:NamedThing prostate angiosarcoma A malignant vascular neoplasm arising from the prostate. tmpak2llvmy_mondo_relaxed.owl angiosarcoma (disease) of prostate gland|hemangiosarcoma of the prostate|prostatic angiosarcoma|prostate hemangiosarcoma|angiosarcoma of the prostate|prostatic hemangiosarcoma|angiosarcoma of prostate|prostate angiosarcoma|hemangiosarcoma of prostate|prostate gland angiosarcoma (disease) NCIT:C5528|UMLS:C1335504|DOID:4524 owl:Class MONDO:0011931 biolink:NamedThing ovarian cancer, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl OVCAS1|ovarian cancer, susceptibility to, 1 OMIM:607893 owl:Class MONDO:0019733 biolink:NamedThing AFib amyloidosis tmpak2llvmy_mondo_relaxed.owl familial amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant|fibrinogen A alpha-chain amyloidosis ICD10:E85.0|UMLS:CN206640|Orphanet:93562 owl:Class MONDO:0007099 biolink:NamedThing familial visceral amyloidosis tmpak2llvmy_mondo_relaxed.owl amyloidosis, systemic Nonneuropathic|amyloidosis familial visceral|hereditary amyloidosis with primary renal involement|hereditary renal amyloidosis|hereditary amyloid nephropathy|amyloidosis familial renal|amyloidosis, familial visceral|familial amyloid nephropathy|amyloidosis VIII|amyloidosis, Ostertag type|Ostertag type amyloidosis|amyloidosis systemic nonneuropathic|systemic nonneuropathic amyloidosis|amyloidosis, familial renal|German type amyloidosis|amyloidosis 8|familial renal amyloidosis Orphanet:85450|GARD:0008282|MESH:C538249|OMIM:105200|SCTID:66451004|UMLS:C0268389|ICD10:E85.0|ICD9:277.39|DOID:0050636 https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral owl:Class MONDO:0020282 biolink:NamedThing metabolic disease with macular cherry-red spot tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98714|UMLS:CN207085 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class UBERON:0010375 biolink:NamedThing pancreas dorsal primordium tmpak2llvmy_mondo_relaxed.owl dorsal pancreas owl:Class HGNC:10964 biolink:NamedThing SLC22A18 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1386 biolink:NamedThing CABP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004834 biolink:NamedThing ischemic fasciitis A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. tmpak2llvmy_mondo_relaxed.owl atypical decubital fibroplasia SCTID:403990005|DOID:9601|NCIT:C6483|UMLS:C1304514 owl:Class MONDO:0011477 biolink:NamedThing tooth agenesis, selective, 3 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. tmpak2llvmy_mondo_relaxed.owl tooth agenesis, selective, 3|PAX9 tooth agenesis|hypodontia/oligodontia 3|tooth agenesis caused by mutation in PAX9|STHAG3|tooth agenesis, selective, type 3 OMIM:604625|MESH:C567036|UMLS:C1970291 owl:Class UBERON:0011978 biolink:NamedThing epiphysis of middle phalanx of manus An epiphysis that is part of a middle phalanx of manus. tmpak2llvmy_mondo_relaxed.owl epiphysis of middle phalanx of finger owl:Class HP:0025337 biolink:NamedThing Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. tmpak2llvmy_mondo_relaxed.owl Red eyes|Red eye 2017-02-12 12:27:39+00:00 HPO:probinson human_phenotype owl:Class MONDO:0019664 biolink:NamedThing short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. tmpak2llvmy_mondo_relaxed.owl short rib-polydactyly syndrome type III|Verma Naumoff syndrome|SRPS type 3|short rib polydactyly syndrome Verma Naumoff type|polydactyly with neonatal chondrodystrophy type III|short rib-polydactyly syndrome type 3 ICD9:759.89|ICD10:Q77.2|MESH:C537602|Orphanet:93271|GARD:0004835|SCTID:254051008|UMLS:C0432197 owl:Class MONDO:0002118 biolink:NamedThing urinary system disease A disease involving the renal system. tmpak2llvmy_mondo_relaxed.owl diseases, urologic|urologic disorder|disorder of the urinary system|urological disorders|urinary system disease|urological disease|disease or disorder of renal system|urinary system disorder|disease, urologic|renal system disease|disease, urinary tract|urological disorder|non-neoplastic urinary tract disease|disorder of urinary system|urological diseases|urinary tract diseases|renal system disease or disorder|urinary tract disease|urologic disease|disorder of renal system|disease, urological|disease of renal system|diseases, urinary tract|urinary tract disorder|urinary disease|diseases, urological UMLS:C1335051|NCIT:C3430|MESH:D014570|SCTID:128606002|ICD9:V47.4|DOID:18 owl:Class MONDO:0009786 biolink:NamedThing optic atrophy 6 tmpak2llvmy_mondo_relaxed.owl OPA6|optic atrophy, congenital or early infantile, autosomal recessive|optic atrophy 6 Orphanet:99012|MESH:C537127|OMIM:258500|DOID:0111435|GARD:0010200 owl:Class HGNC:7045 biolink:NamedThing MGAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000017 biolink:NamedThing spermatocyte A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. tmpak2llvmy_mondo_relaxed.owl FBbt:00004936|WBbt:0006799|CALOHA:TS-0951|EMAPA:31484|BTO:0001275|FMA:84049 cell owl:Class MONDO:0006152 biolink:NamedThing colon inflammatory polyp A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis. tmpak2llvmy_mondo_relaxed.owl inflammatory polyp of the colon|colonic inflammatory polyp|inflammatory polyp of colon NCIT:C5517|EFO:1000184|UMLS:C0267392 owl:Class MONDO:0000334 biolink:NamedThing multinodular goiter Nodular goiter characterized by more than one discrete tissue mass. tmpak2llvmy_mondo_relaxed.owl goiter, multinodular DOID:0050489|OMIMPS:138800|UMLS:C0342208|SCTID:237570007|NCIT:C131438 owl:Class HGNC:18150 biolink:NamedThing MYO18B tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17p13.3 biolink:NamedThing chr17p13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 3400000 0 hg38 owl:Class HP:0012337 biolink:NamedThing Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. tmpak2llvmy_mondo_relaxed.owl MP:0001764|UMLS:C4022950 peter 2013-09-13T09:23:23Z human_phenotype owl:Class MONDO:0033187 biolink:NamedThing combined oxidative phosphorylation defect type 29 tmpak2llvmy_mondo_relaxed.owl Orphanet:478029 owl:Class MONDO:0022293 biolink:NamedThing vascular disorder of penis A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. tmpak2llvmy_mondo_relaxed.owl penile vascular disorder|Penis vascular disorder|Penile vascular disorder|Penile Vascular Disorder|Vascular disorder of penis UMLS:C0156307|SCTID:198029003|ICD9:607.82|MEDGEN:102349|NCIT:C35218 owl:Class GO:0097237 biolink:NamedThing cellular response to toxic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001959 biolink:NamedThing labyrinthine bilateral reactive loss tmpak2llvmy_mondo_relaxed.owl loss of labyrinthine reactivity, bilateral|bilateral loss of labyrinthine reactivity ICD9:386.56|DOID:14413|UMLS:C0155520|SCTID:194377001 owl:Class MONDO:0010611 biolink:NamedThing X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. tmpak2llvmy_mondo_relaxed.owl aqueductal stenosis, X-linked|HYCX|Bickers-Adams syndrome|hydrocephalus with stenosis of the aqueduct of Sylvius|HSAS1|X-linked hydrocephalus with stenosis of the aqueduct of Sylvius|HSAS|X-linked acqueductal stenosis|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|XLAS|hydrocephalus, X-linked|X-linked HSAS|X-linked hydrocephalus GARD:0000434|OMIM:307000|SCTID:71779008|ICD10:Q03.0|MESH:C536078|Orphanet:2182 owl:Class MONDO:0010013 biolink:NamedThing schneckenbecken dysplasia Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. tmpak2llvmy_mondo_relaxed.owl SLC35D1-CDG|chondrodysplasia lethal neonatal with snail like pelvis|SHNKND|schneckenbecken dysplasia|chondrodysplasia with snail-like pelvis|chondrodysplasia, lethal neonatal, with snail-like pelvis UMLS:C0432194|ICD9:756.9|ICD10:Q77.7|Orphanet:3144|SCTID:254049009|DOID:0050775|OMIM:269250|MESH:C536637|GARD:0000169 https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia owl:Class MONDO:0017744 biolink:NamedThing disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis tmpak2llvmy_mondo_relaxed.owl UMLS:CN227191|Orphanet:309463|ICD10:E77.8 owl:Class MONDO:0000376 biolink:NamedThing respiratory system cancer A malignant neoplasm involving the respiratory system tmpak2llvmy_mondo_relaxed.owl cancer of respiratory system|malignant respiratory system neoplasm|malignant neoplasm of respiratory system|respiratory system cancer ICD9:165.9|ICD9:165.8|SCTID:449096009|UMLS:C3164456|DOID:0050615 owl:Class MONDO:0100036 biolink:NamedThing variable age onset epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. tmpak2llvmy_mondo_relaxed.owl variable age at onset electroclinical syndrome 2018-06-23 19:42:08+00:00 DOID:0050706|http://orcid.org/0000-0001-8486-0558 owl:Class MONDO:0004340 biolink:NamedThing mixed ductal-endocrine carcinoma of pancreas A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites. tmpak2llvmy_mondo_relaxed.owl mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma|mixed ductal-endocrine carcinoma of the pancreas UMLS:C1301048|DOID:7716|NCIT:C6879 owl:Class MONDO:0005184 biolink:NamedThing pancreatic ductal adenocarcinoma An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl pancreatic duct adenocarcinoma|pancreas ductal adenocarcinoma|ductal adenocarcinoma of pancreas|pancreatic duct cancer|ductal adenocarcinoma of the pancreas|pancreatic tubular adenocarcinoma|malignant neoplasm of duct of Wirsung|pancreatic ductal adenocarcinoma|pancreatic ductal carcinoma ICD10:C25.3|NCIT:C9120|EFO:0002517|DOID:3587|DOID:3498|UMLS:C0887833|ICD9:157.3|UMLS:C1335302|MESH:D021441 owl:Class MONDO:0016539 biolink:NamedThing atypical hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). tmpak2llvmy_mondo_relaxed.owl atypical HCS Orphanet:238523|ICD10:E72.0|UMLS:CN201620 owl:Class MONDO:0016538 biolink:NamedThing hypotonia-cystinuria syndrome type 1 tmpak2llvmy_mondo_relaxed.owl hypotonia-cystinuria type 1 syndrome 2021-01-01 UMLS:CN226952|Orphanet:238517|ICD10:E72.0 Reason: duplicate. This will be merged with MONDO:0011669 hypotonia-cystinuria syndrome owl:Class MONDO:0024617 biolink:NamedThing xanthogranuloma tmpak2llvmy_mondo_relaxed.owl xanthogranuloma SCTID:189099001|NCIT:C27302 owl:Class UBERON:0004467 biolink:NamedThing musculature of pharynx the collection of muscles that acts on the pharynx. tmpak2llvmy_mondo_relaxed.owl pharyngeal musculature|set of muscles of pharynx owl:Class UBERON:0003380 biolink:NamedThing cardiac muscle of left atrium A portion of cardiac muscle tissue that is part of a left atrium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl textus muscularis of myocardium of left atrium of heart|myocardium of left atrium|textus muscularis of myocardium of left cardiac atrium|textus muscularis of myocardium of heart left atrium|cardiac left atrium cardiac muscle|cardiac left atrium cardiac muscle tissue|left atrium myocardium|cardiac muscle of cardiac left atrium|left atrium heart muscle|cardiac muscle of heart left atrium|textus muscularis of myocardium of left atrium|textus muscularis of myocardium of cardiac left atrium|cardiac muscle of left atrium of heart owl:Class MONDO:0003052 biolink:NamedThing granulomatous endometritis Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. tmpak2llvmy_mondo_relaxed.owl granulomatous endometritis NCIT:C27626|DOID:4561|UMLS:C1333876 owl:Class SO:0000483 biolink:NamedThing nc_primary_transcript A primary transcript that is never translated into a protein. tmpak2llvmy_mondo_relaxed.owl nc primary transcript|noncoding primary transcript owl:Class SO:0000185 biolink:NamedThing primary_transcript A transcript that in its initial state requires modification to be functional. tmpak2llvmy_mondo_relaxed.owl primary transcript|INSDC_feature:prim_transcript|precursor RNA|INSDC_feature:precursor_RNA owl:Class MONDO:0007660 biolink:NamedThing familial ossifying fibroma An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl Jaffe-Campanacci syndrome|cemental dysplasia, periapical|hereditary ossifying fibroma (disease)|multiple ossifying fibroma|GIGANTIFORM cementoma, familial|Cementomas, familial multiple|intracortical fibrous dysplasia GARD:0010887|MESH:C563017|Orphanet:435329|OMIM:137575|ICD10:D16.4|UMLS:CN237560 owl:Class UBERON:0003057 biolink:NamedThing chordal neural plate The portion of neural plate posterior to the mid-hindbrain junction. tmpak2llvmy_mondo_relaxed.owl posterior neural plate owl:Class HGNC:17089 biolink:NamedThing SYNE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003009 biolink:NamedThing hyperaldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. tmpak2llvmy_mondo_relaxed.owl primary hyperaldosteronism ICD10:E26.9|DOID:446|UMLS:C0020428|ICD10:E26|MESH:D006929|ICD9:255.1|SCTID:88213004|ICD9:255.10 owl:Class MONDO:0014191 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 5 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene. tmpak2llvmy_mondo_relaxed.owl catecholaminergic polymorphic ventricular tachycardia type 5|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN|CPVT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|TRDN catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia 5|CVPT5 DOID:0060679|UMLS:C3809536|OMIM:615441|ICD10:I47.2 owl:Class MONDO:0011030 biolink:NamedThing epithelial basolateral chloride conductance regulator, rabbit, homolog of tmpak2llvmy_mondo_relaxed.owl epithelial basolateral chloride conductance regulator, rabbit, homolog of|Ebcr OMIM:601315 owl:Class MONDO:0014446 biolink:NamedThing Bardet-Biedl syndrome 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. tmpak2llvmy_mondo_relaxed.owl BBS18|Bardet-Biedl syndrome 18|Bardet-Biedl syndrome caused by mutation in BBIP1|Bardet-Biedl syndrome type 18|BBIP1 Bardet-Biedl syndrome UMLS:C3806174|ICD10:Q87.89|OMIM:615995|DOID:0110140 owl:Class CL:0002482 biolink:NamedThing dermal melanocyte A melanocyte that produces pigment in the dermis. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-12-03T03:17:05Z cell owl:Class MONDO:0014379 biolink:NamedThing ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. tmpak2llvmy_mondo_relaxed.owl Helsmoortel-VAN DER AA syndrome|intellectual disability, autosomal dominant 28|autosomal dominant intellectual disability 28|mental retardation, autosomal dominant 28|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|ADNP syndrome|autosomal dominant mental retardation 28|MRD28|HVDAS DOID:0070058|SCTID:766824003|ICD10:Q87.0|GARD:0012931|OMIM:615873|Orphanet:404448|UMLS:C4014538 owl:Class CL:0002327 biolink:NamedThing mammary gland epithelial cell An epithelial cell of the mammary gland. tmpak2llvmy_mondo_relaxed.owl breast epithelial cell|mammary epithelial cell BTO:0004300 tmeehan 2010-09-20T01:49:37Z cell owl:Class MONDO:0007581 biolink:NamedThing exchondrosis of pinna, posterior tmpak2llvmy_mondo_relaxed.owl exchondrosis of pinna, posterior|Ear bump MESH:C565036|OMIM:133500|UMLS:C1851463 owl:Class MONDO:0013329 biolink:NamedThing familial clubfoot due to 17q23.1q23.2 microduplication 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. tmpak2llvmy_mondo_relaxed.owl chromosome 17q23.1-q23.2 DUPLICATION syndrome|hereditary clubfoot due to 17q23.1-q23.2 microduplication OMIM:613618|UMLS:C3150880|Orphanet:238578|ICD10:Q66.8 owl:Class MONDO:0016046 biolink:NamedThing familial clubfoot with or without associated lower limb anomalies Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. tmpak2llvmy_mondo_relaxed.owl UMLS:CN200725|ICD10:Q66.8|Orphanet:199315 owl:Class CL:0000946 biolink:NamedThing antibody secreting cell A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0008237 biolink:NamedThing phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. tmpak2llvmy_mondo_relaxed.owl facioauriculoradial dysplasia|Stoll-levy-Francfort syndrome|phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-Lévy-Francfort syndrome OMIM:171480|ICD10:Q87.2|UMLS:C1868390|MESH:C537498|Orphanet:2878|GARD:0004323 owl:Class MONDO:0014533 biolink:NamedThing developmental and epileptic encephalopathy, 28 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 28|epileptic encephalopathy, early infantile, 28|WWOX early infantile epileptic encephalopathy|WWOX-related epileptic encephalopathy|WOREE syndrome|DEE28|EIEE28|early infantile epileptic encephalopathy caused by mutation in WWOX UMLS:C4015519|DOID:0080452|OMIM:616211 https://github.com/monarch-initiative/mondo/issues/3829 owl:Class MONDO:0013742 biolink:NamedThing familial mesial temporal lobe epilepsy with febrile seizures tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 11|febrile seizures, familial, type 11|FEB11 Orphanet:165805 owl:Class MONDO:0023021 biolink:NamedThing dwarfism lethal type advanced bone age tmpak2llvmy_mondo_relaxed.owl GARD:0001986 https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age owl:Class MONDO:0056818 biolink:NamedThing skin adenosquamous carcinoma An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components. tmpak2llvmy_mondo_relaxed.owl skin adenosquamous cancer|skin adenosquamous carcinoma UMLS:C1710103|NCIT:C54250 owl:Class GO:1904254 biolink:NamedThing regulation of iron ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl regulation of iron cation channel activity|regulation of iron channel activity|regulation of iron-specific channel activity owl:Class GO:0010817 biolink:NamedThing regulation of hormone levels Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032916 biolink:NamedThing Imagawa-Matsumoto syndrome tmpak2llvmy_mondo_relaxed.owl IMAGAWA-MATSUMOTO SYNDROME|IMMAS OMIM:618786 owl:Class MONDO:0000954 biolink:NamedThing Meckel diverticulum cancer A cancer involving a Meckel's diverticulum. tmpak2llvmy_mondo_relaxed.owl Meckel's diverticulum cancer|Meckel diverticulum cancer|cancer of Meckel's diverticulum|malignant Meckel's diverticulum neoplasm|malignant neoplasm of Meckel's diverticulum UMLS:C0153429|DOID:10152|ICD9:152.3|SCTID:187752007 owl:Class MONDO:0000955 biolink:NamedThing ileum cancer A malignant neoplasm involving the ileum tmpak2llvmy_mondo_relaxed.owl ileum cancer|cancer of ileum|malignant ileum neoplasm|malignant neoplasm of ileum DOID:10153|ICD10:C17.2|ICD9:152.2 owl:Class MONDO:0019462 biolink:NamedThing splenic marginal zone lymphoma Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. tmpak2llvmy_mondo_relaxed.owl splenic marginal zone B-cell lymphoma|SLVL|splenic marginal zone B-cell lymphoma with villous lymphocytes|splenic marginal zone lymphoma with villous lymphocytes|splenic marginal zone lymphoma|SMZL|splenic lymphoma with circulating villous lymphocytes|marginal zone lymphoma of spleen|marginal zone lymphoma of the spleen NCIT:C4663|DOID:0050750|ICD10:C83.0|UMLS:C0349632|ONCOTREE:SMZL|ICDO:9689/3|Orphanet:86854|MedDRA:10062113|EFO:1000550|SCTID:763666008 owl:Class MONDO:0000963 biolink:NamedThing esophageal lipoma A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. tmpak2llvmy_mondo_relaxed.owl esophageal lipoma|lipoma of esophagus|lipoma of the esophagus|esophagus lipoma NCIT:C5701|UMLS:C1333455|DOID:10187 owl:Class MONDO:0013891 biolink:NamedThing amyotrophic lateral sclerosis type 18 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis type 18|PFN1 amyotrophic lateral sclerosis|ALS18|amyotrophic lateral sclerosis 18|amyotrophic lateral sclerosis caused by mutation in PFN1 DOID:0060209|UMLS:C3553719|OMIM:614808 owl:Class MONDO:0021380 biolink:NamedThing neoplasm of myocardium A neoplasm (disease) that involves the myocardium. tmpak2llvmy_mondo_relaxed.owl neoplasm of myocardium|myocardial neoplasm|myocardium neoplasm|myocardium neoplasm (disease)|myocardium tumor|tumor of the myocardium|myocardial tumor|tumor of myocardium|neoplasm of the myocardium ICD9:239.89|SCTID:126732009|NCIT:C5349|UMLS:C1290402 owl:Class MONDO:0009273 biolink:NamedThing hydatidiform mole, recurrent, 1 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. tmpak2llvmy_mondo_relaxed.owl gestational trophoblastic disease|hydatidiform Mole, recurrent, type 1|complete hydatidiform mole caused by mutation in NLRP7|hydatidiform MOLE, recurrent, 1|hydatidiform Mole, complete|NLRP7 complete hydatidiform mole|hydatidiform mole, recurrent, 1|HYDM1|hydatidiform mole UMLS:C3463897|OMIM:231090 owl:Class UBERON:0005695 biolink:NamedThing manual digit 5 mesenchyme Mesenchyme that is part of a developing manual digit 5. tmpak2llvmy_mondo_relaxed.owl manual digit V mesenchyme|fore limb digit 5 mesenchyme|hand digit 5 mesenchyme owl:Class CL:0000509 biolink:NamedThing gastrin secreting cell A peptide hormone secreting cell that secretes gastrin. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0019157 biolink:NamedThing acquired idiopathic sideroblastic anemia Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. tmpak2llvmy_mondo_relaxed.owl refractory Anemia with ringed sideroblasts|refractory anemia with ringed sideroblasts|AISA|Pure sideroblastic Anemia|MDS-RS|refractory Anemia with Ring sideroblasts|myelodysplastic syndrome with Ring sideroblasts|primary acquired sideroblastic anemia|RARS EFO:0003812|ICDO:9982/3|NCIT:C4036|ICD9:238.72|ICD10:D64.3|SCTID:109998009|Orphanet:75564 MONDO:0005274 owl:Class HGNC:2896 biolink:NamedThing DLAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018199 biolink:NamedThing new-onset refractory status epilepticus New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. tmpak2llvmy_mondo_relaxed.owl New onset refractory status epilepticus|De novo cryptogenic refractory multifocal febrile status epilepticus|Norse ICD10:G41.8|GARD:0012244|Orphanet:363558 owl:Class MONDO:0003837 biolink:NamedThing TSH producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. tmpak2llvmy_mondo_relaxed.owl TSH secreting tumor of the pituitary gland|thyroid stimulating hormone secreting pituitary tumor|TSH secreting pituitary gland tumor|TSH secreting pituitary gland neoplasm|TSH producing neoplasm of pituitary|thyroid stimulating hormone producing tumor of the pituitary|TSH-producing pituitary gland tumor|TSH secreting tumor of the pituitary|TSH producing tumor of pituitary|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting tumor of the pituitary|TSH producing neoplasm of the pituitary gland|TSH secreting pituitary neoplasm|TSH-producing pituitary gland neoplasm|thyroid stimulating hormone producing neoplasm of the pituitary|TSH secreting tumor of pituitary|thyroid stimulating hormone secreting tumor of pituitary gland|thyroid stimulating hormone producing pituitary neoplasm|thyroid stimulating hormone secreting pituitary gland neoplasm|thyroid stimulating hormone producing pituitary gland neoplasm|TSH-oma|TSH producing pituitary gland neoplasm|thyroid stimulating hormone secreting pituitary neoplasm|TSH secreting neoplasm of pituitary gland|TSH producing tumor of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary gland|thyroid stimulating hormone secreting pituitary gland tumor|TSH producing neoplasm of the pituitary|TSH producing pituitary tumor|thyrotroph adenoma|thyroid stimulating hormone producing tumor of the pituitary gland|thyrotropin producing pituitary gland neoplasm|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone secreting tumor of pituitary|TSH secreting neoplasm of pituitary|TSH producing neoplasm of pituitary gland|TSH secreting pituitary tumor|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone producing neoplasm of pituitary|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing tumour|thyroid stimulating hormone producing tumor of pituitary gland|thyroid stimulating hormone secreting neoplasm of pituitary|TSH secreting neoplasm of the pituitary|TSH producing tumor of pituitary gland|thyrotropin-secreting pituitary adenoma|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone secreting tumor of the pituitary gland|thyroid stimulating hormone secreting neoplasm of pituitary gland|thyroid stimulating hormone secreting neoplasm of the pituitary|TSH producing tumor of the pituitary gland|thyroid stimulating hormone producing pituitary gland tumor|TSH secreting tumor of pituitary gland|thyroid stimulating hormone producing tumor of pituitary|TSH secreting neoplasm of the pituitary gland|TSH producing pituitary gland tumor UMLS:C2362538|SCTID:254959007|NCIT:C7915|DOID:6275 owl:Class MONDO:0010014 biolink:NamedThing craniometadiaphyseal dysplasia, wormian bone type Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. tmpak2llvmy_mondo_relaxed.owl Schwartz-Lelek syndrome|CRMDD|CRANIOMETADIAPHYSEAL dysplasia OMIM:269300|ICD10:Q78.8|SCTID:278833002|Orphanet:85184 OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. owl:Class MONDO:0013686 biolink:NamedThing distal myopathy, Tateyama type Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. tmpak2llvmy_mondo_relaxed.owl MPDT|myopathy, distal, Tateyama type Orphanet:488650|DOID:0111191|OMIM:614321|SCTID:711265009|UMLS:C3280443 owl:Class MONDO:0003827 biolink:NamedThing transient hypogammaglobulinemia A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. tmpak2llvmy_mondo_relaxed.owl NCIT:C27319|DOID:625|UMLS:C0859960 owl:Class MONDO:0017626 biolink:NamedThing familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. tmpak2llvmy_mondo_relaxed.owl Orphanet:306522|UMLS:CN227164|ICD10:E83.4 owl:Class MONDO:0015035 biolink:NamedThing lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|UMLS:C4274993|UMLS:CN228901|SCTID:715819005|Orphanet:100012 owl:Class GO:0044782 biolink:NamedThing cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpak2llvmy_mondo_relaxed.owl microtubule-based flagellum organization owl:Class MONDO:0012232 biolink:NamedThing stuttering, familial persistent, 2 tmpak2llvmy_mondo_relaxed.owl STUT2|stuttering, familial persistent, 2 MESH:C563756|OMIM:609261|UMLS:C1836484 owl:Class MONDO:0007757 biolink:NamedThing hyperkeratosis-hyperpigmentation syndrome Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl hyperkeratosis-hyperpigmentation syndrome OMIM:144190|Orphanet:1336|ICD10:Q82.8|UMLS:C1840428|MESH:C564172 owl:Class UBERON:0001534 biolink:NamedThing right subclavian artery The subclavian artery that supplies the right pectoral appendage tmpak2llvmy_mondo_relaxed.owl arteria subclavia dextra owl:Class MONDO:0100020 biolink:NamedThing atypical childhood epilepsy with centrotemporal spikes A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit. tmpak2llvmy_mondo_relaxed.owl atypical benign partial epilepsy of childhood|atonic-benign childhood epilepsy with centrotemporal spikes|pseudo-Lennox syndrome 2018-06-22 22:43:29+00:00 owl:Class MONDO:0001389 biolink:NamedThing congenital coronary artery anomaly tmpak2llvmy_mondo_relaxed.owl coronary artery abnormality [ambiguous]|coronary artery anomaly, congenital|coronary artery anomaly|coronary artery abnormality|congenital anomaly of coronary artery SCTID:28574005|DOID:11843|ICD9:746.85 owl:Class MONDO:0001536 biolink:NamedThing vaginal leiomyoma A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl vaginal leiomyoma|leiomyoma of vagina|leiomyoma of the vagina|vagina leiomyoma UMLS:C1336939|DOID:125|NCIT:C6373 owl:Class GO:1903109 biolink:NamedThing positive regulation of mitochondrial transcription Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion. tmpak2llvmy_mondo_relaxed.owl upregulation of transcription from mitochondrial promoter|up regulation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|positive regulation of transcription from mitochondrial promoter|up regulation of mitochondrial transcription|positive regulation of mitochondrial transcription|activation of mitochondrial transcription|up-regulation of transcription from mitochondrial promoter|upregulation of mitochondrial transcription|activation of transcription from mitochondrial promoter owl:Class HGNC:5248 biolink:NamedThing HSPB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002569 biolink:NamedThing gastric dilatation Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. tmpak2llvmy_mondo_relaxed.owl stomach dilatation UMLS:C0038353|DOID:3229|MESH:D013271 owl:Class ENVO:01001790 biolink:NamedThing terrestrial ecosystem tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005900 biolink:NamedThing parotitis Inflammation of the parotid glands. tmpak2llvmy_mondo_relaxed.owl inflammation of parotid gland|parotid gland inflammation UMLS:C0030583|ICD10:K11.2|NCIT:C114281|SCTID:14756005|EFO:0007423|DOID:10301|MESH:D010309 owl:Class UBERON:0008716 biolink:NamedThing hilum of kidney An opening on medial margin of the kidney leading into the renal sinus. he renal vessels enter/leave the kidney at the hilum; the renal pelvis leaves the kidney at the hilum. tmpak2llvmy_mondo_relaxed.owl hilar area of the kidney|renal hilum owl:Class UBERON:0004885 biolink:NamedThing hilum An anatomical cavity, depression or pit where structures are attached. tmpak2llvmy_mondo_relaxed.owl hilus owl:Class NCBITaxon:92251 biolink:NamedThing Trombiculidae tmpak2llvmy_mondo_relaxed.owl chiggers|redbugs|harvest mites GC_ID:1 ncbi_taxonomy owl:Class UBERON:0036266 biolink:NamedThing pars interarticularis of vertebra The part of vertebra located between the inferior and superior articular processes of the facet joint. tmpak2llvmy_mondo_relaxed.owl pars interarticularis owl:Class MONDO:0008772 biolink:NamedThing amelogenesis imperfecta type 2A1 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, pigmented hypomaturation type, 1|amelogenesis imperfecta pigmented hypomaturation type 1|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta pigmented hypomaturation type|amelogenesis imperfecta caused by mutation in KLK4|AI2A1|amelogenesis imperfecta type IIA1|KLK4 amelogenesis imperfecta ICD10:K00.5|OMIM:204700|GARD:0009495|MESH:C567146|DOID:0110057|MESH:C538242 https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type owl:Class CL:1000361 biolink:NamedThing transitional myocyte of interatrial septum A transitional myocyte that is part of the interatrial septum. tmpak2llvmy_mondo_relaxed.owl FMA:263152 cell owl:Class HGNC:10909 biolink:NamedThing SLC40A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100100 biolink:NamedThing SELENON-related myopathy Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. tmpak2llvmy_mondo_relaxed.owl SELENON-related myopathy|SEPN1-related myopathy http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:1633 biolink:NamedThing CD19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012217 biolink:NamedThing Bruck syndrome 2 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. tmpak2llvmy_mondo_relaxed.owl Bruck syndrome caused by mutation in PLOD2|BRKS2|osteogenesis imperfecta with congenital Joint contractures|Bruck syndrome 2|Bruck syndrome type 2|PLOD2 Bruck syndrome GARD:0010023|UMLS:C1836602|OMIM:609220 owl:Class MONDO:0017195 biolink:NamedThing Bruck syndrome Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures ICD10:M21.8|MedDRA:10063718|UMLS:C0432253|SCTID:254113006|ICD9:733.99|DOID:0060231|Orphanet:2771 owl:Class MONDO:0100132 biolink:NamedThing intrahepatic bile duct adenosquamous carcinoma An adenosquamous carcinoma that arises from the intrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007906 biolink:NamedThing familial partial lipodystrophy, Dunnigan type Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. tmpak2llvmy_mondo_relaxed.owl FPLD2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and Lower trunk|lipodystrophy, reverse partial|reverse partial lipodystrophy|familial lipodystrophy of limbs and lower trunk|familial partial lipodystrophy Dunnigan type|FPL2|lipodystrophy, familial partial, Dunnigan type|lipodystrophy, familial partial, type 2|Dunnigan syndrome GARD:3126|Orphanet:2348|OMIM:151660|ICD10:E88.1|SCTID:715439000|GARD:0003126|DOID:0070202 owl:Class MONDO:0019651 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation tmpak2llvmy_mondo_relaxed.owl Orphanet:93209|ICD10:N04.3|UMLS:CN206523 owl:Class HGNC:28510 biolink:NamedThing GLIS3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000221 biolink:NamedThing ectodermal cell A cell of the outer of the three germ layers of the embryo. tmpak2llvmy_mondo_relaxed.owl ectoderm cell FMA:72549 cell owl:Class CL:0002321 biolink:NamedThing embryonic cell (metazoa) A cell of the embryo. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0263|WBbt:0007028|FMA:82841|FMA:82840 tmeehan 2010-09-15T03:39:21Z cell owl:Class GO:0044255 biolink:NamedThing cellular lipid metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular lipid metabolism owl:Class GO:0120190 biolink:NamedThing negative regulation of bile acid secretion Any process that stops, prevents or reduces the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012905 biolink:NamedThing hypomyelinating leukodystrophy 6 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating, 6|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|HLD6|leukodystrophy, hypomyelinating, type 6|hypomyelination with atrophy of basal ganglia and cerebellum|HABC|H-ABC|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|hypomyelinating leukodystrophy type 6 ICD10:E75.2|Orphanet:139441|GARD:0010917|OMIM:612438|DOID:0060798|MESH:C567314|UMLS:C2676244 owl:Class ENVO:01000676 biolink:NamedThing contaminated air Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002916 biolink:NamedThing brainstem intraparenchymal clear cell meningioma A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. tmpak2llvmy_mondo_relaxed.owl intraparenchymal clear cell meningioma of brainstem|brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of the brainstem DOID:4209|UMLS:C1332612|NCIT:C5295 owl:Class MONDO:0002918 biolink:NamedThing clear cell meningioma A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. tmpak2llvmy_mondo_relaxed.owl clear cell meningioma (morphologic abnormality)|clear cell meningioma|CCM UMLS:C0431121|EFO:1000180|DOID:4210|ICDO:9538/1|NCIT:C4722|ONCOTREE:CCM owl:Class HGNC:24539 biolink:NamedThing NECAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:37134 biolink:NamedThing elemental barium tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:37133 biolink:NamedThing barium molecular entity tmpak2llvmy_mondo_relaxed.owl barium molecular entity|barium molecular entities|barium compounds owl:Class HP:0000168 biolink:NamedThing Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). tmpak2llvmy_mondo_relaxed.owl Abnormality of the gums|Gingival abnormality UMLS:C4021816 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. human_phenotype owl:Class HGNC:3374 biolink:NamedThing EPAS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009960 biolink:NamedThing inflammatory bowel disease 1 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. tmpak2llvmy_mondo_relaxed.owl Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease 1|ulcerative colitis, pediatric|pediatric ulcerative colitis|inflammatory bowel disease type 1|IBD1|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease caused by mutation in NOD2|ulcerative colitis|Crohn disease|regional enteritis|NOD2 inflammatory bowel disease OMIM:266600|DOID:0110892|SCTID:34000006|GARD:0009857|ICD9:555.9 owl:Class HGNC:626 biolink:NamedThing APRT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021490 biolink:NamedThing benign neoplasm of sebaceous gland A benign neoplasm that involves the sebaceous gland. tmpak2llvmy_mondo_relaxed.owl benign sebaceous gland neoplasm|benign sebaceous skin tumor|benign sebaceous tumor|benign tumor of the sebaceous gland|benign sebaceous neoplasm|benign sebaceous skin neoplasm|benign sebaceous gland tumor|benign neoplasm of the sebaceous gland|benign tumor of sebaceous gland|sebaceous gland benign neoplasm NCIT:C8525|SCTID:92337009|UMLS:C0684358 owl:Class OBO:CHR_9606-chr3q27 biolink:NamedThing chr3q27 (Human) tmpak2llvmy_mondo_relaxed.owl 188200000 183000000 hg38 owl:Class MONDO:0020408 biolink:NamedThing complete atrioventricular canal-tetralogy of fallot syndrome tmpak2llvmy_mondo_relaxed.owl CAVC type C|CAVC-Fallot tetralogy syndrome|complete atrioventricular canal type C Orphanet:99068|ICD10:Q21.2|UMLS:CN207280 owl:Class NCBITaxon:644710 biolink:NamedThing Anisakis simplex complex tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6268 biolink:NamedThing Anisakis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008950 biolink:NamedThing cerebral sclerosis similar to Pelizaeus-Merzbacher disease tmpak2llvmy_mondo_relaxed.owl cerebral sclerosis similar to Pelizaeus-Merzbacher disease MESH:C536318|OMIM:213900|GARD:0007348 https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease owl:Class MONDO:0007268 biolink:NamedThing hypertrophic cardiomyopathy 4 An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 4|familial hypertrophic cardiomyopathy type 4|MYBPC3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 4|CMH4|hypertrophic cardiomyopathy type 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3|cardiomyopathy, familial hypertrophic, 4, susceptibility to|hypertrophic cardiomyopathy 4 NCIT:C133725|UMLS:C1861862|OMIM:115197|DOID:0110310|MESH:C566169 owl:Class MONDO:0003948 biolink:NamedThing cerebral hemangioma A hemangioma arising from the cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl angioma of cerebrum|cerebral angioma|angioma of cerebral hemispheres|hemangioma of the cerebral hemispheres|hemangioma of cerebral hemispheres|angioma of the cerebrum|hemangioma of cerebrum|cerebral hemangioma|hemangioma of the cerebrum|angioma of the cerebral hemispheres|telencephalon hemangioma|cerebral hemispheric angioma|hemangioma of telencephalon|cerebral hemispheric hemangioma UMLS:C0877388|NCIT:C5433|DOID:6621 owl:Class NCBITaxon:6334 biolink:NamedThing Trichinella spiralis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006419 biolink:NamedThing small intestinal intraepithelial neoplasia A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion. tmpak2llvmy_mondo_relaxed.owl small intestinal dysplasia|small intestinal intraepithelial neoplasia UMLS:C1335999|NCIT:C27462|EFO:1000536 owl:Class HP:0005656 biolink:NamedThing Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025161 human_phenotype owl:Class HP:0001760 biolink:NamedThing Abnormal foot morphology An abnormality of the skeleton of foot. tmpak2llvmy_mondo_relaxed.owl Foot deformities|Foot deformity|Abnormality of the feet|Abnormality of the foot|Abnormal feet structure SNOMEDCT_US:229844004|MSH:D005530|UMLS:C0016506 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0010611|HP:0010216 human_phenotype owl:Class CHEBI:26373 biolink:NamedThing pteridines tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001110 biolink:NamedThing chronic pyelonephritis Persistent pyelonephritis. tmpak2llvmy_mondo_relaxed.owl pyelonephritis, chronic ICD10:N11.9|DOID:1076|ICD9:590.0|NCIT:C123216|ICD10:N11|SCTID:63302006|UMLS:C0085697 owl:Class MONDO:0006939 biolink:NamedThing pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. tmpak2llvmy_mondo_relaxed.owl kidney infection|pyometrium ICD10:N10-N16|DOID:11400|SCTID:45816000|MESH:D011704|EFO:1001141|GARD:0012020|UMLS:C0034186|ICD10:N12|ICD10:N16|ICD9:590.80|NCIT:C34965|MedDRA:10037596 owl:Class MONDO:0000866 biolink:NamedThing myoglobinuria tmpak2llvmy_mondo_relaxed.owl myoglobinurias ICD10:R82.1|DOID:0080108|HP:0002913|MESH:D009212|NCIT:C114705 TODO: cede to HPO owl:Class NCBITaxon:7496 biolink:NamedThing Pterygota tmpak2llvmy_mondo_relaxed.owl winged insects|Pterygota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018104 biolink:NamedThing Torg-Winchester syndrome tmpak2llvmy_mondo_relaxed.owl Winchester syndrome 2022-02-01 Orphanet:3460|ICD10:M89.5 Reason: out of scope. Term to consider: MONDO:0010201. MONDO:0010201 owl:Class GO:0002714 biolink:NamedThing positive regulation of B cell mediated immunity Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl positive regulation of B-cell mediated immunity|upregulation of B cell mediated immunity|stimulation of B cell mediated immunity|activation of B cell mediated immunity|positive regulation of B-lymphocyte mediated immunity|positive regulation of B lymphocyte mediated immunity|up-regulation of B cell mediated immunity|up regulation of B cell mediated immunity owl:Class MONDO:0003548 biolink:NamedThing adenosquamous breast carcinoma An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. tmpak2llvmy_mondo_relaxed.owl breast adenosquamous carcinoma|metaplastic adenosquamous carcinoma|adenosquamous breast carcinoma NCIT:C40361|DOID:5623|UMLS:C1510796|ONCOTREE:MASC Editor note: check ONCOTREE mapping owl:Class MONDO:0010501 biolink:NamedThing syndromic X-linked intellectual disability 34 Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. tmpak2llvmy_mondo_relaxed.owl macrocephaly-intellectual disability-left ventricular non compaction syndrome|syndromic X-linked mental retardation Mircsof-Langouet type|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|X-linked syndromic intellectual disability caused by mutation in NONO|mental retardation, X-linked, syndromic 34|intellectual disability, X-linked, syndromic type 34|mental retardation, X-linked, syndromic type 34|NONO X-linked syndromic intellectual disability|MRXSML|MRXS34|intellectual disability, X-linked, syndromic 34|syndromic X-linked intellectual disability Mircsof-Langouet type|mental retardation, X-linked, syndromic, Mircsof-Langouet type|syndromic X-linked intellectual disability type 34 DOID:0060817|OMIM:300967|Orphanet:466791 owl:Class MONDO:0016797 biolink:NamedThing multiple mitochondrial DNA deletion syndrome tmpak2llvmy_mondo_relaxed.owl multiple mtDNA deletion syndrome UMLS:CN202053|Orphanet:254807 owl:Class MONDO:0022454 biolink:NamedThing angiosarcoma of the scalp Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy. tmpak2llvmy_mondo_relaxed.owl scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp GARD:0005814 https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp owl:Class MONDO:0044208 biolink:NamedThing specific granule deficiency 2 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). tmpak2llvmy_mondo_relaxed.owl SGD2|specific granule deficiency 2 UMLS:C4479548|OMIM:617475 owl:Class MONDO:0001262 biolink:NamedThing African histoplasmosis An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. tmpak2llvmy_mondo_relaxed.owl Histoplasma capsulatum var. duboisii disease or disorder|Histoplasma duboisii infection|Histoplasma capsulatum var. duboisii infectious disease|infection by Histoplasma duboisii|African histoplasmosis|large form histoplasmosis|Histoplasma capsulatum var. duboisii caused disease or disorder SCTID:78511005|UMLS:C0220977|ICD9:115.10|DOID:11315 owl:Class MONDO:0010041 biolink:NamedThing Charlevoix-Saguenay spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl ARSACS|autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|spastic ataxia, Charlevoix-Saguenay type|SPAX6|spastic ataxia Charlevoix-Saguenay type|sacs|spastic ataxia of Charlevoix-Saguenay|autosomal recessive spastic ataxia type 6|spastic ataxia 6, autosomal recessive GARD:0004910|MESH:C536787|Orphanet:98|SCTID:702445005|UMLS:C1849140|ICD10:G11.1|DOID:0050946|OMIM:270550 owl:Class MONDO:0004812 biolink:NamedThing acute dacryoadenitis Acute form of dacryoadenitis. tmpak2llvmy_mondo_relaxed.owl dacryoadenitis, acute DOID:952|SCTID:2589008|UMLS:C0149505|ICD10:H04.01|ICD9:375.01 owl:Class HGNC:30760 biolink:NamedThing TMEM165 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021605 biolink:NamedThing benign eyelid neoplasm A non-metastasizing neoplasm that arises from the upper or lower eyelid. tmpak2llvmy_mondo_relaxed.owl benign tumor of the eyelid|benign tumor of eyelid|benign eyelid tumor|benign eyelid neoplasm|benign neoplasm of the eyelid|benign neoplasm of eyelid|eyelid benign neoplasm NCIT:C4354|UMLS:C0339107|SCTID:231824001 owl:Class CHEBI:33250 biolink:NamedThing atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. tmpak2llvmy_mondo_relaxed.owl atome|atoms|atomo|atom|elements|element|atomus owl:Class MONDO:0001309 biolink:NamedThing oculomotor nerve paralysis Paralysis of the oculomotor nerve. tmpak2llvmy_mondo_relaxed.owl oculomotor nerve cranial nerve palsy|cranial nerve palsy of oculomotor nerve|oculomotor palsy|III nerve palsy|oculomotor nerve paralysis|IIIrd nerve paralysis|third cranial nerve paralysis SCTID:388980004|DOID:11550|ICD10:H49.0|UMLS:C0028866|NCIT:C27597|Orphanet:98685 owl:Class HP:0100806 biolink:NamedThing Sepsis Systemic inflammatory response to infection. tmpak2llvmy_mondo_relaxed.owl Infection in blood stream UMLS:C0036690|MSH:D018805 doelkens 2011-06-09T01:05:51Z human_phenotype owl:Class HP:0010978 biolink:NamedThing Abnormality of immune system physiology A functional abnormality of the immune system. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023616 peter 2011-02-07T04:28:55Z human_phenotype owl:Class HP:0001962 biolink:NamedThing Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. tmpak2llvmy_mondo_relaxed.owl Missed heart beat|Palpitations|Heart palpitations|Skipped heart beat UMLS:C0030252|SNOMEDCT_US:80313002 HP:0001676 human_phenotype owl:Class GO:0010033 biolink:NamedThing response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpak2llvmy_mondo_relaxed.owl process resulting in tolerance to organic substance owl:Class MONDO:0011061 biolink:NamedThing chorea, remitting, with nystagmus and cataract tmpak2llvmy_mondo_relaxed.owl chorea, remitting, with nystagmus and cataract|familial remitting chorea, nystagmus and cataracts|chorea, remitting with nystagmus and cataracts MESH:C535355|OMIM:601372|GARD:0009606|UMLS:C1832422 owl:Class MONDO:0021367 biolink:NamedThing leukemia, myeloid, accelerated-phase The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis. tmpak2llvmy_mondo_relaxed.owl Accelerated Phase Chronic Myeloid Leukemia|Leukemia, Myeloid, Aggressive-Phase|Accelerated Phase Chronic Myelogenous Leukemia|Aggressive-Phase Chronic Myelogenous Leukemia|Leukemia, Myeloid, Accelerated Phase|Leukemia, Myelogenous, Aggressive-Phase|CML AGGRESSIVE|Accelerated Phase Chronic Granulocytic Leukemia|Accelerated Phase Chronic Myelocytic Leukemia|Leukemia, Myelogenous, Aggressive Phase|Myelogenous Leukemia, Chronic, Aggressive-Phase|Aggressive-Phase Chronic Myeloid Leukemia|Aggressive-Phase Chronic Myelocytic Leukemia|Myeloid Leukemia, Chronic, Aggressive-Phase|Aggressive-Phase CML|Myeloid Leukemia, Chronic, Accelerated-Phase|Leukemia, Myeloid, Accelerated-Phase|Accelerated Phase CML|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Myeloid Leukemia, Chronic, Accelerated Phase|CML ACCELERATED|Myeloid Leukemia, Chronic, Aggressive Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Accelerated phase chronic myeloid leukemia EFO:1001755|UMLS:C0023472|MESH:D015465 owl:Class HGNC:7632 biolink:NamedThing NAGLU tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013800 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. tmpak2llvmy_mondo_relaxed.owl EDSKMH|EDS with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|EDS, kyphoscoliotic and hearing loss type|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|Ehlers-Danlos syndrome, kyphoscoliotic and deafness type|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|EDSKSCL2 SCTID:720859009|ICD10:Q79.6|Orphanet:300179|UMLS:C3281160|OMIM:614557 owl:Class GO:0031669 biolink:NamedThing cellular response to nutrient levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032942 biolink:NamedThing neurodevelopmental disorder with microcephaly and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl NEDMIDF|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES OMIM:618828 owl:Class MONDO:0002972 biolink:NamedThing posterior mediastinum cancer A malignant neoplasm involving the posterior mediastinum. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of posterior mediastinum|cancer of posterior mediastinum|posterior mediastinum cancer|malignant posterior mediastinum neoplasm ICD10:C38.2|ICD9:164.3|SCTID:448670003|DOID:436|UMLS:C0153502 owl:Class MONDO:0009675 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. tmpak2llvmy_mondo_relaxed.owl limb-girdle muscular dystrophy type 2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|autosomal recessive limb-girdle muscular dystrophy type 2A|Leyden-Moebius muscular dystrophy|muscular dystrophy, limb-girdle, type 2|muscular dystrophy limb girdle type 2A, erb type|calpainopathy|limb-girdle muscular dystrophy due to calpain deficiency|myositis, eosinophilic|LGMD2|muscular dystrophy, Pelvofemoral|limb-girdle muscular dystrophy type 2A|pelvofemoral muscular dystrophy|primary calpainopathy|LGMD2A|muscular dystrophy, limb-girdle, type 2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy GARD:0003845|OMIM:253600|MESH:C535895|ICD10:G71.0|SCTID:715341003|GARD:0001057|DOID:0110275|Orphanet:267|NCIT:C142079 owl:Class MONDO:0003410 biolink:NamedThing Wolffian duct adenocarcinoma A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. tmpak2llvmy_mondo_relaxed.owl Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma|mesonephric duct adenocarcinoma NCIT:C40254|DOID:5368|UMLS:C1516419 owl:Class MONDO:0018303 biolink:NamedThing generalized isolated dystonia tmpak2llvmy_mondo_relaxed.owl Orphanet:376724|ICD10:G24.1 Editor note: consider merging with generalized dystonia if no complex forms owl:Class MONDO:0000476 biolink:NamedThing generalized dystonia tmpak2llvmy_mondo_relaxed.owl Progressive torsion spasm|dystonia deformans progressiva|torsion spasm, Progressive|idiopathic non-familial dystonia|symptomatic torsion dystonia|torsion disease of childhood|torsion dystonia|torsion disease, childhood|spasm, Progressive torsion|Idiopathic torsion dystonia|torsion dystonia, Idiopathic|Oppenheim Ziehen disease|dystonias, Idiopathic torsion|dystonia, Idiopathic torsion|idiopathic torsion dystonia|familial dystonia|dystonia deformans musculorum|Oppenheim-Ziehen disease|childhood torsion disease|dystonia 12|fragments of torsion dystonia|Idiopathic torsion dystonias|idiopathic familial dystonia|dystonias, torsion|dystonia musculorum deformans ICD9:333.6|MESH:D004422|DOID:0050835|ICD9:333.89|ICD10:G24.2|ICD9:333.8|ICD10:G24.1|SCTID:425492002 Editor note: TODO owl:Class UBERON:0009856 biolink:NamedThing sac tmpak2llvmy_mondo_relaxed.owl pouch|diverticulum owl:Class GO:0042364 biolink:NamedThing water-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in water. tmpak2llvmy_mondo_relaxed.owl water-soluble vitamin biosynthesis|water-soluble vitamin anabolism|water-soluble vitamin formation|water-soluble vitamin synthesis owl:Class GO:0014063 biolink:NamedThing negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. tmpak2llvmy_mondo_relaxed.owl positive regulation of serotonin release|down regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion|down-regulation of serotonin secretion owl:Class MONDO:0010181 biolink:NamedThing oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, oculogastrointestinal|visceral myopathy-familial external ophthalmoplegia syndrome|familial visceral myopathy with external ophthalmoplegia|intestinal pseudoobstruction with external ophthalmoplegia|visceral myopathy - familial external ophthalmoplegia|visceral myopathy, familial, with external ophthalmoplegia GARD:0005496|OMIM:277320|Orphanet:1876|SCTID:722060007|ICD10:G71.0 owl:Class HGNC:11427 biolink:NamedThing STUB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2689 biolink:NamedThing DBH tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0009031 biolink:NamedThing T cell of appendix A T cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl T cell of appendix vermiformis|appendix T cell|T cell of vermiform appendix owl:Class UBERON:0010848 biolink:NamedThing radius-ulna cartilage element A radius-ulna endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl radio-ulna cartilage condensation owl:Class MONDO:0012216 biolink:NamedThing foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome tmpak2llvmy_mondo_relaxed.owl FHONDA syndrome|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|FVH2|foveal hypoplasia 2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome|foveal hypoplasia type 2 Orphanet:397618|OMIM:609218|ICD10:Q15.8|MESH:C563774 owl:Class UBERON:0006061 biolink:NamedThing process of vertebra A process projection from a part of the vertebra such as centrum or arches. Examples: transverse process, diapophyses, parapophyses, and zygapophyses (both the cranial zygapophyses and the caudal zygapophyses). tmpak2llvmy_mondo_relaxed.owl vertebra process|spinous process|vertebral process owl:Class GO:0015669 biolink:NamedThing gas transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032858 biolink:NamedThing developmental and epileptic encephalopathy, 81 tmpak2llvmy_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81|EIEE81|DEE81|epileptic encephalopathy, early infantile, 81 OMIM:618663 owl:Class HGNC:25151 biolink:NamedThing ADAT3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:12967 biolink:NamedThing Blastocystis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:19191 biolink:NamedThing DOCK8 tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:8000003 biolink:NamedThing main release ontology module An ontology module that is intended to be the primary release product and the one consumed by the majority of tools. tmpak2llvmy_mondo_relaxed.owl TODO: Add logical axioms that state that a main release ontology module is derived from (directly or indirectly) an editors module main release ontology module owl:Class MONDO:0021474 biolink:NamedThing benign neoplasm of ear A benign neoplasm that involves the ear. tmpak2llvmy_mondo_relaxed.owl ear benign neoplasm|aural neoplasms, benign|benign neoplasm of the Ear|benign Ear neoplasm|benign Ear tumor|benign tumor of the Ear|benign tumor of Ear SCTID:255181009|NCIT:C8417|UMLS:C0347354 owl:Class MONDO:0022893 biolink:NamedThing craniosynostosis arthrogryposis cleft palate tmpak2llvmy_mondo_relaxed.owl GARD:0001587 https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate owl:Class CHEBI:84735 biolink:NamedThing algal metabolite Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. tmpak2llvmy_mondo_relaxed.owl algal metabolites owl:Class CHEBI:75763 biolink:NamedThing eukaryotic metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. tmpak2llvmy_mondo_relaxed.owl eukaryotic metabolites owl:Class MONDO:0024537 biolink:NamedThing Brown-Vialetto-van Laere syndrome 1 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene. tmpak2llvmy_mondo_relaxed.owl SLC52A3 Brown-Vialetto-van Laere syndrome|bulbar palsy, progressive, with sensorineural deafness|Brown-Vialetto-Van Laere syndrome 1|Brown-Vialetto-van Laere syndrome 1|pontobulbar palsy with deafness|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3|BVVLS1 UMLS:CN029849|NCIT:C133724|OMIM:211530 owl:Class MONDO:0007311 biolink:NamedThing Charcot-Marie-Tooth disease type 1E A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease-deafness|Charcot-Marie-Tooth disease-deafness syndrome|Charcot Marie Tooth disease type 1E|CMT 1E|Charcot-Marie-Tooth disease, demyelinating, type 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease and deafness|Charcot-Marie-Tooth disease demyelinating type 1E|CMT1E ICD10:G60.0|UMLS:C2931686|DOID:0110153|Orphanet:90658|OMIM:118300|MESH:C537986|GARD:0009190 owl:Class MONDO:0015051 biolink:NamedThing tubular duplication of the esophagus Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. tmpak2llvmy_mondo_relaxed.owl ICD10:Q39.8|Orphanet:100048 owl:Class MONDO:0019619 biolink:NamedThing duplication of the esophagus tmpak2llvmy_mondo_relaxed.owl ICD10:Q39.8|Orphanet:91357 owl:Class GO:0045739 biolink:NamedThing positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair. tmpak2llvmy_mondo_relaxed.owl activation of DNA repair|up regulation of DNA repair|upregulation of DNA repair|stimulation of DNA repair|up-regulation of DNA repair owl:Class MONDO:0004030 biolink:NamedThing ureter transitional cell carcinoma A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. tmpak2llvmy_mondo_relaxed.owl urothelial cell carcinoma of ureter|ureter urothelial cancer|ureteral transitional cell carcinoma|transitional cell carcinoma of the ureter|ureter transitional cell carcinoma|ureteral urothelial cell carcinoma|transitional cell carcinoma of ureter|ureter urothelial carcinoma|urothelial cell carcinoma of the ureter NCIT:C4830|UMLS:C0577692|SCTID:300988009|EFO:1001973|DOID:6888 owl:Class MONDO:0014071 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|MDDGA11 OMIM:615181|DOID:0111230|UMLS:C3554638 owl:Class MONDO:0011493 biolink:NamedThing Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). tmpak2llvmy_mondo_relaxed.owl STL2|Stickler syndrome, type 2|STL 2|Stickler syndrome, beaded vitreous type|Stickler syndrome caused by mutation in COL11A1|COL11A1 Stickler syndrome|Stickler syndrome, vitreous type 2|STICKLER syndrome, type II|Stickler syndrome type II GARD:0005020|UMLS:C1858084|OMIM:604841|Orphanet:90654|ICD10:Q87.5|MESH:C537493|NCIT:C74985 https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 owl:Class MONDO:0008296 biolink:NamedThing familial porphyria cutanea tarda An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl porphyria cutanea tarda type II|PCT|Urod deficiency|porphyria, hepatoerythropoietic|hereditary porphyria cutanea tarda|PCT, 'familial' type|PCT, type 2|porphyria cutanea tarda|uroporphyrinogen decarboxylase deficiency|porphyria, Hepatocutaneous type|porphyria cutanea tarda, type 2 UMLS:C0268323|ICD10:E80.1|Orphanet:443062|OMIM:176100|SCTID:59229005 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class MONDO:0015104 biolink:NamedThing porphyria cutanea tarda Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. tmpak2llvmy_mondo_relaxed.owl PCT|porphyria cutania tarda ICD10:E80.1|MESH:D017119|GARD:0007433|Orphanet:101330|MedDRA:10036183|UMLS:C0162566|DOID:3132|SCTID:61860000|NCIT:C27725|ONCOTREE:PCT Editor notes: ORDO classifies as inherited but in fact many forms are inherited owl:Class GO:0140375 biolink:NamedThing immune receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008228 biolink:NamedThing pernicious anemia Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. tmpak2llvmy_mondo_relaxed.owl Addison anaemia|pernicious anemia|anemia pernicious|Biermer's anemia|intrinsic factor deficiency|Addison's anaemia ICD10:D51.0|OMIM:170900|SCTID:84027009|DOID:13381|UMLS:C0002892|EFO:0005576|MESH:D000752|ICD9:281.0|GARD:0012671|NCIT:C2871 owl:Class MONDO:0017288 biolink:NamedThing DICER1 syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. tmpak2llvmy_mondo_relaxed.owl DICER1-related pleuropulmonary blastoma|PPB familial tumor susceptibility syndrome|DICER1 syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|PPBFTDS|pleuropulmonary blastoma familial tumor susceptibility syndrome UMLS:CN202862|ICD9:199.1|SCTID:702411003|EFO:0009068|UMLS:C3839822|GARD:0010734|NCIT:C123317|UMLS:CN240512|Orphanet:284343 https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome owl:Class MONDO:0001712 biolink:NamedThing alexia A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases. tmpak2llvmy_mondo_relaxed.owl blindness, acquired Word|acquired global dyslexia|acquired reading disability|alexia, acquired|acquired spelling dyslexia|Word blindness, acquired|acquired Word Blindnesses|dyslexia, acquired global|Word Blindnesses, acquired|aphemesthaesia|dyslexia, acquired spelling|acquired reading disabilities|Blindnesses, acquired Word|global dyslexia, acquired|disabilities, acquired reading|acquired dyslexia|reading disability, acquired|acquired alexia|reading disabilities, acquired|acquired Word blindness|disability, acquired reading|spelling dyslexia, acquired ICD9:315.01|DOID:13417|MESH:D004411 owl:Class MONDO:0016045 biolink:NamedThing tetragametic chimerism Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. tmpak2llvmy_mondo_relaxed.owl 46,XX/46,XY chimerism ICD10:Q99.0|UMLS:CN200724|Orphanet:199310 owl:Class SO:0000831 biolink:NamedThing gene_member_region A region of a gene. tmpak2llvmy_mondo_relaxed.owl gene member region owl:Class CHEBI:22492 biolink:NamedThing amino aldehyde Any aldehyde which contains an amino group. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021374 biolink:NamedThing neoplasm of cerebral hemisphere A neoplasm involving a cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl tumor of the cerebral hemispheres|tumor of cerebrum|telencephalon tumor|neoplasm of telencephalon|telencephalon neoplasm (disease)|neoplasm of the cerebral hemispheres|neoplasm of cerebral hemispheres|neoplasm of cerebral hemisphere|tumor of cerebral hemispheres|cerebral neoplasm|cerebral hemispheric neoplasm|cerebral hemispheric tumor|tumor of telencephalon|cerebral tumor|tumor of cerebral hemisphere|neoplasm of cerebrum|cerebral hemisphere neoplasm|tumor of the cerebrum|cerebral neoplasms|neoplasm of the cerebrum|cerebral hemisphere tumor SCTID:126953009|NCIT:C4874 owl:Class MONDO:0005832 biolink:NamedThing lymphangitis Inflammation of the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl inflammation of lymphatic vessel|lymphatic vessel inflammation NCIT:C34790|MESH:D008205|ICD10:I89.1|DOID:9317|UMLS:C0024225|ICD9:457.2|EFO:0007351|SCTID:1415005 owl:Class MONDO:0007618 biolink:NamedThing Eng-Strom syndrome Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl short stature-locking fingers syndrome|finger locking, recurrent, with intrauterine growth retardation and proportionate short stature OMIM:135950|Orphanet:1937|UMLS:C2931545|ICD10:Q87.1 owl:Class HGNC:12766 biolink:NamedThing NSD2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:33699 biolink:NamedThing KHDC3L tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051270 biolink:NamedThing regulation of cellular component movement Any process that modulates the frequency, rate or extent of the movement of a cellular component. tmpak2llvmy_mondo_relaxed.owl regulation of cell movement|regulation of cellular component motion owl:Class GO:0120305 biolink:NamedThing regulation of pigmentation Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017675 biolink:NamedThing punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. tmpak2llvmy_mondo_relaxed.owl punctate keratosis palmoplantaris|punctate PPK|punctate palmoplantar hyperkeratosis UMLS:C4024851|SCTID:402773000|ICD10:Q82.8|Orphanet:307967|DOID:0060361 owl:Class GO:0043068 biolink:NamedThing positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpak2llvmy_mondo_relaxed.owl up regulation of programmed cell death|upregulation of programmed cell death|up-regulation of programmed cell death|activation of programmed cell death|stimulation of programmed cell death|positive regulation of non-apoptotic programmed cell death owl:Class GO:0043067 biolink:NamedThing regulation of programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpak2llvmy_mondo_relaxed.owl regulation of non-apoptotic programmed cell death owl:Class MONDO:0007190 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl leukemia, chronic lymphocytic, B-cell|Clls2|leukemia, chronic lymphocytic, susceptibility to, type 2|leukemia, chronic lymphocytic, susceptibility to, 2|B-cell malignancy, low-grade|disrupted in B-cell malignancy OMIM:109543 owl:Class MONDO:0008470 biolink:NamedThing spondyloepiphyseal dysplasia with punctate corneal dystrophy tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type MESH:C566660|UMLS:C1866727|Orphanet:163673|OMIM:183850 owl:Class MONDO:0041752 biolink:NamedThing paucibacillary leprosy A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. tmpak2llvmy_mondo_relaxed.owl paucibacillary leprosy|tuberculoid leprosy SCTID:416483009 owl:Class GO:0045276 biolink:NamedThing plasma membrane respiratory chain complex III A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. tmpak2llvmy_mondo_relaxed.owl plasma membrane cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex|respiratory chain complex III|plasma membrane coenzyme Q-cytochrome c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|plasma membrane ubiquinol-cytochrome-c reductase complex|plasma membrane coenzyme Q-cytochrome c oxidoreductase complex owl:Class MONDO:0015498 biolink:NamedThing oromandibular-limb anomalies syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:156215|UMLS:CN199634 owl:Class MONDO:0015497 biolink:NamedThing hypoglossia/aglossia tmpak2llvmy_mondo_relaxed.owl Orphanet:156212|ICD10:Q38.3 owl:Class MONDO:0009477 biolink:NamedThing Stromme syndrome Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). tmpak2llvmy_mondo_relaxed.owl Stromme syndrome|apple peel syndrome with microcephaly and ocular anomalies|STROMS|jejunal atresia with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31|ciliary dyskinesia, primary, type 31|primary ciliary dyskinesia 31|CILD31|jejunal atresia-microcephaly-ocular anomalies syndrome|lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|ciliary dyskinesia, primary, 31, formerly OMIM:243605|ICD10:Q87.8|EFO:0009160|MESH:C565460|UMLS:CN237682|Orphanet:444069|OMIM:616369|Orphanet:506307|DOID:0110595 owl:Class MONDO:0007606 biolink:NamedThing fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. tmpak2llvmy_mondo_relaxed.owl Stone Man syndrome|Stone man syndrome|progressive ossifying myositis|fibrodysplasia ossificans progressiva|fop|myositis ossificans progressiva|progressive myositis ossificans MedDRA:10068715|ICD10:M61.10|OMIM:135100|ICD9:728.11|NCIT:C3040|GARD:0006445|SCTID:82725007|ICD10:M61.1|Orphanet:337|DOID:13374|UMLS:C0016037 owl:Class MONDO:0010257 biolink:NamedThing prostate cancer, hereditary, X-linked 1 tmpak2llvmy_mondo_relaxed.owl HPCX1|prostate cancer susceptibility, X-linked|prostate cancer, hereditary, X-linked 1 UMLS:C1846279|OMIM:300147 owl:Class CL:0019001 biolink:NamedThing tracheobronchial serous cell Any serous secreting cell that is part of the tracheobronchial epithelium. tmpak2llvmy_mondo_relaxed.owl serous cell of tracheobronchial tree 2020-05-07 16:03:27+00:00 owl:Class MONDO:0001046 biolink:NamedThing imperforate anus A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. tmpak2llvmy_mondo_relaxed.owl imperforate anus|anal stenosis|anorectal malformations|congenital or infantile occlusion of anus|anus, imperforate|congenital atresia of anus|anal atresia OMIM:207500|OMIM:301800|ICD10:Q42.3|MESH:D001006|NCIT:C84784|DOID:10488|GARD:0006769|SCTID:204731006 owl:Class MONDO:0009416 biolink:NamedThing hypoinsulinemic hypoglycemia and body hemihypertrophy tmpak2llvmy_mondo_relaxed.owl hypoinsulinemic hypoglycemia with hemihypertrophy|HIHGHH OMIM:240900|UMLS:CN203155|Orphanet:293964 owl:Class UBERON:0019221 biolink:NamedThing digit 1 or 5 Either of the outermost digits in a five-digit autopod, or their phylogenetic equivalent. tmpak2llvmy_mondo_relaxed.owl outer digit|lateral digit|outermost digit owl:Class MONDO:0100214 biolink:NamedThing Rajab interstitial lung disease with brain calcifications tmpak2llvmy_mondo_relaxed.owl OMIMPS:613658 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0100886 biolink:NamedThing Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). tmpak2llvmy_mondo_relaxed.owl Abnormality of eyeball position|Abnormality of globe position|Abnormality of eyeball location UMLS:C4021946 doelkens 2011-12-13T04:25:29Z human_phenotype owl:Class MONDO:0006477 biolink:NamedThing undifferentiated ovarian carcinoma An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl undifferentiated ovarian carcinoma|ovarian undifferentiated carcinoma|anaplastic carcinoma of ovary|undifferentiated carcinoma of the ovary|ovary undifferentiated carcinoma|anaplastic carcinoma of the ovary|anaplastic ovarian carcinoma|undifferentiated carcinoma of ovary|undifferentiated ovarian cancer EFO:1000605|NCIT:C4509|SCTID:254856004|UMLS:C0346167 owl:Class MONDO:0016801 biolink:NamedThing mitochondrial substrate carrier disorder tmpak2llvmy_mondo_relaxed.owl UMLS:CN227002|Orphanet:254830 owl:Class HGNC:3354 biolink:NamedThing ENO3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008397 biolink:NamedThing aplasia of lacrimal and salivary glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. tmpak2llvmy_mondo_relaxed.owl ALSG|congenital absence of lacrimal puncta and salivary glands|parotid aplasia or hypoplasia|aplasia of lacrimal and salivary glands|salivary glands, absence of|salivary glands, absence of, include SCTID:715656004|ICD10:Q38.4|OMIM:180920|ICD10:Q10.4|Orphanet:86815|DOID:0111549 owl:Class MONDO:0015240 biolink:NamedThing digitotalar dysmorphism Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. tmpak2llvmy_mondo_relaxed.owl distal arthrogryposis type 1A (sub-type)|AMCD1|distal arthrogryposis type 1B (sub-type)|arthrogryposis multiplex congenita distal type 1|digitotalar dysmorphism|distal arthrogryposis type 1|DA1 Orphanet:1146|GARD:0000787|ICD10:Q68.8|UMLS:CN197602|UMLS:C1852085|UMLS:C0220662 https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1 owl:Class CHEBI:30563 biolink:NamedThing silicon dioxide A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens. tmpak2llvmy_mondo_relaxed.owl Kieselsaeureanhydrid|silicon(IV) oxide|Silica, amorphous|silicic anhydride|Siliziumdioxid|SiO2|(SiO2)n|silica|silicon dioxide|[SiO2] owl:Class MONDO:0014435 biolink:NamedThing Bardet-Biedl syndrome 7 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome type 7|BBS7|BBS7 Bardet-Biedl syndrome|Bardet-Biedl syndrome 7|Bardet-Biedl syndrome caused by mutation in BBS7 ICD10:Q87.89|DOID:0110129|EFO:0009026|OMIM:615984|UMLS:C1859565|MESH:C565916|GARD:0010206 https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 owl:Class MONDO:0005168 biolink:NamedThing neoplasm of immature B and T cells A neoplasm arising from immature B and T cells tmpak2llvmy_mondo_relaxed.owl EFO:0002425 owl:Class MONDO:0034054 biolink:NamedThing severe combined immunodeficiency due to CD70 deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:538958|OMIM:618261 owl:Class PATO:0001759 biolink:NamedThing granular A composition quality inhering in a bearer by virtue of the bearer's containing granules. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060760 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities OMIM:618089 owl:Class MONDO:0020353 biolink:NamedThing von Hippel anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98941|ICD10:Q13.4 owl:Class MONDO:0004984 biolink:NamedThing basal-like breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. tmpak2llvmy_mondo_relaxed.owl basal-like subtype of breast carcinoma|basal-like breast carcinoma|basal-like breast cancer NCIT:C53558|UMLS:C3642347|EFO:0000281 owl:Class MONDO:0005494 biolink:NamedThing triple-negative breast carcinoma An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). tmpak2llvmy_mondo_relaxed.owl triple-negative breast cancer|triple-receptor negative breast cancer|triple-negative breast carcinoma NCIT:C71732|EFO:0005537|UMLS:C3539878|MESH:D064726|DOID:0060081|SCTID:706970001 owl:Class MONDO:0030333 biolink:NamedThing immunodeficiency 84 tmpak2llvmy_mondo_relaxed.owl immunodeficiency 84|IMD84 OMIM:619437 owl:Class UBERON:0013192 biolink:NamedThing ovarian medulla highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles. tmpak2llvmy_mondo_relaxed.owl zona vasculosa of Waldeyer|medulla of ovary|medulla ovarii (zona vasculosa) owl:Class MONDO:0011800 biolink:NamedThing glioma susceptibility 4 tmpak2llvmy_mondo_relaxed.owl glioma susceptibility 4|GLM4 OMIM:607248|UMLS:C2750944 owl:Class MONDO:0041879 biolink:NamedThing staphylococcus aureus pneumonia An pneumonia caused by infection with Staphylococcus aureus. tmpak2llvmy_mondo_relaxed.owl pneumonia due to staphylococcus aureus|pneumonia caused by staphylococcus aureus|Staphylococcus aureus caused pneumonia|staphylococcus aureus pneumonia|Staphylococcus aureus pneumonia SCTID:441658007 owl:Class MONDO:0005983 biolink:NamedThing tinea favosa A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. tmpak2llvmy_mondo_relaxed.owl favus DOID:4336|ICD10:B35|SCTID:85375000|NCIT:C35072|MESH:D014007|UMLS:C0040254|EFO:0007511 owl:Class GO:0040008 biolink:NamedThing regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005608 biolink:NamedThing varicella zoster infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. tmpak2llvmy_mondo_relaxed.owl Varicella-zoster Virus infection|varicella zoster infection UMLS:C0586989|ICD9:052.7|NCIT:C96407|EFO:0006509|SCTID:309465005 owl:Class UBERON:0004983 biolink:NamedThing mucosa of vagina A mucosa that is part of a vagina [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of vagina|organ mucosa of vagina|tunica mucosa vaginae|mucosa of organ of vagina|vagina mucosa|vagina mucosa of organ|vaginal mucosa|vagina mucous membrane|vagina organ mucosa owl:Class MONDO:0013708 biolink:NamedThing intellectual disability, autosomal recessive 25 tmpak2llvmy_mondo_relaxed.owl MRT25|intellectual disability, autosomal recessive 25|mental retardation, autosomal recessive 25 UMLS:C3280544|OMIM:614346 owl:Class MONDO:0000345 biolink:NamedThing Oropouche fever A disease caused by infection with Oropouche virus. tmpak2llvmy_mondo_relaxed.owl Oropouche virus disease or disorder|Oropouche virus caused disease or disorder|Oropouche virus infectious disease MEDGEN:547314|UMLS:C0276386|SCTID:72880002|DOID:0050521 owl:Class MONDO:0013825 biolink:NamedThing congenital diarrhea 6 Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. tmpak2llvmy_mondo_relaxed.owl congenital diarrhea caused by mutation in GUCY2C|chronic diarrhea due to guanylate cyclase 2C overactivity|diarrhea type 6|diarrhea 6|congenital diarrhea type 6|DIAR6|GUCY2C congenital diarrhea UMLS:C3553270|ICD10:P78.3|OMIM:614616|DOID:0060780|Orphanet:314373 owl:Class MONDO:0010520 biolink:NamedThing X-linked Alport syndrome X-linked form of Alport syndrome. tmpak2llvmy_mondo_relaxed.owl Alport syndrome, X-linked|X-linked Alport syndrome|hemorrhagic hereditary nephritis|nephropathy and deafness, X-linked|ATS|congenital hereditary hematuria|hemorrhagic familial nephritis GARD:0005785|ICD10:Q87.8|DOID:0110034|OMIM:301050|MedDRA:10001843|Orphanet:88917|SCTID:717768004 owl:Class MONDO:0008696 biolink:NamedThing acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. tmpak2llvmy_mondo_relaxed.owl familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps|acanthosis nigricans muscle cramps acral enlargement|acanthosis nigricans with muscle cramps and acral enlargement MESH:C536000|UMLS:C1860215|OMIM:200170|GARD:0000453|Orphanet:90301 owl:Class HGNC:6015 biolink:NamedThing IL4R tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006812 biolink:NamedThing cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl di-, tri-valent inorganic cation transport|trivalent inorganic cation transport owl:Class GO:1902105 biolink:NamedThing regulation of leukocyte differentiation Any process that modulates the frequency, rate or extent of leukocyte differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of immune cell differentiation|regulation of leucocyte differentiation owl:Class GO:0031643 biolink:NamedThing positive regulation of myelination Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpak2llvmy_mondo_relaxed.owl upregulation of myelination|stimulation of myelination|up-regulation of myelination|activation of myelination|up regulation of myelination owl:Class MONDO:0008995 biolink:NamedThing Yunis-Varon syndrome Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl YVS|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome|Yunis Varon syndrome|Yunis-Varón syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varon syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia OMIM:216340|UMLS:C1857663|MESH:C536719|ICD10:Q87.8|DOID:0060589|Orphanet:3472|GARD:0000331 https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome owl:Class MONDO:0001067 biolink:NamedThing early yaws Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. tmpak2llvmy_mondo_relaxed.owl frambesia, initial or primary|primary frambesia|initial frambesial ulcer|bone and joint yaws lesion|initial lesions of yaws|bone and joint lesions due to yaws|chancre of yaws ICD10:A66.0|SCTID:23191004|ICD9:102.6|ICD10:A66.6|DOID:10568|NCIT:C41352|ICD9:102.0|ICD9:102.2|UMLS:C0275998 owl:Class MONDO:0019270 biolink:NamedThing erythrokeratoderma tmpak2llvmy_mondo_relaxed.owl SCTID:254215005|MedDRA:10015280|Orphanet:79355|ICD9:757.39 owl:Class MONDO:0009099 biolink:NamedThing nephrogenic diabetes insipidus-intracranial calcification syndrome This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome|diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|Schofer Beetz Bohl syndrome SCTID:716200002|GARD:0000259|OMIM:221995|Orphanet:3145|ICD10:N21.5 https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification owl:Class MONDO:0017619 biolink:NamedThing congenital sucrase-isomaltase deficiency with minimal starch tolerance tmpak2llvmy_mondo_relaxed.owl disaccharide intolerance with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|congenital sucrase-isomaltose malabsorption with minimal starch tolerance|CSID with minimal starch tolerance Orphanet:306446|ICD10:E74.3 owl:Class MONDO:0022890 biolink:NamedThing craniosynostosis Fontaine type tmpak2llvmy_mondo_relaxed.owl GARD:0001595 https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type owl:Class MONDO:0023154 biolink:NamedThing fibromatosis multiple non ossifying tmpak2llvmy_mondo_relaxed.owl Jaffe Campanacci syndrome|disseminated nonossifying fibromas in association with cafe-au-lait spots GARD:0000309|SCTID:715432009|UMLS:C0796000 https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying owl:Class MONDO:0013105 biolink:NamedThing basal cell carcinoma, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 5|BCC5 OMIM:613062|UMLS:C2751601 owl:Class HGNC:23805 biolink:NamedThing ASXL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012109 biolink:NamedThing hypertension, essential, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, type 4|Hyt4|hypertension, essential, susceptibility to, 4 OMIM:608742|UMLS:C1837479 owl:Class MONDO:0008679 biolink:NamedThing Wilms tumor 1 tmpak2llvmy_mondo_relaxed.owl Wilms tumor 1|renal Wilms tumor|Wilms tumor type 1|WT1|nephroblastoma|Wilms' tumor UMLS:CN033288|OMIM:194070 owl:Class MONDO:0100297 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 tmpak2llvmy_mondo_relaxed.owl short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|SSFSC UMLS:CN807949|OMIM:617877 owl:Class MONDO:0031439 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies tmpak2llvmy_mondo_relaxed.owl OMIMPS:617877 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0043168 biolink:NamedThing panostotic fibrous dysplasia tmpak2llvmy_mondo_relaxed.owl unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia MESH:C537164|GARD:0004213|UMLS:C2931430 owl:Class MONDO:0024649 biolink:NamedThing optic tract astrocytoma An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpak2llvmy_mondo_relaxed.owl optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma|visual pathway astrocytoma|astrocytoma (excluding glioblastoma) of optic tract UMLS:C1336971|NCIT:C7533 owl:Class NCBITaxon:1489341 biolink:NamedThing Osteoglossocephalai tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32443 biolink:NamedThing Teleostei tmpak2llvmy_mondo_relaxed.owl teleost fishes GC_ID:1 ncbi_taxonomy owl:Class HGNC:26724 biolink:NamedThing ANKS6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015014 biolink:NamedThing coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness tmpak2llvmy_mondo_relaxed.owl coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|COMMAD OMIM:617306|UMLS:C4310625 owl:Class MONDO:0044206 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal recessive tmpak2llvmy_mondo_relaxed.owl Nance-Sweeney chondrodysplasia|Weissenbacher-Zweymuller syndrome, formerly|Weissenbacher-Zweymuller syndrome|OSMED|OSMEDB|otospondylomegaepiphyseal dysplasia, autosomal recessive|Nance-Insley syndrome|chondrodystrophy with sensorineural deafness OMIM:215150 owl:Class CL:1001597 biolink:NamedThing seminal vesicle glandular cell Glandular cell of seminal vesicle epithelium. tmpak2llvmy_mondo_relaxed.owl seminal vesicle glandular cells CALOHA:TS-1283 owl:Class MONDO:0011867 biolink:NamedThing microphthalmia with cyst, bilateral facial clefts, and limb anomalies tmpak2llvmy_mondo_relaxed.owl microphthalmia with cyst, bilateral facial clefts, and limb anomalies MESH:C564370|OMIM:607597|UMLS:C1843492 owl:Class UBERON:0008230 biolink:NamedThing tibialis Either of two muscles of the calf of the leg. tmpak2llvmy_mondo_relaxed.owl tibialis muscle owl:Class HP:0100606 biolink:NamedThing Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. tmpak2llvmy_mondo_relaxed.owl Respiratory system tumor|Respiratory system tumour SNOMEDCT_US:448708002|UMLS:C0035244|NCIT:C3262|MSH:D012142|SNOMEDCT_US:126667002 doelkens 2010-12-27T06:08:41Z human_phenotype owl:Class MONDO:0006646 biolink:NamedThing angioleiomyoma A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. tmpak2llvmy_mondo_relaxed.owl vascular leiomyoma|angioleiomyoma|angiomyoma|angiomyoma (morphologic abnormality) EFO:1000806|MESH:D018229|ICDO:8894/0|UMLS:C0206653|DOID:4265|NCIT:C3747|EFO:1000084 owl:Class MONDO:0006989 biolink:NamedThing suppurative periapical periodontitis Localized collection of pus in the tissues that enclose the root of a tooth. tmpak2llvmy_mondo_relaxed.owl dentoalveolar abscess|suppurative apical periodontitis|periapical abscess|periapical dental abscess|apical abscess DOID:2562|EFO:1001202|MESH:D010482|UMLS:C0031024|NCIT:C34913 owl:Class MONDO:0009222 biolink:NamedThing Gollop-Wolfgang complex Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. tmpak2llvmy_mondo_relaxed.owl GWC|femur bifid with monodactylous ectrodactyly|bifid femur-monodactylous ectrodactyly syndrome|femur, unilateral bifid, with monodactylous ectrodactyly|Gollop-Wolfgang complex SCTID:716006003|MESH:C537917|GARD:0002285|OMIM:228250|ICD10:Q74.8|UMLS:C1856789|Orphanet:1986 owl:Class MONDO:0020373 biolink:NamedThing early-onset anterior polar cataract tmpak2llvmy_mondo_relaxed.owl cataract anterior polar|early-onset anterior subcapsular cataract ICD10:Q12.0|Orphanet:98988|UMLS:C1855179|GARD:0001140 owl:Class MONDO:0008917 biolink:NamedThing heart defects-limb shortening syndrome Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. tmpak2llvmy_mondo_relaxed.owl cardioskeletal syndrome kuwaiti type|cardioskeletal syndrome, KUWAITI type|heart defects and limb shortening|heart defect and limb shortening syndrome GARD:0002613|UMLS:C1859327|SCTID:721009008|Orphanet:1354|OMIM:212135|MESH:C535850|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type owl:Class NCBITaxon:6318 biolink:NamedThing Trichostrongylus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6315 biolink:NamedThing Trichostrongylidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010254 biolink:NamedThing 2nd arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 2nd arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl branchial arch 2 mesenchyme from neural crest|pharyngeal arch 2 mesenchyme from neural crest|neural crest derived arch 2 mesenchyme owl:Class MONDO:0002275 biolink:NamedThing generalized atherosclerosis Atherosclerosis that is not localized. tmpak2llvmy_mondo_relaxed.owl generalised atherosclerosis|generalized and unspecified atherosclerosis UMLS:C0017327|NCIT:C35767|SCTID:39823006|ICD9:440.9|ICD10:I70.91|DOID:2347 owl:Class MONDO:0005259 biolink:NamedThing Asperger syndrome A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. tmpak2llvmy_mondo_relaxed.owl asperger syndrome, susceptibility to|ASPG|autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language SCTID:23560001|EFO:0003757|GARD:0005855|DOID:0050432|OMIMPS:608638|ICD10:F84.5|MESH:D020817|NCIT:C97159 The name Aspergers is controversial, however, it seems to be the community accepted name. owl:Class ECTO:1000000 biolink:NamedThing exposure to environmental condition A exposure event involving the interaction of an exposure receptor to the condition of environmental condition. tmpak2llvmy_mondo_relaxed.owl environmental condition exposure owl:Class MONDO:0044797 biolink:NamedThing desmoplastic nevus A benign melanocytic nevus characterized by the presence of desmoplastic stroma. tmpak2llvmy_mondo_relaxed.owl Desmoplastic Nevus NCIT:C4497|UMLS:C0346098 owl:Class UBERON:0005153 biolink:NamedThing epithelial bud A bud is a protrusion that forms from an epithelial sheet by localized folding. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009655 biolink:NamedThing auricular artery An artery that supplies oxygenated blood to the ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018081 biolink:NamedThing hemorrhagic fever-renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. tmpak2llvmy_mondo_relaxed.owl Hantavirus fever|Hantavirosis MedDRA:10023484|ICD10:A98.5+|MESH:C535630|UMLS:CN204401|Orphanet:340|UMLS:C2930957|ICD10:N08.0* owl:Class MONDO:0017359 biolink:NamedThing 3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. tmpak2llvmy_mondo_relaxed.owl ICD10:E71.111|Orphanet:289902|UMLS:C3696376|DOID:0060336|OMIMPS:250950|ICD10:E71.1|NCIT:C98678|SCTID:237950009|MESH:C579867 owl:Class MONDO:0018267 biolink:NamedThing combined cervical dystonia tmpak2llvmy_mondo_relaxed.owl Orphanet:370114|ICD10:G24.3 owl:Class MONDO:0033116 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 26 tmpak2llvmy_mondo_relaxed.owl SCAR26|autosomal recessive spinocerebellar ataxia 26|spinocerebellar ataxia, autosomal recessive 26 UMLS:CN417133|OMIM:617633|DOID:0080260 owl:Class MONDO:0016281 biolink:NamedThing 46,XX ovotesticular disorder of sex development 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. tmpak2llvmy_mondo_relaxed.owl ovotesticular disorders of Sex development|ovotesticular DSD|ovotesticular differences of Sex development|true hermaphroditism|46,XX ovotesticular DSD Orphanet:2138|UMLS:C2748895|NCIT:C127167|MESH:D050090|SCTID:18978002|ICD10:Q56.0|UMLS:CN776920 owl:Class MONDO:0015379 biolink:NamedThing cervical dermoid cyst Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. tmpak2llvmy_mondo_relaxed.owl dermoid cyst of the neck ICD10:Q18.8|Orphanet:141046|SCTID:763129001 owl:Class UBERON:0011899 biolink:NamedThing epimysium Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. tmpak2llvmy_mondo_relaxed.owl epimysia|fascia of muscle organ owl:Class OBI:0000112 biolink:NamedThing specimen role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019463 biolink:NamedThing non-amyloid monoclonal immunoglobulin deposition disease tmpak2llvmy_mondo_relaxed.owl Randall disease|non-amyloid MIDD Orphanet:86861|ICD10:D89.8|UMLS:CN206242 owl:Class GO:0050765 biolink:NamedThing negative regulation of phagocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. tmpak2llvmy_mondo_relaxed.owl down regulation of phagocytosis|inhibition of phagocytosis|downregulation of phagocytosis|down-regulation of phagocytosis owl:Class MONDO:0011765 biolink:NamedThing multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|BHMED|bilateral hereditary micro-epiphyseal dysplasia|multiple epiphyseal dysplasia, MATN3 related|multiple epiphyseal dysplasia 5|EDM5|multiple epiphyseal dysplasia, MATN3-related|MATN3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, type 5|epiphyseal dysplasia, multiple, 5|Microepiphyseal dysplasia, bilateral hereditary|Polyepiphyseal dysplasia type 5|epiphyseal dysplasia multiple 5|MED5 OMIM:607078|ICD10:Q77.3|UMLS:C4275060|DOID:0070299|SCTID:715674008|MESH:C535505|Orphanet:93311|GARD:0009794|UMLS:C1846843 owl:Class MONDO:0044319 biolink:NamedThing intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}). tmpak2llvmy_mondo_relaxed.owl IDDFSDA|intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies OMIM:617452|Orphanet:505237|UMLS:C4479520 owl:Class MONDO:0010596 biolink:NamedThing membranoproliferative glomerulonephritis, X-linked tmpak2llvmy_mondo_relaxed.owl membranoproliferative glomerulonephritis, X-linked|Mesangiocapillary glomerulonephritis, X-linked UMLS:C1844501|MESH:C564423|OMIM:305800 owl:Class GO:1902490 biolink:NamedThing regulation of sperm capacitation Any process that modulates the frequency, rate or extent of sperm capacitation. tmpak2llvmy_mondo_relaxed.owl regulation of sperm activation owl:Class HGNC:7468 biolink:NamedThing MTR tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:149546 biolink:NamedThing Histoplasma capsulatum var. duboisii tmpak2llvmy_mondo_relaxed.owl Histoplasma duboisii GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008949 biolink:NamedThing cerebral malformation, seizures, hypertrichosis, and overlapping fingers tmpak2llvmy_mondo_relaxed.owl Muller Barth Menger syndrome|cerebral malformation, seizures, hypertrichosis, and overlapping fingers OMIM:213820|GARD:0003812|MESH:C537370|UMLS:C1859259 owl:Class CHEBI:39447 biolink:NamedThing pyrimidines Any compound having a pyrimidine as part of its structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020019 biolink:NamedThing digestive tract malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98039 owl:Class UBERON:0002364 biolink:NamedThing tympanic membrane A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl Rivinus' membrane|ear drum|membranous wall of tympanic cavity|tympanum|paries membranaceus cavi tympani|lateral wall of tympanic cavity|eardrum|myrinx owl:Class MONDO:0019282 biolink:NamedThing syndromic hair shaft abnormality tmpak2llvmy_mondo_relaxed.owl Orphanet:79367|UMLS:CN227611 owl:Class GO:0015145 biolink:NamedThing monosaccharide transmembrane transporter activity Enables the transfer of a monosaccharide from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051886 biolink:NamedThing negative regulation of timing of anagen Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpak2llvmy_mondo_relaxed.owl down regulation of anagen|down-regulation of anagen|downregulation of anagen|inhibition of anagen|negative regulation of anagen owl:Class MONDO:0023147 biolink:NamedThing fetal parainfluenza virus type 3 syndrome A syndrome caused by HPIV-3. tmpak2llvmy_mondo_relaxed.owl Human respirovirus 3 caused infectious embryofetopathy|Human respirovirus 3 infectious embryofetopathy GARD:0002309 https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome owl:Class HGNC:1932 biolink:NamedThing CHI3L1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013163 biolink:NamedThing nephronophthisis-like nephropathy 1 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis-like nephropathy 1|nephronophthisis-like nephropathy type 1|NPHPL1|nephronophthisis (disease) caused by mutation in XPNPEP3|NPHP-XPNPEP3|XPNPEP3 nephronophthisis (disease) DOID:0111117|OMIM:613159|UMLS:C3150419 owl:Class HP:0009122 biolink:NamedThing Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. tmpak2llvmy_mondo_relaxed.owl UMLS:C4024585 peter 2008-04-05T11:29:00Z human_phenotype owl:Class HP:0009115 biolink:NamedThing Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. tmpak2llvmy_mondo_relaxed.owl Absent/underdeveloped skeleton|Absent/small skeleton UMLS:C4024592 peter 2008-04-05T10:53:00Z human_phenotype owl:Class UBERON:0001468 biolink:NamedThing intervertebral joint The joint between adjacent vertebral bodies. May be composed of the nucleus pulposus, annular ligament, and the anterior and posterior longitudinal ligaments. tmpak2llvmy_mondo_relaxed.owl inter-centrum joint|vertebral joint|intervertebral symphysis|inter-vertebral joint|joint of vertebral body owl:Class NCBITaxon:59848 biolink:NamedThing Chrysopsini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0010563 biolink:NamedThing negative regulation of phosphorus metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004404 biolink:NamedThing refractory precursor T-lymphoblastic lymphoma/leukemia T-lymphoblastic leukemia/lymphoma resistant to treatment tmpak2llvmy_mondo_relaxed.owl refractory precursor T-lymphoblastic lymphoma/leukemia|refractory T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia refractory NCIT:C8696|DOID:7936|UMLS:C0854859 owl:Class MONDO:0009258 biolink:NamedThing classic galactosemia Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. tmpak2llvmy_mondo_relaxed.owl classical galactosemia, homozygous duarte-type|galactosemia|galactosemia, classic|classic galactosemia|galactose-1-phosphate uridylyltransferase deficiency|galactosemia, Duarte variant|galactosemia type 1|Galt deficiency|GALT deficiency|galactose-1-phosphate uridyltransferase deficiency DOID:0111459|OMIM:230400|SCTID:10899004|Orphanet:79239|ICD10:E74.2 owl:Class UBERON:0011241 biolink:NamedThing ethmoid region The most anterior region of the braincase. Provides structural support for peripheral olfactory organ. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016980 biolink:NamedThing ATR-X-related syndrome tmpak2llvmy_mondo_relaxed.owl ATR-X-related syndrome Orphanet:263355|UMLS:CN202282 owl:Class MONDO:0021583 biolink:NamedThing melanocytic skin neoplasm A melanocytic neoplasm that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl melanocytic neoplasm of skin|zone of skin melanocytic neoplasm|melanocytic skin neoplasm|cutaneous melanocytic neoplasm|melanocytic neoplasm of zone of skin NCIT:C7161|UMLS:C0349501 owl:Class MONDO:0009905 biolink:NamedThing urban-Rogers-Meyer syndrome This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. tmpak2llvmy_mondo_relaxed.owl intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus, osteopenia, and camptodactyly|urban-Rogers-Meyer syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome MESH:C538276|GARD:0005426|UMLS:C0796189|Orphanet:3409|ICD10:Q87.8|OMIM:264010|SCTID:716334004 owl:Class MONDO:0018748 biolink:NamedThing linear IgA Dermatosis Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). tmpak2llvmy_mondo_relaxed.owl Orphanet:46488|SCTID:95330001|MedDRA:10024515|MESH:D062027|UMLS:C0406650|ICD10:L10.8|GARD:0010960 owl:Class UBERON:0019262 biolink:NamedThing white matter of myelencephalon A white matter that is part of the myelencephalon. tmpak2llvmy_mondo_relaxed.owl myelencephalic white matter owl:Class MONDO:0015128 biolink:NamedThing primary adrenal insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. tmpak2llvmy_mondo_relaxed.owl Orphanet:101958|UMLS:C3887896|NCIT:C113172|MedDRA:10052381 owl:Class FOODON:00001094 biolink:NamedThing fermented beverage tmpak2llvmy_mondo_relaxed.owl alcoholic beverage 2019-06-11 07:25:19+00:00 SUBSET_SIREN:F5644 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) * formed as a result of 'microbial/enzymatic modification process' (http://purl.obolibrary.org/obo/FOODON_03460119) * formed as a result of 'curing or aging process' (http://purl.obolibrary.org/obo/FOODON_03460253) http://langual.org subset_siren Damion Dooley owl:Class MONDO:0008907 biolink:NamedThing PMM2-CDG PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. tmpak2llvmy_mondo_relaxed.owl carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|PMM2-CDG (CDG-Ia)|Jaeken syndrome|congenital disorder of glycosylation type 1a|congenital disorder of glycosylation type Ia|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|carbohydrate-deficient glycoprotein syndrome type 1A|CDG syndrome type Ia|carbohydrate deficient glycoprotein syndrome type Ia|CDG 1A|CDG1A|PMM2-CDG|congenital disorder of glycosylation, type Ia|CDG-IA|phosphomannomutase 2 deficiency|carbohydrate-deficient glycoprotein syndrome, type Ia ICD10:E77.8|Orphanet:79318|OMIM:212065|SCTID:459063003|GARD:0009826|MESH:C535739|NCIT:C126868|DOID:0080552|UMLS:C0349653 owl:Class MONDO:0012114 biolink:NamedThing Ehlers-Danlos syndrome, Beasley-Cohen type tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, Beasley-Cohen type|Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract UMLS:C1837462|MESH:C536199|OMIM:608763 owl:Class ENVO:01001689 biolink:NamedThing mass of gas An object which is composed primarily of a gas. tmpak2llvmy_mondo_relaxed.owl gaseous mass owl:Class ENVO:01001688 biolink:NamedThing mass of fluid An object which is composed primarily of a fluid. tmpak2llvmy_mondo_relaxed.owl fluid mass owl:Class UBERON:0012278 biolink:NamedThing gland of nasal mucosa The nasal glands are the seromucous glands in the respiratory region of the nasal mucous membrane. The three major types of nasal glands are anterior serous glands, seromucous glands, and Bowman glands. tmpak2llvmy_mondo_relaxed.owl glandulae nasales|glandula nasalis|nasal gland owl:Class MONDO:0023079 biolink:NamedThing epidermal nevus vitamin D resistant rickets tmpak2llvmy_mondo_relaxed.owl GARD:0002136 https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets owl:Class UBERON:0003658 biolink:NamedThing hip muscle Any muscle organ that is part of a hip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of hip|regio coxae muscle organ|muscle organ of hip region|hip region muscle organ|hip muscle organ|muscle organ of regio coxae owl:Class MONDO:0013544 biolink:NamedThing atrial fibrillation, familial, 11 Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene. tmpak2llvmy_mondo_relaxed.owl familial atrial fibrillation caused by mutation in GJA5|ATFB11|atrial fibrillation, familial, 11|atrial fibrillation, familial, type 11|GJA5 familial atrial fibrillation OMIM:614049|UMLS:C3279693 owl:Class MONDO:0005865 biolink:NamedThing mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. tmpak2llvmy_mondo_relaxed.owl ICD9:495.5|UMLS:C0155889|DOID:2708|SCTID:52333004|EFO:0007385|ICD10:J67.5 owl:Class MONDO:0015613 biolink:NamedThing dentin dysplasia Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. tmpak2llvmy_mondo_relaxed.owl DD|dentinal dysplasia SCTID:109492001|DOID:701|ICD10:K00.5|MESH:D003805|Orphanet:1653|ICD9:520.5 owl:Class MONDO:0017483 biolink:NamedThing humeral agenesis/hypoplasia, bilateral tmpak2llvmy_mondo_relaxed.owl humeral intercalary meromelia, bilateral Orphanet:295063|ICD10:Q71.8 owl:Class MONDO:0017440 biolink:NamedThing humeral agenesis/hypoplasia Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. tmpak2llvmy_mondo_relaxed.owl congenital hypoplasia of humerus|congenital absence of humerus|humeral intercalary meromelia Orphanet:294973|ICD10:Q71.8 owl:Class NCBITaxon:10780 biolink:NamedThing Parvoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010366 biolink:NamedThing FG syndrome 5 tmpak2llvmy_mondo_relaxed.owl FG syndrome 5|FGS5 MESH:C564480|UMLS:C1845119|OMIM:300581 owl:Class MONDO:0009570 biolink:NamedThing McDonough syndrome A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. tmpak2llvmy_mondo_relaxed.owl intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|McDonough syndrome|mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect OMIM:248950|MESH:C538158|GARD:0003424|ICD10:Q87.8|Orphanet:2471|SCTID:715441004|UMLS:C0796038 https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome owl:Class MONDO:0019647 biolink:NamedThing congenital bilateral megacalycosis tmpak2llvmy_mondo_relaxed.owl ICD10:Q63.8|Orphanet:93177 owl:Class MONDO:0019639 biolink:NamedThing congenital megacalycosis Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. tmpak2llvmy_mondo_relaxed.owl Orphanet:93109|SCTID:85901000|ICD10:Q63.8|ICD9:753.3 owl:Class UBERON:0004862 biolink:NamedThing left lung alveolus An alveolus that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl alveolus of lobe of left lung|alveolus of left lung owl:Class UBERON:0003215 biolink:NamedThing alveolus organ part that has the form of a hollow cavity[WP]. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:18140 biolink:NamedThing hydrogen halide tmpak2llvmy_mondo_relaxed.owl hydrogen halide|HX|hydrogen halides owl:Class CHEBI:32178 biolink:NamedThing Talc tmpak2llvmy_mondo_relaxed.owl Talc owl:Class MONDO:0003562 biolink:NamedThing rete testis neoplasm A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl rete testis neoplasm (disease)|rete testis tumor|neoplasm of rete testis|rete testis neoplasm|tumor of rete testis NCIT:C39955|DOID:5639|UMLS:C1514912 owl:Class GO:0090154 biolink:NamedThing positive regulation of sphingolipid biosynthetic process Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032732 biolink:NamedThing deafness, autosomal recessive 113 tmpak2llvmy_mondo_relaxed.owl DEAFNESS, AUTOSOMAL RECESSIVE 113|DFNB113 OMIM:618410|DOID:0111636 owl:Class UBERON:0004175 biolink:NamedThing internal genitalia The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals tmpak2llvmy_mondo_relaxed.owl internal sex organ|internal genitalia|internal genitals|internal reproductive organ owl:Class UBERON:0014394 biolink:NamedThing uterine fat pad Encapsulated adipose tissue associated with the uterus tmpak2llvmy_mondo_relaxed.owl uterine fat depot|periuterine fat pad|peri-uterine fat pad owl:Class HP:0002140 biolink:NamedThing Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. tmpak2llvmy_mondo_relaxed.owl Ischaemic stroke UMLS:C0948008|SNOMEDCT_US:422504002 human_phenotype owl:Class HP:0002637 biolink:NamedThing Cerebral ischemia tmpak2llvmy_mondo_relaxed.owl Disruption of blood oxygen supply to brain|Brain ischemia|Cerebrovascular ischemia UMLS:C0007786|SNOMEDCT_US:287731003|MSH:D002545|UMLS:C0917798|SNOMEDCT_US:389100007 human_phenotype owl:Class CHEBI:76731 biolink:NamedThing EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*). tmpak2llvmy_mondo_relaxed.owl EC 1.5.* inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor|EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|inhibitors of oxidoreductase acting on CH-NH group of donors|inhibitors of oxidoreductase acting on CH-NH group of donor|inhibitor of oxidoreductase acting on CH-NH group of donor|inhibitor of oxidoreductase acting on CH-NH group of donors|EC 1.5.* inhibitor owl:Class MONDO:0016097 biolink:NamedThing symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. tmpak2llvmy_mondo_relaxed.owl SCTID:765197008|ICD10:G71.0|Orphanet:206546|UMLS:CN200864 owl:Class MONDO:0016899 biolink:NamedThing Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpak2llvmy_mondo_relaxed.owl severe dystrophinopathy, Duchenne and Becker type Orphanet:262|ICD10:G71.0|UMLS:CN227033 owl:Class MONDO:0018443 biolink:NamedThing FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:404451|ICD10:Q87.8|UMLS:CN226185 owl:Class MONDO:0035117 biolink:NamedThing PUM1-associated developmental disability-ataxia-seizure syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:589515 owl:Class MONDO:0018999 biolink:NamedThing LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. tmpak2llvmy_mondo_relaxed.owl lecithin-cholesterol acyltransferase deficiency ICD10:E78.6|SCTID:49227001|Orphanet:650 owl:Class MONDO:0017773 biolink:NamedThing hypoalphalipoproteinemia A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. tmpak2llvmy_mondo_relaxed.owl UMLS:C0473527|NCIT:C84774|Orphanet:31153|SCTID:190785000|MedDRA:10065156|MESH:D052456|ICD10:E78.6 owl:Class MONDO:0017481 biolink:NamedThing amelia of lower limb, bilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295059|ICD10:Q72.0 owl:Class MONDO:0002330 biolink:NamedThing alcoholic psychosis A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. tmpak2llvmy_mondo_relaxed.owl alcoholic psychoses MESH:D011604|SCTID:42344001|ICD9:291.9|EFO:1001260|ICD9:291.8|DOID:252|ICD9:291.89 owl:Class MONDO:0024471 biolink:NamedThing non-inflammatory vasculopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:496924 owl:Class UBERON:0019310 biolink:NamedThing glossopharyngeal nerve root tmpak2llvmy_mondo_relaxed.owl glossopharyngeal nerve root owl:Class HGNC:16791 biolink:NamedThing TSEN15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003740 biolink:NamedThing AIDS phobia An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. tmpak2llvmy_mondo_relaxed.owl AIDS phobia NCIT:C35614|DOID:603|EFO:1001873|UMLS:C0853870 owl:Class HGNC:4553 biolink:NamedThing GPX1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014701 biolink:NamedThing extraembryonic vascular system A vascular system that overlaps a umbilical cord and is part of a entire extraembryonic component. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012502 biolink:NamedThing normophosphatemic familial tumoral calcinosis tmpak2llvmy_mondo_relaxed.owl familial normophosphatemic tumoral calcinosis|NFTC|normophosphatemic familial tumoral calcinosis|tumoral calcinosis, normophosphatemic, familial|calcinosis, tumoral, with Normophosphatemia GARD:0010878|Orphanet:306658|DOID:0080170|OMIM:610455|ICD10:M11.2|MESH:C566473 https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis owl:Class MONDO:0003896 biolink:NamedThing breast capillary hemangioma A capillary hemangioma arising from the breast. tmpak2llvmy_mondo_relaxed.owl capillary hemangioma of breast|capillary angioma of the breast|breast capillary hemangioma|capillary angioma of breast|breast capillary angioma|capillary hemangioma of the breast UMLS:C1332619|DOID:6491|NCIT:C5210 owl:Class GO:0051707 biolink:NamedThing response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002427 biolink:NamedThing arm skin A zone of skin that is part of an arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl brachial region skin|skin of arm owl:Class MONDO:0043174 biolink:NamedThing Pfeiffer Tietze Welte syndrome tmpak2llvmy_mondo_relaxed.owl sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th MESH:C537891|UMLS:C2931657|GARD:0004308 owl:Class UBERON:0005090 biolink:NamedThing muscle structure Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. tmpak2llvmy_mondo_relaxed.owl musculus|muscle element|muscle owl:Class UBERON:0003864 biolink:NamedThing middle phalanx of manus A middle phalanx that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl middle manual phalanx|middle phalanx of hand|phalanx media manus|middle phalanx of finger|hand middle phalanx|middle phalanx of manual digit owl:Class UBERON:0035313 biolink:NamedThing posterior wall of laryngopharynx tmpak2llvmy_mondo_relaxed.owl posterior wall of hypopharynx owl:Class CL:0000636 biolink:NamedThing Mueller cell Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer. tmpak2llvmy_mondo_relaxed.owl Müller cell|Muller glia BTO:0003064 cell owl:Class HGNC:25928 biolink:NamedThing WDR73 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001546 biolink:NamedThing hypermobility of coccyx tmpak2llvmy_mondo_relaxed.owl hypermobility of the coccyx|coccygeal hypermobility syndrome ICD9:724.71|SCTID:202809009|DOID:12537|UMLS:C0158295 owl:Class MONDO:0004324 biolink:NamedThing testicular fibroma A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. tmpak2llvmy_mondo_relaxed.owl UMLS:C1515282|NCIT:C39951|DOID:7675 owl:Class MONDO:0018356 biolink:NamedThing secondary neonatal autoimmune disease tmpak2llvmy_mondo_relaxed.owl Transplacentally acquired neonatal autoimmune disease Orphanet:398091|UMLS:CN226097 owl:Class HP:0000133 biolink:NamedThing Gonadal dysgenesis tmpak2llvmy_mondo_relaxed.owl Pure gonadal dysgenesis|Mixed gonadal dysgenesis MSH:D006059|SNOMEDCT_US:38804009|UMLS:C0687149|UMLS:C0018055|SNOMEDCT_US:205681004|SNOMEDCT_US:95219002|UMLS:C0018051|MSH:D006060|SNOMEDCT_US:83579008 HP:0003243 human_phenotype owl:Class MONDO:0021228 biolink:NamedThing brainstem neoplasm A neoplasm (disease) that involves the brainstem. tmpak2llvmy_mondo_relaxed.owl neoplasm of brainstem|tumor of brain stem|brain stem tumor|tumor of brainstem|brainstem tumor|tumor of the brainstem|neoplasm of the brain stem|Brain stem neoplasm|brainstem neoplasm (disease)|neoplasm of brain stem|tumor of the brain stem|neoplasm of the brainstem NCIT:C4869|Orphanet:36414 owl:Class MONDO:0021750 biolink:NamedThing pyonephrosis Pus within the collecting system of the kidney. tmpak2llvmy_mondo_relaxed.owl pyonephrosis|Infected Hydronephrosis|Pyonephrosis|Hydronephrosis, Infected UMLS:C0034216|MESH:D053018|NCIT:C123032|SCTID:48631008 owl:Class MONDO:0005884 biolink:NamedThing opisthorchiasis Infection with flukes of the genus Opisthorchis. tmpak2llvmy_mondo_relaxed.owl infection by Opisthorchis|infection due to Opisthorchis (felineus)(viverrini)|infection due to cat liver fluke MESH:D009889|GARD:0009746|SCTID:1059007|DOID:13768|ICD9:121.0|EFO:0007404|ICD10:B66.0|UMLS:C0029106 https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis owl:Class UBERON:0006127 biolink:NamedThing funiculus of spinal cord A funiculus of neuraxis that is part of a spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord funiculus|white column of spinal cord owl:Class MONDO:0100376 biolink:NamedThing acute myeloid leukemia, t(9;11)(p21.3;q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.) tmpak2llvmy_mondo_relaxed.owl AML, t(9;11)(p21.3;q23.3)|AML, t(9;11)(p22;q23) term to be merged with: MONDO:0020317 'acute myeloid leukemia with 11q23 abnormalities' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class HP:0002373 biolink:NamedThing Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. tmpak2llvmy_mondo_relaxed.owl Febrile convulsion|Seizures, generalized, associated with fever|Seizures, febrile, in early childhood|Fever induced seizures|Febrile seizures UMLS:C0009952|MSH:D003294|SNOMEDCT_US:41497008 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. HP:0007102|HP:0002175 human_phenotype owl:Class MONDO:0002975 biolink:NamedThing malignant breast melanoma A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. tmpak2llvmy_mondo_relaxed.owl malignant breast melanoma|malignant melanoma of breast|breast melanoma|malignant melanoma of the breast|breast melanoma (disease)|melanoma (disease) of breast NCIT:C8410|SCTID:188050009|UMLS:C0346787|DOID:4364 owl:Class MONDO:0006735 biolink:NamedThing duodenogastric reflux Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. tmpak2llvmy_mondo_relaxed.owl duodenogastric reflux (finding) EFO:1000909|MESH:D004383|UMLS:C0013299|DOID:4071|MedDRA:10060865 owl:Class UBERON:0005411 biolink:NamedThing bony otic capsule the cartilage or bony capsule surrounding the inner ear mechanism tmpak2llvmy_mondo_relaxed.owl otic capsule bone owl:Class MONDO:0016117 biolink:NamedThing muscular lipidosis tmpak2llvmy_mondo_relaxed.owl lipid storage myopathy Orphanet:206953|ICD9:359.89|UMLS:C0410214|SCTID:240095001 owl:Class UBERON:0003427 biolink:NamedThing abdominal fat pad The encapsulated adipose tissue in the abdomen. tmpak2llvmy_mondo_relaxed.owl abdominal fat depot|abdomen fat pad|fat pad of abdomen owl:Class CHEBI:29347 biolink:NamedThing monocarboxylic acid amide A carboxamide derived from a monocarboxylic acid. tmpak2llvmy_mondo_relaxed.owl monocarboxylic acid amides owl:Class NCBITaxon:6774 biolink:NamedThing Portunoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003839 biolink:NamedThing forelimb joint A limb joint that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl joint of limb of upper extremity|anteriormost limb limb joint|upper extremity joint of limb|forelimb limb joint|joint of limb of superior member|superior member joint of limb|superior member limb joint|limb joint of superior member|wing joint|forelimb joint of limb|fore limb joint of limb|limb joint of fore limb|joint of limb of fore limb|joint of limb of forelimb|joint of free upper limb|limb joint of upper extremity|limb joint of forelimb|anteriormost limb joint of limb|upper extremity limb joint|limb joint of anteriormost limb|fore limb limb joint|joint of limb of anteriormost limb owl:Class UBERON:0003657 biolink:NamedThing limb joint Any joint that is part of a (free) limb. tmpak2llvmy_mondo_relaxed.owl joint of limb|skeletal limb joint|joint of limb skeletal system owl:Class MONDO:0024357 biolink:NamedThing drug induced central sleep apnea tmpak2llvmy_mondo_relaxed.owl drug induced central sleep apnea UMLS:C3662033|SCTID:104831000119109 owl:Class MONDO:0011725 biolink:NamedThing Crigler-Najjar syndrome type 2 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. tmpak2llvmy_mondo_relaxed.owl Crigler Najjar syndrome, type 2|Crigler-Najjar syndrome, type 2|hereditary unconjugated hyperbilirubinemia type 2|Crigler-Najjar syndrome, type II|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|Arias syndrome|bilirubin-UGT deficiency type 2|hyperbilirubinemia, Crigler-Najjar type 2|UGT deficiency type 2 OMIM:606785|Orphanet:79235|GARD:0008683|UMLS:C2931132|MedDRA:10011387|MESH:C536213|SCTID:68067009|ICD10:E80.5 https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 owl:Class HGNC:21143 biolink:NamedThing ZBTB24 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:951 biolink:NamedThing Neorickettsia sennetsu tmpak2llvmy_mondo_relaxed.owl Ehrlichia sennetsu|Rickettsia sennetsu PMID:11594628|PMID:11760958|PMID:1736961|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:33993 biolink:NamedThing Neorickettsia tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:7537065|PMID:11760958 NCBITaxon:106180 ncbi_taxonomy owl:Class MONDO:0018673 biolink:NamedThing IgG4-related pachymeningitis Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment. tmpak2llvmy_mondo_relaxed.owl idiopathic hypertrophic pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic cranial pachymeningitis UMLS:C4545992|GARD:0013256|Orphanet:449427|ICD10:G03.9|SCTID:762282007 owl:Class MONDO:0017294 biolink:NamedThing glycerol kinase deficiency, infantile form Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. tmpak2llvmy_mondo_relaxed.owl Orphanet:284408|ICD10:E74.8 owl:Class MONDO:0024570 biolink:NamedThing hyperparathyroidism 4 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism 4|hyperparathyroidism type 4|HRPT4|familial isolated hyperparathyroidism caused by mutation in GCM2|GCM2 familial isolated hyperparathyroidism OMIM:617343|UMLS:C4479229|UMLS:CN240514 owl:Class MONDO:0015027 biolink:NamedThing familial isolated hyperparathyroidism A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. tmpak2llvmy_mondo_relaxed.owl FIHP|familial isolated hyperparathyroidism|FIHPT Orphanet:99879|NCIT:C94830|ICD10:E21.0|UMLS:CN207422 owl:Class MONDO:0018564 biolink:NamedThing 3p25.3 microdeletion syndrome 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. tmpak2llvmy_mondo_relaxed.owl intellectual disability-epilepsy-stereotypic hand movement syndrome|Del(3)p(25.3)|monosomy 3p25.3 ICD10:Q93.5|UMLS:CN237571|Orphanet:435638 owl:Class MONDO:0009947 biolink:NamedThing glutathione synthetase deficiency with 5-oxoprolinuria tmpak2llvmy_mondo_relaxed.owl 5-oxoprolinuria|pyroglutamic aciduria|GSSD|glutathione synthetase deficiency Orphanet:289846|SCTID:39112005|OMIM:266130|ICD10:D55.1|ICD9:270.8 owl:Class MONDO:0042724 biolink:NamedThing macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations tmpak2llvmy_mondo_relaxed.owl Volcke Soekarman syndrome GARD:0000172 owl:Class HGNC:29673 biolink:NamedThing MFAP5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012808 biolink:NamedThing dilated cardiomyopathy 1AA Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|ACTN2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy 1AA with or without left ventricular noncompaction|CMD1AA|dilated cardiomyopathy type 1AA DOID:0110428|UMLS:C2677338|MESH:C567407|ICD10:I42.0|OMIM:612158 owl:Class MONDO:0010626 biolink:NamedThing hyper-IgM syndrome type 1 Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. tmpak2llvmy_mondo_relaxed.owl CD40 ligand deficiency|IHIS|XHIGM|immunodeficiency with hyper-IgM, type 1|hyper-IgM immunodeficiency, X-linked|HIGM1|hyper-IgM syndrome due to CD40L deficiency|XHIM|hyper-IgM syndrome, X-linked|hyper IgM syndrome 1|hyperimmunoglobulin M syndrome|HIGMX-1|X-linked hyper IgM syndrome|HIGM|hyper IgM syndrome|X-linked hyper-IgM syndrome|hyper-IgM syndrome type 1|immunodeficiency 3|hyper IgM immunodeficiency, x-linked|immunodeficiency with hyper IgM type 1|hyper-IgM syndrome|hyper-IgM syndrome due to CD40 ligand deficiency|hyper-IgM syndrome 1 DOID:0060022|SCTID:403835002|DOID:6620|NCIT:C61244|Wikidata:Q3508611|Orphanet:101088|OMIM:308230|UMLS:C0398689|ICD10:D80.5|GARD:0000073 This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 owl:Class MONDO:0014173 biolink:NamedThing microcephaly 11, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. tmpak2llvmy_mondo_relaxed.owl MCPH11|autosomal recessive primary microcephaly caused by mutation in PHC1|microcephaly 11, primary, autosomal recessive|PHC1 autosomal recessive primary microcephaly OMIM:615414|UMLS:C3809431|DOID:0070287 owl:Class MONDO:0006532 biolink:NamedThing cholesteatoma of external ear A cholesteatoma (disease) that involves the external ear. tmpak2llvmy_mondo_relaxed.owl cholesteatoma (disease) of external ear|external ear cholesteatoma (disease)|external canal cholesteatoma SCTID:35247001|UMLS:C0155398|ICD10:H60.40|DOID:9462|ICD9:380.21|EFO:1000677|ICD10:H60.4 owl:Class MONDO:0006530 biolink:NamedThing cholesteatoma A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. tmpak2llvmy_mondo_relaxed.owl primary acquired cholesteatoma (type)|cholesteatoma (disease)|congenital cholesteatoma (type)|secondary acquired cholesteatoma (type)|cholesteatoma cholesteatoma (disease) MESH:D002781|GARD:0010422|ICD10:H71.9|UMLS:C0008373|ICD10:H71.90|EFO:1000675|HP:0009797|ICD9:385.30|NCIT:C2944|SCTID:363668000|DOID:869 owl:Class CHEBI:48354 biolink:NamedThing polar solvent A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds. tmpak2llvmy_mondo_relaxed.owl polar solvents|polar solvent owl:Class MONDO:0004021 biolink:NamedThing mediastinal malignant lymphoma A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl lymphoma of mediastinum|lymphoma of the mediastinum|mediastinal lymphoma|mediastinum lymphoma|primary mediastinal lymphoma|mediastinal malignant lymphoma NCIT:C6633|DOID:6868|UMLS:C1334665 owl:Class MONDO:0012827 biolink:NamedThing scoliosis, isolated, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl scoliosis, isolated, susceptibility to, 5|IS5 OMIM:612239 owl:Class MONDO:0011747 biolink:NamedThing dyslexia, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl DYX5|dyslexia, susceptibility to, 5 OMIM:606896 owl:Class MONDO:0010590 biolink:NamedThing FG syndrome 1 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. tmpak2llvmy_mondo_relaxed.owl OKS|MED12 FG syndrome|Opitz-Kaveggia syndrome|Keller syndrome|FG syndrome caused by mutation in MED12|FG syndrome type 1|FG syndrome 1|FG syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum UMLS:C0220769|OMIM:305450|Orphanet:93932 owl:Class MONDO:0011429 biolink:NamedThing juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). tmpak2llvmy_mondo_relaxed.owl juvenile chronic arthritis|Juvenile idiopathic arthritis|rheumatoid arthritis, systemic juvenile|juvenile rheumatoid arthritis|juvenile idiopathic arthritis|pauciarticular onset juvenile chronic arthritis|systemic juvenile rheumatoid arthritis|pauciarticular juvenile arthritis|JIA|juvenile chronic polyarthritis|acute juvenile rheumatoid arthritis|monarticular juvenile rheumatoid arthritis ICD9:714.31|MESH:D001171|ICD10:M08.9|ICD10:M08.8|SCTID:410502007|DOID:676|ICD10:M08.4|ICD10:M08.1|ICD9:714.32|ICD10:M08.0|ICD10:M08.2|ICD9:714.3|ICD10:M08.40|ICD10:M08.3|Orphanet:92|NCIT:C114357|ICD9:714.33|MedDRA:10059177|OMIM:604302 owl:Class MONDO:0011667 biolink:NamedThing maturity-onset diabetes of the young type 4 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. tmpak2llvmy_mondo_relaxed.owl type 4 maturity-onset diabetes of the young|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|maturity onset diabetes of the Young, type 4|MODY type 4|MODY4|MODY, type 4|MODY insulin promoter factor-1 related|PDX1-associated monogenic diabetes|maturity-onset diabetes of the young, type 4|PDX1 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 4 MESH:C563451|NCIT:C129746|DOID:0111103|SCTID:609571007|OMIM:606392|GARD:0010659 https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 owl:Class MONDO:0100382 biolink:NamedThing acute myeloid leukemia, t(6;9)(p23;q34.1) Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.) tmpak2llvmy_mondo_relaxed.owl AML, t(6;9)(p23;q34)|AML, t(6;9)(p23;q34.1)|AML, t(6;9)(p22.3;q34.1)|AML, t(6;9)(p22;q34) NCIT:C82423 owl:Class GO:1900372 biolink:NamedThing negative regulation of purine nucleotide biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpak2llvmy_mondo_relaxed.owl downregulation of purine nucleotide formation|down-regulation of purine nucleotide biosynthesis|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide synthesis|inhibition of purine nucleotide biosynthetic process|inhibition of purine nucleotide biosynthesis|down regulation of purine nucleotide anabolism|down-regulation of purine nucleotide formation|negative regulation of purine nucleotide anabolism|down regulation of purine nucleotide biosynthetic process|down-regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|negative regulation of purine nucleotide biosynthesis|downregulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide formation|inhibition of purine nucleotide anabolism|down regulation of purine nucleotide synthesis|down-regulation of purine nucleotide synthesis|inhibition of purine nucleotide formation|down-regulation of purine nucleotide biosynthetic process|negative regulation of purine nucleotide formation|downregulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthesis|downregulation of purine nucleotide synthesis owl:Class MONDO:0016661 biolink:NamedThing infantile onset panniculitis with uveitis and systemic granulomatosis tmpak2llvmy_mondo_relaxed.owl ICD10:M08.8|Orphanet:251304 owl:Class UBERON:0003830 biolink:NamedThing thoracic segment muscle Any muscle organ that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl upper body muscle|muscle organ of thorax|thorax muscle organ owl:Class UBERON:0013630 biolink:NamedThing short bone Short bones are designated as those bones that are as wide as they are long. Their primary function is to provide support and stability with little to no movement. They are one of five types of bones: long, short, flat, irregular and sesamoid. Examples of these bones include the tarsals in the foot and the carpals in the hand. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0400000 biolink:NamedThing small intestinal bacterial overgrowth The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity. tmpak2llvmy_mondo_relaxed.owl SIBO owl:Class HGNC:12660 biolink:NamedThing VAX1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006493 biolink:NamedThing protein O-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. tmpak2llvmy_mondo_relaxed.owl protein amino acid O-linked glycosylation owl:Class MONDO:0014244 biolink:NamedThing hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' tmpak2llvmy_mondo_relaxed.owl HSAN with hyperhidrosis and gastrointestinal dysfunction|neuropathy, hereditary sensory and autonomic, type VII|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type 7|CIP with hyperhidrosis and gastrointestinal dysfunction|hereditary sensory and autonomic neuropathy type VII|HSAN 7|HSAN7|insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A|HSAN VII|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction ICD10:G60.8|GARD:12723|GARD:0012732|OMIM:615548|UMLS:C3809882|DOID:0070149|Orphanet:391397|NCIT:C125388 https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 owl:Class HGNC:30881 biolink:NamedThing ALG13 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003742 biolink:NamedThing heart fibrosarcoma A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma of the heart|Cardiac fibrosarcoma|fibrosarcoma of heart|heart fibrosarcoma|cardiac fibrosarcoma|heart fibrosarcoma (disease) DOID:6033|UMLS:C1332844|NCIT:C5361 owl:Class MONDO:0006121 biolink:NamedThing calcifying fibrous tumor A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. tmpak2llvmy_mondo_relaxed.owl calcifying fibrous pseudotumor|calcifying fibrous tumor|CFT UMLS:C1332833|EFO:1000148|NCIT:C6488 owl:Class MONDO:0005783 biolink:NamedThing hemopericardium An accumulation of blood within the pericardial sac. tmpak2llvmy_mondo_relaxed.owl haemopericardium|hemopericardium|hemopericardium (disease) hemopericardium (disease) EFO:0007298|HP:0011851|SCTID:23412002|UMLS:C0019064|DOID:11482|ICD9:423.0 owl:Class MONDO:0001370 biolink:NamedThing pericardial effusion Fluid collection within the pericardial sac, usually due to inflammation. tmpak2llvmy_mondo_relaxed.owl pericardial effusion|fluid, pericardial|pericardial fluid|pericardial effusion (disease) pericardial effusion (disease) NCIT:C3319|UMLS:C0031039|HP:0001698|DOID:118|SCTID:373945007 owl:Class MONDO:0021578 biolink:NamedThing sternal neoplasm A benign or malignant neoplasm that affects the sternum. tmpak2llvmy_mondo_relaxed.owl tumor of sternum|sternum tumor|neoplasm of sternum (disorder)|sternal neoplasm|neoplasm of sternum (disease)|neoplasm of the sternum|sternal tumor|tumor of the sternum|neoplasm of sternum|sternum neoplasm (disease)|sternum neoplasm SCTID:126559003|NCIT:C6730|ICD9:239.2|UMLS:C1290244 owl:Class MONDO:0003426 biolink:NamedThing clear cell adenoma A benign neoplasm composed of glands containing epithelial clear cells. tmpak2llvmy_mondo_relaxed.owl clear cell adenoma|clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign ICDO:8310/0|DOID:5390|UMLS:C0334315|NCIT:C4151 owl:Class HGNC:27962 biolink:NamedThing STING1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003439 biolink:NamedThing urinary bladder villous adenoma An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl villous adenoma of the urinary bladder|urinary bladder villous adenoma|villous adenoma of urinary bladder|bladder villous adenoma NCIT:C7414|DOID:5427|UMLS:C1336893 owl:Class MONDO:0004987 biolink:NamedThing urinary bladder neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 tmpak2llvmy_mondo_relaxed.owl urinary bladder tumor|tumor of urinary bladder|neoplasm of bladder|neoplasm of the bladder|bladder tumors|urinary bladder tumors|tumor of the urinary bladder|neoplasm of the urinary bladder|bladder neoplasm|urinary bladder neoplasms|bladder tumor|urinary bladder neoplasm|neoplasm of urinary bladder|tumor of bladder|tumor of the bladder|urinary bladder neoplasm (disease) UMLS:C0005695|NCIT:C2901|ICD9:239.4|EFO:0000294|SCTID:126885006 owl:Class MONDO:0009040 biolink:NamedThing craniosynostosis-intellectual disability syndrome of 51N and Gettig tmpak2llvmy_mondo_relaxed.owl craniosynostosis-intellectual disability syndrome of Lin and Gettig|Lin-Gettig syndrome|craniosynostosis-mental retardation syndrome of Lin and Gettig MESH:C565664|GARD:0010282|UMLS:C1857473|OMIM:218649 owl:Class MONDO:0014319 biolink:NamedThing renal hypodysplasia/aplasia 2 Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. tmpak2llvmy_mondo_relaxed.owl renal agenesis (disease) caused by mutation in FGF20|FGF20 renal agenesis (disease)|renal hypodysplasia/aplasia type 2|RHDA2|renal hypodysplasia/aplasia 2 OMIM:615721|UMLS:C3810359 owl:Class MONDO:0015447 biolink:NamedThing differentiated thyroid carcinoma Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. tmpak2llvmy_mondo_relaxed.owl papillary or follicular thyroid carcinoma|well differentiated thyroid gland carcinoma|well differentiated thyroid carcinoma|thyroid gland differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid gland cancer|thyroid gland well differentiated carcinoma|well-differentiated thyroid carcinoma|differentiated thyroid gland carcinoma|differentiated thyroid carcinoma|differentiated thyroid cancer DOID:0080525|ICD10:C73|Orphanet:146|ONCOTREE:WDTC|NCIT:C7153|UMLS:C1337013|EFO:1002017 owl:Class CL:0002242 biolink:NamedThing nucleate cell A cell containing at least one nucleus. tmpak2llvmy_mondo_relaxed.owl FMA:67513 tmeehan 2010-09-07T03:32:33Z cell owl:Class GO:0015844 biolink:NamedThing monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008880 biolink:NamedThing Bowen syndrome of multiple malformations tmpak2llvmy_mondo_relaxed.owl Bowen syndrome|Bowen syndrome of multiple malformations Orphanet:1271|UMLS:C1859404|MESH:C538164|OMIM:211200 owl:Class UBERON:0000332 biolink:NamedThing yellow bone marrow bone marrow in which the fat cells predominate in the meshes of the reticular network. tmpak2llvmy_mondo_relaxed.owl medulla ossium flava|fat marrow|yellow marrow owl:Class UBERON:0010135 biolink:NamedThing sensory circumventricular organ A circumventricular organ that is capable of monitoring the levels of substances to the cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl humerosensory system organ|sensory CVOs|sensitive circumventricular organs|sensory circumventricular organs|humerosensory system|sensitive organs|humerosensory circumventricular organ owl:Class UBERON:0005408 biolink:NamedThing circumventricular organ Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. tmpak2llvmy_mondo_relaxed.owl CVO|circumventricular organ|circumventricular organ of neuraxis owl:Class MONDO:0014663 biolink:NamedThing Silver-Russell syndrome 3 tmpak2llvmy_mondo_relaxed.owl GRDF|SRS3|growth restriction, severe, with distinctive facies UMLS:C4225307|OMIM:616489 owl:Class MONDO:0019365 biolink:NamedThing scrub typhus Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. tmpak2llvmy_mondo_relaxed.owl Japanese river fever|Kedani fever|tsutsugamushi|scrub mite-borne typhus|typhus fever due to Rickettsia tsutsugamushi|chigger-borne typhus|tsutsugamushi fever|scrub (mite-borne) typhus|Mite-borne typhus|tsutsugamushi disease|Mite-borne rickettsiosis|tropical typhus|chigger-borne rickettsiosis MESH:D012612|ICD9:081.2|DOID:13371|ICD10:A75.3|EFO:0007480|UMLS:C0036472|Orphanet:83317|MedDRA:10039766|SCTID:271425001 owl:Class HP:0010988 biolink:NamedThing Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023611 The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. peter 2011-02-08T01:59:22Z human_phenotype owl:Class HP:0003256 biolink:NamedThing Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. tmpak2llvmy_mondo_relaxed.owl Coagulopathy MSH:D001778|SNOMEDCT_US:64779008|SNOMEDCT_US:362970003|UMLS:C0005779 HP:0001925 human_phenotype owl:Class MONDO:0040728 biolink:NamedThing Campylobacter fetus infectious disease tmpak2llvmy_mondo_relaxed.owl infection by Campylobacter fetus|infection by vibrio fetus|infection caused by vibrio fetus|infection caused by Campylobacter fetus UMLS:C0275979|SCTID:111835002 owl:Class MONDO:0022691 biolink:NamedThing cerebello-olivary atrophy tmpak2llvmy_mondo_relaxed.owl Cerebelloolivary atrophy GARD:0001198 https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy owl:Class MONDO:0011202 biolink:NamedThing RHYNS syndrome RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa syndrome|RHYNS syndrome|retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome MESH:C537612|Orphanet:140976|SCTID:723999009|OMIM:602152|GARD:0009681|UMLS:C1865794 owl:Class NCBITaxon:272561 biolink:NamedThing Chlamydia trachomatis D/UW-3/CX tmpak2llvmy_mondo_relaxed.owl Chlamydia trachomatis str. D/UW-3/CX|Chlamydia trachomatis strain D/UW-3/CX GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010893 biolink:NamedThing malignant hyperthermia, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl malignant hyperthermia, susceptibility to, 4|malignant hyperpyrexia susceptibility type 4|MHS4|malignant hyperthermia susceptibility type 4|Mhs4|malignant hyperthermia, susceptibility to, type 4 MESH:C535697|GARD:0003366|OMIM:600467 https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 owl:Class MONDO:0001918 biolink:NamedThing epiphora due to excess lacrimation tmpak2llvmy_mondo_relaxed.owl UMLS:C0155233|SCTID:31788005|DOID:14244|ICD10:H04.21|ICD9:375.21 owl:Class MONDO:0001793 biolink:NamedThing excessive tearing Diseases of the lacrimal apparatus. tmpak2llvmy_mondo_relaxed.owl lacrimal apparatus disease|diseases, lacrimal apparatus|epiphora|apparatus disease, lacrimal|apparatus diseases, lacrimal|disease, lacrimal apparatus|watering eye|excessive tear production SCTID:193982009|MESH:D007766|DOID:13757|ICD10:H04.20|UMLS:C0152227|ICD9:375.2|ICD10:H04.2|ICD9:375.20 owl:Class MONDO:0002874 biolink:NamedThing testicular pure germ cell tumor A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. tmpak2llvmy_mondo_relaxed.owl testicular Pure germ cell tumor NCIT:C39915|DOID:4087|UMLS:C1514608 owl:Class MONDO:0017575 biolink:NamedThing mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. tmpak2llvmy_mondo_relaxed.owl thymidine phosphorylase deficiency|MNGIE|myoneurogastrointestinal encephalopathy syndrome|MNGIE syndrome|Mitochondrial neurogastrointestinal encephalopathy|POLIP|mitochondrial Neurogastrointestingal encephalopathy|mitochondrial neurogastrointestinal encephalopathy syndrome|oculogastrointestinal muscular dystrophy|OGIMD|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction GARD:0009920|NCIT:C119678|MESH:C537477|ICD10:G71.3|Orphanet:298|SCTID:718214007 https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome owl:Class CL:1000325 biolink:NamedThing jejunal goblet cell A goblet cell that is part of the epithelium proper of jejunum. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium proper of jejunum FMA:263065 cell owl:Class MONDO:0002824 biolink:NamedThing extrinsic cardiomyopathy A cardiomyopathy that is not due to abnormalities in heart muscle cells. tmpak2llvmy_mondo_relaxed.owl secondary cardiomyopathy SCTID:195029002|ICD9:425.8|DOID:3978 owl:Class OBO:CHR_9606-chr2q31.2 biolink:NamedThing chr2q31.2 (Human) tmpak2llvmy_mondo_relaxed.owl 179700000 177100000 hg38 owl:Class UBERON:0009846 biolink:NamedThing embryonic cloacal epithelium An epithelium that is part of a embryonic cloaca. tmpak2llvmy_mondo_relaxed.owl cloacal epithelium owl:Class UBERON:0009521 biolink:NamedThing anal membrane endodermal component An endoderm that is part of a anal region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015588 biolink:NamedThing limbic encephalitis Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. tmpak2llvmy_mondo_relaxed.owl ICD9:323.9|SCTID:230192003|Orphanet:163892|GARD:0008742|MESH:D020363 https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis owl:Class MONDO:0016989 biolink:NamedThing Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. tmpak2llvmy_mondo_relaxed.owl Fuchs heterochromic cyclitis|FHI|Fuchs heterochromic uveitis GARD:0006791|ICD10:H20.8|Orphanet:263479|MedDRA:10017406 owl:Class GO:0071900 biolink:NamedThing regulation of protein serine/threonine kinase activity Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004629 biolink:NamedThing subacute delirium tmpak2llvmy_mondo_relaxed.owl SCTID:191507002|DOID:8645|ICD9:293.1 owl:Class MONDO:0045057 biolink:NamedThing delirium A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) tmpak2llvmy_mondo_relaxed.owl OBS syndrome|organic brain syndrome UMLS:C0011206|ICD9:293.0|SCTID:2776000|EFO:0009267|MESH:D003693 owl:Class MONDO:8000014 biolink:NamedThing familial antiphospholipid syndrome Autosomal dominant form of antiphospholipid syndrome. tmpak2llvmy_mondo_relaxed.owl antiphospholipid syndrome, familial|Hughes syndrome MESH:C531622|OMIM:107320|UMLS:C2930802|GARD:0005824 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010700 biolink:NamedThing optic atrophy--spastic paraplegia syndrome tmpak2llvmy_mondo_relaxed.owl optic atrophy--spastic paraplegia syndrome UMLS:C1839565|OMIM:311100|MESH:C564084 owl:Class UBERON:0015453 biolink:NamedThing subcutaneous lymph node A lymph node that is part of a hypodermis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013289 biolink:NamedThing agammaglobulinemia 4, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. tmpak2llvmy_mondo_relaxed.owl AGM4|BLNK autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to Blnk defect|autosomal agammaglobulinemia caused by mutation in BLNK|agammaglobulinemia 4, autosomal recessive UMLS:C3150752|OMIM:613502 owl:Class MONDO:0015085 biolink:NamedThing bathing suit ichthyosis Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. tmpak2llvmy_mondo_relaxed.owl BSI Orphanet:100976|SCTID:725588002|UMLS:C4511230|ICD10:Q80.2 owl:Class MONDO:0014010 biolink:NamedThing autosomal recessive congenital ichthyosis 9 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis 9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive type 9|ARCI9|ichthyosis, congenital, autosomal recessive 9 DOID:0060718|UMLS:C3554349|OMIM:615023|ICD10:Q80.2 owl:Class HGNC:9678 biolink:NamedThing PTPRO tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:23443 biolink:NamedThing cyclic amide tmpak2llvmy_mondo_relaxed.owl cyclic amides|cyclic amide owl:Class MONDO:0001332 biolink:NamedThing palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. tmpak2llvmy_mondo_relaxed.owl Hench's syndrome|Hench-Rosenberg syndrome ICD9:719.32|ICD9:719.33|MESH:C538103|SCTID:50442003|ICD9:719.3|GARD:0007304|ICD9:719.36|ICD10:M12.30|DOID:1166|ICD9:719.38|ICD9:719.31|ICD10:M12.3|ICD9:719.30|UMLS:C0085574 owl:Class MONDO:0100294 biolink:NamedThing mitochondrial complex II deficiency, nuclear type 1 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex 2 deficiency|complex 2 mitochondrial respiratory chain deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme Q reductase deficiency|isolated succinate-CoQ reductase deficiency|succinate dehydrogenase deficiency|mitochondrial respiratory chain complex II deficiency|mitochondrial complex II deficiency, nuclear type 1|mitochondrial complex II deficiency|succinate CoQ reductase deficiency|isolated mitochondrial respiratory chain complex II deficiency OMIM:252011|Orphanet:3208|MESH:C565375|SCTID:124165006|DOID:0060537|GARD:0005053|ICD9:277.6|ICD10:G71.3 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency owl:Class NCBITaxon:11071 biolink:NamedThing Japanese encephalitis virus group tmpak2llvmy_mondo_relaxed.owl Japanese encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005048 biolink:NamedThing mucosa of uterine tube A mucosa that is part of a fallopian tube [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl fallopian tube organ mucosa|mucous membrane of uterine tube|tunica mucosa tubae uterinae|uterine tube organ mucosa|mucosa of fallopian tube|mucous membrane of fallopian tube|uterine tube mucous membrane|uterine tubal mucosa|fallopian tube mucosa|mucosa of oviduct|organ mucosa of fallopian tube|fallopian tube mucous membrane|organ mucosa of uterine tube|uterine tube mucosa of organ|mucosa of organ of fallopian tube|uterine tube mucosa|mucosa of organ of uterine tube|fallopian tube mucosa of organ owl:Class GO:0031401 biolink:NamedThing positive regulation of protein modification process Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpak2llvmy_mondo_relaxed.owl upregulation of protein modification|activation of protein modification|stimulation of protein modification|up-regulation of protein modification|up regulation of protein modification owl:Class MONDO:0007603 biolink:NamedThing Felty syndrome Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. tmpak2llvmy_mondo_relaxed.owl Felty's syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia|splenomegaly-neutropenia-rheumatoid arthritis syndrome|rheumatoid arthritis, splenomegaly and neutropenia|familial Felty's syndrome|Felty syndrome SCTID:57160007|OMIM:134750|ICD10:M05.0|EFO:0007269|Orphanet:47612|MedDRA:10016386|ICD10:M05.00|GARD:0008234|NCIT:C84712|UMLS:C0015773|DOID:11042|ICD9:714.1|MESH:D005258 https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome owl:Class MONDO:0016485 biolink:NamedThing Usher syndrome type 3 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. tmpak2llvmy_mondo_relaxed.owl USH3|Usher syndrome type 3 GARD:0005442|Orphanet:231183|NCIT:C126329|DOID:0110828|ICD10:H35.5|UMLS:C1568248 owl:Class MONDO:0017833 biolink:NamedThing primary hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl clonal hypereosinophilic syndrome|primary HES|neoplastic hypereosinophilic syndrome|HES-M|HES-N Orphanet:314950|ICD10:D47.5|UMLS:CN203808 owl:Class NCBITaxon:2732545 biolink:NamedThing Amarillovirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732462 biolink:NamedThing Flasuviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008874 biolink:NamedThing pulmonary acinus The part of the airway consisting of a respiratory bronchiole and all of its branches tmpak2llvmy_mondo_relaxed.owl acinus pulmonaris|primary pulmonary lobule|respiratory lobule|lobulus pulmonis primarius|arbor alveolaris owl:Class MONDO:0007317 biolink:NamedThing chlorpropamide-alcohol flushing tmpak2llvmy_mondo_relaxed.owl CPAF|chlorpropamide-alcohol flushing|CHLORPROPAMIDE-alcohol flushing OMIM:118430|UMLS:C1861630 owl:Class MONDO:0032723 biolink:NamedThing immunodeficiency 60 tmpak2llvmy_mondo_relaxed.owl IMMUNODEFICIENCY 60|Immunodeficiency and Autoimmunity, Bach2-Related|IMD60 OMIM:618394 owl:Class UBERON:0001172 biolink:NamedThing hepatic acinus The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. tmpak2llvmy_mondo_relaxed.owl liver acinus|portal acinus owl:Class MONDO:0016775 biolink:NamedThing lichen planus pemphigoides Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid. tmpak2llvmy_mondo_relaxed.owl LP pemphigoides Orphanet:254478|SCTID:238653005|ICD10:L43.8|GARD:0012677|UMLS:C0406369 https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides owl:Class UBERON:0001788 biolink:NamedThing outer limiting layer of retina The row of jucntional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier[MP]. tmpak2llvmy_mondo_relaxed.owl stratum limitans externum (retina)|external limiting lamina of retina|blood retina barrier|outer limiting membranes|stratum limitans externum retinae|retina external limiting lamina|outer limiting membrane of retina|outer limiting membrane|external limiting membrane|retina outer limiting membrane|external limiting membrane of retina|BRB owl:Class MONDO:0032581 biolink:NamedThing nephrotic syndrome, type 18 tmpak2llvmy_mondo_relaxed.owl NPHS18|NEPHROTIC SYNDROME, TYPE 18 OMIM:618177|DOID:0080393 owl:Class MONDO:0017439 biolink:NamedThing tetra-amelia tmpak2llvmy_mondo_relaxed.owl total amelia|Tetraamelia, autosomal recessive|tetra-amelia syndrome|tetra-amelia, autosomal recessive ICD10:Q73.0|GARD:0005148|MESH:C536498|SCTID:702313004|Orphanet:294971|HP:0003057 owl:Class CHEBI:50334 biolink:NamedThing pyridinium ion tmpak2llvmy_mondo_relaxed.owl pyridinium ions owl:Class MONDO:0014647 biolink:NamedThing developmental and epileptic encephalopathy, 50 tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation, type Iz|epileptic encephalopathy, early infantile, 50|CDG1Z|DEE50|carbohydrate deficient glycoprotein syndrome type Iz|CAD-CDG|CDG-Iz|EIEE50|congenital disorder of glycosylation type 1z|congenital disorder of glycosylation, type Iz, formerly|CDG syndrome type Iz OMIM:616457|ICD10:E77.8|UMLS:C4225320|Orphanet:448010|DOID:0080419 owl:Class MONDO:0003635 biolink:NamedThing sebaceous breast carcinoma A very rare breast adenocarcinoma with sebaceous differentiation. tmpak2llvmy_mondo_relaxed.owl sebaceous adenocarcinoma of breast|sebaceous breast carcinoma|breast sebaceous adenocarcinoma DOID:5760|NCIT:C40369|UMLS:C1519207 owl:Class GO:0016248 biolink:NamedThing channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a channel. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006779 biolink:NamedThing heart aneurysm A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. tmpak2llvmy_mondo_relaxed.owl cardiac aneurysm ICD10:I25.3|MESH:D006322|MedDRA:10002350|EFO:1000959|SCTID:65340007|ICD9:414.19|ICD9:414.10|UMLS:C0018789|DOID:9768 owl:Class MONDO:0021634 biolink:NamedThing epithelial skin neoplasm A epithelial neoplasm that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl skin epithelium neoplasm|epithelial skin neoplasm|epithelial skin tumor|zone of skin epithelial neoplasm|skin epithelium tumor UMLS:C0345976|NCIT:C7342 owl:Class MONDO:0014289 biolink:NamedThing macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 41|mental retardation, autosomal recessive type 41|mental retardation, autosomal recessive 41|intellectual disability, autosomal recessive type 41|MRT41 ICD10:Q75.3|Orphanet:397612|UMLS:C3810225|OMIM:615637 owl:Class MONDO:0008396 biolink:NamedThing oculodental syndrome, Rutherfurd type Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl gingival hypertrophy corneal dystrophy|Rutherfurd syndrome|gingival hypertrophy-corneal dystrophy|gingival Hypertrophy with corneal dystrophy|corneal dystrophy with gum Hypertrophy|corneal dystrophy with gum hypertrophy ICD9:759.89|OMIM:180900|UMLS:C0796140|GARD:0000212|Orphanet:2709|SCTID:699754008|ICD10:Q87.8|MESH:C537732 owl:Class MONDO:0012904 biolink:NamedThing epilepsy, progressive myoclonic, 1B Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic, 1B|epilepsy, progressive myoclonic, type 1B|progressive myoclonic epilepsy caused by mutation in PRICKLE1|PRICKLE1 progressive myoclonic epilepsy|EPM1B SCTID:702326000|DOID:0111448|OMIM:612437|ICD9:345.10|MESH:C580388|UMLS:C2676254 owl:Class GO:0032987 biolink:NamedThing protein-lipid complex disassembly The disaggregation of a protein-lipid complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032984 biolink:NamedThing protein-containing complex disassembly The disaggregation of a protein-containing macromolecular complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl protein complex disassembly|cellular macromolecule complex disassembly|macromolecule complex disassembly owl:Class CL:1001320 biolink:NamedThing urethra cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001123 cell owl:Class UBERON:0014777 biolink:NamedThing spinal neuromere A neuromere that is part of the presumptive spinal cord tmpak2llvmy_mondo_relaxed.owl spinal cord segment|spinal neuromeres|spinal cord metameric segment owl:Class MONDO:0019486 biolink:NamedThing myoclonic epilepsy of infancy tmpak2llvmy_mondo_relaxed.owl benign myoclonic epilepsy of infancy|benign myoclonus epilepsy of infancy UMLS:CN206266|ICD10:G40.3|Orphanet:86909 owl:Class MONDO:0016610 biolink:NamedThing idiopathic eosinophilic myositis tmpak2llvmy_mondo_relaxed.owl idiopathic eosinophilia-associated myopathy ICD10:M60.8|Orphanet:247724 owl:Class NCBITaxon:35789 biolink:NamedThing Rickettsia helvetica tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:8102245 ncbi_taxonomy owl:Class MONDO:0045011 biolink:NamedThing keratinization disease tmpak2llvmy_mondo_relaxed.owl disorder of keratinization|keratinization disease SCTID:277905003|UMLS:C0475811 owl:Class HGNC:3571 biolink:NamedThing ACSL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018095 biolink:NamedThing Weaver-Williams syndrome Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN204431|Orphanet:3448 owl:Class ENVO:01001305 biolink:NamedThing vegetated area A vegetated area is a geographic feature which has ground cover dominated by plant communities. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007216 biolink:NamedThing brachydactyly type A2 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. tmpak2llvmy_mondo_relaxed.owl Brachymesophalangy 2|BDA2|brachydactyly, type A2|brachymesophalangy II|brachydactyly, Mohr-Wriedt type|Mohr-Wriedt type brachydactyly|Brachymesophalangy type 2 Orphanet:93396|GARD:0000979|GARD:0000989|MESH:C537089|DOID:0110965|OMIM:112600|ICD10:Q73.8|SCTID:720569006 https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2|https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 owl:Class UBERON:0001498 biolink:NamedThing muscle of pes Any muscle organ that is part of a pes [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foot muscle|muscle of foot|foot muscle organ|muscle organ of foot owl:Class GO:0016829 biolink:NamedThing lyase activity Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. tmpak2llvmy_mondo_relaxed.owl other lyase activity owl:Class MONDO:0020437 biolink:NamedThing atrial septal defect, ostium primum type Atrioventricular septal defect with communication at the atrial level only. tmpak2llvmy_mondo_relaxed.owl incomplete atrioventricular septal defect with isolated atrial component|PAVC|partial atrioventricular septal defect: ostium primum type|ASD, ostium primum type|ASD ostium primum type|partial atrioventricular canal defect with isolated atrial component|PAVSD|incomplete atrioventricular canal defect with isolated atrial component|ostium primum ASD|primum atrial septal defect|partial atrioventricular septal defect|atrial septal defect ostium primum|atrioventricular defect with atrial shunting only MESH:D006344|UMLS:C0031192|ICD10:Q21.2|GARD:0010695|MESH:C548006|Orphanet:99106|SCTID:17718000 https://github.com/monarch-initiative/mondo/issues/3879 owl:Class UBERON:0004780 biolink:NamedThing gastrointestinal system lamina propria A lamina propria that is part of a gastrointestinal system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017837 biolink:NamedThing multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl UMLS:CN203814|ICD10:G37.8|Orphanet:3151 owl:Class MONDO:0008900 biolink:NamedThing camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. tmpak2llvmy_mondo_relaxed.owl camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia|camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia MESH:C537974|ICD10:Q87.2|GARD:0001064|Orphanet:1321|OMIM:211930 owl:Class NCBITaxon:12542 biolink:NamedThing Omsk hemorrhagic fever virus tmpak2llvmy_mondo_relaxed.owl Omsk haemorrhagic fever virus OHF|Omsk haemorrhagic fever virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024882 biolink:NamedThing secondary neoplasm A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpak2llvmy_mondo_relaxed.owl secondary neoplasm|secondary tumor NCIT:C36255 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0017109 biolink:NamedThing isolated partial cerebellar vermis agenesis tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|Orphanet:269209 owl:Class MONDO:0017107 biolink:NamedThing isolated cerebellar vermis agenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:269203|ICD10:Q04.3 owl:Class MONDO:0010094 biolink:NamedThing spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl scoliosis, congenital with unilateral unsegmented bar|Synspondylism congenital|Synspondylism, congenital|vertebral fusion with carpal coalition|congenital scoliosis with unilateral unsegmented bar|SCT|congenital synspondylism|spondylocarpotarsal synostosis|spondylocarpotarsal synostosis syndrome|spondylocarpotarsal syndrome|Synspondylism|scoliosis, congenital, with unilateral unsegmented Bar MESH:C535780|Orphanet:3275|UMLS:C1848934|GARD:0004974|GARD:4974|DOID:0090116|ICD9:758.89|ICD10:Q76.4|OMIM:272460|SCTID:702351004 https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome owl:Class CHEBI:64909 biolink:NamedThing poison Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. tmpak2llvmy_mondo_relaxed.owl poisons|toxic substance|poisonous substance|poisonous substances|toxic agents|toxic agent|poisonous agents|toxic substances|poisonous agent owl:Class MONDO:0008121 biolink:NamedThing onychogryposis, pedal, with keratosis plantaris and coarse hair tmpak2llvmy_mondo_relaxed.owl onychogryposis, pedal, with keratosis plantaris and coarse hair MESH:C563506|UMLS:C1833997|OMIM:164680 owl:Class HP:0100034 biolink:NamedThing Motor tics Movement-based tics affecting discrete muscle groups. tmpak2llvmy_mondo_relaxed.owl UMLS:C0751900|MSH:D020323 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class MONDO:0032693 biolink:NamedThing Galloway-Mowat syndrome 8 tmpak2llvmy_mondo_relaxed.owl GAMOS8|GALLOWAY-MOWAT SYNDROME 8 OMIM:618349 owl:Class MONDO:0021176 biolink:NamedThing autoimmune hepatitis type 2 Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies. tmpak2llvmy_mondo_relaxed.owl type 2 AIH|autoimmune hepatitis type 2 SCTID:721712002|Orphanet:563581|UMLS:C4303163 owl:Class UBERON:0034907 biolink:NamedThing pineal parenchyma Parenchymal tissue that forms the pineal gland. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005158 biolink:NamedThing parenchyma of central nervous system The functional tissue of the central nervous system consisting of neurons and glial cells. tmpak2llvmy_mondo_relaxed.owl parenchyma of central nervous system|parenchyma of CNS|CNS parenchyma|central nervous system parenchyma owl:Class MONDO:0018787 biolink:NamedThing genetic cerebral small vessel disease tmpak2llvmy_mondo_relaxed.owl Orphanet:477754|UMLS:CN776941 owl:Class HGNC:7737 biolink:NamedThing NEFH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005648 biolink:NamedThing aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure. tmpak2llvmy_mondo_relaxed.owl rheumatic aortic regurgitation|rheumatic aortic insufficiency|rheumatic aortic valve regurgitation|aortic insufficiency|aortic incompetence|aortic regurgitation|Corrigan's disease|rheumatic aortic valve insufficiency MESH:D001022|SCTID:78031003|EFO:0007148|ICD9:395.1|NCIT:C51223|DOID:57|UMLS:C0003504|UMLS:C0155568|ICD10:I06.1|ICD9:396.3 owl:Class MONDO:0013461 biolink:NamedThing inosine triphosphatase deficiency An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. tmpak2llvmy_mondo_relaxed.owl inosine triphosphate pyrophosphohydrolase deficiency|inosine triphosphatase deficiency SCTID:238011005|ICD9:277.2|NCIT:C129974|MESH:C564127|UMLS:C0342800|OMIM:613850 owl:Class GO:0031304 biolink:NamedThing intrinsic component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to mitochondrial inner membrane owl:Class UBERON:0005106 biolink:NamedThing metanephric tubule A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021569 biolink:NamedThing Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. tmpak2llvmy_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy, autosomal dominant|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|EDMD2|EMD2|autosomal dominant limb-girdle muscular dystrophy type 1B|Hauptmann-Thannhauser muscular dystrophy|muscular dystrophy, limb-girdle, type 1B|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|scapuloilioperoneal atrophy with cardiopathy|proximal muscular dystrophy type 1B|benign scapuloperoneal muscular dystrophy with cardiomyopathy|limb-girdle muscular dystrophy type 1B|LGMD1B|limb-girdle muscular dystrophy due to lamin A/C deficiency|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|muscular dystrophy, proximal, type 1B|muscular dystrophy, limb-girdle type 1B|LMNA autosomal dominant limb-girdle muscular dystrophy GARD:0010230|OMIM:159001|ICD9:425.4|ICD10:G71.0|NCIT:C126745|SCTID:718178006|Orphanet:264|UMLS:C1834653|UMLS:C0410190|SCTID:240072005|DOID:0070247|MESH:C535898|DOID:0110301|OMIM:181350 https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b owl:Class MONDO:0020336 biolink:NamedThing autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant form of Emery-Dreifuss muscular dystrophy. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Emery-Dreifuss muscular dystrophy|EDMD2|Emery-Dreifuss muscular dystrophy, autosomal dominant ICD10:G71.0|Orphanet:98853|GARD:0002101 owl:Class MONDO:0020146 biolink:NamedThing major induction processes eye anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98554 owl:Class CHEBI:73182 biolink:NamedThing plant activator Any compound that protects plants by activating their defence mechanisms. tmpak2llvmy_mondo_relaxed.owl plant activators owl:Class CHEBI:33286 biolink:NamedThing agrochemical An agrochemical is a substance that is used in agriculture or horticulture. tmpak2llvmy_mondo_relaxed.owl agricultural chemicals|agrichemicals|agrichemical|agrochemicals owl:Class NCBITaxon:2732396 biolink:NamedThing Orthornavirae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022981 biolink:NamedThing die Smulders droog van dijk syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001857 https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome owl:Class UBERON:0004945 biolink:NamedThing submucosa of neck of urinary bladder A submucosa that is part of a neck of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neck of urinary bladder submucosa|neck of bladder submucosa|submucosa of neck of bladder|submucosa of vesical neck|urinary bladder neck submucosa|submucosa of urinary bladder neck|vesical neck submucosa|submucosa of bladder neck|bladder neck submucosa owl:Class UBERON:0004943 biolink:NamedThing submucosa of urinary bladder The submucous layer of the wall of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl submucous layer of urinary bladder|tela submucosa (vesica urinaria)|tela submucosa vesicae|urinary bladder submucosa|bladder submucosa|tela submucosa vesicae urinariae|submucosa of bladder owl:Class MONDO:0022173 biolink:NamedThing chromosome 11q trisomy tmpak2llvmy_mondo_relaxed.owl trisomy 11q|Duplication 11q MESH:C538297 owl:Class ENVO:00000134 biolink:NamedThing permafrost Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years. tmpak2llvmy_mondo_relaxed.owl Permafrost owl:Class ENVO:09000005 biolink:NamedThing amount of carbon atom in soil The amount of a carbon atom when measured in soil. tmpak2llvmy_mondo_relaxed.owl soil carbon atom amount owl:Class MONDO:0007998 biolink:NamedThing microspherophakia-metaphyseal dysplasia syndrome Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. tmpak2llvmy_mondo_relaxed.owl microspherophakia-metaphyseal dysplasia|Verloes Van Maldergem Marneffe syndrome|dominantly inherited bone dysplasia with severe eye involvement|Verloes-Van Maldergem-de Marneffe syndrome UMLS:C1834880|Orphanet:2551|MESH:C536540|GARD:0005481|OMIM:157151|ICD10:Q87.5 owl:Class MONDO:0020235 biolink:NamedThing lens size anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98652 owl:Class MONDO:0016621 biolink:NamedThing juvenile Huntington disease Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. tmpak2llvmy_mondo_relaxed.owl Huntington disease, juvenile onset|juvenile Huntington chorea|JHD|juvenile onset HD GARD:0010510|Orphanet:248111|SCTID:230299004|NCIT:C147072|ICD10:G10|UMLS:C0751208 https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease owl:Class SO:0002122 biolink:NamedThing immunoglobulin_gene A germline immunoglobulin gene. tmpak2llvmy_mondo_relaxed.owl All_IG_genes|IG_genes owl:Class MONDO:0100001 biolink:NamedThing alpha-gal syndrome An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal). tmpak2llvmy_mondo_relaxed.owl allergic galactose-alpha-1,3-galactose disease 2018-03-13 04:40:23+00:00 owl:Class UBERON:0006254 biolink:NamedThing ischial cartilage element A ischial endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl ischial cartilage condensation owl:Class CL:0002274 biolink:NamedThing histamine secreting cell A cell type that secretes histamine. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-10T03:04:42Z cell owl:Class MONDO:0018761 biolink:NamedThing SMARCA4-deficient sarcoma of thorax tmpak2llvmy_mondo_relaxed.owl SMARCA4-deficient thoracic sarcoma Orphanet:466962|UMLS:CN242100|DOID:0080532 owl:Class UBERON:0004927 biolink:NamedThing submucosa of cecum A submucosa that is part of a cecum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of caecum|submucosa of intestinum crassum caecum|intestinum crassum caecum submucosa|caecum submucosa|cecum submucosa owl:Class MONDO:0007565 biolink:NamedThing familial cylindromatosis tmpak2llvmy_mondo_relaxed.owl cylindromatosis, familial|Cylindromas, dermal eccrine|turban tumor|CYLD|turban tumor syndrome|turban tumors|'turban tumor' syndrome|Ancell-Spiegler syndrome|Ancell-Spiegler Cylindromas Orphanet:211|GARD:0009707|NCIT:C43352|MESH:C536611|OMIM:132700 owl:Class MONDO:0022863 biolink:NamedThing corneal crystals myopathy neuropathy tmpak2llvmy_mondo_relaxed.owl GARD:0001526 https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy owl:Class MONDO:0032891 biolink:NamedThing aneurysm, intracranial berry, 12 tmpak2llvmy_mondo_relaxed.owl ANIB12|ANEURYSM, INTRACRANIAL BERRY, 12 OMIM:618734 owl:Class MONDO:0017863 biolink:NamedThing digitalis poisoning Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. tmpak2llvmy_mondo_relaxed.owl Orphanet:31828|ICD10:T46.0|UMLS:CN203897|SCTID:12876009 owl:Class MONDO:0014525 biolink:NamedThing combined oxidative phosphorylation defect type 23 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 23|combined oxidative phosphorylation deficiency 23|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3|GTPBP3 combined oxidative phosphorylation deficiency|COXPD23 UMLS:C4015447|EFO:0009033|ICD10:I42.2|OMIM:616198|Orphanet:444013|DOID:0111500 owl:Class MONDO:0019105 biolink:NamedThing renal nutcracker syndrome A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices. tmpak2llvmy_mondo_relaxed.owl left renal vein entrapment syndrome|RNS|nutcracker syndrome GARD:0011971|UMLS:C3178770|MESH:D059228|SCTID:717267005|Orphanet:71273|EFO:1001838 owl:Class MONDO:0011883 biolink:NamedThing Curly hair - acral keratoderma - caries syndrome Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. tmpak2llvmy_mondo_relaxed.owl Curly hair - acral keratoderma - caries syndrome|Chacs|Chac syndrome|CHACS MESH:C536220|OMIM:607656|Orphanet:307766|ICD10:Q82.8|GARD:0010163 https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome owl:Class UBERON:2002260 biolink:NamedThing premaxillary-maxillary joint Joint that articulates the premaxilla and maxilla. Premaxillary-maxillary joint is paired. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011474 biolink:NamedThing progressive familial heart block type IB Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene. tmpak2llvmy_mondo_relaxed.owl heart block progressive familial type 1B|progressive familial heart block, type 1B|TRPM4 progressive familial heart block|PFHB1B|progressive familial heart block type 1B|progressive familial heart block, type IB|progressive familial heart block caused by mutation in TRPM4|Pfhbib ICD9:426.6|MESH:C567037|DOID:0111076|SCTID:698250005|OMIM:604559|GARD:0002610 owl:Class MONDO:0019490 biolink:NamedThing progressive familial heart block Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. tmpak2llvmy_mondo_relaxed.owl familial Lenègre disease|familial Lev-Lenègre disease|familial Lev disease|familial Lenegre disease|PFHB|hereditary bundle branch defect|familial Lev-Lenegre disease|familial progressive heart block|familial PCCD|familial progressive cardiac conduction defect OMIMPS:113900|UMLS:CN206278|SCTID:93130009|ICD10:I45.8|GARD:0010005|SCTID:698249005|ICD9:426.6|Orphanet:871|DOID:0111073 owl:Class UBERON:0008429 biolink:NamedThing cervical vertebral foramen A vertebral foramen that is part of a cervical vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010275 biolink:NamedThing spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia x-linked with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia|LKMCD|SEMD X-linked with mental deterioration|SEMD, X-linked, with mental deterioration|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration Orphanet:168448|UMLS:C1846148|ICD10:G11.4|MESH:C536671|OMIM:300232|OMIM:300660|Orphanet:83629|GARD:0004891|ICD10:Q77.7|MESH:C567065 owl:Class MONDO:0012818 biolink:NamedThing maturity-onset diabetes of the young type 9 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene. tmpak2llvmy_mondo_relaxed.owl PAX4 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 9|MODY type 9|MODY9|maturity-onset diabetes of the young (disease) caused by mutation in PAX4|maturity-onset diabetes of the young, type 9|type 9 maturity-onset diabetes of the young|MODY PAX4 related GARD:0010663|DOID:0111107|UMLS:C2677132|MESH:C567393|SCTID:609576002|OMIM:612225 https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9 owl:Class MONDO:0022642 biolink:NamedThing childhood carcinoid tumor A rare carcinoid tumor that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood carcinoid tumor|carcinoid tumor childhood|childhood carcinoid tumor (disease)|carcinoid tumor (disease) of childhood|pediatric carcinoid tumor (disease) GARD:0009315|UMLS:C3899673|NCIT:C118810 https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood owl:Class CL:0011012 biolink:NamedThing neural crest cell A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002625 biolink:NamedThing seminiferous tubule epithelial cell A cell of the seminiferous tubule epithelium. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-15T11:59:23Z cell owl:Class PATO:0002027 biolink:NamedThing osmolality tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043242 biolink:NamedThing negative regulation of protein-containing complex disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpak2llvmy_mondo_relaxed.owl inhibition of protein complex disassembly|negative regulation of protein complex disassembly|down regulation of protein complex disassembly|down-regulation of protein complex disassembly|downregulation of protein complex disassembly owl:Class MONDO:0020753 biolink:NamedThing Orthocoronavirinae infectious disease Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. tmpak2llvmy_mondo_relaxed.owl coronavirus infectious disease DOID:0080599 owl:Class MONDO:0005718 biolink:NamedThing Coronaviridae infectious disease Virus diseases caused by coronaviridae. tmpak2llvmy_mondo_relaxed.owl EFO:0007223|UMLS:C0010078 owl:Class MONDO:0100083 biolink:NamedThing hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. tmpak2llvmy_mondo_relaxed.owl familial thrombocytopenia with propensity to acute myelogenous leukemia|platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|FPD/AML syndrome|asprin-like platelet disorder|FPDMM|hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|familial platelet disorder with associated myeloid malignancy|platelet disorder, familial, with associated myeloid malignancy|familial platelet syndrome with predisposition to acute myelogenous leukemia|FPS/AML syndrome OMIM:601399 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011071 biolink:NamedThing hereditary thrombocytopenia and hematologic cancer predisposition syndrome The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. tmpak2llvmy_mondo_relaxed.owl hereditary thrombocytopenia and hematologic cancer predisposition syndrome SCTID:725034002|UMLS:C1832388|Orphanet:71290|ICD10:D69.4|GARD:0010352|MESH:C563324 owl:Class CL:1000320 biolink:NamedThing large intestine goblet cell A goblet cell that is part of the epithelium of large intestine. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of large intestine FMA:263054 cell owl:Class MONDO:0004759 biolink:NamedThing bestiality tmpak2llvmy_mondo_relaxed.owl zoophilia SCTID:81463002|DOID:9336|ICD9:302.1 owl:Class MONDO:0017946 biolink:NamedThing ABeta amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. tmpak2llvmy_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Iowa type|ABetaD23N amyloidosis|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWA, Iowa type ICD10:E85.4+|Orphanet:324708|ICD10:I68.0* owl:Class MONDO:0020443 biolink:NamedThing absence of innominate vein Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. tmpak2llvmy_mondo_relaxed.owl absence of brachiocephalic vein ICD10:Q26.8|Orphanet:99112 owl:Class MONDO:0014385 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. tmpak2llvmy_mondo_relaxed.owl AI2A5|SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta hypomaturation type IIA5|amelogenesis imperfecta type IIA5|amelogenesis imperfecta caused by mutation in SLC24A4|amelogenesis imperfecta, hypomaturation type, IIA5 OMIM:615887|DOID:0110063|ICD10:K00.5|UMLS:C4014578 owl:Class MONDO:0060763 biolink:NamedThing intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities|IDDSFTA OMIM:618092 owl:Class CHEBI:36054 biolink:NamedThing benzoate ester Esters of benzoic acid or substituted benzoic acids. tmpak2llvmy_mondo_relaxed.owl benzoic acid esters|benzoate ester|benzoate esters owl:Class UBERON:0001089 biolink:NamedThing sweat Secretion produced by a sweat gland. tmpak2llvmy_mondo_relaxed.owl skin exudate owl:Class MONDO:0019255 biolink:NamedThing sphingolipidosis An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. tmpak2llvmy_mondo_relaxed.owl sphingolipidoses Orphanet:79225|SCTID:238028008|DOID:1927|MESH:D013106|ICD10:E75.0|NCIT:C117254|ICD10:E75.2|ICD10:E75.1|UMLS:C0037899|GARD:0007672|ICD10:E75.3 https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis owl:Class MONDO:0012203 biolink:NamedThing familial hyperthyroidism due to mutations in TSH receptor Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. tmpak2llvmy_mondo_relaxed.owl resistance to thyroid stimulating hormone|hyperthyroidism, NONAUTOIMMUNE|hyperthyroidism, Nonautoimmune, autosomal dominant|Nonautoimmune hyperthyroidism|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|hyperthyroidism, congenital Nonautoimmune GARD:0002858|ICD10:E05.8|UMLS:C1836706|OMIM:609152|Orphanet:424|MESH:C563786 owl:Class UBERON:0003691 biolink:NamedThing epidural space The outermost part of the spinal canal. It is the space within the canal (formed by the surrounding vertebrae) lying outside the dura mater. tmpak2llvmy_mondo_relaxed.owl cavum extradurale|spatium epidurale|spatium extradurale|epidural cavity|extradural space|cavum epidurale owl:Class MONDO:0018052 biolink:NamedThing hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands. tmpak2llvmy_mondo_relaxed.owl Werner mesomelic syndrome Orphanet:3332|UMLS:CN204341|ICD10:Q74.8|SCTID:716741008 owl:Class MONDO:0008572 biolink:NamedThing tibia, hypoplasia or aplasia of, with polydactyly tmpak2llvmy_mondo_relaxed.owl THYP|tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|tibia, hypoplasia or aplasia of, with polydactyly OMIM:188740|DOID:0111564|MESH:C566046 owl:Class GO:1990204 biolink:NamedThing oxidoreductase complex Any protein complex that possesses oxidoreductase activity. tmpak2llvmy_mondo_relaxed.owl oxidation-reduction complex|redox complex owl:Class MONDO:0013941 biolink:NamedThing metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. tmpak2llvmy_mondo_relaxed.owl metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria UMLS:C3553958|OMIM:614875|Orphanet:99646 owl:Class MONDO:0005157 biolink:NamedThing lymphoid neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. tmpak2llvmy_mondo_relaxed.owl lymphocytic and plasma cell tumor|lymphoid and plasmacytic tumour|lymphoid and plasma cell tumour|lymphocytic tumor|lymphocytic and plasma cell tumour|lymphocytic neoplasm|lymphoid neoplasm|lymphoid tumor|lymphoid and plasma cell tumor|lymphocytic and plasmacytic neoplasm|lymphocytic and plasma cell neoplasm|lymphoid and plasmacytic neoplasm|lymphoid and plasmacytic tumor EFO:0001642|UMLS:C0598798|ICD9:200.7|ONCOTREE:LYMPH|NCIT:C7065 owl:Class HGNC:12633 biolink:NamedThing USP9Y tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007414 biolink:NamedThing nucleus of midbrain tegmentum A nucleus of brain that spans a midbrain tegmentum. tmpak2llvmy_mondo_relaxed.owl tegmental nucleus|tegmental nuclei owl:Class GO:0098657 biolink:NamedThing import into cell The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. tmpak2llvmy_mondo_relaxed.owl uptake owl:Class MONDO:0018468 biolink:NamedThing proton-pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. tmpak2llvmy_mondo_relaxed.owl PPI-REE|PPIRee|PPI-responsive esophageal eosinophilia Orphanet:411696|ICD10:K20 owl:Class HGNC:24036 biolink:NamedThing APC2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000851 biolink:NamedThing positive regulation of glucocorticoid secretion Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005597 biolink:NamedThing cystic renal cell carcinoma Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. tmpak2llvmy_mondo_relaxed.owl EFO:0006388|PMID:3739121 owl:Class HGNC:1965 biolink:NamedThing CHRND tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006595 biolink:NamedThing presumptive endoderm Presumptive structure of the blastula that will develop into endoderm. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007078 biolink:NamedThing pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). tmpak2llvmy_mondo_relaxed.owl Albright hereditary osteodystrophy|pseudohypoparathyroidism type 1A|pseudohypoparathyroidism, type IA|AHO-PHP syndrome Ia|AHO|pseudohypoparathyroidism, type 1A|PHP 1A|Albright hereditary osteodystrophy with multiple hormone resistance|Albright's hereditary osteodystrophy|Albright hereditary osteodystrophy-PHP syndrome Ia|PHP1A UMLS:C3494506|GARD:0005770|MESH:C537045|GARD:0007486|DOID:0080053|ICD9:275.49|Orphanet:79443|ICD10:E20.1|UMLS:C2931404|OMIM:103580|SCTID:58833000|NCIT:C129721 owl:Class MONDO:0035009 biolink:NamedThing isolated mesenteric vein thrombosis tmpak2llvmy_mondo_relaxed.owl Orphanet:583861 owl:Class MONDO:0006218 biolink:NamedThing gallbladder biliary intraepithelial neoplasia A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. tmpak2llvmy_mondo_relaxed.owl intracystic BilIN|gallbladder dysplasia|gallbladder BilIN|gallbladder intraepithelial neoplasia|gallbladder biliary intraepithelial neoplasia|intracystic biliary intraepithelial neoplasia EFO:1000265|UMLS:C1708174|NCIT:C43606 owl:Class HGNC:20407 biolink:NamedThing CALR3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008416 biolink:NamedThing palmoplantar keratoderma-sclerodactyly syndrome tmpak2llvmy_mondo_relaxed.owl HURIEZ syndrome|SCLEROTYLOSIS|HRZ|Scleroatrophic and keratotic dermatosis of limbs|Huriez syndrome|Tys|palmoplantar hyperkeratosis-sclerodactyly syndrome|Sclerotylosis|Scleroatrophic syndrome|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles MESH:C537526|SCTID:239076000|GARD:0008517|ICD9:757.39|OMIM:181600|ICD10:Q82.8|Orphanet:384 https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome owl:Class MONDO:0010285 biolink:NamedThing syndromic X-linked intellectual disability Abidi type X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked syndromic, Abidi type|syndromic X-linked intellectual disability Abidi type|ABIDI X-linked mental retardation syndrome|syndromic X-linked mental retardation Abidi type|X-linked intellectual disability, Abidi type|MRXSAB|intellectual disability, X-linked, syndromic, Abidi type|ABIDI X-linked intellectual disability syndrome|mental retardation, X-linked syndromic, Abidi type|intellectual disability X-linked Abidi type|mental retardation, X-linked, syndromic, Abidi type|short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes DOID:0060818|MESH:C535556|OMIM:300262|ICD10:Q87.8|UMLS:C1846056|Orphanet:85273|GARD:0009157 owl:Class MONDO:0014126 biolink:NamedThing Perrault syndrome 4 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. tmpak2llvmy_mondo_relaxed.owl PRLTS4|Perrault syndrome 4|Perrault syndrome caused by mutation in LARS2|LARS2 Perrault syndrome|Perrault syndrome type 4 UMLS:C3809105|OMIM:615300 owl:Class MONDO:0020806 biolink:NamedThing sinoatrial block A heart block that is initiated in the sinoatrial node. tmpak2llvmy_mondo_relaxed.owl SCTID:65778007 owl:Class HGNC:18791 biolink:NamedThing ZFP57 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025505 biolink:NamedThing mink viral enteritis A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route. tmpak2llvmy_mondo_relaxed.owl enteritis, infectious, of mink|mink viral enteritides|viral enteritides, mink|viral enteritis, mink|enteritis, mink viral|enteritides, mink viral UMLS:C1720999|MESH:D053489 owl:Class MONDO:0011817 biolink:NamedThing coronary heart disease, susceptibility to, 1 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. tmpak2llvmy_mondo_relaxed.owl coronary heart disease, susceptibility to, type 1|coronary artery disease caused by mutation in CX3CR1|coronary heart disease, susceptibility to, 1|CX3CR1 coronary artery disease|Chds1 UMLS:C1846418|OMIM:607339 owl:Class MONDO:0020629 biolink:NamedThing microcephaly, growth restriction and increased sister chromatid exchange tmpak2llvmy_mondo_relaxed.owl MGRISCE OMIMPS:210900 owl:Class MONDO:0015002 biolink:NamedThing developmental and epileptic encephalopathy, 49 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene. tmpak2llvmy_mondo_relaxed.owl DEE49|epileptic encephalopathy, early infantile, 49; EIEE49|DENND5A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 49|epileptic encephalopathy, early infantile, type 49|early infantile epileptic encephalopathy caused by mutation in DENND5A|EIEE49 UMLS:C4310635|OMIM:617281|DOID:0080441 owl:Class HGNC:1122 biolink:NamedThing BTD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009930 biolink:NamedThing pulmonary arteriovenous malformation Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. tmpak2llvmy_mondo_relaxed.owl pulmonary AV fistula|pulmonar arteriovenous aneurysm|pulmonary arteriovenous malformation (disease)|arteriovenous fistula of pulmonary vessels|pulmonary arteriovenous malformation|PAVM|pulmonary arteriovenous fistulas|pulmonary arteriovenous fistula|pulmonary arterio-veinous fistula pulmonary arteriovenous malformation (disease) UMLS:C0155675|NCIT:C99029|MESH:C562404|ICD10:Q25.7|HP:0006548|Orphanet:2038|MedDRA:10037332|SCTID:303070000|OMIM:265140|GARD:0004584 owl:Class UBERON:0036214 biolink:NamedThing rectosigmoid junction An anatomical junction that is between the sigmoid colon and rectum. tmpak2llvmy_mondo_relaxed.owl rectosigmoid region owl:Class MONDO:0014480 biolink:NamedThing 46,XY sex reversal 9 tmpak2llvmy_mondo_relaxed.owl 46,XY Sex reversal type 9|46,XY sex reversal 9|SRXY9|46,XY Sex reversal, Zfpm2-related|46,XY SEX reversal 9 DOID:0111770|UMLS:C4015129|OMIM:616067 owl:Class UBERON:0004340 biolink:NamedThing allantois A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. tmpak2llvmy_mondo_relaxed.owl allantoic bud owl:Class MONDO:0018689 biolink:NamedThing plasma cell leukemia An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. tmpak2llvmy_mondo_relaxed.owl plasma cell leukemia|plasmacytic leukemia|PCL|leukemia, plasma cell|leukemia plasmacytic MESH:D007952|GARD:0009373|DOID:9513|ICDO:9733/3|ICD9:203.10|Orphanet:454714|ICD10:C90.10|SCTID:95210003|ICD10:C90.1|NCIT:C3180|UMLS:C0023484|EFO:0006475|ICD9:203.1 https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia owl:Class MONDO:0005811 biolink:NamedThing infectious myxomatosis A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. tmpak2llvmy_mondo_relaxed.owl UMLS:C0027152|MESH:D009234|EFO:0007327 owl:Class MONDO:0044720 biolink:NamedThing cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia with bilateral vestibulopathy syndrome|CABV syndrome|CANVAS Orphanet:504476 owl:Class MONDO:0016136 biolink:NamedThing cerebellar ataxia with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:207028|ICD10:G60.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: cerebellar ataxia' MONDO_0000437 owl:Class MONDO:0019261 biolink:NamedThing infantile neuronal ceroid lipofuscinosis A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. tmpak2llvmy_mondo_relaxed.owl INCL|infantile NCL|Hagberg-Santavuori disease|Santavuori disease|Santavuori-Haltia disease SCTID:58258004|ICD10:E75.4|Orphanet:79263 owl:Class PATO:0000386 biolink:NamedThing hard A hardness quality of being rigid and resistant to pressure. tmpak2llvmy_mondo_relaxed.owl tough|impenetrable|firm owl:Class MONDO:0008954 biolink:NamedThing peroxisome biogenesis disorder 2A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 2|peroxisome biogenesis disorder 2A (Zellweger)|PBD2A OMIM:214110|DOID:0080477|UMLS:C3550273 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0014204 biolink:NamedThing basal ganglia calcification, idiopathic, 5 tmpak2llvmy_mondo_relaxed.owl basal ganglia calcification, idiopathic, 5|basal ganglia calcification, idiopathic, type 5|IBGC5 OMIM:615483|UMLS:C3809645 owl:Class MONDO:0005734 biolink:NamedThing dourine A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. tmpak2llvmy_mondo_relaxed.owl SCTID:15566009|UMLS:C0013076|EFO:0007240|MESH:D004313 owl:Class MONDO:0008825 biolink:NamedThing arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. tmpak2llvmy_mondo_relaxed.owl arthrogryposis, whistling face, and developintellectual disability|arthrogryposis, whistling face, and developmental retardation|lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|ILLUM syndrome|Illum syndrome|arthrogryposis multiplex congenita whistling face OMIM:208155|GARD:0000792|Orphanet:1150|SCTID:720514008|ICD10:Q87.8|UMLS:C1859711|MESH:C538401 owl:Class UBERON:0011342 biolink:NamedThing surface of mandible A anatomical surface that is part of a mandible. tmpak2llvmy_mondo_relaxed.owl mandibular surface owl:Class UBERON:0018260 biolink:NamedThing layer of muscle tissue Any organ component layer that consists of muscle tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:22986 biolink:NamedThing COL27A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007416 biolink:NamedThing Balkan nephropathy A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. tmpak2llvmy_mondo_relaxed.owl endemic nephropathy|aristolochic acid nephropathy|Balkan endemic nephropathy|Chinese herb endemic nephropathy|AAN|nephropathia epidemica|DEFN|Danubian endemic familial nephropathy|BEN ICD10:N15.0|GARD:0008576|UMLS:C4049993|UMLS:C0004698|EFO:0007164|ICD9:583.89|DOID:3052|SCTID:26121002|MESH:D001449|NCIT:C123025|OMIM:124100 owl:Class MONDO:0001085 biolink:NamedThing interstitial nephritis Inflammation of the renal tubules and supporting tissues of the kidney. tmpak2llvmy_mondo_relaxed.owl renal tubulo-interstitial disease|Tubulointerstitial nephritis UMLS:C0041349|ICD9:583.89|MESH:D009395|ICD10:N12|UMLS:C0027707|NCIT:C26834|SCTID:28689008|DOID:1063 owl:Class GO:0019211 biolink:NamedThing phosphatase activator activity Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001600 biolink:NamedThing mucocele of salivary gland A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction. tmpak2llvmy_mondo_relaxed.owl salivary gland mucocele|ranula|mucous retention cyst of salivary gland|salivary cyst DOID:12904|UMLS:C0026686|MESH:D011900|ICD10:K11.6|UMLS:C2242813|ICD9:527.6|SCTID:69825009 owl:Class GO:0033605 biolink:NamedThing positive regulation of catecholamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. tmpak2llvmy_mondo_relaxed.owl up-regulation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion|activation of catecholamine secretion|up regulation of catecholamine secretion owl:Class MONDO:0006042 biolink:NamedThing meningeal tuberculosis A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl TB meningitis NCIT:C84888|UMLS:C0041318|MESH:D014390|EFO:1000039|GARD:0007828 owl:Class MONDO:0005696 biolink:NamedThing central nervous system tuberculosis A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. tmpak2llvmy_mondo_relaxed.owl central nervous system tuberculosis|tuberculoma of brain|intracranial tuberculoma|tuberculosis of meninges and central nervous system|tuberculous abscess of brain UMLS:C2607948|DOID:1638|SCTID:186217006|ICD9:013.2|ICD9:013.20|UMLS:C0085388|EFO:0007199|ICD9:013.35 owl:Class MONDO:0030088 biolink:NamedThing diabetes mellitus, permanent neonatal 3 tmpak2llvmy_mondo_relaxed.owl Developmental Delay, Epilepsy, and Neonatal Diabetes 2|DIABETES MELLITUS, PERMANENT NEONATAL 3|PNDM3|diabetes mellitus, permanent neonatal 3 OMIM:618857 owl:Class MONDO:0001297 biolink:NamedThing cardiac tamponade Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. tmpak2llvmy_mondo_relaxed.owl rose's tamponade|pericardial tamponade NCIT:C50481|SCTID:35304003|MESH:D002305|UMLS:C0007177|ICD9:423.3|ICD10:I31.4|EFO:1001285|DOID:115 owl:Class MONDO:0004943 biolink:NamedThing orbit sarcoma A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. tmpak2llvmy_mondo_relaxed.owl sarcoma of the orbit|orbital sarcoma|orbit of skull sarcoma|sarcoma of orbit of skull|sarcoma of orbit DOID:9987|SCTID:699354006|NCIT:C6095|UMLS:C1335131 owl:Class HGNC:4428 biolink:NamedThing GOLGA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018846 biolink:NamedThing penile agenesis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. tmpak2llvmy_mondo_relaxed.owl congenital absence of penis|agenesis of the penis|Aphallus|micropenis|Aphallia|penis agenesia|penis agenesis MESH:C536649|NCIT:C99009|Orphanet:49|ICD10:Q55.5|SCTID:59981001|GARD:0004272 owl:Class UBERON:0032748 biolink:NamedThing sacral spinal cord ventral horn tmpak2llvmy_mondo_relaxed.owl sacral spinal cord anterior horn|sacral spinal cord ventral horn owl:Class GO:0045653 biolink:NamedThing negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. tmpak2llvmy_mondo_relaxed.owl downregulation of megakaryocyte differentiation|down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation owl:Class GO:0010186 biolink:NamedThing positive regulation of cellular defense response Any process that activates or increases the frequency, rate or extent of cellular defense response. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular defence response|upregulation of cellular defense response|up regulation of cellular defense response|up-regulation of cellular defense response|activation of cellular defense response|stimulation of cellular defense response owl:Class PR:000007858 biolink:NamedThing endothelial transcription factor GATA-2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007004 biolink:NamedThing type III hypersensitivity disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. tmpak2llvmy_mondo_relaxed.owl disorder of type III hypersensitivity|type III hypersensitivity|hypersensitivity reaction type III disease|immune complex disease|type III hypersensitivity reaction|type 3 hypersensitivity reaction UMLS:C0020951|NCIT:C114346|MESH:D007105|DOID:1557|EFO:1001222|MedDRA:10045265 owl:Class MONDO:0008741 biolink:NamedThing PAGOD syndrome PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. tmpak2llvmy_mondo_relaxed.owl Kennerknecht sorgo Oberhoffer syndrome|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|agonadism with multiple internal malformations|PAGOD syndrome|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome ICD10:Q87.8|Orphanet:991|SCTID:722132007|GARD:0003086|OMIM:202660|UMLS:C1859967|MESH:C537018 owl:Class MONDO:0015739 biolink:NamedThing adult-onset nemaline myopathy Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. tmpak2llvmy_mondo_relaxed.owl UMLS:C0546123|Orphanet:171442|ICD10:G71.2|GARD:0012824 https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy owl:Class UBERON:0006065 biolink:NamedThing hemal arch A vertebral arch that is attached to the ventral surface or the vertebral centrum and encloses and protects the caudal artery and vein ventrally. tmpak2llvmy_mondo_relaxed.owl chevron|ventral arch|haemal arch|ventral arcocentrum owl:Class MONDO:0000774 biolink:NamedThing autoimmune neuropathy An autoimmune form of peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl autoimmune peripheral neuropathy DOID:0040087|DOID:0060499 Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class GO:0006835 biolink:NamedThing dicarboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl sodium:dicarboxylate transport owl:Class UBERON:0001005 biolink:NamedThing respiratory airway An airway through which respiratory air passes in organisms. tmpak2llvmy_mondo_relaxed.owl airways|airway owl:Class MONDO:0021381 biolink:NamedThing neoplasm of pericardium A neoplasm (disease) that involves the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium tumor|neoplasm of pericardium|neoplasm of the pericardium|pericardial tumor|tumor of pericardium|pericardial neoplasm|pericardium neoplasm|tumor of the pericardium|pericardium neoplasm (disease) ICD9:239.89|NCIT:C4651|SCTID:126734005 owl:Class FOODON:03420177 biolink:NamedThing gluten Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0177 http://langual.org owl:Class FOODON:03420236 biolink:NamedThing protein extract, concentrate or isolate Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060562 biolink:NamedThing epithelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010125 biolink:NamedThing upper limb defect-eye and ear abnormalities syndrome Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. tmpak2llvmy_mondo_relaxed.owl thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness Orphanet:2489|ICD10:Q87.8|MESH:C564769|OMIM:274205|UMLS:C1848816 owl:Class MONDO:0011705 biolink:NamedThing lymphangioleiomyomatosis A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites. tmpak2llvmy_mondo_relaxed.owl lung lymphangioleiomyomatosis|LAM|lymphangio-myomatosis|lymphangioleiomyomatosis|lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis ICD10:J84.81|NCIT:C3725|ICDO:9174/1 https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis owl:Class UBERON:0001185 biolink:NamedThing right renal artery Renal artery that supplies the right kidney tmpak2llvmy_mondo_relaxed.owl right renal arterial tree owl:Class UBERON:0036186 biolink:NamedThing fibroelastic connective tissue tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015718 biolink:NamedThing monocarboxylic acid transport The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008708 biolink:NamedThing acrocallosal syndrome Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Joubert syndrome 12/15, digenic|Schinzel acrocallosal syndrome|ACS|Schinzel syndrome 1|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|ACLS|acrocallosal syndrome, Schinzel type|Joubert syndrome 12|acrocallosal syndrome SCTID:715951007|ICD10:Q04.0|GARD:0005721|OMIM:200990|NCIT:C84531|MESH:D055673|UMLS:C0796147|Orphanet:36|DOID:9250 owl:Class NCIT:C25218 biolink:NamedThing Intervention or Procedure tmpak2llvmy_mondo_relaxed.owl Intervention or Procedure owl:Class NCIT:C16203 biolink:NamedThing Clinical or Research Activity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012446 biolink:NamedThing seborrhea-like dermatitis with psoriasiform elements tmpak2llvmy_mondo_relaxed.owl seborrhea-like dermatitis with psoriasiform elements OMIM:610227|Orphanet:168606|MESH:C565217|UMLS:C1853258 owl:Class MONDO:0021582 biolink:NamedThing lentigo A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. tmpak2llvmy_mondo_relaxed.owl lentiginosis|lentigo|lentigines MESH:D007911|OMIM:150900|NCIT:C3159|SCTID:402624000 Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic. https://github.com/monarch-initiative/mondo/issues/3692 owl:Class MONDO:0054737 biolink:NamedThing Fraser syndrome 1 tmpak2llvmy_mondo_relaxed.owl Fraser syndrome|cryptophthalmos with Other malformations|cryptophthalmos-syndactyly syndrome|FRASRS1|Fraser syndrome 1 OMIM:219000|DOID:0111405 owl:Class MONDO:0012888 biolink:NamedThing sarcoidosis, susceptibility to, 2 Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. tmpak2llvmy_mondo_relaxed.owl sarcoidosis, susceptibility to, type 2|BTNL2 sarcoidosis|susceptibility to sarcoidosis 2|sarcoidosis caused by mutation in BTNL2|SS2|sarcoidosis, susceptibility to, 2 OMIM:612387 owl:Class CL:0002594 biolink:NamedThing smooth muscle cell of the umbilical artery A smooth muscle cell of the umbilical artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:48Z cell owl:Class UBERON:0010393 biolink:NamedThing T cell domain tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0015022 biolink:NamedThing increased combustibility An increase in combustibility. tmpak2llvmy_mondo_relaxed.owl combustible owl:Class MONDO:0011980 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, type 1|AITD1|autoimmune thyroid disease, susceptibility to, 1 UMLS:C1842446|OMIM:608173 owl:Class MONDO:0003769 biolink:NamedThing herpetic gastritis Gastritis resulting from herpes virus. tmpak2llvmy_mondo_relaxed.owl Herpesviridae caused viral gastritis|Herpesviridae viral gastritis DOID:6102|NCIT:C27341|UMLS:C1333996 owl:Class MONDO:0007665 biolink:NamedThing glaucoma 1, open angle, E A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. tmpak2llvmy_mondo_relaxed.owl glaucoma, primary open angle, adult-onset|primary open angle glaucoma|glaucoma, primary open angle|POAG|glaucoma 1, open angle, E|chronic simple glaucoma MESH:C562750|ICD10:H40.11|DOID:1070|NCIT:C35394|ICD10:H40.1|OMIM:137760|ICD9:365.11|SCTID:77075001 owl:Class MONDO:0021506 biolink:NamedThing benign neoplasm of spinal cord A benign neoplasm that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl benign spinal cord neoplasm|benign spinal cord tumor|benign tumor of spinal cord|spinal cord neoplasm, benign|benign tumor of the spinal cord|spinal cord benign neoplasm|benign neoplasm of the spinal cord SCTID:92405007|UMLS:C0154034|ICD10:D33.4|NCIT:C3627|ICD9:225.3 owl:Class MONDO:0008737 biolink:NamedThing congenital afibrinogenemia Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. tmpak2llvmy_mondo_relaxed.owl afibrinogenemia, congenital|hypofibrinogenemia, congenital|afibrinogenemia congenital|afibrinogenemia|factor I deficiency|fibrinogen deficiency|familial afibrinogenemia NCIT:C98130|OMIM:202400|SCTID:154818001|MESH:D000347|GARD:0005761|ICD10:D68.2|Orphanet:98880|DOID:2236 owl:Class MONDO:0014452 biolink:NamedThing familial dysfibrinogenemia Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. tmpak2llvmy_mondo_relaxed.owl familial dysfibrinogenemia|dysfibrinogenemia, familial|dysfibrinogenemia, congenital|congenital dysfibrinogenemia|dysfibrinogenemia|hypodysfibrinogenemia, congenital ICD9:286.3|SCTID:111589005|ICD10:D68.2|Orphanet:98881|GARD:0002004|UMLS:CN207171|NCIT:C131659|UMLS:C1260903|OMIM:616004 https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia owl:Class MONDO:0018218 biolink:NamedThing autosomal recessive cerebral atrophy tmpak2llvmy_mondo_relaxed.owl UMLS:CN204742|Orphanet:363969|ICD10:G31.8 owl:Class HGNC:5962 biolink:NamedThing IL10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013452 biolink:NamedThing multisystemic smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. tmpak2llvmy_mondo_relaxed.owl multisystemic smooth muscle dysfunction syndrome|mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834|ICD10:I73.8|UMLS:C3151201|GARD:0012811|Orphanet:404463 https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome owl:Class UBERON:0013751 biolink:NamedThing metaphysis of radius A metaphysis that is part of a radius bone. tmpak2llvmy_mondo_relaxed.owl radial metaphysis owl:Class UBERON:0003358 biolink:NamedThing epithelium of soft palate An epithelium that is part of a soft palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl soft palate epithelial tissue|epithelial tissue of soft palate|soft palate epithelium owl:Class MONDO:0023138 biolink:NamedThing Feingold trainer syndrome tmpak2llvmy_mondo_relaxed.owl unusual facies, cleft palate, short stature, and intellectual disability|unusual facies, cleft palate, short stature, and mental retardation GARD:0002282|UMLS:C2931126|MESH:C536179 https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome owl:Class MONDO:0027462 biolink:NamedThing autosomal recessive cutis laxa type 2C An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. tmpak2llvmy_mondo_relaxed.owl autosomal recessive cutis laxa type IIC|ARCL2C|cutis laxa, autosomal recessive, type 2C|cutis laxa, autosomal recessive, type IIC DOID:0070140|OMIM:617402|ICD10:Q82.8 owl:Class MONDO:0014963 biolink:NamedThing Shashi-Pena syndrome tmpak2llvmy_mondo_relaxed.owl SHAPNS|Shashi-Pena syndrome|Shashi-Pena syndrome; SHAPNS UMLS:C4310672|OMIM:617190 owl:Class MONDO:0019018 biolink:NamedThing Tako-tsubo cardiomyopathy Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. tmpak2llvmy_mondo_relaxed.owl left ventricular transient apical ballooning|ampulla cardiomyopathy|Tako-Tsubo syndrome|Tako tsubo syndrome|broken-heart syndrome|acute stress cardiomyopathy|apical ballooning syndrome|broken heart syndrome|transient left ventricular apical ballooning syndrome|ballooning cardiomyopathy|stress-induced cardiomyopathy|Takotsubo syndrome|stress cardiomyopathy|Takotsubo cardiomyopathy|transient antero-apical dyskinesia|ASC ICD9:429.83|Orphanet:66529|NCIT:C85181|EFO:1002000|UMLS:C1739395|SCTID:441541008|MESH:D054549|ICD10:I42.8|UMLS:CN205479|GARD:0009400 owl:Class MONDO:0005720 biolink:NamedThing cowpox A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. tmpak2llvmy_mondo_relaxed.owl yaba DOID:8956|ICD10:B08.010|UMLS:C0010232|ICD9:051.01|MESH:D015605|EFO:0007225|SCTID:70090004 owl:Class MONDO:0020593 biolink:NamedThing trichoblastoma A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty. tmpak2llvmy_mondo_relaxed.owl trichoepithelioma|Brooke's tumor|trichogenic trichoblastoma|trichoblastoma|trichoepithelioma, benign|trichogenic adnexal tumor ICDO:8100/0|NCIT:C27132 owl:Class MONDO:0015198 biolink:NamedThing aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl aniridia - ptosis - intellectual disability - familial obesity SCTID:720987001|Orphanet:1067|GARD:0000689|UMLS:CN226622 owl:Class MONDO:0020148 biolink:NamedThing syndromic aniridia A aniridia that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with aniridia|syndromic aniridia UMLS:CN227798|Orphanet:98557 owl:Class HGNC:9023 biolink:NamedThing PKP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007245 biolink:NamedThing nuclear complex of neuraxis Gray matter of the central nervous system which is a collection of clustered nuclei. tmpak2llvmy_mondo_relaxed.owl cluster of neural nuclei|neural nuclei|nuclear complex owl:Class MONDO:0001501 biolink:NamedThing retroperitoneal sarcoma A sarcoma involving a retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl sarcoma of retroperitoneal space|retroperitoneal sarcoma|retroperitoneal space sarcoma DOID:12341|NCIT:C4832|UMLS:C0585129|SCTID:307219002 owl:Class UBERON:0012167 biolink:NamedThing buccal fat pad The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. tmpak2llvmy_mondo_relaxed.owl cheek fat pad|Bichat's fat pad owl:Class SO:0001260 biolink:NamedThing sequence_collection A collection of discontinuous sequences. tmpak2llvmy_mondo_relaxed.owl sequence collection owl:Class HGNC:1512 biolink:NamedThing CASQ1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:51356 biolink:NamedThing penicillinate anion Any anion formed by loss of a proton from the carboxy group of a penicillin. tmpak2llvmy_mondo_relaxed.owl penicillin anion|penicillin|penicillin anions owl:Class MONDO:0013076 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl attention Deficit-hyperactivity disorder, susceptibility to, type 7|susceptibility to attention deficit-hyperactivity disorder 7|attention deficit-hyperactivity disorder, susceptibility to, 7|Adhd7 OMIM:613003 owl:Class MONDO:0011760 biolink:NamedThing Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpak2llvmy_mondo_relaxed.owl MPS V|MPS I S|mucopolysaccharidosis Is|MPS V, formerly|MPS1-S|MPS1S|mucopolysaccharidosis type 1S|MPSIS|Scheie syndrome|mucopolysaccharidosis type V|mucopolysaccharidosis type IS|mucopolysaccharidosis type V, formerly|MPS5, formerly NCIT:C61265|DOID:0060222|GARD:0012561|OMIM:607016|UMLS:C0026708|Orphanet:93474|ICD10:E76.0 https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome owl:Class MONDO:0018771 biolink:NamedThing congenital anomaly of ventricular septum A congenital heart malformation that involves the interventricular septum. tmpak2llvmy_mondo_relaxed.owl congenital heart malformation of interventricular septum|congenital ventricular septal anomaly|interventricular septum congenital heart malformation|congenital anomaly of interventricular communication|rare congenital anomaly of ventricular septum Orphanet:474347 owl:Class HGNC:12712 biolink:NamedThing VPS33B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000825 biolink:NamedThing positive regulation of androgen receptor activity Any process that activates or increases the frequency, rate or extent of androgen receptor activity. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051091 biolink:NamedThing positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpak2llvmy_mondo_relaxed.owl stimulation of transcription factor activity|upregulation of transcription factor activity|up-regulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|positive regulation of thyroid hormone receptor activity|positive regulation of sequence-specific DNA binding transcription factor activity|activation of transcription factor activity|up regulation of transcription factor activity|positive regulation of transcription factor activity owl:Class HGNC:3616 biolink:NamedThing FCGR2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012465 biolink:NamedThing hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. tmpak2llvmy_mondo_relaxed.owl GPI deficiency|PIGM-CDG|glycosylphosphatidylinositol biosynthesis defect 1|glycosylphosphatidylinositol deficiency|congenital disorder of glycosylation due to PIGM deficiency|GPID UMLS:C4510605|UMLS:C1853205|GARD:0009965|Orphanet:83639|SCTID:724344004|OMIM:610293|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency owl:Class HP:0003011 biolink:NamedThing Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. tmpak2llvmy_mondo_relaxed.owl Muscular abnormality UMLS:C4021745 HP:0040290|HP:0003708|HP:0003197 human_phenotype owl:Class MONDO:0009236 biolink:NamedThing Kandori fleck retina Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. tmpak2llvmy_mondo_relaxed.owl FLECK retina of KANDORI OMIM:228990|MESH:C562701|ICD10:H35.5|SCTID:765191009|Orphanet:99179|UMLS:C0271257 owl:Class MONDO:0016420 biolink:NamedThing familial flecked retinopathy tmpak2llvmy_mondo_relaxed.owl hereditary flecked retinopathy ICD10:H35.5|Orphanet:227786|UMLS:CN226924 owl:Class HP:0012535 biolink:NamedThing Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. tmpak2llvmy_mondo_relaxed.owl Abnormality of neurotransmitter metabolism UMLS:C4021083 peter 2013-12-15T10:12:31Z human_phenotype owl:Class HGNC:2383 biolink:NamedThing CRX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010446 biolink:NamedThing X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. tmpak2llvmy_mondo_relaxed.owl myopia, high, with nonprogressive cone dysfunction|Bornholm eye disease|bed|BORNHOLM eye disease MESH:C564092|UMLS:C3159311|SCTID:718718009|OMIM:300843|Orphanet:90001|ICD10:H53.8 owl:Class MONDO:0034142 biolink:NamedThing pancreatic agenesis-holoprosencephaly syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:556955 owl:Class MONDO:0003991 biolink:NamedThing villoglandular endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. tmpak2llvmy_mondo_relaxed.owl villoglandular endometrial endometrioid adenocarcinoma DOID:6777|NCIT:C27846|UMLS:C1336962 owl:Class MONDO:0008810 biolink:NamedThing familial apolipoprotein C-II deficiency tmpak2llvmy_mondo_relaxed.owl familial apoC-II deficiency|C-II Anapolipoproteinemia|Apoc2 deficiency|apolipoprotein C-II deficiency|hyperlipoproteinemia, type 1B|hyperlipoproteinemia, type IB|familial apolipoprotein C-II deficiency SCTID:33513003|OMIM:207750|Orphanet:309020|UMLS:C1720779|DOID:0111418|UMLS:C0268199|ICD10:E78.3 owl:Class MONDO:0017759 biolink:NamedThing disorder of catecholamine synthesis tmpak2llvmy_mondo_relaxed.owl ICD9:270.8|SCTID:237921002|Orphanet:309830|UMLS:C0342685 owl:Class MONDO:0019219 biolink:NamedThing inborn disorder of neurotransmitter metabolism and transport tmpak2llvmy_mondo_relaxed.owl disorder of neurotransmitter metabolism and transport UMLS:CN227586|Orphanet:79169 owl:Class UBERON:0006213 biolink:NamedThing carpus cartilage element A cartilaginous condensation that has the potential to develop into a carpal bone. tmpak2llvmy_mondo_relaxed.owl carpal cartilage condensation owl:Class UBERON:0004085 biolink:NamedThing labium majora One of the folds of skin which form the outer lips on both sides of the vaginal opening tmpak2llvmy_mondo_relaxed.owl labium majus pudendi|labia majorum|labium majorum|labium majus|labium majora owl:Class CL:1001567 biolink:NamedThing lung endothelial cell tmpak2llvmy_mondo_relaxed.owl pulmonary vessel endothelial cell|endothelial cell of lung cl owl:Class UBERON:0016520 biolink:NamedThing epithelium of female urethra A epithelium that is part of a female urethra. tmpak2llvmy_mondo_relaxed.owl female urethral epithelium|urethral epithelium of female owl:Class GO:0010769 biolink:NamedThing regulation of cell morphogenesis involved in differentiation Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000169 biolink:NamedThing microphthalmia, isolated, with cataract tmpak2llvmy_mondo_relaxed.owl OMIMPS:156850 owl:Class MONDO:0009908 biolink:NamedThing pterin-4 alpha-carbinolamine dehydratase 1 deficiency Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl hyperphenylalaninemia with primapterinuria|PCBD deficiency|hyperphenylalaninemia, Bh4-deficient, type D|CADH deficiency|HPABH4D|pterin-4 alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia due to dehydratase deficiency|tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|PCBD1 deficiency|dehydratase deficiency|PCD deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|pterin-4 alpha-carbinolamine dehydratase 1 deficiency|hyperphenylalaninemia, BH4-deficient, D|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency Orphanet:1578|GARD:0002843|SCTID:124646004|ICD9:277.6|MESH:C538382|ICD10:E70.1|OMIM:264070 This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. owl:Class MONDO:0018612 biolink:NamedThing congenital hypothyroidism Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth. tmpak2llvmy_mondo_relaxed.owl congenital hypothyroidism|congenital hypothyroidism not due to iodine deficiency|cretinism|fetal iodine deficiency syndrome|congenital iodine deficiency syndrome|congenital goiter|infantile hypothyroidism ICD10:E00.0|SCTID:217710005|ICD10:E00.1|ICD10:E03.1|MESH:D003409|ICD10:E03.0|ICD10:E00.9|ICD9:243|SCTID:190268003|NCIT:C26734|DOID:0050328|ICD9:269.3|Orphanet:442|ICD9:759.89|GARD:0001487|UMLS:C0010308|MedDRA:10010510|ICD10:E00.2 owl:Class MONDO:0019076 biolink:NamedThing circumscribed palmoplantar hypokeratosis Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin. tmpak2llvmy_mondo_relaxed.owl Orphanet:69744 owl:Class HGNC:1908 biolink:NamedThing VPS13A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008587 biolink:NamedThing tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi. tmpak2llvmy_mondo_relaxed.owl cartilaginous or bony projections into the tracheobronchial lumen|tracheopathia osteoplastica|tracheobronchopathia osteoplastica|tracheobronchopathia osteochondroplastica ICD10:J98.0|OMIM:189961|SCTID:54675009|GARD:0005235|Orphanet:3348|UMLS:CN204359|MESH:C536977 owl:Class MONDO:0007271 biolink:NamedThing familial cutaneous collagenoma Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl collagenoma, familial cutaneous GARD:0009799|OMIM:115250|MESH:C562925|SCTID:239139000|ICD10:L94.8|UMLS:C0406817|Orphanet:53296 https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma owl:Class MONDO:0018018 biolink:NamedThing wild type ATTR amyloidosis tmpak2llvmy_mondo_relaxed.owl Senile systemic amyloidosis|ATTRwt amyloidosis|ATTRwt-related amyloidosis|SSA|wild type ATTR-related amyloidosis UMLS:CN204235|UMLS:C0342623|ICD10:E85.8|SCTID:237877004|ICD9:277.39|Orphanet:330001 owl:Class HGNC:16691 biolink:NamedThing TUBGCP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001866 biolink:NamedThing bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. tmpak2llvmy_mondo_relaxed.owl bipolar 1 disorder|bipolar I disorder ICD9:296.50|DOID:14042|ICD9:296.7|SCTID:371596008 owl:Class CHEBI:62732 biolink:NamedThing aromatic ester An ester where the ester linkage is bonded directly to an aromatic system. tmpak2llvmy_mondo_relaxed.owl aromatic esters owl:Class HGNC:7944 biolink:NamedThing NPR2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010461 biolink:NamedThing Abnormality of the male genitalia Abnormality of the male genital system. tmpak2llvmy_mondo_relaxed.owl Abnormal male genitals|Abnormality of the male genitalia UMLS:C4023819 peter 2009-09-15T08:33:20Z human_phenotype owl:Class HP:0100324 biolink:NamedThing Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. tmpak2llvmy_mondo_relaxed.owl Progressive systemic scleroderma|Pseudoscleroderma UMLS:C1274865|SNOMEDCT_US:403524003|UMLS:C0011644|SNOMEDCT_US:89155008|MSH:D012594 A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. doelkens 2010-08-10T04:14:42Z HP:0001594|HP:0007426 human_phenotype owl:Class HP:0001072 biolink:NamedThing Thickened skin Laminar thickening of skin. tmpak2llvmy_mondo_relaxed.owl Thickened skin|Thick skin|Pachydermia|Diffusely thickened skin MEDDRA:10040936|SNOMEDCT_US:69943009|SNOMEDCT_US:17417006|UMLS:C4020878|UMLS:C0334008 HP:0007393 human_phenotype owl:Class HGNC:2213 biolink:NamedThing COL6A3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0036211 biolink:NamedThing protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpak2llvmy_mondo_relaxed.owl protein modification owl:Class PATO:0001563 biolink:NamedThing increased mass A mass which is higher than normal or average. tmpak2llvmy_mondo_relaxed.owl large mass|high mass owl:Class PATO:0000125 biolink:NamedThing mass A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016521 biolink:NamedThing muscular pseudohypertrophy-hypothyroidism syndrome Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. tmpak2llvmy_mondo_relaxed.owl Kocher-DebrC)-Semelaigne syndrome|Kocher-Debré-Semelaigne syndrome|Hoffman syndrome SCTID:716338001|ICD10:E03.1|Orphanet:2349 owl:Class MONDO:0000881 biolink:NamedThing myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity. tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 2021-01-01 UMLS:C2827356|NCIT:C84270|DOID:0080164 Reason: duplicate. This will be merged with MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 owl:Class NCBITaxon:116706 biolink:NamedThing Heterotremata tmpak2llvmy_mondo_relaxed.owl Brachyrhyncha GC_ID:1 NCBITaxon:6773|NCBITaxon:29963|NCBITaxon:6803 ncbi_taxonomy owl:Class MONDO:0020039 biolink:NamedThing 46,XX disorder of sex development induced by androgens excess tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by androgens excess Orphanet:98078|UMLS:CN227738 owl:Class UBERON:0004834 biolink:NamedThing hepatic duct smooth muscle Smooth muscle tissue in all or part of a hepatic duct. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007237 biolink:NamedThing 1st arch mandibular component tmpak2llvmy_mondo_relaxed.owl ventral visceral arch 1|ventral pharyngeal arch 1|ventral mandibular arch owl:Class MONDO:0013624 biolink:NamedThing Rafiq syndrome Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 15|autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|RAFQS|MAN1B1 autosomal recessive non-syndromic intellectual disability|MRT15|mental retardation, autosomal recessive 15|CDG2U|mental retardation, autosomal recessive type 15 UMLS:C3280127|OMIM:614202 owl:Class MONDO:0018978 biolink:NamedThing IgG4-related mediastinitis tmpak2llvmy_mondo_relaxed.owl sclerosing mediastinitis|idiopathic mediastinal fibrosis|fibrosing mediastinitis|mediastinal fibrosis GARD:0008337|MedDRA:10027074|ICD10:J98.5|Orphanet:63999|MESH:C536136 owl:Class CL:1000708 biolink:NamedThing ureter adventitial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001119 cell owl:Class MONDO:0011506 biolink:NamedThing familial infantile myoclonic epilepsy tmpak2llvmy_mondo_relaxed.owl FIME|familial infantile myoclonus epilepsy|myoclonic epilepsy, familial infantile|Eim Orphanet:352582|ICD10:G40.3|OMIM:605021|UMLS:C0917800 owl:Class HGNC:11515 biolink:NamedThing TBXT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016375 biolink:NamedThing acquired peripheral movement disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:221114|UMLS:CN226913 owl:Class MONDO:0021002 biolink:NamedThing syndactyly A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. tmpak2llvmy_mondo_relaxed.owl syndactyly (disease) syndactyly (disease) ICD10:Q70.4|ICD10:Q70|MedDRA:10042778|DOID:11193|ICD10:Q70.3|ICD10:Q70.9|ICD10:Q70.2|ICD10:Q70.0|HP:0001159|ICD9:755.1|ICD10:Q70.1 owl:Class MONDO:0054861 biolink:NamedThing intellectual disability, autosomal recessive 63 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 63|mental retardation, autosomal recessive 63|MRT63 OMIM:618095 owl:Class MONDO:0005223 biolink:NamedThing acute myeloid leukemia with minimal differentiation An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl M0 acute myeloblastic leukemia|minimally differentiated acute myeloblastic leukemia|acute myelogenous leukemia with minimal differentiation|acute myeloblastic leukemia, minimally differentiated|M0 myeloid leukemia|M0 acute myelogenous leukemia|M0 acute myelocytic leukemia|acute myeloblastic leukemia with minimal differentiation|acute myeloid leukemia with minimal differentiation (MO)|AML with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|acute myelocytic leukemia with minimal differentiation|acute myeloid leukemia with minimal differentiation|M0 myeloid leukemia with minimal differentiation|AMLMD|M0 acute myelogenous leukemia with minimal differentiation|AML M0|acute myeloid leukemia, minimally differentiated|M0 acute granulocytic leukemia Orphanet:98832|ICDO:9872/3|UMLS:C0522631|ONCOTREE:AMLMD|ICD10:C92.0|EFO:0003026|NCIT:C8460 MONDO:0020318 owl:Class UBERON:0001613 biolink:NamedThing occipital artery The occipital artery arises opposite the facial artery, its path is below the posterior belly of digastric to the occipital region. This artery supplies blood to the back of the scalp and sterno-mastoid muscles. Other muscles it supplies are deep muscles in the back and neck. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria occipitalis owl:Class UBERON:0035398 biolink:NamedThing branch of external carotid artery tmpak2llvmy_mondo_relaxed.owl subdivision of external carotid artery|external carotid arterial subdivision owl:Class MONDO:0008399 biolink:NamedThing sarcoidosis, susceptibility to, 1 Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to sarcoidosis 1|sarcoidosis, susceptibility to, 1|HLA-DRB1 sarcoidosis|sarcoidosis caused by mutation in HLA-DRB1|sarcoidosis|sarcoidosis, susceptibility to, type 1|Boeck sarcoid|SS1 OMIM:181000|ICD9:135 owl:Class MONDO:0018031 biolink:NamedThing granulomatous slack skin disease Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. tmpak2llvmy_mondo_relaxed.owl granulomatous slack skin NCIT:C35464|UMLS:C0376407|SCTID:277796003|GARD:0010986|ICD10:C84.0|Orphanet:33111 owl:Class UBERON:0012487 biolink:NamedThing vaginal sphincter A sphincter muscle that is part of a vagina. tmpak2llvmy_mondo_relaxed.owl sphincter of vagina owl:Class MONDO:0015435 biolink:NamedThing ring chromosome 19 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. tmpak2llvmy_mondo_relaxed.owl R19|Ring chromosome type 19|Ring chromosome 19 syndrome|Ring 19|chromosome 19 ring MESH:C538310|ICD10:Q93.2|SCTID:765484001|GARD:0001333|Orphanet:1443|UMLS:CN036553 https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19 owl:Class MONDO:0019765 biolink:NamedThing Celosomia tmpak2llvmy_mondo_relaxed.owl SCTID:44518003|ICD10:Q76.7|Orphanet:93942|ICD9:759.89 owl:Class MONDO:0016066 biolink:NamedThing sternal cleft Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. tmpak2llvmy_mondo_relaxed.owl sternum bifidum|cleft sternum|congenital sternal cleft SCTID:54008006|GARD:0005012|ICD9:756.3|UMLS:C2931507|ICD10:Q76.7|Orphanet:2017|MESH:C537489 https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft owl:Class MONDO:0000563 biolink:NamedThing GRID2-related autosomal dominant spinocerebellar ataxia tmpak2llvmy_mondo_relaxed.owl GRID2-related spinocerebellar ataxia DOID:0050988 the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging. owl:Class CL:0000014 biolink:NamedThing germ line stem cell tmpak2llvmy_mondo_relaxed.owl germline stem cell cell owl:Class MONDO:0005488 biolink:NamedThing adolescent idiopathic scoliosis A scoliosis with no known cause arising in adolescent. tmpak2llvmy_mondo_relaxed.owl EFO:0005423|SCTID:203646004 owl:Class GO:0042752 biolink:NamedThing regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010801 biolink:NamedThing spondylocamptodactyly syndrome Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. tmpak2llvmy_mondo_relaxed.owl camptodactyly with cervical platyspondyly|spondylocamptodactyly|spondylo camptodactyly syndrome GARD:0004972|OMIM:600000|UMLS:C4274762|Orphanet:3180|MESH:C535779|ICD10:Q77.8|SCTID:716231009|UMLS:C1838781 owl:Class HGNC:330 biolink:NamedThing AGRP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001598 biolink:NamedThing benign lymphoepithelial lesion of salivary gland A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. tmpak2llvmy_mondo_relaxed.owl Godwin tumor|benign salivary gland lymphoepithelial lesion|benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland ICD10:K11.8|SCTID:45517002|NCIT:C3949|DOID:12899|UMLS:C0266995|ICD9:527.8 owl:Class MONDO:0018734 biolink:NamedThing verrucous hemangioma A skin hemangioma characterized by the presence of epidermal hyperplasia. tmpak2llvmy_mondo_relaxed.owl verrucous keratotic hemangioma|verrucous keratotic hemangioma (morphologic abnormality) UMLS:C0334540|DOID:470|NCIT:C4299|UMLS:CN242156|ICD10:D18.0|ICDO:9142/0|Orphanet:464318 owl:Class UBERON:0014466 biolink:NamedThing subarachnoid fissure tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25340 biolink:NamedThing methylpyridines Any member of the class of pyridines that carries at least one methyl substituent. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009234 biolink:NamedThing congenital high-molecular-weight kininogen deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. tmpak2llvmy_mondo_relaxed.owl HMWK deficiency|kininogen deficiency, high molecular weight|kininogen deficiency, high molecular weight and Low molecular weight|Williams trait|Fitzgerald trait kininogen deficiency, total, included|Williams trait, included|Hmwk deficiency|HMWK|high molecular weight kininogen deficiency|Flaujeac factor deficiency|Flaujeac trait|Flaujeac trait, included|kininogen deficiency, total|high-molecular-weight kininogen deficiency, congenital|kininogen deficiency, high molecular weight and LOW molecular weight, included|Fitzgerald trait GARD:0002684|SCTID:27312002|NCIT:C98946|Orphanet:483|ICD9:286.9|MESH:C537060|ICD10:D68.8|DOID:0111676|OMIM:228960 https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency owl:Class GO:0019866 biolink:NamedThing organelle inner membrane The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031090 biolink:NamedThing organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. tmpak2llvmy_mondo_relaxed.owl intracellular membrane owl:Class HGNC:7458 biolink:NamedThing MT-ND3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003024 biolink:NamedThing breast angiosarcoma A malignant vascular neoplasm arising from the breast. tmpak2llvmy_mondo_relaxed.owl hemangiosarcoma of the breast|BA|breast hemangiosarcoma|angiosarcoma of breast|angiosarcoma (disease) of breast|breast angiosarcoma|angiosarcoma of the breast|breast angiosarcoma (disease)|hemangiosarcoma of breast NCIT:C5184|MESH:C536368|DOID:4511|UMLS:C1332614|GARD:0009974|ONCOTREE:BA https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast owl:Class MONDO:0016269 biolink:NamedThing high-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. tmpak2llvmy_mondo_relaxed.owl poorly differentiated neuroendocrine carcinoma of the endometrium|poorly differentiated neuroendocrine carcinoma of the corpus uteri|high-grade neuroendocrine carcinoma of the uterine corpus ICD10:C54.8|ICD10:C54.1|ICD10:C54.3|Orphanet:213731|ICD10:C54.0|ICD10:C54.2|UMLS:CN201058 owl:Class UBERON:0035383 biolink:NamedThing lateral wall of nasopharynx tmpak2llvmy_mondo_relaxed.owl lateral nasopharynx owl:Class UBERON:0034874 biolink:NamedThing air in respiratory system Any portion of gas located in a part of the respiratory system that is composed primarily of air. tmpak2llvmy_mondo_relaxed.owl respiratory system air|respiratory air owl:Class MONDO:0001902 biolink:NamedThing congenital agammaglobulinemia An instance of agammaglobulinemia that is present from birth. tmpak2llvmy_mondo_relaxed.owl congenital hypogammaglobulinaemia|congenital agammaglobulinemia|congenital hypogammaglobulinemia (finding) ICD9:279.04|UMLS:C1457897|DOID:14177 owl:Class GO:0098771 biolink:NamedThing inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009994 biolink:NamedThing alveolar rhabdomyosarcoma A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. tmpak2llvmy_mondo_relaxed.owl monomorphous round cell rhabdomyosarcoma|rhabdomyosarcoma alveolar|rhabdomyosarcoma, alveolar|alveolar childhood rhabdomyosarcoma|alveolar rhabdomyosarcoma (disease)|alveolar rhabdomyosarcoma (morphologic abnormality)|rhabdomyosarcoma 2|pediatric alveolar rhabdomyosarcoma|rhabdomyosarcoma type 2|alveolar rhabdomyosarcoma|arms|RMS2 alveolar rhabdomyosarcoma (disease) OMIM:268220|HP:0006779|ICD9:171.9|DOID:4051|MESH:D018232|MedDRA:10065867|GARD:0004701|NCIT:C3749|SCTID:404053004|EFO:0000248|ICD10:C49.9|ICDO:8920/3|Orphanet:99756|ONCOTREE:ARMS|UMLS:C0206655 owl:Class MONDO:0005817 biolink:NamedThing Kluver-Bucy syndrome Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. tmpak2llvmy_mondo_relaxed.owl post-encephalitic Kluver Bucy syndrome (type)|Kluver Bucy syndrome|post-traumatic Kluver Bucy syndrome (type)|memory loss, extreme sexual behavior, placidity, and visual distractibility|Klver-Bucy syndrome|KLuever-Bucy syndrome|syndrome, Kluver-Bucy|temporal lobectomy behavior syndrome|KLüver-Bucy syndrome|bilateral temporal lobe disorder DOID:2510|GARD:0006840|NCIT:C84802|Orphanet:157823|SCTID:10651001|MedDRA:10066431|EFO:0007335|MESH:D020232 MONDO:0015527 https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome owl:Class CL:1000892 biolink:NamedThing kidney capillary endothelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001030 cell owl:Class MONDO:0026730 biolink:NamedThing Basilicata-Akhtar syndrome tmpak2llvmy_mondo_relaxed.owl BASILICATA-AKHTAR SYNDROME|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type|MRXSBA|Mental Retardation, X-Linked, Syndromic 36 OMIM:301032 owl:Class GO:2000469 biolink:NamedThing negative regulation of peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity. tmpak2llvmy_mondo_relaxed.owl negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of oxyperoxidase activity|negative regulation of peroxidase reaction owl:Class MONDO:0013718 biolink:NamedThing nephronophthisis 13 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. tmpak2llvmy_mondo_relaxed.owl nephronophthisis 13|NPHP13|nephronophthisis type 13 UMLS:C3280612|DOID:0111121|OMIM:614377 owl:Class GO:0044275 biolink:NamedThing cellular carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular carbohydrate degradation|cellular carbohydrate breakdown|cellular carbohydrate catabolism owl:Class MONDO:0011036 biolink:NamedThing porencephaly-cerebellar hypoplasia-internal malformations syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. tmpak2llvmy_mondo_relaxed.owl Bonnemann Meinecke syndrome|porencephaly cerebellar hypoplasia internal malformations|Bonnemann-Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations Orphanet:2941|ICD10:Q87.8|OMIM:601322|MESH:C536336|SCTID:763821001|GARD:0004437|UMLS:C1832472 owl:Class GO:0010888 biolink:NamedThing negative regulation of lipid storage Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004241 biolink:NamedThing Osgood-Schlatter disease Osteochondrosis of the growth plate near the tibial tuberosity. tmpak2llvmy_mondo_relaxed.owl Osteochondrosis of the tibial tubercle|osteochondritis of the tibial tubercle|osteochondritis of tibial tubercle|aseptic necrosis of the tibial tubercle|Osteochondrosis of proximal tibia|Osgood-Schlatter disease|Osgood-Schlatter's disease|juvenile osteochondrosis of tibial tubercle ICD9:736.89|Orphanet:97335|NCIT:C34874|SCTID:72047008|SCTID:430506003|DOID:7489|ICD10:M93.2|MedDRA:10031130 owl:Class NCBITaxon:359160 biolink:NamedThing BOP clade tmpak2llvmy_mondo_relaxed.owl BEP clade GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4479 biolink:NamedThing Poaceae tmpak2llvmy_mondo_relaxed.owl Bambusaceae|Gramineae|grass family GC_ID:1 NCBITaxon:1661618 ncbi_taxonomy owl:Class MONDO:0019383 biolink:NamedThing acute disseminated encephalomyelitis Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. tmpak2llvmy_mondo_relaxed.owl acute disseminated encephalomyelitis|acute disseminated encephalitis|ADE|ADEM SCTID:83942000|GARD:0008639|MESH:D004673|UMLS:C0014059|EFO:0007130|ICD9:136.9|NCIT:C34578|ICD10:G04.0|Orphanet:83597|DOID:639 https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis owl:Class OBI:0000659 biolink:NamedThing specimen collection process A planned process with the objective of collecting a specimen. tmpak2llvmy_mondo_relaxed.owl owl:Class OBI:0000011 biolink:NamedThing planned process A process that realizes a plan which is the concretization of a plan specification.|A processual entity that realizes a plan which is the concretization of a plan specification. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10985 biolink:NamedThing SLC25A15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004518 biolink:NamedThing anterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body. tmpak2llvmy_mondo_relaxed.owl anterior urethral malignant neoplasm|malignant tumor of anterior urethra|anterior urethra malignant tumor|anterior urethral cancer|anterior urethral malignant tumor|malignant tumor of the anterior urethra|anterior urethra malignant neoplasm|malignant neoplasm of the anterior urethra|malignant neoplasm of anterior urethra NCIT:C7641|DOID:8272|UMLS:C0279930 owl:Class CL:0000839 biolink:NamedThing myeloid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. tmpak2llvmy_mondo_relaxed.owl myeloid progenitor cell FMA:70339|BTO:0004730|CALOHA:TS-2099 Note that this is a class of cell types, not an identified single cell type. cell owl:Class MONDO:0017630 biolink:NamedThing X-linked complicated spastic paraplegia type 1 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. tmpak2llvmy_mondo_relaxed.owl SPG1 GARD:0012525|Orphanet:306617|UMLS:CN203524 owl:Class MONDO:0007022 biolink:NamedThing xanthogranulomatous pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. tmpak2llvmy_mondo_relaxed.owl xanthogranulomatous pyelonephritis NCIT:C123038|EFO:1001244|DOID:11401|SCTID:38898003|UMLS:C0034188|GARD:0012021|ICD9:582.89|MedDRA:10074389|MESH:D011705 owl:Class HP:0005832 biolink:NamedThing Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. tmpak2llvmy_mondo_relaxed.owl UMLS:C1859444 HP:0005840 human_phenotype owl:Class HP:0200000 biolink:NamedThing Dysharmonic bone age Different levels of maturation of different bones. tmpak2llvmy_mondo_relaxed.owl Dysharmonic skeletal maturation UMLS:C4020918 Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. sebastiankohler 2010-05-31T01:16:51Z human_phenotype owl:Class MONDO:0020539 biolink:NamedThing extragonadal non-dysgerminomatous germ cell tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:99913|UMLS:CN207440 owl:Class MONDO:0018201 biolink:NamedThing extragonadal germ cell tumor A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). tmpak2llvmy_mondo_relaxed.owl neoplasm of extragonadal germ cell|primary extragonadal germ cell tumor|extragonadal germ cell tumor|tumor of extragonadal germ cell|extragonadal germ cell neoplasms|tumor of the extragonadal germ cell|neoplasm of the extragonadal germ cell|extragonadal germ cell neoplasm UMLS:CN204711|NCIT:C3918|UMLS:C0262963|GARD:0009325|Orphanet:363579 owl:Class NCBITaxon:41827 biolink:NamedThing Culicoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009228 biolink:NamedThing gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. tmpak2llvmy_mondo_relaxed.owl gingival fibromatosis with distinctive facies|gingival fibromatosis with craniofacial dysmorphism|fibromatosis, gingival, with distinctive facies UMLS:C1856761|Orphanet:2025|ICD10:Q87.0|MESH:C565567|OMIM:228560|GARD:0010528 https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies owl:Class IAO:8000007 biolink:NamedThing curation subset ontology module A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation. tmpak2llvmy_mondo_relaxed.owl curation subset ontology module owl:Class NCBITaxon:59142 biolink:NamedThing funestus group tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012264 biolink:NamedThing preeclampsia/eclampsia 2 tmpak2llvmy_mondo_relaxed.owl PREECLAMPSIA/eclampsia 2|PEE2 OMIM:609402|UMLS:C1836257 owl:Class MONDO:0006923 biolink:NamedThing Bacillaceae infectious disease Infections with bacteria of the family bacillaceae. tmpak2llvmy_mondo_relaxed.owl infection, Bacillaceae|Bacillaceae disease or disorder|infections, Bacillaceae|Bacillaceae infection|Bacillaceae caused disease or disorder EFO:1001124|MESH:D016863|UMLS:C0085389 owl:Class NCBITaxon:85006 biolink:NamedThing Micrococcales tmpak2llvmy_mondo_relaxed.owl Micrococcineae GC_ID:11|PMID:11837321|PMID:19244447|PMID:20190019|PMID:30186281|PMID:19542112 ncbi_taxonomy owl:Class UBERON:0034978 biolink:NamedThing paraganglion (generic) A cluster of neuroendocrine cells derived from neural crest. Paraganglia may be chromaffin or nonchromaffin tmpak2llvmy_mondo_relaxed.owl paraganglia owl:Class UBERON:0010001 biolink:NamedThing cell cluster organ A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001137 biolink:NamedThing dorsum A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. tmpak2llvmy_mondo_relaxed.owl dorsal part of organism|back|back of body proper owl:Class HP:0002156 biolink:NamedThing Homocystinuria An increased concentration of homocystine in the urine. tmpak2llvmy_mondo_relaxed.owl High urine homocystine levels MSH:D006712|UMLS:C0019880|SNOMEDCT_US:11282001 Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. human_phenotype owl:Class HP:0033095 biolink:NamedThing Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. tmpak2llvmy_mondo_relaxed.owl Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine peter human_phenotype owl:Class MONDO:0003354 biolink:NamedThing heart sarcoma A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas. tmpak2llvmy_mondo_relaxed.owl Cardiac sarcoma|cardiac sarcoma|heart sarcoma|sarcoma of heart|sarcoma of the heart UMLS:C0238152|DOID:5262|NCIT:C7723 owl:Class CL:0002014 biolink:NamedThing Kit-negative, Ly-76 high basophilic erythroblast A basophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpak2llvmy_mondo_relaxed.owl Cell surface markers are associated with mouse cells. tmeehan 2010-04-26T10:41:22Z cell owl:Class MONDO:0007675 biolink:NamedThing glutamic acid decarboxylase, brain, membrane form tmpak2llvmy_mondo_relaxed.owl glutamic acid decarboxylase, brain, membrane form OMIM:138277 owl:Class MONDO:0014823 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 3 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. tmpak2llvmy_mondo_relaxed.owl IHPRF3|TBCK-related intellectual disability syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies 3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3 OMIM:616900|Orphanet:488632|UMLS:C4225161 owl:Class GO:0019853 biolink:NamedThing L-ascorbic acid biosynthetic process The chemical reactions and pathways resulting in the formation of L-ascorbic acid; L-ascorbic acid ionizes to give L-ascorbate, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate, which is required as a cofactor in the oxidation of prolyl residues to hydroxyprolyl, and other reactions. tmpak2llvmy_mondo_relaxed.owl L-ascorbic acid biosynthesis|L-ascorbic acid synthesis|ascorbate biosynthetic process|L-ascorbic acid anabolism|L-ascorbic acid formation|vitamin C biosynthesis|vitamin C biosynthetic process|ascorbate biosynthesis owl:Class MONDO:0007610 biolink:NamedThing gingival fibromatosis-hypertrichosis syndrome Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. tmpak2llvmy_mondo_relaxed.owl HTC3|congenital generalized hypertrichosis terminalis|gingival fibromatosis with hypertrichosis|microdeletion 17Q24.2-q24.3 syndrome|hypertrichosis, congenital generalized, with or without gingival hyperplasia|chromosome 17Q24.2-q24.3 Duplication syndrome|fibromatosis, gingival, with hypertrichosis|microduplication 17Q24.2-q24.3 syndrome|hypertrichosis with or without gingival hyperplasia|extreme hirsutism with gingival fibromatosis|chromosome 17Q24.2-q24.3 deletion syndrome|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|CGHT|hereditary gingival fibromatosis with hypertrichosis|hypertrichosis terminalis, generalized, with gingival hyperplasia|hirsutism-congenital gingival hyperplasia syndrome MESH:C565016|Orphanet:2026|GARD:0002324|ICD10:L68.8|SCTID:716008002|OMIM:135400 https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis owl:Class FOODON:00001184 biolink:NamedThing algal food product This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms. tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F10419 http://langual.org subset_siren owl:Class MONDO:0022912 biolink:NamedThing cutis verticis gyrata mental deficiency tmpak2llvmy_mondo_relaxed.owl GARD:0001644 https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency owl:Class MONDO:0019033 biolink:NamedThing primary cutis verticis gyrata Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG). tmpak2llvmy_mondo_relaxed.owl cutis verticis gyrata SCTID:51603000|UMLS:C0263417|ICD9:757.39|ICD10:Q82.8|GARD:0001643|Orphanet:671 https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata owl:Class GO:0042493 biolink:NamedThing response to drug Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. tmpak2llvmy_mondo_relaxed.owl drug susceptibility/resistance|drug resistance owl:Class MONDO:0007250 biolink:NamedThing camptodactyly of fingers Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. tmpak2llvmy_mondo_relaxed.owl minor streblomicrodactyly, familial|camptodactyly and knuckle pads|familial streblodactyly|streblodactyly|crooked little finger, familial|CAMPD1|camptodactyly 1 ICD9:755.59|GARD:0009448|Orphanet:295016|OMIM:114200|MESH:C536852|MESH:C567780|SCTID:29271008|ICD10:Q68.1 https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly owl:Class MONDO:0017428 biolink:NamedThing congenital deformities of fingers tmpak2llvmy_mondo_relaxed.owl ICD10:Q68.1|Orphanet:294947 owl:Class MONDO:0022513 biolink:NamedThing atrophoderma of Pierini and Pasini Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. tmpak2llvmy_mondo_relaxed.owl idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini ICD10:L90.3|GARD:0005866|SCTID:711524008 https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini owl:Class NCBITaxon:214035 biolink:NamedThing Tunga penetrans tmpak2llvmy_mondo_relaxed.owl chigger|chigoe flea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:140713 biolink:NamedThing Tunga tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:1390 biolink:NamedThing CACNA1C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010846 biolink:NamedThing exostoses, multiple, type III tmpak2llvmy_mondo_relaxed.owl EXT3|exostoses, multiple, type 3|exostoses, multiple, type III MESH:C563975|OMIM:600209|UMLS:C1838420|GARD:0002206 owl:Class UBERON:0001517 biolink:NamedThing skin of elbow A zone of skin that is part of a elbow [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl elbow zone of skin|cubital region zone of skin|elbow skin|zone of skin of cubital region|zone of skin of elbow owl:Class MONDO:0019860 biolink:NamedThing thyroid hemiagenesis Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023190|ICD10:E03.1|Orphanet:95719|SCTID:715734006 owl:Class MONDO:0011869 biolink:NamedThing epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex superficialis|EBSS MESH:C564368|ICD10:Q81.0|OMIM:607600|UMLS:C1843477|Orphanet:89839 owl:Class MONDO:0015550 biolink:NamedThing suprabasal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex of epidermis suprabasal layer|epidermis suprabasal layer epidermolysis bullosa simplex SCTID:724840004|Orphanet:158661|ICD10:Q81.0|UMLS:C4511300 owl:Class MONDO:0016925 biolink:NamedThing partial trisomy/tetrasomy of chromosome 5 tmpak2llvmy_mondo_relaxed.owl partial duplication/triplication of chromosome 5|partial trisomy/tetrasomy of chromosome type 5 Orphanet:262211 owl:Class NBO:0000001 biolink:NamedThing body part movement A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] tmpak2llvmy_mondo_relaxed.owl stationary movement owl:Class MONDO:0019422 biolink:NamedThing X-linked intellectual disability, Stevenson type An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl SCTID:718909001|UMLS:CN206178|Orphanet:85325|ICD10:Q87.8 owl:Class MONDO:0013836 biolink:NamedThing familial steroid-resistant nephrotic syndrome with sensorineural deafness tmpak2llvmy_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 6|COQ10D6|coenzyme Q10 deficiency, primary, type 6 Orphanet:280406|UMLS:C3553349|OMIM:614650|ICD10:N04.8|DOID:0070243 owl:Class MONDO:0010576 biolink:NamedThing X-linked mixed deafness with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. tmpak2llvmy_mondo_relaxed.owl sensorineural hearing loss|X-linked mixed conductive and neurosensory deafness|X-linked deafness type 2|deafness mixed with perilymphatic gusher|deafness, X-linked type 2|DFN3|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|X-linked mixed conductive and sensorineural deafness|high-frequency hearing loss|central hearing loss|X-linked stapes gusher syndrome|perceptive hearing loss or deafness|X-linked mixed conductive and sensorineural hearing loss|sensorineural deafness|Nance deafness|perceptive deafness|deafness 3, conductive, with stapes fixation|deafness 3 conductive with stapes fixation|X-linked mixed conductive and neurosensory hearing loss|deafness, X-linked 2|deafness mixed with perilymphatic gusher, X-linked|high frequency deafness|perilymphatic gusher-deafness syndrome|conductive deafness with stapes fixation|sensory hearing loss|perceptive hearing loss|X-linked mixed deafness with perilymphatic gusher|DFN 3 nonsyndromic hearing loss and deafness|deafness, conductive, with stapes fixation|deafness, mixed, with perilymphatic gusher|high frequency hearing loss|gusher syndrome|deafness conductive with stapes fixation|DFNX2 ICD10:H90.5|ICD9:389.1|OMIM:304400|ICD9:389.14|UMLS:C1844678|MedDRA:10040016|Orphanet:383|ICD10:H91.9|DOID:10003|ICD10:H90.8|EFO:1001176|GARD:0004504|GARD:0001694|ICD9:389.10 owl:Class GO:0015872 biolink:NamedThing dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011589 biolink:NamedThing microphthalmia with coloboma 2 tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with coloboma 2|MCOPCB2|microphthalmia, colobomatous, isolated 2 UMLS:C1854018|MESH:C565300|OMIM:605738 owl:Class HP:0030962 biolink:NamedThing Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. tmpak2llvmy_mondo_relaxed.owl 2017-04-18 13:00:44+00:00 robinp human_phenotype owl:Class MONDO:0010481 biolink:NamedThing angioedema Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. tmpak2llvmy_mondo_relaxed.owl Quincke's edema|urticaria, giant|angioneurotic oedema|edema, angioneurotic|edema, Quincke's|Quinckes edema|Urticarias, giant|Edemas, angioneurotic|giant urticaria|Quincke edema|angioneurotic Edemas|giant Urticarias|angioedemas|angioneurotic edema ICD10:T78.3|CSP:2716-7007|ICD9:995.1|DOID:1558|SCTID:400075008|EFO:0005532|MESH:D000799|HP:0100665 owl:Class MONDO:0010088 biolink:NamedThing mucosulfatidosis Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. tmpak2llvmy_mondo_relaxed.owl juvenile sulfatidosis, Austin type|MSD|sulfatidosis, juvenile, Austin type|multiple sulfatase deficiency|sulfatidosis juvenile, Austin type|juvenile sulfatidosis|mucosulfatidosis|multiple sulfatase deficiency disease OMIM:272200|MESH:D052517|UMLS:C0268263|ICD10:E75.2|SCTID:54898003|NCIT:C84908|DOID:0050441|Orphanet:585|GARD:0005061 owl:Class MONDO:0022942 biolink:NamedThing deafness mesenteric diverticula of small bowel neuropathy tmpak2llvmy_mondo_relaxed.owl GARD:0001693 https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy owl:Class UBERON:0001850 biolink:NamedThing lacrimal drainage system A collection of channels that connects the conjunctival sac with the nasal cavity, encompassing the lacrimal ducts, the lacrimal sac and the naso-lacrimal duct. tmpak2llvmy_mondo_relaxed.owl tear duct|lacrimal duct owl:Class MONDO:0009906 biolink:NamedThing prenatal bowing tmpak2llvmy_mondo_relaxed.owl prenatal bowing OMIM:264050|MESH:C564873 owl:Class MONDO:0012362 biolink:NamedThing dilated cardiomyopathy 1P Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|cardiomyopathy, dilated, 1P|dilated cardiomyopathy type 1P|CMD1P|PLN familial isolated dilated cardiomyopathy UMLS:C1835928|DOID:0110439|MESH:C563690|OMIM:609909|ICD10:I42.0 owl:Class NCBITaxon:29930 biolink:NamedThing Ixodes pacificus tmpak2llvmy_mondo_relaxed.owl California black legged tick|western blacklegged tick GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6944 biolink:NamedThing Ixodes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903035 biolink:NamedThing negative regulation of response to wounding Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. tmpak2llvmy_mondo_relaxed.owl downregulation of response to wounding|inhibition of physiological response to wounding|negative regulation of physiological response to wounding|down-regulation of physiological response to wounding|downregulation of physiological response to wounding|down regulation of response to wounding|down-regulation of response to wounding|inhibition of response to wounding|down regulation of physiological response to wounding owl:Class MONDO:0011043 biolink:NamedThing myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay tmpak2llvmy_mondo_relaxed.owl myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay UMLS:C1832442|OMIM:601347|MESH:C563345 owl:Class GO:0061037 biolink:NamedThing negative regulation of cartilage development Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013377 biolink:NamedThing isolated microphthalmia 7 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated 7|MCOP7|isolated microphthalmia caused by mutation in GDF3|microphthalmia, isolated type 7|GDF3 isolated microphthalmia|isolated microphthalmia type 7 OMIM:613704|DOID:0060838|UMLS:C3150969|ICD10:Q11.0 owl:Class MONDO:0017592 biolink:NamedThing staphylococcal toxemia tmpak2llvmy_mondo_relaxed.owl Orphanet:300579|UMLS:C0854511|MedDRA:10041932 owl:Class MONDO:0011932 biolink:NamedThing hypotrichosis 6 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. tmpak2llvmy_mondo_relaxed.owl hypotrichosis 6|monilethrix-like hypotrichosis|HYPT6|hypotrichosis caused by mutation in DSG4|hypotrichosis, localized, autosomal recessive|DSG4 hypotrichosis|Lah1|autosomal recessive localized hypotrichosis|hypotrichosis, localized, autosomal recessive 1|Htl|hypotrichosis type 6 UMLS:C1842839|DOID:0110703|MESH:C564312|OMIM:607903 owl:Class ECTO:9000175 biolink:NamedThing exposure to metal cation An exposure to metal cation. tmpak2llvmy_mondo_relaxed.owl exposure to metal cation owl:Class MONDO:0001635 biolink:NamedThing bladder squamous papilloma A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium. tmpak2llvmy_mondo_relaxed.owl bladder squamous papilloma UMLS:C1511199|NCIT:C39834|DOID:13110 owl:Class MONDO:0033635 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 3 tmpak2llvmy_mondo_relaxed.owl MC4DN3 OMIM:619046 owl:Class MONDO:0013431 biolink:NamedThing Meier-Gorlin syndrome 4 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. tmpak2llvmy_mondo_relaxed.owl CDT1 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 4|Meier-Gorlin syndrome caused by mutation in CDT1|Meier-Gorlin syndrome 4|Meier-GORLIN syndrome 4|MGORS4 DOID:0080515|OMIM:613804|UMLS:C3151120 owl:Class NBO:0000011 biolink:NamedThing social behavior "A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior] tmpak2llvmy_mondo_relaxed.owl social behaviour owl:Class MONDO:0044748 biolink:NamedThing anaplasmosis in cattle A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. tmpak2llvmy_mondo_relaxed.owl Anaplasmoses MESH:D000712 owl:Class GO:0051704 biolink:NamedThing multi-organism process A biological process which involves another organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl physiological interaction between organisms|interaction between organisms|physiological interaction with other organism owl:Class MONDO:0006761 biolink:NamedThing fibromuscular dysplasia A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. tmpak2llvmy_mondo_relaxed.owl fibromuscular dysplasia of arteries|FMDA|fibromuscular dysplasia EFO:1000938|UMLS:C1851111|MESH:C537929|MedDRA:10054794|NCIT:C84714|MESH:D005352|OMIM:135580 owl:Class HGNC:18153 biolink:NamedThing TNFRSF13B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003950 biolink:NamedThing nipple carcinoma A carcinoma that arises from epithelial cells of the nipple tmpak2llvmy_mondo_relaxed.owl nipple cancer|carcinoma of nipple|nipple carcinoma NCIT:C28432|UMLS:C1334966|DOID:6629 owl:Class MONDO:0003243 biolink:NamedThing hepatocellular clear cell carcinoma A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. tmpak2llvmy_mondo_relaxed.owl clear cell carcinoma of liver cells|hepatocellular clear cell carcinoma|clear cell carcinoma of the liver cells|clear cell hepatocellular cancer|clear cell hepatocellular carcinoma|liver cell clear cell carcinoma DOID:5016|UMLS:C1333067|ICDO:8174/3|NCIT:C5754 owl:Class MONDO:0015414 biolink:NamedThing paramedian nasal cleft Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. tmpak2llvmy_mondo_relaxed.owl isolated cleft of the ala nasi|isolated coloboma of the nose|Tessier number 1 cleft|cleft nose|alar cleft|alar rim cleft ICD9:748.1|SCTID:204521002|ICD10:Q18.8|Orphanet:141242 owl:Class MONDO:0015478 biolink:NamedThing paramedian facial cleft tmpak2llvmy_mondo_relaxed.owl Tessier number 1-1 and 2-12 facial cleft ICD10:Q18.8|Orphanet:155867 owl:Class MONDO:0008452 biolink:NamedThing spinal muscular atrophy, facioscapulohumeral type tmpak2llvmy_mondo_relaxed.owl Fshsma|spinal muscular atrophy, facioscapulohumeral type UMLS:C1866783|OMIM:182970|MESH:C566674 owl:Class UBERON:0005873 biolink:NamedThing 2nd arch pharyngeal cleft A groove that is situated between the 2nd and 3rd pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl 2nd branchial cleft|branchial groove of 2nd arch|2nd arch groove ectoderm|2nd arch branchial groove|2nd pharyngeal cleft|2nd pharyngeal groove ectoderm|2nd pharyngeal groove owl:Class UBERON:0005879 biolink:NamedThing pharyngeal cleft An external pocketing of pharyngeal ectoderm that contacts a region of endoderm (a pharyngeal pouch) and interdigitates in the anterior and posterior directions by the pharyngeal arches. tmpak2llvmy_mondo_relaxed.owl branchial groove|gill cleft|pharyngeal groove|branchial cleft|pharyngeal ectodermal cleft|Kiemenspalten|sulcus pharyngei|pharyngeal groove ectoderm|pharyngeal slit owl:Class MONDO:0011704 biolink:NamedThing glaucoma 1, open angle, B tmpak2llvmy_mondo_relaxed.owl GLC1B|glaucoma 1, open angle, B OMIM:606689 owl:Class MONDO:0013016 biolink:NamedThing leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. tmpak2llvmy_mondo_relaxed.owl leukocyte adhesion deficiency caused by mutation in FERMT3|LAD1V|lad-1 variant|LAD3|leukocyte adhesion deficiency, type 3|leukocyte adhesion deficiency type III|IADD|lad-III|FERMT3 leukocyte adhesion deficiency|LAD1 variant|leukocyte adhesion deficiency 1 variant|leukocyte adhesion deficiency type 3|integrin activation deficiency disease|leukocyte adhesion deficiency-1 variant|leukocyte adhesion deficiency, type III|integrin Activation deficiency disease|leukocyte adhesion deficiency 3 ICD10:D84.8|OMIM:612840|DOID:0110912|MESH:C567555|UMLS:C2748536|Orphanet:99844 owl:Class MONDO:0060724 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 17 tmpak2llvmy_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 17|GPIBD17 UMLS:CN248527|OMIM:618010 owl:Class HGNC:2375 biolink:NamedThing MED17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011568 biolink:NamedThing autosomal dominant nonsyndromic deafness 25 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 25|autosomal dominant nonsyndromic deafness type 25|DFNA25|autosomal dominant deafness 25|SLC17A8 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8 MESH:C565319|UMLS:C1854158|OMIM:605583|DOID:0110555|ICD10:H90.3 owl:Class CHEBI:59163 biolink:NamedThing biomarker A substance used as an indicator of a biological state. tmpak2llvmy_mondo_relaxed.owl biological marker owl:Class CHEBI:47867 biolink:NamedThing indicator Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. tmpak2llvmy_mondo_relaxed.owl Indikator owl:Class MONDO:0008278 biolink:NamedThing juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome tmpak2llvmy_mondo_relaxed.owl JP/Hht syndrome|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|jPS/Hht|JPHT DOID:0111543|UMLS:C1832942|OMIM:175050|MESH:C563412 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class MONDO:0015185 biolink:NamedThing intestinal polyposis syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:104010|UMLS:C0345891|MedDRA:10057018|SCTID:254589009|UMLS:CN197525|NCIT:C155954 owl:Class MONDO:0005778 biolink:NamedThing haemonchiasis Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. tmpak2llvmy_mondo_relaxed.owl MESH:D006188|UMLS:C0018477|EFO:0007293|DOID:3332 owl:Class MONDO:0005994 biolink:NamedThing trichostrongyloidiasis Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. tmpak2llvmy_mondo_relaxed.owl Trichostrongyloidea disease or disorder|Trichostrongyloidea caused disease or disorder|Trichostrongyloidea infectious disease DOID:1255|UMLS:C0040947|EFO:0007522|MESH:D014252 owl:Class CHEBI:36093 biolink:NamedThing inorganic chloride tmpak2llvmy_mondo_relaxed.owl inorganic chloride salt|inorganic chlorides|inorganic chloride salts owl:Class CHEBI:23114 biolink:NamedThing chloride salt tmpak2llvmy_mondo_relaxed.owl chloride salts|chlorides owl:Class MONDO:0030876 biolink:NamedThing cardioacrofacial dysplasia 1 tmpak2llvmy_mondo_relaxed.owl CAFD1|cardioacrofacial dysplasia 1 OMIM:619142 owl:Class MONDO:0031386 biolink:NamedThing cardioacrofacial dysplasia tmpak2llvmy_mondo_relaxed.owl OMIMPS:619142 owl:Class MONDO:0002646 biolink:NamedThing viral laryngitis Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus. tmpak2llvmy_mondo_relaxed.owl Viruses caused laryngitis|Viruses laryngitis ICD9:464.00|DOID:3436|NCIT:C27305|UMLS:C0853195|SCTID:441551009 owl:Class MONDO:0001222 biolink:NamedThing congenital T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpak2llvmy_mondo_relaxed.owl T cell deficiency|congenital T-cell immunodeficiency UMLS:C1333147|DOID:11200|NCIT:C27872 owl:Class MONDO:0021021 biolink:NamedThing craniodiaphyseal dysplasia, autosomal dominant tmpak2llvmy_mondo_relaxed.owl craniodiaphyseal dysplasia, autosomal dominant|Schaefer Stein Oshman syndrome|CDD|dominantly inherited craniodiaphyseal dysplasia|craniodiaphyseal dysplasia, dominant GARD:0000249|MESH:C567275|OMIM:122860 owl:Class MONDO:0006869 biolink:NamedThing nodular goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. tmpak2llvmy_mondo_relaxed.owl goiter, nodular|nodular goiter|nodular goitre|nodular goiter (disease) nodular goiter (disease) NCIT:C131437|EFO:1001062|HP:0005994|UMLS:C0018023|SCTID:419153005|MESH:D006044|DOID:13197|MedDRA:10018495 owl:Class HGNC:11905 biolink:NamedThing TNFRSF10B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003084 biolink:NamedThing heart primordium Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. tmpak2llvmy_mondo_relaxed.owl cardiac field|fused heart primordium owl:Class MONDO:0000496 biolink:NamedThing hemorrhagic cystitis Inflammation of the bladder resulting in bloody urine. tmpak2llvmy_mondo_relaxed.owl SCTID:87696004|UMLS:C0085692|DOID:0050859|NCIT:C114666 owl:Class MONDO:0008295 biolink:NamedThing sporadic porphyria cutanea tarda An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl porphyria cutanea tarda, type I|acquired porphyria cutanea tarda|PCT, type 1|porphyria cutanea tarda type I|PCT, 'sporadic' type|porphyria cutanea tarda, type 1 UMLS:C1867968|OMIM:176090|ICD10:E80.1|SCTID:402479002|MESH:C566768|Orphanet:443057|UMLS:C1276127 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class MONDO:0018586 biolink:NamedThing zinc-responsive necrolytic acral erythema tmpak2llvmy_mondo_relaxed.owl NAE|necrolytic acral erythema SCTID:762543009|Orphanet:439196|ICD10:L53.8|UMLS:CN237615 owl:Class MONDO:0023297 biolink:NamedThing guttate psoriasis Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. tmpak2llvmy_mondo_relaxed.owl guttate psoriasis|psoriasis guttate|psoriasis guttata ICD10:L40.4|UMLS:C0343052|ICD9:696.1|SCTID:37042000|GARD:0010569 https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis owl:Class MONDO:0001233 biolink:NamedThing orbital tenonitis tmpak2llvmy_mondo_relaxed.owl tenonitis ICD9:376.04|SCTID:8976003|DOID:11233|UMLS:C0155259 owl:Class GO:0045124 biolink:NamedThing regulation of bone resorption Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35337 biolink:NamedThing central nervous system stimulant Any drug that enhances the activity of the central nervous system. tmpak2llvmy_mondo_relaxed.owl analeptic agent|analeptics|central stimulant|central nervous system stimulant|CNS stimulant|analeptic drug|analeptic owl:Class MONDO:0011172 biolink:NamedThing otofacioosseous-gonadal syndrome tmpak2llvmy_mondo_relaxed.owl otofacioosseous-gonadal syndrome OMIM:601976|MESH:C566597|UMLS:C1865988 owl:Class MONDO:0009479 biolink:NamedThing Johanson-Blizzard syndrome Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. tmpak2llvmy_mondo_relaxed.owl nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-BLIZZARD syndrome|Johanson-Blizzard syndrome|nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness|pancreatic insufficiency, combined exocrine|JBS OMIM:260450|GARD:0000080|ICD9:759.89|MESH:C564907|OMIM:243800|SCTID:75979009|MESH:C535880|DOID:14694|Orphanet:2315|EFO:0001063|ICD10:Q87.8|UMLS:C1850081|UMLS:C0175692 owl:Class MONDO:0017257 biolink:NamedThing idiopathic posterior uveitis Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:H20.0|Orphanet:280917 owl:Class HGNC:15511 biolink:NamedThing VANGL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060621 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy tmpak2llvmy_mondo_relaxed.owl NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM:617802|UMLS:C4540493 owl:Class MONDO:0016709 biolink:NamedThing anaplastic/large cell medulloblastoma A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl large cell/anaplastic medulloblastoma Orphanet:251855|ICD10:C71.6|NCIT:C129436|ONCOTREE:AMBL|UMLS:C4330531 owl:Class NCBITaxon:476427 biolink:NamedThing Xenopsyllinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7511 biolink:NamedThing Pulicidae tmpak2llvmy_mondo_relaxed.owl common fleas GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016536 biolink:NamedThing autosomal recessive lymphoproliferative disease A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. tmpak2llvmy_mondo_relaxed.owl CD27 deficiency Orphanet:238505|ICD10:D47.9 owl:Class HGNC:4796 biolink:NamedThing HAAO tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1550 biolink:NamedThing CBS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004802 biolink:NamedThing pulmonary eosinophilia A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. tmpak2llvmy_mondo_relaxed.owl SCTID:367542003|MESH:D011657|UMLS:C0034068|DOID:9498|ICD9:518.3 owl:Class UBERON:0005137 biolink:NamedThing metanephric capsule The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2591 biolink:NamedThing CYP11B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100321 biolink:NamedThing viral disease or post-viral disorder A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself. tmpak2llvmy_mondo_relaxed.owl viral infectious disease or sequela http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:30501 biolink:NamedThing beryllium atom Alkaline earth metal atom with atomic number 4. tmpak2llvmy_mondo_relaxed.owl 4Be|beryllium|berilio|Beryllium|Be owl:Class CHEBI:88184 biolink:NamedThing metal allergen Any metal which causes the onset of an allergic reaction. tmpak2llvmy_mondo_relaxed.owl allergenic metals|metal allergens|allergenic metal owl:Class MONDO:0005434 biolink:NamedThing skin sensitivity to sun The response of human skin to sun exposure. tmpak2llvmy_mondo_relaxed.owl EFO:0004795 Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 owl:Class HP:0012373 biolink:NamedThing Abnormal eye physiology A functional anomaly of the eye. tmpak2llvmy_mondo_relaxed.owl Abnormal eye physiology UMLS:C4022924 peter 2013-10-13T03:45:37Z human_phenotype owl:Class GO:0032024 biolink:NamedThing positive regulation of insulin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. tmpak2llvmy_mondo_relaxed.owl up regulation of insulin secretion|stimulation of insulin secretion|up-regulation of insulin secretion|activation of insulin secretion|upregulation of insulin secretion owl:Class GO:0045807 biolink:NamedThing positive regulation of endocytosis Any process that activates or increases the frequency, rate or extent of endocytosis. tmpak2llvmy_mondo_relaxed.owl stimulation of endocytosis|up-regulation of endocytosis|upregulation of endocytosis|up regulation of endocytosis|activation of endocytosis owl:Class MONDO:0000489 biolink:NamedThing diabetic encephalopathy A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. tmpak2llvmy_mondo_relaxed.owl DOID:0050850 owl:Class HGNC:5326 biolink:NamedThing HYMAI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005051 biolink:NamedThing invasive lobular breast carcinoma An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. tmpak2llvmy_mondo_relaxed.owl breast invasive lobular carcinoma|infiltrating lobular carcinoma of breast|invasive lobular carcinoma|infiltrating lobular carcinoma of the breast|classic invasive lobular carcinoma|invasive lobular carcinoma of breast|lobular carcinoma (morphologic abnormality)|lobular carcinoma NOS (morphologic abnormality)|invasive lobular carcinoma, classic type|lobular carcinoma|infiltrating lobular adenocarcinoma|invasive lobular breast carcinoma|invasive lobular adenocarcinoma|invasive lobular carcinoma of the breast|lobular carcinoma of the breast|infiltrating lobular breast carcinoma EFO:0000553|DOID:3457|ONCOTREE:ILC|UMLS:C0206692|UMLS:C0279565|NCIT:C7950 owl:Class PATO:0000647 biolink:NamedThing necrotic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019131 biolink:NamedThing ossification anomalies-psychomotor developmental delay syndrome Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification. tmpak2llvmy_mondo_relaxed.owl ICD10:Q79.8|UMLS:CN227577|Orphanet:73230 owl:Class HP:0011008 biolink:NamedThing Temporal pattern The speed at which disease manifestations appear and develop. tmpak2llvmy_mondo_relaxed.owl Speed of onset UMLS:C4021204 peter 2011-02-20T10:22:32Z human_phenotype owl:Class UBERON:0008431 biolink:NamedThing sacral foramen A vertebral foramen that is part of a sacral vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005572 biolink:NamedThing polycythemia due to hypoxia Polycythemia resulting from hypoxia. tmpak2llvmy_mondo_relaxed.owl EFO:0005805|NCIT:C27312|DOID:2835|UMLS:C0856818 owl:Class MONDO:0016541 biolink:NamedThing acquired secondary polycythemia An instance of secondary polycythemia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired secondary polycythemia|acquired secondary erythrocytosis ICD10:D75.1|Orphanet:238547 owl:Class MONDO:0014260 biolink:NamedThing immunodeficiency, common variable, 10 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. tmpak2llvmy_mondo_relaxed.owl CVID10|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, 10|Deficit in anterior pituitary function and variable immunodeficiency|NFKB2 common variable immunodeficiency|common variable immunodeficiency caused by mutation in NFKB2|immunodeficiency, common variable, type 10 UMLS:C3809991|OMIM:615577 owl:Class SO:0002300 biolink:NamedThing unit_of_gene_expression Transcription units or transcribed coding sequences. tmpak2llvmy_mondo_relaxed.owl unit of gene expression owl:Class CHEBI:76838 biolink:NamedThing EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*). tmpak2llvmy_mondo_relaxed.owl EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors owl:Class MONDO:0016220 biolink:NamedThing congenital temporomandibular joint ankylosis Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. tmpak2llvmy_mondo_relaxed.owl congenital trismus Orphanet:210576|SCTID:763215008|ICD10:K07.6 owl:Class MONDO:0030705 biolink:NamedThing Trichomonas prostatitis Infection of the prostate gland caused by Trichomonas vaginalis. tmpak2llvmy_mondo_relaxed.owl Trichomonas vaginalis caused prostatitis (disease)|Trichomonas vaginalis prostatitis (disease)|Trichomonas prostatitis|trichomonal prostatitis ICD9:131.03|NCIT:C35176|UMLS:C0153315|SCTID:71590000 owl:Class MONDO:0017577 biolink:NamedThing spontaneous periodic hypothermia Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. tmpak2llvmy_mondo_relaxed.owl Shapiro syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|episodic spontaneous hypothermia|spontaneous periodic hypothermia syndrome|spontaneous recurrent hypothermia syndrome|Shapiro's syndrome UMLS:C2931542|ICD10:G90.8|Orphanet:29822|GARD:0004815|MESH:C537594 owl:Class MONDO:0022177 biolink:NamedThing chromosome 13q trisomy tmpak2llvmy_mondo_relaxed.owl Duplication 13q|trisomy 13q MESH:C535485|UMLS:C0795849 owl:Class MONDO:0007030 biolink:NamedThing autosomal dominant Aarskog syndrome tmpak2llvmy_mondo_relaxed.owl faciogenital dysplasia|Aarskog syndrome|Aarskog-Scott syndrome|Aarskog syndrome, autosomal dominant ICD10:Q87.1|OMIM:100050|DOID:6683 We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) owl:Class GO:0016842 biolink:NamedThing amidine-lyase activity Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016840 biolink:NamedThing carbon-nitrogen lyase activity Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). tmpak2llvmy_mondo_relaxed.owl other carbon-nitrogen lyase activity owl:Class MONDO:0019378 biolink:NamedThing la Crosse encephalitis La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. tmpak2llvmy_mondo_relaxed.owl Californian encephalitis|Neuroinvasive California encephalitis virus infection|La Crosse virus infectious encephalitis|La Crosse virus caused infectious encephalitis|California encephalitis|California virus encephalitis UMLS:C0276379|SCTID:61094002|GARD:0010925|ICD10:A83.5|MESH:D004670|MedDRA:10014584|ICD9:062.5|Orphanet:83483|DOID:0050118|UMLS:C0014053 owl:Class MONDO:0001376 biolink:NamedThing urinary bladder anterior wall cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of anterior wall of urinary bladder UMLS:C0153611|ICD9:188.3|ICD10:C67.3|SCTID:188242006|DOID:11814 owl:Class MONDO:0005978 biolink:NamedThing theileriasis Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. tmpak2llvmy_mondo_relaxed.owl theileriosis|infection by Theileria UMLS:C0039753|SCTID:68771000|DOID:3733|ICD9:136.8|MESH:D013801|EFO:0007506 owl:Class MONDO:0003581 biolink:NamedThing ovarian embryonal carcinoma An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. tmpak2llvmy_mondo_relaxed.owl embryonal carcinoma of the ovary|ovary embryonal carcinoma|ovarian embryonal carcinoma|embryonal carcinoma of ovary|embryonal carcinoma EFO:1000415|UMLS:C0346183|DOID:5681|ONCOTREE:OEC|SCTID:254872007|NCIT:C8108 owl:Class UBERON:0004909 biolink:NamedThing epithelium of gonad An epithelium surrounding a gonad. tmpak2llvmy_mondo_relaxed.owl gonadal epithelium|gonad epithelium|gonadal sheath owl:Class MONDO:0000769 biolink:NamedThing chicken egg allergy An egg allergy triggered by Gallus gallus eggs. tmpak2llvmy_mondo_relaxed.owl Gallus gallus egg allergy DOID:0060492 owl:Class MONDO:0012816 biolink:NamedThing atrial fibrillation, familial, 6 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene. tmpak2llvmy_mondo_relaxed.owl familial atrial fibrillation caused by mutation in NPPA|ATFB6|NPPA familial atrial fibrillation|atrial fibrillation, familial, 6|atrial fibrillation, familial, type 6 OMIM:612201|MESH:C567400|UMLS:C2677294 owl:Class HGNC:5101 biolink:NamedThing HOXA11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008283 biolink:NamedThing Cronkhite-Canada syndrome Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. tmpak2llvmy_mondo_relaxed.owl gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|gastric Cronkhite Canada polyposis|polyposis, skin pigmentation, alopecia, and fingernail changes|Cronkhite-Canada syndrome|Cronkhite-Canada disease|polyposis skin pigmentation alopecia fingernail changes MESH:D044483|GARD:0004427|Orphanet:2930|OMIM:175500|UMLS:C0282207|MedDRA:10062907|ICD10:D12.6|SCTID:76304001|NCIT:C7035|DOID:6225 https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease owl:Class MONDO:0000630 biolink:NamedThing immune system organ benign neoplasm A benign neoplasm that involves the immune organ. tmpak2llvmy_mondo_relaxed.owl immune organ benign neoplasm DOID:0060092 owl:Class MONDO:0008991 biolink:NamedThing Verloove Vanhorick-Brubakk syndrome Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. tmpak2llvmy_mondo_relaxed.owl cleft-limb-heart malformation syndrome syndrome|cleft limb heart malformation syndrome|Clh syndrome|Verloove Vanhorick Brubakk syndrome|cleft-limb-heart malformation syndrome|cleft lip-limb and heart malformations syndrome Orphanet:3429|GARD:0005482|ICD10:Q87.8|SCTID:764697003|MESH:C536541|UMLS:C1859082|OMIM:215850 https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome owl:Class NCBITaxon:147389 biolink:NamedThing Triticeae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1648038 biolink:NamedThing Triticodae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001138 biolink:NamedThing angiodysplasia of intestine A angiodysplasia that involves the intestine. tmpak2llvmy_mondo_relaxed.owl intestine angiodysplasia DOID:10846|ICD9:569.85|SCTID:235853006|ICD9:569.84|UMLS:C0267367 owl:Class HGNC:11791 biolink:NamedThing TCHH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003180 biolink:NamedThing cutaneous adenocystic carcinoma A adenoid cystic carcinoma that involves the skin of body. tmpak2llvmy_mondo_relaxed.owl adenoid cystic cutaneous carcinoma|adenoid cystic eccrine carcinoma of skin|skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic carcinoma of the skin|adenoid cystic skin carcinoma|adenoid cystic eccrine carcinoma|primary cutaneous adenocystic carcinoma|adenoid cystic carcinoma of skin DOID:4871|UMLS:C0346017|SCTID:254711000|NCIT:C4471 owl:Class MONDO:0007391 biolink:NamedThing coxa vara Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. tmpak2llvmy_mondo_relaxed.owl coxa vara, congenital|coxa vara|coxa vara (disease) coxa vara (disease) HP:0002812|EFO:1001298|MESH:D060905|GARD:0008750|OMIM:122750 owl:Class HGNC:282 biolink:NamedThing ADRA2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043137 biolink:NamedThing isolated microcephaly tmpak2llvmy_mondo_relaxed.owl microcephaly, non-syndromic|Nonsyndromal microcephaly|nonsyndromic microcephaly MESH:C537542|GARD:0003630 owl:Class MONDO:0014513 biolink:NamedThing nemaline myopathy 10 Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy caused by mutation in LMOD3|nemaline myopathy 10|nemaline myopathy type 10|LMOD3 nemaline myopathy|NEM10 OMIM:616165|DOID:0110931|UMLS:C4015360 owl:Class CL:1001603 biolink:NamedThing lung macrophage Circulating macrophages and tissue macrophages (alveolar macrophages) of lung. tmpak2llvmy_mondo_relaxed.owl lung macrophages CALOHA:TS-0576 owl:Class HGNC:26821 biolink:NamedThing CCDC141 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005160 biolink:NamedThing aortic aneurysm A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm|aortic aneurysm (disease)|ruptured aortic aneurysm|abdominal aortic aneurysm, ruptured|thoracic aortic aneurysm which HAS ruptured|aortic aneurysm of unspecified site, ruptured|ruptured thoracoabdominal aortic aneurysm|ruptured thoracic aneurysm|thoracic aortic aneurysm, ruptured|ruptured abdominal aortic aneurysm|ruptured thoracic aortic aneurysm|thoracoabdominal aortic aneurysm, ruptured aortic aneurysm (disease) ICD10:I71.3|SCTID:73067008|UMLS:C0741160|EFO:0001666|UMLS:C0265012|ICD10:I71.5|ICD9:441.6|DOID:3627|ICD10:I71.8|MP:0006278|ICD9:441.5|ICD9:441.1|UMLS:C0003486|UMLS:C0265010|UMLS:C1305122|HP:0004942|ICD10:I71.9|ICD10:I71.1|ICD9:441.3 owl:Class ECTO:0000523 biolink:NamedThing exposure to mutagen An exposure to mutagen. tmpak2llvmy_mondo_relaxed.owl exposure to mutagen owl:Class ECTO:0000724 biolink:NamedThing exposure to genotoxin An exposure to genotoxin. tmpak2llvmy_mondo_relaxed.owl exposure to genotoxin owl:Class UBERON:0014403 biolink:NamedThing male anatomical structure A part of the body present only in males. tmpak2llvmy_mondo_relaxed.owl male-specific structure|male-specific owl:Class HGNC:21308 biolink:NamedThing ELOVL5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:362 biolink:NamedThing AK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100353 biolink:NamedThing HHV-7 infectious disease A disease caused by infection with herpesvirus-7. tmpak2llvmy_mondo_relaxed.owl HHV-7 infection|herpesvirus-7 infectious disease http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0006786 biolink:NamedThing hepatic vein thrombosis A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. tmpak2llvmy_mondo_relaxed.owl Budd-Chiari syndrome|hepatic vein thrombosis DOID:11512|MedDRA:10006537|MedDRA:10019713|EFO:1000966|ICD9:453.0|ICD10:I82.0|SCTID:38739001 owl:Class MONDO:0010130 biolink:NamedThing dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl 5-fluorouracil toxicity|familial pyrimidinaemia|hereditary thymine-uraciluria|DPD deficiency|familial pyrimidinemia|thymine-uracilurea|Dpyd deficiency|thymine-Uraciluria, hereditary|pyrimidinemia, familial|dihydropyrimidine dehydrogenase deficiency|DYPD deficiency|dihydrouracil dehydrogenase deficiency Orphanet:1675|ICD10:E79.8|NCIT:C84672|ICD9:277.2|DOID:14218|OMIM:274270|MESH:D054067|GARD:0000019|UMLS:C1959620|SCTID:77365006|MedDRA:10052622 https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency owl:Class MONDO:0017060 biolink:NamedThing open iniencephaly tmpak2llvmy_mondo_relaxed.owl Orphanet:268363|ICD10:Q00.2|SCTID:203928008 owl:Class HGNC:3219 biolink:NamedThing EFEMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003899 biolink:NamedThing adult myxoid chondrosarcoma A myxoid chondrosarcoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults DOID:6495|NCIT:C27378|UMLS:C1332209 owl:Class MONDO:0008535 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 1 tmpak2llvmy_mondo_relaxed.owl hereditary hemorrhagic telangiectasia type 1|telangiectasia, hereditary hemorrhagic, type 1|ORW disease|Osler-Rendu-Weber disease|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|HHT|telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER|ENG-related Hereditary hemorrhagic telangiectasia|Osler Weber Rendu syndrome type 1|HHT1 UMLS:CN034812|GTR:AN0097757|GTR:AN0195329|GTR:AN0097748|OMIM:187300|GTR:AN0097750 owl:Class MONDO:0016125 biolink:NamedThing infectious, fungal or parasitic myopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:206988|ICD10:M60.0 owl:Class MONDO:0012674 biolink:NamedThing age related macular degeneration 10 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. tmpak2llvmy_mondo_relaxed.owl TLR4 age-related macular degeneration|age-related macular degeneration caused by mutation in TLR4|macular Degeneration, age-related, type 10|macular degeneration, age-related, 10|ARMD10|age related macular degeneration type 10 DOID:0110022|UMLS:C1969108|MESH:C566935|OMIM:611488 owl:Class OBO:CHR_9606-chr16p13.11 biolink:NamedThing chr16p13.11 (Human) tmpak2llvmy_mondo_relaxed.owl 16700000 14700000 hg38 owl:Class MONDO:0001940 biolink:NamedThing pleuropneumonia Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. tmpak2llvmy_mondo_relaxed.owl DOID:14319|SCTID:60485005|UMLS:C0032241|MESH:D011001 owl:Class UBERON:0003915 biolink:NamedThing endothelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011001 biolink:NamedThing Brugada syndrome 1 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpak2llvmy_mondo_relaxed.owl Cardiac conduction defect, nonspecific|Brugada syndrome caused by mutation in SCN5A|Brugada syndrome 1|SCN5A Brugada syndrome|sudden unexplained nocturnal death syndrome|BRGDA1|Brugada syndrome type 1|right bundle branch block, St segment elevation, and sudden death syndrome ICD10:I49.8|DOID:0110218|UMLS:CN029323|OMIM:601144 owl:Class HGNC:8805 biolink:NamedThing PDGFRL tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901534 biolink:NamedThing positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpak2llvmy_mondo_relaxed.owl upregulation of hematopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|up regulation of hemopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation owl:Class MONDO:0004727 biolink:NamedThing vestibule of mouth cancer A cancer that involves the oral opening. tmpak2llvmy_mondo_relaxed.owl oral opening cancer|malignant neoplasm of vestibule of mouth|malignant neoplasm of oral opening|cancer of oral opening|malignant oral opening neoplasm|malignant tumor of vestibule of mouth SCTID:187658004|ICD9:145.1|DOID:9188|ICD10:C06.1|UMLS:C0153374 owl:Class MONDO:0011093 biolink:NamedThing mucopolysaccharidosis type 9 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. tmpak2llvmy_mondo_relaxed.owl hyaluronidase deficiency|mucopolysaccharidosis, type IX|mucopolysaccharidosis type 9|MPSIX|MPS9|mucopolysaccharidosis, type 9|mucopolysaccharidosis type IX|MPS 9|mucopolysaccharidosis IX Orphanet:67041|UMLS:C1291490|ICD10:E76.2|ICD9:277.6|DOID:0050809|OMIM:601492|MESH:C563209|NCIT:C129073|SCTID:124473006 owl:Class HGNC:11584 biolink:NamedThing TBK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002962 biolink:NamedThing epidermolytic acanthoma A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. tmpak2llvmy_mondo_relaxed.owl DOID:4323|UMLS:C1333414|NCIT:C27516 owl:Class MONDO:0022794 biolink:NamedThing chromosome 8 deletion A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. tmpak2llvmy_mondo_relaxed.owl loss of chromosome 8|Anomaly of chromosome pair 8|del(8)|chromosome 8 deletion|Deletions of chromosome 8 NCIT:C36535|GARD:0012070|UMLS:C0265418|MESH:C537823 owl:Class MONDO:0015153 biolink:NamedThing autosomal monosomy tmpak2llvmy_mondo_relaxed.owl autosomal deletion ICD10:Q93.7|ICD10:Q93.4|ICD10:Q93.6|ICD10:Q93.9|ICD10:Q93.0|ICD10:Q93.8|ICD10:Q93.2|Orphanet:102020|ICD10:Q93.5|ICD10:Q93.3|ICD10:Q93.1 owl:Class MONDO:0005525 biolink:NamedThing T-cell leukemia A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. tmpak2llvmy_mondo_relaxed.owl leukemia (disease) of T cell|T cell leukemia (disease) UMLS:C0023492|DOID:715|EFO:0005592|MESH:D015458 owl:Class UBERON:0009569 biolink:NamedThing subdivision of trunk tmpak2llvmy_mondo_relaxed.owl trunk subdivision|region of trunk owl:Class GO:0002759 biolink:NamedThing regulation of antimicrobial humoral response Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29508 biolink:NamedThing KIDINS220 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004140 biolink:NamedThing primary heart field A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. tmpak2llvmy_mondo_relaxed.owl PHF|heart field|FHF|primary heart field|first heart field owl:Class GO:0050805 biolink:NamedThing negative regulation of synaptic transmission Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpak2llvmy_mondo_relaxed.owl down-regulation of synaptic transmission|down regulation of synaptic transmission|downregulation of synaptic transmission|inhibition of synaptic transmission owl:Class MONDO:0009312 biolink:NamedThing lipodystrophy due to peptidic growth factors deficiency Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). tmpak2llvmy_mondo_relaxed.owl peptide growth factors deficiency|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency|Hoepffner Dreyer Reimers syndrome|combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|peptidic growth factors deficiency|Werner-like syndrome due to combined Growth Factor deficiency|growth factors, combined defect OF|Hoepffner-Dreyer-Reimers syndrome|Werner-like syndrome due to combined growth factor deficiency MESH:C565529|GARD:0004280|SCTID:724176001|Orphanet:1979|OMIM:233805|UMLS:C2931279|ICD10:E88.1|GARD:0012604 owl:Class CL:0000312 biolink:NamedThing keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. tmpak2llvmy_mondo_relaxed.owl malpighian cell|keratinized cell of epidermis BTO:0000667|FMA:62879|CALOHA:TS-0500 Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. CL:0002185 cell owl:Class HP:0003351 biolink:NamedThing Decreased circulating renin level An decreased level of renin in the blood. tmpak2llvmy_mondo_relaxed.owl Low plasma renin activity|Decreased plasma renin activity|Suppressed plasma renin activity UMLS:C1845206 HP:0003263 human_phenotype owl:Class UBERON:0000000 biolink:NamedThing processual entity An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009060 biolink:NamedThing cystic disease of lung tmpak2llvmy_mondo_relaxed.owl cystic disease of lung UMLS:C1384901|OMIM:219600|MESH:C563237 owl:Class MONDO:0009133 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. tmpak2llvmy_mondo_relaxed.owl VLDLRCH|cerebellar disorder, nonprogressive, with mental retardation|DES|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dialysis dysequilibrium syndrome|CAMRQ|CAMRQ syndrome|cerebellar hypoplasia, VLDLR associated|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|non-progressive cerebellar ataxia-intellectual disability syndrome|dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium GARD:0001998|MedDRA:10013140|NCIT:C114781|SCTID:230782004|OMIMPS:224050|ICD10:G11.8|DOID:0050997|Orphanet:1766|MESH:C535731 https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome owl:Class OBO:CHR_9606-chr7p22.1 biolink:NamedThing chr7p22.1 (Human) tmpak2llvmy_mondo_relaxed.owl 7200000 4500000 hg38 owl:Class MONDO:0020545 biolink:NamedThing staphylococcal toxic-shock syndrome Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. tmpak2llvmy_mondo_relaxed.owl Staphylococcus toxic shock syndrome|staphylococcal TSS|Staphylococcus caused toxic shock syndrome MedDRA:10044250|SCTID:240450004|Orphanet:99919|ICD9:040.89|ICD10:A48.3 owl:Class MONDO:0004641 biolink:NamedThing skin carcinoma in situ A in situ carcinoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl stage 0 skin cancer|stage 0 zone of skin carcinoma|carcinoma of skin stage 0|carcinoma of the skin stage 0|skin cancer stage 0|skin carcinoma stage 0|zone of skin in situ carcinoma|nonmelanoma carcinoma in situ|cutaneous carcinoma in situ|stage 0 skin cancer aJCC v7|stage 0 skin carcinoma|stage 0 nonmelanoma skin carcinoma in situ|carcinoma in situ of skin|skin carcinoma in situ|carcinoma in situ of the skin|zone of skin carcinoma in situ|stage 0 skin cancer aJCC v6|carcinoma in situ of zone of skin ICD9:232.5|ICD9:232.9|ICD9:232.0|ICD10:D04.3|ICD10:D04.4|ICD10:D04.9|ICD9:232.4|ICD9:232.7|ICD10:D04.6|DOID:8687|ICD9:232.2|NCIT:C3640|ICD9:232.8|ICD10:D04.2|ICD10:D04|ICD9:232.6|UMLS:C0154073|ICD9:232|ICD9:232.3|ICD10:D04.7|SCTID:92749008|ICD10:D04.0 owl:Class UBERON:0004823 biolink:NamedThing intrahepatic bile duct epithelium An epithelium that is part of a intrahepatic bile duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of intrahepatic bile duct|intrahepatic bile duct epithelial tissue|epithelial tissue of intrahepatic bile duct owl:Class MONDO:0001834 biolink:NamedThing visual pathway disease A disorder of the neural pathway from the optic nerve to the visual cortex. tmpak2llvmy_mondo_relaxed.owl disease of optic tract|optic tract disease|disorder of optic tract|optic tract disorder|optic tract disease or disorder|visual pathway disorder|disease or disorder of optic tract SCTID:95776004|NCIT:C35342|SCTID:54767005|DOID:1393|ICD10:H47.9|UMLS:C0155287 Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract owl:Class GO:0062033 biolink:NamedThing positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009792 biolink:NamedThing embryo development ending in birth or egg hatching The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. tmpak2llvmy_mondo_relaxed.owl embryogenesis owl:Class NCIT:C101267 biolink:NamedThing Estrogen Receptor and/or Progesterone Receptor Positive tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021964 biolink:NamedThing bagatelle Cassidy syndrome tmpak2llvmy_mondo_relaxed.owl macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness MESH:C537796|UMLS:C2931616|GARD:0000398 https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome owl:Class MONDO:0001021 biolink:NamedThing ametropic amblyopia tmpak2llvmy_mondo_relaxed.owl refractive amblyopia DOID:10377|ICD10:H53.02|ICD9:368.03|SCTID:90927000|UMLS:C0152190 owl:Class MONDO:0001020 biolink:NamedThing amblyopia Decreased vision that results from abnormal visual development. tmpak2llvmy_mondo_relaxed.owl lazy eye|amblyopia (disease)|amblyopia amblyopia (disease) DOID:10376|HP:0000646|ICD9:368.00|UMLS:C0002418|NCIT:C118764|SCTID:387742006|ICD10:H53.00|CSP:1114-9655 owl:Class HsapDv:0000098 biolink:NamedThing 4-year-old human stage Child stage that refers to a child who is over 4 and under 5 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001642 biolink:NamedThing hordeolum externum A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis. tmpak2llvmy_mondo_relaxed.owl external stye ICD10:H00.03|UMLS:C0019919|SCTID:1489008|ICD9:373.11|ICD10:H00.01|DOID:13134 owl:Class HP:0000174 biolink:NamedThing Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. tmpak2llvmy_mondo_relaxed.owl Palatal anomaly|Palate abnormality|Abnormality of the palate|Abnormality of the roof of the mouth UMLS:C4021815 human_phenotype owl:Class MONDO:0030991 biolink:NamedThing bile acid conjugation defect 1 tmpak2llvmy_mondo_relaxed.owl BACD1 OMIM:619232 owl:Class MONDO:0017809 biolink:NamedThing parkinsonism due to ATP13A2 deficiency tmpak2llvmy_mondo_relaxed.owl CLN12 disease ICD10:E75.4|Orphanet:314632|UMLS:CN203776 owl:Class MONDO:0044737 biolink:NamedThing autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction tmpak2llvmy_mondo_relaxed.owl autosomal recessive complex SPG due to Kennedy pathway dysfunction Orphanet:506353 owl:Class MONDO:0014468 biolink:NamedThing congenital myasthenic syndrome 7 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome 7 presynaptic|SYT2 congenital myasthenic syndrome|CMS7|congenital myasthenic syndrome caused by mutation in SYT2|myasthenic syndrome, congenital, 7, presynaptic|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy|congenital myasthenic syndrome type 7 DOID:0110659|OMIM:616040|UMLS:C4015038 owl:Class MONDO:0006671 biolink:NamedThing Bacteroides infectious disease Infections with bacteria of the genus bacteroides. tmpak2llvmy_mondo_relaxed.owl infections, Bacteroides|infection, Bacteroides|Bacteroides disease or disorder|infection caused by Bacteroides|Bacteroides caused disease or disorder|Bacteroides infection|infection due to Bacteroides ICD9:041.84|SCTID:2918000|MESH:D001442|EFO:1000832|UMLS:C0004669 owl:Class MONDO:0013394 biolink:NamedThing porencephaly-microcephaly-bilateral congenital cataract syndrome tmpak2llvmy_mondo_relaxed.owl HDBSCC|porencephaly-microcephaly-bilateral congenital cataract syndrome|hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM:613730|UMLS:C3151000|Orphanet:306547 owl:Class MONDO:0700067 biolink:NamedThing myopathy caused by varation in FKTN Any myopathy in which the cause of the disease is a varation in the FKTN gene. tmpak2llvmy_mondo_relaxed.owl myopathy caused by mutation in FKTN|FKTN myopathy|FKTN-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:121228 biolink:NamedThing Pthirus pubis tmpak2llvmy_mondo_relaxed.owl Phtirus pubis|Phthirus pubis|genital louse|public louse|crab louse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012495 biolink:NamedThing spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. tmpak2llvmy_mondo_relaxed.owl SEMD, Geneviève type|spondyloepimetaphyseal dysplasia Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type|SEMD, Genevieve type|spondyloepimetaphyseal dysplasia, Geneviève type|SEMD Genevieve type|SEMDG|Nans deficiency ICD10:Q77.7|UMLS:C1864872|GARD:0010057|MESH:C535785|Orphanet:168454|OMIM:610442|DOID:0080576 owl:Class MONDO:0100397 biolink:NamedThing acute myeloid leukemia, t(9;22)(q34.1;q11.2) Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.) tmpak2llvmy_mondo_relaxed.owl AML, t(9;22)(q34;q11)|AML, t(9;22)(q34.1;q11.2)|AML, t(9;22)(q34;q11.2) owl:Class MONDO:0007227 biolink:NamedThing Sillence syndrome Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. tmpak2llvmy_mondo_relaxed.owl brachydactyly-distal symphalangism syndrome|brachydactyly-symphalangism syndrome MESH:C537338|Orphanet:3168|SCTID:732956000|OMIM:113450|ICD10:Q74.8|GARD:0004869|UMLS:C1862092 owl:Class MONDO:0010639 biolink:NamedThing laryngeal abductor paralysis-intellectual disability syndrome Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely. tmpak2llvmy_mondo_relaxed.owl laryngeal abductor paralysis|Plott syndrome|vocal cord dysfunction, familial SCTID:724178000|Orphanet:2375|UMLS:CN201604|OMIM:308850|ICD10:J38.0 X linked version based on information from Joanna. owl:Class ENVO:01001673 biolink:NamedThing fluid surface layer A surface layer which is composed primarily of some liquid or gas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006723 biolink:NamedThing denture stomatitis Inflammation of the mouth due to denture irritation. tmpak2llvmy_mondo_relaxed.owl denture sore mouth EFO:1000893|ICD9:528.9|SCTID:69254008|ICD10:K12.1|MESH:D013282|UMLS:C0038364|DOID:11875 owl:Class HGNC:24862 biolink:NamedThing MOGS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017015 biolink:NamedThing primary interstitial lung disease specific to childhood tmpak2llvmy_mondo_relaxed.owl primary ILD specific to childhood|primary interstitial lung disease specific to childhood|children's interstitial lung disease|child Orphanet:264665|GARD:0010559|UMLS:CN202326 https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease owl:Class HGNC:11117 biolink:NamedThing SMN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008723 biolink:NamedThing very long chain acyl-CoA dehydrogenase deficiency Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. tmpak2llvmy_mondo_relaxed.owl acyl-CoA dehydrogenase, very long-chain, deficiency OF|ACADVLD|VLCADD|very long-chain acyl-CoA dehydrogenase deficiency|VLCAD deficiency|VLCAD|very long-chain acyl-Coenzyme A dehydrogenase deficiency|very long chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, very long-chain deficiency SCTID:237997005|Orphanet:26793|NCIT:C98647|ICD10:E71.3|UMLS:C3887523|ICD10:E71.310|GARD:0005508|DOID:0080155|OMIM:201475 owl:Class CHEBI:24471 biolink:NamedThing halogen molecular entity tmpak2llvmy_mondo_relaxed.owl halogen compounds|halogen molecular entity|halogen molecular entities owl:Class MONDO:0018258 biolink:NamedThing Angora hair nevus tmpak2llvmy_mondo_relaxed.owl Schauder syndrome Orphanet:370039|UMLS:CN204833|ICD10:Q82.5 owl:Class UBERON:0012480 biolink:NamedThing cloacal mucosa A mucosa that is part of a cloaca [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of cloaca|cloaca mucous membrane|mucosa of cloaca|organ mucosa of cloaca|cloaca mucosa|mucous membrane of cloaca|cloacal mucous membrane|cloaca mucosa of organ|cloaca organ mucosa owl:Class MONDO:0001066 biolink:NamedThing late yaws Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. tmpak2llvmy_mondo_relaxed.owl yaws gummata and ulcers|gummata and ulcers due to yaws|gummatous frambeside|ulcers of yaws|gummata of yaws|nodular late yaws|multiple papillomata due to yaws and wet crab yaws ICD9:102.1|NCIT:C41354|UMLS:C0276007|ICD10:A66.4|SCTID:186968004|UMLS:C1517744|DOID:10567|ICD10:A66.1|ICD9:102.4 owl:Class UBERON:0004444 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 1 A proximal epiphysis that is part of a distal phalanx of manual digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal epiphysis of distal phalanx of thumb|base of distal phalanx of thumb|proximal epiphysis of distal phalanx of manual digit I owl:Class NCBITaxon:10293 biolink:NamedThing Alphaherpesvirinae tmpak2llvmy_mondo_relaxed.owl Alphaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017072 biolink:NamedThing lumbosacral spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268758 owl:Class GO:0052803 biolink:NamedThing imidazole-containing compound metabolic process The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. tmpak2llvmy_mondo_relaxed.owl imidazole metabolism owl:Class MONDO:0011078 biolink:NamedThing anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis tmpak2llvmy_mondo_relaxed.owl anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis|Jung Wolff back Stahl syndrome UMLS:C1832362|MESH:C537694|GARD:0003062|OMIM:601427 owl:Class HGNC:8636 biolink:NamedThing PC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032824 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 21 tmpak2llvmy_mondo_relaxed.owl GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21|Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GPIBD21 OMIM:618590 owl:Class MONDO:0006960 biolink:NamedThing sciatic neuropathy Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) tmpak2llvmy_mondo_relaxed.owl MedDRA:10048950|DOID:11446|MESH:D020426|EFO:1001166|SCTID:52585001|UMLS:C0149940 owl:Class MONDO:0032592 biolink:NamedThing cardiomyopathy, dilated, 2c tmpak2llvmy_mondo_relaxed.owl CMD2C|CARDIOMYOPATHY, DILATED, 2C OMIM:618189 owl:Class MONDO:0008343 biolink:NamedThing pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. tmpak2llvmy_mondo_relaxed.owl pulmonary valve atresia with ventricular septal defect|pulmonary atresia with ventricular septal defect UMLS:C0344976|Orphanet:1207|OMIM:178370|GARD:0004588|SCTID:253591008|ICD10:Q25.5|NCIT:C99033|MESH:C562833 https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect owl:Class MONDO:0010304 biolink:NamedThing Graves disease, susceptibility to, X-linked 1 tmpak2llvmy_mondo_relaxed.owl Graves disease, susceptibility to, X-linked 1|Graves disease, susceptibility to, X-linked type 1|Grdx1|Graves disease, susceptibility to, X-linked 2 OMIM:300351 owl:Class UBERON:0010349 biolink:NamedThing otic capsule pre-cartilage condensation A otic capsule endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl otic capsule anlage owl:Class UBERON:0004408 biolink:NamedThing distal epiphysis of ulna A distal epiphysis that is part of a ulna [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower end of ulna|distal end of ulna owl:Class CHEBI:51269 biolink:NamedThing acenes Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:117571 biolink:NamedThing Euteleostomi tmpak2llvmy_mondo_relaxed.owl bony vertebrates GC_ID:1 NCBITaxon:40673 ncbi_taxonomy owl:Class GO:0061133 biolink:NamedThing endopeptidase activator activity Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016504 biolink:NamedThing peptidase activator activity Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpak2llvmy_mondo_relaxed.owl protease activator activity owl:Class MONDO:0017227 biolink:NamedThing autoimmune pancreatitis type 1 Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. tmpak2llvmy_mondo_relaxed.owl autoimmune pancreatitis type 1|IgG4-related pancreatitis|AIP type 1|lymphoplasmacytic sclerosing pancreatitis ICD10:K86.1|EFO:1000780|UMLS:CN202712|SCTID:722872000|Orphanet:280302|UMLS:C4302243|PMID:25985088 owl:Class CL:0000225 biolink:NamedThing anucleate cell A cell that lacks a nucleus. tmpak2llvmy_mondo_relaxed.owl non-nucleated cell FMA:68647 cell owl:Class MONDO:0003832 biolink:NamedThing complement deficiency A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. tmpak2llvmy_mondo_relaxed.owl complement deficiency disease|immunodeficiency due to a complement cascade component deficiency|complement deficiency|disorder of complement activation|complement activation disease Orphanet:459345|ICD9:279.8|ICD10:D84.1|NCIT:C4691|SCTID:24743004|UMLS:C0272242|DOID:626|ICD10:D80-D89 owl:Class MONDO:0015136 biolink:NamedThing immunodeficiency due to a genetic complement cascade protein anomaly tmpak2llvmy_mondo_relaxed.owl immunodeficiency due to a complement cascade protein anomaly 2022-03-01 Orphanet:101992|ICD10:D84.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class HP:0005607 biolink:NamedThing Abnormal tracheobronchial morphology tmpak2llvmy_mondo_relaxed.owl Tracheobronchial anomalies Fyler:4232|UMLS:C4021631 peter 2008-03-28T09:03:00Z HP:0005940 human_phenotype owl:Class MONDO:0011635 biolink:NamedThing goiter, multinodular 3 tmpak2llvmy_mondo_relaxed.owl goiter, multinodular 3|MNG3 OMIM:606082|MESH:C565260|UMLS:C1853686 owl:Class MONDO:0000487 biolink:NamedThing hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. tmpak2llvmy_mondo_relaxed.owl ICD9:333.99|UMLS:C1960561|SCTID:427232004|DOID:0050846 owl:Class MONDO:0000478 biolink:NamedThing multifocal dystonia A dystonia that involves two or more unrelated body parts. tmpak2llvmy_mondo_relaxed.owl DOID:0050837 owl:Class MONDO:0015714 biolink:NamedThing secondary central precocious puberty tmpak2llvmy_mondo_relaxed.owl Orphanet:169618|ICD10:E22.8|UMLS:CN200226 owl:Class UBERON:0005017 biolink:NamedThing mucosa of lacrimal sac A mucosa that is part of a lacrimal sac [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lacrimal sac mucous membrane|organ mucosa of lacrimal sac|lacrimal sac mucosa|mucous membrane of lacrimal sac|lacrimal sac organ mucosa|mucosa of organ of lacrimal sac|lacrimal sac mucosa of organ owl:Class MONDO:0014704 biolink:NamedThing skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome tmpak2llvmy_mondo_relaxed.owl Kosaki overgrowth syndrome|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration|KOGS OMIM:616592|Orphanet:477831|UMLS:C4225270 owl:Class HGNC:6882 biolink:NamedThing MAPK8IP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010386 biolink:NamedThing immunodeficiency 33 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. tmpak2llvmy_mondo_relaxed.owl invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|atypical Mycobacteriosis, familial, X-linked 1|invasive pneumococcal disease, recurrent isolated, 2|IKBKG invasive pneumococcal disease, recurrent isolated|familial X-linked 1 atypical mycobacteriosis|immunodeficiency type 33|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|X-linked MSMD due to IKBKG deficiency|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|IMD33|X-linked MSMD due to NEMO deficiency|NEMO deficiency syndrome|invasive pneumococcal disease, recurrent isolated, type 2|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|NF-kappa B essential modulator deficiency|immunodeficiency 33, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|IPD2 UMLS:C1970879|MESH:C567070|GARD:0012915|UMLS:C1845073|Orphanet:319612|OMIM:300640|OMIM:300636|ICD10:D84.8|MESH:C564468 owl:Class UBERON:3011045 biolink:NamedThing gasserian ganglion tmpak2llvmy_mondo_relaxed.owl gasserian ganglia owl:Class CL:0000575 biolink:NamedThing corneal epithelial cell An epithelial cell of the cornea. tmpak2llvmy_mondo_relaxed.owl epithelial cell of cornea CALOHA:TS-0173|BTO:0004298|FMA:70551 CL:1000431 cell owl:Class MONDO:0004821 biolink:NamedThing nasopharyngeal disease A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. tmpak2llvmy_mondo_relaxed.owl disease of nasopharynx|disease or disorder of nasopharynx|nasopharynx disease or disorder|nasopharynx disease|nasopharyngeal disorder|disorder of postnasal space|disorder of nasopharynx MESH:D009302|DOID:9561|UMLS:C0027438|NCIT:C35723|SCTID:123952009 owl:Class MONDO:0018434 biolink:NamedThing acute myeloid leukemia with t(9;11)(p22;q23) tmpak2llvmy_mondo_relaxed.owl AML with t(9;11)(p22;q23) ICD10:C92.0|Orphanet:402017 owl:Class MONDO:0013156 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 tmpak2llvmy_mondo_relaxed.owl MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|muscular dystrophy, congenital, Fktn-related|congenital muscular dystrophy-FKTN related OMIM:613152|UMLS:C2751052 owl:Class HGNC:18171 biolink:NamedThing CD244 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042157 biolink:NamedThing lipoprotein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpak2llvmy_mondo_relaxed.owl lipoprotein metabolism owl:Class MONDO:0009370 biolink:NamedThing L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. tmpak2llvmy_mondo_relaxed.owl L-2-HGA|L2HGA|L-2-hydroxyglutaric aciduria|L-2-hydroxyglutaric acidemia Orphanet:79314|GARD:0010472|DOID:0050574|UMLS:C3888081|ICD10:E72.8|OMIM:236792|SCTID:237961001|UMLS:C1855995 https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria owl:Class MONDO:0001148 biolink:NamedThing iliac vein thrombophlebitis A thrombophlebitis that involves the iliac vein. tmpak2llvmy_mondo_relaxed.owl iliac vein thrombophlebitis|phlebitis and thrombophlebitis of the iliac vein|thrombophlebitis of iliac vein UMLS:C0347887|ICD9:451.81|SCTID:42861008|DOID:10880|ICD10:I80.21 owl:Class MONDO:0002800 biolink:NamedThing thrombophlebitis Inflammation of the veins associated with the presence of a thrombus. tmpak2llvmy_mondo_relaxed.owl thrombophlebitis of a superficial leg vein|thrombophlebitis of superficial veins of lower extremity|phlebitis and thrombophlebitis of superficial vessels of lower extremities|superficial thrombophlebitis of leg NCIT:C3410|DOID:3875|SCTID:40283005|ICD9:451.0|UMLS:C0040046|ICD9:451.2|ICD10:I80.0|MESH:D013924 owl:Class GO:0071902 biolink:NamedThing positive regulation of protein serine/threonine kinase activity Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032759 biolink:NamedThing intellectual developmental disorder with short stature and variable skeletal anomalies tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES|IDDSSA OMIM:618453 owl:Class HGNC:26038 biolink:NamedThing TMEM127 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008877 biolink:NamedThing blue diaper syndrome Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. tmpak2llvmy_mondo_relaxed.owl Drummond syndrome|familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome GARD:0005939|UMLS:C0268478|MESH:C536239|ICD10:E70.8|Orphanet:94086|SCTID:59531002|OMIM:211000 https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome owl:Class MONDO:0008467 biolink:NamedThing Czeizel-Losonci syndrome Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl split hand-urinary anomalies-spina bifida syndrome|split hand with obstructive uropathy, spina bifida and diaphragmatic defects|split hand urinary anomalies spina bifida|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects Orphanet:2437|MESH:C566662|OMIM:183802|UMLS:C1866739|ICD10:Q87.8|GARD:0004969 owl:Class MONDO:0013185 biolink:NamedThing leprosy, susceptibility to, 5 Any leprosy in which the cause of the disease is a mutation in the TLR1 gene. tmpak2llvmy_mondo_relaxed.owl leprosy, susceptibility to, 5|LPRS5|TLR1 leprosy|susceptibility to leprosy 5|leprosy, susceptibility to, type 5|leprosy, protection against|leprosy caused by mutation in TLR1 OMIM:613223 owl:Class MONDO:0002734 biolink:NamedThing anal mucinous adenocarcinoma An anal adenocarcinoma characterized by the presence of mucoid stroma formation. tmpak2llvmy_mondo_relaxed.owl colloid adenocarcinoma of anus|mucinous adenocarcinoma of anus|anal colloidal adenocarcinoma|anal mucinous adenocarcinoma|anus mucinous adenocarcinoma|colloidal adenocarcinoma of anus|colloid adenocarcinoma of the anus|mucinous adenocarcinoma of the anus|anal colloid adenocarcinoma|colloidal adenocarcinoma of the anus DOID:3691|UMLS:C1332272|NCIT:C5606 owl:Class GO:2000834 biolink:NamedThing regulation of androgen secretion Any process that modulates the frequency, rate or extent of androgen secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016127 biolink:NamedThing sterol catabolic process The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpak2llvmy_mondo_relaxed.owl sterol degradation|sterol breakdown|sterol catabolism owl:Class GO:0044297 biolink:NamedThing cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. tmpak2llvmy_mondo_relaxed.owl cell soma owl:Class MONDO:0002304 biolink:NamedThing protein S deficiency Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. tmpak2llvmy_mondo_relaxed.owl Protein S deficiency|Protein S deficiency disease DOID:2451|MESH:D018455|HGNC:9456|ICD9:289.81|ICD10:D68.59|SCTID:1563006|UMLS:C0242666|GARD:0004524|NCIT:C99026 Editor note: TODO axiomatize https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency owl:Class MONDO:0003804 biolink:NamedThing blood protein disease tmpak2llvmy_mondo_relaxed.owl blood Protein disorder|disorders, blood Protein|Protein disorder, blood|Protein disorders, blood|disorder, blood Protein|blood protein disorder UMLS:C0005830|DOID:620|MESH:D001796 owl:Class MONDO:0011955 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 4 tmpak2llvmy_mondo_relaxed.owl Niddm4|diabetes mellitus, noninsulin-dependent, 4|diabetes mellitus, noninsulin-dependent, type 4|noninsulin-dependent diabetes mellitus 4 UMLS:C1842642|OMIM:608036|MESH:C564299 owl:Class UBERON:0006440 biolink:NamedThing os clitoris The ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans; it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals tmpak2llvmy_mondo_relaxed.owl baubellum|clitoral bone|clitoris bone|os clitoridis owl:Class ECTO:0000543 biolink:NamedThing exposure to molecular messenger An exposure to molecular messenger. tmpak2llvmy_mondo_relaxed.owl exposure to molecular messenger owl:Class MONDO:0012989 biolink:NamedThing microcephaly 7, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in STIL|STIL autosomal recessive primary microcephaly|microcephaly 7, primary, autosomal recessive|MCPH7 DOID:0070278|OMIM:612703|MESH:C567198|UMLS:C2675187 owl:Class CHEBI:22881 biolink:NamedThing biopterins tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002008 biolink:NamedThing labyrinthitis Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. tmpak2llvmy_mondo_relaxed.owl otitis interna|inner ear infection|inflammation of internal ear|internal ear inflammation ICD10:H83.0|MESH:D007762|UMLS:C0022893|NCIT:C128369|SCTID:23919004|ICD9:386.30|DOID:3930|DOID:1468|ICD10:H83.09|ICD9:386.3 Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. owl:Class UBERON:0005673 biolink:NamedThing left lung endothelium An endothelium that is part of a left lung. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010316 biolink:NamedThing germ layer / neural crest tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010745 biolink:NamedThing sacral vertebra cartilage element A sacral vertebra endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl sacral vertebral cartilage condensation|sacral vertebral cartilage condensation group owl:Class MONDO:0005591 biolink:NamedThing pit and fissure surface dental caries tmpak2llvmy_mondo_relaxed.owl EFO:0006338|ICD9:521.06 owl:Class MONDO:0006400 biolink:NamedThing salivary gland acinic cell carcinoma A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. tmpak2llvmy_mondo_relaxed.owl acinic cell tumor of the salivary gland|acinic cell carcinoma of the salivary gland|acinic cell neoplasm of salivary gland|acinic cell tumor of salivary gland|acinic cell neoplasm of the salivary gland|acinic cell carcinoma of salivary gland|salivary gland acinic cell neoplasm|salivary gland acinic cell cancer|salivary gland acinic cell tumor EFO:1000513|UMLS:C0279738|NCIT:C8013 owl:Class MONDO:0014512 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 31|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation|MRD31|mental retardation, autosomal dominant type 31|autosomal dominant mental retardation 31|mental retardation, autosomal dominant 31|autosomal dominant intellectual disability 31|autosomal dominant non-syndromic intellectual disability 31|intellectual disability, autosomal dominant 31 ICD10:G40.4|Orphanet:438216|DOID:0070061|UMLS:CN237609|OMIM:616158|UMLS:C4015357 owl:Class MONDO:0005511 biolink:NamedThing janus kinase-3 deficiency Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. tmpak2llvmy_mondo_relaxed.owl DOID:0060008|Wikipedia:Janus_kinase_3_deficiency|EFO:0005565 owl:Class MONDO:0043317 biolink:NamedThing amyopathic dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. tmpak2llvmy_mondo_relaxed.owl dermatomyositis sine myositis|amyopathic dermatomyositis|ADM GARD:0009907|UMLS:C0406645|SCTID:238935002|MESH:C538250 owl:Class MONDO:0010763 biolink:NamedThing spermatogenic failure, Y-linked, 1 tmpak2llvmy_mondo_relaxed.owl SPGFY1|Sertoli cell-only syndrome, Y-linked|Sertoli cell-only syndrome, type 2|spermatogenic failure, Y-linked, type 1|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, 1|incomplete Sertoli cell-only syndrome|hypospermatogenesis OMIM:400042|DOID:0070186 owl:Class MONDO:0021099 biolink:NamedThing intraductal papillomatosis A neoplastic process characterized by the presence of multiple intraductal papillomas. tmpak2llvmy_mondo_relaxed.owl duct papillomatosis|intraductal papillomatosis ICDO:8505/0|UMLS:C0334377|NCIT:C7363 owl:Class HGNC:1059 biolink:NamedThing BLMH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010282 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, X-linked tmpak2llvmy_mondo_relaxed.owl MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked OMIM:300259 owl:Class MONDO:0000070 biolink:NamedThing mycobacterium tuberculosis, susceptibility tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410002 biolink:NamedThing small intestine lymphatic vessel A lymphatic vessel that supplies the small intestine. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel of small intestine owl:Class MONDO:0009042 biolink:NamedThing craniotelencephalic dysplasia Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl craniotelencephalic dysplasia|Complex of anomalies involving the cranium and brain Orphanet:1528|SCTID:715422002|OMIM:218670|GARD:0001605|ICD10:Q04.3|MESH:C535597|UMLS:C1857471 https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia owl:Class MONDO:0029138 biolink:NamedThing developmental and epileptic encephalopathy, 67 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 67|EIEE67|DEE67 OMIM:618141 owl:Class HGNC:12370 biolink:NamedThing CEP41 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017007 biolink:NamedThing partial deletion of the long arm of chromosome X tmpak2llvmy_mondo_relaxed.owl partial deletion of the long arm of chromosome type X|partial monosomy of the long arm of chromosome X|partial deletion of chromosome Xq|partial monosomy of chromosome Xq ICD10:Q99.8|Orphanet:263756 owl:Class MONDO:0044817 biolink:NamedThing acquired idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl non-Familial Idiopathic dystonia|idiopathic non-familial dystonia|acquired idiopathic torsion dystonia NCIT:C35438|SCTID:230321007 owl:Class HGNC:2032 biolink:NamedThing CLDN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004553 biolink:NamedThing forelimb digital artery A digital artery that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl forelimb digital arteries|digital artery of manus|wing digital artery owl:Class UBERON:0004552 biolink:NamedThing digital artery An artery that is part of a digit [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019804 biolink:NamedThing tracheomalacia Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. tmpak2llvmy_mondo_relaxed.owl congenital tracheomalacia|congenital major airway collapse|type 1 tracheomalacia|tracheomalacia, congenital ICD9:748.3|HP:0002779|GARD:0010515|NCIT:C98634|DOID:0060313|SCTID:95467005|UMLS:C0948187|ICD10:Q32.0|MedDRA:10010654|Orphanet:95430 owl:Class GO:0044060 biolink:NamedThing regulation of endocrine process Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpak2llvmy_mondo_relaxed.owl regulation of endocrine system process owl:Class MONDO:0017013 biolink:NamedThing trisomy 8p Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. tmpak2llvmy_mondo_relaxed.owl trisomy type 8p|Duplication 8p ICD10:Q92.2|MESH:C538019|Orphanet:264450 owl:Class MONDO:0016945 biolink:NamedThing partial duplication of the short arm of chromosome 8 Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Duplication 8p|partial trisomy 8p|partial trisomy of the short arm of chromosome 8|partial trisomy of chromosome 8p|partial duplication of chromosome 8p|chromosome 8p duplication|8p trisomy|partial duplication of the short arm of chromosome type 8|trisomy 8p|8p duplication Orphanet:262758|GARD:0005361 owl:Class UBERON:0022357 biolink:NamedThing mesentery of ileum tmpak2llvmy_mondo_relaxed.owl ileum mesentery|mesoileum|ileal mesentery owl:Class NCBITaxon:745 biolink:NamedThing Pasteurella tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:1736960 ncbi_taxonomy owl:Class GO:0098651 biolink:NamedThing basement membrane collagen trimer Any collagen timer that is part of a basement membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002054 biolink:NamedThing Fraction E immature B cell An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive. tmpak2llvmy_mondo_relaxed.owl Markers associated with mouse cells. These cells are also reportedly sIgD-negative. tmeehan 2010-04-28T03:13:47Z cell owl:Class MONDO:0008687 biolink:NamedThing Woronets trait tmpak2llvmy_mondo_relaxed.owl Woronets trait OMIM:194320 owl:Class GO:0010259 biolink:NamedThing multicellular organism aging An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012501 biolink:NamedThing mutagen sensitivity tmpak2llvmy_mondo_relaxed.owl mutagen sensitivity GARD:0008273|OMIM:610452 Editor note: TODO obsolete this? https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity owl:Class MONDO:0031006 biolink:NamedThing neurodegeneration with ataxia and late-onset optic atrophy tmpak2llvmy_mondo_relaxed.owl NDAXOA OMIM:619259 owl:Class HGNC:8125 biolink:NamedThing OGG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008998 biolink:NamedThing Cockayne syndrome type 3 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. tmpak2llvmy_mondo_relaxed.owl Cockayne syndrome type III|Cockayne syndrome type C|Cockayne syndrome type 3|Cockayne syndrome, type III ICD10:Q87.8|GARD:0001417|Orphanet:90324 Editor note: consider obsoletion. obsolete in OMIM. No info in GHR https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii owl:Class CHEBI:76712 biolink:NamedThing EC 4.2.* (C-O lyase) inhibitor A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*). tmpak2llvmy_mondo_relaxed.owl C-O lyase inhibitors|EC 4.2.* (C-O lyase) inhibitors|EC 4.2.* inhibitor|C-O lyase (EC 4.2.*) inhibitors|EC 4.2.* inhibitors|C-O lyase (EC 4.2.*) inhibitor|C-O lyase inhibitor owl:Class MONDO:0024301 biolink:NamedThing acquired mineral metabolism disease An instance of mineral metabolism disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl mineral metabolism disease|acquired mineral metabolism disease DOID:0050032 owl:Class HGNC:6413 biolink:NamedThing KRT10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009572 biolink:NamedThing autosomal recessive familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. tmpak2llvmy_mondo_relaxed.owl FMF|familial MEDITERRANEAN FEVER|autosomal recessive familial Mediterranean fever|polyserositis, familial paroxysmal|familial Mediterranean fever|polyserositis, recurrent|familial Mediterranean fever, autosomal recessive OMIM:249100 owl:Class MONDO:0012597 biolink:NamedThing prostate cancer, hereditary, 9 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 9|prostate cancer, hereditary, 9|HPC9 OMIM:610997|UMLS:C1970250|MESH:C567031 owl:Class MONDO:0009763 biolink:NamedThing obesity-hypoventilation syndrome Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. tmpak2llvmy_mondo_relaxed.owl obesity-hypoventilation syndrome|Pickwickian syndrome ICD9:786.09|UMLS:C0031880|OMIM:257500|SCTID:190966007|MESH:D010845 owl:Class MONDO:0006710 biolink:NamedThing complex partial epilepsy A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) tmpak2llvmy_mondo_relaxed.owl Complex partial epileptic seizure|psychomotor epilepsy|epilepsy, psychomotor MESH:D017029|DOID:12382|EFO:1000877|UMLS:C0085417|ICD9:345.40|SCTID:407675009 owl:Class CHEBI:26191 biolink:NamedThing polyol A compound that contains two or more hydroxy groups. tmpak2llvmy_mondo_relaxed.owl polyols owl:Class MONDO:0009611 biolink:NamedThing 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). tmpak2llvmy_mondo_relaxed.owl Not otherwise specified 3-MGA-Uria type|3-Methylglutaconic aciduria, type 4|MGA type IV|Mga, type 4|3 alpha methylglutaconic aciduria type IV|3 methylglutaconic aciduria type IV|MGA4|3-METHYLGLUTACONIC aciduria, type IV|3-methylglutaconic aciduria type IV|MGCA4 DOID:0110006|UMLS:C0574085|MESH:C565393|GARD:0010342|SCTID:297233004|Orphanet:67048|ICD10:E71.1|UMLS:C1855126|OMIM:250951 https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type owl:Class MONDO:0021111 biolink:NamedThing ureter neoplasm A benign or malignant neoplasm that affects the ureter. tmpak2llvmy_mondo_relaxed.owl neoplasm of ureter|ureter tumor|neoplasm of the ureter|tumor of ureter|ureter neoplasm|neoplasms of ureter|ureteral tumor|tumor of the ureter|ureter neoplasm (disease)|ureteral neoplasm|neoplasms of the ureter EFO:0003844|NCIT:C3427|SCTID:126882009|ICD9:239.5 owl:Class MONDO:0044792 biolink:NamedThing large congenital melanocytic nevus A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpak2llvmy_mondo_relaxed.owl GMN|congenital pigmented melanocytic Nevus|congenital pigmented Nevus of the skin|pigmented moles|Giant pigmented hairy Nevus|Giant pigmented hairy nevus|congenital Nevus of skin|congenital pigmented nevus|Giant congenital melanocytic nevus|melanocytic NEVUS syndrome, CONGENITAL|congenital nevus|LCMN|congenital skin Nevus|congenital melanocytic nevi|congenital melanocytic Nevus|spitz Nevus|Nevus spilus|congenital melanocytic Nevus of skin|congenital pigmented Nevus of skin|Giant Congenital pigmented Nevus|congenital Nevus of the skin|CMNS|congenital melanocytic Nevus of the skin|congenital pigmented skin Nevus ONCOTREE:SKCN|UMLS:C1318558|ICD10:Q82.5|OMIM:137550|NCIT:C3944|MedDRA:10072036|Orphanet:626|UMLS:C1842036|DOID:0111359|SCTID:398696001 Editor note: check if LCMN needs separated from CMN owl:Class MONDO:0010355 biolink:NamedThing syndromic X-linked intellectual disability Claes-Jensen type tmpak2llvmy_mondo_relaxed.owl syndromic X-linked mental retardation JARID1C-related|intellectual disability, X-linked, syndromic, JARID1C-related|mental retardation, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability Claes-Jensen type|mental retardation, X-linked, syndromic, JARID1C-related|MRXSCJ|syndromic X-linked intellectual disability due to JARID1C mutation|MRXSJ UMLS:C1845243|SCTID:719161008|Orphanet:85279|OMIM:300534|MESH:C564494|ICD10:Q87.8|DOID:0060809|UMLS:C4304915 owl:Class UBERON:0001319 biolink:NamedThing vaginal vein One the veins that drains the vaginal venous plexus, into the hypogastric veins. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl vagina vein|vein of vagina owl:Class MONDO:0014877 biolink:NamedThing myopathy, distal, 5 Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene. tmpak2llvmy_mondo_relaxed.owl myopathy, distal, type 5|distal myopathy caused by mutation in ADSSL1|MPD5|myopathy, distal, 5|myopathy, distal, 5; MPD5|ADSSL1 distal myopathy OMIM:617030|UMLS:C4310754 owl:Class MONDO:0005601 biolink:NamedThing ovarian mucinous adenocarcinoma An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. tmpak2llvmy_mondo_relaxed.owl ovary mucinous adenocarcinoma|ovarian mucinous adenocarcinoma|mucinous adenocarcinoma of the ovary|mucinous adenocarcinoma of ovary|mucinous carcinoma of the ovary|mucinous carcinoma of ovary|ovarian mucinous carcinoma EFO:0006462|DOID:3606|ICD10:C56|UMLS:CN205033|Orphanet:398961|NCIT:C5243|UMLS:C1335167 owl:Class MONDO:0000218 biolink:NamedThing preimplantation embryonic lethality tmpak2llvmy_mondo_relaxed.owl OMIMPS:616814|UMLS:CN282827 Editor note: this is a phenotypic feature rather than disease, consider obsoleting owl:Class MONDO:0021036 biolink:NamedThing keratosis pilaris A form of dry skin characterised by hair follicles plugged by scale. tmpak2llvmy_mondo_relaxed.owl KP SCTID:5132005|NCIT:C124070 owl:Class GO:0048285 biolink:NamedThing organelle fission The creation of two or more organelles by division of one organelle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100231 biolink:NamedThing psoriatic arthritis, susceptibility to, 1 A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement. tmpak2llvmy_mondo_relaxed.owl psoriatic arthritis susceptibility caused by LTA|psoriatic arthritis, susceptibility to, 1 OMIM:607507 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100232 biolink:NamedThing psoriatic arthritis, susceptibility to An inherited susceptibility or predisposition to developing psoriatic arthritis. tmpak2llvmy_mondo_relaxed.owl psoriatic arthritis, susceptibility|psoriatic arthritis, susceptibility to owl:Class NCBITaxon:41820 biolink:NamedThing Culicoides tmpak2llvmy_mondo_relaxed.owl punkies|Culicoides GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:58262 biolink:NamedThing Culicoidini tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007355 biolink:NamedThing bony part of pharyngotympanic tube The bony part of pharyngotympanic tube is about 12 mm. in length. It begins in the carotid wall of the tympanic cavity, below the septum canalis musculotubarii, and, gradually narrowing, ends at the angle of junction of the squama and the petrous portion of the temporal bone, its extremity presenting a jagged margin which serves for the attachment of the cartilaginous portion. tmpak2llvmy_mondo_relaxed.owl osseous portion of eustachian tube|bony part of eustachian tube|bony part of auditory tube|pars ossea (tuba auditiva)|pars ossea (tuba auditoria)|pars ossea tubae auditivae|osseous portion owl:Class MONDO:0018762 biolink:NamedThing non-acquired combined pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. tmpak2llvmy_mondo_relaxed.owl congenital hypopituitarism|congenital combined pituitary hormone deficiency Orphanet:467|ICD10:E23.0 owl:Class NCBITaxon:34487 biolink:NamedThing Conidiobolus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:30171 biolink:NamedThing HSPB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003004 biolink:NamedThing macular degeneration Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpak2llvmy_mondo_relaxed.owl retinal degeneration of macula lutea|macular degeneration of retina|macula lutea retinal degeneration|macula retinal degeneration UMLS:C0024437|NCIT:C123330|SCTID:422338006|DOID:4448|MESH:D008268 owl:Class MONDO:0006922 biolink:NamedThing Anaplasmataceae infectious disease Infections with bacteria of the family anaplasmataceae. tmpak2llvmy_mondo_relaxed.owl Anaplasmataceae infection|Haemobartonelloses|Haemobartonellosis|infection, Anaplasmataceae|Anaplasmataceae caused disease or disorder|Anaplasmataceae disease or disorder|infections, Anaplasmataceae SCTID:422167001|MESH:D000711|EFO:1001123 owl:Class GO:1903827 biolink:NamedThing regulation of cellular protein localization Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpak2llvmy_mondo_relaxed.owl regulation of cellular protein localisation|regulation of channel localizer activity owl:Class HGNC:19048 biolink:NamedThing ASPM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012300 biolink:NamedThing prostate cancer, hereditary, 6 tmpak2llvmy_mondo_relaxed.owl HPC6|prostate cancer, hereditary, 6|prostate cancer, hereditary, type 6 OMIM:609558|MESH:C563699|UMLS:C1836005 owl:Class MONDO:0002130 biolink:NamedThing upper limb mononeuronitis A disease affecting a single peripheral nerve of the upper limb. tmpak2llvmy_mondo_relaxed.owl mononeuritis of upper limb, unspecified|mononeuritis of upper limb|forelimb mononeuritis simplex|mononeuritis upper limb|mononeuritis simplex of forelimb DOID:1844|ICD9:354.9 owl:Class GO:0016810 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. tmpak2llvmy_mondo_relaxed.owl hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds owl:Class HGNC:7523 biolink:NamedThing TRIM37 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001320 biolink:NamedThing Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. tmpak2llvmy_mondo_relaxed.owl Hypoplasia of the cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplastic cerebellar vermis UMLS:C1840379 human_phenotype owl:Class MONDO:0006188 biolink:NamedThing EBV-positive T-cell lymphoproliferative disorder of childhood An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma. tmpak2llvmy_mondo_relaxed.owl EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80373|UMLS:C2699838|EFO:1000228 owl:Class UBERON:0006936 biolink:NamedThing thymus subcapsular epithelium the epithelial cells lining the capsule and trabeculae of the thymus tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016194 biolink:NamedThing qualitative or quantitative defects of nebulin tmpak2llvmy_mondo_relaxed.owl Orphanet:209182 owl:Class CHEBI:33958 biolink:NamedThing halide salt tmpak2llvmy_mondo_relaxed.owl halide salts|halides owl:Class MONDO:0003825 biolink:NamedThing kidney oncocytoma A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. tmpak2llvmy_mondo_relaxed.owl renal epithelial oncocytic neoplasm|kidney oncocytoma|oncocytoma kidney|kidney oncocytic neoplasm|oncocytoma of the kidney|ROCY|oncocytoma renal|renal oncocytoma|renal epithelial oncocytic tumor|oncocytoma of kidney GARD:0008477|EFO:1000315|MESH:C537750|UMLS:C0346255|DOID:6245|ONCOTREE:ROCY|NCIT:C4526|SCTID:254922006 https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma owl:Class MONDO:0010795 biolink:NamedThing oncocytic neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) tmpak2llvmy_mondo_relaxed.owl oncocytic tumor|oncocytic neoplasm|oncocytoma|oncocytoma, benign UMLS:C1378050|NCIT:C7072|OMIM:553000 owl:Class MONDO:0043154 biolink:NamedThing neonatal ovarian cyst tmpak2llvmy_mondo_relaxed.owl fetal ovarian cyst GARD:0003934|MESH:C536396|UMLS:C2931186 owl:Class MONDO:0003282 biolink:NamedThing ovarian cyst tmpak2llvmy_mondo_relaxed.owl cyst, ovarian|ovarian cyst|cysts, corpus luteum|corpus luteum cysts|ovarian cyst (disease)|corpus luteum cyst|cysts, ovarian|cyst, corpus luteum ovarian cyst (disease) MESH:D010048|HP:0000138|SCTID:79883001|DOID:5119|ICD9:620.2|ICD10:N83.2 owl:Class GO:0061135 biolink:NamedThing endopeptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061134 biolink:NamedThing peptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011302 biolink:NamedThing type 1 diabetes mellitus 17 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. tmpak2llvmy_mondo_relaxed.owl IDDM17|diabetes mellitus, insulin-dependent, 17|insulin-dependent diabetes mellitus 17 ICD10:E10|OMIM:603266|UMLS:C1864068|DOID:0110754|MESH:C566395 owl:Class MONDO:0017327 biolink:NamedThing primary non-gestational choriocarcinoma of ovary Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. tmpak2llvmy_mondo_relaxed.owl primary non-gestational ovarian choriocarcinoma|NGCO UMLS:CN202967|Orphanet:289356|SCTID:716588005|UMLS:C4274424|ICD10:C56 owl:Class MONDO:0004184 biolink:NamedThing urethral disease A disease involving the urethra. tmpak2llvmy_mondo_relaxed.owl disease or disorder of urethra|urethra disorder|disorder of urethra|urethra disease|disease of urethra|urethra disease or disorder UMLS:C0041969|ICD10:N36.9|NCIT:C26903|SCTID:4985009|DOID:732|MESH:D014522 owl:Class MONDO:0009354 biolink:NamedThing methylcobalamin deficiency type cblE An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. tmpak2llvmy_mondo_relaxed.owl vitamin B12-responsive homocystinuria, cblE type|homocystinuria-megaloblastic anemia, cblE complementation type|methylcobalamin deficiency, cblE type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|methylmalonic aciduria and homocystinuria type cblE|homocystinuria due to defect in methylation Cbl e|methylcobalamin deficiency type cblE|HMAE|functional methionine synthase deficiency type cblE MESH:C565510|ICD10:E72.1|DOID:0050732|GARD:0002732|EFO:0005568|NCIT:C142173|UMLS:C1856057|Orphanet:2169|OMIM:236270 owl:Class HP:0000080 biolink:NamedThing Abnormality of reproductive system physiology An abnormal functionality of the genital system. tmpak2llvmy_mondo_relaxed.owl Abnormality of reproductive system physiology|Abnormality of genital physiology|Genital functional abnormality UMLS:C4020896|UMLS:C4021820 human_phenotype owl:Class HP:0000078 biolink:NamedThing Abnormality of the genital system An abnormality of the genital system. tmpak2llvmy_mondo_relaxed.owl Genital anomalies|Genital abnormalities|Genital abnormality|Genital defects|Abnormality of the reproductive system UMLS:C0281966|UMLS:C0744356 human_phenotype owl:Class MONDO:0019855 biolink:NamedThing athyreosis Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl ICD10:E03.1|Orphanet:95713 owl:Class CHEBI:137419 biolink:NamedThing secondary ammonium ion An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl secondary amine(1+)|a secondary amine owl:Class MONDO:0009835 biolink:NamedThing subacute sclerosing panencephalitis Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl Subacute sclerosing panencephalitis (disorder) [ambiguous]|Van Bogaert's sclerosing leukoencephalitis|Van Bogaert disease|Dawson's encephalitis|SSPE|Immunosuppressive measles encephalitis|Subacute sclerosing panencephalitis|subacute sclerosing panencephalitis|Dawson disease|Dawson encephalitis|Van Bogaert encephalitis|Subacute inclusion body encephalitis|subacute sclerosing leukoencephalopathy|Subacute sclerosing leukoencephalitis|panencephalitis, SUBACUTE sclerosing UMLS:C0038522|GARD:0007708|NCIT:C85171|DOID:8970|ICD10:A81.1|Orphanet:2806|MESH:D013344|OMIM:260470|EFO:0007502|ICD9:046.2 https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis owl:Class MONDO:0012672 biolink:NamedThing cholelithiasis The presence of calculi in the gallbladder. tmpak2llvmy_mondo_relaxed.owl GBD4|gallbladder disease 4|gallbladder disease type 4|gallstones SCTID:266474003|OMIM:611465|NCIT:C122822|ICD9:574|EFO:0004799|ICD9:574.20|ICD9:574.5|UMLS:C0008350|DOID:10211|MESH:D002769 owl:Class MONDO:0100068 biolink:NamedThing SLC10A7-CDG SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. tmpak2llvmy_mondo_relaxed.owl SLC10A7 deficiency|SLC10A7-Congenital Disorder of Glycosylation 2018-12-14 19:28:28+00:00 owl:Class MONDO:0500018 biolink:NamedThing acute fibrinous and organizing pneumonia A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra. tmpak2llvmy_mondo_relaxed.owl AFOP http://orcid.org/0000-0001-5839-2535 owl:Class HGNC:105 biolink:NamedThing CNNM4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003906 biolink:NamedThing ovarian yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. tmpak2llvmy_mondo_relaxed.owl ovarian yolk Sac tumor, hepatoid pattern|hepatoid pattern ovarian yolk sac tumor UMLS:C1518748|DOID:6512|NCIT:C39989 owl:Class UBERON:0004489 biolink:NamedThing musculature of manus Any collection of muscles that is part of a manus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hand musculature|set of muscles of hand|musculature of hand|muscle group of hand owl:Class CL:0000223 biolink:NamedThing endodermal cell A cell of the inner of the three germ layers of the embryo. tmpak2llvmy_mondo_relaxed.owl endoderm cell FMA:72555 cell owl:Class MONDO:0006212 biolink:NamedThing flat urothelial hyperplasia A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003 tmpak2llvmy_mondo_relaxed.owl flat urothelial hyperplasia NCIT:C27878|EFO:1000259 owl:Class MONDO:0024483 biolink:NamedThing urothelial hyperplasia Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003 tmpak2llvmy_mondo_relaxed.owl urothelium hyperplasia|urothelial hyperplasia NCIT:C27877 owl:Class UBERON:0018119 biolink:NamedThing left renal medulla interstitium A renal medulla interstitium that is part of a left kidney. tmpak2llvmy_mondo_relaxed.owl medullary interstitial tissue of left kidney owl:Class UBERON:0005211 biolink:NamedThing renal medulla interstitium tissue surrounding the loop of Henle in the renal medulla. tmpak2llvmy_mondo_relaxed.owl kidney medulla interstitium|renal medullary interstitium|medullary interstitium|medullary stroma|renal medullary interstitial tissue owl:Class MONDO:0024305 biolink:NamedThing acquired hyperprolactinemia An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl pregnancy-related A-G syndrome|Chiari-Frommel syndrome|hyperprolactinemia|acquired hyperprolactinemia (disease) ICD10:E22.1|DOID:12700 owl:Class MONDO:0010733 biolink:NamedThing hereditary spastic paraplegia 2 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. tmpak2llvmy_mondo_relaxed.owl X-linked spastic paraplegia type 2|spastic paraparesis type 2|PLP1 hereditary spastic paraplegia|SPG2|spastic gait type 2|hereditary spastic paraplegia type 2|spastic paraplegia 2, X-linked|spastic paraplegia 2|Sppx2|X-linked spastic paraplegia 2|hereditary spastic paraplegia caused by mutation in PLP1|spastic paraplegia type 2 GARD:0004923|Orphanet:99015|SCTID:723622007|DOID:0110773|ICD10:G11.4|UMLS:C1839264|OMIM:312920 owl:Class UBERON:0011824 biolink:NamedThing fibrous connective tissue tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007631 biolink:NamedThing chromosome 16p12.1 deletion syndrome, 520kb A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. tmpak2llvmy_mondo_relaxed.owl fragile site, Distamycin a type, Rare, fra(16)(p12.1)|chromosome 16p12.1 deletion syndrome|fragile site 16P12|chromosome 16p12.1 deletion syndrome, 520-KB|chromosome 16p12.1 deletion syndrome, type 520kb MESH:C565001|OMIM:136570|NCIT:C129875|DOID:0060399 owl:Class MONDO:0009088 biolink:NamedThing deafness, neural, with atypical atopic dermatitis tmpak2llvmy_mondo_relaxed.owl deafness, neural, with atypical atopic dermatitis UMLS:C1857334|OMIM:221700|MESH:C565639 owl:Class MONDO:0017262 biolink:NamedThing inherited non-syndromic ichthyosis A inherited ichthyosis that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic inherited ichthyosis|isolated inherited ichthyosis Orphanet:281082 owl:Class NCBITaxon:6448 biolink:NamedThing Gastropoda tmpak2llvmy_mondo_relaxed.owl gastropods GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004177 biolink:NamedThing hemopoietic organ Organ that is part of the hematopoietic system. tmpak2llvmy_mondo_relaxed.owl hematopoietic system organ|organ of haemopoietic system|lymphoid organ|organ of hematopoietic system|lymph organ|organa haemopoietica organ|haematological system organ|organ of haematological system|organ of organa haemopoietica|haemopoietic system organ|hematopoeitic or lymphoid organ|hematopoeitic organ owl:Class MONDO:0100398 biolink:NamedThing acute myeloid leukemia, inv(3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, inv(3)(q21q26.2)|AML, inv(3)(q21.3q26.2)|AML, inv(3)(q21.3;q26.2) NCIT:C122716 owl:Class HP:0011283 biolink:NamedThing Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. tmpak2llvmy_mondo_relaxed.owl Abnormality of the metencephalon UMLS:C4023432 peter 2012-01-01T01:24:14Z human_phenotype owl:Class MONDO:0009889 biolink:NamedThing autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. tmpak2llvmy_mondo_relaxed.owl AR-PKD|polycystic kidney disease, autosomal recessive|autosomal recessive polycystic kidney|PKHD1|polycystic kidney disease, infantile type|polycystic kidney disease, infantile, type I|ARPKD|polycystic kidney and hepatic disease 1 MedDRA:10036047|DOID:0110861|Orphanet:731|ICD10:Q61.1|ICD9:753.14|SCTID:28770003|UMLS:C0085548|NCIT:C84579|GARD:0008378 owl:Class MONDO:0005739 biolink:NamedThing echinostomiasis Infection by flukes of the genus Echinostoma. tmpak2llvmy_mondo_relaxed.owl infection by Echinochasmus|Echinostomatoidea caused disease or disorder|Echinostomatoidea infectious disease|Echinostomatoidea disease or disorder DOID:1218|UMLS:C0013514|SCTID:52918004|EFO:0007246|ICD9:121.8|MESH:D004451|ICD10:B66.8 owl:Class MONDO:0013539 biolink:NamedThing hypotonia-failure to thrive-microcephaly syndrome Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. tmpak2llvmy_mondo_relaxed.owl LTC4 synthase deficiency|leukotriene C4 synthase deficiency OMIM:614037|Orphanet:79507|UMLS:C3279662|SCTID:717185008|MESH:C565439 owl:Class MONDO:0001579 biolink:NamedThing corneal staphyloma tmpak2llvmy_mondo_relaxed.owl SCTID:52476003|UMLS:C0152440|ICD9:371.73|ICD10:H18.72|DOID:12753 owl:Class MONDO:0010603 biolink:NamedThing hemophilia A with vascular abnormality tmpak2llvmy_mondo_relaxed.owl hemophilia A with vascular abnormality MESH:C564415|OMIM:306800|UMLS:C1844137 owl:Class MONDO:0010602 biolink:NamedThing hemophilia A Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. tmpak2llvmy_mondo_relaxed.owl factor 8 deficiency|hemophilia type a|congenital factor VIII disorder|classical hemophilia|factor VIII deficiency|Subhemophilia|hemophilia type A|hemophilia, classic|autosomal hemophilia a|classic hemophilia|hemophilia A, congenital|hereditary Factor VIII deficiency|HEMA|hem A|hemophilia A|hereditary Factor VIII deficiency disease|Haemophilia A UMLS:C0019069|MedDRA:10016080|ICD10:D66|ICD9:286.0|OMIM:306700|MESH:D006467|OMIM:134500|GARD:0006591|NCIT:C27146|SCTID:234440005|UMLS:CN239112|DOID:12134|Orphanet:98878|EFO:0007267 owl:Class HGNC:7646 biolink:NamedThing NAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013060 biolink:NamedThing autosomal recessive Parkinson disease 14 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. tmpak2llvmy_mondo_relaxed.owl dystonia-Parkinsonism Adult-onset|dystonia-parkinsonism, Paisan-Ruiz type|dystonia-Parkinsonism, adult-onset|adult-onset dystonia - parkinsonism|PLA2G6 hereditary late onset Parkinson disease|autosomal recessive Parkinson disease type 14|hereditary late onset Parkinson disease caused by mutation in PLA2G6|PLA2G6-related dystonia-parkinsonism|autosomal recessive Parkinson's disease 14|Parkinson disease 14, autosomal recessive|PARK14 OMIM:612953|ICD10:G24.1|DOID:0060900|MESH:C567844|UMLS:C2751842|Orphanet:199351|SCTID:720466001|GARD:0012568 owl:Class MONDO:0037870 biolink:NamedThing valine metabolism disease A disease that has its basis in the disruption of valine metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of valine metabolic process|disorder of valine metabolism|valine metabolic process disease UMLS:C2919304|SCTID:444756000 owl:Class MONDO:0012291 biolink:NamedThing immunoglobulin A deficiency 2 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. tmpak2llvmy_mondo_relaxed.owl Immunoglobulin A, selective deficiency of, TACI related|selective IgA deficiency disease caused by mutation in TNFRSF13B|immunoglobulin a deficiency 2|Immunoglobulin A, selective deficiency of, TACI-related|TNFRSF13B selective IgA deficiency disease|IgA, selective deficiency of, TACI related|IGAD2|IgA, selective deficiency of, TACI-related|IMMUNOGLOBULIN A deficiency 2|Immunoglobulin a deficiency type 2 OMIM:609529|UMLS:C1836032|MESH:C536291|GARD:0010198 https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2 owl:Class CHEBI:75767 biolink:NamedThing animal metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. tmpak2llvmy_mondo_relaxed.owl animal metabolites owl:Class MONDO:0100038 biolink:NamedThing complex neurodevelopmental disorder A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). tmpak2llvmy_mondo_relaxed.owl complex neurodevelopmental disorder 2018-06-29 18:21:11+00:00 owl:Class HGNC:23161 biolink:NamedThing ALG8 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060784 biolink:NamedThing regulation of cell proliferation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009291 biolink:NamedThing glycogen storage disease III Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. tmpak2llvmy_mondo_relaxed.owl GSD3|GSD type 3|Forbes disease|amylo 1,6 glucosidase deficiency|GSD due to glycogen debranching enzyme deficiency|AGL glycogen storage disease|glycogen storage disease due to glycogen debranching enzyme deficiency|glycogenosis type 3|glycogenosis type III|glycogen storage disease IIIC|deficiency of debranching enzyme|GSDIII|GDE deficiency|glycogen storage disease type 3|glycogen storage disease III|deficiency of dextrin|glycogen storage disease type III|Gde deficiency|glycogen storage disease, type III|Cori disease|glycogen Debrancher deficiency|amylo-1,6-glucosidase deficiency|Agl deficiency|limit dextrinosis|glycogen storage disease caused by mutation in AGL|glycogenosis due to glycogen debranching enzyme deficiency|glycogen storage disease IIIb|glycogen storage disease IIIa|glycogen storage disease 3|glycogen storage disease IIID|Cori-Forbes disease MedDRA:10053250|UMLS:CN204781|MESH:D006010|SCTID:66937008|UMLS:C0017922|DOID:2748|OMIM:232400|GARD:0009442|NCIT:C84736|Orphanet:366|ICD10:E74.03|ICD10:E74.0 owl:Class HP:0003679 biolink:NamedThing Pace of progression tmpak2llvmy_mondo_relaxed.owl UMLS:C4025580 human_phenotype owl:Class HP:0100640 biolink:NamedThing Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. tmpak2llvmy_mondo_relaxed.owl UMLS:C0339880|SNOMEDCT_US:195867000 doelkens 2010-12-29T05:48:37Z human_phenotype owl:Class HP:0025423 biolink:NamedThing Abnormal larynx morphology Any anomaly of the structure of the larynx. tmpak2llvmy_mondo_relaxed.owl 2017-04-23 12:44:49+00:00 HPO:probinson human_phenotype owl:Class MONDO:0020138 biolink:NamedThing ataxia with dementia tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP:0001251 Ataxia HP_0001251 owl:Class NCBITaxon:31285 biolink:NamedThing Trypanosoma brucei gambiense tmpak2llvmy_mondo_relaxed.owl Trypanosoma (Trypanozoon) brucei gambiense|Trypanosoma brucei subsp. gambiense|Trypanosoma gambiense GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5691 biolink:NamedThing Trypanosoma brucei tmpak2llvmy_mondo_relaxed.owl Trypanosoma (Trypanozoon) brucei|Trypanosoma brucei subgroup GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015073 biolink:NamedThing gallbladder neuroendocrine tumor, grade 1/2 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. tmpak2llvmy_mondo_relaxed.owl gallbladder neuroendocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder NET|gallbladder well differentiated endocrine tumor UMLS:C3273116|ICD10:C23|Orphanet:100086|UMLS:CN197366|NCIT:C96918 owl:Class UBERON:0000154 biolink:NamedThing posterior region of body tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13176 biolink:NamedThing IKZF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012365 biolink:NamedThing gallbladder disease 2 tmpak2llvmy_mondo_relaxed.owl gallbladder disease 2|GBD2 UMLS:C1835925|MESH:C563687|OMIM:609918 owl:Class SO:0000252 biolink:NamedThing rRNA rRNA is an RNA component of a ribosome that can provide both structural scaffolding and catalytic activity. tmpak2llvmy_mondo_relaxed.owl INSDC_feature:rRNA|INSDC_qualifier:unknown|ribosomal ribonucleic acid|ribosomal RNA owl:Class MONDO:0022013 biolink:NamedThing Boerhaave syndrome A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. tmpak2llvmy_mondo_relaxed.owl spontaneous esophageal perforation|spontaneous rupture of the esophagus|Boerhaave syndrome|boerhaave's syndrome|spontaneous perforation of esophagus|spontaneous rupture of esophagus|spontaneous perforation of the esophagus|Boerhaave's syndrome|Boerhave syndrome UMLS:C0238115|GARD:0009261|SCTID:19995004|MESH:C536571 https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome owl:Class UBERON:0010742 biolink:NamedThing bone of pelvic complex A bone that is part of a pelvic complex. Examples: pubis, ischium, fot phalanx, any tarsal bone, any bone of the pelvic fin or girdle. tmpak2llvmy_mondo_relaxed.owl hindlimb bone owl:Class UBERON:0010740 biolink:NamedThing bone of appendage girdle complex A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). tmpak2llvmy_mondo_relaxed.owl bone of extended limb/fin region|limb bone owl:Class MONDO:0036595 biolink:NamedThing ovarian Sertoli-Leydig cell tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. tmpak2llvmy_mondo_relaxed.owl Sertoli-Leydig neoplasm of the ovary|Sertoli-Leydig cell tumor of ovary|Sertoli-Leydig neoplasm of ovary|ovarian Sertoli-Leydig cell tumor|androblastoma|Sertoli-Leydig cell tumor of the ovary|arrhenoblastoma|ovarian Sertoli-Leydig cell neoplasm UMLS:C0003810|EFO:1000429|SCTID:254866007|NCIT:C2880 owl:Class NCBITaxon:85007 biolink:NamedThing Corynebacteriales tmpak2llvmy_mondo_relaxed.owl Corynebacterineae|Mycobacteriales PMID:1736962|GC_ID:11|PMID:31157615|PMID:19244447|PMID:11837321|PMID:30186281 NCBITaxon:1761 ncbi_taxonomy owl:Class MONDO:0018341 biolink:NamedThing 3q27.3 microdeletion syndrome 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. tmpak2llvmy_mondo_relaxed.owl Del(3)(q27.3) UMLS:CN225942|Orphanet:397695|ICD10:Q93.5 owl:Class MONDO:0007016 biolink:NamedThing vitamin A deficiency Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. tmpak2llvmy_mondo_relaxed.owl vitamin A deficiency|deficiency, vitamin A|deficiencies, vitamin A|vitamin A deficiencies|vitamin A deficiency (disease) vitamin A deficiency (disease) ICD9:264.8|SCTID:72000004|UMLS:C0042842|ICD9:264.9|MedDRA:10047586|MESH:D014802|HP:0004905|NCIT:C85220|EFO:1001237|ICD9:264 owl:Class MONDO:0024298 biolink:NamedThing vitamin deficiency disorder A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. tmpak2llvmy_mondo_relaxed.owl deficiency, vitamin|deficiencies, vitamin|vitamin deficiencies|avitaminosis|vitamin deficiency|Avitaminoses|vitamin deficiency disorder EFO:0005878|ICD9:269.2|NCIT:C35772|MESH:D001361|UMLS:C0376286|UMLS:C1510471|SCTID:85670002|ICD9:269.1 owl:Class HP:0011032 biolink:NamedThing Abnormality of fluid regulation An abnormality of the regulation of body fluids. tmpak2llvmy_mondo_relaxed.owl Abnormality of fluid regulation|Fluid imbalance SNOMEDCT_US:190902006|UMLS:C2364164|SNOMEDCT_US:1860003 peter 2011-03-05T09:09:27Z human_phenotype owl:Class HGNC:4584 biolink:NamedThing GRIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012390 biolink:NamedThing arthrogryposis multiplex with deafness, inguinal hernias, and early death tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex with deafness, inguinal hernias, and early death UMLS:C1864939|GARD:0009946|OMIM:610001|MESH:C535381 https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death owl:Class GO:0007517 biolink:NamedThing muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061061 biolink:NamedThing muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003497 biolink:NamedThing renal pelvis squamous cell carcinoma A squamous cell carcinoma that involves the renal pelvis. tmpak2llvmy_mondo_relaxed.owl renal pelvis squamous cell carcinoma|squamous cell carcinoma of renal pelvis|renal pelvis epidermoid carcinoma|squamous cell carcinoma of kidney pelvis|epidermoid carcinoma of the kidney pelvis|squamous cell carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|kidney renal pelvis squamous cell cancer|epidermoid carcinoma of the renal pelvis|epidermoid carcinoma of renal pelvis|kidney pelvis epidermoid carcinoma|renal pelvis squamous cell cancer|kidney pelvis squamous cell carcinoma|squamous cell carcinoma of the kidney pelvis UMLS:C0238409|NCIT:C7732|DOID:5534 owl:Class HGNC:11777 biolink:NamedThing TGM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009191 biolink:NamedThing Lowry-Wood syndrome Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Lowry-Wood syndrome|LWS|epiphyseal dysplasia, microcephaly and nystagmus|Lowry Wood syndrome|epiphyseal dysplasia, microcephaly, and NYSTAGMUS|epiphyseal dysplasia-microcephaly-nystagmus syndrome ICD10:Q87.5|Orphanet:1824|MedDRA:10062600|UMLS:C0796021|MESH:C537038|SCTID:721975004|GARD:0000264|OMIM:226960 https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome owl:Class GO:0070224 biolink:NamedThing sulfide:quinone oxidoreductase activity Catalysis of the reaction: hydrogen sulfide + a quinone = S0 + a hydroquinone. tmpak2llvmy_mondo_relaxed.owl sulfide-quinone reductase activity|sulphide:quinone oxidoreductase activity owl:Class GO:0016672 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces quinone or a related compound. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, quinone or similar compound as acceptor owl:Class MONDO:0018167 biolink:NamedThing primary essential cutis verticis gyrata Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. tmpak2llvmy_mondo_relaxed.owl ICD10:Q82.8|SCTID:765135003|UMLS:CN204615|Orphanet:357220 owl:Class GO:0002580 biolink:NamedThing regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpak2llvmy_mondo_relaxed.owl regulation of peptide or polysaccharide antigen processing and presentation via MHC class II owl:Class MONDO:0011227 biolink:NamedThing short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome tmpak2llvmy_mondo_relaxed.owl SAMS|SAMS syndrome|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities OMIM:602471|Orphanet:397623|MESH:C566544|SCTID:417081007|ICD10:Q87.1|UMLS:C1865361 owl:Class HGNC:16378 biolink:NamedThing OTOA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019913 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). tmpak2llvmy_mondo_relaxed.owl UPD(7)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7 UMLS:CN206841|ICD10:Q87.1|Orphanet:96182 owl:Class MONDO:0024659 biolink:NamedThing colorectal Kaposi sarcoma A Kaposi sarcoma that arises from the colon or rectum. tmpak2llvmy_mondo_relaxed.owl large intestinal Kaposi sarcoma|colorectal Kaposi sarcoma|Kaposi's sarcoma (disease) of large intestine|large intestine Kaposi's sarcoma (disease) UMLS:C3272833|NCIT:C96510 owl:Class UBERON:0012241 biolink:NamedThing male urethral meatus A urethral meatus that is part of a male urethra[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl male urethra ostium|external orifice of male urethra|urethral opening of penile urethra|ostium urethrae externum (urethra masculina)|urethral meatus of penile urethra|distal urethral opening of male|external urethral orifice (male) owl:Class GO:0008484 biolink:NamedThing sulfuric ester hydrolase activity Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2. tmpak2llvmy_mondo_relaxed.owl sulfatase activity|sulphuric ester hydrolase activity owl:Class GO:0016788 biolink:NamedThing hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of any ester bond. tmpak2llvmy_mondo_relaxed.owl esterase activity owl:Class MONDO:0032782 biolink:NamedThing immunodeficiency 63 with lymphoproliferation and autoimmunity tmpak2llvmy_mondo_relaxed.owl IMD63|Cd122 Deficiency|Interleukin 2 Receptor, Beta, Deficiency of|IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|Il2Rb Deficiency OMIM:618495 owl:Class MONDO:0020635 biolink:NamedThing anaplastic meningioma A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). tmpak2llvmy_mondo_relaxed.owl malignant meningioma|meningioma, anaplastic, malignant|anaplastic (malignant) meningioma|meningioma, malignant|anaplastic meningioma NCIT:C4051|ICDO:9530/3|ONCOTREE:ANM owl:Class MONDO:0032636 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 33 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33|MC1DN33 OMIM:618253 owl:Class MONDO:0020477 biolink:NamedThing progeria-associated arthropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:99706 owl:Class UBERON:0004806 biolink:NamedThing vas deferens epithelium An epithelium that is part of a vas deferens [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of vas deferens|epithelial tissue of vas deferens|epithelial tissue of sperm duct|epithelial tissue of ductus deferens|epithelial tissue of vas deferen|epithelium of sperm duct|sperm duct epithelial tissue|vas deferens epithelial tissue|sperm duct epithelium|vas deferen epithelium|deferent duct epithelium|epithelium of ductus deferens|epithelium of vas deferen|ductus deferens epithelial tissue|vas deferen epithelial tissue|epithelium of deferent duct|deferent duct epithelial tissue|ductus deferens epithelium|epithelial tissue of deferent duct owl:Class MONDO:0007138 biolink:NamedThing anterior segment dysgenesis 1 tmpak2llvmy_mondo_relaxed.owl ASMD|ASGD1|anterior segment ocular dysgenesis|anterior segment mesenchymal dysgenesis|anterior segment dysgenesis 1 UMLS:C1862839|DOID:0060605|ICD10:Q13.8|OMIM:107250 owl:Class MONDO:0003232 biolink:NamedThing alcoholic pancreatitis Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. tmpak2llvmy_mondo_relaxed.owl alcoholic pancreatitis MESH:D019512|EFO:1002013|DOID:4988|UMLS:C0376670|SCTID:445507008 owl:Class HGNC:9606 biolink:NamedThing PTH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002618 biolink:NamedThing undifferentiated high grade pleomorphic sarcoma of bone A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. tmpak2llvmy_mondo_relaxed.owl undifferentiated high grade pleomorphic sarcoma of bone|malignant fibrous histiocytoma of the bone|malignant bone fibrous histiocytoma|undifferentiated high grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone|undifferentiated high-grade pleomorphic sarcoma DOID:3352|UMLS:C0740479|NCIT:C8563 owl:Class NCBITaxon:2611352 biolink:NamedThing Discoba tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:17198 biolink:NamedThing CHSY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011373 biolink:NamedThing urinary tract infections, recurrent, susceptibility to tmpak2llvmy_mondo_relaxed.owl urinary tract infections, recurrent, susceptibility to OMIM:603806 owl:Class MONDO:0018125 biolink:NamedThing focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. tmpak2llvmy_mondo_relaxed.owl focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587|ICD10:Q04.8|UMLS:CN204502 owl:Class CL:0002266 biolink:NamedThing type D cell of small intestine A type D cell of the small intestine. tmpak2llvmy_mondo_relaxed.owl small intestine delta cell|delta cell of small intestine|small intestine D-cell FMA:268736 tmeehan 2010-09-10T01:34:22Z cell owl:Class HGNC:11976 biolink:NamedThing TNXB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16901 biolink:NamedThing SPEG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004964 biolink:NamedThing peripheral T-cell lymphoma, not otherwise specified Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant. tmpak2llvmy_mondo_relaxed.owl PTCL EFO:0000211|ONCOTREE:PTCL|NCIT:C4340 owl:Class MONDO:0005169 biolink:NamedThing neoplasm of mature T-cells or NK-cells A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. tmpak2llvmy_mondo_relaxed.owl mature T-cell and NK-cell neoplasm|mature T-cell neoplasm|mature T and NK neoplasms ONCOTREE:MTNN|EFO:0002426|NCIT:C27909|UMLS:C1334640 owl:Class MONDO:0007061 biolink:NamedThing acylase, cobalt-activated tmpak2llvmy_mondo_relaxed.owl acylase, cobalt-activated OMIM:102590 owl:Class MONDO:0006886 biolink:NamedThing thyroid gland papillary and follicular carcinoma A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) tmpak2llvmy_mondo_relaxed.owl papillary and follicular carcinoma|papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|thyroid gland papillary and follicular carcinoma NCIT:C7380|EFO:1001083|UMLS:C0206683|MESH:D018265|DOID:3968 owl:Class MONDO:0020799 biolink:NamedThing basal cell neoplasm A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. tmpak2llvmy_mondo_relaxed.owl basal cell tumor|neoplasm, basal cell NCIT:C3784|SCTID:127570002|ICDO:8090/1|MESH:D018295 owl:Class MONDO:0003872 biolink:NamedThing ovarian papillary cystadenoma A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. tmpak2llvmy_mondo_relaxed.owl ovarian papillary cystadenoma DOID:6405|UMLS:C1335175|NCIT:C7278 owl:Class MONDO:0044092 biolink:NamedThing collagenous sprue A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. tmpak2llvmy_mondo_relaxed.owl sprue, collagenous|non-gluten intolerance syndrome|Sprues, collagenous|collagenous Sprues|collagenous sprue|non-gluten sensitive enteropathy syndrome|collagenous enteropathy syndrome|collagenous enteropathy UMLS:C0341299|NCIT:C45426|MESH:D064068|SCTID:61738006 owl:Class HGNC:3606 biolink:NamedThing FBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014090 biolink:NamedThing polydactyly, postaxial, type A6 tmpak2llvmy_mondo_relaxed.owl PAPA6|polydactyly, postaxial, type A6 OMIM:615226|UMLS:C3808889 owl:Class HGNC:430 biolink:NamedThing ALOX12B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011253 biolink:NamedThing craniomicromelic syndrome Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly. tmpak2llvmy_mondo_relaxed.owl craniomicromelic syndrome ICD10:Q87.0|UMLS:C1865184|Orphanet:1524|OMIM:602558|GARD:0001583|MESH:C566522|SCTID:725098001 https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome owl:Class MONDO:0013442 biolink:NamedThing nephronophthisis 12 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis 12|nephronophthisis (disease) caused by mutation in TTC21B|Joubert syndrome 11|TTC21B nephronophthisis (disease)|NPHP12|nephronophthisis type 12 UMLS:C3151186|OMIM:613820|DOID:0111119 owl:Class MONDO:0019415 biolink:NamedThing fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. tmpak2llvmy_mondo_relaxed.owl NAIT SCTID:240305000|Orphanet:853|GARD:0002295|ICD10:P61.0 https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia owl:Class MONDO:0012326 biolink:NamedThing autosomal recessive nonsyndromic deafness 42 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive type 42|ILDR1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 42|DFNB42|deafness, autosomal recessive 42|autosomal recessive nonsyndromic deafness type 42|autosomal recessive deafness 42|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1 DOID:0110500|MESH:C566460|UMLS:C1864818|ICD10:H90.3|OMIM:609646 owl:Class UBERON:0005195 biolink:NamedThing deferent duct vein A vein that is part of a vas deferens [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:27573 biolink:NamedThing silicon atom tmpak2llvmy_mondo_relaxed.owl 14Si|Silicon|silicio|silicon|Silizium|Si|silicium owl:Class CHEBI:33306 biolink:NamedThing carbon group element atom tmpak2llvmy_mondo_relaxed.owl cristallogene|group 14 elements|carbon group elements|carbonoides|carbon group element|group IV elements|cristallogenes owl:Class ECTO:9000107 biolink:NamedThing exposure to solvent An exposure to solvent. tmpak2llvmy_mondo_relaxed.owl exposure to solvent owl:Class MONDO:0004083 biolink:NamedThing Borst-Jadassohn intraepidermal carcinoma A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells. tmpak2llvmy_mondo_relaxed.owl intraepidermal epithelioma of Jadassohn|Bowen's disease, clonal DOID:7039|NCIT:C4110|UMLS:C2937231|EFO:1001841|ICDO:8096/0|SCTID:403886007|UMLS:C0334260 owl:Class UBERON:0002011 biolink:NamedThing thoracodorsal artery The thoracodorsal artery is a branch of the subscapular artery. It travels inferiorly with the thoracodorsal nerve and supplies the latissimus dorsi. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria thoracodorsalis owl:Class GO:0006415 biolink:NamedThing translational termination The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). tmpak2llvmy_mondo_relaxed.owl translational complex disassembly|translation termination|protein synthesis termination owl:Class GO:0043624 biolink:NamedThing cellular protein complex disassembly The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009749 biolink:NamedThing giant axonal neuropathy 1 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. tmpak2llvmy_mondo_relaxed.owl giant axonal neuropathy type 1|GAN giant axonal neuropathy|neuropathy, giant axonal|giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy caused by mutation in GAN|giant axonal neuropathy 1|gan|gan giant axonal neuropathy|giant axonal neuropathy 1, autosomal recessive|GAN1 OMIM:256850|ICD10:G60.8|UMLS:C1850386|Orphanet:643|GARD:0006500|DOID:0090068 https://github.com/monarch-initiative/mondo/issues/2532 owl:Class MONDO:0000128 biolink:NamedThing giant axonal neuropathy A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. tmpak2llvmy_mondo_relaxed.owl MESH:D056768|OMIMPS:256850|ICD9:349.89|SCTID:128207002|NCIT:C84728|UMLS:C5200933 See genetic heterogeneity of OMIM 256850. https://github.com/monarch-initiative/mondo/issues/2532 owl:Class MONDO:0019643 biolink:NamedThing transient pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. tmpak2llvmy_mondo_relaxed.owl TPHA UMLS:CN776908|Orphanet:93164|ICD10:N15.8|SCTID:717263009|UMLS:C4273962 owl:Class MONDO:0018638 biolink:NamedThing pseudohypoaldosteronism An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. tmpak2llvmy_mondo_relaxed.owl Orphanet:444916|UMLS:C0033805|DOID:4479|SCTID:77098009|ICD9:255.8|MESH:D011546|NCIT:C85034 owl:Class MONDO:0006558 biolink:NamedThing pemphigoid gestationis A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. tmpak2llvmy_mondo_relaxed.owl gestational herpes|pemphigoid gestationis|pemphigus gestationis|Herpes gestationis (disorder)|Herpes gestationis unspecified (disorder)|Herpes gestationis NOS (disorder)|Herpes gestationis|gestational pemphigoid SCTID:86081009|ICD9:646.80|Wikipedia:Gestational_pemphigoid|ICD10CM:O26.4|ICD10:O26.40|DOID:14482|ICD10:O26.4|Orphanet:63275|NCIT:C85003|GARD:0006497|UMLS:C0019343|ICD10:L12.8|EFO:1000709|MedDRA:10019939|DOID:0040098|MESH:D006559 https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis owl:Class GO:0005577 biolink:NamedThing fibrinogen complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. tmpak2llvmy_mondo_relaxed.owl fibrinogen beta chain|fibrinogen gamma chain|fibrinogen|fibrinogen alpha chain owl:Class MONDO:0021509 biolink:NamedThing benign neoplasm of myocardium A benign neoplasm that involves the myocardium. tmpak2llvmy_mondo_relaxed.owl myocardium benign neoplasm|benign neoplasm of the myocardium|benign tumor of myocardium|benign myocardial neoplasm|benign myocardial tumor|benign tumor of the myocardium SCTID:92238001|NCIT:C4607|UMLS:C0347253 owl:Class MONDO:0004745 biolink:NamedThing priapism Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. tmpak2llvmy_mondo_relaxed.owl Mentulagra SCTID:6273006|ICD10:N48.30|UMLS:C0033117|DOID:9286|Orphanet:140949|ICD9:607.3|ICD10:N48.3|MESH:D011317 owl:Class MONDO:0002548 biolink:NamedThing cellular schwannoma A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. tmpak2llvmy_mondo_relaxed.owl cellular schwannoma|CSCHW|cellular neurilemmoma|cellular neurinoma SCTID:404026003|ONCOTREE:CSCHW|UMLS:C0431124|NCIT:C4724|ICD9:215.9|DOID:3196 owl:Class PATO:0001300 biolink:NamedThing optical quality An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002634 biolink:NamedThing epithelial cell of anal column An epithelial cell of the anal column. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-07-08T12:11:38Z cell owl:Class GO:0010770 biolink:NamedThing positive regulation of cell morphogenesis involved in differentiation Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001260 biolink:NamedThing Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. tmpak2llvmy_mondo_relaxed.owl Difficulty articulating speech|Dysarthric speech SNOMEDCT_US:8011004|MSH:D004401|UMLS:C0013362 HP:0002327 human_phenotype owl:Class MONDO:0024287 biolink:NamedThing congenital vascular malformation A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. tmpak2llvmy_mondo_relaxed.owl vascular malformation|congenital vascular malformation NCIT:C112117 owl:Class MONDO:0020672 biolink:NamedThing vascular occlusion disorder A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot. tmpak2llvmy_mondo_relaxed.owl vascular occlusion owl:Class MONDO:0027694 biolink:NamedThing amyotrophic lateral sclerosis type 23 tmpak2llvmy_mondo_relaxed.owl ALS23|amyotrophic lateral sclerosis 23 OMIM:617839|DOID:0080225|UMLS:CN778765 owl:Class GO:0009150 biolink:NamedThing purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl purine ribonucleotide metabolism owl:Class MONDO:0001569 biolink:NamedThing acoustic neuroma A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. tmpak2llvmy_mondo_relaxed.owl acoustic Neuroma|Neuroma, acoustic|neurinoma of the acoustic nerve|vestibular neurilemmoma|vestibular schwannoma|acoustic neurilemoma|acoustic schwannoma|acoustic neurinoma|acoustic tumor|neurilemoma, acoustic|acoustic neurilemmoma NCIT:C3276|MESH:D009464|SCTID:126949007|CSP:2012-6947|GARD:0000223|DOID:12689 Editor note: check relationship to vestibular schwannoma (disease) owl:Class HP:0005268 biolink:NamedThing Spontaneous abortion A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. tmpak2llvmy_mondo_relaxed.owl Miscarriage SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 human_phenotype owl:Class HP:0001787 biolink:NamedThing Abnormal delivery An abnormality of the birth process. tmpak2llvmy_mondo_relaxed.owl Delivery complication|Abnormal delivery UMLS:C0549629|SNOMEDCT_US:274127000 human_phenotype owl:Class MONDO:0007440 biolink:NamedThing major affective disorder 1 tmpak2llvmy_mondo_relaxed.owl bipolar affective disorder|manic-depressive psychosis, autosomal|manic-depressive psychosis|major affective disorder 1|MAJOR affective disorder 1|MAFD1 OMIM:125480|DOID:0080220 owl:Class MONDO:0012667 biolink:NamedThing dilated cardiomyopathy 1W Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpak2llvmy_mondo_relaxed.owl CMD1W|VCL familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1W|dilated cardiomyopathy type 1W|cardiomyopathy, dilated, type 1W|familial isolated dilated cardiomyopathy caused by mutation in VCL ICD10:I42.0|MESH:C566954|OMIM:611407|UMLS:C1969639|DOID:0110446 owl:Class MONDO:0020305 biolink:NamedThing isochromosomy Yq Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. tmpak2llvmy_mondo_relaxed.owl Orphanet:98798|ICD10:Q98.6 owl:Class MONDO:0004452 biolink:NamedThing childhood central nervous system germinoma A germinoma arising from the central nervous system during childhood. tmpak2llvmy_mondo_relaxed.owl central nervous system germinoma of childhood|Central nervous system germinoma|pediatric central nervous system germinoma UMLS:C1332953|NCIT:C27406|DOID:8078 owl:Class MONDO:0004363 biolink:NamedThing adult spinal cord glioblastoma A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5) tmpak2llvmy_mondo_relaxed.owl adult spinal cord glioblastoma multiforme|adult spinal cord glioblastoma|glioblastoma multiforme of spinal cord DOID:7806|NCIT:C27183|UMLS:C0559185|SCTID:276829003 owl:Class UBERON:0011862 biolink:NamedThing pulmonary collagen fibril The connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019644 biolink:NamedThing renal dysplasia, unilateral Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpak2llvmy_mondo_relaxed.owl unilateral renal dysplasia HP:0008718|Orphanet:93172|ICD10:Q61.4 owl:Class MONDO:0006871 biolink:NamedThing non-gestational choriocarcinoma A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl EFO:1001064|MESH:D031954|UMLS:C1135873|DOID:4320 owl:Class MONDO:0011885 biolink:NamedThing tubulointerstitial nephritis and uveitis syndrome An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. tmpak2llvmy_mondo_relaxed.owl TUBULOINTERSTITIAL nephritis with uveitis|Tubulointerstitial nephritis and uveitis|TINU|TINU syndrome|acute tubulointerstitial nephritis and uveitis syndrome|acute Tubulointerstitial nephritis|Dobrin syndrome GARD:0009252|MedDRA:10069034|MedDRA:10069039|NCIT:C123021|OMIM:607665|ICD10:N10|Orphanet:91500|UMLS:C1843273 owl:Class MONDO:0011768 biolink:NamedThing myasthenia gravis with thymus hyperplasia tmpak2llvmy_mondo_relaxed.owl myasthenia gravis with thymus hyperplasia|Myas1 UMLS:C1846838|MESH:C564628|OMIM:607085 owl:Class UBERON:0007747 biolink:NamedThing metacarpophalangeal joint of manual digit 5 A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5. tmpak2llvmy_mondo_relaxed.owl metacarpo-phalangeal joint of digit 5 of fore-paw|metacarpophalangeal joint of digit 5|metacarpophalangeal joint of fifth finger|metacarpophalangeal joint of manual digit V|metacarpophalangeal joint of fifth digit of hand|metacarpophalangeal joint of little finger owl:Class MONDO:0013075 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2|herpes simplex encephalitis, susceptibility to, 2|encephalopathy, acute, infection-induced, susceptibility to, 2|IIAE2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2 OMIM:613002 owl:Class HGNC:2033 biolink:NamedThing CLDN10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005386 biolink:NamedThing peripheral arterial disease A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. tmpak2llvmy_mondo_relaxed.owl peripheral arterial disorder|pad|peripheral artery disease DOID:0050830|EFO:0004265|ICD9:443.81|SCTID:399957001|MESH:D058729|NCIT:C84496 owl:Class MONDO:0002438 biolink:NamedThing acquired polycythemia An instance of polycythemia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired polycythemia|acquired polycythemia (disease)|polycythemia, secondary DOID:2834|ICD9:289.0|ICD10:D75.1 owl:Class MONDO:0006410 biolink:NamedThing simple endometrial hyperplasia A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. tmpak2llvmy_mondo_relaxed.owl UMLS:C0456483|ICD9:621.31|EFO:1000525|NCIT:C35463|SCTID:198324001 owl:Class GO:0120254 biolink:NamedThing olefinic compound metabolic process The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpak2llvmy_mondo_relaxed.owl alkene substituted compound metabolic process|alkene substituted compound metabolism owl:Class GO:0016447 biolink:NamedThing somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. tmpak2llvmy_mondo_relaxed.owl somatic recombination of antibody gene segments owl:Class MONDO:0013481 biolink:NamedThing chromosome 13q14 deletion syndrome Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. tmpak2llvmy_mondo_relaxed.owl chromosome 13Q deletion syndrome|Del(13)(q14)|chromosome 13q14 deletion syndrome|deletion 13q14|monosomy 13q14|del(13q14)|monosomy type 13q14 Orphanet:1587|MESH:C535484|ICD10:Q93.5|DOID:0060391|OMIM:613884|NCIT:C36421 owl:Class MONDO:0023100 biolink:NamedThing facial clefting corpus callosum agenesis tmpak2llvmy_mondo_relaxed.owl GARD:0002220 https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis owl:Class MONDO:0001179 biolink:NamedThing pinguecula A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. tmpak2llvmy_mondo_relaxed.owl DOID:11029|MESH:D059407|EFO:1001824|ICD10:H11.15|UMLS:C0152255|SCTID:87614000|ICD9:372.51 owl:Class ECTO:9002131 biolink:NamedThing exposure to flame retardant An exposure to flame retardant. tmpak2llvmy_mondo_relaxed.owl exposure to flame retardant owl:Class MONDO:0011887 biolink:NamedThing cataract, congenital, with mental impairment and dentate gyrus atrophy tmpak2llvmy_mondo_relaxed.owl cataract, congenital, with mental impairment and dentate gyrus atrophy OMIM:607674|MESH:C564353|UMLS:C1843257 owl:Class MONDO:0020724 biolink:NamedThing cerebral cavernous malformation 1 tmpak2llvmy_mondo_relaxed.owl cerebral cavernous malformations|cerebral cavernous malformations 1|cavernous malformations of CNS and retina|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral cavernous malformation 1|cavernous angioma, familial|cavernous angiomatous malformations|CCM|cerebral capillary malformations|familial cerebral cavernous malformation 1 OMIM:116860|DOID:0080491 owl:Class HGNC:1573 biolink:NamedThing KRIT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001624 biolink:NamedThing acute sphenoidal sinusitis Acute form of sphenoid sinusitis. tmpak2llvmy_mondo_relaxed.owl sphenoidal sinus -acute|acute sphenoid sinusitis|sphenoid sinusitis, acute DOID:13046|ICD10:J01.30|ICD9:461.3|ICD10:J01.3|SCTID:77919000|UMLS:C0155807 owl:Class HP:0031375 biolink:NamedThing Refractory Applies to a sign or symptom that is difficult to treat or cure. tmpak2llvmy_mondo_relaxed.owl 2017-09-02 01:54:32+00:00 peter human_phenotype owl:Class UBERON:0012468 biolink:NamedThing anal tooth Triangular calcified papillae (often five) placed radially around the anus of some Holothuriidae tmpak2llvmy_mondo_relaxed.owl calcified anal papilla|anal teeth|cloacal tooth|perianal tooth owl:Class GO:0003845 biolink:NamedThing 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). tmpak2llvmy_mondo_relaxed.owl corticosteroid 11-reductase|beta-hydroxysteroid dehydrogenase|11beta-hydroxy steroid dehydrogenase|corticosteroid 11beta-dehydrogenase|11beta-hydroxysteroid dehydrogenase|dehydrogenase, 11beta-hydroxy steroid owl:Class MONDO:0009606 biolink:NamedThing methemoglobinemia due to deficiency of methemoglobin reductase tmpak2llvmy_mondo_relaxed.owl methemoglobinemia, congenital, autosomal recessive|methemoglobinemia due to deficiency of methemoglobin reductase|NADH-cytochrome B5 reductase deficiency|NADH diaphorase deficiency|methemoglobinemia, type 1|NADH cytochrome B5 reductase deficiency|NADH methemoglobin reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-dependent methemoglobin reductase deficiency|methemoglobinemia, type 2|NADH-cytochrome B5 reductase deficiency, type 1 OMIM:250800|GARD:0003909 owl:Class HGNC:2873 biolink:NamedThing CYB5R3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001481 biolink:NamedThing femoral vein thrombophlebitis A thrombophlebitis that involves the femoral vein. tmpak2llvmy_mondo_relaxed.owl thrombophlebitis of deep femoral vein|thrombophlebitis of the femoral vein|thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial)|phlebitis and thrombophlebitis of femoral vein|femoral vein thrombophlebitis UMLS:C0265066|ICD9:451.11|DOID:12282|ICD10:I80.1|SCTID:1748006 owl:Class HGNC:1393 biolink:NamedThing CACNA1F tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011390 biolink:NamedThing focal segmental glomerulosclerosis 2 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. tmpak2llvmy_mondo_relaxed.owl FSGS2|focal segmental glomerulosclerosis caused by mutation in TRPC6|glomerulosclerosis, focal segmental, 2|focal segmental glomerulosclerosis 2|focal segmental glomerulosclerosis type 2|TRPC6 focal segmental glomerulosclerosis ICD10:N04.1|OMIM:603965|MESH:C565831|DOID:0111129|UMLS:C1858915 owl:Class HGNC:12338 biolink:NamedThing TRPC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004013 biolink:NamedThing adult vagina botryoid embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. tmpak2llvmy_mondo_relaxed.owl adult sarcoma Botryoides of the vagina|adult botryoid-type embryonal rhabdomyosarcoma of the vagina|adult vagina botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults NCIT:C40267|DOID:6848|UMLS:C1515893 Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma owl:Class GO:0007411 biolink:NamedThing axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. tmpak2llvmy_mondo_relaxed.owl axon pathfinding|axon growth cone guidance|axon chemotaxis owl:Class HGNC:1762 biolink:NamedThing CDH3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021540 biolink:NamedThing hamartoma of lung A hamartoma (disease) that involves the lung. tmpak2llvmy_mondo_relaxed.owl hamartoma of the lung|lung hamartoma|lung chondroid hamartoma|pulmonary hamartoma|lung hamartoma (disease) ICD9:235.7|NCIT:C3497|SCTID:254644003|UMLS:C0149927 owl:Class HGNC:12469 biolink:NamedThing UBA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010695 biolink:NamedThing mesenchyme of tarsal region Mesenchyme of the carpal region that contributes to the tarsal skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001924 biolink:NamedThing dystrophies primarily involving the retinal pigment epithelium tmpak2llvmy_mondo_relaxed.owl ICD9:362.76|DOID:14252|ICD10:H35.54 owl:Class UBERON:0035198 biolink:NamedThing superficial lymphatic vessel The tubules that carry lymph throughout the body that are just beneath the surface of the skin. tmpak2llvmy_mondo_relaxed.owl superficial lymph vessel owl:Class UBERON:0035549 biolink:NamedThing vasculature of integument The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. tmpak2llvmy_mondo_relaxed.owl vasculature of skin|subcutaneous vasculature|superficial part of circulatory system|superficial vasculature|skin vasculature|hypodermis vasculature|dermis vasculature owl:Class CHEBI:57756 biolink:NamedThing sphingosine(1+) The cationic sphingoid resulting from the protonation of the amino group of sphingosine. tmpak2llvmy_mondo_relaxed.owl sphing-4-enine|(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium owl:Class HGNC:12530 biolink:NamedThing UGT1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002725 biolink:NamedThing Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. tmpak2llvmy_mondo_relaxed.owl SLE MSH:D008180|UMLS:C0024141|SNOMEDCT_US:55464009 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. human_phenotype owl:Class OBO:CHR_9606-chr4p16 biolink:NamedThing chr4p16 (Human) tmpak2llvmy_mondo_relaxed.owl 11300000 0 hg38 owl:Class MONDO:0014789 biolink:NamedThing CCDC115-CDG tmpak2llvmy_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IIo|congenital disorder of glycosylation type 2o|CDG syndrome type IIo|CDG2O|CDG-IIo|CDG IIo|congenital disorder of glycosylation type IIo|congenital disorder of glycosylation, type IIo OMIM:616828|DOID:0070267|Orphanet:468684 owl:Class MONDO:0024288 biolink:NamedThing hyperbilirubinemia A disease characterized by elevated level of the pigment bilirubin in the blood. tmpak2llvmy_mondo_relaxed.owl hyperbilirubinemia|bilirubinemia UMLS:C0020433|SCTID:14783006 May be acquired or inherited owl:Class HP:0002904 biolink:NamedThing Hyperbilirubinemia An increased amount of bilirubin in the blood. tmpak2llvmy_mondo_relaxed.owl High blood bilirubin levels UMLS:C0311468|SNOMEDCT_US:26165005 human_phenotype owl:Class HGNC:15573 biolink:NamedThing SETBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007171 biolink:NamedThing atrial standstill 1 Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene. tmpak2llvmy_mondo_relaxed.owl ATRST1|atrial standstill type 1|cardiomyopathy, familial, with conduction disturbance|atrial standstill caused by mutation in GJA5|atrial cardiomyopathy with heart block|atrial standstill 1|GJA5 atrial standstill OMIM:108770 owl:Class MONDO:0013129 biolink:NamedThing cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene. tmpak2llvmy_mondo_relaxed.owl achromatopsia 5|cone dystrophy type 4|cone dystrophy caused by mutation in PDE6C|COD4|cone dystrophy 4|PDE6C cone dystrophy NCIT:C164226|OMIM:613093 owl:Class HGNC:8787 biolink:NamedThing PDE6C tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000959 biolink:NamedThing T2 B cell A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive. tmpak2llvmy_mondo_relaxed.owl transitional stage 2 B cell|T2 B lymphocyte|T2 B-lymphocyte|T2 B-cell T2 B cells are also reportedly CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class CHEBI:33484 biolink:NamedThing chalcogen oxoacid tmpak2llvmy_mondo_relaxed.owl chalcogen oxoacid|chalcogen oxoacids owl:Class CHEBI:138103 biolink:NamedThing inorganic acid A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water. tmpak2llvmy_mondo_relaxed.owl inorganic acids|mineral acid|mineral acids owl:Class MONDO:0015803 biolink:NamedThing wound botulism Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. tmpak2llvmy_mondo_relaxed.owl skin toxin-mediated botulism|skin infectious botulism|cutaneous toxin-mediated botulism|inoculation botulism|cutaneous infectious botulism DOID:0050353|ICD10:A48.52|UMLS:C1306794|ICD10:A05.1|ICD9:040.42|NCIT:C128342|Orphanet:178475|SCTID:398530003 owl:Class NCBITaxon:36831 biolink:NamedThing Clostridium botulinum F tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:8863443 ncbi_taxonomy owl:Class UBERON:8410000 biolink:NamedThing duodeno-jejunal junction The anatomical junction between the duodenum and the jejunum. tmpak2llvmy_mondo_relaxed.owl flexura duodenojejunalis|duodenojejunal junction|duodeno-jejunal flexure|duodenojejunal flexure owl:Class UBERON:0014454 biolink:NamedThing visceral abdominal adipose tissue Subcutaneous adipose tissue that is located in the peritoneal cavity. tmpak2llvmy_mondo_relaxed.owl intra-abdominal fat|organ fat|visceral fat|abdominal fat|intra-abdominal adipose tissue|visceral adipose tissue owl:Class MONDO:0020727 biolink:NamedThing combined oxidative phosphorylation deficiency 22 tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 22|combined oxidative phosphorylation deficiency type 22|COXPD22 DOID:0111498|OMIM:616045 owl:Class MONDO:0017802 biolink:NamedThing ovarian fibrothecoma Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). tmpak2llvmy_mondo_relaxed.owl ICD10:D27|Orphanet:314478|SCTID:765190005|UMLS:CN203762 owl:Class MONDO:0009868 biolink:NamedThing glycogen storage disease IXb Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. tmpak2llvmy_mondo_relaxed.owl glycogen storage disease type IXb|glycogen storage disease caused by mutation in PHKB|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|GSD type IXb|PHKB-related glycogen storage disease type IX|GSD IXb|glycogen storage disease type 9B|glycogenosis type 9B|glycogen storage disease IXb|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|GSD type 9B|PHKB glycogen storage disease|glycogenosis type IXb|GSD due to liver and muscle phosphorylase kinase deficiency|GSD9B MESH:C563008|ICD10:E74.0|DOID:0111041|OMIM:261750|UMLS:C0543514|Orphanet:79240 owl:Class MONDO:0056813 biolink:NamedThing hormone-resistant breast carcinoma Breast carcinoma that does not respond to hormone therapy. tmpak2llvmy_mondo_relaxed.owl hormone-resistant breast carcinoma|hormone-resistant breast cancer|hormone-refractory breast cancer NCIT:C114932 owl:Class NCIT:C147564 biolink:NamedThing Hormone Resistance tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005446 biolink:NamedThing cutaneous leishmaniasis Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. tmpak2llvmy_mondo_relaxed.owl leproid leishmaniasis|Asian desert cutaneous leishmaniasis|zone of skin leishmaniasis SCTID:186807008|ICD9:085.2|EFO:0005046|NCIT:C34770|DOID:9111|ICD10:B55.1|UMLS:C0023283|MESH:D016773 owl:Class UBERON:0001994 biolink:NamedThing hyaline cartilage tissue Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. tmpak2llvmy_mondo_relaxed.owl hyaline cartilage|chondroid cartilage owl:Class GO:1903564 biolink:NamedThing regulation of protein localization to cilium Any process that modulates the frequency, rate or extent of protein localization to cilium. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051054 biolink:NamedThing positive regulation of DNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpak2llvmy_mondo_relaxed.owl positive regulation of DNA metabolism|up regulation of DNA metabolic process|up-regulation of DNA metabolic process|activation of DNA metabolic process|upregulation of DNA metabolic process|stimulation of DNA metabolic process owl:Class MONDO:0014829 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 4 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome|ICF4|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|ICF syndrome 4 ICD10:D84.8|OMIM:616911|UMLS:C4310798|DOID:0090011 owl:Class HGNC:4861 biolink:NamedThing HELLS tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3583 biolink:NamedThing FANCB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9498 biolink:NamedThing PSAP tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:13850 biolink:NamedThing apoprotein An apoprotein is a protein devoid of its characteristic prosthetic group or metal. tmpak2llvmy_mondo_relaxed.owl apoprotein|apoproteins owl:Class CHEBI:17334 biolink:NamedThing penicillin Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. tmpak2llvmy_mondo_relaxed.owl penicillins|Penicillin owl:Class HGNC:4241 biolink:NamedThing GFPT1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0043069 biolink:NamedThing negative regulation of programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpak2llvmy_mondo_relaxed.owl down-regulation of programmed cell death|down regulation of programmed cell death|inhibition of programmed cell death|negative regulation of non-apoptotic programmed cell death|downregulation of programmed cell death owl:Class GO:0012501 biolink:NamedThing programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. tmpak2llvmy_mondo_relaxed.owl caspase-independent cell death|RCD|non-apoptotic programmed cell death|PCD|nonapoptotic programmed cell death|caspase-independent apoptosis|regulated cell death owl:Class ENVO:01001681 biolink:NamedThing weather front A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena. tmpak2llvmy_mondo_relaxed.owl meteorological front owl:Class MONDO:0021969 biolink:NamedThing Banti syndrome A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. tmpak2llvmy_mondo_relaxed.owl idiopathic portal hypertension|Banti's disease|Banti's syndrome|idiopathic congestive splenomegaly GARD:0005888|MESH:C537903 https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome owl:Class MONDO:0005080 biolink:NamedThing portal hypertension Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. tmpak2llvmy_mondo_relaxed.owl UMLS:C0020541|DOID:10762|SCTID:34742003|MESH:D006975|GARD:0008229|ICD9:572.3|NCIT:C3119|EFO:0000666|ICD10:K76.6 owl:Class GO:0097711 biolink:NamedThing ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. tmpak2llvmy_mondo_relaxed.owl ciliary basal body docking|anchoring of the basal body to the plasma membrane owl:Class MONDO:0014366 biolink:NamedThing spermatogenic failure 14 Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure type 14|ZMYND15 azoospermia|spermatogenic failure 14|SPGF14|azoospermia caused by mutation in ZMYND15 DOID:0070179|UMLS:C4014454|OMIM:615842 owl:Class HGNC:20997 biolink:NamedThing ZMYND15 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:60056 biolink:NamedThing cocaine(1+) The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine cation|cocaine owl:Class UBERON:0009973 biolink:NamedThing ureterovesical junction The valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney tmpak2llvmy_mondo_relaxed.owl vesicoureteric junction|vesico-ureteral junction|vesico-ureteric junction owl:Class UBERON:0006210 biolink:NamedThing body-wall mesenchyme tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15532 biolink:NamedThing JAM3 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p biolink:NamedThing chr2p (Human) tmpak2llvmy_mondo_relaxed.owl 93900000 0 hg38 owl:Class MONDO:0013435 biolink:NamedThing primary ciliary dyskinesia 15 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 15, with or without situs inversus|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia caused by mutation in CCDC40|CILD15|CCDC40 primary ciliary dyskinesia|primary ciliary dyskinesia type 15|primary ciliary dyskinesia 15 with or without situs inversus|primary ciliary dyskinesia 15|ciliary dyskinesia, primary, 15 UMLS:C3151137|ICD10:Q34.8|OMIM:613808|DOID:0110623 owl:Class HGNC:26090 biolink:NamedThing CCDC40 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009806 biolink:NamedThing Bruck syndrome 1 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. tmpak2llvmy_mondo_relaxed.owl BRKS1|Bruck syndrome caused by mutation in FKBP10|Kuskokwim disease|Bruck syndrome type 1|FKBP10 Bruck syndrome|arthrogryposis-like disorder|Bruck syndrome 1 GARD:0001029|UMLS:C1850168|OMIM:259450 owl:Class HGNC:18169 biolink:NamedThing FKBP10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009613 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblA An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. tmpak2llvmy_mondo_relaxed.owl MMA Cbl A type|cobalamin b disease|cobalamin locus a variant|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type|vitamin B12-responsive methylmalonic aciduria type cblA|cblA - cobalamin locus a|cobalamin a disease|methylmalonic acidemia cblA type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|cblB - cobalamin locus b|vitamin B12-responsive methylmalonic acidemia type cblA|methylmalonic aciduria, cblA type|cobalamin locus b variant|methylmalonic aciduria cblA type|methylmalonic acidemia, cblA type|cblA methylmalonic acidemia|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|cblB methylmalonic acidemia NCIT:C142171|ICD10:E71.1|SCTID:82245003|UMLS:C0342721|DOID:0060742|UMLS:C1855109|Orphanet:79310|SCTID:73843004|UMLS:C0342722|GARD:0005500|OMIM:251100 owl:Class HsapDv:0000142 biolink:NamedThing 48-year-old human stage Middle aged stage that refers to an adult who is over 48 and under 49. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:40272 biolink:NamedThing Roseolovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:MF_0000076 biolink:NamedThing intentional modality A structural capacity that shapes how an object of intentionality is represented for the subject. tmpak2llvmy_mondo_relaxed.owl intentional structure|intentional mode An example of an intentional modality is the capacity to represent objects of intentionality as unfolding in time or being time contingent. owl:Class GO:1905216 biolink:NamedThing positive regulation of RNA binding Any process that activates or increases the frequency, rate or extent of RNA binding. tmpak2llvmy_mondo_relaxed.owl up-regulation of RNA binding|upregulation of RNA binding|up regulation of RNA binding|activation of RNA binding owl:Class GO:0003723 biolink:NamedThing RNA binding Binding to an RNA molecule or a portion thereof. tmpak2llvmy_mondo_relaxed.owl poly(A)-RNA binding|base pairing with RNA|poly-A RNA binding|poly(A) RNA binding owl:Class UBERON:0004871 biolink:NamedThing somatic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. tmpak2llvmy_mondo_relaxed.owl outer layer of lateral plate mesoderm|somatic mesoderm|parietal mesoderm owl:Class MONDO:0005118 biolink:NamedThing human granulocytic ehrlichiosis A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. tmpak2llvmy_mondo_relaxed.owl human granulocytic ehrlichiosis|human anaplasmosis due to Anaplasma phagocytophilum|HGE|infection by Anaplasma phagocytophilum|human anaplasmosis caused by Anaplasma phagocytophilum|human granulocytic anaplasmosis|human ehrlichial infection, human granulocytic type ICD9:082.49|DOID:0050025|GARD:0000071|EFO:0000777|SCTID:85708001 owl:Class UBERON:0001621 biolink:NamedThing coronary artery An artery that supplies the myocardium. tmpak2llvmy_mondo_relaxed.owl coronary vessel|coronary arterial tree owl:Class CL:0000236 biolink:NamedThing B cell A lymphocyte of B lineage that is capable of B cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl B lymphocyte|B-lymphocyte|B-cell FMA:62869|VHOG:0001480|CALOHA:TS-0068|BTO:0000776 cell owl:Class GO:0019724 biolink:NamedThing B cell mediated immunity Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. tmpak2llvmy_mondo_relaxed.owl B lymphocyte mediated immune effector process|B-cell mediated immunity|B-lymphocyte mediated immunity|B-lymphocyte mediated immune effector process|B-cell mediated immune effector process|B lymphocyte mediated immunity owl:Class UBERON:0014687 biolink:NamedThing temporal sulcus Any of three grooves in the temporal lobe including the inferior, middle, and superior temporal sulci. tmpak2llvmy_mondo_relaxed.owl temporal lobe sulci|temporal lobe sulcus owl:Class CHEBI:27363 biolink:NamedThing zinc atom tmpak2llvmy_mondo_relaxed.owl Zink|Zn2+|zinc|Zn|30Zn|Zn(II)|zincum|cinc owl:Class GO:1901999 biolink:NamedThing homogentisate metabolic process The chemical reactions and pathways involving homogentisate. tmpak2llvmy_mondo_relaxed.owl homogentisate metabolism owl:Class MONDO:0013992 biolink:NamedThing obesity due to leptin receptor gene deficiency tmpak2llvmy_mondo_relaxed.owl obesity due to leptin receptor gene deficiency|leptin receptor deficiency|obesity, morbid, nonsyndromic 2 Orphanet:179494|OMIM:614963|UMLS:C3554225|NCIT:C120386|ICD10:E66.8 owl:Class HGNC:6554 biolink:NamedThing LEPR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002617 biolink:NamedThing bone angiosarcoma A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. tmpak2llvmy_mondo_relaxed.owl bone angiosarcoma|osseous hemangiosarcoma|osseous angioendothelial sarcoma|bone angioendothelial sarcoma|bone tissue angiosarcoma (disease)|angiosarcoma (disease) of bone tissue|osseous angiosarcoma|bone hemangiosarcoma|bone Hemangioendothelial sarcoma NCIT:C6479|UMLS:C1332574|DOID:3351 owl:Class GO:0046850 biolink:NamedThing regulation of bone remodeling Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046849 biolink:NamedThing bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. tmpak2llvmy_mondo_relaxed.owl bone remodelling owl:Class UBERON:0012152 biolink:NamedThing skeleton of pedal digitopodium A subdivision of the pes skeleton consisting of both pedal acropodial skeleton and metatarsal skeleton, but excluding the tarsal skeleton. tmpak2llvmy_mondo_relaxed.owl pedal digitopodium owl:Class HGNC:6239 biolink:NamedThing KCND3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001070 biolink:NamedThing external carotid artery A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP] tmpak2llvmy_mondo_relaxed.owl arteria carotis externa|external carotid owl:Class UBERON:1000011 biolink:NamedThing labial commissure Anatomical structure consisting of either corner of the mouth. tmpak2llvmy_mondo_relaxed.owl corner of mouth|commissural lip|commissura labiorum oris owl:Class UBERON:0001950 biolink:NamedThing neocortex An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN) tmpak2llvmy_mondo_relaxed.owl isocortex|nucleus hypoglossalis|cerebral neocortex|homotypical cortex|neopallial cortex|isocortex (sensu lato)|neopallium|iso-cortex|nonolfactory cortex|neocortex (isocortex)|homogenetic cortex owl:Class FOODON:03400260 biolink:NamedThing nut or nut product (us cfr) Nuts in all forms, including nut butters and pastes. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0260 http://langual.org owl:Class GO:1904689 biolink:NamedThing negative regulation of cytoplasmic translational initiation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. tmpak2llvmy_mondo_relaxed.owl down regulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|downregulation of cytoplasmic translational initiation|down-regulation of cytoplasmic translational initiation owl:Class GO:0002183 biolink:NamedThing cytoplasmic translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011329 biolink:NamedThing cerebral palsy, spastic quadriplegic, 1 Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene. tmpak2llvmy_mondo_relaxed.owl spastic tetraplegia cerebral palsy|cerebral palsy, spastic quadriplegic, 1|spastic quadriplegia cerebral palsy|spastic quadriplegia caused by mutation in GAD1|CPSQ1|cerebral palsy spastic quadriplegic|GAD1 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 1|spastic quadriplegic cerebral palsy 2021-01-01 UMLS:C2751938|MESH:C567853|GARD:0010447|OMIM:603513 Reason: duplicate. This will be merged with MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic owl:Class HGNC:4092 biolink:NamedThing GAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005901 biolink:NamedThing pasteurellosis Infections with bacteria of the genus pasteurella. tmpak2llvmy_mondo_relaxed.owl Pasteurella disease or disorder|Pasteurella infection|Pasteurella caused disease or disorder|Pasteurella infectious disease EFO:0007424|ICD9:027.2|ICD10:A28.0|UMLS:C0030636|DOID:11055|SCTID:83172007|MESH:D010326 owl:Class MONDO:0009704 biolink:NamedThing carnitine palmitoyl transferase II deficiency, myopathic form The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. tmpak2llvmy_mondo_relaxed.owl CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|CPT2, myopathic form|Carnitine palmitoyl transferase II deficiency, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase deficiency type 2, myopathic form|CPT 2 deficiency, myopathic|CPTII, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, myopathic|carnitine palmitoyl transferase II deficiency, myopathic form|CPT2, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|Cpt2 deficiency, late-onset|CPTII, myopathic form OMIM:255110|ICD10:E71.3|MESH:C563461|Orphanet:228302|UMLS:C1833508 owl:Class HGNC:2330 biolink:NamedThing CPT2 tmpak2llvmy_mondo_relaxed.owl owl:Class Nebfd90c2e9664b87b3b19a7b2259800d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0009044 biolink:NamedThing lymphocyte of small intestine lamina propria A lymphocyte that resides in the lamina propria of the small intestine. Lamina propria leukocytes and intraepithelial lymphocytes are the effector compartments of the gut mucosal immune system. Lymphocytes circulate through gut associated lymphoid tissues until recruitment by intestinal antigens. They are involved in the gut immune response. tmpak2llvmy_mondo_relaxed.owl gastrointestinal tract small intestine (lamina propria) leukocyte|small intestine lamina propria leukocyte|gastrointestinal tract (lamina propria) lymphocyte of small intestine|lamina propria lymphocyte of small intestine|small intestine lamina propria leukocyte (LPL)|small intestine lamina propria lymphocyte owl:Class ECTO:0000922 biolink:NamedThing exposure to EC 3.5.1.4 (amidase) inhibitor An exposure to EC 3.5.1.4 (amidase) inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to EC 3.5.1.4 (amidase) inhibitor owl:Class HGNC:325 biolink:NamedThing AGPAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018145 biolink:NamedThing lumbar rib A rib that is attached to a lumbar vertebra. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015148 biolink:NamedThing tail hair A strand of hair that is part of a tail. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002415 biolink:NamedThing tail An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail tmpak2llvmy_mondo_relaxed.owl caudal subdivision owl:Class MONDO:0013392 biolink:NamedThing autosomal recessive spinocerebellar ataxia 10 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene. tmpak2llvmy_mondo_relaxed.owl ANO10 autosomal recessive cerebellar ataxia|adult-onset autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10|SCAR10|autosomal recessive cerebellar ataxia caused by mutation in ANO10|spinocerebellar ataxia, autosomal recessive type 10|autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289|UMLS:C3150998|OMIM:613728|DOID:0050999|ICD10:G11.2 owl:Class HGNC:25519 biolink:NamedThing ANO10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100312 biolink:NamedThing vestibular ataxia Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011091 biolink:NamedThing Charcot-Marie-Tooth disease type 2D Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. tmpak2llvmy_mondo_relaxed.owl GARS Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS|Charcot Marie Tooth disease type 2D|Charcot-Marie-Tooth disease, neuronal, type 2D|Charcot-Marie-Tooth disease neuronal type 2D|CMT2D|Charcot-Marie-Tooth disease, axonal, type 2D|CMT 2D|Charcot-Marie-Tooth neuropathy type 2D|Charcot-Marie-Tooth neuropathy, type 2D SCTID:717011006|ICD10:G60.0|Orphanet:99938|DOID:0110164|OMIM:601472|UMLS:C1832274|UMLS:C4274109|MESH:C537993|GARD:0001251|NCIT:C122659 https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d owl:Class HGNC:4162 biolink:NamedThing GARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5 biolink:NamedThing chr5 (Human) tmpak2llvmy_mondo_relaxed.owl 181538259 0 hg38 owl:Class UBERON:0034928 biolink:NamedThing dorsal surface of penis tmpak2llvmy_mondo_relaxed.owl dorsum penis|dorsum of penis owl:Class CL:0000936 biolink:NamedThing early lymphoid progenitor A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative. tmpak2llvmy_mondo_relaxed.owl GMLP|LMPP|lymphoid-primed multipotent progenitor|ELP Markers are associated with mouse cells. ELP transcription factors include E2A-positive, Ikaros-positive, EBF-negative, Pax5-negative, PU.1-negative. cell owl:Class UBERON:0006757 biolink:NamedThing lateral lingual swelling During the third week there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings (or distal tongue bud) which rise from the inner surface of the mandibular arch and meet in the middle line. tmpak2llvmy_mondo_relaxed.owl lateral swellings|tuberculum linguale laterale|tuberculum laterale|lateral lingual prominence owl:Class MONDO:0003515 biolink:NamedThing fallopian tube teratoma A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. tmpak2llvmy_mondo_relaxed.owl fallopian tube teratoma UMLS:C1517127|DOID:5564|NCIT:C40131 owl:Class HGNC:19661 biolink:NamedThing TNNI3K tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901402 biolink:NamedThing negative regulation of tetrapyrrole metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. tmpak2llvmy_mondo_relaxed.owl down regulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|down regulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|inhibition of tetrapyrrole metabolic process|downregulation of tetrapyrrole metabolic process|downregulation of tetrapyrrole metabolism|negative regulation of tetrapyrrole metabolism|inhibition of tetrapyrrole metabolism owl:Class UBERON:0006657 biolink:NamedThing glenoid fossa Anatomical cavity for the proximal articular surface of the proximal limb or fin element with the scapulocoracoid or equivalent structure. tmpak2llvmy_mondo_relaxed.owl glenoid cavity of scapula|glenoid cavity|cavitas glenoidalis|cavitus glenoidalis|cavitas glenoidalis scapulae|glenoid facet owl:Class HGNC:6677 biolink:NamedThing LPL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003727 biolink:NamedThing intercostal nerve The intercostal nerves are the anterior divisions (rami anteriores; ventral divisions) of the thoracic spinal nerves from T1 to T11. Each nerve is connected with the adjoining ganglion of the sympathetic trunk by a gray and a white ramus communicans. The intercostal nerves are distributed chiefly to the thoracic pleura and abdominal peritoneum and differ from the anterior divisions of the other spinal nerves in that each pursues an independent course without plexus formation. The first two nerves supply fibers to the upper limb in addition to their thoracic branches; the next four are limited in their distribution to the parietes of the thorax; the lower five supply the parietes of the thorax and abdomen. The 7th intercostal nerve terminates at the xyphoid process, at the lower end of the sternum. The 10th intercostal nerve terminates at the umbilicus. The twelfth thoracic is distributed to the abdominal wall and groin. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl nervi intercostales|ramus anterior, nervus thoracicus|thoracic anterior ramus|ventral ramus of thoracic spinal nerve|anterior ramus of thoracic nerve|anterior ramus of thoracic spinal nerve owl:Class UBERON:0014766 biolink:NamedThing right crus of diaphragm A crus of diaphragm that is in_the_right_side_of a diaphragm. tmpak2llvmy_mondo_relaxed.owl external sphincter of esophagus|crus dextrum (Diaphragma)|crus dextrum diaphragmatis|right crus of lumbar part of diaphragm|right crus of diaphragm owl:Class UBERON:0004378 biolink:NamedThing proximal metaphysis A metaphysis that is in the proximal side of a diaphysis. tmpak2llvmy_mondo_relaxed.owl proximal diaphyseal end of long bone owl:Class PATO:0001375 biolink:NamedThing haploid A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002259 biolink:NamedThing gonadal disease A non-neoplastic or neoplastic disorder that affects the testis or the ovary. tmpak2llvmy_mondo_relaxed.owl gonad disease or disorder|gonad disease|gonadal disorders|disease of gonad|gonadal disorder|disorder of gonads|disease or disorder of gonad|disorder of gonad UMLS:C0018050|MESH:D006058|DOID:2277|NCIT:C26786 owl:Class MONDO:0033615 biolink:NamedThing coenzyme q10 deficiency, primary, 9 tmpak2llvmy_mondo_relaxed.owl COQ10D9 OMIM:619028 owl:Class HGNC:28722 biolink:NamedThing COQ5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14977 biolink:NamedThing SNX14 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11270 biolink:NamedThing Rhabdoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:16186241 ncbi_taxonomy owl:Class HGNC:8783 biolink:NamedThing PDE4D tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002148 biolink:NamedThing dental pulp cell A cell found within the dental pulp. tmpak2llvmy_mondo_relaxed.owl FMA:87170|BTO:0000339|CALOHA:TS-0195 tmeehan 2010-08-24T02:52:09Z cell owl:Class UBERON:0001754 biolink:NamedThing dental pulp The part in the center of a tooth made up of living soft tissue and cells called odontoblasts[WP]. tmpak2llvmy_mondo_relaxed.owl tooth pulp|dental pulp cell|pulp of tooth owl:Class MONDO:0000519 biolink:NamedThing corpus callosum oligodendroglioma A oligodendroglioma that involves the corpus callosum. tmpak2llvmy_mondo_relaxed.owl oligodendroglioma of corpus callosum|corpus callosum oligodendroglioma DOID:0050901 owl:Class UBERON:0001359 biolink:NamedThing cerebrospinal fluid A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. tmpak2llvmy_mondo_relaxed.owl cerebral spinal fluid|liquor cerebrospinalis|CSF|spinal fluid owl:Class CL:0002333 biolink:NamedThing neural crest derived fat cell A fat cell derived from a neural crest cell. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-20T02:25:25Z cell owl:Class OBO:CHR_9606-chr3q13.3 biolink:NamedThing chr3q13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 122200000 113700000 hg38 owl:Class MONDO:0012145 biolink:NamedThing macular degeneration, age-related, 3 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. tmpak2llvmy_mondo_relaxed.owl HNARMD|FBLN5 age-related macular degeneration|ARMD3|age-related macular degeneration caused by mutation in FBLN5|neuropathy, hereditary, with or without age-related macular Degeneration|neuropathy, hereditary, with or without age-related macular degeneration|macular Degeneration, age-related, type 3|macular degeneration, age-related, 3 OMIM:608895|MESH:C563838|UMLS:C1837187 owl:Class MONDO:0014987 biolink:NamedThing Fanconi anemia complementation group U Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type U|Fanconi anemia caused by mutation in XRCC2|Fanconi anemia, complementation GROUP U|FANCU|Fanconi Anemia, complementation group type U|Fanconi Anemia, complementation group U|XRCC2 Fanconi anemia OMIM:617247|DOID:0111085|UMLS:C4310651 owl:Class HGNC:12829 biolink:NamedThing XRCC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009482 biolink:NamedThing hypogonadotropic hypogonadism 3 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. tmpak2llvmy_mondo_relaxed.owl PROKR2 hypogonadotropic hypogonadism|KAL3|Kallmann syndrome 3|hypogonadotropic hypogonadism 3 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROKR2|HH3 OMIM:244200|UMLS:C3550478|ICD10:E23.0|GARD:0003073|DOID:0090092 owl:Class CL:0002030 biolink:NamedThing Fc-epsilon RIalpha-high basophil progenitor cell A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:32Z cell owl:Class CL:0002044 biolink:NamedThing Kit-positive, integrin beta7-high basophil mast progenitor cell A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:38Z cell owl:Class GO:0008482 biolink:NamedThing sulfite oxidase activity Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. tmpak2llvmy_mondo_relaxed.owl sulfite:oxygen oxidoreductase activity|sulphite oxidase activity owl:Class HGNC:4586 biolink:NamedThing GRIN2B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001803 biolink:NamedThing regulation of type III hypersensitivity Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003536 biolink:NamedThing right lung alveolar duct An alveolar duct that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl alveolar duct of right lung owl:Class HP:0031097 biolink:NamedThing Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl Abnormal circulating thyrotropin concentration|Abnormal TSH level|Abnormal thyrotropin level 2017-05-30 02:12:45+00:00 peter human_phenotype owl:Class ENVO:09200002 biolink:NamedThing environmental system process quality The quality of a environmental system process. tmpak2llvmy_mondo_relaxed.owl quality of environmental system process owl:Class UBERON:0006871 biolink:NamedThing embryonic footplate the distal elements of the developing limb of vertebrates that will give rise to the pes (foot) tmpak2llvmy_mondo_relaxed.owl foot plate|footplate|foot disk|distal part of hindlimb bud owl:Class MONDO:0009346 biolink:NamedThing histidinuria due to a renal tubular defect tmpak2llvmy_mondo_relaxed.owl histidinuria due to a renal tubular defect|histidinuria-renal tubular defect syndrome GARD:0002708|OMIM:235830|MESH:C538321|UMLS:C0268642|Orphanet:2158|ICD10:E70.8 owl:Class UBERON:0016400 biolink:NamedThing infrapatellar fat pad The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5099 biolink:NamedThing HOXA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011280 biolink:NamedThing schizophrenia 6 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. tmpak2llvmy_mondo_relaxed.owl SCZD6|schizophrenia 6|schizophrenia susceptibility locus, chromosome 8P-related UMLS:C1864275|OMIM:603013|DOID:0070082 owl:Class HGNC:12423 biolink:NamedThing TULP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014614 biolink:NamedThing cervical spinal cord white matter A white matter of spinal cord that is part of a cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cervical spinal cord white matter owl:Class HGNC:11779 biolink:NamedThing TGM3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007105 biolink:NamedThing vitelline duct A long narrow tube that joins the yolk-sac to the midgut lumen of the developing fetus. tmpak2llvmy_mondo_relaxed.owl yolk duct|omphalomesenteric duct|ductus vitellinus|embryonic yolk stalk|yolk-stalk owl:Class ENVO:01000895 biolink:NamedThing snowfall A hydrological process in which irregular aggregates of snow fall to a planetary surface. tmpak2llvmy_mondo_relaxed.owl snow fall owl:Class HGNC:5285 biolink:NamedThing HTOR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012670 biolink:NamedThing autosomal recessive nonsyndromic deafness 63 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 63|autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT|autosomal recessive nonsyndromic deafness type 63|LRTOMT autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 63|autosomal recessive nonsyndromic deafness 63|deafness, autosomal recessive 63|DFNB63 DOID:0110515|MESH:C566951|ICD10:H90.3|UMLS:C1969621|OMIM:611451 owl:Class HGNC:25033 biolink:NamedThing LRTOMT tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:16234 biolink:NamedThing hydroxide tmpak2llvmy_mondo_relaxed.owl oxidanide|hydridooxygenate(1-)|OH-|HO-|Hydroxide ion|hydroxide|HYDROXIDE ION|OH(-) owl:Class MONDO:0004464 biolink:NamedThing nephrogenic adenoma of the urethra A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpak2llvmy_mondo_relaxed.owl urethral nephrogenic adenoma|urethra nephrogenic adenoma|nephrogenic adenoma of urethra DOID:8109|NCIT:C7416|UMLS:C1336889 owl:Class HP:0011962 biolink:NamedThing Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023106 peter 2012-07-16T12:25:35Z human_phenotype owl:Class MONDO:0010974 biolink:NamedThing nephrotic syndrome, type 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, steroid-resistant, autosomal recessive|NPHS2|nephrotic syndrome, type 2|SRN1|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, idiopathic, steroid-resistant|NPHS2 nephrotic syndrome DOID:0080379|OMIM:600995|GARD:0003946 owl:Class HGNC:13394 biolink:NamedThing NPHS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001529 biolink:NamedThing brachiocephalic artery the short first aortic arch branch and divides into the right subclavian artery and the right common carotid artery tmpak2llvmy_mondo_relaxed.owl brachiocephalic trunk|innominate artery|truncus brachiocephalicus|innominate owl:Class UBERON:0036925 biolink:NamedThing wall of eyeball tmpak2llvmy_mondo_relaxed.owl eyeball wall owl:Class MONDO:0014678 biolink:NamedThing intellectual disability, autosomal dominant 39 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene. tmpak2llvmy_mondo_relaxed.owl chromosome 2P25.3 deletion syndrome|mental retardation, autosomal dominant 39|MYT1L autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 39|mental retardation, autosomal dominant type 39|autosomal dominant mental retardation 39|autosomal dominant intellectual disability 39|autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|autosomal dominant non-syndromic intellectual disability 39|MRD39|intellectual disability, autosomal dominant 39|chromosome 2P25.3 Duplication syndrome DOID:0070069|OMIM:616521|UMLS:C4225296 owl:Class HGNC:7623 biolink:NamedThing MYT1L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013222 biolink:NamedThing Miyoshi muscular dystrophy 3 tmpak2llvmy_mondo_relaxed.owl Miyoshi muscular dystrophy type 3|Miyoshi muscular dystrophy 3|MMD3|Miyoshi myopathy 3|distal anoctaminopathy UMLS:C2750076|DOID:0070201|ICD10:G71.0|MESH:C567645|OMIM:613319|Orphanet:399096 owl:Class HGNC:27337 biolink:NamedThing ANO5 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000278 biolink:NamedThing Retrognathia An abnormality in which the mandible is mislocalised posteriorly. tmpak2llvmy_mondo_relaxed.owl Weak jaw|Lower jaw retrognathia|Retrognathia of lower jaw|Receding lower jaw|Weak chin|Retrogenia|Receding mandible|Receding chin MSH:D063173|UMLS:C3494422 HP:0002954|HP:0002053 human_phenotype owl:Class MONDO:0016273 biolink:NamedThing malignant germ cell tumor of corpus uteri A malignant germ cell tumor that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl body of uterus malignant germ cell tumor|malignant germ cell tumor of the corpus uteri|germ cell cancer of the corpus uteri|germ cell cancer of corpus uteri ICD10:C54.0|ICD10:C54.2|UMLS:CN201062|Orphanet:213751|ICD10:C54.1|ICD10:C54.3|ICD10:C54.8 owl:Class GO:0000278 biolink:NamedThing mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. tmpak2llvmy_mondo_relaxed.owl mitosis owl:Class UBERON:0018243 biolink:NamedThing thymic artery A vein that supplies blood to the thymus. tmpak2llvmy_mondo_relaxed.owl thymic branch of internal thoracic artery|thymic arteries owl:Class OBO:CHR_9606-chr17p13 biolink:NamedThing chr17p13 (Human) tmpak2llvmy_mondo_relaxed.owl 10800000 0 hg38 owl:Class PATO:0000411 biolink:NamedThing circular A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. tmpak2llvmy_mondo_relaxed.owl rounded|round owl:Class MONDO:0004331 biolink:NamedThing bladder urachal adenocarcinoma A adenocarcinoma that involves the urachus. tmpak2llvmy_mondo_relaxed.owl urachus adenocarcinoma|urachal adenocarcinoma|bladder urachal adenocarcinoma|adenocarcinoma of the urachus MESH:C536474|DOID:7694|GARD:0010186|UMLS:C1511204|NCIT:C39843|ONCOTREE:UA owl:Class MONDO:0003702 biolink:NamedThing uterus intravascular leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma. tmpak2llvmy_mondo_relaxed.owl intravascular leiomyomatosis of the uterus|uterine corpus intravenous leiomyomatosis|intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of uterus|intravenous leiomyomatosis of the uterus|uterus intravenous leiomyomatosis NCIT:C5356|DOID:5915 owl:Class CHEBI:50268 biolink:NamedThing GABA modulator A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act. tmpak2llvmy_mondo_relaxed.owl GABA modulators owl:Class CL:0000030 biolink:NamedThing glioblast tmpak2llvmy_mondo_relaxed.owl FBbt:00005145 cell owl:Class GO:0015889 biolink:NamedThing cobalamin transport The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl vitamin B12 transport owl:Class MONDO:0012349 biolink:NamedThing spondylocostal dysostosis 3, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. tmpak2llvmy_mondo_relaxed.owl SCDO3|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3|spondylocostal dysostosis 3|LFNG autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 3, autosomal recessive GARD:0004973|UMLS:C1853296|OMIM:609813 owl:Class HGNC:6560 biolink:NamedThing LFNG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001686 biolink:NamedThing auditory ossicle bone One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl ossicle of inner ear|ossicular chain|ossicle of ear|auditory ossicle|middle ear bone|ear bone|ear ossicles|ear ossicle|middle ear ossicle|ossicle|auditory bone owl:Class MONDO:0014814 biolink:NamedThing advanced sleep phase syndrome 3 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. tmpak2llvmy_mondo_relaxed.owl advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome, familial, type 3|familial advanced sleep phase syndrome 3|advanced sleep phase syndrome type 3|advanced sleep phase syndrome, familial, 3|PER3 advanced sleep phase syndrome|FASPS3 UMLS:C4225169|DOID:0110013|OMIM:616882 owl:Class ENVO:01001054 biolink:NamedThing non-saline aerosol environment An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes. tmpak2llvmy_mondo_relaxed.owl owl:Class Ne9f662ffff3e44d9ad81faebe4ac38ed biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0002776 biolink:NamedThing antimicrobial peptide secretion The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003578 biolink:NamedThing pedal digit connective tissue A portion of connective tissue that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl connective tissue of digit of foot|connective tissue of toe|connective tissue of foot digit|connective tissue of digitus pedis|digitus pedis textus connectivus|foot digit connective tissue|hind limb digit connective tissue owl:Class CHEBI:43474 biolink:NamedThing hydrogenphosphate A phosphate ion that is the conjugate base of dihydrogenphosphate. tmpak2llvmy_mondo_relaxed.owl hydroxidotrioxidophosphate(2-)|[PO3(OH)](2-)|hydrogenphosphate|phosphate|HYDROGENPHOSPHATE ION|hydrogentetraoxophosphate(2-)|hydrogen(tetraoxidophosphate)(2-)|HPO4(2-)|hydrogen phosphate|INORGANIC PHOSPHATE GROUP|[P(OH)O3](2-)|hydrogentetraoxophosphate(V) owl:Class MONDO:0012084 biolink:NamedThing aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction. tmpak2llvmy_mondo_relaxed.owl DDC deficiency|aromatic L-amino acid decarboxylase deficiency|Dopa decarboxylase deficiency|aromatic amino acid decarboxylase deficiency|AADC deficiency|aromatic L-amino-acid decarboxylase deficiency|Aadc deficiency DOID:0090123|GARD:0000770|ICD9:270.8|ICD10:G24.8|OMIM:608643|GARD:770|MESH:C537437|NCIT:C142085|SCTID:237922009|Orphanet:35708 https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency owl:Class CL:2000081 biolink:NamedThing melanocyte of skin of face Any melanocyte of skin that is part of a skin of face. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T19:10:40Z cell owl:Class UBERON:1000021 biolink:NamedThing skin of face A zone of skin that is part of the face. tmpak2llvmy_mondo_relaxed.owl facial skin|face skin owl:Class CL:0000557 biolink:NamedThing granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. tmpak2llvmy_mondo_relaxed.owl colony forming unit granulocyte macrophage|granulocyte-macrophage progenitor|CFU-C , Colony forming unit in culture|granulocyte/monocyte precursor|granulocyte/monocyte progenitor|GMP|CFU-GM Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class PATO:0000627 biolink:NamedThing localized A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. tmpak2llvmy_mondo_relaxed.owl localised|focal owl:Class MONDO:0010008 biolink:NamedThing sarcosinemia Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. tmpak2llvmy_mondo_relaxed.owl sarcosinemia|SARDH deficiency|SARD deficiency|SARCOS|hypersarcosinemia|sarcosine dehydrogenase complex deficiency UMLS:C0268563|Orphanet:3129|SCTID:64852002|ICD9:270.8|MESH:C537236|GARD:0000158|OMIM:268900|ICD10:E72.5|MedDRA:10059299 https://rarediseases.info.nih.gov/diseases/158/sarcosinemia owl:Class Nef2bbe3776434cf3a05b29f8db4bc6f7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011756 biolink:NamedThing Senior-Loken syndrome 4 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. tmpak2llvmy_mondo_relaxed.owl SLSN4|NPHP4 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in NPHP4|SENIOR-Loken syndrome 4|Senior-Loken syndrome 4|Senior-Loken syndrome type 4 OMIM:606996|MESH:C537581|UMLS:C1846979 owl:Class HGNC:19104 biolink:NamedThing NPHP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014312 biolink:NamedThing auriculocondylar syndrome 3 tmpak2llvmy_mondo_relaxed.owl Auriculocondylar syndrome type 3|AURICULOCONDYLAR syndrome 3|ARCND3|Auriculocondylar syndrome 3 UMLS:C3810332|OMIM:615706 owl:Class MONDO:0015675 biolink:NamedThing distomatosis Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines. tmpak2llvmy_mondo_relaxed.owl fluke infection|distomiasis ICD9:121.9|GARD:0001891|SCTID:26089000|Orphanet:1685|ICD9:121.8 https://rarediseases.info.nih.gov/diseases/1891/distomatosis owl:Class MONDO:0024797 biolink:NamedThing adult brain stem neoplasm A brainstem neoplasm that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl neoplasm of adult brain stem|adult brainstem neoplasm|tumor of the adult brain stem|adult brainstem tumor|neoplasm of the adult brain stem|neoplasm of adult brainstem|adult brain stem tumor|tumor of the adult brainstem|brainstem neoplasm of adults|adult brain stem neoplasm|tumor of adult brainstem|neoplasm of the adult brainstem|tumor of adult brain stem NCIT:C5967|UMLS:C1332192 owl:Class OBO:CHR_9606-chr8p1 biolink:NamedThing chr8p1 (Human) tmpak2llvmy_mondo_relaxed.owl 45200000 29000000 hg38 owl:Class PATO:0002299 biolink:NamedThing tubular A cylindrical shape that is hollow. tmpak2llvmy_mondo_relaxed.owl tubulate|tube-shaped|tube like owl:Class HGNC:2188 biolink:NamedThing COL12A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013565 biolink:NamedThing Fanconi anemia complementation group G Fanconi anemia caused by mutations of the FANCG gene. tmpak2llvmy_mondo_relaxed.owl FANCG|Fanconi anemia complementation group G|Fanconi anemia complementation group type G|Fanconi anemia, complementation group G|Fanconi Anemia, complementation group type G EFO:0009046|OMIM:614082|NCIT:C125708|DOID:0111086 owl:Class HGNC:3588 biolink:NamedThing FANCG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009692 biolink:NamedThing lumen of pharyngotympanic tube A organ cavity that is part of a pharyngotympanic tube. tmpak2llvmy_mondo_relaxed.owl lumen of eustachian tube|lumen of auditory tube|pharyngotympanic tube lumen|auditory tube lumen owl:Class GO:0045907 biolink:NamedThing positive regulation of vasoconstriction Any process that activates or increases the frequency, rate or extent of vasoconstriction. tmpak2llvmy_mondo_relaxed.owl stimulation of vasoconstriction|activation of vasoconstriction|up-regulation of vasoconstriction|up regulation of vasoconstriction|upregulation of vasoconstriction owl:Class UBERON:0005874 biolink:NamedThing 3rd arch pharyngeal cleft A groove that is situated between the 3rd and 4th pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl 3rd arch groove ectoderm|3rd pharyngeal cleft|3rd pharyngeal groove ectoderm|3rd branchial cleft|3rd pharyngeal groove|3rd arch branchial groove|branchial groove of 3rd arch owl:Class N0fa4c806e29940f3a8fb55a23069b14b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014880 biolink:NamedThing Duane retraction syndrome 3 with or without deafness Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. tmpak2llvmy_mondo_relaxed.owl Duane retraction syndrome 3|Duane syndrome type 3|Duane retraction syndrome 3 with or without deafness|MAFB Duane retraction syndrome|DURS3|Duane retraction syndrome caused by mutation in MAFB UMLS:C4310752|OMIM:617041|GARD:0010691 https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3 owl:Class MONDO:0013568 biolink:NamedThing sick sinus syndrome 3, susceptibility to Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene. tmpak2llvmy_mondo_relaxed.owl sick sinus syndrome 3, susceptibility to|MYH6 familial sick sinus syndrome|SSS3|susceptibility to sick sinus syndrome 3|familial sick sinus syndrome caused by mutation in MYH6 OMIM:614090 owl:Class HGNC:7576 biolink:NamedThing MYH6 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:17272 biolink:NamedThing propionate The conjugate base of propionic acid; a key precursor in lipid biosynthesis. tmpak2llvmy_mondo_relaxed.owl metacetonate|ethylformate|propanate|carboxylatoethane|propanoate|CH3-CH2-COO(-)|methylacetate|propanoic acid, ion(1-)|ethanecarboxylate|propionate|EtCO2 anion|pseudoacetate owl:Class MONDO:0010504 biolink:NamedThing immunodeficiency 47 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 47|immunodeficiency and hepatopathy with or without neurologic features|IMD47|ATP6AP1 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in ATP6AP1|immunodeficiency 47|immunodeficiency 47; IMD47 UMLS:C4310819|OMIM:300972 owl:Class CL:0009033 biolink:NamedThing plasma cell of appendix A plasma cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendix plasma cell|plasma cell of vermiform appendix|plasma cell of appendix vermiformis owl:Class PATO:0001562 biolink:NamedThing decreased mass A mass which is lower than normal or average. tmpak2llvmy_mondo_relaxed.owl low mass|small mass owl:Class MONDO:0012719 biolink:NamedThing encephalopathy due to prosaposin deficiency Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. tmpak2llvmy_mondo_relaxed.owl combined prosaposin deficiency|combined saposin deficiency|PSAPD|combined Sap deficiency|combined SAP deficiency|prosaposin deficiency ICD10:E75.2|UMLS:C2673635|DOID:0111330|MESH:C567125|SCTID:720864008|UMLS:C4303785|OMIM:611721|Orphanet:139406|GARD:0012505 https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency owl:Class MONDO:0023249 biolink:NamedThing polyarticular juvenile rheumatoid arthritis tmpak2llvmy_mondo_relaxed.owl Juvenile polyarthritis rheumatoid factor negative|Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor positive SCTID:445479007|GARD:0010967|UMLS:C0311221 owl:Class HP:0000739 biolink:NamedThing Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. tmpak2llvmy_mondo_relaxed.owl Excessive, persistent worry and fear|Anxiety|Anxiousness|Anxiety disease UMLS:C4020884|MSH:D001007|UMLS:C0003467|SNOMEDCT_US:48694002 human_phenotype owl:Class MONDO:0007129 biolink:NamedThing tooth agenesis, selective, 1 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. tmpak2llvmy_mondo_relaxed.owl tooth agenesis, selective, 1|MSX1 tooth agenesis|hypodontia/oligodontia with orofacial cleft|STHAG1|tooth agenesis, familial|tooth agenesis caused by mutation in MSX1|second premolars and third molars, absence of|hypodontia/oligodontia 1|tooth agenesis, selective, type 1|tooth agenesis, selective, with orofacial cleft OMIM:106600 owl:Class HGNC:7391 biolink:NamedThing MSX1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004515 biolink:NamedThing smooth muscle tissue of bronchiole A portion of smooth muscle tissue that is part of a bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of lobular bronchiole owl:Class GO:0004423 biolink:NamedThing iduronate-2-sulfatase activity Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. tmpak2llvmy_mondo_relaxed.owl idurono-2-sulfatase activity|L-iduronosulfatase activity|iduronate sulfate sulfatase activity|L-iduronate 2-sulfate sulfatase activity|chondroitinsulfatase|iduronate sulfatase activity|L-idurono sulfate sulfatase activity|sulfo-L-iduronate sulfatase activity|iduronate-2-sulfate sulfatase activity|sulfoiduronate sulfohydrolase activity|2-sulfo-L-iduronate 2-sulfatase activity|iduronate-2-sulphatase activity|L-iduronate-2-sulfate 2-sulfohydrolase activity|iduronide-2-sulfate sulfatase activity owl:Class MONDO:0013395 biolink:NamedThing retinitis pigmentosa 4 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, rhodopsin-related|retinitis pigmentosa caused by mutation in RHO|RP 4|RHO retinitis pigmentosa|retinitis pigmentosa type 4|RP4|retinitis pigmentosa 4 OMIM:613731|HGNC:10012|GARD:0010405|UMLS:C3151001|ICD10:H35.5|MESH:C566706|DOID:0110372 https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4 owl:Class GO:0015849 biolink:NamedThing organic acid transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010186 biolink:NamedThing male urethral gland any of the numerous small mucous-secreting glands located in the wall of the penile urethra tmpak2llvmy_mondo_relaxed.owl gland of Littre|glandulae urethrales urethrae masculinae|male urethra gland|Littre's gland|urethral gland (male)|gland of male urethra owl:Class UBERON:0010891 biolink:NamedThing pectoral complex muscle A muscle of a pectoral girdle, pectoral fin or anterior limb. tmpak2llvmy_mondo_relaxed.owl muscle of upper limb|muscle of pectoral girdle and limb|upper limb muscle|pectoral girdle and fore limb muscles|muscle of pectoral girdle and wing owl:Class HGNC:17095 biolink:NamedThing LARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0005022 biolink:NamedThing vascular lymphangioblast Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. tmpak2llvmy_mondo_relaxed.owl parachordal lymphangioblast Ceri 2012-01-12T05:21:09Z cell owl:Class CL:1001593 biolink:NamedThing parathyroid glandular cell Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells. tmpak2llvmy_mondo_relaxed.owl parathyroid gland glandular cells|parathyroid gland glandular cell CALOHA:TS-1279 owl:Class MONDO:0013869 biolink:NamedThing adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. tmpak2llvmy_mondo_relaxed.owl adenine phosphoribosyltransferase deficiency|Dihydroxyadeninuria|2,8-dihydroxyadenine urolithiasis|2,8-dihydroxyadeninuria disease|APRTD|urolithiasis, 2,8-dihydroxyadenine|urolithiasis, Dha|nephrolithiasis, Dha|APRT deficiency NCIT:C121564|OMIM:614723|UMLS:C0268120|ICD10:E79.8|GARD:0000546|GARD:0010666|MESH:C538228|DOID:0060350|Orphanet:976|SCTID:124274002 https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria owl:Class HGNC:2852 biolink:NamedThing DGKE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005204 biolink:NamedThing larynx submucosa gland A gland that is part of a larynx submucosa [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl laryngeal submucosa gland owl:Class NCBITaxon:942 biolink:NamedThing Anaplasmataceae tmpak2llvmy_mondo_relaxed.owl PMID:11760958|GC_ID:11 ncbi_taxonomy owl:Class UBERON:5001466 biolink:NamedThing pedal digit plus metapodial segment A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. tmpak2llvmy_mondo_relaxed.owl pedal digit|pedal digit ray|pedal digit digitopodial subdivision|pedal digit ( phalanges plus metapodial) plus soft tissue owl:Class MONDO:0005984 biolink:NamedThing tinea pedis Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. tmpak2llvmy_mondo_relaxed.owl pes dermatophytosis|athlete's foot|dermatophytosis of pes|dermatophytosis of foot|ringworm of foot DOID:12403|SCTID:6020002|UMLS:C0040259|MESH:D014008|EFO:0007512|ICD10:B35.3|ICD9:110.4 owl:Class NCBITaxon:34390 biolink:NamedThing Epidermophyton tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013430 biolink:NamedThing Meier-Gorlin syndrome 3 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. tmpak2llvmy_mondo_relaxed.owl ORC6 Meier-Gorlin syndrome|Meier-GORLIN syndrome 3|Meier-Gorlin syndrome 3|Meier-Gorlin syndrome caused by mutation in ORC6|MGORS3|Meier-Gorlin syndrome type 3 DOID:0080514|OMIM:613803|UMLS:C3151113 owl:Class HGNC:17151 biolink:NamedThing ORC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013848 biolink:NamedThing dilated cardiomyopathy 2B Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. tmpak2llvmy_mondo_relaxed.owl GATAD1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 2B|CMD2B|dilated cardiomyopathy type 2B|dilated cardiomyopathy 2B|cardiomyopathy, dilated, type 2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1 DOID:0110441|ICD10:I42.0|UMLS:C3553409|OMIM:614672 owl:Class HGNC:29941 biolink:NamedThing GATAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:9001757 biolink:NamedThing exposure to antibacterial drug An exposure to antibacterial drug. tmpak2llvmy_mondo_relaxed.owl exposure to antibacterial drug owl:Class CHEBI:36047 biolink:NamedThing antibacterial drug A drug used to treat or prevent bacterial infections. tmpak2llvmy_mondo_relaxed.owl antibacterial drugs owl:Class UBERON:0011096 biolink:NamedThing lacrimal nerve The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl nervus lacrimalis owl:Class GO:0060294 biolink:NamedThing cilium movement involved in cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004405 biolink:NamedThing distal epiphysis of tibia A distal epiphysis that is part of a tibia [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal end of tibia|lower end of tibia owl:Class MONDO:0014711 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2W Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|Charcot-Marie-Tooth disease, axonal, type 2w|CMT2W|Charcot-Marie-Tooth neuropathy type 2W|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2W DOID:0110162|OMIM:616625|Orphanet:488333|UMLS:C4225265 owl:Class HGNC:4816 biolink:NamedThing HARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031981 biolink:NamedThing nuclear lumen The volume enclosed by the nuclear inner membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012680 biolink:NamedThing nephronophthisis 7 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis type 7|NPHP7|nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis 7|GLIS2 nephronophthisis (disease) OMIM:611498|UMLS:C1969092|MESH:C566930|DOID:0111116 owl:Class HGNC:29450 biolink:NamedThing GLIS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006075 biolink:NamedThing adrenal gland myelolipoma A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. tmpak2llvmy_mondo_relaxed.owl MYELOLIPOMA, benign|Myelolipoma|adrenal gland myelolipoma NCIT:C3736|ICDO:8870/0|EFO:1000074|SCTID:719049003|UMLS:C0206635|MESH:D018209 owl:Class UBERON:0010842 biolink:NamedThing calcaneum cartilage element A calcaneum endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl calcaneous cartilage element owl:Class MONDO:0001767 biolink:NamedThing stenosis of lacrimal punctum tmpak2llvmy_mondo_relaxed.owl DOID:13653|UMLS:C0155244|ICD9:375.52|ICD10:H04.56|SCTID:74783009 owl:Class UBERON:0010575 biolink:NamedThing manual digit 1 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl manual digit I phalanx pre-cartilage condensation|hand digit 1 phalanx pre-cartilage condensation|fore limb digit 1 phalanx pre-cartilage condensation owl:Class HGNC:7013 biolink:NamedThing MEOX1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p13.12 biolink:NamedThing chr19p13.12 (Human) tmpak2llvmy_mondo_relaxed.owl 16100000 13800000 hg38 owl:Class MONDO:0100446 biolink:NamedThing CNGB3 retinopathy A retinopathy caused by biallelic variants in the CNGB3 gene. tmpak2llvmy_mondo_relaxed.owl ACHM1, formerly|achromatopsia type 3|ACHM1 (formerly)|rod monochromacy 1|achromatopsia caused by mutation in CNGB3|achromatopsia with myopia|CNGB3 retinopathy|Rod monochromatism 1 (formerly)|Rod monochromacy 1 (formerly)|achromatopsia 3|ACHM3|total colorblindness with myopia|RMCH1 (formerly)|ACHM1|rod monochromacy 1, formerly|rod monochromatism 1, formerly|CNGB3 achromatopsia|rod monochromatism 1|RMCH1 owl:Class HGNC:2153 biolink:NamedThing CNGB3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001222 biolink:NamedThing right ureter An ureter that is part of a right side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0040673 biolink:NamedThing malignant peritoneal germ cell tumor A malignant germ cell tumor that affects the peritoneum. tmpak2llvmy_mondo_relaxed.owl malignant peritoneal germ cell tumor UMLS:C4526657|NCIT:C136410 owl:Class MONDO:0000344 biolink:NamedThing Ross river fever A disease caused by infection with Ross River virus. tmpak2llvmy_mondo_relaxed.owl Ross River virus disease|Ross River virus infectious disease|Ross River virus disease or disorder|Ross River virus caused disease or disorder SCTID:602001|DOID:0050518|UMLS:C0035865 owl:Class NCBITaxon:11029 biolink:NamedThing Ross River virus tmpak2llvmy_mondo_relaxed.owl RRV GC_ID:1 ncbi_taxonomy owl:Class N1bf80fbd4ba54ab8ba5ea4ec533efabd biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0003712 biolink:NamedThing cavernous sinus The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica. tmpak2llvmy_mondo_relaxed.owl parasellar syndrome|sinus cavernosus|cavernus sinus vein|cavernous sinus syndrome|cavernous sinuses|cavernous owl:Class UBERON:0014530 biolink:NamedThing white matter lamina of neuraxis tmpak2llvmy_mondo_relaxed.owl neuraxis lamina|lamina of neuraxis owl:Class MONDO:0056814 biolink:NamedThing hormone-resistant prostate carcinoma Prostate carcinoma that does not respond to hormone therapy. tmpak2llvmy_mondo_relaxed.owl hormone-resistant prostate carcinoma|hormone-resistant prostate cancer NCIT:C114933 owl:Class MONDO:0060486 biolink:NamedThing arthrogryposis multiplex congenita 1, neurogenic, with myelin defect tmpak2llvmy_mondo_relaxed.owl AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect OMIM:617468 owl:Class HGNC:18712 biolink:NamedThing LGI4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004743 biolink:NamedThing pyruvate kinase activity Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate. tmpak2llvmy_mondo_relaxed.owl phosphoenol transphosphorylase activity|ATP:pyruvate 2-O-phosphotransferase activity|phosphoenolpyruvate kinase activity owl:Class CHEBI:60466 biolink:NamedThing peptide zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. tmpak2llvmy_mondo_relaxed.owl peptide zwitterions owl:Class UBERON:0006717 biolink:NamedThing autopodial skeleton The collection of all skeletal elements in an autopodium region. tmpak2llvmy_mondo_relaxed.owl skeleton of autopod|autopod skeleton|skeletal parts of autopod|autopodium|autopodial skeleton owl:Class CL:0000604 biolink:NamedThing retinal rod cell One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision. tmpak2llvmy_mondo_relaxed.owl FMA:67747|BTO:0001024|CALOHA:TS-0870 cell owl:Class UBERON:0007475 biolink:NamedThing matrix-based tissue A tissue whose predominant feature is extracellular matrix which may or may not be highly hydrated or calcified. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013876 biolink:NamedThing basal cell carcinoma, susceptibility to, 7 Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpak2llvmy_mondo_relaxed.owl BCC7|susceptibility to basal cell carcinoma 7|basal cell carcinoma, susceptibility to, type 7|basal cell carcinoma, susceptibility to, 7|skin basal cell carcinoma caused by mutation in TP53|TP53 skin basal cell carcinoma OMIM:614740 owl:Class MONDO:0010385 biolink:NamedThing X-linked lymphoproliferative disease due to XIAP deficiency A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. tmpak2llvmy_mondo_relaxed.owl X-linked lymphoproliferative disease due to XIAP deficiency|XIAP deficiency|XIAP-related lymphoproliferative disease, X-linked|Xiap deficiency|lymphoproliferative syndrome, X-linked, type 2|XIAP deficiency/XLPs|XLP2|X-linked lymphoproliferative syndrome type 2|lymphoproliferative syndrome, X-linked, 2 OMIM:300635|Orphanet:538934|ICD10:D82.3|DOID:0060706|NCIT:C126295|UMLS:C1845076|MESH:C564469|GARD:0010916 https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 owl:Class HGNC:592 biolink:NamedThing XIAP tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005740 biolink:NamedThing mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010408 biolink:NamedThing syndactyly-telecanthus-anogenital and renal malformations syndrome This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. tmpak2llvmy_mondo_relaxed.owl Star syndrome|toe syndactyly, telecanthus, anogenital and renal malformations|syndactyly, telecanthus, anogenital and renal malformations|STAR syndrome|toe syndactyly, telecanthus, and anogenital and renal malformations|STAR|syndactyly-telecanthus-anogenital and renal malformations syndrome|syndactyly with renal and anogenital malformations UMLS:C2678045|Orphanet:140952|GARD:0010295|MESH:C567475|ICD10:Q87.8|SCTID:723581006|OMIM:300707 owl:Class HGNC:28434 biolink:NamedThing CCNQ tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015485 biolink:NamedThing choledocho-duodenal junction hat part of the duodenal wall traversed by the ductus choledochus, ductus pancreaticus, and ampulla. tmpak2llvmy_mondo_relaxed.owl choledochoduodenal junction owl:Class MONDO:0004726 biolink:NamedThing liver inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpak2llvmy_mondo_relaxed.owl inflammatory pseudotumor of liver|hepatic inflammatory myofibroblastic tumor|liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver|liver inflammatory pseudotumor SCTID:717329009|DOID:918|UMLS:C1333967|EFO:1000324|NCIT:C5858 owl:Class UBERON:0012475 biolink:NamedThing skeleton of pectoral complex The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. tmpak2llvmy_mondo_relaxed.owl set of bones of upper limb|ossa membri superioris|skeleton of anterior limb/fin and girdle|bones of upper limb|pectoral complex skeleton|upper limb skeleton owl:Class GO:1905124 biolink:NamedThing negative regulation of glucosylceramidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity. tmpak2llvmy_mondo_relaxed.owl down regulation of beta-D-glucocerebrosidase activity|down-regulation of GlcCer-beta-glucosidase activity|downregulation of psychosine hydrolase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of glucocerebrosidase activity|inhibition of glucosylceramidase activity|down-regulation of beta-glucocerebrosidase activity|downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|downregulation of glucosphingosine glucosylhydrolase activity|downregulation of glucosylceramidase activity|negative regulation of glucosylcerebrosidase activity|down regulation of beta-glucosylceramidase activity|down regulation of glucosylcerebrosidase activity|negative regulation of beta-glucosylceramidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|down-regulation of psychosine hydrolase activity|down regulation of GlcCer-beta-glucosidase activity|inhibition of psychosine hydrolase activity|downregulation of ceramide glucosidase activity|downregulation of acid beta-glucosidase activity|down-regulation of ceramide glucosidase activity|inhibition of acid beta-glucosidase activity|down-regulation of acid beta-glucosidase activity|inhibition of glucosylcerebrosidase activity|down regulation of ceramide glucosidase activity|down regulation of glucosylceramidase activity|down-regulation of glucosylcerebrosidase activity|negative regulation of beta-D-glucocerebrosidase activity|downregulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-glucosidase activity|negative regulation of GCase activity|downregulation of glucosylcerebrosidase activity|downregulation of beta-glucocerebrosidase activity|downregulation of beta-D-glucocerebrosidase activity|inhibition of glucosphingosine glucosylhydrolase activity|down-regulation of glucosylceramidase activity|down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down-regulation of glucocerebrosidase activity|inhibition of glucocerebrosidase activity|inhibition of beta-D-glucocerebrosidase activity|inhibition of beta-glucocerebrosidase activity|downregulation of glucocerebrosidase activity|down regulation of acid beta-glucosidase activity|down-regulation of beta-D-glucocerebrosidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down-regulation of beta-glucosylceramidase activity|negative regulation of glucocerebrosidase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of psychosine hydrolase activity|inhibition of GlcCer-beta-glucosidase activity|inhibition of ceramide glucosidase activity|inhibition of beta-glucosylceramidase activity|negative regulation of ceramide glucosidase activity|negative regulation of GlcCer-beta-glucosidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of beta-glucocerebrosidase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of glucosphingosine glucosylhydrolase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|negative regulation of psychosine hydrolase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of beta-glucocerebrosidase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|downregulation of GlcCer-beta-glucosidase activity|negative regulation of acid beta-glucosidase activity owl:Class GO:0004348 biolink:NamedThing glucosylceramidase activity Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. tmpak2llvmy_mondo_relaxed.owl beta-glucocerebrosidase activity|acid beta-glucosidase activity|ceramide glucosidase activity|beta-D-glucocerebrosidase activity|glucosylcerebrosidase activity|glucocerebrosidase activity|beta-glucosylceramidase activity|glucosylsphingosine beta-D-glucosidase activity|psychosine hydrolase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|GlcCer-beta-glucosidase activity|glucosylsphingosine beta-glucosidase activity|glucosphingosine glucosylhydrolase activity owl:Class HP:0003202 biolink:NamedThing Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). tmpak2llvmy_mondo_relaxed.owl Muscle hypotrophy|Neurogenic muscle atrophy, especially in the lower limbs|Muscle atrophy, neurogenic|Neurogenic muscle atrophy|Amyotrophy involving the extremities|Neurogenic muscular atrophy|Muscular atrophy|Muscle atrophy|Muscle degeneration|Amyotrophy|Muscle wasting MSH:D009133|UMLS:C1843479|UMLS:C0270948|UMLS:C0234958|SNOMEDCT_US:74035001|UMLS:C0541794 HP:0006995|HP:0001299|HP:0007171|HP:0003702|HP:0003671|HP:0003545|HP:0009048|HP:0009010|HP:0007356|HP:0100868|HP:0003746 human_phenotype owl:Class NCBITaxon:1513 biolink:NamedThing Clostridium tetani tmpak2llvmy_mondo_relaxed.owl Bacillus tetani GC_ID:11 ncbi_taxonomy owl:Class GO:0004415 biolink:NamedThing hyalurononglucosaminidase activity Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. tmpak2llvmy_mondo_relaxed.owl hyaluronate 4-glycanohydrolase activity|hyaluronidase activity|chondroitinase I activity|chondroitinase activity|hyaluronoglucosaminidase activity|hyaluronoglucosidase activity owl:Class OBO:CP_0000035 biolink:NamedThing polychromatophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. tmpak2llvmy_mondo_relaxed.owl tmeehan 2009-12-28T04:25:23Z cell owl:Class HGNC:3255 biolink:NamedThing EIF2AK3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34621 biolink:NamedThing Dermacentor variabilis tmpak2llvmy_mondo_relaxed.owl American dog tick GC_ID:1 ncbi_taxonomy owl:Class HGNC:9990 biolink:NamedThing RGR tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18145 biolink:NamedThing PHF6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010227 biolink:NamedThing future cardiac atrium Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. tmpak2llvmy_mondo_relaxed.owl presumptive atrium heart tube|primordial atrium|primordial cardiac atrium owl:Class UBERON:0005688 biolink:NamedThing lens vesicle cavity An anatomical cavity that is part of a lens vesicle. tmpak2llvmy_mondo_relaxed.owl cavity of lens vesicle|cavity of lens|lens cavity owl:Class UBERON:0005426 biolink:NamedThing lens vesicle Portion of tissue that gives rise to the lens. tmpak2llvmy_mondo_relaxed.owl immature lens|lens mass|solid lens vesicle|presumptive lens|hollow lens vesicle owl:Class HGNC:26938 biolink:NamedThing HIKESHI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017326 biolink:NamedThing infective dermatitis associated with HTLV-1 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. tmpak2llvmy_mondo_relaxed.owl infective dermatitis associated with human T-lymphotropic virus type 1|IDH|IDH Gene family|infective dermatitis associated with human T-lymphotropic virus type I|isocitrate dehydrogenase Gene family NCIT:C129260|ICD10:L30.3|UMLS:CN202966|Orphanet:289347 owl:Class MONDO:0014924 biolink:NamedThing epilepsy, familial focal, with variable foci 2 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene. tmpak2llvmy_mondo_relaxed.owl FFEVF2|NPRL2 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2|epilepsy, familial focal, with variable foci type 2|epilepsy, familial focal, with variable foci 2; FFEVF2 UMLS:C4310709|OMIM:617116 owl:Class HGNC:24969 biolink:NamedThing NPRL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100368 biolink:NamedThing recessive RPE65 retinopathy A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis 2|retinitis pigmentosa caused by mutation in RPE65|Leber congenital amaurosis type 2|amaurosis congenita of Leber II|RP20|RPE65 retinitis pigmentosa|RPE65 Leber congenital amaurosis|LCA2|amaurosis congenita of Leber 2|retinitis pigmentosa 20|Leber congenital amaurosis caused by mutation in RPE65|amaurosis congenita of Leber, type 2 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0001065 biolink:NamedThing supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. tmpak2llvmy_mondo_relaxed.owl postpartum maternal hypotension syndrome|antepartum maternal hypotension syndrome|maternal hypotension syndrome HP:0008071|ICD9:669.20|DOID:10556|SCTID:88887003 owl:Class HP:0008071 biolink:NamedThing Maternal hypertension Increased blood pressure during a pregnancy. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:288250001|UMLS:C0565599 human_phenotype owl:Class CHEBI:77425 biolink:NamedThing EC 1.1.1.188 (prostaglandin-F synthase) inhibitor An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188). tmpak2llvmy_mondo_relaxed.owl synthetase, prostaglandin F2alpha inhibitor|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|prostaglandin-D2 11-reductase inhibitors|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGF synthetase inhibitor|PGD2 11-ketoreductase inhibitor|prostaglandin F synthetase inhibitor|EC 1.1.1.188 inhibitors|prostaglandin F synthase inhibitor|prostaglandin F synthase inhibitors|PGF2alpha synthetase inhibitor|synthetase, prostaglandin F2alpha inhibitors|prostaglandin 11-ketoreductase inhibitors|PGF synthetase inhibitors|prostaglandin 11-keto reductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|PGD2 11-ketoreductase inhibitors|PGF2alpha synthetase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|prostaglandin D2-ketoreductase inhibitor|EC 1.1.1.188 inhibitor|prostaglandin 11-ketoreductase inhibitor|prostaglandin-D2 11-reductase inhibitor|prostaglandin 11-keto reductase inhibitor|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin F synthetase inhibitors owl:Class GO:0032057 biolink:NamedThing negative regulation of translational initiation in response to stress Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl inhibition of translation initiation in response to stress|down-regulation of translation initiation in response to stress|downregulation of translation initiation in response to stress|down regulation of translation initiation in response to stress owl:Class MONDO:0014572 biolink:NamedThing Lichtenstein-Knorr syndrome tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 19|progressive autosomal recessive ataxia-deafness syndrome|SCAR19|Lichtenstein-Knorr syndrome|autosomal recessive spinocerebellar ataxia type 19|autosomal recessive spinocerebellar ataxia 19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|LIKNS Orphanet:448251|UMLS:C4225383|DOID:0080065|OMIM:616291|ICD10:G11.1 owl:Class HGNC:11071 biolink:NamedThing SLC9A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001458 biolink:NamedThing ulnar nerve lesion A peripheral nerve lesion that involves the ulnar nerve. tmpak2llvmy_mondo_relaxed.owl ulnar nerve peripheral nerve lesion|peripheral nerve lesion of ulnar nerve|lesion of ulnar nerve ICD10:G56.20|SCTID:367475009|UMLS:C1288279|ICD9:354.2|ICD10:G56.2|DOID:12168 Editor note: todo DP for lesions owl:Class MONDO:0017642 biolink:NamedThing intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:3067|ICD10:Q87.8|UMLS:CN227166 owl:Class GO:0097447 biolink:NamedThing dendritic tree The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020533 biolink:NamedThing streptobacillary rat-bite fever Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. tmpak2llvmy_mondo_relaxed.owl streptobacillary rat-bite fever|Streptobacillosis|Haverhill fever|Streptobacillary fever ICD9:026.1|SCTID:52138004|Orphanet:99905|ICD10:A25.1|UMLS:C0152063|UMLS:CN207435|DOID:13238 owl:Class NCBITaxon:34105 biolink:NamedThing Streptobacillus moniliformis tmpak2llvmy_mondo_relaxed.owl Actinomyces muris|Haverhillia moniliformis|Proactinomyces muris|Actinomyces muris ratti|Asterococcus muris|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955|Streptothrix muris ratti|Nocardia muris|Haverhillia multiformis PMID:25858245|PMID:24912824|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006282 biolink:NamedThing lymphangiosarcoma A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl lymphangiosarcoma of Stewart and Treves|malignant lymphangioendothelioma|lymphangioendothelial sarcoma|lymphangiosarcoma, malignant|lymphangiosarcoma|Stewart-Treves syndrome EFO:1000339|UMLS:C0024224|ICDO:9170/3|SCTID:403986008|MESH:D008204|ICD9:171.9|DOID:2689|NCIT:C3205 owl:Class MONDO:0013749 biolink:NamedThing ventricular septal defect 3 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. tmpak2llvmy_mondo_relaxed.owl NKX2-5 ventricular septal defect (disease)|ventricular septal defect 3|ventricular septal defect (disease) caused by mutation in NKX2-5|ventricular septal defect type 3|VSD3 OMIM:614432|UMLS:C3280785 owl:Class HGNC:2488 biolink:NamedThing NKX2-5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013434 biolink:NamedThing primary ciliary dyskinesia 14 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. tmpak2llvmy_mondo_relaxed.owl CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14, with or without situs inversus|ciliary dyskinesia, primary, 14|primary ciliary dyskinesia caused by mutation in CCDC39|primary ciliary dyskinesia 14|primary ciliary dyskinesia type 14|CILD14|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia 14 with or without situs inversus OMIM:613807|ICD10:Q34.8|DOID:0110598|UMLS:C3151136 owl:Class HGNC:25244 biolink:NamedThing CCDC39 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002016 biolink:NamedThing sedimentary rock A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004273 biolink:NamedThing cartilaginous joint suture A cranial suture that is part of a cartilaginous joint [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cranial sutures of articulatio cartilaginea|articulatio cartilaginea suture of cranium|cartilaginous joint cranial sutures|cranium suture of articulatio cartilaginea|cranial sutures set of articulatio cartilaginea|cranial sutures of cartilaginous joint|cartilaginous joint cranium suture|suture of cranium of cartilaginous joint|cranial suture of cartilaginous joint|cranium suture of cartilaginous joint|suture of cranium of articulatio cartilaginea|cartilaginous joint cranial suture|articulatio cartilaginea cranium suture|articulatio cartilaginea cranial sutures|cartilaginous joint cranial sutures set|cartilaginous joint suture of cranium|articulatio cartilaginea cranial sutures set|articulatio cartilaginea cranial suture|cranial suture of articulatio cartilaginea|cranial sutures set of cartilaginous joint owl:Class UBERON:0036073 biolink:NamedThing respiratory primordium mesenchyme tmpak2llvmy_mondo_relaxed.owl respiratory primordium associated mesenchyme owl:Class MONDO:0012962 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 2 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. tmpak2llvmy_mondo_relaxed.owl proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2|end-stage renal disease, diabetic, susceptibility to|EPO microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in EPO|MVCD2|microvascular complications of diabetes, susceptibility to, type 2 OMIM:612623 owl:Class HGNC:3415 biolink:NamedThing EPO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022932 biolink:NamedThing Davenport-Donlan syndrome An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl Davenport Donlan syndrome|dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis GARD:0001672|Orphanet:3215|UMLS:C2931076|MESH:C535988 Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579 https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome owl:Class HP:0002901 biolink:NamedThing Hypocalcemia An abnormally decreased calcium concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Hypocalcaemia|Low blood calcium levels SNOMEDCT_US:5291005|MSH:D006996|UMLS:C0020598 human_phenotype owl:Class HGNC:4431 biolink:NamedThing GOSR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013932 biolink:NamedThing peroxisome biogenesis disorder 5A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group F|peroxisome biogenesis disorder, complementation group 10|peroxisome biogenesis disorder 5A (Zellweger)|peroxisome biogenesis disorder, complementation group 5|PBD5A DOID:0080480|NCIT:C155756|UMLS:C3553940|OMIM:614866 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0014391 biolink:NamedThing palmar/plantar sweat gland A sweat gland that is part of the skin of the palmar part of the manus or plantar part of the pes tmpak2llvmy_mondo_relaxed.owl sweat gland of palmar part of manus|palm/sole sweat gland|palmar eccrine sweat gland|palm sweat gland|sweat gland of palmar/plant part of autopod|palmar/plantar eccrine sweat gland owl:Class UBERON:0008837 biolink:NamedThing palmar/plantar part of autopod tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012585 biolink:NamedThing coronary heart disease, susceptibility to, 7 Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene. tmpak2llvmy_mondo_relaxed.owl CD36 coronary artery disease|coronary artery disease caused by mutation in CD36|CHDS7|susceptibility to coronary heart disease 7|coronary heart disease, susceptibility to, 7|coronary heart disease, susceptibility to, type 7 OMIM:610938 owl:Class HGNC:1663 biolink:NamedThing CD36 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013186 biolink:NamedThing Noonan syndrome 6 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. tmpak2llvmy_mondo_relaxed.owl NRAS Noonan syndrome|NRAS gene related Noonan syndrome|Noonan syndrome 6|Noonan syndrome caused by mutation in NRAS|Noonan syndrome type 6|NS6 OMIM:613224|DOID:0060584|UMLS:C2750732|MESH:C548084|GARD:0010701 https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 owl:Class MONDO:0009143 biolink:NamedThing Meier-Gorlin syndrome 1 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. tmpak2llvmy_mondo_relaxed.owl Meier-GORLIN syndrome 1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 1|Meier-Gorlin syndrome|MGORS1|Meier-Gorlin syndrome 1|microtia, absent patellae, micrognathia syndrome|Meier-Gorlin syndrome caused by mutation in ORC1|Ear, patella, short stature syndrome OMIM:224690|SCTID:703508009|DOID:0080512|ICD9:759.89|UMLS:CN030358 owl:Class HGNC:8487 biolink:NamedThing ORC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013146 biolink:NamedThing Brugada syndrome 7 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. tmpak2llvmy_mondo_relaxed.owl Brugada syndrome caused by mutation in SCN3B|SCN3B Brugada syndrome|BRGDA7|atrial fibrillation, familial, 16|Brugada syndrome type 7|Brugada syndrome 7 OMIM:613120|ICD10:I49.8|DOID:0110224|MESH:C567734|UMLS:C2751088 owl:Class HGNC:20665 biolink:NamedThing SCN3B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11219 biolink:NamedThing SPARC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012831 biolink:NamedThing inflammatory bowel disease 13 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 13|IBD13|inflammatory bowel disease 13|ABCB1 inflammatory bowel disease|inflammatory bowel disease caused by mutation in ABCB1 MESH:C567384|UMLS:C2677101|OMIM:612244|DOID:0110893 owl:Class HGNC:40 biolink:NamedThing ABCB1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006071 biolink:NamedThing glycerol metabolic process The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. tmpak2llvmy_mondo_relaxed.owl glycerol metabolism owl:Class ENVO:01000293 biolink:NamedThing ice mass A mass of water ice. tmpak2llvmy_mondo_relaxed.owl ice accumulation|accumulation of ice owl:Class UBERON:0007391 biolink:NamedThing pelvic appendage cartilage tissue A cartilage tissue that is part of a pelvic appendage. tmpak2llvmy_mondo_relaxed.owl pelvic fin cartilage owl:Class PATO:0000499 biolink:NamedThing decreased duration A duration quality of a process which is relatively low. tmpak2llvmy_mondo_relaxed.owl fast time|shortened period|low period|decreased time|decreased period owl:Class CHEBI:33284 biolink:NamedThing nutrient A nutrient is a food component that an organism uses to survive and grow. tmpak2llvmy_mondo_relaxed.owl nutrients owl:Class UBERON:0003894 biolink:NamedThing liver primordium A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. tmpak2llvmy_mondo_relaxed.owl primordium of the liver|liver bud|embryological hepatic plate|liver endoderm|hepatic plate owl:Class MONDO:0018108 biolink:NamedThing idiopathic disseminated cytomegalovirus infection tmpak2llvmy_mondo_relaxed.owl idiopathic disseminated CMV infection UMLS:CN204469|Orphanet:35062|ICD10:B25.8 owl:Class MONDO:0004616 biolink:NamedThing herpetic whitlow A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. tmpak2llvmy_mondo_relaxed.owl Simplexvirus paronychia (disease)|herpetic felon|Simplexvirus caused paronychia (disease) SCTID:43891009|UMLS:C0153042|ICD9:054.6|DOID:8607|NCIT:C128402 owl:Class NCBITaxon:10294 biolink:NamedThing Simplexvirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014891 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 4 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. tmpak2llvmy_mondo_relaxed.owl hyperuricemic nephropathy, familial juvenile, 4|SEC61A1-related autosomal dominant tubulointerstitial kidney disease|HNFJ4|hyperuricemic nephropathy, familial juvenile, type 4|ADTKD-SEC61A1|hyperuricemic NEPHROPATHY, familial juvenile, 4|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|SEC61A1 familial juvenile hyperuricemic nephropathy OMIM:617056|UMLS:C4310741 owl:Class HGNC:18276 biolink:NamedThing SEC61A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009745 biolink:NamedThing neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpak2llvmy_mondo_relaxed.owl CLN5 disease|CLN5 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis type 5|neuronal ceroid lipofuscinosis Finnish variant|CLN5 disease, adult|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|CLN5 disease, juvenile|neuronal ceroid lipofuscinosis caused by mutation in CLN5|CLN5|CLN5 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 5|Finnish Vlincl|neuronal ceroid lipofuscinosis 5 variable age of onset|ceroid lipofuscinosis, neuronal, 5 MESH:C575534|ICD10:E75.4|DOID:0110728|Orphanet:228360|OMIM:256731|GARD:0001223 https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 owl:Class MONDO:0021573 biolink:NamedThing oocyte maturation defect 2 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. tmpak2llvmy_mondo_relaxed.owl TUBB8 inherited oocyte maturation defect|inherited oocyte maturation defect caused by mutation in TUBB8|oocyte maturation defect 2|OOMD2 UMLS:C4225210|OMIM:616780 owl:Class CHEBI:50691 biolink:NamedThing abortifacient A chemical substance that interrupts pregnancy after implantation. tmpak2llvmy_mondo_relaxed.owl abortifacient drug|abortifacient agent|abortifacients|abortifacient agents|abortifacient drugs owl:Class CHEBI:24261 biolink:NamedThing glucocorticoid Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpak2llvmy_mondo_relaxed.owl glucocorticoids owl:Class PATO:0001407 biolink:NamedThing mononucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003374 biolink:NamedThing laryngeal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl laryngeal leiomyosarcoma|leiomyosarcoma of larynx|leiomyosarcoma of the larynx|larynx leiomyosarcoma UMLS:C1334371|DOID:5288|NCIT:C6022 owl:Class MONDO:0010949 biolink:NamedThing Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. tmpak2llvmy_mondo_relaxed.owl hereditary motor and sensory neuropathy 2B|peripheral sensory neuropathy, autosomal dominant (PSN)|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|Charcot-Marie-Tooth neuropathy, type 2B|hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|RAB7A Charcot-Marie-Tooth disease type 2|HMSN2B|HMSN IIB|Charcot-Marie-Tooth disease, axonal, type 2B|CMT2B|hereditary motor and sensory nueropathy IIB|Charcot Marie Tooth disease type 2B|CMT 2B|Charcot-Marie-Tooth neuropathy type 2B ICD10:G60.0|GARD:0009192|DOID:0110159|Orphanet:99936|MESH:C537989|UMLS:C1833219|SCTID:717008005|OMIM:600882 https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b owl:Class HGNC:9788 biolink:NamedThing RAB7A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21014 biolink:NamedThing ANTXR1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0033844 biolink:NamedThing galactose-6-sulfurylase activity Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. tmpak2llvmy_mondo_relaxed.owl galactose 6-sulfatase activity|galactose-6-sulfatase activity|D-galactose-6-sulfate:alkyltransferase (cyclizing) activity|porphyran sulfatase activity owl:Class HGNC:12926 biolink:NamedThing ZNF141 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014684 biolink:NamedThing combined oxidative phosphorylation defect type 26 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene. tmpak2llvmy_mondo_relaxed.owl COXPD26|combined oxidative phosphorylation deficiency 26|combined oxidative phosphorylation deficiency type 26|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|TRMT5 combined oxidative phosphorylation deficiency OMIM:616539|DOID:0111490|EFO:0009036|Orphanet:477684|UMLS:C4225290 owl:Class MONDO:0006234 biolink:NamedThing grade III prostatic intraepithelial neoplasia High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma in situ of the prostate|carcinoma in situ of prostate|grade III pin|carcinoma in situ of prostate gland|grade 3 pin|adenocarcinoma in situ of prostate|pin III|prostate adenocarcinoma in situ|stage 0 prostate gland carcinoma|prostate carcinoma in situ|grade 3 prostatic intraepithelial neoplasia|prostate gland in situ carcinoma|prostate gland carcinoma in situ SCTID:92691004|NCIT:C3642|DOID:8634|ICD10:D07.5|EFO:1000283|ICD9:233.4|UMLS:C0154088 owl:Class GO:0001569 biolink:NamedThing branching involved in blood vessel morphogenesis The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. tmpak2llvmy_mondo_relaxed.owl patterning of blood vessels owl:Class MONDO:0006760 biolink:NamedThing fetal erythroblastosis A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. tmpak2llvmy_mondo_relaxed.owl hemolytic disease of the fetus or newborn|isoimmune hemolytic disease of the newborn|EF - erythroblastosis foetalis|rhesus isoimmunisation of the newborn|haemolytic disease due to rhesus isoimmunisation|HDFN|hemolytic disease of the newborn|erythroblastosis fetalis ICD10:P55|ICD9:773|DOID:1098|UMLS:C0014761|MESH:D004899|ICD10:P55.9|ICD9:773.2|NCIT:C101304|SCTID:387705004|EFO:1000937 owl:Class MONDO:0005634 biolink:NamedThing acute hemorrhagic conjunctivitis Acute conjunctivitis that is characterized by bleeding into the conjunctiva. tmpak2llvmy_mondo_relaxed.owl Apollo disease|epidemic hemorrhagic conjunctivitis|viral conjunctivitis DOID:11227|MESH:D003232|EFO:0007131|ICD9:077.4|UMLS:C0009765|SCTID:398264003|NCIT:C34505 owl:Class HP:0000613 biolink:NamedThing Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. tmpak2llvmy_mondo_relaxed.owl Photodysphoria|Light hypersensitivity|Extreme sensitivity of the eyes to light MSH:D020795|SNOMEDCT_US:246622003|SNOMEDCT_US:409668002|UMLS:C4020887|UMLS:C0085636 Note that the term photodysphoria is used to describe extreme photophobia. human_phenotype owl:Class MONDO:0001285 biolink:NamedThing endometriosis of pelvic peritoneum tmpak2llvmy_mondo_relaxed.owl UMLS:C0156345|ICD9:617.3|SCTID:198251001|DOID:11429|ICD10:N80.3 owl:Class MONDO:0007740 biolink:NamedThing Wagner disease Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. tmpak2llvmy_mondo_relaxed.owl Wagner vitreoretinal Degeneration|Wagner vitreoretinopathy|vitreoretinal degeneration, Wagner type|Wagner syndrome|Wagner disease|Wagner syndrome 1|hyaloideoretinal Degeneration of Wagner|Wagner syndrome type 1|VCAN-related vitreoretinopathy|WGN1|dominant hyaloideoretinal dystrophy of Wagner|Wagner disease (formerly)|WGVRP|ERVR|erosive vitreoretinopathy MedDRA:10063383|ICD10:H35.5|SCTID:232064001|UMLS:C1840452|OMIM:143200|Orphanet:898|MESH:C536075|GARD:0007871 owl:Class HGNC:2464 biolink:NamedThing VCAN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013169 biolink:NamedThing chromosome 5p13 duplication syndrome 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). tmpak2llvmy_mondo_relaxed.owl dup(5)(p13)|chromosome 5p13 duplication syndrome|5p13 microduplication syndrome|trisomy 5p13 MESH:C567717|OMIM:613174|ICD10:Q92.3|UMLS:C2750805|DOID:0060460|Orphanet:329802 owl:Class OBO:CHR_9606-chr5p13 biolink:NamedThing chr5p13 (Human) tmpak2llvmy_mondo_relaxed.owl 42500000 28900000 hg38 owl:Class UBERON:0005498 biolink:NamedThing primitive heart tube Multi-tissue structure that arises from the heart rudiment and will become the heart tube. tmpak2llvmy_mondo_relaxed.owl early primitive heart tube|primitive heart tube owl:Class HGNC:10549 biolink:NamedThing ATXN10 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03510019 biolink:NamedThing cattle as consumer tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:9913 biolink:NamedThing Bos taurus Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*. tmpak2llvmy_mondo_relaxed.owl cow|Bos taurus Linnaeus, 1758|dairy cow|domestic cattle|cattle|Bos primigenius taurus|bovine|Bos bovis|domestic cow GC_ID:1 NCBITaxon:272461 ncbi_taxonomy owl:Class OBO:CHR_9606-chrXp1 biolink:NamedThing chrXp1 (Human) tmpak2llvmy_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class HGNC:12873 biolink:NamedThing ZIC2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50949 biolink:NamedThing serotonin uptake inhibitor A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent. tmpak2llvmy_mondo_relaxed.owl serotonin reuptake inhibitor|SSRI owl:Class MONDO:0009168 biolink:NamedThing Fowler syndrome tmpak2llvmy_mondo_relaxed.owl cerebral proliferative glomeruloid vasculopathy|Encephaloclastic proliferative vasculopathy|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydrocephaly/hydranencephaly due to cerebral vasculopathy|hydranencephaly, fowler type|PVHH|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|Fowler syndrome Orphanet:221126|SCTID:700242002|OMIM:225790|DOID:0111666|MESH:C565593|ICD9:596.59|MedDRA:10071718 owl:Class HGNC:20105 biolink:NamedThing FLVCR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007018 biolink:NamedThing vulvitis Inflammation of the vulva. It is characterized by pruritus and painful urination. tmpak2llvmy_mondo_relaxed.owl mammalian vulva inflammation|inflammation of mammalian vulva ICD10:N76.2|UMLS:C0042996|MedDRA:10047780|SCTID:63144007|DOID:3901|EFO:1001239|MESH:D014847 owl:Class MONDO:0011973 biolink:NamedThing zinc deficiency, transient neonatal tmpak2llvmy_mondo_relaxed.owl TNZD|zinc deficiency, transient neonatal|zinc deficiency, neonatal, due to Low breast milk zinc|zinc in breast milk, reduced OMIM:608118|UMLS:C1842486|MESH:C564286 owl:Class HGNC:11013 biolink:NamedThing SLC30A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001772 biolink:NamedThing corneal epithelium the smooth stratified squamous epithelium that covers the outer surface of the cornea tmpak2llvmy_mondo_relaxed.owl cornea epithelium|endothelium camerae anterioris bulbi|epithelium corneæ anterior layer|external epithelium of cornea|epithelial tissue of cornea|anterior corneal epithelium|endothelium anterius corneae|endothelium corneale|epithelium posterius corneae|epithelium of cornea|epithelium anterius corneae|e. anterius corneae|cornea epithelial tissue|anterior endothelium of cornea|epithelium anterius (cornea) owl:Class MONDO:0000227 biolink:NamedThing African tick-bite fever tmpak2llvmy_mondo_relaxed.owl Rickettsia africae spotted fever|South African tick-bite fever UMLS:C1320317|DOID:0050035|SCTID:415561000 owl:Class NCBITaxon:35788 biolink:NamedThing Rickettsia africae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:8934912|PMID:7902843 ncbi_taxonomy owl:Class ENVO:00000020 biolink:NamedThing lake A body of water or other liquid of considerable size contained in a depression on a landmass. tmpak2llvmy_mondo_relaxed.owl loch|mortlake|open water|llyn|lough|catch basin|tarn|mere|lochan|pasteuer lake|broad owl:Class ENVO:01000635 biolink:NamedThing planetary landmass A landmass which is part of a planet. tmpak2llvmy_mondo_relaxed.owl ground|land owl:Class GO:0046655 biolink:NamedThing folic acid metabolic process The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. tmpak2llvmy_mondo_relaxed.owl folic acid metabolism|vitamin M metabolism|folate metabolic process|vitamin B9 metabolism|vitamin B9 metabolic process|folate metabolism|vitamin M metabolic process owl:Class ECTO:4000025 biolink:NamedThing exposure to increased pressure A exposure event involving the interaction of an exposure receptor to increased pressure. tmpak2llvmy_mondo_relaxed.owl increased pressure exposure owl:Class PATO:0001576 biolink:NamedThing increased pressure A pressure which is relatively high. tmpak2llvmy_mondo_relaxed.owl high pressure owl:Class PATO:0002505 biolink:NamedThing nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014210 biolink:NamedThing intellectual disability-hypotonia-spasticity-sleep disorder syndrome tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive type 37|mental retardation, autosomal recessive type 37|mental retardation, autosomal recessive 37|MRT37|intellectual disability, autosomal recessive 37 OMIM:615493|UMLS:C3809672|ICD10:G93.8|Orphanet:356996 owl:Class HGNC:494 biolink:NamedThing ANK3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010959 biolink:NamedThing van den Ende-Gupta syndrome Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. tmpak2llvmy_mondo_relaxed.owl VAN DEN Ende-Gupta syndrome|Van den Ende Gupta syndrome|blepharophimosis, arachnodactyly, and congenital contractures|Marden Walker like syndrome|Marden Walker like syndrome without psychomotor retardation|Marden-Walker-like syndrome|Marden-Walker-like syndrome without psychomotor retardation|VDEGS|van den Ende-Gupta syndrome ICD10:Q87.0|DOID:0111699|UMLS:C1833136|MESH:C535909|SCTID:719845008|GARD:0003382|Orphanet:2460|OMIM:600920 owl:Class HGNC:19869 biolink:NamedThing SCARF2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046322 biolink:NamedThing negative regulation of fatty acid oxidation Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. tmpak2llvmy_mondo_relaxed.owl downregulation of fatty acid oxidation|inhibition of fatty acid oxidation|down-regulation of fatty acid oxidation|down regulation of fatty acid oxidation owl:Class HsapDv:0000124 biolink:NamedThing 30-year-old human stage Adult stage that refers to an adult who is over 30 and under 31. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11075 biolink:NamedThing SLC9A3R1 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:1000029 biolink:NamedThing chromosomal_deletion An incomplete chromosome. tmpak2llvmy_mondo_relaxed.owl (Drosophila)Df|(bacteria)&Dgr;|(fungi)D|deficiency|chromosomal deletion owl:Class MONDO:0007704 biolink:NamedThing osteoarthritis susceptibility 2 tmpak2llvmy_mondo_relaxed.owl MATN3 osteoarthritis|OS2|osteoarthritis susceptibility 2|Dipoa|osteoarthritis caused by mutation in MATN3|hand osteoarthritis|OADIP|Heberden nodes|osteoarthritis of distal interphalangeal joints|osteoarthritis susceptibility type 2 OMIM:140600 owl:Class HGNC:6909 biolink:NamedThing MATN3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7467 biolink:NamedThing MTTP tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002063 biolink:NamedThing type II pneumocyte A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli. tmpak2llvmy_mondo_relaxed.owl granular pneumocyte|TII|AT2|lung type II cell|lung type 2 cell|type 2 pneumocyte|cuboidal type II cell|type II alveolar epithelial cell|type 2 alveolocyte|type II alveolar cell|type II alveolocyte|ATII|type 2 alveolar epithelial cell|great alveolar cell FMA:62501|BTO:0000538 tmeehan 2010-06-24T12:04:13Z cell owl:Class ENVO:01001069 biolink:NamedThing metallic material A material which is composed primarily of one or more pure metals and which shows their properties. tmpak2llvmy_mondo_relaxed.owl metal owl:Class N60beb5fa13ba4981a7f6c75100315ab2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011518 biolink:NamedThing Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. tmpak2llvmy_mondo_relaxed.owl hairy elbows, short stature, Facial Dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|Wiedemann-Steiner syndrome|Wiedemann Grosse Dibbern syndrome|WDSTS|A syndrome of abnormal facies, short stature, and psychomotor retardation OMIM:605130|ICD10:Q87.1|Orphanet:319182|MESH:C536704|GARD:0005565 https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome owl:Class HGNC:7132 biolink:NamedThing KMT2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008815 biolink:NamedThing argininosuccinic aciduria Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. tmpak2llvmy_mondo_relaxed.owl argininosuccinate lyase deficiency|urea cycle disorder, arginino succinase type|deficiency of argininosuccinate lyase|arginosuccinase deficiency|argininosuccinic acid lyase deficiency|inborn error of urea synthesis, arginino succinic type|arginino succinase deficiency|argininosuccinic acidemia|ASA deficiency|argininosuccinatelyase deficiency|ASL deficiency|argininosuccinic aciduria|argininosuccinicaciduria|argininosuccinate acidemia|argininosuccinase deficiency ICD10:E72.2|Orphanet:23|MedDRA:10058299|OMIM:207900|MESH:D056807|DOID:14755|NCIT:C84569|SCTID:41013004|UMLS:C0268547|GARD:0005843 https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria owl:Class HGNC:746 biolink:NamedThing ASL tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048589 biolink:NamedThing developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018903 biolink:NamedThing sarcocystosis Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. tmpak2llvmy_mondo_relaxed.owl sarcosporidiosis EFO:0007476|MedDRA:10039483|ICD10:A07.8|MESH:D012523|UMLS:C0036231|SCTID:88905005|DOID:9640|ICD9:136.5|Orphanet:54368 owl:Class UBERON:0035159 biolink:NamedThing entire surface of organism Anatomical surface, which is the external surface of the whole body. Examples: There is only one body surface. tmpak2llvmy_mondo_relaxed.owl surface of body owl:Class MONDO:0008720 biolink:NamedThing congenital isolated adrenocorticotropic hormone deficiency A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. tmpak2llvmy_mondo_relaxed.owl congenital isolated adrenocorticotropic hormone deficiency (disease)|adrenocorticotropic hormone deficiency|congenital isolated ACTH deficiency|IAD|isolated ACTH deficiency|ACTH deficiency, isolated|isolated adrenocorticotropic hormone deficiency congenital isolated adrenocorticotropic hormone deficiency (disease) HP:0011748|OMIM:201400|EFO:1001979|ICD10:E23.6|Orphanet:199296|DOID:0080150|MESH:C535668|ICD9:255.41|GARD:0005727|SCTID:237692001|UMLS:C0342388 owl:Class N282c909cc76e4a4a8896dc61f6ef6ddc biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0001265 biolink:NamedThing trabecula of spleen A trabecula that is part of a spleen. tmpak2llvmy_mondo_relaxed.owl splenic trabecula|spleen trabeculum owl:Class UBERON:1000024 biolink:NamedThing parenchyma of spleen A parenchyma that is part of a spleen. tmpak2llvmy_mondo_relaxed.owl splenic parenchyma owl:Class UBERON:0003436 biolink:NamedThing shoulder nerve A nerve that is part of a shoulder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of shoulder owl:Class NCBITaxon:1639 biolink:NamedThing Listeria monocytogenes tmpak2llvmy_mondo_relaxed.owl Erysipelothrix monocytogenes|Corynebacterium parvulum|Corynebacterium infantisepticum|Listerella hepatolytica|Bacterium monocytogenes|Bacterium monocytogenes hominis PMID:17773427|GC_ID:11|PMID:8782698|PMID:1906732 NCBITaxon:2482736|NCBITaxon:2482740|NCBITaxon:2486739|NCBITaxon:2482742|NCBITaxon:2293540|NCBITaxon:2482735|NCBITaxon:2485091|NCBITaxon:2486734|NCBITaxon:2482747|NCBITaxon:2485086|NCBITaxon:2482743|NCBITaxon:2364654|NCBITaxon:2485087|NCBITaxon:2484858|NCBITaxon:2293543|NCBITaxon:2484857|NCBITaxon:1634566|NCBITaxon:2482737|NCBITaxon:2482733|NCBITaxon:2482739|NCBITaxon:2485082|NCBITaxon:2482741|NCBITaxon:2482746|NCBITaxon:2485096|NCBITaxon:2482738|NCBITaxon:2482744|NCBITaxon:2485083|NCBITaxon:2485089|NCBITaxon:2364658|NCBITaxon:2364655|NCBITaxon:2485095|NCBITaxon:2486732|NCBITaxon:2293544|NCBITaxon:2486735|NCBITaxon:2364651|NCBITaxon:2485093|NCBITaxon:2482734|NCBITaxon:2293539|NCBITaxon:2482745|NCBITaxon:2293541|NCBITaxon:2486740|NCBITaxon:2482749|NCBITaxon:2486737|NCBITaxon:2293545|NCBITaxon:2486736|NCBITaxon:2486741|NCBITaxon:2485085|NCBITaxon:2293542|NCBITaxon:2485094|NCBITaxon:2485084|NCBITaxon:2364657|NCBITaxon:2486738|NCBITaxon:2364653|NCBITaxon:2485088|NCBITaxon:2293547|NCBITaxon:2364656|NCBITaxon:2293546|NCBITaxon:2486733|NCBITaxon:2485092|NCBITaxon:2364652|NCBITaxon:2485090|NCBITaxon:2482748|NCBITaxon:2364660|NCBITaxon:2364659 ncbi_taxonomy owl:Class MONDO:0004190 biolink:NamedThing nephrogenic adenoma of urinary bladder A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpak2llvmy_mondo_relaxed.owl urinary bladder nephrogenic adenoma|nephrogenic adenoma of the urinary bladder NCIT:C7415|UMLS:C1336892|DOID:7333 owl:Class UBERON:0008114 biolink:NamedThing joint of girdle A skeletal joint that is part of a appendage girdle region. tmpak2llvmy_mondo_relaxed.owl girdle joint owl:Class MONDO:0100449 biolink:NamedThing FLVCR1 retinopathy with or without ataxia A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene. tmpak2llvmy_mondo_relaxed.owl AXPC1|ataxia, posterior column, with retinitis pigmentosa|FLVCR1 retinopathy with or without ataxia|posterior column ataxia with retinitis pigmentosa|posterior column ataxia-retinitis pigmentosa syndrome|PCARP|autosomal recessive posterior column ataxia and retinitis pigmentosa owl:Class HGNC:24682 biolink:NamedThing FLVCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12791 biolink:NamedThing WRN tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000353 biolink:NamedThing blastoderm cell An undifferentiated cell produced by early cleavages of the fertilized egg (zygote). tmpak2llvmy_mondo_relaxed.owl blastomere FMA:72551|BTO:0001473 cell owl:Class MONDO:0013175 biolink:NamedThing retinitis pigmentosa 50 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. tmpak2llvmy_mondo_relaxed.owl RP50|retinitis pigmentosa type 50|retinitis pigmentosa, concentric|BEST1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in BEST1|retinitis pigmentosa 50 ICD10:H35.5|OMIM:613194|MESH:C567712|DOID:0110396 owl:Class CHEBI:62031 biolink:NamedThing polar amino acid zwitterion Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. tmpak2llvmy_mondo_relaxed.owl a polar amino acid owl:Class UBERON:0001450 biolink:NamedThing calcaneus The postaxial bone of the proximal tarsals series[Phenoscape]. tmpak2llvmy_mondo_relaxed.owl fibulare|calcaneum|os calcis|os tarsi fibulare|heel bone|calcanei|calcaneus bone|calcaneal bone owl:Class UBERON:0011137 biolink:NamedThing axial skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4116 biolink:NamedThing GALE tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000432 biolink:NamedThing conjunctival epithelial cell An epithelial cell that is part of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl epithelial cell of conjunctiva FMA:70552 cell owl:Class UBERON:0002673 biolink:NamedThing vestibular nuclear complex Nuclear complex containing the vestibular nuclei. tmpak2llvmy_mondo_relaxed.owl vestibular nucleus|vestibular nuclei|nuclei vestibulares|vestibular nuclei in medulla oblongata|nuclei vestibulares in medulla oblongata owl:Class HGNC:28844 biolink:NamedThing FBXO38 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004994 biolink:NamedThing mucosa of fundus of stomach A mucosa that is part of a fundus of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of fundus gastricus (ventricularis)|stomach fundus mucous membrane|fundus of stomach mucous membrane|mucosa of fundus gastricus (ventricularis)|fundus gastricus (ventricularis) organ mucosa|mucous membrane of fundus gastricus (ventricularis)|mucosa of stomach fundus|fundus gastricus (ventricularis) mucosa|stomach fundus mucosa of organ|organ mucosa of fundus gastricus (ventricularis)|stomach fundus organ mucosa|stomach fundus mucosa|mucous membrane of stomach fundus|fundus of stomach mucosa of organ|fundus of stomach organ mucosa|mucous membrane of fundus of stomach|fundus of stomach mucosa|fundus gastricus (ventricularis) mucosa of organ|organ mucosa of fundus of stomach|organ mucosa of stomach fundus|fundus gastricus (ventricularis) mucous membrane|mucosa of organ of fundus of stomach|mucosa of organ of stomach fundus owl:Class UBERON:0006233 biolink:NamedThing female genital tubercle A differentiated genital tubercle that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl genital tubercle of female owl:Class HGNC:3690 biolink:NamedThing FGFR3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006585 biolink:NamedThing vestibular organ An organ that is part of a vestibular system. tmpak2llvmy_mondo_relaxed.owl balance organ owl:Class MONDO:0009368 biolink:NamedThing urofacial syndrome type 1 tmpak2llvmy_mondo_relaxed.owl inverted smile and occult neuropathic bladder|UFS1|facial palsy, partial, with urinary abnormalities|hydronephrosis with peculiar Facial expression|Ochoa syndrome|urofacial syndrome|urofacial syndrome 1|urofacial syndrome type 1 OMIM:236730 owl:Class HGNC:18374 biolink:NamedThing HPSE2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003212 biolink:NamedThing gustatory organ Any sense organ that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912). tmpak2llvmy_mondo_relaxed.owl taste organ|gustatory system organ|organ of taste system|organ of gustatory system|taste system organ|organ of gustatory organ system|gustatory organ system organ owl:Class MONDO:0008822 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 1 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. tmpak2llvmy_mondo_relaxed.owl Arc syndrome|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|arthrogryposis, renal dysfunction, and cholestasis type 1|ARCS1|arthrogryposis, renal dysfunction, and cholestasis 1 DOID:0111353|OMIM:208085 owl:Class MONDO:0018068 biolink:NamedThing trisomy 13 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. tmpak2llvmy_mondo_relaxed.owl trisomy type 13|D1 trisomy|chromosome 13, trisomy 13 complete|Patau syndrome|D trisomy syndrome (formerly)|complete trisomy 13 syndrome|Patau's syndrome|trisomy 13 ICD10:Q91.4|MedDRA:10044686|UMLS:CN204386|DOID:11665|MESH:C536305|GARD:0007341|ICD10:Q91.7|Orphanet:3378|NCIT:C36529|UMLS:C0152095|ICD9:758.1|NCIT:C101223|ICD10:Q91.6|ICD10:Q91.5|SCTID:21111006 owl:Class GO:0070914 biolink:NamedThing UV-damage excision repair A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpak2llvmy_mondo_relaxed.owl alternative excision repair|UV-damaged DNA endonuclease-dependent excision repair|UVDE-dependent excision repair|AER|UVER owl:Class NCBITaxon:471472 biolink:NamedThing Chlamydia trachomatis 434/Bu tmpak2llvmy_mondo_relaxed.owl Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu GC_ID:11 ncbi_taxonomy owl:Class HGNC:8623 biolink:NamedThing PAX9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005786 biolink:NamedThing Hepadnaviridae infectious disease Virus diseases caused by the hepadnaviridae. tmpak2llvmy_mondo_relaxed.owl Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder UMLS:C0206746|EFO:0007301|MESH:D018347 owl:Class NCBITaxon:10404 biolink:NamedThing Hepadnaviridae tmpak2llvmy_mondo_relaxed.owl hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0007588 biolink:NamedThing excretion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011232 biolink:NamedThing migraine, familial hemiplegic, 2 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene. tmpak2llvmy_mondo_relaxed.owl migraine, familial hemiplegic, type 2|migraine, familial hemiplegic, 2|FHM2|Mhp2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|migraine, familial basilar|familial hemiplegic migraine type 2|hemiplegic migraine, familial type 2|ATP1A2 familial or sporadic hemiplegic migraine UMLS:C1865322|OMIM:602481|GARD:0010095|DOID:0111182 owl:Class HGNC:800 biolink:NamedThing ATP1A2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3689 biolink:NamedThing FGFR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000680 biolink:NamedThing astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. tmpak2llvmy_mondo_relaxed.owl astereognosia (disease)|somatosensory agnosia|astereognosia astereognosia (disease) DOID:0060150|HP:0010527 owl:Class HP:0010527 biolink:NamedThing Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. tmpak2llvmy_mondo_relaxed.owl Somatosensory agnosia|Astereognosis MSH:D000377|SNOMEDCT_US:25094008|UMLS:C0234505 peter 2009-09-20T11:41:58Z human_phenotype owl:Class NCBITaxon:62324 biolink:NamedThing Anopheles funestus tmpak2llvmy_mondo_relaxed.owl African malaria mosquito GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003068 biolink:NamedThing axial mesoderm The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. tmpak2llvmy_mondo_relaxed.owl chordamesoderm owl:Class MONDO:0013409 biolink:NamedThing age related macular degeneration 5 Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. tmpak2llvmy_mondo_relaxed.owl ARMD5|age-related macular degeneration caused by mutation in ERCC6|ERCC6 age-related macular degeneration|macular degeneration, age-related, 5|macular Degeneration, age-related, type 5|age related macular degeneration type 5 UMLS:C3151063|DOID:0110028|OMIM:613761 owl:Class HGNC:3438 biolink:NamedThing ERCC6 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0011016 biolink:NamedThing flagellated sperm cell A motile sperm cell that contains a slender threadlike microscopic appendage that enables motion. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001365 biolink:NamedThing sacro-iliac joint The joint in the bony pelvis between the sacrum and the ilium of the pelvis, which are joined by strong ligaments. tmpak2llvmy_mondo_relaxed.owl sacroiliac joint|articulatio sacro-iliaca owl:Class UBERON:0001270 biolink:NamedThing bony pelvis A ring of bone formed by the sacrum and the first few coccygeal vertebrae as the roof, the pubis and ischia as the floor and the ilia and the acetabular part of the ischia as the walls. tmpak2llvmy_mondo_relaxed.owl skeletal system of pelvis|pelvis ossea owl:Class ENVO:04000004 biolink:NamedThing concentration of carbon dioxide in air The concentration of carbon dioxide when measured in air. tmpak2llvmy_mondo_relaxed.owl owl:Class Ndeb4f964bf3c49598baec8749695dd72 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0010260 biolink:NamedThing umbilical blood vessel One of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta. tmpak2llvmy_mondo_relaxed.owl umbilical cord blood vessel|allantoic vessel|umbilical vasculature|umbilical vessel|umbilical cord blood vessels owl:Class N5f5d4fa22ca8499bb39e9cf10c705338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0008870 biolink:NamedThing pulmonary alveolar parenchyma The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6256 biolink:NamedThing KCNJ10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014673 biolink:NamedThing cataract 44 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. tmpak2llvmy_mondo_relaxed.owl cataract type 44|LSS early-onset non-syndromic cataract|total early-onset cataract|cataract 44|CTRCT44|early-onset non-syndromic cataract caused by mutation in LSS DOID:0110267|ICD10:Q12.0|OMIM:616509|UMLS:C4225300 owl:Class HGNC:6708 biolink:NamedThing LSS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004239 biolink:NamedThing cervical keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. tmpak2llvmy_mondo_relaxed.owl cervical keratinizing squamous cell carcinoma NCIT:C40187|DOID:7483|UMLS:C1517658 owl:Class UBERON:0008192 biolink:NamedThing tendon of triceps brachii A tendon that attaches_to a triceps brachii. tmpak2llvmy_mondo_relaxed.owl tendon of triceps brachii muscle|triceps tendon|triceps brachii tendon owl:Class UBERON:0001183 biolink:NamedThing inferior mesenteric artery Mesenteric artery that supplies the large intestine from the left colic (or splenic) flexure to the upper part of the rectum, which includes the descending colon, the sigmoid colon, and part of the rectum. Proximally, its territory of distribution overlaps (forms a watershed) with the middle colic artery, and therefore the superior mesenteric artery. The SMA and IMA anastomose via the marginal artery (artery of Drummond). The territory of distribution of the IMA is more or less equivalent to the embryonic hindgut. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria mesenterica inferior|inferior mesenteric arterial tree|IMA owl:Class CL:0000827 biolink:NamedThing pro-T cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. tmpak2llvmy_mondo_relaxed.owl DN1 cell|pro-T lymphocyte|progenitor T cell|TN1 cell|DN1 thymocyte cell owl:Class UBERON:0014704 biolink:NamedThing pleuroperitoneal canal lumen A anatomical space that is enclosed by a pleuroperitoneal canal. tmpak2llvmy_mondo_relaxed.owl pleuro-peritoneal canal cavity owl:Class MONDO:0013710 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 5 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. tmpak2llvmy_mondo_relaxed.owl MSH6 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in MSH6|HNPCC5|colorectal cancer, hereditary nonpolyposis, type 5 MESH:C563456|UMLS:C1833477|DOID:0070272|OMIM:614350 owl:Class HP:0001010 biolink:NamedThing Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. tmpak2llvmy_mondo_relaxed.owl Hypopigmentation|Hypopigmented skin|Skin hypopigmentation|Patchy lightened skin MSH:D017496|SNOMEDCT_US:18655006|SNOMEDCT_US:201284005|UMLS:C0162835|SNOMEDCT_US:89031001|SNOMEDCT_US:23006000 HP:0005589|HP:0007622|HP:0007604 human_phenotype owl:Class MONDO:0011383 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2A A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl autoimmune lymphoproliferative syndrome, type 2|CASP10 autoimmune lymphoproliferative syndrome|ALPS-CASP10|type 2 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type IIA|autoimmune lymphoproliferative syndrome type IIA|type 2 ALPS|ALPS2A|autoimmune lymphoproliferative syndrome, type 2A|autoimmune lymphoproliferative syndrome-CASP10 variant|autoimmune lymphoproliferative syndrome caused by mutation in CASP10 NCIT:C39576|MESH:C565833|UMLS:C1858968|ICD10:D47.9|UMLS:C1519709|DOID:0110115|OMIM:603909 owl:Class UBERON:0036248 biolink:NamedThing joint of auditory ossicle Any synovial joint that connects auditory ossicles. tmpak2llvmy_mondo_relaxed.owl joint of auditory ossicles|auditory ossicles joint|auditory ossicle joint owl:Class MONDO:0012333 biolink:NamedThing autosomal recessive nonsyndromic deafness 53 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|DFNB53|deafness, autosomal recessive type 53|COL11A2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 53|autosomal recessive deafness 53|deafness, autosomal recessive 53 DOID:0110509|OMIM:609706|UMLS:C1864746|ICD10:H90.3|MESH:C566453 owl:Class UBERON:0001897 biolink:NamedThing dorsal plus ventral thalamus Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87). tmpak2llvmy_mondo_relaxed.owl thalamus|thalamencephalon|thalami|Th|thalamus opticus|wider thalamus owl:Class UBERON:0001044 biolink:NamedThing saliva-secreting gland saliva-secreting exocrine glands of the oral cavity[GO] tmpak2llvmy_mondo_relaxed.owl glandulae salivariae|salivary gland owl:Class UBERON:0005009 biolink:NamedThing mucosa of trigone of urinary bladder A mucosa that is part of a trigone of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vesical trigone mucous membrane|mucosa of organ of trigone of bladder|urinary bladder trigone mucosa of organ|vesical trigone mucosa of organ|mucosa of organ of deep trigone|mucosa of organ of trigone of urinary bladder|organ mucosa of Lieutaud ' s trigone|Lieutaud ' s trigone mucous membrane|organ mucosa of deep trigone|organ mucosa of urinary bladder trigone|mucous membrane of trigone of urinary bladder|trigone of urinary bladder organ mucosa|deep trigone mucous membrane|organ mucosa of vesical trigone|vesical trigone organ mucosa|mucosa of Lieutaud ' s trigone|Lieutaud ' s trigone mucosa|trigone of urinary bladder mucous membrane|mucous membrane of trigone of bladder|trigone of bladder mucosa of organ|mucosa of urinary bladder trigone|trigone of bladder mucous membrane|mucous membrane of urinary bladder trigone|vesical trigone mucosa|deep trigone organ mucosa|organ mucosa of trigone of urinary bladder|trigone of urinary bladder mucosa of organ|deep trigone mucosa|organ mucosa of trigone of bladder|mucosa of organ of urinary bladder trigone|mucous membrane of Lieutaud ' s trigone|urinary bladder trigone mucous membrane|mucous membrane of deep trigone|mucosa of trigone of bladder|trigone of bladder organ mucosa|mucosa of organ of Lieutaud ' s trigone|mucosa of vesical trigone|Lieutaud ' s trigone organ mucosa|mucosa of organ of vesical trigone|Lieutaud ' s trigone mucosa of organ|trigone of bladder mucosa|urinary bladder trigone organ mucosa|mucosa of deep trigone|urinary bladder trigone mucosa|trigone of urinary bladder mucosa|deep trigone mucosa of organ|mucous membrane of vesical trigone owl:Class IAO:0000104 biolink:NamedThing plan specification A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:0000005 biolink:NamedThing objective specification A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved.|a directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023186 biolink:NamedThing Fraser Jequier Chen syndrome tmpak2llvmy_mondo_relaxed.owl chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs GARD:0002373|MESH:C535481|UMLS:C2930912 https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome owl:Class N5d9395be38804bd2ad79b3e0060e5a3f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0001568 biolink:NamedThing blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003458 biolink:NamedThing uterine corpus adenofibroma A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core. tmpak2llvmy_mondo_relaxed.owl body of uterus adenofibroma|adenofibroma of the uterine body|adenofibroma of the corpus uteri|adenofibroma of the uterine corpus|corpus uteri adenofibroma|adenofibroma of corpus uteri|adenofibroma of uterine corpus|uterine body adenofibroma|adenofibroma of uterine body|adenofibroma of the body of uterus|adenofibroma of body of uterus DOID:5475|NCIT:C6337|UMLS:C1336901 owl:Class MONDO:0030045 biolink:NamedThing Liberfarb syndrome A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. tmpak2llvmy_mondo_relaxed.owl Spondyloepimetaphyseal Dysplasia, Liberfarb Type|LIBF|LIBERFARB SYNDROME|Liberfarb syndrome OMIM:618889 owl:Class HGNC:8999 biolink:NamedThing PISD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013645 biolink:NamedThing autosomal recessive spinocerebellar ataxia 11 Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|autosomal recessive spinocerebellar ataxia type 11|spinocerebellar ataxia, autosomal recessive type 11|spinocerebellar ataxia, autosomal recessive 11|SCAR11 DOID:0080063|Orphanet:284271|OMIM:614229|UMLS:C3280226|ICD10:G11.1 owl:Class MONDO:0022872 biolink:NamedThing corpus callosum dysgenesis X-linked recessive tmpak2llvmy_mondo_relaxed.owl GARD:0001543 https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive owl:Class MONDO:0011920 biolink:NamedThing autosomal dominant nonsyndromic deafness 48 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|deafness, autosomal dominant type 48|DFNA48|autosomal dominant nonsyndromic deafness type 48|MYO1A autosomal dominant nonsyndromic deafness|autosomal dominant deafness 48|deafness, autosomal dominant 48 DOID:0110571|MESH:C564322|UMLS:C1842939|OMIM:607841|ICD10:H90.3 owl:Class HGNC:7595 biolink:NamedThing MYO1A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4195 biolink:NamedThing GCK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015523 biolink:NamedThing epithelioid hemangioendothelioma A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. tmpak2llvmy_mondo_relaxed.owl epithelioid hemangioendothelioma|malignant epithelioid hemangioendothelioma|epithelioid angioendothelioma|epithelioid angiosarcoma MESH:D018323|ICDO:9133/3|Orphanet:157791|ICDO:9130/3|ICD10:D18.0|NCIT:C3800|ICDO:9133/1|UMLS:C0206732|DOID:0080190|SCTID:54124005|ONCOTREE:EHAE https://github.com/monarch-initiative/mondo/issues/3741 owl:Class MONDO:0004457 biolink:NamedThing maxillary sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpak2llvmy_mondo_relaxed.owl Schneiderian papilloma of maxillary sinus|maxillary sinus paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the maxillary sinus|maxillary sinus Schneiderian papilloma|paranasal sinus Schneiderian papilloma of maxillary sinus NCIT:C6839|DOID:8093|UMLS:C1334646 owl:Class HGNC:3974 biolink:NamedThing FTCD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010818 biolink:NamedThing retinitis pigmentosa 12 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. tmpak2llvmy_mondo_relaxed.owl RP with or without preserved Paraarteriole retinal pigment epithelium|RP12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|CRB1 retinitis pigmentosa|retinitis pigmentosa 12|RP 12|retinitis pigmentosa type 12|RP with or without Pprpe|retinitis pigmentosa caused by mutation in CRB1 UMLS:C1838647|OMIM:600105|DOID:0110358|ICD10:H35.5|MESH:C563999|GARD:0010376 https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12 owl:Class HGNC:2343 biolink:NamedThing CRB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29843 biolink:NamedThing NSMF tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012375 biolink:NamedThing subserosa A layer of tissue between the muscularis and serosa. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26929 biolink:NamedThing CDIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019209 biolink:NamedThing Japanese encephalitis A disease due to a virus transmitted by an arthropod). tmpak2llvmy_mondo_relaxed.owl Japanese B encephalitis|JE SCTID:52947006|ICD9:062.0|ICD10:A83.0|MedDRA:10014596|MESH:D004672|DOID:10844|UMLS:C0014057|EFO:0007332|GARD:0006797|NCIT:C34577|Orphanet:79139 https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis owl:Class UBERON:0013121 biolink:NamedThing proximal epiphysis of phalanx of pes tmpak2llvmy_mondo_relaxed.owl basis phalangis (pedis)|basis phalangis pedis|base of phalanx of foot|basal epiphysis of phalanx of foot|proximal epiphysis of phalanx of toe owl:Class MONDO:0012500 biolink:NamedThing chilblain lupus 1 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. tmpak2llvmy_mondo_relaxed.owl chilblain lupus caused by mutation in TREX1|TREX1 chilblain lupus|chilblain lupus type 1|CHBL1|chilblain lupus 1 OMIM:610448 owl:Class HGNC:12269 biolink:NamedThing TREX1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003872 biolink:NamedThing 6-phosphofructokinase activity Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. tmpak2llvmy_mondo_relaxed.owl fructose 6-phosphate kinase activity|6-phosphofructose 1-kinase activity|phospho-1,6-fructokinase activity|D-fructose-6-phosphate 1-phosphotransferase activity|nucleotide triphosphate-dependent phosphofructokinase activity|fructose 6-phosphokinase activity|phosphofructokinase (phosphorylating)|PFK|phosphofructokinase I activity|ATP-dependent phosphofructokinase activity|phosphohexokinase activity|6-phosphofructokinase reduction|ATP:D-fructose-6-phosphate 1-phosphotransferase activity owl:Class ENVO:00000100 biolink:NamedThing valley A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate. tmpak2llvmy_mondo_relaxed.owl graben|gully|gorge|coulee|glacial gorge|hollow|strath|trench|glacial trough|vale|median valley|seachannel|ravine|glen|dale|lavaka|re-entrant|shelf valley|moat|gulch|goe|chasm|water gap owl:Class ENVO:02500028 biolink:NamedThing planetary erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034736 biolink:NamedThing coracoclavicular ligament Any ligament that connects the coracoid process with the clavicle tmpak2llvmy_mondo_relaxed.owl accessory ligament of acromioclavicular joint owl:Class ENVO:01000544 biolink:NamedThing boundary layer A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow. tmpak2llvmy_mondo_relaxed.owl boundary layer owl:Class ENVO:00010504 biolink:NamedThing surface layer A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015176 biolink:NamedThing undetermined colitis Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. tmpak2llvmy_mondo_relaxed.owl ICD10:K52.3|Orphanet:103920 owl:Class MONDO:0032619 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 14 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14|MC1DN14 OMIM:618236 owl:Class HGNC:20371 biolink:NamedThing NDUFA11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012323 biolink:NamedThing lethal acantholytic epidermolysis bullosa Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. tmpak2llvmy_mondo_relaxed.owl EBLA|LAEB|lethal acantholytic epidermolysis bullosa|epidermolysis bullosa, lethal acantholytic Orphanet:158687|GARD:0009910|UMLS:C1864826|OMIM:609638|ICD10:Q81.0|MESH:C535493 https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic owl:Class UBERON:0001230 biolink:NamedThing glomerular capsule A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus tmpak2llvmy_mondo_relaxed.owl Malphigian capsule|capsula glomeruli|renal glomerular capsule|Muellerian capsule|Bowman's capsule|Bowmans capsule|Mueller capsule|Malpighian capsule|pronephric glomerular capsule|capsula glomerularis owl:Class MONDO:0041366 biolink:NamedThing acute epiglottitis Acute form of epiglottitis. tmpak2llvmy_mondo_relaxed.owl acute epiglottitis|epiglottitis, acute|acute epiglottitis and supraglottitis SCTID:29608009 owl:Class MONDO:0016839 biolink:NamedThing distal 17p13.3 microdeletion syndrome Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. tmpak2llvmy_mondo_relaxed.owl distal monosomy 17p13.3|distal del(17)(p13.3) Orphanet:261257|SCTID:764696007|UMLS:CN202175|ICD10:Q93.5 owl:Class UBERON:0003923 biolink:NamedThing dorsal pancreatic bud pancreatic bud that gives rise to the accessory pancreatic duct. tmpak2llvmy_mondo_relaxed.owl primary pancreatic bud|pancreas primordium dorsal bud|dorsal pancreatic anlage|dorsal pancreas anlage|posterior pancreatic bud|posterior pancreatic anlage|pancreas dorsal primordium duct bud owl:Class MONDO:0000927 biolink:NamedThing asymptomatic neurosyphilis tmpak2llvmy_mondo_relaxed.owl DOID:10035|ICD9:094.3|ICD10:A52.2|UMLS:C0153167|SCTID:37754005 owl:Class HGNC:2328 biolink:NamedThing CPT1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009196 biolink:NamedThing indifferent external genitalia tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00003082 biolink:NamedThing enriched soil A portion of enriched soil is a portion of soil with elevated levels of some material entity. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:2679 biolink:NamedThing amphetamine A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine. tmpak2llvmy_mondo_relaxed.owl beta-Phenylisopropylamin|beta-phenylisopropylamine|rac-amphetamine|alpha-methylphenylethylamine|Amphetamin|amphetamine|anfetamina|1-Phenylpropan-2-amin|beta-aminopropylbenzene|1-phenyl-2-aminopropane|amfetamine|alpha-methylbenzeneethaneamine|Amfetamine|rac-(2R)-1-phenylpropan-2-amine|amfetaminum|amphetaminium|Benzedrine|amfetamina|desoxynorephedrine|Amphetamine owl:Class HGNC:12012 biolink:NamedThing TPM3 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001211 biolink:NamedThing stellar radiation An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star. tmpak2llvmy_mondo_relaxed.owl solar radiation owl:Class CHEBI:27638 biolink:NamedThing cobalt atom A cobalt group element atom that has atomic number 27. tmpak2llvmy_mondo_relaxed.owl 27Co|cobalt|Kobalt|cobalto|Cobalt|cobaltum|Co owl:Class MONDO:0011070 biolink:NamedThing van Maldergem syndrome 1 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. tmpak2llvmy_mondo_relaxed.owl VAN Maldergem syndrome 1|van Maldergem syndrome caused by mutation in DCHS1|Cerebrofacioarticular syndrome|van Maldergem syndrome 1|VMLDS1|Van Maldergem syndrome type 1|DCHS1 van Maldergem syndrome DOID:0080585|OMIM:601390 owl:Class HGNC:13681 biolink:NamedThing DCHS1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:34016 biolink:NamedThing RNU4ATAC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017337 biolink:NamedThing inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. tmpak2llvmy_mondo_relaxed.owl SCTID:764960005|ICD10:E27.1|Orphanet:289548 owl:Class GO:2001252 biolink:NamedThing positive regulation of chromosome organization Any process that activates or increases the frequency, rate or extent of chromosome organization. tmpak2llvmy_mondo_relaxed.owl positive regulation of nuclear genome maintenance|positive regulation of maintenance of genome integrity|positive regulation of chromosome organization and biogenesis|positive regulation of chromosome organisation owl:Class GO:0002644 biolink:NamedThing negative regulation of tolerance induction Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction. tmpak2llvmy_mondo_relaxed.owl down-regulation of tolerance induction|inhibition of tolerance induction|down regulation of tolerance induction|downregulation of tolerance induction owl:Class MONDO:0008119 biolink:NamedThing spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. tmpak2llvmy_mondo_relaxed.owl cerebelloparenchymal disorder 1|olivopontocerebellar atrophy 1|Sca1|OPCA4|spinocerebellar ataxia 1|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|ATXN1 autosomal dominant cerebellar ataxia type I|olivopontocerebellar atrophy 4|spinocerebellar atrophy 1|OPCA 4|OPCA1|OPCA 1|spinocerebellar ataxia type 1|Schut-haymaker type OPCA|Menzel type OPCA UMLS:C0752120|Orphanet:98755|DOID:0050954|NCIT:C129982|ICD10:G11.8|GARD:0004071|SCTID:715748006|OMIM:164400 owl:Class HGNC:10548 biolink:NamedThing ATXN1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34613 biolink:NamedThing Ixodes ricinus tmpak2llvmy_mondo_relaxed.owl castor bean tick GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035111 biolink:NamedThing medial plantar nerve A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1. tmpak2llvmy_mondo_relaxed.owl nervus plantaris medialis|internal plantar nerve owl:Class OBO:CHR_9606-chr19p1 biolink:NamedThing chr19p1 (Human) tmpak2llvmy_mondo_relaxed.owl 26200000 0 hg38 owl:Class OBO:CHR_9606-chr19p biolink:NamedThing chr19p (Human) tmpak2llvmy_mondo_relaxed.owl 26200000 0 hg38 owl:Class HGNC:2207 biolink:NamedThing COL4A5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004821 biolink:NamedThing pulmonary alveolus epithelium The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO]. tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar epithelium|alveolus epithelial tissue|alveolar epithelium|pulmonary alveolus epithelium|alveolus epithelium|epithelium of alveolus|epithelial tissue of alveolus|epithelium of pulmonary alveolus owl:Class PATO:0002444 biolink:NamedThing mineralized A composition quality inhering in a bearer by virtue of the bearer's being composed of or possessing inorganic material. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005759 biolink:NamedThing mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. tmpak2llvmy_mondo_relaxed.owl mitochondrial lumen|mitochondrial stroma owl:Class MONDO:0013493 biolink:NamedThing acetyl-coa carboxylase deficiency tmpak2llvmy_mondo_relaxed.owl Acaca deficiency|Acc1 deficiency|ACETYL-CoA carboxylase deficiency|ACACAD OMIM:613933|MESH:C562678|UMLS:C0268603 owl:Class HGNC:84 biolink:NamedThing ACACA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019614 biolink:NamedThing pituitary deficiency due to Rathke's pouch cysts tmpak2llvmy_mondo_relaxed.owl pituitary deficiency due to Rathke's cleft cysts ICD10:E23.0|Orphanet:91350 owl:Class MONDO:0011735 biolink:NamedThing hyper-IgM syndrome type 3 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. tmpak2llvmy_mondo_relaxed.owl hyper-IgM syndrome 3|hyper-IgM syndrome due to CD40 deficiency|hyper IgM syndrome 3|type 3 hyper-IgM immunodeficiency|immunodeficiency with hyper-IgM, type 3|immunodeficiency with hyper IgM type 3|immunodeficiency with hyper-IgM type 3|hyper-IgM syndrome caused by mutation in CD40|CD40 hyper-IgM syndrome|HIGM3|CD40 deficiency GARD:0010579|DOID:0060023|Orphanet:101090|ICD10:D80.5|OMIM:606843 https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 owl:Class HGNC:11919 biolink:NamedThing CD40 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003244 biolink:NamedThing epithelium of mammary gland the epithelial layer of the luminal surfaces of the mammary gland tmpak2llvmy_mondo_relaxed.owl epithelium of lactiferous gland|mammary epithelium|mammary gland epithelial tissue|mammary gland epithelium|lactiferous gland epithelium owl:Class UBERON:0003922 biolink:NamedThing pancreatic epithelial bud The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. tmpak2llvmy_mondo_relaxed.owl pancreatic buds|pancreas epithelium|pancreatic bud|pancreatic anlage owl:Class NCBITaxon:119088 biolink:NamedThing Enoplea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010559 biolink:NamedThing MASA syndrome MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 1|MASA syndrome|Clasped thumb and intellectual disability|thumb, congenital Clasped, with intellectual disability|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|Clasped thumb and mental retardation|spastic paraplegia, X-linked|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|X-linked spastic paraplegia 1|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|crash syndrome|Gareis-Mason syndrome|thumb congenital clasped with intellectual disability|X-linked corpus callosum agenesis|hereditary spastic paraplegia 1|mental retardation, aphasia, shuffling Gait, and adducted thumbs|spastic paraplegia 1, X-linked|X-linked complicated hereditary spastic paraplegia type 1|thumb, congenital Clasped, with mental retardation|thumb congenital clasped with mental retardation|adducted thumb with mental retardation|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|adducted thumb with intellectual disability NCIT:C129930|ICD10:G11.4|Orphanet:2466|UMLS:C0795953|GARD:0006986|SCTID:716996008|DOID:0060246|OMIM:303350 owl:Class HGNC:6470 biolink:NamedThing L1CAM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012943 biolink:NamedThing retinitis pigmentosa 46 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, autosomal recessive, Idh3B-related|retinitis pigmentosa type 46|retinitis pigmentosa caused by mutation in IDH3B|IDH3B retinitis pigmentosa|RP46|retinitis pigmentosa 46 ICD10:H35.5|MESH:C567249|UMLS:C2675496|OMIM:612572|DOID:0110409 owl:Class HGNC:5385 biolink:NamedThing IDH3B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002178 biolink:NamedThing left main bronchus The main bronchus on the left side. tmpak2llvmy_mondo_relaxed.owl left bronchus|left primary bronchus|left major bronchus|bronchus principalis sinister|left principal bronchus owl:Class MONDO:0010632 biolink:NamedThing developmental and epileptic encephalopathy, 1 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. tmpak2llvmy_mondo_relaxed.owl XMESID|arx early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in ARX|West syndrome, X-linked|ARX early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 1|Ohtahara syndrome, X-linked|EIEE1|DEE1|infantile epileptic-dyskinetic encephalopathy|epileptic encephalopathy, early infantile, 1|infantile spasm syndrome, X-linked 1|early infantile epileptic encephalopathy caused by mutation in arx OMIM:308350|UMLS:C3463992|DOID:0080468 owl:Class HGNC:18060 biolink:NamedThing ARX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008412 biolink:NamedThing intestinal schistosomiasis An intestinal infection that is caused by Schistosoma japonicum. tmpak2llvmy_mondo_relaxed.owl schistosomiasis japonica|Katayama fever|Schistosoma mansoni, intensity of infection by|Schistosoma mansoni infection, susceptibility/resistance to EFO:1001419|ICD10:B65.1|SCTID:240796008|DOID:0050597|ICD9:120.2|ICD9:120.1|OMIM:181460|ICD10:B65.2 owl:Class HP:0002573 biolink:NamedThing Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. tmpak2llvmy_mondo_relaxed.owl Recurrent rectal bleeding|Rectal bleeding SNOMEDCT_US:236068001|UMLS:C0018932|SNOMEDCT_US:405729008|MSH:D006471 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. HP:0002609|HP:0002255 human_phenotype owl:Class NCBITaxon:31704 biolink:NamedThing Coxsackievirus A16 tmpak2llvmy_mondo_relaxed.owl Human coxsackievirus A16|Coxsackie virus A-16|CVA-16|CVA16|CV-A16|Coxsackie A virus type 16|Human enterovirus CVA16 GC_ID:1 ncbi_taxonomy owl:Class UBERON:8410017 biolink:NamedThing left colic vein A portal vein that drains the descending colon. It is a tributary of the inferior mesenteric vein, and follows the path of its corresponding artery, the left colic artery. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005386 biolink:NamedThing olfactory segment of nasal mucosa That portion of the nasal mucosa containing the sensory endings for olfaction; the organ of smell[MESH]. tmpak2llvmy_mondo_relaxed.owl olfactory zone of nasal mucosa|pars olfactoria tunicae mucosae nasi|olfactory mucosa|olfactory part of nasal mucosa|olfactory area of nasal mucosa owl:Class UBERON:0006241 biolink:NamedThing future spinal cord tmpak2llvmy_mondo_relaxed.owl presumptive spinal cord neural keel|presumptive spinal cord neural plate|presumptive spinal cord neural rod|presumptive spinal cord owl:Class CHEBI:78433 biolink:NamedThing refrigerant A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. tmpak2llvmy_mondo_relaxed.owl refrigerants owl:Class GO:0060348 biolink:NamedThing bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010257 biolink:NamedThing 6th arch mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 6th arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl branchial arch 6 mesenchyme from neural crest|pharyngeal arch 6 mesenchyme from neural crest|neural crest derived arch 6 mesenchyme owl:Class MONDO:0007487 biolink:NamedThing dyslexia, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl dyslexia, susceptibility to, 1|dyslexia, susceptibility to, 7|dyslexia, susceptibility to, 4|DYX1|Word-blindness, congenital|susceptibility to dyslexia 1|dyslexia, susceptibility to, type 1|reading disability, specific, 1 OMIM:127700 owl:Class MONDO:0014819 biolink:NamedThing autosomal dominant Robinow syndrome 3 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. tmpak2llvmy_mondo_relaxed.owl Robinow syndrome, autosomal dominant type 3|DRS3|Robinow syndrome, autosomal dominant 3|DVL3 Robinow syndrome|Robinow syndrome caused by mutation in DVL3|autosomal dominant Robinow syndrome type 3 UMLS:C4225164|OMIM:616894|ICD10:Q87.1|DOID:0060767 owl:Class HP:0001609 biolink:NamedThing Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. tmpak2llvmy_mondo_relaxed.owl Hoarse voice|Hoarseness|Husky voice UMLS:C0019825|UMLS:C1854348|MSH:D006685|SNOMEDCT_US:50219008 HP:0001613|HP:0001619 human_phenotype owl:Class UBERON:0009578 biolink:NamedThing myelencephalon sulcus limitans A sulcus limitans of neural tube that is part of a future myelencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010096 biolink:NamedThing future myelencephalon A developing anatomical structure that has the potential to develop into a myelencephalon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022758 biolink:NamedThing chromosome 22, monosome mosaic tmpak2llvmy_mondo_relaxed.owl chromosome 22 mosaic monosomy|Mosaic monosome 22 UMLS:CN036765|MESH:C536798 owl:Class OBO:CHR_9606-chr15q13.3 biolink:NamedThing chr15q13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 33400000 30900000 hg38 owl:Class OBO:CHR_9606-chr15q13 biolink:NamedThing chr15q13 (Human) tmpak2llvmy_mondo_relaxed.owl 33400000 27800000 hg38 owl:Class MONDO:0003387 biolink:NamedThing urethra clear cell adenocarcinoma A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. tmpak2llvmy_mondo_relaxed.owl urethral clear cell adenocarcinoma|clear cell adenocarcinoma of the urethra|urethra clear cell adenocarcinoma|clear cell adenocarcinoma of urethra NCIT:C6172|UMLS:C1336886|DOID:5307 owl:Class HGNC:368 biolink:NamedThing AKAP10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018829 biolink:NamedThing familial schizencephaly An instance of schizencephaly that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl familial schizencephaly|hereditary schizencephaly Orphanet:481986|UMLS:CN776926|MESH:C538514|GARD:0000166|UMLS:C2931870 owl:Class MONDO:0014436 biolink:NamedThing Bardet-Biedl syndrome 8 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome type 8|TTC8 Bardet-Biedl syndrome|BBS8|Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome 8 ICD10:Q87.89|MESH:C565917|GARD:0010207|UMLS:C1859566|OMIM:615985|DOID:0110130 https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 owl:Class OBO:CHR_9606-chrXq28 biolink:NamedThing chrXq28 (Human) tmpak2llvmy_mondo_relaxed.owl 156040895 148000000 hg38 owl:Class Na6961b1dbd4942148163b658bcef9f1c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018662 biolink:NamedThing autosomal recessive brachyolmia Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. tmpak2llvmy_mondo_relaxed.owl brachyolmia, autosomal recessive|brachyolmia, Hobaek/Toledo type UMLS:CN237725|ICD10:Q76.3|Orphanet:448242 owl:Class MONDO:0013605 biolink:NamedThing brittle cornea syndrome 2 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. tmpak2llvmy_mondo_relaxed.owl brittle cornea syndrome 2|BCS2|brittle cornea syndrome caused by mutation in PRDM5|brittle cornea syndrome type 2|PRDM5 brittle cornea syndrome OMIM:614170|UMLS:C3280011 owl:Class MONDO:0019545 biolink:NamedThing systemic monochloroacetate poisoning Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. tmpak2llvmy_mondo_relaxed.owl ICD10:T60.3|Orphanet:90069 owl:Class MONDO:0013933 biolink:NamedThing peroxisome biogenesis disorder 5B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder type 5B|peroxisome biogenesis disorder 5B|PBD5B NCIT:C155757|OMIM:614867|UMLS:C3542026 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013256 biolink:NamedThing chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. tmpak2llvmy_mondo_relaxed.owl Witteveen-Kolk syndrome|chromosome 15q24 deletion syndrome|WITKOS|monosomy 15q24|chromosome 15Q24 Duplication syndrome|15q24 microdeletion syndrome|Del(15)(q24) UMLS:CN237818|SCTID:699308002|GARD:0012219|MESH:C579849|ICD10:Q93.5|UMLS:C3150674|OMIM:613406|Orphanet:94065|DOID:0060395 owl:Class OBO:CHR_9606-chr15q24 biolink:NamedThing chr15q24 (Human) tmpak2llvmy_mondo_relaxed.owl 78000000 72400000 hg38 owl:Class MONDO:0018025 biolink:NamedThing chronic actinic dermatitis tmpak2llvmy_mondo_relaxed.owl chronic photosensitivity dermatitis|actinic reticuloid ICD10:L57.8|SCTID:52636001|UMLS:C1510437|Orphanet:330064|ICD9:692.73 owl:Class N37785c9d77344e0c98b6e81ef6a81137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl PATO:0015025 biolink:NamedThing decreased porosity An decrease in porosity. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410050 biolink:NamedThing anorectum A subdivision of the digestive tract in humans that includes the rectum, the anal canal and the anus. tmpak2llvmy_mondo_relaxed.owl anorectal canal owl:Class UBERON:0010172 biolink:NamedThing bulb of aorta The portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles tmpak2llvmy_mondo_relaxed.owl root of aorta|aortic root|supraaortic valve area|aortic bulb|bulbus aortae|bulb of ascending aorta|aorta bulb owl:Class UBERON:0001496 biolink:NamedThing ascending aorta The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia] tmpak2llvmy_mondo_relaxed.owl pars ascendens aortae|aorta ascendens|ascending thoracic aorta owl:Class CHEBI:50733 biolink:NamedThing nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. tmpak2llvmy_mondo_relaxed.owl Food Supplementation|Nutritional supplement|Dietary Supplement owl:Class UBERON:0010253 biolink:NamedThing 1st arch maxillary mesenchyme from neural crest Mesenchyme that develops_from a neural crest and is part of a 1st arch maxillary mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011102 biolink:NamedThing autosomal dominant nonsyndromic deafness 12 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in tecta|deafness, autosomal dominant 8|DFNA8|deafness, autosomal dominant 12|autosomal dominant deafness 8|autosomal dominant nonsyndromic deafness caused by mutation in TECTA|DFNA12|autosomal dominant nonsyndromic deafness type 12|autosomal dominant nonsyndromic deafness 12|deafness, autosomal dominant type 12|TECTA autosomal dominant nonsyndromic deafness|autosomal dominant deafness 12|tecta autosomal dominant nonsyndromic deafness DOID:0110544|UMLS:C1832187|MESH:C563295|ICD10:H90.3|OMIM:601543 owl:Class HGNC:11720 biolink:NamedThing TECTA tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001873 biolink:NamedThing Thrombocytopenia A reduction in the number of circulating thrombocytes. tmpak2llvmy_mondo_relaxed.owl Low platelet count SNOMEDCT_US:415116008|MSH:D013921|SNOMEDCT_US:302215000|UMLS:C0392386|UMLS:C0040034 Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0004838|HP:0008175|HP:0008268|HP:0001906|HP:0008302 human_phenotype owl:Class MONDO:0008856 biolink:NamedThing immunodeficiency 27A tmpak2llvmy_mondo_relaxed.owl atypical mycobacterial infection, disseminated|immunodeficiency type 27A|atypical mycobacteriosis, familial|IMD27A|immunodeficiency 27A|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|mycobacterial disease, Mendelian susceptibility to|IFNGR1 deficiency, autosomal recessive|atypical mycobacterial infection, familial disseminated GARD:0009185|UMLS:C4011949|OMIM:209950 owl:Class UBERON:0001259 biolink:NamedThing mucosa of urinary bladder the mucous membrane lining the urinary bladder tmpak2llvmy_mondo_relaxed.owl tunica mucosa vesicae urinariae|bladder mucous membrane|mucosa of bladder|bladder organ mucosa|mucous membrane of bladder|bladder mucosa|mucous membrane of urinary bladder|urinary bladder mucosa|tunica mucosa (vesica urinaria)|tunica mucosa vesicae|urinary bladder mucous membrane owl:Class UBERON:0002200 biolink:NamedThing vasculature of head Vasculature that is part of a head [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vascular network of adult head|head vascular network|adult head vasculature|vascular network of head|adult head vascular network|vasculature of adult head|head vasculature|cranial vasculature owl:Class MONDO:0020607 biolink:NamedThing Liddle syndrome 1 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. tmpak2llvmy_mondo_relaxed.owl Liddle syndrome|Liddle syndrome caused by mutation in SCNN1B|LIDLS1|SCNN1B Liddle syndrome|Pseudoaldosteronism|Liddle syndrome 1 OMIM:177200 owl:Class HGNC:10600 biolink:NamedThing SCNN1B tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:18248 biolink:NamedThing iron atom An iron group element atom that has atomic number 26. tmpak2llvmy_mondo_relaxed.owl Eisen|Iron|26Fe|Fe|ferrum|hierro|iron|fer owl:Class UBERON:0007373 biolink:NamedThing inferior surface of tongue The lower (inferior) side of the tongue. tmpak2llvmy_mondo_relaxed.owl ventrum linguae|ventral surface of tongue owl:Class MONDO:0014499 biolink:NamedThing intellectual disability, autosomal recessive 46 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. tmpak2llvmy_mondo_relaxed.owl MRT46|NDST1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|intellectual disability, autosomal recessive type 46|mental retardation, autosomal recessive 46|intellectual disability, autosomal recessive 46|mental retardation, autosomal recessive type 46 OMIM:616116|UMLS:C4015283 owl:Class HGNC:7680 biolink:NamedThing NDST1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012437 biolink:NamedThing epithelial-mesenchymal boundary A anatomical line that adjacent_to a epithelium and adjacent_to a mesenchyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008844 biolink:NamedThing gubernaculum (female) A gubernaculum that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl female gubernaculum|gubernaculum ovarii owl:Class CHEBI:35475 biolink:NamedThing non-steroidal anti-inflammatory drug An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. tmpak2llvmy_mondo_relaxed.owl non-steroidal anti-inflammatory agent|NSAID|non-steroidal anti-inflammatory drugs|NSAIDs owl:Class GO:0030224 biolink:NamedThing monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. tmpak2llvmy_mondo_relaxed.owl monocyte cell differentiation owl:Class MONDO:0100442 biolink:NamedThing RP2 retinopathy A retinopathy caused by variants in the X-linked gene, RP2. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 2|retinitis pigmentosa type 2|retinitis pigmentosa caused by mutation in RP2|RP2 retinopathy|RP2 retinitis pigmentosa|RP2 owl:Class ECTO:0000750 biolink:NamedThing exposure to biomarker An exposure to biomarker. tmpak2llvmy_mondo_relaxed.owl exposure to biomarker owl:Class MONDO:0012318 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl Clls1|leukemia, chronic lymphocytic, susceptibility to, type 1|leukemia, chronic lymphocytic, susceptibility to, 1 OMIM:609630 owl:Class MONDO:0024552 biolink:NamedThing linear skin defects with multiple congenital anomalies 1 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene. tmpak2llvmy_mondo_relaxed.owl HCCS microphthalmia with linear skin defects syndrome|linear skin defects with multiple congenital anomalies 1|Midas syndrome|microphthalmia with linear skin defects|microphthalmia, dermal aplasia, and sclerocornea|LSDMCA1|microphthalmia with linear skin defects syndrome caused by mutation in HCCS|microphthalmia, syndromic 7 OMIM:309801 Editor note: this is in two OMIMPSs, see notes on parent owl:Class HGNC:4837 biolink:NamedThing HCCS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011984 biolink:NamedThing synpolydactyly type 2 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. tmpak2llvmy_mondo_relaxed.owl synpolydactyly, Debeer type|FBLN1 non-syndromic synpolydactyly|synpolydactyly 2|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|SPD2|synpolydactyly type 2|non-syndromic synpolydactyly caused by mutation in FBLN1|SD2b|SPD, Debeer type|SD2, Debeer type ICD10:Q70.0|OMIM:608180|MESH:C564278|UMLS:C1842422|Orphanet:295197|ICD10:Q70.2 owl:Class HGNC:3600 biolink:NamedThing FBLN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003560 biolink:NamedThing spinal cord arachnoid mater An arachnoid mater that is part of a spinal cord [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arachnoid mater of spinal cord|arachnoid mater of neuraxis of spinal cord|spinal cord arachnoid mater of neuraxis|spinal cord arachnoid|arachnoid of spinal cord owl:Class MONDO:0006202 biolink:NamedThing extrahepatic bile duct adenosquamous carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpak2llvmy_mondo_relaxed.owl adenosquamous bile duct carcinoma|bile duct adenosquamous carcinoma|extrahepatic bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous carcinoma of bile duct NCIT:C5778|EFO:1000247 owl:Class OBO:CHR_9606-chr16q biolink:NamedThing chr16q (Human) tmpak2llvmy_mondo_relaxed.owl 90338345 36800000 hg38 owl:Class GO:0030221 biolink:NamedThing basophil differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. tmpak2llvmy_mondo_relaxed.owl basophil cell differentiation owl:Class MONDO:0017357 biolink:NamedThing transient hyperammonemia of the newborn tmpak2llvmy_mondo_relaxed.owl UMLS:CN203020|ICD10:P74.8|Orphanet:289877 owl:Class UBERON:0017163 biolink:NamedThing skin bony tubercle A bony structure embedded in skin, roughly equivalent to osteoderms. tmpak2llvmy_mondo_relaxed.owl bony tubercles|bony tubercle owl:Class CL:0000255 biolink:NamedThing eukaryotic cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0004736 biolink:NamedThing metanephric glomerulus glomerulus of the mature vertebrate kidney, or metanephros. tmpak2llvmy_mondo_relaxed.owl glomerulus of metanephros owl:Class GO:0070470 biolink:NamedThing plasma membrane respirasome A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpak2llvmy_mondo_relaxed.owl plasma membrane electron transport chain|plasma membrane respiratory chain owl:Class MONDO:0013500 biolink:NamedThing immunodeficiency 51 tmpak2llvmy_mondo_relaxed.owl candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 5, formerly|candidiasis, familial, type 5|candidiasis, familial, 5|immunodeficiency 51|CANDF5|IMD51 UMLS:C3151402|UMLS:C4310803|OMIM:613953 owl:Class MONDO:0019199 biolink:NamedThing interstitial granulomatous dermatitis with arthritis Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. tmpak2llvmy_mondo_relaxed.owl Ackerman dermatitis syndrome|IGDA Orphanet:79099|UMLS:CN205782 owl:Class MONDO:0004373 biolink:NamedThing adult papillary meningioma A papillary meningioma occurring in adults. tmpak2llvmy_mondo_relaxed.owl papillary meningioma|adult papillary meningioma|papillary meningioma of adults DOID:7826|NCIT:C8293|UMLS:C0281334 owl:Class MONDO:0003978 biolink:NamedThing colon small cell neuroendocrine carcinoma An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl colonic Oat cell carcinoma|colonic small cell carcinoma|colon small cell neuroendocrine cancer|small cell carcinoma of colon|Oat cell carcinoma of the colon|small cell carcinoma of the colon|colon small cell neuroendocrine carcinoma|Oat cell carcinoma of colon|colon small cell carcinoma|small cell colon carcinoma|Oat cell colon carcinoma|colon Oat cell carcinoma NCIT:C6761|UMLS:C1333099|DOID:6727 owl:Class UBERON:0001958 biolink:NamedThing terminal bronchiole epithelium An epithelium that lines a terminal bronchiole. tmpak2llvmy_mondo_relaxed.owl terminal bronchiole epithelium|terminal bronchiole epithelial tissue|epithelium of bronchiolus terminalis|bronchiolus terminalis epithelial tissue|epithelial tissue of terminal bronchiole|epithelium of terminal bronchiole|epithelial tissue of bronchiolus terminalis|bronchiolus terminalis epithelium owl:Class HGNC:18305 biolink:NamedThing ATP6AP2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000440 biolink:NamedThing melanocyte stimulating hormone secreting cell A cell of the intermediate pituitary that produces melanocyte stimulating hormone. tmpak2llvmy_mondo_relaxed.owl melanotroph|melanotrope BTO:0002277 cell owl:Class GO:0036160 biolink:NamedThing melanocyte-stimulating hormone secretion The regulated release of a melanocyte-stimulating hormone, any of a group of peptide hormones that are produced by cells in the intermediate lobe of the pituitary gland, and stimulate the production of melanin to increase pigmentation. tmpak2llvmy_mondo_relaxed.owl MSH secretion owl:Class GO:0015152 biolink:NamedThing glucose-6-phosphate transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012003 biolink:NamedThing autosomal recessive nonsyndromic deafness 39 An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 39|HGF autosomal recessive nonsyndromic deafness|autosomal recessive deafness 39|deafness, autosomal recessive type 39|DFNB39|autosomal recessive nonsyndromic deafness 39|autosomal recessive nonsyndromic deafness type 39|autosomal recessive nonsyndromic deafness caused by mutation in HGF MESH:C564265|DOID:0110497|NCIT:C129874|UMLS:C1842342|ICD10:H90.3|OMIM:608265 owl:Class HGNC:4893 biolink:NamedThing HGF tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904659 biolink:NamedThing glucose transmembrane transport The process in which glucose is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl glucose transport owl:Class MONDO:0022991 biolink:NamedThing diploid-triploid mosaicism Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. tmpak2llvmy_mondo_relaxed.owl diploid/triploid mosaicism|diploid/triploid mixoploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|Mosaic triploidy MESH:C548012|SCTID:10177005|ICD9:758.89|UMLS:C0265505|GARD:0010715 https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism owl:Class MONDO:0008867 biolink:NamedThing biliary atresia A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. tmpak2llvmy_mondo_relaxed.owl congenital biliary atresia|atresia of bile ducts|isolated atresia of bile ducts|atresia of bile duct|non-syndromic biliary atresia|isolated biliary atresia|biliary atresia, congenital MESH:D001656|GARD:0012010|SCTID:77480004|Orphanet:30391|UMLS:C0005411|DOID:13608|ICD10:Q44.2|ICD9:751.61|MedDRA:10003650|NCIT:C34421 https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia owl:Class HP:0005912 biolink:NamedThing Biliary atresia Atresia of the biliary tree. tmpak2llvmy_mondo_relaxed.owl Biliary duct atresia SNOMEDCT_US:82821008|UMLS:C0005411|MSH:D001656|SNOMEDCT_US:77480004 peter 2008-03-27T02:07:00Z human_phenotype owl:Class HGNC:18801 biolink:NamedThing POGZ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011422 biolink:NamedThing autosomal recessive proximal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. tmpak2llvmy_mondo_relaxed.owl AR pRTA|RTA, proximal, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|proximal renal tubular acidosis, autosomal recessive|proximal renal tubular acidosis with ocular abnormalities and intellectual disability MESH:C567038|Orphanet:93607|OMIM:604278|UMLS:C1970309 owl:Class GO:0035773 biolink:NamedThing insulin secretion involved in cellular response to glucose stimulus The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. tmpak2llvmy_mondo_relaxed.owl insulin secretion involved in cellular response to glucose owl:Class UBERON:0001045 biolink:NamedThing midgut Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. tmpak2llvmy_mondo_relaxed.owl mesenteron owl:Class UBERON:0009653 biolink:NamedThing trachea basement membrane A basement membrane that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022604 biolink:NamedThing regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. tmpak2llvmy_mondo_relaxed.owl positive regulation of cell shape and cell size|regulation of cell shape and cell size|negative regulation of cell shape and cell size owl:Class UBERON:0036269 biolink:NamedThing penis blood vessel tmpak2llvmy_mondo_relaxed.owl vasculature of penis|penis vasculature owl:Class GO:0120031 biolink:NamedThing plasma membrane bounded cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpak2llvmy_mondo_relaxed.owl eupodium owl:Class MONDO:0001025 biolink:NamedThing seminal vesicle chronic gonorrhea Chronic form of gonococcal seminal vesiculitis. tmpak2llvmy_mondo_relaxed.owl gonococcal seminal vesiculitis, chronic|chronic gonococcal seminal vesiculitis ICD9:098.34|SCTID:23975003|DOID:10399|UMLS:C0153205 owl:Class MONDO:0012652 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2L A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2L|LGMD2L|limb-girdle muscular dystrophy type 2L|ANO5 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5 DOID:0110284|MESH:C566968|UMLS:C1969785|GARD:0012536|ICD10:G71.0|Orphanet:206549|OMIM:611307 owl:Class UBERON:0003214 biolink:NamedThing mammary gland alveolus A sac-like structure that is found in the mature gland[GO]. tmpak2llvmy_mondo_relaxed.owl mammary alveoli|alveolus of lobe of breast|mammary alveolus|alveolus of lactiferous gland|lobe of mammary gland alveolus|lactiferous alveolus|lactiferous gland alveolus|alveolus of lobe of mammary gland|lobe of breast alveolus|alveolus of mammary gland owl:Class MONDO:0002173 biolink:NamedThing neuroma A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. tmpak2llvmy_mondo_relaxed.owl ICDO:9570/0|NCIT:C3275|DOID:2001|ICD9:215.9|UMLS:C0027858|MESH:D009463|SCTID:443892003 Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split owl:Class GO:0008380 biolink:NamedThing RNA splicing The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpak2llvmy_mondo_relaxed.owl pre-mRNA splicing factor activity owl:Class NCBITaxon:6259 biolink:NamedThing Baylisascaris procyonis tmpak2llvmy_mondo_relaxed.owl raccoon roundworm GC_ID:1 ncbi_taxonomy owl:Class HGNC:23157 biolink:NamedThing ALG6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004645 biolink:NamedThing cheek mucosa cancer A malignant neoplasm involving the buccal mucosa. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of buccal mucosa|malignant neoplasm of cheek, inner aspect|cancer of buccal mucosa|malignant tumor of the buccal mucosa|malignant buccal mucosa neoplasm|buccal mucosa cancer|malignant neoplasm of the buccal mucosa|malignant tumor of buccal mucosa|malignant buccal mucosa tumor ICD10:C06.0|SCTID:363386008|DOID:8702|UMLS:C0153373|ICD9:145.0|NCIT:C9320 owl:Class UBERON:0006956 biolink:NamedThing buccal mucosa The inner lining of the cheeks and lips. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013879 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 tmpak2llvmy_mondo_relaxed.owl PFBMFT2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2 OMIM:614743|UMLS:C3553622 owl:Class FOODON:00002044 biolink:NamedThing mollusc food product tmpak2llvmy_mondo_relaxed.owl mollusk food product owl:Class FOODON:03412112 biolink:NamedThing mollusc *Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca] tmpak2llvmy_mondo_relaxed.owl mollusk|Mollusca owl:Class HGNC:4296 biolink:NamedThing GLA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014304 biolink:NamedThing hereditary spastic paraplegia 61 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. tmpak2llvmy_mondo_relaxed.owl autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|spastic paraplegia 61, autosomal recessive|SPG61|ARL6IP1 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia 61|autosomal recessive spastic paraplegia type 61|hereditary spastic paraplegia type 61|autosomal recessive spastic paraplegia 61 UMLS:C4511962|DOID:0110812|UMLS:C3810294|OMIM:615685|Orphanet:401780|SCTID:726611001|ICD10:G11.4 owl:Class UBERON:0000173 biolink:NamedThing amniotic fluid Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. tmpak2llvmy_mondo_relaxed.owl acqua amnii|liquor amnii owl:Class MONDO:0005963 biolink:NamedThing sparganosis A condition resulting from infection with the second stage larvae of the parasite Spirometra. tmpak2llvmy_mondo_relaxed.owl Spirometra infectious disease|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|infection by sparganum|Spirometra disease or disorder EFO:0007488|SCTID:31659000|MESH:D013031|NCIT:C35030|UMLS:C0037753|ICD10:B70.1|ICD9:123.5|DOID:10080 owl:Class NCBITaxon:46580 biolink:NamedThing Spirometra tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003931 biolink:NamedThing diencephalic white matter White matter that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl predominantly white regional part of diencephalon|diencephalic tracts and commissures|diencephalic tract/commissure|white matter of diencephalon owl:Class UBERON:0007690 biolink:NamedThing early pharyngeal endoderm . tmpak2llvmy_mondo_relaxed.owl pharyngeal region endoderm|pharyngeal endoderm|early pharyngeal arch endoderm|pharyngeal arch endoderm owl:Class MONDO:0045019 biolink:NamedThing lactation disease tmpak2llvmy_mondo_relaxed.owl lactation disease|disorder of lactation UMLS:C0022927|SCTID:35046003 owl:Class UBERON:0004146 biolink:NamedThing His-Purkinje system The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles tmpak2llvmy_mondo_relaxed.owl His-Purkinji network|HPS|ventricular conduction system|VCS owl:Class UBERON:0034923 biolink:NamedThing disconnected anatomical group Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000398 biolink:NamedThing endothelial cell of hepatic sinusoid An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates. tmpak2llvmy_mondo_relaxed.owl endotheliocyte of hepatic sinusoid|LSEC|liver sinusoidal endothelial cell BTO:000125|FMA:62911 cell owl:Class UBERON:0003232 biolink:NamedThing epithelium of knee An epithelium that is part of a knee [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of knee|knee epithelial tissue|knee epithelium owl:Class MONDO:0006645 biolink:NamedThing alcoholic polyneuropathy Any disease affecting more than one nerve. tmpak2llvmy_mondo_relaxed.owl alcohol-related polyneuropathy|alcoholic neuropathy EFO:1000803|ICD10:G62.1|UMLS:C0085677|MESH:D020269|ICD9:357.5|SCTID:7916009|DOID:14183|NCIT:C26926 owl:Class UBERON:0014531 biolink:NamedThing white matter lamina of diencephalon tmpak2llvmy_mondo_relaxed.owl diencephalon lamina|lamina of diencephalon owl:Class MONDO:0012894 biolink:NamedThing osteoarthritis susceptibility 6 tmpak2llvmy_mondo_relaxed.owl OS6|osteoarthritis susceptibility 6|osteoarthritis of knee OMIM:612401|ICD9:715.96|SCTID:239873007|UMLS:C0409959 owl:Class MONDO:0011085 biolink:NamedThing Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 4D|NMSL|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth neuropathy, type 4D|neuropathy, hereditary motor and sensory, Lom type|HMSN4D|NDRG1 Charcot-Marie-Tooth disease type 4|CMT4D|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|HMSN Lom type|Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|hereditary motor ABD sensory neuropathy Lom type|HMSN-Lom|hereditary motor and sensory neuropathy, Lom type|Charcot-Marie-Tooth neuropathy type 4D|HMSN, Lom type|HMSNL MESH:C535716|OMIM:601455|UMLS:C1832334|ICD10:G60.0|Orphanet:99950|DOID:0110186|SCTID:715798007|GARD:0003973 https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d owl:Class OBO:CHR_9606-chr4q25 biolink:NamedThing chr4q25 (Human) tmpak2llvmy_mondo_relaxed.owl 113200000 106700000 hg38 owl:Class OBO:CHR_9606-chr4q2 biolink:NamedThing chr4q2 (Human) tmpak2llvmy_mondo_relaxed.owl 138500000 75300000 hg38 owl:Class MONDO:0036915 biolink:NamedThing benign ovarian mucinous tumor A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. tmpak2llvmy_mondo_relaxed.owl ovarian mucinous neoplasm, benign|benign ovarian mucinous neoplasm|benign ovarian mucinous tumor NCIT:C40039|EFO:1000115|UMLS:C1511100 owl:Class MONDO:0003893 biolink:NamedThing rete testis adenoma A benign epithelial neoplasm arising from the rete testis. tmpak2llvmy_mondo_relaxed.owl adenoma, rete testis, benign|rete testis adenoma DOID:6483|NCIT:C39956|UMLS:C1514910 owl:Class MONDO:0017838 biolink:NamedThing sclerosteosis Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. tmpak2llvmy_mondo_relaxed.owl cortical hyperostosis with syndactyly|cortical hyperostosis-syndactyly syndrome MESH:C537525|ICD9:756.59|NCIT:C131133|OMIMPS:269500|DOID:0060251|ICD10:M85.2|UMLS:C0265301|SCTID:17568006|Orphanet:3152|GARD:0004771 owl:Class CL:0000613 biolink:NamedThing basophil progenitor cell A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa. tmpak2llvmy_mondo_relaxed.owl CFU-Bas|basophilic stem cell|BaP|colony forming unit basophil BaP are also CD13-low and integrin beta-7-low. They are lin-negative (CD2, CD3e, CD4, CD5, CD8, CD11b, CD14, CD19, CD20, ly6g, ly76, and NCAM-1). They also lack expression of mast cell protease 1 (MCP-1) and microphthalmia-associated transcription factor (mitf). cell owl:Class CL:0002028 biolink:NamedThing basophil mast progenitor cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa tmpak2llvmy_mondo_relaxed.owl BMCP There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. tmeehan 2010-04-27T12:46:33Z cell owl:Class UBERON:0005624 biolink:NamedThing suprarenal artery Artery that supplies blood to the adrenal glands. tmpak2llvmy_mondo_relaxed.owl adrenal artery owl:Class UBERON:0004455 biolink:NamedThing neurula embryo An embryo at the neurula stage. tmpak2llvmy_mondo_relaxed.owl neurula owl:Class HP:0001370 biolink:NamedThing Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. tmpak2llvmy_mondo_relaxed.owl Rheumatoid arthritis|RA MSH:D001172|SNOMEDCT_US:69896004|UMLS:C0003873 human_phenotype owl:Class UBERON:0007307 biolink:NamedThing pronephric glomerular basement membrane A glomerular basement membrane that is part of a pronephros. tmpak2llvmy_mondo_relaxed.owl pronephric glomerular filtration membrane owl:Class UBERON:0004739 biolink:NamedThing pronephric glomerulus The glomus forms from the splanchnic intermediate mesoderm and is the vascularized filtration unit, filtering the blood before it enters the tubules. The glomus is external to the nephron and extends over more than one body segment. tmpak2llvmy_mondo_relaxed.owl pronephric glomeruli|corpuscle|glomera|glomerulus of pronephros|glomus|pronephric glomus|pronephric glomera owl:Class MONDO:0008143 biolink:NamedThing osteoarthritis susceptibility 1 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. tmpak2llvmy_mondo_relaxed.owl osteoarthritis susceptibility type 1|osteoarthritis caused by mutation in FRZB|OS1|osteoarthritis of hip, female-specific, susceptibility to|Oa|osteoarthritis susceptibility 1|FRZB osteoarthritis|osteoarthrosis ICD9:715.90|OMIM:165720|ICD9:715.98 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class UBERON:0015128 biolink:NamedThing subepicardial layer of epicardium tmpak2llvmy_mondo_relaxed.owl perimysial connective tissue of subepicardium|subepicardial connective tissue owl:Class N73e2384781af4f678acb9e5ddf5ab3f6 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002761 biolink:NamedThing cervical verrucous carcinoma A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. tmpak2llvmy_mondo_relaxed.owl cervical verrucous carcinoma|uterine cervix verrucous carcinoma UMLS:C1516435|NCIT:C40190|DOID:3743 owl:Class MONDO:0011946 biolink:NamedThing diaphanospondylodysostosis Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. tmpak2llvmy_mondo_relaxed.owl vertebral ossification, defect in, with nephrogenic rests|diaphanospondylodysostosis Orphanet:66637|UMLS:C1842691|SCTID:721094006|ICD10:Q78.8|MESH:C564305|OMIM:608022 owl:Class CL:0000558 biolink:NamedThing reticulocyte An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0864|BTO:0001173 cell owl:Class CL:0002107 biolink:NamedThing IgD-negative CD38-positive IgG memory B cell An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0033946 biolink:NamedThing hereditary angioedema with C1Inh deficiency Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. tmpak2llvmy_mondo_relaxed.owl C1 esterase inhibitor, deficiency of|angioedema, hereditary, type 1/2|angioneurotic edema, hereditary|angioedema, hereditary, type 2|angioedema, hereditary, type I|angioedema, hereditary, type 1|HAE1 Orphanet:528623|OMIM:106100 owl:Class UBERON:0016398 biolink:NamedThing lymph node of lower limb A lymph node that is part of a hindlimb. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013896 biolink:NamedThing Joubert syndrome 18 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. tmpak2llvmy_mondo_relaxed.owl TCTN3 Joubert syndrome|JBTS18|Joubert syndrome type 18|Joubert syndrome caused by mutation in TCTN3|Joubert syndrome 18 OMIM:614815|DOID:0110987|UMLS:C3553758 owl:Class MONDO:0012320 biolink:NamedThing migraine, familial hemiplegic, 3 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene. tmpak2llvmy_mondo_relaxed.owl FHM3|migraine, familial hemiplegic, 3|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|SCN1A familial or sporadic hemiplegic migraine|migraine, familial hemiplegic, type 3 GARD:0010974|DOID:0111183|OMIM:609634|UMLS:C1864987|MESH:C566500 owl:Class NCBITaxon:12721 biolink:NamedThing Human immunodeficiency virus tmpak2llvmy_mondo_relaxed.owl AIDS virus|HIV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012164 biolink:NamedThing Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. tmpak2llvmy_mondo_relaxed.owl Meacham Winn Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Meacham-Winn-Culler syndrome|Meacham syndrome|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome SCTID:722461004|ICD10:Q87.8|UMLS:C1837026|GARD:0003432|Orphanet:3097|OMIM:608978 owl:Class MONDO:0011565 biolink:NamedThing metabolic syndrome X tmpak2llvmy_mondo_relaxed.owl dysmetabolic syndrome X|abdominal obesity-metabolic syndrome 1|metabolic syndrome type X|abdominal obesity-metabolic syndrome quantitative trait locus 1|abdominal obesity metabolic syndrome|metabolic syndrome, protection against|metabolic syndrome 10|AOMS1 ICD9:277.7|GARD:0009226|DOID:14221|SCTID:237602007|OMIM:605552|MESH:D024821|UMLS:C0524620|ICD10:E88.81 owl:Class MONDO:0014305 biolink:NamedThing hereditary spastic paraplegia 63 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 63|autosomal recessive spastic paraplegia 63|spastic paraplegia 63|SPG63|AMPD2 autosomal recessive complex spastic paraplegia|spastic paraplegia 63, autosomal recessive|autosomal recessive spastic paraplegia type 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 DOID:0110814|SCTID:726610000|UMLS:C3810295|Orphanet:401805|OMIM:615686|ICD10:G11.4 owl:Class OBO:CHR_9606-chr1p3 biolink:NamedThing chr1p3 (Human) tmpak2llvmy_mondo_relaxed.owl 84400000 0 hg38 owl:Class MONDO:0003294 biolink:NamedThing pericardium leiomyoma A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl pericardial leiomyoma|pericardium leiomyoma|leiomyoma of the pericardium|leiomyoma of pericardium UMLS:C1335380|NCIT:C6743|DOID:5137 owl:Class HP:0010442 biolink:NamedThing Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. tmpak2llvmy_mondo_relaxed.owl More than five fingers or toes on hands or feet Fyler:4103|SNOMEDCT_US:367506006|UMLS:C0152427|MSH:D017689 doelkens 2009-07-29T01:39:27Z HP:0006034|HP:0009605|HP:0006046|HP:0006123 human_phenotype owl:Class MONDO:0014844 biolink:NamedThing premature ovarian failure 12 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 12; POF12|primary ovarian failure caused by mutation in SYCE1|premature ovarian failure 12|SYCE1 primary ovarian failure|premature ovarian failure type 12|POF12 OMIM:616947|UMLS:C4310782 owl:Class UBERON:0005086 biolink:NamedThing hair follicle placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. tmpak2llvmy_mondo_relaxed.owl hair gem|hair peg|hair germ|hair placode|vibrissa placode owl:Class UBERON:0011272 biolink:NamedThing embryonic skin basal layer tmpak2llvmy_mondo_relaxed.owl outer epithelium of body|basal cell layer of skin owl:Class MONDO:0008597 biolink:NamedThing trichorhinophalangeal syndrome, type III A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. tmpak2llvmy_mondo_relaxed.owl TRPS 3|trichorhinophalangeal syndrome, type III|trichorhinophalangeal syndrome type 3|TRPS3|Sugio-Kajii syndrome|trichorhinophalangeal syndrome, type 3 GARD:0007802|DOID:0080376|UMLS:C1860823|OMIM:190351 owl:Class HGNC:12340 biolink:NamedThing TRPS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018504 biolink:NamedThing undifferentiated carcinoma of stomach A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. tmpak2llvmy_mondo_relaxed.owl undifferentiated carcinoma of the stomach|undifferentiated gastric (stomach) cancer|anaplastic carcinoma of the stomach|Gastric undifferentiated carcinoma|undifferentiated carcinoma of stomach|anaplastic carcinoma of stomach|stomach undifferentiated carcinoma|undifferentiated gastric carcinoma|undifferentiated stomach adenocarcinoma|anaplastic gastric carcinoma ICD10:C16.2|ONCOTREE:USTAD|UMLS:CN237509|ICD10:C16.1|ICD10:C16.6|ICD10:C16.0|UMLS:C1336858|ICD10:C16.8|ICD10:C16.5|Orphanet:423786|SCTID:766757006|ICD10:C16.3|NCIT:C5476|ICD10:C16.4 owl:Class HGNC:37276 biolink:NamedThing CRPPA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6091 biolink:NamedThing INSR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014145 biolink:NamedThing Leber congenital amaurosis 17 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis type 17|Leber congenital amaurosis caused by mutation in GDF6|LCA17|Leber congenital amaurosis 17|GDF6 Leber congenital amaurosis UMLS:C3715164|DOID:0110217|OMIM:615360|ICD10:H35.5 owl:Class UBERON:0010905 biolink:NamedThing clavicle bone primordium A primordium that develops into a clavicle bone. tmpak2llvmy_mondo_relaxed.owl clavicle primordium owl:Class MONDO:0006081 biolink:NamedThing anal melanoma A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of anus|anus melanoma|melanoma of anus|melanoma (disease) of anus|malignant melanoma of the anus|malignant anus melanoma|anal melanoma|anus melanoma (disease)|melanoma of the anus|anal malignant melanoma EFO:1000080|SCTID:276821000|UMLS:C0349538|DOID:14145|ONCOTREE:ARMM|NCIT:C4639 Editor note: TODO relationship to mucosa owl:Class MONDO:0003995 biolink:NamedThing vulvar childhood botryoid-type embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl childhood botryoid rhabdomyosarcoma of mammalian vulva|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva|childhood sarcoma Botryoides of the vulva|mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma UMLS:C1332946|DOID:6789|NCIT:C36098 owl:Class MONDO:0010053 biolink:NamedThing hereditary spherocytosis type 3 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpak2llvmy_mondo_relaxed.owl spherocytosis, hereditary, 3|SPTA1 hereditary spherocytosis|hereditary spherocytosis 3|SPH3|spherocytosis, type 3|hereditary spherocytosis caused by mutation in SPTA1|HS3 DOID:0110918|MESH:C567489|UMLS:C2678338|OMIM:270970 owl:Class HGNC:4912 biolink:NamedThing HINT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6412 biolink:NamedThing KRT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100052 biolink:NamedThing acetazolamide-responsive hereditary episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. tmpak2llvmy_mondo_relaxed.owl 2018-07-25 17:53:07+00:00 owl:Class MONDO:0001293 biolink:NamedThing subglottis cancer A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl malignant tumor of subglottis|cancer of subglottis|malignant tumor of the subglottis|malignant subglottis tumor|malignant subglottis neoplasm|malignant subglottic neoplasm|subglottis cancer|malignant neoplasm of subglottis|malignant neoplasm of the subglottis|malignant subglottic tumor|Ca larynx - subglottis DOID:11472|ICD9:161.2|NCIT:C3546|ICD10:C32.2|UMLS:C0153485|SCTID:363430007 owl:Class UBERON:0002033 biolink:NamedThing arrector muscle of hair A tiny smooth muscle that connects the hair follicle with the dermis. tmpak2llvmy_mondo_relaxed.owl arrector pili|arrector pilorum muscle of hair|arrector pili smooth muscle|arrector pilorum|erector pili|erectores pilorum|arrector pilli muscle|arectores pilorum|arrector pilli|pilomotor muscle|arrector pili muscle owl:Class ENVO:01000996 biolink:NamedThing human-directed construction process An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018602 biolink:NamedThing necrotizing soft tissue infection tmpak2llvmy_mondo_relaxed.owl NSTI Orphanet:440368|UMLS:C2732890|ICD10:M72.6|ICD9:136.9|UMLS:CN237632|ICD9:729.99|SCTID:443928008 owl:Class MONDO:0013884 biolink:NamedThing neuronopathy, distal hereditary motor, type 5B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene. tmpak2llvmy_mondo_relaxed.owl neuronopathy, distal hereditary motor caused by mutation in REEP1|dHMN 5B|HMN 5B|HMN5B|neuropathy, distal hereditary motor, type 5B|spinal muscular atrophy, distal, type 5B|REEP1 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type VB OMIM:614751|UMLS:C3553656|DOID:0111205 owl:Class HGNC:15625 biolink:NamedThing NBAS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002909 biolink:NamedThing hyperglycemia Abnormally high level of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl ICD9:790.6|SCTID:80394007|MESH:D006943|DOID:4195|ICD10:R73.9|UMLS:C0020456 owl:Class HP:0003074 biolink:NamedThing Hyperglycemia An increased concentration of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl High blood glucose|High blood sugar SNOMEDCT_US:237598005|SNOMEDCT_US:80394007|UMLS:C0020456|MSH:D006943 human_phenotype owl:Class UBERON:0014903 biolink:NamedThing primordial vasculature A portion of tissue that will develop into vasculature. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011695 biolink:NamedThing embryonic cardiovascular system A cardiovascular system that is part of a conceptus. tmpak2llvmy_mondo_relaxed.owl fetal circulatory system|embryonic circulatory system|conceptus cardiovascular system owl:Class MONDO:0015289 biolink:NamedThing infectious epithelial keratitis Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. tmpak2llvmy_mondo_relaxed.owl Orphanet:137593 owl:Class MONDO:0001062 biolink:NamedThing pyloric antrum cancer A malignant neoplasm involving the pyloric antrum. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of antrum of stomach|cancer of pyloric antrum|pyloric antrum cancer|malignant tumor of pyloric antrum|malignant neoplasm of pyloric antrum|malignant pyloric antrum neoplasm UMLS:C0153419|SCTID:187740000|ICD9:151.2|ICD10:C16.3|DOID:10547 owl:Class MONDO:0004153 biolink:NamedThing childhood central nervous system embryonal carcinoma An embryonal carcinoma that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl embryonal carcinoma of pediatric central nervous system|embryonal carcinoma of the childhood central nervous system|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of pediatric CNS|embryonal carcinoma of the pediatric central nervous system|childhood central nervous system embryonal carcinoma|embryonal carcinoma of childhood CNS|embryonal carcinoma of the pediatric CNS|pediatric CNS embryonal cell carcinoma|embryonal carcinoma of the central nervous system of childhood|embryonal carcinoma of childhood central nervous system|embryonal carcinoma of the childhood CNS|pediatric central nervous system embryonal carcinoma|childhood CNS embryonal cell carcinoma|pediatric embryonal carcinoma of the central nervous system UMLS:C1377605|NCIT:C6208|DOID:7231 owl:Class CL:0000377 biolink:NamedThing tracheoblast tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0013965 biolink:NamedThing lethal congenital contracture syndrome 4 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome type 4|lethal congenital contracture syndrome 4|MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in MYBPC1|LCCS4 UMLS:C3554046|DOID:0060654|OMIM:614915|GARD:0012645 https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 owl:Class HGNC:7549 biolink:NamedThing MYBPC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011095 biolink:NamedThing dilated cardiomyopathy 1D Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpak2llvmy_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, dilated, 1D|cardiomyopathy, dilated, type 1D|dilated cardiomyopathy 1D|CMD1D|TNNT2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1D|left ventricular noncompaction 6 OMIM:601494|ICD10:I42.0|MESH:C563306|DOID:0110426|UMLS:C1832243 owl:Class HGNC:11949 biolink:NamedThing TNNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8975 biolink:NamedThing PIK3CA tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002600 biolink:NamedThing smooth muscle cell of trachea A smooth muscle cell of the trachea. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:50:28Z cell owl:Class UBERON:0008998 biolink:NamedThing vasculature of brain System pertaining to blood vessels in the brain. tmpak2llvmy_mondo_relaxed.owl brain vasculature|cerebrovascular system|intracerebral vasculature owl:Class MONDO:0017441 biolink:NamedThing congenital absence of upper arm and forearm with hand present A congenital malformation in which the upper portion of a limb is either shortened or absent. tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia|phocomelia ICD10:Q71.1|GARD:0012123|SCTID:22841008|Orphanet:294975|NCIT:C34928 owl:Class PO:0009085 biolink:NamedThing exocarp A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084). tmpak2llvmy_mondo_relaxed.owl 外果皮 (Japanese, exact)|portion of exocarp tissue (exact)|exocarpo (Spanish, exact)|outer epidermis of pericarp (related)|epicarp (exact)|pericarp epidermis (related)|fruit epidermis (exact)|ectocarp (exact)|flavedo (exact) PO_GIT:511|PO_GIT:149 PO:0006217|PO:0006046 plant_anatomy owl:Class MONDO:0007620 biolink:NamedThing fish eye disease Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. tmpak2llvmy_mondo_relaxed.owl alpha-lecithin:cholesterol acyltransferase deficiency|partial LCAT deficiency|fed|LCATA deficiency|fish-eye disease|alpha-lecithin cholesterol acyltransferase deficiency|alpha-LCAT deficiency|fish eye disease|dyslipoproteinemic corneal dystrophy GARD:0006450|UMLS:C0342895|ICD10:E78.6|SCTID:238092004|OMIM:136120|Orphanet:79292 https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease owl:Class HGNC:6522 biolink:NamedThing LCAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001052 biolink:NamedThing chronic fungal otitis externa Chronic form of otomycosis. tmpak2llvmy_mondo_relaxed.owl otomycosis, chronic|chronic otomycosis|chronic mycotic otitis externa ICD9:380.15|SCTID:111898002|DOID:10519|UMLS:C0155396 owl:Class MONDO:0013231 biolink:NamedThing Leber congenital amaurosis 14 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene. tmpak2llvmy_mondo_relaxed.owl retinal dystrophy, early-onset Severe, LRAT-related|Leber congenital amaurosis caused by mutation in LRAT|retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis 14|LCA14|Leber congenital amaurosis type 14|LRAT Leber congenital amaurosis ICD10:H35.5|OMIM:613341|GARD:0010883|MESH:C567636|DOID:0110188|UMLS:C2750063 https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14 owl:Class HGNC:6685 biolink:NamedThing LRAT tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16499 biolink:NamedThing RAB39B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001317 biolink:NamedThing internal iliac vein A vein that begins near the upper part of the greater sciatic foramen, passes upward behind and slightly medial to the hypogastric artery and, at the brim of the pelvis, joins with the external iliac to form the common iliac vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl v. hypogastrica|v. iliaca interna|hypogastric vein owl:Class MONDO:0013282 biolink:NamedThing alpha 1-antitrypsin deficiency Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. tmpak2llvmy_mondo_relaxed.owl A1ATD|A-1ATD|AAT deficiency|Alpha-1 antitrypsin deficiency|ALPHA-1-antitrypsin deficiency|alpha 1-antitrypsin deficiency|alpha-1-antitrypsin deficiency|A1AT deficiency|Alpha 1 antitrypsin deficiency|A1AD|AATD|deficiency in Alpa-1-proteinase inhibitor MedDRA:10001806|MESH:D019896|DOID:13372|OMIM:613490|SCTID:30188007|ICD10:E88.0|ICD10:E88.01|GARD:0005784|Orphanet:60|UMLS:C0221757|ICD9:273.4|NCIT:C84397 https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency owl:Class HGNC:8941 biolink:NamedThing SERPINA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010125 biolink:NamedThing future superior salivatory nucleus A gray matter that has the potential to develop into a superior salivatory nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12303 biolink:NamedThing TRIO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010572 biolink:NamedThing occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. tmpak2llvmy_mondo_relaxed.owl occipital horn syndrome|EDS IX (formerly)|Ehlers-Danlos syndrome type IX|EDS IX|Ehlers-Danlos syndrome type 9|EDS9, formerly|X-linked cutis laxa|EDS9|EDS IX, formerly|cutis laxa X-linked|Ehlers-Danlos syndrome, occipital horn type (formerly)|Ehlers-Danlos syndrome, occipital horn type, formerly|cutis laxa, X-linked|cutis laxa, X-linked, formerly|Ehlers-Danlos syndrome, occipital horn type|OHS MESH:C537860|ICD10:E83.0|Orphanet:198|OMIM:304150|GARD:0004017|DOID:0111272|SCTID:59399004 owl:Class GO:0016116 biolink:NamedThing carotenoid metabolic process The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. tmpak2llvmy_mondo_relaxed.owl carotenoid metabolism owl:Class MONDO:0007637 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 1 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpak2llvmy_mondo_relaxed.owl COL8A2 Fuchs' endothelial dystrophy|FECD1|Fuchs' endothelial dystrophy caused by mutation in COL8A2|corneal dystrophy, Fuchs endothelial, type 1|corneal dystrophy, Fuchs endothelial, early-onset|corneal dystrophy, Fuchs endothelial, 1 MESH:C535478|UMLS:C1850959|OMIM:136800 owl:Class HGNC:2216 biolink:NamedThing COL8A2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11773 biolink:NamedThing TGFBR2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003494 biolink:NamedThing respiratory system venule A venule that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl apparatus respiratorius venule|venule of respiratory system|venule of apparatus respiratorius owl:Class HP:0010762 biolink:NamedThing Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. tmpak2llvmy_mondo_relaxed.owl UMLS:C0008487|NCIT:C2947|SNOMEDCT_US:50007008|MSH:D002817 The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. peter 2010-06-25T09:00:39Z human_phenotype owl:Class UBERON:0014649 biolink:NamedThing white matter of medulla oblongata A white matter that is part of a medulla oblongata. tmpak2llvmy_mondo_relaxed.owl white substance of medulla|medullary white matter|white matter of medulla|substantia alba medullae oblongatae owl:Class MONDO:0012314 biolink:NamedThing short QT syndrome type 3 Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene. tmpak2llvmy_mondo_relaxed.owl short QT syndrome caused by mutation in KCNJ2|short QT syndrome type 3|SQT3|KCNJ2 short QT syndrome|short QT syndrome 3 MESH:C566504|UMLS:C1865018|OMIM:609622 owl:Class HGNC:6263 biolink:NamedThing KCNJ2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005775 biolink:NamedThing vacuolar lumen The volume enclosed within the vacuolar membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005773 biolink:NamedThing vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. tmpak2llvmy_mondo_relaxed.owl vacuolar carboxypeptidase Y owl:Class UBERON:0000038 biolink:NamedThing follicular fluid The fluid surrounding the ovum and granulosa cells in the ovarian follicle. tmpak2llvmy_mondo_relaxed.owl liquor folliculi|ovary follicle fluid|antral fluid, ovarian follicle|ovarian follicular fluid|liquor follicularis|ovary follicular fluid owl:Class MONDO:0013153 biolink:NamedThing inflammatory bowel disease 28 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 28, autosomal recessive|inflammatory bowel disease 28|inflammatory bowel disease, early-onset, autosomal recessive|early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease caused by mutation in IL10RA|IBD28|inflammatory bowel disease type 28|IL10RA inflammatory bowel disease MESH:C567728|OMIM:613148|UMLS:C2751053|DOID:0110899 owl:Class UBERON:0004413 biolink:NamedThing proximal epiphysis of radius A proximal epiphysis that is part of a radius [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal end of radius|proximal radial epiphysis|upper end of radius owl:Class MONDO:0008786 biolink:NamedThing pyridoxine-responsive sideroblastic anemia tmpak2llvmy_mondo_relaxed.owl anemia congenital sideroblastic B6-responsive|anemia, congenital sideroblastic, B6-responsive|B6-responsive sideroblastic anemia|anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|sideroblastic anemia pyridoxine-responsive autosomal recessive DOID:0060066|SCTID:191260004|GARD:0009872|OMIM:206000|MESH:C565954|UMLS:C1859787|UMLS:C0272027 owl:Class MONDO:0014375 biolink:NamedThing congenital diarrhea 7 with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. tmpak2llvmy_mondo_relaxed.owl DGAT1 congenital diarrhea|congenital diarrhea caused by mutation in DGAT1|DIAR7|congenital chronic diarrhea with protein-losing enteropathy|diarrhea 7|diarrhea type 7|congenital chronic diarrhea with exudative enteropathy Orphanet:329242|OMIM:615863|ICD10:P78.3|UMLS:C4014516|DOID:0060778 owl:Class HGNC:2843 biolink:NamedThing DGAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010354 biolink:NamedThing Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. tmpak2llvmy_mondo_relaxed.owl monocarboxylate transporter-8 deficiency|T3 resistance|mental retardation and muscular atrophy|ALLAN-Herndon-DUDLEY syndrome|intellectual disability, X-linked, with hypotonia|X-linked intellectual disability-hypotonia syndrome|MCT8-specific thyroid hormone cell Membrane transporter deficiency|T3 resisitence|intellectual disability and muscular atrophy|monocarboxylate transporter 8 deficiency|X-linked intellectual disability with hypotonia|ALLAN-Herndon syndrome|mental retardation, X-linked, with hypotonia|MCT8 deficiency|triiodothyronine resistence|triiodothyronine resistance|Allan-Herndon-Dudley syndrome|Allan-Herndon syndrome|AHDS UMLS:C0795889|GARD:0005617|DOID:0050631|OMIM:300523|SCTID:702327009|MESH:C537047|Orphanet:59|NCIT:C118843|ICD10:E03.1|ICD10:G31.8 https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome owl:Class HGNC:10923 biolink:NamedThing SLC16A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003528 biolink:NamedThing brain gray matter A gray matter that is part of a brain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl brain grey substance|gray matter of brain|brain grey matter|grey substance of brain|grey matter of brain owl:Class HGNC:12723 biolink:NamedThing VSX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013677 biolink:NamedThing Emery-Dreifuss muscular dystrophy 7, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 7, autosomal dominant|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7 UMLS:C3553060|OMIM:614302|DOID:0070252 owl:Class HGNC:28472 biolink:NamedThing TMEM43 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012250 biolink:NamedThing cervix glandular epithelium A glandular epithelium that is part of a uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervix columnar epithelium owl:Class UBERON:0005407 biolink:NamedThing sublingual ganglion the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28396 biolink:NamedThing TMEM67 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042074 biolink:NamedThing cell migration involved in gastrulation The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009809 biolink:NamedThing multicentric osteolysis, nodulosis, and arthropathy A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. tmpak2llvmy_mondo_relaxed.owl Torg syndrome|mona|Al-Aqeel Sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|Torg-Winchester syndrome|Torg-Winchester syndrome, formerly|osteolysis, hereditary multicentric|multicentric osteolysis, nodulosis, and arthropathy|NAO syndrome OMIM:259600|NCIT:C123437 owl:Class HGNC:24537 biolink:NamedThing CHMP2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003835 biolink:NamedThing gastric cardia adenocarcinoma A carcinoma that arises from glandular epithelial cells of the cardia of stomach. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of cardia of stomach|adenocarcinoma of the cardia of the stomach|adenocarcinoma of the gastric cardia|cardia of stomach adenocarcinoma|adenocarcinoma of gastric cardia NCIT:C5247|UMLS:C1333762|DOID:6271 owl:Class UBERON:0001162 biolink:NamedThing cardia of stomach The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP] tmpak2llvmy_mondo_relaxed.owl pars cardiaca (gaster)|stomach cardiac region|pars cardiaca gastricae|cardiac orifice|cardiac antrum|antrum cardiacum|cardial part of stomach|gastric cardia|cardiac region|cardial orifice owl:Class UBERON:0035846 biolink:NamedThing fibrous enthesis tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9834 biolink:NamedThing RAI1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002006 biolink:NamedThing cortex of lymph node Peripheral portion of the lymph node, underneath the capsule[WP]. tmpak2llvmy_mondo_relaxed.owl lymph node cortex|cortex nodi lymphoidei owl:Class OBO:CHR_9606-chr12p12.1 biolink:NamedThing chr12p12.1 (Human) tmpak2llvmy_mondo_relaxed.owl 26300000 21100000 hg38 owl:Class OBO:CHR_9606-chr12p12 biolink:NamedThing chr12p12 (Human) tmpak2llvmy_mondo_relaxed.owl 26300000 14600000 hg38 owl:Class CL:0002364 biolink:NamedThing cortical thymic epithelial cell An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. tmpak2llvmy_mondo_relaxed.owl cTEC BTO:0004562 tmeehan 2010-09-23T03:17:12Z cell owl:Class MONDO:0044345 biolink:NamedThing Schistosoma mansoni infectious disease An infection that is caused by Schistosoma mansoni. tmpak2llvmy_mondo_relaxed.owl Schistosoma mansoni disease or disorder|Schistosoma mansoni infection|Schistosoma mansoni caused disease or disorder NCIT:C35002|SCTID:750009|MESH:D012555 owl:Class MONDO:0016151 biolink:NamedThing qualitative or quantitative defects of perlecan tmpak2llvmy_mondo_relaxed.owl Orphanet:207101 owl:Class HGNC:5273 biolink:NamedThing HSPG2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008324 biolink:NamedThing cation transmembrane transporter activity Enables the transfer of cation from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl transmembrane cation transporter activity owl:Class GO:0098655 biolink:NamedThing cation transmembrane transport The process in which a cation is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl ATP hydrolysis coupled cation transmembrane transport owl:Class UBERON:0003952 biolink:NamedThing anterior stroma of cornea The anterior segment of the lamellated connective tissue layer of the cornea tmpak2llvmy_mondo_relaxed.owl anterior stroma|cornea anterior stroma owl:Class MONDO:0011147 biolink:NamedThing chromosome 18q deletion syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. tmpak2llvmy_mondo_relaxed.owl 18Q syndrome|proximal chromosome 18q deletion syndrome|proximal 18q deletion|chromosome 18q deletion syndrome|18q- syndrome|monosomy 18q syndrome|18q-syndrome|proximal 18q deletion syndrome|18Q- syndrome|monosomy type 18q|proximal 18q-|deletion 18q|monosomy 18q|chromosome 18Q- syndrome|18q deletion syndrome|deletion 18q syndrome MESH:C536580|GARD:0010866|UMLS:C0432443|NCIT:C84522|Orphanet:1600|ICD10:Q93.5|DOID:0060407|SCTID:270889005|ICD9:758.39|OMIM:601808 owl:Class UBERON:0008817 biolink:NamedThing thymus primordium endoderm An endoderm that is part of a thymus primordium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009660 biolink:NamedThing mucopolysaccharidosis type 4B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. tmpak2llvmy_mondo_relaxed.owl Morquio syndrome B|MPSIVB|MPS IV B|mucopolysaccharidosis type IVB|MPS IVB|MPS 4B|MPS4B|Morquio disease type B|mucopolysaccharidosis, type 4B|Beta-D-galactosidase deficiency|mucopolysaccharidosis, type IVB OMIM:253010|NCIT:C84902|Orphanet:309310|UMLS:C0086652|DOID:0111392|SCTID:238044004|GARD:0003786|ICD10:E76.2 owl:Class OBO:CHR_9606-chr8p11.2 biolink:NamedThing chr8p11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 43200000 36700000 hg38 owl:Class MONDO:0009862 biolink:NamedThing dihydropteridine reductase deficiency Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. tmpak2llvmy_mondo_relaxed.owl PKU type 2|Qdpr deficiency|hyperphenylalaninemia due to dihydropteridine reductase deficiency|disorder of 6,7-dihydropteridine reductase activity|hyperphenylalaninemia, Bh4-deficient, type C|dihydropteridine reductase deficiency|DHPR deficiency|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia, BH4-deficient, C|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, BH4-deficient C|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|phenylketonuria type 2|hyperphenylalaninemia, BH-4-deficient, C|HPABH4C NCIT:C138173|SCTID:58256000|OMIM:261630|ICD10:E70.1|Orphanet:226|GARD:0004319 https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency owl:Class HGNC:9752 biolink:NamedThing QDPR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900078 biolink:NamedThing positive regulation of cellular response to insulin stimulus Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl upregulation of cellular response to insulin stimulus|activation of cellular response to insulin stimulus|up-regulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus owl:Class GO:0032869 biolink:NamedThing cellular response to insulin stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23785 biolink:NamedThing PIKFYVE tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002435 biolink:NamedThing CD69-positive, CD8-positive single-positive thymocyte A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpak2llvmy_mondo_relaxed.owl intermediate CD8-single-positive|T.8SP69+.Th tmeehan 2010-10-21T02:59:14Z cell owl:Class HGNC:11630 biolink:NamedThing HNF1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007091 biolink:NamedThing amelia and terminal transverse hemimelia tmpak2llvmy_mondo_relaxed.owl amelia and terminal transverse hemimelia UMLS:C1863014|OMIM:104400|MESH:C566294 owl:Class CHEBI:78675 biolink:NamedThing fundamental metabolite Any metabolite produced by all living cells. tmpak2llvmy_mondo_relaxed.owl fundamental metabolites|essential metabolite|essential metabolites owl:Class MONDO:0004976 biolink:NamedThing amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. tmpak2llvmy_mondo_relaxed.owl motor neuron disease, bulbar|ALS|Lou Gehrig disease|amyotrophic lateral sclerosis|Charcot disease|Lou Gehrig's disease ICD10:G12.21|EFO:0000253|MESH:D000690|UMLS:C0002736|DOID:332|MedDRA:10002026|SCTID:86044005|Orphanet:803|GARD:0005786|NIFSTD:birnlex_12566|NCIT:C34373|ICD9:335.20|KEGG:05014|ICD10:G12.2 owl:Class HP:0007354 biolink:NamedThing Amyotrophic lateral sclerosis tmpak2llvmy_mondo_relaxed.owl Lou Gehrig's disease UMLS:C0002736|MSH:D000690|SNOMEDCT_US:86044005 human_phenotype owl:Class MONDO:0008842 biolink:NamedThing ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. tmpak2llvmy_mondo_relaxed.owl early-onset cerebellar ataxia with hypoalbuminemia|ataxia-oculomotor apraxia type 1|APTX oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia syndrome|EAOH|ataxia with oculomotor apraxia type 1|ataxia-telangiectasia-like syndrome|early-onset ataxia with oculomotor apraxia and hypoalbuminemia|EOCA-HA|ataxia-oculomotor apraxia 1|cerebellar ataxia, early-onset, with hypoalbuminemia|AOA1|oculomotor apraxia or related oculomotor disease caused by mutation in APTX|ataxia, adult-onset, with oculomotor apraxia|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ICD10:G11.3|GARD:0009283|MESH:C538013|DOID:0050754|Orphanet:1168|UMLS:C1859598|OMIM:208920 Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, owl:Class HGNC:15984 biolink:NamedThing APTX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015432 biolink:NamedThing ring chromosome 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. tmpak2llvmy_mondo_relaxed.owl Ring chromosome type 12|chromosome 12 ring|Ring chromosome 12 syndrome|Ring 12|R12 Orphanet:1439|GARD:0001325|UMLS:C0795843|ICD10:Q93.2|MESH:C538298 https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 owl:Class OBO:CHR_9606-chr12 biolink:NamedThing chr12 (Human) tmpak2llvmy_mondo_relaxed.owl 133275309 0 hg38 owl:Class UBERON:0003721 biolink:NamedThing lingual nerve The lingual nerve is a branch of the mandibular nerve (CN V3), itself a branch of the trigeminal nerve, which supplies sensory innervation to the tongue. It also carries fibers from the facial nerve, which return taste information from the anterior two thirds of the tongue. tmpak2llvmy_mondo_relaxed.owl trigeminal V nerve lingual branch|lingual branch of trigeminal nerve|trigeminal nerve lingual branch owl:Class ENVO:01001646 biolink:NamedThing amorphous solid A solid material which does not have a regularly organised internal structure. tmpak2llvmy_mondo_relaxed.owl owl:Class Nd12643fd1f2042a2896eea7d33c25b16 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013548 biolink:NamedThing acetyl-CoA acetyltransferase-2 deficiency tmpak2llvmy_mondo_relaxed.owl ACAT2|acetyl-CoA acetyltransferase-2 deficiency|acetoacetyl CoA thiolase, cytosolic|Acat2 deficiency|Acetyl CoA acetyltransferase 2 deficiency|Acetocoenzyme A acetyltransferase 2|ACAT2D|ACETYL-CoA acetyltransferase-2 deficiency GARD:0009154|OMIM:614055|UMLS:C0342735|MESH:C536005 https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency owl:Class HGNC:94 biolink:NamedThing ACAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000951 biolink:NamedThing rotator muscle of the vertebral column Any of a number of short transversospinal muscles chiefly developed in cervical, lumbar, and thoracic regions, arising from the transverse process of one vertebra and inserted into the root of the spinous process of the next two or three vertebrae above, with nerve supply from the dorsal branches of the spinal nerve, and whose actions rotate the vertebral column. tmpak2llvmy_mondo_relaxed.owl rotator muscle owl:Class GO:0004485 biolink:NamedThing methylcrotonoyl-CoA carboxylase activity Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. tmpak2llvmy_mondo_relaxed.owl beta-methylcrotonyl coenzyme A carboxylase activity|3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl CoA carboxylase activity|MCCC activity|methylcrotonyl-CoA carboxylase activity|methylcrotonyl coenzyme A carboxylase activity owl:Class MONDO:0012931 biolink:NamedThing focal segmental glomerulosclerosis 4, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene. tmpak2llvmy_mondo_relaxed.owl end-stage renal disease, nondiabetic, susceptibility to|FSGS4|focal segmental glomerulosclerosis caused by mutation in APOL1|APOL1 focal segmental glomerulosclerosis|susceptibility to focal segmental glomerulosclerosis 4|focal segmental glomerulosclerosis 4, susceptibility to OMIM:612551 owl:Class HGNC:618 biolink:NamedThing APOL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013164 biolink:NamedThing beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). tmpak2llvmy_mondo_relaxed.owl BETA-ureidopropionase deficiency|Beta-alanine synthase deficiency|UPB1D|beta-ureidopropionase deficiency ICD10:E79.8|UMLS:C1291512|ICD9:277.6|SCTID:124511000|MESH:C563210|Orphanet:65287|OMIM:613161 owl:Class HGNC:16297 biolink:NamedThing UPB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044304 biolink:NamedThing hyperphenylalaninemia due to DNAJC12 deficiency Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). tmpak2llvmy_mondo_relaxed.owl HPANBH4|hyperphenylalaninemia due to DNAJC12 deficiency|hyperphenylalaninemia, mild, non-BH4-deficient OMIM:617384|UMLS:C4479270|Orphanet:508523 owl:Class HGNC:28908 biolink:NamedThing DNAJC12 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:227984 biolink:NamedThing SARS coronavirus Tor2 tmpak2llvmy_mondo_relaxed.owl SARS Tor2|Severe acute respiratory syndrome-related coronavirus Tor2 GC_ID:1 ncbi_taxonomy owl:Class CHEBI:26536 biolink:NamedThing retinoic acid A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified). tmpak2llvmy_mondo_relaxed.owl 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid owl:Class MONDO:0010792 biolink:NamedThing lethal infantile mitochondrial myopathy Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. tmpak2llvmy_mondo_relaxed.owl LIMD|lethal infantile mitochondrial disease|mitochondrial myopathy, lethal, infantile|LIMM UMLS:C1838876|SCTID:766251006|Orphanet:254857|OMIM:551000|ICD10:G71.3|MESH:C564017 owl:Class HGNC:7499 biolink:NamedThing MT-TT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004816 biolink:NamedThing larynx epithelium An epithelium that is part of a larynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl laryngeal epithelium|epithelial tissue of larynx|epithelium of larynx|larynx epithelial tissue owl:Class MONDO:0017571 biolink:NamedThing Proteus-like syndrome Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. tmpak2llvmy_mondo_relaxed.owl Proteus like syndrome intellectual disability eye defect|Proteus like syndrome mental retardation eye defect|Cohen-Hayden syndrome ICD10:Q87.3|SCTID:716862002|GARD:0004525|Orphanet:2969|GARD:0012801 owl:Class NCBITaxon:88456 biolink:NamedThing Cyclospora cayetanensis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001463 biolink:NamedThing splenic flexure cancer A malignant neoplasm involving the splenic flexure of colon. tmpak2llvmy_mondo_relaxed.owl cancer of splenic flexure of colon|malignant splenic flexure of colon neoplasm|malignant neoplasm of splenic flexure of colon|malignant tumor of splenic flexure|malignant neoplasm of splenic flexure|Ca splenic flexure - colon|splenic flexure of colon cancer ICD9:153.7|DOID:12191|SCTID:363413005|UMLS:C0153440|ICD10:C18.5 owl:Class UBERON:0022276 biolink:NamedThing splenic flexure of colon The splenic (or left colic) flexure is a sharp bend between the transverse and the descending colon in the left upper quadrant of humans. The left colic flexure is near the spleen, and hence called the splenic flexure. There are two colic flexures in the transverse colon — the other being the hepatic flexure in the right upper quadrant. tmpak2llvmy_mondo_relaxed.owl left colic flexure|splenic flexure|splenic flexure of colon|flexura coli splenica owl:Class HGNC:1052 biolink:NamedThing BIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006266 biolink:NamedThing nasolacrimal groove Groove between maxillary prominence and lateral nasal process. tmpak2llvmy_mondo_relaxed.owl naso-lacrimal groove|s. lacrimalis maxillae owl:Class MONDO:0011904 biolink:NamedThing seizures, benign familial infantile, 3 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene. tmpak2llvmy_mondo_relaxed.owl convulsions, benign familial infantile, 3|SCN2A benign familial infantile epilepsy|BFIS3|seizures, benign familial infantile, type 3|seizures, benign familial neonatal-infantile|benign familial infantile epilepsy caused by mutation in SCN2A|seizures, benign familial infantile, 3 UMLS:C1843140|OMIM:607745 owl:Class HGNC:10588 biolink:NamedThing SCN2A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20207 biolink:NamedThing B3GLCT tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:89 biolink:NamedThing ACADM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012928 biolink:NamedThing hereditary spastic paraplegia 42 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 42|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|SLC33A1 autosomal dominant pure spastic paraplegia|spastic paraplegia 42, autosomal dominant|autosomal dominant spastic paraplegia 42|SPG42|autosomal dominant spastic paraplegia type 42 UMLS:C2675528|Orphanet:171863|MESH:C567262|DOID:0110794|OMIM:612539|ICD10:G11.4|SCTID:763070001 owl:Class HGNC:95 biolink:NamedThing SLC33A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012945 biolink:NamedThing amyotrophic lateral sclerosis type 11 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene. tmpak2llvmy_mondo_relaxed.owl FIG4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 11|amyotrophic lateral sclerosis 11|ALS11|amyotrophic lateral sclerosis caused by mutation in FIG4 OMIM:612577|UMLS:C2675491|GARD:0010496|MESH:C567244|DOID:0060202 https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11 owl:Class MONDO:0013277 biolink:NamedThing developmental and epileptic encephalopathy, 5 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 5|DEE5|SPTAN1 early infantile epileptic encephalopathy|EIEE5|epileptic encephalopathy, early infantile, type 5|early infantile epileptic encephalopathy caused by mutation in SPTAN1 UMLS:C3150731|OMIM:613477|DOID:0080438 owl:Class HsapDv:0000143 biolink:NamedThing 49-year-old human stage Middle aged stage that refers to an adult who is over 49 and under 50. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19368 biolink:NamedThing HYDIN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004295 biolink:NamedThing asbestos-related lung carcinoma A carcinoma arising in the lung due to exposure to asbestos. tmpak2llvmy_mondo_relaxed.owl asbestos-related lung cancer|asbestos-related lung carcinoma DOID:7596|UMLS:C1332337|NCIT:C27925 owl:Class MONDO:0012947 biolink:NamedThing intellectual disability, autosomal dominant 4 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 4|autosomal dominant mental retardation 4|intellectual disability, autosomal dominant 4|KIRREL3 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 4|autosomal dominant non-syndromic intellectual disability 4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|MRD4|intellectual disability, autosomal dominant type 4|mental retardation, autosomal dominant type 4 DOID:0070034|MESH:C567240|UMLS:C2675487|OMIM:612581 owl:Class HGNC:23204 biolink:NamedThing KIRREL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002667 biolink:NamedThing gallbladder signet ring cell adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. tmpak2llvmy_mondo_relaxed.owl gallbladder signet Ring cell carcinoma|signet Ring cell carcinoma of gallbladder|signet Ring cell carcinoma of the gallbladder|gall bladder signet ring cell carcinoma UMLS:C1333758|NCIT:C5745|DOID:3499 owl:Class UBERON:0000031 biolink:NamedThing lamina propria of trachea A lamina propria that is part of a respiratory airway. tmpak2llvmy_mondo_relaxed.owl trachea lamina propria|lamina propria mucosae of trachea|windpipe lamina propria mucosa|lamina propria mucosa of trachea|windpipe lamina propria|lamina propria of windpipe|windpipe lamina propria mucosae|lamina propria mucosa of windpipe|lamina propria mucosae of windpipe|trachea lamina propria mucosae|trachea lamina propria mucosa|tracheal lamina propria owl:Class MONDO:0014828 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 3 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-Facial anomalies syndrome 3|ICF3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3|ICF syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome type 3 DOID:0090010|OMIM:616910|ICD10:D84.8|UMLS:C4310799 owl:Class MONDO:0006469 biolink:NamedThing tibial adamantinoma An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). tmpak2llvmy_mondo_relaxed.owl tibial adamantinoma morphology|tibia adamantinoma|tibia long bone adamantinoma|tibial adamantinoma|adamantinoma of tibia UMLS:C1273017|SCTID:281702006|NCIT:C8461|DOID:6322|EFO:1000596 owl:Class HGNC:6297 biolink:NamedThing KCNQ3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032620 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 15 tmpak2llvmy_mondo_relaxed.owl MC1DN15|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM:618237 owl:Class HGNC:21034 biolink:NamedThing NDUFAF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004584 biolink:NamedThing maple bark strippers' lung tmpak2llvmy_mondo_relaxed.owl alveolitis due to cryptostroma corticale|maple-bark strippers' lung|maple bark stripper's disease|maple bark stripper's lung|maple bark disease|maple bark-strippers' lung UMLS:C0155890|ICD9:495.6|ICD10:J67.6|DOID:8484|SCTID:86638007 owl:Class NCBITaxon:1463975 biolink:NamedThing Cryptostroma corticale tmpak2llvmy_mondo_relaxed.owl Coniosporium corticale GC_ID:1 ncbi_taxonomy owl:Class GO:0071623 biolink:NamedThing negative regulation of granulocyte chemotaxis Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010027 biolink:NamedThing free sialic acid storage disease, infantile form tmpak2llvmy_mondo_relaxed.owl sialuria, infantile form|infantile free sialic acid storage disease|infantile sialic acid storage disease|ISSD|Nana storage disease|N-acetylneuraminic acid storage disease|infantile sialic acid storage disorder OMIM:269920|ICD10:E77.8|SCTID:34566007|MedDRA:10067532|GARD:0000175|Orphanet:309324 owl:Class HGNC:10933 biolink:NamedThing SLC17A5 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50903 biolink:NamedThing carcinogenic agent A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. tmpak2llvmy_mondo_relaxed.owl carcinogens|carcinogenic agents|cancerogene|carcinogene|carcinogeno|agente carcinogeno|carcinogen|cancerigene owl:Class HP:0000726 biolink:NamedThing Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. tmpak2llvmy_mondo_relaxed.owl Progressive dementia|Dementia, progressive|Dementia UMLS:C0497327|SNOMEDCT_US:52448006|MSH:D003704 HP:0007122|HP:0002274|HP:0007150|HP:0007283 human_phenotype owl:Class MONDO:0012037 biolink:NamedThing intellectual disability, autosomal recessive 3 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. tmpak2llvmy_mondo_relaxed.owl CC2D1A autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 3|MRT3|mental retardation, autosomal recessive 3|mental retardation, autosomal recessive type 3|autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|intellectual disability, autosomal recessive type 3 UMLS:C1838023|OMIM:608443|MESH:C563929 owl:Class HGNC:30237 biolink:NamedThing CC2D1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014152 biolink:NamedThing left ventricular noncompaction 8 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene. tmpak2llvmy_mondo_relaxed.owl LVNC8|cardiomyopathy, dilated, 1Ll|left ventricular noncompaction type 8|PRDM16 familial isolated dilated cardiomyopathy|left ventricular noncompaction 8|familial isolated dilated cardiomyopathy caused by mutation in PRDM16 OMIM:615373|UMLS:C3809288 This appears in the series 115200 because of an included entity. owl:Class HGNC:14000 biolink:NamedThing PRDM16 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9591 biolink:NamedThing PTGDR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012091 biolink:NamedThing autosomal recessive nonsyndromic deafness 32 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3. tmpak2llvmy_mondo_relaxed.owl CDC14A autosomal recessive nonsyndromic deafness|DFNB105|deafness, autosomal recessive type 105|autosomal recessive nonsyndromic deafness 105|deafness, autosomal recessive 32|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 105|autosomal recessive nonsyndromic deafness type 32|DFNB32|deafness, autosomal recessive 105|autosomal recessive deafness 32 UMLS:C4310777|ICD10:H90.3|OMIM:608653|MESH:C563884|UMLS:C1837608|OMIM:616958|DOID:0110466|DOID:0110491 owl:Class HGNC:1718 biolink:NamedThing CDC14A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001848 biolink:NamedThing auricular cartilage cartilage of the pinna and much of the external ear canal. tmpak2llvmy_mondo_relaxed.owl pinna cartilage|cartilage of pinna owl:Class UBERON:0001867 biolink:NamedThing cartilage of external ear A cartilage that is part of a external ear [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl external ear cartilage owl:Class HGNC:15894 biolink:NamedThing PANK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003392 biolink:NamedThing fallopian tube germ cell tumor A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. tmpak2llvmy_mondo_relaxed.owl fallopian tube germ cell neoplasm|fallopian tube germ cell tumor|fallopian tube germ cell cancer DOID:5324|NCIT:C40130|UMLS:C1517114 owl:Class MONDO:0024464 biolink:NamedThing pituitary hormone deficiency, combined, 1 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. tmpak2llvmy_mondo_relaxed.owl combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined, 1|pituitary hormone deficiency, combined 1|CPHD1|POU1F1 combined pituitary hormone deficiencies, genetic form UMLS:C2751608|OMIM:613038|MESH:C567803|GARD:0010601 owl:Class HGNC:9210 biolink:NamedThing POU1F1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005945 biolink:NamedThing rhinoscleroma A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. tmpak2llvmy_mondo_relaxed.owl EFO:0007470|SCTID:72409005|ICD9:040.1|DOID:11336|MESH:D012226|UMLS:C0035468 owl:Class NCBITaxon:573 biolink:NamedThing Klebsiella pneumoniae tmpak2llvmy_mondo_relaxed.owl Bacillus pneumoniae|'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Hyalococcus pneumoniae|Klebsiella pneumoniae aerogenes|Bacterium pneumoniae crouposae PMID:11411715|PMID:1581186|GC_ID:11 NCBITaxon:585494|NCBITaxon:1096019|NCBITaxon:875801|NCBITaxon:692338|NCBITaxon:1795825|NCBITaxon:1673140 ncbi_taxonomy owl:Class MONDO:0021429 biolink:NamedThing squamous cell carcinoma of floor of mouth A squamous cell carcinoma that involves the mouth floor. tmpak2llvmy_mondo_relaxed.owl scc of the floor of mouth|squamous cell carcinoma of the floor of mouth|floor of mouth squamous cell carcinoma|mouth floor squamous cell carcinoma|scc of floor of mouth|floor of mouth scc SCTID:276954004|UMLS:C0280300|NCIT:C4041 owl:Class UBERON:0003660 biolink:NamedThing eyelid muscle A muscle that attaches to an eyelid. tmpak2llvmy_mondo_relaxed.owl muscle organ of eyelid|blepharon muscle organ|muscle organ of blepharon|eyelid muscle organ owl:Class UBERON:0004014 biolink:NamedThing labium minora One of the folds of skin which form the inner lips on both sides of the vaginal opening tmpak2llvmy_mondo_relaxed.owl labia minorum|labium minorum|labium minus pudendi|labium minus|labium minora owl:Class MONDO:0007681 biolink:NamedThing goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene. tmpak2llvmy_mondo_relaxed.owl familial MNG|goiter, nontoxic, with Intrathyroidal calcification|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors|multinodular goiter, adolescent|euthyroid goiter|MNG1|simple goiter|FMNG SCTID:267369002|UMLS:CN202615|OMIM:138800|Orphanet:276399|ICD10:E04.2|MESH:C562732|ICD9:240.0 owl:Class UBERON:0005843 biolink:NamedThing sacral spinal cord A spinal cord segment that adjacent_to a sacral region. tmpak2llvmy_mondo_relaxed.owl sacral segments of spinal cord [1-5]|segmenta sacralia medullae spinalis [1-5]|sacral segment of spinal cord|pars sacralis medullae spinalis owl:Class NCBITaxon:160 biolink:NamedThing Treponema pallidum tmpak2llvmy_mondo_relaxed.owl Spironema pallidum|Spirochaeta pallida|Spirillum pallidum|Microspironema pallidum GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004117 biolink:NamedThing ampulla of vater small cell neuroendocrine carcinoma An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpak2llvmy_mondo_relaxed.owl small cell neuroendocrine carcinoma of the ampullary region|hepatopancreatic ampulla small cell carcinoma|ampulla of Vater small cell neuroendocrine carcinoma|ampulla of Vater small cell NEC|ampullary small cell carcinoma|ampulla of Vater small cell carcinoma UMLS:C1332250|NCIT:C6655|DOID:7136 owl:Class MONDO:0010299 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase partial deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. tmpak2llvmy_mondo_relaxed.owl hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|KELLEY-Seegmiller syndrome|HPRT-related gout|HPRT1 partial deficiency|gout, HPRT-related|Kelley-Seegmiller syndrome|HPRT deficiency, partial|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|HPRT deficiency, grade I|HPRT partial deficiency|Hprt1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I|HPRT-related hyperuricemia OMIM:300323|ICD10:E79.8|Orphanet:79233|ICD9:277.2|UMLS:C0268117|MESH:C562583|SCTID:238007004 owl:Class HGNC:5157 biolink:NamedThing HPRT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012742 biolink:NamedThing Brugada syndrome 3 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. tmpak2llvmy_mondo_relaxed.owl Brugada syndrome 3|BRGDA3|Brugada syndrome type 3|CACNA1C Brugada syndrome|Brugada syndrome caused by mutation in CACNA1C MESH:C567509|ICD10:I49.8|GARD:0010361|UMLS:C2678478|DOID:0110220|OMIM:611875 https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3 owl:Class NCBITaxon:2037 biolink:NamedThing Actinomycetales tmpak2llvmy_mondo_relaxed.owl PMID:16558735|PMID:10028252|PMID:19244447|PMID:28840812|GC_ID:11 NCBITaxon:85005 ncbi_taxonomy owl:Class MONDO:0013465 biolink:NamedThing achromatopsia 4 Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene. tmpak2llvmy_mondo_relaxed.owl ACHM4|achromatopsia 4|GNAT2 achromatopsia|achromatopsia type 4|achromatopsia caused by mutation in GNAT2 OMIM:613856|DOID:0110010|MESH:C564206|UMLS:C1841721 owl:Class HGNC:4394 biolink:NamedThing GNAT2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10411 biolink:NamedThing RPS24 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001549 biolink:NamedThing dorsal metatarsal vein The dorsal metatarsal veins are veins which drain the metatarsus of the foot. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl venae metatarsales dorsales|metatarsal vein owl:Class MONDO:0100188 biolink:NamedThing combined ApoA-I and ApoC-III deficiency A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. tmpak2llvmy_mondo_relaxed.owl ApoA-I and apoC-III deficiency, combined http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:600 biolink:NamedThing APOA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012893 biolink:NamedThing osteoarthritis susceptibility 5 Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene. tmpak2llvmy_mondo_relaxed.owl GDF5 osteoarthritis|osteoarthritis caused by mutation in GDF5|OS5|osteoarthritis of hip|osteoarthritis susceptibility 5|osteoarthritis susceptibility type 5 SCTID:239872002|OMIM:612400|UMLS:C0029410 owl:Class MONDO:0005852 biolink:NamedThing mitral valve stenosis Narrowing of the left atrioventricular mitral orifice. tmpak2llvmy_mondo_relaxed.owl mitral stenoses|mitral valve stenoses|mitral stenosis|valve stenoses, mitral|stenoses, mitral valve|stenosis, mitral|valve stenosis, mitral|stenoses, mitral|stenosis, mitral valve UMLS:C0026269|SCTID:79619009|DOID:1754|EFO:0007372|MESH:D008946 owl:Class HP:0001718 biolink:NamedThing Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. tmpak2llvmy_mondo_relaxed.owl Mitral valve stenosis Fyler:1511|ICD-10:Q23.2|SNOMEDCT_US:79619009|UMLS:C0026269|EPCC:06.02.92|MSH:D008946 HP:0005163 human_phenotype owl:Class MONDO:0014082 biolink:NamedThing cryptosporidiosis-chronic cholangitis-liver disease syndrome tmpak2llvmy_mondo_relaxed.owl cryptosporidiosis-chronic cholangitis-liver disease syndrome|IMD56|IL21R immunodeficiency|immunodeficiency 56 OMIM:615207|Orphanet:357329|ICD10:D81.8|UMLS:C3554687 owl:Class HGNC:6006 biolink:NamedThing IL21R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014376 biolink:NamedThing intellectual disability, autosomal dominant 27 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 27|autosomal dominant non-syndromic intellectual disability 27|intellectual disability, autosomal dominant type 27|autosomal dominant mental retardation 27|autosomal dominant intellectual disability 27|intellectual disability, autosomal dominant 27|mental retardation, autosomal dominant type 27|MRD27 DOID:0070057|OMIM:615866|UMLS:C4014528 owl:Class HGNC:11191 biolink:NamedThing SOX11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005147 biolink:NamedThing metanephric renal vesicle The renal vesicle is the primordial structure of the metanephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO]. tmpak2llvmy_mondo_relaxed.owl metanephric vesicle owl:Class UBERON:0005134 biolink:NamedThing metanephric nephron epithelium The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003943 biolink:NamedThing N-acetylgalactosamine-4-sulfatase activity Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. tmpak2llvmy_mondo_relaxed.owl N-acetylgalactosamine-4-sulphatase activity|N-acetylgalactosamine 4-sulfate sulfohydrolase activity|acetylgalactosamine 4-sulfatase activity|N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|arylsulfatase B|chondroitinsulfatase owl:Class GO:0010950 biolink:NamedThing positive regulation of endopeptidase activity Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004779 biolink:NamedThing respiratory system lamina propria A lamina propria that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl respiratory system lamina propria mucosa|lamina propria mucosa of apparatus respiratorius|apparatus respiratorius lamina propria|lamina propria mucosa of respiratory system|lamina propria of apparatus respiratorius|lamina propria of respiratory system|apparatus respiratorius lamina propria mucosa owl:Class MONDO:0100245 biolink:NamedThing acquired paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. tmpak2llvmy_mondo_relaxed.owl PNH|paroxysmal hemoglobinuria|Marchiafava-Micheli disease UMLS:C0019050|ICD10:D59.5|HGNC:8957|HP:0004818|MedDRA:10034042|NCIT:C61233|SCTID:1963002|GARD:0007337|ICD10:D59.1|Orphanet:447|UMLS:C0024790|DOID:0060284|ICD10:D59.6 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria owl:Class MONDO:0003422 biolink:NamedThing lung adenoma A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. tmpak2llvmy_mondo_relaxed.owl lung adenoma|adenoma of lung|adenoma of the lung|pulmonary adenoma UMLS:C0345964|SCTID:254642004|NCIT:C4455|DOID:5386 owl:Class UBERON:0035177 biolink:NamedThing abdominal part of esophagus Clinical esophageal segment composed of smooth muscle. It corresponds to the inferior part of the lower third topographic segment of the esophagus. tmpak2llvmy_mondo_relaxed.owl t11 segment of esophagus|pars abdominalis oesophageae|T11 part of esophagus|pars abdominalis (oesophagus)|abdominal esophagus|abdominal part of oesophagus owl:Class UBERON:0007645 biolink:NamedThing future meninx A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. tmpak2llvmy_mondo_relaxed.owl primitive meninx|meninx primitiva|primordial meninx|primary meninx owl:Class UBERON:0002360 biolink:NamedThing meninx Membrane organ that surrounds the brain and the spinal cord. tmpak2llvmy_mondo_relaxed.owl layer of meninges|meninx primitiva|meningeal layer owl:Class UBERON:0010693 biolink:NamedThing pedal digit 1 epithelium An epithelium that is part of a pedal digit 1. tmpak2llvmy_mondo_relaxed.owl pedal digit I epithelium|foot digit 1 epithelium|hind limb digit 1 epithelium owl:Class PR:000016043 biolink:NamedThing T-cell acute lymphocytic leukemia protein 1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013828 biolink:NamedThing hyperekplexia 2 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. tmpak2llvmy_mondo_relaxed.owl hyperekplexia type 2|hereditary hyperekplexia caused by mutation in GLRB|HKPX2|hyperekplexia 2|GLRB hereditary hyperekplexia UMLS:C3553291|DOID:0060697|OMIM:614619|ICD10:G25.8 owl:Class HGNC:4329 biolink:NamedThing GLRB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013950 biolink:NamedThing peroxisome biogenesis disorder 11B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 11B|peroxisome biogenesis disorder type 11B|PBD11B UMLS:C3554001|OMIM:614885 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0001462 biolink:NamedThing descending colon cancer A malignant neoplasm involving the descending colon. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of descending colon|descending colon cancer|malignant tumor of descending colon|cancer of descending colon|Ca descending colon|malignant neoplasm of left colon|malignant descending colon neoplasm ICD10:C18.6|UMLS:C0153435|DOID:12190|ICD9:153.2|SCTID:363409003 owl:Class HGNC:23230 biolink:NamedThing UBA5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3809 biolink:NamedThing FOXF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012763 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 6 Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene. tmpak2llvmy_mondo_relaxed.owl childhood absence epilepsy caused by mutation in CACNA1H|epilepsy, childhood absence, susceptibility to, type 6|CACNA1H childhood absence epilepsy|epilepsy, idiopathic generalized, susceptibility to, 6|susceptibility to childhood absence epilepsy 6|epilepsy, childhood absence, susceptibility to, 6|ECA6 OMIM:611942 owl:Class HGNC:10820 biolink:NamedThing SH2D1A tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:71392 biolink:NamedThing tetracycline(1-) An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. tmpak2llvmy_mondo_relaxed.owl (1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate|tetracycline anion owl:Class GO:0055117 biolink:NamedThing regulation of cardiac muscle contraction Any process that modulates the frequency, rate or extent of cardiac muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002754 biolink:NamedThing Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. tmpak2llvmy_mondo_relaxed.owl Bone infection SNOMEDCT_US:111253001|UMLS:C0029443|SNOMEDCT_US:60168000|UMLS:C2242472|MSH:D010019 Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. HP:0005901|HP:0002755 human_phenotype owl:Class CL:0000020 biolink:NamedThing spermatogonium An euploid male germ cell of an early stage of spermatogenesis. tmpak2llvmy_mondo_relaxed.owl spermatogonial cell EMAPA:31482|FMA:72291|CALOHA:TS-2193|FBbt:00004935|BTO:0000958 cell owl:Class UBERON:0007383 biolink:NamedThing enveloping layer of ectoderm Outermost layer of cells surrounding the embryo. tmpak2llvmy_mondo_relaxed.owl EVL|enveloping layer owl:Class GO:0033685 biolink:NamedThing negative regulation of luteinizing hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of luteinizing hormone. tmpak2llvmy_mondo_relaxed.owl inhibition of luteinizing hormone secretion|downregulation of luteinizing hormone secretion|down-regulation of luteinizing hormone secretion|down regulation of luteinizing hormone secretion owl:Class GO:0032275 biolink:NamedThing luteinizing hormone secretion The regulated release of luteinizing hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042571 biolink:NamedThing immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. tmpak2llvmy_mondo_relaxed.owl antibody owl:Class MONDO:0004648 biolink:NamedThing vascular dementia A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. tmpak2llvmy_mondo_relaxed.owl multifocal dementia|multi infarct dementia|vascular dementia SCTID:429998004|ICD9:290.4|ICD10:F01.5|NCIT:C34525|ICD10:F01|EFO:0004718|DOID:8725|MESH:D015140|UMLS:C0011269 owl:Class MONDO:0006470 biolink:NamedThing tonsillar squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of the tonsil|squamous cell carcinoma of tonsil|scc of the tonsil|tonsillar scc|scc of tonsil|tonsil scc|palatine tonsil squamous cell carcinoma NCIT:C8183|EFO:1000597|UMLS:C0280317 owl:Class MONDO:0016790 biolink:NamedThing tricarboxylic acid cycle disorder An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. tmpak2llvmy_mondo_relaxed.owl Krebs cycle disorder|TCA cycle disorder|rare inborn error of tricarboxylic acid cycle|inborn error of tricarboxylic acid cycle|inborn tricarboxylic acid cycle disorder|citric acid cycle disorder UMLS:CN227000|ICD10:E88.8|Orphanet:254749 owl:Class UBERON:0029503 biolink:NamedThing sacral spinal cord gray matter tmpak2llvmy_mondo_relaxed.owl sacral spinal cord gray matter owl:Class UBERON:0010032 biolink:NamedThing anterior part of tongue The portion of the tongue in front of the terminal sulcus. At the apex, thin and narrow, it is directed forward against the lingual surfaces of the lower incisor teeth. It is derived primarily from the first pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl anterior 2/3 of tongue|front of the tongue|oral part of the tongue|anterior two thirds of the tongue|pars anterior dorsi linguae|apex linguae|anterior 2/3 of the tongue|buccal part of the tongue|apex of the tongue owl:Class MONDO:0043187 biolink:NamedThing pulmonary artery agenesis tmpak2llvmy_mondo_relaxed.owl agenesis of pulmonary artery|pulmonary artery absent|pulmonary artery agenesis|congenital absence of pulmonary artery GARD:0004585|SCTID:86252004 owl:Class HGNC:7010 biolink:NamedThing MEN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009145 biolink:NamedThing pharyngeal region of foregut tmpak2llvmy_mondo_relaxed.owl pharyngeal region owl:Class UBERON:0035201 biolink:NamedThing gastrocolic ligament A major portion of the greater omentum between the stomach and the transverse colon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012510 biolink:NamedThing combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. tmpak2llvmy_mondo_relaxed.owl COXPD2|MRPS16 combined oxidative phosphorylation deficiency|corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|combined oxidative phosphorylation deficiency caused by mutation in MRPS16|combined oxidative phosphorylation deficiency type 2|combined oxidative phosphorylation deficiency 2 SCTID:764943000|Orphanet:254920|DOID:0111483|ICD10:E88.8|OMIM:610498|MESH:C566468|UMLS:C1864843 owl:Class HGNC:14048 biolink:NamedThing MRPS16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003661 biolink:NamedThing breast lymphoma A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare. tmpak2llvmy_mondo_relaxed.owl lymphoma of the breast|primary breast lymphoma|malignant lymphoma of breast|breast lymphoma|lymphoma of breast UMLS:C1704251|UMLS:C0349669|DOID:5826|NCIT:C4671|SCTID:278052009 owl:Class UBERON:0001739 biolink:NamedThing laryngeal cartilage The cartilaginous structures that support the larynx. tmpak2llvmy_mondo_relaxed.owl cartilage of larynx|cartilagines laryngeales|larynx cartilage owl:Class MONDO:0003719 biolink:NamedThing renal pelvis neoplasm A neoplasm (disease) that involves the renal pelvis. tmpak2llvmy_mondo_relaxed.owl renal pelvis tumor|neoplasm of the kidney pelvis|neoplasm of the renal pelvis|tumor of renal pelvis|neoplasm of renal pelvis|renal pelvis neoplasm (disease)|tumor of the kidney pelvis|tumor of the renal pelvis|neoplasm of kidney pelvis|tumor of kidney pelvis|kidney pelvis tumor|kidney pelvis neoplasm|renal pelvis neoplasm SCTID:126881002|DOID:5977|UMLS:C0346260|NCIT:C8404|ICD9:239.5 owl:Class UBERON:0004906 biolink:NamedThing ectodermal part of digestive tract A portion of the gut that is derived from ectoderm. tmpak2llvmy_mondo_relaxed.owl ectodermal gut|gut ectoderm owl:Class MONDO:0014359 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 4 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. tmpak2llvmy_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary, type 4|PRKACA primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|pigmented nodular adrenocortical disease, primary, 4|PPNAD4|chromosome 19P13 Duplication syndrome|Cushing syndrome, adrenal, due to Ppnad4|ACTH-independent adrenal Cushing syndrome, somatic UMLS:C4014425|OMIM:615830 owl:Class HGNC:9380 biolink:NamedThing PRKACA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012199 biolink:NamedThing posterior polymorphous corneal dystrophy 2 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, POSTERIOR polymorphous, 2|COL8A2 posterior polymorphous corneal dystrophy|PPCD2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|Ppcd2|posterior polymorphous corneal dystrophy type 2|corneal dystrophy, posterior polymorphous, type 2 UMLS:C1852795|MESH:C565176|OMIM:609140|DOID:0110856|ICD10:H18.50 owl:Class ENVO:01001227 biolink:NamedThing aquatic natural environment A natural environment which is within a water body. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005431 biolink:NamedThing anterior spinal artery A blood vessel that supplies the anterior portion of the spinal cord. It arises from branches of the vertebral arteries and is supplied by the anterior segmental medullary arteries, including the artery of Adamkiewicz, and courses along the anterior aspect of the spinal cord. tmpak2llvmy_mondo_relaxed.owl arteria spinalis anterior|anterior spinal arteries|ventral spinal artery|ventral artery of the spinal cord|anterior medial spinal artery owl:Class UBERON:0008447 biolink:NamedThing intertarsal joint Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation tmpak2llvmy_mondo_relaxed.owl articulationes intertarsales|intertarsal|intermetatarsal joint|intertarsal joint|intertarsal articulation|articulationes intertarsale|tarsal joints|tarsal joint|articulationes intertarseae owl:Class HGNC:1675 biolink:NamedThing CD3G tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001248 biolink:NamedThing hilum of spleen The splenic hilum is a location on the surface of the spleen. It is the point of attachment for the gastrosplenic ligament, and the point of insertion for the splenic artery and splenic vein. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl splenic hilum|hilum splenicum|hilum|spleen hilum|hilum lienale owl:Class FOODON:03411324 biolink:NamedThing grain plant Any grass cultivated (grown) for the edible components of its grain. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004672 biolink:NamedThing protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. tmpak2llvmy_mondo_relaxed.owl protamine kinase activity owl:Class MONDO:0007844 biolink:NamedThing hypogonadotropic hypogonadism 2 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in FGFR1|KAL2|Kallmann syndrome 2|HH2|hypogonadotropic hypogonadism 2 with or without anosmia|FGFR1 hypogonadotropic hypogonadism GARD:0003070|OMIM:147950|UMLS:C1563720|DOID:0090083|ICD10:E23.0 owl:Class HGNC:3688 biolink:NamedThing FGFR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1938 biolink:NamedThing CHKB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013607 biolink:NamedThing monocytopenia with susceptibility to infections tmpak2llvmy_mondo_relaxed.owl MonoMAC|DCML|immunodeficiency 21|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|monocytopenia and mycobacterial infection syndrome|immunodeficiency type 21|IMD21|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|monocyte-B-natural killer-dendritic cell deficiency syndrome|monocyte - B - natural killer - dendritic cell deficiency|Dendritic cell, monocyte, B and NK lymphoid deficiency Orphanet:228423|UMLS:C3280030|ICD10:D72.8|OMIM:614172|GARD:0010934 owl:Class ENVO:00000073 biolink:NamedThing building A permanent walled and roofed construction. tmpak2llvmy_mondo_relaxed.owl building|BUILDING owl:Class MONDO:0013485 biolink:NamedThing spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. tmpak2llvmy_mondo_relaxed.owl SCA35|spinocerebellar ataxia 35|spinocerebellar ataxia type 35 UMLS:CN202597|GARD:0012366|SCTID:719300001|DOID:0050982|Orphanet:276193|OMIM:613908|ICD10:G11.8|UMLS:C4304822 owl:Class HGNC:21024 biolink:NamedThing CUL7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010286 biolink:NamedThing midbrain neural tube Portion of neural tube that gives rise to the midbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005030 biolink:NamedThing mucosa of paranasal sinus A mucosa that adjacent_to a paranasal sinus. tmpak2llvmy_mondo_relaxed.owl paranasal sinus mucosa owl:Class NCBITaxon:76803 biolink:NamedThing Arteriviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008231 biolink:NamedThing dorsal thoracic segment of trunk Subdivision of thorax, which in humans is the posterior part of the thorax and is demarcated from the chest by the external surface of the posterolateral part of the rib cage and the anterior surface of the thoracic vertebral column; together with the chest, it constitutes the thorax. tmpak2llvmy_mondo_relaxed.owl upper back|back of thorax|thoracic part of back|dorsum of thorax|posterior part of thorax|thoracic back owl:Class UBERON:0015031 biolink:NamedThing pedal digit 1 phalanx endochondral element A pedal digit 1 phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit 1 phalanx element|pedal digit I phalanx endochondral element|pedal digit 1 phalanx skeletal element owl:Class HP:0002321 biolink:NamedThing Vertigo An abnormal sensation of spinning while the body is actually stationary. tmpak2llvmy_mondo_relaxed.owl Dizzy spell|Dizziness SNOMEDCT_US:399153001|SNOMEDCT_US:271789005|SNOMEDCT_US:404640003|MSH:D004244|MSH:D014717|UMLS:C0012833|UMLS:C0042571|SNOMEDCT_US:399090003 human_phenotype owl:Class MONDO:0044915 biolink:NamedThing salivary duct carcinoma An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. tmpak2llvmy_mondo_relaxed.owl salivary duct carcinoma|duct of salivary gland carcinoma|carcinoma of duct of salivary gland|high grade salivary duct carcinoma|carcinoma of salivary duct|carcinoma of the salivary duct NCIT:C5904|UMLS:C1301194|ONCOTREE:SDCA owl:Class PATO:0000608 biolink:NamedThing closed A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view. tmpak2llvmy_mondo_relaxed.owl blocked owl:Class HGNC:14508 biolink:NamedThing MRPS22 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012253 biolink:NamedThing cervical squamo-columnar junction Region of cervical epithelium where columnar epithelium of endocervic and the stratified non-keratinising squamous epithelium of the ectocervic meet tmpak2llvmy_mondo_relaxed.owl squamocolumnar junction of uterine cervix|squamo-columnar junction of uterine cervix|squamocolumnar junction owl:Class UBERON:0006922 biolink:NamedThing cervix squamous epithelium The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane. tmpak2llvmy_mondo_relaxed.owl cervical squamous epithelium owl:Class UBERON:0006227 biolink:NamedThing ethmoid bone primordium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013490 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2A tmpak2llvmy_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|MLC2A UMLS:C3151355|OMIM:613925|DOID:0080318 owl:Class HGNC:26361 biolink:NamedThing HEPACAM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012756 biolink:NamedThing proximal 16p11.2 microdeletion syndrome The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. tmpak2llvmy_mondo_relaxed.owl chromosome 16p11.2 deletion syndrome, 593-KB|proximal monosomy 16p11.2|microdeletion 16p11.2|monosomy 16p11.2|chromosome 16p11.2 deletion syndrome|proximal del(16)(p11.2)|16p11.2 deletion syndrome|autism, susceptibility to, 14A|Del(16)(p11.2) SCTID:699307007|MESH:C579850|SCTID:718227006|UMLS:CN202166|NCIT:C120408|Orphanet:261197|GARD:0010740|ICD10:Q93.5|ICD9:758.39|OMIM:611913 https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome owl:Class HGNC:5961 biolink:NamedThing IKBKG tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042552 biolink:NamedThing myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpak2llvmy_mondo_relaxed.owl myelinogenesis owl:Class MONDO:0010975 biolink:NamedThing arrhythmogenic right ventricular dysplasia 2 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene. tmpak2llvmy_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 2|arrhythmogenic right ventricular cardiomyopathy 2|ARVC2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 2|ARVD2|arrhythmogenic right ventricular dysplasia type 2|arrhythmogenic right ventricular dysplasia, familial, type 2|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2 ICD10:I42.8|OMIM:600996|DOID:0110071|MESH:C563409|UMLS:C1832931 owl:Class HGNC:10484 biolink:NamedThing RYR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012474 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 4 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene. tmpak2llvmy_mondo_relaxed.owl CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, familial, with nocturnal wandering and Ictal fear|nocturnal frontal lobe epilepsy 4|seizures, benign familial infantile, 6|convulsions, benign familial infantile, 6|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|epilepsy, nocturnal frontal lobe, 4|ENFL4|epilepsy, nocturnal frontal lobe, type 4|autosomal dominant nocturnal frontal lobe epilepsy type 4 OMIM:610353|UMLS:C1835905|DOID:0060685|MESH:C563679 owl:Class HGNC:1956 biolink:NamedThing CHRNA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011258 biolink:NamedThing branchiootic syndrome 1 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpak2llvmy_mondo_relaxed.owl branchiootic syndrome caused by mutation in EYA1|anterior segment anomalies with or without cataract|EYA1 branchiootic syndrome|branchiootic syndrome 1|bo syndrome 1|branchiootic dysplasia|BOS1|branchiootic syndrome type 1 UMLS:C1865143|OMIM:602588 owl:Class HGNC:3519 biolink:NamedThing EYA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012849 biolink:NamedThing Joubert syndrome 9 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in CC2D2A|JBTS9|Joubert syndrome 9|CC2D2A Joubert syndrome|Joubert syndrome type 9|Joubert syndrome 9/15, digenic MESH:C567364|UMLS:C2676788|OMIM:612285|DOID:0111004 owl:Class HGNC:29253 biolink:NamedThing CC2D2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012060 biolink:NamedThing autosomal recessive nonsyndromic deafness 35 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 35|DFNB35|autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|deafness, autosomal recessive 35|autosomal recessive nonsyndromic deafness 35|autosomal recessive nonsyndromic deafness type 35|deafness, autosomal recessive type 35|ESRRB autosomal recessive nonsyndromic deafness UMLS:C1837857|ICD10:H90.3|OMIM:608565|MESH:C563908|DOID:0110493 owl:Class GO:0016209 biolink:NamedThing antioxidant activity Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004545 biolink:NamedThing adult malignant schwannoma A malignant peripheral nerve sheath tumor occurring during adulthood. tmpak2llvmy_mondo_relaxed.owl adult malignant neurilemmoma|adult malignant tumor of the peripheral nerve sheath|adult malignant neoplasm of the peripheral nerve sheath|adult MPNST|adult malignant neoplasm of peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|adult malignant schwannoma|adult malignant peripheral nerve sheath neoplasm|malignant peripheral nerve sheath tumor UMLS:C0278622|DOID:8369|NCIT:C7814 owl:Class OBO:CHR_9606-chr6p2 biolink:NamedThing chr6p2 (Human) tmpak2llvmy_mondo_relaxed.owl 46200000 0 hg38 owl:Class CL:1000376 biolink:NamedThing Purkinje myocyte of interventricular septum A Purkinje myocyte that is part of the interventricular septum. tmpak2llvmy_mondo_relaxed.owl FMA:263182 cell owl:Class MONDO:0012724 biolink:NamedThing familial cold autoinflammatory syndrome 2 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. tmpak2llvmy_mondo_relaxed.owl FCAS2|NAPS12|NLRP12-associated hereditary periodic fever syndrome|NALP12-associated hereditary periodic fever syndrome|NLRP12 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 2|familial cold autoinflammatory syndrome caused by mutation in NLRP12|familial cold autoinflammatory syndrome type 2 MESH:C567090|UMLS:C3897034|Orphanet:247868|UMLS:C2673198|NCIT:C119043|DOID:0090063|OMIM:611762|ICD10:E85.0 owl:Class HGNC:22938 biolink:NamedThing NLRP12 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002333 biolink:NamedThing pulmonary trunk An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. tmpak2llvmy_mondo_relaxed.owl main pulmonary artery|trunk of pulmonary arterial tree|pulmonary artery (trunk) owl:Class HGNC:18183 biolink:NamedThing GIPC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007771 biolink:NamedThing hyperpigmentation with or without hypopigmentation, familial progressive tmpak2llvmy_mondo_relaxed.owl melanosis universalis hereditaria|hyperpigmentation, familial progressive, 2, formerly|melanosis, universal|hyperpigmentation, familial progressive, 2|FPHH|hyperpigmentation with or without hypopigmentation, familial progressive|macules, hereditary congenital hypopigmented and hyperpigmented UMLS:C1835039|OMIM:145250|DOID:0111373 owl:Class HGNC:6343 biolink:NamedThing KITLG tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25896 biolink:NamedThing ORAI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012565 biolink:NamedThing Fanconi anemia complementation group N Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. tmpak2llvmy_mondo_relaxed.owl FANCN|Fanconi anemia, complementation group N|Fanconi anemia caused by mutation in PALB2|Fanconi anemia complementation group type N|Fanconi Anemia, complementation group type N|PALB2 Fanconi anemia|Fanconi anemia complementation group N DOID:0111094|OMIM:610832|MESH:C563657|UMLS:C1835817 owl:Class HGNC:26144 biolink:NamedThing PALB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011945 biolink:NamedThing Gaucher disease perinatal lethal Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). tmpak2llvmy_mondo_relaxed.owl Gaucher disease, perinatal lethal|Gaucher disease, perinatal-lethal form|Gaucher's disease perinatal lethal|Gaucher disease, collodion type|Gaucher disease collodion type|Gaucher disease perinatal lethal|perinatal lethal Gaucher disease|fetal Gaucher disease UMLS:C1842704|DOID:0110960|MESH:C564306|Orphanet:85212|ICD10:E75.2|GARD:0010675|OMIM:608013 https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal owl:Class MONDO:0014402 biolink:NamedThing severe neurodegenerative syndrome with lipodystrophy tmpak2llvmy_mondo_relaxed.owl encephalopathy, progressive, with or without lipodystrophy|severe neurodegenerative syndrome due to BSCL2 deficiency|PELD Orphanet:363400|ICD10:G31.8|OMIM:615924|UMLS:C4014700 owl:Class HGNC:15832 biolink:NamedThing BSCL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014032 biolink:NamedThing brachydactyly type A1C Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. tmpak2llvmy_mondo_relaxed.owl brachydactyly, type A1, C|GDF5 brachydactyly type A1|brachydactyly type A1 caused by mutation in GDF5|BDA1C OMIM:615072|DOID:0110977|UMLS:C3554446 owl:Class UBERON:0005248 biolink:NamedThing bulbus cordis myocardium A myocardium that is part of a bulbus cordis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bulbus cordis cardiac muscle owl:Class CL:0002056 biolink:NamedThing Fraction F mature B cell A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-04-30T03:01:48Z cell owl:Class Nd682f0b8cc6e48748438b4957bcc9826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:21057 biolink:NamedThing RSPH9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009879 biolink:NamedThing short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|KOWARSKI syndrome|Biodefective Growth hormone|Kowarski syndrome OMIM:262650|ICD10:E23.0|MESH:C537505|UMLS:C1849779|Orphanet:629|GARD:0000408 owl:Class HsapDv:0000116 biolink:NamedThing 22-year-old human stage Young adult stage that refers to an adult who is over 22 and under 23. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35703 biolink:NamedThing xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. tmpak2llvmy_mondo_relaxed.owl Xenobiotic|xenobiotics|xenobiotic|xenobiotic compounds owl:Class MONDO:0012523 biolink:NamedThing retinitis pigmentosa 36 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 36|retinitis pigmentosa 36|RP36|PRCD retinitis pigmentosa|RP 36|retinitis pigmentosa caused by mutation in PRCD MESH:C566431|DOID:0110405|UMLS:C1864621|OMIM:610599|ICD10:H35.5|GARD:0010403 https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36 owl:Class HGNC:32528 biolink:NamedThing PRCD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011566 biolink:NamedThing lumen of esophagus An anatomical cavity that is part of a esophagus. tmpak2llvmy_mondo_relaxed.owl esophageal cavity|eosophageal cavity|eosophageal lumen|cavity of eosophagus|cavity of esophagus|esophageal lumen|eosophagus lumen|esophagus lumen owl:Class GO:0072359 biolink:NamedThing circulatory system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. tmpak2llvmy_mondo_relaxed.owl cardiovascular system development owl:Class UBERON:0003568 biolink:NamedThing neck connective tissue A portion of connective tissue that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neck (volume) connective tissue|textus connectivus of neck|neck (volume) textus connectivus|connective tissue of neck|textus connectivus of neck (volume)|portion of connective tissue of neck (volume)|neck portion of connective tissue|portion of connective tissue of neck|connective tissue of neck (volume)|neck (volume) portion of connective tissue|neck textus connectivus owl:Class GO:0042092 biolink:NamedThing type 2 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. tmpak2llvmy_mondo_relaxed.owl Th2 immune response|T-helper 2 type immune response owl:Class UBERON:0035814 biolink:NamedThing pericardial fat The sum of epicardial and paracardial fat deposits. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003362 biolink:NamedThing cutaneous leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl zone of skin leiomyosarcoma|cutaneous leiomyosarcoma|leiomyosarcoma of skin|cutaneous leiomyosarcoma (disease)|leiomyosarcoma of zone of skin|leiomyosarcoma of the skin|skin leiomyosarcoma cutaneous leiomyosarcoma (disease) NCIT:C4484|DOID:5273|UMLS:C0346067|HP:0006755|SCTID:254771006 owl:Class UBERON:0003726 biolink:NamedThing thoracic nerve The twelve spinal nerves on each side of the thorax. They include eleven INTERCOSTAL NERVES and one subcostal nerve. Both sensory and motor, they supply the muscles and skin of the thoracic and abdominal walls. tmpak2llvmy_mondo_relaxed.owl thoracic spinal nerve|pectoral nerve|nervus thoracis|nervi thoracici owl:Class MONDO:0016573 biolink:NamedThing acute fatty liver of pregnancy Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. tmpak2llvmy_mondo_relaxed.owl acute fatty liver, gestational|AFLP GARD:0009578|MESH:C537957|ICD10:O26.6|UMLS:C1455728|Orphanet:243367|MedDRA:10000746|SCTID:716379000 https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy owl:Class UBERON:0005484 biolink:NamedThing tricuspid valve leaflet A valve leaflet that is part of a tricuspid valve. tmpak2llvmy_mondo_relaxed.owl tricuspid valve leaflet|leaflet of tricuspid valve|tricuspid valve leaflets|tricuspid valvular leaflet owl:Class MONDO:0010148 biolink:NamedThing Mounier-Kuhn syndrome Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. tmpak2llvmy_mondo_relaxed.owl Mounier-Kühn syndrome|congenital tracheobronchomegaly|tracheobronchomegaly|idiopathic tracheobronchomegaly|Mounier Kuhn syndrome|Mounier-Kuhn syndrome Orphanet:3347|UMLS:C0040587|ICD10:J98.0|UMLS:C2713583|GARD:0005234|SCTID:57451009|MedDRA:10044316|MESH:D014137|ICD9:748.3|GARD:0003793|NCIT:C85196|OMIM:275300 owl:Class HGNC:4135 biolink:NamedThing GALT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012963 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 3 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene. tmpak2llvmy_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, 3|ACE microvascular complications of diabetes, susceptibility|nephropathy, diabetic, susceptibility to|MVCD3|microvascular complications of diabetes, susceptibility caused by mutation in ACE|microvascular complications of diabetes, susceptibility to, type 3|end-stage renal disease, diabetic, susceptibility to OMIM:612624 owl:Class NCBITaxon:11673 biolink:NamedThing Feline immunodeficiency virus tmpak2llvmy_mondo_relaxed.owl feline immunodeficiency virus FIV|FIV GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr2p16 biolink:NamedThing chr2p16 (Human) tmpak2llvmy_mondo_relaxed.owl 61000000 47500000 hg38 owl:Class MONDO:0014408 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene. tmpak2llvmy_mondo_relaxed.owl megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|MPPH3 OMIM:615938|UMLS:C4014742 owl:Class HGNC:1583 biolink:NamedThing CCND2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007399 biolink:NamedThing nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. tmpak2llvmy_mondo_relaxed.owl pan-neural process owl:Class MONDO:0009486 biolink:NamedThing autosomal recessive Kenny-Caffey syndrome An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. tmpak2llvmy_mondo_relaxed.owl Kenny-Caffey syndrome, type 1|KCS1|Kenny-Caffey syndrome type 1|Kenny-Caffey syndrome, autosomal recessive|Kcs ICD10:Q87.1|MESH:C537021|OMIM:244460|NCIT:C130992|UMLS:C1855648|Orphanet:93324|GARD:0008367 https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 owl:Class HP:0100267 biolink:NamedThing Lip pit A depression located on a lip. tmpak2llvmy_mondo_relaxed.owl UMLS:C0341059 doelkens 2010-07-20T04:06:32Z human_phenotype owl:Class MONDO:0006452 biolink:NamedThing thymic sarcomatoid carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpak2llvmy_mondo_relaxed.owl Thymus sarcomatoid carcinoma|thymic carcinosarcoma|thymic spindle cell carcinoma|thymus sarcomatoid carcinoma|sarcomatoid carcinoma of Thymus|thymic sarcomatoid carcinoma|sarcomatoid carcinoma of the Thymus DOID:8138|NCIT:C6463|UMLS:C1335924|EFO:1000577 owl:Class UBERON:0015783 biolink:NamedThing smooth muscle layer in fatty layer of subcutaneous tissue A smooth muscle tissue that is part of a hypodermis. tmpak2llvmy_mondo_relaxed.owl muscle layer in fatty layer of subcutaneous tissue|stratum musculosum panniculi adiposi telae subcutaneae owl:Class HGNC:17091 biolink:NamedThing NCSTN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009395 biolink:NamedThing hyperostosis corticalis generalisata Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. tmpak2llvmy_mondo_relaxed.owl van Buchem disease type 1|VAN Buchem disease|hyperostosis corticalis generalisata|endosteal hyperostosis autosomal recessive|van Buchem disease|Van Buchem disease|hyperphosphatasemia tarda|VBCH|endosteal hyperostosis, autosomal recessive|endosteal hyperostosis|SOST-related sclerosing bone dysplasia DOID:0080036|Orphanet:3416|SCTID:59763006|ICD10:M85.2|GARD:0002833|NCIT:C131812|OMIM:239100 owl:Class MONDO:0013509 biolink:NamedThing intellectual disability, autosomal dominant 6 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 6|mental retardation, autosomal dominant type 6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|autosomal dominant intellectual disability 6|autosomal dominant non-syndromic intellectual disability 6|MRD6|GRIN2B autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant type 6|intellectual disability, autosomal dominant 6|mental retardation, autosomal dominant 6 UMLS:C3151411|DOID:0070036|OMIM:613970 owl:Class OBO:MFOMD_0000001 biolink:NamedThing mental disease A disease which is a disposition to undergo pathological mental processes. tmpak2llvmy_mondo_relaxed.owl mental health condition The Mental Disease ontology follows the strategy of the Ontology of General Medical Science in distinguishing mental disease, mental disorder, diagnosis of mental disease, mental disease course and pathological mental process as separately distinguishable entities. Here is a quick guide to how these terms are used in this ontology. A mental disease is an underlying disposition to pathological mental processes. A mental disease course is the sum of the pathological mental processes that are caused by the underlying disease. A pathological mental process is a pathological process caused by a mental disease. A mental disorder is a physical disorder, for example, dysfunctional neurotransmitter receptors, altered brain connectivity, missing or damaged brain parts etc. The disorder is the material basis for the disease and it is by virtue of the disorder that the disease causes the pathological processes that form part of the disease course. A diagnosis of a mental disease is a clinician's statement that a patient has a mental disease by virtue of observable manifestations of that disease, such as behaviour, observable aspects of the underlying disorder, or self-reported experiences. http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0013371 biolink:NamedThing dilated cardiomyopathy 1U Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. tmpak2llvmy_mondo_relaxed.owl CMD1U|cardiomyopathy, dilated, 1U|PSEN1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|cardiomyopathy, dilated, type 1U|dilated cardiomyopathy type 1U UMLS:C3160720|ICD10:I42.0|DOID:0110455|MESH:C566296|OMIM:613694 owl:Class HGNC:11244 biolink:NamedThing SPINK1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5320 biolink:NamedThing HYAL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014440 biolink:NamedThing Bardet-Biedl syndrome 12 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome type 12|BBS12|Bardet-Biedl syndrome 12|BBS12 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS12 OMIM:615989|UMLS:C1859570|ICD10:Q87.89|DOID:0110134|GARD:0010211|EFO:0009023|MESH:C565921 owl:Class HGNC:26648 biolink:NamedThing BBS12 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10680 biolink:NamedThing SDHA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001283 biolink:NamedThing endosalpingiosis A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain. tmpak2llvmy_mondo_relaxed.owl endosalpingiosis NCIT:C40121|DOID:11427|SCTID:55850004|UMLS:C0269106 owl:Class MONDO:0005133 biolink:NamedThing endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. tmpak2llvmy_mondo_relaxed.owl endometriosis|endometriosis (disease) endometriosis (disease) NCIT:C3014|SCTID:129103003|ICD9:617|HP:0030127|ICD9:617.9|MESH:D004715|ICD9:617.8|ICD10:N80|ICD10:N80.9|DOID:289|EFO:0001065 owl:Class UBERON:0003052 biolink:NamedThing midbrain-hindbrain boundary The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. tmpak2llvmy_mondo_relaxed.owl midbrain hindbrain boundary|isthmic organizer territory|mid-hindbrain junction|MHB|isthmus|isthmo-cerebellar region|isthmus/MHB|mid-hindbrain boundary owl:Class GO:0043025 biolink:NamedThing neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. tmpak2llvmy_mondo_relaxed.owl neuronal cell soma|neuron cell body owl:Class GO:0070561 biolink:NamedThing vitamin D receptor signaling pathway The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands. tmpak2llvmy_mondo_relaxed.owl calcitriol signaling pathway|VDR signaling pathway|vitamin D receptor signalling pathway owl:Class ENVO:00000447 biolink:NamedThing marine biome An aquatic biome which is determined by a marine water body. tmpak2llvmy_mondo_relaxed.owl marine realm owl:Class MONDO:0003818 biolink:NamedThing childhood mature teratoma of the ovary A mature teratoma that arises from the ovary and occurs in children. tmpak2llvmy_mondo_relaxed.owl childhood mature teratoma of ovary|mature ovarian teratoma of childhood|pediatric ovarian mature teratoma|childhood mature ovarian teratoma|pediatric mature teratoma of the ovary|childhood ovarian mature teratoma|pediatric mature ovarian teratoma|pediatric mature teratoma of ovary UMLS:C1332991|DOID:6229|NCIT:C6548 owl:Class UBERON:0004468 biolink:NamedThing set of muscles of vertebral column tmpak2llvmy_mondo_relaxed.owl muscle group of vertebral column owl:Class MONDO:0009066 biolink:NamedThing juvenile nephropathic cystinosis Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpak2llvmy_mondo_relaxed.owl intermediate cystinosis|juvenile nephropathic cystinosis|cystinosis, late-onset juvenile or adolescent nephropathic type|cystinosis, intermediate|juvenile cystinosis ICD10:N16.3*|UMLS:C0268626|SCTID:22830006|OMIM:219900|Orphanet:411634|ICD10:E72.0+|MESH:C562683|EFO:0009049 owl:Class GO:0042745 biolink:NamedThing circadian sleep/wake cycle The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410033 biolink:NamedThing lymph node vein A vein where lymph node venules condense and which exits at the lymph node hilum. It is also called hilar vein. tmpak2llvmy_mondo_relaxed.owl hilar vein of lymph node|vein of lymph node owl:Class CHEBI:48854 biolink:NamedThing sulfurous acid tmpak2llvmy_mondo_relaxed.owl Sulfurous acid|schweflige Saeure|S(O)(OH)2|acide sulfureux|sulfurous acid|trioxosulfuric acid|acido sulfuroso|[SO(OH)2]|dihydroxidooxidosulfur|sulphurous acid|dihydrogen trioxosulfate|H2SO3|Sulfite owl:Class MONDO:0013834 biolink:NamedThing UV-sensitive syndrome 3 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. tmpak2llvmy_mondo_relaxed.owl UVSSA UV-sensitive syndrome|UV-sensitive syndrome caused by mutation in UVSSA|UVSS3|UV-sensitive syndrome type 3|UV-sensitive syndrome 3 UMLS:C3553328|OMIM:614640 owl:Class HGNC:29304 biolink:NamedThing UVSSA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4083 biolink:NamedThing GABRB3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001492 biolink:NamedThing radial nerve A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin. tmpak2llvmy_mondo_relaxed.owl nervus radialis owl:Class UBERON:0010846 biolink:NamedThing radius pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a radius bone. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008057 biolink:NamedThing Carney complex, type 1 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. tmpak2llvmy_mondo_relaxed.owl name syndrome|Carney complex caused by mutation in PRKAR1A|CNC1|lamb syndrome|PRKAR1A Carney complex|Carney syndrome|myxoma, spotty pigmentation, and endocrine overactivity|Carney complex, type 1|Carney Myxoma-endocrine Complex OMIM:160980 owl:Class HP:0003249 biolink:NamedThing Genital ulcers tmpak2llvmy_mondo_relaxed.owl Genital ulcers UMLS:C0151281 human_phenotype owl:Class MONDO:0007395 biolink:NamedThing craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features. tmpak2llvmy_mondo_relaxed.owl craniofacial-deafness-hand syndrome|CDHS|Sommer-Young-Wee-Frye syndrome|craniofacial deafness hand syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss DOID:0111336|SCTID:702362004|ICD10:Q87.0|GARD:0001571|Orphanet:1529|OMIM:122880|ICD9:759.89|MESH:C536453 https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome owl:Class HGNC:8617 biolink:NamedThing PAX3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003350 biolink:NamedThing epithelium of mucosa A layer of epithelial cells on the surface of the mucosa. tmpak2llvmy_mondo_relaxed.owl lamina epithelialis mucosa|lamina epithelialis mucosae owl:Class HP:0002202 biolink:NamedThing Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. tmpak2llvmy_mondo_relaxed.owl Fluid around lungs UMLS:C0032227|MSH:D010996|SNOMEDCT_US:60046008 human_phenotype owl:Class CHEBI:22978 biolink:NamedThing cadmium molecular entity tmpak2llvmy_mondo_relaxed.owl cadmium molecular entities|cadmium compounds owl:Class UBERON:0006010 biolink:NamedThing hyaloid canal A small transparent canal running through the vitreous body from the optical nerve disc to the lens. It is formed by an invagination of the hyaloid, a membrane which encloses the vitreous body[WP]. tmpak2llvmy_mondo_relaxed.owl Cloquet's canal|Stilling's canal|canalis hyaloideus|canal of Cloquet owl:Class HGNC:24265 biolink:NamedThing PTRH2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140014 biolink:NamedThing mitotic nuclear division A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. tmpak2llvmy_mondo_relaxed.owl mitosis owl:Class UBERON:0012361 biolink:NamedThing internal anal region tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3959 biolink:NamedThing FRZB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1905651 biolink:NamedThing regulation of artery morphogenesis Any process that modulates the frequency, rate or extent of artery morphogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of arteriogenesis|regulation of arterial morphogenesis owl:Class CL:0002546 biolink:NamedThing embryonic blood vessel endothelial progenitor cell An endothelial progenitor cell that participates in angiogenesis during development. tmpak2llvmy_mondo_relaxed.owl See CL:0002619. tmeehan 2011-02-28T04:20:39Z cell owl:Class CL:0000623 biolink:NamedThing natural killer cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. tmpak2llvmy_mondo_relaxed.owl NK cell|null cell|large granular lymphocyte VHOG:0001697|FMA:63147|BTO:0004716|CALOHA:TS-0664|BTO:0000914|FMA:83601 cell owl:Class HGNC:53 biolink:NamedThing ABCC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004252 biolink:NamedThing small intestinal L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpak2llvmy_mondo_relaxed.owl small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine|small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell glucagon-like peptide-producing NET|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor UMLS:C3274143|NCIT:C27452|DOID:7506 owl:Class MONDO:0045018 biolink:NamedThing creatine biosynthetic process disease A disease that has its basis in the disruption of creatine biosynthetic process. tmpak2llvmy_mondo_relaxed.owl disorder of creatine biosynthetic process|creatine synthesis disease|disorder of creatine synthesis UMLS:C0574079|SCTID:297226004 owl:Class MONDO:0012013 biolink:NamedThing glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. tmpak2llvmy_mondo_relaxed.owl glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|Weill-Marchesani syndrome, autosomal dominant|GEMSS syndrome|Weill-Marchesani syndrome type 2|GEMSS|Weill-Marchesani syndrome 2|mesodermal Dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|WMS2 OMIM:608328|ICD10:Q87.1|SCTID:722450007|GARD:0002452|Orphanet:2084 owl:Class HGNC:16947 biolink:NamedThing ERLIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001296 biolink:NamedThing acquired night blindness An instance of night blindness that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired night blindness SCTID:53808001|ICD9:368.62|ICD10:H53.62|DOID:11491 owl:Class GO:0045202 biolink:NamedThing synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. tmpak2llvmy_mondo_relaxed.owl mixed synapse|synaptic junction|electrotonic synapse owl:Class UBERON:0015025 biolink:NamedThing manual digit 1 phalanx endochondral element A manual digit 1 phalanx bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl manual digit 1 phalanx skeletal element|manual digit 1 phalanx element|manual digit I phalanx endochondral element owl:Class HP:0000768 biolink:NamedThing Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. tmpak2llvmy_mondo_relaxed.owl Pigeon chest SNOMEDCT_US:205101001|UMLS:C0158731|MSH:D066166 HP:0006639 human_phenotype owl:Class CL:0002622 biolink:NamedThing prostate stromal cell A stromal cell of the prostate. tmpak2llvmy_mondo_relaxed.owl BTO:0003972 tmeehan 2011-03-14T02:11:10Z cell owl:Class ENVO:00002982 biolink:NamedThing clay A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002619 biolink:NamedThing bone fibrosarcoma A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl bone tissue fibrosarcoma (disease)|bone fibrosarcoma|fibrosarcoma of the bone|fibrosarcoma of bone DOID:3354|UMLS:C2733623|NCIT:C6604 owl:Class HGNC:124 biolink:NamedThing ACP5 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:64996 biolink:NamedThing EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33). tmpak2llvmy_mondo_relaxed.owl 15-lipoxygenase inhibitor|omega(6) lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|arachidonate 15-lipoxygenase inhibitors|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitors|omega(6) lipoxygenase inhibitor|linoleic acid omega(6)-lipoxygenase inhibitors|EC 1.13.11.33 inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor|EC 1.13.11.33 inhibitors|arachidonate 15-lipoxygenase inhibitor|15-lipoxygenase inhibitors|15-LOX inhibitor|15-LOX inhibitors owl:Class MONDO:0010362 biolink:NamedThing glycogen storage disease IXd A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. tmpak2llvmy_mondo_relaxed.owl glycogen storage disease due to muscle phosphorylase kinase deficiency|GSD Vb|PHKA1 glycogen storage disease|GSD9D|glycogenosis type 9D|muscle glycogenosis, X-linked|GSD type 9D|GSD type IXd|glycogen storage disease, type IXd|PHKA1-related glycogen storage disease type IX|GSD IXd|muscular phosphorylase kinase deficiency|glycogen storage disease caused by mutation in PHKA1|glycogen storage disease type IXd|glycogen storage disease type 9D|muscle phosphorylase kinase deficiency|glycogenosis type IXd|glycogenosis due to muscle phosphorylase kinase deficiency|GSD due to muscle phosphorylase kinase deficiency Orphanet:715|ICD10:E74.0|GARD:0003858|MESH:C564485|OMIM:300559|DOID:0111040 https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency owl:Class MONDO:0021522 biolink:NamedThing benign neoplasm of lower jaw bone A benign neoplasm that involves the bone of lower jaw. tmpak2llvmy_mondo_relaxed.owl bone of lower jaw benign neoplasm SCTID:92208007|NCIT:C34417|ICD10:D16.5|ICD9:213.1|UMLS:C0004994 owl:Class HGNC:2505 biolink:NamedThing CTLA4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001802 biolink:NamedThing posterior segment of eyeball any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) tmpak2llvmy_mondo_relaxed.owl posterior segment of the eye|posterior segment of eye|posterior segment eye|segmentum posterius bulbi oculi|eye posterior segment|posterior eye segment|segmentum posterius (bulbus oculi) owl:Class UBERON:0004427 biolink:NamedThing proximal epiphysis of first metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl base of first metatarsal bone|proximal epiphysis of metatarsal 1|proximal end of first metatarsal bone owl:Class HGNC:4056 biolink:NamedThing G6PC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019084 biolink:NamedThing radiation proctitis Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. tmpak2llvmy_mondo_relaxed.owl Orphanet:70475|MedDRA:10037766|ICD10:K62.7|SCTID:235760009|ICD9:569.49 owl:Class UBERON:0006056 biolink:NamedThing posterior surface of head tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016143 biolink:NamedThing qualitative or quantitative defects of gamma-sarcoglycan tmpak2llvmy_mondo_relaxed.owl gamma-sarcoglycanopathy Orphanet:207067 owl:Class MONDO:0013651 biolink:NamedThing intellectual disability, autosomal recessive 18 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic mental retardation-18|autosomal recessive nonsyndromic intellectual disability-18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23|intellectual disability, autosomal recessive 18|mental retardation, autosomal recessive type 18|MED23 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 18|MRT18|MED23|mental retardation, autosomal recessive 18 GARD:0012233|OMIM:614249|UMLS:C3280265 owl:Class HGNC:2372 biolink:NamedThing MED23 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003469 biolink:NamedThing respiratory system artery An artery that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006292 biolink:NamedThing shoulder joint primordium tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003322 biolink:NamedThing mesenchyme of shoulder Mesenchyme that is part of a developing shoulder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl shoulder mesenchyme owl:Class CL:0002572 biolink:NamedThing vertebral mesenchymal stem cell A mesenchymal stem cell of the vertebrae. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-01T10:40:27Z cell owl:Class HGNC:8754 biolink:NamedThing PCYT1A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002088 biolink:NamedThing lens development in camera-type eye The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpak2llvmy_mondo_relaxed.owl lens development in camera-style eye|lens development owl:Class UBERON:0004338 biolink:NamedThing proximal phalanx of manual digit 1 A proximal phalanx that is part of a hand digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal phalanx of thumb|proximal phalanx of manual digit I|proximal phalanx of first digit of hand|manual digit 1 proximal phalanx|thumb proximal|manual phalanx I-1|first proximal phalanx of hand owl:Class MONDO:0012729 biolink:NamedThing erythrocytosis, familial, 4 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene. tmpak2llvmy_mondo_relaxed.owl erythrocytosis, familial, 4|ECYT4|familial polycythemia caused by mutation in EPAS1|EPAS1 familial polycythemia|erythrocytosis, familial, type 4 MESH:C567086|DOID:0080339|UMLS:C2673187|OMIM:611783 owl:Class HGNC:20439 biolink:NamedThing UPF3B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013342 biolink:NamedThing hereditary spastic paraplegia 48 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 48|hereditary spastic paraplegia caused by mutation in AP5Z1|autosomal recessive spastic paraplegia 48|autosomal recessive spastic paraplegia type 48|SPG48|AP5Z1 hereditary spastic paraplegia|spastic paraplegia 48, autosomal recessive SCTID:763367009|OMIM:613647|UMLS:C3150901|Orphanet:306511|ICD10:G11.4|DOID:0110800 owl:Class HGNC:22197 biolink:NamedThing AP5Z1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6255 biolink:NamedThing KCNJ1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006103 biolink:NamedThing benign adrenal gland pheochromocytoma A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. tmpak2llvmy_mondo_relaxed.owl pheochromocytoma, benign|benign adrenal gland pheochromocytoma|adrenal gland pheochromocytoma, benign EFO:1000106|NCIT:C48305 owl:Class CL:0007004 biolink:NamedThing premigratory neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. tmpak2llvmy_mondo_relaxed.owl haendel 2012-06-27T08:27:35Z cell owl:Class NCBITaxon:1980476 biolink:NamedThing Laguna Negra orthohantavirus tmpak2llvmy_mondo_relaxed.owl Laguna Negra virus|Laguna Negra hantavirus GC_ID:1 NCBITaxon:61172 ncbi_taxonomy owl:Class UBERON:0010323 biolink:NamedThing cranial skeletal system Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. tmpak2llvmy_mondo_relaxed.owl cranium|cranial skeleton|osteocranium owl:Class GO:1900076 biolink:NamedThing regulation of cellular response to insulin stimulus Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001293 biolink:NamedThing outer medulla of kidney The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. tmpak2llvmy_mondo_relaxed.owl zona externa medullae renalis|outer zone of medulla of kidney|zona externa (medullaris renalis)|set of outer region of renal pyramids|kidney outer medulla|renal outer medulla|outer zone of renal medulla|outer renal medulla owl:Class MONDO:0014116 biolink:NamedThing complex cortical dysplasia with other brain malformations 2 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. tmpak2llvmy_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 2|CDCBM2|KIF5C complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|cortical dysplasia, complex, with other brain malformations 2 OMIM:615282|UMLS:C3809013|DOID:0090133 owl:Class HGNC:14270 biolink:NamedThing PCDH19 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003455 biolink:NamedThing inner renal medulla loop of Henle A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl loop of Henle, inner medullary portion|kidney inner medulla loop of Henle owl:Class HGNC:11036 biolink:NamedThing SLC5A1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11146 biolink:NamedThing Porcine respiratory coronavirus tmpak2llvmy_mondo_relaxed.owl porcine respiratory virus|porcine respiratory coronavirus PRCV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011475 biolink:NamedThing Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 4B2|CMT4B2|Charcot Marie Tooth disease type 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|CMT 4B2|SBF2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2 ICD10:G60.0|GARD:0009200|Orphanet:99956|SCTID:715800000|DOID:0110190|UMLS:C1858278|OMIM:604563|MESH:C535421 https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 owl:Class HGNC:2135 biolink:NamedThing SBF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020677 biolink:NamedThing sudden hearing loss disorder tmpak2llvmy_mondo_relaxed.owl SCTID:79471008 owl:Class HGNC:2389 biolink:NamedThing CRYAB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1901857 biolink:NamedThing positive regulation of cellular respiration Any process that activates or increases the frequency, rate or extent of cellular respiration. tmpak2llvmy_mondo_relaxed.owl up-regulation of cellular respiration|positive regulation of oxidative metabolism|positive regulation of respiration|up regulation of oxidative metabolic process|upregulation of respiration|activation of cellular respiration|activation of respiration|up regulation of oxidative metabolism|up regulation of cellular respiration|upregulation of cellular respiration|positive regulation of oxidative metabolic process|upregulation of oxidative metabolic process|up-regulation of respiration|activation of oxidative metabolic process|up-regulation of oxidative metabolic process|up regulation of respiration|activation of oxidative metabolism|upregulation of oxidative metabolism|up-regulation of oxidative metabolism owl:Class MONDO:0014275 biolink:NamedThing Fanconi renotubular syndrome 3 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. tmpak2llvmy_mondo_relaxed.owl Fanconi syndrome caused by mutation in EHHADH|FRTS3|EHHADH Fanconi syndrome|Fanconi renotubular syndrome 3|Fanconi renotubular syndrome type 3 OMIM:615605|UMLS:C3810100 owl:Class HGNC:3247 biolink:NamedThing EHHADH tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0011007 biolink:NamedThing paraxial cell A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites. tmpak2llvmy_mondo_relaxed.owl somitic mesoderm cell|paraxial mesoderm cell|presomitic mesoderm cell owl:Class NCBITaxon:11118 biolink:NamedThing Coronaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1000600 biolink:NamedThing lower urinary tract cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001115 cell owl:Class OBO:CHR_9606-chrXq27.2 biolink:NamedThing chrXq27.2 (Human) tmpak2llvmy_mondo_relaxed.owl 143000000 141200000 hg38 owl:Class MONDO:0003026 biolink:NamedThing gallbladder angiosarcoma An angiosarcoma that is located in the gallbladder. tmpak2llvmy_mondo_relaxed.owl hemangiosarcoma of gallbladder|gall bladder angiosarcoma (disease)|hemangiosarcoma of the gallbladder|gallbladder angiosarcoma|angiosarcoma of gallbladder|angiosarcoma (disease) of gall bladder|gallbladder hemangiosarcoma|angiosarcoma of the gallbladder NCIT:C5840|DOID:4513|UMLS:C1333742 owl:Class HGNC:12827 biolink:NamedThing XPR1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036217 biolink:NamedThing coelomic fluid A bodily fluid that is located in the coelom. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013515 biolink:NamedThing osteogenesis imperfecta type 6 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta type VI|SERPINFI- related osteogenesis imperfecta|OI type 6|SERPINF1 osteogenesis imperfecta|osteogenesis imperfecta type|osteogenesis imperfecta, type VI|osteogenesis imperfecta caused by mutation in SERPINF1|OI6|OI type VI|osteogenesis imperfecta, type 6 ICD10:Q78.0|OMIM:613982|UMLS:C3279564|MESH:C536047|DOID:0110350|GARD:0008700 owl:Class HGNC:8824 biolink:NamedThing SERPINF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012147 biolink:NamedThing coronary heart disease, susceptibility to, 5 Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to coronary heart disease 5|coronary artery disease caused by mutation in KALRN|coronary heart disease, susceptibility to, type 5|KALRN coronary artery disease|coronary artery disease, early-onset|Chds5|coronary heart disease, susceptibility to, 5 OMIM:608901 owl:Class HGNC:4814 biolink:NamedThing KALRN tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002045 biolink:NamedThing dendritic A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. tmpak2llvmy_mondo_relaxed.owl dendroidal|dendroid|dendriform owl:Class HGNC:20661 biolink:NamedThing SLC25A26 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024558 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. tmpak2llvmy_mondo_relaxed.owl Rusat|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|RUSAT1|thrombocytopenia, congenital, with radioulnar synostosis|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM:605432 owl:Class MONDO:0004231 biolink:NamedThing spindle cell variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. tmpak2llvmy_mondo_relaxed.owl metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant ONCOTREE:MASCC|UMLS:C1519487|NCIT:C40358|DOID:7460 owl:Class UBERON:0005321 biolink:NamedThing mesonephric smooth muscle tissue . tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5102 biolink:NamedThing HOXA13 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009882 biolink:NamedThing anal column One of a number of vertical folds, produced by an infolding of the mucous membrane and some of the muscular tissue in the upper half of the lumen of the anal canal[WP] tmpak2llvmy_mondo_relaxed.owl column of Morgagni|columnae anales owl:Class PATO:0001910 biolink:NamedThing folded A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007608 biolink:NamedThing sensory perception of smell The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. tmpak2llvmy_mondo_relaxed.owl olfaction|sense of smell|scent perception|smell perception owl:Class UBERON:0005200 biolink:NamedThing thoracic mammary gland A lactiferous gland that is located in the thoracic region/breast. tmpak2llvmy_mondo_relaxed.owl mammary gland|lactiferous gland|anterior mammary gland|breast mammary gland owl:Class MONDO:0010807 biolink:NamedThing autosomal recessive nonsyndromic deafness 2 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 2|deafness, autosomal recessive type 2|DFNB2|MYO7A autosomal recessive nonsyndromic deafness|autosomal recessive deafness 2|neurosensory nonsyndromic recessive deafness 2|autosomal recessive nonsyndromic deafness type 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A DOID:0110477|UMLS:C1838701|OMIM:600060|ICD10:H90.3|MESH:C564007 owl:Class HGNC:7606 biolink:NamedThing MYO7A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003404 biolink:NamedThing lobar bronchus of right lung A lobar bronchus that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right lung secondary bronchus|secondary bronchus of right lung|right lung lobar bronchus|right lobar bronchus owl:Class UBERON:0005446 biolink:NamedThing foramen rotundum The foramen rotundum is a circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa. tmpak2llvmy_mondo_relaxed.owl foramen rotundum ossis sphenoidalis|round foramen|foramen rotundum of the skull owl:Class UBERON:0009767 biolink:NamedThing proximal interphalangeal joint An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx. tmpak2llvmy_mondo_relaxed.owl PIJ joint|PIP joint owl:Class MONDO:0008223 biolink:NamedThing hypokalemic periodic paralysis Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. tmpak2llvmy_mondo_relaxed.owl HKPP|Westphall disease|familial hypokalemic periodic paralysis|familial periodic paralysis (& [hypokalaemic])|hypokalemic periodic paralysis|periodic hypokalemic paralysis|hypokalemic familial periodic paralysis|HypoPP|periodic paralysis I|HOKPP UMLS:C0238358|NCIT:C84775|GARD:0006729|SCTID:82732003|ICD10:G72.3|Orphanet:681|DOID:14452|MESH:D020514 https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis owl:Class HP:0002900 biolink:NamedThing Hypokalemia An abnormally decreased potassium concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Low blood potassium levels SNOMEDCT_US:166690008|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:43339004 human_phenotype owl:Class UBERON:0018707 biolink:NamedThing bladder organ A membranous sac in animals that serves as the receptacle of a liquid or contains gas. tmpak2llvmy_mondo_relaxed.owl bladder owl:Class MONDO:0020338 biolink:NamedThing adult pure red cell aplasia Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. tmpak2llvmy_mondo_relaxed.owl adult pure red-cell aplasia|pure red-cell aplasia of adults|acquired PRCA|idiopathic pure red cell aplasia|acquired pure red cell aplasia NCIT:C70548|ICD10:D60.0|SCTID:765748009|UMLS:C0340961|GARD:0010898|Orphanet:98872 owl:Class FOODON:03303918 biolink:NamedThing human milk (raw) Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child. tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F3918 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) https://en.wikipedia.org/wiki/Breast_milk http://langual.org subset_siren owl:Class MONDO:0033304 biolink:NamedThing nonsyndromic deafness, Y-linked tmpak2llvmy_mondo_relaxed.owl OMIMPS:400043 owl:Class OBO:CHR_9606-chr9 biolink:NamedThing chr9 (Human) tmpak2llvmy_mondo_relaxed.owl 138394717 0 hg38 owl:Class HsapDv:0000087 biolink:NamedThing human adult stage Human developmental stage that refers to an adult who is over 19. tmpak2llvmy_mondo_relaxed.owl 19+ years owl:Class ECTO:9001804 biolink:NamedThing exposure to protein synthesis inhibitor An exposure to protein synthesis inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to protein synthesis inhibitor owl:Class CHEBI:48001 biolink:NamedThing protein synthesis inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. tmpak2llvmy_mondo_relaxed.owl protein synthesis antagonists|protein synthesis inhibitors|protein synthesis antagonist owl:Class MONDO:0054582 biolink:NamedThing Townes-Brocks syndrome 2 tmpak2llvmy_mondo_relaxed.owl TBS2|Townes-Brocks syndrome 2 OMIM:617466 owl:Class MONDO:0013308 biolink:NamedThing CBL-related disorder CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. tmpak2llvmy_mondo_relaxed.owl Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|Noonan-like syndrome|Cbl mutation-associated syndrome|NSLL|Noonan syndrome-like disorder with JMML|Cbl syndrome|CBL-related disorder|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia UMLS:C3150803|Orphanet:363972|ICD10:Q87.1|UMLS:C4016301|OMIM:613563 owl:Class HGNC:1541 biolink:NamedThing CBL tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11709 biolink:NamedThing Human immunodeficiency virus 2 tmpak2llvmy_mondo_relaxed.owl HIV2|Human immunodeficiency virus type 2|human immunodeficiency virus type 2, HIV-2|HIV type 2|AIDS virus|Human immunodeficiency virus-2|LAV-2|HIV|HIV-2|human immunodeficiency virus type 2 HIV-2 GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006632 biolink:NamedThing musculo-phrenic artery An artery with its origin in the lateral terminal branch of the internal thoracic artery, with distribution to the diaphragm and the intercostal muscles, and with anastomoses to the branches of the pericardiacophrenic and inferior phrenic. tmpak2llvmy_mondo_relaxed.owl musculophrenic artery owl:Class MONDO:0011138 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 1 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene. tmpak2llvmy_mondo_relaxed.owl TLR5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus (disease) caused by mutation in TLR5|systemic lupus erythematosus, resistance to, 1|SLEB1|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus, susceptibility to, type 1 OMIM:601744 owl:Class UBERON:0001585 biolink:NamedThing anterior vena cava A vein that carries deoxygenated blood from the upper half of the body into the right atrium of the heart. tmpak2llvmy_mondo_relaxed.owl superior caval vein|vena cava superior|vena maxima|cranial vena cava|superior vena cava|precava owl:Class CHEBI:59560 biolink:NamedThing sapropterin A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer). tmpak2llvmy_mondo_relaxed.owl 6R-5,6,7,8-tetrahydrobiopterin|sapropterin|5,6,7,8-Tetrahydrobiopterin|R-THBP|6R-L-5,6,7,8-tetrahydrobiopterin|(6R)-L-erythro-tetrahydrobiopterin|sapropterina|tetrahydrobiopterin|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|sapropterinum|6R-BH4|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one owl:Class GO:0061622 biolink:NamedThing glycolytic process through glucose-1-phosphate The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004614 biolink:NamedThing phosphoglucomutase activity Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. tmpak2llvmy_mondo_relaxed.owl alpha-D-glucose 1,6-phosphomutase activity|phosphoglucose mutase activity|glucose phosphomutase activity owl:Class CL:0002365 biolink:NamedThing medullary thymic epithelial cell An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output. tmpak2llvmy_mondo_relaxed.owl mTEC BTO:0004563 tmeehan 2010-09-23T03:17:14Z cell owl:Class MONDO:0001806 biolink:NamedThing vaginal squamous tumor A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl vagina squamous cell neoplasm|vaginal squamous neoplasm|vaginal squamous tumor UMLS:C1519931|DOID:138|NCIT:C40242 owl:Class UBERON:0003413 biolink:NamedThing pectoral appendage bud mesenchyme Mesenchyme that is part of a pectoral appendage bud. tmpak2llvmy_mondo_relaxed.owl upper limb bud mesenchyme|arm mesenchyme|mesoderm pectoral fin bud|pectoral fin bud mesenchyme|wing mesenchyme|forelimb bud mesenchyme owl:Class UBERON:0005729 biolink:NamedThing pectoral appendage field A limb/fin field that has the potential to develop into a pectoral appendage bud mesenchyme. tmpak2llvmy_mondo_relaxed.owl pectoral appendage field of lateral plate mesoderm|pectoral fin field owl:Class UBERON:0035127 biolink:NamedThing suture of hard palate Any of the sutures of the hard palate tmpak2llvmy_mondo_relaxed.owl palatine suture owl:Class UBERON:0007151 biolink:NamedThing mitral valve leaflet A valve leafleft that is part of a mitral valve. tmpak2llvmy_mondo_relaxed.owl mitral valvular leaflet|leaflet of mitral valve|mitral valve leaflets|mitral valve leaflet owl:Class MONDO:0006522 biolink:NamedThing acquired keratosis Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. tmpak2llvmy_mondo_relaxed.owl acquired hyperkeratosis|keratoderma - acquired|keratoderma, acquired|acquired keratoderma|acquired keratosis SCTID:400166009|NCIT:C34746|EFO:1000663|ICD9:701.1|DOID:13072 owl:Class MONDO:0014876 biolink:NamedThing intellectual disability, autosomal recessive 54 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|intellectual disability, autosomal recessive type 54|mental retardation, autosomal recessive type 54|TNIK autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 54|intellectual disability, autosomal recessive 54|MRT54 OMIM:617028|UMLS:C4310755 owl:Class HGNC:30765 biolink:NamedThing TNIK tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007625 biolink:NamedThing pigment epithelium of eye epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. tmpak2llvmy_mondo_relaxed.owl eye pigment epithelium owl:Class UBERON:0000970 biolink:NamedThing eye An organ that detects light. tmpak2llvmy_mondo_relaxed.owl visual apparatus|light-detecting organ owl:Class CL:0010020 biolink:NamedThing cardiac glial cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011281 biolink:NamedThing congenital myasthenic syndrome 5 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in COLQ|Engel congenital myasthenic syndrome|myasthenic syndrome, congenital, type 5|congenital myasthenic syndrome type Ic, formerly|myasthenic syndrome, congenital, 5|COLQ congenital myasthenic syndrome|CMS Ic|myasthenic syndrome, congenital, Engel type|CMS5|end plate acetylcholinesterase deficiency|EAD|Cms Ic, formerly|congenital myasthenic syndrome type Ic|endplate acetylcholinesterase deficiency|congenital myasthenic syndrome type 5|Cms Ic|congenital myasthenic syndrome 5|congenital myasthenic syndrome Engel type NCIT:C129304|DOID:0110667|UMLS:C1864233|MESH:C566415|OMIM:603034 owl:Class HGNC:8786 biolink:NamedThing PDE6B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014059 biolink:NamedThing microphthalmia, isolated, with coloboma 9 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene. tmpak2llvmy_mondo_relaxed.owl TENM3 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 9|microphthalmia, isolated, with coloboma 9|microphthalmia, isolated, with coloboma caused by mutation in TENM3|MCOPCB9 UMLS:C3554592|OMIM:615145 owl:Class HGNC:29944 biolink:NamedThing TENM3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003430 biolink:NamedThing neck nerve A nerve that is part of a neck [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl neck (volume) nerve|nerve of neck (volume)|nerve of neck owl:Class HGNC:5466 biolink:NamedThing IGF2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016887 biolink:NamedThing ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpak2llvmy_mondo_relaxed.owl ATP hydrolase activity|ATPase|ATP phosphohydrolase activity|adenosine 5'-triphosphatase activity|ATP monophosphatase activity|adenosinetriphosphatase activity|adenosine triphosphatase activity owl:Class HP:0008669 biolink:NamedThing Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. tmpak2llvmy_mondo_relaxed.owl Impaired spermatogenesis|Abnormal sperm development SNOMEDCT_US:4529005|UMLS:C0520933|UMLS:C4020789 human_phenotype owl:Class MONDO:0014394 biolink:NamedThing Diamond-Blackfan anemia 13 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia caused by mutation in RPS29|RPS29 Diamond-Blackfan anemia|DBA13|Diamond-Blackfan anemia 13|Diamond-Blackfan Anemia type 13 UMLS:C4014641|OMIM:615909 owl:Class MONDO:0005960 biolink:NamedThing silicosis Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. tmpak2llvmy_mondo_relaxed.owl pneumoconiosis due to silicates|silicotic fibrosis of lung|silicatosis|nodular silicosis|silica pneumoconiosis|acute silicosis|experimental silicosis|silicosis|pneumoconiosis caused by silica|silicotuberculosis|pneumoconiosis due to silica|chronic silicosis|accelerated silicosis SCTID:805002|NCIT:C3369|DOID:10325|EFO:0007485|ICD10:J62|UMLS:C0037116|MESH:D012829|ICD9:502|GARD:0007647|ICD10:J62.8 https://rarediseases.info.nih.gov/diseases/7647/silicosis owl:Class ENVO:01001282 biolink:NamedThing silica dust Dust which is composed primarily of slicon dioxide. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041154 biolink:NamedThing disease of neck of urinary bladder tmpak2llvmy_mondo_relaxed.owl functional disorder of bladder neck and sphincter mechanism SCTID:236644005 owl:Class HGNC:903 biolink:NamedThing AXIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008483 biolink:NamedThing stuttering, familial persistent, 1 tmpak2llvmy_mondo_relaxed.owl STUT1|stammering|stuttering, familial persistent, 1 OMIM:184450 owl:Class HGNC:573 biolink:NamedThing AP4E1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CP_0000027 biolink:NamedThing acidophilic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. tmpak2llvmy_mondo_relaxed.owl eosinophilic tmeehan 2009-12-22T04:23:25Z cell owl:Class UBERON:0008810 biolink:NamedThing nasopalatine nerve A branch of that maxillary nerve that innervates the mucous membrane of the hard palate. tmpak2llvmy_mondo_relaxed.owl naso-palatine nerve|nervus nasopalatinus|nasopalatine|nasopalatine nerves|Scarpa's nerve owl:Class UBERON:0004269 biolink:NamedThing upper arm connective tissue A portion of connective tissue that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011436 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. tmpak2llvmy_mondo_relaxed.owl HMN 6|severe infantile axonal neuropathy with respiratory failure type 1|severe infantile axonal neuropathy with respiratory failure|DSMA1|neuronopathy, distal hereditary motor, type 6|distal-HMN type 6|spinal muscular atrophy, diaphragmatic|distal hereditary motor neuropathy type 6|SMARD1|IGHMBP2 spinal muscular atrophy|diaphragmatic spinal muscular atrophy|neuronopathy, distal hereditary motor, type VI|autosomal recessive distal spinal muscular atrophy type 1|Hmn6|neuronopathy, Severe infantile axonal, with respiratory failure|autosomal recessive distal spinal muscular atrophy 1|spinal muscular atrophy caused by mutation in IGHMBP2|dSMA1|SIANRF|spinal muscular atrophy with respiratory distress type 1|spinal muscular atrophy, distal, autosomal recessive, 1|autosomal recessive spinal muscular atrophy with respiratory distress|spinal muscular atrophy, distal, autosomal recessive, type 1|dHMN6|HMN VI|spinal muscular atrophy with respiratory distress 1 SCTID:711483003|UMLS:C1858517|ICD9:335.19|GARD:0008592|DOID:0111064|OMIM:604320|Orphanet:98920|MESH:C536880|ICD10:G12.2 owl:Class HGNC:5542 biolink:NamedThing IGHMBP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022380 biolink:NamedThing acute lymphoblastic leukemia congenital sporadic aniridia A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. tmpak2llvmy_mondo_relaxed.owl GARD:0000523 https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia owl:Class MONDO:0019172 biolink:NamedThing aniridia Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). tmpak2llvmy_mondo_relaxed.owl aplasia of iris Orphanet:77|DOID:12271|MESH:D015783|SCTID:69278003|UMLS:C0003076|MedDRA:10002532|GARD:0005816|NCIT:C84563|ICD9:743.45|ICD10:Q13.1 https://rarediseases.info.nih.gov/diseases/5816/aniridia owl:Class HGNC:11851 biolink:NamedThing TLR5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036375 biolink:NamedThing wall of right ureter tmpak2llvmy_mondo_relaxed.owl right ureteral wall owl:Class UBERON:0007812 biolink:NamedThing post-anal tail A tail that extends from the posterior tip of the organism to the anus, contains muscle and skeleton. tmpak2llvmy_mondo_relaxed.owl post-vent region|muscular postanal tail|post-anal fin tail|postanal tail owl:Class Ne5ba996c378441ebbf681fb83eb75d31 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0008814 biolink:NamedThing pharyngeal arch system A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. tmpak2llvmy_mondo_relaxed.owl pharyngeal apparatus|pharyngeal complex|pharyngeal system|pharyngeal arch complex|embryonic pharyngeal complex|pharyngeal arches and clefts|pharyngeal arch region owl:Class CHEBI:58570 biolink:NamedThing D-tyrosine zwitterion A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate|D-tyrosine owl:Class MONDO:0014443 biolink:NamedThing Bardet-Biedl syndrome 15 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. tmpak2llvmy_mondo_relaxed.owl WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome 15|Bardet-Biedl syndrome type 15|Bardet-Biedl syndrome caused by mutation in WDPCP|BBS15 DOID:0110137|ICD10:Q87.89|UMLS:C3150127|OMIM:615992 owl:Class GO:0035930 biolink:NamedThing corticosteroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. tmpak2llvmy_mondo_relaxed.owl corticosteroid secretion owl:Class MONDO:0024674 biolink:NamedThing Pancoast syndrome A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. tmpak2llvmy_mondo_relaxed.owl syndrome, Pancoast's|Pancoast syndrome|tumor, Pancoast|superior pulmonary sulcus syndrome|Pancoast's syndrome|Pancoast tumor|syndrome, Pancoast|Pancoasts syndrome SCTID:278065000|UMLS:C0030271|MESH:D010178|NCIT:C55815 owl:Class HGNC:888 biolink:NamedThing KIF1A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005475 biolink:NamedThing sigmoid sinus A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein tmpak2llvmy_mondo_relaxed.owl sulcus sigmoideus owl:Class HGNC:19693 biolink:NamedThing COQ4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006289 biolink:NamedThing nucleotide-excision repair A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). tmpak2llvmy_mondo_relaxed.owl NER|intrastrand cross-link repair|pyrimidine-dimer repair, DNA damage excision owl:Class CL:0002564 biolink:NamedThing nucleus pulposus cell of intervertebral disc A connective tissue cell of the nucleus pulposus cell of intervertebral disc. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-02T02:12:23Z cell owl:Class OBO:CHR_9606-chr2p1 biolink:NamedThing chr2p1 (Human) tmpak2llvmy_mondo_relaxed.owl 93900000 47500000 hg38 owl:Class HGNC:13273 biolink:NamedThing DUOX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009973 biolink:NamedThing reticular dysgenesis Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. tmpak2llvmy_mondo_relaxed.owl congenital Aleukia|AK2 deficiency|reticular dysgenesis|congenital aleukocytosis|reticular Dysgenesia|aleukocytosis|severe combined immunodeficiency with leukopenia|SCID with leukopenia|De Vaal disease|hematopoietic hypoplasia, generalized|generalized hematopoietic hypoplasia|DeVaal disease|RD MESH:C538361|ICD10:D81.0|NCIT:C27070|SCTID:111584000|DOID:0060020|GARD:0008625|Orphanet:33355|OMIM:267500|UMLS:C0272167 https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis owl:Class HP:0001888 biolink:NamedThing Lymphopenia A reduced number of lymphocytes in the blood. tmpak2llvmy_mondo_relaxed.owl Lymphocytopenia|Decreased blood lymphocyte number|Low lymphocyte number|Absolute lymphocyte count decrease MSH:D008231|UMLS:C0024312|SNOMEDCT_US:48813009 human_phenotype owl:Class HGNC:26790 biolink:NamedThing WDR72 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014151 biolink:NamedThing pulmonary hypertension, neonatal, susceptibility to tmpak2llvmy_mondo_relaxed.owl susceptibility to neonatal pulmonary hypertension|pulmonary hypertension, neonatal, susceptibility to|PHN OMIM:615371 owl:Class UBERON:0022360 biolink:NamedThing male mammary gland duct A mammary gland duct that is part of a male organism. This structure typically regresses. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0021915 biolink:NamedThing neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018619 biolink:NamedThing hyperinsulinemic hypoglycaemia tmpak2llvmy_mondo_relaxed.owl hyperinsulinemia hypoglycemia 2021-12-01 Orphanet:443095|OMIMPS:256450 Reason: duplicate. This will be merged with MONDO:0005803 hyperinsulinemic hypoglycemia owl:Class UBERON:0004249 biolink:NamedThing manual digit bone A bone that is part of a forelimb digit. Typically phalanges but may include sesamoids. tmpak2llvmy_mondo_relaxed.owl hand digit bone|fore limb digit bone|digital bone of hand|finger bone|digital bone of manus owl:Class GO:0007076 biolink:NamedThing mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010162 biolink:NamedThing post-anal tail tip The distal end of the tail tmpak2llvmy_mondo_relaxed.owl end of tail|tail tip owl:Class HGNC:22932 biolink:NamedThing GMPPB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014838 biolink:NamedThing Coffin-Siris syndrome 5 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. tmpak2llvmy_mondo_relaxed.owl COFFIN-SIRIS syndrome 5|Coffin-Siris syndrome type 5|Coffin-Siris syndrome caused by mutation in SMARCE1|Coffin-Siris syndrome 5|CSS5|SMARCE1 Coffin-Siris syndrome UMLS:C4310788|OMIM:616938 owl:Class HGNC:11109 biolink:NamedThing SMARCE1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28929 biolink:NamedThing KRT74 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034940 biolink:NamedThing venous sinus cavity An enlarged chamber in the blood sinus capable of accumulating a large volume of blood. tmpak2llvmy_mondo_relaxed.owl blood sinus cavity|blood sinus lumen owl:Class MONDO:0012271 biolink:NamedThing mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. tmpak2llvmy_mondo_relaxed.owl syndactyly mesoaxial synostotic with phalangeal reduction|syndactyly type 9|syndactyly, Malik-Percin type|MSSD|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly, type 9|syndactyly Malik-Percin type GARD:0010590|ICD10:Q70.0|Orphanet:157801|ICD10:Q70.2|OMIM:609432|UMLS:C1836206|MESH:C563721|SCTID:724170007 owl:Class HGNC:35126 biolink:NamedThing BHLHA9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013073 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal 1 Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. tmpak2llvmy_mondo_relaxed.owl FNEPPK1|Ppkfne|palmoplantar keratoderma, nonepidermolytic, focal 1|KRT16 nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal type 1|keratoderma, focal nonepidermolytic palmoplantar|focal nonepidermolytic palmoplantar keratoderma|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16 OMIM:613000|DOID:0111709 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class HGNC:6423 biolink:NamedThing KRT16 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045168 biolink:NamedThing cell-cell signaling involved in cell fate commitment Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. tmpak2llvmy_mondo_relaxed.owl cell-cell signalling during cell fate commitment|cell-cell signaling resulting in cell fate commitment|cell-cell signaling during in cell fate commitment|cell fate commitment, cell-cell signalling|cell-cell signalling resulting in cell fate commitment|cell fate commitment, cell-cell signaling|cell-cell signalling involved in cell fate specification owl:Class MONDO:0010938 biolink:NamedThing T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpak2llvmy_mondo_relaxed.owl severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|SCID, T cell-negative, B cell-positive, NK cell-negative|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE|T-B+ SCID due to JAK3 deficiency|T-B+ severe combined immunodeficiency due to JAK3 deficiency|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency MESH:C563440|SCTID:718107000|OMIM:600802|ICD10:D81.2|UMLS:C4273742|Orphanet:35078|UMLS:C1833275 owl:Class MONDO:0017818 biolink:NamedThing lethal arteriopathy syndrome due to fibulin-4 deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:CN203788|Orphanet:314718 owl:Class MONDO:0032613 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 8 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8|MC1DN8 OMIM:618230 owl:Class HGNC:7710 biolink:NamedThing NDUFS3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23151 biolink:NamedThing FERMT3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015760 biolink:NamedThing glucose-6-phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002434 biolink:NamedThing pituitary stalk the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland tmpak2llvmy_mondo_relaxed.owl infundibulum of neurohypophysis|infundibulum hypophysis|infundibular stalk|hypophyseal infundibulum|hypophyseal stalk|infundibulum of posterior lobe of pituitary gland|infundibulum (lobus posterior) (glandula pituitaria)|InfS|tuberal part of the hypophysis|infundibular stem of neurohypophysis|THP|neurohypophysis infundibulum|pituitary infundibular stalk|hypophysial stalk|infundibulum neurohypophyseos|infundibulum of pituitary gland|tuberal part of hypophysis|infundibular stem|infundibulum of hypothalamus|infundibulum|pars tuberalis (hypophysis) owl:Class HGNC:13243 biolink:NamedThing LMBR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012108 biolink:NamedThing spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. tmpak2llvmy_mondo_relaxed.owl SEMD, MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 type|SEMD, matrilin-3 type|spondyloepimetaphyseal dysplasia, matrilin-3 related|SEMD MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 related ICD10:Q77.7|Orphanet:156728|MESH:C563869|OMIM:608728|UMLS:C1837481|GARD:0010611|SCTID:719166003 owl:Class HGNC:26944 biolink:NamedThing TMEM138 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20502 biolink:NamedThing SLC39A5 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001558 biolink:NamedThing Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. tmpak2llvmy_mondo_relaxed.owl Less than 10 fetal movements in 12 hours|Decreased fetal movements|Decreased fetal activity|Foetal hypokinesia|Decreased foetal movement|Reduced fetal movements|Reduced foetal movement|Reduced foetal movements|Less than 10 foetal movements in 12 hours|Decreased movement in utero|Decreased foetal activity|Reduced fetal movement|Fetal hypokinesia|Decreased foetal movements SNOMEDCT_US:276369006|UMLS:C0235659 HP:0007630|HP:0001559|HP:0007631|HP:0006840 human_phenotype owl:Class MONDO:0000741 biolink:NamedThing angular cheilitis Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. tmpak2llvmy_mondo_relaxed.owl cheilosis|angular cheilitis|commissural cheilitis|angle of oral opening cheilitis|perlèche|perleche|angular cheilosis|angular stomatitis|cheilitis of angle of oral opening DOID:0060312|ICD10:K13.0|UMLS:C0221264|SCTID:16459000|UMLS:C0221237|NCIT:C112198 owl:Class UBERON:0018149 biolink:NamedThing angle of oral opening tmpak2llvmy_mondo_relaxed.owl mouth angle|angle of mouth owl:Class MONDO:0034145 biolink:NamedThing oculocerebrodental syndrome tmpak2llvmy_mondo_relaxed.owl OCSKD|oculoskeletodental syndrome|Cataracts, Early-Onset, With Skeletal and Dental Anomalies Orphanet:557003|OMIM:618440 owl:Class GO:0002284 biolink:NamedThing myeloid dendritic cell differentiation involved in immune response The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. tmpak2llvmy_mondo_relaxed.owl myeloid dendritic cell differentiation during immune response owl:Class UBERON:0002302 biolink:NamedThing myocardium of atrium the atrial part of middle layer of the heart, comprised of involuntary muscle tmpak2llvmy_mondo_relaxed.owl atrial myocardium|atrium cardiac muscle|atrium myocardium owl:Class MONDO:0012688 biolink:NamedThing cataract 17 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene. tmpak2llvmy_mondo_relaxed.owl CATCN3|cataract 17, multiple types|cataract, congenital nuclear, autosomal recessive 3|early-onset non-syndromic cataract caused by mutation in CRYBB1|CRYBB1 early-onset non-syndromic cataract|autosomal recessive congenital nuclear cataract 3|CTRCT17|cataract 17, multiple types, with or without microcornea DOID:0110270|OMIM:611544|UMLS:C1969062|ICD10:Q12.0|MESH:C566923 owl:Class HGNC:2397 biolink:NamedThing CRYBB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007290 biolink:NamedThing cataract 5 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene. tmpak2llvmy_mondo_relaxed.owl HSF4 cataract (disease)|cataract, lamellar|cataract, Marner type|CTRCT5|cataract (disease) caused by mutation in HSF4|cataract 5, multiple types MESH:C535342|DOID:0110255|ICD10:Q12.0|OMIM:116800 owl:Class HGNC:5227 biolink:NamedThing HSF4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0019269 biolink:NamedThing gray matter of diencephalon tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2025 biolink:NamedThing CLCN7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035929 biolink:NamedThing steroid hormone secretion The regulated release of any steroid that acts as a hormone into the circulatory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017617 biolink:NamedThing acquired adult-onset immunodeficiency A acquired immunodeficiency that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult acquired immunodeficiency|adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|adult onset immunodeficiency syndrome|anti-IFN-gamma autoantibody syndrome|acquired immunodeficiency of adults GARD:0011992|Orphanet:306431|ICD10:D84.8 owl:Class HGNC:3048 biolink:NamedThing DSG1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019230 biolink:NamedThing proprioception The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000055 biolink:NamedThing liver dendritic cell Any dendritic cell that is part of a liver. tmpak2llvmy_mondo_relaxed.owl hepatic dendritic cell http://www.jleukbio.org/content/66/2/322.abstract TermGenie 2014-10-06T19:16:11Z cell owl:Class MONDO:0015003 biolink:NamedThing dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities tmpak2llvmy_mondo_relaxed.owl dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|DYTOABG|dystonia 29, childhood-onset Orphanet:508093|OMIM:617282|UMLS:C4310634 owl:Class HGNC:19691 biolink:NamedThing MECR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014932 biolink:NamedThing orofaciodigital syndrome XV tmpak2llvmy_mondo_relaxed.owl OFD15|orofaciodigital syndrome type XV|oral-Facial-digital syndrome, type 15|orofaciodigital syndrome 15|Ofds 15|orofaciodigital syndrome XV UMLS:C4310701|OMIM:617127 owl:Class HGNC:29110 biolink:NamedThing KIAA0753 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000514 biolink:NamedThing smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. tmpak2llvmy_mondo_relaxed.owl satellite cell|myoblast, smooth muscle FMA:84798 cell owl:Class MONDO:0011237 biolink:NamedThing hyperlipidemia, combined, 1 Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene. tmpak2llvmy_mondo_relaxed.owl hyperlipidemia, combined, 1|USF1 familial combined hyperlipidemia|familial combined hyperlipidemia caused by mutation in USF1|hyperlipidemia, familial combined, 1|hyplip1|hyperlipidemia, combined, type 1 MESH:C566535|UMLS:C1865289|OMIM:602491 owl:Class HGNC:12593 biolink:NamedThing USF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005463 biolink:NamedThing subcapsular sinus of lymph node A space between the capsule and the cortex which allows the free movement of lymphatic fluid and so contains a sparsity of lymphocytes. It is continuous with the similar lymph sinuses that flank the trabeculae. tmpak2llvmy_mondo_relaxed.owl marginal sinus|lymph sinus|subcapsular sinus|lymph node subcortical sinus|lymph path|marginal sinus of lymph node owl:Class CHEBI:58095 biolink:NamedThing L-phenylalanine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2S)-2-azaniumyl-3-phenylpropanoate|(2S)-2-ammonio-3-phenylpropanoate|L-phenylalanine|phenylalanine owl:Class UBERON:0010584 biolink:NamedThing pedal digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a pedal digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 5 phalanx pre-cartilage condensation|hind limb digit 5 phalanx pre-cartilage condensation|pedal digit V phalanx pre-cartilage condensation owl:Class MONDO:0012839 biolink:NamedThing pyogenic bacterial infections due to MyD88 deficiency Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. tmpak2llvmy_mondo_relaxed.owl MYD88D|pyogenic bacterial infections, recurrent, due to MyD88 deficiency|MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency OMIM:612260|ICD10:D84.8|Orphanet:183713|UMLS:C2677092|MESH:C567379|GARD:0012638 owl:Class MONDO:0013525 biolink:NamedThing primary ciliary dyskinesia 16 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. tmpak2llvmy_mondo_relaxed.owl DNAL1 primary ciliary dyskinesia|CILD16|primary ciliary dyskinesia 16 with or without situs inversus|ciliary dyskinesia, primary, 16|primary ciliary dyskinesia caused by mutation in DNAL1|ciliary dyskinesia, primary, type 16|ciliary dyskinesia, primary, 16, with or without situs inversus|primary ciliary dyskinesia type 16 ICD10:Q34.8|UMLS:C3151460|OMIM:614017|DOID:0110613 owl:Class HGNC:23247 biolink:NamedThing DNAL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002114 biolink:NamedThing pancreas lymphoma A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. tmpak2llvmy_mondo_relaxed.owl lymphoma of the pancreas|pancreatic lymphoma|lymphoma of pancreas|pancreas lymphoma DOID:1792|NCIT:C5714|UMLS:C1335307 owl:Class HGNC:23752 biolink:NamedThing CERS3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001417 biolink:NamedThing tracheal lymphoma A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. tmpak2llvmy_mondo_relaxed.owl lymphoma of the trachea|primary tracheal lymphoma|tracheal lymphoma|lymphoma of trachea|trachea lymphoma NCIT:C6248|UMLS:C1336773|DOID:12001 owl:Class MONDO:0100096 biolink:NamedThing COVID-19 A disease caused by infection with severe acute respiratory syndrome coronavirus 2. tmpak2llvmy_mondo_relaxed.owl 2019-nCoV|severe acute respiratory syndrome coronavirus 2|β-CoV|β-CoVs|2019-nCoV infection|SARS-CoV-2|SARS-coronavirus 2|betacoronavirus|2019 novel coronavirus|coronavirus disease 2019|beta-CoVs|severe acute respiratory syndrome coronavirus 2 infectious disease|beta-CoV|2019 novel coronavirus infection|β-coronavirus MESH:D000086382|ICD10:U07.2|ICD11:RA01.2|MESH:C000657245|ICD11:RA01.0|ICD10:U07.1|SCTID:840539006|DOID:0080600 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010056 biolink:NamedThing spinal muscular atrophy, type IV Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy type 4|SMA type 4|spinal muscular atrophy 4|spinal muscular atrophy, adult form|adult-onset spinal muscular atrophy|SMA type IV|proximal spinal muscular atrophy type 4|spinal muscular atrophy of adults|SMA4|spinal muscular atrophy, type IV|SMA-IV|SMA 4|spinal muscular atrophy, type 4|adult spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal recessive OMIM:271150|Orphanet:83420|GARD:0000564|DOID:0050529|SCTID:85505000|ICD10:G12.1|ICD9:335.19 owl:Class MONDO:0006455 biolink:NamedThing thymic undifferentiated carcinoma A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features. tmpak2llvmy_mondo_relaxed.owl thymic undifferentiated carcinoma EFO:1000580|UMLS:C1336865|NCIT:C35718 owl:Class GO:0033081 biolink:NamedThing regulation of T cell differentiation in thymus Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. tmpak2llvmy_mondo_relaxed.owl regulation of thymocyte differentiation|regulation of thymocyte cell differentiation|regulation of T cell development in thymus|regulation of thymic T cell differentiation owl:Class GO:0033077 biolink:NamedThing T cell differentiation in thymus The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. tmpak2llvmy_mondo_relaxed.owl T cell development in thymus|thymic T cell differentiation|thymocyte cell differentiation|thymocyte differentiation owl:Class UBERON:0012373 biolink:NamedThing sympathetic nerve plexus A nerve plexus that is part of a sympathetic nervous system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010340 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl ASPGX1|Asperger syndrome, X-linked, susceptibility to, 1|ASPERGER syndrome, X-linked, susceptibility to, 1|susceptibility to X-linked asperger syndrome 1|Asperger syndrome, X-linked, susceptibility to, type 1 UMLS:C1845341|OMIM:300494 owl:Class MONDO:0001215 biolink:NamedThing allescheriosis A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. tmpak2llvmy_mondo_relaxed.owl Petriellidosis SCTID:80936003|UMLS:C0153285|DOID:11186|ICD10:B48.2|ICD9:117.6 owl:Class NCBITaxon:5597 biolink:NamedThing Scedosporium boydii tmpak2llvmy_mondo_relaxed.owl Cephalosporium boydii|Pseudallescheria boydii|Allescheria boydii PMID:18077629|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008134 biolink:NamedThing autosomal dominant optic atrophy, classic form Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. tmpak2llvmy_mondo_relaxed.owl optic atrophy, juvenile|Kjer-type optic atrophy|OAK|Kjer optic atrophy|autosomal dominant optic atrophy, Kjer type|optic atrophy, Kjer type|optic atrophy 1|optic atrophy type 1|OPA1 ICD10:H47.2|OMIM:165500|GARD:0009890|DOID:0111441|SCTID:717336005|UMLS:CN207069|Orphanet:98673 owl:Class MONDO:0003592 biolink:NamedThing gastric liposarcoma A malignant adipose tissue neoplasm of the stomach. tmpak2llvmy_mondo_relaxed.owl gastric liposarcoma|stomach liposarcoma|liposarcoma of the stomach|liposarcoma of stomach NCIT:C5488|UMLS:C1333778|DOID:5700 owl:Class CL:0000570 biolink:NamedThing parafollicular cell A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. tmpak2llvmy_mondo_relaxed.owl parafollicular cell of thyroid gland|thyroid parafollicular cell|C cell of thyroid gland|clear cell of thyroid gland|C cell SCTID:176770005|FMA:68653 cell owl:Class MONDO:0018690 biolink:NamedThing Holmes-Adie syndrome A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. tmpak2llvmy_mondo_relaxed.owl Adie pupil|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|Adie's pupil|poorly Reacting pupils|tonic pupil|tonic pupil-tendon areflexia syndrome|Holmes-Adie syndrome|Adie syndrome|Adie's syndrome|Adie's pupil syndrome|Adie's pupil or syndrome DOID:11549|SCTID:24225004|MESH:D000270|NCIT:C34357|UMLS:C0001519|Orphanet:454718|ICD10:H57.0|GARD:0005749|OMIM:103100|EFO:0004126 owl:Class UBERON:0001943 biolink:NamedThing midbrain tegmentum Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. tmpak2llvmy_mondo_relaxed.owl tegmentum mesencephali|tegmentum|MTg|mesencephalic tegmentum|tegmentum mesencephalicum|tegmentum of midbrain owl:Class NCBITaxon:121224 biolink:NamedThing Pediculus humanus corporis tmpak2llvmy_mondo_relaxed.owl Pediculus humanus humanus|human body lice|human body louse PMID:23049889|GC_ID:1|PMID:18434207 NCBITaxon:121223 ncbi_taxonomy owl:Class CL:0002241 biolink:NamedThing pulmonary interstitial fibroblast A fibroblasts found in interstitial spaces in the pulmonary tract. Greater numbers of these cells are found in idiopathic pulmonary fibrosis. tmpak2llvmy_mondo_relaxed.owl pulmonary septal cell|pulmonary myofibroblast FMA:84467 tmeehan 2010-09-07T02:29:38Z cell owl:Class HGNC:14872 biolink:NamedThing ASPN tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:163159 biolink:NamedThing Xenopsylla cheopis tmpak2llvmy_mondo_relaxed.owl oriental rat flea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014114 biolink:NamedThing cardiofaciocutaneous syndrome 4 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. tmpak2llvmy_mondo_relaxed.owl cardiofaciocutaneous syndrome caused by mutation in MAP2K2|MAP2K2 cardiofaciocutaneous syndrome|CFC4|cardiofaciocutaneous syndrome type 4|cardiofaciocutaneous syndrome 4 OMIM:615280|DOID:0111463|UMLS:C3809007 owl:Class HGNC:6842 biolink:NamedThing MAP2K2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903430 biolink:NamedThing negative regulation of cell maturation Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation. tmpak2llvmy_mondo_relaxed.owl down regulation of cell maturation|down regulation of functional differentiation|downregulation of functional differentiation|downregulation of cell maturation|down-regulation of cell maturation|inhibition of cell maturation|down-regulation of functional differentiation|negative regulation of functional differentiation|inhibition of functional differentiation owl:Class CHEBI:46787 biolink:NamedThing solvent A liquid that can dissolve other substances (solutes) without any change in their chemical composition. tmpak2llvmy_mondo_relaxed.owl solvents|solvant|Loesungsmittel owl:Class UBERON:0036263 biolink:NamedThing supraglottic part of larynx The upper part of the larynx, including the epiglottis; the area above the vocal cords. tmpak2llvmy_mondo_relaxed.owl supraglottic larynx|supraglottis owl:Class MONDO:0044723 biolink:NamedThing 3-methylglutaconic aciduria type 8 tmpak2llvmy_mondo_relaxed.owl 3-methylglutaconic aciduria, type VIII; MGCA8|3-methylglutaconic aciduria, type VIII|MGA8|3-methylglutaconic aciduria type VIII, MGCA8|MGCA8|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria type VIII OMIM:617248|UMLS:C4310650|DOID:0070000|Orphanet:505208 owl:Class HP:0002716 biolink:NamedThing Lymphadenopathy Enlargment (swelling) of a lymph node. tmpak2llvmy_mondo_relaxed.owl Lymph node hyperplasia|Swollen lymph nodes UMLS:C0497156|MSH:D000072281|SNOMEDCT_US:30746006 HP:0002735 human_phenotype owl:Class MONDO:0016390 biolink:NamedThing familial hypoparathyroidism A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. tmpak2llvmy_mondo_relaxed.owl FIH|hypoparathyroidism, familial|hypoparathyroidism, familial isolated|familial isolated hypoparathyroidism|hypoparathyroidism familial isolated ICD10:E20.8|OMIMPS:146200|DOID:0111387|Orphanet:2238|MESH:C537156|GARD:0002910|UMLS:C1832648|SCTID:725036000 owl:Class GO:0035898 biolink:NamedThing parathyroid hormone secretion The regulated release of parathyroid hormone into the circulatory system. tmpak2llvmy_mondo_relaxed.owl parathyrin secretion|PTH secretion|parathormone secretion owl:Class OBO:CHR_9606-chrXp11.3 biolink:NamedThing chrXp11.3 (Human) tmpak2llvmy_mondo_relaxed.owl 47600000 42500000 hg38 owl:Class GO:0051931 biolink:NamedThing regulation of sensory perception Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011268 biolink:NamedThing renal tubular acidosis, distal, 3, with or without sensorineural hearing loss tmpak2llvmy_mondo_relaxed.owl classical distal RTA|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included|type 1 renal tubular acidosis|renal tubular acidosis, autosomal recessive with preserved hearing|RTA, distal, autosomal recessive|classical distal renal tubular acidosis|type 1 RTA|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|renal tubular acidosis, distal, 3, with or without sensorineural hearing loss|RTADR|renal tubular acidosis, autosomal recessive, with preserved hearing|renal tubular acidosis, distal, autosomal recessive OMIM:602722|GARD:0004669 owl:Class HGNC:866 biolink:NamedThing ATP6V0A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009816 biolink:NamedThing autosomal recessive osteopetrosis 2 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene. tmpak2llvmy_mondo_relaxed.owl osteopetrosis autosomal recessive 2|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|OPTB2|autosomal recessive osteopetrosis type 2|mild autosomal recessive form osteopetrosis|TNFSF11 autosomal recessive osteopetrosis|osteopetrosis osteoclast-poor|osteopetrosis, autosomal recessive 2|osteopetrosis, mild autosomal recessive form|osteopetrosis, autosomal recessive type 2|autosomal recessive osteopetrosis caused by mutation in TNFSF11|TNFSF11 autosomal recessive malignant osteopetrosis|osteoclast-poor osteopetrosis|osteopetrosis, osteoclast-poor DOID:0110943|MESH:C536059|GARD:0004157|OMIM:259710 https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 owl:Class HGNC:11926 biolink:NamedThing TNFSF11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009715 biolink:NamedThing myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. tmpak2llvmy_mondo_relaxed.owl myotonia congenita, autosomal recessive|myotonia, generalized|Becker disease|autosomal recessive myotonia congenita UMLS:C0751360|OMIM:255700 owl:Class UBERON:0013501 biolink:NamedThing cloacal sphincter A sphincter muscle that is part of a cloaca. tmpak2llvmy_mondo_relaxed.owl sphincter cloacae owl:Class GO:0007159 biolink:NamedThing leukocyte cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. tmpak2llvmy_mondo_relaxed.owl leukocyte cell adhesion|leukocyte adhesion owl:Class UBERON:0003541 biolink:NamedThing left lung terminal bronchiole A terminal bronchiole that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiolus terminalis of left lung|terminal bronchiole of left lung|left lung bronchiolus terminalis owl:Class UBERON:0035401 biolink:NamedThing posterior wall of nasopharynx tmpak2llvmy_mondo_relaxed.owl posterior nasopharynx owl:Class HsapDv:0000119 biolink:NamedThing 25-year-old human stage Adult stage that refers to an adult who is over 25 and under 26. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003229 biolink:NamedThing epithelium of elbow An epithelium that is part of a elbow [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of elbow|elbow epithelium|epithelial tissue of cubital region|cubital region epithelial tissue|cubital region epithelium|epithelium of cubital region|elbow epithelial tissue owl:Class MONDO:0019868 biolink:NamedThing mosaic trisomy 10 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. tmpak2llvmy_mondo_relaxed.owl trisomy 10 mosaicism|Mosaic trisomy chromosome 10|mosaic trisomy 10|Mosaic trisomy type 10|chromosome 10, uniparental disomy|uniparental disomy of 10 MESH:C538292|GARD:0005406|UMLS:CN035866|Orphanet:96063|ICD10:Q92.1|SCTID:764461004 owl:Class HGNC:19857 biolink:NamedThing ISCA2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13818 biolink:NamedThing SLC12A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013197 biolink:NamedThing hypertrophic cardiomyopathy 14 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 14|MYH6 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 14|hypertrophic cardiomyopathy type 14|cardiomyopathy familial hypertrophic 14|CMH14|hypertrophic cardiomyopathy caused by mutation in MYH6 OMIM:613251|MESH:C567684|UMLS:C2750467|DOID:0110320 owl:Class MONDO:0005766 biolink:NamedThing fungal lung infectious disease Pulmonary diseases caused by fungal infections, usually through hematogenous spread. tmpak2llvmy_mondo_relaxed.owl fungal disease, pulmonary|lung disease, fungal|Fungi lung disease|pulmonary fungal infection|fungal lung disease|pulmonary fungal infections|fungal infection, pulmonary|pulmonary fungal disease|Fungi caused lung disease|fungal lung diseases|pulmonary fungal diseases|fungal infections, pulmonary|fungal diseases, pulmonary UMLS:C0024116|EFO:0007278|MESH:D008172 owl:Class MONDO:0008002 biolink:NamedThing mirror movements 1 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene. tmpak2llvmy_mondo_relaxed.owl mirror movements 1 and/Or agenesis of the corpus callosum|bimanual synergia|mirror movements type 1|MRMV1|mirror movements 1|DCC familial congenital mirror movements|familial congenital mirror movements caused by mutation in DCC|mirror movements, congenital OMIM:157600 owl:Class HGNC:2701 biolink:NamedThing DCC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007390 biolink:NamedThing pectoral appendage cartilage tissue A cartilage tissue that is part of a pectoral appendage. tmpak2llvmy_mondo_relaxed.owl pectoral fin cartilage owl:Class MONDO:0040871 biolink:NamedThing psychogenic polydipsia A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. tmpak2llvmy_mondo_relaxed.owl psychogenic polydipsia SCTID:15945005 owl:Class GO:0032055 biolink:NamedThing negative regulation of translation in response to stress Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl inhibition of translation in response to stress|downregulation of translation in response to stress|down regulation of translation in response to stress|down-regulation of translation in response to stress owl:Class FOODON:03307455 biolink:NamedThing cow milk (raw) tmpak2llvmy_mondo_relaxed.owl milk|raw milk SUBSET_SIREN:F7455 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) * has consumer 'not pasteurized claim or use' (http://purl.obolibrary.org/obo/FOODON_03510121) http://langual.org subset_siren owl:Class GO:0070588 biolink:NamedThing calcium ion transmembrane transport A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl transmembrane calcium transport|calcium ion membrane transport owl:Class HGNC:14880 biolink:NamedThing GTPBP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014400 biolink:NamedThing retinitis pigmentosa 70 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 70|retinitis pigmentosa caused by mutation in PRPF4|RP70|PRPF4 retinitis pigmentosa|retinitis pigmentosa 70 ICD10:H35.5|DOID:0110392|OMIM:615922|UMLS:C4014681 owl:Class HGNC:17349 biolink:NamedThing PRPF4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005044 biolink:NamedThing mucosa of pharyngotympanic tube A mucosa that is part of a pharyngotympanic tube [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl auditory tube mucosa of organ|pharyngotympanic tube organ mucosa|auditory tube mucosa|mucuous membrane of eustachian tube|internal auditory tube mucosa of organ|mucosa of internal auditory tube|mucosa of auditory tube|organ mucosa of internal auditory tube|mucosa of organ of pharyngotympanic tube|auditory tube organ mucosa|mucosa of organ of internal auditory tube|mucosa of organ of auditory tube|mucous membrane of internal auditory tube|auditory tube mucous membrane|internal auditory tube organ mucosa|internal auditory tube mucous membrane|tunica mucosa (tuba auditiva)|pharyngotympanic tube mucosa|organ mucosa of pharyngotympanic tube|pharyngotympanic tube mucosa of organ|mucous membrane of pharyngotympanic tube|mucuous membrane of pharyngotympanic tube|pharyngotympanic tube mucous membrane|internal auditory tube mucosa|organ mucosa of auditory tube|mucous membrane of auditory tube|tunica mucosa (tuba auditoria) owl:Class MONDO:0012648 biolink:NamedThing isobutyryl-CoA dehydrogenase deficiency An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). tmpak2llvmy_mondo_relaxed.owl IBD deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|isobutyryl-CoA dehydrogenase deficiency|acyl-Coa dehydrogenase family, member 8, deficiency of|Acad8 deficiency|isobutyric aciduria Orphanet:79159|ICD10:E71.1|GARD:0010223|OMIM:611283|UMLS:C1969809|MESH:C535541|NCIT:C129975 https://github.com/monarch-initiative/mondo/issues/324|https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency owl:Class UBERON:0004991 biolink:NamedThing mucosa of transverse colon A mucosa that is part of a transverse colon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of transverse colon|mucosa of organ of transverse colon|transverse colon mucosa of organ|transverse colon mucosa|organ mucosa of transverse colon|transverse colon organ mucosa|transverse colon mucous membrane owl:Class MONDO:0019908 biolink:NamedThing ring chromosome 15 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. tmpak2llvmy_mondo_relaxed.owl R15|Ring chromosome 15 syndrome|Ring chromosome type 15|chromosome 15 ring|Ring 15 GARD:0001328|UMLS:CN035931|Orphanet:96177|MESH:C538035|ICD10:Q93.2|SCTID:763405000 https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 owl:Class MONDO:0019108 biolink:NamedThing silent sinus syndrome Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. tmpak2llvmy_mondo_relaxed.owl Imploding antrum syndrome SCTID:699802009|ICD9:478.19|UMLS:C3698095|Orphanet:71276 owl:Class MONDO:0014519 biolink:NamedThing chronic mountain sickness, susceptibility to tmpak2llvmy_mondo_relaxed.owl chronic mountain sickness, susceptibility to|Monge disease OMIM:616182|UMLS:C0274294 owl:Class MONDO:0006625 biolink:NamedThing altitude sickness Multiple symptoms associated with reduced oxygen at high altitude. tmpak2llvmy_mondo_relaxed.owl ICD10:T70.2|MESH:D000532|Wikipedia:Altitude_sickness|EFO:1000782 owl:Class HGNC:20151 biolink:NamedThing SLC17A8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010447 biolink:NamedThing intellectual disability, X-linked 19 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked type 19|intellectual disability, X-linked type 19|mental retardation, X-linked 19|RPS6KA3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 19|non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|MRX19 OMIM:300844|MESH:C563141|UMLS:C0796225 owl:Class MONDO:0013669 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 4 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. tmpak2llvmy_mondo_relaxed.owl RAD51D hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|breast-ovarian cancer, familial, susceptibility to, type 4|susceptibility to familial breast-ovarian cancer 4|BROVCA4|breast-ovarian cancer, familial, susceptibility to, 4 OMIM:614291 owl:Class UBERON:0001219 biolink:NamedThing ileocolic vein The ileocolic vein is a vein which drains the ileum, colon, and cecum. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena ileocolica owl:Class PATO:0001789 biolink:NamedThing domed A curvature quality inhering in a bearer by virtue of the bearer's having a shape resembling a dome. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021065 biolink:NamedThing pleural neoplasm A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. tmpak2llvmy_mondo_relaxed.owl pleural neoplasm|pleural cavity tumor|pleural cavity neoplasm (disease)|tumor of the pleura|pleura neoplasm (disease)|neoplasm of the pleura|pleural tumor|neoplasm of pleural cavity|pleura neoplasm|tumor of pleura|neoplasm of pleura|pleura tumor NCIT:C3332|UMLS:C0032229|SCTID:126719004|ONCOTREE:PLEURA owl:Class MONDO:0017178 biolink:NamedThing osteochondritis dissecans Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. tmpak2llvmy_mondo_relaxed.owl short stature and advanced bone AGE, with or without early-onset osteoarthritis and/OR osteochondritis DISSECANS|osteochondritis dissecans|SSOAOD|Koenig disease|osteochondritis dissecans (disease)|OCD|Konig disease|familial osteochondritis dissecans|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|osteochondritis dissecans and short stature|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|König disease|OD osteochondritis dissecans (disease) MESH:D010008|ICD10:M93.2|OMIM:165800|SCTID:82562007|Orphanet:2764|NCIT:C34878|DOID:84|UMLS:C0029421|MedDRA:10031231|ICD9:732.7|ICD10:M93.9|HP:0010886|GARD:0004133|Orphanet:251262 owl:Class UBERON:0001064 biolink:NamedThing ventral pancreatic duct A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. tmpak2llvmy_mondo_relaxed.owl ductus pancreatis ventralis|duct of Wirsung|canal of Wirsung|main pancreatic duct|chief pancreatic duct|pancreatic duct|hepaticopancreatic duct owl:Class HGNC:29679 biolink:NamedThing PAM16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008247 biolink:NamedThing robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl Pierre Robin sequence-oligodactyly syndrome|Pierre Robin syndrome and oligodactyly|Robin sequence and oligodactyly UMLS:C1868309|MESH:C535688|GARD:0004729|Orphanet:3104|ICD10:Q87.0|OMIM:172880 owl:Class CL:2000069 biolink:NamedThing gallbladder fibroblast Any fibroblast that is part of a gallbladder. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5430 TermGenie 2014-10-07T18:41:43Z cell owl:Class CHEBI:48355 biolink:NamedThing non-polar solvent tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4214 biolink:NamedThing GDF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002201 biolink:NamedThing vulvar trichoepithelioma A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. tmpak2llvmy_mondo_relaxed.owl trichoblastoma of mammalian vulva|mammalian vulva trichoblastoma|vulvar trichoblastoma|vulvar trichoepithelioma DOID:2080|UMLS:C1520100|NCIT:C40314 owl:Class MONDO:0010555 biolink:NamedThing X-linked chondrodysplasia punctata 1 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. tmpak2llvmy_mondo_relaxed.owl ARSE X-linked chondrodysplasia punctata|CDPX1|CPXR|X-linked chondrodysplasia punctata caused by mutation in arse|brachytelephalangic chondrodysplasia punctata|arylsulfatase E deficiency|chondrodysplasia punctata 1 X-linked recessive|arse X-linked chondrodysplasia punctata|chondrodysplasia punctata brachytelephalangic|chondrodysplasia punctata, Brachytelephalangic|X-linked chondrodysplasia punctata caused by mutation in ARSE|X-linked chondrodysplasia punctata 1|Cpxr|chondrodysplasia punctata, brachytelephalangic|chondrodysplasia punctata 1, X-linked recessive GARD:0001296|UMLS:C1844853|UMLS:C3669395|ICD10:Q77.3|OMIM:302950|Orphanet:79345 https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive owl:Class HGNC:719 biolink:NamedThing ARSL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007343 biolink:NamedThing isolated congenital digital clubbing Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. tmpak2llvmy_mondo_relaxed.owl acropachy, hereditary|isolated congenital nail clubbing|clubbing of digits|digital clubbing, isolated congenital|isolated congenital acropachy OMIM:119900|Orphanet:217059|ICD10:Q68.1 owl:Class MONDO:0008747 biolink:NamedThing oculocutaneous albinism type 3 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. tmpak2llvmy_mondo_relaxed.owl TYRP1 oculocutaneous albinism|oculocutaneous albinism type III|albinism 3|oculocutaneous albinism caused by mutation in TYRP1|oculocutaneous albinism, type 3|xanthous oculocutaneous albinism|albinism, oculocutaneous, type 3|albinism, oculocutaneous, type III|ROCA|oculocutaneous albinism type 3|rufous OCA|OCA3|Red oculocutaneous albinism|rufous oculocutaneous albinism|Xanthism GARD:0004039|OMIM:203290|SCTID:63450009|DOID:0070097|Orphanet:79433|ICD10:E70.3|GARD:0009641|ICD9:270.2|MESH:C537731 owl:Class HGNC:12450 biolink:NamedThing TYRP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004831 biolink:NamedThing esophagus skeletal muscle A portion of skeletal muscle tissue that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle of esophagus|esophagus skeletal muscle tissue owl:Class HP:0001999 biolink:NamedThing Abnormal facial shape An abnormal morphology (form) of the face or its components. tmpak2llvmy_mondo_relaxed.owl Distortion of face|Unusual facial appearance|Abnormal facial shape|Facial dysmorphism|Malformation of face|Deformity of face|Unusual facies|Distinctive facies|Abnormal morphology of the face|Dysmorphic facies|Dysmorphic facial features|Funny looking face UMLS:C4072832|UMLS:C0266617|SNOMEDCT_US:248200007|SNOMEDCT_US:398302004|SNOMEDCT_US:32003007|UMLS:C0424503|UMLS:C1385263|UMLS:C4072833|SNOMEDCT_US:398206004 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. HP:0004649|HP:0004643|HP:0004652|HP:0005124|HP:0004675|HP:0002004|HP:0004655|HP:0002260 human_phenotype owl:Class MONDO:0018261 biolink:NamedThing Nevada syndrome NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. tmpak2llvmy_mondo_relaxed.owl Nevus epidermicus verrucosus with angiodysplasia and aneurysms Orphanet:370059|ICD10:Q84.8|UMLS:CN204836 owl:Class UBERON:0017649 biolink:NamedThing dorsal body wall The dorsal part of the body wall tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015361 biolink:NamedThing autosomal recessive hereditary demyelinating motor and sensory neuropathy tmpak2llvmy_mondo_relaxed.owl AR demyelinating HMSN Orphanet:140459|UMLS:CN228928|ICD10:G60.0 owl:Class UBERON:0005614 biolink:NamedThing lens anterior epithelium A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex. tmpak2llvmy_mondo_relaxed.owl lens epithelium|anterior epithelium of lens vesicle|anterior surface of lens|lens subcapsular epithelium|subcapsular lens epithelium owl:Class UBERON:0004995 biolink:NamedThing mucosa of body of stomach A mucosa that is part of a body of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of stomach body|mucous membrane of body of stomach|gastric body mucosa|gastric body organ mucosa|organ mucosa of corpus gastricum (ventriculare)|gastric body mucous membrane|corpus gastricum (ventriculare) mucosa|mucous membrane of gastric body|mucous membrane of stomach body|stomach body mucous membrane|mucosa of organ of gastric body|body of stomach mucosa of organ|stomach body organ mucosa|organ mucosa of stomach body|mucous membrane of corpus gastricum (ventriculare)|mucosa of gastric body|mucosa of organ of body of stomach|body of stomach mucous membrane|organ mucosa of body of stomach|stomach body mucosa of organ|corpus gastricum (ventriculare) organ mucosa|body of stomach mucosa|mucosa of corpus gastricum (ventriculare)|gastric body mucosa of organ|corpus gastricum (ventriculare) mucous membrane|stomach body mucosa|corpus gastricum (ventriculare) mucosa of organ|body of stomach organ mucosa|mucosa of organ of corpus gastricum (ventriculare)|organ mucosa of gastric body|mucosa of stomach body owl:Class UBERON:0001161 biolink:NamedThing body of stomach The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. tmpak2llvmy_mondo_relaxed.owl corpus gastricum (ventriculare)|corpus ventriculare|gastric body|stomach body|corpus ventriculi|corpus gastricum|gastric corpus owl:Class MONDO:0001941 biolink:NamedThing blindness (disorder) The lack of vision. It is caused by neurological or physiological factors. tmpak2llvmy_mondo_relaxed.owl blindness|visual impairment|vision loss|vision impairment SCTID:105597003|MESH:D001766|ICD9:369|NCIT:C97109|ICD10:H54|DOID:1432 owl:Class MONDO:0006183 biolink:NamedThing disseminated peritoneal leiomyomatosis A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously. tmpak2llvmy_mondo_relaxed.owl leiomyomatosis peritonealis disseminate|diffuse peritoneal leiomyomatosis|disseminated peritoneal leiomyomatosis|DPL|leiomyomatosis peritonealis disseminata|LPD EFO:1000220|ICD10:D20.1|DOID:5728|SCTID:62557001|NCIT:C3958|UMLS:C0267785|Orphanet:71274|GARD:0012843 owl:Class MONDO:0007052 biolink:NamedThing growth hormone secreting pituitary adenoma 1 tmpak2llvmy_mondo_relaxed.owl acromegaly due to pituitary adenoma 1|familial isolated pituitary adenoma syndrome|pituitary adenoma, familial isolated|pituitary adenoma, growth hormone-secreting, type 1|Somatotrophinoma, familial|isolated familial somatotropinoma|PITA1|pituitary adenoma, growth hormone-secreting, 1|PAGH1|somatotropinoma, familial isolated|pituitary adenoma 1, multiple types|pituitary adenoma predisposition GARD:0010959|OMIM:102200 Editor note: consider splitting OMIM owl:Class PO:0025477 biolink:NamedThing floral organ primordium A primordium (PO:0025127) that is committed to the development of a floral organ (PO:0025395) and is part of a reproductive shoot apex (PO:0025222). tmpak2llvmy_mondo_relaxed.owl floral structure primordia (exact, plural)|花器官原基 (Japanese, exact)|primordio de organo floral (Spanish, exact)|portion of floral structure primordium tissue (exact) PO_GIT:465 If annotating to a primordium of a floral structure, it is better to use the more specific term, such as petal primordium (PO:0000021) or anther primordium (PO:0006089). rwalls 2012-04-26T03:57:09Z plant_anatomy owl:Class PO:0025222 biolink:NamedThing reproductive shoot apex A shoot apex that has as part a reproductive shoot apical meristem. tmpak2llvmy_mondo_relaxed.owl ápice reproductivo del epiblasto (epiblastema) (Spanish, exact)|生殖シュート頂、茎頂 (Japanese, exact) rwalls 2010-12-20T08:47:03Z plant_anatomy owl:Class UBERON:0010023 biolink:NamedThing dorsal part of pharyngeal pouch 2 tmpak2llvmy_mondo_relaxed.owl dorsal pharyngeal pouch 2 endoderm|dorsal pharyngeal pouch 2|dorsal elongation of second pouch endoderm|dorsal 2nd branchial pouch|dorsal branchial pouch 2 endoderm owl:Class MONDO:0007688 biolink:NamedThing Myhre syndrome Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. tmpak2llvmy_mondo_relaxed.owl Myhre syndrome|Growth-mental deficiency syndrome of Myhre|MYHRS|Growth mental deficiency syndrome of Myhre|LAPS syndrome|MYHRE syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|laryngotracheal stenosis, arthropathy, prognathism, and short stature|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome SCTID:699316006|NCIT:C123815|ICD9:759.89|MESH:C537620|OMIM:139210|ICD10:Q87.8|UMLS:C0796081|Orphanet:2588|GARD:0002572 https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome owl:Class OBO:CHR_9606-chrXq22 biolink:NamedThing chrXq22 (Human) tmpak2llvmy_mondo_relaxed.owl 109400000 99100000 hg38 owl:Class SO:0001019 biolink:NamedThing copy_number_variation A variation that increases or decreases the copy number of a given region. tmpak2llvmy_mondo_relaxed.owl CNV|copy number variation|copy number polymorphism|CNP owl:Class HGNC:12420 biolink:NamedThing TUFM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008104 biolink:NamedThing Noonan syndrome 1 Noonan syndrome caused by mutations in the PTPN11 gene. tmpak2llvmy_mondo_relaxed.owl Turner phenotype with normal karyotype|Noonan syndrome 1|Noonan syndrome|Male Turner syndrome|female pseudo-Turner syndrome|pterygium colli syndrome|Noonan syndrome type 1|NS1 GARD:0007223|UMLS:C4551602|DOID:0060578|OMIM:163950|NCIT:C75459 https://github.com/monarch-initiative/mondo/issues/2554 owl:Class HGNC:9644 biolink:NamedThing PTPN11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003070 biolink:NamedThing axillary lymphadenitis An infection of the lymph nodes in the axilla. tmpak2llvmy_mondo_relaxed.owl axilla lymphadenitis (disease)|lymphadenitis (disease) of axilla|axillary adenitis|axillary lymphadenitis NCIT:C27333|UMLS:C0919797|DOID:4640 owl:Class MONDO:0016282 biolink:NamedThing rhabdomyosarcoma of the cervix uteri A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma (disease) of uterine cervix|uterine cervix rhabdomyosarcoma (disease)|cervical rhabdomyosarcoma|CERMS|uterine cervix rhabdomyosarcoma UMLS:CN201072|UMLS:C4289809|Orphanet:213802|ICD10:C53.1|ICD10:C53.0|ICD10:C53.8|ONCOTREE:CERMS|NCIT:C128048|SCTID:763408003 owl:Class MONDO:0018173 biolink:NamedThing acute opioid poisoning Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. tmpak2llvmy_mondo_relaxed.owl ICD10:T40.2|ICD10:T40.1|UMLS:CN227277|Orphanet:35889|ICD10:T40.0 owl:Class GO:0007507 biolink:NamedThing heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpak2llvmy_mondo_relaxed.owl cardiac development|dorsal vessel development owl:Class GO:0042633 biolink:NamedThing hair cycle The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014077 biolink:NamedThing cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. tmpak2llvmy_mondo_relaxed.owl cobblestone lissencephaly without muscular or ocular involvement|LIS5|lissencephaly type 5|lissencephaly 5|cobblestone lissencephaly without muscular or eye involvement|lissencephaly type 2 without muscular or eye involvement|lissencephaly type 2 without muscular or ocular involvement OMIM:615191|ICD10:Q04.3|UMLS:C3554657|Orphanet:352682 owl:Class HGNC:6486 biolink:NamedThing LAMB1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10243 biolink:NamedThing Cowpox virus tmpak2llvmy_mondo_relaxed.owl CPXV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020174 biolink:NamedThing precancerous lesion of palpebral epidermis A precancerous condition that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl skin of eyelid precancerous condition Orphanet:98583 owl:Class UBERON:0035129 biolink:NamedThing pes cartilage element tmpak2llvmy_mondo_relaxed.owl foot cartilage condensation owl:Class HGNC:3581 biolink:NamedThing BPTF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015008 biolink:NamedThing amelogenesis imperfecta, type 1J tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, type Ij|amelogenesis imperfecta, type 1J|AI1J OMIM:617297 owl:Class HGNC:14376 biolink:NamedThing ACP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000878 biolink:NamedThing cytomegalovirus retinitis Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. tmpak2llvmy_mondo_relaxed.owl CMV retinitis|Cytomegalovirus retinitis|Cytomegalovirus caused retinitis|cytomegalovirus retinitis|Retinitis, Cytomegaloviral|Cytomegaloviral Retinitis EFO:1001302|SCTID:22455005|DOID:0080160|GARD:0009531|MESH:D017726|NCIT:C50521|UMLS:C0206178 https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis owl:Class CL:0000029 biolink:NamedThing neural crest derived neuron tmpak2llvmy_mondo_relaxed.owl neuron neural crest derived cell owl:Class UBERON:0005953 biolink:NamedThing outflow part of right ventricle Anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk tmpak2llvmy_mondo_relaxed.owl RVOT|right ventricular outflow tract|pulmonary conus|right ventricle pulmonary outflow tract|outflow tract of right ventricle|infundibulum of right ventricle|conus arteriosus (infundibulum)|infundibulum|arterial cone|pulmonary cone|conus arteriosus owl:Class UBERON:0004227 biolink:NamedThing kidney pelvis smooth muscle the smooth muscle tissue surrounding the urothelium of the kidney pelvis tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of renal pelvis|renal pelvis smooth muscle|pelvic smooth muscle|kidney pelvis smooth muscle owl:Class MONDO:0003250 biolink:NamedThing benign granular cell tumor A granular cell tumor that is confined to the site of origin, without metastatic potential. tmpak2llvmy_mondo_relaxed.owl benign granular cell neoplasm|benign granular cell tumor|granular cell tumor, benign|benign granular cell myoblastoma|myoblastoma DOID:5039|UMLS:C0027043|NCIT:C3252 owl:Class MONDO:0011505 biolink:NamedThing familial hypobetalipoproteinemia 2 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. tmpak2llvmy_mondo_relaxed.owl FHBL2|ANGPTL3 hypobetalipoproteinemia|hypobetalipoproteinemia, familial, 2|hypobetalipoproteinemia caused by mutation in ANGPTL3|combined familial hypolipidemia|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia, familial, type 2|hypolipidemia, familial, combined|familial hypobetalipoproteinemia 2 DOID:0111061|UMLS:C1857970|OMIM:605019|MESH:C565732 owl:Class HGNC:491 biolink:NamedThing ANGPTL3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4922 biolink:NamedThing HK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010363 biolink:NamedThing intellectual disability, X-linked 91 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. tmpak2llvmy_mondo_relaxed.owl MRX91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|mental retardation, X-linked type 91|mental retardation, X-linked 91|intellectual disability, X-linked 91|ZDHHC15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 91 UMLS:C1845142|OMIM:300577|MESH:C564482 owl:Class HGNC:20342 biolink:NamedThing ZDHHC15 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15520 biolink:NamedThing LPAR6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000908 biolink:NamedThing arrhythmogenic right ventricular dysplasia 13 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 13|ARVD13|arrhythmogenic right ventricular cardiomyopathy 13|arrhythmogenic right ventricular dysplasia type 13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|ARVC13|familial arrhythmogenic right ventricular dysplasia 13|arrhythmogenic right ventricular dysplasia, familial, type 13 OMIM:615616|ICD10:I42.8|UMLS:C3810138|DOID:0110084 owl:Class HGNC:2511 biolink:NamedThing CTNNA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013339 biolink:NamedThing dilated cardiomyopathy 1GG Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1Gg|cardiomyopathy, dilated, 1GG|CMD1GG|dilated cardiomyopathy type 1GG|SDHA familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in SDHA OMIM:613642|UMLS:C3150898|ICD10:I42.0|DOID:0110435 owl:Class MONDO:0010167 biolink:NamedThing urocanic aciduria Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. tmpak2llvmy_mondo_relaxed.owl urocanic aciduria|urocanic aciduria (disease)|UROCD|encephalopathy due to urocanase deficiency|urocanase deficiency urocanic aciduria (disease) SCTID:60952007|GARD:0008539|MESH:C536479|Orphanet:210128|ICD10:E70.8|HP:0012237|UMLS:C0268514|OMIM:276880 owl:Class MONDO:0010222 biolink:NamedThing X-linked Opitz G/BBB syndrome X-linked form of Opitz G/BBB syndrome. tmpak2llvmy_mondo_relaxed.owl Opitz G/BBB syndrome, X-linked|Opitz-G syndrome, type 1|X-linked Opitz G/BBB syndrome|Opitz syndrome|Opitz GBBB syndrome, type 1|GBBB1|Opitz GBBB syndrome, X-linked|telecanthus-hypospadias syndrome|hypertelorism-hypospadias syndrome|Opitz Bbbg syndrome, type 1|Opitz GBBB syndrome, type I|XLOS|hypertelorism with esophageal Abnormality and hypospadias|X-linked Opitz BBB/G syndrome|X-linked Opitz syndrome|Opitz syndrome, X-linked OMIM:300000|ICD10:Q87.8|Orphanet:306597 owl:Class ENVO:00000309 biolink:NamedThing depression A landform sunken or depressed below the surrounding area. tmpak2llvmy_mondo_relaxed.owl tidal basin|pans|barrier basin|pan|depression|non tidal basin|pan (geologic) owl:Class PATO:0001689 biolink:NamedThing decreased elevation An elevation which is relatively low. tmpak2llvmy_mondo_relaxed.owl low elevation owl:Class MONDO:0009789 biolink:NamedThing nonarteritic anterior ischemic optic neuropathy, susceptibility to tmpak2llvmy_mondo_relaxed.owl Naion, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to|susceptibility to nonarteritic anterior ischemic optic neuropathy OMIM:258660 owl:Class HGNC:4439 biolink:NamedThing GP1BA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013951 biolink:NamedThing peroxisome biogenesis disorder 12A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group J|Cgj|Cg14|peroxisome biogenesis disorder 12A (Zellweger)|peroxisome biogenesis disorder, complementation group 14|PBD12A OMIM:614886|UMLS:C3554002|DOID:0080486 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0012986 biolink:NamedThing bilateral parasagittal parieto-occipital polymicrogyria tmpak2llvmy_mondo_relaxed.owl polymicrogyria, bilateral temporooccipital|BTOP MESH:C567201|OMIM:612691|Orphanet:208441|ICD10:Q04.3|GARD:0010785|UMLS:C2675191 https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria owl:Class MONDO:0011504 biolink:NamedThing NDE1-related microhydranencephaly NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. tmpak2llvmy_mondo_relaxed.owl MHAC|microhydranencephaly|hydranencephaly and microcephaly GARD:0010216|MESH:C537555|UMLS:C1857977|Orphanet:443162|ICD10:Q04.8|OMIM:605013 owl:Class HGNC:17619 biolink:NamedThing NDE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001130 biolink:NamedThing nasal cavity lymphoma A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. tmpak2llvmy_mondo_relaxed.owl nasal cavity lymphoma|lymphoma of nasal cavity|primary nasal cavity lymphoma|lymphoma of the nasal cavity NCIT:C6074|UMLS:C1334921|DOID:10813 owl:Class MONDO:0014596 biolink:NamedThing lissencephaly 7 with cerebellar hypoplasia tmpak2llvmy_mondo_relaxed.owl LIS7|lissencephaly 7 with cerebellar hypoplasia OMIM:616342|UMLS:C4225359 owl:Class HGNC:1774 biolink:NamedThing CDK5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008458 biolink:NamedThing spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. tmpak2llvmy_mondo_relaxed.owl ATXN2 autosomal dominant cerebellar ataxia type I|amyotrophic lateral sclerosis type 13|OPCA2|spinocerebellar ataxia with slow eye movements|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|spinocerebellar ataxia, Cuban type|spinocerebellar ataxia 2|olivopontocerebellar atrophy Holguin type|spinocerebellar ataxia Cuban type|Wadia swami syndrome|cerebellar Degeneration with slow eye movements|spinocerebellar atrophy 2|amyotrophic lateral sclerosis, susceptibility to, 13|ALS13|SCA 2|olivopontocerebellar atrophy, Holguin type|olivopontocerebellar atrophy 2|SCA2|spinocerebellar ataxia type 2|spinocerebellar Degeneration with slow eye movements|amyotrophic lateral sclerosis 13|Wadia-swami syndrome NCIT:C148315|OMIM:183090|UMLS:C0752121|ICD10:G11.2|DOID:0050955|SCTID:715751004|Orphanet:98756|GARD:0004072 owl:Class HGNC:10555 biolink:NamedThing ATXN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003805 biolink:NamedThing malignant pericardial mesothelioma A rare neoplasm of mesothelial origin that arises from the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium mesothelioma|pericardium malignant mesothelioma (disease)|malignant mesothelioma of pericardium|pericardial mesothelioma|pericardial malignant mesothelioma|malignant mesothelioma (disease) of pericardium|malignant pericardial mesothelioma|malignant mesothelioma of the pericardium UMLS:C0346110|ICD10:C45.2|SCTID:109383000|UMLS:C1335381|DOID:6201|NCIT:C7631|HP:0100004 owl:Class UBERON:0003388 biolink:NamedThing mesothelium of pericardial cavity A mesothelium that is part of a pericardium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pericardial cavity meso-epithelium|cavity of pericardial sac meso-epithelium|cavity of pericardial sac mesothelium|pericardial cavity mesothelium|meso-epithelium of cavity of pericardial sac|mesothelium of cavity of pericardial sac|meso-epithelium of pericardial cavity owl:Class MONDO:0024884 biolink:NamedThing metastatic carcinoma in the bone A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. tmpak2llvmy_mondo_relaxed.owl metastatic carcinoma to the bone|metastatic carcinoma in the bone UMLS:C0700110|NCIT:C36082 owl:Class HGNC:19412 biolink:NamedThing ZMYND10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013269 biolink:NamedThing autosomal recessive nonsyndromic deafness 91 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 91|autosomal recessive deafness 91|DFNB91|deafness, autosomal recessive type 91|autosomal recessive nonsyndromic deafness 91|deafness, autosomal recessive 91|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|SERPINB6 autosomal recessive nonsyndromic deafness OMIM:613453|UMLS:C3150704|DOID:0110536|ICD10:H90.3 owl:Class HGNC:8950 biolink:NamedThing SERPINB6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015060 biolink:NamedThing sphenoid endochondral element A sphenoid bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl sphenoid bone skeletal element|sphenoid element owl:Class MONDO:0021281 biolink:NamedThing cavernous hemangioma of retina A cavernous hemangioma that involves the retina. tmpak2llvmy_mondo_relaxed.owl cavernous hemangioma of the retina|retina cavernous angioma|cavernous angioma of retina|retinal cavernous hemangioma|retinal cavernous angioma|retina cavernous hemangioma|cavernous angioma of the retina UMLS:C0730304|SCTID:312937006|NCIT:C4921 owl:Class UBERON:0011362 biolink:NamedThing cranial blood vasculature A blood vasculature that is part of a head. tmpak2llvmy_mondo_relaxed.owl cranial blood vessels|cranial blood vessel|set of blood vessels of head owl:Class N105469154055442298201f8689a35e19 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015183 biolink:NamedThing short bowel syndrome Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpak2llvmy_mondo_relaxed.owl acquired short bowel syndrome|short gut syndrome MESH:D012778|Orphanet:104008|GARD:0001502|DOID:10605|MedDRA:10049416|ICD9:579.3|SCTID:26629001|NCIT:C99059|UMLS:C0036992 https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome owl:Class UBERON:0014686 biolink:NamedThing angular vein The angular vein formed by the junction of the frontal vein and supraorbital vein, runs obliquely downward, on the side of the root of the nose, to the level of the lower margin of the orbit, where it becomes the anterior facial vein. It receives the external nasal veins of the ala nasi, and communicates with the superior ophthalmic vein through the nasofrontal vein, thus establishing an important anastomosis between the anterior facial vein and the cavernous sinus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012266 biolink:NamedThing preeclampsia/eclampsia 4 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. tmpak2llvmy_mondo_relaxed.owl STOX1 preeclampsia|PREECLAMPSIA/eclampsia 4|Preeclampsia/eclampsia type 4|preeclampsia/eclampsia 4|PEE4|preeclampsia caused by mutation in STOX1 MESH:C563724|OMIM:609404|UMLS:C1836255 owl:Class HGNC:23508 biolink:NamedThing STOX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005188 biolink:NamedThing iatrogenic Kaposi's sarcoma A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. tmpak2llvmy_mondo_relaxed.owl iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma UMLS:C1334149|NCIT:C35873|EFO:0002613 owl:Class MONDO:0100426 biolink:NamedThing iatrogenic A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:19380 biolink:NamedThing RNU12 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009664 biolink:NamedThing gut mesentery tmpak2llvmy_mondo_relaxed.owl peritoneal cavity mesentary|peritoneal mesentary owl:Class MONDO:0012691 biolink:NamedThing LEOPARD syndrome 2 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. tmpak2llvmy_mondo_relaxed.owl LPRD2|Leopard syndrome type 2|leopard syndrome 2|LEOPARD syndrome 2 UMLS:C1969056|DOID:0080549|OMIM:611554|MESH:C537117 owl:Class HGNC:14289 biolink:NamedThing NLGN3 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:26348 biolink:NamedThing prosthetic group A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. tmpak2llvmy_mondo_relaxed.owl prosthetic groups|groupe prosthetique|prosthetic group owl:Class MONDO:0011831 biolink:NamedThing arrhythmogenic right ventricular dysplasia 8 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 8|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|ARVD8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia type 8|arrhythmogenic right ventricular dysplasia, familial, 8|arrhythmogenic right ventricular dysplasia 8|ARVC8|familial arrhythmogenic right ventricular dysplasia 8|arrhythmogenic right ventricular dysplasia, familial, type 8 OMIM:607450|UMLS:C1843896|ICD10:I42.8|DOID:0110076|MESH:C564400 owl:Class UBERON:0002265 biolink:NamedThing olfactory tract White matter tract that contains projections from the olfactory bulb to other parts of the brain tmpak2llvmy_mondo_relaxed.owl tractus olfactorium|olfactory stalk|pedunclulus olfactorius|olfactory peduncle|tractus olfactorius owl:Class FOODON:00002239 biolink:NamedThing shrimp food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411237 biolink:NamedThing shrimp tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001688 biolink:NamedThing increased elevation An elevation which is relatively high. tmpak2llvmy_mondo_relaxed.owl elevated|high elevation owl:Class MONDO:0009007 biolink:NamedThing Jalili syndrome Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). tmpak2llvmy_mondo_relaxed.owl Jalili syndrome|cone-rod dystrophy amelogenesis imperfecta|cone rod dystrophy-amelogenesis imperfecta syndrome|cone-rod dystrophy and amelogenesis imperfecta|cone-rod dystrophy with amelogenesis imperfecta DOID:0111404|GARD:0001463|OMIM:217080|MESH:C000596385|UMLS:CN200616|ICD9:362.75|Orphanet:1873|UMLS:C3495589|ICD10:H35.5|ICD9:520.5|SCTID:707608003 https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta owl:Class MONDO:0005393 biolink:NamedThing gout A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. tmpak2llvmy_mondo_relaxed.owl gout|gouty arthropathy|articular gout|gouty arthritis|chronic gout|tophaceous disease|tophaceous gout ICD9:274.9|SCTID:190828008|UMLS:C0018099|ICD9:274.0|DOID:13189|ICD10:M10|ICD9:274|UMLS:C0003868|MESH:D006073|ICD10:M10.9|EFO:0004274|NCIT:C34650|ICD9:274.00 owl:Class MONDO:0012252 biolink:NamedThing rhabdoid tumor predisposition syndrome 1 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. tmpak2llvmy_mondo_relaxed.owl At/RT|rhabdoid tumor predisposition syndrome 1|malignant rhabdoid tumor, somatic|teratoid tumor, atypical|familial rhabdoid tumor caused by mutation in SMARCB1|rhabdoid tumor predisposition syndrome type 1|RTPS1|SMARCB1 familial rhabdoid tumor|brain tumor, posterior fossa, of infancy, familial OMIM:609322 owl:Class MONDO:0012249 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 2 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. tmpak2llvmy_mondo_relaxed.owl HNPCC2|colorectal cancer, hereditary nonpolyposis, type 2|colon cancer, familial nonpolyposis, type 2|Hereditary nonpolyposis colorectal cancer type 2|Hereditary non-polyposis colon cancer type 2|Lynch 2 syndrome|familial non-polyposis colon cancer type 2|COCA2 MESH:D055847|DOID:0070274|OMIM:609310 owl:Class HGNC:7127 biolink:NamedThing MLH1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:36059 biolink:NamedThing hydroxy monocarboxylic acid anion Any monocarboxylic acid anion carrying at least one hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion|hydroxymonocarboxylic acid anions owl:Class CHEBI:35868 biolink:NamedThing hydroxy monocarboxylic acid Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxy acid|hydroxy monocarboxylic acids owl:Class UBERON:0002085 biolink:NamedThing interatrial septum A cardiac septum that divides the left and right atria of the heart. tmpak2llvmy_mondo_relaxed.owl interatrial septal wall|atrial septum|atrium septum owl:Class MONDO:0018643 biolink:NamedThing susceptibility to localized juvenile periodontitis tmpak2llvmy_mondo_relaxed.owl ICD10:D71|Orphanet:447740 owl:Class N3e65364ae7a74e77aeffee4e60e25914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005049 biolink:NamedThing intracranial hemorrhage Bleeding within the cranium. tmpak2llvmy_mondo_relaxed.owl ICD9:432.9|UMLS:CN236663|MESH:D020300|EFO:0000551 Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207 owl:Class UBERON:0003980 biolink:NamedThing cerebellum fissure One of a set of deep furrows which divide the lobules of the cerebellum. Examples: postcentral, primary and secondary furrows tmpak2llvmy_mondo_relaxed.owl cerebellar fissures set|cerebellar sulci|cerebellar sulcus|cerebellar fissure|sulcus of cerebellum|fissurae cerebelli|cerebellar fissures|set of cerebellar fissures owl:Class GO:0099103 biolink:NamedThing channel activator activity Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpak2llvmy_mondo_relaxed.owl channel gating activity owl:Class MONDO:0008250 biolink:NamedThing isolated growth hormone deficiency type II tmpak2llvmy_mondo_relaxed.owl isolated growth hormone deficiency, type II|IGHD II|autosomal dominant isolated growth hormone deficiency|Growth hormone deficiency, isolated, autosomal dominant|congenital IGHD type II|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|congenital isolated growth hormone deficiency type II|congenital isolated GH deficiency type II|IGHD 2|IGHD2|Growth hormone deficiency, isolated autosomal dominant|isolated Growth hormone deficiency, type 2|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|isolated growth hormone deficiency type 2 OMIM:173100|GARD:0001696|DOID:0060872|UMLS:C0271567|SCTID:237687003|MESH:C562704|ICD10:E23.0|Orphanet:231679 https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 owl:Class OBO:MFOMD_0000105 biolink:NamedThing enuresis The habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpak2llvmy_mondo_relaxed.owl The child must be at least five years old and must void inappropriately at least twice per week for at least three months owl:Class UBERON:0010038 biolink:NamedThing fundic gastric gland The fundus glands (or fundic glands, or gastric glands) are found in the body and fundus of the stomach. They are simple tubes, two or more of which open into a single duct. tmpak2llvmy_mondo_relaxed.owl gastric fundal gland|glandulae gastricae|fundus gland|gastric fundus gland|gastric gland of fundus of stomach|fundal gland owl:Class OBO:CHR_9606-chr19q13.11 biolink:NamedThing chr19q13.11 (Human) tmpak2llvmy_mondo_relaxed.owl 35100000 31900000 hg38 owl:Class MONDO:0013387 biolink:NamedThing developmental and epileptic encephalopathy, 7 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 7|epileptic encephalopathy, early infantile, 7|DEE7|EIEE7|KCNQ2-NEE|KCNQ2-related neonatal epileptic encephalopathy|KCNQ2-related epileptic encephalopathy|KCNQ2-related disorders Orphanet:439218|DOID:0080462|UMLS:C3150986|GARD:0013060|OMIM:613720|ICD10:G40.4 owl:Class HGNC:6296 biolink:NamedThing KCNQ2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006206 biolink:NamedThing pyrimidine nucleobase metabolic process The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. tmpak2llvmy_mondo_relaxed.owl pyrimidine base metabolic process|pyrimidine metabolism|pyrimidine metabolic process|pyrimidine base metabolism owl:Class HGNC:28337 biolink:NamedThing C9orf72 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014958 biolink:NamedThing Harel-Yoon syndrome tmpak2llvmy_mondo_relaxed.owl Harel-Yoon syndrome; HAYOS|Harel-Yoon syndrome|HAYOS UMLS:C4310677|OMIM:617183 owl:Class HGNC:6953 biolink:NamedThing CD46 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008378 biolink:NamedThing retinitis pigmentosa 9 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene. tmpak2llvmy_mondo_relaxed.owl RP9|retinitis pigmentosa caused by mutation in RP9|retinitis pigmentosa type 9|RP9 retinitis pigmentosa|RP 9|retinitis pigmentosa 9 ICD10:H35.5|MESH:C566716|DOID:0110387|GARD:0010382|UMLS:C1867300|OMIM:180104 https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9 owl:Class ENVO:00002264 biolink:NamedThing waste material A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000665 biolink:NamedThing waste role A role that is realized in some process wherein the bearer is discarded or not utilized further. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000657 biolink:NamedThing secondary spermatocyte One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. tmpak2llvmy_mondo_relaxed.owl FMA:72293|CALOHA:TS-2195|FBbt:00004941|BTO:0000709 cell owl:Class CL:0000656 biolink:NamedThing primary spermatocyte A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. tmpak2llvmy_mondo_relaxed.owl FMA:72292|CALOHA:TS-2194|BTO:0001115 cell owl:Class OBO:CHR_9606-chr9p13 biolink:NamedThing chr9p13 (Human) tmpak2llvmy_mondo_relaxed.owl 39000000 33200000 hg38 owl:Class CHEBI:36333 biolink:NamedThing local anaesthetic Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block. tmpak2llvmy_mondo_relaxed.owl local anesthetics|local anaesthetics|anesthesique local|Lokalanaesthetikum|local anaesthetic owl:Class UBERON:0009477 biolink:NamedThing associated mesenchyme of otic placode Mesenchyme that is part of a otic placode. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030603 biolink:NamedThing Klebsiella infectious disease Infections with bacteria of the genus KLEBSIELLA. tmpak2llvmy_mondo_relaxed.owl infection, Klebsiella|Klebsiella caused disease or disorder|infections, Klebsiella|Klebsiella infection|Klebsiella disease or disorder GARD:0010085|EFO:1001353|SCTID:721756002|MESH:D007710 owl:Class MONDO:0015060 biolink:NamedThing mosaic trisomy 3 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. tmpak2llvmy_mondo_relaxed.owl trisomy 3 mosaicism|Mosaic trisomy chromosome 3|Mosaic trisomy type 3 GARD:0005342|ICD10:Q92.1|SCTID:764627005|Orphanet:100071|UMLS:CN073992 owl:Class MONDO:0009597 biolink:NamedThing metaphyseal chondrodysplasia, Spahr type tmpak2llvmy_mondo_relaxed.owl metaphyseal dysplasia, Spahr type|metaphyseal chondrodysplasia, Spahr type|metaphyseal chondrodysplasia Spahr type|Spahr type metaphyseal chondrodysplasia|MDST OMIM:250400|UMLS:C0432225|Orphanet:2501|SCTID:254084008|GARD:0003563|MESH:C537353|ICD10:Q78.5 owl:Class GO:0099004 biolink:NamedThing calmodulin dependent kinase signaling pathway Any signal transduction pathway involving calmodulin dependent kinase activity. tmpak2llvmy_mondo_relaxed.owl CAMK signaling pathway owl:Class MONDO:0019567 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 1 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, type I|EDSCL1|Ehlers-Danlos syndrome, type 1|type I Ehlers-Danlos syndrome|EDS I NCIT:C125696|SCTID:83470009|ICD10:Q79.6|MESH:C536194|UMLS:C0268335|Orphanet:90309|DOID:14720|OMIM:130000 owl:Class HGNC:2209 biolink:NamedThing COL5A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007723 biolink:NamedThing Hirschsprung disease, susceptibility to, 1 Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene. tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease, susceptibility to, type 1|HSCR1|susceptibility to Hirschsprung disease 1|Hirschsprung disease, susceptibility to, 1|RET Hirschsprung disease|Hirschsprung disease, protection against|Hirschsprung disease|megacolon, aganglionic|aganglionic megacolon|Hirschsprung disease caused by mutation in RET UMLS:C2931876|OMIM:142623 owl:Class GO:0004737 biolink:NamedThing pyruvate decarboxylase activity Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. tmpak2llvmy_mondo_relaxed.owl alpha-carboxylase activity|alpha-ketoacid carboxylase activity|pyruvic decarboxylase activity|2-oxo-acid carboxy-lyase (aldehyde-forming)|2-oxo-acid carboxy-lyase activity owl:Class UBERON:0013161 biolink:NamedThing left lateral ventricle A telencephalic ventricle that is in_the_left_side_of a telencephalon. tmpak2llvmy_mondo_relaxed.owl left telencephalic ventricle owl:Class MONDO:0007974 biolink:NamedThing intellectual disability, autosomal dominant 1 An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 1|MBD5 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 1|MRD1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|autosomal dominant intellectual disability 1|autosomal dominant non-syndromic intellectual disability 1|mental retardation, autosomal dominant type 1|intellectual disability, autosomal dominant type 1|chromosome 2Q23.1 deletion syndrome|autosomal dominant mental retardation 1 NCIT:C141424|DOID:0070031|OMIM:156200|MESH:C566947 owl:Class HGNC:20444 biolink:NamedThing MBD5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018135 biolink:NamedThing fibrocollagenous connective tissue tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2928 biolink:NamedThing DMD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042980 biolink:NamedThing Westphal disease tmpak2llvmy_mondo_relaxed.owl HD- Westphal variant|Westphal variant of Huntington's disease|Westphal disease MEDGEN:224821|MESH:C536694|UMLS:C1279186|GARD:0005557|GTR:AN0099344|GTR:AN0099343|SCTID:182747006|GTR:AN0099345 owl:Class MONDO:0004671 biolink:NamedThing penis carcinoma in situ A in situ carcinoma that involves the penis. tmpak2llvmy_mondo_relaxed.owl grade III penile intraepithelial neoplasia|penile intraepithelial neoplasia grade III|stage 0 penis carcinoma|penile carcinoma in situ|grade III squamous intraepithelial lesion of penis|Queyrat's erythroplasia|penis in situ carcinoma|Bowen's disease of the penis|erythroplasia of Queyrat|penile carcinoma in situ aJCC v7|carcinoma in situ of the penis|carcinoma in situ of penis|stage 0 penile carcinoma in situ|Bowen disease of the penis|grade III squamous intraepithelial lesion of the penis|Bowen's disease of penis|Queyrat erythroplasia ICD9:233.5|ICD10:D00-D09|ICD10:D07.4|ICDO:8080/2|NCIT:C27790|DOID:8872|SCTID:398831006|UMLS:C0154089 owl:Class UBERON:0009615 biolink:NamedThing midbrain hindbrain boundary neural plate tmpak2llvmy_mondo_relaxed.owl MHB neural plate|midbrain-hindbrain boundary neural plate owl:Class UBERON:0007281 biolink:NamedThing presumptive midbrain hindbrain boundary Embryonic structure that gives rise to the midbrain hindbrain boundary. tmpak2llvmy_mondo_relaxed.owl presumptive MHB|presumptive midbrain-hindbrain boundary owl:Class HGNC:4198 biolink:NamedThing GCM2 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq biolink:NamedThing chrXq (Human) tmpak2llvmy_mondo_relaxed.owl 156040895 61000000 hg38 owl:Class GO:0004345 biolink:NamedThing glucose-6-phosphate dehydrogenase activity Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. tmpak2llvmy_mondo_relaxed.owl G6PD activity|glucose-6-phosphate 1-dehydrogenase activity|NADP-glucose-6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenas|Entner-doudoroff enzyme|GDH|6-phosphoglucose dehydrogenase activity|zwischenferment|NADP-dependent glucose 6-phosphate dehydrogenase activity|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity|D-glucose 6-phosphate dehydrogenase activity|glucose 6-phosphate dehydrogenase (NADP) activity|Zwischenferment|G6PDH owl:Class ECTO:7000045 biolink:NamedThing exposure to stellar radiation A exposure event involving the interaction of an exposure receptor to stellar radiation. tmpak2llvmy_mondo_relaxed.owl stellar radiation exposure owl:Class MONDO:0001017 biolink:NamedThing epididymal adenocarcinoma A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the epididymis|epididymal adenocarcinoma|epididymis adenocarcinoma NCIT:C39957|DOID:10368|UMLS:C1510784 owl:Class HP:0004905 biolink:NamedThing Low levels of vitamin A A reduced concentration of vitamin A. tmpak2llvmy_mondo_relaxed.owl Vitamin A deficiency UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802 human_phenotype owl:Class MONDO:0018291 biolink:NamedThing congenital disorder of glycosylation with intestinal involvement tmpak2llvmy_mondo_relaxed.owl CDG with intestinal involvement 2022-03-01 Orphanet:371188|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class NCBITaxon:137207 biolink:NamedThing Oligoryzomys longicaudatus tmpak2llvmy_mondo_relaxed.owl Oligoryzomys longicaudus GC_ID:1 NCBITaxon:29121 ncbi_taxonomy owl:Class HGNC:26300 biolink:NamedThing ODAPH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013165 biolink:NamedThing epiglottic vallecula A depression in front of the epiglottis, in which food is temporarily gathered as the animal chews. tmpak2llvmy_mondo_relaxed.owl vallecula of epiglottis|vallecula|vallecula epiglottica owl:Class MONDO:0005996 biolink:NamedThing trichuriasis An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. tmpak2llvmy_mondo_relaxed.owl whipworm disease|Trichuris trichiura infection|Trichuris trichiura infectious disease|Trichuris trichiura caused disease or disorder|whipworm infection|trichuriasis infection|infection by Trichuris trichura|Trichuris trichiura disease or disorder|trichocephaliasis MESH:D014257|EFO:0007524|NCIT:C128399|UMLS:C0040954|SCTID:3752003|ICD10:B79|ICD9:127.3|DOID:1252|GARD:0010720 https://rarediseases.info.nih.gov/diseases/10720/trichuriasis owl:Class NCBITaxon:36087 biolink:NamedThing Trichuris trichiura tmpak2llvmy_mondo_relaxed.owl human whipworm GC_ID:1 ncbi_taxonomy owl:Class CL:0000808 biolink:NamedThing DN4 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. tmpak2llvmy_mondo_relaxed.owl DN4 cell|T.DN4.th|DN4 alpha-beta immature T-lymphocyte|DN4 alpha-beta immature T lymphocyte|DN4 immature T cell|DN4 immature T-cell|double negative 4|early cortical thymocyte Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. cell owl:Class MONDO:0008044 biolink:NamedThing myoclonic dystonia 11 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. tmpak2llvmy_mondo_relaxed.owl myoclonus, hereditary essential|SGCE myoclonus-dystonia syndrome|myoclonic dystonia 11|myoclonic dystonia type 11|myoclonus-dystonia syndrome|alcohol-responsive dystonia|DYT11|dystonia, alcohol-responsive|myoclonus-dystonia syndrome caused by mutation in SGCE|myoclonic dystonia|dystonia 11, myoclonic ICD10:G24.1|OMIM:159900|DOID:0090034 owl:Class MONDO:0013391 biolink:NamedThing sterol carrier protein 2 deficiency A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy-dystonia-motor neuropathy syndrome|sterol carrier protein 2 deficiency|SCP2 deficiency|leukoencephalopathy with dystonia and motor neuropathy|LKDMN|leukoencephalopathy - dystonia - motor neuropathy ICD10:E75.2|GARD:0012471|UMLS:C3150990|OMIM:613724|Orphanet:163684 owl:Class HGNC:10606 biolink:NamedThing SCP2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002013 biolink:NamedThing GlyA-positive basophillic erythroblast A basophilic erythroblast that is GlyA-positive. tmpak2llvmy_mondo_relaxed.owl Markers are associated with human cells. tmeehan 2010-04-26T10:41:15Z cell owl:Class CL:0002004 biolink:NamedThing CD34-negative, GlyA-negative proerythroblast A proerythoblast that is CD34-negative and GlyA-negative. tmpak2llvmy_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:31:50Z cell owl:Class UBERON:0002112 biolink:NamedThing smooth muscle of esophagus A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of esophagus|smooth muscle of oesophagus|gullet involuntary muscle|non-striated muscle of oesophagus|esophagus smooth muscle|oesophagus involuntary muscle|non-striated muscle of gullet|gullet smooth muscle|involuntary muscle of esophagus|oesophagus smooth muscle|esophageal smooth muscle|oesophagus smooth muscle tissue|non-striated muscle of esophagus|smooth muscle tissue of oesophagus|oesophagus non-striated muscle|involuntary muscle of oesophagus|esophagus involuntary muscle|esophagus smooth muscle tissue|gullet non-striated muscle|smooth muscle of gullet|esophagus non-striated muscle|smooth muscle tissue of gullet|gullet smooth muscle tissue|involuntary muscle of gullet owl:Class MONDO:0007365 biolink:NamedThing seizures, benign familial neonatal, 1 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. tmpak2llvmy_mondo_relaxed.owl KCNQ2 benign neonatal seizures|seizures, benign familial neonatal, 1, and/or myokymia|epilepsy, benign neonatal, 1, and/or myokymia|seizures, benign familial neonatal, type 1|BFNS1|seizures, benign familial neonatal, 1|benign neonatal seizures caused by mutation in KCNQ2 UMLS:C3149074|MESH:C567743|OMIM:121200 owl:Class MONDO:0003358 biolink:NamedThing anus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl anus leiomyosarcoma|anal leiomyosarcoma|leiomyosarcoma of anus|leiomyosarcoma of the anus UMLS:C1332267|NCIT:C5599|DOID:5267 owl:Class HGNC:2548 biolink:NamedThing CUBN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013556 biolink:NamedThing Hermansky-Pudlak syndrome 4 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome 4|HPS4|Hermansky-Pudlak syndrome type 4|HPS4 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in HPS4 UMLS:C3484357|DOID:0060542|OMIM:614073 owl:Class HGNC:15844 biolink:NamedThing HPS4 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1313 biolink:NamedThing Streptococcus pneumoniae tmpak2llvmy_mondo_relaxed.owl Micrococcus pneumoniae|Diplococcus pneumoniae GC_ID:11 ncbi_taxonomy owl:Class GO:0060037 biolink:NamedThing pharyngeal system development The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016238 biolink:NamedThing solitary fibrous tumor Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). tmpak2llvmy_mondo_relaxed.owl localized fibrous mesothelioma|solitary fibrous tumor|localized fibrous tumor|solitary fibrous tumor/hemangiopericytoma|SFT|submesothelial fibroma|hemangiopericytoma ICD10:D21.9|ICDO:8815/1|UMLS:C1266119|MESH:D054364|ICDO:9051/0|Orphanet:2126|NCIT:C7634|ICD9:238.1|ONCOTREE:SFT|MedDRA:10018825|ICDO:8815/0 owl:Class NCIT:C37123 biolink:NamedThing Neoplastic Spindle-Shaped to Round Cell tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012503 biolink:NamedThing serosa of fundus of stomach A serous membrane that is part of a fundus of stomach. tmpak2llvmy_mondo_relaxed.owl visceral peritoneum of fundus of stomach owl:Class MONDO:0013734 biolink:NamedThing microphthalmia, syndromic 11 Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. tmpak2llvmy_mondo_relaxed.owl syndromic microphthalmia caused by mutation in VAX1|VAX1 syndromic microphthalmia|microphthalmia, syndromic type 11|microphthalmia, syndromic 11|MCOPS11 UMLS:C3553077|OMIM:614402 owl:Class MONDO:0011684 biolink:NamedThing vitiligo-associated multiple autoimmune disease susceptibility 1 tmpak2llvmy_mondo_relaxed.owl vitiligo-associated multiple autoimmune disease susceptibility type 1|systemic lupus erythematosus, vitiligo-related|vitiligo-associated multiple autoimmune disease susceptibility 1|VAMAS1|vitiligo Orphanet:247871|UMLS:C1847835|OMIM:606579 owl:Class HGNC:14374 biolink:NamedThing NLRP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11021 biolink:NamedThing SLC35A1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010187 biolink:NamedThing female urethral gland An urethral gland that is part of a female urethra. tmpak2llvmy_mondo_relaxed.owl urethral gland (female)|female urethra gland|gland of female urethra owl:Class UBERON:0001334 biolink:NamedThing female urethra A urethra that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl urethra muliebris|urethra feminina owl:Class ENVO:01000752 biolink:NamedThing area of barren land An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29666 biolink:NamedThing MTFMT tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22q11.2 biolink:NamedThing chr22q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 25500000 17400000 hg38 owl:Class HGNC:23088 biolink:NamedThing SLC10A7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009430 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. tmpak2llvmy_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive, 1|ARHR1|hypophosphatemia, autosomal recessive|Arhr|hypophosphatemic rickets, autosomal recessive, type 1|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|DMP1 autosomal recessive hypophosphatemic rickets OMIM:241520|MESH:C562792|UMLS:C0342643 owl:Class MONDO:0014802 biolink:NamedThing Cowden syndrome 7 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. tmpak2llvmy_mondo_relaxed.owl Cowden disease caused by mutation in SEC23B|Cowden syndrome 7|Cowden syndrome type 7|SEC23B Cowden disease|CWS7 OMIM:616858|UMLS:C4225179 owl:Class MONDO:0014604 biolink:NamedThing Parkinson disease 21 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. tmpak2llvmy_mondo_relaxed.owl PARK21|Parkinson disease type 21|hereditary late onset Parkinson disease caused by mutation in DNAJC13|Parkinson disease 21|DNAJC13 hereditary late onset Parkinson disease UMLS:C4225353|OMIM:616361|DOID:0111251 owl:Class HGNC:30343 biolink:NamedThing DNAJC13 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012251 biolink:NamedThing ectocervical epithelium A epithelium that is part of a ectocervix. tmpak2llvmy_mondo_relaxed.owl exocervical epithelium owl:Class MONDO:0011944 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl SLEN3|systemic lupus erythematosus with nephritis, susceptibility to, 3 OMIM:607967 owl:Class GO:0030521 biolink:NamedThing androgen receptor signaling pathway Any series of molecular signals generated as a consequence of an androgen binding to its receptor. tmpak2llvmy_mondo_relaxed.owl androgen receptor signalling pathway owl:Class MONDO:0032634 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 31 tmpak2llvmy_mondo_relaxed.owl MC1DN31|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 OMIM:618251 owl:Class UBERON:0036362 biolink:NamedThing wall of anal canal tmpak2llvmy_mondo_relaxed.owl anal canal wall owl:Class MONDO:0015898 biolink:NamedThing adrenogenital syndrome Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. tmpak2llvmy_mondo_relaxed.owl androgenital syndrome|adrenogenital syndrome|adrenogenital disorder|congenital adrenal hyperplasia MedDRA:10061630|SCTID:267395000|MESH:D047808|UMLS:CN200506|ICD9:255.2|UMLS:C0302280|Orphanet:181412 owl:Class MONDO:0017613 biolink:NamedThing intellectual disability-hypotonia-skin hyperpigmentation syndrome tmpak2llvmy_mondo_relaxed.owl Medrano-Roldan syndrome|Medrano Roldan syndrome Orphanet:3050|GARD:0003441 https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome owl:Class GO:1990580 biolink:NamedThing regulation of cytoplasmic translational termination Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002184 biolink:NamedThing cytoplasmic translational termination The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10508 biolink:NamedThing Adenoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001350 biolink:NamedThing parametrium malignant neoplasm A malignant neoplasm involving the parametrium. tmpak2llvmy_mondo_relaxed.owl malignant parametrium neoplasm|cancer of parametrium|parametrium cancer|malignant neoplasm of parametrium SCTID:448674007|DOID:11746|ICD10:C57.3|ICD9:183.4|UMLS:C0153581 owl:Class MONDO:0004700 biolink:NamedThing parotid gland cancer A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of parotid gland|malignant tumor of parotid|parotid cancer|malignant parotid gland tumor|malignant neoplasm of the parotid gland|malignant neoplasm of the parotid|malignant parotid neoplasm|cancer of the parotid gland|malignant tumor of parotid gland|cancer of the parotid|malignant neoplasm of parotid|malignant tumor of the parotid gland|malignant tumor of the parotid|parotid gland cancer|cancer of parotid|malignant parotid gland neoplasm|cancer of parotid gland|malignant parotid tumor UMLS:C0747273|DOID:9036|ICD10:C07|NCIT:C3525|SCTID:363379000|ICD9:142.0|MESH:D010307 owl:Class UBERON:0016632 biolink:NamedThing isthmus of fallopian tube tmpak2llvmy_mondo_relaxed.owl isthmus of oviduct|isthmus of uterine tube|isthmus tubae uterinae|uterine tube isthmus owl:Class MONDO:0009636 biolink:NamedThing mitochondrial DNA depletion syndrome 3 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. tmpak2llvmy_mondo_relaxed.owl DGUOK mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in DGUOK|MTDPS3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|mitochondrial DNA depletion syndrome type 3|mitochondrial DNA depletion syndrome 3 UMLS:C4310935|OMIM:251880|UMLS:C3151513|DOID:0080121|Orphanet:279934 owl:Class UBERON:0010083 biolink:NamedThing future dermis Mesenchyme that has the potential to develop into a dermis. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2468 biolink:NamedThing SMC3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10880 biolink:NamedThing Reoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010225 biolink:NamedThing thalamic complex A nuclear complex which in mammals consists of four parts, the hypothalamus, epithalamus, ventral thalamus, and dorsal thalamus[WP,modified]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003609 biolink:NamedThing seminal vesicle cystadenoma A rare benign cystadenoma that arises from the seminal vesicle. tmpak2llvmy_mondo_relaxed.owl seminal vesicle cystadenoma UMLS:C1519234|NCIT:C39907|DOID:5724 owl:Class MONDO:0016216 biolink:NamedThing adult hepatocellular carcinoma Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. tmpak2llvmy_mondo_relaxed.owl hepatocellular cancer|adult primary hepatocellular carcinoma|adult primary carcinoma of liver cell|adult primary carcinoma of the liver cell|adult primary hepatoma|adult HCC|adult hepatocellular carcinoma|hepatocellular carcinoma of adults|adult hepatoma|adult primary liver cell carcinoma NCIT:C7956|ICD10:C22.0|UMLS:CN200978|UMLS:C0279607|DOID:0070328|Orphanet:210159 owl:Class HGNC:3344 biolink:NamedThing ENAM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009699 biolink:NamedThing action myoclonus-renal failure syndrome Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. tmpak2llvmy_mondo_relaxed.owl action myoclonus-renal failure syndrome|AMRF|EPM4|myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epilepsy, progressive myoclonic, 4, with or without renal failure Orphanet:163696|SCTID:764453009|OMIM:254900 owl:Class UBERON:0016611 biolink:NamedThing auditory hillocks, pharyngeal arch 1 derived A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004487 biolink:NamedThing musculature of forelimb zeugopod Any collection of muscles that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle group of forearm|set of muscles of forearm|musculature of forearm owl:Class MONDO:0034106 biolink:NamedThing developmental and epileptic encephalopathy, 73 tmpak2llvmy_mondo_relaxed.owl rnf13-related severe early-onset epileptic encephalopathy|epileptic encephalopathy, early infantile, 73|DEE73 OMIM:618379|Orphanet:544503 owl:Class HGNC:10057 biolink:NamedThing RNF13 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014664 biolink:NamedThing Joubert syndrome 23 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 23|Joubert syndrome 23|KIAA0586 Joubert syndrome|Joubert syndrome caused by mutation in KIAA0586|JBTS23 DOID:0110992|OMIM:616490|UMLS:C4084822 owl:Class HGNC:19960 biolink:NamedThing KIAA0586 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009475 biolink:NamedThing isovaleric acidemia Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. tmpak2llvmy_mondo_relaxed.owl isovaleric acid CoA dehydrogenase deficiency|isovaleryl CoA carboxylase deficiency|isovaleric acidemia|IVA|isovaleryl-CoA dehydrogenase deficiency|isovaleric acid Coa dehydrogenase deficiency|isovaleric aciduria|Isovalericacidemia|IVD deficiency MESH:C538167|Orphanet:33|DOID:14753|NCIT:C98964|SCTID:87827003|ICD10:E71.1|OMIM:243500|GARD:0000465|ICD10:E71.110|UMLS:C0268575 https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia owl:Class HGNC:6186 biolink:NamedThing IVD tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004538 biolink:NamedThing left kidney A kidney that is part of a left side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005973 biolink:NamedThing Strongylida infectious disease Infections with nematodes of the order strongylida. tmpak2llvmy_mondo_relaxed.owl MESH:D017206|EFO:0007500 owl:Class UBERON:0035435 biolink:NamedThing right suprarenal vein A vein that drains blood from the right adrenal gland into the inferior vena cava. tmpak2llvmy_mondo_relaxed.owl vena suprarenalis (adrenalis) dextra owl:Class MONDO:0013467 biolink:NamedThing immunodeficiency due to ficolin3 deficiency tmpak2llvmy_mondo_relaxed.owl lectin complement activation pathway, defect in, 3|Fcn3 deficiency|immunodeficiency due to ficolin 3 deficiency|ficolin 3 deficiency Orphanet:331190|UMLS:C3151226|OMIM:613860|SCTID:766705006|ICD10:D84.1 owl:Class HGNC:3625 biolink:NamedThing FCN3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011755 biolink:NamedThing female labial swelling A genital swelling that is part of a female reproductive system. tmpak2llvmy_mondo_relaxed.owl labioscrotal swelling of female|labial primordium|labial swelling owl:Class UBERON:0005852 biolink:NamedThing thoracic spinal cord ventral column A subdivision of spinal cord ventral column that is part of a thoracic spinal cord. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000298 biolink:NamedThing mesothelial cell of dura mater A mesothelial cell that is part of the dura mater. tmpak2llvmy_mondo_relaxed.owl squamous mesothelial cell of dura mater FMA:256516 cell owl:Class UBERON:0016447 biolink:NamedThing hair of trunk A strand of hair that is part of a trunk. tmpak2llvmy_mondo_relaxed.owl trunk hair owl:Class MONDO:0034109 biolink:NamedThing congenital myopathy with reduced type 2 muscle fibers tmpak2llvmy_mondo_relaxed.owl OMIM:618414|Orphanet:544602 owl:Class HGNC:7582 biolink:NamedThing MYL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043759 biolink:NamedThing abdominal ectopic pregnancy Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. tmpak2llvmy_mondo_relaxed.owl abdominal Pregnancies|abdominal pregnancy|abdomen ectopic pregnancy|intra-abdominal pregnancy|Pregnancies, abdominal|ectopic pregnancy of abdomen SCTID:82661006|NCIT:C92921|MESH:D011269 owl:Class UBERON:0006297 biolink:NamedThing sublingual gland primordium A primordium that has the potential to develop into a sublingual gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004585 biolink:NamedThing polyhydramnios An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. tmpak2llvmy_mondo_relaxed.owl polyhydramnios|polyhydramnios (disease) polyhydramnios (disease) DOID:8488|MESH:D006831|HP:0001561|ICD10:O40|ICD9:657|ICD9:657.00|SCTID:86203003|ICD9:657.0 May be obsoleted as it represents a finding owl:Class UBERON:0004411 biolink:NamedThing proximal epiphysis of humerus The upper extremity of the humerus (proximal humerus) consists of a large rounded head joined to the body by a constricted portion called the neck, and two eminences, the greater and lesser tubercles. tmpak2llvmy_mondo_relaxed.owl upper extremity of humerus|proximal end of humerus|humeral head|upper end of humerus|proximal humerus|proximal humeral epiphysis|head of the humerus owl:Class MONDO:0012115 biolink:NamedThing scoliosis, isolated, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl IS3|scoliosis, isolated, susceptibility to, 3 OMIM:608765 owl:Class MONDO:0012861 biolink:NamedThing premature ovarian failure 6 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 6|primary ovarian failure caused by mutation in FIGLA|premature ovarian failure type 6|FIGLA primary ovarian failure|Pof6 MESH:C567351|OMIM:612310|UMLS:C2676742 owl:Class HGNC:24669 biolink:NamedThing FIGLA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011273 biolink:NamedThing H syndrome H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). tmpak2llvmy_mondo_relaxed.owl histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|HJCD|Asrar Facharzt Haque syndrome|sinus histiocytosis and massive lymphadenopathy|SLC29A3 spectrum disorder|Rosai-Dorfman disease, familial|pigmented hypertrichosis with insulin-dependent diabetes mellitus|Faisalabad histiocytosis|H syndrome|histiocytosis with Joint contractures and sensorineural deafness|histiocytosis-lymphadenopathy plus syndrome|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss Orphanet:168569|SCTID:711159002|GARD:0010239|ICD10:D76.3|MESH:C535391|GARD:0000581|OMIM:602782|UMLS:C1864445|UMLS:C2930890|MESH:C538322 https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome owl:Class HGNC:23096 biolink:NamedThing SLC29A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008922 biolink:NamedThing Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome 10|cardiomyopathic mitochondrial DNA depletion syndrome 10|Sengers syndrome|cardiomyopathy and cataract|congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)|cataract and cardiomyopathy MESH:C538280|GARD:0001142|Orphanet:1369|DOID:0080132|UMLS:C1859317|SCTID:717812000|OMIM:212350|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome owl:Class HGNC:21869 biolink:NamedThing AGK tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11935 biolink:NamedThing CD40LG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013468 biolink:NamedThing retinitis pigmentosa 59 Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 59|retinitis pigmentosa 59|RP59|retinitis pigmentosa caused by mutation in DHDDS|DHDDS retinitis pigmentosa|congenital disorder of glycosylation, type Ibb DOID:0110352|UMLS:C3151227|ICD10:H35.5|OMIM:613861 owl:Class HGNC:20603 biolink:NamedThing DHDDS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0080135 biolink:NamedThing regulation of cellular response to stress Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001865 biolink:NamedThing concentration of carbon dioxide in an atmosphere The concentration of carbon dioxide when measured in air that is part of an atmosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class N294baaf00e874cb58456f694b0eac6b7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010585 biolink:NamedThing X-linked hypohidrotic ectodermal dysplasia An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. tmpak2llvmy_mondo_relaxed.owl XHED|hypohidrotic ectodermal dysplasia X-linked|hypohidrotic ectodermal dysplasia, X-linked|Eda1|X-linked hypohidrotic ectodermal dysplasia|Xlhed|ectodermal dysplasia 1|X-linked anhidrotic ectodermal dysplasia|ectodermal dysplasia, anhidrotic, X-linked|ectodermal dysplasia, hypohidrotic, 1|ectodermal dysplasia 1, hypohidrotic, X-linked|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|anhidrotic ectodermal dysplasia X-linked|Christ-Siemens-Touraine syndrome|CST syndrome OMIM:305100|Orphanet:181|GARD:0010427|ICD10:Q82.4 owl:Class HGNC:3157 biolink:NamedThing EDA tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004985 biolink:NamedThing mucosa of ejaculatory duct A mucosa that is part of a ejaculatory duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of ejaculatory duct|ejaculatory duct mucous membrane|ejaculatory ductal mucosa|organ mucosa of ejaculatory duct|ejaculatory duct mucosa of organ|ejaculatory duct organ mucosa|mucous membrane of ejaculatory duct|ejaculatory duct mucosa owl:Class GO:1904222 biolink:NamedThing positive regulation of serine C-palmitoyltransferase activity Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpak2llvmy_mondo_relaxed.owl upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|activation of SPT|up regulation of SPT|up-regulation of serine C-palmitoyltransferase activity|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|activation of serine C-palmitoyltransferase activity|positive regulation of 3-oxosphinganine synthetase activity|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of 3-oxosphinganine synthetase activity|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|upregulation of serine C-palmitoyltransferase activity|upregulation of SPT|activation of 3-oxosphinganine synthetase activity|up regulation of serine C-palmitoyltransferase activity|up-regulation of SPT|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of 3-oxosphinganine synthetase activity|positive regulation of SPT|up-regulation of 3-oxosphinganine synthetase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity owl:Class GO:0004758 biolink:NamedThing serine C-palmitoyltransferase activity Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA. tmpak2llvmy_mondo_relaxed.owl acyl-CoA:serine C-2 acyltransferase decarboxylating|3-oxosphinganine synthetase activity|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|serine palmitoyltransferase|SPT owl:Class MONDO:0003364 biolink:NamedThing gallbladder leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of the gallbladder|leiomyosarcoma of gallbladder|gall bladder leiomyosarcoma|leiomyosarcoma of gall bladder|gallbladder leiomyosarcoma NCIT:C5841|DOID:5275|UMLS:C1333746 owl:Class MONDO:0002758 biolink:NamedThing vulva verrucous carcinoma A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. tmpak2llvmy_mondo_relaxed.owl verrucous carcinoma of vulva|verrucous carcinoma of the vulva|mammalian vulva verrucous carcinoma|vulvar verrucous carcinoma DOID:3740|UMLS:C1336983|NCIT:C6383 owl:Class CL:0002673 biolink:NamedThing tongue muscle cell A skeletal muscle cell that is part of the tongue. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-08-16T03:10:02Z cell owl:Class UBERON:0004582 biolink:NamedThing venous system The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. tmpak2llvmy_mondo_relaxed.owl vein system owl:Class GO:0003016 biolink:NamedThing respiratory system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. tmpak2llvmy_mondo_relaxed.owl respiratory gaseous exchange owl:Class GO:0002673 biolink:NamedThing regulation of acute inflammatory response Any process that modulates the frequency, rate, or extent of an acute inflammatory response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001540 biolink:NamedThing bagassosis An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. tmpak2llvmy_mondo_relaxed.owl bagasse extrinsic allergic alveolitis|sugar cane worker pneumonitis|extrinsic allergic alveolitis from bagasse NCIT:C34409|ICD9:495.1|SCTID:67242002|DOID:12522|UMLS:C0004681|ICD10:J67.1 owl:Class ENVO:00002872 biolink:NamedThing bagasse The biomass remaining after sugarcane stalks are crushed to extract their juice. tmpak2llvmy_mondo_relaxed.owl sugarcane bagasse owl:Class MONDO:0014324 biolink:NamedThing pachyonychia congenita 3 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. tmpak2llvmy_mondo_relaxed.owl PC3|KRT6A pachyonychia congenita|pachyonychia congenita 3|pachyonychia congenita type 3|pachyonychia congenita caused by mutation in KRT6A OMIM:615726|UMLS:C3714948 owl:Class HGNC:6443 biolink:NamedThing KRT6A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014786 biolink:NamedThing IgA nephropathy, susceptibility to, 3 Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. tmpak2llvmy_mondo_relaxed.owl IgA glomerulonephritis caused by mutation in SPRY2|IgA nephropathy, susceptibility to, 3|susceptibility to IgA nephropathy 3|IgA nephropathy, susceptibility to, 3; IGAN3|IgA nephropathy, susceptibility to, type 3|SPRY2 IgA glomerulonephritis|IGAN3 OMIM:616818 owl:Class HGNC:11270 biolink:NamedThing SPRY2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005669 biolink:NamedThing black piedra A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. tmpak2llvmy_mondo_relaxed.owl EFO:0007171|UMLS:C0153249|SCTID:33666009|ICD9:111.3|DOID:12711|ICD10:B36.3 owl:Class UBERON:0016545 biolink:NamedThing pharyngeal ectoderm The external part of the developing pharynx that is made of ectoderm. During vertebrate development, pockets form in pharyngeal ectoderm between the pharyngeal arches. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011497 biolink:NamedThing hereditary North American Indian childhood cirrhosis Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. tmpak2llvmy_mondo_relaxed.owl NORTH American Indian childhood cirrhosis|NAIC SCTID:699189004|Orphanet:168583|ICD10:K74.6|UMLS:C1858051|OMIM:604901|MESH:C565737 owl:Class HGNC:1983 biolink:NamedThing UTP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004063 biolink:NamedThing intermediate cell type iris melanoma Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpak2llvmy_mondo_relaxed.owl intermediate cell type uveal melanoma of iris|iris mixed cell melanoma|iris intermediate cell type uveal melanoma|Intermediate cell type iris melanoma NCIT:C6101|UMLS:C1334210|DOID:6993 owl:Class UBERON:0003089 biolink:NamedThing sclerotome Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. tmpak2llvmy_mondo_relaxed.owl sclerotomus|sclerotomes owl:Class MONDO:0010318 biolink:NamedThing FG syndrome 4 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, with or without Nystagmus|mental retardation, X-linked, with or without Nystagmus|FG syndrome 4|FGS4|FG syndrome type 4|X-linked intellectual disability with or without nystagmus|FG syndrome caused by mutation in CASK|FG syndrome caused by mutation in cask|cask FG syndrome|CASK FG syndrome GARD:0009925|UMLS:CN033933|OMIM:300422 https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus owl:Class HGNC:1497 biolink:NamedThing CASK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011715 biolink:NamedThing Seckel syndrome 2 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. tmpak2llvmy_mondo_relaxed.owl Seckel syndrome 2|RBBP8 Seckel syndrome|microcephalic primordial dwarfism 2|Seckel syndrome caused by mutation in RBBP8|Seckel-type dwarfism 2|Seckel syndrome type 2|SCKL2 OMIM:606744|DOID:0070013|MESH:C537534|UMLS:C1847572 owl:Class HGNC:9891 biolink:NamedThing RBBP8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043310 biolink:NamedThing amaurosis fugax Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) tmpak2llvmy_mondo_relaxed.owl momentary blindness|monocular blindness, transient|blindness, transient monocular|amaurosis fugax|amaurosis fugax (one sided temporary vision loss)|transient monocular blindness|blindness, monocular, transient GARD:0009660|SCTID:88032003|NCIT:C84550|MESH:D020757 owl:Class NCBITaxon:5693 biolink:NamedThing Trypanosoma cruzi tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000902 biolink:NamedThing agenesis of the corpus callosum with peripheral neuropathy Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|ACCPN|HMSN/ACC|peripheral neuropathy associated with agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy|Charlevoix disease|agenesis of the corpus callosum with peripheral neuropathy|agenesis of corpus callosum with peripheral neuropathy|corpus callosum agenesis-neuronopathy syndrome|agenesis of corpus callosum with neuronopathy|agenesis of corpus callosum with polyneuropathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|corpus callosum agenesis neuronopathy|Andermann syndrome ICD10:G60.0|OMIM:218000|UMLS:C0795950|GARD:0001537|DOID:0060600|DOID:0090003|Orphanet:1496|SCTID:702439002|MESH:C536446 owl:Class MONDO:0012658 biolink:NamedThing brachydactyly type B2 Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. tmpak2llvmy_mondo_relaxed.owl BDB2|brachydactyly, type B2 DOID:0110975|SCTID:770406002|ICD10:Q73.8|Orphanet:140908|UMLS:C1969652|OMIM:611377 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class MONDO:0001760 biolink:NamedThing photokeratitis Injury to the cornea secondary to ultraviolet light. tmpak2llvmy_mondo_relaxed.owl ultraviolet keratitis ICD9:370.24|DOID:13626|SCTID:1714005|ICD10:H16.13|UMLS:C0155078|NCIT:C118750 owl:Class MONDO:0013397 biolink:NamedThing acne inversa, familial, 2 Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene. tmpak2llvmy_mondo_relaxed.owl familial acne inversa caused by mutation in PSENEN|ACNINV2|PSENEN familial acne inversa|acne inversa, familial, type 2|acne inversa, familial, 2|acne inversa, familial, 2, with or without Dowling-Degos disease OMIM:613736|UMLS:C3151037 owl:Class HGNC:30100 biolink:NamedThing PSENEN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18141 biolink:NamedThing DCDC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003339 biolink:NamedThing ganglion of central nervous system A ganglion that is part of a central nervous system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl central nervous system ganglion|neuraxis ganglion|ganglion of neuraxis owl:Class MONDO:0020525 biolink:NamedThing transient neonatal diabetes mellitus Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. tmpak2llvmy_mondo_relaxed.owl chromosome 6-associated transient diabetes mellitus|diabetes mellitus, transient neonatal|transient neonatal diabetes mellitus|TNDM|transient neonatal diabetes mellitus (disease)|diabetes mellitus, 6q24-related transient neonatal transient neonatal diabetes mellitus (disease) SCTID:237603002|GARD:0001839|DOID:0060334|ICD10:P70.2|NCIT:C114899|Orphanet:99886|HP:0008255 owl:Class MONDO:0012826 biolink:NamedThing scoliosis, isolated, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl scoliosis, isolated, susceptibility to, 4|IS4 OMIM:612238 owl:Class MONDO:0011308 biolink:NamedThing gracile syndrome GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). tmpak2llvmy_mondo_relaxed.owl FLNMS|gracile syndrome|Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Finnish lethal neonatal metabolic syndrome|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Fellman syndrome|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|lactic acidosis, Finnish, with hepatic hemosiderosis|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Fellman disease|Finnish lactic acidosis with hepatic hemosiderosis MESH:C537934|Orphanet:53693|ICD10:E88.8|ICD9:759.89|UMLS:C1864002|GARD:0000001|DOID:0111455|OMIM:603358|SCTID:703388005 owl:Class MONDO:0011125 biolink:NamedThing trichothiodystrophy 1, photosensitive tmpak2llvmy_mondo_relaxed.owl TTD1|trichothiodystrophy, photosensitive|Tay syndrome|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation|trichothiodystrophy 1, photosensitive|PIBIDS syndrome|trichothiodystrophy with congenital ichthyosis OMIM:601675|Orphanet:670 owl:Class HGNC:3434 biolink:NamedThing ERCC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004367 biolink:NamedThing Descemet's membrane A transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea[MP]. tmpak2llvmy_mondo_relaxed.owl posterior limiting lamina|posterior limiting membrane|lamina limitans posterior corneae|lamina limitans posterior|Descemet membrane|Descemet's posterior elastic lamina|posterior limiting lamina of cornea owl:Class MONDO:0001827 biolink:NamedThing white piedra A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. tmpak2llvmy_mondo_relaxed.owl Tinea blanca ICD9:111.2|SCTID:35586003|DOID:13902|ICD10:B36.2|UMLS:C0040249 owl:Class NCBITaxon:5553 biolink:NamedThing Trichosporon beigelii tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013805 biolink:NamedThing intellectual disability, autosomal dominant 13 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 13|mental retardation, autosomal dominant, 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability 13|intellectual disability, autosomal dominant type 13|intellectual disability, autosomal dominant 13, with neuronal migration defects|MRD13|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant 13, with neuronal migration defects|autosomal dominant mental retardation 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 13|mental retardation, autosomal dominant type 13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|autosomal dominant intellectual disability 13 DOID:0070043|OMIM:614563|UMLS:C3281202 owl:Class MONDO:0010827 biolink:NamedThing retinitis pigmentosa 14 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 14|TULP1 retinitis pigmentosa|RP 14|RP14|retinitis pigmentosa 14|retinitis pigmentosa caused by mutation in TULP1 UMLS:C1838603|DOID:0110381|GARD:0010385|ICD10:H35.5|OMIM:600132 https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14 owl:Class MONDO:0005632 biolink:NamedThing acute chest syndrome A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. tmpak2llvmy_mondo_relaxed.owl ACS|acute chest syndrome in sickle cell disease NCIT:C138179|MESH:D056586|EFO:0007129|DOID:1584|UMLS:C0742343|ICD9:517.3|SCTID:372146004 owl:Class GO:0043576 biolink:NamedThing regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004514 biolink:NamedThing chronic rhinitis Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. tmpak2llvmy_mondo_relaxed.owl rhinitis - chronic|rhinitis, chronic UMLS:C0008711|ICD9:472.0|SCTID:86094006|NCIT:C34479|DOID:8252|ICD10:J31.0 owl:Class HP:0002257 biolink:NamedThing Chronic rhinitis Chronic inflammation of the nasal mucosa. tmpak2llvmy_mondo_relaxed.owl UMLS:C0008711|SNOMEDCT_US:86094006 human_phenotype owl:Class MONDO:0001118 biolink:NamedThing Queensland tick typhus A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. tmpak2llvmy_mondo_relaxed.owl Australian tick typhus|Rickettsia australis spotted fever|North Queensland tick typhus UMLS:C2979888|DOID:10784|SCTID:68981009|ICD9:082.3 owl:Class NCBITaxon:65647 biolink:NamedThing Ixodes holocyclus tmpak2llvmy_mondo_relaxed.owl paralysis tick GC_ID:1 ncbi_taxonomy owl:Class HP:0002633 biolink:NamedThing Vasculitis Inflammation of blood vessel. tmpak2llvmy_mondo_relaxed.owl Inflammation of blood vessel|Angiitis MSH:D014657|UMLS:C0042384|SNOMEDCT_US:31996006 human_phenotype owl:Class GO:0019209 biolink:NamedThing kinase activator activity Binds to and increases the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014303 biolink:NamedThing hereditary spastic paraplegia 64 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 64|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1|ENTPD1 autosomal recessive complex spastic paraplegia|SPG64|spastic paraplegia 64, autosomal recessive|autosomal recessive spastic paraplegia type 64|autosomal recessive spastic paraplegia 64 UMLS:C4511960|ICD10:G11.4|Orphanet:401810|SCTID:726609005|OMIM:615683|UMLS:C3810289|DOID:0110815 owl:Class HGNC:3363 biolink:NamedThing ENTPD1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005788 biolink:NamedThing lamina rara interna Layer of the glomerular basement membrane adjacent to the glomerular capillary. tmpak2llvmy_mondo_relaxed.owl lamina interna of glomerular basement membrane|internal layer of glomerular basement membrane owl:Class HGNC:2509 biolink:NamedThing CTNNA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010895 biolink:NamedThing ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). tmpak2llvmy_mondo_relaxed.owl albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCDS|ABCD syndrome|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness UMLS:C1838099|OMIM:600501|UMLS:CN206498|DOID:0050600|MESH:C535334|Orphanet:918 owl:Class CL:0002080 biolink:NamedThing pancreatic centro-acinar cell A cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the acinus. This cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types. tmpak2llvmy_mondo_relaxed.owl centroacinar cell of Langerhans|pancreatic centroacinar cell FMA:62455 tmeehan 2010-06-30T08:49:52Z cell owl:Class CL:1000442 biolink:NamedThing urothelial cell of trigone of urinary bladder An urothelial cell that is part of the trigone of urinary bladder. tmpak2llvmy_mondo_relaxed.owl epithelial cell of vesical trigone FMA:70598 cell owl:Class HGNC:11389 biolink:NamedThing STK11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010506 biolink:NamedThing meningeal dura mater The inner layer of the dura mater surrounding the brain. It is mostly fused with the outer layer, the endocranium that is adherent to the inner aspect of the cranial bones. These two layers form the dura mater. The latter covers and protects the brain and the spinal cord. tmpak2llvmy_mondo_relaxed.owl meningeal layer of dura mater|meningeal dura|inner layer of dura mater owl:Class UBERON:0007592 biolink:NamedThing ciliated columnar epithelium Simple columnar epithelium in which the luminal side of the cells bears cilia. Examples: epithelium of trachea, epithelium of uterine tube.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004792 biolink:NamedThing cancer of isthmus of fallopian tube A cancer that involves the UBERON:0016632. tmpak2llvmy_mondo_relaxed.owl cancer of isthmus of fallopian tube|isthmus of fallopian tube cancer|malignant neoplasm of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm ICD9:182.1|DOID:9459 owl:Class HGNC:886 biolink:NamedThing ATRX tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001713 biolink:NamedThing lower eyelid tmpak2llvmy_mondo_relaxed.owl palpebra inferior|inferior eyelid owl:Class CL:0000178 biolink:NamedThing Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. tmpak2llvmy_mondo_relaxed.owl interstitial cell|interstitial cell of Leydig FMA:72297|CALOHA:TS-1150|EMAPA:29655|BTO:0000755 Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated cell owl:Class OBO:CHR_9606-chr13q biolink:NamedThing chr13q (Human) tmpak2llvmy_mondo_relaxed.owl 114364328 17700000 hg38 owl:Class GO:0043504 biolink:NamedThing mitochondrial DNA repair The process of restoring mitochondrial DNA after damage. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100963 biolink:NamedThing Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. tmpak2llvmy_mondo_relaxed.owl Hyperaesthesia SNOMEDCT_US:14151009|UMLS:C0020453|MSH:D006941 Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. doelkens 2012-01-18T06:11:19Z human_phenotype owl:Class UBERON:0014547 biolink:NamedThing sacral division of spinal cord central canal Part of spinal cord central canal contained in the sacral spinal cord. It is continuous rostrally with the spinal cord central canal of the lumbar cord. tmpak2llvmy_mondo_relaxed.owl sacral spinal cord central canal|lumbosacral spinal cord central canal owl:Class N8e84517c276245a5a7390753e27857de biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0009565 biolink:NamedThing nail of manual digit A nail that is part of a manual digit. tmpak2llvmy_mondo_relaxed.owl finger nail|nail plate of finger|claw of hand|claw of manus|forelimb digit claw|manual claw|nail of finger|fingernail owl:Class MONDO:0000534 biolink:NamedThing trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the trachea. tmpak2llvmy_mondo_relaxed.owl trachea mucoepidermoid carcinoma SCTID:707379000|DOID:0050919|UMLS:C3873401 owl:Class MONDO:0000491 biolink:NamedThing limb ischemia A ischemia that involves the limb. tmpak2llvmy_mondo_relaxed.owl ischemic disease of limb|limb ischemia|limb ischemic disease DOID:0050852|UMLS:C2945695|SCTID:21631000119105 owl:Class MONDO:0012919 biolink:NamedThing type 1 diabetes mellitus 20 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. tmpak2llvmy_mondo_relaxed.owl HNF1A type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in HNF1A|diabetes mellitus, insulin-dependent, 20|IDDM20|diabetes mellitus, insulin-dependent, type 20|insulin-dependent diabetes mellitus 20 MESH:C567286|UMLS:C2675866|DOID:0110757|ICD10:E10|OMIM:612520 owl:Class GO:0003020 biolink:NamedThing detection of reduced oxygen by chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpak2llvmy_mondo_relaxed.owl detection of reduced oxygen by chemoreceptor signalling owl:Class OBO:CHR_9606-chr3p2 biolink:NamedThing chr3p2 (Human) tmpak2llvmy_mondo_relaxed.owl 54400000 0 hg38 owl:Class HGNC:8565 biolink:NamedThing PABPN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012929 biolink:NamedThing Compton-North congenital myopathy tmpak2llvmy_mondo_relaxed.owl MYPCN|congenital lethal myopathy, Compton-North type|myopathy, congenital, Compton-NORTH|Compton-North congenital myopathy Orphanet:210163|UMLS:C2675527|MESH:C567261|DOID:0080101|ICD10:G71.2|OMIM:612540 owl:Class UBERON:0014483 biolink:NamedThing distal phalanx of digit 1 A distal phalanx that is part of a digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl digit I P3|distal phalanx of first digit|distal phalanx of digit I|digit 1 distal phalanx|first distal phalanx owl:Class OBO:CHR_9606-chr6p22 biolink:NamedThing chr6p22 (Human) tmpak2llvmy_mondo_relaxed.owl 30500000 15200000 hg38 owl:Class MONDO:0004265 biolink:NamedThing acute endometritis An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. tmpak2llvmy_mondo_relaxed.owl endometritis, acute SCTID:67667007|UMLS:C0238103|NCIT:C27022|DOID:7528|ICD9:615.0 owl:Class UBERON:0005184 biolink:NamedThing hair medulla Innermost layer of the hair shaft. tmpak2llvmy_mondo_relaxed.owl medulla of hair shaft owl:Class N58c866a8d9744e1f8dc0761bcc403862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N4530084dae334470828261b41549ff83 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014599 biolink:NamedThing intellectual disability, autosomal dominant 34 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene. tmpak2llvmy_mondo_relaxed.owl COL4A3BP autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 34|autosomal dominant non-syndromic intellectual disability 34|mental retardation, autosomal dominant type 34|intellectual disability, autosomal dominant type 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|MRD34|autosomal dominant mental retardation 34|mental retardation, autosomal dominant 34|autosomal dominant intellectual disability 34 OMIM:616351|DOID:0070064 owl:Class HGNC:2205 biolink:NamedThing CERT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003223 biolink:NamedThing meninges hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. tmpak2llvmy_mondo_relaxed.owl hemangiopericytoma of the meninges|meningeal cluster hemangiopericytoma|hemangiopericytoma of meninges|meningeal solitary fibrous tumor/hemangiopericytoma|meningeal cluster spindle cell tumor|meninges hemangiopericytoma|meningeal hemangiopericytoma|hemangiopericytoma of the central nervous system ONCOTREE:HPCCNS|NCIT:C4660|SCTID:277522009|DOID:4957|UMLS:C0349622 owl:Class CHEBI:50629 biolink:NamedThing cyclooxygenase 2 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2. tmpak2llvmy_mondo_relaxed.owl cyclooxygenase 2 inhibitors|cyclooxygenase-2 inhibitors|PGHS-2 inhibitor|prostaglandin H synthase-2 inhibitor|COX-2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitors|COX-2 inhibitor|PGHS-2 inhibitors|cyclo-oxygenase 2 inhibitors|cyclo-oxygenase-2 inhibitors|cyclooxygenase-2 inhibitor|cyclo-oxygenase 2 inhibitor|prostaglandin H synthase-2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitor|cyclo-oxygenase-2 inhibitor owl:Class MONDO:0013243 biolink:NamedThing neuronopathy, distal hereditary motor, type 2C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. tmpak2llvmy_mondo_relaxed.owl HMN 2C|neuropathy, distal hereditary motor, type 2C|HMN2C|HSPB3 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIC|neuronopathy, distal hereditary motor caused by mutation in HSPB3 OMIM:613376|UMLS:C3150619|DOID:0111209 owl:Class UBERON:0006068 biolink:NamedThing bone of tail A bone that is part of a post-anal tail. tmpak2llvmy_mondo_relaxed.owl tail vertebra|tail bone owl:Class GO:0006644 biolink:NamedThing phospholipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. tmpak2llvmy_mondo_relaxed.owl phospholipid metabolism owl:Class MONDO:0003284 biolink:NamedThing mediastinum leiomyoma A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl mediastinum leiomyoma|leiomyoma of the mediastinum|mediastinal leiomyoma|leiomyoma of mediastinum NCIT:C6598|UMLS:C1334659|DOID:5123 owl:Class MONDO:0004810 biolink:NamedThing acute ethmoiditis Acute form of ethmoid sinusitis. tmpak2llvmy_mondo_relaxed.owl acute ethmoid sinusitis|ethmoidal sinus - acute|ethmoid sinusitis, acute|acute ethmoidal sinusitis ICD10:J01.2|ICD9:461.2|UMLS:C0155806|SCTID:67832005|ICD10:J01.20|DOID:9506 owl:Class MONDO:0001709 biolink:NamedThing hypercalcemic sarcoidosis Sarcoidosis with a complication of hypercalcemia. tmpak2llvmy_mondo_relaxed.owl UMLS:C1334067|DOID:13407|NCIT:C35807 owl:Class HP:0003072 biolink:NamedThing Hypercalcemia An abnormally increased calcium concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Increased calcium in blood|High blood calcium levels|Hypercalcaemia UMLS:C0020437|SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|MSH:D006934 human_phenotype owl:Class GO:0006366 biolink:NamedThing transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). tmpak2llvmy_mondo_relaxed.owl transcription from Pol II promoter|transcription from RNA polymerase II promoter|gene-specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|specific transcription from RNA polymerase II promoter|general transcription from RNA polymerase II promoter owl:Class MONDO:0012067 biolink:NamedThing asthma-related traits, susceptibility to, 2 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene. tmpak2llvmy_mondo_relaxed.owl NPSR1 inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in NPSR1|ASRT2|asthma-related traits, susceptibility to, type 2|asthma-related traits, susceptibility to, 2 OMIM:608584|UMLS:C1837811 owl:Class HGNC:23631 biolink:NamedThing NPSR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030682 biolink:NamedThing Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. tmpak2llvmy_mondo_relaxed.owl UMLS:C1960469 human_phenotype owl:Class MONDO:0004583 biolink:NamedThing transient retinal arterial occlusion A partial, temporary occlusion of the retinal artery. tmpak2llvmy_mondo_relaxed.owl retinal transient arterial occlusion|transient arterial retinal occlusion|transient retinal arterial occlusion UMLS:C0154840|SCTID:87224000|DOID:8482|NCIT:C35193|ICD9:362.34|ICD10:H34.0 owl:Class MONDO:0013386 biolink:NamedThing autosomal recessive nonsyndromic deafness 74 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 74|DFNB74|deafness, autosomal recessive 74|deafness, autosomal recessive type 74|MSRB3 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3 UMLS:C2239351|ICD10:H90.3|DOID:0110523|OMIM:613718 owl:Class HGNC:27375 biolink:NamedThing MSRB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014187 biolink:NamedThing aortic aneurysm, familial thoracic 8 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. tmpak2llvmy_mondo_relaxed.owl familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic type 8|PRKG1 familial thoracic aortic aneurysm and aortic dissection|AAT8|aortic aneurysm, familial thoracic 8 UMLS:C3809513|OMIM:615436 owl:Class HGNC:9414 biolink:NamedThing PRKG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013413 biolink:NamedThing retinitis pigmentosa 45 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 45|retinitis pigmentosa 45|CNGB1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in CNGB1|RP45 OMIM:613767|UMLS:C3151066|DOID:0110402|ICD10:H35.5 owl:Class HGNC:2151 biolink:NamedThing CNGB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014217 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 5 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. tmpak2llvmy_mondo_relaxed.owl GDF2 hereditary hemorrhagic telangiectasia|hereditary hemorrhagic telangiectasia caused by mutation in GDF2|telangiectasia, hereditary hemorrhagic, type 5|HHT5 OMIM:615506|UMLS:C3809710 owl:Class HGNC:4217 biolink:NamedThing GDF2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006606 biolink:NamedThing mandibular symphysis A cartilaginous joint that connects left and right mandibles/dentary bones. Mandibular symphysis is unpaired[TAO,modified]. tmpak2llvmy_mondo_relaxed.owl mental symphysis|symphysis menti|inter-dentary joint|dentary symphysis|inter-mandibular joint|symphysis mandibulae owl:Class MONDO:0005187 biolink:NamedThing human herpesvirus 8 infection An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. tmpak2llvmy_mondo_relaxed.owl Human Herpesvirus 8 infection|HHV8 infection|Human Herpes Virus 8 infection UMLS:C1512508|NCIT:C39291|EFO:0002612 owl:Class GO:0098793 biolink:NamedThing presynapse The part of a synapse that is part of the presynaptic cell. tmpak2llvmy_mondo_relaxed.owl presynaptic terminal owl:Class Nc5b9fc4507f24105b4c7a7ec9682b5bc biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:16650 biolink:NamedThing MRPL44 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001016 biolink:NamedThing epididymis cancer A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. tmpak2llvmy_mondo_relaxed.owl malignant epididymal neoplasm|malignant epididymis neoplasm|malignant neoplasm of the epididymis|malignant tumor of the epididymis|malignant tumor of epididymis|malignant neoplasm of epididymis|malignant epididymal tumor|epididymis cancer|cancer of epididymis ICD9:187.5|ICD10:C63.0|UMLS:C0153602|SCTID:363452003|DOID:10366|NCIT:C3558 owl:Class GO:0050767 biolink:NamedThing regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004785 biolink:NamedThing respiratory system mucosa the mucous membrane lining the respiratory tract tmpak2llvmy_mondo_relaxed.owl respiratory system mucosa of organ|respiratory tract mucosa|mucous membrane of apparatus respiratorius|mucosa of apparatus respiratorius|mucosa of respiratory system|apparatus respiratorius mucosa|apparatus respiratorius mucous membrane|respiratory mucosa|respiratory system mucous membrane|laryngeal mucous membrane|mucosa of organ of respiratory system|apparatus respiratorius mucosa of organ|mucous membrane of respiratory system|mucosa of organ of apparatus respiratorius owl:Class MONDO:0008115 biolink:NamedThing Feingold syndrome type 1 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. tmpak2llvmy_mondo_relaxed.owl Feingold syndrome 1|microcephaly and digital abnormalities with normal intelligence|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|MMT type 1|oculo-digito-esophageal-duodenal syndrome type 1|FS1|FGLDS1|Oded syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome|Brunner-Winter syndrome type 1|MYCN Feingold syndrome|Mmt syndrome|Feingold syndrome|MODED syndrome type 1|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|microcephaly-digital anomalies-normal intelligence syndrome type 1|Feingold syndrome type 1|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|Feingold syndrome caused by mutation in MYCN|ODED syndrome type 1|oculodigitoesophagoduodenal syndrome SCTID:702431004|ICD9:759.89|UMLS:CN204984|ICD10:Q87.8|OMIM:164280|Orphanet:391641 owl:Class HGNC:7559 biolink:NamedThing MYCN tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010911 biolink:NamedThing Hyperleucinemia An increased concentration of leucine in the blood. tmpak2llvmy_mondo_relaxed.owl High blood leucine concentration SNOMEDCT_US:24013007|UMLS:C0268576 Normal leucine blood levels are around 120-160 micromole per liter. peter 2010-12-08T08:45:56Z human_phenotype owl:Class MONDO:0011728 biolink:NamedThing blepharospasm Involuntary twitching of the eyelid. tmpak2llvmy_mondo_relaxed.owl benign essential blepharospasm|blepharospasm, benign essential|blepharospasm, benign essential, susceptibility to|BEB SCTID:59026006|DOID:529|ICD10:G24.5|OMIM:606798|MESH:D001764|UMLS:C0005747|GARD:0005909|ICD9:333.81 owl:Class GO:0043020 biolink:NamedThing NADPH oxidase complex A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. tmpak2llvmy_mondo_relaxed.owl respiratory-burst oxidase|flavocytochrome b558 owl:Class MONDO:0013930 biolink:NamedThing peroxisome biogenesis disorder 4A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 4A (Zellweger)|PBD4A|classic peroxisome biogenesis disorder|peroxisome biogenesis disorder, complementation group C|peroxisome biogenesis disorder, complementation group 4|peroxisome biogenesis disorder, complementation group 6 MESH:C563301|OMIM:614862|DOID:0080479|NCIT:C155754|UMLS:C3553936 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class OBI:0100051 biolink:NamedThing specimen A material entity that has the specimen role. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29077 biolink:NamedThing IFT140 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0036501 biolink:NamedThing refractory malignant neoplasm A malignant neoplasm that does not respond to treatment. tmpak2llvmy_mondo_relaxed.owl resistant cancer|clinical resistance|refractory malignant neoplasm|refractory cancer NCIT:C120186|UMLS:C0677936 owl:Class MONDO:0009051 biolink:NamedThing cutaneous photosensitivity-lethal colitis syndrome Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. tmpak2llvmy_mondo_relaxed.owl early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal GARD:0001633|Orphanet:2881|UMLS:C1857449|OMIM:219095|ICD10:L57.8|MESH:C536224 owl:Class UBERON:0001797 biolink:NamedThing vitreous humor A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina tmpak2llvmy_mondo_relaxed.owl humor vitreus|ocular fluid|humoral fluid|portion of vitreous humor|humor vitreous|whole portion of vitreous humor|vitreous fluid|vitreous|vitreous humour owl:Class GO:0097503 biolink:NamedThing sialylation The covalent attachment of sialic acid to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002004 biolink:NamedThing atheroembolism of kidney A cholesterol embolism that involves the kidney. tmpak2llvmy_mondo_relaxed.owl kidney cholesterol embolism|cholesterol embolism of kidney ICD10:I75.81|DOID:1460 owl:Class HGNC:7104 biolink:NamedThing MIPEP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000442 biolink:NamedThing right testicular vein A vein that drains the left pampiniform plexus and empties into the left renal vein. tmpak2llvmy_mondo_relaxed.owl vena testicularis (adrenalis) dextra|vena testicularis sinistra|vena testicularis dextra|right spermatic vein owl:Class MONDO:0010544 biolink:NamedThing cataract 40 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. tmpak2llvmy_mondo_relaxed.owl NHS early-onset non-syndromic cataract|cataract congenital X-linked|CTRCT40|cataract, congenital, X-linked|cataract 40 with or without microcornea|cataract type 40|cataract 40|cataract, congenital total, with posterior sutural opacities in heterozygotes|cataract 40, X-linked|early-onset non-syndromic cataract caused by mutation in NHS|cataract 40 X-linked|cataract, congenital, with microcornea or slight microphthalmia MESH:C535338|DOID:0110272|GARD:0008278|OMIM:302200|ICD10:Q12.0 owl:Class HGNC:7820 biolink:NamedThing NHS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013657 biolink:NamedThing intellectual disability, autosomal dominant 10 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|CACNG2 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 10|autosomal dominant intellectual disability 10|mental retardation, autosomal dominant type 10|intellectual disability, autosomal dominant 10|autosomal dominant non-syndromic intellectual disability 10|mental retardation, autosomal dominant 10|MRD10|autosomal dominant mental retardation 10 DOID:0070040|UMLS:C3280284|OMIM:614256 owl:Class HGNC:1406 biolink:NamedThing CACNG2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2606 biolink:NamedThing CYP27B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003629 biolink:NamedThing uterine corpus serous adenocarcinoma A serous adenocarcinoma that involves the uterine corpus. tmpak2llvmy_mondo_relaxed.owl uterine papillary serous carcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|body of uterus serous adenocarcinoma ONCOTREE:USC|DOID:5750|UMLS:C1336921 owl:Class UBERON:0008344 biolink:NamedThing intestinal villus of ileum An intestinal villus in the ileum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011058 biolink:NamedThing autosomal dominant nonsyndromic deafness 9 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 9|autosomal dominant deafness 9|autosomal dominant nonsyndromic deafness caused by mutation in COCH|DFNA9|COCH autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 9|deafness, autosomal dominant 9 UMLS:C1832425|OMIM:601369|ICD10:H90.3|MESH:C563335|DOID:0110593 owl:Class MONDO:0004333 biolink:NamedThing pancreatic ACTH-producing neuroendocrine tumor A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl pancreatic ACTH producing tumor|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH-producing neuroendocrine tumor|pancreatic ACTH hormone producing tumor|pancreatic ACTH producing neuroendocrine tumor|pancreatic ACTH producing NET DOID:7697|ICDO:8158/1|NCIT:C27466|UMLS:C1335300 owl:Class UBERON:0003321 biolink:NamedThing mesenchyme of knee Mesenchyme that is part of a developing knee [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl knee mesenchyme owl:Class MONDO:0021022 biolink:NamedThing hereditary hyperekplexia Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. tmpak2llvmy_mondo_relaxed.owl hereditary hyperexplexia|Stiff baby syndrome|congenital stiff man syndrome|Kok disease|startle disease|hyperekplexia|hyperexplexia hereditary|familial startle disease|hereditary hyperekplexia SCTID:724351008|OMIMPS:149400|Orphanet:3197|GARD:0003129|ICD10:G25.8|DOID:0060695 owl:Class GO:0042403 biolink:NamedThing thyroid hormone metabolic process The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. tmpak2llvmy_mondo_relaxed.owl thyroid hormone metabolism owl:Class UBERON:0003692 biolink:NamedThing acromioclavicular joint Any joint connecting the acromonion of the scapula and clavicle. tmpak2llvmy_mondo_relaxed.owl acromioclavicular articulation|scapuloclavicular articulation|articulatio acromioclavicularis owl:Class GO:0051460 biolink:NamedThing negative regulation of corticotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpak2llvmy_mondo_relaxed.owl downregulation of adrenocorticotropin secretion|inhibition of adrenocorticotropin secretion|down-regulation of adrenocorticotropin secretion|negative regulation of corticotropic hormone secretion|negative regulation of adrenotropic hormone secretion|negative regulation of adrenotropin secretion|down regulation of adrenocorticotropin secretion|negative regulation of adrenocorticotropin secretion|negative regulation of ACTH secretion|negative regulation of adrenocorticotropic hormone secretion owl:Class HGNC:2023 biolink:NamedThing CLCN5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000766 biolink:NamedThing corneal endothelial dystrophy A corneal dystrophy (disease) that involves the corneal epithelium. tmpak2llvmy_mondo_relaxed.owl endothelial dystrophy|corneal epithelium corneal dystrophy (disease)|corneal dystrophy (disease) of corneal epithelium SCTID:416960004|ICD9:371.57|DOID:0060443 owl:Class MONDO:0015007 biolink:NamedThing spastic paraplegia, intellectual disability, nystagmus, and obesity; tmpak2llvmy_mondo_relaxed.owl SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296|UMLS:C4284592|Orphanet:521390 owl:Class MONDO:0014915 biolink:NamedThing short-rib thoracic dysplasia 16 with or without polydactyly tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly OMIM:617102|UMLS:C4310718 owl:Class MONDO:0023099 biolink:NamedThing FRAXD syndrome tmpak2llvmy_mondo_relaxed.owl FRAXD GARD:0002377 https://rarediseases.info.nih.gov/diseases/2377/fraxd owl:Class N0b34045d1b344ad7a66011a282a91eb7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0002240 biolink:NamedThing marrow fibroblast A fibroblast in the bone marrow. tmpak2llvmy_mondo_relaxed.owl FMA:84377 tmeehan 2010-09-07T02:25:18Z cell owl:Class MONDO:0000675 biolink:NamedThing pain agnosia Loss of the ability to perceive and process pain. tmpak2llvmy_mondo_relaxed.owl analgesia EFO:1001484|DOID:0060145|NCIT:C125664 owl:Class MONDO:0009003 biolink:NamedThing achromatopsia 2 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. tmpak2llvmy_mondo_relaxed.owl colorblindness, total|achromatopsia caused by mutation in CNGA3|Rod monochromatism 2|rod monochromacy 2|CNGA3 achromatopsia|achromatopsia type 2|Rod monochromacy 2|achromatopsia 2|ACHM2|rod monochromatism 2|RMCH2 UMLS:C1857618|OMIM:216900|GARD:0009649|DOID:0110007 https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 owl:Class HGNC:2150 biolink:NamedThing CNGA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004381 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures. tmpak2llvmy_mondo_relaxed.owl pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma|pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia DOID:7851|UMLS:C1518868|NCIT:C41249|SCTID:473418001|ICDO:8453/0 owl:Class PATO:0002132 biolink:NamedThing neoplastic, non-invasive A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1900119 biolink:NamedThing positive regulation of execution phase of apoptosis Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. tmpak2llvmy_mondo_relaxed.owl up-regulation of execution phase of apoptosis|up regulation of execution phase of apoptosis|upregulation of execution phase of apoptosis|activation of execution phase of apoptosis owl:Class GO:0097194 biolink:NamedThing execution phase of apoptosis A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpak2llvmy_mondo_relaxed.owl execution phase of apoptotic process|apoptosis owl:Class MONDO:0015180 biolink:NamedThing intestinal disease due to fat malabsorption tmpak2llvmy_mondo_relaxed.owl UMLS:CN197522|Orphanet:104005 owl:Class HP:0002630 biolink:NamedThing Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl UMLS:C0554103|SNOMEDCT_US:197494007 human_phenotype owl:Class HGNC:12405 biolink:NamedThing TTR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045828 biolink:NamedThing positive regulation of isoprenoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpak2llvmy_mondo_relaxed.owl activation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|stimulation of isoprenoid metabolic process|upregulation of isoprenoid metabolic process owl:Class UBERON:0001884 biolink:NamedThing phrenic nerve A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium. tmpak2llvmy_mondo_relaxed.owl nervus phrenicus|diaphragmatic nerve|phrenic owl:Class UBERON:0011818 biolink:NamedThing superficial fascia Superficial fascia is found in the subcutis in most regions of the body, blending with the reticular layer of the dermis. It is present on the face, over the upper portion of the sternocleidomastoid, at the nape of the neck, and overlying the sternum. It is comprised mainly of loose areolar connective tissue and adipose and is the layer that primarily determines the shape of a body. In addition to its subcutaneous presence, this type of fascia surrounds organs and glands, neurovascular bundles, and is found at many other locations where it fills otherwise unoccupied space. It serves as a storage medium of fat and water; as a passageway for lymph, nerve and blood vessels; and as a protective padding to cushion and insulate. Superficial fascia is present, but does not contain fat, in the eyelids, ear, scrotum, penis and clitoris. tmpak2llvmy_mondo_relaxed.owl tela subcutanea|superficial fascial layer|subcutaneous tissue owl:Class MONDO:0021580 biolink:NamedThing neoplasm of jaw A neoplasm (disease) that involves the jaw skeleton. tmpak2llvmy_mondo_relaxed.owl jaw skeleton tumor|jaw skeleton neoplasm|jaw skeleton neoplasm (disease)|neoplasm of jaw skeleton|tumor of jaw skeleton SCTID:126634001|ICD9:239.89 owl:Class GO:0006624 biolink:NamedThing vacuolar protein processing Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. tmpak2llvmy_mondo_relaxed.owl vacuolar proteolysis|vacuolar protein maturation owl:Class MONDO:0018535 biolink:NamedThing biliary cystadenocarcinoma A cystadenocarcinoma that involves the biliary tree. tmpak2llvmy_mondo_relaxed.owl intrahepatic bile duct cystadenocarcinoma ICD10:C22.1|Orphanet:424982|UMLS:C2064409 owl:Class CL:2000063 biolink:NamedThing ovarian fibroblast Any fibroblast that is part of a female gonad. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7330 TermGenie 2014-10-07T17:57:42Z cell owl:Class MONDO:0009441 biolink:NamedThing autosomal recessive congenital ichthyosis 1 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. tmpak2llvmy_mondo_relaxed.owl ichthyosis, lamellar, 1|ichthyosis congenita 2|ichthyosis, lamellar, 1, formerly|ARCI1|ichthyosis lamellar 1|LI1|collodion baby, self-healing|ichthyosis congenita|bathing suit ichthyosis|autosomal recessive congenital ichthyosis type 1|lamellar exfoliation of newborn|desquamation of newborn|collodion fetus|ichthyosis, congenital, autosomal recessive 1|autosomal recessive congenital ichthyosis 1|lamellar ichthyosis, type 1|ichthyosis, congenital, autosomal recessive type 1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution OMIM:242300|GARD:0003170|ICD10:Q80.2|DOID:0060656|UMLS:C3536797|MESH:D017490 https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 owl:Class GO:0001843 biolink:NamedThing neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048261 biolink:NamedThing negative regulation of receptor-mediated endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpak2llvmy_mondo_relaxed.owl negative regulation of receptor mediated endocytosis|down-regulation of receptor mediated endocytosis|downregulation of receptor mediated endocytosis|inhibition of receptor mediated endocytosis|down regulation of receptor mediated endocytosis owl:Class GO:0006898 biolink:NamedThing receptor-mediated endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. tmpak2llvmy_mondo_relaxed.owl receptor mediated endocytosis owl:Class UBERON:0009580 biolink:NamedThing diencephalon mantle layer tmpak2llvmy_mondo_relaxed.owl mantle layer lateral wall diencephalon|diencephalon lateral wall mantle layer owl:Class UBERON:0034996 biolink:NamedThing outer renal medulla loop of Henle tmpak2llvmy_mondo_relaxed.owl loop of Henle, outer medullary portion owl:Class MONDO:0011455 biolink:NamedThing lissencephaly, familial, with cleft palate and cerebellar hypoplasia tmpak2llvmy_mondo_relaxed.owl lissencephaly, familial, with cleft palate and cerebellar hypoplasia UMLS:C1858419|OMIM:604382|MESH:C565781 owl:Class MONDO:0016600 biolink:NamedThing acute neonatal citrullinemia type I Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. tmpak2llvmy_mondo_relaxed.owl acute neonatal citrullinemia type 1|classic citrullinemia type 1|classic citrullinemia type I Orphanet:247546|ICD10:E72.2|UMLS:CN201793 owl:Class CL:0000094 biolink:NamedThing granulocyte A leukocyte with abundant granules in the cytoplasm. tmpak2llvmy_mondo_relaxed.owl granular leukocyte|polymorphonuclear leukocyte|granular leucocyte BTO:0001026|FMA:62854|BTO:0000539|CALOHA:TS-0422 cell owl:Class MONDO:0009356 biolink:NamedThing autosomal recessive humeroradial synostosis Autosomal recessive form of humeroradial synostosis (disease). tmpak2llvmy_mondo_relaxed.owl humeroradial/multiple synostosis syndrome|humeroradial synostosis|humeroradial synostosis (disease), autosomal recessive|autosomal recessive humeroradial synostosis (disease) OMIM:236400 owl:Class UBERON:0004848 biolink:NamedThing respiratory system arterial endothelium An endothelium of artery that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arterial endothelium of apparatus respiratorius|artery endothelium of respiratory system|apparatus respiratorius endothelium of artery|endothelium of artery of respiratory system|apparatus respiratorius artery endothelium|endothelium of artery of apparatus respiratorius|respiratory system endothelium of artery|respiratory system artery endothelium|apparatus respiratorius arterial endothelium|arterial endothelium of respiratory system|artery endothelium of apparatus respiratorius owl:Class CHEBI:47868 biolink:NamedThing photosensitizing agent A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. tmpak2llvmy_mondo_relaxed.owl photosensitising agent owl:Class UBERON:0003403 biolink:NamedThing skin of forearm A zone of skin that is part of a lower arm [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower arm skin|skin of lower segment of arm|skin of antebrachial region|forearm skin|skin of lower arm|lower segment of arm skin|skin of zeugopod of arm owl:Class GO:0061626 biolink:NamedThing pharyngeal arch artery morphogenesis The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl aortic arch artery morphogenesis owl:Class MONDO:0010389 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 34|X-linked MSMD due to CYBB deficiency|atypical Mycobacteriosis, familial, X-linked 2|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|CYBB X-linked mendelian susceptibility to mycobacterial diseases|immunodeficiency 34, Mycobacteriosis, X-linked|immunodeficiency 34|IMD34 MESH:C567068|Orphanet:319623|ICD10:D84.8|UMLS:C1970859|OMIM:300645 owl:Class MONDO:0012106 biolink:NamedThing microcephaly 5, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in ASPM|MCPH5|ASPM autosomal recessive primary microcephaly|microcephaly 5, primary, autosomal recessive OMIM:608716|DOID:0070280|UMLS:C1837501|MESH:C563871 owl:Class MONDO:0013728 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 2 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene. tmpak2llvmy_mondo_relaxed.owl pregnancy loss, recurrent, susceptibility caused by mutation in F2|F2 pregnancy loss, recurrent, susceptibility|RPRGL2|pregnancy loss, recurrent, susceptibility to, type 2|pregnancy loss, recurrent, susceptibility to, 2 OMIM:614390 owl:Class CHEBI:28112 biolink:NamedThing nickel atom Chemical element (nickel group element atom) with atomic number 28. tmpak2llvmy_mondo_relaxed.owl niccolum|Ni|nickel|niquel|Raney alloy|28Ni|Nickel owl:Class MONDO:0013253 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 3 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to familial breast-ovarian cancer 3|BROVCA3|ovarian cancer, familial, susceptibility to, 3|Rad51C hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, 3|breast cancer, familial, susceptibility to, 3|breast-ovarian cancer, familial, susceptibility to, type 3|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|RAD51C hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C OMIM:613399 owl:Class HGNC:8149 biolink:NamedThing OPLAH tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000339 biolink:NamedThing piece of rock An abiotic mesoscopic feature made of the mineral material of the crust of the Earth. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000883 biolink:NamedThing area of developed open space An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000248 biolink:NamedThing dense settlement biome A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005875 biolink:NamedThing 4th arch pharyngeal cleft A groove that is situated between the 4th and 5th pharyngeal arch. tmpak2llvmy_mondo_relaxed.owl branchial groove of 4th arch|4th arch branchial groove|4th branchial cleft|4th pharyngeal groove ectoderm|4th pharyngeal cleft|4th pharyngeal groove|4th arch pharyngeal groove ectoderm owl:Class Ne61cbfc5ec7b498aaa0cd48920bc7fc1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012975 biolink:NamedThing autosomal dominant nonsyndromic deafness 3B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpak2llvmy_mondo_relaxed.owl DFNA3B|deafness, autosomal dominant type 3B|GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 3B|autosomal dominant deafness 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal dominant 3B UMLS:C2675237|DOID:0110565|ICD10:H90.3|MESH:C567215|OMIM:612643 owl:Class MONDO:0008955 biolink:NamedThing cerebrooculofacioskeletal syndrome 1 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpak2llvmy_mondo_relaxed.owl ERCC6 COFS syndrome|cerebrooculofacioskeletal syndrome 1|Pena-Shokeir syndrome, type 2|cerebrooculofacioskeletal syndrome type 1|COFS syndrome caused by mutation in ERCC6|COFS syndrome|COFS1 OMIM:214150 owl:Class CHEBI:42724 biolink:NamedThing (R)-amphetamine A 1-phenylpropan-2-amine that has R configuration. tmpak2llvmy_mondo_relaxed.owl (R)-alpha-methylbenzeneethanamine|(R)-alpha-methylphenethylamine|(R)-amphetamine|(2R)-1-phenylpropan-2-amine|levamfetamine|levamphetamine|(-)-amphetamine|(-)-phenylisopropylamine owl:Class HP:0007773 biolink:NamedThing Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. tmpak2llvmy_mondo_relaxed.owl Vitreoretinal abnormality|Vitreoretinal degeneration UMLS:C1850109 HP:0000655 human_phenotype owl:Class MONDO:0018207 biolink:NamedThing 2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. tmpak2llvmy_mondo_relaxed.owl Del(2)(p13.2) Orphanet:363680|ICD10:Q93.5|UMLS:CN204723 owl:Class MONDO:0013796 biolink:NamedThing chromosome 17q12 duplication syndrome 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. tmpak2llvmy_mondo_relaxed.owl dup(17)(q12)|17q12 duplication|recurrent duplication of 17q12|chromosome 17q12 duplication syndrome|17q12 microduplication syndrome|trisomy 17q12|17q12 microduplication UMLS:C3281137|ICD10:Q92.3|SCTID:764435003|GARD:0013296|OMIM:614526|DOID:0060433|Orphanet:261272 owl:Class ECTO:0000526 biolink:NamedThing exposure to neurotransmitter An exposure to neurotransmitter. tmpak2llvmy_mondo_relaxed.owl exposure to neurotransmitter owl:Class UBERON:0001268 biolink:NamedThing peritoneal fluid Transudate contained in the peritoneal cavity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014531 biolink:NamedThing amyotrophic lateral sclerosis type 22 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. tmpak2llvmy_mondo_relaxed.owl ALS22|amyotrophic lateral sclerosis type 22|amyotrophic lateral sclerosis 22|amyotrophic lateral sclerosis caused by mutation in TUBA4A|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|TUBA4A amyotrophic lateral sclerosis|ALS 22 DOID:0060355|OMIM:616208|UMLS:C4015512 owl:Class HGNC:12407 biolink:NamedThing TUBA4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007240 biolink:NamedThing progressive familial heart block, type 1A An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. tmpak2llvmy_mondo_relaxed.owl progressive familial heart block caused by mutation in SCN5A|PFHB1A|heart block, nonprogressive|Lenegre disease|progressive familial heart block type IA|Lenegre's syndrome|heart block progressive familial type 1|Lenegre's disease|Cardiac conduction defect, progressive|hereditary bundle branch system defect|Cardiac conduction defect, nonprogressive|Lev disease|Lenegre-Lev disease|SCN5A progressive familial heart block|progressive familial heart block, type IA|heart block, progressive familial, type 1|progressive familial heart block type 1A NCIT:C126651|MESH:D002037|DOID:0111074|GARD:0001093|OMIM:113900|EFO:0004138 Editor note: consider separating aquired and inherited owl:Class HGNC:3680 biolink:NamedThing FGF23 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001620 biolink:NamedThing louse-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. tmpak2llvmy_mondo_relaxed.owl Relapsing fever, louse-borne ICD10:A68.0|ICD9:087.0|DOID:13035|NCIT:C128426|UMLS:C0152061|SCTID:14683004 owl:Class MONDO:0013120 biolink:NamedThing 46,XY sex reversal 5 tmpak2llvmy_mondo_relaxed.owl disorder of Sex development, 46,XY, Cbx2-related|46,XY sex reversal 5|46,XY Sex reversal, Cbx2-related|46,XY Sex reversal type 5|SRXY5|46,XY SEX reversal 5|Sex reversal, XY, Cbx2-related|46,XY gonadal dysgenesis, complete, Cbx2-related UMLS:C2751317|MESH:C567766|DOID:0111776|OMIM:613080 owl:Class HGNC:1552 biolink:NamedThing CBX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009658 biolink:NamedThing Sanfilippo syndrome type D A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. tmpak2llvmy_mondo_relaxed.owl glucosamine N-acetyl-6-sulfatase deficiency|MPS IIID|N-acetylglucosamine-6-sulfate sulfatase deficiency|GNS deficiency|mucopolysaccharidosis type 3D|MPS3D|N-acetylglucosamine-6-sulfatase deficiency|Sanfilippo syndrome type D|Mucopoly-saccharidosis type 3D|MPS 3D|Sanfilippo D|MPSIIID|MPS III D|mucopolysaccharidosis, type 3D|Sanfilippo syndrome D|mucopolysaccharidosis type IIID|mucopolysaccharidosis, type IIID OMIM:252940|UMLS:C0086650|NCIT:C84900|ICD10:E76.2|GARD:0007074|Orphanet:79272|DOID:0111402|SCTID:15892005 owl:Class HGNC:4422 biolink:NamedThing GNS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022358 biolink:NamedThing placenta blood vessel A blood vessel of the placenta. tmpak2llvmy_mondo_relaxed.owl placental vessel owl:Class CHEBI:18291 biolink:NamedThing manganese atom tmpak2llvmy_mondo_relaxed.owl manganese|25Mn|Mangan|manganum|Mn|manganeso|Manganese owl:Class GO:1901192 biolink:NamedThing positive regulation of formation of translation initiation ternary complex Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. tmpak2llvmy_mondo_relaxed.owl up-regulation of translation initiation ternary complex assembly|up regulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex|activation of translation initiation ternary complex assembly|positive regulation of translation initiation ternary complex assembly|upregulation of translation initiation ternary complex assembly|up regulation of formation of translation initiation ternary complex|upregulation of formation of translation initiation ternary complex|up-regulation of formation of translation initiation ternary complex owl:Class GO:0001677 biolink:NamedThing formation of translation initiation ternary complex Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). tmpak2llvmy_mondo_relaxed.owl translation initiation ternary complex assembly owl:Class UBERON:0002786 biolink:NamedThing root of abducens nerve Nerve fibers arising from motor neurons in the abducens nucleus that are contained within the pontine tegmentum tmpak2llvmy_mondo_relaxed.owl abducens nerve tract|root of abducens nerve|abducens nerve/root|fibrae nervi abducentis|central part of abducens nerve|abducens nerve fibers|abducens nerve root owl:Class MONDO:0009242 biolink:NamedThing brittle cornea syndrome Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. tmpak2llvmy_mondo_relaxed.owl EDS VIB (formerly)|brittle cornea syndrome|brittle cornea syndrome 1|brittle cornea syndrome type 1|brittle cornea syndrome 2|BCS1|type VIB Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type 6B (formerly)|kyphoscoliosis type|Ehlers-Danlos syndrome type 6b DOID:14775|OMIMPS:229200|ICD10:Q79.6|GARD:0001019|Orphanet:90354|SCTID:719096006 https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome owl:Class HGNC:7448 biolink:NamedThing MTM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013303 biolink:NamedThing autoimmune disease, susceptibility to, 6 Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. tmpak2llvmy_mondo_relaxed.owl susceptibility to autoimmune disease 6|SIAE autoimmune disease|autoimmune disease, susceptibility to, 6|autoimmune disease caused by mutation in SIAE|AIS6|autoimmune disease, susceptibility to, type 6 OMIM:613551 owl:Class MONDO:0018626 biolink:NamedThing paratyphoid fever A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. tmpak2llvmy_mondo_relaxed.owl paratyphoid b|paratyphoid fever A|paratyphoid a|paratyphoid fever B|paratyphoid A fever|paratyphoid B fever|paratyphoid fever C|paratyphoid c|paratyphoid C fever|paratyphoid UMLS:C0343376|ICD9:002.3|ICD9:002.1|ICD10:A01.2|NCIT:C34897|Orphanet:443227|ICD10:A01.1|SCTID:51254007|UMLS:C0030528|ICD10:A01.4|ICD10:A01.3|EFO:0007420|UMLS:C0343377|ICD9:002.9|UMLS:C0343375|ICD9:002.2|MESH:D010284|DOID:3055 owl:Class HP:0001662 biolink:NamedThing Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). tmpak2llvmy_mondo_relaxed.owl Slow heartbeats|Brachycardia UMLS:C0428977|SNOMEDCT_US:48867003|MSH:D001919 human_phenotype owl:Class MONDO:0009414 biolink:NamedThing glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. tmpak2llvmy_mondo_relaxed.owl glycogenosis type 0a|GSD 0A|glycogen storage disease type 0, liver|glycogen storage disease type 0a|glycogen storage disease type 0|liver glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of liver|glycogen storage disease 0, liver|glycogen storage disease due to liver glycogen synthase deficiency|hepatic glycogen synthase deficiency|GSD0A|hypoglycemia with deficiency of glycogen synthetase in the liver|liver glycogen synthase deficiency|GSD due to hepatic glycogen synthase deficiency|GSD type 0a|liver GSD 0|liver glycogen storage disease 0|glycogen synthase deficiency|glycogen storage disease due to hepatic glycogen synthase deficiency UMLS:C0342748|MESH:C565485|GARD:0002889|UMLS:C1855861|Orphanet:2089|ICD10:E74.0|SCTID:237964009|GARD:0002513|OMIM:240600 owl:Class HGNC:4707 biolink:NamedThing GYS2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0025278 biolink:NamedThing Cold-induced sweating Sweating provoked by cold temperature rather than by heat. tmpak2llvmy_mondo_relaxed.owl 2016-12-18 15:16:15+00:00 HPO:probinson human_phenotype owl:Class UBERON:0008000 biolink:NamedThing sesamoid bone of pes A sesamoid bone that is part of a pes. tmpak2llvmy_mondo_relaxed.owl sesamoid bone of foot owl:Class MONDO:0014364 biolink:NamedThing mitochondrial complex III deficiency nuclear type 8 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. tmpak2llvmy_mondo_relaxed.owl MC3DN8|mitochondrial complex III deficiency nuclear type 8|mitochondrial complex III deficiency, nuclear type 8|mitochondrial complex III deficiency caused by mutation in LYRM7|LYRM7 mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 8 OMIM:615838|DOID:0080117|UMLS:C4014440 owl:Class HGNC:28072 biolink:NamedThing LYRM7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012356 biolink:NamedThing pedal acropodium region The segment of the pes that is distal to the metatarsal region and consists of the pedal digits (toes). tmpak2llvmy_mondo_relaxed.owl toes|acropodial forelimb segment|set of toes|acropodial segment of pes|digits of foot|all toes|acropodial region of pes|pedal acropodium region|toes set owl:Class MONDO:0024534 biolink:NamedThing Dowling-Degos disease 1 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene. tmpak2llvmy_mondo_relaxed.owl Dowling-Degos disease 1|DDD1|reticular pigment anomaly of flexures|KRT5 Dowling-Degos disease|Dowling-Degos disease caused by mutation in KRT5|DDD OMIM:179850|UMLS:C3714534 owl:Class UBERON:0003511 biolink:NamedThing iris blood vessel A blood vessel that is part of a iris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of iris owl:Class UBERON:0001415 biolink:NamedThing skin of pelvis A zone of skin that is part of a pelvis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pelvis skin|pelvic skin|zone of skin of pelvis|pelvis zone of skin owl:Class MONDO:0012490 biolink:NamedThing cone-rod synaptic disorder, congenital nonprogressive tmpak2llvmy_mondo_relaxed.owl night blindness, congenital stationary, incomplete, autosomal recessive, formerly|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, type 2B|CRSD|night blindness, congenital stationary, incomplete, autosomal recessive|cone-rod synaptic disorder, congenital nonprogressive UMLS:C1864877|OMIM:610427 owl:Class UBERON:0012125 biolink:NamedThing dermatological-muscosal system Anatomical system that consists of the integumental system plus all mucosae and submucosae. tmpak2llvmy_mondo_relaxed.owl dermatological system owl:Class MONDO:0001816 biolink:NamedThing scleroperikeratitis tmpak2llvmy_mondo_relaxed.owl scleritis with corneal involvement ICD9:379.05|DOID:13861|ICD10:H15.04|SCTID:42574005|UMLS:C0155355 owl:Class OBO:CHR_9606-chr9p1 biolink:NamedThing chr9p1 (Human) tmpak2llvmy_mondo_relaxed.owl 43000000 33200000 hg38 owl:Class GO:0060374 biolink:NamedThing mast cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009303 biolink:NamedThing anti-glomerular basement membrane disease An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. tmpak2llvmy_mondo_relaxed.owl anti-GBM syndrome|pulmonary renal syndrome|glomerulonephritis - pulmonary hemorrhage|Goodpasture syndrome|anti-glomerular basement membrane antibody disease|anti-glomerular basement membrane disease|rapidly progressive glomerulonephritis with pulmonary hemorrhage ICD10:N08.5*|Orphanet:375|UMLS:C0403529|MESH:D019867|ICD10:M31.0|MedDRA:10018620|SCTID:236432001|ICD10:M31.0+|GARD:0002551|EFO:0007290|OMIM:233450|NCIT:C84566|DOID:9808|ICD9:446.21 https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome owl:Class CL:1000428 biolink:NamedThing stem cell of epidermis A somatic stem cell that is part of the epidermis. tmpak2llvmy_mondo_relaxed.owl epidermal stem cell FMA:70541 cell owl:Class MONDO:0000945 biolink:NamedThing venous insufficiency Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. tmpak2llvmy_mondo_relaxed.owl venous insufficiency|peripheral venous insufficiency|venous insufficiency (disease) venous insufficiency (disease) UMLS:C0042485|MESH:D014689|DOID:10128|SCTID:20696009|HP:0005293|ICD9:459.81 owl:Class MONDO:0033682 biolink:NamedThing skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:508533 owl:Class HGNC:3518 biolink:NamedThing EXTL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012382 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 4 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|hyperinsulinemic hypoglycemia, familial, 4|HADH hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia, familial, type 4|HHF4|hyperinsulinemic hypoglycemia due to HADH deficiency|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency OMIM:609975|UMLS:C1864948|DOID:0070215|SCTID:721236002|UMLS:C4303473|MESH:C566493 owl:Class HGNC:4799 biolink:NamedThing HADH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2976 biolink:NamedThing DNMT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17877 biolink:NamedThing NMNAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011980 biolink:NamedThing crurotarsal joint A joint that connects the bones of the crus to the proximal tarsal bones tmpak2llvmy_mondo_relaxed.owl crurotarsal owl:Class UBERON:0010224 biolink:NamedThing right pupil A pupil that is part of a right eye. tmpak2llvmy_mondo_relaxed.owl pupil of right eye owl:Class CHEBI:16827 biolink:NamedThing corticosterone A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands. tmpak2llvmy_mondo_relaxed.owl Reichstein's substance H|Kendall's compound B|CORTICOSTERONE|corticosterone|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|11beta,21-dihydroxyprogesterone|17-deoxycortisol|Corticosterone|11beta,21-dihydroxypregn-4-ene-3,20-dione|11beta,21-Dihydroxy-4-pregnene-3,20-dione owl:Class MONDO:0012512 biolink:NamedThing fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl TSFM combined oxidative phosphorylation deficiency|concentric cardiomyopathy, hypotonia, and lactic acidosis|COXPD3|combined oxidative phosphorylation deficiency type 3|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency 3|fatal mitochondrial disease due to COXPD3|combined oxidative phosphorylation deficiency caused by mutation in TSFM ICD10:E88.8|OMIM:610505|Orphanet:168566|MESH:C566467|DOID:0111486|SCTID:720951008 owl:Class HGNC:12367 biolink:NamedThing TSFM tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008434 biolink:NamedThing cervical vertebral arch A neural arch that is part of a cervical vertebra. tmpak2llvmy_mondo_relaxed.owl arch of cervical vertebra owl:Class MONDO:0014022 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10|muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|MDDGA10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related|RXYLT1 muscular dystrophy-dystroglycanopathy, type A DOID:0111239|OMIM:615041|UMLS:C3554381 owl:Class OBO:CHR_9606-chr5q22 biolink:NamedThing chr5q22 (Human) tmpak2llvmy_mondo_relaxed.owl 115900000 110200000 hg38 owl:Class HGNC:8761 biolink:NamedThing PDCD10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014321 biolink:NamedThing premature ovarian failure 8 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. tmpak2llvmy_mondo_relaxed.owl primary ovarian failure caused by mutation in STAG3|POF8|STAG3 primary ovarian failure|premature ovarian failure type 8|premature ovarian failure 8 UMLS:C3810367|OMIM:615723 owl:Class HGNC:11356 biolink:NamedThing STAG3 tmpak2llvmy_mondo_relaxed.owl owl:Class N5a06cceb9311479fb511efc95823e62b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0043771 biolink:NamedThing radiodermatitis A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. tmpak2llvmy_mondo_relaxed.owl radiation recall reaction|reaction, radiation recall|Dermatitides, radiation recall|radiation dermatitis|dermatitis radiation|dermatitis, radiation-induced|radiation induced dermatitis|radiation recall Dermatitides|Radiodermatitides|recall reactions, radiation|radiation-induced dermatitis|radiation-induced Dermatitides|radiation recall dermatitis|recall reaction, radiation|dermatitis, radiation recall|dermatitis, radiation induced|radiodermatitis|radiation recall reactions|Dermatitides, radiation-induced|reactions, radiation recall SCTID:49084001|NCIT:C3349|MESH:D011855|EFO:1001840 owl:Class MONDO:0004705 biolink:NamedThing liver solitary fibrous tumor A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. tmpak2llvmy_mondo_relaxed.owl liver localized fibrous mesothelioma|liver localized fibrous tumor|liver fibroma|hepatic fibroma|liver solitary fibrous tumor|fibroma of liver|fibroma of the liver UMLS:C1333965|NCIT:C5752|DOID:907 owl:Class MONDO:0023693 biolink:NamedThing maple syrup urine disease type 2 A maple syrup urine disease caused by mutations in DBT. tmpak2llvmy_mondo_relaxed.owl MSUD type 2|maple syrup urine disease type 2|MSUD2 HGNC:2698|GARD:0008596 https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 owl:Class HGNC:2698 biolink:NamedThing DBT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011762 biolink:NamedThing autosomal recessive nonsyndromic deafness 22 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. tmpak2llvmy_mondo_relaxed.owl DFNB22|autosomal recessive deafness 22|autosomal recessive nonsyndromic deafness 22|deafness, autosomal recessive type 22|OTOA autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 22|autosomal recessive nonsyndromic deafness caused by mutation in OTOA|deafness, autosomal recessive 22 ICD10:H90.3|OMIM:607039|MESH:C564633|DOID:0110480|UMLS:C1846896 owl:Class GO:0004674 biolink:NamedThing protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. tmpak2llvmy_mondo_relaxed.owl protein-serine kinase activity|threonine-specific protein kinase activity|serine(threonine) protein kinase activity|serine kinase activity|serine/threonine protein kinase activity|protein phosphokinase activity|protein kinase (phosphorylating) activity|protein serine kinase activity|serine protein kinase activity|serine-specific protein kinase activity|protein serine-threonine kinase activity owl:Class GO:2000828 biolink:NamedThing regulation of parathyroid hormone secretion Any process that modulates the frequency, rate or extent of parathyroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl regulation of PTH secretion|regulation of parathyrin secretion|regulation of parathormone secretion owl:Class MONDO:0011816 biolink:NamedThing lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. tmpak2llvmy_mondo_relaxed.owl sterol C5-desaturase deficiency|lathosterolosis|Sc5D deficiency OMIM:607330|MESH:C537880|SCTID:719257008|GARD:0009711|UMLS:C1846421|Orphanet:46059|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis owl:Class GO:0033490 biolink:NamedThing cholesterol biosynthetic process via lathosterol The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. tmpak2llvmy_mondo_relaxed.owl cholesterol anabolism via lathosterol|cholesterol biosynthesis via lathosterol|cholesterol formation via lathosterol|cholesterol synthesis via lathosterol owl:Class UBERON:2001073 biolink:NamedThing axial vasculature tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019345 biolink:NamedThing shigellosis Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. tmpak2llvmy_mondo_relaxed.owl flexner's dysentery|bacillary dysentery|japanese dysentery|shigellosis|Shigella sonnei infectious disease|Shigella gastroenteritis|Shigella flexneri infectious disease|Shigella boydii infectious disease|Shigella dysentery ICD10:A03.0|ICD9:004.0|ICD9:004|ICD9:004.9|ICD10:A03.9|ICD10:A03.3|MedDRA:10017915|ICD10:A03.8|MedDRA:10054178|MESH:D004405|DOID:12385|ICD9:004.2|Orphanet:810|KEGG:05131|GARD:0004818|ICD10:A03.1|ICD10:A03|ICD10:A03.2|SCTID:36188001|EFO:0005585|ICD9:004.3|ICD9:004.1 https://rarediseases.info.nih.gov/diseases/4818/shigellosis owl:Class UBERON:0005837 biolink:NamedThing fasciculus of spinal cord A fascicle that is part of a spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord fasciculus owl:Class ENVO:01000993 biolink:NamedThing manufacturing process A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00003074 biolink:NamedThing manufactured product A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. tmpak2llvmy_mondo_relaxed.owl manufactured good owl:Class OBO:CP_0000028 biolink:NamedThing basophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. tmpak2llvmy_mondo_relaxed.owl tmeehan 2009-12-22T04:24:54Z cell owl:Class PATO:0002094 biolink:NamedThing basophilic An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011919 biolink:NamedThing yolk sac blood island masses of developing blood cells attached to endothelium in the yolk sac tmpak2llvmy_mondo_relaxed.owl yolk sac blood islands|visceral yolk sac blood island owl:Class MONDO:0024608 biolink:NamedThing dientamoebiasis Gastrointestinal infection with organisms of the genus dientamoeba. tmpak2llvmy_mondo_relaxed.owl Dientamoeba caused disease or disorder|intestinal trichomoniasis|Dientamoeba disease or disorder|Dientamoebiases|Dientamoeba infectious disease DOID:946|SCTID:67915005|MESH:D004030 owl:Class NCBITaxon:43351 biolink:NamedThing Dientamoeba tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054581 biolink:NamedThing Townes-Brocks syndrome 1 tmpak2llvmy_mondo_relaxed.owl deafness, sensorineural, with imperforate anus and thumb anomalies|TBS1|Townes-Brocks-branchiootorenal-like syndrome|anus, imperforate, with hand, Foot, and Ear anomalies|Townes-Brocks syndrome 1|renal-ear-anal-radial syndrome|rear syndrome OMIM:107480 owl:Class HGNC:10524 biolink:NamedThing SALL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012507 biolink:NamedThing retinal cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. tmpak2llvmy_mondo_relaxed.owl cone dystrophy caused by mutation in CACNA2D4|CACNA2D4 cone dystrophy|RCD4|retinal cone dystrophy 4|retinal cone dystrophy type 4 UMLS:C1864849|MESH:C566470|OMIM:610478|GARD:0010650 https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4 owl:Class HGNC:20202 biolink:NamedThing CACNA2D4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004539 biolink:NamedThing right kidney A kidney that is part of a right side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4026 biolink:NamedThing FXYD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014550 biolink:NamedThing long QT syndrome 15 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 15|LQT15|long QT syndrome 15|long QT syndrome caused by mutation in CALM2|CALM2 long QT syndrome OMIM:616249|ICD10:I45.8|DOID:0110656|UMLS:C4015695 owl:Class HGNC:1445 biolink:NamedThing CALM2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:574145 biolink:NamedThing Demodex brevis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class N6b64a804a30a4eb9954427f696450db4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0006645 biolink:NamedThing adventitia of epididymis An adventitia that is part of a epididymis. tmpak2llvmy_mondo_relaxed.owl epididymis adventitia owl:Class GO:1902113 biolink:NamedThing nucleotide phosphorylation involved in DNA repair Any nucleotide phosphorylation that is involved in DNA repair. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006281 biolink:NamedThing DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35623 biolink:NamedThing anticonvulsant A drug used to prevent seizures or reduce their severity. tmpak2llvmy_mondo_relaxed.owl antiepileptics|Antikonvulsiva|Antiepileptikum|antiepileptique|anticonvulsive agents|anticonvulsive agent|anti-convulsants|anti-convulsant|anti-convulsive agent|anti-convulsive agents|antiepileptiques|antiepileptic|Antiepileptika|anticonvulsants|Antikonvulsivum owl:Class ENVO:01000313 biolink:NamedThing anthropogenic environment An anthropogenic environment is an environmental system which is the product of human activity. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055103 biolink:NamedThing ligase regulator activity Binds to and modulates the activity of a ligase. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001251 biolink:NamedThing Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). tmpak2llvmy_mondo_relaxed.owl Cerebellar ataxia SNOMEDCT_US:85102008|MSH:D002524|UMLS:C0007758 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. HP:0007050|HP:0007157|HP:0002513|HP:0001253 human_phenotype owl:Class MONDO:0013497 biolink:NamedThing Okt4 epitope deficiency tmpak2llvmy_mondo_relaxed.owl Okt4 epitope deficiency|T4 epitope deficiency OMIM:613949|UMLS:C3151379 owl:Class HGNC:1678 biolink:NamedThing CD4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0013000 biolink:NamedThing forebrain radial glial cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014992 biolink:NamedThing lissencephaly 8 Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene. tmpak2llvmy_mondo_relaxed.owl lissencephaly type 8|lissencephaly (disease) caused by mutation in TMTC3|TMTC3 lissencephaly (disease)|lissencephaly 8; LIS8|lissencephaly 8|LIS8 OMIM:617255|UMLS:C4310646 owl:Class MONDO:0003215 biolink:NamedThing apocrine sweat gland cancer A malignant neoplasm involving the apocrine sweat gland. tmpak2llvmy_mondo_relaxed.owl malignant apocrine neoplasm of the skin|malignant neoplasm of apocrine sweat gland|malignant apocrine neoplasm of skin|malignant apocrine skin neoplasm|malignant apocrine tumor of skin|malignant apocrine sweat gland neoplasm|apocrine sweat gland cancer|malignant apocrine skin tumor|malignant apocrine neoplasm|malignant apocrine tumor|cancer of apocrine sweat gland|malignant apocrine tumor of the skin DOID:4934|UMLS:C1334561|NCIT:C6800 owl:Class MONDO:0014613 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. tmpak2llvmy_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|PFBMFT3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related OMIM:616373|UMLS:C4225346 owl:Class HGNC:15888 biolink:NamedThing RTEL1 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000122 biolink:NamedThing 28-year-old human stage Adult stage that refers to an adult who is over 28 and under 29. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014772 biolink:NamedThing orofacial cleft 15 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. tmpak2llvmy_mondo_relaxed.owl DLX4 cleft lip/palate|cleft lip/palate caused by mutation in DLX4|OFC15|orofacial cleft type 15|orofacial cleft 15 DOID:0080408|OMIM:616788 owl:Class HGNC:2917 biolink:NamedThing DLX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054835 biolink:NamedThing parkinsonism-dystonia, infantile, 1 tmpak2llvmy_mondo_relaxed.owl PKDYS|dopamine transporter deficiency syndrome|Parkinsonism-dystonia, infantile, 1|PKDYS1 OMIM:613135 owl:Class HGNC:1093 biolink:NamedThing BPGM tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006590 biolink:NamedThing thyroid hormone generation The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6121 biolink:NamedThing IRF6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010272 biolink:NamedThing hyoid apparatus A group of bones comprised of hyoid body and two pairs of cornua (i.e. greater cornua and lesser cornua), and lies just below the tongue, above the thyroid cartilage tmpak2llvmy_mondo_relaxed.owl hyolingual system|apparatus hyobranchialis|hyobranchial apparatus|apparatus hyoideus owl:Class MONDO:0006378 biolink:NamedThing pleural epithelioid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. tmpak2llvmy_mondo_relaxed.owl malignant epithelioid mesothelioma of pleura|pleura malignant epithelioid mesothelioma|pleural epithelioid mesothelioma NCIT:C45662|UMLS:C1709574|EFO:1000484 owl:Class UBERON:0006524 biolink:NamedThing alveolar system System pertaining to a bronchus and alveoli. tmpak2llvmy_mondo_relaxed.owl bronchoalveolar system|pulmonary alveolar system owl:Class MONDO:0013820 biolink:NamedThing intellectual disability, autosomal dominant 15 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. tmpak2llvmy_mondo_relaxed.owl SMARCB1 Coffin-Siris syndrome|mental retardation, autosomal dominant type 15|autosomal dominant intellectual disability 15|Coffin-Siris syndrome caused by mutation in SMARCB1|mental retardation, autosomal dominant 15|CSS3|intellectual disability, autosomal dominant type 15|COFFIN-SIRIS syndrome 3|intellectual disability, autosomal dominant 15|MRD15|autosomal dominant mental retardation 15 OMIM:614608|UMLS:C3553248|DOID:0070045 owl:Class GO:0047045 biolink:NamedThing testosterone 17-beta-dehydrogenase (NADP+) activity Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione. tmpak2llvmy_mondo_relaxed.owl 17-ketoreductase activity|NADP-dependent testosterone-17beta-oxidoreductase activity|17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|testosterone 17beta-dehydrogenase (NADP+) owl:Class NCBITaxon:139 biolink:NamedThing Borreliella burgdorferi tmpak2llvmy_mondo_relaxed.owl Lyme disease spirochete|Borrelia burgdorferi GC_ID:11|PMID:24744012|PMID:1380285|PMID:8995796|PMID:1503971|PMID:7981102|PMID:9336916|PMID:7699027 ncbi_taxonomy owl:Class MONDO:0015049 biolink:NamedThing solitary necrotic nodule of the liver Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. tmpak2llvmy_mondo_relaxed.owl hepatic solitary necrotic nodule Orphanet:100035|ICD10:D13.4|SCTID:447058001|UMLS:CN197336 owl:Class MONDO:0016850 biolink:NamedThing atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. tmpak2llvmy_mondo_relaxed.owl atypical Norrie disease due to del(X)(p11.3)|atypical Norrie disease due to Xp11.3 microdeletion SCTID:733626002|ICD10:H35.5|Orphanet:261501|UMLS:CN202196|UMLS:C4518083 owl:Class NCBITaxon:11082 biolink:NamedThing West Nile virus tmpak2llvmy_mondo_relaxed.owl WNV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010100 biolink:NamedThing Tay-Sachs disease GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. tmpak2llvmy_mondo_relaxed.owl gangliosidosis GM2, type 1|hexosaminidase a deficiency|B variant GM2 gangliosidosis|Tay-Sachs disease, pseudo-Ab variant|GM2-gangliosidosis, type 1|TSD|Tay-Sachs disease, variant B1|GM2 gangliosidosis, type 1|GM2-gangliosidosis, variant B1|hexosaminidase a deficiency, adult type|hexosaminidase alpha-subunit deficiency (variant B)|B variant GM2-gangliosidosis|Tay-Sachs disease|Tay-Sachs disease, juvenile|sphingolipidosis, Tay-Sachs|TAY-Sachs disease|disease, Tay-Sachs|hexosaminidase A deficiency|GM2 gangliosidosis, B, B1 variant|GM2-gangliosidosis, adult chronic type|hexa deficiency DOID:3320|UMLS:C0039373|OMIM:272800|MedDRA:10043147|SCTID:111385000|NCIT:C85184|GARD:0007737|Orphanet:845|ICD10:E75.0|ICD10:E75.02|MESH:D013661 https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease owl:Class HGNC:4878 biolink:NamedThing HEXA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015179 biolink:NamedThing intestinal disease due to vitamin absorption anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:104004|UMLS:CN197521 owl:Class GO:1903061 biolink:NamedThing positive regulation of protein lipidation Any process that activates or increases the frequency, rate or extent of protein lipidation. tmpak2llvmy_mondo_relaxed.owl up-regulation of protein lipidation|up regulation of protein amino acid lipidation|up-regulation of protein amino acid lipidation|up-regulation of lipid:protein modification|activation of lipid:protein modification|activation of protein lipidation|up regulation of lipid:protein modification|upregulation of protein amino acid lipidation|positive regulation of lipid:protein modification|positive regulation of protein amino acid lipidation|activation of protein amino acid lipidation|up regulation of protein lipidation|upregulation of protein lipidation|upregulation of lipid:protein modification owl:Class HGNC:10483 biolink:NamedThing RYR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011877 biolink:NamedThing autosomal dominant osteopetrosis 1 Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. tmpak2llvmy_mondo_relaxed.owl osteopetrosis, autosomal dominant, type 1|osteopetrosis autosomal dominant type 1|osteopetrosis, autosomal dominant 1|osteopetrosis (disease) caused by mutation in LRP5|LRP5 osteopetrosis (disease)|OPTA1|osteopetrosis, autosomal dominant type 1|autosomal dominant osteopetrosis type 1 GARD:0004151|MESH:C536056|DOID:0110937|Orphanet:2783|ICD10:Q78.2|UMLS:C1843330|OMIM:607634 owl:Class MONDO:0005279 biolink:NamedThing pulmonary embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary embolism (disease)|embolism, pulmonary|pulmonary embolism|pulmonary embolus|pulmonary artery embolism pulmonary embolism (disease) SCTID:59282003|UMLS:C0034065|NCIT:C50713|EFO:0003827|HP:0002204|MESH:D011655|ICD10:I26.99|DOID:9477|ICD10:I26|ICD9:415.19 owl:Class HGNC:10942 biolink:NamedThing SLC1A4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005397 biolink:NamedThing brain arachnoid mater An arachnoid mater that surrounds a brain. tmpak2llvmy_mondo_relaxed.owl brain arachnoid matter|cranial arachnoid mater|arachnoidea mater cranialis|arachnoidea mater encephali owl:Class UBERON:0002016 biolink:NamedThing pulmonary vein Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. tmpak2llvmy_mondo_relaxed.owl venae pulmonales|pulmonary venous tree organ part owl:Class UBERON:0001591 biolink:NamedThing thymic vein A vein that drains blood from the thymus. tmpak2llvmy_mondo_relaxed.owl thymic tributary of brachiocephalic vein|vena thymica|venae thymicae owl:Class UBERON:0001612 biolink:NamedThing facial artery A branch of the external carotid artery that supplies structures of the face. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria maxillaris externa|external maxillary artery owl:Class HGNC:26922 biolink:NamedThing ERCC6L2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007106 biolink:NamedThing chorionic villus One of the minute vascular projections of the fetal chorion that combines with maternal uterine tissue to form the placenta. tmpak2llvmy_mondo_relaxed.owl fetal placenta|villous chorion|placental villus|chorionic villi|placental villous|embryonic placenta|embryonic part of placenta|chorionic villus|chorionic villous|fetal part of placenta|placental villi|villous of placenta owl:Class MONDO:0014100 biolink:NamedThing dilated cardiomyopathy 1KK Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1Kk|cardiomyopathy, dilated, 1KK|CMD1KK|cardiomyopathy, familial hypertrophic, 22|cardiomyopathy, familial restrictive, 4|MYPN dilated cardiomyopathy|dilated cardiomyopathy caused by mutation in MYPN|dilated cardiomyopathy type 1KK DOID:0110445|ICD10:I42.0|OMIM:615248 owl:Class OBO:CHR_9606-chr12q14 biolink:NamedThing chr12q14 (Human) tmpak2llvmy_mondo_relaxed.owl 67300000 57700000 hg38 owl:Class OBO:CHR_9606-chr12q1 biolink:NamedThing chr12q1 (Human) tmpak2llvmy_mondo_relaxed.owl 71100000 35500000 hg38 owl:Class MONDO:0006227 biolink:NamedThing gastric neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. tmpak2llvmy_mondo_relaxed.owl grade 1 neuroendocrine neoplasm of stomach|gastric ECL cell NET G1|gastric ECL-cell carcinoid tumor|stomach neuroendocrine neoplasm G1|gastric NET G1|gastric ECL cell, histamine-producing NET|gastric carcinoid tumor|stomach neuroendocrine tumor, well differentiated, low grade|stomach NET G1|stomach carcinoid tumor|gastric enterochromaffin-like cell carcinoid tumor|gastric enterochromaffin-like cell neuroendocrine tumor|gastric ECL cell NET NCIT:C4635|EFO:1000275|UMLS:C0349529 owl:Class GO:0015349 biolink:NamedThing thyroid hormone transmembrane transporter activity Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070327 biolink:NamedThing thyroid hormone transport The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl thyroxine transport|triiodothyronine transport owl:Class MONDO:0016885 biolink:NamedThing partial deletion of the short arm of chromosome 3 tmpak2llvmy_mondo_relaxed.owl partial monosomy of the short arm of chromosome 3|partial monosomy of chromosome 3p|partial deletion of the short arm of chromosome type 3|partial deletion of chromosome 3p Orphanet:261875|ICD10:Q93.5 owl:Class HGNC:20318 biolink:NamedThing SMOC1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008896 biolink:NamedThing post-hyoid pharyngeal arch A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. tmpak2llvmy_mondo_relaxed.owl branchial arches|branchial bar|visceral arches 3-7|gill arch|gill bar|branchial bars|branchial arch|gill arches 1-5|pharyngeal arch 3-7 owl:Class MONDO:0020798 biolink:NamedThing hypoparathyroidism, familial isolated, 2 tmpak2llvmy_mondo_relaxed.owl FIH2|hypoparathyroidism, familial isolated, 2 OMIM:618883 owl:Class CL:0001026 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. tmpak2llvmy_mondo_relaxed.owl CD71-positive common myeloid precursor Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). cell owl:Class CL:0002043 biolink:NamedThing CD34-positive, CD38-negative multipotent progenitor cell A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. tmpak2llvmy_mondo_relaxed.owl Cell markers are associated with human hematopoietic multipotent progenitor cells. tmeehan 2010-01-12T11:14:15Z cell owl:Class MONDO:0012421 biolink:NamedThing autosomal recessive nonsyndromic deafness 44 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. tmpak2llvmy_mondo_relaxed.owl ADCY1 autosomal recessive nonsyndromic deafness|DFNB44|autosomal recessive deafness 44|deafness, autosomal recessive 44|autosomal recessive nonsyndromic deafness type 44|autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|deafness, autosomal recessive type 44 MESH:C565716|UMLS:C1857809|ICD10:H90.3|DOID:0110501|OMIM:610154 owl:Class HGNC:232 biolink:NamedThing ADCY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005658 biolink:NamedThing Astroviridae infectious disease Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. tmpak2llvmy_mondo_relaxed.owl EFO:0007158|UMLS:C0376550|MESH:D019350 owl:Class NCBITaxon:39733 biolink:NamedThing Astroviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005568 biolink:NamedThing rhombomere 1 roof plate A rhombomere roof plate that is part of a rhombomere 1. tmpak2llvmy_mondo_relaxed.owl roof plate rhombomere 1 owl:Class UBERON:0005499 biolink:NamedThing rhombomere 1 Hindbrain segment or neuromere 1. tmpak2llvmy_mondo_relaxed.owl r1 owl:Class GO:0100026 biolink:NamedThing positive regulation of DNA repair by transcription from RNA polymerase II promoter Any transcription from RNA polymerase II promoter process that positively regulates DNA repair. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4298 biolink:NamedThing GLB1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051301 biolink:NamedThing cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. tmpak2llvmy_mondo_relaxed.owl owl:Class N47d40d96e3064f1b96a7f99dc5c03d48 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009087 biolink:NamedThing deafness, neural, congenital moderate tmpak2llvmy_mondo_relaxed.owl deafness, neural, congenital moderate MESH:C565640|UMLS:C1857337|OMIM:221500 owl:Class MONDO:0004877 biolink:NamedThing transient neonatal thrombocytopenia tmpak2llvmy_mondo_relaxed.owl ICD9:776.1|SCTID:23205009|UMLS:C0158991|ICD10:P61.0|DOID:9771 owl:Class HGNC:16513 biolink:NamedThing TMC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043765 biolink:NamedThing presbycusis Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. tmpak2llvmy_mondo_relaxed.owl Presbycuses|age-related hearing loss|presbyacusia|presbycusis|senile deafness MESH:D011304|NCIT:C116367|SCTID:49526009 owl:Class GO:0030335 biolink:NamedThing positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. tmpak2llvmy_mondo_relaxed.owl upregulation of cell migration|activation of cell migration|stimulation of cell migration|up regulation of cell migration|up-regulation of cell migration owl:Class UBERON:0036243 biolink:NamedThing vaginal fluid Fluid that lines the vaginal walls that consists of multiple secretions that collect in the vagina from different glands. tmpak2llvmy_mondo_relaxed.owl vaginal discharge|vaginal secretion owl:Class MONDO:0017667 biolink:NamedThing isolated diffuse palmoplantar keratoderma A diffuse palmoplantar keratoderma that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated diffuse keratosis palmoplantaris|isolated diffuse PPK|isolated diffuse palmoplantar hyperkeratosis|nonsyndromic diffuse palmoplantar keratoderma ICD10:Q82.8|Orphanet:307148 owl:Class NCBITaxon:1789 biolink:NamedThing Mycobacterium xenopi tmpak2llvmy_mondo_relaxed.owl Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018|Mycobacterium xenopei PMID:13641655|GC_ID:11|PMID:30186281 ncbi_taxonomy owl:Class MONDO:0011832 biolink:NamedThing autosomal dominant nonsyndromic deafness 44 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 44|CCDC50 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50|DFNA44|autosomal dominant nonsyndromic deafness type 44|deafness, autosomal dominant type 44|deafness, autosomal dominant 44 UMLS:C1843895|MESH:C564399|ICD10:H90.3|DOID:0110569|OMIM:607453 owl:Class HGNC:18111 biolink:NamedThing CCDC50 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011685 biolink:NamedThing polysubstance abuse, susceptibility to tmpak2llvmy_mondo_relaxed.owl PSAB|polysubstance abuse, susceptibility to|drug addiction, susceptibility to OMIM:606581 owl:Class HGNC:3553 biolink:NamedThing FAAH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034875 biolink:NamedThing future pituitary gland tmpak2llvmy_mondo_relaxed.owl pituitary primordium owl:Class HGNC:17022 biolink:NamedThing HPS5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7197 biolink:NamedThing MOG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003200 biolink:NamedThing urethra adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urethra tmpak2llvmy_mondo_relaxed.owl UAD|adenocarcinoma of urethra|adenocarcinoma of the urethra|urethra adenocarcinoma|urethral adenocarcinoma NCIT:C6167|DOID:4910|ONCOTREE:UAD|UMLS:C1336885 owl:Class MONDO:0014229 biolink:NamedThing microphthalmia, syndromic 12 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. tmpak2llvmy_mondo_relaxed.owl microphthalmia, syndromic type 12|MCOPS12|syndromic microphthalmia caused by mutation in RARB|RARB syndromic microphthalmia|microphthalmia, syndromic 12|syndromic microphthalmia-12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects GARD:0013235|OMIM:615524|UMLS:C3809803 https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 owl:Class HGNC:9865 biolink:NamedThing RARB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012767 biolink:NamedThing age related macular degeneration 11 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. tmpak2llvmy_mondo_relaxed.owl CST3 age-related macular degeneration|macular Degeneration, age-related, type 11|age related macular degeneration type 11|age-related macular degeneration caused by mutation in CST3|ARMD11|macular degeneration, age-related, 11 DOID:0110023|OMIM:611953|MESH:C567450|UMLS:C2677774 owl:Class HGNC:2475 biolink:NamedThing CST3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012247 biolink:NamedThing cervical gland mucus-secreting glands in the mucosa of the uterine cervix tmpak2llvmy_mondo_relaxed.owl glandulae cervicales owl:Class MONDO:0003556 biolink:NamedThing endometrial adenosquamous carcinoma A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. tmpak2llvmy_mondo_relaxed.owl adenosquamous carcinoma of the endometrium|adenosquamous carcinoma of endometrium|endometrium adenosquamous carcinoma|endometrial adenosquamous cancer|endometrial adenosquamous carcinoma DOID:5631|EFO:1001952|NCIT:C114656|GARD:0013107|UMLS:C3896969 owl:Class MONDO:0012398 biolink:NamedThing retinal cone dystrophy 3A tmpak2llvmy_mondo_relaxed.owl retinal cone dystrophy 3A|cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|cone dystrophy with night blindness and supernormal rod responses PDE6H-related|retinal cone dystrophy type 3A|RCD3A|achromatopsia 6 OMIM:610024|GARD:0010648|MESH:C566483|UMLS:C1864900 Editor note: TODO logical defs for achromatopsias https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a owl:Class MONDO:0020730 biolink:NamedThing carpal tunnel syndrome 1 tmpak2llvmy_mondo_relaxed.owl CTS1|amyotrophy, thenar, of carpal origin|CTS|carpal tunnel syndrome OMIM:115430 owl:Class GO:0051039 biolink:NamedThing positive regulation of transcription involved in meiotic cell cycle Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl stimulation of transcription during meiosis|up-regulation of transcription during meiosis|activation of transcription during meiosis|up regulation of transcription during meiosis|upregulation of transcription during meiosis|positive regulation of meiotic transcription|positive regulation of transcription, meiotic owl:Class UBERON:0016517 biolink:NamedThing lumen of jejunum A anatomical space that is part of a jejunum. tmpak2llvmy_mondo_relaxed.owl jejunum lumen|jejunal lumen owl:Class HGNC:6018 biolink:NamedThing IL6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090023 biolink:NamedThing positive regulation of neutrophil chemotaxis Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2938 biolink:NamedThing DMXL2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008544 biolink:NamedThing epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. tmpak2llvmy_mondo_relaxed.owl hypodermis development owl:Class UBERON:0002871 biolink:NamedThing hypoglossal nucleus Nucleus forming a longitudinal cell column in the medulla, close beneath the floor of the 4th ventricle, containing motor neurons that innervate the muscles of the tongue (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 453) tmpak2llvmy_mondo_relaxed.owl nucleus nervi hypoglossi|nucleus of hypoglossal nerve|hypoglossal nucleus|nucleus hypoglossalis|hypoglossal XII nucleus|hypoglossal nerve nucleus|twelfth cranial nerve nucleus owl:Class MONDO:0012698 biolink:NamedThing Waardenburg syndrome type 2E Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome, type 2E|SOX10 Waardenburg syndrome type 2|WS2E with or without neurological involvement|Waardenburg syndrome, type 2E, with or without neurologic involvement|WS2E|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|Waardenburg syndrome type IIE|Ws2E, with or without neurologic involvement|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|Waardenburg syndrome type 2E with or without neurologic involvement|Waardenburg syndrome type 2 caused by mutation in SOX10 UMLS:C2700405|OMIM:611584|DOID:0110956 owl:Class MONDO:0012439 biolink:NamedThing Alagille syndrome due to a NOTCH2 point mutation tmpak2llvmy_mondo_relaxed.owl Alagille-Watson syndrome due to a NOTCH2 point mutation|Alagille syndrome 2|Arteriohepatic dysplasia due to a NOTCH2 point mutation|Alagille syndrome due to a NOTCH2 point mutation|Alagille syndrome type 2|ALGS2|syndromic bile duct paucity due to a NOTCH2 point mutation Orphanet:261629|OMIM:610205|UMLS:C1857761|ICD10:Q44.7 owl:Class HGNC:17073 biolink:NamedThing ARHGAP26 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099143 biolink:NamedThing presynaptic actin cytoskeleton The actin cytoskeleton that is part of a presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003869 biolink:NamedThing presumptive ganglion A presumptive structure that has the potential to develop into a ganglion. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002066 biolink:NamedThing Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. tmpak2llvmy_mondo_relaxed.owl Ataxic gait|Inability to coordinate movements when walking|Ataxia of gait SNOMEDCT_US:25136009|MSH:D020234|UMLS:C0751837 HP:0002379 human_phenotype owl:Class MONDO:0000378 biolink:NamedThing malignant Sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site. tmpak2llvmy_mondo_relaxed.owl Sertoli cell tumor, malignant|malignant Androblastoma DOID:0050617|NCIT:C67006|UMLS:C0334406|ICDO:8630/3|ICDO:8640/3 owl:Class HGNC:21042 biolink:NamedThing NUS1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:12475 biolink:NamedThing Hepatitis delta virus tmpak2llvmy_mondo_relaxed.owl hepatitis delta virus HDV|HDV|Hepatitis D virus GC_ID:1 NCBITaxon:12682 ncbi_taxonomy owl:Class CL:0002437 biolink:NamedThing mature CD8 single-positive thymocyte A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpak2llvmy_mondo_relaxed.owl T.8SP24-.Th tmeehan 2010-10-21T03:51:50Z cell owl:Class UBERON:0002301 biolink:NamedThing layer of neocortex One of the layers of the neocortex. tmpak2llvmy_mondo_relaxed.owl cortical layer|lamina of neocortex|cerebral cortex layer|neocortex layer|layer of neocortex owl:Class MONDO:0013803 biolink:NamedThing leukoencephalopathy with calcifications and cysts tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy, brain calcifications, and cysts|LCC|Labrune syndrome Orphanet:542310|MESH:C000598644|OMIM:614561|UMLS:C3281200 owl:Class HGNC:32952 biolink:NamedThing SNORD118 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024292 biolink:NamedThing gastrointestinal polyp A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. tmpak2llvmy_mondo_relaxed.owl GI polyp|gastrointestinal tract polyp|gastrointestinal polyp UMLS:C0744333|NCIT:C35516 owl:Class MONDO:0012941 biolink:NamedThing inflammatory bowel disease 25 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. tmpak2llvmy_mondo_relaxed.owl IL10RB inflammatory bowel disease|inflammatory bowel disease 25, autosomal recessive|inflammatory bowel disease type 25|inflammatory bowel disease caused by mutation in IL10RB|inflammatory bowel disease, early-onset, autosomal recessive|IBD25|early onset autosomal recessive inflammatory bowel disease 25 OMIM:612567|UMLS:C2675508|DOID:0110909|MESH:C567251 owl:Class HGNC:5965 biolink:NamedThing IL10RB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4612 biolink:NamedThing GSC tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015721 biolink:NamedThing bile acid and bile salt transport The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl bile acid transport|bile salt transport owl:Class GO:0061370 biolink:NamedThing testosterone biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012520 biolink:NamedThing insulin-resistance syndrome type A Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|type A insulin resistance syndrome|diabetes mellitus, insulin-resistant, with acanthosis nigricans|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|insulin-resistant acanthosis nigricans, type A|Iran, type a Orphanet:2297|MESH:C562710|ICD10:E13|GARD:0003008|NCIT:C131836|EFO:1001503|OMIM:610549 owl:Class CL:0002503 biolink:NamedThing adventitial cell A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc tmpak2llvmy_mondo_relaxed.owl FMA:84639|BTO:0002441 tmeehan 2010-12-07T04:03:56Z cell owl:Class MONDO:0045053 biolink:NamedThing osteogenic neoplasm A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma. tmpak2llvmy_mondo_relaxed.owl osteogenic tumor|osseous tumor|osseous neoplasm|osteogenic neoplasm NCIT:C6603 owl:Class MONDO:0018747 biolink:NamedThing acquired epidermolysis bullosa Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. tmpak2llvmy_mondo_relaxed.owl EB acquisita|epidermolysis bullosa acquisita|epidermolysis bullosa Aquisita|acquired epidermolysis bullosa|EBA Orphanet:46487|UMLS:C0079293|EFO:1000691|SCTID:2772003|GARD:0006360|ICD10:L12.30|ICD9:695.19|NCIT:C84690|MESH:D016107|DOID:4313|ICD10:L12.3|MedDRA:10056508 https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita owl:Class CHEBI:35472 biolink:NamedThing anti-inflammatory drug A substance that reduces or suppresses inflammation. tmpak2llvmy_mondo_relaxed.owl antiinflammatory drug|antiinflammatory agent|anti-inflammatory drugs|antiinflammatory drugs owl:Class MONDO:0003522 biolink:NamedThing male orgasm disorder Persistent delay or absence in orgasm not accounted for by a medical reason. tmpak2llvmy_mondo_relaxed.owl inhibited male orgasm|male orgasmic disorder ICD10:F52.32|SCTID:81903006|DOID:5576|NCIT:C34959 owl:Class MONDO:0024644 biolink:NamedThing myocardial ischemia A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). tmpak2llvmy_mondo_relaxed.owl heart disease, ischemic|myocardium ischemic disease|IHD|ischemias, myocardial|ischemic heart disease|disease, ischemic heart|ischemic disease of myocardium|ischemic heart diseases|myocardial Ischemias|diseases, ischemic heart|heart diseases, ischemic|ischemia, myocardial UMLS:C0151744|NCIT:C50625|MESH:D017202|SCTID:414545008|EFO:1001375|ICD10:I20.I25 owl:Class CL:0011101 biolink:NamedThing chorionic trophoblast cell Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011266 biolink:NamedThing myotonic dystrophy type 2 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. tmpak2llvmy_mondo_relaxed.owl DM2|proximal myotonic dystrophy|dystrophia myotonica type 2|myotonic myopathy, proximal|ricker syndrome|dystrophia myotonica 2|myotonic dystrophy 2|PROMM|myotonic dystrophy type 2|myotonic dystrophy caused by mutation in CNBP|CNBP myotonic dystrophy|proximal myotonic myopathy|ricker disease ICD10:G71.19|ICD9:359.2|NCIT:C84680|Orphanet:606|OMIM:602668|DOID:0050759|GARD:0009728|ICD10:G71.1 https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 owl:Class HGNC:13164 biolink:NamedThing CNBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013219 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 2 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. tmpak2llvmy_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive, 2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|hypophosphatemic rickets, autosomal recessive, type 2|ARHR2|ENPP1 autosomal recessive hypophosphatemic rickets UMLS:C2750078|OMIM:613312|MESH:C567647 owl:Class HGNC:3356 biolink:NamedThing ENPP1 tmpak2llvmy_mondo_relaxed.owl owl:Class Nbed1ab6cb5354652b74fa2f3dbea818a biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019803 biolink:NamedThing angioma serpiginosum Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. tmpak2llvmy_mondo_relaxed.owl angioma serpiginosum of skin ICD10:L81.7|UMLS:CN206759|Orphanet:95429|SCTID:49465005|DOID:4028|NCIT:C3926 owl:Class PATO:0070002 biolink:NamedThing basket cell morphology A cell morphology that inheres in multipolar neurons with densely branched terminal axonal arborizations that form basket-like structures surrounding and synapsing to the somas of target cells. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3036 biolink:NamedThing DSC2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7551 biolink:NamedThing MYBPC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014246 biolink:NamedThing episodic pain syndrome, familial, 2 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. tmpak2llvmy_mondo_relaxed.owl episodic pain syndrome, familial, 2|SCN10A familial episodic pain syndrome|familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, type 2|FEPS2 DOID:0111730|UMLS:C3809893|OMIM:615551 owl:Class HGNC:1875 biolink:NamedThing CFL2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4421 biolink:NamedThing GNRHR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019947 biolink:NamedThing rippling muscle disease 2 An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. tmpak2llvmy_mondo_relaxed.owl CAV3 rippling muscle disease|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy limb-girdle type IC|rippling muscle disease 2|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|rippling muscle disease caused by mutation in CAV3|limb-girdle muscular dystrophy due to caveolin-3 deficiency|RMD2|LGMD1C|muscular dystrophy, limb-girdle, type IC|muscular dystrophy, limb-girdle, type 1C|rippling muscle disease type 2|limb-girdle muscular dystrophy type 1C MONDO:0011910|DOID:0060255|NCIT:C148325|UMLS:C1832560|OMIM:606072 owl:Class HGNC:1529 biolink:NamedThing CAV3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0019294 biolink:NamedThing commissure of telencephalon tmpak2llvmy_mondo_relaxed.owl telencephalic commissures owl:Class MONDO:0012393 biolink:NamedThing congenital brain dysgenesis due to glutamine synthetase deficiency tmpak2llvmy_mondo_relaxed.owl glutamine synthase deficiency, congenital systemic|congenital brain dysgenesis due to glutamine synthetase deficiency|congenital glutamine deficiency|glutamine deficiency, congenital|glutamine synthetase deficiency, congenital systemic|inherited glutamine synthetase deficiency|inherited GS deficiency Orphanet:71278|UMLS:C1864910|ICD10:E72.8|GARD:0009848|MESH:C536832|OMIM:610015 owl:Class HGNC:4341 biolink:NamedThing GLUL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010043 biolink:NamedThing hereditary spastic paraplegia 17 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. tmpak2llvmy_mondo_relaxed.owl Silver syndrome|spastic paraplegia-amyotrophy of hands and feet|autosomal dominant spastic paraplegia type 17|autosomal dominant spastic paraplegia 17|distal hereditary motor neuropathy type 5B|spastic paraplegia with amyotrophy of hands and feet|SPG17|hereditary spastic paraplegia type 17|spastic paraplegia 17, autosomal dominant|dHMN5B|spastic paraplegia 17|Silver spastic paraplegia syndrome|BSCL2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in BSCL2 Orphanet:100998|DOID:0110770|OMIM:270685|MESH:C536644|GARD:0004219|UMLS:CN074197|ICD10:G11.4|UMLS:C2931276 owl:Class UBERON:0014385 biolink:NamedThing aryepiglottic fold The entrance of the larynx is a triangular opening, narrow in front, wide behind, and sloping obliquely downward and backward. It is bounded, in front, by the epiglottis; behind, by the apices of the arytenoid cartilages, the corniculate cartilages, and the interarytenoid notch; and on either side, by a fold of mucous membrane, enclosing ligamentous and muscular fibers, stretched between the side of the epiglottis and the apex of the arytenoid cartilage; this is the aryepiglottic fold, on the posterior part of the margin of which the cuneiform cartilage forms a more or less distinct whitish prominence, the cuneiform tubercle. These folds form the upper borders of the quadrangular membrane. tmpak2llvmy_mondo_relaxed.owl plica aryepiglottica|ary-epiglottic fold|aryepiglottis|aryepiglottic sphincter|aryepiglottic folds owl:Class MONDO:0003529 biolink:NamedThing acute pyelonephritis Sudden onset pyelonephritis. tmpak2llvmy_mondo_relaxed.owl pyelonephritis, acute DOID:559|ICD10:N10|UMLS:C0520575|NCIT:C123215|SCTID:36689008|ICD9:590.1 owl:Class GO:0042487 biolink:NamedThing regulation of odontogenesis of dentin-containing tooth Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpak2llvmy_mondo_relaxed.owl regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth owl:Class GO:0042475 biolink:NamedThing odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. tmpak2llvmy_mondo_relaxed.owl odontogenesis of dentine-containing teeth|odontosis|odontogeny|tooth development|odontogenesis of dentine-containing tooth owl:Class UBERON:0005089 biolink:NamedThing sweat gland placode An sweat gland placode is a thickening of the ectoderm that will give rise to the sweat gland bud[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003262 biolink:NamedThing amniotic mesoderm A mesenchyme that is part of a amnion. tmpak2llvmy_mondo_relaxed.owl amnion mesoderm|amnionic mesoderm|amnionic mesenchyme|amnion mesenchyme|mesenchyme of amnion owl:Class CL:0002067 biolink:NamedThing type A enteroendocrine cell An enteroendocrine cell that produces glucagon. tmpak2llvmy_mondo_relaxed.owl FMA:62939 tmeehan 2010-09-10T10:48:54Z cell owl:Class MONDO:0000266 biolink:NamedThing pulmonary aspergilloma A aspergillosis that involves the lung. tmpak2llvmy_mondo_relaxed.owl lung aspergillosis UMLS:C2350529|MESH:D055732|DOID:0050153 owl:Class GO:1903829 biolink:NamedThing positive regulation of cellular protein localization Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpak2llvmy_mondo_relaxed.owl upregulation of cellular protein localisation|activation of cellular protein localisation|positive regulation of channel localizer activity|up regulation of channel localizer activity|activation of channel localizer activity|up-regulation of channel localizer activity|positive regulation of cellular protein localisation|upregulation of cellular protein localization|upregulation of channel localizer activity|up regulation of cellular protein localization|up regulation of cellular protein localisation|activation of cellular protein localization|up-regulation of cellular protein localization|up-regulation of cellular protein localisation owl:Class UBERON:0000461 biolink:NamedThing minor vestibular gland Small mucous glands opening upon the vestibular mucous membrane between the urethral and the vaginal orifice. tmpak2llvmy_mondo_relaxed.owl glandula vestibulares minor|Schueller's gland|Guerin's gland|periurethral gland|glandula vestibular minor|paraurethral gland|Skene gland|Guérin's gland|lesser vestibular gland|urethral gland of female urethra|Skene's gland owl:Class MONDO:0013188 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. tmpak2llvmy_mondo_relaxed.owl CAMRQ3|dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|CA8 dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 OMIM:613227|UMLS:C2750509|MESH:C567690 owl:Class HGNC:1382 biolink:NamedThing CA8 tmpak2llvmy_mondo_relaxed.owl owl:Class N8dfc644e210f40fba2f83243344a6832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021482 biolink:NamedThing benign neoplasm of middle ear A benign neoplasm that involves the middle ear. tmpak2llvmy_mondo_relaxed.owl middle ear benign neoplasm|benign tumor of the middle Ear|benign middle Ear neoplasm|benign tumor of middle Ear|benign neoplasm of the middle Ear|benign middle Ear tumor SCTID:92218002|ICD9:212.0|UMLS:C0347213|NCIT:C4602 owl:Class ENVO:01000268 biolink:NamedThing atmospheric water vapour Atmospheric water vapour is water vapour that is part of an atmosphere. tmpak2llvmy_mondo_relaxed.owl atmospheric water vapor owl:Class HGNC:4137 biolink:NamedThing GAN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004303 biolink:NamedThing parathyroid gland clear cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl clear cell adenoma of parathyroid gland|parathyroid gland transitional clear cell adenoma|transitional clear cell adenoma of parathyroid|parathyroid transitional clear cell adenoma|clear cell adenoma of the parathyroid gland|parathyroid gland clear cell adenoma|transitional clear cell adenoma of the parathyroid gland|parathyroid clear cell adenoma|transitional clear cell adenoma of the parathyroid|clear cell adenoma of the parathyroid|clear cell adenoma of parathyroid|transitional clear cell adenoma of parathyroid gland NCIT:C7993|DOID:7609|UMLS:C0279700 owl:Class MONDO:0014591 biolink:NamedThing autosomal dominant Robinow syndrome 2 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Robinow syndrome caused by mutation in DVL1|autosomal dominant Robinow syndrome type 2|DRS2|Robinow syndrome, autosomal dominant type 2|Robinow syndrome, autosomal dominant 2|DVL1 autosomal dominant Robinow syndrome UMLS:C4225363|OMIM:616331|ICD10:Q87.1|DOID:0060765 owl:Class HGNC:3084 biolink:NamedThing DVL1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:18407 biolink:NamedThing hydrogen cyanide A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom tmpak2llvmy_mondo_relaxed.owl Cyanwasserstoff|hydridonitridocarbon|hydrogen cyanide|methanenitrile|Blausaeure|HCN|[CHN]|Hydrogen cyanide|hydrocyanic acid|hydrogen(nitridocarbonate)|formonitrile owl:Class CHEBI:17514 biolink:NamedThing cyanide A pseudohalide anion that is the conjugate base of hydrogen cyanide. tmpak2llvmy_mondo_relaxed.owl cyanide|CN(-)|CN-|Cyanide|Prussiate|Zyanid|CYANIDE ION|nitridocarbonate(1-) owl:Class Nad0b4114e5c941e583067d0bdc6b194f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008025 biolink:NamedThing neuronopathy, distal hereditary motor, type 2A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. tmpak2llvmy_mondo_relaxed.owl neuronopathy, distal hereditary motor caused by mutation in HSPB8|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN2A|HSPB8 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIA|neuropathy, distal hereditary motor, type 2A|HMN 2A|Charcot-Marie-Tooth disease, spinal, 2A UMLS:C1834692|OMIM:158590|DOID:0111208|MESH:C563561 owl:Class HGNC:17208 biolink:NamedThing BICD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004738 biolink:NamedThing histidine metabolism disease A disease that has its basis in the disruption of histidine metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of histidine metabolism|histidine metabolic process disease|disorder of histidine metabolic process|disturbance of histidine metabolism SCTID:44176004|UMLS:C0268512 owl:Class GO:0006547 biolink:NamedThing histidine metabolic process The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl histidine metabolism owl:Class MONDO:0011712 biolink:NamedThing van der Woude syndrome 2 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. tmpak2llvmy_mondo_relaxed.owl van der Woude syndrome caused by mutation in GRHL3|van der Woude syndrome 2|VWS2|VAN DER Woude syndrome 2|GRHL3 van der Woude syndrome|Van Der Woude syndrome type 2 OMIM:606713|UMLS:C1847604|MESH:C536529|GARD:0007846 https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2 owl:Class MONDO:0020603 biolink:NamedThing X-linked chondrodysplasia punctata 2 X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. tmpak2llvmy_mondo_relaxed.owl Conradi-Hünermann-Happle syndrome|CDPXD|Conradi-Hunermann syndrome|chondrodysplasia punctata 2, X-linked dominant|Conradi-Hunermann-Happle syndrome|Happle syndrome|Conrad Hunermann Happle syndrome|chondrodysplasia punctata 2 X-linked dominant|chondrodysplasia punctata caused by mutation in EBP|CDPX2|X-linked chondrodysplasia punctata type 2|Conradi Hunermann syndrome|EBP chondrodysplasia punctata DOID:0080352|GARD:0006189|Orphanet:35173 https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant owl:Class HGNC:3133 biolink:NamedThing EBP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005993 biolink:NamedThing pulmonary valve anulus The fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps tmpak2llvmy_mondo_relaxed.owl fibrous ring of pulmonary valve|pulmonary anulus|anulus of pulmonary valve|pulmonary valvar anulus owl:Class MONDO:0008329 biolink:NamedThing autosomal dominant pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. tmpak2llvmy_mondo_relaxed.owl PHA I, autosomal dominant|renal PHA1|renal pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1 autosomal dominant|PHA1A|autosomal dominant PHA 1|pseudohypoaldosteronism type 1, dominant|pseudohypoaldosteronism, type I, autosomal dominant|autosomal dominant pseudohypoaldosteronism type 1 Orphanet:171871|OMIM:177735|DOID:0060855|GARD:0009145|NCIT:C126810|ICD10:N25.8|UMLS:C1449842 https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 owl:Class HGNC:21424 biolink:NamedThing IFT74 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0045084 biolink:NamedThing Limb myoclonus tmpak2llvmy_mondo_relaxed.owl Myoclonus of limbs Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 human_phenotype owl:Class GO:0005794 biolink:NamedThing Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. tmpak2llvmy_mondo_relaxed.owl Golgi ribbon|Golgi|Golgi complex owl:Class UBERON:0003606 biolink:NamedThing limb long bone A long bone that is part of a limb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl long bone of limb owl:Class HGNC:19957 biolink:NamedThing TECPR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014320 biolink:NamedThing optic atrophy-intellectual disability syndrome Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. tmpak2llvmy_mondo_relaxed.owl BBSOAS|optic atrophy-intellectual disability syndrome|BOSCH-Boonstra-Schaaf optic atrophy syndrome OMIM:615722|Orphanet:401777|UMLS:C3810363|ICD10:H47.2 owl:Class HGNC:7975 biolink:NamedThing NR2F1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043314 biolink:NamedThing aquarium granuloma A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. tmpak2llvmy_mondo_relaxed.owl Mycobacterium marinum caused skin disease|aquarium granuloma|swimming pool granuloma|fish tank granuloma|Mycobacterium marinum infection|Mycobacterium marinum skin disease|M. marinum GARD:0009712|UMLS:C0275708|SCTID:240417004|MESH:C535526 owl:Class NCBITaxon:1781 biolink:NamedThing Mycobacterium marinum tmpak2llvmy_mondo_relaxed.owl Mycobacterium balnei|Mycobacterium platypoecilus PMID:12089250|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013518 biolink:NamedThing pituitary hormone deficiency, combined, 6 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. tmpak2llvmy_mondo_relaxed.owl pituitary hormone deficiency, combined, type 6|CPHD6|pituitary hormone deficiency, combined, 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|OTX2 combined pituitary hormone deficiencies, genetic form UMLS:C3151440|OMIM:613986 owl:Class HGNC:8522 biolink:NamedThing OTX2 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000522 biolink:NamedThing exposure to mitochondrial respiratory-chain inhibitor An exposure to mitochondrial respiratory-chain inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to mitochondrial respiratory-chain inhibitor owl:Class MONDO:0014797 biolink:NamedThing lymphatic malformation 6 tmpak2llvmy_mondo_relaxed.owl generalized lymphatic dysplasia of Fotiou|LMPH3|lymphedema, hereditary, 3|lymphedema, hereditary, III|lymphedema, hereditary, type III EFO:0009153|OMIM:616843|UMLS:C4225184 owl:Class HGNC:28993 biolink:NamedThing PIEZO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013824 biolink:NamedThing Joubert syndrome 17 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. tmpak2llvmy_mondo_relaxed.owl CPLANE1 Joubert syndrome|Joubert syndrome caused by mutation in CPLANE1|JBTS17|Joubert syndrome type 17|Joubert syndrome 17 UMLS:C3553264|DOID:0110986|OMIM:614615 owl:Class HGNC:25801 biolink:NamedThing CPLANE1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4827 biolink:NamedThing HBB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012582 biolink:NamedThing interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. tmpak2llvmy_mondo_relaxed.owl interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency|surfactant metabolism dysfunction, pulmonary, 3|surfactant metabolism dysfunction, pulmonary, type 3|pulmonary alveolar proteinosis, congenital, 3|SMDP3|interstitial lung disease due to ABCA3 deficiency UMLS:C1970456|OMIM:610921|ICD10:J84.8|Orphanet:440402|MESH:C567046 owl:Class HGNC:33 biolink:NamedThing ABCA3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3619 biolink:NamedThing FCGR3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004662 biolink:NamedThing heterophyiasis An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpak2llvmy_mondo_relaxed.owl Heterophyes infection|infections, Heterophyes|Heterophyes infectious disease DOID:882|ICD9:121.6|SCTID:22905009|ICD10:B66.8|NCIT:C128389|UMLS:C0152071 owl:Class NCBITaxon:104454 biolink:NamedThing Heterophyes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013316 biolink:NamedThing occult macular dystrophy Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. tmpak2llvmy_mondo_relaxed.owl OCMD|OMD|occult macular dystrophy|Omd Orphanet:247834|UMLS:C3150833|ICD10:H35.5|DOID:0050578|OMIM:613587 owl:Class HP:0000572 biolink:NamedThing Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). tmpak2llvmy_mondo_relaxed.owl Vision loss|Loss of vision|Visual loss UMLS:C3665386|SNOMEDCT_US:7973008 human_phenotype owl:Class MONDO:0021180 biolink:NamedThing acquired xanthinuria Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. tmpak2llvmy_mondo_relaxed.owl acquired xanthinuria owl:Class MONDO:0003931 biolink:NamedThing childhood optic tract astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric optic tract astrocytoma|childhood visual pathway astrocytoma|pediatric visual pathway astrocytoma|childhood optic tract astrocytoma|optic tract astrocytoma of childhood NCIT:C7534|UMLS:C1333014|DOID:6575 owl:Class MONDO:0013867 biolink:NamedThing brown-Vialetto-van Laere syndrome 2 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene. tmpak2llvmy_mondo_relaxed.owl BROWN-Vialetto-VAN Laere syndrome 2|SLC52A2 Brown-Vialetto-van Laere syndrome|brown-Vialetto-van Laere syndrome 2|BVVLS2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2|Brown-Vialetto-Van Laere syndrome type 2 GARD:0012861|UMLS:C3553538|OMIM:614707|HGNC:30224 https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 owl:Class MONDO:0012078 biolink:NamedThing Joubert syndrome 3 Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 3|Joubert syndrome caused by mutation in AHI1|Joubert syndrome type 3|JBTS3|AHI1 Joubert syndrome MESH:C536295|NCIT:C148259|DOID:0110998|UMLS:C1837713|OMIM:608629 owl:Class HGNC:21575 biolink:NamedThing AHI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002542 biolink:NamedThing spinal cord glioma A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. tmpak2llvmy_mondo_relaxed.owl spinal cord malignant glioma|spinal cord glial neoplasm|malignant glioma of spinal cord|glial neoplasm spinal cord|glial tumor of spinal cord|glioma of spinal cord|spinal cord glioma|spinal cord glial tumor UMLS:C2937245|NCIT:C4534|SCTID:254946004|DOID:3185 owl:Class MONDO:0002379 biolink:NamedThing cystic teratoma tmpak2llvmy_mondo_relaxed.owl cystic teratoma DOID:2660|NCIT:C9014|UMLS:C1368903 owl:Class UBERON:0017654 biolink:NamedThing buccal gland Any of the small racemose mucous glands in the mucous membrane lining the cheeks tmpak2llvmy_mondo_relaxed.owl cheek gland owl:Class HGNC:4315 biolink:NamedThing GLE1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003050 biolink:NamedThing olfactory placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. tmpak2llvmy_mondo_relaxed.owl olfactory placodes|placoda nasalis|nasal placode|nasal I placode|placoda olfactoria owl:Class MONDO:0013769 biolink:NamedThing atrioventricular septal defect 5 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene. tmpak2llvmy_mondo_relaxed.owl atrioventricular septal defect type 5|atrioventricular septal defect 5|GATA6 atrioventricular septal defect|atrioventricular septal defect caused by mutation in GATA6|AVSD5 UMLS:C3280939|OMIM:614474 owl:Class UBERON:0009206 biolink:NamedThing lateral nasal process surface ectoderm An ectoderm that is part of a lateral nasal prominence. tmpak2llvmy_mondo_relaxed.owl ectoderm of latero-nasal process owl:Class Nfb335edde2ef4ff68f805ecf8002c409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N1286aa89eb6c47b4bbe5aaa41051f9cd biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ENVO:04000010 biolink:NamedThing soil surface layer A surface layer which is composed primarily of soil. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005802 biolink:NamedThing hymenolepiasis A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. tmpak2llvmy_mondo_relaxed.owl Hymenolepsis infection|Hymenolepis infectious disease|dwarf tapeworm infection|hymenolepiasis SCTID:44917000|UMLS:C0020413|ICD10:B71.0|DOID:10074|Orphanet:401|MedDRA:10020546|MESH:D006925|EFO:0007317|UMLS:C0277045|GARD:0002787|ICD9:123.6|NCIT:C84768 https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis owl:Class MONDO:0001777 biolink:NamedThing acute gonococcal cystitis Acute form of gonococcal cystitis. tmpak2llvmy_mondo_relaxed.owl gonococcal cystitis, acute|acute gonorrhea of bladder|gonococcal cystitis (acute) ICD9:098.11|DOID:13690|SCTID:24868007|UMLS:C0153191 owl:Class HGNC:8800 biolink:NamedThing PDGFB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25695 biolink:NamedThing CARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021222 biolink:NamedThing lacrimal gland neoplasm A neoplasm (disease) that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl neoplasm of lacrimal gland|lacrimal gland neoplasm (disease)|tumor of lacrimal gland|neoplasm of the lacrimal gland|lacrimal gland tumor|tumor of the lacrimal gland NCIT:C4360 owl:Class MONDO:0007572 biolink:NamedThing primary familial polycythemia due to EPO receptor mutation Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. tmpak2llvmy_mondo_relaxed.owl primary familial and congenital polycythemia|erythrocytosis, familial, type 1|familial erythrocytosis, 1|congenital polycythemia due to erythropoietin receptor mutation|primary congenital erythrocytosis|familial erythrocytosis type 1|erythrocytosis, autosomal dominant benign|erythrocytosis, familial, 1|erythrocytosis familial, 1|primary familial polycythemia|PFCP|familial polycythemia caused by mutation in EPOR|familial erythrocytosis|autosomal dominant benign erythrocytosis|EPOR familial polycythemia|polycythemia, primary familial and congenital|familial erythrocytosis 1|erythrocytosis autosomal dominant benign|congenital erythrocytosis due to erythropoietin receptor mutation|ECYT1 OMIM:133100|ICD10:D75.0|GARD:0009843|SCTID:17342003|DOID:0060652|ICD9:289.6|Orphanet:90042 Editor note: check relation to familial polycythemia https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 owl:Class HGNC:3416 biolink:NamedThing EPOR tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25532 biolink:NamedThing MTPAP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003118 biolink:NamedThing pharyngeal arch artery 1 The vessels formed within the first pair of branchial arches in embryogenesis tmpak2llvmy_mondo_relaxed.owl first aortic arch|1st aortic arch artery|AA1|first branchial arch artery|mandibular aortic arch|aortic arch 1|1st pharyngeal arch artery|first arch artery|1st arch artery|1st branchial arch artery owl:Class MONDO:0014469 biolink:NamedThing autosomal recessive nonsyndromic deafness 103 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive nonsyndromic deafness type 103|deafness, autosomal recessive type 103|autosomal recessive deafness 103|deafness, autosomal recessive 103|CLIC5 autosomal recessive nonsyndromic deafness|DFNB103 DOID:0110464|OMIM:616042|ICD10:H90.3|UMLS:C4015050 owl:Class MONDO:0014502 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections. tmpak2llvmy_mondo_relaxed.owl MSMD due to complete ISG15 deficiency|ISG15 deficiency, autosomal recessive|immunodeficiency 38 with basal ganglia calcification|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency 38, Mycobacteriosis, autosomal recessive|IMD38|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15 Orphanet:319563|UMLS:C4015293|OMIM:616126|ICD10:D84.8 Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease owl:Class HGNC:4053 biolink:NamedThing ISG15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013552 biolink:NamedThing hereditary spastic paraplegia 52 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 52|cerebral palsy, spastic quadriplegic, 6|hereditary spastic paraplegia 52|AP4S1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 6, formerly|spastic paraplegia 52, autosomal recessive|spastic quadriplegic cerebral palsy 6|hereditary spastic paraplegia type 52|SPG52|hereditary spastic paraplegia caused by mutation in AP4S1|CPSQ6 UMLS:C3279743|OMIM:614067|DOID:0110804 owl:Class OBO:CHR_9606-chr16p13.1 biolink:NamedThing chr16p13.1 (Human) tmpak2llvmy_mondo_relaxed.owl 16700000 10400000 hg38 owl:Class UBERON:0004473 biolink:NamedThing musculature of face Any collection of muscles that is part of a face. tmpak2llvmy_mondo_relaxed.owl facial muscles|musculi faciei|set of facial muscles|muscle group of face|entire facial musculature|set of muscles of face owl:Class MONDO:0005908 biolink:NamedThing peste des petits ruminants infectious disease A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. tmpak2llvmy_mondo_relaxed.owl Pseudorinderpest|Small ruminant morbillivirus disease or disorder|Peste des petits ruminants|Small ruminant morbillivirus infectious disease|Small ruminant morbillivirus caused disease or disorder UMLS:C0949885|EFO:0007431|MESH:D029021 owl:Class MONDO:0013140 biolink:NamedThing candidiasis, familial, 4 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene. tmpak2llvmy_mondo_relaxed.owl CANDF4|candidiasis, familial chronic mucocutaneous|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|CLEC7A familial chronic mucocutaneous candidiasis|candidiasis, familial, type 4|candidiasis, familial, 4 OMIM:613108|SCTID:235073000|UMLS:C0341024 owl:Class HGNC:14558 biolink:NamedThing CLEC7A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016146 biolink:NamedThing caveolinopathy A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of caveolin-3 UMLS:CN043575|Orphanet:207078 owl:Class MONDO:0100152 biolink:NamedThing DKC1-related disorder Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. tmpak2llvmy_mondo_relaxed.owl DKC1-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:2890 biolink:NamedThing DKC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100003 biolink:NamedThing susceptibility to angioedema induced by ACE inhibitors An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema. tmpak2llvmy_mondo_relaxed.owl OMIM:300909 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class HGNC:12823 biolink:NamedThing XPNPEP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001223 biolink:NamedThing left ureter An ureter that is part of a left side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014577 biolink:NamedThing short-rib thoracic dysplasia 13 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 13 with or without polydactyly|SRTD13 ICD10:Q77.2|UMLS:C4225378|DOID:0110093|OMIM:616300 owl:Class MONDO:0020959 biolink:NamedThing Mansonella ozzardi infection An infection that is caused by the organism Mansonella ozzardi. tmpak2llvmy_mondo_relaxed.owl mansonella ozzardi infection|Filariasis ozzardi|filariasis ozzardi|Ozzardian filariasis NCIT:C34612|ICD9:125.5|SCTID:30865009|UMLS:C0016089 owl:Class NCBITaxon:122354 biolink:NamedThing Mansonella ozzardi tmpak2llvmy_mondo_relaxed.owl Mansonella (Mansonella) ozzardi GC_ID:1 ncbi_taxonomy owl:Class HGNC:8729 biolink:NamedThing PCNA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012339 biolink:NamedThing celiac disease, susceptibility to, 4 Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene. tmpak2llvmy_mondo_relaxed.owl MYO9B celiac disease|celiac disease, susceptibility to, 4|CELIAC4|celiac disease caused by mutation in MYO9B|gluten-sensitive enteropathy, susceptibility to, 4|celiac disease, susceptibility to, type 4|susceptibility to celiac disease 4 OMIM:609753 owl:Class HGNC:7609 biolink:NamedThing MYO9B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7643 biolink:NamedThing NARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060677 biolink:NamedThing chromosome 1p35 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 1p35 deletion syndrome OMIM:617930|UMLS:CN244562 owl:Class MONDO:0008520 biolink:NamedThing brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. tmpak2llvmy_mondo_relaxed.owl carpal synostosis with dysplastic elbow joints and brachydactyly|LIEBENBERG syndrome|LBNBG|synostosis, carpal, with dysplastic elbow joints and brachydactyly|Liebenberg syndrome|brachydactyly-joint dysplasia syndrome|brachydactyly with joint dysplasia|brachydactyly with Joint dysplasia|brachydactyly elbow wrist dysplasia MESH:C566090|OMIM:186550|SCTID:764437006|GARD:0000966|UMLS:C1861313|Orphanet:1275|ICD10:Q73.8 https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia owl:Class HGNC:9004 biolink:NamedThing PITX1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006861 biolink:NamedThing diaphysis proper Subdivision of long bone which forms the part of the bone between two metaphyses. Note that the diaphysis includes the metaphyses, but the diaphysis proper excludes these. tmpak2llvmy_mondo_relaxed.owl shaft proper of long bone|long bone diaphysis|body proper of long bone owl:Class ENVO:01000242 biolink:NamedThing desert scrubland A scrubland which is located in a desert. tmpak2llvmy_mondo_relaxed.owl desert scrub owl:Class N02d4a7a421da400b97cd5c5f11a77d62 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014806 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 1 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. tmpak2llvmy_mondo_relaxed.owl TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy with congenital bone fractures 1|SMA1 with congenital bone fractures|SMABF1|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4|spinal muscular atrophy type 1 with congenital bone fractures|spinal muscular atrophy with congenital bone fractures type 1 UMLS:C1849101|OMIM:271225|MESH:C564805|GARD:0004947|OMIM:616866|UMLS:C4225177 owl:Class HGNC:12310 biolink:NamedThing TRIP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045042 biolink:NamedThing restricted to specific location tmpak2llvmy_mondo_relaxed.owl localized owl:Class ENVO:00005800 biolink:NamedThing desert sand Sand which is part of a desert. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014024 biolink:NamedThing hereditary spastic paraplegia 43 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 43|SPG43|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|autosomal recessive spastic paraplegia type 43|spastic paraplegia 43, autosomal recessive|C19orf12 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 43 OMIM:615043|SCTID:764736001|Orphanet:320370|DOID:0110795|UMLS:C2680446|ICD10:G11.4 owl:Class GO:2001225 biolink:NamedThing regulation of chloride transport Any process that modulates the frequency, rate or extent of chloride transport. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006821 biolink:NamedThing chloride transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9722 biolink:NamedThing ALDH18A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003649 biolink:NamedThing esophageal neuroendocrine tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. tmpak2llvmy_mondo_relaxed.owl neuroendocrine tumor of esophagus|esophageal NEN|esophageal NET|esophagus neuroendocrine neoplasm|esophagus neuroendocrine tumor|esophageal neuroendocrine neoplasm|esophageal neuroendocrine tumor|NEN of esophagus|esophageal well differentiated endocrine tumor|esophagus NET|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|esophageal well differentiated endocrine tumor/carcinoma|neuroendocrine neoplasm of esophagus UMLS:C1333462|NCIT:C95616|Orphanet:506136|DOID:5784|UMLS:C2987260 owl:Class GO:0050877 biolink:NamedThing nervous system process A organ system process carried out by any of the organs or tissues of neurological system. tmpak2llvmy_mondo_relaxed.owl neurological system process|neurophysiological process|pan-neural process owl:Class NCBITaxon:730 biolink:NamedThing [Haemophilus] ducreyi tmpak2llvmy_mondo_relaxed.owl Bacillus ulceris cancrosi|Coccobacillus ducreyi|Haemophilus ducreyi GC_ID:11 ncbi_taxonomy owl:Class GO:0045719 biolink:NamedThing negative regulation of glycogen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpak2llvmy_mondo_relaxed.owl negative regulation of glycogen synthesis|negative regulation of glycogen biosynthesis|down regulation of glycogen biosynthetic process|inhibition of glycogen biosynthetic process|down-regulation of glycogen biosynthetic process|negative regulation of glycogen formation|downregulation of glycogen biosynthetic process|negative regulation of glycogen anabolism owl:Class GO:0005978 biolink:NamedThing glycogen biosynthetic process The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpak2llvmy_mondo_relaxed.owl glycogen biosynthesis|glycogen synthesis|glycogen anabolism|glycogen formation owl:Class MONDO:0014943 biolink:NamedThing mitochondrial DNA depletion syndrome 15 (hepatocerebral type); Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. tmpak2llvmy_mondo_relaxed.owl TFAM mitochondrial DNA depletion syndrome|MTDPS15|mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|mitochondrial DNA depletion syndrome caused by mutation in TFAM OMIM:617156|DOID:0080337|UMLS:C4310690 owl:Class HGNC:11741 biolink:NamedThing TFAM tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010378 biolink:NamedThing mesenchyme from splanchnopleure Mesenchyme that develops_from a splanchnopleure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006230 biolink:NamedThing gastric squamous cell carcinoma A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body. tmpak2llvmy_mondo_relaxed.owl gastric (stomach) squamous cell cancer|stomach squamous cell carcinoma|squamous cell carcinoma of the stomach|gastric squamous cell carcinoma|squamous cell carcinoma of stomach ICD10:C16.5|UMLS:C1333789|SCTID:766980008|NCIT:C5475|ICD10:C16.3|Orphanet:418959|EFO:1000278|ICD10:C16.4|ICD10:C16.2|UMLS:CN237470|ICD10:C16.1|ICD10:C16.0|DOID:5516|ICD10:C16.8 owl:Class MONDO:0024506 biolink:NamedThing Adams-Oliver syndrome 1 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene. tmpak2llvmy_mondo_relaxed.owl absence defect of limbs, scalp, and skull|aplasia cutis congenita with terminal transverse limb defects|Adams-Oliver syndrome caused by mutation in ARHGAP31|AOS1|ARHGAP31 Adams-Oliver syndrome|aplasia cutis congenita, congenital heart defect, and frontonasal cysts|congenital scalp defects with distal limb reduction anomalies|Adams-Oliver syndrome 1|AOS OMIM:100300|UMLS:CN028867 owl:Class HGNC:29216 biolink:NamedThing ARHGAP31 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3395 biolink:NamedThing EPHB4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000646 biolink:NamedThing Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. tmpak2llvmy_mondo_relaxed.owl Wandering eye|Lazy eye|Wandering eyes MSH:D000550|SNOMEDCT_US:387742006|UMLS:C0002418 Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. human_phenotype owl:Class CL:0000811 biolink:NamedThing CD8-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. tmpak2llvmy_mondo_relaxed.owl CD8-positive, alpha-beta immature T cell|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte|CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte cell owl:Class GO:0035369 biolink:NamedThing pre-B cell receptor complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpak2llvmy_mondo_relaxed.owl pre-BCR owl:Class GO:0033683 biolink:NamedThing nucleotide-excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. tmpak2llvmy_mondo_relaxed.owl nucleic acid cleavage involved in nucleotide-excision repair|DNA incision involved in nucleotide-excision repair owl:Class MONDO:0012634 biolink:NamedThing craniofacial dysplasia - osteopenia syndrome tmpak2llvmy_mondo_relaxed.owl hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility|HAMAMY syndrome|HMMS|Hamamy syndrome|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility UMLS:C1970027|MESH:C566988|OMIM:611174|Orphanet:314555 owl:Class MONDO:0014657 biolink:NamedThing primary ciliary dyskinesia 32 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene. tmpak2llvmy_mondo_relaxed.owl CILD32|RSPH3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 32|primary ciliary dyskinesia caused by mutation in RSPH3|primary ciliary dyskinesia type 32|ciliary dyskinesia, primary, 32, without situs inversus|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia 32 without situs inversus UMLS:C4225311|OMIM:616481|ICD10:Q34.8|DOID:0110603 owl:Class HGNC:21054 biolink:NamedThing RSPH3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:854 biolink:NamedThing ATP6V1B2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24488 biolink:NamedThing POC1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010741 biolink:NamedThing tooth agenesis, selective, X-linked, 1 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. tmpak2llvmy_mondo_relaxed.owl hypodontia/oligodontia, X-linked, 1|tooth agenesis caused by mutation in EDA|tooth agenesis, selective, X-linked, type 1|tooth agenesis, selective, X-linked, 1|STHAGX1|EDA tooth agenesis MESH:C567060|UMLS:C1970757|OMIM:313500 owl:Class UBERON:0009621 biolink:NamedThing tail somite A somite that is part of a tail. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005029 biolink:NamedThing mucosa of lacrimal canaliculus A mucosa that is part of a lacrimal canaliculus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lacrimal canaliculus mucous membrane|organ mucosa of lacrimal canaliculus|mucous membrane of lacrimal canaliculus|lacrimal canaliculus organ mucosa|mucosa of organ of lacrimal canaliculus|lacrimal canaliculus mucosa of organ|lacrimal canalicular mucosa|lacrimal canaliculus mucosa owl:Class MONDO:0003292 biolink:NamedThing anus leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of anus|anus leiomyoma|anal leiomyoma|leiomyoma of the anus NCIT:C5608|DOID:5134|UMLS:C1332266 owl:Class GO:0040020 biolink:NamedThing regulation of meiotic nuclear division Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. tmpak2llvmy_mondo_relaxed.owl regulation of meiosis owl:Class Nf374eeec10f3446a8c291293b972d013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012704 biolink:NamedThing dilated cardiomyopathy 1X Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1X|CMD1X|cardiomyopathy, dilated, with mild or No proximal muscle weakness|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, type 1X|familial isolated dilated cardiomyopathy caused by mutation in FKTN|cardiomyopathy, dilated, 1X|FKTN familial isolated dilated cardiomyopathy UMLS:C1969024|MESH:C566907|ICD10:I42.0|OMIM:611615|DOID:0110444 owl:Class MONDO:0014930 biolink:NamedThing intellectual disability, autosomal recessive 56 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive type 56|ZC3H14 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 56|MRT56|intellectual disability, autosomal recessive 56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|mental retardation, autosomal recessive 56 OMIM:617125|UMLS:C4310703 owl:Class HGNC:20509 biolink:NamedThing ZC3H14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004499 biolink:NamedThing lung hilum carcinoma A lung carcinoma arising from the hilum of the lung. tmpak2llvmy_mondo_relaxed.owl lung hilum carcinoma|carcinoma of lung hilus|lung hilum cancer|hilar lung carcinoma|lung hilus carcinoma DOID:8207|UMLS:C1334445|NCIT:C7454 owl:Class UBERON:0001685 biolink:NamedThing hyoid bone A horseshoe shaped bone situated in the anterior midline of the neck between the chin and the thyroid cartilage. The hyoid bone provides attachment to the muscles of the floor of the mouth and the tongue above, the larynx below, and the epiglottis and pharynx behind. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl hyoid bone|hyoid|os hyoideum|hyoideum|lingual bone owl:Class MONDO:0022812 biolink:NamedThing complement receptor deficiency A disorder with basis in disruption of a complement receptor. tmpak2llvmy_mondo_relaxed.owl complement receptor deficiency ICD9:279.8|SCTID:234628004|UMLS:C0398783|GARD:0009527 https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency owl:Class MONDO:0013422 biolink:NamedThing type I complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. tmpak2llvmy_mondo_relaxed.owl C8D1|C8Ag deficiency|complement component 8 deficiency, type 1|C81 deficiency|C8 deficiency, type 1|complement component 8 deficiency, type I|C8 Alpha-gamma deficiency|C8A classic complement early component deficiency|classic complement early component deficiency caused by mutation in C8A|complement component 8 deficiency type I|C8 deficiency type I|complement component 8 deficiency type 1 UMLS:C3151081|DOID:0060301|ICD10:D84.1|GARD:0010626|OMIM:613790|HGNC:1352 https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1 owl:Class HGNC:1352 biolink:NamedThing C8A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004445 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 1 A proximal epiphysis that is part of a proximal phalanx of manual digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal epiphysis of proximal phalanx of manual digit I|basal epiphysis of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of thumb|base of proximal phalanx of thumb owl:Class MONDO:0003513 biolink:NamedThing gastric teratoma A mature or immature teratoma that arises from the stomach. tmpak2llvmy_mondo_relaxed.owl teratoma of stomach|teratoma of the stomach|stomach teratoma|gastric teratoma NCIT:C5259|UMLS:C1333790|DOID:5561 owl:Class MONDO:0011136 biolink:NamedThing Quebec platelet disorder Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. tmpak2llvmy_mondo_relaxed.owl platelet-type bleeding disorder 5|Quebec platelet disorder|bleeding disorder, platelet-type, 5|factor 5 Quebec|BDPLT5|factor V Quebec|QPD MESH:C536260|UMLS:C1866423|Orphanet:220436|OMIM:601709|DOID:0111050|GARD:0008345|ICD10:D69.1 https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder owl:Class HGNC:9052 biolink:NamedThing PLAU tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008211 biolink:NamedThing pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. tmpak2llvmy_mondo_relaxed.owl Patterson pseudoleprechaunism syndrome|Patterson's leprechaunoid syndrome|Patterson syndrome ICD10:E34.8|Orphanet:2976|OMIM:169170|UMLS:C1868546|MESH:C536310|GARD:0004259 owl:Class MONDO:0017783 biolink:NamedThing congenital pancreatic cyst tmpak2llvmy_mondo_relaxed.owl neonatal congenital pancreatic cyst|true congenital pancreatic cyst SCTID:204808002|Orphanet:313906|ICD10:Q45.2 owl:Class UBERON:0035508 biolink:NamedThing branch of posterior cerebral artery tmpak2llvmy_mondo_relaxed.owl posterior cerebral arterial branch owl:Class CHEBI:15440 biolink:NamedThing squalene A triterpene consisting of 2,6,10,15,19,23-hexamethyltetracosane having six double bonds at the 2-, 6-, 10-, 14-, 18- and 22-positions with (all-E)-configuration. tmpak2llvmy_mondo_relaxed.owl Supraene|Squalene|(all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-tetracosahexaene|(6E,10E,14E,18E)-2,6,10,15,19,23-hexamethyltetracosa-2,6,10,14,18,22-hexaene|Spinacene|squalene owl:Class MONDO:0003376 biolink:NamedThing mediastinum leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl mediastinum leiomyosarcoma|mediastinal leiomyosarcoma|leiomyosarcoma of the mediastinum|leiomyosarcoma of mediastinum NCIT:C6619|UMLS:C1334660|DOID:5292 owl:Class MONDO:0010817 biolink:NamedThing autosomal dominant nonsyndromic deafness 2A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 2A|deafness, autosomal dominant 2A|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4|DFNA2A|autosomal dominant deafness 2A|KCNQ4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 2A DOID:0110558|ICD10:H90.3|OMIM:600101|UMLS:C2677637|MESH:C567441 owl:Class HGNC:6298 biolink:NamedThing KCNQ4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001933 biolink:NamedThing negative regulation of protein phosphorylation Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. tmpak2llvmy_mondo_relaxed.owl down regulation of protein amino acid phosphorylation|downregulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation|negative regulation of protein amino acid phosphorylation|inhibition of protein amino acid phosphorylation owl:Class GO:0006468 biolink:NamedThing protein phosphorylation The process of introducing a phosphate group on to a protein. tmpak2llvmy_mondo_relaxed.owl protein amino acid phosphorylation owl:Class MONDO:0014516 biolink:NamedThing microcephaly and chorioretinopathy 2 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene. tmpak2llvmy_mondo_relaxed.owl MCCRP2|PLK4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy type 2|microcephaly and chorioretinopathy caused by mutation in PLK4|microcephaly and chorioretinopathy, autosomal recessive, 2|microcephaly and chorioretinopathy, autosomal recessive, type 2 OMIM:616171|DOID:0080106|UMLS:C4015388 owl:Class HGNC:11397 biolink:NamedThing PLK4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003406 biolink:NamedThing cartilage of respiratory system A cartilage element that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl apparatus respiratorius cartilage|cartilage of apparatus respiratorius|respiratory system cartilage owl:Class MONDO:0024561 biolink:NamedThing vitelliform macular dystrophy 3 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpak2llvmy_mondo_relaxed.owl macular dystrophy, vitelliform, 3|vitelliform macular dystrophy, adult-onset|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization|foveomacular dystrophy, adult-onset|PRPH2 vitelliform macular dystrophy|vitelliform macular dystrophy caused by mutation in PRPH2|VMD3 OMIM:608161 owl:Class UBERON:0035839 biolink:NamedThing esophagogastric junction submucosa submucosa from the lowest portion of the esophagus, just proximal to the stomach. tmpak2llvmy_mondo_relaxed.owl gastro-esophageal junction submucosa owl:Class UBERON:0007650 biolink:NamedThing esophagogastric junction The junction between the esophagus and the stomach epithelium tmpak2llvmy_mondo_relaxed.owl gastroesophageal junction|esophagogastric junction|esophageal sphincter|squamocolumnar junction between esophagus and stomach|cardioesophageal junction|GEJ owl:Class HGNC:11998 biolink:NamedThing TP53 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007973 biolink:NamedThing mental and growth retardation with amblyopia tmpak2llvmy_mondo_relaxed.owl mental and growth retardation with amblyopia MESH:C563591|UMLS:C1835028|OMIM:156190 owl:Class HGNC:4446 biolink:NamedThing GPAA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100261 biolink:NamedThing peroxisome biogenesis disorder due to PEX3 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene. tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX3 defect|PEX3 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:8858 biolink:NamedThing PEX3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0034103 biolink:NamedThing regulation of tissue remodeling Any process that modulates the frequency, rate, or extent of tissue remodeling. tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:9001334 biolink:NamedThing exposure to primary alcohol An exposure to primary alcohol. tmpak2llvmy_mondo_relaxed.owl exposure to primary alcohol owl:Class MONDO:0002868 biolink:NamedThing bile duct mucinous cystic neoplasm with an associated invasive carcinoma A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. tmpak2llvmy_mondo_relaxed.owl cystadenocarcinoma of bile duct|bile duct cystadenocarcinoma (morphologic abnormality)|bile duct mucinous cystic neoplasm with an associated invasive carcinoma|biliary cystadenocarcinoma|bile duct cystadenocarcinoma|cystadenocarcinoma of the bile duct ICDO:8161/3|DOID:4075|UMLS:C0334286|NCIT:C4130 Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component owl:Class MONDO:0001129 biolink:NamedThing nasal cavity olfactory neuroblastoma An olfactory neuroblastoma arising in the nasal cavity. tmpak2llvmy_mondo_relaxed.owl olfactory neuroblastoma of nasal cavity|olfactory neuroblastoma of the nasal cavity|nasal cavity olfactory neuroblastoma NCIT:C7604|DOID:10812|UMLS:C1334923 owl:Class MONDO:0019870 biolink:NamedThing distal trisomy 1p36 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. tmpak2llvmy_mondo_relaxed.owl telomeric duplication 1p36|trisomy 1pter|distal trisomy type 1p36|distal duplication 1p36 Orphanet:96069|SCTID:766053003|UMLS:CN244049|ICD10:Q92.3 owl:Class MONDO:0007734 biolink:NamedThing holoprosencephaly 4 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly caused by mutation in TGIF1|TGIF1 holoprosencephaly|holoprosencephaly 4|HPE4|holoprosencephaly type 4 OMIM:142946|NCIT:C75475|MESH:C564180|UMLS:C1840528|DOID:0110880 owl:Class HGNC:11776 biolink:NamedThing TGIF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011375 biolink:NamedThing skin of prepuce of clitoris A zone of skin that is part of a prepuce of clitoris. tmpak2llvmy_mondo_relaxed.owl preputial skin of clitoris owl:Class CHEBI:27594 biolink:NamedThing carbon atom tmpak2llvmy_mondo_relaxed.owl Kohlenstoff|carbone|6C|carbon|carbonium|C|Carbon|carbono owl:Class UBERON:0015329 biolink:NamedThing respiratory system basement membrane A basement membrane of epithelium that is part of a respiratory system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005534 biolink:NamedThing ileocolitis Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. tmpak2llvmy_mondo_relaxed.owl EFO:0005624|MedDRA:10062647|ICD10:K52.9|DOID:0060190|UMLS:C0949272 owl:Class MONDO:0001251 biolink:NamedThing chronic apical periodontitis Chronic form of periapical periodontitis. tmpak2llvmy_mondo_relaxed.owl chronic periapical periodontitis|periapical periodontitis, chronic UMLS:C0392492|SCTID:718052004|ICD10:K04.5|DOID:11269|ICD9:522.6 owl:Class MONDO:0021913 biolink:NamedThing aquagenic pruritus Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. tmpak2llvmy_mondo_relaxed.owl water-induced itching|aquagenic pruritus UMLS:C0406409|ICD9:698.8|GARD:0010278|SCTID:238695001 https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus owl:Class UBERON:0005991 biolink:NamedThing aortic valve anulus The fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps tmpak2llvmy_mondo_relaxed.owl anulus of aortic valve|fibrous ring of aortic valve|aortic valvar anulus|aortic anulus owl:Class MONDO:0010964 biolink:NamedThing epiphyseal dysplasia, multiple, 3 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, 3, with myopathy|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3|epiphyseal dysplasia multiple 3|EDM3|epiphyseal dysplasia, multiple, type 3|multiple epiphyseal dysplasia 3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 3 UMLS:C1832998|GARD:0009792|MESH:C535503|OMIM:600969|DOID:0070304 https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3 owl:Class HGNC:2219 biolink:NamedThing COL9A3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001215 biolink:NamedThing inferior mesenteric vein A blood vessel that drains blood from the large intestine that usually terminates when reaching the splenic vein, which goes on to form the portal vein with the superior mesenteric vein (SMV). Anatomical variations include the IMV draining into the confluence of the SMV and splenic vein and the IMV draining in the SMV. The IMV lies to the right of the similarly name artery, the inferior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena mesenterica inferior|lower mesenteric vein owl:Class ENVO:03000110 biolink:NamedThing cryoform A geographic feature which is primarily composed of a continuous mass of snow and/or ice. tmpak2llvmy_mondo_relaxed.owl owl:Class N6ed00affe8cb4434b3a1b41008194ddb biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019919 biolink:NamedThing maternal uniparental disomy of chromosome 22 tmpak2llvmy_mondo_relaxed.owl maternal uniparental disomy of chromosome type 22|UPD(22)mat Orphanet:96188|ICD10:Q99.8 owl:Class UBERON:0004492 biolink:NamedThing cardiac muscle tissue of cardiac septum A portion of cardiac muscle tissue that is part of a cardiac septum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac septum cardiac muscle tissue|cardiac septum myocardium|cardiac septum heart muscle|cardiac septum muscle owl:Class HP:0010528 biolink:NamedThing Prosopagnosia Inability to recognize faces of familiar persons. tmpak2llvmy_mondo_relaxed.owl Facial agnosia|Face blindness SNOMEDCT_US:18358003|MSH:D020238|UMLS:C0234512 peter 2009-09-20T11:45:49Z human_phenotype owl:Class MONDO:0023069 biolink:NamedThing enlarged vestibular aqueduct syndrome tmpak2llvmy_mondo_relaxed.owl enlarged vestibular aqueduct|enlarged vestibular aqueduct syndrome|large vestibular aqueduct syndrome DOID:0050332|GARD:0008651 https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome owl:Class MONDO:0010384 biolink:NamedThing hypospadias 1, X-linked tmpak2llvmy_mondo_relaxed.owl hypospadias 1, X-linked|HYSP1 OMIM:300633|UMLS:C2678098|MESH:C567482 owl:Class HGNC:644 biolink:NamedThing AR tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q21 biolink:NamedThing chr9q21 (Human) tmpak2llvmy_mondo_relaxed.owl 87800000 65000000 hg38 owl:Class UBERON:0010285 biolink:NamedThing midbrain basal plate Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. tmpak2llvmy_mondo_relaxed.owl basal plate midbrain|basal plate midbrain region owl:Class MONDO:0019173 biolink:NamedThing rabies Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. tmpak2llvmy_mondo_relaxed.owl lyssa ICD9:071|MedDRA:10037742|DOID:11260|Orphanet:770|ICD10:A82.9|MESH:D011818|ICD10:A82.1|GARD:0007516|ICD10:A82|ICD10:A82.0|NCIT:C28182|UMLS:C0034494|SCTID:14168008 https://rarediseases.info.nih.gov/diseases/7516/rabies owl:Class MONDO:0000336 biolink:NamedThing meningovascular neurosyphilis A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. tmpak2llvmy_mondo_relaxed.owl DOID:0050491 owl:Class MONDO:0011181 biolink:NamedThing fibrosis of extraocular muscles, congenital, 2 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene. tmpak2llvmy_mondo_relaxed.owl CFEOM2|Feom2 locus|fibrosis of extraocular muscles, congenital, type 2|PHOX2A congenital fibrosis of extraocular muscles|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, autosomal recessive|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A UMLS:C1865915|MESH:C566587|OMIM:602078 owl:Class HGNC:691 biolink:NamedThing PHOX2A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11367 biolink:NamedThing STAT5B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004919 biolink:NamedThing external urethral sphincter . tmpak2llvmy_mondo_relaxed.owl external sphincter of urethra|external urethral sphincter muscle|annulus urethralis|urethralis muscle|m. urethralis|urethralis|musculus sphincter urethrae membranaceae|external sphincter muscle of urethra owl:Class MONDO:0012503 biolink:NamedThing thiopurine S-methyltransferase deficiency An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. tmpak2llvmy_mondo_relaxed.owl inborn thiopurine S-methyltransferase activity disorder|thiopurine S-methyltransferase deficiency|thiopurine methyltransferase deficiency|poor metabolism of thiopurines-1|THPM1|inborn error of thiopurine S-methyltransferase activity|thiopurine S methyltranferase deficiency|TPMT deficiency|6-mercaptopurine sensitivity|rare inborn error of thiopurine S-methyltransferase activity|Thiopurines, poor metabolism of|Thiopurines, poor metabolism of, 1|thiopurines, poor metabolism of, 1 SCTID:238012003|OMIM:610460|Orphanet:3315|DOID:0080172|GARD:0005173|NCIT:C4389|MESH:C536512 owl:Class HGNC:12014 biolink:NamedThing TPMT tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000048 biolink:NamedThing ocean biome A marine biome which is determined by an ocean. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000015 biolink:NamedThing ocean A marine water body which is constitutes the majority of an astronomical body's hydrosphere. tmpak2llvmy_mondo_relaxed.owl ocean region|Ocean|ocean owl:Class MONDO:0013287 biolink:NamedThing agammaglobulinemia 2, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal agammaglobulinemia caused by mutation in IGLL1|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|agammaglobulinemia 2, autosomal recessive|lambda 5 deficiency|AGM2|IGLL1 autosomal agammaglobulinemia OMIM:613500|UMLS:C3150750|DOID:0060024 owl:Class HGNC:5870 biolink:NamedThing IGLL1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:22448 biolink:NamedThing NOBOX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013569 biolink:NamedThing short-rib thoracic dysplasia 7 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. tmpak2llvmy_mondo_relaxed.owl short rib-polydactyly syndrome, type 5|SRTD7|short rib-polydactyly syndrome type 5|SRPS5|short rib-polydactyly syndrom type V|short-rib thoracic dysplasia 7 with or without polydactyly DOID:0110090|OMIM:614091|Orphanet:498497|UMLS:C3279792|ICD10:Q77.2 owl:Class HGNC:29250 biolink:NamedThing WDR35 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001524 biolink:NamedThing frozen land Land which is below the freezing point of water. tmpak2llvmy_mondo_relaxed.owl frozen ground owl:Class N7ac106f176244e56b62fcb1716b6f117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0009235 biolink:NamedThing cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpak2llvmy_mondo_relaxed.owl cobalamin metabolism|vitamin B12 metabolism|vitamin B12 metabolic process|vitamin B12 reduction owl:Class N7bd136a2fd2e43e690a0604b47e8159f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013711 biolink:NamedThing peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome tmpak2llvmy_mondo_relaxed.owl peripheral neuropathy, myopathy, hoarseness, and hearing loss|peripheral neuropathy-myopathy-hoarseness-deafness syndrome|PNMHH Orphanet:397744|ICD10:G60.0|OMIM:614369|UMLS:C3280556 owl:Class HGNC:23212 biolink:NamedThing MYH14 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9936 biolink:NamedThing OPN1LW tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006911 biolink:NamedThing phagocytosis, engulfment The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. tmpak2llvmy_mondo_relaxed.owl phagosome formation|phagosome biosynthesis owl:Class UBERON:0009010 biolink:NamedThing periurethral tissue Any portion of tissue that surrounds a urethra. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000277 biolink:NamedThing smooth muscle fiber of jejunum A smooth muscle cell that is part of the jejunum. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of jejunum FMA:15062 cell owl:Class MONDO:0001381 biolink:NamedThing bladder lymphoma A lymphoma that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl lymphoma of urinary bladder|lymphoma of bladder|primary bladder lymphoma|lymphoma of the urinary bladder|urinary bladder lymphoma|lymphoma of the bladder UMLS:C1332561|DOID:11821|NCIT:C6164 owl:Class HGNC:3024 biolink:NamedThing DRD3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003122 biolink:NamedThing pharyngeal arch artery 5 The vessels formed within the fifth pair of pharyngeal arches in embryogenesis. tmpak2llvmy_mondo_relaxed.owl aortic arch 5|fifth aortic arch|AA5 owl:Class UBERON:0003116 biolink:NamedThing pharyngeal arch 5 tmpak2llvmy_mondo_relaxed.owl gill arch 3|5th visceral arch|branchial arch 3|fifth pharyngeal arch|third branchial arch|5th pharyngeal arch|fifth visceral arch|visceral arch 5 owl:Class GO:0003411 biolink:NamedThing cell motility involved in camera-type eye morphogenesis Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048608 biolink:NamedThing reproductive structure development The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061458 biolink:NamedThing reproductive system development The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012731 biolink:NamedThing elliptocytosis 1 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene. tmpak2llvmy_mondo_relaxed.owl EPB41 hereditary elliptocytosis|elliptocytosis type 1|Protein 4.1 of erythrocyte Membrane, defect of|4.1-minus trait|elliptocytosis, Rhesus-linked type|hereditary elliptocytosis caused by mutation in EPB41|EL1|elliptocytosis 1|4.1- trait MESH:C567520|UMLS:C2678497|OMIM:611804 owl:Class MONDO:0012873 biolink:NamedThing Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. tmpak2llvmy_mondo_relaxed.owl SCD-EDS|spondylocheirodysplasia, Ehlers-Danlos syndrome-like|EDS, spondylocheirodysplastic type|Ehlers-Danlos syndrome, spondylodysplastic type, 3|EDSSPD3 MESH:C567340|Orphanet:157965|OMIM:612350|UMLS:C2676510|ICD10:Q79.6 owl:Class HGNC:20859 biolink:NamedThing SLC39A13 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021537 biolink:NamedThing undifferentiated carcinoma of nasopharynx A undifferentiated carcinoma that involves the nasopharynx. tmpak2llvmy_mondo_relaxed.owl nasopharyngeal nonkeratinizing undifferentiated carcinoma|lymphoepithelioma of nasopharynx|nasopharyngeal undifferentiated carcinoma|nasopharyngeal lymphoepithelioma|undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|nasopharynx undifferentiated carcinoma NCIT:C8023|UMLS:C0279748|SCTID:422541001 owl:Class HGNC:11362 biolink:NamedThing STAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0037191 biolink:NamedThing wall of membranous labyrinth tmpak2llvmy_mondo_relaxed.owl membranous labyrinth wall owl:Class MONDO:0006215 biolink:NamedThing gallbladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the gall bladder. tmpak2llvmy_mondo_relaxed.owl gallbladder adenocarcinoma|gall bladder adenocarcinoma|adenocarcinoma of gallbladder|adenocarcinoma of the gallbladder DOID:3500|NCIT:C9166|UMLS:C0279651|EFO:1000262 owl:Class MONDO:0015024 biolink:NamedThing ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. tmpak2llvmy_mondo_relaxed.owl ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|KDF1 ectodermal dysplasia syndrome|ectodermal dysplasia syndrome caused by mutation in KDF1 UMLS:C4310616|OMIM:617337|DOID:0111652 owl:Class HGNC:7473 biolink:NamedThing MTRR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009612 biolink:NamedThing methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria, mut(0) type|methylmalonyl-CoA mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia|MCM deficiency|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria mut type|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonyl-Coenzyme A mutase deficiency|methylmalonic aciduria, mut(-) type|methylmalonic aciduria, mut type NCIT:C148366|ICD10:E71.1|DOID:0060740|GARD:0003586|UMLS:C1855114|OMIM:251000|Orphanet:27 owl:Class HGNC:7526 biolink:NamedThing MMUT tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0004332 biolink:NamedThing Abnormal lymphocyte morphology An abnormality of lymphocytes. tmpak2llvmy_mondo_relaxed.owl Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage UMLS:C0427546|SNOMEDCT_US:250284007 A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. peter 2008-02-28T06:46:00Z HP:0012140|HP:0001887 human_phenotype owl:Class GO:0071375 biolink:NamedThing cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpak2llvmy_mondo_relaxed.owl cellular response to polypeptide hormone stimulus owl:Class MONDO:0008618 biolink:NamedThing mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. tmpak2llvmy_mondo_relaxed.owl Reinhardt-Pfeiffer syndrome|Reinhardt-Pfeiffer mesomelic dysplasia|hypoplasia of ulna and fibula|mesomelic dysplasia Reinhardt-Pfeiffer type|mesomelic dwarfism of hypoplastic ulna and fibula type|ulna and fibula, hypoplasia OF Orphanet:2634|OMIM:191400|SCTID:715472000|ICD10:Q78.8|MESH:C537349|UMLS:C1860616|GARD:0003555 owl:Class MONDO:0019243 biolink:NamedThing inborn disorder of energy metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. tmpak2llvmy_mondo_relaxed.owl rare inborn error of generation of precursor metabolites and energy|inborn generation of precursor metabolites and energy disorder|disorder of energy metabolism|inborn error of generation of precursor metabolites and energy Orphanet:79200|UMLS:CN227604 owl:Class MONDO:0017406 biolink:NamedThing hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome UMLS:CN203156|Orphanet:293967 owl:Class MONDO:0015698 biolink:NamedThing transient hypogammaglobulinemia of infancy A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. tmpak2llvmy_mondo_relaxed.owl transient hypogammaglobulinemia of infancy|THI MedDRA:10044388|UMLS:C0272238|ICD10:D80.7|ICD9:279.09|Orphanet:169139|SCTID:88714009|NCIT:C27071|DOID:624 owl:Class NCBITaxon:117570 biolink:NamedThing Teleostomi tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035819 biolink:NamedThing abdominopelvic cavity The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. tmpak2llvmy_mondo_relaxed.owl cavitas abdominis et pelvis owl:Class HGNC:7498 biolink:NamedThing MT-TS2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6155 biolink:NamedThing ITGB2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:426438 biolink:NamedThing Hyalomminae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017154 biolink:NamedThing pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. tmpak2llvmy_mondo_relaxed.owl Portopulmonary hypertension|POPH|PAH associated with portal hypertension 2022-03-01 UMLS:C1868851|EFO:0009197|Orphanet:275813|ICD10:I27.2|SCTID:445237003 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class CL:0002106 biolink:NamedThing IgD-positive CD38-positive IgG memory B cell An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002105 biolink:NamedThing CD38-positive IgG memory B cell A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive. tmpak2llvmy_mondo_relaxed.owl CD38-positive IgG memory B lymphocyte|CD38-positive IgG memory B-cell|CD38+ IgG memory B cell|CD38+ IgG memory B-cell|CD38+ IgG memory B-lymphocyte|CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B lymphocyte cell owl:Class UBERON:0004224 biolink:NamedThing muscular coat of vas deferens A muscular coat that is part of a vas deferens [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle layer of deferent duct|muscle layer of vas deferens|muscle layer of ductus deferens|muscular layer of ductus deferens|muscularis of vas deferens|muscular coat of ductus deferens|tunica muscularis ductus deferentis|tunica muscularis (ductus deferens) owl:Class MONDO:0060456 biolink:NamedThing cerebral sclerosis, diffuse, scholz type tmpak2llvmy_mondo_relaxed.owl cerebral sclerosis, diffuse, scholz type OMIM:302700|MESH:C564449 owl:Class MONDO:0007789 biolink:NamedThing hypertrophia musculorum vera tmpak2llvmy_mondo_relaxed.owl hypertrophia musculorum vera UMLS:C1840361|OMIM:145800|MESH:C564152 owl:Class GO:0071345 biolink:NamedThing cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045117 biolink:NamedThing azole transmembrane transport The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane. tmpak2llvmy_mondo_relaxed.owl azole transport owl:Class MONDO:0012075 biolink:NamedThing oligodontia-cancer predisposition syndrome tmpak2llvmy_mondo_relaxed.owl oligodontia-colorectal cancer syndrome|ODCRCS|autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|oligodontia-cancer predisposition syndrome|tooth agenesis-colorectal cancer syndrome OMIM:608615|Orphanet:300576|MESH:C563898|UMLS:C1837750 owl:Class MONDO:0009447 biolink:NamedThing ichthyosis, split hairs, and amino aciduria tmpak2llvmy_mondo_relaxed.owl ichthyosis, split hairs, and amino aciduria OMIM:242550|UMLS:C1855786|MESH:C565471 owl:Class MONDO:0044714 biolink:NamedThing mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome tmpak2llvmy_mondo_relaxed.owl mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome|MMYAT|myopathy, mitochondrial, and ataxia Orphanet:502423|OMIM:617675|UMLS:CN484737 owl:Class MONDO:0033543 biolink:NamedThing cone-rod synaptic disorder syndrome, congenital nonprogressive tmpak2llvmy_mondo_relaxed.owl CRSDS|CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE OMIM:618970 owl:Class GO:1905082 biolink:NamedThing regulation of mitochondrial translational elongation Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrial translation elongation owl:Class MONDO:0007874 biolink:NamedThing trichorhinophalangeal syndrome type II Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl chromosome 8Q24.1 deletion syndrome|TRPS 2|trichorhinophalangeal syndrome, type 2|trichorhinophalangeal syndrome type 2|Langer-Giedion syndrome|trichorhinophalangeal dysplasia type II|Giedion-Langer syndrome|TRPS2|deletion 8q24.1|monosomy 8q24.1|Langer Giedion syndrome|trichorhinophalangeal syndrome, type II Orphanet:502|ICD9:759.89|SCTID:41069008|OMIM:150230|GARD:0007801|MedDRA:10050638|ICD10:Q87.8|NCIT:C75118|DOID:4998|UMLS:C0023003|MESH:D015826 owl:Class HP:0041051 biolink:NamedThing Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. tmpak2llvmy_mondo_relaxed.owl Absent sense of taste|Impaired taste sensation|Lost taste http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class HP:0000223 biolink:NamedThing Abnormality of taste sensation tmpak2llvmy_mondo_relaxed.owl Abnormality of taste sensation UMLS:C4025879 human_phenotype owl:Class MONDO:0012992 biolink:NamedThing pancreatic insufficiency-anemia-hyperostosis syndrome This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. tmpak2llvmy_mondo_relaxed.owl exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis|pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome SCTID:722207000|UMLS:C2675184|UMLS:C4302747|Orphanet:199337|MESH:C567195|OMIM:612714 owl:Class MONDO:0009068 biolink:NamedThing cytochrome-c oxidase deficiency disease A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex IV deficiency|Cox deficiency|cytochrome C oxidase deficiency|cytochrome-c oxidase deficiency disease|deficiency of mitochondrial respiratory chain complex4|Complex 4 mitochondrial respiratory chain deficiency|mitochondrial Complex 4 deficiency|Complex IV deficiency|isolated COX deficiency|isolated cytochrome C oxidase deficiency|cytochrome-C oxidase deficiency|isolated mitochondrial respiratory chain complex IV deficiency|COX deficiency GARD:0000048|UMLS:C0268237|OMIM:220110|ICD10:E88.8|MESH:D030401|SCTID:67434000|DOID:3762|Orphanet:254905|NCIT:C98910 owl:Class MONDO:0009020 biolink:NamedThing macular corneal dystrophy Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. tmpak2llvmy_mondo_relaxed.owl Mcdc1|macular corneal dystrophy|macular corneal dystrophy type 1|Groenouw type II corneal dystrophy|MCD|macular dystrophy, corneal, 1|macular dystrophy, corneal|macular dystrophy, corneal type 1|Mcdc1, formerly|corneal dystrophy, macular type|corneal dystrophy Groenouw type II|macular corneal dystrophy, type 1|macular corneal dystrophy, type 2|Groenouw type 2 corneal dystrophy|Fehr corneal dystrophy UMLS:C0024439|NCIT:C34793|Orphanet:98969|SCTID:60258001|OMIM:217800|GARD:0006953|ICD10:H18.5|MESH:C537834|MedDRA:10025406|DOID:2565|ICD10:H18.55|ICD9:371.55 owl:Class OBO:CHR_9606-chr8p11 biolink:NamedThing chr8p11 (Human) tmpak2llvmy_mondo_relaxed.owl 45200000 36700000 hg38 owl:Class NCBITaxon:31244 biolink:NamedThing Schistosomatoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6180 biolink:NamedThing Strigeidida tmpak2llvmy_mondo_relaxed.owl Strigeida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012408 biolink:NamedThing microphthalmia, isolated, with coloboma 3 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene. tmpak2llvmy_mondo_relaxed.owl VSX2 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 3|microphthalmia, isolated, with coloboma type 3|microphthalmia, colobomatous, isolated 3|microphthalmia, cataracts, and iris abnormalities|MCOPCB3|microphthalmia, isolated, with coloboma caused by mutation in VSX2 UMLS:C1864721|OMIM:610092 owl:Class UBERON:0005113 biolink:NamedThing metanephric cortex mesenchyme tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0012276 biolink:NamedThing endometrium glandular epithelium tmpak2llvmy_mondo_relaxed.owl glandular part of endometrium|uterine glands set|uterine glands owl:Class MONDO:0012406 biolink:NamedThing hyperparathyroidism 3 tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism 3|hyperparathyroidism, familial isolated|HRPT3 UMLS:C1864729|MESH:C566450|OMIM:610071 owl:Class MONDO:0001527 biolink:NamedThing conjugate gaze palsy tmpak2llvmy_mondo_relaxed.owl palsy of conjugate gaze SCTID:1534008|UMLS:C0702143|ICD9:378.81|DOID:12445 owl:Class ENVO:01000231 biolink:NamedThing lava Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032875 biolink:NamedThing short stature and microcephaly with genital anomalies tmpak2llvmy_mondo_relaxed.owl SSMGA|SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES OMIM:618702 owl:Class MONDO:0006398 biolink:NamedThing retroperitoneal inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpak2llvmy_mondo_relaxed.owl retroperitoneal inflammatory myofibroblastic tumor|retroperitoneal space inflammatory myofibroblastic tumor NCIT:C39741|UMLS:C1514921|EFO:1000510 owl:Class MONDO:0017848 biolink:NamedThing partial deletion of the short arm of chromosome 12 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 12p|partial monosomy of the short arm of chromosome 12|partial deletion of the short arm of chromosome type 12|partial monosomy of chromosome 12p 2021-01-01 MESH:C538302|Orphanet:316244|ICD10:Q93.5 Reason: duplicate. This will be merged with MONDO:0022174 chromosome 12p deletion owl:Class HGNC:21698 biolink:NamedThing RNF216 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051355 biolink:NamedThing proprioception involved in equilibrioception The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpak2llvmy_mondo_relaxed.owl equilibrioception by proprioception|proprioception during equilibrioception|perception of orientation with respect to gravity by proprioception owl:Class UBERON:0004518 biolink:NamedThing muscle of vertebral column A muscle that is attached to a vertebra of the vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral column muscle owl:Class UBERON:0004258 biolink:NamedThing back blood vessel A blood vessel that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of back owl:Class MONDO:0016386 biolink:NamedThing hypogonadotropic hypogonadism-retinitis pigmentosa syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. tmpak2llvmy_mondo_relaxed.owl Chang-Davidson-Carlson syndrome UMLS:C2931722|Orphanet:2235|MESH:C538075 owl:Class MONDO:0010574 biolink:NamedThing syndromic X-linked intellectual disability 5 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic 5|MRXS5|X-linked mental retardation 59|intellectual disability, X-linked, syndromic, fried type|intellectual disability, X-linked 59|mental retardation X-linked syndromic 5|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|mental retardation, X-linked, syndromic, fried type|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|mental retardation, X-linked syndromic 5|PGS|intellectual disability, X-linked, syndromic 21|syndromic X-linked mental retardation 21|syndromic X-linked intellectual disability 21|Pettigrew syndrome|syndromic X-linked intellectual disability fried type|X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked 59|mental retardation, X-linked, syndromic 5|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|syndromic X-linked mental retardation fried type|mental retardation, X-linked, syndromic 21|MRXS21|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|MRX59|intellectual disability, X-linked syndromic 5|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|PETTIGREW syndrome|fried syndrome|syndromic X-linked intellectual disability type 5|X-linked intellectual disability 59|intellectual disability X-linked syndromic 5|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures Orphanet:85329|UMLS:C0796254|DOID:0060800|NCIT:C124839|ICD10:Q87.8|ICD10:Q23.8|OMIM:304340|GARD:0008520|UMLS:CN206181|Orphanet:1568|SCTID:719139003 Editor note: check relationship to friend syndrome owl:Class UBERON:0003574 biolink:NamedThing elbow connective tissue A portion of connective tissue that is part of a elbow [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl textus connectivus of cubital region|connective tissue of cubital region|connective tissue of elbow owl:Class HGNC:18127 biolink:NamedThing TUBGCP6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009260 biolink:NamedThing ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleotide anabolism|ribonucleotide formation|ribonucleotide biosynthesis|ribonucleotide synthesis owl:Class MONDO:0014648 biolink:NamedThing Al-Raqad syndrome tmpak2llvmy_mondo_relaxed.owl ARS|Al-Raqad syndrome|AL-RAQAD syndrome OMIM:616459|UMLS:C4085595 owl:Class OBO:CHR_9606-chr3p25.3 biolink:NamedThing chr3p25.3 (Human) tmpak2llvmy_mondo_relaxed.owl 11600000 8100000 hg38 owl:Class MONDO:0011166 biolink:NamedThing lymphedema-atrial septal defects-facial changes syndrome Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl lymphedema, atrial septal defect, and characteristic facial changes|Irons-Bhan syndrome|Irons-Bianchi syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|lymphedema, CARDIAC septal defects, and characteristic facies|Irons Bhan syndrome|lymphedema, atrial septal defect, and characteristic facies GARD:0000284|ICD10:Q87.8|MESH:C535539|SCTID:721978002|Orphanet:86915|MESH:C567398|OMIM:601927 https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome owl:Class MONDO:0015490 biolink:NamedThing predominantly small-vessel vasculitis tmpak2llvmy_mondo_relaxed.owl Orphanet:156146 owl:Class GO:0050864 biolink:NamedThing regulation of B cell activation Any process that modulates the frequency, rate or extent of B cell activation. tmpak2llvmy_mondo_relaxed.owl regulation of B lymphocyte activation|regulation of B-lymphocyte activation|regulation of B-cell activation owl:Class MONDO:0015522 biolink:NamedThing situs ambiguus tmpak2llvmy_mondo_relaxed.owl incomplete situs inversus|partial situs inversus|situs ambiguous SCTID:14821001|MedDRA:10059119|Orphanet:157769|ICD10:Q89.3|GARD:0010875 owl:Class MONDO:0033671 biolink:NamedThing spermatogenic failure 45 tmpak2llvmy_mondo_relaxed.owl SPGF45 OMIM:619094 owl:Class MONDO:0020763 biolink:NamedThing Menke-Hennekam syndrome 1 tmpak2llvmy_mondo_relaxed.owl Menke-Hennekam syndrome 1|MKHK1 OMIM:618332 owl:Class MONDO:0020774 biolink:NamedThing Menke-Hennekam syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:592574|OMIMPS:618332 owl:Class MONDO:0013096 biolink:NamedThing glioma susceptibility 7 tmpak2llvmy_mondo_relaxed.owl glioma susceptibility 7|GLM7 OMIM:613032 owl:Class MONDO:0013378 biolink:NamedThing orofacial cleft 10 Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. tmpak2llvmy_mondo_relaxed.owl SUMO1 orofacial cleft|cleft lip with or without cleft palate, nonsyndromic, 10|orofacial cleft type 10|orofacial cleft 10|OFC10|orofacial cleft caused by mutation in SUMO1 OMIM:613705|MESH:C566605|DOID:0080403 owl:Class MONDO:0025382 biolink:NamedThing sarcoma, avian Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. tmpak2llvmy_mondo_relaxed.owl Avian sarcoma|Rous sarcoma|sarcomas, Avian|Avian sarcomas|sarcoma, Rous MESH:D001357 owl:Class UBERON:0013069 biolink:NamedThing popliteal area A depression on the ventral side of the femur, at the knee joint, between the condyles. tmpak2llvmy_mondo_relaxed.owl popliteal space|popliteal fossa|popliteal region|knee pit owl:Class MONDO:0011223 biolink:NamedThing amyotrophic lateral sclerosis type 4 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. tmpak2llvmy_mondo_relaxed.owl SETX amyotrophic lateral sclerosis|distal hereditary motor neuropathy with upper motor neuron signs|ALS 4|amyotrophic lateral sclerosis caused by mutation in SETX|amyotrophic lateral sclerosis 4, juvenile|distal hereditary motor neuropathy with pyramidal features|neuronopathy, distal hereditary motor, with pyramidal features|amyotrophic lateral sclerosis 4|dHMN with upper motor neuron signs|ALS4 OMIM:602433|ICD10:G12.2|UMLS:C1865409|MESH:C566550|GARD:0010502|DOID:0060196|Orphanet:357043 https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 owl:Class MONDO:0009144 biolink:NamedThing Ebstein anomaly Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. tmpak2llvmy_mondo_relaxed.owl Ebstein anomaly|Ebstein's anomaly of right atrioventricular valve|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly of common atrioventricular valve|Ebstein's malformation|Ebstein malformation|Ebstein's anomaly|Ebstein's anomaly (disorder) [ambiguous]|Ebstein anomaly of the tricuspid valve|Ebstein anomaly (disease) Ebstein anomaly (disease) ICD9:746.2|DOID:14289|GARD:0006313|MESH:D004437|Orphanet:1880|ICD10:Q22.5|NCIT:C84681|OMIM:224700|EFO:0007244|MedDRA:10014075|UMLS:C0013481 owl:Class MONDO:0009826 biolink:NamedThing PA polymorphism of alpha-2-globulin tmpak2llvmy_mondo_relaxed.owl PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa OMIM:260100 owl:Class MONDO:0002234 biolink:NamedThing vaginitis A non-infectious or infectious inflammatory process affecting the vagina. tmpak2llvmy_mondo_relaxed.owl vaginitis (disease)|vaginitis|vaginal Inflammation|vagina inflammation|vaginal inflammation|inflammation of vagina vaginitis (disease) UMLS:C0042267|MESH:D014627|ICD9:616.1|ICD9:616.10|EFO:0005757|DOID:2170|SCTID:30800001|HP:0030683|NCIT:C26911 owl:Class MONDO:0010960 biolink:NamedThing protocadherin 3 tmpak2llvmy_mondo_relaxed.owl protocadherin type 3|Pcdh3|protocadherin 3 OMIM:600931 owl:Class CHEBI:50523 biolink:NamedThing butenolide A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives. tmpak2llvmy_mondo_relaxed.owl furan-2-one|butenolides|2-furanone owl:Class MONDO:0010284 biolink:NamedThing Armfield syndrome X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. tmpak2llvmy_mondo_relaxed.owl Armfield X-linked mental retardation syndrome|syndromic X-linked intellectual disability Armfield type|intellectual disability syndrome, X-linked, Armfield type|MRXSA|X-linked intellectual disability, Armfield type|mental retardation, X-linked, syndromic, Armfield type|Armfield X-linked intellectual disability syndrome|syndromic X-linked mental retardation Armfield type|mental retardation syndrome, X-linked, Armfield type|Armfield syndrome|intellectual disability, X-linked, syndromic, Armfield type Orphanet:85276|DOID:0050764|OMIM:300261|MESH:C564551|UMLS:C1846057|SCTID:719017003|ICD10:Q87.8 owl:Class MONDO:0017984 biolink:NamedThing familial lambdoid synostosis Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. tmpak2llvmy_mondo_relaxed.owl craniosynostosis, lambdoidal|lambdoid synostosis UMLS:CN204142|SCTID:766884000|ICD10:Q75.0|GARD:0003168|Orphanet:3267 owl:Class MONDO:0005220 biolink:NamedThing collecting duct carcinoma A carcinoma that arises from epithelial cells of the collecting duct of renal tubule tmpak2llvmy_mondo_relaxed.owl Bellini duct carcinoma|Bellini carcinoma|carcinoma of collecting ducts of Bellini|carcinoma of collecting duct of renal tubule|carcinoma of the kidney collecting duct|carcinoma of the collecting ducts of Bellini|renal collecting duct carcinoma|Bellini’s duct carcinoma|collecting duct carcinoma of the kidney|carcinoma of kidney collecting duct|cDC|collecting duct renal cancer|renal carcinoma, collecting duct type|carcinoma of renal collecting duct|renal medullary carcinoma|collecting duct carcinoma|BDC|kidney collecting duct carcinoma|carcinoma of the renal collecting duct|collecting duct renal cell carcinoma|collecting duct of renal tubule carcinoma NCIT:C6194|Orphanet:247203|GARD:0009573|DOID:4464|ONCOTREE:CDRCC|UMLS:C1266044|ICDO:8319/3|ICD10:C64|EFO:0003016 owl:Class MONDO:0011178 biolink:NamedThing infantile convulsions and choreoathetosis Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. tmpak2llvmy_mondo_relaxed.owl ICCA syndrome|Icca syndrome|convulsions, infantile, with paroxysmal choreoathetosis, familial|ICCA|paroxysmal kinesigenic dyskinesia with infantile convulsions|infantile convulsions and paroxysmal choreoathetosis, familial|PKD/IC|paroxysmal kinesigenic dyskinesia and infantile convulsions|convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and choreoathetosis ICD10:G40.4|NCIT:C126650|MESH:C535522|UMLS:C1865926|Orphanet:31709|GARD:0008553|SCTID:715534008|OMIM:602066 owl:Class HP:0012719 biolink:NamedThing Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl GI dysfunction|Functional abnormality of the GI tract UMLS:C4022755 peter 2014-03-23T01:10:47Z human_phenotype owl:Class HP:0025032 biolink:NamedThing Abnormality of digestive system physiology A functional anomaly of the digestive system. tmpak2llvmy_mondo_relaxed.owl 2016-08-27 13:58:05+00:00 HPO:probinson human_phenotype owl:Class MONDO:0009803 biolink:NamedThing congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta congenita, microcephaly, and cataracts UMLS:C1850184|OMIM:259410|ICD10:Q78.0|Orphanet:2772|MESH:C537558 owl:Class MONDO:0016098 biolink:NamedThing immune-mediated necrotizing myopathy Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. tmpak2llvmy_mondo_relaxed.owl anti-HMG-CoA myopathy|IMNM|anti-SRP myopathy|NAM|immune myopathy with myocyte necrosis|necrotizing autoimmune myopathy|autoimmune necrotizing myositis SCTID:715863001|GARD:0013307|ICD10:G72.4|Orphanet:206569 owl:Class GO:0045915 biolink:NamedThing positive regulation of catecholamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpak2llvmy_mondo_relaxed.owl stimulation of catecholamine metabolic process|activation of catecholamine metabolic process|positive regulation of catecholamine metabolism|upregulation of catecholamine metabolic process|up regulation of catecholamine metabolic process|up-regulation of catecholamine metabolic process owl:Class HGNC:24338 biolink:NamedThing C1GALT1C1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021681 biolink:NamedThing sexually transmitted disease A Disease due to or propagated by sexual contact. tmpak2llvmy_mondo_relaxed.owl Transmitted infections, sexually|VD, venereal disease|disease (VD), venereal|sexually Transmitted infections|infection, sexually Transmitted|Transmitted infection, sexually|STD|disease, sexually Transmitted|sexually transmitted disease|venereal disease|diseases, sexually Transmitted|sexually Transmitted infection|venereal diseases|infections, sexually Transmitted|venereal disease (VD)|sexually Transmitted disorder|VD|STI|STDs|disease, venereal|diseases, venereal|STIs ICD10:A50.A64|MESH:D012749|SCTID:8098009|ICD9:099.8|ICD9:099.9|NCIT:C3365|UMLS:C0036916 owl:Class MONDO:0023101 biolink:NamedThing facio digito genital syndrome recessive form tmpak2llvmy_mondo_relaxed.owl GARD:0002226 https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form owl:Class MONDO:0014537 biolink:NamedThing nephronophthisis 19 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. tmpak2llvmy_mondo_relaxed.owl DCDC2 nephronophthisis (disease)|nephronophthisis type 19|NPHP19|nephronophthisis 19|nephronophthisis (disease) caused by mutation in DCDC2 OMIM:616217|UMLS:C4015542|DOID:0111126 owl:Class GO:0051726 biolink:NamedThing regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle. tmpak2llvmy_mondo_relaxed.owl control of cell cycle progression|regulation of cell cycle arrest|regulation of progression through cell cycle|mitotic cell cycle arrest|negative regulation of cell cycle arrest|regulation of cell cycle progression|cell cycle arrest|cell cycle modulation|tumor suppressor|modulation of cell cycle progression|cell cycle regulator|cell cycle regulation|arrest of mitotic cell cycle progression|positive regulation of cell cycle arrest owl:Class MONDO:0017703 biolink:NamedThing disorder of glyoxylate metabolism tmpak2llvmy_mondo_relaxed.owl disorder of glyoxylate metabolism Orphanet:308998|UMLS:CN227177 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0018395 biolink:NamedThing male infertility due to sperm motility disorder tmpak2llvmy_mondo_relaxed.owl Male infertility due to asthenozoospermia 2022-03-01 UMLS:CN227341|Orphanet:399813|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0011052 biolink:NamedThing amelia cleft lip palate hydrocephalus iris coloboma tmpak2llvmy_mondo_relaxed.owl bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects and facial clefts|ACLH|brachial amelia, forebrain defects, and Facial clefts|brachial AMELIA, cleft LIP, and holoprosencephaly|amelia cleft lip palate hydrocephalus iris coloboma GARD:0000388|OMIM:601357|GARD:0000641|UMLS:C1832434|MESH:C536713 https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma owl:Class MONDO:0008992 biolink:NamedThing Juberg-Hayward syndrome Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl cleft lip/palate-abnormal thumbs-microcephaly syndrome|Juberg-Hayward syndrome|cleft LIP/palate with abnormal thumbs and microcephaly|JHS|Orocraniodigital syndrome ICD10:Q87.0|Orphanet:2319|SCTID:721874001|GARD:0003060|UMLS:C0796099|MESH:C537690|OMIM:216100 https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome owl:Class UBERON:0002040 biolink:NamedThing bronchial artery A systemic artery that supplies the lung with with oxygenated blood. tmpak2llvmy_mondo_relaxed.owl bronchial arterial tree|arteriae bronchiales|rami bronchiales partis thoracicae aortae owl:Class CHEBI:33702 biolink:NamedThing polyatomic cation A cation consisting of more than one atom. tmpak2llvmy_mondo_relaxed.owl polyatomic cations owl:Class NCBITaxon:2497574 biolink:NamedThing Monjiviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497570 biolink:NamedThing Haploviricotina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006855 biolink:NamedThing mesenteric vascular occlusion Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) tmpak2llvmy_mondo_relaxed.owl UMLS:C0025472|EFO:1001043|DOID:13252|MESH:D008641|MedDRA:10074583 owl:Class MONDO:0013954 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|MSMD due to complete interleukin 12B deficiency|MSMD due to complete IL12B deficiency|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IL12B deficiency|immunodeficiency type 29|IMD29|immunodeficiency 29|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency UMLS:C4013948|ICD10:D84.8|Orphanet:319558|OMIM:614890 owl:Class MONDO:0043164 biolink:NamedThing palmer pagon syndrome tmpak2llvmy_mondo_relaxed.owl familial hydrocephalus with a low-insertion umbilicus|hydrocephaly - low insertion umbilicus MESH:C538107|GARD:0004199|Orphanet:2184|UMLS:C2931734 owl:Class MONDO:0001150 biolink:NamedThing hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. tmpak2llvmy_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive|hydrocephalus, X-linked SCTID:230745008|ICD10:G91|DOID:10908|MESH:D006849|NCIT:C3111|ICD10:G91.9 owl:Class HGNC:14450 biolink:NamedThing LPIN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0040925 biolink:NamedThing latent yaws tmpak2llvmy_mondo_relaxed.owl latent yaws SCTID:186973005|UMLS:C0153240 owl:Class MONDO:0044789 biolink:NamedThing digital papillary eccrine carcinoma An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs. tmpak2llvmy_mondo_relaxed.owl digit papillary eccrine carcinoma|digital papillary eccrine carcinoma|papillary digital eccrine carcinoma|papillary eccrine carcinoma of digit|digital papillary carcinoma|digital papillary carcinoma of skin NCIT:C27534 owl:Class MONDO:0016921 biolink:NamedThing partial duplication of chromosome 1 tmpak2llvmy_mondo_relaxed.owl partial trisomy of chromosome 1|partial duplication of chromosome type 1 SCTID:726338000|Orphanet:262191 owl:Class MONDO:0003663 biolink:NamedThing uterine ligament endometrioid adenocarcinoma A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis. tmpak2llvmy_mondo_relaxed.owl uterine ligament endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine ligament NCIT:C40138|DOID:5829|UMLS:C1519868 owl:Class CL:0009022 biolink:NamedThing stromal cell of lamina propria of small intestine A stromal cell found in the lamina propria of the small intestine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019130 biolink:NamedThing tubular renal disease-cardiomyopathy syndrome A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl Orphanet:73224|UMLS:CN205654|ICD10:N25.8 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0043339 biolink:NamedThing lathyrism A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. tmpak2llvmy_mondo_relaxed.owl lathyrism|Neurolathyrism|Lathyrus species poisoning|vetchling poisoning GARD:0010441|MESH:D007842|SCTID:5724005|EFO:1001776 owl:Class UBERON:0035651 biolink:NamedThing glans tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012347 biolink:NamedThing hamartoma, Precalcaneal congenital fibrolipomatous tmpak2llvmy_mondo_relaxed.owl Pcfh|hamartoma, Precalcaneal congenital fibrolipomatous OMIM:609808|MESH:C565226|UMLS:C1853298 owl:Class MONDO:0007112 biolink:NamedThing interventricular septum aneurysm Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. tmpak2llvmy_mondo_relaxed.owl aneurysm of interventricular septum ICD10:Q21.0|UMLS:C1387721|OMIM:105805|MESH:C563239|Orphanet:99092 owl:Class UBERON:0005154 biolink:NamedThing epithelial cord A cord of epithelial cells without a lumen and usually several cells thick. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009542 biolink:NamedThing lysine malabsorption syndrome tmpak2llvmy_mondo_relaxed.owl lysine malabsorption syndrome MESH:C563080|UMLS:C0796023|OMIM:247950 owl:Class CL:0000306 biolink:NamedThing crystallin accumulating cell tmpak2llvmy_mondo_relaxed.owl lens cell FBbt:00004193 cell owl:Class MONDO:0043892 biolink:NamedThing prosthesis-related infectious disease A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread. tmpak2llvmy_mondo_relaxed.owl prosthesis-related infection|infections, prosthesis-related|prosthesis related infections|device related infection EFO:1002021|MESH:D016459|NCIT:C79705 owl:Class MONDO:0011881 biolink:NamedThing keratosis palmoplantaris striata 3 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. tmpak2llvmy_mondo_relaxed.owl keratosis palmoplantaris striata III|keratoderma palmoplantar striate form 3|keratosis palmoplantaris striata type 3|striate palmoplantar keratoderma 3|KRT1 striate palmoplantar keratoderma|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma, palmoplantar, striate form 3|PPKS3 GARD:0009173|OMIM:607654|UMLS:C2931123|MESH:C536163 https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 owl:Class MONDO:0018865 biolink:NamedThing striate palmoplantar keratoderma Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. tmpak2llvmy_mondo_relaxed.owl keratosis palmoplantaris striata et areata|keratosis palmoplantaris striata|keratosis palmoplantaris varians of Wachters ICD10:Q82.8|Orphanet:50942|SCTID:764958008|UMLS:CN205191 owl:Class MONDO:0023704 biolink:NamedThing Martinez Monasterio Pinheiro syndrome A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations MESH:C536027|GARD:0003404|UMLS:C2931089 https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome owl:Class MONDO:0005219 biolink:NamedThing breast fibrocystic disease Fibrosis associated with cyst formation in the breast parenchyma. tmpak2llvmy_mondo_relaxed.owl fibrocystic breast changes|fibrocystic change of the breast|fibrocystic breast|fibrocystic disease of breast|benign breast disease|fibrocystic change of breast|mammary dysplasia|fibrocystic disease|breast fibrocystic change|fibrocystic breast disease|diffuse cystic mastopathy|cystic disease of the breast|fibrocystic mastopathy|cystic disease of breast|fibrocystic disease of the breast EFO:0003014|UMLS:C0016034|ICD10:N60.1|ICD9:610.1|DOID:10354|MESH:D005348|NCIT:C3039|ICD10:N60 Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic owl:Class NCBITaxon:4107 biolink:NamedThing Solanum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:4080|NCBITaxon:49275 ncbi_taxonomy owl:Class NCBITaxon:424574 biolink:NamedThing Solaneae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100095 biolink:NamedThing neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. tmpak2llvmy_mondo_relaxed.owl neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures|CONDSIAS OMIM:618170|DOID:0070352 http://orcid.org/0000-0001-5208-3432 MONDO:0032576 owl:Class MONDO:0007295 biolink:NamedThing rolandic epilepsy Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. tmpak2llvmy_mondo_relaxed.owl benign familial epilepsy of childhood with rolandic spikes|centrotemporal epilepsy|BECRS|benign rolandic epilepsy|BCECTS|benign rolandic epilepsy (BRE)|BRE|benign epilepsy with centrotemporal spikes|benign Rolandic epilepsy|sylvan seizures|benign rolandic epilepsy of childhood (BREC)|benign epilepsy with centro-temporal spikes (BECTS)|rolandic epilepsy|BECTS|benign epilepsy of childhood with centrotemporal spikes|temporal-central focal epilepsy|benign childhood epilepsy with centrotemporal spike|benign childhood epilepsy with centrotemporal spikes|benign epilepsy of childhood with centrotemporal spikes (BECCT)|CENTRALOPATHIC epilepsy OMIM:117100|UMLS:CN200685|Orphanet:1945|GARD:0010287|UMLS:C0376532|NCIT:C116538|DOID:3329|SCTID:44145005|UMLS:C2363129|ICD9:345.80|ICD10:G40.0 https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre owl:Class HP:0003110 biolink:NamedThing Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. tmpak2llvmy_mondo_relaxed.owl Pee issues|Urine issues UMLS:C4025655 HP:0011866|HP:0011865 human_phenotype owl:Class MONDO:0011481 biolink:NamedThing craniosynostosis 2 A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. tmpak2llvmy_mondo_relaxed.owl craniosynostosis, Warman type|CRS2|Warman Mulliken Hayward syndrome|craniosynostosis 2|Warman-Mulliken-Hayward syndrome|MSX2-related craniosynostosis|craniosynostosis type 2|craniosynostosis Warman type GARD:0005538|Orphanet:1541|SCTID:720817008|OMIM:604757|ICD10:Q75.8 owl:Class MONDO:0019932 biolink:NamedThing isolated partial vaginal agenesis Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. tmpak2llvmy_mondo_relaxed.owl congenital absence of vagina Orphanet:96269|SCTID:87380008|ICD10:Q52.0 owl:Class MONDO:0018278 biolink:NamedThing congenital muscular dystrophy with intellectual disability tmpak2llvmy_mondo_relaxed.owl CMD with intellectual disability|CMD-MR ICD10:G71.2|Orphanet:370968 owl:Class MONDO:0008298 biolink:NamedThing postaxial tetramelic oligodactyly Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl postaxial oligodactyly, tetramelic|oligodactyly tetramelic postaxial GARD:0004065|UMLS:C1867924|MESH:C566767|Orphanet:2730|OMIM:176240|ICD10:Q73.8 https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial owl:Class MONDO:0024263 biolink:NamedThing neonatal aspiration syndrome Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. tmpak2llvmy_mondo_relaxed.owl UMLS:C0349468|NCIT:C118312|SCTID:276533002 Editor note: TODO axiomatize using ECTO owl:Class MONDO:0009768 biolink:NamedThing oculodentodigital dysplasia, autosomal recessive Autosomal recessive form of oculodentodigital dysplasia. tmpak2llvmy_mondo_relaxed.owl oculodentoosseous dysplasia recessive|oculodentoosseous dysplasia, autosomal recessive|ODOD recessive|ODDD, autosomal recessive|oculodentodigital dysplasia, autosomal recessive|autosomal recessive oculodentodigital dysplasia|ODOD, autosomal recessive MESH:C567605|OMIM:257850|UMLS:C2749477|GARD:0004045 owl:Class MONDO:0008111 biolink:NamedThing oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl odd syndrome|Meyer-Schwickerath syndrome|oculodentodigital dysplasia|oculodentoosseous dysplasia|ODDD|ODDD syndrome|oculo-dento-digital syndrome|oculodentodigital syndrome|oculo-dento-digital dysplasia GARD:0007239|ICD10:Q87.8|Orphanet:2710|OMIM:164200|MESH:C563160|MedDRA:10063691|SCTID:38215007|ICD9:759.89|DOID:0060291 https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia owl:Class MONDO:0003315 biolink:NamedThing endometrium carcinoma in situ A carcinoma in situ involving a endometrium. tmpak2llvmy_mondo_relaxed.owl stage 0 endometrium carcinoma|carcinoma in situ of endometrium|endometrium in situ carcinoma|endometrial carcinoma in situ ICD10:D07.0|SCTID:92582009|UMLS:C0346191|DOID:5172|ICD9:233.2 owl:Class MONDO:0006738 biolink:NamedThing eccrine acrospiroma A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. tmpak2llvmy_mondo_relaxed.owl acrospiroma, eccrine|Hidradenomas|Hidradenomas, solid-cystic|eccrine acrospiroma|solid cystic hidradenoma|Hidradrenomas, nodular|nodular Hidradrenomas|solid-cystic hidradenoma|clear cell Hidradrenoma|solid-cystic Hidradenomas|Hidradrenomas, clear-cell|eccrine hidradenoma of skin|eccrine hidradenoma|poroma/acrospiroma|nodular Hidradrenoma|poroma (acrospiroma)|poroma|hidradenoma|hidradenoma, solid-cystic|Hidradrenoma, clear-cell|acrospiromas, eccrine|Hidradrenoma, nodular|eccrine poroma|eccrine Acrospiromas|clear-cell Hidradrenomas|clear-cell Hidradrenoma|acrospiromas GARD:0005726|MESH:D018250|DOID:5442|SCTID:400099008|ONCOTREE:PORO|EFO:1000912|NCIT:C27273 owl:Class HGNC:29007 biolink:NamedThing FRMPD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018365 biolink:NamedThing malignant non-epithelial tumor of ovary tmpak2llvmy_mondo_relaxed.owl non-epithelial cancer of ovary|ovarian non-epithelial cancer|ovarian malignant non-epithelial tumor UMLS:CN205032|Orphanet:398940 Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma owl:Class UBERON:0010204 biolink:NamedThing tail vasculature A vasculature that is part of a post-anal tail. tmpak2llvmy_mondo_relaxed.owl tail vasculature|post-vent vasculature owl:Class CHEBI:76840 biolink:NamedThing EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category. tmpak2llvmy_mondo_relaxed.owl miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* inhibitor|EC 1.14.99.* inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors owl:Class UBERON:0003303 biolink:NamedThing roof plate of medulla oblongata A roof plate that is part of a medulla oblongata [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl roofplate medulla oblongata|medulla oblongata roofplate|roof plate of metepencephalon|metepencephalon roof plate|roof plate of bulb|medulla oblongata roof plate|bulb roof plate|medulla oblonmgata roofplate|metepencephalon roofplate|roofplate of metepencephalon|bulb roofplate|roofplate of bulb|roof plate medulla oblongata|roof plate of medulla oblonmgata|medulla oblonmgata roof plate|roofplate of medulla oblongata|roofplate of medulla oblonmgata owl:Class MONDO:0005563 biolink:NamedThing nut midline carcinoma A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. tmpak2llvmy_mondo_relaxed.owl NUT Midline carcinoma|NUT midline carcinoma of the head and neck|nuclear protein in testis midline carcinoma|Midline carcinoma of children and Young adults with NUT rearrangement|carcinoma with t(15;19)(q13;p13.1) translocation|NMC|NUT carcinoma UMLS:C1707291|DOID:0060463|Wikipedia:NUT_midline_carcinoma|ONCOTREE:NMCHN|NCIT:C45716|EFO:0005783|Orphanet:443167|UMLS:CN237663|ICD10:C80.9 owl:Class GO:0060589 biolink:NamedThing nucleoside-triphosphatase regulator activity Binds to and modulates the activity of an NTPase. tmpak2llvmy_mondo_relaxed.owl NTPase regulator activity owl:Class HGNC:11122 biolink:NamedThing SMPX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013492 biolink:NamedThing alopecia-intellectual disability syndrome 3 tmpak2llvmy_mondo_relaxed.owl APMR3|alopecia-mental retardation syndrome 3|alopecia-intellectual disability syndrome 3 UMLS:C3151362|OMIM:613930 owl:Class MONDO:0021090 biolink:NamedThing lipid-rich breast carcinoma An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. tmpak2llvmy_mondo_relaxed.owl lipid-rich breast carcinoma|breast lipid-rich carcinoma|lipid secreting breast carcinoma NCIT:C40365|UMLS:C1517894|DOID:7076 owl:Class CL:0000146 biolink:NamedThing simple columnar epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0015935 biolink:NamedThing extragonadal germinoma tmpak2llvmy_mondo_relaxed.owl MedDRA:10018207|Orphanet:182127 owl:Class UBERON:0036245 biolink:NamedThing parenchyma of mammary gland Parenchymal tissue that consists of the alveoli, grape-like clusters where milk is stored, and branching ducts, which are tubular canals carrying gladular secretions. tmpak2llvmy_mondo_relaxed.owl lactiferous gland parenchyma|parenchyma of lactiferous gland|mammary gland parenchyma owl:Class GO:0050973 biolink:NamedThing detection of mechanical stimulus involved in equilibrioception The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears. tmpak2llvmy_mondo_relaxed.owl equilibrioception, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during equilibrioception|equilibrioception, detection of mechanical stimulus|sensory detection of mechanical stimulus during equilibrioception|equilibrioception, sensory detection of mechanical stimulus owl:Class MONDO:0016174 biolink:NamedThing paraneoplastic sensory ganglionopathy tmpak2llvmy_mondo_relaxed.owl paraneoplastic sensory neuronopathy Orphanet:208999 owl:Class MONDO:0016181 biolink:NamedThing solid tumor associated with an acquired peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:209019|UMLS:CN200931 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neoplasm MONDO_0005070 owl:Class GO:0033085 biolink:NamedThing negative regulation of T cell differentiation in thymus Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. tmpak2llvmy_mondo_relaxed.owl negative regulation of T cell development in thymus|negative regulation of thymocyte differentiation|negative regulation of thymocyte cell differentiation|negative regulation of thymic T cell differentiation owl:Class GO:1905788 biolink:NamedThing negative regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that stops, prevents or reduces the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpak2llvmy_mondo_relaxed.owl downregulation of perception of touch, detection of mechanical stimulus|downregulation of detection of mechanical stimulus involved in sensory perception of touch|down regulation of detection of mechanical stimulus involved in sensory perception of touch|inhibition of perception of touch, sensory transduction of mechanical stimulus|down regulation of perception of touch, sensory transduction of mechanical stimulus|down-regulation of perception of touch, detection of mechanical stimulus|down regulation of sensory detection of mechanical stimulus during perception of touch|downregulation of sensory detection of mechanical stimulus during perception of touch|inhibition of sensory transduction of mechanical stimulus during perception of touch|inhibition of detection of mechanical stimulus involved in sensory perception of touch|negative regulation of sensory detection of mechanical stimulus during perception of touch|negative regulation of perception of touch, sensory transduction of mechanical stimulus|inhibition of perception of touch, detection of mechanical stimulus|down regulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of perception of touch, sensory detection of mechanical stimulus|downregulation of sensory transduction of mechanical stimulus during perception of touch|negative regulation of tactition, sensory detection of mechanical stimulus|inhibition of sensory detection of mechanical stimulus during perception of touch|down regulation of tactition, sensory detection of mechanical stimulus|down regulation of sensory transduction of mechanical stimulus during perception of touch|negative regulation of sensory transduction of mechanical stimulus during perception of touch|negative regulation of perception of touch, detection of mechanical stimulus|inhibition of tactition, sensory detection of mechanical stimulus|inhibition of perception of touch, sensory detection of mechanical stimulus|downregulation of perception of touch, sensory transduction of mechanical stimulus|down-regulation of tactition, sensory detection of mechanical stimulus|down-regulation of sensory detection of mechanical stimulus during perception of touch|down-regulation of sensory transduction of mechanical stimulus during perception of touch|down regulation of perception of touch, detection of mechanical stimulus|downregulation of perception of touch, sensory detection of mechanical stimulus|down-regulation of detection of mechanical stimulus involved in sensory perception of touch|down-regulation of perception of touch, sensory transduction of mechanical stimulus|negative regulation of perception of touch, sensory detection of mechanical stimulus|downregulation of tactition, sensory detection of mechanical stimulus owl:Class MONDO:0011472 biolink:NamedThing epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia/skin fragility syndrome|Mcgrath syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia-skin fragility syndrome|ectodermal dysplasia skin fragility syndrome|McGrath syndrome Orphanet:158668|GARD:0009705|OMIM:604536|MESH:C536183|ICD10:Q81.0|SCTID:716699004|UMLS:C1858302 owl:Class GO:0031974 biolink:NamedThing membrane-enclosed lumen The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007842 biolink:NamedThing Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, type Xi, formerly|JOINT laxity, familial|Ehlers-Danlos syndrome, type 11 (formerly)|familial Joint instability syndrome|familial joint laxity|EDS XI|Ehlers-Danlos syndrome, type Xi|Joint instability syndrome|EDS Xi, formerly|articular hypermobility syndrome|EDS11|EDS Xi|EDS 11 (formerly)|familial joint instability syndrome|EDS11, formerly Orphanet:2295|MESH:C535884|OMIM:147900|SCTID:71322004|UMLS:C0268349|GARD:0003054|ICD10:Q79.6 owl:Class MONDO:0011179 biolink:NamedThing leishmaniasis, tegumentary, susceptibility to tmpak2llvmy_mondo_relaxed.owl leishmaniasis, tegumentary, susceptibility to OMIM:602068 owl:Class CL:1001587 biolink:NamedThing uterine cervix glandular cell Glandular cell of uterine cervix epithelium. tmpak2llvmy_mondo_relaxed.owl cervix glandular cell|cervix, uterine glandular cells|cervix, uterine glandular cell CALOHA:TS-1273 owl:Class MONDO:0043207 biolink:NamedThing urethral obstruction sequence tmpak2llvmy_mondo_relaxed.owl EUOS|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction|early urethral obstruction sequence GARD:0005428|SCTID:18241005|MESH:C536477|UMLS:C0265363 owl:Class MONDO:0002418 biolink:NamedThing ethmoid sinus adenocarcinoma A carcinoma that arises from glandular epithelial cells of the epithelial cell tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus UMLS:C1333472|NCIT:C6237|DOID:2766 owl:Class MONDO:0003401 biolink:NamedThing central nervous system endodermal sinus tumor A yolk sac tumor that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood central nervous system endodermal sinus neoplasm|pediatric central nervous system yolk Sac tumor|central nervous system endodermal sinus tumor|pediatric central nervous system yolk Sac neoplasm|central nervous system yolk Sac tumor|childhood central nervous system yolk Sac tumor|childhood central nervous system yolk Sac neoplasm|pediatric central nervous system endodermal sinus neoplasm|central nervous system yolk sac tumor|yolk Sac tumor of the CNS|childhood central nervous system endodermal sinus tumor DOID:5343|NCIT:C6209 owl:Class MONDO:0060671 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl epilepsy, juvenile myoclonic, susceptibility to, 10|EJM10 OMIM:617924|DOID:0111325 owl:Class HGNC:3257 biolink:NamedThing EIF2B1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014885 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 5 A distal epiphysis that is part of a distal phalanx of manual digit 5. tmpak2llvmy_mondo_relaxed.owl ungual tuberosity of distal phalanx of little finger|distal epiphysis of distal phalanx of little finger|distal end of distal phalanx of little finger|head of distal phalanx of fifth digit of hand|head of distal phalanx of little finger|distal end of distal phalanx of fifth finger|distal epiphysis of distal phalanx of manual digit V|head of distal phalanx of fifth finger owl:Class MONDO:0004659 biolink:NamedThing eye carcinoma in situ A carcinoma in situ involving a eye. tmpak2llvmy_mondo_relaxed.owl eyeball of camera-type eye carcinoma in situ|eye in situ carcinoma|stage 0 eye carcinoma|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eyeball of camera-type eye|carcinoma in situ of eye ICD9:234.0|DOID:8792|ICD10:D09.2|SCTID:92590009|UMLS:C0154094 owl:Class MONDO:0008307 biolink:NamedThing presenile dementia, Kraepelin type tmpak2llvmy_mondo_relaxed.owl catatonia of Kraepelin|Kraepelin disease|presenile dementia, Kraepelin type MESH:C535273|GARD:0010032|UMLS:C1867772|OMIM:176600 https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type owl:Class MONDO:0024504 biolink:NamedThing enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome. tmpak2llvmy_mondo_relaxed.owl EC cell, serotonin producing pancreatic neuroendocrine tumor|carcinoid neoplasm of the pancreas|serotonin-producing neuroendocrine tumor of pancreas|carcinoid neoplasm of pancreas|enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing tumor of the pancreas|serotonin-producing pancreatic neuroendocrine tumor|pancreatic carcinoid tumor|EC cell, serotonin producing pancreatic NET|pancreatic serotonin producing tumor|serotonin-producing pancreatic NET|carcinoid tumor of pancreas|pancreatic serotonin producing neoplasm|serotonin-producing PNET|serotonin-producing tumor of pancreas NCIT:C4446|Orphanet:506090 owl:Class MONDO:0009227 biolink:NamedThing myofibromatosis, infantile, 1 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. tmpak2llvmy_mondo_relaxed.owl IMF1|myofibromatosis caused by mutation in PDGFRB|myofibromatosis, infantile, type 1|myofibromatosis, infantile, 1|PDGFRB myofibromatosis|fibromatosis, congenital generalized|myofibromatosis, juvenile ICD9:756.9|MESH:C562978|SCTID:254146000|OMIM:228550 owl:Class UBERON:0001330 biolink:NamedThing pampiniform plexus The pampiniform plexus is a network of many small veins found in the male spermatic cord. It is formed by the union of multiple spermatic veins from the back of the testis and tributaries from the epididymis. The veins of the plexus ascend along the cord in front of the ductus deferens. Below the subcutaneous inguinal ring they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins. These again unite to form a single vein, the testicular vein, which opens on the right side into the inferior vena cava, at an acute angle, and on the left side into the left renal vein, at a right angle. The pampinoform plexus forms the chief mass of the cord. In addition to its function in venous return from the testes, the pampiniform plexus also plays a role in the temperature regulation of the testes. It acts as a heat exchanger, cooling blood in adjacent arteries. An abnormal enlargement of the pampiniform plexus is a medical condition called varicocele. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl pampiniform venous plexus|venous plexus of fascia of prostate|plexus venosus pampiniformis|venous plexus of fascia of prostate gland|plexus of veins of fascia of prostate owl:Class MONDO:0014031 biolink:NamedThing microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. tmpak2llvmy_mondo_relaxed.owl Alazami syndrome|facial dysmorphism, intellectual disability, and primordial dwarfism|ALAZS UMLS:C3554439|ICD10:Q87.1|Orphanet:319671|OMIM:615071 owl:Class MONDO:0001985 biolink:NamedThing partial arterial retinal occlusion A partial occlusion of the retinal artery. tmpak2llvmy_mondo_relaxed.owl retinal partial arterial occlusion|partial retinal arterial occlusion ICD9:362.33|NCIT:C35192|ICD10:H34.21|ICD10:H34.219|SCTID:776009|UMLS:C0154839|DOID:14522 owl:Class MONDO:0006948 biolink:NamedThing retinal artery occlusion An occlusion of the retinal artery. tmpak2llvmy_mondo_relaxed.owl EFO:1001154|UMLS:C0035302|SCTID:232035005|MESH:D015356|DOID:8483|NCIT:C34978|MedDRA:10038827 owl:Class MONDO:0032569 biolink:NamedThing isolated growth hormone deficiency, type 5 tmpak2llvmy_mondo_relaxed.owl ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V|IGHD5 OMIM:618160 owl:Class SO:0000443 biolink:NamedThing polymer_attribute An attribute to describe the kind of biological sequence. tmpak2llvmy_mondo_relaxed.owl polymer attribute owl:Class SO:0000400 biolink:NamedThing sequence_attribute An attribute describes a quality of sequence. tmpak2llvmy_mondo_relaxed.owl sequence attribute owl:Class MONDO:0012143 biolink:NamedThing hereditary cryohydrocytosis with reduced stomatin tmpak2llvmy_mondo_relaxed.owl SDCHCN|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|stomatin-deficient cryohydrocytosis with neurologic defects|ChC type 2|hereditary cryohydrocytosis type 2|sdCHC|stomatin-deficient cryohydrocytosis|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly Orphanet:168577|UMLS:C1837206|MESH:C563840|OMIM:608885|ICD10:D58.8 owl:Class MONDO:0018556 biolink:NamedThing Lambert-Eaton myasthenic syndrome Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). tmpak2llvmy_mondo_relaxed.owl Eaton Lambert syndrome|Eaton-Lambert syndrome|Lambert Eaton syndrome|myasthenic-myopathic syndrome of Lambert-Eaton|myasthenic syndrome of Lambert-Eaton|LEMS|Lambert Eaton myasthenic syndrome|Lambert-Eaton syndrome NCIT:C3155|UMLS:C0022972|MedDRA:10067685|ICD10:G70.80|SCTID:56989000|DOID:0050214|ICD9:358.3|MESH:D015624|ICD10:G73.1|GARD:0006851|Orphanet:43393 https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome owl:Class MONDO:0018215 biolink:NamedThing paraneoplastic neurologic syndrome A paraneoplastic syndrome that involves the nervous system. tmpak2llvmy_mondo_relaxed.owl PNS|paraneoplastic syndrome of nervous system|nervous system paraneoplastic syndrome|paraneoplastic cerebellar degeneration|PCD ICD9:331.89|GARD:0007326|SCTID:192877007|Orphanet:36388|MedDRA:10072106 owl:Class HP:0010280 biolink:NamedThing Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. tmpak2llvmy_mondo_relaxed.owl Inflammation of the mouth|Gingivostomatitis MSH:D013280|UMLS:C0149704|SNOMEDCT_US:61170000|UMLS:C0038362|SNOMEDCT_US:20607006 peter 2009-07-12T09:48:56Z human_phenotype owl:Class HGNC:25356 biolink:NamedThing SPRTN tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048565 biolink:NamedThing digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. tmpak2llvmy_mondo_relaxed.owl intestine development|intestinal development|gut development owl:Class CHEBI:39141 biolink:NamedThing Bronsted acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). tmpak2llvmy_mondo_relaxed.owl donneur d'hydron|acide de Bronsted|hydron donor|Bronsted acid|Bronsted-Saeure owl:Class MONDO:0012259 biolink:NamedThing colloid cysts of third ventricle Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. tmpak2llvmy_mondo_relaxed.owl neuroepithelial cysts of third ventricle|colloid cysts of third ventricle OMIM:609363|MESH:C535966|GARD:0009878 https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle owl:Class HP:0002197 biolink:NamedThing Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. tmpak2llvmy_mondo_relaxed.owl Generalized onset seizure|Primary generalized seizure|Generalised onset seizure|Primary generalised seizure|Generalised-onset seizure|Generalized-onset seizures|Generalized seizures|Generalised seizures MSH:D012640|UMLS:C1833488|UMLS:C0234533|SNOMEDCT_US:246545002 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. HP:0002409|HP:0007339|HP:0007114 human_phenotype owl:Class HGNC:1247 biolink:NamedThing C1S tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002192 biolink:NamedThing vulvar angiokeratoma An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. tmpak2llvmy_mondo_relaxed.owl angiokeratoma of mammalian vulva|angiokeratoma of Fordyce of mammalian vulva|mammalian vulva angiokeratoma of Fordyce|mammalian vulva angiokeratoma SCTID:402841001|DOID:2066|NCIT:C8596|UMLS:C1274281 owl:Class MONDO:0003954 biolink:NamedThing angiokeratoma of Fordyce An angiokeratoma that is located on the scrotum or vulva. tmpak2llvmy_mondo_relaxed.owl Fordyce angiokeratoma|Fordyce-type angiokeratoma of scrotum|Fordyce's spot DOID:664|UMLS:C0263639|SCTID:6331000 owl:Class MONDO:0060713 biolink:NamedThing deafness, congenital heart defects, and posterior embryotoxon tmpak2llvmy_mondo_relaxed.owl deafnes, congenital heart defects, and posterior embryotoxon|DCHE MESH:C566604|OMIM:617992 owl:Class MONDO:0003153 biolink:NamedThing adult brainstem glioma A brain stem glioma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult brainstem neuroglial neoplasm|glioma of the adult brain stem|brain stem glioma|glioma of adult brain stem|adult brain stem glioma|adult brainstem neuroglial tumor|brain stem glioma of adults|adult brainstem glioma UMLS:C0278873|DOID:4813|NCIT:C9091 owl:Class MONDO:0014804 biolink:NamedThing sideroblastic anemia 3 tmpak2llvmy_mondo_relaxed.owl adult-onset autosomal recessive sideroblastic anemia|SIDBA3|anemia, sideroblastic, 3, pyridoxine-refractory|GLRX5-related sideroblastic anemia ICD10:D64.0|DOID:0080343|Orphanet:255132|SCTID:720465002|OMIM:616860 owl:Class MONDO:0012391 biolink:NamedThing neuronal ceroid lipofuscinosis 8 northern epilepsy variant Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. tmpak2llvmy_mondo_relaxed.owl Northern epilepsy|neuronal ceroid lipofuscinosis 8|NCL, Northern epilepsy variant|CLN8 disease, EPMR (subtype)|CLN8 disease, late infantile (subtype)|progressive epilepsy-intellectual disability syndrome, Finnish type|CLN8 disease, Northern epilepsy variant|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|EPMR|progressive epilepsy with intellectual disability, northern epilepsy|epilepsy mental deterioration Finnish type|neuronal ceroid lipofuscinosis, Northern epilepsy variant|ceroid lipofuscinosis neuronal 8|CLN8|epilepsy, progressive, with mental retardation|progressive epilepsy - intellectual disability, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|epilepsy, progressive, with intellectual disability|progressive epilepsy with mental retardation, northern epilepsy OMIM:610003|ICD10:E75.4|GARD:0004010|Orphanet:1947|GARD:0002163|DOID:0110724 https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type|https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy owl:Class HGNC:21606 biolink:NamedThing MPC1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000496 biolink:NamedThing exposure to alkylating agent An exposure to alkylating agent. tmpak2llvmy_mondo_relaxed.owl exposure to alkylating agent owl:Class UBERON:0022355 biolink:NamedThing basal layer of endometrium The layer of endometrial epithelium adjacent to the uterine cavity. tmpak2llvmy_mondo_relaxed.owl pars basalis of endometrium|stratum basalis of endometrium owl:Class HGNC:952 biolink:NamedThing BARD1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33233 biolink:NamedThing fundamental particle A particle not known to have substructure. tmpak2llvmy_mondo_relaxed.owl elementary particle|elementary particles owl:Class UBERON:0001805 biolink:NamedThing autonomic ganglion ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion. tmpak2llvmy_mondo_relaxed.owl ganglion of visceral nervous system|visceral nervous system ganglion|ganglion of autonomic nervous system|autonomic nervous system ganglion|ganglion autonomicum owl:Class UBERON:0003501 biolink:NamedThing retina blood vessel A blood vessel that is part of a retina [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of inner layer of eyeball|tunica interna of eyeball blood vessel|blood vessel of retina|blood vessel of tunica interna of eyeball|retinal blood vessel|inner layer of eyeball blood vessel owl:Class MONDO:0004132 biolink:NamedThing anal canal squamous cell carcinoma A squamous cell carcinoma arising from the mucosa of the anal canal. tmpak2llvmy_mondo_relaxed.owl anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal ICD10:C21.1|DOID:7177|UMLS:C1332262|Orphanet:424019|NCIT:C7469 owl:Class MONDO:0005849 biolink:NamedThing milk allergic reaction Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase. tmpak2llvmy_mondo_relaxed.owl milk allergy|milk allergic reaction EFO:0007369|MESH:D016269|DOID:4376|UMLS:C0079840 owl:Class MONDO:0003476 biolink:NamedThing clear cell ependymoma An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo. tmpak2llvmy_mondo_relaxed.owl clear cell ependymoma NCIT:C4714|ONCOTREE:CCE|DOID:5507 owl:Class MONDO:0017913 biolink:NamedThing pure or complex hereditary spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure or complex familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia|Pure or complicated familial spastic paraplegia UMLS:CN227219|Orphanet:320335|ICD10:G11.4 owl:Class MONDO:0008888 biolink:NamedThing Williams-Campbell syndrome tmpak2llvmy_mondo_relaxed.owl tracheobronchomalacia|BRONCHOMALACIA|Williams-Campbell syndrome ICD9:748.3|SCTID:54203008|GARD:0007791|OMIM:211450|Orphanet:411501|ICD10:Q33.4 owl:Class MONDO:0010955 biolink:NamedThing ectodermal dysplasia with intellectual disability and syndactyly tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia with intellectual disability and syndactyly|ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia intellectual disability syndactyly GARD:0002052|MESH:C538018|UMLS:C1833169|OMIM:600906 owl:Class MONDO:0011912 biolink:NamedThing autosomal recessive nonsyndromic deafness 37 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpak2llvmy_mondo_relaxed.owl MYO6 autosomal recessive nonsyndromic deafness|DFNB37|autosomal recessive nonsyndromic deafness type 37|autosomal recessive deafness 37|deafness, autosomal recessive 37|deafness, autosomal recessive type 37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|autosomal recessive nonsyndromic deafness 37 UMLS:C1843028|ICD10:H90.3|DOID:0110495|MESH:C564331|OMIM:607821 owl:Class NCBITaxon:2509511 biolink:NamedThing Sarbecovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0034932 biolink:NamedThing epithelium of biliary system The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl biliary tract epithelium|biliary system epithelium|biliary epithelium owl:Class MONDO:0007772 biolink:NamedThing pseudohypoaldosteronism type 2A tmpak2llvmy_mondo_relaxed.owl PHA2A|hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|pseudohypoaldosteronism, type IIA|Gordon hyperkalemia-hypertension syndrome UMLS:C1840389|OMIM:145260|Orphanet:88938|SCTID:703254001|ICD10:I15.1 owl:Class MONDO:0019162 biolink:NamedThing pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. tmpak2llvmy_mondo_relaxed.owl Gordon syndrome|hyperkalemia-hypertension syndrome, Gordon type|familial hyperkalemic hypertension|chloride shunt syndrome|pseudohypoaldosteronism, type 2|Gordon hyperkalemia-hypertension syndrome|hyperpotassemia and hypertension familial|mineralocorticoid resistant hyperkalemia|PHA2|PHAII|pseudohypoaldosteronism, type II|hypertensive hyperkalemia|Spitzer-Weinstein syndrome UMLS:C1449844|NCIT:C123252|ICD9:588.89|ICD10:I15.1|GARD:0004553|OMIMPS:145260|Orphanet:757|SCTID:15689008 owl:Class MONDO:0008023 biolink:NamedThing muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl Furukawa-Takagi-Nakao syndrome|muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus GARD:0002417|SCTID:237611007|Orphanet:2579|ICD9:728.2|OMIM:158500 https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus owl:Class MONDO:0018951 biolink:NamedThing distal myopathy with vocal cord weakness Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction. tmpak2llvmy_mondo_relaxed.owl vocal cord and pharyngeal distal myopathy|MATR3-related distal myopathy|MPD2|distal myopathy 2|VCPDM ICD10:G71.0|GARD:0001887|UMLS:CN205357|Orphanet:600 owl:Class HP:0000501 biolink:NamedThing Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. tmpak2llvmy_mondo_relaxed.owl MSH:D005901|UMLS:C0017601|SNOMEDCT_US:23986001 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. human_phenotype owl:Class CHEBI:50816 biolink:NamedThing iron oxide tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8000007 biolink:NamedThing right side of back Right part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012804 biolink:NamedThing hypertrophic cardiomyopathy 12 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 12|cardiomyopathy, familial hypertrophic, type 12|CMH12|CSRP3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in CSRP3|hypertrophic cardiomyopathy 12|cardiomyopathy familial hypertrophic 12|hypertrophic cardiomyopathy type 12 UMLS:C2677491|DOID:0110318|OMIM:612124 owl:Class MONDO:0008071 biolink:NamedThing autosomal dominant progressive nephropathy with hypertension tmpak2llvmy_mondo_relaxed.owl renal failure, progressive, with hypertension|RFH1|renal failure, adult-onset|nephropathy, familial|nephritis, familial, without deafness or ocular defect SCTID:703310005|MESH:C562889|UMLS:C0403443|ICD10:I15.1|UMLS:C3839782|Orphanet:88659|OMIM:161900|ICD9:583.9 owl:Class HP:0025234 biolink:NamedThing Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. tmpak2llvmy_mondo_relaxed.owl 2016-12-14 11:50:48+00:00 HPO:probinson human_phenotype owl:Class MONDO:0054862 biolink:NamedThing premature ovarian failure 15 tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 15|POF15 OMIM:618096 owl:Class MONDO:0044351 biolink:NamedThing Schistosoma intercalatum infectious disease An disease or disorder caused by infection with Schistosoma intercalatum. tmpak2llvmy_mondo_relaxed.owl infection by Schistosoma intercalatum|Schistosoma intercalatum caused disease or disorder|infection caused by Schistosoma intercalatum|Schistosoma intercalatum disease or disorder SCTID:52179003|ICD9:120.8|UMLS:C0276932|NCIT:C35364 owl:Class MONDO:0015339 biolink:NamedThing adrenomyeloneuropathy An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. tmpak2llvmy_mondo_relaxed.owl adrenomyeloneuropathy|AMN UMLS:C1527231|ICD10:E71.3|SCTID:65389002|GARD:0010614|Orphanet:139399 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:18505 biolink:NamedThing RNF43 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011614 biolink:NamedThing 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. tmpak2llvmy_mondo_relaxed.owl 3-hydroxy-3-methylglutaryl-CoA synthase deficiency|Hmgcs2 deficiency|mitochondrial HMG-Coa synthase deficiency|HMG CoA synthetase deficiency|HMG-CoA synthase deficiency|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|HMGCS2D UMLS:C2751532|OMIM:605911|Orphanet:35701|GARD:0002712|ICD10:E71.3|MESH:C567784|SCTID:725286002 owl:Class MONDO:0019344 biolink:NamedThing antisynthetase syndrome Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). tmpak2llvmy_mondo_relaxed.owl AS syndrome|anti-Jo1 syndrome UMLS:C2609059|ICD10:M35.8|Orphanet:81|SCTID:445187004|ICD9:279.49|MedDRA:10068801|GARD:0000735|MESH:C537778|EFO:1001982 https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome owl:Class MONDO:0010542 biolink:NamedThing dilated cardiomyopathy 3B Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy caused by mutation in DMD|cardiomyopathy, dilated, type 3B|X-linked dilated cardiomyopathy|DMD-related dilated cardiomyopathy|cardiomyopathy, dilated, 3B|DMD dilated cardiomyopathy|cardiomyopathy, dilated, X-linked|dilated cardiomyopathy 3B|CMD3B|dilated cardiomyopathy type 3B DOID:0060561|ICD9:425.4|SCTID:702424003|MESH:C580047|ICD10:I42.0|UMLS:C3668940|DOID:0110461|OMIM:302045 owl:Class MONDO:0001749 biolink:NamedThing cortical senile cataract A senile cataract that involves the lens cortex. tmpak2llvmy_mondo_relaxed.owl cortical senile cataract|lens cortex senile cataract|senile cataract of lens cortex UMLS:C0154980|SCTID:78875003|ICD9:366.15|DOID:13574 owl:Class HP:0001197 biolink:NamedThing Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. tmpak2llvmy_mondo_relaxed.owl Abnormality of prenatal development or birth UMLS:C4025797 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. human_phenotype owl:Class MONDO:0013968 biolink:NamedThing PGM1-CDG tmpak2llvmy_mondo_relaxed.owl CDG syndrome type It|glycogen storage disease due to phosphoglucomutase deficiency|congenital disorder of glycosylation type It|GSD type 14|GSDXIV|phosphoglucomutase deficiency type 1|congenital disorder of glycosylation type 1t|GSD 14|type 14 glycogenosis|Pgm1 deficiency|PGM1-CDG|congenital disorder of glycosylation, type It|phosphoglucomutase-1 deficiency|CDG-It|phosphoglucomutase 1 deficiency|CDG1T|glycogen storage disease 14|CDG it Orphanet:319646|DOID:0080570|UMLS:C2752015|GARD:0004329|OMIM:614921|ICD10:E77.8|MESH:C567859 owl:Class HP:0002870 biolink:NamedThing Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. tmpak2llvmy_mondo_relaxed.owl Obstructive sleep apnoea SNOMEDCT_US:78275009|UMLS:C0520679|MSH:D020181 human_phenotype owl:Class GO:1901020 biolink:NamedThing negative regulation of calcium ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl down-regulation of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity|inhibition of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity owl:Class HP:0002354 biolink:NamedThing Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. tmpak2llvmy_mondo_relaxed.owl Memory problems|Poor memory|Forgetfulness|Memory impairment|Memory loss UMLS:C0233794|SNOMEDCT_US:386807006|UMLS:C0751295|UMLS:C0542476|SNOMEDCT_US:55533009|MSH:D008569 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. HP:0002081|HP:0000747 human_phenotype owl:Class MONDO:0027676 biolink:NamedThing congenital anomalies of kidney and urinary tract 2 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. tmpak2llvmy_mondo_relaxed.owl congenital anomalies of kidney and urinary tract type 2|hydronephrosis due to Pujo|multicystic renal dysplasia, bilateral|pelviureteric junction obstruction|TBX18 congenital anomaly of kidney and urinary tract|CAKUT2|congenital anomaly of kidney and urinary tract caused by mutation in TBX18|congenital anomalies of kidney and urinary tract 2|ureteropelvic junction obstruction OMIM:143400|DOID:0080207 owl:Class MONDO:0008444 biolink:NamedThing spastic paraplegia, optic atrophy, and dementia tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, optic atrophy, and dementia UMLS:C1866849|OMIM:182830|MESH:C566679 owl:Class MONDO:0024381 biolink:NamedThing circadian rhythm sleep disorder, jet lag type A circadian sleep disorder that results from travelling across time zones. tmpak2llvmy_mondo_relaxed.owl jet lag ICD10:G47.25|UMLS:C0231311 owl:Class MONDO:0020128 biolink:NamedThing motor neuron disease A disease involving the motor neuron. tmpak2llvmy_mondo_relaxed.owl disorder of motor neuron|motor neuron disease|motor neuron disease or disorder|disease or disorder of motor neuron|anterior horn cell disease|disease of motor neuron ICD10:G12.20|MESH:D016472|Orphanet:98503|SCTID:37340000|DOID:231|ICD9:335.9|ICD10:G12.2|MedDRA:10028003|ICD9:335.8|EFO:0003782|ICD9:335.2 owl:Class GO:0071333 biolink:NamedThing cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009749 biolink:NamedThing response to glucose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpak2llvmy_mondo_relaxed.owl response to glucose stimulus owl:Class MONDO:0010135 biolink:NamedThing thyroid dyshormonogenesis 3 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. tmpak2llvmy_mondo_relaxed.owl familial thyroid dyshormonogenesis caused by mutation in TG|thyroid dyshormonogenesis 3|TDH3|thyroid hormonogenesis, genetic defect in, 3|TG familial thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 3|thyroid dyshormonogenesis type 3 MESH:C562769|OMIM:274700|UMLS:C0342194|SCTID:23536000 owl:Class MONDO:0024481 biolink:NamedThing skin appendage disease A disease that involves the cutaneous appendage. tmpak2llvmy_mondo_relaxed.owl disorder of cutaneous appendage|disorder of skin appendage|disease of epidermal appendages|disease of cutaneous appendage|cutaneous appendage disease|cutaneous appendage disease or disorder|disease or disorder of cutaneous appendage|disease of epidermal appendage UMLS:C0037272|SCTID:238714008 owl:Class MONDO:0007303 biolink:NamedThing cervical rib disease A rib that is attached to a cervical vertebra or enlarged transverse processes. tmpak2llvmy_mondo_relaxed.owl cervical rib syndrome|cervical rib HP:0000891|NCIT:C158329|SCTID:72535009|OMIM:117900|ICD9:756.2|MESH:D002573|MedDRA:10008301|EFO:1000861 About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. https://github.com/monarch-initiative/monarch-disease-ontology/issues/405 owl:Class MONDO:0003490 biolink:NamedThing ampulla of vater squamous cell carcinoma A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpak2llvmy_mondo_relaxed.owl ampulla of Vater squamous cell carcinoma|hepatopancreatic ampulla squamous cell carcinoma NCIT:C27417|DOID:5527|UMLS:C1332251 owl:Class MONDO:0014115 biolink:NamedThing hypomyelination with brain stem and spinal cord involvement and leg spasticity tmpak2llvmy_mondo_relaxed.owl hypomyelination with brainstem and spinal cord involvement and leg spasticity|HBSL|aspartyl-tRNA synthetase deficiency Orphanet:363412|ICD10:E75.2|UMLS:C3809008|OMIM:615281 owl:Class NCBITaxon:33354 biolink:NamedThing Cimicomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014234 biolink:NamedThing reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. tmpak2llvmy_mondo_relaxed.owl RAPK|acropigmentatio reticularis|Kitamura reticulate acropigmentation|RAK|reticulate pigmentation of Kitamura|reticulate acropigmentation of Kitamura ICD10:L81.8|DOID:0060258|OMIM:615537|Orphanet:178307|ICD9:709.09|SCTID:239133004 owl:Class HGNC:11848 biolink:NamedThing TLR2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003599 biolink:NamedThing tail connective tissue A portion of connective tissue that is part of a tail [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl post-vent region connective tissue|tail portion of connective tissue|connective tissue of post-vent region|textus connectivus of tail|connective tissue of tail|tail textus connectivus|post-vent region textus connectivus|post-vent region portion of connective tissue|portion of connective tissue of tail|textus connectivus of post-vent region|portion of connective tissue of post-vent region owl:Class MONDO:0010847 biolink:NamedThing spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|SCA4|spinocerebellar ataxia 4 ICD10:G11.2|UMLS:C0752122|SCTID:715755008|GARD:0009970|OMIM:600223|DOID:0050957|Orphanet:98765 owl:Class MONDO:0017505 biolink:NamedThing apodia, bilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of foot, bilateral Orphanet:295107|ICD10:Q72.3 owl:Class MONDO:0017446 biolink:NamedThing apodia tmpak2llvmy_mondo_relaxed.owl congenital absence of foot SCTID:371197005|ICD10:Q72.3|Orphanet:294986 owl:Class UBERON:0034705 biolink:NamedThing developing neuroepithelium An embryonic or larval epithelium that is committed to form part of the nervous system. tmpak2llvmy_mondo_relaxed.owl neuroepithelium|neurepithelium|embryonic neuroepithelium owl:Class MONDO:0003333 biolink:NamedThing benign struma ovarii A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. tmpak2llvmy_mondo_relaxed.owl struma ovarii, benign|benign struma ovarii NCIT:C40012|DOID:5209|UMLS:C1511104 owl:Class MONDO:0013799 biolink:NamedThing efavirenz, poor metabolism of tmpak2llvmy_mondo_relaxed.owl efavirenz, poor metabolism of|efavirenz central nervous system toxicity, susceptibility to OMIM:614546 owl:Class CHEBI:23423 biolink:NamedThing pseudohalogen oxoacid tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018559 biolink:NamedThing fetal lower urinary tract obstruction tmpak2llvmy_mondo_relaxed.owl LUTO Orphanet:435365|UMLS:C4305545|SCTID:717752005 owl:Class CL:1000285 biolink:NamedThing smooth muscle cell of sigmoid colon A smooth muscle cell that is part of the sigmoid colon. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of sigmoid colon FMA:17521 cell owl:Class MONDO:0017693 biolink:NamedThing glycogen storage disease due to glycogen synthase deficiency tmpak2llvmy_mondo_relaxed.owl GSD0|glycogenosis due to glycogen synthase deficiency|GSD due to glycogen synthase deficiency|glycogen storage disease type 0 2022-03-01 UMLS:CN203589|ICD10:E74.0|Orphanet:308520 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class HGNC:5344 biolink:NamedThing ICAM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032582 biolink:NamedThing nephrotic syndrome, type 19 tmpak2llvmy_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 19|NPHS19 OMIM:618178|DOID:0080394 owl:Class UBERON:0007385 biolink:NamedThing pectoral appendage lymph vessel A lymphatic vessel that is part of a pectoral appendage. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2995 biolink:NamedThing DPAGT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000147 biolink:NamedThing polyposis tmpak2llvmy_mondo_relaxed.owl polyposis|multiple polyps NCIT:C4089|UMLS:C0334108 owl:Class NCBITaxon:27479 biolink:NamedThing Reduviidae tmpak2llvmy_mondo_relaxed.owl assassin bugs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33356 biolink:NamedThing Reduvioidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019882 biolink:NamedThing distal trisomy 8q Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). tmpak2llvmy_mondo_relaxed.owl distal duplication 8q|distal trisomy type 8q|trisomy 8qter|telomeric duplication 8q SCTID:763277009|Orphanet:96100|ICD10:Q92.3 owl:Class MONDO:0016959 biolink:NamedThing partial duplication of the long arm of chromosome 8 tmpak2llvmy_mondo_relaxed.owl partial duplication of the long arm of chromosome type 8|partial trisomy of the long arm of chromosome 8|partial duplication of chromosome 8q|partial trisomy of chromosome 8q Orphanet:262896 owl:Class MONDO:0020846 biolink:NamedThing intellectual disability, autosomal recessive 64 tmpak2llvmy_mondo_relaxed.owl MENTAL RETARDATION, autosomal recessive 64|MRT64 OMIM:618103 owl:Class UBERON:8300004 biolink:NamedThing left hindlimb A hindlimb that is on the left side of a pelvic complex. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011746 biolink:NamedThing symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch tmpak2llvmy_mondo_relaxed.owl distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch|symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch UMLS:C1847185|OMIM:606895|GARD:0008554|MESH:C538148 https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch owl:Class MONDO:0021697 biolink:NamedThing chlamydia infectious disease Infections with bacteria of the genus CHLAMYDIA. tmpak2llvmy_mondo_relaxed.owl Chlamydia infectious disease|chlamydia infectious disease|Chlamydophila caused disease or disorder|Chlamydia disease or disorder|Chlamydia infection|Chlamydophila disease or disorder|infections, Chlamydia|infection, Chlamydia|Chlamydia caused disease or disorder EFO:1000863|MONDO:0006697|MESH:D002690|MESH:D023521 owl:Class NCBITaxon:42461 biolink:NamedThing Opisthokonta incertae sedis tmpak2llvmy_mondo_relaxed.owl Fungi/Metazoa incertae sedis GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33154 biolink:NamedThing Opisthokonta tmpak2llvmy_mondo_relaxed.owl Fungi/Metazoa group|opisthokonts GC_ID:1 ncbi_taxonomy owl:Class PATO:0000406 biolink:NamedThing curved A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend. tmpak2llvmy_mondo_relaxed.owl bowing|curled owl:Class MONDO:0004403 biolink:NamedThing childhood precursor T-lymphoblastic lymphoma/leukemia A T lymphoblastic leukemia/lymphoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood T lymphoblastic leukemia/lymphoma|childhood precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|pediatric precursor T-lymphoblastic lymphoma/leukemia DOID:7933|NCIT:C5640|UMLS:C1332997 owl:Class MONDO:0005805 biolink:NamedThing hypodermyiasis Infestation with larvae of the genus Hypoderma, the warble fly. tmpak2llvmy_mondo_relaxed.owl Oestridae disease or disorder|Oestridae caused disease or disorder|Oestridae infectious disease Orphanet:430|MESH:D007000|UMLS:C0020607|DOID:12926|EFO:0007320 owl:Class GO:0140056 biolink:NamedThing organelle localization by membrane tethering The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044776 biolink:NamedThing premature ovarian failure 10 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488). tmpak2llvmy_mondo_relaxed.owl Pof10|menopause, natural, Age At, quantitative trait locus 3|premature ovarian failure 10 OMIM:612885 owl:Class MONDO:0000709 biolink:NamedThing Crohn ileitis An Crohn disease involving a pathogenic inflammatory response in the ileum. tmpak2llvmy_mondo_relaxed.owl Crohn's ileitis|ileitis UMLS:C0020877|ICD10:K52.9|SCTID:52457000|NDFRT:N0000001662|NCIT:C35329|DOID:0060189|CSP:1248-5305|MESH:D007079|ICD9:558.9|MedDRA:10021312 owl:Class UBERON:0007188 biolink:NamedThing mesothelium of serous pericardium A mesothelium that is part of a serous pericardium. tmpak2llvmy_mondo_relaxed.owl pericardial mesothelium|mesothelium of pericardium|serous pericardium mesothelium owl:Class MONDO:0023039 biolink:NamedThing eccrine mucinous carcinoma tmpak2llvmy_mondo_relaxed.owl UMLS:C0346020|GARD:0010465 https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma owl:Class MONDO:0006059 biolink:NamedThing nasal cavity squamous cell carcinoma A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. tmpak2llvmy_mondo_relaxed.owl nasal cavity squamous cell carcinoma|squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity NCIT:C8192|UMLS:C0280333|DOID:5515|EFO:1000057 owl:Class MONDO:0003212 biolink:NamedThing nasal cavity carcinoma A carcinoma that arises from epithelial cells of the nasal cavity tmpak2llvmy_mondo_relaxed.owl carcinoma of the nasal cavity|cancer of nasal cavity|carcinoma of nasal cavity|nasal cavity cancer|cancer of the nasal cavity|nasal cavity carcinoma SCTID:448990005|UMLS:C1377785|DOID:4931|NCIT:C9336 owl:Class MONDO:0014889 biolink:NamedThing striatonigral degeneration, childhood-onset tmpak2llvmy_mondo_relaxed.owl SNDC|striatonigral Degeneration, childhood-onset|childhood-onset basal ganglia degeneration syndrome|striatonigral degeneration, childhood-onset; SNDC|Lenk-Ploski syndrome Orphanet:497906|OMIM:617054|UMLS:C4310743 owl:Class MONDO:0012477 biolink:NamedThing retinitis pigmentosa 33 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. tmpak2llvmy_mondo_relaxed.owl SNRNP200 retinitis pigmentosa|RP 33|retinitis pigmentosa type 33|RP33|retinitis pigmentosa 33|retinitis pigmentosa caused by mutation in SNRNP200 GARD:0010400|OMIM:610359|UMLS:C1835895|DOID:0110366|MESH:C563676|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33 owl:Class MONDO:0009306 biolink:NamedThing combined immunodeficiency with skin granulomas tmpak2llvmy_mondo_relaxed.owl CID due to RAG 1/2 deficiency|combined cellular and humoral immune defects with granulomas|CCHIDG|combined immunodeficiency due to RAG 1/2 deficiency OMIM:233650|UMLS:C2673536|ICD10:D81.1|MESH:C567115|Orphanet:157949 owl:Class MONDO:0100230 biolink:NamedThing fatty acyl-CoA reductase 1 dysregulation A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids. tmpak2llvmy_mondo_relaxed.owl fatty acyl-CoA reductase 1 dysregulation|FAR1 dysregulation https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004066 biolink:NamedThing intermediate cell type ciliary body melanoma Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpak2llvmy_mondo_relaxed.owl ciliary body intermediate cell type uveal melanoma|Intermediate cell type ciliary body melanoma|intermediate cell type uveal melanoma of ciliary body UMLS:C1334209|NCIT:C6118|DOID:6997 owl:Class MONDO:0004062 biolink:NamedThing intermediate cell type uveal melanoma Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpak2llvmy_mondo_relaxed.owl Intermediate cell type intraocular melanoma|mixed cell type uveal melanoma|Intermediate cell type uveal melanoma|intraocular mixed cell type melanoma NCIT:C7989|DOID:6992|UMLS:C0279693 owl:Class HP:0001650 biolink:NamedThing Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. tmpak2llvmy_mondo_relaxed.owl Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis Fyler:1411|SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. HP:0005140 human_phenotype owl:Class HP:0031652 biolink:NamedThing Abnormal aortic valve physiology tmpak2llvmy_mondo_relaxed.owl 2017-12-17 15:20:51+00:00 peter human_phenotype owl:Class HGNC:7976 biolink:NamedThing NR2F2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:36132 biolink:NamedThing alicyclic ketone A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpak2llvmy_mondo_relaxed.owl alicyclic ketone|alicyclic ketones owl:Class MONDO:0010925 biolink:NamedThing velo-facial-skeletal syndrome Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. tmpak2llvmy_mondo_relaxed.owl VELOFACIOSKELETAL syndrome UMLS:C1833380|OMIM:600736|GARD:0005469|MESH:C536536|ICD10:Q87.0|SCTID:763616002|Orphanet:3424 owl:Class MONDO:0021576 biolink:NamedThing fallopian tube endometrioid tumor A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpak2llvmy_mondo_relaxed.owl fallopian tube endometrioid neoplasm|fallopian tube endometrium neoplasm|endometrium neoplasm of fallopian tube|fallopian tube endometrioid tumor UMLS:C1517113|NCIT:C40111 owl:Class MONDO:0019472 biolink:NamedThing extranodal nasal NK/T cell lymphoma Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. tmpak2llvmy_mondo_relaxed.owl reticulosis, malignant|nasal type Extranodal NK/T-cell lymphoma|lethal midline granuloma|Extranodal NK/T-cell lymphoma, nasal type|NK/T-cell lymphoma|nasal T/natural killer-cell lymphoma|Extranodal NK/T lymphoma-nasal|NKTCL|angiocentric T-cell lymphoma ICD10:C86.0|Orphanet:86879|ICDO:9719/3|MedDRA:10065855|UMLS:C0392788|NCIT:C4684|GARD:0013270 owl:Class MONDO:0007485 biolink:NamedThing dyskeratosis congenita, autosomal dominant 1 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. tmpak2llvmy_mondo_relaxed.owl dyskeratosis congenita autosomal dominant|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, autosomal dominant type 1|DKCA1|DKCA|dyskeratosis congenita Scoggins type|autosomal dominant dyskeratosis congenita|autosomal dominant dyskeratosis congenita 1|dyskeratosis congenita, Scoggins type GARD:0006299|OMIM:127550|SCTID:707273001|DOID:0070014|MESH:C565079 https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant owl:Class MONDO:0016803 biolink:NamedThing unspecified inborn mitochondrial disorder tmpak2llvmy_mondo_relaxed.owl unspecified mitochondrial disorder UMLS:CN227004|Orphanet:254837 owl:Class MONDO:0008843 biolink:NamedThing atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. tmpak2llvmy_mondo_relaxed.owl premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|Feigenbaum-Bergeron-Richardson syndrome|Feigenbaum Bergeron Richardson syndrome GARD:0002279|SCTID:720519003|MESH:C565928|Orphanet:1192|OMIM:209010 owl:Class MONDO:0015553 biolink:NamedThing dystrophic epidermolysis bullosa, nails only Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. tmpak2llvmy_mondo_relaxed.owl nails-only DDEB|dominant dystrophic epidermolysis bullosa, nails only|DEB-na|nails-only DEB SCTID:722436002|ICD10:Q81.2|Orphanet:158676|UMLS:CN199732 owl:Class UBERON:0010890 biolink:NamedThing pelvic complex muscle Muscles of the pelvic girdle, hindlimb or pelvic fin. tmpak2llvmy_mondo_relaxed.owl pelvic girdle or hind limb muscle|pelvic girdle or posterior limb muscle|muscle of lower limb|muscle of pelvic girdle and leg|lower limb muscle|pelvic girdle and hind limb muscles owl:Class MONDO:0043303 biolink:NamedThing hyperacusis A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. tmpak2llvmy_mondo_relaxed.owl disturbance, loudness perception|loudness recruitment|hyperacusias|hyperesthesia, auditory|loudness Recruitments|hyperesthesias, auditory|sounds seem unnaturally loud|auditory hyperesthesia|hyperacuses|low tolerance to sound|auditory Hyperesthesias|Phonophobias|perception disturbance, loudness|loudness perception disturbances|hyperacusis|loudness perception disturbance|recruitment, loudness|disturbances, loudness perception|oversensitive hearing|perception disturbances, loudness|hyperacusia|phonophobia SCTID:25289003|MESH:D012001|NCIT:C116366|GARD:0009655 owl:Class MONDO:0005912 biolink:NamedThing phencyclidine abuse The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. tmpak2llvmy_mondo_relaxed.owl PCP abuse|phencyclidine abuse SCTID:7071007|DOID:5062|EFO:0007436|ICD9:305.90|MESH:D010623 owl:Class MONDO:0012111 biolink:NamedThing hypertrophic cardiomyopathy 8 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy 8|cardiomyopathy, familial hypertrophic, 8|CMH8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|cardiomyopathy, familial hypertrophic, type 8|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|hypertrophic cardiomyopathy type 8|MYL3 hypertrophic cardiomyopathy DOID:0110314|OMIM:608751|MESH:C563866|UMLS:C1837471 owl:Class UBERON:0006340 biolink:NamedThing fourth ventricle choroid plexus stroma A choroid plexus stroma that is part of a fourth ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020860 biolink:NamedThing faucial diphtheria Infection of the fauces by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl Diphtheritic membrane|Diphtheritic membranous angina|diphtheritic membranous angina|diphtheritic membrane|faucial diphtheria|Faucial diphtheria|Faucial Diphtheria NCIT:C34545|SCTID:3419005|ICD9:032.0|UMLS:C0012556 owl:Class MONDO:0011199 biolink:NamedThing nephropathy, progressive tubulointerstitial, with cholestatic liver disease tmpak2llvmy_mondo_relaxed.owl nephropathy, progressive tubulointerstitial, with cholestatic liver disease MESH:C566573|OMIM:602114|UMLS:C1865831 owl:Class MONDO:0013433 biolink:NamedThing primary sclerosing cholangitis Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. tmpak2llvmy_mondo_relaxed.owl cholangitis, primary sclerosing|PSC GARD:0001280|DOID:0060643|SCTID:197441003|UMLS:C0566602|MedDRA:10036732|ICD10:K83.0|Orphanet:171|OMIM:613806 owl:Class MONDO:0014629 biolink:NamedThing autoimmune interstitial lung disease-arthritis syndrome A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. tmpak2llvmy_mondo_relaxed.owl copa syndrome|AILJK|copa defect|autoimmune interstitial lung, joint, and kidney disease Orphanet:444092|ICD10:J84.8|OMIM:616414|UMLS:C4225334 Editor note: check relationship to RA-ILD owl:Class MONDO:0006826 biolink:NamedThing kwashiorkor A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl nutritional oedema with dyspigmentation of skin and/or hair|Kwashiokor|nutritional edema with dyspigmentation of skin and hair MedDRA:10023504|DOID:13579|ICD10:E40|SCTID:58262005|MESH:D007732|EFO:1001009|UMLS:C0022806|ICD9:260 owl:Class MONDO:0001371 biolink:NamedThing protein-energy malnutrition A nutritional deficit that is caused by inadequate protein or calorie intake. tmpak2llvmy_mondo_relaxed.owl Protein energy malnutrition MESH:D011502|ICD9:263.9|DOID:11801|ICD9:269.8|ICD9:263.8|ICD10:E46|SCTID:238107002|NCIT:C34952 owl:Class MONDO:0008281 biolink:NamedThing polyposis, intestinal, scattered and discrete tmpak2llvmy_mondo_relaxed.owl polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete UMLS:C1868006|OMIM:175400 owl:Class HP:0002733 biolink:NamedThing Abnormality of the lymph nodes A lymph node abnormality. tmpak2llvmy_mondo_relaxed.owl Abnormal lymph node histology|Abnormality of the lymph nodes UMLS:C0149727 HP:0008149 human_phenotype owl:Class MONDO:0000466 biolink:NamedThing first-degree atrioventricular block A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. tmpak2llvmy_mondo_relaxed.owl atrioventricular block, first degree|first degree atrioventricular block|first degree AV block|AV block first degree|atrioventricular block first degree SCTID:270492004|UMLS:C0085614|NCIT:C62015|ICD9:426.11|DOID:0050821 owl:Class HGNC:25583 biolink:NamedThing ODAD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012994 biolink:NamedThing dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. tmpak2llvmy_mondo_relaxed.owl DYT-SPR|DRD due to SRD|dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|SRD|sepiapterin reductase deficiency|SPR deficiency|autosomal recessive sepiapterin reductase-deficient DRD|dopa-responsive dystonia due to sepiapterin reductase deficiency MESH:C562657|DOID:0111168|SCTID:45116002|ICD10:G24.1|Orphanet:70594|UMLS:C0268468|GARD:0010365|OMIM:612716|ICD9:277.89 owl:Class MONDO:0005820 biolink:NamedThing Lassa fever A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. tmpak2llvmy_mondo_relaxed.owl Lassa hemorrhagic fever|LF MedDRA:10023927|NCIT:C128418|ICD10:A96.2|EFO:0007338|MESH:D007835|SCTID:19065005|ICD9:078.89|Orphanet:99824|DOID:9537|UMLS:C0023092 owl:Class MONDO:0030986 biolink:NamedThing blistering, acantholytic, of oral and laryngeal mucosa tmpak2llvmy_mondo_relaxed.owl ABOLM OMIM:619226 owl:Class GO:0045913 biolink:NamedThing positive regulation of carbohydrate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpak2llvmy_mondo_relaxed.owl up-regulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|upregulation of carbohydrate metabolic process|activation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism owl:Class IAO:0000027 biolink:NamedThing data item An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.|a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. tmpak2llvmy_mondo_relaxed.owl data item owl:Class MONDO:0015429 biolink:NamedThing choroideremia-hypopituitarism syndrome tmpak2llvmy_mondo_relaxed.owl CHM-hypopituitarism syndrome UMLS:CN226680|Orphanet:1434 owl:Class HGNC:5468 biolink:NamedThing IGFALS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016562 biolink:NamedThing progressive supranuclear palsy-pure akinesia with gait freezing syndrome PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpak2llvmy_mondo_relaxed.owl PSP-PAGF|PSP-pure akinesia with gait freezing ICD10:G23.1|UMLS:CN226961|Orphanet:240094 owl:Class CHEBI:83039 biolink:NamedThing crustacean metabolite An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. tmpak2llvmy_mondo_relaxed.owl crustacean metabolites owl:Class MONDO:0006506 biolink:NamedThing congenital nonspherocytic hemolytic anemia Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. tmpak2llvmy_mondo_relaxed.owl hereditary nonspherocytic hemolytic anemia|HNSHA MESH:D000746|UMLS:C0002882|SCTID:301317008|ICD9:282.3|DOID:2861|EFO:1000641 owl:Class MONDO:0014630 biolink:NamedThing NTHL1-related attenuated familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl familial adenomatous polyposis 3|NTHL1-related attenuated familial adenomatous polyposis|FAP3|familial adenomatous polyposis type 3|NTHL1-related attenuated FAP|NTHL1-related AFAP OMIM:616415|ICD10:D12.6|UMLS:C4225157|Orphanet:454840 owl:Class HP:0002814 biolink:NamedThing Abnormality of the lower limb An abnormality of the leg. tmpak2llvmy_mondo_relaxed.owl Abnormality of the leg|Abnormality of the lower limb|Lower limb deformities SNOMEDCT_US:449715001|UMLS:C1096086 human_phenotype owl:Class NCBITaxon:2732544 biolink:NamedThing Martellivirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020387 biolink:NamedThing double outlet right ventricle with subpulmonary ventricular septal defect tmpak2llvmy_mondo_relaxed.owl DORV with subpulmonary VSD|DORV-TGA|Taussig-Bing syndrome|Double outlet right ventricle with transposition of the great arteries UMLS:CN207267|ICD10:Q20.1|SCTID:448794008|Orphanet:99045 owl:Class MONDO:0010917 biolink:NamedThing chondrocalcinosis 1 tmpak2llvmy_mondo_relaxed.owl chondrocalcinosis 1|CCAL1|chondrocalcinosis with early-onset osteoarthritis GARD:0006048|MESH:C535938|OMIM:600668 owl:Class UBERON:0000488 biolink:NamedThing atypical epithelium Epithelium that consists of epithelial cells not arranged in one ore more layers. tmpak2llvmy_mondo_relaxed.owl atypical epithelia|heterogenous epithelium owl:Class MONDO:0008447 biolink:NamedThing hereditary spherocytosis type 1 Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spherocytosis caused by mutation in ANK1|hereditary spherocytosis 1|ANK1 hereditary spherocytosis|spherocytosis, type 1|HS1|Sph|spherocytosis, hereditary, 1|SPH1 OMIM:182900|UMLS:C2674218|DOID:0110916 owl:Class FOODON:00001293 biolink:NamedThing shellfish food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001176 biolink:NamedThing invertebrate animal food product tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000835 biolink:NamedThing negative regulation of androgen secretion Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032799 biolink:NamedThing mitochondrial DNA depletion syndrome 16 (hepatic type) tmpak2llvmy_mondo_relaxed.owl MTDPS16|MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM:618528 owl:Class UBERON:0012283 biolink:NamedThing femoral fat pad encapsulated adipose tissue associated with the femur tmpak2llvmy_mondo_relaxed.owl femoral fat depot owl:Class MONDO:0008320 biolink:NamedThing Protrusio acetabuli tmpak2llvmy_mondo_relaxed.owl Protrusio acetabuli|Protrusio acetabuli (disease)|PROTRUSIO acetabuli Protrusio acetabuli (disease) OMIM:177050|SCTID:59606006|HP:0003179 owl:Class GO:0008046 biolink:NamedThing axon guidance receptor activity Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. tmpak2llvmy_mondo_relaxed.owl receptor activity involved in axon guidance owl:Class MONDO:0005459 biolink:NamedThing human African trypanosomiasis A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. tmpak2llvmy_mondo_relaxed.owl Africam sleeping sickness|sleeping sickness|African sleeping sickness|African trypanosomiasis MedDRA:10001461|EFO:0005225|ICD10:B56.1|ICD9:086.5|GARD:0007826|NCIT:C84541|ICD10:B56.0|Orphanet:3385|DOID:10112|UMLS:C0041228|ICD10:B56|ICD10:B56.9|KEGG:05143|SCTID:27031003|MESH:D014353 MONDO:0018073 owl:Class UBERON:0001261 biolink:NamedThing lamina propria of urinary bladder A lamina propria that is part of a urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lamina propria mucosa of bladder|urinary bladder lamina propria mucosa|bladder lamina propria|lamina propria mucosae of urinary bladder|bladder lamina propria mucosae|lamina propria mucosae of bladder|lamina propria mucosa of urinary bladder|urinary bladder lamina propria mucosae|lamina propria of bladder|bladder lamina propria mucosa|urinary bladder lamina propria owl:Class MONDO:0013154 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2|muscle-eye-brain-POMT2 related|MDDGA2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related NCIT:C126742|UMLS:C3150411|DOID:0111240|OMIM:613150 owl:Class UBERON:0003607 biolink:NamedThing forelimb long bone A long bone that is part of a forelimb [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl anteriormost limb long bone|fore limb long bone|long bone of superior member|long bone of forelimb|superior member long bone|upper extremity long bone|long bone of anteriormost limb|long bone of upper extremity|long bone of fore limb|wing long bone owl:Class MONDO:0000257 biolink:NamedThing acute diarrhea Acute form of diarrhea. tmpak2llvmy_mondo_relaxed.owl acute diarrheal disease|diarrhea, acute|diarrhea (disease), acute|diarrheal disease, acute UMLS:C0740441|DOID:0050140|SCTID:409966000 owl:Class MONDO:0016256 biolink:NamedThing Hennekam syndrome Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Hennekam lymphangiectasia-lymphedema syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome|lymphangiectasies and lymphedema Hennekam type|lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia lymphedema syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome SCTID:234146006|DOID:0060366|ICD9:457.1|Orphanet:2136|GARD:0003318|UMLS:C0340834|OMIMPS:235510|ICD10:Q87.8 owl:Class GO:0032781 biolink:NamedThing positive regulation of ATPase activity Any process that activates or increases the rate of ATP hydrolysis by an ATPase. tmpak2llvmy_mondo_relaxed.owl upregulation of ATPase activity|activation of ATPase activity|up regulation of ATPase activity|stimulation of ATPase activity|up-regulation of ATPase activity|positive regulation of adenosinetriphosphatase activity owl:Class GO:0006705 biolink:NamedThing mineralocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpak2llvmy_mondo_relaxed.owl mineralocorticoid synthesis|mineralocorticoid biosynthesis|mineralocorticoid anabolism|mineralocorticoid formation owl:Class MONDO:0044696 biolink:NamedThing early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome tmpak2llvmy_mondo_relaxed.owl PEBAS|encephalopathy, progressive, early-onset, with brain atrophy and spasticity Orphanet:500144|OMIM:617669|UMLS:CN474476 owl:Class MONDO:0003091 biolink:NamedThing cutaneous mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl zone of skin mucoepidermoid carcinoma|mucoepidermoid skin carcinoma DOID:4683|SCTID:254713002|UMLS:C0346019|NCIT:C4472 owl:Class UBERON:0004777 biolink:NamedThing respiratory system submucosa A submucosa that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of apparatus respiratorius|apparatus respiratorius submucosa|submucosa of respiratory system owl:Class MONDO:0042968 biolink:NamedThing partial duplication of chromosome 12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003187 biolink:NamedThing Bartholin gland adenoid cystic carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. tmpak2llvmy_mondo_relaxed.owl major vestibular gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma|Bartholin's gland adenoid cystic carcinoma UMLS:C1511047|DOID:4879|NCIT:C40295 owl:Class HGNC:601 biolink:NamedThing APOA2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5864 biolink:NamedThing Babesia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32594 biolink:NamedThing Babesiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013279 biolink:NamedThing diaphysis of fibula A diaphysis that is part of a fibula[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl shaft of fibula|fibula diaphysis|corpus fibulae|body of fibula owl:Class MONDO:0013659 biolink:NamedThing microcephaly-capillary malformation syndrome tmpak2llvmy_mondo_relaxed.owl microcephaly-cutaneous capillary malformation syndrome|MIC-CM syndrome|microcephaly-capillary malformation syndrome|MICCAP|MIC-CAP syndrome ICD9:759.89|Orphanet:294016|UMLS:C3280296|ICD10:Q87.8|SCTID:703369003|OMIM:614261 owl:Class CHEBI:50818 biolink:NamedThing hematite tmpak2llvmy_mondo_relaxed.owl oligiste|Haematit|Blutstein|hematita|oligist|hematite|blood stone|haematite owl:Class CHEBI:50819 biolink:NamedThing ferric oxide tmpak2llvmy_mondo_relaxed.owl iron(3+) oxide|Eisentrioxid|iron(III) oxide|Eisen(III)-oxid|diiron trioxide|iron trioxide owl:Class UBERON:0000476 biolink:NamedThing acellular anatomical structure Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl acellular anatomical structures owl:Class UBERON:0006923 biolink:NamedThing vagina squamous epithelium A squamous epithelium that is part of a vagina. tmpak2llvmy_mondo_relaxed.owl vaginal squamous epithelium owl:Class UBERON:0006915 biolink:NamedThing stratified squamous epithelium Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA] tmpak2llvmy_mondo_relaxed.owl epithelium stratificatum squamosum owl:Class GO:0004618 biolink:NamedThing phosphoglycerate kinase activity Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). tmpak2llvmy_mondo_relaxed.owl ATP-3-phospho-D-glycerate-1-phosphotransferase activity|3-phosphoglyceric acid phosphokinase activity|3-phosphoglyceric kinase activity|3-PGK|PGK|3-phosphoglyceric acid kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|glycerophosphate kinase activity|phosphoglycerokinase activity|glycerate 3-phosphate kinase activity|3-phosphoglycerate phosphokinase activity|phosphoglyceric kinase activity|3-phosphoglycerate kinase activity|phosphoglyceric acid kinase activity owl:Class MONDO:0020257 biolink:NamedThing supranuclear oculomotor palsy Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. tmpak2llvmy_mondo_relaxed.owl conjugate gaze palsy|supranuclear ocular palsy|supranuclear disorder of eye movement|gaze palsy GARD:0008403|Orphanet:98687 Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves owl:Class MONDO:0016118 biolink:NamedThing muscular glycogenosis tmpak2llvmy_mondo_relaxed.owl glycogen storage myopathy ICD10:E74.0|Orphanet:206959 owl:Class MONDO:0017427 biolink:NamedThing congenital deformities of limbs tmpak2llvmy_mondo_relaxed.owl MedDRA:10024500|Orphanet:294944 owl:Class HGNC:12406 biolink:NamedThing TUB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012625 biolink:NamedThing retinitis pigmentosa 37 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in NR2E3|retinitis pigmentosa 37|NR2E3 retinitis pigmentosa|retinitis pigmentosa type 37|RP37 MESH:C567005|ICD10:H35.5|DOID:0110399|OMIM:611131|UMLS:C1970163 owl:Class MONDO:0007721 biolink:NamedThing hiatus hernia Herniation of the upper part of the stomach through the diaphragm. tmpak2llvmy_mondo_relaxed.owl hiatus hernia (disease)|diaphragmatic - hiatus -hernia|hernia, hiatus|hiatal hernia|hiatus hernia hiatus hernia (disease) OMIM:142400|HP:0002036|MESH:D006551|ICD10:K44|SCTID:84089009|DOID:12642|NCIT:C98945 owl:Class MONDO:0100423 biolink:NamedThing acute myeloid leukemia, PTPN11 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, BPTP3 Gene Mutation|AML, SH-PTP2 Gene Mutation|AML, PTP2C Gene Mutation|AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation|AML, PTP-1D Gene Mutation|AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation|AML, PTPN11 gene mutation|AML, SHP-2 Gene Mutation|AML, SHP2 Gene Mutation owl:Class MONDO:0009914 biolink:NamedThing pseudodiastrophic dysplasia Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. tmpak2llvmy_mondo_relaxed.owl pseudodiastrophic dysplasia|Pseudodiastrophic dwarfism GARD:0009463|MESH:C535826|ICD10:Q78.8|ICD9:756.9|UMLS:C0432206|OMIM:264180|SCTID:254058002|Orphanet:85174 https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia owl:Class MONDO:0013044 biolink:NamedThing atypical hemolytic-uremic syndrome with thrombomodulin anomaly tmpak2llvmy_mondo_relaxed.owl hemolytic uremic syndrome, atypical, susceptibility to, 6|susceptibility to atypical hemolytic uremic syndrome 6|atypical HUS with thrombomodulin anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 6|AHUS6|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly|D-HUS with thrombomodulin anomaly|aHUS with thrombomodulin anomaly|Ahus, susceptibility to, 6 OMIM:612926|Orphanet:217023|ICD10:D58.8 owl:Class MONDO:0001549 biolink:NamedThing hemolytic-uremic syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl hemolytic uremic syndrome|HUS|haemolytic-uraemic syndrome|acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') DOID:12554|MESH:D006463|NCIT:C75545|Orphanet:544458|GARD:0006588|UMLS:C0019061|OMIMPS:235400|ICD10:D59.3|ICD9:283.11|SCTID:111407006 owl:Class GO:0051356 biolink:NamedThing visual perception involved in equilibrioception The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpak2llvmy_mondo_relaxed.owl visual perception during equilibrioception|perception of orientation with respect to gravity by visual perception|equilibrioception by visual perception owl:Class MONDO:0014900 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2y|muscular dystrophy with progressive weakness, distal contractures and rigid spine|LGMD2Y|autosomal recessive muscular dystrophy due to LAP1B deficiency|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1 SCTID:725907002|OMIM:617072|Orphanet:424261|ICD10:G71.0|UMLS:C4310731|DOID:0110289 owl:Class MONDO:0001997 biolink:NamedThing root resorption Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl UMLS:C0035851|MESH:D012391|DOID:14550 owl:Class MONDO:0001670 biolink:NamedThing tooth resorption Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) tmpak2llvmy_mondo_relaxed.owl SCTID:70931000|ICD10:K03.3|UMLS:C0040451|ICD9:521.4|MESH:D014091|DOID:13240 owl:Class MONDO:0001566 biolink:NamedThing hypercalcemia disease Abnormally high concentration of calcium in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl hypercalcemia ICD10:E83.52|SCTID:66931009|UMLS:C0020437|MESH:D006934|NCIT:C3112|HP:0003072|DOID:12678|ICD9:275.42 owl:Class MONDO:0000156 biolink:NamedThing trigonocephaly tmpak2llvmy_mondo_relaxed.owl trigonocephaly, isolated|trigonocephaly|trigonocephalus|trigonocephalia SCTID:28740008 owl:Class MONDO:0022805 biolink:NamedThing colonic malakoplakia tmpak2llvmy_mondo_relaxed.owl GARD:0006137 https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia owl:Class MONDO:0004611 biolink:NamedThing soft palate cancer A primary or metastatic malignant neoplasm that affects the soft palate. tmpak2llvmy_mondo_relaxed.owl malignant soft palate neoplasm|malignant soft palate tumor|malignant tumor of soft palate|malignant neoplasm of soft palate|malignant neoplasm of the soft palate|cancer of soft palate|soft palate cancer|malignant tumor of the soft palate ICD9:145.3|DOID:8578|NCIT:C3529|SCTID:363388009|ICD10:C05.1|UMLS:C0153376 owl:Class MONDO:0013880 biolink:NamedThing facial paresis, hereditary congenital, 3 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. tmpak2llvmy_mondo_relaxed.owl facial paresis, hereditary congenital, type 3|congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|facial paresis, hereditary congenital, 3|HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|HCFP3 UMLS:C3553625|OMIM:614744 owl:Class MONDO:0017627 biolink:NamedThing congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. tmpak2llvmy_mondo_relaxed.owl congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable deafness|congenital hereditary facial paralysis with variable deafness|congenital hereditary facial palsy with variable hearing loss SCTID:722389002|Orphanet:306530|ICD10:Q87.0 owl:Class MONDO:0005417 biolink:NamedThing wet macular degeneration A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. tmpak2llvmy_mondo_relaxed.owl Kuhnt-Junius degeneration|wet age related macular degeneration|Senile macular degeneration, wet|neovascular age-related macular degeneration|exudative senile macular degeneration of retina|wet ARMD|wet AMD|wet senile macular retinal degeneration ICD10:H35.32|UMLS:C0271084|DOID:10873|EFO:0004683|UMLS:C2237660|SCTID:414173003|MESH:D057135|ICD9:362.52 owl:Class GO:0001216 biolink:NamedThing DNA-binding transcription activator activity A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets. tmpak2llvmy_mondo_relaxed.owl metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, metal ion regulated sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding owl:Class GO:0060455 biolink:NamedThing negative regulation of gastric acid secretion Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013182 biolink:NamedThing chromosome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. tmpak2llvmy_mondo_relaxed.owl dup(17)(p13.3)|trisomy 17p13.3|17p13.3 microduplication syndrome|chromosome 17p13.3 centromeric duplication syndrome|17p13.3 duplication syndrome|chromosome 17p13.3, centromeric, DUPLICATION syndrome UMLS:C2750748|Orphanet:217385|DOID:0060432|ICD10:Q92.3|SCTID:719582007|MESH:C567705|OMIM:613215|UMLS:C4304641 owl:Class NCBITaxon:948 biolink:NamedThing Anaplasma phagocytophilum tmpak2llvmy_mondo_relaxed.owl Cytoecetes bovis|Rickettsia phagocytophila ovis|Ehrlichia equi|Ehrlichia sp. 'HGE agent'|Ehrlichia phagocytophila|agent of human granulocytic ehrlichiosis|Rickettsia phagocytophila|Cytoecetes phagocytophila|human granulocytic Ehrlichia|Anaplasma phagocytophila|HGE agent PMID:11760958|GC_ID:11|PMID:8195363|PMID:12215262|PMID:1115421 NCBITaxon:75115|NCBITaxon:946|NCBITaxon:59888|NCBITaxon:75053 ncbi_taxonomy owl:Class MONDO:0043895 biolink:NamedThing ankle injury Harm or hurt to the ankle or ankle joint usually inflicted by an external source. tmpak2llvmy_mondo_relaxed.owl injury, ankle|ankle sprain|Injuries, syndesmotic|ankle injury|Injuries, ankle|ankle Sprains|injury of ankle|injury of tarsal region|injury, syndesmotic|sprain, ankle|tarsal region injury|Sprains, ankle|syndesmotic injury|syndesmotic Injuries SCTID:125603006|MESH:D016512|EFO:1001832 owl:Class MONDO:0012678 biolink:NamedThing atrial fibrillation, familial, 5 tmpak2llvmy_mondo_relaxed.owl ATFB5|atrial fibrillation, familial, 5 UMLS:C1969099|MESH:C566932|OMIM:611494 owl:Class MONDO:0013410 biolink:NamedThing 46,XY sex reversal 6 tmpak2llvmy_mondo_relaxed.owl SRXY6|46,XY SEX reversal 6|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY sex reversal 6|46,XY Sex reversal type 6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related DOID:0111769|OMIM:613762|UMLS:C3151064 owl:Class MONDO:0006733 biolink:NamedThing dry eye syndrome A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. tmpak2llvmy_mondo_relaxed.owl keratoconjunctivitis sicca|sicca, keratoconjunctivitis|KCS|tear film insufficiency|eye(s), dry|dry eye|dry eye(s)|dry eye syndrome EFO:1001001|DOID:10140|UMLS:C0022575|MedDRA:10013777|ICD9:375.15|MedDRA:100233350|MESH:D007638|ICD10:H04.12|UMLS:C0013238|DOID:12895|SCTID:46152009|MESH:D015352|SCTID:302896008|NCIT:C34553|EFO:1000906 owl:Class MONDO:0008841 biolink:NamedThing ataxia-telangiectasia with generalized skin pigmentation and early death tmpak2llvmy_mondo_relaxed.owl ataxia-telangiectasia with generalized skin pigmentation and early death MESH:C565930|UMLS:C1859615|OMIM:208910 owl:Class MONDO:0020159 biolink:NamedThing congenital entropion tmpak2llvmy_mondo_relaxed.owl MedDRA:10014923|SCTID:20392000|ICD10:Q10.2|Orphanet:98568 owl:Class MONDO:0016721 biolink:NamedThing pineal tumor of neuroepithelial tissue tmpak2llvmy_mondo_relaxed.owl UMLS:CN201969|Orphanet:251905 owl:Class MONDO:0020431 biolink:NamedThing juxtaposition of the atrial appendages Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. tmpak2llvmy_mondo_relaxed.owl juxtaposition of the atrial auricles ICD10:Q20.8|Orphanet:99100 owl:Class MONDO:0019837 biolink:NamedThing atrial appendage anomaly tmpak2llvmy_mondo_relaxed.owl atrial auricle anomaly Orphanet:95510|ICD10:Q20.8 owl:Class MONDO:0000173 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type C tmpak2llvmy_mondo_relaxed.owl OMIMPS:609308|UMLS:CN262500 owl:Class MONDO:0017732 biolink:NamedThing alpha-mannosidosis, infantile form tmpak2llvmy_mondo_relaxed.owl lysosomal alpha-D-mannosidase deficiency, infantile form ICD10:E77.1|Orphanet:309282 owl:Class MONDO:0030070 biolink:NamedThing heterotaxy, visceral, 9, autosomal, with male infertility tmpak2llvmy_mondo_relaxed.owl heterotaxy, visceral, 9, autosomal, with male infertility|HTX9|HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY OMIM:618948 owl:Class GO:1903054 biolink:NamedThing negative regulation of extracellular matrix organization Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. tmpak2llvmy_mondo_relaxed.owl negative regulation of extracellular matrix organisation|downregulation of extracellular matrix organisation|down regulation of extracellular matrix organisation|down-regulation of extracellular matrix organization|inhibition of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|inhibition of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organisation|down-regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|inhibition of extracellular matrix organisation owl:Class MONDO:0010835 biolink:NamedThing pterygium colli-intellectual disability-digital anomalies syndrome Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. tmpak2llvmy_mondo_relaxed.owl khalifa-Graham syndrome|pterygium colli and mental retardation with facial and digital anomalies|pterygium colli intellectual disability digital anomalies|pterygium colli mental retardation digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies GARD:0004568|ICD10:Q87.0|Orphanet:2988|OMIM:600159|UMLS:C1838562|SCTID:719256004|MESH:C535831 owl:Class MONDO:0008324 biolink:NamedThing pseudoarthrogryposis tmpak2llvmy_mondo_relaxed.owl ankylosis at elbow and knee|pseudoarthrogryposis|hereditary congenital rigidity of elbows and knees OMIM:177300|UMLS:C1867485|MESH:C566753 owl:Class MONDO:0018629 biolink:NamedThing focal stiff limb syndrome tmpak2llvmy_mondo_relaxed.owl focal stiff-person syndrome|Stiff leg syndrome UMLS:CN237672|ICD10:G25.8|Orphanet:443804 owl:Class MONDO:0018890 biolink:NamedThing Lyell syndrome Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. tmpak2llvmy_mondo_relaxed.owl Orphanet:537|ICD10:L51.2|UMLS:CN205258 owl:Class HGNC:6996 biolink:NamedThing MEF2C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023662 biolink:NamedThing lymphatic malformation 10 tmpak2llvmy_mondo_relaxed.owl LMPHM10 OMIM:619369 owl:Class MONDO:0009940 biolink:NamedThing pycnodysostosis Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. tmpak2llvmy_mondo_relaxed.owl pycnodysostosis|Pycd|Pyknodysostosis|PKND DOID:0080038|ICD10:Q78.8|GARD:0004611|NCIT:C131187|SCTID:89647000|UMLS:C0238402|MESH:D058631|OMIM:265800|Orphanet:763 https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis owl:Class MONDO:0014428 biolink:NamedThing autosomal recessive nonsyndromic deafness 102 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 102|deafness, autosomal recessive 102|DFNB102|EPS8 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|autosomal recessive deafness 102|autosomal recessive nonsyndromic deafness 102|deafness, autosomal recessive type 102 OMIM:615974|UMLS:C3892050|ICD10:H90.3|DOID:0110463 owl:Class GO:0019900 biolink:NamedThing kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019899 biolink:NamedThing enzyme binding Binding to an enzyme, a protein with catalytic activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044299 biolink:NamedThing myasthenic syndrome, congenital, 22 tmpak2llvmy_mondo_relaxed.owl Prepl deficiency|CMS22|myasthenic syndrome, congenital, 22 UMLS:C4479088|OMIM:616224|DOID:0080587 owl:Class MONDO:0018632 biolink:NamedThing 11q22.2q22.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 11q22.2q22.3|Del(11)(q22.2q22.3)|monosomy 11q22.2-q22.3|11q22.2-q22.3 deletion syndrome ICD10:Q93.5|UMLS:CN237678|Orphanet:444002 owl:Class MONDO:0008630 biolink:NamedThing urinary bladder, atony of tmpak2llvmy_mondo_relaxed.owl urinary bladder, atony of|atony of urinary bladder OMIM:191800 owl:Class MONDO:0021298 biolink:NamedThing carcinoma in situ of oropharynx A in situ carcinoma that involves the oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharynx in situ carcinoma|stage 0 carcinoma of the oropharynx|carcinoma in situ of oropharynx|stage 0 oropharyngeal carcinoma aJCC v6|carcinoma in situ of the oropharynx|oropharynx carcinoma in situ|oropharyngeal carcinoma in situ|stage 0 carcinoma of oropharynx|stage 0 oropharynx carcinoma|stage 0 oropharyngeal cancer|stage 0 oropharyngeal carcinoma aJCC v7|stage 0 oropharyngeal carcinoma in situ|stage 0 oropharyngeal throat cancer|stage 0 oropharyngeal carcinoma|stage 0 oropharyngeal carcinoma aJCC v6 and v7|oropharyngeal cancer stage 0 NCIT:C4590|UMLS:C0347099|SCTID:92668003 owl:Class UBERON:0011677 biolink:NamedThing trunk vertebra A vertebra in the trunk region. For tetrapods, includes lumbar and thoracic vertebrae. Excludes caudal/coccygeal vertebra, which are located posteriorly. In tetrapods this includes thoracic, lumbar and sacral vertebrae, and excludes the cervical vertebrae, which are located anteriorly. tmpak2llvmy_mondo_relaxed.owl presacral vertebra|thoracolumbar vertebra owl:Class MONDO:0019739 biolink:NamedThing atypical hemolytic-uremic syndrome with anti-factor H antibodies tmpak2llvmy_mondo_relaxed.owl hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|aHUS with anti-factor H antibodies|D-HUS with anti-factor H antibodies|atypical HUS with anti-factor H antibodies UMLS:CN206652|ICD10:D58.8|Orphanet:93581 owl:Class MONDO:0013613 biolink:NamedThing Leber congenital amaurosis 16 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene. tmpak2llvmy_mondo_relaxed.owl KCNJ13 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in KCNJ13|LCA16|Leber congenital amaurosis 16|Leber congenital amaurosis type 16 DOID:0110118|GARD:0010885|OMIM:614186|UMLS:C3280062|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16 owl:Class MONDO:0008885 biolink:NamedThing Elsahy-Waters syndrome An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. tmpak2llvmy_mondo_relaxed.owl hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|hypospadias-hypertelorism-coloboma and deafness syndrome|BSG syndrome|branchio-skeleto-genital syndrome|ELSAHY-Waters syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|Elsahy-Waters syndrome|ESWS|brachioskeletogenital syndrome ICD10:Q87.8|OMIM:603463|UMLS:C1863870|Orphanet:1299|DOID:0080631|Orphanet:157788|MESH:C566373|GARD:0000955|OMIM:211380|MESH:C537084|SCTID:719097002 owl:Class UBERON:0036351 biolink:NamedThing wall of brachiocephalic artery tmpak2llvmy_mondo_relaxed.owl brachiocephalic arterial wall owl:Class UBERON:0013772 biolink:NamedThing left nipple A nipple that is in_the_left_side_of a body proper. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002030 biolink:NamedThing nipple Projection of skin containing the outlets for 15-20 lactiferous ducts arranged cylindrically around the tip. tmpak2llvmy_mondo_relaxed.owl teat|papilla of breast|papillary part of breast|thelium|papilla mammaria|papilla mammae|thele owl:Class GO:0070293 biolink:NamedThing renal absorption A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). tmpak2llvmy_mondo_relaxed.owl renal reabsorption|nephron absorption owl:Class MONDO:0004409 biolink:NamedThing nipple duct carcinoma A carcinoma that develops in the ducts of the nipple. tmpak2llvmy_mondo_relaxed.owl nipple duct carcinoma NCIT:C27234|UMLS:C1334967|DOID:7953 owl:Class MONDO:0033838 biolink:NamedThing radiation-induced plexopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:521123 owl:Class MONDO:0011341 biolink:NamedThing microcephaly, facial abnormalities, micromelia, and intellectual disability tmpak2llvmy_mondo_relaxed.owl microcephaly, facial abnormalities, micromelia, and mental retardation|microcephaly, facial abnormalities, micromelia, and intellectual disability UMLS:C1863702|MESH:C566361|OMIM:603572 owl:Class CHEBI:83813 biolink:NamedThing proteinogenic amino acid Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. tmpak2llvmy_mondo_relaxed.owl canonical amino acids|canonical amino acid|proteinogenic amino acids owl:Class MONDO:0011773 biolink:NamedThing anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. tmpak2llvmy_mondo_relaxed.owl anauxetic dysplasia type 1|anauxetic dysplasia|ANXD1|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia Menger type|spondylometaepiphyseal dysplasia anauxetic type|anauxetic dysplasia 1|spondyloepimetaphyseal dysplasia, Menger type|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, Menger type MESH:C538256|OMIMPS:607095|UMLS:C1846796|ICD10:Q77.7|UMLS:CN029084|GARD:0009657|Orphanet:93347|DOID:0050640 Editor note: consider distinct subclass for type 1 owl:Class CL:0000035 biolink:NamedThing single fate stem cell A stem cell that self-renews as well as give rise to a single mature cell type. tmpak2llvmy_mondo_relaxed.owl unipotent stem cell|unipotential stem cell FMA:70569 cell owl:Class MONDO:0044202 biolink:NamedThing episodic kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. tmpak2llvmy_mondo_relaxed.owl familial PKD|paroxysmal kinesigenic choreathetosis|EKD|familial paroxysmal kinesigenic dyskinesia Orphanet:98809|OMIMPS:128200 owl:Class CHEBI:33597 biolink:NamedThing homocyclic compound A cyclic compound having as ring members atoms of the same element only. tmpak2llvmy_mondo_relaxed.owl isocyclic compounds|homocyclic compounds|homocyclic compound owl:Class MONDO:0018830 biolink:NamedThing Kimura disease Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. tmpak2llvmy_mondo_relaxed.owl eosinophilic lymphogranuloma|eosinophilic lymphofollicular granuloma|eosinophilic hyperplastic lymphogranuloma|eosinophilic granuloma of soft tissue|eosinophilic lymphofolliculosis|Kimura's disease|angiolymphoid hyperplasia with eosinophilia ICD10:I89.8|NCIT:C26867|MESH:D000796|EFO:1000722|MedDRA:10048640|GARD:0006835|UMLS:C0033838|DOID:7365|Orphanet:482|Wikipedia:Kimura's_disease https://github.com/monarch-initiative/mondo/issues/3599|https://rarediseases.info.nih.gov/diseases/6835/kimura-disease owl:Class MONDO:0015720 biolink:NamedThing moderately severe hemophilia A Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl moderately severe hemophilia type A|moderately severe factor VIII deficiency UMLS:CN200231|Orphanet:169805|ICD10:D66 owl:Class UBERON:0003261 biolink:NamedThing thyroid primordium endoderm An endoderm that is part of a thyroid primordium. tmpak2llvmy_mondo_relaxed.owl endoderm of thyroid primordium owl:Class MONDO:0018106 biolink:NamedThing hereditary xanthinuria Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. tmpak2llvmy_mondo_relaxed.owl xanthinuria|xanthic urolithiasis|xanthine dehydrogenase deficiency|hereditary xanthinuria|classic xanthinuria|xanthine stone disease ICD10:E79.8|Orphanet:3467|ICD9:277.2|DOID:0060236|HP:0010934|SCTID:54627004|OMIMPS:278300 owl:Class GO:0071071 biolink:NamedThing regulation of phospholipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpak2llvmy_mondo_relaxed.owl regulation of phospholipid anabolism|regulation of phospholipid formation|regulation of phospholipid synthesis|regulation of phospholipid biosynthesis owl:Class MONDO:0007626 biolink:NamedThing familial congenital palsy of trochlear nerve An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl fourth cranial nerve palsy, familial congenital|strabismus from Superior oblique palsy|hereditary fourth cranial nerve palsy|trochlear nerve palsy, familial congenital|superior oblique oculomotor palsy, familial congenital MESH:C565007|UMLS:C1850996|ICD10:H49.1|GARD:0010355|OMIM:136480|Orphanet:91498 https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve owl:Class MONDO:0020256 biolink:NamedThing congenital trochlear nerve palsy tmpak2llvmy_mondo_relaxed.owl congenital superior oblique palsy|congenital fourth cranial nerve palsy|congenital CNIV palsy ICD10:H49.1|Orphanet:98686 owl:Class MONDO:0000577 biolink:NamedThing congenital anemia Anemia, the cause of which is present at birth. tmpak2llvmy_mondo_relaxed.owl congenital anemia (disease)|congenital anemia SCTID:63565007|UMLS:C0158995|NCIT:C35228 owl:Class MONDO:0001951 biolink:NamedThing Norwegian scabies A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. tmpak2llvmy_mondo_relaxed.owl seven year itch|crusted scabies NCIT:C34855|DOID:14374|UMLS:C0028425|GARD:0012151|SCTID:128870005 owl:Class MONDO:0010858 biolink:NamedThing macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly OMIM:600302|MESH:C563963|UMLS:C1838281|Orphanet:2429|ICD10:Q87.8|SCTID:716108004 owl:Class MONDO:0009450 biolink:NamedThing ciliary dyskinesia with excessively long cilia tmpak2llvmy_mondo_relaxed.owl immotile cilia syndrome due to excessively long cilia|ciliary dyskinesia with excessively long cilia MESH:C536287|SCTID:233665006|OMIM:242680|GARD:0002982|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia owl:Class HP:0030680 biolink:NamedThing Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. tmpak2llvmy_mondo_relaxed.owl Cardiovascular malformations UMLS:C4049796 HP:0001632|HP:0002565|HP:0002564 human_phenotype owl:Class MONDO:0023699 biolink:NamedThing Maroteaux Fonfria syndrome tmpak2llvmy_mondo_relaxed.owl apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet GARD:0003397|UMLS:C2931088|MESH:C536023 https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome owl:Class UBERON:0009959 biolink:NamedThing lumen of oropharynx A anatomical space that is enclosed by a oropharynx. tmpak2llvmy_mondo_relaxed.owl oropharynx lumen|oropharyngeal cavity owl:Class MONDO:0013235 biolink:NamedThing pancreatic cancer, susceptibility to, 2 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. tmpak2llvmy_mondo_relaxed.owl pancreatic cancer, susceptibility to, 2|BRCA2 familial pancreatic carcinoma|Pnca2|susceptibility to pancreatic cancer 2|familial pancreatic carcinoma caused by mutation in BRCA2|pancreatic cancer, susceptibility to, type 2 OMIM:613347 owl:Class ENVO:01001478 biolink:NamedThing gaseous astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010884 biolink:NamedThing muscular dystrophy, scapulohumeral tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, scapulohumeral OMIM:600416|UMLS:C0410192|MESH:C562932|SCTID:240074006 owl:Class MONDO:0023581 biolink:NamedThing Kuster syndrome tmpak2llvmy_mondo_relaxed.owl cleft lip palate lip pits limb deficiency|cleft lip and palate, lower lip pits, and limb deficiency defects MESH:C538126|UMLS:C2931741|GARD:0003152 https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome owl:Class MONDO:0018217 biolink:NamedThing Koolen-de Vries syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:363965|UMLS:CN204741|ICD10:Q93.5 owl:Class MONDO:0012496 biolink:NamedThing Koolen de Vries syndrome Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. tmpak2llvmy_mondo_relaxed.owl chromosome 17q21.31 deletion syndrome|KdVS|microdeletion 17q21.31 syndrome|chromosome 17q21.31 microdeletion syndrome|chromosome 17Q21.31 deletion syndrome|KDVS|microdeletion 17Q21.31 syndrome|Koolen-De Vries syndrome|KANSL1-related intellectual disability syndrome|17q21.31 deletion syndrome|Koolen-DE Vries syndrome|Koolen de Vries syndrome ICD10:Q93.5|UMLS:C1864871|DOID:0070076|Orphanet:96169|UMLS:CN776874|GARD:0010727|SCTID:717338006|MESH:C566476|DOID:0050880|OMIM:610443 Editor note: DOID classifies as non-syndromic but we classify as syndromic owl:Class MONDO:0008475 biolink:NamedThing spondylolisthesis A condition in which there is forward displacement of a vertebral bone over the on below it. tmpak2llvmy_mondo_relaxed.owl spondylolisthesis (disease)|spondylolisthesis spondylolisthesis (disease) OMIM:184200|EFO:0007493|SCTID:274152003|HP:0003302|UMLS:C0038016|ICD10:M43.1|MESH:D013168|NCIT:C35033|ICD10:M43.10|DOID:6682 owl:Class MONDO:0013577 biolink:NamedThing Lipedema Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. tmpak2llvmy_mondo_relaxed.owl Lipedema (disease)|lipedema Lipedema (disease) ICD10:E65|HP:0100695|OMIM:614103|Orphanet:77243|MESH:D065134|SCTID:234102003|MedDRA:10063955 owl:Class MONDO:0002670 biolink:NamedThing ampulla of vater adenocarcinoma A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla tmpak2llvmy_mondo_relaxed.owl ampulla of Vater adenocarcinoma|adenocarcinoma of ampulla of Vater|ampullary adenocarcinoma|adenocarcinoma of ampulla of vater|hepatopancreatic ampulla adenocarcinoma|invasive adenocarcinoma of the ampullary region UMLS:C1332243|EFO:0008490|DOID:3502|NCIT:C6650 owl:Class GO:0015696 biolink:NamedThing ammonium transport The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals. tmpak2llvmy_mondo_relaxed.owl ammonia transport owl:Class UBERON:0011277 biolink:NamedThing nail of manual digit 5 A nail that is part of a manual digit 5. tmpak2llvmy_mondo_relaxed.owl nail plate of little finger|claw of digit 5 of fore-paw|nail of little finger|nail of fifth finger|nail of manual digit V|little finger nail owl:Class MONDO:0009885 biolink:NamedThing Scott syndrome Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. tmpak2llvmy_mondo_relaxed.owl bleeding Abnormality due to deficiency of Platelet binding of Factor 10|prothrombin conversion defect, familial|BDPLT7|familial prothrombin conversion defect|platelet-type bleeding disorder 7|prothrombin consumption inhibitor, familial|SCTS|prothrombin consumption deficiency|Platelet factor X receptor deficiency|familial prothrombin consumption inhibitor|bleeding abnormality due to deficiency of platelet biding of factor X|bleeding disorder, Platelet-type, 7|Scott syndrome SCTID:128098009|ICD10:D69.8|OMIM:262890|GARD:0004777|Orphanet:806|DOID:0111052|UMLS:C0796149|MESH:C563120 https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome owl:Class CHEBI:37246 biolink:NamedThing elemental sodium tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030195 biolink:NamedThing negative regulation of blood coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. tmpak2llvmy_mondo_relaxed.owl downregulation of blood coagulation|down-regulation of blood coagulation|down regulation of blood coagulation|inhibition of blood coagulation owl:Class GO:0061045 biolink:NamedThing negative regulation of wound healing Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003337 biolink:NamedThing serosa of jejunum A serous membrane that is part of a jejunum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl visceral peritoneum of jejunum|jejunal serosa|jejunum serous membrane|serous membrane of jejunum|jejunum serosa owl:Class MONDO:0009963 biolink:NamedThing Ulbright-Hodes syndrome Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl renal dysplasia-limb defects syndrome|renal dysplasia, mesomelia, and radiohumeral fusion|renal dysplasia-mesomelia-radiohumeral fusion syndrome|Ulbright Hodes syndrome|renal dysplasia limb defects syndrome|RL syndrome SCTID:719840003|Orphanet:3404|OMIM:266910|UMLS:C1849438|MESH:C537754|ICD10:Q87.8|GARD:0005394 owl:Class CL:0005000 biolink:NamedThing spinal cord interneuron A CNS interneuron located in the spinal cord. tmpak2llvmy_mondo_relaxed.owl Is_a interneuron, part_of UBERON:0002240. cell owl:Class HGNC:620 biolink:NamedThing APP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015630 biolink:NamedThing von Willebrand disease type 2M Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. tmpak2llvmy_mondo_relaxed.owl von Willebrand disease, type 2M ICD10:D68.0|SCTID:359725000|SCTID:359729006|Orphanet:166090|NCIT:C131688|UMLS:C1282974 Editor note: 2 sctitds refer to same disease owl:Class HP:0002149 biolink:NamedThing Hyperuricemia An abnormally high level of uric acid in the blood. tmpak2llvmy_mondo_relaxed.owl High blood uric acid level|Hyperuricaemia UMLS:C0740394|MSH:D033461|SNOMEDCT_US:35885006 human_phenotype owl:Class HP:0002157 biolink:NamedThing Azotemia An increased concentration of nitrogen compounds in the blood. tmpak2llvmy_mondo_relaxed.owl Azotaemia SNOMEDCT_US:445009001|MSH:D053099|UMLS:C0242528 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. human_phenotype owl:Class MONDO:0007180 biolink:NamedThing Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities tmpak2llvmy_mondo_relaxed.owl Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|De Hauwere syndrome|iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness OMIM:109120|Orphanet:1831|MESH:C566234|UMLS:C1862373 owl:Class HP:0001966 biolink:NamedThing Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. tmpak2llvmy_mondo_relaxed.owl Abnormality of the glomerular mesangium|Abnormality glomerular mesangium morphology|Mesangial abnormality UMLS:C4025733 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. human_phenotype owl:Class MONDO:0015300 biolink:NamedThing cataract - microcornea syndrome Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. tmpak2llvmy_mondo_relaxed.owl cataract microcornea syndrome|microcornea cataract syndrome Orphanet:1377|ICD10:Q13.8|GARD:0001155|MESH:C538287 https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome owl:Class GO:0051703 biolink:NamedThing biological process involved in intraspecies interaction between organisms Any process in which an organism has an effect on an organism of the same species. tmpak2llvmy_mondo_relaxed.owl intraspecies interaction between organisms|intraspecies interaction with other organisms owl:Class MONDO:0021003 biolink:NamedThing polydactyly A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. tmpak2llvmy_mondo_relaxed.owl postaxial polydactyly|polydactyly (disease)|polydactylism|polydactyly|hyperdactyly|supernumerary digit polydactyly (disease) ICD10:Q69|ICD10:Q69.2|SCTID:367506006|HP:0010442|ICD10:Q69.1|ICD10:Q69.0|ICD9:755.0|OMIM:603596|NCIT:C87110|MedDRA:10036063|DOID:1148|ICD10:Q69.9|ICD9:755.00 owl:Class CHEBI:73263 biolink:NamedThing cyclooxygenase 3 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3. tmpak2llvmy_mondo_relaxed.owl cyclooxygenase 3 inhibitors|COX-3 inhibitor|cyclo-oxygenase 3 inhibitors|cyclo-oxygenase 3 inhibitor|cyclooxygenase-3 inhibitor|cyclooxygenase-3 inhibitors|COX-3 inhibitors owl:Class CHEBI:35544 biolink:NamedThing EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes. tmpak2llvmy_mondo_relaxed.owl PG synthetase inhibitors|prostaglandin synthetase inhibitors|PG synthetase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitors|prostaglandin synthase inhibitor|(PG)H synthase inhibitors|prostaglandin synthase inhibitors|prostaglandin synthetase inhibitor|prostaglandin endoperoxide synthetase inhibitors|(PG)H synthase inhibitor|prostaglandin endoperoxide synthetase inhibitor|prostaglandin G/H synthase inhibitor|fatty acid cyclooxygenase inhibitors|fatty acid cyclooxygenase inhibitor|EC 1.14.99.1 inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitor|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|cyclooxygenase inhibitor|COX inhibitor|EC 1.14.99.1 inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|prostaglandin G/H synthase inhibitors|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|cyclooxygenase (EC 1.14.99.1) inhibitors|cyclooxygenase inhibitors owl:Class NCIT:C12378 biolink:NamedThing Digestive System tmpak2llvmy_mondo_relaxed.owl IMDRF:E10 owl:Class NCIT:C12919 biolink:NamedThing Organ System tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009064 biolink:NamedThing glutamine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpak2llvmy_mondo_relaxed.owl glutamine family amino acid metabolism owl:Class NCBITaxon:6201 biolink:NamedThing Cyclophyllidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005316 biolink:NamedThing bacterial vaginosis Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. tmpak2llvmy_mondo_relaxed.owl BV UMLS:C0085166|DOID:3385|SCTID:419760006|EFO:0003932|NCIT:C116973|MESH:D016585 owl:Class NCBITaxon:5810 biolink:NamedThing Toxoplasma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001741 biolink:NamedThing hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism EFO:0008506|MESH:D006961|ICD9:252.00|ICD10:E21.3|DOID:13543|SCTID:66999008|ICD9:252.0|UMLS:C0020502|NCIT:C48259 owl:Class MONDO:0013694 biolink:NamedThing intellectual disability, autosomal recessive 31 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 31|intellectual disability, autosomal recessive 31|MRT31 OMIM:614329|UMLS:C3280523 owl:Class MONDO:0017899 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). tmpak2llvmy_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant|autosomal dominant MSMD due to a partial deficiency 2022-03-01 Orphanet:319543|ICD10:D84.8|UMLS:CN203955 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class MONDO:0007349 biolink:NamedThing familial cold autoinflammatory syndrome 1 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. tmpak2llvmy_mondo_relaxed.owl Fcas|familial cold autoinflammatory syndrome 1|FCAS1|cold-induced autoinflammatory syndrome, familial|NLRP3 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome type 1|cold hypersensitivity|familial cold autoinflammatory syndrome caused by mutation in NLRP3|Cryopyrin-associated periodic syndrome 1|cold urticaria, familial SCTID:238687000|ICD10:L50.2|DOID:0090062|OMIM:120100 owl:Class MONDO:0018768 biolink:NamedThing familial cold autoinflammatory syndrome Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. tmpak2llvmy_mondo_relaxed.owl familial polymorphous cold eruption|familial cold urticaria|FCAS|familial cold autoinflammatory syndrome|FCU NCIT:C119053|UMLS:CN230757|MedDRA:10064570|ICD10:L50.2|Orphanet:47045|DOID:0090061|OMIMPS:120100|UMLS:C0343068|GARD:0009535 owl:Class MONDO:0006438 biolink:NamedThing synovial chondromatosis Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. tmpak2llvmy_mondo_relaxed.owl Henderson-Jones syndrome|synovial osteochondromatosis|Reichel's syndrome NCIT:C34467|MESH:D015838|UMLS:C0008476|GARD:0006054|EFO:1000557 https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis owl:Class MONDO:0001857 biolink:NamedThing Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. tmpak2llvmy_mondo_relaxed.owl SCTID:428174001|ICD9:023.3|ICD10:A23.3|DOID:14019|UMLS:C0494040 owl:Class MONDO:0007203 biolink:NamedThing blue rubber bleb nevus Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. tmpak2llvmy_mondo_relaxed.owl blue rubber bleb nevus|blue rubber bleb nevus syndrome|bean syndrome|BRBNS|BRBN ICD10:Q27.8|SCTID:254784002|NCIT:C4486|MESH:C536240|GARD:0005940|UMLS:C0346072|Orphanet:1059|OMIM:112200 owl:Class MONDO:0014488 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 5 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, 5|type 2 diabetes mellitus caused by mutation in TBC1D4|diabetes mellitus, noninsulin-dependent, type 5|NIDDM5|TBC1D4 type 2 diabetes mellitus OMIM:616087|UMLS:C4015183 owl:Class MONDO:0011421 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. tmpak2llvmy_mondo_relaxed.owl Complex 5 mitochondrial respiratory chain deficiency|MC5DN1|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2|mitochondrial complex V deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency ICD10:E88.8|OMIM:604273|DOID:0050768|GARD:0001459|UMLS:C3276276 https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency owl:Class HGNC:2799 biolink:NamedThing GRHL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010096 biolink:NamedThing tardive dyskinesia tmpak2llvmy_mondo_relaxed.owl tardive dyskinesia (disease)|tardive dyskinesia tardive dyskinesia (disease) SCTID:102449007|HP:0040141|UMLS:C0686347|OMIM:272620 owl:Class GO:0034404 biolink:NamedThing nucleobase-containing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpak2llvmy_mondo_relaxed.owl nucleobase, nucleoside and nucleotide formation|nucleobase, nucleoside and nucleotide biosynthesis|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide synthesis owl:Class HP:0001710 biolink:NamedThing Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. tmpak2llvmy_mondo_relaxed.owl Conotruncal heart defects UMLS:C1853238 human_phenotype owl:Class HP:0011563 biolink:NamedThing Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. tmpak2llvmy_mondo_relaxed.owl Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection UMLS:C4023296 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. peter 2012-04-08T07:32:38Z human_phenotype owl:Class MONDO:0018019 biolink:NamedThing lead poisoning 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. tmpak2llvmy_mondo_relaxed.owl plumbism|saturnism|Lead intoxication SCTID:38342005|MESH:D007855|ICD9:984.8|ICD9:984.9|ICD10:T56.0|Orphanet:330015 owl:Class MONDO:0003636 biolink:NamedThing vulvar sebaceous carcinoma A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. tmpak2llvmy_mondo_relaxed.owl mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva DOID:5761|UMLS:C1520094|NCIT:C40309 owl:Class MONDO:0019563 biolink:NamedThing CREST syndrome CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. tmpak2llvmy_mondo_relaxed.owl calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|limited cutaneous Systemic sclerosis|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|CRST syndromes|syndrome, CREST|lcSSc|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|CRST syndrome|limited cutaneous Systemic Scleroderma DOID:0060218|GARD:0012430|SCTID:31848007|Orphanet:90290|UMLS:C0206138|MESH:D017675|MedDRA:10011380|NCIT:C70646|ICD10:M34.1 owl:Class MONDO:0012436 biolink:NamedThing neonatal diabetes mellitus with congenital hypothyroidism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, neonatal, with congenital hypothyroidism|neonatal diabetes mellitus with congenital hypothyroidism|NDH syndrome|NDH|Ndh syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome UMLS:C1857775|MESH:C565705|DOID:0060638|Orphanet:79118|OMIM:610199 owl:Class NCBITaxon:34619 biolink:NamedThing Dermacentor tmpak2llvmy_mondo_relaxed.owl Anocentor GC_ID:1 NCBITaxon:139398 ncbi_taxonomy owl:Class NCIT:C36869 biolink:NamedThing Spindle Melanocyte tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C36823 biolink:NamedThing Neoplastic Spindle Cell tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000018263 biolink:NamedThing amino acid chain tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:155616 biolink:NamedThing Tremellomycetes tmpak2llvmy_mondo_relaxed.owl Heterobasidiomycetes|Tremellomycetidae GC_ID:1|PMID:26955199 NCBITaxon:165804|NCBITaxon:165805 ncbi_taxonomy owl:Class MONDO:0018039 biolink:NamedThing selective IgM deficiency Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. tmpak2llvmy_mondo_relaxed.owl selective immunoglobulin M deficiency|SIgMD|selective IgM deficiency disease ICD10:D80.4|DOID:0050222|ICD9:279.02|SCTID:190980000|Orphanet:331235|GARD:0012547 https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency owl:Class UBERON:0003898 biolink:NamedThing skeletal muscle tissue of trunk A portion of skeletal muscle tissue in the trunk. tmpak2llvmy_mondo_relaxed.owl skeletal muscle tissue of trunk|torso skeletal muscle|trunk skeletal muscle tissue|trunk skeletal muscle|skeletal muscle of torso|torso skeletal muscle tissue|skeletal muscle tissue of torso owl:Class MONDO:0014702 biolink:NamedThing autosomal recessive complex spastic paraplegia type 9B Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia type 9B|autosomal recessive spastic paraplegia 9B|spastic paraplegia 9B, autosomal recessive|ALDH18A1 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia 9B|autosomal recessive complex spastic paraplegia type 9B|AR-SPG9B|SPG9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1 ICD10:G11.4|Orphanet:447760|DOID:0110825|OMIM:616586|UMLS:C4225272 Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8 owl:Class MONDO:0054732 biolink:NamedThing spermatogenic failure 28 tmpak2llvmy_mondo_relaxed.owl SPGF28|spermatogenic failure 28 OMIM:618086 owl:Class MONDO:0009776 biolink:NamedThing spermatogenic failure 1 tmpak2llvmy_mondo_relaxed.owl Oligosynaptic infertility|SPGF1|Oligochiasmatic infertility|spermatogenic failure 1 SCTID:236803007|DOID:0070188|Orphanet:217034|UMLS:C0403810|OMIM:258150|MESH:C562902 owl:Class MONDO:0011593 biolink:NamedThing seizures, benign familial infantile, 2 tmpak2llvmy_mondo_relaxed.owl seizures, benign familial infantile, 2|seizures, benign familial infantile, type 2|BFIS2|convulsions, benign familial infantile, 2 OMIM:605751|MESH:C565296|UMLS:C1853995 owl:Class MONDO:0009342 biolink:NamedThing Hirschsprung disease-deafness-polydactyly syndrome Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness|Santos Mateus Leal syndrome|Santos-Mateus-Leal syndrome ICD10:Q43.1|GARD:0000157|Orphanet:2155|SCTID:721221000|MESH:C565518|OMIM:235740 owl:Class MONDO:0010455 biolink:NamedThing X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. tmpak2llvmy_mondo_relaxed.owl XMEN|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia|combined immunodeficiency due to MAGT1 deficiency|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia OMIM:300853|SCTID:711481001|DOID:0080319|Orphanet:317476|UMLS:C3275445|ICD10:D81.8|GARD:0010907 owl:Class MONDO:0008628 biolink:NamedThing ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. tmpak2llvmy_mondo_relaxed.owl ureterocele (disease)|ureterocele ureterocele (disease) DOID:4022|MedDRA:10056433|HP:0000070|OMIM:191650|MESH:D014518|EFO:1001227|SCTID:12818004|ICD9:593.89|NCIT:C123159 owl:Class HP:0001153 biolink:NamedThing Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. tmpak2llvmy_mondo_relaxed.owl Double vagina UMLS:C0266411|SNOMEDCT_US:47054003 human_phenotype owl:Class HP:0000142 biolink:NamedThing Abnormal vagina morphology Any structural abnormality of the vagina. tmpak2llvmy_mondo_relaxed.owl Vaginal malformation UMLS:C1856023 HP:0008650 human_phenotype owl:Class MONDO:0009423 biolink:NamedThing hypokalemic alkalosis, familial, with specific renal tubulopathy tmpak2llvmy_mondo_relaxed.owl hypokalemia, familial|hypokalemic alkalosis, familial, with specific renal tubulopathy|Gullner syndrome SCTID:81987005|OMIM:241150|MESH:C562654|UMLS:C0268444 owl:Class NCBITaxon:2683628 biolink:NamedThing Bigyra tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33634 biolink:NamedThing Stramenopiles tmpak2llvmy_mondo_relaxed.owl Straminipila|heterokonts|Chromophyta|Heterokonta GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033044 biolink:NamedThing Meckel syndrome 13 tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 29|MKS13|Meckel syndrome 13|Meckel syndrome, type 13 DOID:0080253|DOID:0080276|OMIM:617562 owl:Class CL:0001200 biolink:NamedThing lymphocyte of B lineage, CD19-positive A lymphocyte of B lineage that is CD19-positive. tmpak2llvmy_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). https://orcid.org/0000-0001-9990-8331 cell owl:Class MONDO:0004155 biolink:NamedThing adult central nervous system embryonal carcinoma A embryonal carcinoma of the central nervous system that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl embryonal carcinoma of the central nervous system of adults|embryonal carcinoma of adult central nervous system|adult central nervous system embryonal carcinoma|embryonal carcinoma of adult CNS|embryonal carcinoma of the adult CNS|Central nervous system embryonal carcinoma|embryonal carcinoma of the adult central nervous system|adult CNS embryonal carcinoma|adult embryonal carcinoma of the central nervous system DOID:7233|NCIT:C5790|UMLS:C1370503 owl:Class CL:0010011 biolink:NamedThing cerebral cortex GABAergic interneuron A GABAergic interneuron whose soma is located in the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0010012 biolink:NamedThing cerebral cortex neuron A neuron that is part_of a cerebral cortex. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024382 biolink:NamedThing circadian rhythm sleep disorder, shift work type A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors. tmpak2llvmy_mondo_relaxed.owl shift work disorder|circadian rhythm sleep disorder of shift work type ICD10:G47.26|SCTID:713498009 owl:Class CHEBI:35693 biolink:NamedThing dicarboxylic acid anion tmpak2llvmy_mondo_relaxed.owl dicarboxylic acid anions|dicarboxylic acid anion owl:Class MONDO:0012571 biolink:NamedThing primary ciliary dyskinesia 6 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene. tmpak2llvmy_mondo_relaxed.owl CILD6|ciliary dyskinesia, primary, type 6|primary ciliary dyskinesia caused by mutation in NME8|NME8 primary ciliary dyskinesia|primary ciliary dyskinesia type 6|ciliary dyskinesia, primary, 6 UMLS:C1970506|MESH:C567057|DOID:0110606|ICD10:Q34.8|OMIM:610852 owl:Class MONDO:0010745 biolink:NamedThing beta-thalassemia-X-linked thrombocytopenia syndrome Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia with BETA-thalassemia, X-linked|XLTT|thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|X-linked thrombocytopenia with Beta-thalassemia SCTID:718196002|Orphanet:231393|UMLS:C1839161|MESH:C564050|ICD10:D69.4|OMIM:314050|NCIT:C134941|DOID:0111767 owl:Class MONDO:0016492 biolink:NamedThing beta-thalassemia with other manifestations Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:231386|ICD10:D58.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: beta-thalassemia and related diseases' MONDO_0017145 owl:Class MONDO:0020733 biolink:NamedThing proximal symphalangism 1A tmpak2llvmy_mondo_relaxed.owl symphalangism, proximal, 1A|hereditary absence of the proximal interphalangeal joints|symphalangism, proximal, type 1A|SYM1A|Sym1|Cushing symphalangism UMLS:C3714899|OMIM:185800 owl:Class CHEBI:36829 biolink:NamedThing polyatomic monoanion tmpak2llvmy_mondo_relaxed.owl polyatomic monoanions owl:Class CHEBI:36830 biolink:NamedThing monoanion tmpak2llvmy_mondo_relaxed.owl monoanions owl:Class UBERON:0001746 biolink:NamedThing capsule of thyroid gland tmpak2llvmy_mondo_relaxed.owl thyroid capsule|fibrous capsule of thyroid gland|capsula fibrosa glandulae thyroideae|thyroid gland capsule owl:Class MONDO:0010283 biolink:NamedThing syndromic X-linked intellectual disability Lubs type Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. tmpak2llvmy_mondo_relaxed.owl XLMR syndrome, Lubs type|Lubs X-linked intellectual disability syndrome (formerly)|Lubs X-linked intellectual disability syndrome|Lubs X-linked mental retardation syndrome|MRXSL|MECP2 Duplication syndrome|syndromic X-linked intellectual disability Lubs type|MECP2 duplication syndrome|mental retardation, X-linked, with recurrent respiratory infections|X-linked intellectual disability-hypotonia-recurrent infections syndrome|mental retardation, X-linked, Lubs type (formerly)|telomeric duplication Xq|intellectual disability, X-linked, Lubs type (formerly)|intellectual disability, X-linked, syndromic, Lubs type|trisomy Xq28|mental retardation, X-linked, syndromic, Lubs type|distal duplication Xq|Lubs X-linked mental retardation syndrome (formerly)|intellectual disability, X-linked, with recurrent respiratory infections ICD10:Q87.8|ICD9:758.89|OMIM:300260|UMLS:C1846058|MESH:C537723|SCTID:702816000|NCIT:C126747|ICD10:Q99.8|DOID:0060799|GARD:0009781|Orphanet:1762 owl:Class HGNC:6717 biolink:NamedThing LTBP4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002424 biolink:NamedThing DN2b thymocyte A DN2 thymocyte that is Kit-low. tmpak2llvmy_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:08Z cell owl:Class CL:0000806 biolink:NamedThing DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. tmpak2llvmy_mondo_relaxed.owl preT.DN2.Th|DN2 alpha-beta immature T-lymphocyte|double negative 2|TN2 thymocyte|DN2 cell|DN2 alpha-beta immature T-cell|DN2 alpha-beta immature T lymphocyte|DN2 immature T cell|TN2 cell Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. cell owl:Class MONDO:0010754 biolink:NamedThing van den Bosch syndrome Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. tmpak2llvmy_mondo_relaxed.owl mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity|van den Bosch syndrome SCTID:733110004|UMLS:C0796192|GARD:0005453|Orphanet:3417|OMIM:314500|MESH:C563129 https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome owl:Class CL:0000081 biolink:NamedThing blood cell A cell found predominately in the blood. tmpak2llvmy_mondo_relaxed.owl FMA:62844 cell owl:Class MONDO:0012188 biolink:NamedThing neuronal ceroid lipofuscinosis 9 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpak2llvmy_mondo_relaxed.owl CLN9|neuronal ceroid lipofuscinosis type 9|CLN9 disease|ceroid lipofuscinosis, neuronal, 9|CLN 9 Orphanet:228357|MESH:C537953|OMIM:609055|DOID:0110733|GARD:0006618|ICD10:E75.4 https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 owl:Class UBERON:0004581 biolink:NamedThing systemic venous system The part of the venous system that drains the general body tissues[Kardong] tmpak2llvmy_mondo_relaxed.owl systemic venous circulatory system owl:Class MONDO:0017683 biolink:NamedThing methylcobalamin deficiency type cblDv1 tmpak2llvmy_mondo_relaxed.owl functional methionine synthase deficiency type cblDv1 ICD10:E72.1|Orphanet:308380|UMLS:CN203574 owl:Class MONDO:0018588 biolink:NamedThing ALECT2 amyloidosis A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. tmpak2llvmy_mondo_relaxed.owl leukocyte chemotactic factor-2 amyloidosis|LECT2 amyloidosis Orphanet:439224|ICD10:E85.8 owl:Class MONDO:0018927 biolink:NamedThing SUNCT syndrome SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). tmpak2llvmy_mondo_relaxed.owl SUNCT headache|short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing MedDRA:10061981|NCIT:C85174|SCTID:725058003|GARD:0009257|ICD10:G44.8|UMLS:C1262087|MESH:D050798|Orphanet:57145 owl:Class CHEBI:50313 biolink:NamedThing onium cation Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. tmpak2llvmy_mondo_relaxed.owl onium ion|onium cations|onium ions owl:Class MONDO:0016544 biolink:NamedThing IgG4-related mesenteritis Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). tmpak2llvmy_mondo_relaxed.owl sclerosing mesenteritis|lipomatous mesenteritis|mesenteric lipogranuloma|mesenteric panniculitis|liposclerotic mesenteritis|isolated mesenteric lipodystrophy ICD10:K65.8|GARD:0008169|Orphanet:238593|SCTID:1092381000119100 owl:Class GO:0019747 biolink:NamedThing regulation of isoprenoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. tmpak2llvmy_mondo_relaxed.owl regulation of isoprenoid metabolism owl:Class MONDO:0020267 biolink:NamedThing genetic keratinization disorder associated with ocular features tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227842|Orphanet:98697 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo.Term to consider: inherited ichthyosis syndromic form' MONDO_0017263 owl:Class MONDO:0019617 biolink:NamedThing pituitary deficiency due to empty sella turcica syndrome tmpak2llvmy_mondo_relaxed.owl hypopituitarism due to empty sella turcica syndrome Orphanet:91354|UMLS:CN206468|SCTID:715668008|UMLS:C4275064|ICD10:E23.0 owl:Class MONDO:0019834 biolink:NamedThing pituitary hormone deficiency from meningeal origin tmpak2llvmy_mondo_relaxed.owl Orphanet:95505 owl:Class GO:0030258 biolink:NamedThing lipid modification The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017165 biolink:NamedThing bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. tmpak2llvmy_mondo_relaxed.owl SCTID:717047007|UMLS:C4274079|Orphanet:276066 owl:Class SO:0000946 biolink:NamedThing integration_excision_site A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site. tmpak2llvmy_mondo_relaxed.owl integration excision site|attachment site owl:Class SO:0000342 biolink:NamedThing site_specific_recombination_target_region A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis. tmpak2llvmy_mondo_relaxed.owl site specific recombination target region owl:Class GO:0008607 biolink:NamedThing phosphorylase kinase regulator activity Modulation of the activity of the enzyme phosphorylase kinase. tmpak2llvmy_mondo_relaxed.owl phosphorylase kinase, intrinsic regulator activity owl:Class MONDO:0014832 biolink:NamedThing intellectual disability, autosomal recessive 53 tmpak2llvmy_mondo_relaxed.owl MRT53|GPIBD13|congenital disorder of glycosylation due to PIGG deficiency|mental retardation, autosomal recessive 53|intellectual disability, autosomal recessive 53|glycosylphosphatidylinositol biosynthesis defect 13|intellectual disability, autosomal recessive type 53|early-onset epilepsy-intellectual disability-brain anomalies syndrome|mental retardation, autosomal recessive type 53|PIGG-CDG Orphanet:488635|OMIM:616917|UMLS:C4310794 MONDO:0024253 owl:Class CHEBI:50249 biolink:NamedThing anticoagulant An agent that prevents blood clotting. tmpak2llvmy_mondo_relaxed.owl anticoagulants|anticoagulante owl:Class CHEBI:50248 biolink:NamedThing hematologic agent Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. tmpak2llvmy_mondo_relaxed.owl hematologic agents owl:Class MONDO:0003528 biolink:NamedThing Volkmann contracture An ischemic contracture of the forearm that most often occurs secondary to trauma. tmpak2llvmy_mondo_relaxed.owl Volkmann's ischemic contracture DOID:5587|NCIT:C35130|ICD10:T79.6|ICD9:958.6|SCTID:111247001|UMLS:C0042951|MESH:D054061 owl:Class MONDO:0032844 biolink:NamedThing infantile liver failure syndrome 3 tmpak2llvmy_mondo_relaxed.owl INFANTILE LIVER FAILURE SYNDROME 3|ILFS3 OMIM:618641 owl:Class MONDO:0001241 biolink:NamedThing transient neonatal neutropenia tmpak2llvmy_mondo_relaxed.owl ICD9:776.7|UMLS:C0158997|SCTID:55444004|DOID:11245|ICD10:P61.5 owl:Class MONDO:0019424 biolink:NamedThing X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. tmpak2llvmy_mondo_relaxed.owl Orphanet:85327|UMLS:CN227631|ICD10:Q87.8 owl:Class MONDO:0019521 biolink:NamedThing centripetalis recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. tmpak2llvmy_mondo_relaxed.owl RDEB-Ce|RDEB, centripetalis|centripetal dystrophic epidermolysis bullosa|centripetal recessive dystrophic epidermolysis bullosa Orphanet:89841|ICD10:Q81.2|SCTID:725419003|UMLS:C4511056 owl:Class MONDO:0024268 biolink:NamedThing superficial mycosis A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. tmpak2llvmy_mondo_relaxed.owl piedra|steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease UMLS:C2980104|DOID:0050133|SCTID:276206000|ICD10:B36.9|ICD9:117.9 owl:Class MONDO:0002062 biolink:NamedThing breast myofibroblastoma A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass. tmpak2llvmy_mondo_relaxed.owl breast myofibroblastoma UMLS:C1511320|DOID:1629|NCIT:C40397 owl:Class OBO:CHR_9606-chr2p13 biolink:NamedThing chr2p13 (Human) tmpak2llvmy_mondo_relaxed.owl 74800000 68400000 hg38 owl:Class MONDO:0010101 biolink:NamedThing Teebi-Shaltout syndrome Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. tmpak2llvmy_mondo_relaxed.owl Teebi-Shaltout syndrome|Teebi Shaltout syndrome|TBSH|craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage OMIM:272950|GARD:0005125|Orphanet:3291|UMLS:C1848912|MESH:C536950 https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome owl:Class MONDO:0005764 biolink:NamedThing follicular dendritic cell sarcoma A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. tmpak2llvmy_mondo_relaxed.owl follicular Dendritic cell sarcoma/tumor|sarcoma of follicular dendritic cell|follicular dendritic cell sarcoma|follicular Dendritic cell sarcoma|follicular dendritic cell tumour MESH:D054740|ICDO:9758/3|DOID:6262|ICDO:9758/1|UMLS:C1260325|ONCOTREE:FDCS|Orphanet:86902|NCIT:C9281|EFO:0007276|ICD10:C96.4 owl:Class GO:0031668 biolink:NamedThing cellular response to extracellular stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021524 biolink:NamedThing benign neoplasm of buccal mucosa A benign neoplasm that involves the buccal mucosa. tmpak2llvmy_mondo_relaxed.owl benign buccal mucosa tumor|benign tumor of the buccal mucosa|buccal mucosa benign neoplasm|benign tumor of buccal mucosa|benign neoplasm of the buccal mucosa|benign buccal mucosa neoplasm UMLS:C0345566|ICD9:210.4|NCIT:C4406|SCTID:92039003 owl:Class MONDO:0010051 biolink:NamedThing spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|spastic quadriplegia retinitis pigmentosa intellectual disability|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|spastic quadriplegia retinitis pigmentosa mental retardation|spastic quadriplegia, retinitis pigmentosa, and mental retardation|spastic quadriplegia, retinitis pigmentosa, and intellectual disability|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss MESH:C564808|OMIM:270950|UMLS:C1849112|Orphanet:3011|GARD:0004932 owl:Class UBERON:0001575 biolink:NamedThing extrinsic muscle of tongue A muscle organ that attaches the tongue to some other structure. tmpak2llvmy_mondo_relaxed.owl extrinsic tongue muscle|extrinsic lingual muscle owl:Class MONDO:0017733 biolink:NamedThing alpha-mannosidosis, adult form tmpak2llvmy_mondo_relaxed.owl Alpha-mannosidosis adult-onset form|lysosomal alpha-D-mannosidase deficiency, adult form Orphanet:309288|UMLS:CN036949|GTR:AN0103811|GTR:AN0103810|ICD10:E77.1 owl:Class HGNC:10535 biolink:NamedThing SAR1B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051784 biolink:NamedThing negative regulation of nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpak2llvmy_mondo_relaxed.owl downregulation of nuclear division|down-regulation of nuclear division|inhibition of nuclear division|down regulation of nuclear division owl:Class MONDO:0003932 biolink:NamedThing childhood optic nerve glioma A glioma affecting the optic tract and occurring in childhood. tmpak2llvmy_mondo_relaxed.owl pediatric optic tract glioma|visual pathway and hypothalamic glioma, childhood|childhood optic tract glioma|visual pathway glioma|glioma of the childhood visual pathway|glioma of the pediatric visual pathway|optic nerve glioma of childhood|glioma of pediatric visual pathway|pediatric optic nerve glioma|glioma of childhood visual pathway|childhood visual pathway glioma|pediatric visual pathway glioma GARD:0009309|NCIT:C7535|DOID:6576 owl:Class UBERON:0004916 biolink:NamedThing anal sphincter A sphincter muscle that is part of a anal region. tmpak2llvmy_mondo_relaxed.owl anal region sphincter|sphincter analia owl:Class CL:1000546 biolink:NamedThing kidney medulla collecting duct epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001060 cell owl:Class MONDO:0010514 biolink:NamedThing combined immunodeficiency due to moesin deficiency tmpak2llvmy_mondo_relaxed.owl X-linked Moesin-associated immunodeficiency|immunodeficiency 50|immunodeficiency type 50|Cid due to Moesin deficiency|IMD50|immunodeficiency 50, X-linked recessive|MSN-related combined immunodeficiency OMIM:300988|UMLS:C4310812|Orphanet:504530 owl:Class MONDO:0017521 biolink:NamedThing hyperphalangy, unilateral tmpak2llvmy_mondo_relaxed.owl hyperphalangy in digits 2-5|supernumerary phalanx, unilateral|supernumerary phalanges, unilateral ICD10:Q74.8|Orphanet:295140 owl:Class MONDO:0006513 biolink:NamedThing estrogen-receptor negative breast cancer A subtype of breast cancer that is estrogen-receptor negative tmpak2llvmy_mondo_relaxed.owl ER- breast cancer DOID:0060076|EFO:1000650 owl:Class UBERON:0004895 biolink:NamedThing alveolar smooth muscle Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043465 biolink:NamedThing achlorhydria Absence of hydrochloric acid in the gastric juice. tmpak2llvmy_mondo_relaxed.owl hypochlorhydria|gastric anacidity|achylia gastrica|absent gastric acidity|achlorhydria SCTID:47481007|NCIT:C2850|MESH:D000126 owl:Class ENVO:01000887 biolink:NamedThing area of sedge- and forb-dominated herbaceous vegetation An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016785 biolink:NamedThing complete hydatidiform mole Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. tmpak2llvmy_mondo_relaxed.owl classical hydatidiform Mole|complete hydatid Mole|complete Mole|complete molar pregnancy UMLS:C0678213|SCTID:237249000|Orphanet:254688|ICD10:O01.0|NCIT:C4871|ONCOTREE:CHM owl:Class CL:0001060 biolink:NamedThing hematopoietic oligopotent progenitor cell, lineage-negative A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-01-06T03:43:27Z cell owl:Class NCBITaxon:6193 biolink:NamedThing Opisthorchiida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1001590 biolink:NamedThing epididymis glandular cell Glandular cell of epididymal epithelium. tmpak2llvmy_mondo_relaxed.owl epididymal glandular cell|epididymis glandular cells CALOHA:TS-1276 owl:Class CHEBI:33560 biolink:NamedThing p-block element atom Any main group element atom belonging to the p-block of the periodic table. tmpak2llvmy_mondo_relaxed.owl p-block elements|p-block element owl:Class UBERON:0004988 biolink:NamedThing mucosa of cystic duct A mucosa that is part of a cystic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cystic duct mucosa of organ|mucous membrane of cystic duct|cystic ductal mucosa|mucosa of organ of cystic duct|organ mucosa of cystic duct|cystic duct mucous membrane|cystic duct organ mucosa|cystic duct mucosa owl:Class MONDO:0032818 biolink:NamedThing neurodevelopmental disorder with cerebellar hypoplasia and spasticity tmpak2llvmy_mondo_relaxed.owl NEDCHS|NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY OMIM:618572 owl:Class HGNC:6463 biolink:NamedThing KRT86 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006875 biolink:NamedThing cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. tmpak2llvmy_mondo_relaxed.owl cellular heavy metal ion homeostasis owl:Class GO:0030003 biolink:NamedThing cellular cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2409 biolink:NamedThing CRYGB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011027 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 1 tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, type 1|diabetes mellitus, noninsulin-dependent, 1|noninsulin-dependent diabetes mellitus 1|NIDDM1 UMLS:C1832544|MESH:C563359|OMIM:601283 owl:Class MONDO:0018429 biolink:NamedThing 14q24.1q24.3 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 14q24.1q24.3|Del(14)(q24.1q24.3) Orphanet:401935|UMLS:CN226142|ICD10:Q93.5 owl:Class MONDO:0008136 biolink:NamedThing isolated optic nerve hypoplasia tmpak2llvmy_mondo_relaxed.owl optic nerve aplasia, bilateral|optic nerve hypoplasia, familial bilateral|familial bilateral optic nerve hypoplasia|optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia OMIM:165550|ICD10:H47.0|UMLS:C4510723|UMLS:C1833797|GARD:0008419|SCTID:724999003|Orphanet:137902|DOID:0111531 owl:Class MONDO:0015219 biolink:NamedThing non-syndromic central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic central nervous system malformation|isolated central nervous system malformation Orphanet:108989 Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 owl:Class MONDO:0022587 biolink:NamedThing bone dysplasia corpus callosum agenesis tmpak2llvmy_mondo_relaxed.owl GARD:0000921 https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis owl:Class CHEBI:25865 biolink:NamedThing penicillanic acids tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018906 biolink:NamedThing follicular lymphoma Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. tmpak2llvmy_mondo_relaxed.owl follicular centre cell lymphoma|lymphoma, follicular|follicle center lymphoma|follicular non-Hodgkin's lymphoma|lymphoma, follicular centre cell|lymphoma, follicular, malignant|follicular non-Hodgkin lymphoma ICD10:C82.5|ICD10:C82.0|DOID:0050873|MESH:D008224|Orphanet:545|UMLS:C0024301|ICD10:C82.1|ICD10:C82.4|ICDO:9690/3|ICD10:C82.9|GARD:0002356|ICD10:C82.3|SCTID:308121000|ICD10:C82.7|ONCOTREE:FL|HGNC:990|ICD10:C82.2|NCIT:C3209|ICD10:C82.6 https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma owl:Class MONDO:0000650 biolink:NamedThing peritoneal benign neoplasm A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis. tmpak2llvmy_mondo_relaxed.owl benign peritoneal neoplasm|peritoneum benign neoplasm UMLS:C0496874|DOID:0060117|NCIT:C8612 owl:Class GO:0090283 biolink:NamedThing regulation of protein glycosylation in Golgi Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid glycosylation in Golgi owl:Class MONDO:0014688 biolink:NamedThing short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 14 with polydactyly|SRTD14 UMLS:C4225286|ICD10:Q04.3|DOID:0110096|OMIM:616546 owl:Class MONDO:0005350 biolink:NamedThing abdominal aortic aneurysm Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm, familial abdominal 1 UMLS:C0162871|EFO:0004214|SCTID:233985008|DOID:7693|MESH:D017544 owl:Class GO:0015927 biolink:NamedThing trehalase activity Catalysis of the hydrolysis of trehalose or a trehalose derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000390 biolink:NamedThing lens nucleus The core of the crystalline lens, surrounded by the cortex. tmpak2llvmy_mondo_relaxed.owl nucleus of lens owl:Class CHEBI:35338 biolink:NamedThing amphetamines Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine. tmpak2llvmy_mondo_relaxed.owl amphetamine drug owl:Class UBERON:0003605 biolink:NamedThing eye skin gland A skin gland that is part of a camera-type eye [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin glands set of vertebrate eye|vertebrate eye skin glands set|skin glands set of camera-type eye|skin gland of camera-type eye|camera-type eye skin glands|camera-type eye skin gland|camera-type eye skin glands set|vertebrate eye skin glands|skin glands of camera-type eye|vertebrate eye skin gland|skin gland of vertebrate eye|skin glands of vertebrate eye owl:Class MONDO:0019672 biolink:NamedThing fibular hemimelia Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. tmpak2llvmy_mondo_relaxed.owl congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia Orphanet:93323|ICD10:Q72.6 owl:Class GO:0043470 biolink:NamedThing regulation of carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032859 biolink:NamedThing spermatogenic failure 40 tmpak2llvmy_mondo_relaxed.owl SPGF40|SPERMATOGENIC FAILURE 40 OMIM:618664 owl:Class HGNC:9957 biolink:NamedThing RELN tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0008169 biolink:NamedThing Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. tmpak2llvmy_mondo_relaxed.owl Factor VII deficiency UMLS:C0015503|MSH:D005168|UMLS:C4024722|SNOMEDCT_US:37193007 human_phenotype owl:Class MONDO:0017764 biolink:NamedThing disorder of zinc metabolism tmpak2llvmy_mondo_relaxed.owl disorder of zinc metabolism and transport ICD9:275.8|Orphanet:309845|ICD10:E83.2|MedDRA:10048260|SCTID:46727001 owl:Class MONDO:0017761 biolink:NamedThing disorder of mineral absorption and transport tmpak2llvmy_mondo_relaxed.owl ICD10:E83.3|ICD10:E83.8|Orphanet:309836|ICD10:E83.4|UMLS:CN227205|ICD10:E83.5|ICD10:E83.1|ICD10:E83.2|ICD10:E83.0|ICD10:E83.9 owl:Class ECTO:9002028 biolink:NamedThing exposure to greenhouse gas An exposure to greenhouse gas. tmpak2llvmy_mondo_relaxed.owl exposure to greenhouse gas owl:Class HGNC:9175 biolink:NamedThing POLD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0007378 biolink:NamedThing Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl Gastrointestinal tract neoplasia|GI tract tumour|Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|Neoplasm of the GI tract|Gastrointestinal tract tumour|GI tract tumor MSH:D005770|UMLS:C0017185|NCIT:C3262|SNOMEDCT_US:126768004 peter 2008-04-01T11:55:00Z human_phenotype owl:Class HGNC:119 biolink:NamedThing ACOX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017283 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion tmpak2llvmy_mondo_relaxed.owl 10p12p11 microdeletion syndrome|Del(10)(p11.21p12.31)|monosomy 10p11.21p12.31|deletion 10p11.21p12.31 Orphanet:284169|UMLS:CN202845|ICD10:Q83.5 owl:Class MONDO:0013959 biolink:NamedThing Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. tmpak2llvmy_mondo_relaxed.owl PRX Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|Prx Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, demyelinating, type 4F|CMT4F DOID:0110193|SCTID:715801001|GARD:0012441|ICD10:G60.0|UMLS:C3540453|Orphanet:99952|OMIM:614895 https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f owl:Class HP:0001744 biolink:NamedThing Splenomegaly Abnormal increased size of the spleen. tmpak2llvmy_mondo_relaxed.owl Increased spleen size MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002 HP:0001745|HP:0006269 human_phenotype owl:Class HP:0003271 biolink:NamedThing Visceromegaly Abnormal increased size of the viscera of the abdomen. tmpak2llvmy_mondo_relaxed.owl UMLS:C0042782|SNOMEDCT_US:28543008 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. human_phenotype owl:Class MONDO:0020451 biolink:NamedThing congenital stenosis of the inferior vena cava tmpak2llvmy_mondo_relaxed.owl congenital stenosis of the IVC|congenital stenosis of the inferior caval vein Orphanet:99122|ICD9:747.49|SCTID:62335009|ICD10:Q26.0 owl:Class MONDO:0002924 biolink:NamedThing smooth muscle cancer A malignant neoplasm arising from smooth muscle. tmpak2llvmy_mondo_relaxed.owl malignant smooth muscle neoplasm|malignant smooth muscle tumor|malignant tumor of smooth muscle|malignant neoplasm of smooth muscle|malignant tumor of the smooth muscle|cancer of the smooth muscle|cancer of smooth muscle|malignant neoplasm of the smooth muscle|smooth muscle cancer DOID:4230|NCIT:C6511|UMLS:C1334620 owl:Class UBERON:0037094 biolink:NamedThing wall of common carotid artery tmpak2llvmy_mondo_relaxed.owl common carotid arterial wall owl:Class MONDO:0006107 biolink:NamedThing benign thyroid gland neoplasm A benign neoplasm arising from the thyroid gland. tmpak2llvmy_mondo_relaxed.owl benign thyroid gland neoplasm|benign thyroid tumor|benign thyroid gland tumor|benign neoplasm of the thyroid gland|benign tumor of the thyroid gland|benign neoplasm of thyroid glands|thyroid neoplasm, benign|benign tumor of the thyroid|benign thyroid neoplasm|thyroid gland benign neoplasm|benign tumor of thyroid gland|benign neoplasm of the thyroid|benign tumor of thyroid|benign neoplasm of thyroid|benign neoplasm of thyroid gland NCIT:C3628|EFO:1000122|SCTID:92439006|ICD9:226|UMLS:C0154038 owl:Class MONDO:0018222 biolink:NamedThing X-linked intellectual disability due to GRIA3 anomalies tmpak2llvmy_mondo_relaxed.owl ICD10:F72|Orphanet:364028 owl:Class UBERON:0000489 biolink:NamedThing cavitated compound organ Compound organ that contains one or more macroscopic anatomical spaces. tmpak2llvmy_mondo_relaxed.owl cavitated organ|cavitated compound organs owl:Class MONDO:0009403 biolink:NamedThing hypertelorism and tetralogy of fallot tmpak2llvmy_mondo_relaxed.owl hypertelorism and tetralogy of fallot OMIM:239711|MESH:C538386|GARD:0002848|UMLS:C1855903 https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot owl:Class MONDO:0012445 biolink:NamedThing autosomal recessive nonsyndromic deafness 59 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive type 59|DFNB59|autosomal recessive nonsyndromic deafness type 59|autosomal recessive nonsyndromic deafness 59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|PJVK autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 59|autosomal recessive deafness 59 ICD10:H90.3|MESH:C565698|UMLS:C1857744|DOID:0110511|OMIM:610220 Editor note: TODO check genes owl:Class MONDO:0000639 biolink:NamedThing cartilage cancer A cancer involving a cartilage tissue. tmpak2llvmy_mondo_relaxed.owl cartilage tissue cancer|cartilaginous cancer|malignant neoplasm of cartilage tissue|cancer of cartilage tissue|malignant cartilage tissue neoplasm GARD:0006004|DOID:0060102 https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer owl:Class MONDO:0007401 biolink:NamedThing craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock Jones Superneau syndrome|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome|Braddock-Jones-Superneau syndrome|HDCPH1|hydrocephalus, autosomal dominant ICD10:Q75.0|GARD:0000998|MESH:C563973|OMIM:123155|SCTID:720813007|GARD:0001592|Orphanet:1538|ICD10:Q03.1|UMLS:CN199608 https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus owl:Class MONDO:0015704 biolink:NamedThing familial scaphocephaly syndrome tmpak2llvmy_mondo_relaxed.owl MedDRA:10072229|ICD10:Q75.0|Orphanet:169163 owl:Class HGNC:6547 biolink:NamedThing LDLR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025484 biolink:NamedThing simian acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. tmpak2llvmy_mondo_relaxed.owl Simian acquired immune deficiency syndrome|Simian AIDS|Simian immunodeficiency virus monkey disease|Simian immunodeficiency virus caused monkey disease|Simian acquired immuno deficiency syndrome|AIDSs, Simian|SAIDS|AIDS, Simian|Simian AIDSs|Simian acquired immuno-deficiency syndrome MESH:D016097|UMLS:C0080151 owl:Class MONDO:0006294 biolink:NamedThing pleural cancer A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the pleura|pleura cancer|malignant tumor of the pleura|malignant pleura neoplasm|neoplasm of pleura|pleural cancer|malignant pleural tumor|cancer of pleura|malignant pleural neoplasm|malignant neoplasm of pleura|pleural tumor|malignant tumor of pleura|cancer of the pleura ICD10:C38.4|ICD9:163.8|ICD9:163.9|ICD9:163|NCIT:C3547|DOID:5158|SCTID:363433009|UMLS:C0153494|EFO:1000362 owl:Class MONDO:0010924 biolink:NamedThing D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl D-2-hydroxyglutaric aciduria type 1|D-2-HGA|D2HGA|D2HA|D-2-hydroxyglutaric acidemia|D-2-hydroxyglutaric aciduria 1 Orphanet:79315|UMLS:C1833429|DOID:0050575|OMIMPS:600721|ICD10:E72.8|UMLS:CN233040|SCTID:237960000|GARD:0005661 owl:Class GO:0006768 biolink:NamedThing biotin metabolic process The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. tmpak2llvmy_mondo_relaxed.owl vitamin H metabolic process|vitamin B7 metabolic process|vitamin H metabolism|biotin metabolism|vitamin B7 metabolism owl:Class MONDO:0001808 biolink:NamedThing chronic subinvolution of uterus tmpak2llvmy_mondo_relaxed.owl SCTID:198315005|UMLS:C0156370|ICD9:621.1|DOID:13811 owl:Class UBERON:0009970 biolink:NamedThing epithelium of pancreatic duct An epithelium that is part of a pancreatic duct. tmpak2llvmy_mondo_relaxed.owl pancreatic ductal epithelium|pancreatic duct epithelium owl:Class MONDO:0005841 biolink:NamedThing maxillary neoplasm Cancer or tumors of the maxilla or upper jaw. tmpak2llvmy_mondo_relaxed.owl bone of upper jaw tumor|bone of upper jaw neoplasm|neoplasm of bone of upper jaw|upper jaw bone cancer|tumor of bone of upper jaw|maxillary neoplasm|bone of upper jaw neoplasm (disease)|maxillary cancer SCTID:126550004|UMLS:C0024954|MESH:D008441|EFO:0007360|DOID:4618 owl:Class MONDO:0001383 biolink:NamedThing degenerative myopia Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. tmpak2llvmy_mondo_relaxed.owl progressive high (degenerative) myopia|pathological myopia|degenerative progressive high myopia|progressive high myopia EFO:0004207|UMLS:C0154778|ICD9:360.21|DOID:11829|MESH:D047728|SCTID:32022003|ICD10:H44.2 owl:Class MONDO:0020808 biolink:NamedThing testicular sertoli cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. tmpak2llvmy_mondo_relaxed.owl Testicular Sertoli Cell Tumor|Testicular Sertoli Cell Tumor, Not Otherwise Specified|Sertoli Cell Neoplasm of the Testis|Sertoli Cell Tumor of the Testis|Sertoli Cell Neoplasm of Testis|Sertoli Cell Tumor of Testis|Testicular Sertoli Cell Neoplasm|Testicular Sertoli Cell Tumor, NOS NCIT:C4672 owl:Class NCIT:C49165 biolink:NamedThing Surgical Procedure by Method tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C15329 biolink:NamedThing Surgical Procedure tmpak2llvmy_mondo_relaxed.owl Surgical Procedure IMDRF:F19 owl:Class MONDO:0011619 biolink:NamedThing crumpled helices and small mouth tmpak2llvmy_mondo_relaxed.owl sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay|crumpled helices and small mouth MESH:C536217|UMLS:C1853826|GARD:0010078|OMIM:605945 https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth owl:Class MONDO:0025263 biolink:NamedThing strongyle infections, equine Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. tmpak2llvmy_mondo_relaxed.owl equine strongyle infections|Strongylosis, equine|equine strongyle infection|infections, equine strongyle|infection, equine strongyle|Strongyloses, equine|strongyle infection, equine|equine Strongylosis|equine Strongyloses UMLS:C0038459|MESH:D013319 owl:Class MONDO:0018760 biolink:NamedThing WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:466943|UMLS:CN242159 owl:Class MONDO:0024339 biolink:NamedThing lymph node neoplasm A neoplasm involving a lymph node. tmpak2llvmy_mondo_relaxed.owl tumor of lymph node|lymph node neoplasm (disease)|lymph node neoplasm|neoplasm of lymph node|lymph node tumor GARD:0006932|NCIT:C35497 owl:Class UBERON:0011865 biolink:NamedThing corneal stroma collagen fibril The connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001421 biolink:NamedThing frontal lobe neoplasm A neoplasm involving a frontal lobe. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of frontal lobe|tumor of the frontal lobe|neoplasm of the frontal lobe|neoplasm of frontal lobe|frontal lobe tumor|tumor of frontal lobe|frontal lobe neoplasm (disease) ICD9:191.1|NCIT:C5572|ICD10:C71.1|DOID:12016|UMLS:C1263886|SCTID:126954003 owl:Class MONDO:0016724 biolink:NamedThing papillary tumor of the pineal region Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. tmpak2llvmy_mondo_relaxed.owl PTPR UMLS:C2985219|Orphanet:251915|ICDO:9395/3|NCIT:C92624|ONCOTREE:PTPR|ICD10:D44.5|EFO:1000451 owl:Class GO:0045836 biolink:NamedThing positive regulation of meiotic nuclear division Any process that activates or increases the frequency, rate or extent of meiosis. tmpak2llvmy_mondo_relaxed.owl stimulation of meiosis|upregulation of meiosis|activation of meiosis|positive regulation of meiosis|up-regulation of meiosis|up regulation of meiosis owl:Class MONDO:0001920 biolink:NamedThing chronic purulent otitis media Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. tmpak2llvmy_mondo_relaxed.owl suppurative otitis media, chronic|CSOM|chronic suppurative otitis media|chronic suppurative otitis Media UMLS:C0271454|ICD10:H66.3|SCTID:38394007|DOID:14247|NCIT:C128386|ICD9:382.3 owl:Class MONDO:0013532 biolink:NamedThing protein Z deficiency tmpak2llvmy_mondo_relaxed.owl protein Z deficiency UMLS:C3151465|OMIM:614024 owl:Class MONDO:0009249 biolink:NamedThing hereditary fructose intolerance Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. tmpak2llvmy_mondo_relaxed.owl fructose-1,6-bisphosphate aldolase B deficiency|Aldob deficiency|hereditary fructose intolerance syndrome|aldolase B deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|fructose intolerance, hereditary|hereditary fructosemia|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructose intolerance|fructose intolerance|Fructosaemia GARD:0006622|DOID:9869|NCIT:C84720|MedDRA:10019878|ICD9:271.2|UMLS:C0016751|Orphanet:469|ICD10:E74.12|SCTID:20052008|OMIM:229600|ICD10:E74.1 owl:Class MONDO:0003139 biolink:NamedThing mesangial proliferative glomerulonephritis Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. tmpak2llvmy_mondo_relaxed.owl mesangial proliferative GN|glomerulonephritis - mesangial proliferative|Mesangioproliferative glomerulonephritis GARD:0009580|SCTID:35546006|NCIT:C35445|DOID:4783|UMLS:C0221238 https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis owl:Class MONDO:0019272 biolink:NamedThing hereditary palmoplantar keratoderma An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary PPK|hereditary palmoplantar hyperkeratosis|hereditary keratosis palmoplantaris|hereditary palmoplantar keratosis ICD9:757.39|ICD10:Q82.8|Orphanet:79357|SCTID:239066003 owl:Class MONDO:0012915 biolink:NamedThing chromosome 1q21.1 duplication syndrome Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. tmpak2llvmy_mondo_relaxed.owl 1q21.1 microduplication syndrome|chromosome 1q21.1 duplication syndrome|dup(1)(q21.1)|trisomy 1q21.1 UMLS:C2675891|GARD:0010591|Orphanet:250994|ICD10:Q92.3|MESH:C567290|DOID:0060435|OMIM:612475 https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome owl:Class MONDO:0011532 biolink:NamedThing hereditary spastic paraplegia 13 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia 13|spastic paraplegia 13|hereditary spastic paraplegia type 13|SPG13|HSPD1 hereditary spastic paraplegia|spastic paraplegia 13, autosomal dominant|hereditary spastic paraplegia caused by mutation in HSPD1|autosomal dominant spastic paraplegia type 13 DOID:0110766|UMLS:C1854467|GARD:0009616|OMIM:605280|MESH:C537485|ICD10:G11.4|Orphanet:100994 owl:Class CHEBI:26151 biolink:NamedThing piperidines tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006201 biolink:NamedThing ethmoid sinus adenoid cystic carcinoma An adenoid cystic carcinoma that affects the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus NCIT:C6238|DOID:2764|EFO:1000246|UMLS:C1333473 owl:Class MONDO:0005829 biolink:NamedThing louping ill An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. tmpak2llvmy_mondo_relaxed.owl Louping ill ICD10:A84.8|UMLS:C0024025|EFO:0007348|ICD9:063.1|DOID:10250|MESH:D008146 owl:Class UBERON:0015474 biolink:NamedThing axilla skin A zone of skin that is part of a axilla. tmpak2llvmy_mondo_relaxed.owl axillary skin|skin of axilla owl:Class GO:0046474 biolink:NamedThing glycerophospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. tmpak2llvmy_mondo_relaxed.owl phosphoglyceride biosynthetic process|glycerophospholipid formation|glycerophospholipid synthesis|glycerophospholipid anabolism|glycerophospholipid biosynthesis|phosphoglyceride biosynthesis owl:Class GO:0045017 biolink:NamedThing glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. tmpak2llvmy_mondo_relaxed.owl glycerolipid synthesis|glycerolipid anabolism|glycerolipid formation|glycerolipid biosynthesis owl:Class MONDO:0004038 biolink:NamedThing dental enamel hypoplasia Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. tmpak2llvmy_mondo_relaxed.owl enamel hypoplasia UMLS:C0011351|NCIT:C34529|SCTID:26597004|DOID:693|MESH:D003744|EFO:1001304 owl:Class MONDO:0004443 biolink:NamedThing chest wall parachordoma A parachordoma arising from the chest wall. tmpak2llvmy_mondo_relaxed.owl parachordoma of the chest wall|chest wall parachordoma|parachordoma of chest wall UMLS:C1332934|DOID:8043|NCIT:C6720 owl:Class MONDO:0044070 biolink:NamedThing candidemia A form of invasive candidiasis where species of candida are present in the blood. tmpak2llvmy_mondo_relaxed.owl candidemia|Candidemias MESH:D058387|UMLS:C0877445|SCTID:432261003|EFO:1001311 owl:Class MONDO:0044067 biolink:NamedThing candidiasis, invasive A fungal infection by any of the Candida species in a sterile body compartment. tmpak2llvmy_mondo_relaxed.owl invasive candidiases|invasive candidiasis|candidiases, invasive EFO:1001282|MESH:D058365|NCIT:C116813 owl:Class MONDO:0012885 biolink:NamedThing SRD5A3-CDG SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 1q|congenital disorder of glycosylation type Iq|CDG-Iq|CDG Iq|CDG1Q|congenital disorder of glycosylation, type Iq|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG syndrome type Iq|CDGIq|SRD5A3-CDG (CDG-Iq) ICD10:E77.8|DOID:0080568|GARD:0012397|UMLS:C3150191|OMIM:612379|UMLS:C4317224|Orphanet:324737|SCTID:733601006 owl:Class GO:0048731 biolink:NamedThing system development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015640 biolink:NamedThing benign infantile seizures associated with mild gastroenteritis Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. tmpak2llvmy_mondo_relaxed.owl SCTID:765756007|Orphanet:166305 owl:Class MONDO:0015642 biolink:NamedThing benign partial infantile seizures tmpak2llvmy_mondo_relaxed.owl Orphanet:166311 owl:Class MONDO:0003676 biolink:NamedThing inferolateral myocardial infarct An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. tmpak2llvmy_mondo_relaxed.owl DOID:5852 owl:Class MONDO:0008149 biolink:NamedThing osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures An osteogenesis imperfecta found in a single South African family. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures UMLS:C1833748|OMIM:166230|ICD10:Q78.0|DOID:0110335|MESH:C563487 owl:Class MONDO:0008146 biolink:NamedThing osteogenesis imperfecta type 1 Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. tmpak2llvmy_mondo_relaxed.owl classic non-deforming OI with blue sclerae|osteogenesis imperfecta, type 1|Adair-Dighton syndrome|non-deforming osteogenesis imperfecta|mild osteogenesis imperfecta|Van der Hoeve syndrome|osteogenesis imperfecta tarda|osteogenesis imperfecta with blue sclerae|osteogenesis imperfecta, type I|OI type 1|OI1|osteogenesis imperfecta type 1|OI, type 1|osteogenesis imperfecta type I GARD:0008694|UMLS:CN201103|Orphanet:216796|DOID:0110334|SCTID:385482004|OMIM:166200|NCIT:C99003|UMLS:CN536249|ICD10:Q78.0 Editor note: we follow ordo and place van der hoeve as exact synonym owl:Class UBERON:0012481 biolink:NamedThing cloacal epithelium An epithelium that is part of a cloaca. tmpak2llvmy_mondo_relaxed.owl cloacal endoderm owl:Class NCBITaxon:84529 biolink:NamedThing Metagonimus yokogawai tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:1193293 ncbi_taxonomy owl:Class CHEBI:83822 biolink:NamedThing non-proteinogenic L-alpha-amino acid Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpak2llvmy_mondo_relaxed.owl non-proteinogenic L-alpha-amino acids owl:Class CHEBI:83925 biolink:NamedThing non-proteinogenic alpha-amino acid Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpak2llvmy_mondo_relaxed.owl non-proteinogenic alpha-amino acids|non-proteinogenic alpha-amino-acids|non-proteinogenic alpha-amino-acid owl:Class MONDO:0004014 biolink:NamedThing ethmoid sinus ectopic meningioma An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl primary ectopic meningioma of the ethmoidal sinus|primary ectopic meningioma of the ethmoid sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus|primary ectopic meningioma of ethmoid sinus|ethmoid sinus primary ectopic meningioma UMLS:C1333475|NCIT:C5309|DOID:6854 owl:Class NCBITaxon:404429 biolink:NamedThing Echinostomatoidea tmpak2llvmy_mondo_relaxed.owl Cyclocoeloidea|Fascioloidea GC_ID:1 NCBITaxon:27842 ncbi_taxonomy owl:Class HGNC:4223 biolink:NamedThing MSTN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008157 biolink:NamedThing Buschke-Ollendorff syndrome Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin. tmpak2llvmy_mondo_relaxed.owl Dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata, isolated|osteopathia condensans disseminata|osteopoikilosis, isolated|dermatofibrosis, disseminated, with osteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|Buschke Ollendorff syndrome|dermatofibrosis, disseminated with osteopoikilosis|Buschke-Ollendorff syndrome|disseminated dermatofibrosis with osteopoikilosis|Bos|osteopoikilosis with melorheostosis GARD:0001044|ICD10:Q78.8|OMIM:166700|MESH:C537415|Orphanet:1306|DOID:0111536 owl:Class MONDO:0008154 biolink:NamedThing osteomas of mandible tmpak2llvmy_mondo_relaxed.owl osteomas of mandible MESH:C563485|OMIM:166400|UMLS:C1833733 owl:Class MONDO:0005166 biolink:NamedThing osteoma A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. tmpak2llvmy_mondo_relaxed.owl osteoma|osteoma (disease)|osteoma, benign osteoma (disease) UMLS:C0029440|SCTID:302858007|MESH:D010016|HP:0100246|ICDO:9180/0|NCIT:C3296|EFO:0002423 owl:Class MONDO:0006208 biolink:NamedThing fallopian tube serous adenocarcinoma A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl fallopian tube serous adenocarcinoma NCIT:C40099|EFO:1000253|UMLS:C1517124|DOID:5598 owl:Class MONDO:0005895 biolink:NamedThing paragonimiasis A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. tmpak2llvmy_mondo_relaxed.owl lung fluke infection|pulmonary paragonimiasis|Paragonimus westermani disease or disorder|Paragonimus westermani caused disease or disorder|Paragonimus westermani infectious disease|Paragonimus westermani infection|lung fluke disease|infection by Paragonimus GARD:0009815|DOID:10699|UMLS:C0030424|ICD9:121.2|NCIT:C84995|MESH:D010237|EFO:0007418|ICD10:B66.4|SCTID:30369007 https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis owl:Class HP:0012732 biolink:NamedThing Anorectal anomaly An abnormality of the anus or rectum. tmpak2llvmy_mondo_relaxed.owl MSH:D000071056|SNOMEDCT_US:33225004|UMLS:C3495676 peter 2014-03-23T02:48:00Z human_phenotype owl:Class MONDO:0014345 biolink:NamedThing retinitis pigmentosa 69 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 69|KIZ retinitis pigmentosa|retinitis pigmentosa caused by mutation in KIZ|retinitis pigmentosa 69|RP69 UMLS:C4014312|OMIM:615780|ICD10:H35.5|DOID:0110410 owl:Class NCBITaxon:169449 biolink:NamedThing Coelopinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:169440 biolink:NamedThing Coelopidae tmpak2llvmy_mondo_relaxed.owl kelp flies|seaweed flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732461 biolink:NamedThing Alsuviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732406 biolink:NamedThing Kitrinoviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016243 biolink:NamedThing hemoglobin E disease Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. tmpak2llvmy_mondo_relaxed.owl hemoglobin E disease|Hb-E disease SCTID:25065001|GARD:0002641|Orphanet:2133|ICD9:282.7|MedDRA:10053215|DOID:5379|UMLS:C0238159|ICD10:D58.2|NCIT:C35287 https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease owl:Class MONDO:0005956 biolink:NamedThing septicemic plague A plague in which the bacteria have entered the bloodstream. tmpak2llvmy_mondo_relaxed.owl ICD9:020.2|UMLS:C0152936|EFO:0007481|DOID:3481|ICD10:A20.7|SCTID:9012003 owl:Class GO:0140239 biolink:NamedThing postsynaptic endocytosis A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018560 biolink:NamedThing anterior urethral valve tmpak2llvmy_mondo_relaxed.owl Orphanet:435372|SCTID:253907008|ICD10:Q64.7|UMLS:CN242188 Editor note: consider obsoleting as represents a finding owl:Class MONDO:0013688 biolink:NamedThing linear and whorled nevoid hypermelanosis Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism. tmpak2llvmy_mondo_relaxed.owl zosteriform lentiginous nevus|reticulate hyperpigmentation of Iijima|linear papular ectodermal-mesodermal hamartoma|hyperpigmentation, progressive cribriform and zosteriform|melanosis Neviformis|pigmented hairy Nevus of Becker|linear and whorled hypermelanosis|LWNH|Becker Nevus|Becker's Nevus|pigmented hairy Epidermal Nevus|progressive cribriform and zosteriform hyperpigmentation|zosteriform hyperpigmentation|zebra-like hyperpigmentation|nevoid hypermelanosis, linear and whorled SCTID:403803002|OMIM:614323|ICD10:L81.4|Orphanet:79150|NCIT:C3924|UMLS:C1304501|UMLS:C0263579|GARD:0011004 https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis owl:Class UBERON:0001113 biolink:NamedThing lobe of liver Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. tmpak2llvmy_mondo_relaxed.owl hepatic lobe|lobus hepatis|liver lobe owl:Class UBERON:0003387 biolink:NamedThing smooth muscle of trachea A portion of smooth muscle tissue that is part of a trachea [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tracheal smooth muscle|trachea smooth muscle owl:Class CHEBI:38077 biolink:NamedThing polypyrrole A compound composed of two or more pyrrole units. tmpak2llvmy_mondo_relaxed.owl PPys|poly(pyrrole)s|polypyrroles owl:Class MONDO:0010696 biolink:NamedThing omphalocele, X-linked tmpak2llvmy_mondo_relaxed.owl omphalocele, X-linked UMLS:C3275625|OMIM:310980 owl:Class MONDO:0007198 biolink:NamedThing Ascher syndrome Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. tmpak2llvmy_mondo_relaxed.owl Ascher's syndrome|Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis - double lip|blepharochalasis and double lip|blepharochalasis-double lip syndrome|blepharochalasis and Double lip|blepharochalasis and Double type lip|blepharochalasis and DOUBLE LIP|Ascher syndrome SCTID:28599006|ICD9:246.8|ICD10:Q87.0|MESH:C562742|Orphanet:1253|ICD9:374.89|GARD:0000201|UMLS:C0339085|OMIM:109900 https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome owl:Class HGNC:6169 biolink:NamedThing ITIH4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007927 biolink:NamedThing congenital macroglossia tmpak2llvmy_mondo_relaxed.owl macroglossia ICD10:Q38.2|MESH:C531735|OMIM:153630|SCTID:270516002|Orphanet:2430|ICD9:750.15 owl:Class MONDO:0700002 biolink:NamedThing ATP1A3-associated neurological disorder Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3. tmpak2llvmy_mondo_relaxed.owl neurological disorder caused by mutation in ATP1A3|ATP1A3 related neurological disorder|ATP1A3 neurological disorder http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0008928 biolink:NamedThing cataract-ataxia-deafness syndrome Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl cataract ataxia deafness syndrome|polyneuropathy, cataract, deafness syndrome|Begeer syndrome|cataract-ataxia-deafness-retardation syndrome|cataract ataxia deafness|polyneuropathy-cataract-deafness syndrome MESH:C538283|Orphanet:1368|ICD10:G11.2|OMIM:212710|UMLS:C0796123|GARD:0001141 owl:Class NCBITaxon:10374 biolink:NamedThing Gammaherpesvirinae tmpak2llvmy_mondo_relaxed.owl lymphoproliferative virus group|Gammaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:1606 biolink:NamedThing CCR5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012487 biolink:NamedThing alopecia-intellectual disability syndrome 2 tmpak2llvmy_mondo_relaxed.owl alopecia-mental retardation syndrome 2|alopecia intellectual disability syndrome 2|AMR syndrome 2|APMR2|alopecia-intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit GARD:0004291|MESH:C563668|DOID:0080629|UMLS:C1835852|OMIM:610422 owl:Class MONDO:0005016 biolink:NamedThing diabetic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. tmpak2llvmy_mondo_relaxed.owl type 1 diabetes nephropathy|diabetic nephropathy|type 2 diabetes nephropathy|DKD SCTID:127013003|ICD9:583.81|EFO:0004997|MESH:D003928|ICD9:250.40|ICD9:250.4|NCIT:C84417|EFO:0004996|EFO:0000401 owl:Class GO:2000381 biolink:NamedThing negative regulation of mesoderm development Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004750 biolink:NamedThing language disorder A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. tmpak2llvmy_mondo_relaxed.owl NCIT:C97155|EFO:0005425|MESH:D007806|ICD10:F80.9|DOID:93|HP:0002463 owl:Class MONDO:0011088 biolink:NamedThing congenital myasthenic syndrome 1A Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. tmpak2llvmy_mondo_relaxed.owl CHRNA1 congenital myasthenic syndrome|CMS1A|myasthenic syndrome, congenital, 1A, slow-channel|congenital myasthenic syndrome type IIa|myasthenic syndrome, congenital, type IIa, formerly|CMS IIa|congenital myasthenic syndrome type 1A|congenital myasthenic syndrome 1A, slow-channel|myasthenic syndrome, congenital, type IIa|Cms IIa, formerly|Cms IIa|congenital myasthenic syndrome caused by mutation in CHRNA1 OMIM:601462|DOID:0110663 owl:Class GO:0002445 biolink:NamedThing type II hypersensitivity An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001678 biolink:NamedThing cellular glucose homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. tmpak2llvmy_mondo_relaxed.owl cell glucose homeostasis owl:Class GO:0042593 biolink:NamedThing glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007169 biolink:NamedThing atherosclerosis susceptibility tmpak2llvmy_mondo_relaxed.owl ATHS|Atherogenic lipoprotein phenotype|atherosclerosis susceptibility OMIM:108725 owl:Class MONDO:0020134 biolink:NamedThing cystic malformation of the posterior fossa tmpak2llvmy_mondo_relaxed.owl Orphanet:98520|ICD9:742.4|SCTID:35111000119109 owl:Class MONDO:0021918 biolink:NamedThing arena syndrome tmpak2llvmy_mondo_relaxed.owl spastic paraplegia with iron deposits in basal ganglia UMLS:C2931491|MESH:C537428|GARD:0009223 https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome owl:Class MONDO:0009000 biolink:NamedThing familial reactive perforating collagenosis Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. tmpak2llvmy_mondo_relaxed.owl collagenosis, familial reactive perforating|RPC|inherited reactive perforating collagenosis ICD10:L87.1|UMLS:C1857624|GARD:0013331|OMIM:216700|Orphanet:79147|MESH:C565687 https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis owl:Class GO:0031340 biolink:NamedThing positive regulation of vesicle fusion Any process that activates or increases the frequency, rate or extent of vesicle fusion. tmpak2llvmy_mondo_relaxed.owl up regulation of vesicle fusion|up-regulation of vesicle fusion|activation of vesicle fusion|stimulation of vesicle fusion|upregulation of vesicle fusion owl:Class MONDO:0010207 biolink:NamedThing woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome tmpak2llvmy_mondo_relaxed.owl woolly hair hypotrichosis everted lower lip and outstanding ears|Salamon syndrome|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears GARD:0005594|MESH:C536746|SCTID:239023005|OMIM:278200|Orphanet:1409 owl:Class MONDO:0001499 biolink:NamedThing retroperitoneal lymphoma A lymphoma that involves the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl lymphoma of retroperitoneal space|primary retroperitoneal lymphoma|retroperitoneal space lymphoma|retroperitoneal lymphoma DOID:12339|NCIT:C7353|UMLS:C1335779|SCTID:422853008 owl:Class MONDO:0030939 biolink:NamedThing premature ovarian failure 18 tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 18|POF18 OMIM:619203 owl:Class GO:0001808 biolink:NamedThing negative regulation of type IV hypersensitivity Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response. tmpak2llvmy_mondo_relaxed.owl downregulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down-regulation of type IV hypersensitivity|down regulation of type IV hypersensitivity owl:Class MONDO:0032900 biolink:NamedThing neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS|NEDHAHM OMIM:618760 owl:Class MONDO:0011694 biolink:NamedThing spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 15|spinocerebellar ataxia 16, formerly|SCA15|SCA15/16|spinocerebellar ataxia 16|spinocerebellar ataxia 16 (formerly)|SCA16 (formerly)|spinocerebellar ataxia 15|spinocerebellar ataxia type 15/16 SCTID:716724006|ICD10:G11.2|GARD:0010477|MESH:C564685|DOID:0050965|UMLS:C4274322|UMLS:C1847725|OMIM:606658|Orphanet:98769 In orphanet, SCA16 is obsoleted in favor of 15/16 owl:Class MONDO:0011578 biolink:NamedThing familial papillary thyroid carcinoma with renal papillary neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). tmpak2llvmy_mondo_relaxed.owl Prn1|ptc-RCC|Ptcprn|thyroid carcinoma, papillary, with papillary renal neoplasia Orphanet:97290|MESH:C565310|ICD10:C73|OMIM:605642|ICD10:C64|UMLS:C1854104|SCTID:717734005 Editor note: check MONDO:0000201 thyroid cancer, nonmedullary owl:Class MONDO:0032888 biolink:NamedThing neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies tmpak2llvmy_mondo_relaxed.owl NEDBAVC|NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES OMIM:618731 owl:Class GO:0019637 biolink:NamedThing organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. tmpak2llvmy_mondo_relaxed.owl organophosphate metabolism owl:Class NCBITaxon:85512 biolink:NamedThing Dicondylia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019779 biolink:NamedThing Renier-Gabreels-Jasper syndrome Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl Renier Gabreels Jasper syndrome GARD:0004672|UMLS:CN206720|SCTID:723501008|Orphanet:93975 https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome owl:Class MONDO:0030263 biolink:NamedThing leukodystrophy, hypomyelinating, 21 tmpak2llvmy_mondo_relaxed.owl HLD21|leukodystrophy, hypomyelinating, 21 OMIM:619310 owl:Class HP:0002615 biolink:NamedThing Hypotension Low Blood Pressure, vascular hypotension. tmpak2llvmy_mondo_relaxed.owl Arterial hypotension|Low blood pressure UMLS:C0020649|MSH:D007022|SNOMEDCT_US:45007003 HP:0006701|HP:0005127 human_phenotype owl:Class GO:0009617 biolink:NamedThing response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. tmpak2llvmy_mondo_relaxed.owl response to bacteria owl:Class MONDO:0002319 biolink:NamedThing phosphorus metabolism disease A metabolic disorder that affects the phosphate homeostasis. tmpak2llvmy_mondo_relaxed.owl phosphorus disorder|phosphorus metabolic disorder|disorder of phosphorus metabolism|phosphorus metabolism disorder NCIT:C97095|MESH:D010760|ICD10:E83.3|SCTID:87049008|UMLS:C0031707|ICD9:275.3|DOID:2485 owl:Class ENVO:01000307 biolink:NamedThing saline water environment An environmental system which has its properties and dynamics determined by saline water. tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0000019 biolink:NamedThing gynoecium primordium A floral structure primordium (PO:0025477) that is committed to the development of a gynoecium (PO:0009062). tmpak2llvmy_mondo_relaxed.owl pistil primordium (exact)|portion of gynoecium primordium tissue (exact)|primordio de gineceo (Spanish, exact)|雌蕊原基(可視的） (Japanese, exact) PO_GIT:465 Use carpel primordium (PO:0004703) for the primordium (PO:0025127) of an individual carpel (PO:0009030). plant_anatomy owl:Class MONDO:0011144 biolink:NamedThing neuronal ceroid lipofuscinosis 6 Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpak2llvmy_mondo_relaxed.owl neuronal ceroid lipofuscinosis type 6|CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis 6 variable age of onset|ceroid lipofuscinosis, neuronal, type 6|CLN6|neuronal ceroid lipofuscinosis, late infantile, variant|CLN6 late infantile neuronal ceroid lipofuscinosis|CLN6 disease|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|ceroid lipofuscinosis, neuronal, 6|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 6, variable Age at onset|CLN6 disease, late infantile (subtype) Orphanet:228363|DOID:0110729|MESH:C566627|OMIM:601780|ICD10:E75.4|GARD:0001224 https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 owl:Class MONDO:0008768 biolink:NamedThing neuronal ceroid lipofuscinosis 4A Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. tmpak2llvmy_mondo_relaxed.owl adult neuronal ceroid lipofuscinosis 4A|Kuf's disease type A|Kuf's disease, autosomal recessive|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN4A|CLN4A disease|neuronal ceroid lipofuscinosis caused by mutation in CLN6|neuronal ceroid lipofuscinosis type 4A|CLN6 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive Orphanet:228340|OMIM:204300|ICD10:E75.4|DOID:0110730|GARD:0006845 owl:Class MONDO:0014645 biolink:NamedThing BENTA disease BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions. tmpak2llvmy_mondo_relaxed.owl keratan sulfates|keratosulfate owl:Class MONDO:0004526 biolink:NamedThing mixed endometrial stromal and smooth muscle tumor A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl Stromomyoma|mixed endometrial stromal and smooth muscle neoplasm|uterine corpus soft tissue neoplasm NCIT:C40178|DOID:8302|UMLS:C1519865|UMLS:C1513364 owl:Class GO:0007599 biolink:NamedThing hemostasis The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003519 biolink:NamedThing malignant syringoma A malignant form of syringoma. tmpak2llvmy_mondo_relaxed.owl MAC|syringoma, malignant|microcystic adnexal carcinoma|microcystic adnexal carcinoma of skin|syringomatous carcinoma DOID:5569|SCTID:254712007|NCIT:C7581|GARD:0010438|UMLS:C0346027|ONCOTREE:MAC owl:Class MONDO:0016981 biolink:NamedThing infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome tmpak2llvmy_mondo_relaxed.owl infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet:263410|UMLS:CN202284 owl:Class HP:0011110 biolink:NamedThing Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. tmpak2llvmy_mondo_relaxed.owl IRecurrent inflammation of tonsils MSH:D014069|SNOMEDCT_US:90176007|UMLS:C0040425 peter 2011-06-10T07:46:38Z human_phenotype owl:Class MONDO:0015665 biolink:NamedThing scleromyxedema Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. tmpak2llvmy_mondo_relaxed.owl myxedematosus, lichen|Scleromyxedema|mucinosis, papular|scleromyxoedema|Arndt-Gottron disease|generalized papular and sclerodermoid|papular mucinosis|generalized lichenoid papular eruption|lichen myxedematosus|generalized papular and sclerodermoid lichen myxedematosus ICD9:701.8|SCTID:402468007|NCIT:C85061|GARD:0007615|Orphanet:167635|UMLS:C0263390|UMLS:CN200092|ICD10:L98.5|MedDRA:10055046|MESH:D053718 https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema owl:Class MONDO:0017048 biolink:NamedThing pseudomyxoma peritonei Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. tmpak2llvmy_mondo_relaxed.owl PMP|mucinous ascites|well differentiated peritoneal mucinous adenocarcinoma|gelatinous ascites|pseudomyxoma peritonei (morphologic abnormality)|peritoneal cavity pseudomyxoma peritonei|pseudomyxoma peritonei|Myxoma peritonei|Adenomucinosis|syndrome of pseudomyxoma peritonei EFO:0007456|MESH:D011553|MedDRA:10037138|UMLS:C0033822|NCIT:C3345|Orphanet:26790|ICDO:8480/6|SCTID:307601000|ICD10:C78.6|GARD:0007488|DOID:3559|GARD:0002448 owl:Class MONDO:0018330 biolink:NamedThing mucinous adenocarcinoma of the appendix Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. tmpak2llvmy_mondo_relaxed.owl appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma ICD10:C18.1|UMLS:C1706832|Orphanet:391723|NCIT:C43558|ONCOTREE:MAAP owl:Class MONDO:0021396 biolink:NamedThing polyp of vulva A polyp that involves the mammalian vulva. tmpak2llvmy_mondo_relaxed.owl vulva polyp|mammalian vulva polyp|vulvar polyp|polyp of the vulva ICD10:N84.3|NCIT:C3978|SCTID:57158005|ICD9:624.6|UMLS:C0269218 owl:Class MONDO:0016758 biolink:NamedThing microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl microcephaly - brain defect - spasticity - hypernatremia|microcephaly brain defect spasticity hypernatremia|Franek-Bocker-Kahlen syndrome Orphanet:2523|UMLS:CN202009|GARD:0003607|ICD10:G98 https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia owl:Class ENVO:00002203 biolink:NamedThing inorganically enriched sediment Chemically-enriched sediment which has increased levels of inorganic compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00002114 biolink:NamedThing chemically enriched sediment Sediment which has increased levels of one or more chemical compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:58023 biolink:NamedThing Tracheophyta tmpak2llvmy_mondo_relaxed.owl vascular plants GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:3193 biolink:NamedThing Embryophyta tmpak2llvmy_mondo_relaxed.owl land plants|higher plants|plants GC_ID:1 ncbi_taxonomy owl:Class HGNC:11444 biolink:NamedThing STXBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022293 biolink:NamedThing reproductive gland secretion A portion of organism substance that is secreted by a reproductive gland. tmpak2llvmy_mondo_relaxed.owl reproductive system fluid|reproductive system fluid/secretion|genital fluid|reproductive system secretion|genital secretion owl:Class MONDO:0000241 biolink:NamedThing Keshan disease A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. tmpak2llvmy_mondo_relaxed.owl congestive cardiomyopathy due to selenium deficiency|enlarged heart and poor heart function|coxsackievirus infectious disease DOID:0050083|MESH:C536166|ICD9:269.3|UMLS:C0010246|GARD:0008761|UMLS:C0268095|SCTID:46939000|MESH:D003384|EFO:0007226 https://rarediseases.info.nih.gov/diseases/8761/keshan-disease owl:Class MONDO:0011433 biolink:NamedThing anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome MESH:C565796|UMLS:C1858537|OMIM:604315 owl:Class NCIT:C12917 biolink:NamedThing Malignant Cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012968 biolink:NamedThing Usher syndrome type 1H An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. tmpak2llvmy_mondo_relaxed.owl USH1H|Usher syndrome type IH|USHER syndrome, type IH ICD10:H35.5|UMLS:C2675458|MESH:C567227|DOID:0110835|OMIM:612632 owl:Class MONDO:0007917 biolink:NamedThing lymphedema-cerebral arteriovenous anomaly syndrome Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. tmpak2llvmy_mondo_relaxed.owl lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet MESH:C563612|Orphanet:86914|UMLS:C1835272|OMIM:152900|GARD:0009217 owl:Class HGNC:16290 biolink:NamedThing TRIM33 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001952 biolink:NamedThing Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). tmpak2llvmy_mondo_relaxed.owl Glucose intolerance|Abnormal glucose tolerance UMLS:C0235401 HP:0000833 human_phenotype owl:Class HGNC:8943 biolink:NamedThing SERPINI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004730 biolink:NamedThing speech disorder A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. tmpak2llvmy_mondo_relaxed.owl speech impediment or impairment NCIT:C5041|MESH:D013064|UMLS:C0037822|DOID:92|ICD9:784.49|SCTID:47004009|ICD9:784.40 owl:Class MONDO:0023388 biolink:NamedThing pityriasis rotunda Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. tmpak2llvmy_mondo_relaxed.owl Pityriasis rotunda SCTID:238639005|GARD:0010904|UMLS:C0343060 owl:Class HGNC:2252 biolink:NamedThing CORO1A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051590 biolink:NamedThing positive regulation of neurotransmitter transport Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl activation of neurotransmitter transport|stimulation of neurotransmitter transport|up regulation of neurotransmitter transport|up-regulation of neurotransmitter transport|upregulation of neurotransmitter transport owl:Class ENVO:01001526 biolink:NamedThing frozen soil Soil which is below the freezing point of water. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012754 biolink:NamedThing nanophthalmos 3 tmpak2llvmy_mondo_relaxed.owl NNO3|nanophthalmos 3|Nanophthalmia 3 UMLS:C2678467|OMIM:611897|MESH:C567498 owl:Class MONDO:0023188 biolink:NamedThing Freiberg disease Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. tmpak2llvmy_mondo_relaxed.owl Freiberg's disease|Freiberg-Kohler syndrome|Freiberg's infraction|Kohler's second disease|Osteochondrosis of the metatarsal head, usually the second|second metatarsal osteochondrosis SCTID:28466007|GARD:0002380|UMLS:C0264099|MESH:C535636 https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease owl:Class UBERON:0011164 biolink:NamedThing neurocranium bone A bone that is part of a neurocranium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl chondrocranium bone owl:Class CHEBI:33266 biolink:NamedThing diatomic nitrogen tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33267 biolink:NamedThing elemental nitrogen tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011655 biolink:NamedThing alveolar soft part sarcoma An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. tmpak2llvmy_mondo_relaxed.owl alveolar soft PART sarcoma|pediatric alveolar soft Part sarcoma|alveolar soft-tissue sarcoma|alveolar soft part sarcoma|adult alveolar soft-Part sarcoma|childhood alveolar soft part sarcoma|alveolar soft part sarcoma (disease)|adult alveolar soft part sarcoma|alveolar soft-part sarcoma|alveolar soft Part sarcoma|ASPS|adult alveolar soft Part sarcoma|alveolar soft tissue sarcoma alveolar soft part sarcoma (disease) ICD9:171.9|NCIT:C3750|EFO:0007143|MedDRA:10001882|SCTID:404056007|UMLS:C0206657|ONCOTREE:ASPS|NCIT:C7943|ICD10:C49.9|UMLS:C0279544|ICDO:9581/3|MESH:D018234|HP:0012218|DOID:4239|GARD:0005654|OMIM:606243|Orphanet:163699 owl:Class MONDO:0013376 biolink:NamedThing microphthalmia, isolated, with coloboma 6 tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with coloboma 6|microphthalmia, isolated, with coloboma type 6|MCOPCB6 OMIM:613703|UMLS:C3150968 owl:Class NCBITaxon:2662056 biolink:NamedThing Retaria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0700006 biolink:NamedThing non-idiopathic A disease characteristic in which the disease has a known cause. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HP:0002693 biolink:NamedThing Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. tmpak2llvmy_mondo_relaxed.owl Abnormality of cranial base|Abnormality of the skull base UMLS:C4025688 human_phenotype owl:Class NBO:0000550 biolink:NamedThing recognition memory "Ability to correctly remember something that has been encountered before." [wikipedia:Recognition_memory] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000755 biolink:NamedThing ectopic pregnancy An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. tmpak2llvmy_mondo_relaxed.owl eccyesis|extrauterine pregnancy|pregnancy, ectopic DOID:0060329|SCTID:34801009|ICD9:633.9|ICD9:633|MESH:D011271|ICD9:633.8|GARD:0006318|NCIT:C34945|ICD9:633.90|ICD10:O00|ICD10:O00.9 https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy owl:Class MONDO:0003399 biolink:NamedThing pineal region yolk sac tumor A yolk sac tumor that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl pineal body yolk sac tumor|pineal region yolk Sac neoplasm|pineal region endodermal sinus tumor|pineal endodermal sinus neoplasm|endodermal sinus tumor of the pineal region|yolk Sac tumor of pineal region|pineal endodermal sinus tumor|pineal region endodermal sinus neoplasm|pineal region yolk sac tumor|endodermal sinus tumor of pineal region|yolk Sac tumor of the pineal region DOID:5341|UMLS:C1335420|NCIT:C6752 owl:Class GO:0050968 biolink:NamedThing detection of chemical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a chemical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory detection of chemical stimulus during perception of pain|perception of pain, sensory detection of chemical stimulus|perception of pain, sensory transduction of chemical stimulus|sensory transduction of chemical stimulus during perception of pain|perception of pain, detection of chemical stimulus|chemical nociception owl:Class MONDO:0020678 biolink:NamedThing sensorineural hearing loss disorder Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). tmpak2llvmy_mondo_relaxed.owl sensorineural hearing loss|sensorineural hearing loss disorder|neurosensory deafness|sensorineural deafness|SNHL HP:0000407|SCTID:60700002|NCIT:C26739 owl:Class MONDO:0004431 biolink:NamedThing hemarthrosis Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. tmpak2llvmy_mondo_relaxed.owl hemarthrosis involving ankle and foot|hemarthrosis of hand|hemarthrosis involving forearm|haemarthrosis of the pelvic region and thigh|hemarthrosis involving shoulder region|haemarthrosis of the ankle and foot|hemarthrosis of the pelvic region and thigh|hemarthrosis of upper arm|hemarthrosis involving hand|hemarthrosis of the ankle and foot|hemarthrosis of shoulder|hemarthrosis involving lower leg|hemarthrosis involving upper arm|hemarthrosis of forearm|hemarthrosis of lower leg|haemarthrosis of shoulder joint|hemarthrosis of shoulder region|hemarthrosis involving pelvic region and thigh|hemarthrosis of the hand|hemarthrosis of the upper arm|hemarthrosis of the shoulder region|hemarthrosis of the forearm|hemarthrosis of the ankle and/or foot|hemarthrosis of ankle and/or foot|hemarthrosis of the lower leg MESH:D006395|UMLS:C0158159|SCTID:81808003|ICD9:719.18|DOID:801|ICD10:M25.0|ICD9:719.10|ICD9:719.1|EFO:1001344 owl:Class MONDO:0010324 biolink:NamedThing intellectual disability, X-linked 81 tmpak2llvmy_mondo_relaxed.owl MRX81|mental retardation, X-linked 81|intellectual disability, X-linked 81 MESH:C564515|OMIM:300433|UMLS:C1845531 owl:Class MONDO:0020532 biolink:NamedThing spirillary rat-bite fever Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. tmpak2llvmy_mondo_relaxed.owl sodoku disease|sodoku|Spirillary fever|spirillosis Orphanet:99903|DOID:12096|ICD10:A25.0|ICD9:026.0|SCTID:19044004 owl:Class MONDO:0022810 biolink:NamedThing Combarros Calleja Leno syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001449 https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome owl:Class MONDO:0004748 biolink:NamedThing lip disease A disease involving the lip. tmpak2llvmy_mondo_relaxed.owl lip disease|disease of lip|lip disease or disorder|disease of lips|disease or disorder of lip|disorder of lip|lip disorder SCTID:90678009|MESH:D008047|DOID:9297|UMLS:C0023760|ICD10:K13.0|NCIT:C26818|ICD9:528.5 owl:Class MONDO:0010311 biolink:NamedThing Becker muscular dystrophy Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpak2llvmy_mondo_relaxed.owl benign congenital myopathy|muscular dystrophy, Becker type|muscular dystrophy, pseudohypertrophic progressive, Becker type|benign pseudohypertrophic muscular dystrophy|Becker dystrophinopathy|Becker muscular dystrophy|muscular dystrophy pseudohypertrophic progressive, Becker type|BMD|Becker's muscular dystrophy OMIM:300376|MedDRA:10059117|NCIT:C84587|Orphanet:98895|UMLS:C0699741|GARD:0005900|UMLS:C3490459|DOID:9883|ICD10:G71.0|MESH:C570377|SCTID:387732009 https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy owl:Class HGNC:13830 biolink:NamedThing CNTNAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002469 biolink:NamedThing esophagus mucosa A mucosa that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of esophagus|oesophagus mucosa|esophageal mucosa|tunica mucosa oesophagi|tunica mucosa esophagi|esophagus mucosa|esophageal mucous membrane|mucous membrane of oesophagus|muscularis mucosae of oesophagus|esophagus mucous membrane|tunica mucosa oesophageae|oesophageal mucosa|lamina muscularis mucosae oesophageae|oesophagus mucous membrane|mucous membrane of esophagus|mucosa of oesophagus owl:Class UBERON:0004271 biolink:NamedThing outflow tract pericardium A pericardium that is part of a outflow tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pericardium of outflow tract owl:Class MONDO:0022574 biolink:NamedThing biliary atresia intrahepatic syndromic form tmpak2llvmy_mondo_relaxed.owl GARD:0000888 https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form owl:Class HP:0033354 biolink:NamedThing Abnormal urine metabolite level Any deviation from the normal concentration of a metabolite in urine. tmpak2llvmy_mondo_relaxed.owl 2020-12-01 12:00:51+00:00 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. peter human_phenotype owl:Class CL:0002554 biolink:NamedThing fibroblast of lymphatic vessel A fibroblast of the lymphatic system. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:16:18Z cell owl:Class CL:0000995 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor tmpak2llvmy_mondo_relaxed.owl CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). cell owl:Class NCBITaxon:11974 biolink:NamedThing Caliciviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001396 biolink:NamedThing abnormal threshold of rods tmpak2llvmy_mondo_relaxed.owl abnormal dark adaptation curve ICD9:368.63|DOID:11874|SCTID:50455002|ICD10:H53.61|UMLS:C0155019 owl:Class MONDO:0013522 biolink:NamedThing dyskeratosis congenita, autosomal dominant 3 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. tmpak2llvmy_mondo_relaxed.owl dyskeratosis congenita, autosomal dominant 3|autosomal dominant dyskeratosis congenita 3|DKCA3|dyskeratosis congenita, autosomal dominant type 3 UMLS:C3151445|DOID:0070018|OMIM:613990 owl:Class MONDO:0006053 biolink:NamedThing renal leiomyoma A leiomyoma that involves the kidney. tmpak2llvmy_mondo_relaxed.owl kidney leiomyoma|leiomyoma of kidney EFO:1000050 owl:Class MONDO:0024563 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 1 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene. tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1|herpes simplex encephalitis caused by mutation in UNC93B1|herpes simplex encephalitis, susceptibility to, 1|IIAE1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|encephalopathy, acute, infection-induced, susceptibility to, 1|UNC93B1 herpes simplex encephalitis OMIM:610551 owl:Class MONDO:0003355 biolink:NamedThing ovary leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of ovary|leiomyosarcoma of the ovary|ovarian leiomyosarcoma|ovary leiomyosarcoma DOID:5263|NCIT:C5234|EFO:0006718|UMLS:C1335163 owl:Class HGNC:6929 biolink:NamedThing MC1R tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002257 biolink:NamedThing epithelial cell of thyroid gland An epithelial cell of thyroid gland. tmpak2llvmy_mondo_relaxed.owl FMA:256167 tmeehan 2010-09-08T01:46:51Z CL:1000297 cell owl:Class MONDO:0000974 biolink:NamedThing axillary lipoma A benign adipose tissue neoplasm of the axilla. tmpak2llvmy_mondo_relaxed.owl axillary lipoma|lipoma of axilla|axilla lipoma UMLS:C0347429|NCIT:C35419|SCTID:188993006|DOID:10205|ICD9:214.8 owl:Class UBERON:0013508 biolink:NamedThing thoracic vertebra pre-cartilage condensation A thoracic vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021191 biolink:NamedThing malignant ependymoma A malignant form of ependymoma. tmpak2llvmy_mondo_relaxed.owl ependymal tumors|ependymoma, malignant UMLS_CUI:C1333407|DOID:5074 owl:Class HGNC:3091 biolink:NamedThing DYRK1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010022 biolink:NamedThing senile plaque formation tmpak2llvmy_mondo_relaxed.owl senile plaque formation OMIM:269800 owl:Class UBERON:0003505 biolink:NamedThing trachea blood vessel A blood vessel that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl blood vessel of trachea owl:Class MONDO:0100013 biolink:NamedThing paratenonitis with tendinosis Paratenonitis associated with intratendinous degeneration. tmpak2llvmy_mondo_relaxed.owl 2018-07-17 16:02:57+00:00 owl:Class MONDO:0100012 biolink:NamedThing paratenonitis Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. tmpak2llvmy_mondo_relaxed.owl 2018-07-17 16:02:16+00:00 owl:Class UBERON:0004000 biolink:NamedThing tarsal gland acinus A sac-like structure comprising a sebaceous gland. tmpak2llvmy_mondo_relaxed.owl acinus of tarsal gland|Meibomian gland acinus|palpebral gland acinus owl:Class GO:0032468 biolink:NamedThing Golgi calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. tmpak2llvmy_mondo_relaxed.owl Golgi calcium ion concentration regulation|regulation of calcium ion concentration in Golgi|calcium ion homeostasis in Golgi|regulation of Golgi calcium ion concentration owl:Class GO:0000271 biolink:NamedThing polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpak2llvmy_mondo_relaxed.owl polysaccharide formation|polysaccharide biosynthesis|glycan biosynthesis|polysaccharide anabolism|glycan biosynthetic process|polysaccharide synthesis owl:Class MONDO:0005030 biolink:NamedThing fetal growth restriction A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. tmpak2llvmy_mondo_relaxed.owl fetal SGA|fetal Growth retardation|intrauterine Growth restriction|fetal growth retardation|intrauterine Growth retardation|fetal small for gestational Age|IUGR|fetus small for gestational Age ICD9:764.99|ICD9:764.93|ICD9:764.96|ICD9:764.92|ICD9:764.98|EFO:0000495|ICD9:764.9|ICD9:764.95|ICD9:764.90|ICD9:764.97|ICD9:764.94|NCIT:C114875|MESH:D005317|ICD9:764.91|SCTID:22033007 Editor note: check if should be a disease owl:Class MONDO:8000018 biolink:NamedThing benign paroxysmal positional vertigo Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. tmpak2llvmy_mondo_relaxed.owl vestibulopathy, familial|familial benign recurrent vertigo|BPPV|benign paroxysmal positional nystagmus|BRV|familial vestibulopathy|benign paroxysmal positional vertigo|vertigo, benign paroxysmal positional|vertigo, benign recurrent OMIM:193007|GARD:0005915|DOID:13941|ICD9:386.11|UMLS:C0155502|SCTID:111541001 owl:Class HP:0001336 biolink:NamedThing Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. tmpak2llvmy_mondo_relaxed.owl Jerking|Involuntary jerking movements|Myoclonic jerks UMLS:C0027066|SNOMEDCT_US:127324008|MSH:D009207|SNOMEDCT_US:17450006|UMLS:C1854302 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. HP:0002535|HP:0007087 human_phenotype owl:Class MONDO:0012211 biolink:NamedThing MPDU1-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. tmpak2llvmy_mondo_relaxed.owl CDG-If|CDGIf|CDG1F|congenital disorder of glycosylation, type If|congenital disorder of glycosylation type 1f|CDG syndrome type If|congenital disorder of glycosylation type If|CDG If|CDG 1F|carbohydrate-deficient glycoprotein syndrome type 1F|MPDU1-CDG (CDG-If)|carbohydrate deficient glycoprotein syndrome type If Orphanet:79323|UMLS:C1836669|GARD:0009832|NCIT:C126872|SCTID:724096007|DOID:0080558|ICD10:E77.8|OMIM:609180|MESH:C535744 owl:Class MONDO:0015019 biolink:NamedThing susceptibility to Yao syndrome tmpak2llvmy_mondo_relaxed.owl YAOS|Yao syndrome OMIM:617321|SCTID:768667002|UMLS:C4310620 owl:Class HGNC:318 biolink:NamedThing AGA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007962 biolink:NamedThing Megalodactyly A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. tmpak2llvmy_mondo_relaxed.owl Megalodactyly|macrodactyly SCTID:48449000|OMIM:155500|NCIT:C48900|MESH:C562546 owl:Class MONDO:0020432 biolink:NamedThing ectasia of the right atrial appendage Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. tmpak2llvmy_mondo_relaxed.owl dilatation of the right atrial appendage|ectasia of the right atrial auricle|dilatation of the right atrial auricle ICD10:Q20.8|Orphanet:99101 owl:Class MONDO:0000079 biolink:NamedThing nephrolithiasis/osteoporosis, hypophosphatemic tmpak2llvmy_mondo_relaxed.owl OMIMPS:612286|DOID:0080655 owl:Class NCBITaxon:63671 biolink:NamedThing Turbinidae tmpak2llvmy_mondo_relaxed.owl turban shells GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:216285 biolink:NamedThing Trochoidea tmpak2llvmy_mondo_relaxed.owl Phasianelloidea|Turbinoidea|Trochoidea GC_ID:1 NCBITaxon:1756885|NCBITaxon:479458 ncbi_taxonomy owl:Class MONDO:0014896 biolink:NamedThing congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome tmpak2llvmy_mondo_relaxed.owl MDCDC|congenital muscular dystrophy, Davignon-Chauveau type|muscular dystrophy, congenital, Davignon-Chauveau type UMLS:C4310736|Orphanet:486815|OMIM:617066 owl:Class MONDO:0000638 biolink:NamedThing benign glioma A form of glioma without malignant characteristics. tmpak2llvmy_mondo_relaxed.owl glioma, benign DOID:0060101 owl:Class MONDO:0006245 biolink:NamedThing hidradenocarcinoma A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes. tmpak2llvmy_mondo_relaxed.owl hidradenocarcinoma|clear cell eccrine carcinoma GARD:0010439|EFO:1000295|NCIT:C54664|ICDO:8402/3 owl:Class MONDO:0003325 biolink:NamedThing nodular ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. tmpak2llvmy_mondo_relaxed.owl ganglioneuroblastoma, nodular NCIT:C42058|UMLS:C1517445|DOID:5193 owl:Class MONDO:0012309 biolink:NamedThing parietal foramina 2 Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene. tmpak2llvmy_mondo_relaxed.owl parietal foramina caused by mutation in ALX4|PFM2|parietal foramina 2|ALX4 parietal foramina|parietal foramina type 2 MESH:C566510|OMIM:609597|UMLS:C1865044 owl:Class MONDO:0008637 biolink:NamedThing bifid uvula Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. tmpak2llvmy_mondo_relaxed.owl bifidity of the uvula|uvular cleft|uvula, bifid|uvula, cleft SCTID:18910001|OMIM:192100|Orphanet:99771|ICD10:Q35.7 owl:Class MONDO:0017993 biolink:NamedThing cerebral sinovenous thrombosis A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents. tmpak2llvmy_mondo_relaxed.owl CSVT Orphanet:329217|ICD10:I67.6 owl:Class MONDO:0020835 biolink:NamedThing methemoglobinemia, alpha type tmpak2llvmy_mondo_relaxed.owl methemoglobinemia, alpha type OMIM:617973 owl:Class MONDO:0014714 biolink:NamedThing progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. tmpak2llvmy_mondo_relaxed.owl seizures, cortical blindness, and microcephaly syndrome|seizures, cortical blindness, microcephaly syndrome|SCBMS Orphanet:477814|OMIM:616632|UMLS:C4225261 owl:Class MONDO:0008826 biolink:NamedThing arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl arthrogryposis with hyperkeratosis|Johnston Aarons Schelley syndrome|Johnston-Aarons-Schelley syndrome|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns UMLS:C1859710|Orphanet:1485|MESH:C535883|GARD:0003053|SCTID:726620005|OMIM:208158 owl:Class MONDO:0016671 biolink:NamedThing sickle cell-hemoglobin E disease syndrome tmpak2llvmy_mondo_relaxed.owl HbSE disease ICD10:D57.2|UMLS:C0272085|Orphanet:251375 owl:Class CL:0000154 biolink:NamedThing protein secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0018088 biolink:NamedThing familial Mediterranean fever Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. tmpak2llvmy_mondo_relaxed.owl FMF|familial paroxysmal polyserositis|periodic disease|benign paroxysmal peritonitis|benign recurrent polyserositis MESH:D010505|DOID:2987|ICD10:E85.0|NCIT:C84707|MedDRA:10016207|UMLS:C0031069|ICD9:277.31|SCTID:12579009|Orphanet:342|GARD:0006421 owl:Class MONDO:0054741 biolink:NamedThing combined oxidative phosphorylation deficiency 34 tmpak2llvmy_mondo_relaxed.owl COXPD34|combined oxidative phosphorylation deficiency 34 OMIM:617872|DOID:0111497 owl:Class MONDO:0021067 biolink:NamedThing mediastinal germ cell tumor A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. tmpak2llvmy_mondo_relaxed.owl thymic germ cell tumor|germ cell neoplasm of the mediastinum|mediastinal germ cell neoplasm|germ cell neoplasm of mediastinum|mediastinal germ cell tumor|germ cell tumor of the mediastinum|germ cell tumor of mediastinum|mediastinum germ cell tumor UMLS:C1334655|NCIT:C6437 owl:Class HP:0004299 biolink:NamedThing Hernia of the abdominal wall The presence of a hernia in the abdominal wall. tmpak2llvmy_mondo_relaxed.owl Herniated abdominal wall SNOMEDCT_US:128545000|Fyler:4414|UMLS:C1442978 A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. peter 2008-02-20T11:42:00Z human_phenotype owl:Class HP:0010866 biolink:NamedThing Abdominal wall defect An incomplete closure of the abdominal wall. tmpak2llvmy_mondo_relaxed.owl Congenital anterior abdominal wall defect|Abdominal wall defect UMLS:C0238577 peter 2010-08-03T09:55:15Z human_phenotype owl:Class UBERON:0009668 biolink:NamedThing ventral mesentery Ventral mesentery is the part of the peritoneum closest to the navel. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003711 biolink:NamedThing brachiocephalic vein The left and right brachiocephalic veins in the upper chest are formed by the union of each corresponding internal jugular vein and subclavian vein. This is at the level of the sternoclavicular joint. These great vessels merge to form the superior vena cava. The brachiocephalic veins are the major veins returning blood to the superior vena cava. tmpak2llvmy_mondo_relaxed.owl innomiate vein|innominate vein|vena brachiocephalica|venae anonyma|innominate trunk|innominate veins|brachiocephalic venous tree owl:Class UBERON:0004435 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 5 A proximal epiphysis that is part of a distal phalanx of manual digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl basal epiphysis of distal phalanx of fifth finger|proximal epiphysis of distal phalanx of little finger|basal epiphysis of distal phalanx of little finger|base of distal phalanx of fifth finger|base of distal phalanx of fifth digit of hand|base of distal phalanx of little finger|proximal epiphysis of distal phalanx of manual digit V owl:Class HGNC:29357 biolink:NamedThing ASXL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002942 biolink:NamedThing sebaceous basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl skin basosebaceous basal cell carcinoma DOID:4286 owl:Class UBERON:0014719 biolink:NamedThing intralobular duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular tmpak2llvmy_mondo_relaxed.owl intralobular ductule owl:Class MONDO:0019572 biolink:NamedThing autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). tmpak2llvmy_mondo_relaxed.owl autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, type 1|ARCL1|autosomal recessive cutis laxa type 1|autosomal recessive cutis laxa type I|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa, pulmonary emphysema type GARD:8480|UMLS:CN206407|Orphanet:90349|MESH:C536225|GARD:0008480|DOID:0070144|ICD10:Q82.8|PMID:19401719|SCTID:254222002 owl:Class MONDO:0032781 biolink:NamedThing congenital hypotonia, epilepsy, developmental delay, and digital anomalies tmpak2llvmy_mondo_relaxed.owl CHEDDA|CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM:618494 owl:Class MONDO:0012807 biolink:NamedThing epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex with pyloric atresia|EBSPA|EBS with pyloric atresia|EBS-PA SCTID:716701004|UMLS:C2677349|MESH:C567408|Orphanet:158684|OMIM:612138|ICD10:Q81.0 owl:Class MONDO:0015022 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and ptosis tmpak2llvmy_mondo_relaxed.owl IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis OMIM:617333|UMLS:C4310617|EFO:0009070 owl:Class GO:1902117 biolink:NamedThing positive regulation of organelle assembly Any process that activates or increases the frequency, rate or extent of organelle assembly. tmpak2llvmy_mondo_relaxed.owl activation of organelle assembly|up regulation of organelle assembly|up-regulation of organelle assembly|upregulation of organelle assembly owl:Class PO:0025395 biolink:NamedThing floral organ A plant organ (PO:0009008) that is part of a flower (PO:0009046). tmpak2llvmy_mondo_relaxed.owl órgano floral (Spanish, exact)|花器官 (Japanese, exact)|flower organ (exact) PO_GIT:423 Includes phyllomes such as anthers and petals, as well as shoot axes such as androphores and gynophores. rwalls 2012-01-19T11:44:36Z plant_anatomy owl:Class PO:0009008 biolink:NamedThing plant organ A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path. tmpak2llvmy_mondo_relaxed.owl simple plant organ (related)|compound plant organ (related)|órgano vegetal (Spanish, exact)|植物 器官 (Japanese, exact)|organ (broad) PO_GIT:55 Examples include stem (PO:0009047), leaf (PO:0025034), and root (PO:0009005). May include individual plant cells (PO:0009002) that are not part of a portion of plant tissue (e.g., idioblasts, PO:0000283). A plant organ may have one or more different plant organs as parts, such as a sporophyll (PO:0009026) that may have as part a sporangium (PO:0025094) or a carpel (PO:0009030) that may have as part a plant ovule (PO:0020003). plant_anatomy owl:Class MONDO:0000616 biolink:NamedThing progesterone-receptor negative breast cancer tmpak2llvmy_mondo_relaxed.owl DOID:0060078 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class MONDO:0100267 biolink:NamedThing peroxisome biogenesis disorder due to PEX13 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene. tmpak2llvmy_mondo_relaxed.owl PEX13 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX13 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0018323 biolink:NamedThing HSD10 disease, neonatal type HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. tmpak2llvmy_mondo_relaxed.owl 2-methyl-3-hydroxybutyric aciduria, neonatal type|HSD10 deficiency, neonatal type|MHBD deficiency, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type Orphanet:391457|UMLS:CN204975|ICD10:E72.8 owl:Class MONDO:0029143 biolink:NamedThing intellectual developmental disorder with hypertelorism and distinctive facies tmpak2llvmy_mondo_relaxed.owl chromosome 14q32 deletion syndrome|IDDHDF|INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES OMIM:618147 owl:Class MONDO:0001307 biolink:NamedThing corneal abscess An abscess of the cornea. tmpak2llvmy_mondo_relaxed.owl NCIT:C26969|DOID:11543|UMLS:C0155091|ICD9:370.55|ICD10:H16.31|SCTID:64366002 Editor note: consider placing in HPO owl:Class CHEBI:173085 biolink:NamedThing ferroptosis inducer Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. tmpak2llvmy_mondo_relaxed.owl ferroptosis inducers owl:Class CHEBI:52206 biolink:NamedThing biochemical role A biological role played by the molecular entity or part thereof within a biochemical context. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008459 biolink:NamedThing spinocerebellar atrophy with pupillary paralysis tmpak2llvmy_mondo_relaxed.owl spinocerebellar atrophy with pupillary paralysis UMLS:C1866746|MESH:C566668|OMIM:183100 owl:Class MONDO:0001553 biolink:NamedThing phacolytic glaucoma An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens. tmpak2llvmy_mondo_relaxed.owl endophthalmitis phacoanaphylactica SCTID:32893002|ICD9:365.51|UMLS:C0152137|DOID:12570 owl:Class MONDO:0014734 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 14 tmpak2llvmy_mondo_relaxed.owl EIG14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14|epilepsy, idiopathic generalized, susceptibility to, 14|epilepsy, idiopathic generalized, susceptibility to, type 14|susceptibility to idiopathic generalized epilepsy 14 DOID:0111315|OMIM:616685 owl:Class MONDO:0030331 biolink:NamedThing Ritscher-Schinzel syndrome 4 tmpak2llvmy_mondo_relaxed.owl RTSC4|Ritscher-Schinzel syndrome 4 OMIM:619435 owl:Class MONDO:0013029 biolink:NamedThing cerebellar ataxia type 9 tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia type 9|spinocerebellar ataxia type 9|SCA9|spinocerebellar ataxia 9 OMIM:612876|GARD:0010481|DOID:0111747|UMLS:C3887996 owl:Class MONDO:0029135 biolink:NamedThing muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 tmpak2llvmy_mondo_relaxed.owl LGMD-POMGNT2 related myopathy|muscular dystrophy, limb-girdle, autosomal recessive 24|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8|MDDGC8|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related OMIM:618135 owl:Class GO:0035305 biolink:NamedThing negative regulation of dephosphorylation Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. tmpak2llvmy_mondo_relaxed.owl downregulation of dephosphorylation|down regulation of dephosphorylation|down-regulation of dephosphorylation|inhibition of dephosphorylation owl:Class MONDO:0014631 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability tmpak2llvmy_mondo_relaxed.owl HOMGSMR|hypomagnesemia, seizures, and mental retardation|hypomagnesemia, seizures, and intellectual disability UMLS:C4225333|OMIMPS:616418 owl:Class MONDO:0020950 biolink:NamedThing viral eye infection Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. tmpak2llvmy_mondo_relaxed.owl Eye Infection, Viral|Viral Ocular Infection|Infection, Viral Eye|Viral Eye Infections|Ocular Infection, Viral|EYE INFECT VIRAL|VIRAL EYE INFECT|viral eye infection|Eye Infections, Viral|Ocular Infections, Viral|OCULAR INFECT VIRAL|Viral eye infection|Viral Ocular Infections|Infection, Viral Ocular|Infections, Viral Eye|Infections, Viral Ocular|Viral Eye Infection MESH:D015828|UMLS:C0015407|SCTID:312132001 owl:Class MONDO:0007162 biolink:NamedThing asymmetric short stature syndrome tmpak2llvmy_mondo_relaxed.owl asymmetric short stature syndrome OMIM:108450|MESH:C566248|UMLS:C1862458 owl:Class UBERON:0010151 biolink:NamedThing duct of bulbourethral gland A duct that is part of a bulbo-urethral gland. tmpak2llvmy_mondo_relaxed.owl duct of bulbo-urethral gland|ductus glandulae bulbourethralis|bulbourethral gland duct owl:Class MONDO:0060642 biolink:NamedThing neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features tmpak2llvmy_mondo_relaxed.owl NEDMAGA|neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features OMIM:617865|UMLS:CN800196 owl:Class UBERON:0005047 biolink:NamedThing mucosa of vocal fold A mucosa that is part of a vocal cord [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of vocal cord|organ mucosa of vocal cord|mucosa of vocal cord|true vocal cord mucosa of organ|vocal cord mucous membrane|mucosa of true vocal cord|organ mucosa of true vocal cord|true vocal cord mucous membrane|mucosa of glottis|vocal fold mucosa|mucosa of organ of vocal cord|vocal cord organ mucosa|vocal cord mucosa of organ|true vocal cord organ mucosa|vocal cord mucosa|mucous membrane of true vocal cord|mucosa of organ of true vocal cord|true vocal cord mucosa owl:Class MONDO:0100424 biolink:NamedThing acute myeloid leukemia, NRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.) tmpak2llvmy_mondo_relaxed.owl AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation|AML, NRAS gene mutation|AML, N-RAS Gene Mutation owl:Class MONDO:0002705 biolink:NamedThing breast mucinous cystadenocarcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. tmpak2llvmy_mondo_relaxed.owl breast mucinous cystadenocarcinoma DOID:3609|UMLS:C1511318|NCIT:C40354 owl:Class MONDO:0003064 biolink:NamedThing inverted transitional cell papilloma A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. tmpak2llvmy_mondo_relaxed.owl transitional papilloma, inverted|inverted transitional papilloma|inverted transitional cell papilloma NCIT:C4118|ICDO:8121/1|UMLS:C0334269|DOID:4630 owl:Class MONDO:0003038 biolink:NamedThing dysgraphia Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994) tmpak2llvmy_mondo_relaxed.owl dysgraphia (disease)|dysgraphia dysgraphia (disease) DOID:4540|HP:0010526|ICD10:R48.8 owl:Class MONDO:0000599 biolink:NamedThing writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. tmpak2llvmy_mondo_relaxed.owl DOID:0060047 owl:Class HGNC:3349 biolink:NamedThing ENG tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000099 biolink:NamedThing Glomerulonephritis Inflammation of the renal glomeruli. tmpak2llvmy_mondo_relaxed.owl Glomerular nephritis UMLS:C0017658|MSH:D005921|SNOMEDCT_US:36171008 human_phenotype owl:Class HGNC:12586 biolink:NamedThing UQCRC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006436 biolink:NamedThing submandibular gland adenoid cystic carcinoma An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpak2llvmy_mondo_relaxed.owl submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of submandibular gland|adenoid cystic carcinoma of the submandibular gland NCIT:C5935|UMLS:C1336522|SCTID:423189008|EFO:1000555 owl:Class MONDO:0003839 biolink:NamedThing ovarian mucinous adenocarcinofibroma A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. tmpak2llvmy_mondo_relaxed.owl ovarian mucinous malignant adenofibroma|ovarian mucinous adenocarcinofibroma ICDO:9015/3|DOID:6278|NCIT:C40034|UMLS:C2212014 owl:Class MONDO:0024282 biolink:NamedThing mucinous ovarian cancer An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. tmpak2llvmy_mondo_relaxed.owl ovarian mucinous neoplasm, malignant|malignant ovarian mucinous tumor|malignant ovarian mucinous neoplasm NCIT:C40033|UMLS:C1518233|ONCOTREE:MOV owl:Class GO:0001227 biolink:NamedThing DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|RNA polymerase II transcriptional repressor activity, metal ion regulated proximal promoter sequence-specific DNA binding|transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding|transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in negative regulation of transcription|RNA polymerase II transcriptional repressor activity, metal ion regulated core promoter proximal region sequence-specific binding owl:Class MONDO:0016830 biolink:NamedThing Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy|EDMD|Humeroperoneal neuromuscular disease, (formerly)|scapuloperoneal syndrome, X-linked (formerly) UMLS:C0410189|Orphanet:261|ICD10:G71.0|OMIMPS:310300|MESH:D020389|NCIT:C84685|DOID:11726|SCTID:111508004|GARD:0006329 owl:Class MONDO:0009107 biolink:NamedThing diastrophic dysplasia Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). tmpak2llvmy_mondo_relaxed.owl diastrophic dysplasia|diastrophic dysplasia, Broad bone-Platyspondylic variant|DTD|diastrophic dwarfism|DD GARD:0006275|Orphanet:628|ICD9:756.89|SCTID:58561002|ICD10:Q77.5|DOID:14687|MESH:C536170|OMIM:222600 owl:Class MONDO:0002505 biolink:NamedThing childhood astrocytic tumor An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. tmpak2llvmy_mondo_relaxed.owl astrocytic tumor|astrocytic tumors, childhood|pediatric astrocytoma|juvenile astrocytoma (morphologic abnormality)|pediatric astrocytic neoplasm|astrocytic tumor of childhood|juvenile astrocytoma|childhood astrocytic neoplasm|childhood astrocytic tumour|childhood astrocytic tumor|pediatric astrocytic tumor NCIT:C9022|UMLS:C1321865|DOID:3079 owl:Class MONDO:0007296 biolink:NamedThing spinocerebellar ataxia type 31 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 31|spinocerebellar ataxia 16q22-linked|spinocerebellar ataxia type 31|spinocerebellar ataxia, 16Q22-linked|SCA31 Orphanet:217012|UMLS:C4274986|GARD:0009975|ICD10:G11.8|SCTID:715826005|DOID:0050980|UMLS:C1861736|OMIM:117210|MESH:C566146 owl:Class MONDO:0007717 biolink:NamedThing hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain tmpak2llvmy_mondo_relaxed.owl HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain UMLS:C1840647|OMIM:142309 owl:Class MONDO:0020920 biolink:NamedThing escherichia coli infection Infection with the organism Escherichia Coli. tmpak2llvmy_mondo_relaxed.owl Recurrent E. coli infections|E COLI INFECT|Bacterial infection due to E. coli|E coli Infections|Escherichia coli infection|Infection, Escherichia coli|escherichia coli infection|E coli Infection|Infection, E coli|Colibacillosis|Infection, E. coli|Infections, Escherichia coli|Infection caused by Escherichia coli|Infection due to Escherichia coli|ESCHERICHIA COLI INFECT|Bacterial infection caused by E. coli|E. coli Infection|INFECT E COLI|E Coli Infection|INFECT ESCHERICHIA COLI|E. coli infection|Escherichia coli Infections|Infections, E coli|Escherichia coli Infection|E. coli Infections|Escherichia Coli Infection|E coli infections|E coli infections, recurrent|e coli infection UMLS:C0014836|SCTID:71057007|MESH:D004927|EFO:1001318|GTR:AN0485755|GTR:AN0485754|NCIT:C34594|HP:0002740|GTR:AN0474198 owl:Class GO:0001870 biolink:NamedThing positive regulation of complement activation, lectin pathway Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway. tmpak2llvmy_mondo_relaxed.owl activation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|upregulation of complement activation, lectin pathway|stimulation of complement activation, lectin pathway|up regulation of complement activation, lectin pathway|up-regulation of complement activation, lectin pathway owl:Class MONDO:0015705 biolink:NamedThing autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpak2llvmy_mondo_relaxed.owl AR-CNM|centronuclear myopathy, autosomal recessive Orphanet:169186|SCTID:240081004|UMLS:C3645536|GARD:0012718|DOID:0111216|ICD10:G71.2 owl:Class MONDO:0016996 biolink:NamedThing NK-cell enteropathy Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. tmpak2llvmy_mondo_relaxed.owl Orphanet:263665|UMLS:C4509932|SCTID:723496007|ICD10:K63.8 Editor note: TODO - complete axioms owl:Class MONDO:0013997 biolink:NamedThing focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. tmpak2llvmy_mondo_relaxed.owl focal facial dermal dysplasia 4|FFDD4|focal facial preauricular dysplasia|FFDD type IV|focal Facial dermal dysplasia type 4 UMLS:C3554246|Orphanet:398189|ICD10:Q82.8|OMIM:614974 owl:Class MONDO:0000210 biolink:NamedThing thiopurine metabolic disease tmpak2llvmy_mondo_relaxed.owl OMIMPS:610460 owl:Class MONDO:0018884 biolink:NamedThing Roch-Leri mesosomatous lipomatosis Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. tmpak2llvmy_mondo_relaxed.owl Roch-Leri syndrome ICD10:E88.2|GARD:0004733|UMLS:C4274284|Orphanet:529|SCTID:716772007 https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis owl:Class CL:0009035 biolink:NamedThing stromal cell of lamina propria of vermiform appendix A stromal cell found in the lamina propria of the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl stromal cell of appendix lamina propria|stromal cell of lamina propria of appendix vermiformis owl:Class CL:0009021 biolink:NamedThing stromal cell of lamina propria of large intestine A stromal cell found in the lamina propria of the large intestine. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002556 biolink:NamedThing fibroblast of periodontium A fibroblast of the periodontium. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:19:48Z cell owl:Class MONDO:0003554 biolink:NamedThing adenosquamous colon carcinoma An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpak2llvmy_mondo_relaxed.owl colonic adenosquamous carcinoma|adenosquamous carcinoma of the colon|colon adenosquamous carcinoma|colon adenosquamous cancer|adenosquamous carcinoma of colon|adenosquamous colon carcinoma DOID:5629|NCIT:C5491|UMLS:C1333082 owl:Class HGNC:4440 biolink:NamedThing GP1BB tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:4000028 biolink:NamedThing exposure to freezing air A exposure event involving the interaction of an exposure receptor to frozen of air. tmpak2llvmy_mondo_relaxed.owl exposure to frozen in air owl:Class ECTO:0000980 biolink:NamedThing exposure to temperature of air in surroundings A exposure event involving the interaction of an exposure receptor to temperature of air. tmpak2llvmy_mondo_relaxed.owl temperature of air exposure owl:Class MONDO:0023017 biolink:NamedThing duplication of the thumb unilateral biphalangeal tmpak2llvmy_mondo_relaxed.owl GARD:0001977 https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal owl:Class MONDO:0004816 biolink:NamedThing refractory plasma cell neoplasm A plasma cell neoplasm that is resistant to treatment. tmpak2llvmy_mondo_relaxed.owl refractory plasma cell neoplasm DOID:9544|UMLS:C0278620|NCIT:C7813 owl:Class MONDO:0004111 biolink:NamedThing refractory hematologic cancer A hematologic malignancy that is resistant to treatment. tmpak2llvmy_mondo_relaxed.owl refractory hematologic cancer|refractory hematologic malignancy DOID:712|NCIT:C27357|UMLS:C1335724 owl:Class MONDO:0014668 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene. tmpak2llvmy_mondo_relaxed.owl cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4|COA6 fatal infantile encephalocardiomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in COA6|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4|CEMCOX4 DOID:0080360|UMLS:C4225304|OMIM:616501 owl:Class MONDO:0013606 biolink:NamedThing Hermansky-Pudlak syndrome 9 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. tmpak2llvmy_mondo_relaxed.owl HPS9|Hermansky-Pudlak syndrome 9|Hermansky-Pudlak syndrome type 9|BLOC1S6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6 OMIM:614171|UMLS:C3280026|ICD10:E70.3|Orphanet:280663|DOID:0060547 owl:Class HGNC:3481 biolink:NamedThing ETFA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10778 biolink:NamedThing SFRP4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019319 biolink:NamedThing hexose biosynthetic process The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpak2llvmy_mondo_relaxed.owl hexose biosynthesis|hexose anabolism|hexose synthesis|hexose formation owl:Class MONDO:0400005 biolink:NamedThing refeeding syndrome Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0011360 biolink:NamedThing autosomal recessive nonsyndromic deafness 14 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 14|DFNB14|autosomal recessive deafness 14|deafness, autosomal recessive 14 ICD10:H90.3|DOID:0110469|OMIM:603678|MESH:C566344|UMLS:C1863613 owl:Class HGNC:1092 biolink:NamedThing FOXL2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0020064 biolink:NamedThing Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. tmpak2llvmy_mondo_relaxed.owl 2018-10-17 13:48:52+00:00 robinp human_phenotype owl:Class HP:0032309 biolink:NamedThing Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. tmpak2llvmy_mondo_relaxed.owl 2019-02-14 10:54:57+00:00 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. peter human_phenotype owl:Class UBERON:0004787 biolink:NamedThing urethra urothelium An urothelium that is part of a urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl urethra uroepithelium|uroepithelium of urethra|urothelium of urethra owl:Class HGNC:12009 biolink:NamedThing TPI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0600026 biolink:NamedThing vanishing lung syndrome A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae. tmpak2llvmy_mondo_relaxed.owl VLS|idiopathic giant bullous emphysema http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0003786 biolink:NamedThing childhood testicular choriocarcinoma A choriocarcinoma that arises from the testis during childhood. tmpak2llvmy_mondo_relaxed.owl choriocarcinoma of testis of childhood|childhood choriocarcinoma of testis|childhood choriocarcinoma of the testis|childhood testicular choriocarcinoma|pediatric testicular choriocarcinoma|pediatric choriocarcinoma of testis|pediatric choriocarcinoma of the testis NCIT:C6544|DOID:6160|UMLS:C1333006 owl:Class MONDO:0011925 biolink:NamedThing congenital merosin-deficient muscular dystrophy 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. tmpak2llvmy_mondo_relaxed.owl merosin-deficient congenital muscular dystrophy type 1A|merosin-negative congenital muscular dystrophy|LAMA2 congenital muscular dystrophy|muscular dystrophy, congenital, due to partial LAMA2 deficiency|muscular dystrophy, congenital merosin-deficient|congenital merosin-deficient muscular dystrophy type 1A|LAMA2-related muscular dystrophy|merosin-deficient congenital muscular dystrophy|muscular dystrophy, congenital merosin-deficient, type 1A|MDC1A|congenital muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient, 1A|muscular dystrophy, congenital, merosin-deficient|laminin alpha-2 deficiency|CMD1A|congenital muscular dystrophy caused by mutation in LAMA2|congenital muscular dystrophy due to laminin alpha2 deficiency DOID:0110636|Orphanet:258|SCTID:111503008|OMIM:607855|ICD10:G71.2|UMLS:C1263858|GARD:0003843|NCIT:C118783|EFO:0009138 owl:Class UBERON:0011298 biolink:NamedThing submucosa of uterine tube The submucous layer of the wall of the uterine tube. tmpak2llvmy_mondo_relaxed.owl uterine submucosa|submucosa of fallopian tube|tela submucosa tubae uterinae|submucous layer of uterine tube owl:Class MONDO:0002281 biolink:NamedThing macrocytic anemia Anemia that is characterized by increased red blood cell volume. tmpak2llvmy_mondo_relaxed.owl macrocytic Anemia|anemia macrocytic|D22S676|macrocytic anemia (disease)|D22S750|macrocytic anaemia of unspecified cause|macrocytic anemia|macrocytic anaemia macrocytic anemia (disease) SCTID:83414005|NCIT:C34381|MESH:D000748|HP:0001972|DOID:2361|UMLS:C0002886 owl:Class HP:0001743 biolink:NamedThing Abnormality of the spleen An abnormality of the spleen. tmpak2llvmy_mondo_relaxed.owl Abnormality of the spleen UMLS:C4025749 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. human_phenotype owl:Class MONDO:0003573 biolink:NamedThing pleomorphic carcinoma A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. tmpak2llvmy_mondo_relaxed.owl pleomorphic carcinoma|pleomorphic carcinoma (morphologic abnormality) UMLS:C0334233|NCIT:C4094|ICDO:8022/3|DOID:5662 owl:Class HP:0030014 biolink:NamedThing Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpak2llvmy_mondo_relaxed.owl UMLS:C1112442 human_phenotype owl:Class HP:0030012 biolink:NamedThing Abnormal female reproductive system physiology tmpak2llvmy_mondo_relaxed.owl Abnormal female reproductive system physiology|Abnormal female genital system physiology UMLS:C4022678|UMLS:C4020714 human_phenotype owl:Class MONDO:0009502 biolink:NamedThing pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase E2 deficiency|pyruvate dehydrogenase complex component E2 deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex|PDHDD|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency ICD10:E74.4|Orphanet:79244|MESH:C565448|OMIM:245348|UMLS:C1855565 owl:Class MONDO:0017813 biolink:NamedThing van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. tmpak2llvmy_mondo_relaxed.owl cerebro-facio-articular syndrome of Van Maldergem|Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome|Van Maldergem syndrome OMIMPS:601390|Orphanet:314679|GARD:0005456|DOID:0060238|UMLS:CN203783 owl:Class MONDO:0014922 biolink:NamedThing myofibrillar myopathy 7 Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene. tmpak2llvmy_mondo_relaxed.owl alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myofibrillar myopathy (disease) caused by mutation in KY|MFM7|myopathy, myofibrillar, 7|KY myofibrillar myopathy (disease)|myopathy, myofibrillar, type 7 OMIM:617114|DOID:0080098|UMLS:C4310711 owl:Class MONDO:0019681 biolink:NamedThing juvenile sialidosis type 2 tmpak2llvmy_mondo_relaxed.owl dysmorphic sialidosis, juvenile form ICD10:E77.1|Orphanet:93399|UMLS:CN206605|UMLS:C0268229|SCTID:111383007 owl:Class MONDO:0014293 biolink:NamedThing autosomal dominant nonsyndromic deafness 58 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 58|DFNA58|deafness, autosomal dominant 58|autosomal dominant nonsyndromic deafness type 58 ICD10:H90.3|OMIM:615654|DOID:0110582 owl:Class MONDO:0005643 biolink:NamedThing Alphavirus infectious disease Virus diseases caused by members of the alphavirus genus of the family togaviridae. tmpak2llvmy_mondo_relaxed.owl Alphavirus caused disease or disorder|Alphavirus disease or disorder UMLS:C0206752|EFO:0007142|MESH:D018354 owl:Class MONDO:0012829 biolink:NamedThing inflammatory bowel disease 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3 tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 12|IBD12|inflammatory bowel disease 12 UMLS:C2677105|MESH:C567388|DOID:0110887|OMIM:612241 owl:Class MONDO:0016500 biolink:NamedThing acute sensory ataxic neuropathy Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. tmpak2llvmy_mondo_relaxed.owl ASAN|acute sensory ataxic Guillain-BarrC) syndrome|acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic GBS Orphanet:231466|UMLS:CN201503|SCTID:766049000|ICD10:G61.0 owl:Class NCBITaxon:2732559 biolink:NamedThing Rowavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007214 biolink:NamedThing mesenchyme derived from trunk neural crest Mesenchyme that develops_from a trunk neural crest. tmpak2llvmy_mondo_relaxed.owl trunk neural crest derived mesenchyme|trunk mesenchyme from neural crest owl:Class MONDO:0001529 biolink:NamedThing pancytopenia A finding of low numbers of red and white blood cells and platelets in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl NCIT:C34889|ICD9:284.1|UMLS:C0030312|MESH:D010198|DOID:12450|ICD10:D61.81|ICD9:284.89|SCTID:127034005 owl:Class MONDO:0005688 biolink:NamedThing campylobacteriosis Infections with bacteria of the genus campylobacter. tmpak2llvmy_mondo_relaxed.owl SCTID:86500004|UMLS:C0006818|EFO:0007190|MESH:D002169|DOID:13622 owl:Class MONDO:0013760 biolink:NamedThing congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome tmpak2llvmy_mondo_relaxed.owl ISQMR|ichthyosis, spastic quadriplegia, and intellectual disability|ichthyosis, spastic quadriplegia, and mental retardation|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome Orphanet:352333|OMIM:614457|ICD10:Q80.8|UMLS:C3280856 owl:Class HGNC:28625 biolink:NamedThing NDUFAF6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009087 biolink:NamedThing methionine catabolic process The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpak2llvmy_mondo_relaxed.owl methionine breakdown|methionine degradation|methionine catabolism owl:Class MONDO:0030063 biolink:NamedThing neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES|NEDSHBA|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities OMIM:618922 owl:Class MONDO:0008525 biolink:NamedThing syringomyelia, isolated tmpak2llvmy_mondo_relaxed.owl syringomyelia, isolated|syringomyelia, noncommunicating isolated OMIM:186700|MESH:C566084 owl:Class MONDO:0020508 biolink:NamedThing primary syringomyelia tmpak2llvmy_mondo_relaxed.owl congenital syringomyelia UMLS:C1299627|SCTID:371076006|ICD10:Q06.4|Orphanet:99856 owl:Class HGNC:23657 biolink:NamedThing GNE tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q3 biolink:NamedThing chr13q3 (Human) tmpak2llvmy_mondo_relaxed.owl 114364328 78500000 hg38 owl:Class NCBITaxon:372083 biolink:NamedThing Diphyllobothrium cordatum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012531 biolink:NamedThing xeroderma pigmentosum group B Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. tmpak2llvmy_mondo_relaxed.owl XPBC|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum B/Cockayne syndrome|XP-B|XPB|xeroderma pigmentosum caused by mutation in ERCC3|XP, Group B|xeroderma pigmentosum group type B|XPB/CS|xeroderma pigmentosum, complementation group B|xeroderma pigmentosum, complementation group type B|xeroderma pigmentosum group B|xeroderma pigmentosum, type 2|XP group B DOID:0110850|SCTID:1073003|MESH:C562590|NCIT:C3966|OMIM:610651|Orphanet:276252|UMLS:C0268136|GARD:0005625|ICD10:Q82.1 owl:Class NCBITaxon:7164 biolink:NamedThing Anopheles tmpak2llvmy_mondo_relaxed.owl Anopheles GC_ID:1 ncbi_taxonomy owl:Class HGNC:18514 biolink:NamedThing SPART tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004713 biolink:NamedThing lower gum cancer A cancer involving a gingiva of lower jaw. tmpak2llvmy_mondo_relaxed.owl malignant gingiva of lower jaw neoplasm|gingiva of lower jaw cancer|malignant tumour of lower gum|malignant neoplasm of gingiva of lower jaw|cancer of gingiva of lower jaw|malignant tumor of lower gingiva ICD10:C03.1|DOID:9125|SCTID:363384006|UMLS:C0432581|ICD9:143.1 owl:Class CHEBI:33906 biolink:NamedThing cobalt corrinoid tmpak2llvmy_mondo_relaxed.owl cobalt corrinoids|cobalt-corrinoids owl:Class NCBITaxon:45258 biolink:NamedThing Rickettsia conorii subsp. israelensis tmpak2llvmy_mondo_relaxed.owl Israeli tick typhus rickettsia PMID:15766388|GC_ID:11 NCBITaxon:317864 ncbi_taxonomy owl:Class MONDO:0011205 biolink:NamedThing medium chain 3-ketoacyl-Coa thiolase deficiency tmpak2llvmy_mondo_relaxed.owl medium-chain 3-ketoacyl-coa thiolase deficiency|Mckat deficiency|medium chain 3-ketoacyl-Coa thiolase deficiency UMLS:C1865781|GARD:0010329|OMIM:602199|MESH:C566566 https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency owl:Class UBERON:0004803 biolink:NamedThing penis epithelium An epithelium that is part of a penis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of penis|penis epithelial tissue|epithelial tissue of penis owl:Class MONDO:0004882 biolink:NamedThing angioid streaks of choroid A angioid streaks that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl optic choroid angioid streaks|angioid streaks of optic choroid ICD9:363.43|SCTID:86103006|UMLS:C0002983|DOID:979 owl:Class MONDO:0018416 biolink:NamedThing autosomal recessive spastic paraplegia type 59 tmpak2llvmy_mondo_relaxed.owl SPG59 UMLS:CN226121|Orphanet:401795|ICD10:G11.4 owl:Class MONDO:0019907 biolink:NamedThing ring chromosome 13 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. tmpak2llvmy_mondo_relaxed.owl chromosome 13 ring|Ring chromosome type 13|R13|Ring 13|Ring chromosome 13 syndrome Orphanet:96176|MESH:C538303|ICD10:Q93.2|GARD:0006069|SCTID:726723004 https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 owl:Class MONDO:0003728 biolink:NamedThing breast fibrosarcoma A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma of breast|fibrosarcoma of the breast|breast fibrosarcoma (disease)|breast fibrosarcoma UMLS:C1332630|DOID:6001|NCIT:C5185 owl:Class MONDO:0006567 biolink:NamedThing kernicterus due to isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. tmpak2llvmy_mondo_relaxed.owl kernicterus related to isoimmunization|kernicterus - due to isoimm.|kernicterus due to isoimmunization of fetus or newborn UMLS:C0270204|NCIT:C101270|EFO:1000721|ICD9:773.4|SCTID:359007|DOID:12043|ICD10:P57.0 owl:Class MONDO:0001240 biolink:NamedThing neonatal anemia The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. tmpak2llvmy_mondo_relaxed.owl anemia neonatal SCTID:234350007|MESH:D000751|UMLS:C0002891|DOID:11244 owl:Class NCBITaxon:203692 biolink:NamedThing Spirochaetia tmpak2llvmy_mondo_relaxed.owl Spirochaetes|"Leptospiria" Cavalier-Smith 2020 PMID:11837318|PMID:26654112|PMID:25288668|GC_ID:11 ncbi_taxonomy owl:Class GO:0002313 biolink:NamedThing mature B cell differentiation involved in immune response The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response. tmpak2llvmy_mondo_relaxed.owl mature B-cell differentiation during immune response|mature B cell differentiation during immune response|mature B lymphocyte differentiation during immune response|mature B cell development involved in immune response|mature B-lymphocyte differentiation during immune response owl:Class UBERON:0011273 biolink:NamedThing nail of manual digit 1 A nail that is part of a manual digit 1. tmpak2llvmy_mondo_relaxed.owl thumb nail|nail of thumb|claw of digit 1 of fore-paw|nail of manual digit I|nail plate of thumb owl:Class MONDO:0015832 biolink:NamedThing true unicornuate uterus True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. tmpak2llvmy_mondo_relaxed.owl complete unilateral Mullerian aplasia|complete unilateral aplasia of the Mullerian ducts|unicornuate uterus without rudimentary horn|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Müllerian ducts ICD10:Q51.4|Orphanet:180074 owl:Class MONDO:0015831 biolink:NamedThing unilateral aplasia of the mullerian ducts tmpak2llvmy_mondo_relaxed.owl unilateral aplasia of the Müllerian ducts|unicornuate uterus Orphanet:180071|ICD10:Q51.4 owl:Class MONDO:0006139 biolink:NamedThing cervical metaplasia Metaplastic changes in the cervical glandular or squamous epithelium. tmpak2llvmy_mondo_relaxed.owl EFO:1000168|UMLS:C0281796 owl:Class MONDO:0033004 biolink:NamedThing polycystic kidney disease 4 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. tmpak2llvmy_mondo_relaxed.owl PKD4|polycystic kidney disease 4|polycystic kidney disease 4 with or without polycystic liver disease|PKD3, formerly|PKD3|polycystic kidney and hepatic disease 1|hepatic fibrosis, congenital|polycystic kidney disease, infantile, type 1|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease OMIM:263200|DOID:0080212 owl:Class MONDO:0009038 biolink:NamedThing craniosynostosis-fibular aplasia syndrome Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972. tmpak2llvmy_mondo_relaxed.owl Lowry syndrome|craniosynostosis with fibular aplasia SCTID:732250002|UMLS:C1857492|MESH:C565665|Orphanet:1533|OMIM:218550|ICD10:Q87.2 owl:Class ECTO:3000000 biolink:NamedThing exposure to organism A history of exposure to root. tmpak2llvmy_mondo_relaxed.owl root exposure owl:Class HP:0009810 biolink:NamedThing Abnormality of upper limb joint tmpak2llvmy_mondo_relaxed.owl Abnormality of upper limb joint|Abnormality of the joints of the upper limbs UMLS:C4021387 doelkens 2009-02-23T04:57:56Z human_phenotype owl:Class MONDO:0032586 biolink:NamedThing diarrhea 10, protein-losing enteropathy type tmpak2llvmy_mondo_relaxed.owl DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE|DIAR10 OMIM:618183 owl:Class MONDO:0007461 biolink:NamedThing short stature-valvular heart disease-characteristic facies syndrome Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl disproportionate short stature with ptosis and valvular heart lesions UMLS:C1852073|MESH:C565094|ICD10:Q87.1|Orphanet:2868|OMIM:126190 owl:Class MONDO:0016309 biolink:NamedThing Niemann-Pick disease type C, juvenile neurologic onset tmpak2llvmy_mondo_relaxed.owl Niemann-Pick disease type C, classic form Orphanet:216981|ICD10:E75.2|UMLS:CN201115 owl:Class MONDO:0014133 biolink:NamedThing developmental and epileptic encephalopathy, 16 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 16|DEE16|epileptic encephalopathy, early infantile, 16|EIEE16 DOID:0080449|OMIM:615338|UMLS:C3809173 owl:Class MONDO:0015569 biolink:NamedThing congenital nasal pyriform aperture stenosis with holoprosencephaly tmpak2llvmy_mondo_relaxed.owl apertura pyriformis with holoprosencephaly ICD10:Q30.8|Orphanet:162521 owl:Class CL:0002593 biolink:NamedThing smooth muscle cell of the internal thoracic artery A smooth muscle of the internal thoracic artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:01:41Z cell owl:Class GO:0002577 biolink:NamedThing regulation of antigen processing and presentation Any process that modulates the frequency, rate, or extent of antigen processing and presentation. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0008514 biolink:NamedThing organic anion transmembrane transporter activity Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008266 biolink:NamedThing polydactyly, postaxial, type A1 tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial|postaxial polydactyly, type B|PAPA1|postaxial polydactyly, type A|polydactyly, postaxial, type A1 OMIM:174200 owl:Class MONDO:0009120 biolink:NamedThing diverticulosis of bowel, hernia, and retinal detachment A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. tmpak2llvmy_mondo_relaxed.owl diverticulosis of bowel, hernia, and retinal detachment|Marphanoid syndrome type De Silva|marfanoid syndrome, De Silva type MESH:C565619|OMIM:223330|Orphanet:2464|UMLS:C1857227|GARD:0003401 The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. owl:Class MONDO:0015043 biolink:NamedThing extramedullary soft tissue plasmacytoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN197328|Orphanet:100022|ICD10:C90.2 owl:Class HGNC:3579 biolink:NamedThing FAH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2902 biolink:NamedThing DLG3 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001557 biolink:NamedThing Prenatal movement abnormality An abnormality of fetal movement. tmpak2llvmy_mondo_relaxed.owl Abnormal intrauterine movements UMLS:C1849510 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. HP:0007629 human_phenotype owl:Class MONDO:0001647 biolink:NamedThing benign renovascular hypertension tmpak2llvmy_mondo_relaxed.owl ICD9:405.11|DOID:13145 owl:Class MONDO:0001646 biolink:NamedThing benign secondary hypertension Mild to moderate high blood pressure that is caused by an underlying medical condition. tmpak2llvmy_mondo_relaxed.owl ICD9:405.1|DOID:13143|SCTID:194785008|ICD9:405.19|UMLS:C0155620 owl:Class MONDO:0023054 biolink:NamedThing klumpke's paralysis Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months. tmpak2llvmy_mondo_relaxed.owl Palsy, Dejerine-Klumpke|klumpke-dC)jerine brachial plexus injury|Klumpke paralysis|klumpke's palsy|Klumpke Paralysis|Lower Brachial Plexus Palsy|Klumpkes Palsy|Dejerine-Klumpke palsy|klumpke paralysis|Klumpke's paralysis|klumpke-dC)jerine paralysis|Klumpke's palsy|Paralysis, Klumpke|klumpke-dejerine paralysis|Paralysis of the Lower Brachial Plexus|Klumpke-DC)jerine brachial plexus injury|Klumpke-Dejerine paralysis|Klumpke-DC)jerine paralysis|Palsy, Klumpke's|Klumpke Palsy|Lower brachial plexus palsy|Dejerine-Klumpke Palsy|Klumpke's Palsy|klumpke's paralysis|Dejerine Klumpke Palsy SCTID:83886009|GARD:0003123|UMLS:C0270898|NCIT:C116724 owl:Class GO:0007041 biolink:NamedThing lysosomal transport The directed movement of substances into, out of or within a lysosome. tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C25193 biolink:NamedThing Occupation The principal activity that a person does to earn money. tmpak2llvmy_mondo_relaxed.owl Job|Occupation|OCCUPATION|EMPJOB|Employee Job owl:Class MONDO:0001127 biolink:NamedThing tibialis tendinitis A tendinitis that involves the tibialis. tmpak2llvmy_mondo_relaxed.owl tibialis tendinitis|tendinitis of tibialis UMLS:C0158321|DOID:10810|ICD9:726.72|SCTID:50127006 owl:Class MONDO:0011022 biolink:NamedThing Potocki-Shaffer syndrome Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). tmpak2llvmy_mondo_relaxed.owl proximal 11P deletion syndrome|chromosome 11P11.2 deletion syndrome|deletion of chromosome 11p11.2|proximal 11p deletion syndrome|PSS|Potocki-Shaffer syndrome|11p11.2 deletion|Defect11 syndrome ICD9:758.39|OMIM:601224|DOID:0111687|MESH:C538356|SCTID:702346005|Orphanet:52022|NCIT:C75456|GARD:0009762|UMLS:C1832588|ICD10:Q93.5 owl:Class MONDO:0008612 biolink:NamedThing tuberous sclerosis 1 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). tmpak2llvmy_mondo_relaxed.owl tuberous sclerosis, type 1|tuberous sclerosis 1|tuberous sclerosis Complex|tuberous sclerosis caused by mutation in TSC1|TSC1|tuberose sclerosis|tuberous sclerosis type 1|TSC1 tuberous sclerosis OMIM:191100|GARD:0005380|NCIT:C75122|DOID:0080324 owl:Class MONDO:0001734 biolink:NamedThing tuberous sclerosis Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. tmpak2llvmy_mondo_relaxed.owl cerebral sclerosis|disease, Bourneville-pringle|Bourneville phakomatosis|disease, Bourneville-pringle's|tuberous sclerosis syndrome|tuberose sclerosis|Bourneville-pringle's disease|Bourneville-pringle disease|TSC|syndrome, Bourneville's|tuberous sclerosis Complex|Bourneville disease|Bourneville's syndrome|adenoma sebaceum syndrome|Bourneville syndrome|adenoma sebaceum|sclerosis, tuberose|Bourneville Phacomatosis|cerebral Scleroses|syndrome, Bourneville|sclerosis, tuberous|ts - tuberous sclerosis|tuberous sclerosis|phakomatosis, Bourneville|sclerosis Tuberosa|Bourneville pringle disease|bourneville's disease|Bourneville's disease|Epiloia|Bourneville pringle's disease|Phacomatosis, Bourneville|Bourneville-Pringles disease|sclerosis, cerebral SCTID:7199000|ICD9:759.5|NCIT:C3424|MESH:D014402|ICD10:Q85.1|DOID:13515|OMIMPS:191100 Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome owl:Class MONDO:0004888 biolink:NamedThing partial circumpapillary choroid dystrophy tmpak2llvmy_mondo_relaxed.owl UMLS:C0154895|ICD9:363.51|DOID:9811|SCTID:193466003 owl:Class HP:0000843 biolink:NamedThing Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. tmpak2llvmy_mondo_relaxed.owl Elevated blood parathyroid hormone level UMLS:C0020502|MSH:D006961|SNOMEDCT_US:66999008 human_phenotype owl:Class HGNC:14579 biolink:NamedThing VPS45 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3258 biolink:NamedThing EIF2B2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016377 biolink:NamedThing Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. tmpak2llvmy_mondo_relaxed.owl PTHSL UMLS:CN239445|Orphanet:221150|GARD:0011967 https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome owl:Class CHEBI:67079 biolink:NamedThing anti-inflammatory agent Any compound that has anti-inflammatory effects. tmpak2llvmy_mondo_relaxed.owl anti-inflammatory agents|antiinflammatory agents|antiinflammatory agent owl:Class MONDO:0010201 biolink:NamedThing Winchester syndrome tmpak2llvmy_mondo_relaxed.owl Winchester syndrome|multicentric osteolysis, nodulosis and arthropathy|noa syndrome|WNCHRS|Al-Qeel Sewairi syndrome|nodulosis arthropathy osteolysis syndrome|Winchester-Grossman syndrome|Torg Winchester syndrome OMIM:277950|GARD:0007894|UMLS:CN204453|SCTID:254151006|ICD9:733.29 Editor note: check relationship to parent owl:Class PR:000001022 biolink:NamedThing neural cell adhesion molecule tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0010009 biolink:NamedThing camera-type eye photoreceptor cell tmpak2llvmy_mondo_relaxed.owl camera type eye photoreceptor cell owl:Class NCBITaxon:10375 biolink:NamedThing Lymphocryptovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007585 biolink:NamedThing exostoses, multiple, type 1 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. tmpak2llvmy_mondo_relaxed.owl multiple cartilaginous exostoses|exostoses, multiple, type I|exostoses, multiple caused by mutation in EXT1|osteochondromatosis|EXT1 exostoses, multiple|exostoses, multiple, type 1|diaphyseal Aclasis|multiple osteochondromas|EXT GARD:0002204|OMIM:133700 https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 owl:Class MONDO:0009549 biolink:NamedThing severe early-childhood-onset retinal dystrophy Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. tmpak2llvmy_mondo_relaxed.owl macular dystrophy with flecks, type 1|SECORD|STGD1|early-onset severe retinal dystrophy|EOSRD|fundus flavimaculatus|Stgd|Stargardt disease 1|retinal dystrophy, early-onset severe|macular Degeneration, juvenile|Stargardt disease type 1 Orphanet:364055|OMIM:248200|SCTID:716663009|ICD10:H35.5 owl:Class MONDO:0015299 biolink:NamedThing Asherman syndrome tmpak2llvmy_mondo_relaxed.owl intrauterine adhesions|Asherman syndrome|intrauterine synechiae|uterine synechiae|Asherman's syndrome SCTID:48236007|MedDRA:10053868|UMLS:C0156372|GARD:0005853|ICD10:N85.6|MedDRA:10022821|Orphanet:137686 owl:Class MAXO:0000002 biolink:NamedThing therapeutic procedure All manners of treatment, be they pharmaceuticals, invasive procedures, etc. to relieve illness and injury in attempts to bring the body back to its normal state. tmpak2llvmy_mondo_relaxed.owl medical procedure|treatment|clinical procedure owl:Class MAXO:0000001 biolink:NamedThing medical action A clinically prescribed procedure, therapy, intervention, or recommendation. tmpak2llvmy_mondo_relaxed.owl health care process owl:Class MONDO:0002482 biolink:NamedThing nipple neoplasm A benign or malignant neoplasm that arises in the area of the nipple. tmpak2llvmy_mondo_relaxed.owl neoplasm of nipple|neoplasm of the nipple|nipple tumor|tumor of nipple|tumor of the nipple|nipple neoplasm (disease)|nipple neoplasm UMLS:C1112166|NCIT:C5212|DOID:3003 owl:Class UBERON:0014792 biolink:NamedThing musculature of pelvic complex Any collection of muscles that is part of a pelvic complex. The pelvic complex comprises the pelvic girdle and the associated limb or fin. tmpak2llvmy_mondo_relaxed.owl musculature of lower limb|musculi membri inferioris|muscles of lower limb owl:Class MONDO:0009157 biolink:NamedThing split hand-foot malformation 6 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene. tmpak2llvmy_mondo_relaxed.owl split hand-foot malformation type 6|ectrodactyly, autosomal recessive|split-hand/foot malformation type 6|split hand-foot malformation caused by mutation in WNT10B|WNT10B split hand-foot malformation|SHFM6|split-hand/foot malformation 6 OMIM:225300|DOID:0090026|UMLS:C2749665|MESH:C567616|ICD10:Q71.6 owl:Class OBO:CHR_9606-chr8q21.1 biolink:NamedThing chr8q21.1 (Human) tmpak2llvmy_mondo_relaxed.owl 83500000 72000000 hg38 owl:Class MONDO:0014406 biolink:NamedThing pancreatic agenesis 2 Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene. tmpak2llvmy_mondo_relaxed.owl pancreatic agenesis type 2|PTF1A pancreatic agenesis|pancreatic hypoplasia, congenital 2|pancreatic agenesis caused by mutation in PTF1A|pancreatic agenesis 2|PAGEN2 OMIM:615935|UMLS:C4014737 owl:Class GO:0006142 biolink:NamedThing regulation of pyrimidine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpak2llvmy_mondo_relaxed.owl regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism owl:Class MONDO:0007693 biolink:NamedThing hypertrichosis cubiti-short stature syndrome Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. tmpak2llvmy_mondo_relaxed.owl hairy elbows syndrome|hypertrichosis cubiti|MacDermot-Patton-Williams syndrome|hairy elbows UMLS:C1841696|GARD:0000143|ICD10:Q84.2|OMIM:139600|Orphanet:2220|MESH:C535618|MedDRA:10068636 owl:Class HGNC:6365 biolink:NamedThing KLK4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010541 biolink:NamedThing Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. tmpak2llvmy_mondo_relaxed.owl Scalp furrows|Thickened folds on top of scalp|Scalp folds|Thickening of the scalp|Cutis verticis gyrata|Furrows in thickened skin on top of scalp UMLS:C4280378|UMLS:C4072877|UMLS:C0263417|SNOMEDCT_US:51603000 peter 2009-09-23T10:15:33Z human_phenotype owl:Class MONDO:0030353 biolink:NamedThing Joubert syndrome 38 tmpak2llvmy_mondo_relaxed.owl JBTS38|Joubert syndrome 38 OMIM:619476 owl:Class MONDO:0012542 biolink:NamedThing psoriasis 8, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 8, susceptibility to|PSORS8 DOID:0111288|OMIM:610707 owl:Class MONDO:0002250 biolink:NamedThing basilar artery insufficiency A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. tmpak2llvmy_mondo_relaxed.owl basilar artery syndrome ICD9:435.0|UMLS:C0004812|SCTID:64009001|DOID:223|NCIT:C34413 owl:Class NCBITaxon:72293 biolink:NamedThing Helicobacteraceae tmpak2llvmy_mondo_relaxed.owl Helicobacter group PMID:16403855|GC_ID:11|PMID:29034857 ncbi_taxonomy owl:Class MONDO:0005552 biolink:NamedThing ocular vascular disease A disorder that is caused by pathologic changes in the ocular vasculature. tmpak2llvmy_mondo_relaxed.owl vasculature of eye disease|ocular vascular disorder|disease of vasculature of eye|vasculature of eye disease or disorder|disease or disorder of vasculature of eye|disorder of vasculature of eye EFO:0005753|NCIT:C35664 owl:Class UBERON:0004184 biolink:NamedThing prostate gland stroma The prostate gland stroma is made up of the mesenchymal or fibroblast cells of the prostate gland tmpak2llvmy_mondo_relaxed.owl stroma of prostate gland|prostate stroma|prostatic stroma|stroma of prostate|stroma of glandular part of prostate owl:Class UBERON:0034986 biolink:NamedThing sacral nerve plexus A nerve plexus which provides motor and sensory nerves for the posterior thigh, most of the lower leg, the entire foot, and part of the pelvis. tmpak2llvmy_mondo_relaxed.owl sacral plexus|plexus sacralis owl:Class GO:0042401 biolink:NamedThing cellular biogenic amine biosynthetic process The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpak2llvmy_mondo_relaxed.owl biogenic amine formation|biogenic amine synthesis|biogenic amine biosynthesis|biogenic amine anabolism owl:Class GO:0006576 biolink:NamedThing cellular biogenic amine metabolic process The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpak2llvmy_mondo_relaxed.owl biogenic amine metabolism owl:Class MONDO:0006068 biolink:NamedThing ACTH-producing pituitary gland adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. tmpak2llvmy_mondo_relaxed.owl adrenocorticotropin producing adenoma of the pituitary|pituitary gland ACTH-secreting adenoma|adrenocorticotropin producing adenoma of pituitary|corticotropin secreting pituitary gland adenoma|ACTH-secreting adenoma of pituitary|adrenocorticotropin producing pituitary adenoma|adrenocorticotropin producing adenoma of the pituitary gland|pituitary ACTH secreting adenoma|ACTH secreting adenoma of the pituitary|ACTH-secreting adenoma of pituitary gland|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH-producing pituitary gland adenoma|adrenocorticotropin secreting adenoma of the pituitary|pituitary ACTH-secreting adenoma|ACTH-secreting adenoma of the pituitary|corticotroph adenoma|adrenocorticotropin secreting pituitary adenoma|corticotropic adenoma|adrenocorticotropin producing adenoma of pituitary gland|adrenocorticotropin producing pituitary gland adenoma|corticotropin secreting adenoma of the pituitary|pituitary corticotropin secreting adenoma|adrenocorticotropin secreting pituitary gland adenoma|ACTH secreting adenoma of pituitary|adrenocorticotropin secreting adenoma of pituitary|ACTH-producing pituitary adenoma|ACTHoma|ACTH producing pituitary gland adenoma|Corticotropinoma|ACTH-secreting adenoma of the pituitary gland|adrenocorticotropin secreting adenoma of pituitary gland NCIT:C7462|EFO:1000066 owl:Class MONDO:0007050 biolink:NamedThing acromegaloid changes, cutis verticis gyrata, and corneal leukoma tmpak2llvmy_mondo_relaxed.owl acromegaloid changes, cutis verticis gyrata and corneal leukoma|acromegaloid changes, cutis verticis gyrata, and corneal leukoma|acromegaly-cutis verticis gyrata-corneal leukoma syndrome|Rosenthal-Kloepfer syndrome UMLS:CN225973|OMIM:102100|MESH:C535654|Orphanet:964|GARD:0000500 https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma owl:Class HP:0410243 biolink:NamedThing Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. tmpak2llvmy_mondo_relaxed.owl Abnormal IgM level in blood 2018-10-12 20:32:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0006793 biolink:NamedThing hyperpituitarism Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. tmpak2llvmy_mondo_relaxed.owl MESH:D006964|EFO:1000973|MedDRA:10020716|SCTID:10649000|UMLS:C0020506|DOID:2444|ICD9:253.1 owl:Class MONDO:0001488 biolink:NamedThing anterior corneal pigmentation tmpak2llvmy_mondo_relaxed.owl anterior corneal pigmentations UMLS:C0155104|SCTID:18377001|DOID:12307|ICD10:H18.01|ICD9:371.11 owl:Class MONDO:0020638 biolink:NamedThing superficial spreading melanoma A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. tmpak2llvmy_mondo_relaxed.owl superficial spreading melanoma of skin|superficial spreading melanoma|cutaneous superficial spreading melanoma|superficial spreading melanoma of the skin|pagetoid melanoma|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant melanoma of the skin|superficial spreading malignant melanoma of skin|superficial spreading malignant skin melanoma|SSM SCTID:254730000|ICDO:8743/3|NCIT:C9152 owl:Class HGNC:6182 biolink:NamedThing ITPR3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002707 biolink:NamedThing negative regulation of lymphocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. tmpak2llvmy_mondo_relaxed.owl inhibition of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|downregulation of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity owl:Class MONDO:0030998 biolink:NamedThing deafness, autosomal dominant 80 tmpak2llvmy_mondo_relaxed.owl DFNA80|deafness, autosomal dominant 80 OMIM:619274 owl:Class GO:0015144 biolink:NamedThing carbohydrate transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl carbohydrate transporter activity|sugar transporter owl:Class MONDO:0010829 biolink:NamedThing CARASIL syndrome CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. tmpak2llvmy_mondo_relaxed.owl Maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|CARASIL|subcortical vascular encephalopathy, progressive|cerebrovascular disease with thin skin, alopecia, and disc disease MESH:C563990|OMIM:600142|SCTID:703219008|GARD:0010424|UMLS:C1838577|Orphanet:199354|ICD10:F01.1 owl:Class HGNC:17228 biolink:NamedThing RAD54B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015347 biolink:NamedThing multicentric reticulohistiocytosis Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. tmpak2llvmy_mondo_relaxed.owl multicentric reticulohistiocytosis|lipoid dermatoarthritis|giant cell histiocytomatosis ICD10:D76.3|ICD9:272.8|GARD:0007103|ICD9:713.0|UMLS:C0311284|ICD10:E78.81|Orphanet:139436|SCTID:84241008|NCIT:C27896|DOID:11824|MedDRA:10070595 https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis owl:Class MONDO:0032898 biolink:NamedThing spermatogenic failure 43 tmpak2llvmy_mondo_relaxed.owl SPERMATOGENIC FAILURE 43|SPGF43 OMIM:618751 owl:Class MONDO:0006941 biolink:NamedThing rat-bite fever An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. tmpak2llvmy_mondo_relaxed.owl rat bite fever|spirillosis|Streptobacillosis EFO:1001144|MedDRA:10037904|ICD10:A25.9|ICD9:026.9|Orphanet:31205|ICD10:A25.1|UMLS:C0034686|GARD:0009557|MESH:D011906|ICD10:A25.0|SCTID:1685005|NCIT:C34971 https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever owl:Class GO:0051954 biolink:NamedThing positive regulation of amine transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl up regulation of amine transport|up-regulation of amine transport|stimulation of amine transport|activation of amine transport|upregulation of amine transport owl:Class MONDO:0018809 biolink:NamedThing idiopathic peliosis hepatis tmpak2llvmy_mondo_relaxed.owl idiopathic peliosis hepatitis Orphanet:480524 owl:Class MONDO:0100071 biolink:NamedThing cardiocutaneous syndrome Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. tmpak2llvmy_mondo_relaxed.owl 2019-01-18 17:28:41+00:00 owl:Class NCBITaxon:1658400 biolink:NamedThing Hectopsyllidae tmpak2llvmy_mondo_relaxed.owl Tunginae|Tungidae GC_ID:1 NCBITaxon:163162 ncbi_taxonomy owl:Class MONDO:0027069 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 tmpak2llvmy_mondo_relaxed.owl MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1 OMIM:500015|DOID:0111748 owl:Class MONDO:0010944 biolink:NamedThing mitochondrial import-stimulating factor tmpak2llvmy_mondo_relaxed.owl mitochondrial import-stimulating factor|MSF OMIM:600851 owl:Class MONDO:0016892 biolink:NamedThing partial deletion of the short arm of chromosome 10 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 10p|partial monosomy of the short arm of chromosome 10|partial deletion of chromosome 10p|partial deletion of the short arm of chromosome type 10 Orphanet:261938|UMLS:C0795836|ICD10:Q93.5 owl:Class MONDO:0015867 biolink:NamedThing vaginal carcinoma A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl vaginal cancer, NOS|carcinoma of vagina|vaginal carcinoma|cancer of vagina|vaginal cancer|vaginal malignant epithelial tumor|vagina cancer|carcinoma of the vagina|cancer of the vagina|vagina carcinoma DOID:0050918|NCIT:C3917|UMLS:C0262659|ICD10:C52|Orphanet:180247 owl:Class MONDO:0013260 biolink:NamedThing esophagitis, eosinophilic, 2 tmpak2llvmy_mondo_relaxed.owl esophagitis, eosinophilic, 2|EOE2 UMLS:C3150679|OMIM:613412 owl:Class GO:0009713 biolink:NamedThing catechol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. tmpak2llvmy_mondo_relaxed.owl catechol biosynthesis|catechol synthesis|catechol biosynthetic process|catechol formation|catechol anabolism owl:Class MONDO:0005257 biolink:NamedThing advanced heart failure Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients. tmpak2llvmy_mondo_relaxed.owl Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003149 owl:Class MONDO:0005254 biolink:NamedThing symptomatic heart failure A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc tmpak2llvmy_mondo_relaxed.owl EFO:0003146 owl:Class UBERON:0006909 biolink:NamedThing lumen of digestive tract An anatomical space that surrounded_by a digestive tract. tmpak2llvmy_mondo_relaxed.owl gut lumen|lumen of digestive tract|gut cavity|digestive tract lumen|lumen of gut|lumen of alimentary tract owl:Class UBERON:0004236 biolink:NamedThing arteriole smooth muscle A portion of smooth muscle tissue that is part of an arteriole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11557 biolink:NamedThing TAL2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3482 biolink:NamedThing ETFB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010634 biolink:NamedThing jaundice, familial obstructive, of infancy tmpak2llvmy_mondo_relaxed.owl jaundice, familial obstructive, of infancy OMIM:308600|UMLS:C1839927|MESH:C564118 owl:Class SO:1000002 biolink:NamedThing substitution A sequence alteration where the length of the change in the variant is the same as that of the reference. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002299 biolink:NamedThing glomangioma A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. tmpak2llvmy_mondo_relaxed.owl glomangioma NCIT:C4222|UMLS:C0334421|DOID:2436|ICDO:8712/0 owl:Class HGNC:22965 biolink:NamedThing PEX26 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003701 biolink:NamedThing calcaneal tendon The Achilles tendon is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone. tmpak2llvmy_mondo_relaxed.owl tendo calcaneus|tendo Achillis|Achilles tendon|Achilles' tendon|Achille's tendon|calcaneal tendon owl:Class HGNC:26034 biolink:NamedThing SDHAF2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15924 biolink:NamedThing SALL4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19073 biolink:NamedThing THOC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005953 biolink:NamedThing scirrhous adenocarcinoma An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. tmpak2llvmy_mondo_relaxed.owl scirrhous carcinoma|scirrhous adenocarcinoma (morphologic abnormality)|adenocarcinoma with productive fibrosis|FIBROADENOCARCINOMA, malignant|scirrhous adenocarcinoma|fibrocarcinoma EFO:0007478|DOID:4024|MESH:D002293|UMLS:C0007135|ICDO:8141/3|NCIT:C2928 owl:Class MONDO:0023561 biolink:NamedThing Koone-Rizzo-Elias syndrome tmpak2llvmy_mondo_relaxed.owl Koone Rizzo Elias syndrome|ichthyosis, mental retardation and asymptomatic spasticity|ichthyosis, intellectual disability and asymptomatic spasticity GARD:0003131|UMLS:C2931397|MESH:C537023 https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome owl:Class MONDO:0019269 biolink:NamedThing ichthyosis Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. tmpak2llvmy_mondo_relaxed.owl fish scale disease|fish skin disease|ichthyoses|ichthyosis (disease)|non-syndromic ichthyosis|ichthyosis ichthyosis (disease) MedDRA:10021198|Orphanet:79354|HP:0008064|MESH:D007057|NCIT:C84776|DOID:1697|UMLS:C0020757 Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. https://github.com/monarch-initiative/mondo/pull/2110 owl:Class MONDO:0021653 biolink:NamedThing cutaneous focal mucinosis tmpak2llvmy_mondo_relaxed.owl focal mucinoses|focal mucinosis UMLS:C0406659|ICD9:701.8|SCTID:110981005 owl:Class MONDO:0009440 biolink:NamedThing ichthyosiform erythroderma, corneal involvement, and deafness tmpak2llvmy_mondo_relaxed.owl keratitis-ichthyosis-deafness syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, and deafness|Desmons syndrome|ichthyosiform erythroderma, corneal involvement, deafness|Kid syndrome, autosomal recessive UMLS:C1275089|OMIM:242150|SCTID:403780007|MESH:C537363|GARD:0002946 owl:Class UBERON:0003333 biolink:NamedThing submucosa of jejunum A submucosa that is part of a jejunum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl jejunal submucosa|jejunum submucosa owl:Class HGNC:4115 biolink:NamedThing GALC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016675 biolink:NamedThing distal arthrogryposis type 10 tmpak2llvmy_mondo_relaxed.owl short tendo calcaneus|distal arthrogryposis type 10|plantar flexion contracture|tendo calcaneus, short|short Achilles tendon|congenital plantar contractures|DA10|arthrogryposis, distal, type 10 UMLS:C1861238|DOID:0111593|ICD10:Q68.8|OMIM:187370|MESH:C566069|SCTID:275336002|Orphanet:251515 owl:Class HP:0001321 biolink:NamedThing Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. tmpak2llvmy_mondo_relaxed.owl Hypoplastic cerebellum|Underdeveloped cerebellum|Small cerebellum|Congenital cerebellar hypoplasia|Hypoplasia of cerebellum MSH:C562568|UMLS:C0266470|SNOMEDCT_US:16026008 By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. HP:0007053|HP:0007038|HP:0006806|HP:0006910 human_phenotype owl:Class MONDO:0006159 biolink:NamedThing colorectal gastrointestinal stromal tumor A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl colorectal gist|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor NCIT:C27735|EFO:1000192|UMLS:C1333109 owl:Class GO:1903942 biolink:NamedThing positive regulation of respiratory gaseous exchange Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. tmpak2llvmy_mondo_relaxed.owl activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange owl:Class MONDO:0008765 biolink:NamedThing Leber congenital amaurosis 2 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. tmpak2llvmy_mondo_relaxed.owl amaurosis congenita of Leber, type 2|Leber congenital amaurosis caused by mutation in RPE65|LCA2|Leber congenital amaurosis 2|Leber congenital amaurosis type 2|amaurosis congenita of Leber II|amaurosis congenita of Leber 2|RPE65 Leber congenital amaurosis UMLS:C1859844|GARD:0000636|MESH:C536601|OMIM:204100|ICD10:H35.5|DOID:0110016 https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2 owl:Class MONDO:0007483 biolink:NamedThing dyschromatosis symmetrica hereditaria Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. tmpak2llvmy_mondo_relaxed.owl RAD|dyschromatosis symmetrica hereditaria|dyschromatosis symmetrica hereditaria 1|acropigmentation of Dohi|DSH1|DSH|familial reticulate acropigmentation of Dohi|symmetric dyschromatosis of the extremities|reticulate acropigmentation of Dohi OMIM:127400|EFO:0008878|MESH:C535729|NCIT:C118435|ICD10:L81.8|SCTID:239085000|GARD:0000334|Orphanet:41|DOID:0060257|UMLS:C0406775 owl:Class MONDO:0002626 biolink:NamedThing spinal accessory nerve neoplasm A neoplasm involving a accessory XI nerve spinal component. tmpak2llvmy_mondo_relaxed.owl eleventh cranial nerve neoplasm|eleventh cranial nerve neoplasms|spinal accessory nerve tumor|accessory XI nerve spinal component tumor|neoplasm of accessory XI nerve spinal component|spinal accessory nerve tumors|neoplasm of spinal accessory nerve|eleventh cranial nerve tumors|accessory nerve neoplasm|accessory XI nerve spinal component neoplasm (disease)|tumor of the eleventh cranial nerve|eleventh cranial nerve tumor|tumor of accessory XI nerve spinal component|tumor of eleventh cranial nerve|tumor of spinal accessory nerve|neoplasm of eleventh cranial nerve|accessory XI nerve spinal component neoplasm|spinal accessory nerve neoplasms|neoplasm of accessory nerve|neoplasm of the eleventh cranial nerve|XIth cranial nerve tumors|neoplasm of the spinal accessory nerve|XIth cranial nerve neoplasms|tumor of the spinal accessory nerve|spinal accessory nerve neoplasm UMLS:C1263902|DOID:337|NCIT:C5829|ICD9:239.7|SCTID:126977003 owl:Class MONDO:0002074 biolink:NamedThing Behcet syndrome arthropathy Arthropathy resulting from Behcet's syndrome. tmpak2llvmy_mondo_relaxed.owl arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving upper arm|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving shoulder region|arthropathy in Behcet's syndrome involving hand|Behcet's syndrome arthropathy|arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving multiple sites|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving ankle and foot|arthropathy in Behcet's syndrome involving lower leg ICD9:711.20|SCTID:62918002|NCIT:C35225|ICD9:711.2|ICD9:711.23|UMLS:C0157770|ICD9:711.26|ICD9:711.28|DOID:1670 owl:Class MONDO:0022022 biolink:NamedThing bowenoid papulosis Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported. tmpak2llvmy_mondo_relaxed.owl bowenoid papulosis|Bowenoid papulosis|BP NCIT:C8374|SCTID:402913004|GARD:0005951|UMLS:C0334106|ICD9:447.8 https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis owl:Class ECTO:9001702 biolink:NamedThing exposure to macronutrient An exposure to macronutrient. tmpak2llvmy_mondo_relaxed.owl exposure to macronutrient owl:Class CHEBI:33432 biolink:NamedThing monoatomic chlorine tmpak2llvmy_mondo_relaxed.owl atomic chlorine owl:Class MONDO:0004196 biolink:NamedThing rectal sarcomatoid carcinoma A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. tmpak2llvmy_mondo_relaxed.owl rectal sarcomatoid carcinoma|sarcomatoid carcinoma of the rectum|rectal sarcomatoid cancer|rectum sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|rectal spindle cell carcinoma DOID:7356|NCIT:C5556|UMLS:C1335689 owl:Class MONDO:0021279 biolink:NamedThing mucoepidermoid carcinoma of submandibular gland A mucoepidermoid carcinoma that involves the submandibular gland. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the submandibular gland|submandibular gland mucoepidermoid carcinoma SCTID:423424005|NCIT:C5939|UMLS:C1336524 owl:Class MONDO:0005838 biolink:NamedThing mansonelliasis A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. tmpak2llvmy_mondo_relaxed.owl Mansonella perstans infections|Mansonellosis Orphanet:2459|NCIT:C84882|EFO:0007357|GARD:0008216|MESH:D008368|UMLS:C0024759|DOID:1081|ICD10:B74.4|SCTID:240849009 https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis owl:Class UBERON:0005867 biolink:NamedThing mandibular prominence the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip tmpak2llvmy_mondo_relaxed.owl mandibular process|mandibular swelling|prominentia mandibularis owl:Class MONDO:0017747 biolink:NamedThing disorder of fucoglycosan synthesis tmpak2llvmy_mondo_relaxed.owl Orphanet:309505|ICD10:E77.8|UMLS:CN227193 owl:Class MONDO:0017252 biolink:NamedThing congenital pulmonary airway malformation type 4 tmpak2llvmy_mondo_relaxed.owl congenital cystic adenomatoid malformation of the lung type 4|CPAM type 4|congenital cystic adenomatous malformation of the lung type 4 Orphanet:280854|ICD10:Q33.0 owl:Class MONDO:0045059 biolink:NamedThing cribriform carcinoma of breast tmpak2llvmy_mondo_relaxed.owl ductal carcinoma, cribriform type|cribriform carcinoma DOID:5675 owl:Class GO:0060785 biolink:NamedThing regulation of apoptosis involved in tissue homeostasis Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012081 biolink:NamedThing 15q11q13 microduplication syndrome The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. tmpak2llvmy_mondo_relaxed.owl trisomy 15q11-q13|15q11q13 duplication syndrome|chromosome 15Q11.2 Duplication syndrome|Duplication 15Q11-q13 syndrome|autism, susceptibility to, 4|chromosome 15q11-q13 DUPLICATION syndrome|15q11-q13 microduplication syndrome|dup(15)(q11q13)|15q11-q13 duplication syndrome|trisomy 15q11q13 ICD10:Q92.3|UMLS:C4304726|NCIT:C126692|Orphanet:238446|UMLS:C2675336|SCTID:719427001|OMIM:608636 owl:Class MONDO:0006133 biolink:NamedThing cervical adenoid cystic carcinoma A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present. tmpak2llvmy_mondo_relaxed.owl cervical adenoid cystic cancer|adenoid cystic carcinoma of uterine cervix|cervical adenoid cystic carcinoma|adenoid cystic carcinoma of the uterine cervix|cervix uteri adenoid cystic carcinoma|adenoid cystic carcinoma of cervix|adenoid cystic carcinoma of the cervix uteri|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of the cervix|uterine cervix adenoid cystic carcinoma|adenoid cystic carcinoma of cervix uteri UMLS:C1332911|NCIT:C6346|ONCOTREE:CACC|EFO:1000161|DOID:4867 owl:Class MONDO:0016286 biolink:NamedThing adenoid cystic carcinoma of the cervix uteri A adenoid cystic carcinoma that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl uterine cervix adenoid cystic carcinoma|cervical adenoid cystic carcinoma ICD10:C53.0|Orphanet:213823|ICD10:C53.8|ICD10:C53.1 owl:Class ENVO:01000324 biolink:NamedThing planetary surface A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000355 biolink:NamedThing multi-potent skeletal muscle stem cell A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell. tmpak2llvmy_mondo_relaxed.owl FMA:86767 Multi-potency demonstrated ex vivo. At the time of writing, it is unclear whether the endogenous population differentiates into multiple cell types in vivo. cell owl:Class MONDO:0011871 biolink:NamedThing Niemann-Pick disease type B Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea tmpak2llvmy_mondo_relaxed.owl Niemann Pick disease type B|Niemann-Pick disease, type F|type B Niemann-Pick disease|Niemann-PICK disease, type B|Niemann-Pick disease, type E|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression OMIM:607616|SCTID:39390005|UMLS:C0268243|GARD:0010729|ICD10:E75.2|DOID:0070112|NCIT:C126866|Orphanet:77293|MESH:D052537|ICD10:E75.241 https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b owl:Class HGNC:5541 biolink:NamedThing IGHM tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035592 biolink:NamedThing establishment of protein localization to extracellular region The directed movement of a protein to a specific location within the extracellular region. tmpak2llvmy_mondo_relaxed.owl establishment of protein localization in extracellular region|establishment of protein localisation in extracellular region owl:Class MONDO:0005201 biolink:NamedThing restrictive cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. tmpak2llvmy_mondo_relaxed.owl restrictive cardiomyopathy|cardiomyopathy, constrictive|familial restrictive cardiomyopathy|primary restrictive cardiomyopathy EFO:0002630|NCIT:C62798|ICD9:425.4|MESH:D002313|Orphanet:217632|DOID:397|ICD10:I42.5|SCTID:415295002|UMLS:C0007196|MedDRA:10038748 owl:Class MONDO:0009891 biolink:NamedThing acquired polycythemia vera Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. tmpak2llvmy_mondo_relaxed.owl polycythemia rubra vera|Vaquez disease|proliferative polycythaemia|polycythemia vera|PV|polycythaemia rubra vera|PRV|acquired primary erythrocytosis|primary polycythemia|Osler-Vaquez disease|Osler-Vaquez syndrome ICDO:9950/3|MedDRA:10036057|MESH:D011087|ONCOTREE:PV|ICD9:238.4|GARD:0007422|UMLS:C0032463|EFO:0002429|OMIM:263300|Orphanet:729|ICD10:D45|NCIT:C3336|DOID:8997 owl:Class MONDO:0001115 biolink:NamedThing familial polycythemia Polycythemia that occurs in groups of related individuals. tmpak2llvmy_mondo_relaxed.owl hereditary polycythemia (disease)|primary polycythemia|erythrocytosis, familial|familial polycythemia NCIT:C26955|ICD9:289.6|OMIMPS:133100|DOID:10780|ICD10:D75.0 owl:Class UBERON:0009030 biolink:NamedThing left pulmonary vein Vein that drains left lung and returns blood to the heart. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024543 biolink:NamedThing brittle cornea syndrome 1 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, type Vib, formerly|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|brittle cornea syndrome caused by mutation in ZNF469|brittle cornea syndrome 1|BCS1|Fragilitas oculi with Joint hyperextensibility|dysgenesis Mesodermalis corneae Et sclerae|ZNF469 brittle cornea syndrome OMIM:229200|SCTID:31798004 owl:Class GO:0045721 biolink:NamedThing negative regulation of gluconeogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. tmpak2llvmy_mondo_relaxed.owl inhibition of gluconeogenesis|down regulation of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis owl:Class NCBITaxon:772 biolink:NamedThing Bartonellaceae tmpak2llvmy_mondo_relaxed.owl Bartonella group GC_ID:11|PMID:8240958 ncbi_taxonomy owl:Class MONDO:0003891 biolink:NamedThing bladder signet ring cell adenocarcinoma A signet ring cell carcinoma that involves the urinary bladder. tmpak2llvmy_mondo_relaxed.owl urinary bladder signet Ring adenocarcinoma|urinary bladder signet ring cell carcinoma|signet Ring cell adenocarcinoma of the urinary bladder|bladder signet ring cell adenocarcinoma|signet Ring cell adenocarcinoma of urinary bladder|signet Ring cell adenocarcinoma of the bladder|signet ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of bladder NCIT:C6163|DOID:6481|UMLS:C1332563 owl:Class MONDO:0002680 biolink:NamedThing chronic wasting disease A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions). tmpak2llvmy_mondo_relaxed.owl MESH:D034081|UMLS:C1135993|DOID:3530 owl:Class MONDO:0003092 biolink:NamedThing lacrimal gland mucoepidermoid carcinoma An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the lacrimal gland|mucoepidermoid carcinoma of lacrimal gland|lacrimal gland mucoepidermoid carcinoma UMLS:C1334359|NCIT:C6091|DOID:4685 owl:Class UBERON:0004805 biolink:NamedThing seminal vesicle epithelium An epithelium that is part of a seminal vesicle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelium of seminal vesicle|epithelium of seminal gland|epithelial tissue of seminal vesicle|seminal gland epithelial tissue|seminal vesicle epithelial tissue|epithelial tissue of seminal gland|seminal gland epithelium owl:Class MONDO:0004427 biolink:NamedThing supraglottis neoplasm A benign or malignant neoplasm that affects the supraglottic area of the larynx. tmpak2llvmy_mondo_relaxed.owl tumor of supraglottis|supraglottic part of larynx neoplasm (disease)|neoplasm of the supraglottis|supraglottic part of larynx neoplasm|neoplasm of supraglottis|supraglottic part of larynx tumor|supraglottis tumor|tumor of the supraglottis|supraglottic neoplasm|supraglottis neoplasm|neoplasm of supraglottic part of larynx|tumor of supraglottic part of larynx|supraglottic tumor DOID:8002|SCTID:126697005|NCIT:C6793|UMLS:C0345726 owl:Class MONDO:0007176 biolink:NamedThing helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. tmpak2llvmy_mondo_relaxed.owl atrophia areata|SVEINSSON chorioretinal atrophy|Sveinsson chorioretinal atrophy|helicoidal peripapillary chorioretinal Degeneration|SCRA|peripapillary chorioretinal Degeneration, Icelandic type UMLS:C1862382|DOID:0111228|ICD10:H31.2|SCTID:724384008|MESH:C566236|Orphanet:86813|OMIM:108985 owl:Class MONDO:0003745 biolink:NamedThing choroid spindle cell melanoma A spindle cell melanoma that involves the optic choroid. tmpak2llvmy_mondo_relaxed.owl optic choroid spindle cell melanoma|spindle cell melanoma of optic choroid|spindle cell melanoma of the choroid|spindle cell melanoma of choroid NCIT:C6099|UMLS:C1333027|DOID:6041 owl:Class NCBITaxon:5738 biolink:NamedThing Diplomonadida tmpak2llvmy_mondo_relaxed.owl diplomonads GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016004 biolink:NamedThing aminopterin/methotrexate embryofetopathy Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. tmpak2llvmy_mondo_relaxed.owl fetal methotrexate syndrome|aminopterin syndrome|aminopterin embryopathy syndrome|fetal aminopterin syndrome|aminopterin fetopathy syndrome UMLS:C0432367|SCTID:65986000|NCIT:C98928|Orphanet:1908|MedDRA:10071183|GARD:0002294|ICD9:759.89|ICD10:Q86.8 owl:Class GO:0099055 biolink:NamedThing integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10263 biolink:NamedThing RP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007009 biolink:NamedThing ureterolithiasis The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. tmpak2llvmy_mondo_relaxed.owl ureteric calculus|calculus of ureter|ureteric stone MESH:D053039|NCIT:C114696|SCTID:31054009|DOID:14146|EFO:1001228|ICD9:592.1|UMLS:C0041952 owl:Class CL:1000547 biolink:NamedThing kidney inner medulla collecting duct epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001061 cell owl:Class HGNC:19439 biolink:NamedThing KCNK18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010484 biolink:NamedThing deafness, X-linked 6 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. tmpak2llvmy_mondo_relaxed.owl X-linked nonsyndromic deafness caused by mutation in COL4A6|DFNX6|COL4A6 X-linked nonsyndromic deafness|deafness, X-linked type 6|deafness, X-linked 6 UMLS:C3806737|DOID:0111740|OMIM:300914 owl:Class UBERON:0005656 biolink:NamedThing lens vesicle epithelium An epithelium that is part of a lens vesicle. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004274 biolink:NamedThing lateral ventricle choroid plexus epithelium A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lateral ventricle epithelium of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere of lateral ventricle|chorioid plexus of cerebral hemisphere epithelium of lateral ventricle|lateral ventricle choroid plexus epithelial tissue|choroid plexus epithelial tissue of lateral ventricle|epithelial tissue of choroid plexus of lateral ventricle|epithelium of chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus epithelium of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelium|lateral ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelium of choroid plexus of lateral ventricle|lateral ventricle epithelial tissue of choroid plexus|lateral ventricle epithelial tissue of chorioid plexus of cerebral hemisphere owl:Class MONDO:0001063 biolink:NamedThing cardia cancer A malignant neoplasm involving the cardia of stomach. tmpak2llvmy_mondo_relaxed.owl malignant cardia of stomach neoplasm|malignant neoplasm of cardia of stomach|Ca cardia - stomach|cancer of cardia of stomach|cardia of stomach cancer SCTID:187732006|UMLS:C0153417|ICD9:151.0|ICD10:C16.0|DOID:10548 owl:Class MONDO:0020772 biolink:NamedThing epilepsy, juvenile absence, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1|JAE1|EJA1 OMIM:607631|DOID:0111324 owl:Class GO:0071944 biolink:NamedThing cell periphery The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004406 biolink:NamedThing distal epiphysis of femur A distal epiphysis that is part of a femur [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal femoral epiphysis|distal head of femur owl:Class HGNC:932 biolink:NamedThing BAAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007115 biolink:NamedThing angioma serpiginosum, autosomal dominant tmpak2llvmy_mondo_relaxed.owl autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant MESH:C536365|OMIM:106050|GARD:0010189|UMLS:C1970130 https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant owl:Class MONDO:0014491 biolink:NamedThing immunodeficiency 37 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. tmpak2llvmy_mondo_relaxed.owl BCL10 primary immunodeficiency disease|immunodeficiency 37|primary immunodeficiency disease caused by mutation in BCL10|IMD37|immunodeficiency type 37 UMLS:C4015195|OMIM:616098 owl:Class MONDO:0013306 biolink:NamedThing combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. tmpak2llvmy_mondo_relaxed.owl severe C12ORF65-related COXPD|severe C12ORF65-related combined oxidative phosphorylation defect|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|C12ORF65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|combined oxidative phosphorylation deficiency type 7|COXPD7|combined oxidative phosphorylation deficiency 7|C12orf65 combined oxidative phosphorylation deficiency ICD10:G31.8|SCTID:763204003|DOID:0111487|UMLS:C3150801|Orphanet:254930|OMIM:613559 owl:Class MONDO:0016213 biolink:NamedThing leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226881|ICD10:Q82.8|Orphanet:210133 owl:Class MONDO:0054849 biolink:NamedThing inflammatory bowel disease 29 tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 29|IBD29 OMIM:618077 owl:Class MONDO:0010668 biolink:NamedThing skeletal dysplasia-intellectual disability syndrome Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. tmpak2llvmy_mondo_relaxed.owl mental retardation skeletal dysplasia abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|Christian syndrome|intellectual disability, skeletal dysplasia, and abducens palsy|intellectual disability skeletal dysplasia abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|MRSD MESH:C564101|Orphanet:1436|OMIM:309620|SCTID:722478008|UMLS:C1839729|ICD10:Q87.5|GARD:0003520 https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy owl:Class MONDO:0045060 biolink:NamedThing intraductal cribriform breast adenocarcinoma A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern. tmpak2llvmy_mondo_relaxed.owl non-invasive cribriform ductal breast carcinoma|cribriform ductal carcinoma in situ of breast|intraductal cribriform breast adenocarcinoma|cribriform DCIS of the breast|ductal carcinoma in situ of breast with cribriform pattern|ductal carcinoma in situ of the breast with cribriform pattern|cribriform DCIS of breast|non-infiltrating cribriform ductal breast carcinoma|DCIS of breast with cribriform pattern|cribriform ductal carcinoma in situ of the breast|cribriform ductal breast carcinoma in situ|DCIS of the breast with cribriform pattern UMLS:C1334248|NCIT:C5138|ICDO:8201/2 owl:Class CL:0002045 biolink:NamedThing Fraction A pre-pro B cell A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive. tmpak2llvmy_mondo_relaxed.owl pre pro B cell|fraction A Markers associated with mouse cells. tmeehan 2010-04-28T10:50:07Z cell owl:Class CL:0000826 biolink:NamedThing pro-B cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. tmpak2llvmy_mondo_relaxed.owl progenitor B-cell|pro-B lymphocyte|pro-B-lymphocyte|progenitor B lymphocyte|pre-B cell (Philadelphia nomenclature)|progenitor B cell|pre-pro B cell|pro-B-cell|progenitor B-lymphocyte BTO:0003104 Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. cell owl:Class MONDO:0007353 biolink:NamedThing coloboma of macula-brachydactyly type B syndrome Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. tmpak2llvmy_mondo_relaxed.owl apical dystrophy|coloboma of macula with type B brachydactyly|Sorsby syndrome OMIM:120400|GARD:0001437|ICD10:Q87.1|Orphanet:1471|MESH:C535969|UMLS:C1852752|SCTID:717785002 owl:Class MONDO:0025167 biolink:NamedThing reticuloendotheliosis, avian A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. tmpak2llvmy_mondo_relaxed.owl Avian reticuloendotheliosis|Reticuloendothelioses, Avian|Avian Reticuloendothelioses UMLS:C0276487|MESH:D055761 owl:Class UBERON:0003824 biolink:NamedThing nerve of thoracic segment A nerve that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl upper body nerve|thorax nerve|thoracic segment nerve|nerve of thorax owl:Class UBERON:0003439 biolink:NamedThing nerve of trunk region A nerve that is part of the trunk region of the body (not to be confused with a nerve trunk). tmpak2llvmy_mondo_relaxed.owl torso nerve|nerve of trunk|nerve of torso|trunk nerve owl:Class MONDO:0001820 biolink:NamedThing focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. tmpak2llvmy_mondo_relaxed.owl circumscribed labyrinthitis UMLS:C0155505|ICD9:386.32|DOID:13867|SCTID:61794006 owl:Class CHEBI:24433 biolink:NamedThing group A defined linked collection of atoms or a single atom within a molecular entity. tmpak2llvmy_mondo_relaxed.owl Rest|Gruppe|grupos|group|groupe|grupo owl:Class MONDO:0009408 biolink:NamedThing hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase tmpak2llvmy_mondo_relaxed.owl hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase UMLS:C1855884|MESH:C565489|OMIM:240000 owl:Class MONDO:0001630 biolink:NamedThing branch retinal artery occlusion An occlusion of a branch of the retinal artery. tmpak2llvmy_mondo_relaxed.owl arterial retinal branch occlusion|retinal arterial branch occlusion SCTID:50821009|DOID:13094|NCIT:C34436|ICD10:H34.23|ICD9:362.32|UMLS:C0006123 Editor note: see https://github.com/obophenotype/human-phenotype-ontology/issues/4266 owl:Class MONDO:0013270 biolink:NamedThing Rett syndrome, congenital variant tmpak2llvmy_mondo_relaxed.owl Rett syndrome, congenital variant UMLS:C3150705|OMIM:613454 owl:Class MONDO:0007820 biolink:NamedThing fused mandibular incisors Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. tmpak2llvmy_mondo_relaxed.owl incisors, FUSED mandibular|Double tooth|'Double Tooth' GARD:0002419|Orphanet:2287|SCTID:707796002|ICD10:K00.2|OMIM:147251|UMLS:CN201433 https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors owl:Class MONDO:0011522 biolink:NamedThing hereditary spastic paraplegia 14 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 14|hereditary spastic paraplegia type 14|autosomal recessive spastic paraplegia type 14|spastic paraplegia 14, autosomal recessive|SPG14|spastic paraplegia 14 UMLS:C1854568|ICD10:G11.4|GARD:0009589|MESH:C537486|OMIM:605229|Orphanet:100995|DOID:0110767 owl:Class MONDO:0018603 biolink:NamedThing interstitial lung disease due to SP-C deficiency tmpak2llvmy_mondo_relaxed.owl interstitial lung disease due to surfactant protein C deficiency UMLS:CN237633|ICD10:J84.8|Orphanet:440392 owl:Class GO:0034757 biolink:NamedThing negative regulation of iron ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl inhibition of iron ion transport|downregulation of iron ion transport|negative regulation of iron transport|down regulation of iron ion transport|down-regulation of iron ion transport owl:Class MONDO:0001210 biolink:NamedThing enophthalmos Abnormal recession of the eyeball within the eye socket. tmpak2llvmy_mondo_relaxed.owl enophthalmos (disease)|enophthalmos enophthalmos (disease) ICD10:H05.4|UMLS:C0014306|SCTID:80093006|DOID:11175|HP:0000490|MESH:D015841|ICD10:H05.40|ICD9:376.5|ICD9:376.50 owl:Class MONDO:0002965 biolink:NamedThing parovarian cyst A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). tmpak2llvmy_mondo_relaxed.owl parovarian cyst|Paratubal cysts|cyst, Paratubal|cyst, fimbrial|embryonic fimbrial cyst|cysts, Paratubal|cysts, parovarian|Paratubal cyst|cyst, parovarian|Morgagni Hydatids|fimbrial cyst|Morgagni hydatid cyst|Morgagni hydatid|Morgagni hydatid cysts|hydatid cyst of Morgagni|hydatid of Morgagni|parovarian cysts MESH:D010310|SCTID:64233004|UMLS:C0030584|ICD10:Q50.4|DOID:4333|ICD10:Q50.5 owl:Class UBERON:0000320 biolink:NamedThing duodenal mucosa A mucosa that is part of a duodenum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl doudenal mucosa|duodenal mucous membrane|mucosa of duodenum|duodenum mucosa|mucous membrane of duodenum owl:Class MONDO:0018743 biolink:NamedThing immune-mediated acquired neuromuscular junction disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN242076|Orphanet:464764 owl:Class MONDO:0022941 biolink:NamedThing deafness hypospadias metacarpal and metatarsal syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001692 https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome owl:Class MONDO:0010619 biolink:NamedThing X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. tmpak2llvmy_mondo_relaxed.owl X-linked hypophosphatemic rickets|HYP|rickets, vitamin D-resistant|hypophophatemia, X-linked|hypophosphatemic rickets X-linked dominant|X-linked hereditary hypophosphatemic rickets|hypophosphatemia, X-linked|X-linked dominant hypophosphatemic rickets|X-linked hypophosphatemia|XLH|hypophosphatemia, vitamin D-resistant rickets|hereditary hypophosphatemic rickets, X-linked|HPDR|vitamin D-resistant rickets, X-linked|hypophosphatemic rickets, X-linked|hypophosphatemic vitamin D-resistant rickets|hypophophatemic vitamin D-resistant rickets|XLHR|hypophosphatemic rickets, X-linked dominant ICD10:E83.3|OMIM:307800|ICD10:E83.31|Orphanet:89936|SCTID:82236004|DOID:0050445|GARD:0012943 https://github.com/monarch-initiative/mondo/issues/2844 owl:Class NCBITaxon:129369 biolink:NamedThing Pulicoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:140693 biolink:NamedThing Pulicomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:21158 biolink:NamedThing RNF135 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003670 biolink:NamedThing posteroinferior myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart. tmpak2llvmy_mondo_relaxed.owl posteroinferior myocardial infarction by EKG finding|posteroinferior myocardial infarction by ECG finding DOID:5843 Editor note: TODO: positional superclass owl:Class MONDO:0006414 biolink:NamedThing skin sarcoma A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl skin sarcoma|sarcoma of zone of skin|sarcoma of the skin|cutaneous sarcoma|zone of skin sarcoma|sarcoma of skin EFO:1000531|DOID:2687|UMLS:C0856900|NCIT:C5585 owl:Class MONDO:0008442 biolink:NamedThing spastic paraplegia-neuropathy-poikiloderma syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia with neuropathy and poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|Antinolo-Nieto-Borrego syndrome|spastic paraplegia neuropathy poikiloderma UMLS:C1866851|OMIM:182815|Orphanet:2821|MESH:C536870|GARD:0004921 owl:Class GO:0004000 biolink:NamedThing adenosine deaminase activity Catalysis of the reaction: adenosine + H2O = inosine + NH3. tmpak2llvmy_mondo_relaxed.owl adenosine deaminase reaction|adenosine aminohydrolase activity owl:Class GO:0019239 biolink:NamedThing deaminase activity Catalysis of the removal of an amino group from a substrate, producing a substituted or nonsubstituted ammonia (NH3/NH2R). tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000097 biolink:NamedThing 3-year-old human stage Child stage that refers to a child who is over 3 and under 4 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030867 biolink:NamedThing thrombocytopenia 7 tmpak2llvmy_mondo_relaxed.owl thrombocytopenia 7|THC7|Thrombocytopenia, Autosomal Dominant, 7 OMIM:619130 owl:Class CHEBI:63248 biolink:NamedThing oxidising agent A substance that removes electrons from another reactant in a redox reaction. tmpak2llvmy_mondo_relaxed.owl oxidisers|oxidiser|oxidants|oxidizing agents|oxidising agents|oxidizers|oxidizer|oxidizing agent|oxidant owl:Class MONDO:0003417 biolink:NamedThing internuclear ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl UMLS:C0152134|SCTID:49823009|ICD10:H51.2|DOID:538|ICD9:378.86 owl:Class MONDO:0003425 biolink:NamedThing ophthalmoplegia Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. tmpak2llvmy_mondo_relaxed.owl oculomotor paralysis|total ophthalmoplegia ICD9:378.56|MESH:D009886|SCTID:78097002|DOID:539 owl:Class MONDO:0004267 biolink:NamedThing squamous papillomatosis A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site. tmpak2llvmy_mondo_relaxed.owl squamous papillomatosis NCIT:C9009|UMLS:C1378340|DOID:7532|ICDO:8060/0 owl:Class MONDO:0009316 biolink:NamedThing hair defect-photosensitivity-intellectual disability syndrome Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. tmpak2llvmy_mondo_relaxed.owl hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|Calderón-González-Cantu syndrome MESH:C537628|OMIM:234030|Orphanet:1408|GARD:0002582 owl:Class MONDO:0014439 biolink:NamedThing Bardet-Biedl syndrome 11 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome 11|Bardet-Biedl syndrome type 11|TRIM32 Bardet-Biedl syndrome|BBS11 ICD10:Q87.89|UMLS:C1859569|DOID:0110133|OMIM:615988|MESH:C565920|GARD:0010210 owl:Class MONDO:0016153 biolink:NamedThing qualitative or quantitative defects of TRIM32 tmpak2llvmy_mondo_relaxed.owl Orphanet:207107 owl:Class HGNC:8011 biolink:NamedThing CNTNAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045778 biolink:NamedThing positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpak2llvmy_mondo_relaxed.owl stimulation of ossification|positive regulation of bone biosynthesis|up regulation of ossification|upregulation of ossification|positive regulation of bone formation|up-regulation of ossification|activation of ossification owl:Class MONDO:0009581 biolink:NamedThing intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Belgian type mental retardation syndrome|Belgian type intellectual disability syndrome|mental retardation syndrome, Belgian type|intellectual disability syndrome, Belgian type SCTID:722454003|Orphanet:3044|ICD10:Q87.8|MESH:C537447|UMLS:C1855303|GARD:0009811|OMIM:249599 https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome owl:Class HGNC:6774 biolink:NamedThing SMAD9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003412 biolink:NamedThing retroperitoneal hemangiopericytoma A benign or malignant hemangiopericytoma arising from the retroperitoneum. tmpak2llvmy_mondo_relaxed.owl retroperitoneal space hemangiopericytoma UMLS:C1335777|DOID:5373|NCIT:C5386 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class GO:1903780 biolink:NamedThing negative regulation of cardiac conduction Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. tmpak2llvmy_mondo_relaxed.owl down regulation of cardiac conduction|downregulation of cardiac conduction|down-regulation of cardiac conduction|inhibition of cardiac conduction owl:Class MONDO:0018749 biolink:NamedThing hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. tmpak2llvmy_mondo_relaxed.owl HPFH-beta-thalassemia syndrome ICD10:D56.4|UMLS:CN205122|HGNC:5153|Orphanet:46532|HGNC:3627 owl:Class MONDO:0011108 biolink:NamedThing Stüve-Wiedemann syndrome A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. tmpak2llvmy_mondo_relaxed.owl neonatal Schwartz-Jampel syndrome|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|SJS2|Stuve-Wiedemann syndrome|Schwartz-Jampel syndrome, type 2|Schwartz-Jampel syndrome type 2|Schwartz-Jampel syndrome, neonatal|STUVE-Wiedemann syndrome|Stüve-Wiedemann syndrome|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|neonatal Schwartz-Jampel syndrome type 2|Stws|Schwartz-Jampel syndrome neonatal|Stüve-Wiedemann dysplasia ICD10:Q78.8|Orphanet:3206|UMLS:C0432240|SCTID:254097005|UMLS:C0796176|OMIM:601559|GARD:0005045|MESH:C537502 owl:Class MONDO:0001040 biolink:NamedThing nasopharyngitis An inflammatory process that affects the nasopharynx. tmpak2llvmy_mondo_relaxed.owl chronic nasopharyngitis|nasopharynx inflammation|inflammation of nasopharynx SCTID:47841006|NCIT:C34837|MESH:D009304|UMLS:C0027441|DOID:10460|UMLS:C0155826|ICD10:J31.1|ICD9:472.2|ICD10:J00 owl:Class MONDO:0003082 biolink:NamedThing filamentary keratitis tmpak2llvmy_mondo_relaxed.owl ICD9:370.23|SCTID:51286002|UMLS:C0155077|DOID:4664|ICD10:H16.12 owl:Class MONDO:0015806 biolink:NamedThing adult intestinal botulism A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. tmpak2llvmy_mondo_relaxed.owl adult intestinal toxin-mediated botulism|infant-like botulism|adult intestinal toxemia botulism|intestinal botulism of adults|adult intestinal colonization botulism Orphanet:178487|NCIT:C128344|UMLS:C4289991|ICD10:A05.1 owl:Class MONDO:0015805 biolink:NamedThing intestinal botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). tmpak2llvmy_mondo_relaxed.owl intestinal colonization botulism|intestinal toxin-mediated botulism|intestinal toxemia botulism DOID:0050141|Orphanet:178481|SCTID:409563004|UMLS:C1443901|ICD10:A05.1 owl:Class MONDO:0012346 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 4 tmpak2llvmy_mondo_relaxed.owl generalized epilepsy with febrile seizures plus, type 4|GEFSP4|Gefs+, type 4 DOID:0111293|MESH:C565227|OMIM:609800|UMLS:C1853345 owl:Class UBERON:0005445 biolink:NamedThing segment of pes A segment of autopod that is part of a pes. tmpak2llvmy_mondo_relaxed.owl subdivision of foot|foot region|foot subdivision|regio pedis|segment of foot owl:Class NCBITaxon:1437183 biolink:NamedThing Mesangiospermae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class MONDO:0000471 biolink:NamedThing tricuspid valve disease A disease involving the tricuspid valve. tmpak2llvmy_mondo_relaxed.owl tricuspid valve disease or disorder|rheumatic disease of tricuspid valve|rheumatic tricuspid valve disease|tricuspid disease|disease of tricuspid valve|tricuspid valve disorder|RH. tricuspid valve disease|disorder of tricuspid valve|tricuspid valve disease|disease or disorder of tricuspid valve ICD10:I07.9|DOID:0050826|SCTID:20721001|ICD9:397.0|ICD10:I07|NCIT:C78649|UMLS:C0264776|UMLS:C0264882 owl:Class HGNC:24502 biolink:NamedThing WDR62 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017920 biolink:NamedThing deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). tmpak2llvmy_mondo_relaxed.owl short stature, intellectual disability and multiple dysmorphisms|short stature, mental retardation and multiple dysmorphisms|sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|Pfeiffer-Kapferer syndrome|Pfeiffer Kapferer syndrome GARD:0004303|ICD10:Q87.8|UMLS:C2931654|Orphanet:3224|SCTID:721086004|MESH:C537887 owl:Class MONDO:0043775 biolink:NamedThing respiratory paralysis Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders. tmpak2llvmy_mondo_relaxed.owl respiratory muscle paralysis|paralysis, respiratory muscle|diaphragmatic paralysis|muscle paralysis, respiratory|paralysis, diaphragmatic|paralysis of diaphragm|paralysis, respiratory|muscle paralyses, respiratory MESH:D012133|SCTID:64228003 owl:Class MONDO:0006862 biolink:NamedThing myofascial pain syndrome Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. tmpak2llvmy_mondo_relaxed.owl EFO:1001054|MESH:D009209|DOID:431|SCTID:24693007|UMLS:C0027073|MedDRA:10048780|ICD9:729.1 owl:Class NCBITaxon:862507 biolink:NamedThing Mus tmpak2llvmy_mondo_relaxed.owl Mus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006037 biolink:NamedThing hydrolethalus syndrome Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. tmpak2llvmy_mondo_relaxed.owl Salonen-Herva-Norio syndrome|HLS|hydrolethalus Orphanet:2189|GARD:0006683|DOID:0050779|OMIMPS:236680|UMLS:C2931104|SCTID:721232000|ICD10:Q87.8|EFO:1000033|MESH:C536079 https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome owl:Class UBERON:0015593 biolink:NamedThing frontal gyrus A gyrus that is part of a frontal cortex. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016718 biolink:NamedThing choroid plexus carcinoma A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl choroid plexus cancer|carcinoma of the choroid plexus|cancer of the choroid plexus|malignant neoplasm of the choroid plexus|anaplastic choroid plexus papilloma|malignant tumor of choroid plexus|carcinoma, choroid plexus, malignant|cancer of choroid plexus|choroid plexus carcinoma|carcinoma of choroid plexus|malignant neoplasm of choroid plexus|choroid plexus carcinoma (morphologic abnormality) Orphanet:251899|ONCOTREE:CPC|NCIT:C4715|DOID:5648|ICD10:C71.7|GARD:0008238|MedDRA:10067478|ICDO:9390/3|SCTID:188292007|MESH:C562943 owl:Class MONDO:0032919 biolink:NamedThing intellectual developmental disorder 62 tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER 62|Mental Retardation, Autosomal Dominant 62|MRD62 OMIM:618793 owl:Class MONDO:0003713 biolink:NamedThing angiokeratoma circumscriptum tmpak2llvmy_mondo_relaxed.owl NCIT:C7751|SCTID:21848000|UMLS:C0263638|DOID:5949 owl:Class MONDO:0014649 biolink:NamedThing intellectual disability, autosomal recessive 50 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene. tmpak2llvmy_mondo_relaxed.owl EDC3 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|intellectual disability, autosomal recessive type 50|intellectual disability, autosomal recessive 50|MRT50|mental retardation, autosomal recessive 50|mental retardation, autosomal recessive type 50 OMIM:616460 owl:Class HGNC:21555 biolink:NamedThing EYS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016567 biolink:NamedThing locked-in syndrome Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. tmpak2llvmy_mondo_relaxed.owl Cerebromedullospinal disconnection|locked-in state|locked in syndrome ICD10:G83.5|Orphanet:2406|ICD9:344.81|DOID:12697|ICD10:G83.8|GARD:0006919|MedDRA:10024792|SCTID:38023001 https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome owl:Class MONDO:0054560 biolink:NamedThing anauxetic dysplasia 1 tmpak2llvmy_mondo_relaxed.owl ANXD1|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, Menger type|anauxetic dysplasia|anauxetic dysplasia 1 OMIM:607095 owl:Class HGNC:3261 biolink:NamedThing EIF2B5 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33598 biolink:NamedThing carbocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. tmpak2llvmy_mondo_relaxed.owl carbocyclic compounds|carbocyclic compound|carbocycle owl:Class CL:0000637 biolink:NamedThing chromophil cell of anterior pituitary gland A cell that stains readily in the anterior pituitary gland. tmpak2llvmy_mondo_relaxed.owl FMA:83089 cell owl:Class MONDO:0020830 biolink:NamedThing diaphragmitis tmpak2llvmy_mondo_relaxed.owl diaphragmitis|diaphragmatitis UMLS:C0011985|EFO:0000937|SCTID:73160007 owl:Class ENVO:01001617 biolink:NamedThing snow accumulation process A material accumulation process during which the mass of snow on a surface increases. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002865 biolink:NamedThing anus sarcoma A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the anus|anus sarcoma|anal sarcoma|sarcoma of anus NCIT:C5611|DOID:4067|UMLS:C1332277 owl:Class MONDO:0016750 biolink:NamedThing microcephaly-cleft palate syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl microcephaly cleft palate autosomal dominant|Halal syndrome|microcephaly-cleft palate-abnormal retinal pigmentation syndrome Orphanet:2521|GARD:0008623|SCTID:719394002|UMLS:C2930954|MESH:C535622|ICD10:Q87.8 owl:Class MONDO:0022461 biolink:NamedThing anophthalmia cleft palate micrognathia A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. tmpak2llvmy_mondo_relaxed.owl GARD:0000715 https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia owl:Class HGNC:7660 biolink:NamedThing NCF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054780 biolink:NamedThing elliptocytosis 3 tmpak2llvmy_mondo_relaxed.owl EL3|elliptocytosis 3|anemia, perinatal hemolytic, fatal or near-fatal MESH:C566678|OMIM:617948 owl:Class GO:0034637 biolink:NamedThing cellular carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016964 biolink:NamedThing partial duplication of the long arm of chromosome 14 tmpak2llvmy_mondo_relaxed.owl chromosome 14q duplication|Duplication 14q|partial duplication of the long arm of chromosome type 14|partial duplication of chromosome 14q|trisomy 14q|14q trisomy|partial trisomy of chromosome 14q|partial trisomy 14q|14q duplication|partial trisomy of the long arm of chromosome 14 Orphanet:262941|GARD:0005311 owl:Class HP:0000518 biolink:NamedThing Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. tmpak2llvmy_mondo_relaxed.owl Clouding of the lens of the eye|Cloudy lens|Cataracts|Lens opacities|Lens opacity UMLS:C0086543|SNOMEDCT_US:193570009|MSH:D002386|UMLS:C1510497|SNOMEDCT_US:247053007|SNOMEDCT_US:128306009|Fyler:4865 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). HP:0007825|HP:0001113|HP:0010700 human_phenotype owl:Class UBERON:0001087 biolink:NamedThing pleural fluid Transudate contained in the pleural cavity. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:44 biolink:NamedThing TAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7800 biolink:NamedThing NFKBIL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004875 biolink:NamedThing xanthogranulomatous cholecystitis Cholecystitis that is characterized by nodules containing lipid. tmpak2llvmy_mondo_relaxed.owl CX DOID:9766|NCIT:C35792|UMLS:C1337035|MESH:C536762|GARD:0009451|SCTID:448286002 https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis owl:Class MONDO:0004408 biolink:NamedThing schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. tmpak2llvmy_mondo_relaxed.owl composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor DOID:7951|NCIT:C42059|UMLS:C1516760 owl:Class MONDO:0007374 biolink:NamedThing Schnyder corneal dystrophy Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. tmpak2llvmy_mondo_relaxed.owl SCCD|SCD|corneal dystrophy crystalline of Schnyder|crystalline stromal dystrophy|Schnyder crystalline corneal dystrophy|corneal dystrophy, crystalline, of Schnyder|Schnyder crystalline dystrophy sine crystals|hereditary crystalline stromal dystrophy of Schnyder|corneal dystrophy, Schnyder|Schnyder corneal dystrophy ICD10:H18.5|OMIM:121800|SCTID:419395007|Orphanet:98967|MESH:C535475|DOID:0060456|GARD:0009277 owl:Class MONDO:0032571 biolink:NamedThing spondyloepimetaphyseal dysplasia, Krakow type tmpak2llvmy_mondo_relaxed.owl Immunoosseous Dysplasia, Krakow Type|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE|SEMDK OMIM:618162 owl:Class MONDO:0020815 biolink:NamedThing dentigerous cyst Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. tmpak2llvmy_mondo_relaxed.owl Dentigerous cyst|Dentigerous cyst of jaw|follicular cyst of jaw|dentigerous cyst|dentigerous odontogenic cyst|dentigerous cyst of jaw|Cyst, Dentigerous|Dentigerous odontogenic cyst|Dentigerous Cysts|Cysts, Dentigerous|Dentigerous Cyst MESH:D003803|UMLS:C0011428|SCTID:9245008 owl:Class MONDO:0006328 biolink:NamedThing odontogenic cyst A cyst in the jaw that arises from tissues of tooth development. tmpak2llvmy_mondo_relaxed.owl ICD9:526.89|SCTID:235110008|Wikipedia:Odontogenic_cyst|MESH:D009807|NCIT:C54220|EFO:1000406 owl:Class MONDO:0006896 biolink:NamedThing peptic esophagitis Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. tmpak2llvmy_mondo_relaxed.owl peptic reflux disease|reflux oesophagitis|reflux esophagitis|peptic esophagitis EFO:1001095|ICD9:530.11|MESH:D004942|UMLS:C0014869|DOID:13976|SCTID:57643001 owl:Class MONDO:0019479 biolink:NamedThing histiocytic sarcoma An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. tmpak2llvmy_mondo_relaxed.owl sarcoma, histiocytic, malignant|histiocytic sarcoma UMLS:C0334663|ICD10:C96.8|ONCOTREE:HS|ICD9:171.9|ICDO:9755/3|Orphanet:86896|SCTID:109988003|MESH:D054747|NCIT:C27349|ICD10:C96.A owl:Class MONDO:0004598 biolink:NamedThing acute cor pulmonale Acute form of cor pulmonale. tmpak2llvmy_mondo_relaxed.owl cor pulmonale, acute DOID:8517|SCTID:49584005|UMLS:C0155672|ICD9:415.0|ICD10:I26.09 owl:Class MONDO:0010305 biolink:NamedThing creatine transporter deficiency X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. tmpak2llvmy_mondo_relaxed.owl creatine transporter defect|mental retardation, X-linked, with creatine transport deficiency|creatine transporter deficiency|creatine deficiency, X-linked|mental retardation, X-linked with seizures, short stature and midface hypoplasia|intellectual disability, X-linked, with creatine Transport deficiency|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|intellectual disability, X-linked, with creatine transport deficiency|cerebral creatine deficiency syndrome 1|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|mental retardation, X-linked, with creatine Transport deficiency|CCDS1|X-linked creatine deficiency|X-linked creatine deficiency syndrome|creatine deficiency syndrome, X-linked|cerebral creatine deficiency syndrome type 1|X-linked creatine transporter deficiency|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|SLC6A8 deficiency ICD10:E72.8|Orphanet:52503|ICD9:758.81|SCTID:698290008|MESH:C535598|OMIM:300352|DOID:0050800|NCIT:C125665|GARD:0001608 owl:Class UBERON:0011594 biolink:NamedThing dentary tooth Tooth that is attached to a dentary/mandible[TAO,modified]. tmpak2llvmy_mondo_relaxed.owl tooth of dentary|mandibular tooth|mandibular teeth owl:Class MONDO:0100296 biolink:NamedThing Olmsted syndrome 1 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. tmpak2llvmy_mondo_relaxed.owl Olmsted syndrome|palmoplantar and periorificial keratoderma|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Orphanet:659|MedDRA:10068842|UMLS:C2609071|OMIM:614594|ICD10:Q82.8|GARD:0004075 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0031421 biolink:NamedThing Olmsted syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:614594 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016205 biolink:NamedThing IRVAN syndrome tmpak2llvmy_mondo_relaxed.owl idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|idiopathic retinal-aneurysms-neuroretinitis syndrome Orphanet:209943|UMLS:C3665812|ICD10:H35.0|GARD:0012868 owl:Class MONDO:0018893 biolink:NamedThing Cobb syndrome Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. tmpak2llvmy_mondo_relaxed.owl cutaneomeningospinal angiomatosis|SAMS 1-31|spinal arteriovenous metameric syndrome|Cobb's syndrome UMLS:C0346068|ICD10:Q27.3|SCTID:254774003|Orphanet:53721|MedDRA:10068841|NCIT:C4485|ICD9:239.2|GARD:0011892 https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome owl:Class UBERON:0004471 biolink:NamedThing musculature of pectoral girdle A subdivision of the musculature of the body in the pectoral girdle region. Includes pectoral and shoulder muscles. tmpak2llvmy_mondo_relaxed.owl pectoral girdle muscles|pectoral girdle musculature|set of muscles of pectoral girdle|muscle group of pectoral girdle owl:Class MONDO:0029144 biolink:NamedThing extraoral halitosis due to methanethiol oxidase deficiency tmpak2llvmy_mondo_relaxed.owl extraoral halitosis with dimethylsulfoxiduria|METHANETHIOL Oxidase Deficiency|EHMTO|MTO Deficiency|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY OMIM:618148 owl:Class MONDO:0005122 biolink:NamedThing Pectobacterium carotovorum infection A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). tmpak2llvmy_mondo_relaxed.owl Pectobacterium disease or disorder|Pectobacterium infectious disease|Pectobacterium caused disease or disorder EFO:0000781|Wikipedia:Pectobacterium_carotovorum owl:Class HGNC:14988 biolink:NamedThing POFUT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100176 biolink:NamedThing AP-4 deficiency syndrome A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. tmpak2llvmy_mondo_relaxed.owl AP-4 deficiency syndrome http://orcid.org/0000-0001-5208-3432 owl:Class HP:0100326 biolink:NamedThing Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. tmpak2llvmy_mondo_relaxed.owl UMLS:C0237653 doelkens 2010-09-16T06:00:43Z human_phenotype owl:Class MONDO:0006098 biolink:NamedThing atypical lobular breast hyperplasia Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast. tmpak2llvmy_mondo_relaxed.owl atypical lobular hyperplasia|atypical lobular breast hyperplasia|atypical lobular hyperplasia of the breast|ALH|atypical breast lobular hyperplasia|atypical lobular hyperplasia of breast SCTID:450697004|NCIT:C4730|EFO:1000100|ICD9:610.8 owl:Class ENVO:01000846 biolink:NamedThing water ice crystal A crystal which is primarily composed of water ice. tmpak2llvmy_mondo_relaxed.owl ice crystal owl:Class UBERON:0010028 biolink:NamedThing ventral part of pharyngeal pouch 4 tmpak2llvmy_mondo_relaxed.owl ventral 4th branchial pouch|ventral pharyngeal pouch 4 endoderm|ventral pharyngeal pouch 4|ventral branchial pouch 4 endoderm owl:Class UBERON:0012069 biolink:NamedThing epithelium-associated lymphoid tissue tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001744 biolink:NamedThing lymphoid tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. tmpak2llvmy_mondo_relaxed.owl lymphocytic tissue|lymphatic tissue owl:Class HGNC:6938 biolink:NamedThing CHST6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009903 biolink:NamedThing postaxial acrofacial dysostosis Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. tmpak2llvmy_mondo_relaxed.owl acrofacial dysostosis, Genee-Wiedmann type|Miller syndrome|postaxial acrofacial dysostosis (POADS) syndrome|Wildervanck-Smith syndrome|Genee-Wiedemann acrofacial dysostosis|postaxial acrodysostosis|POADS|postaxial acrofacial dysostosis|Genee-Wiedemann syndrome|Mandibulfacial dysostosis with postaxial limb anomalies|POADS syndrome|GWAFD GARD:0008410|Orphanet:246|DOID:0111259|ICD10:Q75.4|SCTID:66038001|OMIM:263750|ICD9:759.89|MESH:C537680|UMLS:C0265257 owl:Class MONDO:0054770 biolink:NamedThing orofaciodigital syndrome 18 tmpak2llvmy_mondo_relaxed.owl Ofds 18|oral-Facial-digital syndrome, type 18|orofaciodigital syndrome XVIII|OFD18 UMLS:CN244546|OMIM:617927 owl:Class MONDO:0003029 biolink:NamedThing skin angiosarcoma A malignant vascular neoplasm arising from the skin. tmpak2llvmy_mondo_relaxed.owl zone of skin angiosarcoma (disease)|angiosarcoma of skin|skin angiosarcoma|angiosarcoma (disease) of zone of skin|hemangiosarcoma of skin|skin hemangiosarcoma|hemangiosarcoma of the skin|angiosarcoma of the skin DOID:4517|UMLS:C0346081|NCIT:C4489|SCTID:254794007 owl:Class MONDO:0010922 biolink:NamedThing Satoyoshi syndrome Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. tmpak2llvmy_mondo_relaxed.owl Komuragaeri disease|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|Satoyoshi syndrome|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities MESH:C536616|UMLS:C1833454|MedDRA:10070579|Orphanet:3130|SCTID:763630007|OMIM:600705|GARD:0000160 https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome owl:Class MONDO:0002991 biolink:NamedThing adenocarcinofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma. tmpak2llvmy_mondo_relaxed.owl adenocarcinofibroma|adenofibroma, malignant|malignant adenofibroma NCIT:C40035|DOID:4422|UMLS:C1510778 owl:Class GO:0046916 biolink:NamedThing cellular transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016665 biolink:NamedThing unclassified vasculitis tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:251328|ICD10:M31.8 Reason: out of scope. Term to consider: MONDO_0018882. MONDO:0018882 owl:Class MONDO:0020448 biolink:NamedThing right inferior vena cava connecting to left-sided atrium tmpak2llvmy_mondo_relaxed.owl right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium ICD10:Q26.8|Orphanet:99119 owl:Class MONDO:0008347 biolink:NamedThing idiopathic and/or familial pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. tmpak2llvmy_mondo_relaxed.owl pulmonary hypertension, primary, type 1|PPH1|idiopathic and/or familial pulmonary arterial hypertension|pulmonary hypertension, primary, 1|IFPAH UMLS:CN205068|Orphanet:422|ICD10:I27.0 owl:Class MONDO:0018263 biolink:NamedThing fetal carbamazepine syndrome A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. tmpak2llvmy_mondo_relaxed.owl Orphanet:370076|UMLS:CN204839|UMLS:C0432370|SCTID:254249002|ICD9:760.8|ICD10:Q86.8 owl:Class UBERON:0003361 biolink:NamedThing epithelium of sublingual gland An epithelium that is part of a sublingual gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl sublingual gland epithelium|sublingual gland duct epithelium|Rivinus'gland epithelium|Rivinus'gland epithelial tissue|epithelial tissue of ductus sublingualis|sublingual duct epithelium|ductus sublingualis epithelial tissue|sublingual gland epithelial tissue|epithelium of ductus sublingualis|epithelial tissue of Rivinus'gland|ductus sublingualis epithelium|epithelium of Rivinus'gland|epithelial tissue of sublingual gland owl:Class MONDO:0018111 biolink:NamedThing idiopathic severe pneumococcemia tmpak2llvmy_mondo_relaxed.owl ICD10:A40.3|Orphanet:35065 owl:Class UBERON:0035523 biolink:NamedThing anterior surface of prostate The aspect of the prostate facing the pubic symphysis. tmpak2llvmy_mondo_relaxed.owl anterior surface of prostate gland|facies anterior prostatae|facies anterior (prostatae) owl:Class MONDO:0007694 biolink:NamedThing hairy nose tip tmpak2llvmy_mondo_relaxed.owl HNT|hairy nose tip GARD:0008465|OMIM:139630|MESH:C535619 https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip owl:Class MONDO:0001037 biolink:NamedThing ring corneal ulcer tmpak2llvmy_mondo_relaxed.owl ICD9:370.02|UMLS:C0155068|ICD10:H16.02|DOID:10444|SCTID:111520007 owl:Class MONDO:0011218 biolink:NamedThing autosomal recessive congenital ichthyosis 11 tmpak2llvmy_mondo_relaxed.owl ichthyosis with hypotrichosis, autosomal recessive|ARIH|ichthyosis-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|autosomal recessive congenital ichthyosis 11|autosomal recessive congenital ichthyosis type 11|ichthyosis, congenital, autosomal recessive type 11|ichthyosis, congenital, autosomal recessive 11|autosomal recessive ichthyosis with hypotrichosis|hypotrichosis-congenital ichthyosis syndrome|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|IFAH syndrome|ARCI11|IHS|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome OMIM:602400|UMLS:C1835851|DOID:0060720|Orphanet:91132|MESH:C536273|GARD:0010116|ICD10:Q80.8 owl:Class GO:0031342 biolink:NamedThing negative regulation of cell killing Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. tmpak2llvmy_mondo_relaxed.owl inhibition of cell killing|down-regulation of cell killing|down regulation of cell killing|downregulation of cell killing owl:Class MONDO:0008027 biolink:NamedThing muscular atrophy, malignant neurogenic tmpak2llvmy_mondo_relaxed.owl muscular atrophy, malignant neurogenic UMLS:C1834689|MESH:C563559|OMIM:158650 owl:Class GO:0031345 biolink:NamedThing negative regulation of cell projection organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpak2llvmy_mondo_relaxed.owl downregulation of cell projection organization|negative regulation of cell projection organization and biogenesis|negative regulation of cell projection organisation|down regulation of cell projection organization|down-regulation of cell projection organization|inhibition of cell projection organization owl:Class MONDO:0012008 biolink:NamedThing Lelis syndrome Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. tmpak2llvmy_mondo_relaxed.owl Lelis syndrome|ectodermal dysplasia-acanthosis nigricans syndrome|ectodermal dysplasia, hypohidrotic, with acanthosis nigricans GARD:0010367|SCTID:719429003|OMIM:608290|MESH:C564261|Orphanet:140936|UMLS:C1842307 https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome owl:Class MONDO:0006983 biolink:NamedThing subclavian steal syndrome An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. tmpak2llvmy_mondo_relaxed.owl subclavian steal steno-occlusive disease|subclavian artery stenosis|subclavian steal phenomenon UMLS:C0038531|DOID:13002|ICD9:435.2|SCTID:15258001|MESH:D013349|MedDRA:10042335|NCIT:C35044|EFO:1001195 owl:Class MONDO:0006648 biolink:NamedThing anterior compartment syndrome Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. tmpak2llvmy_mondo_relaxed.owl anterior compartment syndrome DOID:3933|UMLS:C0003152|EFO:1000808|SCTID:12694001|ICD10:M76.81|MESH:D000868 owl:Class MONDO:0000192 biolink:NamedThing polyglucosan body myopathy tmpak2llvmy_mondo_relaxed.owl OMIMPS:615895|UMLS:CN228160 owl:Class MONDO:0024252 biolink:NamedThing global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:488613 owl:Class UBERON:0035495 biolink:NamedThing hilum of lymph node The concave side of the lymph node. tmpak2llvmy_mondo_relaxed.owl hilum nodi lymphoidei|lymph node hilum owl:Class HGNC:7671 biolink:NamedThing NCOA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001779 biolink:NamedThing vaginal squamous papilloma A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus. tmpak2llvmy_mondo_relaxed.owl squamous papilloma of the vagina|vagina squamous papilloma|vaginal squamous papilloma|squamous papilloma of vagina UMLS:C1336943|DOID:137|NCIT:C6374 owl:Class MONDO:0010015 biolink:NamedThing anterior segment dysgenesis 7 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. tmpak2llvmy_mondo_relaxed.owl sclerocornea with other ocular anomalies|congenital cataract microcornea with corneal opacity|COPOA|PXDN anterior segment dysgenesis|corneal opacification and other ocular anomalies|CCMCO|corneal opacification with other ocular anomalies|sclerocornea with Other ocular anomalies|anterior segment dysgenesis caused by mutation in PXDN|anterior segment dysgenesis 7|ASGD7|corneal opacification with Other ocular anomalies Orphanet:289499|DOID:0060648|UMLS:C3151617|OMIM:269400 MONDO:0000817 owl:Class MONDO:0033008 biolink:NamedThing Galloway-Mowat syndrome 4 tmpak2llvmy_mondo_relaxed.owl GAMOS4|Galloway-Mowat syndrome 4 DOID:0080246|OMIM:617730|UMLS:CN570506 owl:Class HGNC:23719 biolink:NamedThing PGAP3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010952 biolink:NamedThing positive regulation of peptidase activity Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001453 biolink:NamedThing senile reticular retinal degeneration tmpak2llvmy_mondo_relaxed.owl Senile reticular degeneration of retina UMLS:C0154857|ICD9:362.64|DOID:12163|SCTID:54184008 owl:Class MONDO:0012870 biolink:NamedThing chromosome 2q31.2 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 2q31.2 deletion syndrome MESH:C567344|OMIM:612345|DOID:0060416|UMLS:C2676724 owl:Class MONDO:0100000 biolink:NamedThing MED12-related intellectual disability syndrome An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. tmpak2llvmy_mondo_relaxed.owl X-linked syndromic intellectual disability caused by mutation in MED12|MED12 X-linked syndromic intellectual disability|MED12-related intellectual disability syndrome 2018-03-09 01:45:27+00:00 owl:Class MONDO:0000474 biolink:NamedThing pericardium disease A disease involving the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium disease|pericardium disease or disorder|disease of pericardium|disorder of pericardium|disease or disorder of pericardium ICD9:423.9|ICD9:423.8|DOID:0050829|UMLS:C0265122|SCTID:55855009 owl:Class MONDO:0002207 biolink:NamedThing vulval Paget disease An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. tmpak2llvmy_mondo_relaxed.owl Paget disease of the vulva|Paget's disease of vulva|vulva Paget's disease|vulval Paget's disease|vulval Paget disease|mammalian vulva Paget disease|vulvar Paget's disease|Paget's disease of the vulva UMLS:C1275217|NCIT:C4027|SCTID:254898001|DOID:2097|ICD9:233.39 owl:Class MONDO:0008177 biolink:NamedThing extramammary Paget disease A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. tmpak2llvmy_mondo_relaxed.owl Paget's disease of skin|Paget's skin disease|cutaneous Paget's disease|Paget disease Extramammary|Paget's disease of the skin|extramammary Paget disease|Extramammary Paget's disease|Paget disease, EXTRAMAMMARY|EMPD MESH:D010145|MedDRA:10068223|ICD10:C44.5|ONCOTREE:EMPD|GARD:0004192|MedDRA:10033366|EFO:1000249|UMLS:C0030186|Orphanet:2800|ICDO:8542/3|NCIT:C3302|OMIM:167300 owl:Class MONDO:0004201 biolink:NamedThing pituitary hypoplasia Incomplete development of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl pituitary hypoplasia|pituitary gland hypoplasia DOID:7378|UMLS:C0948740|NCIT:C27343 owl:Class UBERON:0004464 biolink:NamedThing musculature of thorax Any collection of muscles that is part of a thorax [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl musculi thoracis|thoracic musculature|muscle group of thorax|set of muscles of thorax|muscles of thorax owl:Class CHEBI:33662 biolink:NamedThing annulene A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. tmpak2llvmy_mondo_relaxed.owl annulenes|annulene owl:Class CHEBI:33664 biolink:NamedThing monocyclic hydrocarbon tmpak2llvmy_mondo_relaxed.owl monocyclic hydrocarbon|monocyclic hydrocarbons owl:Class MONDO:0017509 biolink:NamedThing adactyly of foot, unilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of toes, unilateral Orphanet:295116|ICD10:Q72.8 owl:Class NCBITaxon:32008 biolink:NamedThing Burkholderia tmpak2llvmy_mondo_relaxed.owl Pseudomonas RNA homology group II PMID:25566316|PMID:1283774|GC_ID:11|PMID:10555347 ncbi_taxonomy owl:Class MONDO:0044141 biolink:NamedThing panic disorder without agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. tmpak2llvmy_mondo_relaxed.owl panic disorder without agoraphobia NCIT:C97193|EFO:1001906|SCTID:56576003 owl:Class MONDO:0005383 biolink:NamedThing panic disorder An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. tmpak2llvmy_mondo_relaxed.owl panic anxiety syndrome UMLS:CN240645|DOID:594|ICD9:300.01|SCTID:371631005|NCIT:C34890|EFO:0004262|MESH:D016584 owl:Class MONDO:0003365 biolink:NamedThing esophagus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl esophageal leiomyosarcoma|leiomyosarcoma of the esophagus|esophagus leiomyosarcoma|leiomyosarcoma of esophagus NCIT:C5334|DOID:5276|UMLS:C1333454 owl:Class MONDO:0006483 biolink:NamedThing urothelial dysplasia A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract. tmpak2llvmy_mondo_relaxed.owl transitional cell dysplasia of the urinary tract|urothelial dysplasia EFO:1000611|UMLS:C1275859|NCIT:C39856 This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. owl:Class HP:0200067 biolink:NamedThing Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. tmpak2llvmy_mondo_relaxed.owl Spontaneous abortion, recurrent UMLS:C3279439 sebastiankohler 2013-05-31T01:33:01Z human_phenotype owl:Class MONDO:0017185 biolink:NamedThing autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). tmpak2llvmy_mondo_relaxed.owl autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|dominant KATP hyperinsulinism due to Kir6.2 deficiency UMLS:C4274081|Orphanet:276580|ICD10:E16.1|UMLS:CN202626|SCTID:717045004 owl:Class MONDO:0006887 biolink:NamedThing parametritis Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. tmpak2llvmy_mondo_relaxed.owl parametrium inflammation|pelvic cellulitis|inflammation of parametrium DOID:1260|EFO:1001084|MESH:D010249|SCTID:280483007|UMLS:C0030455 owl:Class GO:0031406 biolink:NamedThing carboxylic acid binding Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015080 biolink:NamedThing proximal carpal bone pre-cartilage condensation A proximal carpal endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002113 biolink:NamedThing peritoneal carcinoma A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement. tmpak2llvmy_mondo_relaxed.owl primary peritoneal carcinoma|peritoneum carcinoma|carcinoma of peritoneum DOID:1791|SCTID:447781009 owl:Class MONDO:0033483 biolink:NamedThing erythrocytosis, familial, 5 Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene. tmpak2llvmy_mondo_relaxed.owl ECYT5|EPO familial polycythemia|erythrocytosis, familial, 5|familial polycythemia caused by mutation in EPO|familial erythrocytosis 5 DOID:0080290|OMIM:617907|UMLS:CN873435 owl:Class MONDO:0020587 biolink:NamedThing factor XI deficiency A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. tmpak2llvmy_mondo_relaxed.owl factor XI deficiency NCIT:C131739|SCTID:767713001 owl:Class MONDO:0016510 biolink:NamedThing epibulbar lipodermoid-preauricular appendage-polythelia syndrome Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. tmpak2llvmy_mondo_relaxed.owl Orphanet:231742|UMLS:CN226948 owl:Class HGNC:15865 biolink:NamedThing KIZ tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:7000063 biolink:NamedThing exposure to water in environment A exposure event involving the interaction of an exposure receptor to liquid water. tmpak2llvmy_mondo_relaxed.owl liquid water exposure owl:Class HGNC:7325 biolink:NamedThing MSH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012135 biolink:NamedThing restless legs syndrome, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl restless legs syndrome, susceptibility to, 2|RLS2 UMLS:C1837285|GARD:0009710|OMIM:608831 owl:Class FOODON:03311737 biolink:NamedThing processed food product tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F11737 http://langual.org subset_siren owl:Class HGNC:10627 biolink:NamedThing CCL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010430 biolink:NamedThing intellectual disability, X-linked 97 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. tmpak2llvmy_mondo_relaxed.owl Mrxz|MRX97|intellectual disability, X-linked 97|intellectual disability, X-linked type 97|mental retardation, X-linked 65|intellectual disability, X-linked 65|mental retardation, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|mental retardation, X-linked 97|ZNF711 non-syndromic X-linked intellectual disability UMLS:C2749020|MESH:C567583|OMIM:300803 owl:Class MONDO:0011003 biolink:NamedThing dilated cardiomyopathy 1E Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy with conduction disorder and arrhythmia|cardiomyopathy, dilated, with conduction disorder and arrhythmia|cardiomyopathy, dilated, with conduction defect 2|CDCD2|dilated cardiomyopathy with conduction defect 2|cardiomyopathy, dilated, type 1E|CMD1E|dilated cardiomyopathy type 1E|cardiomyopathy dilated with conduction defect type 2|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|SCN5A familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1E GARD:0005644|MESH:C563384|DOID:0110433|UMLS:C1832680|ICD10:I42.0|OMIM:601154 https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2 owl:Class MONDO:0005661 biolink:NamedThing babesiosis Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. tmpak2llvmy_mondo_relaxed.owl Babesia infectious disease|infection by Babesia|Human babesiosis|Babesia parasite infection|babesiasis|Babesia caused disease or disorder|piroplasmosis|Babesia disease or disorder MedDRA:10003965|GARD:0005878|ICD10:B60.0|MESH:D001404|EFO:0007162|UMLS:C0004576|NCIT:C84581|SCTID:21061004|DOID:9643|Orphanet:108|ICD9:088.82 https://rarediseases.info.nih.gov/diseases/5878/babesiosis owl:Class GO:0002253 biolink:NamedThing activation of immune response Any process that initiates an immune response. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018361 biolink:NamedThing neonatal scleroderma tmpak2llvmy_mondo_relaxed.owl ICD10:P83.8|Orphanet:398127 owl:Class MONDO:0007382 biolink:NamedThing Ramos-Arroyo syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|Ramos-Arroyo syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal anesthesia-deafness-intellectual disability syndrome GARD:0004636|UMLS:C2930866|OMIM:122430|ICD10:Q87.8|MESH:C535286|Orphanet:1051 owl:Class MONDO:0006736 biolink:NamedThing dysplasia of cervix Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. tmpak2llvmy_mondo_relaxed.owl MESH:D002578|ICD10:N87|ICD9:622.11|ICD9:622.10|MedDRA:10013957|UMLS:C0007868|EFO:1000910|ICD9:622.1|SCTID:73391008 owl:Class MONDO:0015717 biolink:NamedThing mild hemophilia B Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl mild factor IX deficiency|mild hemophilia type B Orphanet:169799|UMLS:CN200229|ICD10:D67 owl:Class MONDO:0013127 biolink:NamedThing asphyxiating thoracic dystrophy 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. tmpak2llvmy_mondo_relaxed.owl short rib-polydactyly syndrome, type 2B|SRPS2B|short rib-polydactyly syndrome, type IIB|short rib-polydactyly syndrome, Saldino-Noonan type|polydactyly with neonatal chondrodystrophy, type I|short rib-polydactyly syndrome type 1|polydactyly with neonatal chondrodystrophy, type 1|short-rib thoracic dysplasia 3 with or without polydactyly|SRPS1|short rib-polydactyly syndrome, type I|polydactyly with neonatal chondrodystrophy, type III|type I short rib polydactyly syndrome|asphyxiating thoracic dystrophy 3|Verma-Naumoff syndrome|polydactyly with neonatal chondrodystrophy type 1|SRPS type 1|SRTD3|SRPS3|ATD3|asphyxiating thoracic dystrophy type 3|polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 3|short rib-polydactyly syndrome Saldino-Noonan type|Saldino-Noonan syndrome|short rib-polydactyly syndrome, type 1 GARD:0004834|DOID:0050549|OMIM:613091|DOID:0110087|NCIT:C163755|SCTID:27330009|ICD10:Q77.2|Orphanet:93270 owl:Class HGNC:10872 biolink:NamedThing ST3GAL5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003433 biolink:NamedThing water-clear cell adenoma A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. tmpak2llvmy_mondo_relaxed.owl parathyroid gland water-clear cell adenoma|water-clear cell adenoma (morphologic abnormality) DOID:5401|UMLS:C0334321|ICDO:8322/0|NCIT:C4155 owl:Class MONDO:0004371 biolink:NamedThing spinal multifocal clear cell meningioma A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. tmpak2llvmy_mondo_relaxed.owl spinal multifocal clear cell meningioma|multifocal clear cell meningioma of the spine|multifocal clear cell meningioma of spine NCIT:C5287|UMLS:C1336051|DOID:7824 owl:Class GO:0006448 biolink:NamedThing regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002745 biolink:NamedThing fallopian tube mucinous tumor A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl fallopian tube mucinous tumor|fallopian tube mucinous neoplasm DOID:3705|NCIT:C40109|UMLS:C1517120 owl:Class MONDO:0007692 biolink:NamedThing hairy ears tmpak2llvmy_mondo_relaxed.owl hairy ears|hypertrichosis pinnae auris OMIM:139500|MESH:C562484|SCTID:89000008 owl:Class MONDO:0010958 biolink:NamedThing cardiac arrhythmia, ankyrin-B-related tmpak2llvmy_mondo_relaxed.owl cardiac arrhythmia, ankyrin-b-related|ankyrin-B syndrome|long QT syndrome 4|LQT4 DOID:0111701|OMIM:600919|SCTID:764457005|UMLS:C1970119|DOID:0111700|GARD:0010432 Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent owl:Class HGNC:388 biolink:NamedThing AKR1D1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009338 biolink:NamedThing hepatic veno-occlusive disease-immunodeficiency syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. tmpak2llvmy_mondo_relaxed.owl VODI|VODI syndrome|familial veno-occlusive disease with immunodeficiency|hepatic venoocclusive disease with immunodeficiency|veno-occlusive disease and immunodeficiency syndrome|hepatic veno-occlusive disease with immunodeficiency SCTID:724361001|UMLS:C1856128|MESH:C537257|ICD10:K76.5|OMIM:235550|Orphanet:79124|GARD:0010083 https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency owl:Class MONDO:0019514 biolink:NamedThing hepatic veno-occlusive disease Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. tmpak2llvmy_mondo_relaxed.owl sinusoidal obstruction syndrome|liver veno-occlusive disease|veno-occlusive disease|hepatic Vod GARD:0013004|MESH:D006504|SCTID:65617004|MedDRA:10047216|NCIT:C26793|Orphanet:890|DOID:0080177|ICD10:K76.5|ICD9:453.89|UMLS:C0019156 https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease owl:Class NCBITaxon:7509 biolink:NamedThing Siphonaptera tmpak2llvmy_mondo_relaxed.owl fleas GC_ID:1 NCBITaxon:7510|NCBITaxon:27416 ncbi_taxonomy owl:Class MONDO:0004559 biolink:NamedThing malignant glandular tumor of peripheral nerve sheath A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. tmpak2llvmy_mondo_relaxed.owl malignant glandular neoplasm of the peripheral nerve sheath|malignant glandular schwannoma|malignant glandular peripheral nerve sheath neoplasm|malignant glandular tumor of the peripheral nerve sheath|malignant glandular tumor of peripheral nerve sheath|glandular MPNST|glandular malignant peripheral nerve sheath tumor|malignant glandular neoplasm of peripheral nerve sheath|malignant glandular peripheral nerve sheath tumor UMLS:C1333821|DOID:8420|ICD9:171.9|NCIT:C6560|SCTID:699659007 owl:Class GO:0070626 biolink:NamedThing (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. tmpak2llvmy_mondo_relaxed.owl succino AMP-lyase activity|adenylosuccinate lyase activity|adenylosuccinase activity owl:Class MONDO:0023180 biolink:NamedThing fragile X syndrome type 3 tmpak2llvmy_mondo_relaxed.owl GARD:0002368 https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3 owl:Class MONDO:0060490 biolink:NamedThing neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|NMIHBA UMLS:C4479566|OMIM:617481 owl:Class MONDO:0008655 biolink:NamedThing vestibulocochlear dysfunction, progressive tmpak2llvmy_mondo_relaxed.owl vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction UMLS:C2931176|MESH:C536346|OMIM:193005|GARD:0005489 https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive owl:Class MONDO:0005471 biolink:NamedThing neurally mediated hypotension Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal tmpak2llvmy_mondo_relaxed.owl EFO:0005254 owl:Class NCIT:C15492 biolink:NamedThing Estrogen Receptor Positive tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C16150 biolink:NamedThing Estrogen Receptor Status tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009582 biolink:NamedThing detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl perception of abiotic stimulus owl:Class MONDO:0002622 biolink:NamedThing multifocal osteogenic sarcoma A primary bone osteosarcoma affecting multiple bone sites. tmpak2llvmy_mondo_relaxed.owl multicentric osteosarcoma|multifocal osteosarcoma NCIT:C6470|UMLS:C1334820|DOID:3360 owl:Class MONDO:0001301 biolink:NamedThing rumination disorder Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. tmpak2llvmy_mondo_relaxed.owl rumination|psychogenic rumination|rumination syndrome NCIT:C92567|GARD:0007594|MESH:D019959|SCTID:192014006|DOID:11507|ICD9:307.53 https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder owl:Class MONDO:0003677 biolink:NamedThing lateral myocardial infarction tmpak2llvmy_mondo_relaxed.owl DOID:5853 owl:Class NCBITaxon:1851469 biolink:NamedThing Trichosporonales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009410 biolink:NamedThing Addison disease A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI). tmpak2llvmy_mondo_relaxed.owl Addison disease|adrenal aplasia|Addison disease, chronic adrenal insufficiency|classic Addison's disease|autoimmune Addison's disease|autoimmune Addison disease|primary adrenocortical insufficiency|autoimmune primary adrenal insufficiency|primary hypoadrenalism|adrenal gland hypofunction|primary Addison's disease|hypoadrenocorticism, familial|Addison's disease|hypoadrenocorticism familial|adrenal hypoplasia|autoimmune adrenalitis ICD10:E27.1|UMLS:C0271737|GARD:0005740|NCIT:C113814|SCTID:373662000|ICD9:255.41|OMIM:240200|DOID:13774|Orphanet:85138|MedDRA:10001130 owl:Class MONDO:0015130 biolink:NamedThing acquired chronic primary adrenal insufficiency An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired chronic primary adrenal insufficiency Orphanet:101963 owl:Class MONDO:0100404 biolink:NamedThing acute myeloid leukemia, MLL gene rearrangement Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.) tmpak2llvmy_mondo_relaxed.owl AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement|AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement|AML, KMT2A Rearrangement|AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement|AML, Mixed Lineage Leukemia Gene Rearrangement|AML, MLL gene rearrangement|AML, MLL Rearrangement|AML, Myeloid/Lymphoid Leukemia Gene Rearrangement|AML, KMT2A Gene Rearrangement|AML, Lysine Methyltransferase 2A Gene Rearrangement NCIT:C174129 owl:Class MONDO:0017136 biolink:NamedThing omodysplasia Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. tmpak2llvmy_mondo_relaxed.owl SCTID:725164008|Orphanet:2733|UMLS:C4510897|ICD10:Q78.8|OMIMPS:258315|DOID:0060288 owl:Class MONDO:0013401 biolink:NamedThing hereditary spastic paraplegia 51 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene. tmpak2llvmy_mondo_relaxed.owl spastic quadriplegic cerebral palsy 4|cerebral palsy, spastic quadriplegic, 4|autosomal dominant spastic paraplegia 51|hereditary spastic paraplegia type 51|CPSQ4|AP4E1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 4, formerly|SPG51|spastic paraplegia 51, autosomal recessive|hereditary spastic paraplegia caused by mutation in AP4E1 OMIM:613744|UMLS:C3151056|DOID:0110803|GARD:0010999 owl:Class GO:0008144 biolink:NamedThing drug binding Binding to a drug, a naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism;typically used in the diagnosis, prevention, or treatment of disease. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012985 biolink:NamedThing hereditary spherocytosis type 5 Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spherocytosis caused by mutation in EPB42|hereditary spherocytosis type 5|HS5|spherocytosis, type 5|SPH5|spherocytosis, hereditary, 5|hereditary spherocytosis 5|EPB42 hereditary spherocytosis UMLS:C2675192|MESH:C567202|DOID:0110920|OMIM:612690 owl:Class MONDO:0011787 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|limb-girdle muscular dystrophy type 2I|muscular dystrophy limb-girdle type 2I|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|FKRP autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|MDDGC5|limb-girdle muscular dystrophy due to FKRP deficiency|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|LGMD2I|LGMD-FKRP related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MESH:C564612|DOID:0110299|ICD10:G71.0|Orphanet:34515|OMIM:607155|SCTID:718180000|GARD:0012533|NCIT:C126739 owl:Class GO:1903019 biolink:NamedThing negative regulation of glycoprotein metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. tmpak2llvmy_mondo_relaxed.owl downregulation of glycoprotein metabolism|down regulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process|down regulation of glycoprotein metabolism|downregulation of glycoprotein metabolic process|negative regulation of glycoprotein metabolism|inhibition of glycoprotein metabolism|down-regulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process owl:Class MONDO:0017084 biolink:NamedThing leptomyelolipoma Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present. tmpak2llvmy_mondo_relaxed.owl Orphanet:268838 owl:Class MONDO:0054764 biolink:NamedThing neurodegeneration with brain iron accumulation 8 tmpak2llvmy_mondo_relaxed.owl NBIA8|neurodegeneration with brain iron accumulation 8 UMLS:CN895591|OMIM:617917 owl:Class GO:0002344 biolink:NamedThing B cell affinity maturation The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen. tmpak2llvmy_mondo_relaxed.owl B-cell affinity maturation|B lymphocyte affinity maturation|B-lymphocyte affinity maturation owl:Class GO:0002343 biolink:NamedThing peripheral B cell selection Any B cell selection process that occurs in the periphery. tmpak2llvmy_mondo_relaxed.owl peripheral B-cell selection|peripheral B lymphocyte selection|peripheral B-lymphocyte selection owl:Class HGNC:30262 biolink:NamedThing PYCR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011549 biolink:NamedThing hypotrichosis 1 Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene. tmpak2llvmy_mondo_relaxed.owl APCDD1 hypotrichosis|hereditary generalized hypotrichosis simplex|hypotrichosis 1|HTS|HYPT1|hypotrichosis caused by mutation in APCDD1|hypotrichosis simplex, generalized, hereditary|HHS|hypotrichosis type 1 DOID:0110698|OMIM:605389 owl:Class SO:0000056 biolink:NamedThing hypoploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as some chromosomes are missing. tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000054 biolink:NamedThing aneuploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051245 biolink:NamedThing negative regulation of cellular defense response Any process that stops, prevents, or reduces the rate of the cellular defense response. tmpak2llvmy_mondo_relaxed.owl inhibition of cellular defense response|down-regulation of cellular defense response|down regulation of cellular defense response|negative regulation of cellular defence response|downregulation of cellular defense response owl:Class HP:0005506 biolink:NamedThing Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. tmpak2llvmy_mondo_relaxed.owl Chronic myelocytic leukaemia|Chronic myelogenous leukaemia|Chronic myelocytic leukemia|Chronic myeloid leukemia|Chronic myeloid leukaemia SNOMEDCT_US:63364005|UMLS:C0023473|DOID:8552|MSH:D015464|SNOMEDCT_US:92818009 HP:0005544 human_phenotype owl:Class HP:0005558 biolink:NamedThing Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpak2llvmy_mondo_relaxed.owl Chronic leukaemia|Chronic blood cancer SNOMEDCT_US:92812005|UMLS:C1279296|SNOMEDCT_US:128933000|UMLS:C4280478 peter 2008-03-27T10:32:00Z human_phenotype owl:Class MONDO:0010785 biolink:NamedThing maternally-inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. tmpak2llvmy_mondo_relaxed.owl MIDD|Ballinger-Wallace syndrome|diabetes-deafness syndrome, maternally Transmitted|noninsulin-dependent diabetes mellitus with deafness|diabetes mellitus type II with deafness|maternally inherited diabetes and deafness|Ballinger Wallace syndrome|diabetes and deafness, maternally inherited|diabetes mellitus, type II, with deafness|Niddm with deafness|mitochondrial diabetes GARD:0004003|ICD10:E13.8|SCTID:237619009|UMLS:C0342289|UMLS:C4330695|ICD9:250.80|NCIT:C131859|Orphanet:225|MESH:C536246|OMIM:520000 https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness owl:Class MONDO:0009573 biolink:NamedThing megaepiphyseal dwarfism tmpak2llvmy_mondo_relaxed.owl megaepiphyseal dwarfism OMIM:249230|GARD:0003444 https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism owl:Class MONDO:0003388 biolink:NamedThing ampulla of vater clear cell adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. tmpak2llvmy_mondo_relaxed.owl ampulla of Vater clear cell adenocarcinoma|hepatopancreatic ampulla clear cell adenocarcinoma NCIT:C27414|UMLS:C1332246|DOID:5308 owl:Class UBERON:0015418 biolink:NamedThing urethra mesenchymal layer A mesenchyme that is part of a urethra. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010366 biolink:NamedThing conjunctival vasculature A vasculature that is part of a conjunctiva. tmpak2llvmy_mondo_relaxed.owl venae conjunctivales|set of conjunctival veins|conjunctival veins set|conjunctival veins owl:Class GO:0051146 biolink:NamedThing striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. tmpak2llvmy_mondo_relaxed.owl voluntary muscle cell differentiation owl:Class MONDO:0004663 biolink:NamedThing colon carcinoma in situ A in situ carcinoma that involves the colon. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of the colon|colonic carcinoma in situ|stage 0 carcinoma of the colon|stage 0 colon cancer aJCC v6 and v7|colon in situ carcinoma|stage 0 colon carcinoma|stage 0 colon cancer|colon cancer stage 0|carcinoma in situ of colon|colon carcinoma in situ|stage 0 colon cancer aJCC v7|stage 0 carcinoma of colon|stage 0 colonic carcinoma|stage 0 colon cancer aJCC v6 SCTID:92568009|ICD10:D01.0|DOID:8826|NCIT:C3638|ICD9:230.3|UMLS:C0154061 owl:Class MONDO:0013479 biolink:NamedThing dilated cardiomyopathy 1HH Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1HH|BAG3 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in BAG3|CMD1HH|cardiomyopathy, dilated, type 1Hh|cardiomyopathy, dilated, 1HH DOID:0110448|UMLS:C3151293|OMIM:613881|ICD10:I42.0 owl:Class MONDO:0018601 biolink:NamedThing autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:440354|UMLS:CN237631 owl:Class MONDO:0009167 biolink:NamedThing Bonnemann-Meinecke-Reich syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. tmpak2llvmy_mondo_relaxed.owl encephalopathy-intracerebral calcification-retinal degeneration syndrome|Bonnemann Meinecke Reich syndrome|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration OMIM:225755|GARD:0002113|SCTID:733049004|UMLS:C1856973|MESH:C565594|ICD10:Q04.8|Orphanet:1261 https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration owl:Class HP:0002823 biolink:NamedThing Abnormality of femur morphology Any anomaly of the structure of the femur. tmpak2llvmy_mondo_relaxed.owl Abnormality of the femora|Abnormality of the thighbone UMLS:C4021750 The femur (plural: femora) is the thigh bone. HP:0001439 human_phenotype owl:Class MONDO:0600017 biolink:NamedThing acinar dysplasia caused by mutation in FGF10 Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpak2llvmy_mondo_relaxed.owl FGF10 related acinar dysplasia|FGF10 acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0008962 biolink:NamedThing Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. tmpak2llvmy_mondo_relaxed.owl partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome, type 1|Griscelli-Pruniéras syndrome type 1|Griscelli syndrome, cutaneous and neurologic type|Griscelli syndrome with neurological impairment|Griscelli syndrome with neurologic impairment|pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli syndrome type 1|Griscelli disease type 1|hypopigmentation-neurologic impairment syndrome|GS1 ICD10:E70.3|Orphanet:79476|UMLS:C1859194|GARD:0002566|OMIM:214450|MESH:C537301|DOID:0060832 https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 owl:Class MONDO:0010263 biolink:NamedThing Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome tmpak2llvmy_mondo_relaxed.owl AMME complex|ATS-MR|Ats-Mr|chromosome Xq22.3 telomeric deletion syndrome|AMME syndrome|Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis SCTID:720982007|OMIM:300194|ICD10:Q87.8|MESH:C564570|Orphanet:86818|UMLS:C1846242 owl:Class NCBITaxon:8030 biolink:NamedThing Salmo salar tmpak2llvmy_mondo_relaxed.owl Atlantic salmon GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8028 biolink:NamedThing Salmo tmpak2llvmy_mondo_relaxed.owl Acantholingua|Salmothymus GC_ID:1 NCBITaxon:62064|NCBITaxon:82302 ncbi_taxonomy owl:Class MONDO:0004523 biolink:NamedThing clear cell squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent clear cell component. tmpak2llvmy_mondo_relaxed.owl clear cell squamous cell carcinoma of skin|clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of the skin NCIT:C4459|UMLS:C0345978|DOID:8288|SCTID:254652000 owl:Class HGNC:5044 biolink:NamedThing HNRNPK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006795 biolink:NamedThing hypersplenism Overactive functioning of the spleen, resulting in excessive destruction of blood cells. tmpak2llvmy_mondo_relaxed.owl hypersplenism (disease)|hypersplenism|hypersplenia hypersplenism (disease) MedDRA:10020769|SCTID:58381000|UMLS:C0020532|NCIT:C34714|DOID:6376|MESH:D006971|HP:0001971|EFO:1000975|ICD10:D73.1|ICD9:289.4 owl:Class MONDO:0011898 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive UMLS:C1843183|OMIM:607706 owl:Class MONDO:0012014 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate A Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, recessive intermediate, A|Charcot-Marie-Tooth disease recessive intermediate type A|Ri-Cmta|RI-CMT type A|GDAP1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|RI-CMTA|Charcot-Marie-Tooth disease, recessive intermediate A|Charcot-Marie-Tooth disease, recessive Intermediate type a|Charcot-Marie-Tooth disease caused by mutation in GDAP1|CMTRIA|Charcot-Marie-Tooth neuropathy recessive intermediate A UMLS:C1842197|OMIM:608340|Orphanet:217055|GARD:0012453|ICD10:G60.0|MESH:C564256|DOID:0110201 owl:Class MONDO:0000937 biolink:NamedThing syphilitic encephalitis An encephalitis caused by infection with Treponema. tmpak2llvmy_mondo_relaxed.owl Treponema caused encephalitis|Treponema encephalitis DOID:10081|SCTID:26135000|UMLS:C0153168|ICD9:094.81 owl:Class MONDO:0019668 biolink:NamedThing adenoma of pancreas tmpak2llvmy_mondo_relaxed.owl adenoma of the pancreas|pancreatic adenoma SCTID:208061000119101|ICD10:D13.6|UMLS:C1142432|Orphanet:93292|GARD:0004204|MESH:C538110|UMLS:C4076724|MedDRA:10058902 owl:Class MONDO:0003553 biolink:NamedThing ampulla of vater adenosquamous carcinoma A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpak2llvmy_mondo_relaxed.owl hepatopancreatic ampulla adenosquamous carcinoma|ampulla of Vater adenosquamous carcinoma UMLS:C1332245|NCIT:C27418|DOID:5628 owl:Class MONDO:0010424 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 4 tmpak2llvmy_mondo_relaxed.owl SMDP4|Pap due to Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4|Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, 4|pulmonary alveolar proteinosis, congenital, 4 OMIM:300770|MESH:C567461|UMLS:C2677877 owl:Class MONDO:0003078 biolink:NamedThing extraocular retinoblastoma Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. tmpak2llvmy_mondo_relaxed.owl metastatic retinoblastoma|extraocular retinoblastoma DOID:4656|UMLS:C0278719|NCIT:C7848 owl:Class NCBITaxon:1485 biolink:NamedThing Clostridium tmpak2llvmy_mondo_relaxed.owl Anaerobacter PMID:26643615|GC_ID:11|PMID:27488356 NCBITaxon:69207 ncbi_taxonomy owl:Class MONDO:0006758 biolink:NamedThing female genital tuberculosis Mycobacterium infections of the female reproductive tract (genitalia, female). tmpak2llvmy_mondo_relaxed.owl SCTID:74181004|MESH:D014384|MedDRA:10061150|EFO:1000935 owl:Class UBERON:0014671 biolink:NamedThing distal interphalangeal joint of manural digit 5 tmpak2llvmy_mondo_relaxed.owl distal interphalangeal joint of little finger|distal interphalangeal joint of manural digit V owl:Class MONDO:0006000 biolink:NamedThing tuberculous peritonitis A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. tmpak2llvmy_mondo_relaxed.owl Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis DOID:9801|UMLS:C0041325|EFO:0007529|ICD10:A18.31|ICD9:014.01|ICD9:014.00|MESH:D014395|SCTID:44572005|ICD9:014.0 owl:Class MONDO:0004752 biolink:NamedThing neurofibroma of the heart A rare neurofibroma that affects the heart. tmpak2llvmy_mondo_relaxed.owl neurofibroma of heart|Cardiac neurofibroma|heart neurofibroma|neurofibroma of the heart NCIT:C5359|DOID:9300|UMLS:C1096349 owl:Class HP:0003623 biolink:NamedThing Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. tmpak2llvmy_mondo_relaxed.owl Onset in neonatal period|Neonatal onset|Onset in first weeks of life UMLS:C1855106 HP:0003622 human_phenotype owl:Class HGNC:7067 biolink:NamedThing CIITA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020357 biolink:NamedThing coloboma of eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. tmpak2llvmy_mondo_relaxed.owl coloboma of the eyelid UMLS:C0521573|SCTID:95202004|ICD10:Q10.3|NCIT:C98878|Orphanet:98946 owl:Class UBERON:0002409 biolink:NamedThing pericardial fluid Transudate contained in the pericardial cavity.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009093 biolink:NamedThing dermatoleukodystrophy Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. tmpak2llvmy_mondo_relaxed.owl Dermatoleukodystrophy OMIM:221790|ICD10:E75.2|UMLS:C1857314|MESH:C538220|Orphanet:1659|SCTID:733044009|GARD:0001813 https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy owl:Class MONDO:0002355 biolink:NamedThing glottis carcinoma A carcinoma that arises from epithelial cells of the glottis. tmpak2llvmy_mondo_relaxed.owl glottic carcinoma|glottis carcinoma|carcinoma of the glottis|glottis cancer|cancer of the glottis|glottic throat cancer|carcinoma of glottis|cancer of glottis DOID:2599|NCIT:C4923|UMLS:C0740083|SCTID:372103002 owl:Class HP:0010316 biolink:NamedThing Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. tmpak2llvmy_mondo_relaxed.owl Ebstein's malformation|Ebstein's anomaly of the tricuspid valve|Ebstein's anomaly SNOMEDCT_US:204357006|EPCC:06.01.34|ICD-10:Q22.5|MSH:D004437|UMLS:C0013481 Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. peter 2009-07-14T11:12:07Z HP:0006674 human_phenotype owl:Class CHEBI:36389 biolink:NamedThing saturated organic heteromonocyclic parent tmpak2llvmy_mondo_relaxed.owl saturated organic heteromonocyclic parents|saturated heteromonocyclic parent hydrides|saturated heteromonocyclic parent hydride owl:Class GO:0001539 biolink:NamedThing cilium or flagellum-dependent cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. tmpak2llvmy_mondo_relaxed.owl ciliary or bacterial-type flagellar motility|ciliary/flagellar motility owl:Class MONDO:0004104 biolink:NamedThing splenic manifestation of hairy cell leukemia A hairy cell leukemia that involves the spleen. tmpak2llvmy_mondo_relaxed.owl hairy cell leukemia of spleen|spleen hairy cell leukemia|splenic manifestation of hairy cell leukemia SCTID:93151007|DOID:709|UMLS:C1336064|NCIT:C7301|ICD9:202.47 owl:Class GO:0006012 biolink:NamedThing galactose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. tmpak2llvmy_mondo_relaxed.owl galactose metabolism owl:Class MONDO:0024711 biolink:NamedThing malignant mixed epithelial stromal tumor of the kidney A mixed epithelial stromal tumor of the kidney with malignant stromal features. tmpak2llvmy_mondo_relaxed.owl malignant mixed epithelial stromal tumor of the kidney|malignant MEST|mixed epithelial stromal tumor of the kidney, malignant NCIT:C37265|UMLS:C1334602 owl:Class HGNC:923 biolink:NamedThing B3GAT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014496 biolink:NamedThing mitochondrial complex III deficiency nuclear type 9 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in UQCC3|mitochondrial Complex 3 deficiency, nuclear type 9|MC3DN9|UQCC3 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 9 DOID:0080118|UMLS:C4015253|OMIM:616111 owl:Class MONDO:0006041 biolink:NamedThing lung carcinoid tumor A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. tmpak2llvmy_mondo_relaxed.owl carcinoid tumor of the lung|pulmonary carcinoid tumor|carcinoid tumor of lung|lung carcinoid|lung carcinoid tumor (disease)|lung carcinoid tumor|carcinoid tumor (disease) of lung NCIT:C4038|ONCOTREE:LUCA|UMLS:C0280089|SCTID:254627002|EFO:1000037 owl:Class MONDO:0019473 biolink:NamedThing enteropathy-associated T-cell lymphoma An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease. tmpak2llvmy_mondo_relaxed.owl high-grade pleomorphic peripheral T-cell lymphoma|enteropathy-type T-cell lymphoma|intestinal T-cell lymphoma|ETTL|EATCL|enteropathy-associated T-cell lymphoma, type I|enteropathy associated T-cell lymphoma|EATL, type I|EATL GARD:0009809|MedDRA:10022703|SCTID:277654008|ICDO:9717/3|MESH:D058527|ONCOTREE:EATL|ICD10:C86.2|Orphanet:86880|UMLS:C0456889|ICD9:202.70|NCIT:C4737 Editor note: consider moving ORDO class to SI subclass https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma owl:Class UBERON:0002340 biolink:NamedThing epithelium of main bronchus An epithelium that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchus principalis epithelial tissue|epithelium of principal bronchus|principal bronchus epithelial tissue|epithelium of bronchus principalis|primary bronchus epithelial tissue|epithelium of primary bronchus|epithelial tissue of primary bronchus|main bronchial epithelium|primary bronchus epithelium|epithelial tissue of main bronchus|epithelial tissue of principal bronchus|main bronchus epithelium|principal bronchus epithelium|main bronchus epithelial tissue|epithelial tissue of bronchus principalis|bronchus principalis epithelium owl:Class MONDO:0023595 biolink:NamedThing congenital myotonic dystrophy Myotonic dystrophy that is present at birth. tmpak2llvmy_mondo_relaxed.owl dystrophy, Congenital Myotonic|congenital myotonic dystrophy|Congenital myotonic dystrophy|Congenital Myotonic dystrophies|MYOTONIC dystrophy CONGEN|Myotonic dystrophy, Congenital|Myotonic dystrophies, Congenital|dystrophies, Congenital Myotonic|Congenital Myotonic dystrophy NCIT:C123308|GARD:0009134|UMLS:C0410226 owl:Class MONDO:0007466 biolink:NamedThing DNA, satellite, 3 tmpak2llvmy_mondo_relaxed.owl HS3|DNA, satellite, III|D1Z1|DNA, satellite, type 3 OMIM:126370 Editor note: TODO check owl:Class MONDO:0003022 biolink:NamedThing pediatric angiosarcoma An angiosarcoma occurring in childhood. tmpak2llvmy_mondo_relaxed.owl pediatric angiosarcoma|pediatric hemangiosarcoma|childhood angiosarcoma (disease)|childhood angiosarcoma|angiosarcoma|angiosarcoma (disease) of childhood|pediatric angiosarcoma (disease)|childhood hemangiosarcoma UMLS:C0279988|NCIT:C9174|DOID:4505 owl:Class HGNC:4452 biolink:NamedThing GPC4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009621 biolink:NamedThing microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl microcephaly cervical spine fusion anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly with cervical spine fusion anomalies SCTID:715462003|GARD:0003610|Orphanet:2522|UMLS:C0796066|OMIM:251250|MESH:C537325|ICD10:Q87.8 owl:Class UBERON:0010161 biolink:NamedThing lumen of blood vessel An anatomical cavity that surrounded_by a blood vessel. tmpak2llvmy_mondo_relaxed.owl blood vessel lumen owl:Class HP:0009145 biolink:NamedThing Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. tmpak2llvmy_mondo_relaxed.owl Abnormality of cerebral artery|Abnormality of the cerebral arteries UMLS:C4021520 peter 2008-05-02T01:39:00Z human_phenotype owl:Class NCBITaxon:7165 biolink:NamedThing Anopheles gambiae tmpak2llvmy_mondo_relaxed.owl Anopheles gambiae S|African malaria mosquito|Anopheles gambiae sensu stricto PMID:16076241|GC_ID:1 NCBITaxon:377270 ncbi_taxonomy owl:Class NCBITaxon:44542 biolink:NamedThing gambiae species complex tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0030203 biolink:NamedThing glycosaminoglycan metabolic process The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. tmpak2llvmy_mondo_relaxed.owl glycosaminoglycan metabolism owl:Class MONDO:0023193 biolink:NamedThing Friedman Goodman syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002387 https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome owl:Class MONDO:0014564 biolink:NamedThing congenital bile acid synthesis defect 5 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. tmpak2llvmy_mondo_relaxed.owl bile acid synthesis defect, congenital, 5|congenital bile acid synthesis defect 5|congenital bile acid synthesis defect caused by mutation in ABCD3|CBAS5|congenital bile acid synthesis defect type 5|ABCD3 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, type 5 OMIM:616278|DOID:0111066 owl:Class GO:0050664 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor owl:Class HGNC:11050 biolink:NamedThing SLC6A4 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002005 biolink:NamedThing concavity Surface shape that refers to the inward or outward curvature of the surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025478 biolink:NamedThing venereal tumors, veterinary Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. tmpak2llvmy_mondo_relaxed.owl transmissible venereal tumors|tumors, veterinary venereal|venereal tumors, transmissible|veterinary venereal tumor|venereal tumor, veterinary|tumors, transmissible venereal|transmissible venereal tumor|venereal tumor, transmissible|veterinary venereal tumors|tumor, transmissible venereal|tumor, veterinary venereal UMLS:C0042465|MESH:D014685 owl:Class MONDO:0025370 biolink:NamedThing urogenital neoplasm Tumors or cancer of the urogenital system in either the male or the female. tmpak2llvmy_mondo_relaxed.owl genitourinary system neoplasm|genitourinary system tumor|tumor of genitourinary system|urogenital neoplasm|genito-urinary neoplasm|genitourinary neoplasms|neoplasm of genitourinary system|neoplasms, urogenital|neoplasm, genito-urinary|genito-urinary neoplasms|neoplasms, genitourinary|neoplasms, genito-urinary|genitourinary neoplasm|neoplasm, urogenital|neoplasm, genitourinary EFO:0003863|MESH:D014565 owl:Class GO:0080134 biolink:NamedThing regulation of response to stress Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014163 biolink:NamedThing left ventricular noncompaction 10 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, 1Mm|left ventricular noncompaction 10|left ventricular noncompaction type 10|MYBPC3 left ventricular noncompaction|left ventricular noncompaction caused by mutation in MYBPC3|LVNC10 UMLS:C3715165|OMIM:615396 owl:Class MONDO:0003979 biolink:NamedThing intrahepatic bile duct cystadenoma A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm NCIT:C96835|DOID:6733|UMLS:C1334257 owl:Class MONDO:0004862 biolink:NamedThing vitreous abscess tmpak2llvmy_mondo_relaxed.owl UMLS:C0042904|ICD9:360.04|DOID:9723|SCTID:48142003 owl:Class MONDO:0012991 biolink:NamedThing Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, cataract, coloboma, and kyphosis, autosomal recessive|Kahrizi syndrome|KHRZ|intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive DOID:0050807|OMIM:612713|UMLS:CN200191|MESH:C567196|UMLS:C2675185|Orphanet:168972 owl:Class MONDO:0009524 biolink:NamedThing intellectual disability-spasticity-ectrodactyly syndrome Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). tmpak2llvmy_mondo_relaxed.owl mental retardation, spasticity and transverse limb defects|limb defects, distal transverse, with mental retardation and spasticity|ectrodactyly, spastic paraplegia and mental retardation|intellectual disability spasticity ectrodactyly|limb defects, distal transverse, with intellectual disability and spasticity|intellectual disability, spasticity and transverse limb defects|ectrodactyly, spastic paraplegia and intellectual disability|mental retardation spasticity ectrodactyly|Jancar syndrome SCTID:763743003|UMLS:C0796001|OMIM:246555|MESH:C537446|GARD:0003523|Orphanet:1891 https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly owl:Class HGNC:8907 biolink:NamedThing PGM3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019734 biolink:NamedThing juvenile polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. tmpak2llvmy_mondo_relaxed.owl juvenile PM|JPM NCIT:C114358|SCTID:738526005|ICD10:M33.2|EFO:1001988|GARD:0012742|Orphanet:93568|UMLS:C3826988 https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis owl:Class GO:1905880 biolink:NamedThing negative regulation of oogenesis Any process that stops, prevents or reduces the frequency, rate or extent of oogenesis. tmpak2llvmy_mondo_relaxed.owl downregulation of ovum development|downregulation of oogenesis|down-regulation of oogenesis|inhibition of oogenesis|down regulation of ovum development|inhibition of ovum development|down regulation of oogenesis|down-regulation of ovum development|negative regulation of ovum development owl:Class GO:0015874 biolink:NamedThing norepinephrine transport The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. tmpak2llvmy_mondo_relaxed.owl noradrenaline transport|levarterenol transport owl:Class MONDO:0000686 biolink:NamedThing alexia without agraphia Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) tmpak2llvmy_mondo_relaxed.owl alexia without Agraphias|Word blindness, Pure|Word Blindnesses, Pure|Pure alexias|Pure alexia|alexias, Pure|verbal agnosia, visual|blindness, Pure Word|Pure alexia without agraphia|Agnosias, visual verbal|without agraphia, alexia|Agraphias, alexia without|Pure Word blindness|visual verbal Agnosias|Blindnesses, Pure Word|agraphia, alexia without|alexia without agraphia|alexia syndrome without agraphia|without Agraphias, alexia|agnosia, visual verbal|visual verbal agnosia|Pure Word Blindnesses|verbal Agnosias, visual DOID:0060156|MESH:D020237 owl:Class MONDO:0016558 biolink:NamedThing familial congenital mirror movements Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. tmpak2llvmy_mondo_relaxed.owl familial congenital mirror movements|familial congenital controlateral synkinesia|hereditary congenital mirror movements|isolated congenital mirror movements|hereditary congenital controlateral synkinesia|congenital mirror movement disorder|bimanual synkinesis|isolated congenital controlateral synkinesia|congenital mirror movements|CMM SCTID:229247004|Orphanet:238722|DOID:0111153|OMIMPS:157600|GARD:0012551 MONDO:0000140 owl:Class UBERON:0005740 biolink:NamedThing tunica intima of artery A tunica intima that is part of a artery. tmpak2llvmy_mondo_relaxed.owl tunica interna (intima)(arteriae)|arterial intima owl:Class MONDO:0010734 biolink:NamedThing spatial visualization, aptitude for tmpak2llvmy_mondo_relaxed.owl visuospatial/perceptual abilities|Turner syndrome-associated Neurocognitive phenotype|spatial visualization, aptitude for MESH:C564058|OMIM:313000|UMLS:C1839262 owl:Class MONDO:0030118 biolink:NamedThing silver-russell syndrome 4 tmpak2llvmy_mondo_relaxed.owl silver-russell syndrome 4|SRS4|SILVER-RUSSELL SYNDROME 4 OMIM:618907 owl:Class MONDO:0009215 biolink:NamedThing Fanconi anemia complementation group A Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia caused by mutation in FANCA|Fanconi Anemia, Estren-Dameshek variant|Estren-Dameshek variant of Fanconi Anemia|Estren-Dameshek variant of Fanconi pancytopenia|FANCA|Fanconi anemia complementation group A|Fanconi Anemia, complementation group type a|Fanconi Anemia|Fanconi anemia complementation group type A|FANCA Fanconi anemia|Fanconi anemia, complementation group A DOID:0111095|OMIM:227650|EFO:0009044|UMLS:CN653908|GTR:AN1051558|NCIT:C125702 owl:Class GO:0002717 biolink:NamedThing positive regulation of natural killer cell mediated immunity Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl positive regulation of NK cell mediated immunity|stimulation of natural killer cell mediated immunity|up-regulation of natural killer cell mediated immunity|activation of natural killer cell mediated immunity|positive regulation of NK cell activity|positive regulation of natural killer cell activity|upregulation of natural killer cell mediated immunity|up regulation of natural killer cell mediated immunity owl:Class MONDO:0043069 biolink:NamedThing Zerres Rietschel Majewski syndrome tmpak2llvmy_mondo_relaxed.owl postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability UMLS:C2931301|GARD:0000338|MESH:C536724 owl:Class MONDO:0010743 biolink:NamedThing thrombocytopenia 1 tmpak2llvmy_mondo_relaxed.owl THC|thrombocytopenia 1|X-linked thrombocytopenia|THC1|X-linked thrombocytopenia with normal platelets|thrombocytopenia, X-linked|thrombocytopenia, X-linked, 1|thrombocytopenia, X-linked, intermittent|thrombocytopenia type 1|XLT GARD:0005176|OMIM:313900|ICD10:D69.4|UMLS:C1839163|Orphanet:852 owl:Class CHEBI:65255 biolink:NamedThing food preservative Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. tmpak2llvmy_mondo_relaxed.owl food preservatives owl:Class HP:0005599 biolink:NamedThing Hypopigmentation of hair tmpak2llvmy_mondo_relaxed.owl Loss of hair colour|Hair hypopigmentation|Loss of hair color UMLS:C3278401 human_phenotype owl:Class HP:0009887 biolink:NamedThing Abnormality of hair pigmentation An abnormality of hair pigmentation (color). tmpak2llvmy_mondo_relaxed.owl Abnormality of hair pigmentation|Abnormality of hair colour|Abnormality of hair color UMLS:C4024172 peter 2009-04-30T06:00:53Z human_phenotype owl:Class HGNC:4035 biolink:NamedThing ACKR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001288 biolink:NamedThing Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. tmpak2llvmy_mondo_relaxed.owl Gait difficulties|Abnormal walk|Impaired gait|Gait abnormalities|Gait disturbances|Abnormal gait UMLS:C0575081|SNOMEDCT_US:22325002 If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. HP:0006953 human_phenotype owl:Class UBERON:0004395 biolink:NamedThing epiphysis of first metatarsal bone An epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl first metatarsal bone epiphysis|metatarsal 1 epiphysis owl:Class CL:0002547 biolink:NamedThing fibroblast of the aortic adventitia A fibroblast of the aortic adventitia. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T04:43:41Z cell owl:Class MONDO:0005326 biolink:NamedThing sunburn An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. tmpak2llvmy_mondo_relaxed.owl MESH:D013471|EFO:0003958|ICD9:692.71|SCTID:403194002|ICD10:L55 owl:Class ENVO:01000230 biolink:NamedThing arid An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012006 biolink:NamedThing craniosynostosis with ocular abnormalities and hallucal defects tmpak2llvmy_mondo_relaxed.owl craniosynostosis with ocular abnormalities and hallucal defects UMLS:C1842316|MESH:C564263|OMIM:608279 owl:Class HP:0025354 biolink:NamedThing Abnormal cellular phenotype An anomaly of cellular morphology or physiology. tmpak2llvmy_mondo_relaxed.owl 2017-02-13 00:29:35+00:00 HPO:probinson human_phenotype owl:Class HP:0011730 biolink:NamedThing Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. tmpak2llvmy_mondo_relaxed.owl Abnormality of central sensory function UMLS:C4023215 peter 2012-04-19T07:44:18Z human_phenotype owl:Class UBERON:0003857 biolink:NamedThing upper eyelid mesenchyme Mesenchyme that is part of a developing upper eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of superior eyelid|mesenchyme of upper eyelid|superior eyelid mesenchyme owl:Class GO:0032879 biolink:NamedThing regulation of localization Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl regulation of localisation owl:Class MONDO:0011545 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 3 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, nocturnal frontal lobe, 3|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|ENFL3|epilepsy, nocturnal frontal lobe, type 3|autosomal dominant nocturnal frontal lobe epilepsy type 3|nocturnal frontal lobe epilepsy 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy DOID:0060684|UMLS:C1854335|OMIM:605375|MESH:C565334 owl:Class MONDO:0020752 biolink:NamedThing EJM1 tmpak2llvmy_mondo_relaxed.owl OMIM:254770 Editor note: see https://github.com/monarch-initiative/mondo/issues/1348 owl:Class HP:0000593 biolink:NamedThing Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. tmpak2llvmy_mondo_relaxed.owl Abnormality of the anterior chamber|Ocular anterior chamber abnormality|Anterior chamber anomalies UMLS:C3152182|SNOMEDCT_US:204142009 human_phenotype owl:Class GO:1905292 biolink:NamedThing regulation of neural crest cell differentiation Any process that modulates the frequency, rate or extent of neural crest cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017589 biolink:NamedThing follicular cholangitis and pancreatitis Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. tmpak2llvmy_mondo_relaxed.owl follicular pancreatocholangitis Orphanet:300552 owl:Class NCBITaxon:216275 biolink:NamedThing Vetigastropoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019902 biolink:NamedThing monosomy 13q34 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl Del(13)(q34)|subtelomeric deletion 13q34|distal deletion 13q34|monosomy type 13q34 ICD10:Q93.5|Orphanet:96168|SCTID:766716004 owl:Class MONDO:0001886 biolink:NamedThing midline cystocele tmpak2llvmy_mondo_relaxed.owl ICD10:N81.11|ICD9:618.01|SCTID:423633003|UMLS:C1456248|DOID:14131 owl:Class MONDO:0001592 biolink:NamedThing prolapse of female genital organ tmpak2llvmy_mondo_relaxed.owl ICD9:618.89|SCTID:73998008|DOID:1284|UMLS:C0156349|ICD10:N81|ICD9:618.8 Editor note: requires review owl:Class MONDO:0007537 biolink:NamedThing lateral meningocele syndrome tmpak2llvmy_mondo_relaxed.owl lateral meningocele syndrome|LMNS|Lms|Lehman syndrome MESH:C537878|Orphanet:2789|DOID:0111343|OMIM:130720|GARD:0009873|UMLS:C1851710|ICD10:Q87.5 owl:Class HGNC:15808 biolink:NamedThing GZF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001022 biolink:NamedThing disuse amblyopia tmpak2llvmy_mondo_relaxed.owl deprivation amblyopia ICD9:368.02|UMLS:C0152189|ICD10:H53.01|SCTID:193638002|DOID:10378 owl:Class UBERON:0012344 biolink:NamedThing holocrine gland any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016587 biolink:NamedThing arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. tmpak2llvmy_mondo_relaxed.owl ARVC cardiomyopathy|arrhythmogenic right ventricular dysplasia/cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic RVD|right ventricular dysplasia|arrhythmogenic right ventricular dysplasia|ARVC|ARVD UMLS:CN221565|UMLS:CN239850|MESH:D019571|GARD:0005847|UMLS:C0349788|MedDRA:10058093|DOID:0050431|ICD10:I42.8|ICD9:425.4|SCTID:281170005|Orphanet:247|NCIT:C84571 owl:Class HGNC:23452 biolink:NamedThing LIPN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5144 biolink:NamedThing HPCA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001228 biolink:NamedThing DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. tmpak2llvmy_mondo_relaxed.owl transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, metal ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|metal ion regulated sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcriptional activator activity, zinc ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, zinc ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, metal ion regulated core promoter proximal region sequence-specific binding|transcriptional activator activity, metal ion regulated sequence-specific DNA binding|proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|RNA polymerase II transcriptional activator activity, copper ion regulated proximal promoter sequence-specific DNA binding owl:Class MONDO:0017849 biolink:NamedThing Siegler-Brewer-Carey syndrome Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. tmpak2llvmy_mondo_relaxed.owl fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys|Siegler Brewer Carey syndrome SCTID:721076000|UMLS:C2931473|GARD:0004867|Orphanet:3167|MESH:C537335 https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome owl:Class NCBITaxon:11653 biolink:NamedThing Ovine/caprine lentivirus group tmpak2llvmy_mondo_relaxed.owl Ovine/caprine lentiviruses|Ovine/caprine lentivirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004292 biolink:NamedThing supraglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. tmpak2llvmy_mondo_relaxed.owl supraglottis verrucous carcinoma|verrucous carcinoma of supraglottis|supraglottic verrucous carcinoma|verrucous carcinoma of the supraglottis|supraglottic part of larynx verrucous carcinoma NCIT:C8191|DOID:7586|UMLS:C0280331 owl:Class MONDO:0020789 biolink:NamedThing pseudo-TORCH syndrome 1 tmpak2llvmy_mondo_relaxed.owl pseudo-TORCH syndrome|PTORCH1|pseudo-TORCH syndrome type 1|pseudo-TORCH syndrome 1 OMIM:251290 owl:Class MONDO:0010625 biolink:NamedThing immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein tmpak2llvmy_mondo_relaxed.owl Gpl115 deficiency|immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein OMIM:308220|MESH:C564120|UMLS:C1839982 owl:Class GO:0016445 biolink:NamedThing somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins. tmpak2llvmy_mondo_relaxed.owl somatic diversification of antibodies owl:Class MONDO:0021588 biolink:NamedThing eyelid sebaceous gland carcinoma A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases. tmpak2llvmy_mondo_relaxed.owl eyelid SGC|sebaceous gland carcinoma of the eyelid|sebaceous gland of eyelid carcinoma|carcinoma of sebaceous gland of eyelid|eyelid sebaceous gland carcinoma UMLS:C4525405|NCIT:C134831 owl:Class GO:0031301 biolink:NamedThing integral component of organelle membrane The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl integral to organelle membrane owl:Class HGNC:17233 biolink:NamedThing ELMO2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:52564 biolink:NamedThing Oesophagostomum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2572478 biolink:NamedThing Oesophagostominae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010176 biolink:NamedThing orofaciodigital syndrome type 6 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. tmpak2llvmy_mondo_relaxed.owl polydactyly - cleft lip/palate - psychomotor retardation|polydactyly cleft lip palate psychomotor retardation|Joubert syndrome with orofaciodigital defect|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|Ofds 6|orofaciodigital syndrome type 6|oral-facial-digital syndrome type 6|Váradi-Papp syndrome|Varadi syndrome|Joubert syndrome with oral-facial-digital syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|oral-Facial-digital syndrome, type 6|orofaciodigital syndrome 6|orofaciodigital syndrome VI|OFD6|Váradi syndrome|Varadi-Papp syndrome MESH:C536531|Orphanet:2754|GARD:0004412|UMLS:C2745997|ICD10:Q04.3|SCTID:721873007|OMIM:277170|NCIT:C124841|DOID:0060376 https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation owl:Class MONDO:0021071 biolink:NamedThing laryngeal neoplasm A benign or malignant neoplasm involving the larynx. tmpak2llvmy_mondo_relaxed.owl larynx tumor|tumor of larynx|neoplasm of the larynx|laryngeal neoplasm|neoplasm of larynx|laryngeal tumor|larynx neoplasm|tumor of the larynx|larynx neoplasm (disease) UMLS:C0023055|EFO:0003817|NCIT:C3156|SCTID:126692004|MESH:D007822 owl:Class MONDO:0013368 biolink:NamedThing mammary-digital-nail syndrome Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. tmpak2llvmy_mondo_relaxed.owl MDN syndrome|mammary-digital-nail syndrome|MDNS|onycho-digito-mammary syndrome Orphanet:238744|ICD10:Q87.2|OMIM:613689|UMLS:C3150946|SCTID:718679004 owl:Class MONDO:0015852 biolink:NamedThing excess breast volume or number tmpak2llvmy_mondo_relaxed.owl Orphanet:180170 owl:Class MONDO:0007852 biolink:NamedThing palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. tmpak2llvmy_mondo_relaxed.owl palmoplantar hyperkeratosis-hearing loss syndrome|palmoplantar hyperkeratosis-deafness syndrome|keratoderma, palmoplantar, with deafness|palmoplantar keratoderma-hearing loss syndrome|hereditary palmoplantar keratoderma with deafness (subtype)|diffuse palmoplantar keratoderma with deafness (subtype)|keratoderma palmoplantar, with deafness|focal palmoplantar keratoderma with sensorineural deafness (subtype)|palmoplantar keratoderma and sensorineural deafness|PPK-deafness syndrome|keratoderma palmoplantar deafness Orphanet:2202|MESH:C536152|UMLS:C1835672|OMIM:148350|DOID:0111505|GARD:0003094|ICD10:Q82.8 owl:Class MONDO:0032832 biolink:NamedThing intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies tmpak2llvmy_mondo_relaxed.owl IDNADFS|Chromosome 12Q15 Deletion Syndrome|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES OMIM:618608 owl:Class MONDO:0008477 biolink:NamedThing spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. tmpak2llvmy_mondo_relaxed.owl SmD, Kozlowski type|Jequier Kozlowski skeletal dysplasia|SmD Kozlowski type|spondylometaphyseal dysplasia, Kozlowski type|skeletal dysplasia Jequier-Kozlowski type|Jequier-Kozlowski syndrome|SMDK|Dysmorphism arthrogryposis skeletal maturation advanced Orphanet:93314|ICD10:Q77.8|OMIM:184252|DOID:0111554|MESH:C535797|GARD:0003047 https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type owl:Class MONDO:0017251 biolink:NamedThing congenital pulmonary airway malformation type 3 tmpak2llvmy_mondo_relaxed.owl congenital cystic adenomatoid malformation of the lung type 3|CPAM type 3|CCAM type 3|congenital cystic disease of the lung type 3|congenital cystic adenomatous malformation of the lung type 3 ICD10:Q33.0|Orphanet:280847 owl:Class GO:1902224 biolink:NamedThing ketone body metabolic process The chemical reactions and pathways involving ketone body. tmpak2llvmy_mondo_relaxed.owl ketone body metabolism owl:Class MONDO:0008506 biolink:NamedThing symphalangism of toes tmpak2llvmy_mondo_relaxed.owl symphalangism of toes UMLS:C1861418|MESH:C566101|OMIM:185600 owl:Class UBERON:0035267 biolink:NamedThing neck of gallbladder The narrowest portion of the gallbladder and distal to the cystic duct. tmpak2llvmy_mondo_relaxed.owl gallbladder neck|cervix of gallbladder owl:Class MONDO:0016974 biolink:NamedThing thymoma type B An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma. tmpak2llvmy_mondo_relaxed.owl epithelioid thymoma|dendritic cell thymoma (disease)|primary thymic epithelial neoplasm type B|primary thymic epithelial tumor type B|plump cell thymoma|Dendritic cell thymoma|dendritic cell thymoma|thymoma type B DOID:3282|ICD10:C37|NCIT:C7114|ICD10:D15.0|Orphanet:263317|UMLS:C1328042|UMLS:CN202276 owl:Class MONDO:0017318 biolink:NamedThing phakomatosis pigmentovascularis tmpak2llvmy_mondo_relaxed.owl port-wine stain with oculocutaneous melanosis|PPv|association of cutaneous vascular malformations and different pigmentary disorders|phakomatosis pigmentovascularis|Phacomatosis pigmentovascularis GARD:0004312|ICD9:709.09|MESH:C537894|Orphanet:2875|ICD10:Q85.8|SCTID:403545005 owl:Class MONDO:0015069 biolink:NamedThing neuroendocrine tumor of the anal canal A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. tmpak2llvmy_mondo_relaxed.owl anal NET|NET of anal canal|NET of the anal canal|neuroendocrine tumor of anal canal|anal Neuroendocrine tumor|anal canal neuroendocrine tumor|neuroendocrine neoplasm of the anal canal|anal canal well differentiated tumor/carcinoma|anal canal well differentiated tumor|anal canal neuroendocrine neoplasm|anal canal NET Orphanet:100082|NCIT:C96540|UMLS:CN197362 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0018822 biolink:NamedThing global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). tmpak2llvmy_mondo_relaxed.owl UMLS:CN776946|Orphanet:480898 owl:Class GO:0008047 biolink:NamedThing enzyme activator activity Binds to and increases the activity of an enzyme. tmpak2llvmy_mondo_relaxed.owl metalloenzyme activator activity owl:Class MONDO:0009048 biolink:NamedThing curved nail of fourth toe tmpak2llvmy_mondo_relaxed.owl claw-like fingers and toes|curved nail of fourth toe OMIM:219070 owl:Class GO:1902850 biolink:NamedThing microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis. tmpak2llvmy_mondo_relaxed.owl microtubule dynamics involved in mitosis|microtubule cytoskeleton organisation involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis owl:Class MONDO:0008101 biolink:NamedThing familial supernumerary nipples Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. tmpak2llvmy_mondo_relaxed.owl nipples, supernumerary|polymastia|accessory nipples|polythelia, familial|isolated polythelia Orphanet:2456|OMIM:163700|ICD10:Q83.3 owl:Class MONDO:0013716 biolink:NamedThing aortic aneurysm, familial abdominal, 4 tmpak2llvmy_mondo_relaxed.owl AAA4|aortic aneurysm, familial abdominal, 4 OMIM:614375|UMLS:C3280597 owl:Class MONDO:0007031 biolink:NamedThing familial abdominal aortic aneurysm An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm, familial abdominal|hereditary abdominal aortic aneurysm Orphanet:86|SCTID:715364001|UMLS:CN206207|UMLS:C4275172|ICD10:I71.4|OMIMPS:100070|GARD:0009181 owl:Class MONDO:0008816 biolink:NamedThing Chiari malformation type II Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. tmpak2llvmy_mondo_relaxed.owl Arnold-Chiari malformation type 2|Chiari malformation type 2|Chiari malformation type II|Chiari type II malformation|Arnold-Chiari malformation|Cm2|Arnold Chiari malformation type II|Arnold-Chiari malformation type II OMIM:207950|ICD10:Q07.0|Orphanet:1136|GARD:0009232|SCTID:373587001|MedDRA:10056945 owl:Class MONDO:0012499 biolink:NamedThing Buruli ulcer, susceptibility to tmpak2llvmy_mondo_relaxed.owl BUD|Buruli ulcer, susceptibility to|Mycobacterium ulcerans, susceptibility to GARD:0009520|OMIM:610446 owl:Class MONDO:0014186 biolink:NamedThing retinitis pigmentosa with or without situs inversus Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene. tmpak2llvmy_mondo_relaxed.owl ARL2BP retinitis pigmentosa|retinitis pigmentosa caused by mutation in ARL2BP|retinitis pigmentosa with or without situs inversus ICD10:H35.5|DOID:0110419|OMIM:615434|UMLS:C3809503 owl:Class UBERON:0010276 biolink:NamedThing space in vertebral column Any anatomical space that is part of a vertebral column. tmpak2llvmy_mondo_relaxed.owl vertebral column opening|vertebral conduit owl:Class MONDO:0021528 biolink:NamedThing benign neoplasm of male breast A non-metastasizing neoplasm that arises from the breast parenchyma in males. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the Male breast|benign Male breast tumor|male breast benign neoplasm|benign Male breast neoplasm|benign tumor of the Male breast|benign tumor of Male breast UMLS:C0347482|NCIT:C4620|SCTID:92206006 owl:Class NCBITaxon:816 biolink:NamedThing Bacteroides tmpak2llvmy_mondo_relaxed.owl Ristella|Capsularis GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:815 biolink:NamedThing Bacteroidaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:8300528 ncbi_taxonomy owl:Class MONDO:0054559 biolink:NamedThing congenital disorder of glycosylation, type IIq tmpak2llvmy_mondo_relaxed.owl CDG2Q|CDG Iiq|COG2-CDG|COG2-related congenital disorder of glycosylation ICD10:E77.8|UMLS:C4479353|Orphanet:435934|DOID:0070269|OMIM:617395 owl:Class MONDO:0012094 biolink:NamedThing prostate cancer, hereditary, 4 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 4|prostate cancer, hereditary, 4|HPC4|prostate cancer, hereditary, on chromosome 7 UMLS:C1837593|MESH:C563882|OMIM:608658 owl:Class HGNC:2364 biolink:NamedThing CRLF1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17642 biolink:NamedThing DCLRE1C tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003676 biolink:NamedThing nucleic acid binding Binding to a nucleic acid. tmpak2llvmy_mondo_relaxed.owl base pairing owl:Class MONDO:0018831 biolink:NamedThing HTRA1-related cerebral small vessel disease tmpak2llvmy_mondo_relaxed.owl HTRA1-related cerebral angiopathy Orphanet:482072|UMLS:CN776824 owl:Class MONDO:0007422 biolink:NamedThing keratoderma hereditarium mutilans tmpak2llvmy_mondo_relaxed.owl VOWNKL|KHM|Vohwinkel syndrome|PPK mutilans and deafness|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes|mutilating keratoderma|keratoderma hereditarium mutilans|mutilating keratoderma plus deafness|mutilating keratoderma of Vohwinkel Orphanet:494|GARD:0003092|SCTID:24559001|OMIM:124500|ICD9:757.39|MESH:C536457|ICD10:Q82.8|DOID:0111339 owl:Class MONDO:0017670 biolink:NamedThing autosomal dominant diffuse mutilating palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl autosomal dominant diffuse mutilating palmoplantar hyperkeratosis UMLS:CN229100|ICD10:Q82.8|Orphanet:307773 owl:Class MONDO:0017963 biolink:NamedThing 46,XX disorder of sex development induced by endogenous maternal-derived androgen tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by endogenous maternal-derived androgen ICD10:Q56.2|UMLS:CN227227|Orphanet:325093 owl:Class MONDO:0019608 biolink:NamedThing 46,XX disorder of sex development induced by maternal-derived androgen tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by maternal-derived androgen Orphanet:91144|ICD10:Q56.2|UMLS:CN227662 owl:Class HGNC:1857 biolink:NamedThing CENPF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016845 biolink:NamedThing 21q22.11q22.12 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 21q22.11q22.12|monosomy 21q22.11-q22.12|Del(21)(q22.11q22.12)|21q22.11-q22.12 microdeletion syndrome ICD10:Q93.5|Orphanet:261323|UMLS:CN202185 owl:Class GO:0070013 biolink:NamedThing intracellular organelle lumen An organelle lumen that is part of an intracellular organelle. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4964 biolink:NamedThing HLA-G tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:424551 biolink:NamedThing Solanoideae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4070 biolink:NamedThing Solanaceae tmpak2llvmy_mondo_relaxed.owl nightshade family GC_ID:1 NCBITaxon:40319 ncbi_taxonomy owl:Class CL:0002177 biolink:NamedThing folliculostellate cell of pars distalis of adenohypophysis A supporting cell of the anterior pituitary gland involved in trophic and catabolic processes; expresses a broad spectrum of cytokeratins indicative of their epithelial nature. tmpak2llvmy_mondo_relaxed.owl folliculostellate cell of pars anterior of adenohypophysis FMA:83102 tmeehan 2010-08-25T03:10:10Z cell owl:Class MONDO:0012794 biolink:NamedThing ANE syndrome ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. tmpak2llvmy_mondo_relaxed.owl anes|alopecia, neurologic defects, and endocrinopathy syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome|ANE syndrome Orphanet:157954|OMIM:612079|MESH:C567425|UMLS:C2677535 owl:Class MONDO:0015590 biolink:NamedThing classic paraneoplastic limbic encephalitis Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed. tmpak2llvmy_mondo_relaxed.owl classic paraneoplastic limbic encephalitis, with or without intracellular antigens Orphanet:163898|ICD10:G13.1 owl:Class MONDO:0015026 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 2 Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene. tmpak2llvmy_mondo_relaxed.owl STN1 Coats plus syndrome|Coats plus syndrome caused by mutation in STN1|cerebroretinal microangiopathy with calcifications and cysts 2|cerebroretinal microangiopathy with calcifications and cysts type 2|CRMCC2 OMIM:617341|UMLS:CN240513 owl:Class HGNC:9921 biolink:NamedThing RBP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009373 biolink:NamedThing seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. tmpak2llvmy_mondo_relaxed.owl hydroxylysinuria OMIM:236900|UMLS:C1855986|Orphanet:79156|MESH:C565502|ICD10:E72.3 owl:Class MONDO:0012553 biolink:NamedThing cerebrooculofacioskeletal syndrome 2 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. tmpak2llvmy_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 2|COFS2|COFS syndrome caused by mutation in ERCC2|cerebrooculofacioskeletal syndrome 2|ERCC2 COFS syndrome UMLS:C1853102|MESH:C565185|OMIM:610756 owl:Class HP:0001300 biolink:NamedThing Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. tmpak2llvmy_mondo_relaxed.owl Parkinsonian disease MSH:D020734|SNOMEDCT_US:32798002|UMLS:C0242422 human_phenotype owl:Class HP:0002071 biolink:NamedThing Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). tmpak2llvmy_mondo_relaxed.owl Extrapyramidal tract signs|Extrapyramidal dysfunction|Extrapyramidal syndrome|Extrapyramidal symptoms|Extrapyramidal signs UMLS:C0234133|MSH:D001480|SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003 The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. HP:0007113|HP:0006810 human_phenotype owl:Class MONDO:0009899 biolink:NamedThing polyhydramnios, chronic idiopathic tmpak2llvmy_mondo_relaxed.owl Lactogen receptor defect of chorion|polyhydramnios, chronic idiopathic OMIM:263610|UMLS:C1849720|MESH:C564876 owl:Class MONDO:0018553 biolink:NamedThing urachal diverticulum Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. tmpak2llvmy_mondo_relaxed.owl Vesicourachal diverticulum UMLS:CN237554|SCTID:253899000|Orphanet:431347|NCIT:C123254|ICD10:Q64.4 owl:Class MONDO:0011082 biolink:NamedThing oculoauriculofrontonasal syndrome tmpak2llvmy_mondo_relaxed.owl oculoauriculofrontonasal dysplasia|OAFNS|OCULOAURICULOFRONTONASAL syndrome|oculoauriculofrontonasal syndrome ICD10:Q87.0|Orphanet:398156|GARD:0004031|UMLS:C1832352|OMIM:601452|MESH:C537865 https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome owl:Class MONDO:0010114 biolink:NamedThing thanatophoric dysplasia, Glasgow variant tmpak2llvmy_mondo_relaxed.owl thanatophoric dysplasia, Glasgow variant|neonatally lethal short-limb skeletal dysplasia, Glasgow type UMLS:C1848865|Orphanet:93275|MESH:C536506|OMIM:273680 owl:Class CHEBI:35692 biolink:NamedThing dicarboxylic acid Any carboxylic acid containing two carboxy groups. tmpak2llvmy_mondo_relaxed.owl Dicarboxylic acid|dicarboxylic acids owl:Class MONDO:0007905 biolink:NamedThing lip, hamartomatous tmpak2llvmy_mondo_relaxed.owl enlargement of Lower lip|lip, hamartomatous OMIM:151640|UMLS:C1835395|MESH:C563621 owl:Class MONDO:0011239 biolink:NamedThing colobomatous macrophthalmia-microcornea syndrome tmpak2llvmy_mondo_relaxed.owl MACOM syndrome|MACOM|macrophthalmia, colobomatous, with microcornea Orphanet:468672|UMLS:C1865286|MESH:C566533|OMIM:602499 owl:Class MONDO:0016874 biolink:NamedThing partial deletion of chromosome 9 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 9|partial monosomy of chromosome 9 ICD10:Q93.5|Orphanet:261806 owl:Class HGNC:14255 biolink:NamedThing BRPF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019730 biolink:NamedThing light chain deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. tmpak2llvmy_mondo_relaxed.owl Light-chain deposition disease|Light chain disease|LCDD|Bence Jones myeloma|Light chain gammopathy Orphanet:93558|NCIT:C7727|UMLS:C0238239|ICD10:D89.8|GARD:0006906|SCTID:373604002 https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease owl:Class GO:0015106 biolink:NamedThing bicarbonate transmembrane transporter activity Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000119 biolink:NamedThing cell layer Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. tmpak2llvmy_mondo_relaxed.owl layer of cells|layer|cell sheath|sheath of cells owl:Class HP:0003826 biolink:NamedThing Stillbirth Death of the fetus in utero after at least 20 weeks of gestation. tmpak2llvmy_mondo_relaxed.owl Fetal death|Stillborn|Foetal death|Stillbirth SNOMEDCT_US:237364002|SNOMEDCT_US:276507005|UMLS:C0015927|MSH:D005313|MSH:D050497|UMLS:C0595939 HP:0001624|HP:0001625 human_phenotype owl:Class HP:0011420 biolink:NamedThing Age of death The age group when the cessation of life happens. tmpak2llvmy_mondo_relaxed.owl UMLS:C1546180 human_phenotype owl:Class MONDO:0011462 biolink:NamedThing pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. tmpak2llvmy_mondo_relaxed.owl papa|familial recurrent arthritis|fra|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|Papas|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|pyogenic arthritis, pyoderma gangrenosum and acne|papa syndrome SCTID:724015007|MESH:C536253|NCIT:C119055|Orphanet:69126|DOID:0080519|GARD:0009176|UMLS:C1858361|OMIM:604416 owl:Class MONDO:0017635 biolink:NamedThing parkinsonian syndrome due to neurodegenerative disease tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:306666|UMLS:CN203530 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: parkinsonian disorder' MONDO_0021095 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0032761 biolink:NamedThing deafness, autosomal recessive 114 tmpak2llvmy_mondo_relaxed.owl DEAFNESS, AUTOSOMAL RECESSIVE 114|DFNB114 DOID:0111642|OMIM:618456 owl:Class MONDO:0005673 biolink:NamedThing blind loop syndrome A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. tmpak2llvmy_mondo_relaxed.owl blind loop syndrome|bacterial overgrowth syndrome|stasis syndrome|stasis (blind loop) syndrome MESH:D001765|ICD9:579.2|UMLS:C0005750|SCTID:66379009|EFO:0007175|ICD10:K90.2|NCIT:C34431|DOID:10606 owl:Class MONDO:0013087 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 2 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene. tmpak2llvmy_mondo_relaxed.owl SCNN1A bronchiectasis|bronchiectasis caused by mutation in SCNN1A|cystic fibrosis-like syndrome|BESC2|bronchiectasis with or without elevated sweat chloride 2|bronchiectasis with or without elevated sweat chloride type 2 UMLS:C2751666|MESH:C567813|OMIM:613021|DOID:0080527 owl:Class HGNC:12404 biolink:NamedThing TTPA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002420 biolink:NamedThing tic disorder Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) tmpak2llvmy_mondo_relaxed.owl ICD10:F95.9|ICD10:F95|ICD9:307.20|ICD9:307.2|SCTID:568005|MESH:D013981|DOID:2769 owl:Class MONDO:0005145 biolink:NamedThing sporadic amyotrophic lateral sclerosis Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. tmpak2llvmy_mondo_relaxed.owl EFO:0001357 owl:Class MONDO:0010908 biolink:NamedThing loose anagen syndrome Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. tmpak2llvmy_mondo_relaxed.owl loose anagen hair syndrome MESH:D058247|UMLS:C0406468|GARD:0003287|Orphanet:168|SCTID:238735005|ICD10:L65.1|ICD9:704.8|DOID:0111702|OMIM:600628 owl:Class MONDO:0011471 biolink:NamedThing inflammatory bowel disease 3 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3. tmpak2llvmy_mondo_relaxed.owl IBD3|inflammatory bowel disease type 3|inflammatory bowel disease 3 OMIM:604519|DOID:0110891|MESH:C565764|UMLS:C1858303 owl:Class MONDO:0016196 biolink:NamedThing qualitative or quantitative defects of emerin tmpak2llvmy_mondo_relaxed.owl Orphanet:209188 owl:Class HGNC:4678 biolink:NamedThing GUCA1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018255 biolink:NamedThing spondylometaphyseal dysplasia, Czarny-Ratajczak type tmpak2llvmy_mondo_relaxed.owl Orphanet:370019|ICD10:Q77.8 owl:Class MONDO:0044342 biolink:NamedThing thoracic disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. tmpak2llvmy_mondo_relaxed.owl degeneration of thoracic intervertebral disc|thoracic Disc degenerative disorder|thoracic Disc degenerative disease|thoracic Disc Degeneration|thoracic region of vertebral column intervertebral disc degenerative disorder|intervertebral disc degenerative disorder of thoracic region of vertebral column SCTID:68675004|UMLS:C0263872|NCIT:C27155 owl:Class MONDO:0015843 biolink:NamedThing uterine hypoplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:180139|ICD10:Q51.8|MedDRA:10063146 owl:Class MONDO:0019814 biolink:NamedThing straddling or overriding tricuspid valve Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:95461 owl:Class GO:0008119 biolink:NamedThing thiopurine S-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. tmpak2llvmy_mondo_relaxed.owl thiopurine methyltransferase activity|TPMT|mercaptopurine methyltransferase activity|6-thiopurine transmethylase activity|S-adenosyl-L-methionine:thiopurine S-methyltransferase activity owl:Class HP:0010468 biolink:NamedThing Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. tmpak2llvmy_mondo_relaxed.owl Absent/small testes|Absent/underdeveloped testes UMLS:C4023817 peter 2009-09-15T09:28:46Z human_phenotype owl:Class GO:0032811 biolink:NamedThing negative regulation of epinephrine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of epinephrine. tmpak2llvmy_mondo_relaxed.owl negative regulation of adrenaline secretion|inhibition of epinephrine secretion|down regulation of epinephrine secretion|downregulation of epinephrine secretion|down-regulation of epinephrine secretion owl:Class NCBITaxon:6251 biolink:NamedThing Ascaris tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0000215 biolink:NamedThing barrier cell A cell whose primary function is to prevent the transport of stuff across compartments. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0007938 biolink:NamedThing 46,XY sex reversal 4 Sex reversal in an individual associated with a 9p24.3 deletion. tmpak2llvmy_mondo_relaxed.owl 46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|46,XY SEX reversal 4|chromosome 9P24.3 deletion syndrome|SRXY4|46,XY sex reversal 4|46,XY Sex reversal type 4 NCIT:C132270|DOID:0111771|OMIM:154230|MESH:C567887 owl:Class MONDO:0019168 biolink:NamedThing pyomyositis Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. tmpak2llvmy_mondo_relaxed.owl PM|tropical pyomyositis|myositis purulenta tropica|suppurative myositis|myositis tropicans NCIT:C128382|SCTID:65110003|MedDRA:10037652|ICD10:M60.0|GARD:0004614|EFO:1001409|UMLS:C1704275|DOID:876|ICD9:040.81|UMLS:C0041188|Orphanet:764|MESH:D052880 https://rarediseases.info.nih.gov/diseases/4614/pyomyositis owl:Class UBERON:0009745 biolink:NamedThing lymph node medullary cord The dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node tmpak2llvmy_mondo_relaxed.owl medullary cord owl:Class CHEBI:76710 biolink:NamedThing EC 4.* (lyase) inhibitor An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation. tmpak2llvmy_mondo_relaxed.owl EC 4.* inhibitor|EC 4.* (lyase) inhibitors|EC 4.* inhibitors|lyase inhibitors|EC 4.*.*.* inhibitors|lyase inhibitor|lyase (EC 4.*) inhibitorS|lyase (EC 4.*) inhibitor|EC 4.*.*.* inhibitor owl:Class MONDO:0010115 biolink:NamedThing thoracic dysplasia-hydrocephalus syndrome tmpak2llvmy_mondo_relaxed.owl thoracic dysplasia hydrocephalus syndrome|thoracic dysplasia-hydrocephalus syndrome Orphanet:1861|OMIM:273730|ICD10:Q87.8|MESH:C564774|UMLS:C1848864|GARD:0005180 https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome owl:Class MONDO:0005824 biolink:NamedThing Legionnaires' disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. tmpak2llvmy_mondo_relaxed.owl infection by Legionella pneumophilia|Legionella|legionnaire's disease|Legionella pneumonia MESH:D007877|NCIT:C128339|EFO:0007343|DOID:10457|SCTID:195889001|ICD9:482.84|ICD10:A48.1 owl:Class MONDO:0004695 biolink:NamedThing liver lymphoma A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. tmpak2llvmy_mondo_relaxed.owl lymphoma of liver|hepatic lymphoma|primary hepatic lymphoma|liver lymphoma|lymphoma of the liver|primary liver lymphoma NCIT:C4949|DOID:901|UMLS:C1112746 owl:Class HGNC:17318 biolink:NamedThing RXFP2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015888 biolink:NamedThing thiamine transport The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. tmpak2llvmy_mondo_relaxed.owl thiamin transport|vitamin B1 transport owl:Class PATO:0010006 biolink:NamedThing cell morphology A quality of a single cell inhering in the bearer by virtue of the bearer's size or shape or structure. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005243 biolink:NamedThing interventricular septum endocardium An endocardium that is part of a interventricular septum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl endocardium of interventricular septum|interventricular septum endocardial tissue owl:Class MONDO:0008818 biolink:NamedThing arterial tortuosity syndrome Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. tmpak2llvmy_mondo_relaxed.owl ATS|arterial tortuosity|arterial tortuosity syndrome MESH:C565942|SCTID:458432002|Orphanet:3342|ICD10:Q87.82|DOID:0050645|ICD10:I77.1|UMLS:C1859726|GARD:0000774|OMIM:208050 owl:Class GO:1903522 biolink:NamedThing regulation of blood circulation Any process that modulates the frequency, rate or extent of blood circulation. tmpak2llvmy_mondo_relaxed.owl regulation of hemolymph circulation owl:Class MONDO:0021121 biolink:NamedThing hemangioendothelioma A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. tmpak2llvmy_mondo_relaxed.owl angioendothelioma|hemangioendothelioma GARD:0006557|UMLS:C0018915|NCIT:C3084|MESH:D006390|SCTID:403980002|ICDO:9130/1 https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma owl:Class MONDO:0032753 biolink:NamedThing spastic ataxia 9, autosomal recessive tmpak2llvmy_mondo_relaxed.owl SPAX9|SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE OMIM:618438 owl:Class MONDO:0017845 biolink:NamedThing spastic ataxia tmpak2llvmy_mondo_relaxed.owl SPAX ICD10:G11.4|UMLS:C1849156|OMIMPS:108600|MESH:C564815|DOID:0050952|Orphanet:316226 owl:Class MONDO:0003104 biolink:NamedThing epicardium cancer A malignant neoplasm involving the epicardium. tmpak2llvmy_mondo_relaxed.owl malignant epicardial neoplasm|cancer of epicardium|malignant neoplasm of epicardium|malignant epicardium neoplasm|malignant tumor of the epicardium|malignant neoplasm of the epicardium|epicardial tumor|epicardium cancer|malignant tumor of epicardium|malignant epicardial tumor NCIT:C4568|DOID:4699|UMLS:C2607932 owl:Class MONDO:0021654 biolink:NamedThing diffuse cutaneous mucinosis tmpak2llvmy_mondo_relaxed.owl ICD9:701.8|UMLS:C0406655|SCTID:238945000 owl:Class NCBITaxon:9903 biolink:NamedThing Bos tmpak2llvmy_mondo_relaxed.owl oxen, cattle GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017132 biolink:NamedThing hereditary ATTR amyloidosis tmpak2llvmy_mondo_relaxed.owl familial transthyretin-related amyloidosis|familial TTR-related amyloidosis|hereditary ATTR amyloidosis Orphanet:271861|UMLS:CN227096 owl:Class UBERON:0011877 biolink:NamedThing margin of tongue The lateral border that separates the dorsum from the inferior surface of the tongue on each side, the two borders meeting anteriorly at the apex.. tmpak2llvmy_mondo_relaxed.owl margo linguae|tongue margin owl:Class NCBITaxon:83141 biolink:NamedThing Parasitengona tmpak2llvmy_mondo_relaxed.owl Parasitengonae|velvet mites GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017372 biolink:NamedThing congenital varicella syndrome Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. tmpak2llvmy_mondo_relaxed.owl fetal effects of chickenpox|fetal varicella zoster syndrome|antenatal varicella virus infection|Varicella embryopathy|fetal varicella infection|fetal effects of varicella zoster virus|Varicella virus antenatal infection|mother-to-child transmission of varicella syndrome GARD:0000045|Orphanet:291|NCIT:C116800|SCTID:277644009|ICD10:P35.8|UMLS:C0343560|ICD9:771.2 https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome owl:Class GO:0010512 biolink:NamedThing negative regulation of phosphatidylinositol biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008421 biolink:NamedThing flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. tmpak2llvmy_mondo_relaxed.owl Simosa cranio facial syndrome|SIMOSA craniofacial syndrome|blepharophimosis-telecanthus-microstomia syndrome|Simosa-Penchaszadeh-Bustos syndrome UMLS:C1866962|GARD:0004873|ICD10:Q87.0|Orphanet:1968|MESH:C537339|OMIM:182150 owl:Class MONDO:0004397 biolink:NamedThing benign mediastinal psammomatous neurilemmoma A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. tmpak2llvmy_mondo_relaxed.owl benign psammomatous schwannoma of mediastinum|benign psammomatous neurilemmoma of mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous neurilemmoma of the mediastinum|benign psammomatous schwannoma of the mediastinum UMLS:C1332513|NCIT:C6636|DOID:7921 owl:Class UBERON:0005899 biolink:NamedThing pes bone A bone that is part of the pes skeleton tmpak2llvmy_mondo_relaxed.owl foot bone|bone of foot|bone of pedal skeleton|bone of foor proper or tarsal skeleton|bone of pes owl:Class MONDO:0016506 biolink:NamedThing ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. tmpak2llvmy_mondo_relaxed.owl Extra-adrenal aldosterone-producing tumor ICD10:E26.8|UMLS:CN201515|Orphanet:231632 owl:Class MONDO:0004591 biolink:NamedThing impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. tmpak2llvmy_mondo_relaxed.owl ICD9:694.3|ICD10:L40.1|UMLS:C1314968|SCTID:65539006|EFO:1000715|DOID:8503 owl:Class MONDO:0016344 biolink:NamedThing hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl Hydroanencephaly|hydranencephaly|hydranencephaly (disease) hydranencephaly (disease) MESH:D006832|SCTID:30023002|ICD10:Q04.3|NCIT:C98949|GARD:0006681|Orphanet:2177|DOID:4626|HP:0002324|UMLS:C0020225 owl:Class MONDO:0007428 biolink:NamedThing deafness-craniofacial syndrome Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl deafness craniofacial syndrome|deafness-craniofacial syndrome GARD:0001686|OMIM:125230|ICD10:Q87.0|UMLS:C1852278|MESH:C565118|Orphanet:3241|SCTID:716245003 https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome owl:Class MONDO:0019897 biolink:NamedThing distal monosomy 12q tmpak2llvmy_mondo_relaxed.owl telomeric deletion 12q|distal monosomy type 12q|distal deletion 12q|monosomy 12qter Orphanet:96149|ICD10:Q93.5 owl:Class UBERON:0005472 biolink:NamedThing right vitelline vein A vitelline vein that is in the right side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014299 biolink:NamedThing schwannomatosis 2 tmpak2llvmy_mondo_relaxed.owl SCHWANNOMATOSIS 2|Schwannomatosis type 2|SWNTS2|schwannomatosis 2 UMLS:C3810283|OMIM:615670 owl:Class HGNC:1985 biolink:NamedThing CIT tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:314146 biolink:NamedThing Euarchontoglires tmpak2llvmy_mondo_relaxed.owl PMID:12082125|GC_ID:1|PMID:11214319|PMID:15522813|PMID:12878460 ncbi_taxonomy owl:Class MONDO:0010662 biolink:NamedThing paraplegia-intellectual disability-hyperkeratosis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. tmpak2llvmy_mondo_relaxed.owl mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis Orphanet:2824|OMIM:309560|MESH:C537058|ICD10:G82.1|UMLS:C2745996|GARD:0002344 owl:Class NCBITaxon:2732533 biolink:NamedThing Zurhausenvirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010400 biolink:NamedThing X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. tmpak2llvmy_mondo_relaxed.owl X-linked scapuloperoneal syndrome|X-linked SPMD|scapuloperoneal myopathy, FHL1-related|scapuloperoneal myopathy, X-linked dominant|SPM OMIM:300695|Orphanet:431272|UMLS:C2678061|GARD:0007608|ICD10:G71.0 owl:Class UBERON:0005412 biolink:NamedThing optic fissure Groove that is in the developing ventral optic cup and through which blood vessels pass to the enclosed mesenchyme[ZFA]. a ventral fissure in the developing optic cup through which blood vessels pass to the enclosed mesenchyme[Free online medical dictionary]. tmpak2llvmy_mondo_relaxed.owl optic stalk fissure|choroid fissure - optic fissure|optic fissures|ventral choroidal fissure|choroid fissure owl:Class MONDO:0003666 biolink:NamedThing fallopian tube endometrioid adenocarcinoma An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl fallopian tube endometrioid adenocarcinoma|endometrioid carcinoma of fallopian tube|endometrioid adenocarcinoma of fallopian tube|endometrioid carcinoma of the fallopian tube|fallopian tube endometrioid neoplasm|fallopian tube endometrioid carcinoma|fallopian tube endometrioid cancer|endometrioid adenocarcinoma of the fallopian tube DOID:5831|UMLS:C1333592|NCIT:C6279 owl:Class HGNC:9173 biolink:NamedThing POLA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007509 biolink:NamedThing ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant|ECTD10A DOID:0111663|GARD:0002048|OMIM:129490|UMLS:C3888065 owl:Class MONDO:0018675 biolink:NamedThing IgG4-related ophthalmic disease A IgG4-related disease that involves the eye. tmpak2llvmy_mondo_relaxed.owl eye IgG4-related disease|IgG4-related disease of eye UMLS:CN237741|ICD10:H05.1|Orphanet:449563 owl:Class MONDO:0033816 biolink:NamedThing thygeson superficial punctate keratopathy An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. tmpak2llvmy_mondo_relaxed.owl Orphanet:519406 owl:Class MONDO:0011111 biolink:NamedThing horns in sheep tmpak2llvmy_mondo_relaxed.owl Ho|horns in sheep OMIM:601563 owl:Class HGNC:11742 biolink:NamedThing TFAP2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100102 biolink:NamedThing fetal akinesia deformation sequence 2 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene. tmpak2llvmy_mondo_relaxed.owl FADS2 DOID:0111378|OMIM:618388 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0031650 biolink:NamedThing Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. tmpak2llvmy_mondo_relaxed.owl 2017-12-17 15:17:45+00:00 peter human_phenotype owl:Class HP:0031653 biolink:NamedThing Abnormal heart valve physiology Any functional abnormality of a cardiac valve. tmpak2llvmy_mondo_relaxed.owl 2017-12-17 15:21:49+00:00 peter human_phenotype owl:Class MONDO:0016065 biolink:NamedThing cleft palate-short stature-vertebral anomalies syndrome Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome ICD10:Q87.0|GARD:0001392|UMLS:CN200784|Orphanet:2015|SCTID:719466009 https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies owl:Class NCBITaxon:36330 biolink:NamedThing Plasmodium ovale tmpak2llvmy_mondo_relaxed.owl malaria parasite P. ovale GC_ID:1|PMID:20380562 ncbi_taxonomy owl:Class NCBITaxon:418103 biolink:NamedThing Plasmodium (Plasmodium) tmpak2llvmy_mondo_relaxed.owl Plasmodium GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980491 biolink:NamedThing Sin Nombre orthohantavirus tmpak2llvmy_mondo_relaxed.owl Sin Nombre virus|Sin Nombre hantavirus GC_ID:1 NCBITaxon:37705 ncbi_taxonomy owl:Class MONDO:0009625 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 1 tmpak2llvmy_mondo_relaxed.owl recessive microcephaly with spastic quadriplegia|microcephaly, seizures, spasticity, and brain calcifications|MISSBC|microcephaly with spastic quadriplegia|DMJDS1 UMLS:C1855055|OMIM:251280|GARD:0008510|MESH:C537546 https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia owl:Class MONDO:0033211 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:251280 owl:Class GO:0071073 biolink:NamedThing positive regulation of phospholipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpak2llvmy_mondo_relaxed.owl positive regulation of phospholipid formation|activation of phospholipid biosynthetic process|up regulation of phospholipid biosynthetic process|up-regulation of phospholipid biosynthetic process|positive regulation of phospholipid biosynthesis|upregulation of phospholipid biosynthetic process|positive regulation of phospholipid anabolism|stimulation of phospholipid biosynthetic process|positive regulation of phospholipid synthesis owl:Class MONDO:0008534 biolink:NamedThing generalized essential telangiectasia tmpak2llvmy_mondo_relaxed.owl telangiectasia, hereditary benign|telangiectasia, generalized essential|GET|Hbt OMIM:187260|Orphanet:280774|SCTID:238763007|UMLS:C0473555 owl:Class MONDO:0012139 biolink:NamedThing macular dystrophy, retinal, 3 tmpak2llvmy_mondo_relaxed.owl macular dystrophy, retinal, type 3|macular dystrophy, retinal, 3|Mcdr3|MCDR3 UMLS:C3888009|OMIM:608850 owl:Class GO:1904098 biolink:NamedThing regulation of protein O-linked glycosylation Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid O-linked glycosylation owl:Class MONDO:0008963 biolink:NamedThing Chediak-Higashi syndrome ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. tmpak2llvmy_mondo_relaxed.owl Chédiak-Higashi-Steinbrink syndrome|CHS|Chediak Higashi syndrome|ChC)diak-Higashi disease|Chédiak-Higashi disease|Chédiak-Higashi syndrome|Chediak - Steinbrinck anomaly|ChC)diak-Higashi-Steinbrink syndrome|Chediak-Higashi syndrome ICD10:D72.0|OMIM:214500|SCTID:111396008|GARD:0006035|NCIT:C2941|MESH:D002609|Orphanet:167|MedDRA:10008415|ICD10:E70.330|UMLS:C0007965|ICD10:E70.3|DOID:2935 https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome owl:Class MONDO:0004910 biolink:NamedThing mitral valve prolapse A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. tmpak2llvmy_mondo_relaxed.owl valve, prolapse Of mitral|mitral valve prolapse|mitral valve prolapse syndrome|floppy mitral valve|systolic click-murmur syndrome|mitral leaflet syndrome|mitral valve prolapse (disease)|myxomatous mitral valve prolapse|barlow's syndrome|mitral valve prolapse, myxomatous|prolapse, mitral valve mitral valve prolapse (disease) DOID:988|HP:0001634|SCTID:409712001|NCIT:C50655 owl:Class MONDO:0007218 biolink:NamedThing brachydactyly type A4 Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit. tmpak2llvmy_mondo_relaxed.owl Brachymesophalangy 2 and 5|BDA4|brachydactyly Temtamy type|brachymesophalangy II and V|brachydactyly, Temtamy type|Temtamy type brachydactyly|brachydactyly, type A4|Brachymesophalangy II and V ICD10:Q73.8|GARD:0000990|SCTID:715721005|MESH:C537097|DOID:0110967|OMIM:112800|Orphanet:93394 https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 owl:Class MONDO:0011673 biolink:NamedThing autosomal dominant nonsyndromic deafness 30 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 30|DFNA30|autosomal dominant deafness 30|deafness, autosomal dominant 30 OMIM:606451|ICD10:H90.3|MESH:C564706|UMLS:C1847972|DOID:0110560 owl:Class MONDO:0012329 biolink:NamedThing short stature and Facioauriculothoracic malformations tmpak2llvmy_mondo_relaxed.owl short stature and Facioauriculothoracic malformations UMLS:C1864791|MESH:C566457|OMIM:609654 owl:Class MONDO:0016217 biolink:NamedThing mal de Debarquement Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. tmpak2llvmy_mondo_relaxed.owl MdDS|disembarkment syndrome|sickness of disembarkment|Mal de debarquement syndrome|MDD|Mal de débarquement ICD10:H81.8|UMLS:C1608983|SCTID:446079007|Orphanet:210272|GARD:0006959|MedDRA:10064924 owl:Class MONDO:0004308 biolink:NamedThing meningeal sarcoma A rare sarcoma arising from the meninges. tmpak2llvmy_mondo_relaxed.owl sarcoma of meningeal cluster|meninges sarcoma|sarcoma of meninges|sarcoma of the meninges|meningeal sarcoma|meningeal cluster sarcoma NCIT:C4073|UMLS:C0302327|DOID:7614 owl:Class MONDO:0013405 biolink:NamedThing retinitis pigmentosa 49 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene. tmpak2llvmy_mondo_relaxed.owl CNGA1 retinitis pigmentosa|RP49|retinitis pigmentosa type 49|retinitis pigmentosa caused by mutation in CNGA1|retinitis pigmentosa 49 OMIM:613756|DOID:0110377|ICD10:H35.5|UMLS:C3151059 owl:Class MONDO:0100224 biolink:NamedThing mitochondrial complex I deficiency, nuclear type 1 tmpak2llvmy_mondo_relaxed.owl NADH-coenzyme Q reductase deficiency|mitochondrial complex I deficiency|mitochondrial complex I deficiency, nuclear type 1|mitochondrial complex 1 deficiency|NADH:Q(1) oxidoreductase deficiency|MC1DN1|mitochondrial NADH dehydrogenase component of Complex I, deficiency of ICD10:G71.3|GARD:0003908|UMLS:C1838979|OMIM:252010 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018333 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, mild type tmpak2llvmy_mondo_relaxed.owl MADD, mild type|glutaric aciduria type 2, mild type|MAD deficiency, mild type ICD10:E71.3|Orphanet:394532|UMLS:CN205005 owl:Class GO:0003940 biolink:NamedThing L-iduronidase activity Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. tmpak2llvmy_mondo_relaxed.owl alpha-L-iduronidase activity|glycosaminoglycan alpha-L-iduronohydrolase activity owl:Class MONDO:0008932 biolink:NamedThing premature centromere division tmpak2llvmy_mondo_relaxed.owl premature centromere division|PCD|X-chromosome centromere peculiarity OMIM:212790|UMLS:C1859308 owl:Class MONDO:0014503 biolink:NamedThing autosomal recessive spinocerebellar ataxia 17 Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|autosomal recessive spinocerebellar ataxia type 17|spinocerebellar ataxia, autosomal recessive 17|spinocerebellar ataxia autosomal recessive type 17|SCAR17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency|CWF19L1 autosomal recessive congenital cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 17 DOID:0080064|ICD10:G11.1|Orphanet:453521|OMIM:616127|UMLS:C4015301 owl:Class CL:1000435 biolink:NamedThing epithelial cell of lacrimal duct An epithelial cell that is part of the lacrimal duct. tmpak2llvmy_mondo_relaxed.owl FMA:70559 cell owl:Class UBERON:0007794 biolink:NamedThing secretion of serous gland Any fluid produced by a serous gland. tmpak2llvmy_mondo_relaxed.owl serous gland fluid|serosal fluid|serous fluid owl:Class MONDO:0018067 biolink:NamedThing triploidy Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl triploidy syndrome|triploid syndrome|chromosome triploidy syndrome MESH:D057885|SCTID:66651005|Orphanet:3376|ICD9:758.89|ICD10:Q92.7|UMLS:C0333693|GARD:0005295|NCIT:C85204 https://rarediseases.info.nih.gov/diseases/5295/triploidy owl:Class MONDO:0008306 biolink:NamedThing ABri amyloidosis A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. tmpak2llvmy_mondo_relaxed.owl Bri amyloidosis|FBD|dementia familial British|dementia, familial British|ITM2B-related cerebral amyloid angiopathy 1|presenile dementia with spastic ataxia|cerebral amyloid angiopathy, ITM2B-related, type 1|cerebral amyloid angiopathy, British type|familial dementia, British type|ABri amyloidosis|cerebral amyloid angiopathy, ITM2B-RELATED, 1|familial British dementia UMLS:C1867773|Orphanet:97345|DOID:0070029|ICD10:I68.0*|MESH:C538208|GARD:0008344|OMIM:176500|ICD10:E85.4+ https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british owl:Class HP:0002750 biolink:NamedThing Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. tmpak2llvmy_mondo_relaxed.owl Retarded ossification|Retarded bone age|Delayed skeletal development|Delayed bone maturation|Delayed bone age|Delayed bone age before puberty|Skeletal maturation retardation UMLS:C0541764|SNOMEDCT_US:123983008 HP:0000928|HP:0002806 human_phenotype owl:Class MONDO:0000597 biolink:NamedThing Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. tmpak2llvmy_mondo_relaxed.owl Munchausen by proxy syndrome|Munchausen syndrome by proxy SCTID:95637005|DOID:0060045|MESH:D016735|GARD:0007117 https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome owl:Class MONDO:0002103 biolink:NamedThing factitious disorder A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors. tmpak2llvmy_mondo_relaxed.owl Munchausen syndrome MESH:D009110|DOID:1766|NCIT:C92198|ICD10:F68.11|ICD9:300.19|ICD9:300.16|SCTID:50705009 owl:Class MONDO:0004951 biolink:NamedThing susceptibility to HIV infection The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. tmpak2llvmy_mondo_relaxed.owl HIV-1, susceptibility to|human immunodeficiency virus type 1, resistance to|AIDS, progression to|acquired immunodeficiency syndrome, progression to|human immunodeficiency virus type 1, susceptibility to|HIV-1, resistance to UMLS:CN282826|OMIM:609423 owl:Class HGNC:395 biolink:NamedThing ALAD tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3296 biolink:NamedThing EIF4G1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002952 biolink:NamedThing follicular basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl follicular (pilar) basal cell carcinoma|skin follicular basal cell carcinoma SCTID:402526009|DOID:4295|NCIT:C27538|UMLS:C1883723 owl:Class MONDO:0002971 biolink:NamedThing amelanotic melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. tmpak2llvmy_mondo_relaxed.owl amelanotic melanoma (morphologic abnormality)|melanoma, amelanotic, malignant|amelanotic melanoma|melanomas, amelanotic|amelanotic melanomas UMLS:C0206735|MESH:D018328|NCIT:C3802|ICDO:8730/3|DOID:4359|EFO:1001937 owl:Class CL:1000702 biolink:NamedThing kidney pelvis smooth muscle cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001113 cell owl:Class CL:1000505 biolink:NamedThing kidney pelvis cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001018 cell owl:Class HGNC:10993 biolink:NamedThing SLC26A1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:39030 biolink:NamedThing Apodemus agrarius tmpak2llvmy_mondo_relaxed.owl Eurasian field mouse|striped field mouse|Old World field mouse|Apodemus pratensis GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10128 biolink:NamedThing Apodemus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0009763 biolink:NamedThing Limb pain Chronic pain in the limbs with no clear focal etiology. tmpak2llvmy_mondo_relaxed.owl Limb pain|Pain in extremities SNOMEDCT_US:90834002|UMLS:C0030196 peter 2009-02-01T03:55:10Z human_phenotype owl:Class MONDO:0019077 biolink:NamedThing warty dyskeratoma A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. tmpak2llvmy_mondo_relaxed.owl follicular dyskeratoma|isolated follicular keratosis SCTID:254676008|MedDRA:10068856|UMLS:C0334063|NCIT:C4087|Orphanet:69745 owl:Class MONDO:0013496 biolink:NamedThing IgA nephropathy, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl IgA nephropathy, susceptibility to, 2|IGAN2 OMIM:613944 owl:Class HP:0010995 biolink:NamedThing Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023606 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter 2011-02-10T02:01:02Z human_phenotype owl:Class MONDO:0020457 biolink:NamedThing 6-phosphogluconate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:99135|ICD10:D55.1 owl:Class HGNC:19263 biolink:NamedThing LMAN2L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014094 biolink:NamedThing severe congenital hypochromic anemia with ringed sideroblasts STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. tmpak2llvmy_mondo_relaxed.owl severe congenital hypochromic sideroblastic anemia|AHMIO2|anemia, hypochromic microcytic, with iron overload type 2|anemia, hypochromic microcytic, with iron overload 2 Orphanet:300298|UMLS:C4511137|SCTID:725463007|UMLS:C3808920|OMIM:615234|ICD10:D64.0 owl:Class MONDO:0015873 biolink:NamedThing Paget disease of the nipple Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. tmpak2llvmy_mondo_relaxed.owl Paget's disease of nipple|PD|Paget disease of the breast|Paget's disease, mammary|Paget's disease of the nipple|Paget disease of the nipple|nipple Paget's disease|mammary Paget disease NCIT:C3301|SCTID:403946000|Orphanet:180275|UMLS:C1704323|ICD10:C50.0|MedDRA:10033367|GARD:0007303|ONCOTREE:PD owl:Class MONDO:0002648 biolink:NamedThing mammary Paget disease A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur. tmpak2llvmy_mondo_relaxed.owl mammary Paget disease|breast Paget disease|Paget's disease of breast|Paget's disease of the breast|mammary Paget's disease|Paget disease of the breast|Paget cell neoplasm NCIT:C47857|DOID:3443|UMLS:CN200478|ICDO:8540/3 owl:Class CL:0002569 biolink:NamedThing mesenchymal stem cell of umbilical cord A mesenchymal stem cell of the umbilical cord. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-01T09:55:12Z cell owl:Class MONDO:0010335 biolink:NamedThing X-linked cone-rod dystrophy 3 tmpak2llvmy_mondo_relaxed.owl X-linked cone-rod dystrophy type 3|cone-rod dystrophy X-linked 3|cone-rod dystrophy, X-linked, type 3|cone-rod dystrophy, X-linked, 3|CORDX3 MESH:C564507|GARD:0010654|OMIM:300476|DOID:0111007 https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3 owl:Class UBERON:0007303 biolink:NamedThing pharyngeal vasculature A vasculature that is part of a chordate pharynx. tmpak2llvmy_mondo_relaxed.owl branchial vasculature owl:Class MONDO:0007469 biolink:NamedThing double nail for fifth toe tmpak2llvmy_mondo_relaxed.owl double nail for fifth toe|fifth toe, double nails|Double nails on the fifth toe MESH:C565090|GARD:0009672|OMIM:126500 https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe owl:Class MONDO:0012355 biolink:NamedThing autosomal recessive nonsyndromic deafness 28 An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl TRIOBP autosomal recessive nonsyndromic deafness|DFNB28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|deafness, autosomal recessive type 28|autosomal recessive nonsyndromic deafness type 28|autosomal recessive nonsyndromic deafness 28|autosomal recessive deafness 28|deafness, autosomal recessive 28 DOID:0110486|MESH:C565218|NCIT:C129023|UMLS:C1853276|OMIM:609823|ICD10:H90.3 owl:Class MONDO:0017149 biolink:NamedThing drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. tmpak2llvmy_mondo_relaxed.owl drug- or toxin-induced PAH ICD10:I27.2|EFO:0009192|Orphanet:275786|UMLS:C0340544 owl:Class MONDO:0015924 biolink:NamedThing pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). tmpak2llvmy_mondo_relaxed.owl idiopathic pulmonary hypertension|pulmonary arterial hypertension|PAH|PPH SCTID:11399002|GARD:0007501|UMLS:CN200519|MedDRA:10064911|Orphanet:182090|UMLS:C2973725 owl:Class UBERON:0001516 biolink:NamedThing abdominal aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl pars abdominalis aortae|abdominal part of aorta|descending abdominal aorta|aorta abdominalis owl:Class NCBITaxon:142786 biolink:NamedThing Norovirus tmpak2llvmy_mondo_relaxed.owl Norwalk-like viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004485 biolink:NamedThing interstitial myocarditis Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. tmpak2llvmy_mondo_relaxed.owl NCIT:C35786|SCTID:37925008|UMLS:C0027060|DOID:817 owl:Class GO:0022411 biolink:NamedThing cellular component disassembly A cellular process that results in the breakdown of a cellular component. tmpak2llvmy_mondo_relaxed.owl cell structure disassembly|cellular component disassembly at cellular level owl:Class MONDO:0005844 biolink:NamedThing chalazion An eyelid cyst caused by the blockage of a meibomian gland. tmpak2llvmy_mondo_relaxed.owl chalazia|chalazion|Meibomian cyst|meibomian gland lipogranuloma|cyst, Meibomian MESH:D017043|ICD9:373.2|UMLS:C0007933|EFO:0007363|SCTID:1482004|DOID:9903|ICD10:H00.1|NCIT:C26717 owl:Class MONDO:0000754 biolink:NamedThing anal fistula A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. tmpak2llvmy_mondo_relaxed.owl anal fistula|anorectal fistula|anal fistula (disease) anal fistula (disease) SCTID:72779005|MESH:D012003|NCIT:C60785|Orphanet:228113|ICD10:K60.3|DOID:0060328|HP:0010447 owl:Class GO:0150073 biolink:NamedThing regulation of protein-glutamine gamma-glutamyltransferase activity Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003695 biolink:NamedThing ovarian clear cell adenofibroma An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. tmpak2llvmy_mondo_relaxed.owl ovary clear cell adenofibroma|clear cell adenofibroma of ovary|ovarian clear cell adenofibroma DOID:5897|NCIT:C40085|UMLS:C1518694 owl:Class GO:0005884 biolink:NamedThing actin filament A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. tmpak2llvmy_mondo_relaxed.owl microfilament owl:Class ENVO:01000726 biolink:NamedThing desublimation process Desublimation is a process in which a portion of some gas undergoes a phase transition into a portion of some solid. tmpak2llvmy_mondo_relaxed.owl deposition owl:Class HP:0410008 biolink:NamedThing Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. tmpak2llvmy_mondo_relaxed.owl Abnormality of the peripheral nervous system UMLS:C4073187 human_phenotype owl:Class GO:0071971 biolink:NamedThing extracellular exosome assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. tmpak2llvmy_mondo_relaxed.owl extracellular vesicular exosome assembly owl:Class MONDO:0004296 biolink:NamedThing cervical lymphoepithelioma-like carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. tmpak2llvmy_mondo_relaxed.owl cervical lymphoepithelioma-like carcinoma UMLS:C1516418|DOID:7598|NCIT:C40193 owl:Class MONDO:0007446 biolink:NamedThing dermatosis papulosa nigra A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. tmpak2llvmy_mondo_relaxed.owl dermatosis papulosa nigra|dermatosis papulosa nigra (morphologic abnormality) UMLS:C0011645|ICD10:L82|OMIM:125600|ICD9:709.8|SCTID:254669003|NCIT:C2984|EFO:1000686|DOID:4400|Wikipedia:Dermatosis_papulosa_nigra|MESH:C562379 owl:Class MONDO:0042496 biolink:NamedThing ergotism Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. tmpak2llvmy_mondo_relaxed.owl ergot poisonings|Saint Anthony fire|Saint Anthonys fire|St. Anthony's fire|St Anthony's fire|ergotisms|ergot poisoning|fire, St. Anthonys|ergotism|poisoning, ergot|St. Anthonys fire|Saint Anthony's fire|poisonings, ergot|St. Anthony fire MESH:D004881|SCTID:51510002|ICD9:988.2|GARD:0000196 owl:Class MONDO:0019266 biolink:NamedThing SAPHO syndrome SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. tmpak2llvmy_mondo_relaxed.owl acquired hyperostosis syndrome|synovitis acne pustulosis hyperostosis osteitis|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|PPHS|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Orphanet:793|DOID:13677|SCTID:60684003|MESH:D020083|NCIT:C119049|EFO:1001164|ICD10:M86.3|ICD9:706.1|MedDRA:10051316|UMLS:C0263859|GARD:0007606 https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome owl:Class HGNC:19877 biolink:NamedThing GALNT12 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1783270 biolink:NamedThing FCB group tmpak2llvmy_mondo_relaxed.owl Fibrobacter/Acidobacteria group|Fibrobacteres/Acidobacteria group|Fibrobacteres-Chlorobi-Bacteroidetes superphylum GC_ID:11 NCBITaxon:131550 ncbi_taxonomy owl:Class MONDO:0018850 biolink:NamedThing proliferating trichilemmal cyst Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. tmpak2llvmy_mondo_relaxed.owl proliferating pilar cystic tumor|proliferating Pilar tumor|proliferating pilar cyst|Pilar tumor|proliferating trichilemmal tumor|Pilar cyst|proliferating Tricholemmal tumor ICDO:8103/0|ONCOTREE:PPCT|ICD10:L72.1|GARD:0004509|UMLS:C2959585|SCTID:254678009|UMLS:C0345992|Orphanet:492|NCIT:C27125|ICDO:8103/1 https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst owl:Class MONDO:0043862 biolink:NamedThing voice disorders A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. tmpak2llvmy_mondo_relaxed.owl neurologic dysphonia|voice disorder|neurologic voice disorder MESH:D014832|NCIT:C3441|SCTID:71941009 owl:Class MONDO:0017817 biolink:NamedThing primary localized amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. tmpak2llvmy_mondo_relaxed.owl localized AL amyloidosis ICD10:E85.4|Orphanet:314709 owl:Class GO:1904540 biolink:NamedThing positive regulation of glycolytic process through fructose-6-phosphate Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpak2llvmy_mondo_relaxed.owl up regulation of glycolysis through fructose-6-phosphate|up-regulation of glycolytic process through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|upregulation of glycolysis through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate owl:Class UBERON:0005626 biolink:NamedThing ventral mesogastrium Portion of ventral mesentery closest to the stomach. tmpak2llvmy_mondo_relaxed.owl foregut ventral mesentery owl:Class MONDO:0003998 biolink:NamedThing vaginal tubular adenoma An adenoma that arises from the vagina and is characterized by a tubular architectural pattern. tmpak2llvmy_mondo_relaxed.owl vaginal tubular adenoma NCIT:C40257|DOID:6809|UMLS:C1519932 owl:Class UBERON:0007118 biolink:NamedThing umbilicus The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus. tmpak2llvmy_mondo_relaxed.owl umbilical region|umbilical part of abdomen|navel owl:Class MONDO:0022553 biolink:NamedThing BD syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0000841 https://rarediseases.info.nih.gov/diseases/841/bd-syndrome owl:Class GO:0055088 biolink:NamedThing lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:111527 biolink:NamedThing pseudomallei group tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0044464 biolink:NamedThing cell part OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms. tmpak2llvmy_mondo_relaxed.owl cellular subcomponent|protoplast CL:0000000 True owl:Class MONDO:0007011 biolink:NamedThing uveoparotid fever A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. tmpak2llvmy_mondo_relaxed.owl uveoparotid fever|Heerfordt's syndrome EFO:1001232|ICD10:D86.89|DOID:13404|MESH:D014608|SCTID:4416007|UMLS:C0042171 owl:Class MONDO:0100205 biolink:NamedThing parainfluenza virus type 4 infectious disease A disease caused by infection with parainfluenza virus type 4. tmpak2llvmy_mondo_relaxed.owl infection due to human parainfluenza virus 4|infection caused by parainfluenza virus 4|infection caused by human parainfluenza virus 4|human rubulavirus 4 infectious disease|infection due to parainfluenza virus 4 OMOP:4288743 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0003879 biolink:NamedThing ovarian endometrioid adenocarcinofibroma A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma UMLS:C1518711|ICDO:8381/3|DOID:6445|NCIT:C40060 owl:Class MONDO:0012921 biolink:NamedThing type 1 diabetes mellitus 22 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, type 22|IDDM22|insulin-dependent diabetes mellitus 22|type 1 diabetes mellitus caused by mutation in CCR5|CCR5 type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, 22 OMIM:612522|ICD10:E10|UMLS:C2675864|MESH:C567284|DOID:0110759 owl:Class MONDO:0006018 biolink:NamedThing Wissler syndrome A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. tmpak2llvmy_mondo_relaxed.owl Wissler syndrome|Wissler's subsepsis allergica|Wissler-Fanconi syndrome (finding)|Wissler's syndrome UMLS:C0043195|EFO:0007547|MESH:D014924|DOID:3047 owl:Class MONDO:0007431 biolink:NamedThing dens in dente and palatal invaginations tmpak2llvmy_mondo_relaxed.owl dens in dente and palatal INVAGINATIONS UMLS:C1852250|MESH:C538211|OMIM:125300|GARD:0010069 owl:Class GO:0043471 biolink:NamedThing regulation of cellular carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates, carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021829 biolink:NamedThing agnathia-microstomia-synotia tmpak2llvmy_mondo_relaxed.owl Plurimalformative syndrome|agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment UMLS:C2931718|GARD:0010125|MESH:C538059 https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia owl:Class MONDO:0014765 biolink:NamedThing woolly hair, autosomal recessive 3 Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene. tmpak2llvmy_mondo_relaxed.owl KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3|woolly hair, autosomal recessive type 3|woolly hair, autosomal recessive 3, with hypotrichosis|woolly hair (disease) caused by mutation in KRT25|ARWH3 DOID:0111574|OMIM:616760|UMLS:C4225214 owl:Class MONDO:0007914 biolink:NamedThing lumbar stenosis, familial tmpak2llvmy_mondo_relaxed.owl lumbar stenosis, familial OMIM:152550|MESH:C563613|UMLS:C1835320 owl:Class MONDO:0033369 biolink:NamedThing developmental and epileptic encephalopathy, 60 tmpak2llvmy_mondo_relaxed.owl DEE60|EIEE60|epileptic encephalopathy, early infantile, 60 DOID:0080432|UMLS:CN244549|OMIM:617929 owl:Class NCBITaxon:2508209 biolink:NamedThing Tobaniviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:29195 biolink:NamedThing cyanate tmpak2llvmy_mondo_relaxed.owl OCN(-)|cyanate ion|[C(N)O](-)|Zyanat|nitridooxidocarbonate(1-)|Cyanat|cyanate owl:Class CHEBI:36828 biolink:NamedThing pseudohalide anion tmpak2llvmy_mondo_relaxed.owl pseudohalides|pseudohalogen anion|pseudohalide ions|pseudohalogen ion|pseudohalide anions owl:Class MONDO:0008507 biolink:NamedThing surface polypeptides, anonymous tmpak2llvmy_mondo_relaxed.owl Spa2|surface polypeptides, anonymous|Spa5 OMIM:185610 owl:Class MONDO:0010764 biolink:NamedThing deafness, Y-linked 1 tmpak2llvmy_mondo_relaxed.owl deafness, Y-linked 1|DFNY1 OMIM:400043|UMLS:C3888076|DOID:0111759 owl:Class MONDO:0010704 biolink:NamedThing otopalatodigital syndrome type 1 Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. tmpak2llvmy_mondo_relaxed.owl oto-palato-digital syndrome type 1|otopalatodigital syndrome, type 1|OPD syndrome|Taybi syndrome|OPD syndrome 1|OPD 1 syndrome|otopalatodigital spectrum disorder|frontootopalatodigital osteodysplasia|OPD I syndrome|otopalatodigital syndrome, type I|OPD1 ICD9:759.89|SCTID:54036001|NCIT:C118845|ICD10:Q87.0|GARD:0005121|Orphanet:90650|OMIM:311300|DOID:0111783 owl:Class HGNC:7179 biolink:NamedThing ALDH6A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15508 biolink:NamedThing PUS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014382 biolink:NamedThing collection of hairs on head or neck A collection of hairs that is part of a craniocervical region. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098645 biolink:NamedThing collagen network A supramolecular complex that consists of collagen triple helices associated to form a network. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099081 biolink:NamedThing supramolecular polymer A polymeric supramolecular structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015158 biolink:NamedThing unexplained periodic fever syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:102237|ICD10:E85.0|UMLS:CN197498 owl:Class NCBITaxon:1257 biolink:NamedThing Peptostreptococcus tmpak2llvmy_mondo_relaxed.owl PMID:11491354|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010019 biolink:NamedThing secretory component deficiency tmpak2llvmy_mondo_relaxed.owl secretory component deficiency|IgA deficiency, secretory MESH:C562869|ICD9:279.03|OMIM:269650|UMLS:C0398709|SCTID:234554004 owl:Class HGNC:21086 biolink:NamedThing MIB1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001783 biolink:NamedThing optic disc The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl optic disk|optic nerve disc|optic nerve head|physiologic blind spot|optic papilla|physiologic blind spot of mariotte owl:Class MONDO:0009004 biolink:NamedThing combined inflammatory and immunologic defect tmpak2llvmy_mondo_relaxed.owl combined inflammatory and immunologic defect 2021-01-01 MESH:C565684|OMIM:216920|UMLS:C1857617 Reason: duplicate. This will be merged with MONDO:0014353 PGM3-CDG owl:Class MONDO:0010882 biolink:NamedThing aphalangy-syndactyly-microcephaly syndrome Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. tmpak2llvmy_mondo_relaxed.owl Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4|Aphalangia partial with syndactyly and duplication of metatarsal IV|APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV UMLS:C1838161|Orphanet:1113|GARD:0000748|MESH:C563942|ICD10:Q87.2|OMIM:600384 https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv owl:Class MONDO:0008811 biolink:NamedThing XK aprosencephaly XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. tmpak2llvmy_mondo_relaxed.owl aprosencephaly syndrome|Garcia-Lurie syndrome|XK aprosencephaly syndrome|XK-aprosencephaly syndrome|Xk syndrome|aprosencephaly-atelencephaly syndrome|XK-aprosencephaly|atelencephaly UMLS:C0795952|SCTID:277921008|GARD:0000424|OMIM:207770|ICD10:Q04.3|MESH:C536767|Orphanet:3469 https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly owl:Class NCBITaxon:91493 biolink:NamedThing Exserohilum tmpak2llvmy_mondo_relaxed.owl Setosphaeria GC_ID:1 NCBITaxon:39952 ncbi_taxonomy owl:Class NCBITaxon:28556 biolink:NamedThing Pleosporaceae tmpak2llvmy_mondo_relaxed.owl Pyrenophoraceae GC_ID:1 NCBITaxon:117568 ncbi_taxonomy owl:Class MONDO:0019802 biolink:NamedThing secondary short bowel syndrome Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpak2llvmy_mondo_relaxed.owl ICD10:K91.2|UMLS:CN206757|Orphanet:95427 owl:Class HGNC:14544 biolink:NamedThing WNK4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012112 biolink:NamedThing hypertrophic cardiomyopathy 10 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|MYL2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 10|CMH10|cardiomyopathy, familial hypertrophic, 10|hypertrophic cardiomyopathy caused by mutation in MYL2|hypertrophic cardiomyopathy 10|cardiomyopathy, familial hypertrophic, type 10 UMLS:C1834460|DOID:0110316|OMIM:608758|MESH:C563865 owl:Class HGNC:21528 biolink:NamedThing DIABLO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041656 biolink:NamedThing ST-elevation myocardial infarction A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. tmpak2llvmy_mondo_relaxed.owl STEMI|acute-ST segment elevation myocardial infarction|ST segment elevation myocardial infarction EFO:0008585|SCTID:401303003 owl:Class MONDO:0004766 biolink:NamedThing status asthmaticus An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. tmpak2llvmy_mondo_relaxed.owl severe asthma attack|asthma with status asthmaticus SCTID:708090002|DOID:9362|NCIT:C122577|EFO:0008590|ICD9:493.91|ICD10:J46|MESH:D013224|UMLS:C0038218 owl:Class NCBITaxon:33988 biolink:NamedThing Rickettsieae tmpak2llvmy_mondo_relaxed.owl PMID:11760958|PMID:8240958|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012272 biolink:NamedThing intellectual disability, keratoconus, febrile seizures, and sinoatrial block tmpak2llvmy_mondo_relaxed.owl mental retardation, keratoconus, febrile seizures, and sinoatrial block|intellectual disability, keratoconus, febrile seizures, and sinoatrial block GARD:0010064|UMLS:C1836202|OMIM:609438|MESH:C537452 https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block owl:Class UBERON:0035927 biolink:NamedThing sulcus of parietal lobe tmpak2llvmy_mondo_relaxed.owl parietal lobe sulci|PLs|parietal lobe sulcus owl:Class MONDO:0024327 biolink:NamedThing chronic renal failure syndrome Impairment of the renal function due to chronic kidney damage. tmpak2llvmy_mondo_relaxed.owl CRF - chronic renal failure|Chronic renal disease|chronic renal failure disease|chronic kidney failure|chronic renal failure|kidney failure, chronic MESH:D051436|NCIT:C9438|ICD9:585.9|SCTID:90688005 owl:Class FOODON:03302116 biolink:NamedThing cow milk (liquid) tmpak2llvmy_mondo_relaxed.owl cow milk|milk SUBSET_SIREN:F2116 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class HGNC:10672 biolink:NamedThing CXCL12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014549 biolink:NamedThing lethal congenital contracture syndrome 6 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome type 6|lethal congenital contracture syndrome 6|LCCS6|lethal congenital contracture syndrome caused by mutation in ZBTB42|ZBTB42 lethal congenital contracture syndrome OMIM:616248|UMLS:C4015686 owl:Class HGNC:2728 biolink:NamedThing DDOST tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018845 biolink:NamedThing focal myositis Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. tmpak2llvmy_mondo_relaxed.owl focal nodular myositis|inflammatory pseudotumor of skeletal muscle ICD9:729.1|SCTID:240119009|ICD10:M60.8|Orphanet:48918 owl:Class MONDO:0013173 biolink:NamedThing intellectual disability, autosomal recessive 13 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 13|intellectual disability, autosomal recessive type 13|mental retardation, autosomal recessive type 13|MRT13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|intellectual disability, autosomal recessive 13|TRAPPC9 autosomal recessive non-syndromic intellectual disability UMLS:C2750791|OMIM:613192|MESH:C567714 owl:Class MONDO:0043185 biolink:NamedThing pointer syndrome tmpak2llvmy_mondo_relaxed.owl skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties GARD:0004395|MESH:C536323|UMLS:C0796118 owl:Class MONDO:0024954 biolink:NamedThing larva migrans, visceral A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. tmpak2llvmy_mondo_relaxed.owl Migran, visceral larva|visceral larva migrans|migrans, visceral larva|visceral larva migrans syndrome|larva Migran, visceral|visceral larva Migran MESH:D007816 owl:Class MONDO:0020231 biolink:NamedThing cardiac disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98647|UMLS:CN207059 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: heart disease' MONDO_0005267 owl:Class UBERON:0000395 biolink:NamedThing cochlear ganglion The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus. tmpak2llvmy_mondo_relaxed.owl ganglion spirale cochleae|spiral ganglion of cochlea|ganglion cochlearis|cochlear part of vestibulocochlear ganglion|vestibulocochlear ganglion cochlear component|ganglion spirale|spiral ganglion|Corti's ganglion|ganglion of Corti|vestibulocochlear VIII ganglion cochlear component owl:Class HGNC:8024 biolink:NamedThing NTF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018821 biolink:NamedThing X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability tmpak2llvmy_mondo_relaxed.owl X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females UMLS:CN776923|Orphanet:480880 owl:Class MONDO:0004831 biolink:NamedThing proliferative fasciitis A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. tmpak2llvmy_mondo_relaxed.owl NCIT:C4728|SCTID:254737002|UMLS:C0432528|DOID:9599 owl:Class GO:0048817 biolink:NamedThing negative regulation of hair follicle maturation Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation. tmpak2llvmy_mondo_relaxed.owl down-regulation of hair follicle maturation|inhibition of hair follicle maturation|downregulation of hair follicle maturation|down regulation of hair follicle maturation owl:Class CHEBI:15841 biolink:NamedThing polypeptide A peptide containing ten or more amino acid residues. tmpak2llvmy_mondo_relaxed.owl polipeptido|polypeptides|Polypeptide|Polypeptid owl:Class MONDO:0016211 biolink:NamedThing non-papillary transitional cell carcinoma of the bladder tmpak2llvmy_mondo_relaxed.owl non-papillary urothelial carcinoma ICD10:C67.7|ICD10:C67.2|ICD10:C67.1|ICD10:C67.6|ICD10:C67.4|UMLS:CN200968|ICD10:C67.5|ICD10:C67.3|ICD10:C67.0|Orphanet:209989|ICD10:C67.8|ICD10:C67.9 owl:Class MONDO:0016190 biolink:NamedThing qualitative or quantitative defects of protein ZASP tmpak2llvmy_mondo_relaxed.owl Orphanet:209050 owl:Class MONDO:0016186 biolink:NamedThing qualitative or quantitative defects of myofibrillar proteins tmpak2llvmy_mondo_relaxed.owl Orphanet:209038 owl:Class MONDO:0018635 biolink:NamedThing idiopathic phalangeal acro-osteolysis tmpak2llvmy_mondo_relaxed.owl idiopathic phalangeal acroosteolysis ICD10:M89.5|Orphanet:444316 owl:Class HP:0011017 biolink:NamedThing Abnormal cellular physiology An abnormality in a cellular process. tmpak2llvmy_mondo_relaxed.owl Abnormality of cell physiology UMLS:C4023595 peter 2011-02-22T07:05:50Z HP:0025462 human_phenotype owl:Class MONDO:0008063 biolink:NamedThing nasal alar collapse, bilateral tmpak2llvmy_mondo_relaxed.owl nasal alar collapse, bilateral MESH:C563533|OMIM:161470|UMLS:C1834371 owl:Class MONDO:0009353 biolink:NamedThing homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. tmpak2llvmy_mondo_relaxed.owl MTHFR deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|5,10 alpha methylenetetrahydro-folate reductase deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency|homocystinuria due to MTHFR deficiency|homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|Methylenetetrahydro-folate reductase deficiency|methylene tetrahydrofolate reductase deficiency|methylenetetrahydrofolate reductase deficiency|MTHFR deficiency, thermolabile type|5,10-alpha-methylenetetrahydro-folate reductase deficiency OMIM:236250|SCTID:41797007|GARD:0002734|MESH:C537357|Orphanet:395|ICD10:E72.1 owl:Class UBERON:3000972 biolink:NamedThing head external integument structure Dermal, epidermal, glandular and pigment structures of the external head integument. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013681 biolink:NamedThing alpha-methylacyl-CoA racemase deficiency A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. tmpak2llvmy_mondo_relaxed.owl AMACR|AMACRD|AMACR deficiency|alpha-methylacyl-CoA racemase deficiency SCTID:700463002|OMIM:614307|DOID:0060602|NCIT:C119677|UMLS:C3280428|EFO:1001980|MESH:C565768 owl:Class MONDO:0019233 biolink:NamedThing disorder of peroxisomal beta oxidation tmpak2llvmy_mondo_relaxed.owl disorder of peroxisomal beta oxidation ICD10:E71.3|GARD:0012470|UMLS:CN227598|Orphanet:79188 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder owl:Class MONDO:0022311 biolink:NamedThing cote katsantoni syndrome tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia osteosclerosis MESH:C536449|UMLS:C2931195|GARD:0001554 https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome owl:Class MONDO:0018837 biolink:NamedThing postinfectious vasculitis Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. tmpak2llvmy_mondo_relaxed.owl ICD10:I77.6|UMLS:C4510302|Orphanet:48435|SCTID:724063005 owl:Class HGNC:5008 biolink:NamedThing HMGCS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023206 biolink:NamedThing functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. tmpak2llvmy_mondo_relaxed.owl functional pancreatic NET|functioning well-differentiated neuroendocrine neoplasm of pancreas|syndromic pancreatic NET|functioning well differentiated pancreatic endocrine neoplasm|functioning neuroendocrine tumor of pancreas|functional pancreatic neuroendocrine tumor|functioning well-differentiated pancreatic NEN|functioning well-differentiated pancreatic neuroendocrine neoplasm|functioning pancreatic NET|functioning pancreatic neuroendocrine tumor|functioning PNET|functioning well-differentiated NEN of pancreas|syndromic pancreatic neuroendocrine tumor|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic endocrine tumor NCIT:C45840|GARD:0002414|UMLS:C1708107|Orphanet:506060 https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor owl:Class MONDO:0001590 biolink:NamedThing quadriplegia Paralysis of all four limbs. tmpak2llvmy_mondo_relaxed.owl bilateral diplegia|tetraplegia ICD10:G82.5|SCTID:11538006|ICD9:344.00|NCIT:C50721|ICD9:344.09|MESH:D011782|DOID:12835|UMLS:C0034372|ICD10:G82.50 owl:Class MONDO:0004811 biolink:NamedThing simple chronic conjunctivitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155146|SCTID:8211008|DOID:9512|ICD9:372.11|ICD10:H10.42 owl:Class MONDO:0002262 biolink:NamedThing capillary lymphangioma A lymphangioma that involves the capillary. tmpak2llvmy_mondo_relaxed.owl capillary lymphangioma|cutaneous lymphangioma SCTID:445492005|DOID:2286 owl:Class UBERON:0013752 biolink:NamedThing diaphysis of metacarpal bone A diaphysis that is part of a metacarpal bone. tmpak2llvmy_mondo_relaxed.owl metacarpal bone diaphysis|body of metacarpal|shaft of metacarpal|shaft of metacarpal bone|corpus ossis metacarpi owl:Class MONDO:0020412 biolink:NamedThing congenital patent ductus arteriosus aneurysm Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:99072|ICD10:Q25.8|SCTID:763316006 owl:Class MONDO:0019822 biolink:NamedThing arterial duct anomaly tmpak2llvmy_mondo_relaxed.owl patent ductus arteriosus anomalies Orphanet:95485 owl:Class MONDO:0011764 biolink:NamedThing autosomal dominant Parkinson disease 8 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. tmpak2llvmy_mondo_relaxed.owl LRRK2 Parkinson disease|autosomal dominant Parkinson disease type 8|Parkinson disease caused by mutation in LRRK2|autosomal dominant Parkinson's disease 8|autosomal dominant Parkinson disease 8|Parkinson disease 8, autosomal dominant|PARK8 OMIM:607060|UMLS:C1846862|DOID:0060371 owl:Class MONDO:0054844 biolink:NamedThing pontocerebellar hypoplasia, type 1D tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 1D|PCH1D UMLS:CN252648|OMIM:618065 owl:Class UBERON:8300003 biolink:NamedThing right hindlimb A hindlimb that is on the right side of a pelvic complex. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015671 biolink:NamedThing oxygen transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014514 biolink:NamedThing aortic aneurysm, familial thoracic 9 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. tmpak2llvmy_mondo_relaxed.owl MFAP5 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, familial thoracic type 9|AAT9|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic 9|aortic aneurysm, thoracic, with or without aortic dissection UMLS:C4015368|OMIM:616166 owl:Class MONDO:0007870 biolink:NamedThing labia minora, incomplete adhesion of tmpak2llvmy_mondo_relaxed.owl labia minora, incomplete adhesion of OMIM:149600 owl:Class MONDO:0032565 biolink:NamedThing ophthalmoplegia, external, with rib and vertebral anomalies tmpak2llvmy_mondo_relaxed.owl EORVA|OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES OMIM:618155 owl:Class CL:1000278 biolink:NamedThing smooth muscle fiber of ileum A smooth muscle cell that is part of the ileum. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of ileum FMA:15066 cell owl:Class UBERON:0000203 biolink:NamedThing pallium Dorsal part (roof region) of the telencephalon[GO]. tmpak2llvmy_mondo_relaxed.owl area dorsalis telencephali|dorsal telencephalic area|dorsal part of telencephalon|dorsal telencephalon owl:Class MONDO:0000468 biolink:NamedThing third-degree atrioventricular block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) tmpak2llvmy_mondo_relaxed.owl non-congenital complete atrioventricular block|atrioventricular block, third degree|third degree AV block|complete AV block|atrioventricular block complete|complete heart block|third degree atrioventricular block|complete atrioventricular block|AV block third degree ICD9:426.0|UMLS:C0151517|NCIT:C50501|DOID:0050823|SCTID:27885002 owl:Class MONDO:0022819 biolink:NamedThing congenital arteriovenous shunt tmpak2llvmy_mondo_relaxed.owl GARD:0006150 https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt owl:Class GO:2000765 biolink:NamedThing regulation of cytoplasmic translation Any process that modulates the frequency, rate or extent of cytoplasmic translation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005980 biolink:NamedThing tick infestation Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. tmpak2llvmy_mondo_relaxed.owl Ixodoidea disease or disorder|Ixodoidea infectious disease|Ixodoidea caused disease or disorder DOID:4109|MESH:D013984|EFO:0007508|UMLS:C0040196 owl:Class MONDO:0008014 biolink:NamedThing nondisjunction tmpak2llvmy_mondo_relaxed.owl mixoploidy, familial|mosaicism, chromosomal|nondisjunction OMIM:158250|UMLS:C1834741 owl:Class MONDO:0012554 biolink:NamedThing cerebrooculofacioskeletal syndrome 4 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. tmpak2llvmy_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 4|COFS4|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4|COFS syndrome caused by mutation in ERCC1 OMIM:610758|NCIT:C173104|MESH:C565184|UMLS:C1853100 owl:Class MONDO:0020312 biolink:NamedThing atypical chronic myeloid leukemia tmpak2llvmy_mondo_relaxed.owl atypical chronic myeloid leukemia BCR-ABL1 negative|atypical CML|subacute granulocytic leukemia|subacute myeloid leukemia|aCML DOID:0060597|Orphanet:98824|ICD10:C92.2|MedDRA:10054651 Editor note: consider merge with MONDO:0004653 owl:Class MONDO:0003698 biolink:NamedThing penis verrucous carcinoma A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. tmpak2llvmy_mondo_relaxed.owl penis verrucous carcinoma|verrucous carcinoma of the penis|squamous carcinoma of the penis, verrucous type|verrucous squamous carcinoma of penis|verrucous penile squamous cell carcinoma|verrucous squamous carcinoma of the penis|verrucous penile carcinoma|verrucous penile squamous carcinoma|squamous carcinoma of penis, verrucous type|verrucous carcinoma of penis ONCOTREE:VPSCC|DOID:5908|NCIT:C6982|UMLS:C1336955 owl:Class MONDO:0011695 biolink:NamedThing melanoma, uveal, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl UVM1|melanoma, uveal, susceptibility to, type 1|melanoma, uveal, susceptibility to, 1 OMIM:606660 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0009030 biolink:NamedThing cranial nerves, recurrent paresis of tmpak2llvmy_mondo_relaxed.owl cranial nerves, recurrent paresis of UMLS:C1857530|OMIM:218200|MESH:C565672 owl:Class MONDO:0030847 biolink:NamedThing arthrogryposis, distal, type 1C tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, type 1C|DA1C OMIM:619110 owl:Class NCBITaxon:39087 biolink:NamedThing Arvicolinae tmpak2llvmy_mondo_relaxed.owl Microtinae GC_ID:1 ncbi_taxonomy owl:Class HGNC:7518 biolink:NamedThing MUC7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0040870 biolink:NamedThing primary polydipsia A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008690 biolink:NamedThing xeroderma pigmentosum, autosomal dominant, mild tmpak2llvmy_mondo_relaxed.owl xeroderma pigmentosum, autosomal dominant, mild UMLS:C1860231|MESH:C565989|OMIM:194400 owl:Class MONDO:0015473 biolink:NamedThing cryptorchidism-arachnodactyly-intellectual disability syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. tmpak2llvmy_mondo_relaxed.owl cryptorchidism arachnodactyly intellectual deficit|Van Benthem-Driessen-Hanveld syndrome GARD:0000860|UMLS:CN199616|Orphanet:1548|ICD10:Q87.8 owl:Class NCBITaxon:6258 biolink:NamedThing Baylisascaris tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000944 biolink:NamedThing Abnormality of the metaphysis An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. tmpak2llvmy_mondo_relaxed.owl Abnormality of the wide portion of a long bone UMLS:C4025814 HP:0006506 human_phenotype owl:Class UBERON:0007021 biolink:NamedThing sexually immature organism A multicellular organism that is at the juvenile stage. tmpak2llvmy_mondo_relaxed.owl juvenile organism|juveniles|juvenile owl:Class MONDO:0002204 biolink:NamedThing transient arthritis Arthritis that is not permanent. tmpak2llvmy_mondo_relaxed.owl transient arthropathy SCTID:6011000119108|UMLS:C0152083|UMLS:C3887596|ICD9:716.40|DOID:2092|ICD9:716.4|ICD10:M12.8 owl:Class MONDO:0000573 biolink:NamedThing recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpak2llvmy_mondo_relaxed.owl recombinase activating gene 2 deficiency DOID:0060012 owl:Class MONDO:0006388 biolink:NamedThing prolactin-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. tmpak2llvmy_mondo_relaxed.owl malignant prolactin secreting neoplasm of the pituitary|malignant prolactin secreting tumor of pituitary|malignant prolactinoma|PRL producing pituitary gland carcinoma|malignant prolactinoma of the pituitary|malignant prolactin producing neoplasm of the pituitary|malignant pituitary prolactinoma|prolactin-producing pituitary gland carcinoma|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactinoma of pituitary gland|malignant prolactin producing tumor of pituitary|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactin secreting pituitary gland tumor|malignant prolactin secreting tumor of the pituitary gland|malignant prolactin producing tumor of pituitary gland|malignant prolactin producing neoplasm of pituitary gland|malignant pituitary gland prolactinoma|malignant prolactin secreting neoplasm of pituitary|malignant prolactin producing tumor of the pituitary|malignant prolactinoma of the pituitary gland|malignant prolactin producing tumor|malignant prolactinoma of pituitary|malignant prolactin producing neoplasm of pituitary|malignant prolactin secreting pituitary tumor|prolactin producing pituitary gland carcinoma|malignant prolactin producing pituitary neoplasm|malignant prolactin producing tumor of the pituitary gland|malignant prolactin secreting tumor of the pituitary|malignant prolactin producing pituitary tumor|malignant prolactin secreting pituitary gland neoplasm|malignant prolactin producing pituitary gland tumor|malignant prolactin producing pituitary gland neoplasm|malignant prolactin secreting tumor of pituitary gland|malignant prolactin secreting pituitary neoplasm NCIT:C5962|UMLS:C1334614|EFO:1000497 owl:Class MONDO:0001257 biolink:NamedThing retinal microaneurysm tmpak2llvmy_mondo_relaxed.owl UMLS:C0154834|ICD9:362.14|SCTID:34037000|DOID:11295 Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265 owl:Class GO:0006555 biolink:NamedThing methionine metabolic process The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpak2llvmy_mondo_relaxed.owl methionine and threonine metabolism|methionine and threonine metabolic process|methionine metabolism owl:Class NCBITaxon:629 biolink:NamedThing Yersinia tmpak2llvmy_mondo_relaxed.owl Yersinia GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006637 biolink:NamedThing acute kidney tubular necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. tmpak2llvmy_mondo_relaxed.owl acute renal failure with tubular necrosis|acute tubular necrosis|acute tubule necrosis|ATN - acute tubular necrosis|acute renal failure with lesion of tubular necrosis ICD10:N17.0|NCIT:C34749|HP:0008682|MedDRA:10023441|DOID:12556|ICD9:584.5|EFO:1000794|SCTID:35455006|MESH:D007683|UMLS:C0022672 owl:Class MONDO:0002492 biolink:NamedThing acute kidney failure Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. tmpak2llvmy_mondo_relaxed.owl acute renal failure|kidney failure, acute|AKI|acute kidney injury|ARF ICD10:N17|NCIT:C26808|MESH:D058186|DOID:3021 owl:Class MONDO:0014755 biolink:NamedThing skin creases, congenital symmetric circumferential, 2 tmpak2llvmy_mondo_relaxed.owl skin creases, congenital symmetric circumferential, 2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2|CSCSC2|skin creases, congenital symmetric circumferential, 2; CSCSC2|skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs OMIM:616734 owl:Class MONDO:0008762 biolink:NamedThing autosomal recessive Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. tmpak2llvmy_mondo_relaxed.owl Alport syndrome recessive type|nephropathy and deafness|Alport syndrome autosomal recessive|Alport syndrome, autosomal recessive Orphanet:88919|DOID:0110033|OMIM:203780|SCTID:717767009|ICD10:Q87.8|GARD:0000625|MedDRA:10001843 https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome owl:Class MONDO:0020177 biolink:NamedThing pigmented palpebral tumor tmpak2llvmy_mondo_relaxed.owl pigmented palpebral neoplasm|pigmented eyelid tumor UMLS:CN207037|Orphanet:98586 owl:Class HGNC:12642 biolink:NamedThing VAMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005216 biolink:NamedThing hypopharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx. tmpak2llvmy_mondo_relaxed.owl hypopharyngeal carcinoma|carcinoma of the hypopharynx|carcinoma of hypopharynx|cancer of the hypopharynx|cancer of hypopharynx|hypopharyngeal cancer|hypopharyngeal throat cancer|hypopharynx carcinoma NCIT:C9465|EFO:0002938 Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx owl:Class NCBITaxon:37727 biolink:NamedThing Talaromyces marneffei tmpak2llvmy_mondo_relaxed.owl Penicillium marneffei GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2752537 biolink:NamedThing Talaromyces sect. Talaromyces tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015644 biolink:NamedThing audiogenic seizures Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). tmpak2llvmy_mondo_relaxed.owl Orphanet:166415|ICD10:G40.8|UMLS:C0751791|SCTID:765216006 owl:Class MONDO:0011819 biolink:NamedThing spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 19 and 22|SCA19/22|spinocerebellar ataxia 19|spinocerebellar ataxia type 19|SCA19|spinocerebellar ataxia 22 OMIM:607346|MESH:C537198|ICD10:G11.2|SCTID:719251009|GARD:0012365|DOID:0050970|MESH:C542540|Orphanet:98772 owl:Class MONDO:0008045 biolink:NamedThing spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. tmpak2llvmy_mondo_relaxed.owl myoclonus, hereditary, with progressive distal muscular atrophy|spinal muscular atrophy with progressive myoclonic epilepsy|SMAPME|hereditary myoclonus and progressive distal muscular atrophy|hereditary myoclonus-progressive distal muscular atrophy syndrome|myoclonus hereditary progressive distal muscular atrophy|Jankovic Rivera syndrome|Jankovic-Rivera syndrome MESH:C537563|GARD:0003875|Orphanet:2590|UMLS:C1834569|ICD9:345.10|ICD10:G25.3|OMIM:159950|SCTID:703524005|DOID:0111527|GARD:0003044 owl:Class MONDO:0017022 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a systemic vasculitis tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic vasculitis 2022-03-01 Orphanet:264709|UMLS:CN202335 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class CL:0009036 biolink:NamedThing appendix macrophage A macrophage located in the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl macrophage of appendix|macrophage of vermiform appendix|macrophage of appendix vermiformis owl:Class MONDO:0000545 biolink:NamedThing sublingual gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the sublingual gland. tmpak2llvmy_mondo_relaxed.owl sublingual gland adenoid cystic carcinoma DOID:0050930 owl:Class OBO:MF_0000033 biolink:NamedThing mental disposition A mental disposition is a bodily disposition that is realized in a mental process. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MF_0000032 biolink:NamedThing bodily disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20347 biolink:NamedThing VIPAS39 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010074 biolink:NamedThing brachyolmia type 1, toledo type tmpak2llvmy_mondo_relaxed.owl brachyolmia type 1, Toledo type|PAPS-chondroitin sulfate sulfotransferase deficiency|Sed, chondroitin sulfate type|BCYM1B|spondyloepiphyseal dysplasia tarda, Toledo type Orphanet:93303|MESH:C535787|OMIM:271630|UMLS:C1849048 owl:Class MONDO:0011322 biolink:NamedThing Oroacral syndrome, Verloes-Koulischer type tmpak2llvmy_mondo_relaxed.owl Oroacral syndrome, Verloes-Koulischer type OMIM:603446|UMLS:C1863879|MESH:C566374 owl:Class HGNC:8912 biolink:NamedThing PHB tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011133 biolink:NamedThing intermetatarsal joint A joint that connects two adjacent metatarsals tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020384 biolink:NamedThing Niemann-Pick disease type E Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. tmpak2llvmy_mondo_relaxed.owl Orphanet:99022|SCTID:73399005|ICD10:E75.2 owl:Class MONDO:0001982 biolink:NamedThing Niemann-Pick disease A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. tmpak2llvmy_mondo_relaxed.owl type A Niemann-Pick disease|sphingomyelin lipidosis|lipoid histiocytosis (classical phosphatide)|sphingomyelin/cholesterol lipidosis|lipoid histiocytosis|Niemann-Pick disease, subacute juvenile form|Niemann-Pick disease with cholesterol esterification block|sphingomyelinase deficiency disease ICD10:E75.24|GARD:0013334|MESH:D009542|DOID:14504|EFO:1001380|NCIT:C61269|UMLS:C0028064|SCTID:58459009|ICD10:E75.242|ICD10:E75.249 owl:Class MONDO:0019324 biolink:NamedThing pemphigus foliaceus Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. tmpak2llvmy_mondo_relaxed.owl PF UMLS:C0263313|SCTID:35154004|EFO:0008601|Orphanet:79481|GARD:0007354|ICD10:L10.2|MedDRA:10057069|HGNC:3050 https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus owl:Class GO:0110110 biolink:NamedThing positive regulation of animal organ morphogenesis Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035649 biolink:NamedThing nerve of penis Any nerve that innervates the penis. tmpak2llvmy_mondo_relaxed.owl penis nerve|penile nerve owl:Class UBERON:0012054 biolink:NamedThing myocoele The cavity within a myotome tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002046 biolink:NamedThing alcohol abuse The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice. tmpak2llvmy_mondo_relaxed.owl addiction, alcohol|ethanol abuse|alcohol abuse|dependence, alcohol|alcohol addiction|abuse, alcohol|alcoholism|intoxication, chronic alcoholic|chronic alcoholic intoxication|alcoholic intoxication, chronic|alcohol use disorder|alcohol dependence ICD9:305.00|DOID:1574|ICD10:F10.1|ICD9:305.0|MESH:D000437|SCTID:15167005 owl:Class MONDO:0022572 biolink:NamedThing bilateral renal agenesis dominant type tmpak2llvmy_mondo_relaxed.owl GARD:0000885 https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type owl:Class MONDO:0015986 biolink:NamedThing bilateral renal agenesis Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. tmpak2llvmy_mondo_relaxed.owl renal agenesis, bilateral|bilateral renal aplasia DOID:0080200|Orphanet:1848|ICD10:Q60.1|NCIT:C101219 owl:Class UBERON:0005990 biolink:NamedThing aortic valve cusp The three fibrous triangular components and associated flap of the aortic valve tmpak2llvmy_mondo_relaxed.owl aortic semilunar valvule|cusp of aortic valve|semilunar valvule of aortic valve|aortic valvular cusp owl:Class HGNC:17820 biolink:NamedThing NT5C3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010127 biolink:NamedThing thymoma, familial An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl thymoma, familial|hereditary thymoma (disease)|thymic neoplasia MESH:C564767|OMIM:274230|UMLS:C1848814 owl:Class GO:0009755 biolink:NamedThing hormone-mediated signaling pathway A series of molecular signals mediated by the detection of a hormone. tmpak2llvmy_mondo_relaxed.owl hormone mediated signalling owl:Class UBERON:0004189 biolink:NamedThing glomerular endothelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus tmpak2llvmy_mondo_relaxed.owl endothelium of renal glomerulus|renal glomerulus endothelium owl:Class MONDO:0012609 biolink:NamedThing Alzheimer disease 12 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease 12|Alzheimer disease type 12|Alzheimer disease, familial, 12|Alzheimer disease familial 12|Alzheimer's disease 12|Ad12|AD12|Alzheimer's disease type 12 DOID:0110045|UMLS:C1970209|ICD10:G30|MESH:C567022|OMIM:611073 owl:Class MONDO:0013318 biolink:NamedThing early repolarization associated with ventricular fibrillation tmpak2llvmy_mondo_relaxed.owl early repolarization associated with ventricular fibrillation|early repolarization syndrome OMIM:613601|UMLS:C3150852 owl:Class MONDO:0008782 biolink:NamedThing amyotrophic lateral sclerosis with polyglucosan bodies tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis with polyglucosan bodies MESH:C565955|OMIM:205250|UMLS:C1859805 Not in the OMIM series. owl:Class MONDO:0019372 biolink:NamedThing solitary bone cyst A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. tmpak2llvmy_mondo_relaxed.owl bone cyst|simple bone cyst|solitary cyst|cyst of the bone|cyst of bone|unicameral bone cyst Orphanet:83468|MESH:D001845|ICD10:M85.4|NCIT:C2904|ICD9:733.21|SCTID:203467005 Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT owl:Class MONDO:0009752 biolink:NamedThing neuropathy, painful tmpak2llvmy_mondo_relaxed.owl neuropathy, painful UMLS:C1850383|MESH:C564945|OMIM:256870 owl:Class MONDO:0002722 biolink:NamedThing olfactory nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. tmpak2llvmy_mondo_relaxed.owl cranial nerve I neoplasms|first cranial nerve neoplasm|olfactory nerve neoplasm|tumor of first cranial nerve|first cranial nerve tumor|neoplasm of first cranial nerve|olfactory neural neoplasm|olfactory nerve neoplasm (disease)|tumor of the first cranial nerve|neoplasms, olfactory nerve|tumor of the olfactory nerve|neoplasms, cranial nerve I|first cranial nerve neoplasms|neoplasm of the olfactory nerve|olfactory nerve neoplasms|olfactory nerve tumor|olfactory neural tumor|neoplasm of the first cranial nerve|tumor of olfactory nerve|neoplasm of olfactory nerve SCTID:126967000|DOID:8256|ICD9:239.7|UMLS:C0346319|NCIT:C5121|DOID:366 owl:Class MONDO:0016407 biolink:NamedThing oligomeganephronia Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. tmpak2llvmy_mondo_relaxed.owl Oligomeganephronic renal hypoplasia UMLS:C0431694|GARD:0004066|GARD:4066|SCTID:18417009|DOID:0111142|ICD10:Q60.4|Orphanet:2260|NCIT:C123202 owl:Class HP:0008873 biolink:NamedThing Disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. tmpak2llvmy_mondo_relaxed.owl Short limb dwarfism|Brachymelic dwarfism|Dwarfism, short-limbed|Disproportionate short limb dwarfism|Short stature, disproportionate short limb|Short stature, disproportionate short-limb|Short limb dwarfism, disproportionate|Short-limb dwarfism|Short-limbed dwarfism|Micromelic dwarfism UMLS:C1849937 A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). HP:0003505|HP:0008880|HP:0008912|HP:0008869|HP:0008875|HP:0008928|HP:0008881|HP:0008889|HP:0001523|HP:0008858|HP:0008914|HP:0003509 human_phenotype owl:Class MONDO:0008923 biolink:NamedThing autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. tmpak2llvmy_mondo_relaxed.owl Ppkca, Wallis type|palmoplantar keratoderma and congenital alopecia 2|PPKCA2|cataract, alopecia, sclerodactyly syndrome|cataract, alopecia, sclerodactyly|palmoplantar keratoderma and congenital alopecia, Wallis type|cataract-alopecia-sclerodactyly syndrome|palmoplantar keratoderma and congenital alopecia type 2|PPK-CA, Wallis type|cass|autosomal recessive palmoplantar hyperkeratosis and congenital alopecia UMLS:C1859316|Orphanet:1366|GARD:0001139|ICD10:Q84.0|DOID:0111245|ICD10:Q82.8|OMIM:212360|MESH:C535336 https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia owl:Class MONDO:0024555 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 1 tmpak2llvmy_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 1|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|VL|Van Der Knaap disease|leukoencephalopathy with swelling and cysts|MLC1|Lvm OMIM:604004|DOID:0080316 owl:Class MONDO:0016157 biolink:NamedThing qualitative or quantitative defects of fukutin tmpak2llvmy_mondo_relaxed.owl Orphanet:207122 owl:Class MONDO:0030877 biolink:NamedThing cardioacrofacial dysplasia 2 tmpak2llvmy_mondo_relaxed.owl CAFD2|cardioacrofacial dysplasia 2 OMIM:619143 owl:Class GO:0031300 biolink:NamedThing intrinsic component of organelle membrane The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpak2llvmy_mondo_relaxed.owl intrinsic to organelle membrane owl:Class HGNC:8850 biolink:NamedThing PEX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011249 biolink:NamedThing torsion dystonia with onset in infancy A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. tmpak2llvmy_mondo_relaxed.owl torsion dystonia with onset in infancy UMLS:C1865205|MESH:C536969|OMIM:602554|ICD10:G24.1|DOID:0090058 owl:Class MONDO:0007492 biolink:NamedThing early-onset generalized limb-onset dystonia A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. tmpak2llvmy_mondo_relaxed.owl early-onset generalized torsion dystonia|dystonia 1|early-onset primary dystonia|early-onset generalized limb-onset dystonia|early onset torsion dystonia|DYT-TOR1A|dystonia 1, torsion, Autosomal dominant|Early-onset torsion dystonia|idiopathic torsion dystonia|early onset primary dystonia|EOTD|early-onset torsion dystonia|dystonia musculorum deformans 1|DYT1|Dyt1|torsion dystonia 1, autosomal dominant|idiopathic dystonia DYT1|Oppenheim dystonia|torsion dystonia type 1|dystonia musculorum deformans|DYT-TOR1A dystonia|idiopathic dystonia|Oppenheim's dystonia|Primary torsion dystonia|torsion dystonia 1|dystonia 1, torsion, autosomal dominant|Early-onset Primary dystonia ICD10:G24.1|UMLS:C3888090|Orphanet:256|DOID:0060730|UMLS:C0013423|NCIT:C116718|OMIM:128100|MESH:C538005|GARD:0002027 MONDO:0023033 https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia owl:Class NCBITaxon:287 biolink:NamedThing Pseudomonas aeruginosa tmpak2llvmy_mondo_relaxed.owl Bacillus pyocyaneus|Bacillus aeruginosus|Pseudomonas polycolor|Bacterium pyocyaneum|Pseudomonas pyocyanea|probable synonym or variety: "Pseudomonas polycolor" Clara 1930|Micrococcus pyocyaneus|Bacterium aeruginosum GC_ID:11 NCBITaxon:931957|NCBITaxon:1508364|NCBITaxon:1437769|NCBITaxon:1607811|NCBITaxon:931958|NCBITaxon:1437770|NCBITaxon:932477|NCBITaxon:1683561|NCBITaxon:912077|NCBITaxon:931956|NCBITaxon:1437768|NCBITaxon:1607813|NCBITaxon:1683559|NCBITaxon:1224290|NCBITaxon:665948|NCBITaxon:1860124|NCBITaxon:1851858|NCBITaxon:931955|NCBITaxon:1851865 ncbi_taxonomy owl:Class UBERON:0004937 biolink:NamedThing submucosa of pylorus A submucosa that is part of a pylorus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pyloric submucosa|stomach pyloric region submucosa|pylorus submucosa|pyloric part of stomach submucosa|submucosa of stomach pyloric region|submucosa of pyloric part of stomach owl:Class MONDO:0009055 biolink:NamedThing cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. tmpak2llvmy_mondo_relaxed.owl cutis marmorata telangiectatica congenita (disease)|CMTC|cutis marmorata telangiectatica congenita|Van Lohuizen syndrome|hereditary cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita (disease) SCTID:254778000|ICD10:Q82.8|GARD:0006228|MESH:C536226|HP:0025107|OMIM:219250|Orphanet:1556|ICD9:757.8 owl:Class MONDO:0043254 biolink:NamedThing papular urticaria tmpak2llvmy_mondo_relaxed.owl prurigo simplex|strophulus|bullous papular urticaria - type|urticaria papulosa of hebra|lichen urticatus|papular urticaria SCTID:55608001|MESH:C537169|GARD:0007322 owl:Class MONDO:0006555 biolink:NamedThing granulomatous dermatitis An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. tmpak2llvmy_mondo_relaxed.owl NCIT:C3505|DOID:4397|UMLS:C0743086|EFO:1000705 owl:Class MONDO:0009492 biolink:NamedThing succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. tmpak2llvmy_mondo_relaxed.owl SCOT deficiency|ketoacidosis due to Scot deficiency|succinyl-CoA acetoacetate transferase deficiency|succinyl-CoA:3-ketoacid CoA transferase deficiency|3-oxoacid CoA transferase deficiency|succinyl-Coa:acetoacetate transferase deficiency|OXCT1 deficiency|SCOTD|succinyl-CoA:3-oxoacid-CoA transferase deficiency|Scot deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency SCTID:238004006|GARD:0004774|OMIM:245050|ICD9:270.8|MESH:C537527|Orphanet:832|ICD10:E71.3 owl:Class MONDO:0019229 biolink:NamedThing inborn disorder of ketolysis An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process. tmpak2llvmy_mondo_relaxed.owl inborn ketone body catabolic process disorder|disorder of ketolysis|inborn error of ketone body catabolic process|rare inborn error of ketone body catabolic process UMLS:CN227594|ICD10:E71.3|Orphanet:79183 owl:Class HGNC:18475 biolink:NamedThing ZDHHC9 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16912 biolink:NamedThing EMG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010277 biolink:NamedThing syndromic X-linked intellectual disability Shashi type X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl mental retardation X-linked Shashi type|mental retardation, X-linked, syndromic 11|mental retardation, X-linked, Shashi type|syndromic X-linked intellectual disability type 11|MRXS11|SMRXS|intellectual disability, X-linked, Shashi type|Shashi X-linked mental retardation syndrome|intellectual disability, X-linked, syndromic 11|Shashi X-linked intellectual disability syndrome|intellectual disability X-linked syndromic 11|X-linked intellectual disability Shashi type|X-linked intellectual disability, Shashi type|intellectual disability, X-linked, syndromic 11, Shashi type|intellectual disability X-linked Shashi type|mental retardation X-linked syndromic 11|X-linked mental retardation Shashi type|mental retardation, X-linked, syndromic 11, Shashi type SCTID:718900002|GARD:0004119|DOID:0060826|UMLS:C4305085|UMLS:C1846145|MESH:C537135|ICD10:Q87.8|OMIM:300238|Orphanet:85286 owl:Class MONDO:0010688 biolink:NamedThing hereditary sensory neuropathy X-linked A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary sensory, X-linked OMIM:310470|MESH:C564090|DOID:0070159|UMLS:C1839602 owl:Class MONDO:0012822 biolink:NamedThing colorectal cancer, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, 6|CRCS6|colorectal cancer, susceptibility to, on chromosome 8Q23 OMIM:612231 owl:Class MONDO:0007167 biolink:NamedThing atelosteogenesis type I Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. tmpak2llvmy_mondo_relaxed.owl AO1|spondylohumerofemoral hypoplasia|atelosteogenesis, type 1|spondylo-humero-femoral dysplasia|giant cell chondrodysplasia|atelosteogenesis type 1|atelosteogenesis, type I|AOI GARD:0009287|OMIM:108720|ICD10:Q78.8|SCTID:725141006|MESH:C535396|Orphanet:1190 owl:Class MONDO:0007381 biolink:NamedThing epithelial recurrent erosion dystrophy Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. tmpak2llvmy_mondo_relaxed.owl dystrophia Helsinglandica|corneal erosions, recurring hereditary|recurrent hereditary corneal erosions|epithelial recurrent erosion dystrophy|dystrophia Smolandiensis|ERED SCTID:715908008|DOID:0070337|ICD10:H18.5|UMLS:C1852551|Orphanet:293381|OMIM:122400|MESH:C565155 owl:Class MONDO:0014787 biolink:NamedThing severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome tmpak2llvmy_mondo_relaxed.owl corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia|CCAFCA|Birk-Flusser syndrome|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia UMLS:C4225193|OMIM:616819|Orphanet:466688 owl:Class GO:0022406 biolink:NamedThing membrane docking The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. tmpak2llvmy_mondo_relaxed.owl membrane docking owl:Class GO:0033603 biolink:NamedThing positive regulation of dopamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. tmpak2llvmy_mondo_relaxed.owl activation of dopamine secretion|upregulation of dopamine secretion|up regulation of dopamine secretion|up-regulation of dopamine secretion|stimulation of dopamine secretion owl:Class MONDO:0025491 biolink:NamedThing feline infectious peritonitis Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. tmpak2llvmy_mondo_relaxed.owl infectious peritonitides, feline|feline infectious peritonitides|peritonitis, feline infectious|peritonitis, infectious, feline|FIP|infectious peritonitis, feline MESH:D016766|UMLS:C0085306 owl:Class HGNC:21957 biolink:NamedThing KCTD7 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:48356 biolink:NamedThing protic solvent A polar solvent that is capable of acting as a hydron (proton) donor. tmpak2llvmy_mondo_relaxed.owl protogenic solvent owl:Class GO:0030518 biolink:NamedThing intracellular steroid hormone receptor signaling pathway A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. tmpak2llvmy_mondo_relaxed.owl steroid hormone receptor signalling pathway|steroid hormone receptor signaling pathway owl:Class UBERON:0003495 biolink:NamedThing respiratory system arteriole An arteriole that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003643 biolink:NamedThing respiratory system arterial blood vessel An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011241 biolink:NamedThing pseudoacromegaly with severe insulin resistance tmpak2llvmy_mondo_relaxed.owl pseudoacromegaly with severe insulin resistance MESH:C566531|UMLS:C1865284|OMIM:602511 owl:Class MONDO:0009674 biolink:NamedThing muscular dystrophy, adult-onset, with leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, adult-onset, with leukoencephalopathy UMLS:C1854646|OMIM:253590|MESH:C565361 owl:Class MONDO:0010903 biolink:NamedThing craniosynostosis, Adelaide type tmpak2llvmy_mondo_relaxed.owl CRSA|craniosynostosis, Adelaide type UMLS:C1833578|OMIM:600593|MESH:C563471 owl:Class MONDO:0011519 biolink:NamedThing autosomal dominant nonsyndromic deafness 23 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 23|autosomal dominant nonsyndromic deafness caused by mutation in SIX1|DFNA23|autosomal dominant deafness 23|deafness, autosomal dominant 23|deafness, autosomal dominant nonsyndromic sensorineural 23|SIX1 autosomal dominant nonsyndromic deafness|DFNA 23|deafness, autosomal dominant type 23 UMLS:C1854594|OMIM:605192|ICD10:H90.3|GARD:0001708|MESH:C565357|DOID:0110553 owl:Class NCBITaxon:6332 biolink:NamedThing Trichinellidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6329 biolink:NamedThing Trichinellida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:6331|NCBITaxon:36085 ncbi_taxonomy owl:Class MONDO:0010411 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 4 tmpak2llvmy_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic, 4|IHPS4 OMIM:300711|UMLS:C2678037|MESH:C567472 owl:Class MONDO:0010874 biolink:NamedThing enteropathy, familial, with villous edema and immunoglobulin G2 deficiency tmpak2llvmy_mondo_relaxed.owl enteropathy, familial, with villous edema and immunoglobulin G2 deficiency OMIM:600351|UMLS:C1838238|MESH:C563949 owl:Class MONDO:0009201 biolink:NamedThing facial abnormalities, kyphoscoliosis, and intellectual disability tmpak2llvmy_mondo_relaxed.owl facial abnormalities, kyphoscoliosis, and intellectual disability|facial abnormalities, kyphoscoliosis, and mental retardation UMLS:C1856893|OMIM:227250|MESH:C565580 owl:Class MONDO:0019831 biolink:NamedThing congenital anomaly of the coronary sinus tmpak2llvmy_mondo_relaxed.owl ICD10:Q21.1|Orphanet:95500 owl:Class MONDO:0003010 biolink:NamedThing multilocular clear cell renal cell carcinoma A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. tmpak2llvmy_mondo_relaxed.owl multilocular cystic renal cell cancer|multilocular cystic renal cell adenocarcinoma|multilocular clear cell adenocarcinoma|cystadenocarcinoma of kidney|renal cystadenocarcinoma|multilocular cystic renal cell carcinoma|multilocular clear cell carcinoma|multilocular clear cell renal cell adenocarcinoma|multilocular clear cell renal cell carcinoma|MCRCC|multilocular cystic renal neoplasm of low malignant potential|multilocular cystic clear cell renal cell neoplasm of low malignant potential SCTID:254916002|ICDO:8316/3|Orphanet:319287|UMLS:C0346249|DOID:4463|ICD9:189.0|NCIT:C4524|ICD10:C64 owl:Class MONDO:0003214 biolink:NamedThing apocrine adenocarcinoma A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. tmpak2llvmy_mondo_relaxed.owl apocrine gland carcinoma|apocrine gland adenocarcinoma|carcinoma of apocrine gland|apocrine carcinoma|carcinoma of the apocrine gland|apocrine adenocarcinoma (morphologic abnormality) DOID:4933|NCIT:C4169|ICDO:8401/3|UMLS:C0334346|GARD:0012138|UMLS:C1706827 owl:Class ENVO:01001010 biolink:NamedThing hydrometeor A meteor which is primarily composed of water. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003077 biolink:NamedThing intraocular retinoblastoma Retinoblastoma restricted to local involvement. tmpak2llvmy_mondo_relaxed.owl intraocular retinoblastoma UMLS:C0278717|DOID:4653|NCIT:C7846 owl:Class MONDO:0008098 biolink:NamedThing mesomelic dwarfism, Nievergelt type tmpak2llvmy_mondo_relaxed.owl Nievergelt syndrome|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula|mesomelic dwarfism Nievergelt type|mesomelic dysplasia, Nievergelt type GARD:0003554|MESH:C536120|UMLS:C0432231|OMIM:163400|ICD10:Q78.8|SCTID:33979003|Orphanet:2633 owl:Class GO:0042582 biolink:NamedThing azurophil granule Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. tmpak2llvmy_mondo_relaxed.owl primary granule owl:Class GO:0060766 biolink:NamedThing negative regulation of androgen receptor signaling pathway Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl negative regulation of androgen receptor signalling pathway owl:Class MONDO:0006595 biolink:NamedThing perinatal jaundice due to hepatocellular damage Jaundice in perinates due to cellular damange of liver. tmpak2llvmy_mondo_relaxed.owl EFO:1000750|SCTID:10877007|UMLS:C0158976|DOID:11452|ICD9:774.4 owl:Class MONDO:0006584 biolink:NamedThing neonatal jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. tmpak2llvmy_mondo_relaxed.owl neonatal icterus|neonatal hyperbilirubinemia ICD10:P59.9|ICD9:774.6|DOID:2383|ICD9:774.5|MESH:D007567|EFO:1000739|UMLS:C0022353|SCTID:387712008 owl:Class MONDO:0032680 biolink:NamedThing global developmental delay with or without impaired intellectual development tmpak2llvmy_mondo_relaxed.owl GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT|GDDI OMIM:618330 owl:Class UBERON:0006920 biolink:NamedThing esophagus squamous epithelium A squamous epithelium that is part of a esophagus. tmpak2llvmy_mondo_relaxed.owl squamous epithelium of esophagus|esophageal squamous epithelium|squamous oesophageal epithelium owl:Class MONDO:0012288 biolink:NamedThing iridogoniodysgenesis and skeletal anomalies tmpak2llvmy_mondo_relaxed.owl iridogoniodysgenesis and skeletal anomalies MESH:C535534|GARD:0010058|UMLS:C1836074|OMIM:609515 https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies owl:Class MONDO:0044618 biolink:NamedThing CLCN4-related X-linked intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:485350 owl:Class GO:0046852 biolink:NamedThing positive regulation of bone remodeling Any process that activates or increases the frequency, rate or extent of bone remodeling. tmpak2llvmy_mondo_relaxed.owl activation of bone remodeling|up-regulation of bone remodeling|up regulation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling owl:Class CL:1000548 biolink:NamedThing kidney outer medulla collecting duct epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001062 cell owl:Class MONDO:0018314 biolink:NamedThing infantile-onset mesial temporal lobe epilepsy with severe cognitive regression A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. tmpak2llvmy_mondo_relaxed.owl Orphanet:391316|UMLS:CN204956|ICD10:G40.2 owl:Class MONDO:0012039 biolink:NamedThing myocardial infarction, susceptibility to tmpak2llvmy_mondo_relaxed.owl myocardial infarction, protection against|myocardial infarction, susceptibility to|susceptibility to myocardial infarction|myocardial infarction, susceptibility to, 1 OMIM:608446 owl:Class MONDO:0043264 biolink:NamedThing post-traumatic epilepsy Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) tmpak2llvmy_mondo_relaxed.owl seizure disorders, post-traumatic|seizure disorder, post traumatic|post-traumatic seizure disorders|post-traumatic epilepsy|concussive convulsion|seizures, early post-traumatic|Epilepsies, post-traumatic|early post traumatic seizures|Epilepsies, traumatic|seizures, late post-traumatic|concussive convulsions|post traumatic seizure disorder|epilepsy, traumatic|disorder, post-traumatic seizure|traumatic epilepsy|post-traumatic seizures, early|traumatic Epilepsies|early post-traumatic seizure|post-traumatic seizure, late|disorders, post-traumatic seizure|impact seizures|seizure, late post-traumatic|late post-traumatic seizures|post-traumatic seizure disorder|seizure disorder, post-traumatic|post-traumatic seizures, late|late post traumatic seizures|convulsions, concussive|late post-traumatic seizure|convulsion, concussive|PTE - post-traumatic epilepsy|seizure, early post-traumatic|impact seizure|post-traumatic Epilepsies|epilepsy, post traumatic|early post-traumatic seizures|post-traumatic seizure, early GARD:0007437|MESH:D004834|SCTID:75023009|UMLS:C0751126 owl:Class MONDO:0014717 biolink:NamedThing early-onset Lafora body disease Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10|EPM10 DOID:0111445|SCTID:733082001|ICD10:G40.3|OMIM:616640|UMLS:C4518574|Orphanet:324290|UMLS:C4225258 owl:Class MONDO:0008901 biolink:NamedThing Tel Hashomer camptodactyly syndrome Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. tmpak2llvmy_mondo_relaxed.owl Tel Hashomer camptodactyly syndrome|camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases OMIM:211960|Orphanet:3292|UMLS:C1859356|ICD10:Q74.0|SCTID:719946008|MESH:C536953|GARD:0005128 https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome owl:Class MONDO:0009697 biolink:NamedThing Lafora disease Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. tmpak2llvmy_mondo_relaxed.owl Epm2|epilepsy, progressive myoclonic, 2B|Melf|Lafora body disease|PME type 2|Lafora disease|epilepsy progressive myoclonic 2|Lafora body disorder|EPM2|progressive myoclonic epilepsy type 2|myoclonic epilepsy of Lafora|epilepsy, progressive myoclonic, 2A|Lafora progressive myoclonic epilepsy|progressive myoclonus epilepsy type 2|Lafora's disease MedDRA:10054030|SCTID:230425004|GARD:0008214|UMLS:C0751783|OMIM:254780|Orphanet:501|NCIT:C84804|MESH:D020192|DOID:3534|ICD10:G40.3 https://rarediseases.info.nih.gov/diseases/8214/lafora-disease owl:Class CHEBI:24734 biolink:NamedThing hydroxyphenylalanine tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010182 biolink:NamedThing hypercarotenemia and vitamin A deficiency, autosomal recessive tmpak2llvmy_mondo_relaxed.owl hypercarotenemia and vitamin A deficiency, autosomal recessive UMLS:C2678266|OMIM:277350|MESH:C567486 owl:Class MONDO:0007272 biolink:NamedThing hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. tmpak2llvmy_mondo_relaxed.owl Carotenoids, plasma level of, quantitative trait locus 1|HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant SCTID:726079008|OMIM:115300|ICD10:E50.8|Orphanet:199285|MESH:C567296 owl:Class HGNC:24323 biolink:NamedThing CARTPT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011501 biolink:NamedThing wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. tmpak2llvmy_mondo_relaxed.owl cortical defects, WORMIAN bones, and dentinogenesis imperfecta|Suarez-Stickler syndrome|cortical defects wormian bones and dentinogenesis imperfecta OMIM:604922|UMLS:C1858032|GARD:0010290|MESH:C565734|Orphanet:166277|ICD10:Q78.8 https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta owl:Class MONDO:0015000 biolink:NamedThing developmental and epileptic encephalopathy, 48 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene. tmpak2llvmy_mondo_relaxed.owl AP3B2 early infantile epileptic encephalopathy|DEE48|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, 48; EIEE48|epileptic encephalopathy, early infantile, type 48|epileptic encephalopathy, early infantile, 48|EIEE48 OMIM:617276|DOID:0080448|UMLS:C4310637 owl:Class MONDO:0007834 biolink:NamedThing islet cell adenomatosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. tmpak2llvmy_mondo_relaxed.owl Insulinomatosis and diabetes mellitus|islet cell adenomatosis|INSULINOMATOSIS and diabetes mellitus|INSDM|Nesidioblastosis MESH:C563258|UMLS:C1578917|OMIM:147630|SCTID:274944000|NCIT:C4375 owl:Class MONDO:0011590 biolink:NamedThing anisomastia tmpak2llvmy_mondo_relaxed.owl anisomastia MESH:C565299|OMIM:605746 owl:Class PO:0004010 biolink:NamedThing meristematic cell A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall. tmpak2llvmy_mondo_relaxed.owl 分裂組織細胞 (Japanese, exact)|stem cell (exact)|célula meristemática (Spanish, exact) CL:0000034|PO_GIT:272 plant_anatomy owl:Class HP:0004306 biolink:NamedThing Abnormal endocardium morphology An abnormality of the endocardium. tmpak2llvmy_mondo_relaxed.owl Abnormality of the endomycoardium|Abnormality of the endocardium UMLS:C4021662 peter 2008-02-20T01:23:00Z HP:0005260 human_phenotype owl:Class UBERON:0035416 biolink:NamedThing diaphragma sellae The diaphragma sellae or sellar diaphragm is the circular fold of dura mater that almost completely roofs the fossa hypophyseos in the sphenoid bone of the skull. It retains the pituitary gland in the fossa hypophyseos, with only the infundibulum of the pituitary gland passing through it. tmpak2llvmy_mondo_relaxed.owl sellar diaphragm owl:Class UBERON:0012317 biolink:NamedThing vagina orifice The median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice tmpak2llvmy_mondo_relaxed.owl orifice of vagina|vaginal orifice|vagina opening|vaginal introitus|opening of vagina|ostium vaginae|introitus|introitus of vagina owl:Class MONDO:0017941 biolink:NamedThing chikungunya An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. tmpak2llvmy_mondo_relaxed.owl Chikungunya virus infectious disease|CHIK|CHIKV infection|Chikungunya virus disease or disorder|Chikungunya fever|Chikungunya virus caused disease or disorder|CK|arbovirus A Chikungunya type|Chikungunya virus infection ICD10:A92.0|GARD:0006038|SCTID:111864006|NCIT:C128422|DOID:0050012|Orphanet:324625|UMLS:C0008055|MESH:D065632 https://rarediseases.info.nih.gov/diseases/6038/chikungunya owl:Class MONDO:0018093 biolink:NamedThing arbovirus fever Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. tmpak2llvmy_mondo_relaxed.owl Arbovirosis|arbovirus fever GARD:0000432|Orphanet:344|UMLS:CN227261 https://rarediseases.info.nih.gov/diseases/432/arbovirosis owl:Class CHEBI:35705 biolink:NamedThing immunosuppressive agent An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. tmpak2llvmy_mondo_relaxed.owl inmunosupresor|immunosuppressant|immunosuppressive agents owl:Class CHEBI:50846 biolink:NamedThing immunomodulator Biologically active substance whose activity affects or plays a role in the functioning of the immune system. tmpak2llvmy_mondo_relaxed.owl Biomodulator|immunomodulators|Immune factor|Immunological factor|Immunologic factor owl:Class HGNC:6440 biolink:NamedThing KRT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014586 biolink:NamedThing congenital myasthenic syndrome 4B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, 4B, FAST-channel|CMS4B|congenital myasthenic syndrome 4B fast-channel|congenital myasthenic syndrome type 4B UMLS:C4225369|OMIM:616324|DOID:0110677 owl:Class HP:0100529 biolink:NamedThing Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. tmpak2llvmy_mondo_relaxed.owl Abnormality of phosphate homeostasis UMLS:C4022032 doelkens 2010-12-20T11:58:32Z human_phenotype owl:Class HGNC:11540 biolink:NamedThing TAF6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007465 biolink:NamedThing distichiasis with congenital anomalies of the heart and peripheral vasculature tmpak2llvmy_mondo_relaxed.owl distichiasis with congenital anomalies of the heart and peripheral vasculature|distichiasis-congenital heart defects-peripheral vascular anomalies syndrome MESH:C565092|Orphanet:1683|OMIM:126320|UMLS:C1852062 owl:Class MONDO:0001687 biolink:NamedThing diabetic cataract tmpak2llvmy_mondo_relaxed.owl cataract - diabetic DOID:13328|ICD10:H28.0|SCTID:43959009|ICD9:366.41|UMLS:C0011876 owl:Class HP:0002718 biolink:NamedThing Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. tmpak2llvmy_mondo_relaxed.owl Bacterial infections, recurrent|Recurrent pyogenic infections|Recurrent major bacterial infections|Frequent bacterial infections|Susceptibility to pyogenic infection|Frequent pyogenic infections|Prone to bacterial infection|Recurrent bacterial infections|Increased susceptibility to bacterial infections SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958|UMLS:C4020846 HP:0005410|HP:0005355|HP:0005391|HP:0005367|HP:0005361|HP:0005393 human_phenotype owl:Class MONDO:0043576 biolink:NamedThing endarteritis Inflammation of the arterial intima. tmpak2llvmy_mondo_relaxed.owl Endarteritides|tunica intima of artery inflammation|endarteritis|inflammation of tunica intima of artery MESH:D004692|EFO:0009084|UMLS:C0014100|NCIT:C34581|SCTID:33806008 owl:Class MONDO:0017736 biolink:NamedThing disorder of sialic acid metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:C0342851|ICD10:E77.8|Orphanet:309319|ICD9:277.89|SCTID:238050009 owl:Class MONDO:0033047 biolink:NamedThing Perrault syndrome 6 tmpak2llvmy_mondo_relaxed.owl Perrault syndrome 6|PRLTS6 DOID:0080256|UMLS:C4479656|OMIM:617565 owl:Class UBERON:0003462 biolink:NamedThing facial bone A bone that is part of a facial skeleton [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl viscerocranium bone|bone of viscerocranium|bone of facial skeleton|facial skeleton bone|facial bone owl:Class MONDO:0003219 biolink:NamedThing gastroesophageal junction adenocarcinoma A carcinoma that arises from glandular epithelial cells of the esophagogastric junction. tmpak2llvmy_mondo_relaxed.owl gastroesophageal junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction|adenocarcinoma of the GE junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma - GEJ|adenocarcinoma of the gastroesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of gastroesophageal junction|adenocarcinoma of cardioesophageal junction|esophagogastric adenocarcinoma|adenocarcinoma of the EG junction DOID:4944|UMLS:C1332166|ONCOTREE:EGC|NCIT:C9296|ONCOTREE:GEJ owl:Class MONDO:0021088 biolink:NamedThing papillary meningioma A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. tmpak2llvmy_mondo_relaxed.owl papillary meningioma ONCOTREE:PPM|ICDO:9538/3|NCIT:C3904|UMLS:C3163622 owl:Class GO:0032058 biolink:NamedThing positive regulation of translational initiation in response to stress Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl up regulation of translation initiation in response to stress|stimulation of translation initiation in response to stress|up-regulation of translation initiation in response to stress|upregulation of translation initiation in response to stress|activation of translation initiation in response to stress owl:Class MONDO:0004563 biolink:NamedThing physiological polycythemia Polycythemia that is not pathologic. tmpak2llvmy_mondo_relaxed.owl DOID:8431|NCIT:C27311|UMLS:C0856817 owl:Class FOODON:03420178 biolink:NamedThing seed part tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023644 biolink:NamedThing lip and oral cavity carcinoma A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl oral carcinoma|lip and oral cavity cancer|oral cancer|lip and oral cavity carcinoma UMLS:C0220641|NCIT:C9315|GARD:0009342|GARD:0009360 https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer owl:Class MONDO:0019768 biolink:NamedThing X-linked intellectual disability, Golabi-Ito-hall type Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpak2llvmy_mondo_relaxed.owl Orphanet:93947|UMLS:CN206703 owl:Class GO:0055070 biolink:NamedThing copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl copper homeostasis owl:Class HGNC:8967 biolink:NamedThing PIGN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008604 biolink:NamedThing triphalangeal thumb with double phalanges tmpak2llvmy_mondo_relaxed.owl triphalangeal thumb with double phalanges OMIM:190500|MESH:C566028|UMLS:C1860807 owl:Class MONDO:0008251 biolink:NamedThing familial pityriasis rubra pilaris A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. tmpak2llvmy_mondo_relaxed.owl pityriasis rubra pilaris--familial type|pityriasis rubra pilaris|hereditary pityriasis rubra pilaris|PRP|Devergie's disease UMLS:C2930842|ICD9:696.4|OMIM:173200|ICD10:L44.0|GARD:0007401|Orphanet:2897|MESH:C531784|MedDRA:10035116 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0006145 biolink:NamedThing chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. tmpak2llvmy_mondo_relaxed.owl chondroid chordoma (morphologic abnormality)|chondroid chordoma ICDO:9371/3|EFO:1000174|DOID:4152|UMLS:C1266173|NCIT:C6902 owl:Class MONDO:0002486 biolink:NamedThing lobular neoplasia A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. tmpak2llvmy_mondo_relaxed.owl lobular neoplasia|LIN|LN|lobular intraepithelial neoplasia UMLS:C0861352|DOID:3010|NCIT:C27939 owl:Class NCBITaxon:35790 biolink:NamedThing Rickettsia japonica tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:1581190|PMID:2516664 ncbi_taxonomy owl:Class MONDO:0020732 biolink:NamedThing progeria tmpak2llvmy_mondo_relaxed.owl OMIMPS:176670 owl:Class MONDO:0007525 biolink:NamedThing Ehlers-Danlos syndrome, arthrochalasis type Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. tmpak2llvmy_mondo_relaxed.owl EDS7A (formerly)|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|EDS 7B|Ehlers-Danlos syndrome, arthrochalasia type, 1|EDSARTH1|EDS VII, mutant procollagen type|EDS VII|arthrochalasia EDS|Ehlers-Danlos syndrome, arthrochalasia type|Ehlers-Danlos syndrome, type VII, autosomal dominant|EDS 7A|Ehlers-Danlos syndrome type 7A (formerly)|arthrochalasis multiplex congenita|Ehlers-Danlos syndrome type 7|AEDS|Ehlers-Danlos syndrome, type VII UMLS:CN200649|MESH:C562625|ICD10:Q79.6|Orphanet:1899|SCTID:4170004|NCIT:C125701|OMIM:130060|GARD:0002084 https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome owl:Class MONDO:0008466 biolink:NamedThing Karsch-Neugebauer syndrome Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. tmpak2llvmy_mondo_relaxed.owl split hand split foot nystagmus|split hand nystagmus syndrome|KNS|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts|Karsch-Neugebauer syndrome|Nystagmus-split hand syndrome|split hand/split foot-nystagmus syndrome Orphanet:2329|MESH:C537319|OMIM:183800|ICD10:Q87.2|UMLS:C1866740|GARD:0004967|SCTID:722032005 owl:Class MONDO:0033570 biolink:NamedThing combined oxidative phosphorylation deficiency 50 tmpak2llvmy_mondo_relaxed.owl COXPD50|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 OMIM:619025 owl:Class MONDO:0020368 biolink:NamedThing Axenfeld anomaly Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies. tmpak2llvmy_mondo_relaxed.owl SCTID:204152008|Orphanet:98978|ICD9:743.44|MedDRA:10058653|ICD10:Q15.0 owl:Class NCBITaxon:40411 biolink:NamedThing Chrysosporium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0000222 biolink:NamedThing mesodermal cell A cell of the middle germ layer of the embryo. tmpak2llvmy_mondo_relaxed.owl mesoderm cell|mesoblast FMA:72554 cell owl:Class UBERON:2005260 biolink:NamedThing fenestrated capillary Capillary that has pores in the endothelial cells (60-80 nm in diameter) that are spanned by a diaphragm of radially oriented fibrils and allow small molecules and limited amounts of protein to diffuse tmpak2llvmy_mondo_relaxed.owl fenestrated capillary vessel|fenestrated blood vessel endothelium owl:Class MONDO:0100005 biolink:NamedThing primary mast cell activation syndrome Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected. tmpak2llvmy_mondo_relaxed.owl primary MACS 2018-07-17 21:43:00+00:00 owl:Class HGNC:23038 biolink:NamedThing LMBRD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000618 biolink:NamedThing Her2-receptor negative breast cancer tmpak2llvmy_mondo_relaxed.owl DOID:0060080 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class MONDO:0017380 biolink:NamedThing juvenile polyposis syndrome Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. tmpak2llvmy_mondo_relaxed.owl jPS|PJI|juvenile multiple polyps syndrome|polyposis juvenile intestinal|JIP|polyposis familial of entire gastrointestinal tract|juvenile polyposis syndrome|juvenile polyposis|juvenile gastrointestinal polyposis|juvenile intestinal polyposis SCTID:9273005|UMLS:C0345893|ICD10:D12.6|Orphanet:2929|NCIT:C7754|OMIM:174900|GARD:0003065 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class MONDO:0013028 biolink:NamedThing adenosine monophosphate deaminase deficiency Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. tmpak2llvmy_mondo_relaxed.owl AMP deaminase deficiency|myoadenylate deaminase deficiency Orphanet:45|MESH:C538234|SCTID:9105005|ICD10:G71.3|ICD9:277.2 owl:Class HGNC:8533 biolink:NamedThing P2RX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001081 biolink:NamedThing acute cervicitis Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. tmpak2llvmy_mondo_relaxed.owl cervicitis (disease), acute|acute cervicitis (disease) DOID:10616|UMLS:C0269061|SCTID:19272000|NCIT:C27056 owl:Class MONDO:0017555 biolink:NamedThing radio-ulnar synostosis, bilateral tmpak2llvmy_mondo_relaxed.owl radio-ulnar fusion, bilateral Orphanet:295219|UMLS:CN203291|ICD10:Q74.0 owl:Class MONDO:0043777 biolink:NamedThing rhinophyma Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose. tmpak2llvmy_mondo_relaxed.owl hypertrophic rosacea|rhinophyma|Rhinophymas NCIT:C34989|UMLS:C0035466|SCTID:19877001|MESH:D012224 owl:Class CL:0000595 biolink:NamedThing enucleate erythrocyte An erythrocyte lacking a nucleus. tmpak2llvmy_mondo_relaxed.owl red blood cell|RBC cell owl:Class MONDO:0020492 biolink:NamedThing hemimegalencephaly Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. tmpak2llvmy_mondo_relaxed.owl unilateral megalencephaly|macrencephaly UMLS:C0431391|ICD10:Q04.5|MESH:D065705|GARD:0002637|Orphanet:99802|ICD9:742.4|SCTID:253170008 https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly owl:Class MONDO:0010442 biolink:NamedThing 46,XX sex reversal 3 tmpak2llvmy_mondo_relaxed.owl 46,XX sex reversal 3|46,XX Sex reversal type 3|46,XX Sex reversal, Sox3-related|SRXX3|chromosome Xq26 Duplication syndrome|chromosome Xq26 deletion syndrome|46,XX SEX reversal 3 UMLS:C3151782|OMIM:300833|DOID:0111762 owl:Class MONDO:0044795 biolink:NamedThing epithelioid cell nevus A nevus characterized by the presence of large epithelioid melanocytes. tmpak2llvmy_mondo_relaxed.owl epithelioid cell nevus UMLS:C0259820|NCIT:C66757 owl:Class MONDO:0044793 biolink:NamedThing spitz nevus A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. tmpak2llvmy_mondo_relaxed.owl spitz nevi|spindle and/ or epithelioid cell Nevus|juvenile nevus|spitz nevus|benign juvenile melanoma|spitz naevus GARD:0010412|NCIT:C27007|ICDO:8770/0 owl:Class MONDO:0019308 biolink:NamedThing junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. tmpak2llvmy_mondo_relaxed.owl EBJ-I|inverse JEB|JEB-I UMLS:C2673609|ICD10:Q81.8|Orphanet:79405|UMLS:C2673610|GARD:0002143 owl:Class NCBITaxon:11909 biolink:NamedThing Human T-lymphotropic virus 2 tmpak2llvmy_mondo_relaxed.owl human T-cell lymphotropic virus type II HTLV-II|Human T-Cell leukemia virus type 2|Human lymphotropic virus type 2|HTLV-2|human T cell leukemia virus II HTLV-II|Human T-cell leukemia virus type II|human T lymphotropic virus type II HTLV-II|human T-cell leukemia virus II|HTLV-II|Human T-cell lymphotropic virus type 2|Human T-cell lymphotropic virus type II|Human T-lymphotropic virus Type II|Human lymphotropic virus type II GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:194441 biolink:NamedThing Primate T-lymphotropic virus 2 tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0006101 biolink:NamedThing citrate metabolic process The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. tmpak2llvmy_mondo_relaxed.owl citrate metabolism owl:Class GO:0072350 biolink:NamedThing tricarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl tricarboxylic acid metabolism owl:Class MONDO:0008973 biolink:NamedThing chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome OMIM:215105|Orphanet:79347|SCTID:715631005|ICD10:Q77.3|MESH:C565853 owl:Class MONDO:0015775 biolink:NamedThing non-rhizomelic chondrodysplasia punctata Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. tmpak2llvmy_mondo_relaxed.owl Orphanet:176|ICD10:Q77.3 owl:Class MONDO:0029136 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 23 tmpak2llvmy_mondo_relaxed.owl laminin subunit alpha 2-related limb-girdle muscular dystrophy R23|LGMDR23|muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM:618138|Orphanet:565837 owl:Class UBERON:0002804 biolink:NamedThing left limbic lobe A limbic lobe that is part of a left cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006034 biolink:NamedThing gastric adenosquamous carcinoma A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. tmpak2llvmy_mondo_relaxed.owl STAS|gastric (stomach) adenosquamous cancer|stomach adenosquamous carcinoma|gastric adenosquamous carcinoma|adenosquamous carcinoma of stomach|adenosquamous carcinoma of the stomach NCIT:C5474|UMLS:C1333761|DOID:5635|EFO:1000029|ONCOTREE:STAS owl:Class MONDO:0008971 biolink:NamedThing chondrodysplasia calcificans Metaphysealis tmpak2llvmy_mondo_relaxed.owl chondrodysplasia calcificans Metaphysealis GARD:0010613|MESH:C565855|OMIM:215050|UMLS:C1859147 https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis owl:Class MONDO:0009086 biolink:NamedThing deafness-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). tmpak2llvmy_mondo_relaxed.owl nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome|Groll-Hirschowitz syndrome|deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy MESH:C537305|OMIM:221400|SCTID:733071009|Orphanet:3217|GARD:0002568|UMLS:C1857338 owl:Class MONDO:0008665 biolink:NamedThing ptosis-vocal cord paralysis syndrome Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl tucker syndrome|ptosis vocal cord paralysis|congenital bilateral recurrent nerve paralysis and ptosis|vocal cord paralysis and ptosis Orphanet:2997|GARD:0000427|UMLS:C1860403|MESH:C536923|OMIM:193240 owl:Class MONDO:0001848 biolink:NamedThing Morgagni cataract A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag. tmpak2llvmy_mondo_relaxed.owl hypermature cataract|Morgagnian cataract SCTID:264443002|UMLS:C0152258|DOID:13964|ICD9:366.18 owl:Class GO:0009106 biolink:NamedThing lipoate metabolic process The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpak2llvmy_mondo_relaxed.owl lipoate metabolism|lipoic acid metabolic process|lipoic acid metabolism owl:Class MONDO:0016578 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. tmpak2llvmy_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies|OXPHOS disease due to nDNA anomalies 2022-03-01 UMLS:CN201731|Orphanet:2443 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class UBERON:0034979 biolink:NamedThing nonchromaffin paraganglion A cluster of chemoreceptive and support cells associated with blood vessels and nerves. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001324 biolink:NamedThing hyperandrogenism A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. tmpak2llvmy_mondo_relaxed.owl hyperandrogenization syndrome SCTID:237793004|EFO:0009006|UMLS:C0206081|MESH:D017588|DOID:11613 owl:Class MONDO:0017338 biolink:NamedThing fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. tmpak2llvmy_mondo_relaxed.owl multiple mitochondrial dysfunctions syndrome|MMDS|fatal multiple mitochondrial dysfunction syndrome GARD:0012632|Orphanet:289573|UMLS:CN202994|DOID:0070330|UMLS:CN234684|MESH:C565304|UMLS:C3502075|OMIMPS:605711|SCTID:720827002 owl:Class PATO:0002288 biolink:NamedThing decreased elasticity An elasticity which is relatively low. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001171 biolink:NamedThing elastic An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018477 biolink:NamedThing bilirubin encephalopathy tmpak2llvmy_mondo_relaxed.owl bilirubin encephalopathy|hyperbilirubinemic encephalopathy|kernicterus|kernicterus spectrum disorder MedDRA:10023376|NCIT:C84799|ICD10:P57.9|EFO:1001002|Orphanet:415286|GARD:0006830|ICD10:P57|SCTID:50143004|MESH:D007647|DOID:2382 owl:Class MONDO:0019346 biolink:NamedThing sialidosis type 1 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. tmpak2llvmy_mondo_relaxed.owl Normomorphic sialidosis|cherry-red spot-myoclonus syndrome|sialidosis type I|myoclonus cherry red spot syndrome|cherry red spot myoclonus syndrome|normosomatic sialidosis|lipomucopolysaccharidosis SCTID:34960006|Orphanet:812|UMLS:C0023806|ICD10:E77.1|UMLS:CN206021|GARD:0007639 owl:Class GO:0061007 biolink:NamedThing hepaticobiliary system process An system process carried out by any of the organs or tissues of the hepaticobiliary system. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. tmpak2llvmy_mondo_relaxed.owl hepatobiliary system process owl:Class MONDO:0033479 biolink:NamedThing spinocerebellar ataxia 44 tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 44|SCA44 OMIM:617691|DOID:0080286|UMLS:CN492437 owl:Class GO:1901661 biolink:NamedThing quinone metabolic process The chemical reactions and pathways involving quinone. tmpak2llvmy_mondo_relaxed.owl quinone cofactor metabolic process|quinone cofactor metabolism|quinone metabolism owl:Class MONDO:0008916 biolink:NamedThing cardiomyopathy associated with myopathy and sudden death tmpak2llvmy_mondo_relaxed.owl cardiomyopathy associated with myopathy and sudden death OMIM:212130|UMLS:C1859328|MESH:C565881 owl:Class MONDO:0007828 biolink:NamedThing indifference to pain, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MARSILI syndrome|indifference to pain, congenital, autosomal dominant|MARSIS|congenital analgesia, autosomal dominant|Marsili syndrome|insensitivity to pain, congenital, autosomal dominant MESH:C564128|OMIM:147430|UMLS:C1840219 owl:Class MONDO:0017924 biolink:NamedThing central nervous system calcification-deafness-tubular acidosis-anemia syndrome This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. tmpak2llvmy_mondo_relaxed.owl Yoshimura-Takeshita syndrome UMLS:CN204056|Orphanet:3240 owl:Class MONDO:0009458 biolink:NamedThing Schimke immuno-osseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. tmpak2llvmy_mondo_relaxed.owl Schimke immuno-osseous dysplasia|Schimke immunoosseous dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|Schimke syndrome|spondyloepiphyseal dysplasia - nephrotic syndrome|immunoosseous dysplasia Schimke type|IMMUNOOSSEOUS dysplasia, Schimke type|spondyloepiphyseal dysplasia nephrotic syndrome|SIOD|Schimke IMMUNOOSSEOUS dysplasia|Schimke Immunoosseous dysplasia ICD10:Q77.7|UMLS:C0877024|GARD:0004984|Orphanet:1830|MESH:C536629|SCTID:723995003|NCIT:C135087|OMIM:242900|MedDRA:10048699|DOID:0060490 owl:Class MONDO:0100418 biolink:NamedThing acute myeloid leukemia, KIT exon 17 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.) tmpak2llvmy_mondo_relaxed.owl AML, CD117 Exon 17 Mutation|AML, c-KIT Exon 17 Mutation|AML, KIT exon 17 mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation owl:Class HGNC:2208 biolink:NamedThing COL4A6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090066 biolink:NamedThing regulation of anatomical structure size Any process that modulates the size of an anatomical structure. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50817 biolink:NamedThing iron oxide mineral tmpak2llvmy_mondo_relaxed.owl iron oxide minerals owl:Class MONDO:0018358 biolink:NamedThing neonatal autoimmune hemolytic anemia tmpak2llvmy_mondo_relaxed.owl neonatal AIHA|neonatal AHA Orphanet:398109|ICD10:D59.1 owl:Class MONDO:0005616 biolink:NamedThing pulmonary mucoepidermoid carcinoma A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. tmpak2llvmy_mondo_relaxed.owl lung mucoepidermoid carcinoma|mucoepidermoid carcinoma of the lung|lung mucoepidermoid cancer NCIT:C45544|ONCOTREE:LUMEC|DOID:0050932|UMLS:C1708778|EFO:0006740 owl:Class GO:0010185 biolink:NamedThing regulation of cellular defense response Any process that modulates the frequency, rate or extent of cellular defense response. tmpak2llvmy_mondo_relaxed.owl regulation of cellular defence response owl:Class MONDO:0011157 biolink:NamedThing Gomez-Lopez-Hernandez syndrome Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. tmpak2llvmy_mondo_relaxed.owl Cerebellotrigeminal dermal dysplasia|GOMEZ-LOPEZ-HERNANDEZ syndrome|Cerebellotrigeminal-dermal dysplasia|craniosynostosis-alopecia-brain defect syndrome|Gomez Lopez Hernandez syndrome|GLHS|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Gomez-Lopez-Hernández syndrome|Gómez-López-Hernández syndrome|Gomez-Lopez-Hernandez syndrome|Cerebellotrigeminal-dermal dysplasia syndrome MESH:C537285|OMIM:601853|SCTID:722451006|Orphanet:1532|ICD10:Q07.8|GARD:0000229 https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome owl:Class HGNC:8789 biolink:NamedThing PDE6G tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000037 biolink:NamedThing Male pseudohermaphroditism Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:111332007|UMLS:C0238395|MSH:D058490 human_phenotype owl:Class HP:0000032 biolink:NamedThing Abnormality of male external genitalia An abnormality of male external genitalia. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025897 human_phenotype owl:Class HGNC:1514 biolink:NamedThing CASR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000461 biolink:NamedThing nutritional biotin deficiency tmpak2llvmy_mondo_relaxed.owl vitamine B7 deficiency|biotin deficiency disease|B7 deficiency|biotin deficiency DOID:0050810|SCTID:49607006|MESH:C531633 Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? owl:Class MONDO:0012253 biolink:NamedThing multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia ICD10:Q77.3|MESH:C563736|Orphanet:166029|UMLS:C1836315|OMIM:609324 owl:Class MONDO:0012378 biolink:NamedThing fibromatosis, gingival, 3 tmpak2llvmy_mondo_relaxed.owl fibromatosis, gingival, 3|hereditary gingival fibromatosis, 3|HGF3|GGF3|fibromatosis gingival, hereditary, 3|fibromatosis, gingival, hereditary, 3|GINGF3|gingival fibromatosis, 3 OMIM:609955|GARD:0009911|MESH:C537928 owl:Class MONDO:0006835 biolink:NamedThing lipoid nephrosis A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. tmpak2llvmy_mondo_relaxed.owl idiopathic minimal change nephrotic syndrome|minimal change glomerulopathy|minimal change glomerulonephritis|minimal change nephropathy|minimal change nephrotic syndrome|nil disease|nephrotic syndrome with lesion of minimal change glomerulonephritis|MCNS|minimal change disease|nephrotic syndrome with lesion of minimal change nephrotic syndrome|lipoid nephrosis EFO:1001020|DOID:10966|GARD:0009147|UMLS:C0027721|MESH:D009402|MedDRA:10058325|ICD10:N04|SCTID:44785005|NCIT:C34844 owl:Class GO:0031099 biolink:NamedThing regeneration The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012869 biolink:NamedThing intellectual disability, autosomal dominant 22 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant type 22|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|autosomal dominant intellectual disability 22|mental retardation, autosomal dominant type 22|chromosome 1Q43-q44 deletion syndrome|autosomal dominant mental retardation 22|MRD22|mental retardation, autosomal dominant 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|chromosome 1Qter deletion syndrome|intellectual disability, autosomal dominant 22|autosomal dominant non-syndromic intellectual disability 22 DOID:0070052|MESH:C567346|UMLS:C3808184|OMIM:612337 owl:Class MONDO:0016370 biolink:NamedThing Marchiafava-Bignami disease Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. tmpak2llvmy_mondo_relaxed.owl metabolic bone disease|MBD|chronic Marchiafava-Bignami syndrome|Marchiafava Bignami disease|metabolic bone disorder|acute Marchiafava-Bignami disease NCIT:C97045|MedDRA:10026828|GARD:0006971|ICD9:341.8|ICD10:G37.1|UMLS:C0238265|MESH:D054319|Orphanet:221074|EFO:1001809|SCTID:386766007 https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease owl:Class MONDO:0004416 biolink:NamedThing plasmacytoid variant infiltrating bladder urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, plasmacytoid variant|plasmacytoid/signet ring cell bladder carcinoma ONCOTREE:SRCBC|NCIT:C39823|DOID:7968|UMLS:C1512742 owl:Class NCBITaxon:1648037 biolink:NamedThing Poodae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147368 biolink:NamedThing Pooideae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0002979 biolink:NamedThing Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. tmpak2llvmy_mondo_relaxed.owl Bow legs|Bow-leggedness|Bowed legs|Bowed lower limbs UMLS:C0544755|MSH:D056305|SNOMEDCT_US:299331007 HP:0006428 human_phenotype owl:Class HP:0002981 biolink:NamedThing Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. tmpak2llvmy_mondo_relaxed.owl Abnormality of the calf UMLS:C4021832 human_phenotype owl:Class MONDO:0009972 biolink:NamedThing respiratory underresponsiveness to hypoxia and hypercapnia tmpak2llvmy_mondo_relaxed.owl respiratory underresponsiveness to hypoxia and hypercapnia MESH:C564848|OMIM:267480 owl:Class MONDO:0021112 biolink:NamedThing scrotum cancer A primary or metastatic malignant neoplasm affecting the scrotum. tmpak2llvmy_mondo_relaxed.owl scrotum cancer|malignant tumor of scrotum|malignant neoplasm of scrotum|malignant tumor of the scrotum|cancer of scrotum|malignant scrotal tumor|malignant scrotum neoplasm|malignant neoplasm of the scrotum|malignant scrotal neoplasm UMLS:C0153604|SCTID:363454002|ICD9:187.7|NCIT:C3560 owl:Class MONDO:0008122 biolink:NamedThing olivopontocerebellar atrophy 5 tmpak2llvmy_mondo_relaxed.owl olivopontocerebellar atrophy type 5|OPCA with dementia and extrapyramidal signs|OPCA V|olivopontocerebellar atrophy V 2021-01-01 OMIM:164700|MESH:C563505|UMLS:C1833995 Reason: duplicate. This will be merged with MONDO:0011781 spinocerebellar ataxia type 17 owl:Class CHEBI:38633 biolink:NamedThing sodium channel blocker An agent that inhibits sodium influx through cell membranes. tmpak2llvmy_mondo_relaxed.owl Na channel blocker|sodium channel blockers owl:Class MONDO:0006306 biolink:NamedThing mixed lobular and ductal breast carcinoma A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. tmpak2llvmy_mondo_relaxed.owl mixed lobular and ductal carcinoma of breast|mixed lobular and ductal carcinoma of the breast|mixed ductal and lobular carcinoma of the breast|mixed ductal and lobular carcinoma of breast|mixed lobular and ductal breast carcinoma|breast mixed ductal and lobular carcinoma|mixed lobular and ductal carcinoma|ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma NCIT:C5160|ONCOTREE:MDLC|ICD9:174.8|UMLS:C0334384|SCTID:444604002|EFO:1000382 owl:Class UBERON:0008775 biolink:NamedThing proximal epiphysis of fibula A proximal epiphysis that is part of a fibula. tmpak2llvmy_mondo_relaxed.owl fibular head|proximal end of fibula|head of fibula|caput fibulae|upper end of fibula owl:Class MONDO:0100416 biolink:NamedThing acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.) tmpak2llvmy_mondo_relaxed.owl AML, FLT3-TKD Point Mutation|AML, FLT3/TKD Point Mutation|AML, FLT3 tyrosine kinase domain point mutation owl:Class MONDO:0008066 biolink:NamedThing nasal hyperpigmentation, familial transverse tmpak2llvmy_mondo_relaxed.owl nasal hyperpigmentation, familial transverse OMIM:161530|UMLS:C1834369 owl:Class MONDO:0018967 biolink:NamedThing short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia tmpak2llvmy_mondo_relaxed.owl ICD10:E23.0|Orphanet:632 Editor note: classified as both isolated and syndromic in ORDO owl:Class MONDO:0060752 biolink:NamedThing neurodevelopmental disorder with spasticity and poor growth tmpak2llvmy_mondo_relaxed.owl NEDSG|neurodevelopmental disorder with spasticity and poor growth OMIM:618076 owl:Class ENVO:02000109 biolink:NamedThing dust from plant parts tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0034021 biolink:NamedThing spondylodysplastic Ehlers-Danlos syndrome tmpak2llvmy_mondo_relaxed.owl spondylodysplastic EDS Orphanet:536471 owl:Class MONDO:0020485 biolink:NamedThing King-Denborough syndrome King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. tmpak2llvmy_mondo_relaxed.owl Noonan like contracture myopathy hyperpyrexia|Koussef-Nichols syndrome|Kousseff Nichols syndrome|anesthetic-induced malignant hyperpyrexia in children|King Denborough syndrome ICD10:G71.2|MESH:C536883|Orphanet:99741|SCTID:764957003|GARD:0008433|MESH:C537504|GARD:0008561 https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome owl:Class MONDO:0032811 biolink:NamedThing night blindness, congenital stationary, type1i tmpak2llvmy_mondo_relaxed.owl CSNB1I|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I OMIM:618555 owl:Class MONDO:0001666 biolink:NamedThing retinal dystrophies primarily involving Bruch's membrane A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation. tmpak2llvmy_mondo_relaxed.owl Bruch's membrane inherited retinal dystrophy|inherited retinal dystrophy of Bruch's membrane|retinal dystrophies primarily involving Bruch membrane ICD9:362.77|DOID:13227 Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping owl:Class UBERON:0003248 biolink:NamedThing epithelium of footplate An epithelium that is part of a footplate. tmpak2llvmy_mondo_relaxed.owl footplate epithelium|foot plate epithelium owl:Class MONDO:0004223 biolink:NamedThing polyp of middle ear A benign polypoid growth in the middle ear. tmpak2llvmy_mondo_relaxed.owl middle Ear polyp|polyp of the middle ear|polyp - middle ear|middle ear polyp NCIT:C6933|DOID:7439|SCTID:73103007|UMLS:C0271466|ICD10:H74.4 owl:Class MONDO:0007354 biolink:NamedThing coloboma of optic nerve tmpak2llvmy_mondo_relaxed.owl optic nerve coloboma|coloboma of optic nerve|congenital coloboma of the optic nerve|morning glory Disc anomaly|optic nerve head pits, bilateral congenital|coloboma of optic nerve (disease) coloboma of optic nerve (disease) MESH:C535970|ICD10:H47.31|ICD10:Q14.2|GARD:0008502|OMIM:120430|ICD10:H47.319|HP:0000588|SCTID:17541006|DOID:11975|ICD9:377.23 owl:Class FOODON:03411297 biolink:NamedThing vertebrate animal A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described. tmpak2llvmy_mondo_relaxed.owl animal owl:Class CHEBI:84144 biolink:NamedThing L-phenylalanine derivative A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine by a heteroatom. tmpak2llvmy_mondo_relaxed.owl L-phenylalanine derivatives owl:Class CHEBI:83811 biolink:NamedThing proteinogenic amino acid derivative Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. tmpak2llvmy_mondo_relaxed.owl canonical amino-acid derivatives|proteinogenic amino acid derivatives|canonical amino acid derivatives|proteinogenic amino-acid derivative|proteinogenic amino-acid derivatives|canonical amino acid derivative|canonical amino-acid derivative owl:Class MONDO:0001607 biolink:NamedThing intrapelvic lymph node leukemic reticuloendotheliosis tmpak2llvmy_mondo_relaxed.owl leukemic reticuloendotheliosis involving intrapelvic lymph nodes|leukemic reticuloendotheliosis of intrapelvic lymph nodes UMLS:C0153831|ICD9:202.46|SCTID:93145002|DOID:12972 owl:Class GO:0050879 biolink:NamedThing multicellular organismal movement Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007372 biolink:NamedThing cornea plana 1, autosomal dominant tmpak2llvmy_mondo_relaxed.owl CNA1|cornea plana 1|cornea plana 1, autosomal dominant UMLS:C1852557|OMIM:121400|MESH:C565158 owl:Class MONDO:0011053 biolink:NamedThing intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. tmpak2llvmy_mondo_relaxed.owl Nicolaides-Baraitser syndrome|NCBRS|intellectual disability-sparse hair-brachydactyly syndrome|NBs|NICOLAIDES-Baraitser syndrome|sparse hair and mental retardation|sparse hair and intellectual disability Orphanet:3051|OMIM:601358|UMLS:C1303073|SCTID:401046009|MESH:C536116|GARD:0000270 owl:Class HGNC:2498 biolink:NamedThing CTDP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018132 biolink:NamedThing congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. tmpak2llvmy_mondo_relaxed.owl MDDGA|lissencephaly type 2 with muscular and ocular involvement 2022-03-01 GARD:0012588|DOID:0111229|Orphanet:352687 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: muscular dystrophy-dystroglycanopathy' MONDO_0018276 https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies owl:Class UBERON:0010183 biolink:NamedThing liver trabecula A trabecula that is part of a liver tmpak2llvmy_mondo_relaxed.owl hepatic trabecula owl:Class MONDO:0032771 biolink:NamedThing paragangliomas 7 tmpak2llvmy_mondo_relaxed.owl PARAGANGLIOMAS 7|PGL7 OMIM:618475 owl:Class HGNC:3534 biolink:NamedThing F13B tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:138948 biolink:NamedThing Enterovirus A tmpak2llvmy_mondo_relaxed.owl Enterovirus EV-A|Coxsackievirus A|Human enterovirus A|Human coxsackievirus A GC_ID:1 NCBITaxon:29269 ncbi_taxonomy owl:Class NCBITaxon:12059 biolink:NamedThing Enterovirus tmpak2llvmy_mondo_relaxed.owl Enteroviruses GC_ID:1 NCBITaxon:12128 ncbi_taxonomy owl:Class HGNC:18704 biolink:NamedThing NAA10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007554 biolink:NamedThing generalized epidermolysis bullosa simplex, non-Dowling-Meara type Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex, Kobner type|generalized EBS, non-Dowling-Meara type|EBS-K|EBS, generalized|epidermolysis bullosa simplex, Koebner type|epidermolysis bullosa simplex, generalized non-Dowling-Meara|epidermolysis bullosa simplex, generalized|epidermolysis bullosa simplex, Köbner type|epidermolysis bullosa simplex, generalized intermediate|EBS, generalized intermediate|generalized EBS ICD10:Q81.0|Orphanet:79399|OMIM:131900|GARD:0002147|ICD9:757.39|SCTID:90496008 owl:Class MONDO:0022953 biolink:NamedThing delta-1-pyrroline-5-carboxylate dehydrogenase deficiency A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. tmpak2llvmy_mondo_relaxed.owl 1-pyrroline-5-carboxylate dehydrogenase activity disease|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity GARD:0001798 https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency owl:Class MONDO:0002145 biolink:NamedThing sex differentiation disease A congenital disorder characterized by abnormalities in the development of the sexual characteristics. tmpak2llvmy_mondo_relaxed.owl sex differentiation disorder|intersex conditions|disorders of Sex development|disorder of sex differentiation|disorder of sex development|CARD|conditions affecting reproductive development|DSD|intersex|disorders of sex development (DSD)|differences of Sex development|sexual differentiation disorder|disorder of sexual differentiation MESH:D012734|DOID:1923|SCTID:39179006|UMLS:CN757797|Orphanet:90771|GTR:AN1172969|NCIT:C103186|MedDRA:10070597 owl:Class MONDO:0012219 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MESH:C563772|UMLS:C1836584|OMIM:609223 owl:Class GO:0003842 biolink:NamedThing 1-pyrroline-5-carboxylate dehydrogenase activity Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). tmpak2llvmy_mondo_relaxed.owl L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|pyrroline-5-carboxylate dehydrogenase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylic acid dehydrogenase activity|1-pyrroline dehydrogenase|1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity owl:Class GO:0016646 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015914 biolink:NamedThing primary orthostatic hypotension Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. tmpak2llvmy_mondo_relaxed.owl neurogenic orthostatic hypotension GARD:0012959|Orphanet:182058 https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension owl:Class MONDO:0005139 biolink:NamedThing morbid obesity An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. tmpak2llvmy_mondo_relaxed.owl severe obesity MESH:D009767|DOID:11981|EFO:0001074|NIFSTD:nlx_dys_20090303|UMLS:C0028756|SCTID:83911000119104|ICD9:278.01 owl:Class HGNC:4703 biolink:NamedThing GYPB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1632 biolink:NamedThing CD164 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013759 biolink:NamedThing internal cervical os Opening of uterine cervix into the body of the uterus. tmpak2llvmy_mondo_relaxed.owl internal orifice|internal os owl:Class UBERON:0013758 biolink:NamedThing cervical os One of two openings in the uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervical opening|uterine cervix opening owl:Class CL:0011021 biolink:NamedThing fibroblast of upper back skin A fibroblast that is part of upper back skin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020352 biolink:NamedThing multiple system atrophy, parkinsonian type Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). tmpak2llvmy_mondo_relaxed.owl MSA-p|MSA, parkinsonian type UMLS:CN207200|Orphanet:98933|ICD10:G23.2 owl:Class MONDO:0007803 biolink:NamedThing multiple system atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. tmpak2llvmy_mondo_relaxed.owl hypotension, orthostatic|multisystem atrophy|MSA|Shy-dragger syndrome (formerly)|susceptibility to multiple system atrophy 1|autonomic failure, Pure|Shy-Drager syndrome ICD10:G90.3|EFO:1001050|MESH:D019578|UMLS:C0037019|UMLS:C0393571|GARD:0007079|Orphanet:102|NCIT:C84909|DOID:4752|MedDRA:10064060|OMIM:146500 owl:Class MONDO:0033669 biolink:NamedThing Noonan syndrome 13 tmpak2llvmy_mondo_relaxed.owl NS13 OMIM:619087 owl:Class NCBITaxon:1824 biolink:NamedThing Nocardia asteroides tmpak2llvmy_mondo_relaxed.owl Asteroides asteroides|Discomyces asteroides|Proactinomyces asteroides|Actinomyces eppingeri|Streptotrix asteroides|Cladothrix asteroides|Oospora asteroides|Streptothrix eppingerii|Actinomyces asteroides|Actinomyces eppinger GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1817 biolink:NamedThing Nocardia tmpak2llvmy_mondo_relaxed.owl Micropolyspora PMID:7547284|PMID:7537058|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0001959 biolink:NamedThing white pulp of spleen the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies tmpak2llvmy_mondo_relaxed.owl white pulp|splenic white pulp|noduli lymphoidei splenici|pulpa alba|spleen white pulp owl:Class UBERON:1000023 biolink:NamedThing spleen pulp The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages. tmpak2llvmy_mondo_relaxed.owl Malpighian corpuscles|pulp of spleen|splenic pulp owl:Class MONDO:0012275 biolink:NamedThing fetal valproate syndrome Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). tmpak2llvmy_mondo_relaxed.owl valproate embryopathy, susceptibility to|valproic acid embryopathy|fetal valproate syndrome|fetal valproic acid syndrome|FVS|susceptibility to valproate embryopathy ICD9:759.89|OMIM:609442|ICD10:Q86.8|NCIT:C98930|MedDRA:10016524|Orphanet:1906|DOID:0060471|MESH:C536525|UMLS:C0236026|SCTID:17231009|GARD:0005447 https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome owl:Class MONDO:0004306 biolink:NamedThing childhood intracortical osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpak2llvmy_mondo_relaxed.owl childhood conventional osteosarcoma|childhood intracortical osteosarcoma NCIT:C6590|DOID:7612|UMLS:C1332974 owl:Class MONDO:0009866 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, cytosolic PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). tmpak2llvmy_mondo_relaxed.owl PCK1 deficiency, cytosolic|PEPCK 1 deficiency|PEP carboxykinase deficiency|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency|phosphopyruvate carboxylase deficiency|phosphoenolpyruvate carboxylase deficiency|phosphoenolpyruvate carboxykinase deficiency|PEPCK deficiency, cytosolic|PEPCK1 deficiency|PCKDC|phosphoenolpyruvate carboxykinase deficiency, cytosolic GARD:0004278|OMIM:261680|Orphanet:79316 owl:Class CL:1000893 biolink:NamedThing kidney venous blood vessel cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001031 cell owl:Class CL:1000854 biolink:NamedThing kidney blood vessel cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001014 cell owl:Class MONDO:0003244 biolink:NamedThing central nervous system mesenchymal non-meningothelial tumor A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl CNS soft tissue neoplasm|central nervous system mesenchymal, non-meningothelial tumor|soft tissue tumor of central nervous system|soft tissue neoplasm of CNS|mesenchymal non-meningothelial tumor of the central nervous system|non-meningothelial mesenchymal tumor|soft tissue neoplasm of central nervous system|soft tissue neoplasm of the CNS|CNS soft tissue tumor|mesenchymal, non-meningothelial tumor of CNS|mesenchymal, non-meningothelial tumor of the CNS|soft tissue tumor of the central nervous system|soft tissue tumor of the CNS|central nervous system mesenchymal, non-meningothelial neoplasm|mesenchymal, non-meningothelial tumor of central nervous system|soft tissue tumor of CNS|central nervous system soft tissue tumor|soft tissue neoplasm of the central nervous system|central nervous system soft tissue neoplasm UMLS:C1332893|DOID:502|NCIT:C5449 owl:Class MONDO:0030872 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 8 tmpak2llvmy_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis 8|FTDALS8 OMIM:619132 owl:Class MONDO:0033862 biolink:NamedThing primary autoimmune enteropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:522037 owl:Class MONDO:0000728 biolink:NamedThing ptosis The drooping of the upper eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid ptosis|ptosis|drooping eyelid|ptosis (disease)|blepharoptosis ptosis (disease) SCTID:11934000|ICD9:374.30|HP:0000508|DOID:0060260|ICD9:374.3|ICD10:H02.40|MESH:D001763|ICD10:H02.409|NCIT:C27298|ICD10:H02.4|UMLS:C0033377|UMLS:C0005745 owl:Class MONDO:0010482 biolink:NamedThing X-linked parkinsonism-spasticity syndrome X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. tmpak2llvmy_mondo_relaxed.owl PARKINSONISM with spasticity, X-linked|XPDS Orphanet:363654|UMLS:C3806722|OMIM:300911|ICD10:G20 owl:Class HGNC:10936 biolink:NamedThing SLC18A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008381 biolink:NamedThing dominant pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. tmpak2llvmy_mondo_relaxed.owl retinopathy, pericentral pigmentary, dominant OMIM:180210|DOID:0110420|ICD10:H35.5|MESH:C566713|UMLS:C1867261 owl:Class HGNC:9325 biolink:NamedThing PPT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016429 biolink:NamedThing Marburg acute multiple sclerosis Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. tmpak2llvmy_mondo_relaxed.owl acute multiple sclerosis, Marburg variant|acute multiple sclerosis, Marburg type SCTID:766246000|Orphanet:228157 owl:Class MONDO:0017529 biolink:NamedThing polysyndactyly, unilateral tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly type 4, unilateral ICD10:Q70.4|Orphanet:295159|UMLS:CN203260 owl:Class MONDO:0006104 biolink:NamedThing benign carotid body paraganglioma A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. tmpak2llvmy_mondo_relaxed.owl benign chemodectoma|carotid body paraganglioma, benign|benign carotid body paraganglioma|chemodectoma, benign UMLS:C2698359|EFO:1000108|NCIT:C79950 owl:Class NCBITaxon:11079 biolink:NamedThing Murray Valley encephalitis virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0025028 biolink:NamedThing vesicular stomatitis A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. tmpak2llvmy_mondo_relaxed.owl Stomatitides, vesicular|stomatitis, vesicular|vesicular Stomatitides SCTID:36921006|MESH:D054243|UMLS:C0266999 owl:Class MONDO:0018818 biolink:NamedThing facial diplegia with paresthesias tmpak2llvmy_mondo_relaxed.owl facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of GBS|facial diplegia with paresthesias variant of Guillain-BarrC) syndrome UMLS:CN776915|Orphanet:480701 owl:Class MONDO:0023152 biolink:NamedThing fibrocartilaginous embolism Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy. tmpak2llvmy_mondo_relaxed.owl embolism, fibrocartilaginous UMLS:C2931666|GARD:0009718|MESH:C537927 https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism owl:Class MONDO:0010973 biolink:NamedThing autosomal dominant nonsyndromic deafness 5 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in GSDME|deafness, autosomal dominant 5|deafness, autosomal dominant type 5|autosomal dominant nonsyndromic deafness type 5|DFNA5|autosomal dominant deafness 5|GSDME autosomal dominant nonsyndromic deafness OMIM:600994|MESH:C563410|DOID:0110575|UMLS:C1832932|ICD10:H90.3 owl:Class MONDO:0021400 biolink:NamedThing polyp of colon A polyp that involves the colon. tmpak2llvmy_mondo_relaxed.owl colonic polyp|colon polyp|polyp of the colon ICD10:K63.5|NCIT:C2954|SCTID:68496003|MESH:D003111 owl:Class MONDO:0013331 biolink:NamedThing factor 5 and Factor VIII, combined deficiency of, 2 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. tmpak2llvmy_mondo_relaxed.owl factor 5 and Factor VIII, combined deficiency of, 2|factor 5 and Factor VIII, combined deficiency of, type 2|F5F8D2|factor V and factor VIII, combined deficiency of, 2|combined deficiency of factor V and factor VIII caused by mutation in MCFD2|MCFD2 combined deficiency of factor V and factor VIII UMLS:C3150889|OMIM:613625 owl:Class MONDO:0033839 biolink:NamedThing osteoradionecrosis of the mandible tmpak2llvmy_mondo_relaxed.owl Orphanet:521127 owl:Class GO:0046394 biolink:NamedThing carboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpak2llvmy_mondo_relaxed.owl carboxylic acid anabolism|carboxylic acid formation|carboxylic acid biosynthesis|carboxylic acid synthesis owl:Class MONDO:0044717 biolink:NamedThing 4q25 proximal deletion syndrome tmpak2llvmy_mondo_relaxed.owl proximal del(4)(q25)|proximal monosomy 4q25 Orphanet:502437 owl:Class HGNC:23 biolink:NamedThing ABAT tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002294 biolink:NamedThing type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. tmpak2llvmy_mondo_relaxed.owl subcapsular thymic epithelial cell FMA:72209 tmeehan 2010-09-13T02:37:23Z cell owl:Class MONDO:0008645 biolink:NamedThing ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. tmpak2llvmy_mondo_relaxed.owl ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|ventricular extrasystoles perodactyly Robin sequence|Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ICD10:Q87.8|SCTID:719823007|GARD:0005472|MESH:C537497|OMIM:192445|Orphanet:3201 owl:Class MONDO:0005610 biolink:NamedThing Kashin-Beck disease Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. tmpak2llvmy_mondo_relaxed.owl EFO:0006511|ICD9:716.06|MESH:D057767|SCTID:270505009|UMLS:C2745963|ICD9:716.08|ICD9:716.00 owl:Class MONDO:0002165 biolink:NamedThing rectal neoplasm A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpak2llvmy_mondo_relaxed.owl rectum neoplasm (disease)|tumor of the rectum|tumor of rectum|rectal tumor|rectum tumor|rectum neoplasm|rectal neoplasm|neoplasm of rectum|neoplasm of the rectum MESH:D012004|DOID:1984|SCTID:126847008|UMLS:C0034885|NCIT:C3350 owl:Class ENVO:01001476 biolink:NamedThing body of liquid tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001477 biolink:NamedThing liquid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009919 biolink:NamedThing ureter smooth muscle The smooth muscle tissue surrounding the epithelium of the ureter tmpak2llvmy_mondo_relaxed.owl ureteral smooth muscle layer|ureteral smooth muscle owl:Class HGNC:8959 biolink:NamedThing PIGB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018992 biolink:NamedThing IgG4-related thyroid disease Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. tmpak2llvmy_mondo_relaxed.owl Riedel fibrosing thyroiditis|Riedel thyroiditis|Riedel disease|Riedel's fibrosing thyroiditis DOID:14351|SCTID:89024000|Orphanet:64744|ICD10:E06.5|UMLS:C1335787|MedDRA:10039142|NCIT:C35827 owl:Class GO:0035637 biolink:NamedThing multicellular organismal signaling The transfer of information occurring at the level of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl multicellular organismal signalling owl:Class MONDO:0100064 biolink:NamedThing tyrosine hydroxylase deficiency Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). tmpak2llvmy_mondo_relaxed.owl TH deficiency|tyrosine 3-monooxygenase deficiency|tyrosine hydroxylase deficiency|tyrosine Hydroxylase deficiency 2018-11-09 23:43:34+00:00 owl:Class CHEBI:78505 biolink:NamedThing venom A toxin used by animals and injected into their victims by a bite or sting. tmpak2llvmy_mondo_relaxed.owl venoms owl:Class MONDO:0023019 biolink:NamedThing dwarfism bluish sclerae tmpak2llvmy_mondo_relaxed.owl GARD:0001984 https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae owl:Class GO:1904000 biolink:NamedThing positive regulation of eating behavior Any process that activates or increases the frequency, rate or extent of eating behavior. tmpak2llvmy_mondo_relaxed.owl up regulation of eating behavior|up regulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour|up-regulation of eating behaviour|upregulation of eating behaviour|activation of eating behavior|upregulation of eating behavior|activation of eating behaviour owl:Class UBERON:0003825 biolink:NamedThing nerve of abdominal segment A nerve that is part of an abdominal segment of trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdominal segment nerve owl:Class MONDO:0007687 biolink:NamedThing graying of hair, precocious tmpak2llvmy_mondo_relaxed.owl graying of hair, precocious|White hair, premature OMIM:139100|MESH:C564209|UMLS:C1841809 owl:Class MONDO:0012331 biolink:NamedThing migraine with aura, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9|Mgr9 OMIM:609670 owl:Class CHEBI:17478 biolink:NamedThing aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. tmpak2llvmy_mondo_relaxed.owl Aldehyde|aldehidos|aldehydes|aldehido|aldehyde|an aldehyde|RC(=O)H|aldehydum|RCHO|Aldehyd owl:Class MONDO:0021276 biolink:NamedThing papilloma of buccal mucosa A papilloma that involves the buccal mucosa. tmpak2llvmy_mondo_relaxed.owl papilloma of the buccal mucosa|buccal mucosa papilloma UMLS:C1332641|NCIT:C5819|SCTID:448147005|ICD9:210.4 owl:Class MONDO:0012508 biolink:NamedThing agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. tmpak2llvmy_mondo_relaxed.owl agammaglobulinemia, microcephaly, and severe dermatitis OMIM:610483|ICD10:Q87.0|MESH:C538055|Orphanet:83617|UMLS:C1864848|GARD:0010011|SCTID:722281001 owl:Class HGNC:4226 biolink:NamedThing GDI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017869 biolink:NamedThing chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. tmpak2llvmy_mondo_relaxed.owl Orphanet:319195|ICD10:Q77.6 owl:Class HGNC:20692 biolink:NamedThing TPH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001498 biolink:NamedThing varicocele A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. tmpak2llvmy_mondo_relaxed.owl scrotum varicose disease|varicose disease of scrotum|scrotal varices DOID:12337|UMLS:C0042341|SCTID:46871008|ICD9:456.4|ICD10:I86.1|MESH:D014646 owl:Class GO:0006112 biolink:NamedThing energy reserve metabolic process The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. tmpak2llvmy_mondo_relaxed.owl energy reserve metabolism owl:Class MONDO:0016051 biolink:NamedThing cleft lip-retinopathy syndrome Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. tmpak2llvmy_mondo_relaxed.owl Ausems-Wittebol Post-Hennekam syndrome|cleft lip with progressive retinopathy|Ausems Wittebol-Post Hennekam syndrome|cleft lip-cone rod dystrophy syndrome|cleft lip-progressive retinopathy syndrome Orphanet:1995|GARD:0000435|UMLS:C2931789|MESH:C538272|ICD10:Q87.8 owl:Class MONDO:0001146 biolink:NamedThing fourth cranial nerve palsy A cranial nerve palsy that involves the trochlear nerve. tmpak2llvmy_mondo_relaxed.owl trochlear nerve cranial nerve palsy|cranial nerve palsy of trochlear nerve|fourth or trochlear nerve palsy|fourth nerve palsy DOID:10869|SCTID:20610004|ICD9:378.53 owl:Class GO:1903169 biolink:NamedThing regulation of calcium ion transmembrane transport Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl regulation of calcium ion membrane transport|regulation of transmembrane calcium transport owl:Class MONDO:0014175 biolink:NamedThing mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR|mitochondrial DNA depletion syndrome type 12|MTDPS12B|mitochondrial DNA depletion syndrome 12|MTDPS12 DOID:0080335|OMIM:615418|UMLS:C4321247|NCIT:C129977 owl:Class MONDO:0010287 biolink:NamedThing hereditary spastic paraplegia 16 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. tmpak2llvmy_mondo_relaxed.owl SPG16|X-linked spastic paraplegia 16|spastic paraplegia 16|spastic paraplegia 16, X-linked|hereditary spastic paraplegia type 16|X-linked spastic paraplegia type 16 DOID:0110769|ICD10:G11.4|GARD:0009585|MESH:C536643|UMLS:C1846046|OMIM:300266|Orphanet:100997 owl:Class MONDO:0017916 biolink:NamedThing pure or complex X-linked spastic paraplegia tmpak2llvmy_mondo_relaxed.owl Pure or complicated X-linked spastic paraplegia ICD10:G11.4|Orphanet:320350 owl:Class UBERON:0003610 biolink:NamedThing heart elastic tissue The type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers. tmpak2llvmy_mondo_relaxed.owl heart elastic connective tissue|elastic tissue of heart|cardiac elastic tissue|textus connectivus elasticus of heart|heart textus connectivus elasticus|elastic connective tissue of heart owl:Class MONDO:0007536 biolink:NamedThing congenital lobar emphysema Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. tmpak2llvmy_mondo_relaxed.owl infantile lobar hyperinflation|CLE|congenital lobar hyperinflation|emphysema, congenital lobar OMIM:130710|SCTID:66987001|MESH:C535735|MedDRA:10010456|Orphanet:1928|GARD:0002104|NCIT:C98895|UMLS:C0265797|ICD10:Q33.8 owl:Class GO:1903027 biolink:NamedThing regulation of opsonization Any process that modulates the frequency, rate or extent of opsonization. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025353 biolink:NamedThing developmental and epileptic encephalopathy, 90 tmpak2llvmy_mondo_relaxed.owl DEE90|developmental and epileptic encephalopathy 90 OMIM:301058 owl:Class MONDO:0009582 biolink:NamedThing Mietens syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. tmpak2llvmy_mondo_relaxed.owl intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability|Mietens-Weber syndrome|intellectual disability syndrome, Mietens-WEBER type|mental retardation syndrome, Mietens-WEBER type|mental retardation syndrome, Mietens Weber type|intellectual disability, Mietens-Weber type UMLS:C0265249|Orphanet:2557|SCTID:40291001|GARD:0003524|ICD9:759.89|OMIM:249600|ICD10:Q87.8|MESH:C537444 owl:Class NCBITaxon:318477 biolink:NamedThing Dracunculidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009104 biolink:NamedThing Donnai-Barrow syndrome Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. tmpak2llvmy_mondo_relaxed.owl DBS/FOAR syndrome|FOAR syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|Donnai-Barrow syndrome|faciooculoacousticorenal syndrome|Holmes-Schepens syndrome|syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|diaphragmatic hernia-exomphalos-hypertelorism syndrome SCTID:702418009|GARD:1899|UMLS:C1857277|ICD9:759.89|DOID:0090144|Orphanet:2143|GARD:0001899|ICD10:Q87.8|MESH:C536390|OMIM:222448 https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome owl:Class HP:0011123 biolink:NamedThing Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. tmpak2llvmy_mondo_relaxed.owl Skin inflammation|Inflammatory skin disease|Dermatitis|Abnormal tendency to infections of the skin|Inflammatory abnormality of the skin UMLS:C0011603|UMLS:C3875321|MP:0004947|SNOMEDCT_US:703938007|MSH:D003872 peter 2011-06-12T10:06:04Z HP:0002727|HP:0007423 human_phenotype owl:Class PO:0020003 biolink:NamedThing plant ovule A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006). tmpak2llvmy_mondo_relaxed.owl Zea ovule (narrow)|óvulo vegetal (Spanish, exact)|胚珠 (Japanese, exact)|Poaceae ovule (narrow) PO_GIT:464|PO_GIT:70 A seed (PO:0009010) develops from a plant ovule. In angiosperms, a plant ovule is part of a plant ovary (PO:0009072). In conifers, a plant ovule is part of an ovuliferous scale (add term). If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352). PO:0006457|PO:0006491 plant_anatomy owl:Class HGNC:10889 biolink:NamedThing SIX3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0003104 biolink:NamedThing positive regulation of glomerular filtration Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6831 biolink:NamedThing MANBA tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0000571 biolink:NamedThing miRNA_encoding A region that can be transcribed into a microRNA (miRNA). tmpak2llvmy_mondo_relaxed.owl miRNA encoding owl:Class SO:0000011 biolink:NamedThing non_protein_coding A gene which can be transcribed, but will not be translated into a protein. tmpak2llvmy_mondo_relaxed.owl non protein-coding owl:Class MONDO:0001414 biolink:NamedThing osteopoikilosis A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. tmpak2llvmy_mondo_relaxed.owl osteopoikilosis|osteopathia condensans disseminata|osteopoikilosis (disease)|spotted bones osteopoikilosis (disease) SCTID:9147009|DOID:11991|NCIT:C84985|MESH:D010023|HP:0010739|ICD9:756.53|GARD:0004158|ICD10:Q78.8 owl:Class MONDO:0021437 biolink:NamedThing lipoma of stomach A lipoma that involves the stomach. tmpak2llvmy_mondo_relaxed.owl gastric lipoma|stomach lipoma|lipoma of the stomach UMLS:C1333777|SCTID:695751021000132104|NCIT:C5258 owl:Class MONDO:0009616 biolink:NamedThing microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl microcephalic primordial dwarfism and cataracts|microcephalic primordial dwarfism Toriello type|microcephalic primordial dwarfism, Toriello type SCTID:715482004|ICD10:Q87.1|MESH:C537321|Orphanet:2643|OMIM:251190|GARD:0003602|UMLS:C1855089 https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type owl:Class MONDO:0000212 biolink:NamedThing hypercalcemia, infantile A hypercalcemia disease that occurs between 28 days to one year of life.. tmpak2llvmy_mondo_relaxed.owl infantile hypercalcemia disease|infantile onset hypercalcemia disease|infantile hypercalcemia|hypercalcemia disease of infancy SCTID:276645004|OMIMPS:143880|MESH:C562999 owl:Class MONDO:0015314 biolink:NamedThing primary laryngeal lymphangioma Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. tmpak2llvmy_mondo_relaxed.owl Orphanet:137926|ICD10:D18.1|SCTID:763617006 owl:Class MONDO:0012660 biolink:NamedThing susceptibility to visceral leishmaniasis, 2 tmpak2llvmy_mondo_relaxed.owl leishmaniasis, visceral, susceptibility to, 2|kala-AZAR, susceptibility to, 2|KAZA2 OMIM:611381 owl:Class CL:0002465 biolink:NamedThing CD11b-positive dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-11-23T01:50:05Z cell owl:Class HGNC:966 biolink:NamedThing BBS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014551 biolink:NamedThing short stature with nonspecific skeletal abnormalities tmpak2llvmy_mondo_relaxed.owl SNSK|short stature with nonspecific skeletal abnormalities UMLS:C4225399|OMIM:616255 owl:Class MONDO:0003684 biolink:NamedThing clear cell chondrosarcoma A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. tmpak2llvmy_mondo_relaxed.owl clear cell chondrosarcoma (morphologic abnormality)|clear cell chondrosarcoma NCIT:C6475|ICDO:9242/3|UMLS:C1266167|DOID:5867 owl:Class MONDO:0018226 biolink:NamedThing infantile epileptic-dyskinetic encephalopathy Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. tmpak2llvmy_mondo_relaxed.owl Orphanet:364063|ICD10:G40.4 owl:Class MONDO:0017047 biolink:NamedThing infantile axonal neuropathy tmpak2llvmy_mondo_relaxed.owl ICD10:G60.8|GARD:0002996|Orphanet:2679 https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy owl:Class MONDO:0015030 biolink:NamedThing sclerosing perineurioma tmpak2llvmy_mondo_relaxed.owl Orphanet:100001|UMLS:CN197320 owl:Class MONDO:0019012 biolink:NamedThing Carpenter syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. tmpak2llvmy_mondo_relaxed.owl ACPS2|acrocephalosyndactyly, type II|acrocephalopolysyndactyly type 2|acrocephalopolysyndactyly type II|Carpenter 's syndrome|type II Acrocephalopolysyndactyly|Carpenter syndrome Orphanet:65759|UMLS:C1275078|ICD10:Q87.0|DOID:0060234|OMIMPS:201000|SCTID:403767009|UMLS:CN229565|GARD:0006003|NCIT:C98873 owl:Class OBO:CHR_9606-chr16p13 biolink:NamedThing chr16p13 (Human) tmpak2llvmy_mondo_relaxed.owl 16700000 0 hg38 owl:Class MONDO:0008195 biolink:NamedThing paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). tmpak2llvmy_mondo_relaxed.owl Von Eulenburg paramyotonia congenita|paralysis periodica Paramyotonica|paramyotonia congenita|paramyotonia congenita without cold paralysis|paramyotonia congenita of VON Eulenburg|paramyotonia congenita of Von Eulenburg|myotonia congenita intermittens|Eulenburg disease|PMC GARD:0007325|DOID:0111538|ICD10:G71.1|Orphanet:684|ICD9:359.29|SCTID:41574007|OMIM:168300|NCIT:C122790 owl:Class MONDO:0003350 biolink:NamedThing granular cell leiomyosarcoma An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. tmpak2llvmy_mondo_relaxed.owl granular cell leiomyosarcoma DOID:5258|NCIT:C27494|UMLS:C1333871 owl:Class MONDO:0006337 biolink:NamedThing ovarian endometriosis A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. tmpak2llvmy_mondo_relaxed.owl ovary endometriosis (disease)|endometriosis of ovary|endometriosis (disease) of ovary|ovarian endometriosis ICD10:N80.1|SCTID:266589005|DOID:11432|UMLS:C0156344|EFO:1000418|ICD9:617.1|NCIT:C27628 owl:Class MONDO:0024883 biolink:NamedThing metastatic neoplasm A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. tmpak2llvmy_mondo_relaxed.owl metastatic tumor|metastatic disease|metastatic neoplasm NCIT:C3261|ICDO:8000/6 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class GO:1902338 biolink:NamedThing negative regulation of apoptotic process involved in morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpak2llvmy_mondo_relaxed.owl down-regulation of apoptotic process involved in morphogenesis|down regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|negative regulation of apoptosis involved in morphogenesis|inhibition of morphogenetic apoptosis|down regulation of apoptotic process involved in morphogenesis|down-regulation of apoptosis involved in morphogenesis|downregulation of morphogenetic apoptosis|downregulation of apoptosis involved in development|inhibition of apoptosis involved in development|down-regulation of apoptosis involved in development|inhibition of apoptosis involved in morphogenesis|negative regulation of morphogenetic apoptosis|down regulation of apoptosis involved in development|down regulation of morphogenetic apoptosis|inhibition of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|down-regulation of morphogenetic apoptosis|downregulation of apoptosis involved in morphogenesis owl:Class CL:0000638 biolink:NamedThing acidophil cell of pars distalis of adenohypophysis An acidophilic chromophil cell that of the anterior pituitary gland. tmpak2llvmy_mondo_relaxed.owl pituitary alpha cell|acidophil of pars distalis of adenohypophysis|acidophil of pars anterior of adenohypophysis|acidophil cell of pars anterior of adenohypophysis FMA:83093 cell owl:Class HGNC:24160 biolink:NamedThing BEAN1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21316 biolink:NamedThing ANKRD11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006856 biolink:NamedThing mesothelial neoplasm A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 tmpak2llvmy_mondo_relaxed.owl mesothelial neoplasm|mesothelial tumor NCIT:C3786|MESH:D018301|EFO:1001044|UMLS:C3714739 owl:Class CL:0002187 biolink:NamedThing basal cell of epidermis A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. tmpak2llvmy_mondo_relaxed.owl FMA:70571 tmeehan 2010-08-26T03:12:49Z CL:1000439 cell owl:Class MONDO:0023571 biolink:NamedThing Kozlowski Rafinski Klicharska syndrome tmpak2llvmy_mondo_relaxed.owl metaphyseal and epiphyseal dysplasia with unusual facies and cataract UMLS:C2931513|MESH:C537509|GARD:0003140 https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome owl:Class MONDO:0021028 biolink:NamedThing genetic nail anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic nail anomaly Orphanet:183454 owl:Class HGNC:18625 biolink:NamedThing FKBP14 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1463974 biolink:NamedThing Cryptostroma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:11708 biolink:NamedThing TDO2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0050910 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory transduction of sound|perception of sound, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of sound|sensory detection of mechanical stimulus during perception of sound|detection of sound|hearing, sensory transduction of sound|perception of sound, detection of mechanical stimulus|perception of sound, sensory transduction of mechanical stimulus owl:Class MONDO:0005264 biolink:NamedThing transient ischemic attack A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. tmpak2llvmy_mondo_relaxed.owl transient cerebral ischaemia|transient cerebral ischemia|ischemic attack, transient|transient ischemic attacks|transient ischemic attack|TIA|attack, transient ischemic|transient cerebral ischemia (disorder) [ambiguous]|TIA - transient ischaemic attack|transient ischemic attack (disease) transient ischemic attack (disease) ICD9:435|NCIT:C50781|ICD9:435.9|MESH:D002546|ICD10:G45.9|ICD9:435.8|HP:0002326|SCTID:266257000|EFO:0003764|DOID:224 owl:Class CL:1001599 biolink:NamedThing pancreas exocrine glandular cell Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts. tmpak2llvmy_mondo_relaxed.owl exocrine pancreas glandular cell|pancreas exocrine glandular cells BTO:0000028|CALOHA:TS-1242 owl:Class GO:0008480 biolink:NamedThing sarcosine dehydrogenase activity Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein. tmpak2llvmy_mondo_relaxed.owl sarcosine N-demethylase activity|monomethylglycine dehydrogenase activity|sarcosine:acceptor oxidoreductase (demethylating)|sarcosine:(acceptor) oxidoreductase (demethylating) owl:Class GO:0048018 biolink:NamedThing receptor ligand activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). tmpak2llvmy_mondo_relaxed.owl vitamin D receptor activator activity|signaling molecule|receptor agonist activity|signaling receptor ligand activity owl:Class MONDO:0017282 biolink:NamedThing alveolar echinococcosis Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. tmpak2llvmy_mondo_relaxed.owl Echinococcus multilocularis infection|echinococcosis|Echinococcus multilocularis disease or disorder|small fox tapeworm|echinococcus multilocularis infection|multilocular hydatid|Echinococcus multilocularis caused disease or disorder|alveolococcosis|Echinococcus multilocularis infectious disease ICD10:B67.6|UMLS:C0948954|GARD:0000207|DOID:12148|SCTID:21009004|ICD10:B67.5|MedDRA:10053042|ICD9:122.7|Orphanet:284|UMLS:C0152069|MESH:C536591|ICD10:B67.7 owl:Class MONDO:0022871 biolink:NamedThing corpus callosum agenesis of blepharophimosis robin type tmpak2llvmy_mondo_relaxed.owl GARD:0001538 https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type owl:Class CHEBI:22691 biolink:NamedThing barbiturate anion tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033556 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 tmpak2llvmy_mondo_relaxed.owl Muscular Dystrophy, Congenital, Dpm3-Related|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15|MDDGB15 OMIM:618992 owl:Class NCBITaxon:92088 biolink:NamedThing Trombiculoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:203490 biolink:NamedThing Fusobacteriia tmpak2llvmy_mondo_relaxed.owl Fusobacteria GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006061 biolink:NamedThing cervical artery dissection A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery. tmpak2llvmy_mondo_relaxed.owl EFO:1000059 owl:Class UBERON:0003374 biolink:NamedThing chorionic ectoderm A extraembryonic structure that develops_from a ectoderm and is part of a chorion. tmpak2llvmy_mondo_relaxed.owl chorion epithelium|chorion ectoderm|chorionic epithelium owl:Class MONDO:0015883 biolink:NamedThing hidrotic ectodermal dysplasia, Halal type Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Halal-Setton-Wang syndrome|Halal Setton Wang syndrome|ectodermal dysplasia with skin anomalies and intellectual disability|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|hidrotic ectodermal dysplasia Halal type MESH:C535621|Orphanet:1809|UMLS:C2930953|GARD:0000280|SCTID:721147000|ICD10:Q82.8 owl:Class MONDO:0007355 biolink:NamedThing uveal coloboma-cleft lip and palate-intellectual disability Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|coloboma-microphthalmos syndrome|COB1|coloboma, cleft lip/palate and intellectual disability syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|coloboma, cleft lip/palate and mental retardation syndrome|uveal coloboma-cleft lip/palate-mental retardation syndrome|uveal coloboma-cleft lip/palate-intellectual disability syndrome|uveal coloboma-cleft lip and palate-intellectual disability Orphanet:1473|ICD10:Q12.2|OMIM:120433|GARD:0001440|DOID:0111249|MESH:C535971|UMLS:C0795902 owl:Class MONDO:0000237 biolink:NamedThing erysipeloid An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. tmpak2llvmy_mondo_relaxed.owl DOID:0050061|ICD10:A26|SCTID:400105005|UMLS:C1276801|MESH:D004887 Editor note: consider merging with parent owl:Class ENVO:01001052 biolink:NamedThing aerosol environment An environmental system which has its properties and dynamics determined by an aerosol. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007249 biolink:NamedThing camptobrachydactyly Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. tmpak2llvmy_mondo_relaxed.owl camptobrachydactyly|short foot/brachydactyly of toes, camptodactyly, brachydactyly OMIM:114150|SCTID:733045005|Orphanet:1319|MESH:C537967|ICD10:Q74.8|GARD:0001062 https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly owl:Class GO:0045453 biolink:NamedThing bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016291 biolink:NamedThing craniosynostosis, Herrmann-Opitz type Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl Herrmann Opitz craniosynostosis UMLS:CN226893|Orphanet:2145|GARD:0002671|ICD10:Q75.0 owl:Class MONDO:0024574 biolink:NamedThing von Willebrand disease (hereditary or acquired) Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. tmpak2llvmy_mondo_relaxed.owl von Willebrand's disease|von Willebrand disorder|VWD|von Willebrand disease MESH:D014842|NCIT:C68677|SCTID:128105004|ICD10:D68.0|ICD9:286.4 owl:Class GO:0070003 biolink:NamedThing threonine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013634 biolink:NamedThing neuropathy, hereditary sensory, type 2C Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. tmpak2llvmy_mondo_relaxed.owl hereditary sensory neuropathy type 2C|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type IIC|HSN2C|neuropathy, hereditary sensory, type IIC|KIF1A hereditary sensory and autonomic neuropathy type 2 UMLS:C3280168|OMIM:614213|DOID:0070147 owl:Class MONDO:0019941 biolink:NamedThing hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. tmpak2llvmy_mondo_relaxed.owl Giaccai type acroosteolysis|hereditary sensory and autonomic neuropathy type II|hereditary sensory radicular neuropathy, recessive form|HSAN2|neurogenic acroosteolysis|hereditary sensory neuropathy type 2|autosomal recessive sensory radicular neuropathy PMID:21089229|GARD:0003976|GARD:3976|Orphanet:970|DOID:0070161|SCTID:398148000|ICD10:G60.8 owl:Class MONDO:0004147 biolink:NamedThing noninvasive malignant thymoma A morphologically malignant thymoma that is entirely confined within the capsule. tmpak2llvmy_mondo_relaxed.owl malignant thymoma, noninvasive|thymoma malignant noninvasive DOID:7214|UMLS:C0278847|NCIT:C9080 owl:Class NCBITaxon:422676 biolink:NamedThing Aconoidasida tmpak2llvmy_mondo_relaxed.owl Hematozoa Vivier 1982 GC_ID:1 ncbi_taxonomy owl:Class CHEBI:38877 biolink:NamedThing intravenous anaesthetic tmpak2llvmy_mondo_relaxed.owl i.v.-Anaesthetikum|intravenous anesthetics|i.v.-Anaesthetika owl:Class CHEBI:38869 biolink:NamedThing general anaesthetic Substance that produces loss of consciousness. tmpak2llvmy_mondo_relaxed.owl general anaesthetic|Allgemeinanaesthetika|Allgemeinanaesthetikum|general anaesthetics|general anesthetics owl:Class NCBITaxon:235 biolink:NamedThing Brucella abortus tmpak2llvmy_mondo_relaxed.owl Brucella melitensis bv. Abortus|Bacterium abortus|Brucella melitensis biovar Abortus GC_ID:11 ncbi_taxonomy owl:Class MONDO:0015774 biolink:NamedThing thoraco-abdominal enteric duplication Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. tmpak2llvmy_mondo_relaxed.owl thoraco abdominal enteric duplication Orphanet:1759|GARD:0005181|ICD10:Q43.4|SCTID:733628001 https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication owl:Class MONDO:0012316 biolink:NamedThing Majeed syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. tmpak2llvmy_mondo_relaxed.owl chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|CDA and CRMO|chronic recurrent multifocal osteomyelitis, congenital|MJDS|MAJEED syndrome|dyserythropoietic anemia, and neutrophilic dermatosis|chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|Majeed syndrome MESH:C537839|OMIM:609628|ICD9:759.89|NCIT:C119058|MedDRA:10072223|UMLS:C1864997|SCTID:703540008|Orphanet:77297|GARD:0010088 https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome owl:Class MONDO:0011130 biolink:NamedThing sebaceous gland hyperplasia, familial presenile tmpak2llvmy_mondo_relaxed.owl sebaceous gland hyperplasia, familial presenile GARD:0010031|MESH:C537530|OMIM:601700|UMLS:C1866428 https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile owl:Class FOODON:03510021 biolink:NamedThing animal as food consumer tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007496 biolink:NamedThing dystonia 12 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. tmpak2llvmy_mondo_relaxed.owl rapid-onset dystonia-parkinsonism|ATP1A3 dystonic disorder|dystonic disorder caused by mutation in ATP1A3|dystonia-Parkinsonism, rapid-onset|dystonia type 12|dystonia 12|DYT-ATP1A3|RDP|DYT12 SCTID:702323008|OMIM:128235|ICD10:G24.1|GARD:0009628|DOID:0090056|Orphanet:71517|MESH:C538001|UMLS:C1868681 owl:Class HGNC:4289 biolink:NamedThing GK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025270 biolink:NamedThing toxoplasmosis, non-human animal Acquired infection of non-human animals by organisms of the genus toxoplasma. tmpak2llvmy_mondo_relaxed.owl Toxoplasmoses, animal|animal Toxoplasmoses|animal toxoplasmosis UMLS:C0040559|MESH:D014124 owl:Class MONDO:0012479 biolink:NamedThing congenital malabsorptive diarrhea 4 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported. tmpak2llvmy_mondo_relaxed.owl congenital malabsorptive diarrhea type 4|DIAR4|congenital diarrhea caused by mutation in NEUROG3|diarrhea 4, malabsorptive, congenital|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|enteric anendocrinosis|NEUROG3 congenital diarrhea Orphanet:83620|UMLS:C1835888|OMIM:610370|MESH:C563673|ICD10:P78.3|DOID:0060779|SCTID:722392003 owl:Class MONDO:0001773 biolink:NamedThing post-vaccinal encephalitis An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) tmpak2llvmy_mondo_relaxed.owl postvaccinal encephalomyelitis|encephalitis following immunization procedures UMLS:C0751101|SCTID:31367003|ICD9:323.51|DOID:13664|ICD10:G04.02 owl:Class MONDO:0010065 biolink:NamedThing spinocerebellar degeneration with slow eye movements tmpak2llvmy_mondo_relaxed.owl SDSEM|spinocerebellar degeneration with slow eye movements OMIM:271322 Editor note: check this owl:Class MONDO:0005182 biolink:NamedThing serous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well. tmpak2llvmy_mondo_relaxed.owl EFO:0002510 owl:Class GO:1905904 biolink:NamedThing positive regulation of mesoderm formation Any process that activates or increases the frequency, rate or extent of mesoderm formation. tmpak2llvmy_mondo_relaxed.owl activation of mesoderm formation|upregulation of mesoderm formation|up-regulation of mesoderm formation|up regulation of mesoderm formation owl:Class HP:0004326 biolink:NamedThing Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. tmpak2llvmy_mondo_relaxed.owl Wasting syndrome SNOMEDCT_US:238108007|UMLS:C0006625|MSH:D002100|SNOMEDCT_US:285384003 peter 2008-02-27T03:23:00Z human_phenotype owl:Class MONDO:0003461 biolink:NamedThing fallopian tube serous adenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. tmpak2llvmy_mondo_relaxed.owl fallopian tube adenofibroma|fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube DOID:5478|NCIT:C40113|UMLS:C1517109 owl:Class MONDO:0013293 biolink:NamedThing isolated microphthalmia 6 Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, posterior nonsyndromic|PRSS56 isolated microphthalmia|isolated microphthalmia type 6|microphthalmia, isolated 6|MCOP6|posterior nonsyndromic microphthalmia|microphthalmia, isolated type 6|isolated microphthalmia caused by mutation in PRSS56 DOID:0060835|UMLS:C3150757|ICD10:Q11.0|OMIM:613517 owl:Class GO:0002349 biolink:NamedThing histamine production involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl histamine production involved in acute inflammatory response owl:Class GO:0002532 biolink:NamedThing production of molecular mediator involved in inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl production of cellular mediator of acute inflammation|production of molecular mediator involved in acute inflammatory response owl:Class MONDO:0043120 biolink:NamedThing male pseudohermaphroditism due to defective lh molecule tmpak2llvmy_mondo_relaxed.owl GARD:0003356|MESH:C535692|HGNC:6584|UMLS:C1835303 owl:Class UBERON:0005290 biolink:NamedThing myelencephalon The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. tmpak2llvmy_mondo_relaxed.owl myelencephalon (medulla oblongata) owl:Class MONDO:0004220 biolink:NamedThing endometrial endometrioid adenocarcinoma with spindled epithelial cells A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. tmpak2llvmy_mondo_relaxed.owl sarcomatoid uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma with spindled epithelial cells UMLS:C1336913|NCIT:C27850|DOID:7436 owl:Class HGNC:7684 biolink:NamedThing NDUFA10 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7108 biolink:NamedThing MKKS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007830 biolink:NamedThing insensitivity to pain with hyperplastic Myelinopathy tmpak2llvmy_mondo_relaxed.owl insensitivity to pain with hyperplastic Myelinopathy OMIM:147530 owl:Class MONDO:0032795 biolink:NamedThing intellectual developmental disorder 59 tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER 59|MRD59|intellectual developmental disorder 59|Mental Retardation, Autosomal Dominant 59 OMIM:618522 owl:Class MONDO:0032485 biolink:NamedThing intellectual developmental disorder 61 tmpak2llvmy_mondo_relaxed.owl MRD61|INTELLECTUAL DEVELOPMENTAL DISORDER 61|Mental Retardation, Autosomal Dominant 61 OMIM:618009 owl:Class MONDO:0004440 biolink:NamedThing pineal region meningioma A meningioma that affects the pineal gland. tmpak2llvmy_mondo_relaxed.owl meningioma of the pineal gland|pineal area meningioma|pineal gland meningioma|meningioma of pineal area|meningioma of the pineal region|meningioma of pineal region|pineal body meningioma (disease)|meningioma of the pineal area|meningioma of pineal gland|meningioma (disease) of pineal body|pineal meningioma DOID:8031|UMLS:C1335418|NCIT:C6756 owl:Class HGNC:3767 biolink:NamedThing FLT4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012328 biolink:NamedThing trichilemmal cyst tmpak2llvmy_mondo_relaxed.owl Pilar cyst|trichilemmal cyst 1|Tricholemmal cyst|TRICY1 UMLS:C1864801|OMIM:609649|SCTID:254677004|UMLS:C2266788 owl:Class CHEBI:24318 biolink:NamedThing glutamine family amino acid An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class. tmpak2llvmy_mondo_relaxed.owl glutamine family amino acids owl:Class MONDO:0004881 biolink:NamedThing myositis fibrosa A form of myositis that is characterized by the formation of connective tissue within the muscle. tmpak2llvmy_mondo_relaxed.owl interstitial myositis ICD9:728.81|SCTID:55925001|ICD10:M60.1|DOID:9788|NCIT:C26985|UMLS:C0158362 owl:Class MONDO:0017799 biolink:NamedThing Meigs syndrome A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. tmpak2llvmy_mondo_relaxed.owl Demons-Meigs syndrome|Meigs' syndrome SCTID:63402005|Orphanet:314451|NCIT:C3223|MESH:D008539|MedDRA:10027139|UMLS:C0025184|ICD9:629.89|ICD10:D27 owl:Class UBERON:0005287 biolink:NamedThing tela choroidea of fourth ventricle Tela chorioidea that lines the fourth ventricle[ZFA]. The tela chorioidea of the fourth ventricle is the name applied to the triangular fold of pia mater which is carried upward between the cerebellum and the medulla oblongata. It consists of two layers, which are continuous with each other in front, and are more or less adherent throughout: The posterior layer covers the antero-inferior surface of the cerebellum. The anterior layer is applied to the structures which form the lower part of the roof of the ventricle, and is continuous inferiorly with the pia mater on the inferior peduncles and closed part of the medulla[WP]. tmpak2llvmy_mondo_relaxed.owl tela choroidea of fourth ventricle|tela chorioidea fourth ventricle|tela choroidea|tela choroidea fourth ventricle|choroid membrane|tela choroidea ventriculi quarti|choroid membrane of fourth ventricle owl:Class MONDO:0006365 biolink:NamedThing Peutz-Jeghers polyp A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 tmpak2llvmy_mondo_relaxed.owl Peutz-Jeghers polyp|Peutz Jeghers polyp NCIT:C4733|EFO:1000470 owl:Class MONDO:0019412 biolink:NamedThing dysspondyloenchondromatosis Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. tmpak2llvmy_mondo_relaxed.owl SCTID:722434004|UMLS:C4302548|ICD10:Q78.4|Orphanet:85198 owl:Class MONDO:0007279 biolink:NamedThing cataract 7 A cataract that has material basis in variation in the region 17q24. tmpak2llvmy_mondo_relaxed.owl CCA1|CTRCT7|cataract 7, cerulean type|congenital cerulean type cataract 1|cataract 7|cataract type 7|cerulean type cataract 7|cataract, congenital, cerulean type, 1 OMIM:115660|DOID:0110260|ICD10:Q12.0 owl:Class UBERON:0016534 biolink:NamedThing white matter of temporal lobe A white matter of cerebral lobe that is part of a temporal lobe. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903337 biolink:NamedThing positive regulation of vacuolar transport Any process that activates or increases the frequency, rate or extent of vacuolar transport. tmpak2llvmy_mondo_relaxed.owl upregulation of vacuolar transport|up regulation of vacuolar transport|activation of vacuolar transport|up-regulation of vacuolar transport owl:Class MONDO:0009912 biolink:NamedThing prolactin deficiency with obesity and enlarged testes tmpak2llvmy_mondo_relaxed.owl PRL deficiency with obesity and enlarged testes|prolactin deficiency with obesity and enlarged testes OMIM:264120|MESH:C564870|UMLS:C1849698 owl:Class MONDO:0044727 biolink:NamedThing pancreatic carcinoma with mixed differentiation A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss. tmpak2llvmy_mondo_relaxed.owl mixed exocrine-endocrine carcinoma of the pancreas|pancreatic MiNEN|MiNEN of pancreas|mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|pancreatic carcinoma with mixed differentiation UMLS:C1709050|NCIT:C45843|Orphanet:506112 owl:Class UBERON:0004058 biolink:NamedThing biliary ductule One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] tmpak2llvmy_mondo_relaxed.owl ductuli biliferi|bile ductule|biliary ductule|terminal cholangiole|cholangiole|bile capillary owl:Class HGNC:678 biolink:NamedThing ARHGDIA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015417 biolink:NamedThing Tessier number 6 facial cleft tmpak2llvmy_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141265 owl:Class HP:0010917 biolink:NamedThing Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023653 peter 2010-12-08T09:13:53Z human_phenotype owl:Class MONDO:0002223 biolink:NamedThing ovarian malignant mesothelioma A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. tmpak2llvmy_mondo_relaxed.owl malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)|ovarian malignant mesothelioma UMLS:C1518721|NCIT:C40444|DOID:2143 owl:Class GO:0001932 biolink:NamedThing regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. tmpak2llvmy_mondo_relaxed.owl regulation of protein amino acid phosphorylation owl:Class HP:0040307 biolink:NamedThing Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpak2llvmy_mondo_relaxed.owl human_phenotype owl:Class HP:0012874 biolink:NamedThing Abnormal male reproductive system physiology An abnormal functionality of the male genital system. tmpak2llvmy_mondo_relaxed.owl Abnormal male genital system physiology UMLS:C4020716 hecht 2014-06-09T11:20:46Z human_phenotype owl:Class MONDO:8000015 biolink:NamedThing 46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. tmpak2llvmy_mondo_relaxed.owl testicular regression, embryonic|XY gonadal agenesis syndrome|testicular regression syndrome|TRS|SRXY11|anorchia, familial MESH:C537770|OMIM:273250 owl:Class GO:0033500 biolink:NamedThing carbohydrate homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013772 biolink:NamedThing congenital cataract-hearing loss-severe developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl congenital cataracts, hearing loss, and neurodegeneration|CCHLND|lethal neurodegenerative disorder due to copper transport defect|congenital cataract-deafness-severe developmental delay syndrome OMIM:614482|Orphanet:300313|UMLS:C3280965 owl:Class GO:0048332 biolink:NamedThing mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021325 biolink:NamedThing malignant neoplasm of thoracic esophagus A cancer that involves the thoracic part of esophagus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of thoracic part of esophagus|thoracic part of esophagus cancer|malignant neoplasm of the thoracic esophagus|malignant thoracic part of esophagus neoplasm|cancer of thoracic part of esophagus NCIT:C3532|UMLS:C0153411|ICD9:150.1|SCTID:187723009 owl:Class MONDO:0022070 biolink:NamedThing Cantu sanchez-corona hernandez syndrome Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies tmpak2llvmy_mondo_relaxed.owl GARD:0001083 https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome owl:Class MONDO:0004639 biolink:NamedThing perinatal necrotizing enterocolitis A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. tmpak2llvmy_mondo_relaxed.owl necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn|perinatal necrotising enterocolitis|enterocolitis necrotizing|enterocolitis, necrotizing|pseudomembranous enterocolitis in newborn SCTID:397729009|DOID:8677|GARD:0009767 owl:Class MONDO:0005313 biolink:NamedThing necrotizing enterocolitis Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. tmpak2llvmy_mondo_relaxed.owl necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn|NEC MESH:D020345|UMLS:C4082937|UMLS:C0520459|Orphanet:391673|SCTID:2707005|ICD9:777.5|NCIT:C84915|EFO:0003928 owl:Class MONDO:0060564 biolink:NamedThing HELIX syndrome tmpak2llvmy_mondo_relaxed.owl hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome|HELIX|HELIX syndrome|hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia Orphanet:528105|OMIM:617671|UMLS:C4522164 owl:Class UBERON:0009712 biolink:NamedThing endocardium of right ventricle Any endocardium that is part of the right ventricle of the heart. tmpak2llvmy_mondo_relaxed.owl endocardial lining of right ventricle|right ventricle endocardium|right ventricle endocardial tissue|right ventricular endocardium owl:Class UBERON:0009191 biolink:NamedThing sphenoid bone pre-cartilage condensation A sphenoid endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23063 biolink:NamedThing NUDT15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100274 biolink:NamedThing alkylglycerone-phosphate synthase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene. tmpak2llvmy_mondo_relaxed.owl AGPS deficiency|alkylglycerone-phosphate synthase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0006918 biolink:NamedThing posterior uveitis Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. tmpak2llvmy_mondo_relaxed.owl uveitis, posterior|chorioretinal region inflammation|inflammation of chorioretinal region MedDRA:10036370|EFO:1001119|SCTID:43363007|DOID:12574|GARD:0004457|MESH:D015866 Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD owl:Class MONDO:0004178 biolink:NamedThing testicular yolk sac tumor, endodermal sinus pattern A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl endodermal sinus pattern testicular yolk sac tumor|testicular yolk sac tumor, endodermal sinus pattern NCIT:C39927|UMLS:C1515303|DOID:7302 owl:Class MONDO:0003600 biolink:NamedThing cutaneous liposarcoma A malignant adipose tissue neoplasm of the skin. tmpak2llvmy_mondo_relaxed.owl zone of skin liposarcoma|liposarcoma of the skin|liposarcoma of skin|liposarcoma of zone of skin|cutaneous liposarcoma|skin liposarcoma NCIT:C5615|DOID:5712|UMLS:C1333175 owl:Class NCIT:C49163 biolink:NamedThing Surgical Procedure by Site or System tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018142 biolink:NamedThing pyruvate carboxylase deficiency, severe neonatal type Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. tmpak2llvmy_mondo_relaxed.owl pyruvate carboxylase deficiency type B UMLS:CN204539|ICD10:E74.4|Orphanet:353314 owl:Class MONDO:0009949 biolink:NamedThing pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. tmpak2llvmy_mondo_relaxed.owl Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis type II|Leigh syndrome due to PC deficiency|Pc deficiency|ataxia with lactic acidosis type 2|Leigh syndrome due to pyruvate carboxylase deficiency|pyruvate carboxylase deficiency|ataxia with lactic acidosis 2|deficiency of pyruvic carboxylase|pyruvate carboxylase deficiency disease NCIT:C85040|UMLS:C0034341|EFO:1001142|OMIM:266150|ICD9:277.89|UMLS:C2931141|UMLS:CN203409|SCTID:87694001|ICD10:E74.4|MESH:D015324|Orphanet:3008|DOID:3651|GARD:0007512 owl:Class MONDO:0011303 biolink:NamedThing focal segmental glomerulosclerosis 1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. tmpak2llvmy_mondo_relaxed.owl focal segmental glomerulosclerosis type 1|focal segmental glomerulosclerosis 1|FSGS1|ACTN4 focal segmental glomerulosclerosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|glomerulosclerosis, focal segmental, 1|focal segmental glomerulosclerosis caused by mutation in ACTN4 ICD10:N04.1|Orphanet:93213|MESH:C538457|DOID:0111128|OMIM:603278 owl:Class NCBITaxon:31245 biolink:NamedThing Schistosomatidae tmpak2llvmy_mondo_relaxed.owl blood flukes GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001948 biolink:NamedThing regional part of spinal cord A multi-tissue structure that is part of a spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord part owl:Class UBERON:0000073 biolink:NamedThing regional part of nervous system Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. tmpak2llvmy_mondo_relaxed.owl part of nervous system owl:Class MONDO:0033621 biolink:NamedThing spinal muscular atrophy, infantile, James type tmpak2llvmy_mondo_relaxed.owl SMAJI OMIM:619042 owl:Class MONDO:0009230 biolink:NamedThing fibrosclerosis, multifocal tmpak2llvmy_mondo_relaxed.owl mediastinal fibrosis, familial|retroperitoneal fibrosis, familial|multifocal fibrosclerosis|fibrosclerosis, multifocal SCTID:111210001|ICD10:M35.5|ICD9:710.8|OMIM:228800|GARD:0005697|MESH:C537375 owl:Class MONDO:0018848 biolink:NamedThing IgG4-related retroperitoneal fibrosis Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. tmpak2llvmy_mondo_relaxed.owl idiopathic retroperitoneal fibrosis|retroperitoneal fibrosis|Ormond disease|Ormond's disease NCIT:C26876|MESH:D012185|Orphanet:49041|ICD10:N13.5|GARD:0009568|ICD9:593.4|SCTID:197808006|MedDRA:10038979 Editor note: TODO consider splitting out RF as separate term owl:Class GO:0005231 biolink:NamedThing excitatory extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005230 biolink:NamedThing extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30650 biolink:NamedThing STRA6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023061 biolink:NamedThing enamel hypoplasia cataract hydrocephaly tmpak2llvmy_mondo_relaxed.owl GARD:0002106 https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly owl:Class HGNC:6210 biolink:NamedThing CD82 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100075 biolink:NamedThing jaw fracture A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. tmpak2llvmy_mondo_relaxed.owl lower jaw fracture|upper jaw fracture 2019-02-06 06:57:26+00:00 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011469 biolink:NamedThing congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia congenital amegakaryocytic|amegakaryocytic thrombocytopenia, congenital|congenital amegakaryocytic thrombocytopenia|CAMT|congenital amegakaryocytic thrombocytopenic purpura NCIT:C115207|OMIM:604498|GARD:640|SCTID:716336002|UMLS:C1327915|DOID:0090118|MESH:C535982|Orphanet:3319|GARD:0000640|ICD10:D61.0 https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia owl:Class MONDO:0020634 biolink:NamedThing grade III meningioma A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma. tmpak2llvmy_mondo_relaxed.owl grade III meningioma|meningioma, malignant|grade 3 meningioma|WHO grade III meningioma NCIT:C38938 owl:Class UBERON:0005677 biolink:NamedThing caecum mesentery A mesentery that is part of a caecum. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903770 biolink:NamedThing negative regulation of beta-galactosidase activity Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. tmpak2llvmy_mondo_relaxed.owl downregulation of oryzatym|negative regulation of beta-D-galactanase activity|downregulation of sumiklat|down-regulation of lactose hydrolysis|inhibition of exo-(1->4)-beta-D-galactanase activity|down regulation of lactose hydrolysis|down-regulation of exo-(1->4)-beta-D-galactanase activity|down-regulation of trilactase activity|downregulation of beta-D-lactosidase activity|negative regulation of lactozym|down-regulation of beta-lactosidase activity|down regulation of exo-(1->4)-beta-D-galactanase activity|down regulation of beta-D-galactanase activity|inhibition of lactozym|downregulation of hydrolact|down regulation of oryzatym|down-regulation of sumiklat|downregulation of beta-D-galactoside galactohydrolase activity|negative regulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|downregulation of lactose hydrolysis|negative regulation of sumiklat|down-regulation of beta-galactosidase activity|down regulation of beta-D-galactoside galactohydrolase activity|down regulation of beta-lactosidase activity|downregulation of maxilact|down-regulation of hydrolact|negative regulation of beta-D-galactoside galactohydrolase activity|inhibition of beta-lactosidase activity|down regulation of beta-D-lactosidase activity|negative regulation of beta-D-lactosidase activity|down regulation of sumiklat|negative regulation of hydrolact|downregulation of beta-D-galactanase activity|down-regulation of S 2107|down regulation of lactozym|negative regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of hydrolact|downregulation of trilactase activity|downregulation of beta-lactosidase activity|down regulation of S 2107|inhibition of beta-D-lactosidase activity|negative regulation of trilactase activity|negative regulation of beta-lactosidase activity|down regulation of maxilact|down-regulation of maxilact|negative regulation of oryzatym|downregulation of S 2107|inhibition of lactose hydrolysis|down-regulation of beta-D-galactanase activity|down-regulation of beta-D-lactosidase activity|inhibition of sumiklat|down regulation of beta-galactosidase activity|downregulation of beta-galactosidase activity|downregulation of lactozym|negative regulation of maxilact|inhibition of beta-D-galactoside galactohydrolase activity|inhibition of maxilact|down regulation of trilactase activity|downregulation of exo-(1->4)-beta-D-galactanase activity|down-regulation of oryzatym|negative regulation of S 2107|inhibition of S 2107|down regulation of hydrolact|inhibition of oryzatym|down-regulation of lactozym|inhibition of trilactase activity|inhibition of beta-galactosidase activity|inhibition of beta-D-galactanase activity owl:Class HGNC:3003 biolink:NamedThing DPH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006364 biolink:NamedThing peritoneal well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma. tmpak2llvmy_mondo_relaxed.owl peritoneal well differentiated papillary mesothelioma|peritoneal WDPM NCIT:C45661|UMLS:C1709507|EFO:1000469 owl:Class MONDO:0003688 biolink:NamedThing well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. tmpak2llvmy_mondo_relaxed.owl benign/Intermediate mesothelioma|well-differentiated papillary neoplasm of the mesothelium|well-differentiated mesothelial papillary neoplasm|well-differentiated mesothelial papillary tumor|benign intermediate mesothelioma|well differentiated papillary mesothelioma|well-differentiated papillary tumor of mesothelium|well-differentiated papillary neoplasm of mesothelium|well-differentiated papillary tumor of the mesothelium|WDPM ICDO:9052/1|NCIT:C7635|UMLS:C1337012|DOID:5884 owl:Class MONDO:0032637 biolink:NamedThing ciliary dyskinesia, primary, 39 tmpak2llvmy_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 39|CILD39 OMIM:618254 owl:Class MONDO:0001260 biolink:NamedThing cercarial dermatitis An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. tmpak2llvmy_mondo_relaxed.owl lake Itch|Sea bather's eruption|cutaneous schistosomiasis|duck Itch|swimmer's itch UMLS:C0546996|NCIT:C128349|DOID:11302|UMLS:C4282208|ICD9:120.3|GARD:0009747|ICD9:709.8|SCTID:238534006|ICD10:B65.3 https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis owl:Class HP:0003577 biolink:NamedThing Congenital onset A phenotypic abnormality that is present at birth. tmpak2llvmy_mondo_relaxed.owl Intrauterine onset|Onset at birth|Symptoms present at birth|Prenatal onset|Onset in utero UMLS:C1836142|UMLS:C2752013 Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). HP:0003595|HP:0003666|HP:0003624|HP:0003601|HP:0003660 human_phenotype owl:Class PR:000001786 biolink:NamedThing prominin-1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090596 biolink:NamedThing sensory organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014487 biolink:NamedThing distal phalanx of digit 5 A distal phalanx that is part of a digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl distal phalanx of 5th digit|distal phalanx of little digit|fifth distal phalanx|distal phalanx of digit V|digit 5 distal phalanx|5th digit distal phalanx|distal phalanx of fifth digit|digit V P3|fifth digit distal phalanx owl:Class MONDO:0018119 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:352309|UMLS:CN227266 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class MONDO:0011143 biolink:NamedThing cone-rod dystrophy 6 Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|cone-rod dystrophy caused by mutation in GUCY2D|cone-rod dystrophy 6|RCD2|CORD6|cone-rod dystrophy type 6 DOID:0111011|GARD:0010656|OMIM:601777|UMLS:C1866293|MESH:C538363 owl:Class MONDO:0100454 biolink:NamedThing GUCY2D retinopathy Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl retinopathy caused by mutation in GUCY2D http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0015199 biolink:NamedThing aniridia - intellectual disability syndrome Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. tmpak2llvmy_mondo_relaxed.owl Walker-Dyson syndrome|Walker Dyson syndrome|aniridia associated with intellectual disability and other eye abnormalities|aniridia associated with mental retardation and other eye abnormalities UMLS:C2931243|MESH:C536568|GARD:0005530|Orphanet:1068 owl:Class MONDO:0016486 biolink:NamedThing beta-thalassemia major Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. tmpak2llvmy_mondo_relaxed.owl Cooley's Anemia|Mediterranean anemia|Beta thalassemia Major|Cooley anemia NCIT:C129699|SCTID:26682008|ICD9:282.49|Orphanet:231214|ICD10:D56.1 owl:Class CL:1000481 biolink:NamedThing transitional myocyte of atrioventricular bundle A transitional myocyte that is part of the atrioventricular bundle. tmpak2llvmy_mondo_relaxed.owl FMA:83885|FMA:83388 cell owl:Class CL:2000046 biolink:NamedThing ventricular cardiac muscle cell Any cardiac muscle cell that is part of a cardiac ventricle. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-08-12T20:50:28Z cell owl:Class MONDO:0002937 biolink:NamedThing nodular basal cell carcinoma A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, nodular (morphologic abnormality)|skin nodulo-ulcerative basal cell carcinoma|Rodent Ulcer|skin solid (nodular) basal cell carcinoma|Nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|basal cell carcinoma, nodular UMLS:C1304300|SCTID:403910009|NCIT:C5568|DOID:4280 owl:Class MONDO:0020447 biolink:NamedThing coronary sinus atresia tmpak2llvmy_mondo_relaxed.owl Orphanet:99118|ICD10:Q21.1 owl:Class MONDO:0002936 biolink:NamedThing scrotum basal cell carcinoma A scrotal carcinoma that involves the basal cell. tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma of scrotum|skin basal cell carcinoma of scrotum|scrotal basal cell carcinoma|scrotum skin basal cell carcinoma|basal cell carcinoma of the scrotum|basal cell scrotal carcinoma UMLS:C1335934|DOID:4278|NCIT:C6386 owl:Class MONDO:0015608 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. tmpak2llvmy_mondo_relaxed.owl AML and myelodysplastic syndromes related to radiation UMLS:CN199981|Orphanet:164726 owl:Class MONDO:0019457 biolink:NamedThing therapy related acute myeloid leukemia and myelodysplastic syndrome An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl Secondary Acute myeloblastic Leukemia|Secondary Acute myelocytic Leukemia|Secondary Acute myelogenous Leukemia|Secondary Acute myeloid Leukemia (AML)|secondary acute myeloid leukemia|therapy-related AML and myelodysplastic syndrome|Secondary Acute granulocytic Leukemia|Secondary AGL|secondary AML Orphanet:86846|SCTID:721306009|NCIT:C25765|ICD10:C92.0|GARD:0012762 https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome owl:Class HGNC:12565 biolink:NamedThing UNC119 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008821 biolink:NamedThing arthrogryposis, distal, with intellectual disability and characteristic facies tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies OMIM:208081|UMLS:C1859723|MESH:C565940 owl:Class GO:0019815 biolink:NamedThing B cell receptor complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpak2llvmy_mondo_relaxed.owl BCR complex|B cell receptor accessory molecule complex|B-cell receptor complex|antibody|B-lymphocyte receptor complex|immunoglobulin complex, membrane bound|B lymphocyte receptor complex owl:Class MONDO:0014201 biolink:NamedThing developmental and epileptic encephalopathy, 18 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 18|EIEE18|early infantile epileptic encephalopathy without suppression burst|DEE18|epileptic encephalopathy, early infantile, 18 DOID:0080413|ICD10:G40.4|UMLS:C3809624|OMIM:615476|Orphanet:369894 owl:Class MONDO:0015654 biolink:NamedThing idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:166475|UMLS:CN200064 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: epilepsy MONDO_0005027 owl:Class MONDO:0000964 biolink:NamedThing skin lipoma A benign or malignant adipose tissue neoplasm of the skin. tmpak2llvmy_mondo_relaxed.owl cutaneous lipoma|cutaneous lipomatous tumor|zone of skin lipoma|lipoma of zone of skin|skin lipoma|lipoma of face|lipoma of skin|lipoma of the skin NCIT:C4616|ICD9:214.0|SCTID:255187008|ICD9:214.1|DOID:10188 owl:Class MONDO:0018676 biolink:NamedThing eosinophilic angiocentric fibrosis tmpak2llvmy_mondo_relaxed.owl EAF|eosinophilic angiocentric fibrosis|Sinonasal eosinophilic angiocentric fibrosis|IgG4-related eosinophilic angiocentric fibrosis GARD:0002032|ICD10:J39.8|Orphanet:449566 https://rarediseases.info.nih.gov/diseases/2032/eaf owl:Class MONDO:0003707 biolink:NamedThing distal biliary tract carcinoma A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. tmpak2llvmy_mondo_relaxed.owl distal bile duct cancer|distal bile duct carcinoma|distal biliary tract carcinoma|extrahepatic (distal) bile duct cancer|carcinoma of the distal biliary tract|carcinoma of distal biliary tract UMLS:C1333308|DOID:5923|NCIT:C7109 owl:Class HGNC:28385 biolink:NamedThing VWA3B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009622 biolink:NamedThing pronephric proximal straight tubule A proximal straight tubule that is part of a pronephros. tmpak2llvmy_mondo_relaxed.owl proximal straight tubules owl:Class GO:0099699 biolink:NamedThing integral component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010657 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblX tmpak2llvmy_mondo_relaxed.owl methylmalonic acidemia and homocysteinemia type cblX|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|intellectual disability, X-linked 3 MESH:C563136|Orphanet:369962|GARD:0013137|ICD10:E71.1|OMIM:309541|UMLS:C0796208 owl:Class MONDO:0023203 biolink:NamedThing Fuchs atrophia gyrata chorioideae et retinae tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18821 biolink:NamedThing LIPI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006169 biolink:NamedThing complex endometrial hyperplasia A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. tmpak2llvmy_mondo_relaxed.owl EFO:1000202|ICD9:621.32|UMLS:C0349578|SCTID:198322002|NCIT:C35423 owl:Class MONDO:0008435 biolink:NamedThing Somatomedin, embryonic tmpak2llvmy_mondo_relaxed.owl Somatomedin, embryonic OMIM:182400 owl:Class MONDO:0011094 biolink:NamedThing dilated cardiomyopathy 1C A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy 1C with or without left ventricular noncompaction|CMDC1|cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy type 1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|CMD1C|left ventricular noncompaction 3 OMIM:601493|ICD10:I42.0|NCIT:C170436|MESH:C563307|DOID:0110423 owl:Class MONDO:0012564 biolink:NamedThing Polyosteolysis-hyperostosis syndrome tmpak2llvmy_mondo_relaxed.owl Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome MESH:C563658|OMIM:610830|GARD:0010456|UMLS:C1835818 https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome owl:Class MONDO:0014871 biolink:NamedThing retinitis pigmentosa 75 Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene. tmpak2llvmy_mondo_relaxed.owl AGBL5 retinitis pigmentosa|RP75|retinitis pigmentosa caused by mutation in AGBL5|retinitis pigmentosa type 75|retinitis pigmentosa 75 DOID:0110361|UMLS:C4310759|ICD10:H35.5|OMIM:617023 owl:Class MONDO:0014206 biolink:NamedThing severe early-onset pulmonary alveolar proteinosis due to MARS deficiency tmpak2llvmy_mondo_relaxed.owl ILLD|hereditary pulmonary alveolar proteinosis with hepatic involvement|pulmonary alveolar proteinosis, Reunion Island|interstitial lung and liver disease|pulmonary alveolar proteinosis, Reunion island type|infantile liver failure syndrome 2, formerly|PAP, Reunion island type|infantile liver failure syndrome 2 OMIM:615486|Orphanet:440427|UMLS:C4225400|ICD10:J84.0 https://github.com/monarch-initiative/mondo/issues/2420 owl:Class MONDO:0044921 biolink:NamedThing atypical lymphoproliferative disorder tmpak2llvmy_mondo_relaxed.owl atypical lymphoid hyperplasia|atypical lymphoproliferative disorder UMLS:C0272217|SCTID:20991001|NCIT:C7764 owl:Class MONDO:0060782 biolink:NamedThing premalignant hematological system disease A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes. tmpak2llvmy_mondo_relaxed.owl premalignant hematologic condition NCIT:C27274|UMLS:C1335471 owl:Class MONDO:0003746 biolink:NamedThing ciliary body spindle cell melanoma A spindle cell melanoma that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl spindle cell melanoma of ciliary body|spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma DOID:6043|UMLS:C1333052|NCIT:C6117 owl:Class HGNC:23215 biolink:NamedThing PIGO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011774 biolink:NamedThing autosomal recessive nonsyndromic deafness 30 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 30|autosomal recessive nonsyndromic deafness type 30|MYO3A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 30|DFNB30|autosomal recessive nonsyndromic deafness 30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A|deafness, autosomal recessive 30 OMIM:607101|UMLS:C1846784|MESH:C564624|ICD10:H90.3|DOID:0110489 owl:Class CHEBI:134179 biolink:NamedThing volatile organic compound Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. tmpak2llvmy_mondo_relaxed.owl volatile organic compounds|VOC|VOCs owl:Class MONDO:0100394 biolink:NamedThing acute myeloid leukemia, t(1;22) Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.) tmpak2llvmy_mondo_relaxed.owl AML, t(1;22) owl:Class UBERON:0006173 biolink:NamedThing pronephric proximal tubule tmpak2llvmy_mondo_relaxed.owl pronephros proximal tubule owl:Class MONDO:0030317 biolink:NamedThing cardiomyopathy, familial hypertrophic, 28 tmpak2llvmy_mondo_relaxed.owl CMH28|cardiomyopathy, familial hypertrophic, 28 OMIM:619402 owl:Class MONDO:0020521 biolink:NamedThing Ehlers-Danlos syndrome type 7A tmpak2llvmy_mondo_relaxed.owl EDS VIIA UMLS:CN207418|Orphanet:99875|ICD10:Q79.6 owl:Class MONDO:0000133 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. tmpak2llvmy_mondo_relaxed.owl immunodeficiency-centromeric instability-facial anomalies syndrome|ICF syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies GARD:0002945|OMIMPS:242860|SCTID:234633000|DOID:0090007|Orphanet:2268|ICD10:D84.8|MESH:C537362|UMLS:CN201349 owl:Class HGNC:2228 biolink:NamedThing COMT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018394 biolink:NamedThing male infertility with teratozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. tmpak2llvmy_mondo_relaxed.owl SCTID:764096006|UMLS:CN252642|ICD10:N46|Orphanet:399808|GARD:0012514 owl:Class CL:0001032 biolink:NamedThing cortical granule cell Granule cell that is part of the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl cell owl:Class ECTO:9001718 biolink:NamedThing exposure to anti-inflammatory drug An exposure to anti-inflammatory drug. tmpak2llvmy_mondo_relaxed.owl exposure to anti-inflammatory drug owl:Class MONDO:0012354 biolink:NamedThing platelet-type bleeding disorder 8 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. tmpak2llvmy_mondo_relaxed.owl bleeding disorder due to P2Rx1 defect, somatic|bleeding disorder, platelet-type 8|P2Y12 defect|platelet-type bleeding disorder 8|ADP platelet receptor P2Y12 defect|bleeding disorder due to P2Ry12 defect|bleeding disorder, platelet-type, 8|BDPLT8 MESH:C565220|Orphanet:36355|OMIM:609821|SCTID:725291001|ICD10:D69.8|DOID:0060692|GARD:0012478|UMLS:C1853278 owl:Class MONDO:0000516 biolink:NamedThing phalanx chondroma A chondroma that involves the phalanx. tmpak2llvmy_mondo_relaxed.owl phalanx chondroma DOID:0050898 owl:Class MONDO:0011989 biolink:NamedThing leishmaniasis Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). tmpak2llvmy_mondo_relaxed.owl visceral leishmaniasis (subtype)|post-kala-azar dermal infectious disease by leishmaniasis|post-kala-azar dermal leishmaniasis|cutaneous leishmaniasis (subtype)|post kala-Azar dermal leishmaniasis ICD10:B55.0|NCIT:C34767|SCTID:80612004|MESH:D007896|DOID:9065|ICD9:085|ICD10:B55.2|UMLS:C0023281|GARD:0006881|MedDRA:10024198|ICD10:B55.9|ICD10:B55.1|ICD10:B55|ICD9:085.9|EFO:0005044|Orphanet:507 owl:Class MONDO:0011523 biolink:NamedThing Bardet-Biedl syndrome 6 tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 6|Bardet-Biedl syndrome type 6|BBS6 ICD10:Q87.89|GARD:0010205|DOID:0110128|UMLS:C1858054|MESH:C565738|OMIM:605231 https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 owl:Class HGNC:1706 biolink:NamedThing CD8A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030858 biolink:NamedThing immunodeficiency 75 tmpak2llvmy_mondo_relaxed.owl immunodeficiency 75|IMD75 OMIM:619126 owl:Class MONDO:0000939 biolink:NamedThing intracranial abscess An abscess that is located in the intracranial space. tmpak2llvmy_mondo_relaxed.owl SCTID:27614006|DOID:10095|NCIT:C34734|ICD9:324.0|UMLS:C0021874 owl:Class MONDO:0011041 biolink:NamedThing ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth, Turnpenny type Orphanet:69083|MESH:C563347|GARD:0010526|SCTID:715576000|OMIM:601345|UMLS:C1832444 https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type owl:Class MONDO:0005748 biolink:NamedThing enzootic pneumonia of calves Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species. tmpak2llvmy_mondo_relaxed.owl UMLS:C0276046|MESH:D048089|EFO:0007256 owl:Class MONDO:0030311 biolink:NamedThing combined oxidative phosphorylation deficiency 52 tmpak2llvmy_mondo_relaxed.owl COXPD52|combined oxidative phosphorylation deficiency 52 OMIM:619386 owl:Class GO:1904363 biolink:NamedThing negative regulation of calcitonin secretion Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion. tmpak2llvmy_mondo_relaxed.owl down-regulation of calcitonin secretion|down regulation of calcitonin secretion|downregulation of calcitonin secretion|inhibition of calcitonin secretion owl:Class MONDO:0002801 biolink:NamedThing colonic pseudo-obstruction Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. tmpak2llvmy_mondo_relaxed.owl primary chronic pseudo-obstruction of colon|acute colonic ileus|Ogilvie's syndrome|acute colonic pseudo-obstruction|ACPO ICD9:564.89|SCTID:35065006|EFO:1000871|MESH:D003112|GARD:0007248|DOID:3876|UMLS:C0009377 owl:Class MONDO:0002802 biolink:NamedThing functional colonic disease Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. tmpak2llvmy_mondo_relaxed.owl MESH:D003109|UMLS:C0009374|DOID:3877 owl:Class UBERON:0013581 biolink:NamedThing metapodium bone 1 A metapodium bone that is part of a digit 1 plus metapodial segment. tmpak2llvmy_mondo_relaxed.owl metapodium 1|metapodium I owl:Class MONDO:0012451 biolink:NamedThing esophagitis, eosinophilic, 1 tmpak2llvmy_mondo_relaxed.owl esophagitis, eosinophilic, 1|EOE1|esophagitis, eosinophilic OMIM:610247 owl:Class MONDO:0005361 biolink:NamedThing eosinophilic esophagitis Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). tmpak2llvmy_mondo_relaxed.owl EoE NCIT:C27105|ICD10:K20.0|SCTID:235599003|UMLS:C0341106|DOID:13922|ICD9:530.13|Orphanet:73247|EFO:0004232|ICD10:K20|MESH:D057765|MedDRA:10064212 owl:Class HGNC:1161 biolink:NamedThing CEP55 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3147 biolink:NamedThing ECEL1 tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000019 biolink:NamedThing quality tmpak2llvmy_mondo_relaxed.owl Quality quality a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001]) the length of the circumference of your waist|the shape of your nostril|the shape of your nose|the mass of this piece of gold.|the color of a tomato|the ambient temperature of this portion of air (forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001] |(forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001] If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001]) owl:Class MONDO:0012058 biolink:NamedThing myocardial infarction, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl myocardial infarction, susceptibility to, 2|myocardial infarction, susceptibility to, type 2|Mci2 OMIM:608557|UMLS:C1837871 owl:Class MONDO:0019944 biolink:NamedThing Eisenmenger syndrome Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. tmpak2llvmy_mondo_relaxed.owl Eisenmenger's syndrome NCIT:C84390|MedDRA:10058554|SCTID:445928005|MESH:D004541|GARD:0006323|ICD10:I27.2|UMLS:C0013743|Orphanet:97214 https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome owl:Class MONDO:0004205 biolink:NamedThing lymphohistiocytoid mesothelioma tmpak2llvmy_mondo_relaxed.owl UMLS:C1334464|DOID:7381|NCIT:C27779 owl:Class MONDO:0006407 biolink:NamedThing sarcomatoid mesothelioma A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. tmpak2llvmy_mondo_relaxed.owl sarcomatoid mesothelioma (morphologic abnormality)|malignant fibrous mesothelioma (morphologic abnormality)|malignant fibrous mesothelioma|spindled mesothelioma|sarcomatoid mesothelioma NCIT:C45655|EFO:1000521|DOID:4488|UMLS:C0334513 owl:Class MONDO:0005982 biolink:NamedThing tinea infection A skin infection caused by a fungus. tmpak2llvmy_mondo_relaxed.owl Tinea infectious disease|Tinea infection|ringworm|Tinea caused disease or disorder|Tinea|Tinea disease or disorder NCIT:C112181|UMLS:C0040247|EFO:0007510 Editor note: consider obsoleting as this is a loose grouping owl:Class MONDO:0022599 biolink:NamedThing brachydactyly anonychia tmpak2llvmy_mondo_relaxed.owl GARD:0000962 https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia owl:Class MONDO:0014777 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. tmpak2llvmy_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|IHPRF2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies type 2 OMIM:616801|UMLS:C4225203 owl:Class MONDO:0009829 biolink:NamedThing pallidal degeneration, progressive, with retinitis pigmentosa tmpak2llvmy_mondo_relaxed.owl pallidal degeneration, progressive, with retinitis pigmentosa MESH:C564910|OMIM:260200|UMLS:C1850101 owl:Class MONDO:0017866 biolink:NamedThing subpulmonary stenosis tmpak2llvmy_mondo_relaxed.owl UMLS:C3165028|Orphanet:3190|SCTID:448476001|GARD:0005051|ICD10:Q24.3 https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis owl:Class MONDO:0011441 biolink:NamedThing complex regional pain syndrome type 1 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. tmpak2llvmy_mondo_relaxed.owl Algodystrophy|RSDS|Complex regional pain syndrome I|reflex neurovascular dystrophy|CRPS1|RND|reflex sympathetic dystrophy|complex regional pain syndrome type 1|CRPS I|reflex sympathetic dystrophy syndrome ICD9:337.29|SCTID:50642008|MESH:D012019|MedDRA:10064334|ICD9:337.20|NCIT:C85042|MedDRA:10038249|EFO:1001147|ICD10:M89.0|Orphanet:99995|ICD9:337.2|DOID:1811|OMIM:604335|ICD9:733.7|ICD10:G90.5|UMLS:C0034931|ICD9:337.21 owl:Class MONDO:0001502 biolink:NamedThing retroperitoneum carcinoma A carcinoma that arises from epithelial cells of the retroperitoneal space. tmpak2llvmy_mondo_relaxed.owl carcinoma of the retroperitoneum|retroperitoneal space carcinoma|retroperitoneal cancer|carcinoma of retroperitoneal space|retroperitoneal carcinoma|carcinoma of retroperitoneum UMLS:C0948749|DOID:12342|NCIT:C7352 owl:Class MONDO:0010380 biolink:NamedThing cataract, ataxia, short stature, and intellectual disability tmpak2llvmy_mondo_relaxed.owl cataracts, ataxia, short stature, and intellectual disability|Casm syndrome|cataract, ataxia, short stature, and intellectual disability|cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and mental retardation UMLS:C1845094|MESH:C535345|OMIM:300619|GARD:0010222 owl:Class MONDO:0012677 biolink:NamedThing atrial fibrillation, familial, 4 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene. tmpak2llvmy_mondo_relaxed.owl ATFB4|KCNE2 familial atrial fibrillation|atrial fibrillation, familial, 4|familial atrial fibrillation caused by mutation in KCNE2|atrial fibrillation, familial, type 4 MESH:C566244|UMLS:C1862394|OMIM:611493 owl:Class GO:0019887 biolink:NamedThing protein kinase regulator activity Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019207 biolink:NamedThing kinase regulator activity Modulates the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032796 biolink:NamedThing hyper-ige recurrent infection syndrome 4, autosomal recessive tmpak2llvmy_mondo_relaxed.owl HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE|HIES4 DOID:0080596|OMIM:618523 owl:Class CHEBI:37734 biolink:NamedThing phosphoric ester tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35701 biolink:NamedThing ester A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. tmpak2llvmy_mondo_relaxed.owl Ester|esters owl:Class MONDO:0020783 biolink:NamedThing capillary malformation-arteriovenous malformation 1 tmpak2llvmy_mondo_relaxed.owl CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|capillary malformation-arteriovenous malformation 1|Capillary Malformation-Arteriovenous Malformation|CMAVM1 OMIM:608354 owl:Class MONDO:0012016 biolink:NamedThing capillary malformation-arteriovenous malformation syndrome This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. tmpak2llvmy_mondo_relaxed.owl capillary malformation-arteriovenous malformation|capillary malformation without arteriovenous malformation|CMAVM|CM-AVM syndrome|CM-AVM GARD:0011904|ICD10:Q27.3|ICD9:747.69|Orphanet:137667|SCTID:703533007|OMIMPS:608354|MESH:C564254 https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome owl:Class MONDO:0004222 biolink:NamedThing ovarian clear cell cystadenocarcinoma A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. tmpak2llvmy_mondo_relaxed.owl ovarian clear cell cystadenocarcinoma DOID:7438|UMLS:C0279667|NCIT:C7980 owl:Class MONDO:0006045 biolink:NamedThing ovarian clear cell adenocarcinoma A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. tmpak2llvmy_mondo_relaxed.owl clear cell adenocarcinoma of ovary|clear cell adenocarcinoma of the ovary|ovarian clear cell adenocarcinoma|ovary clear cell adenocarcinoma UMLS:C1518693|NCIT:C40078|Orphanet:398971|UMLS:CN205034|EFO:1000042|SCTID:763131005|ICD10:C56|DOID:5304 owl:Class MONDO:0017031 biolink:NamedThing primary interstitial lung disease in childhood and adulthood tmpak2llvmy_mondo_relaxed.owl primary ILD in childhood and adulthood UMLS:CN202342|Orphanet:264762 owl:Class GO:1900449 biolink:NamedThing regulation of glutamate receptor signaling pathway Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of glutamate signalling pathway|regulation of glutamate signaling pathway owl:Class MONDO:0002872 biolink:NamedThing trophoblastic neoplasm A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. tmpak2llvmy_mondo_relaxed.owl trophoblastic tumor (qualifier value)|tumor of trophoblast|neoplasm of trophoblast|trophoblast neoplasm|trophoblast tumor|trophoblastic neoplasms|trophoblastic neoplasm (morphologic abnormality)|trophoblast neoplasm (disease)|trophoblastic tumor|trophoblastic neoplasm|trophoblastic neoplasm NOS (morphologic abnormality) DOID:4085|MESH:D014328|NCIT:C3422|UMLS:C0041182 owl:Class GO:0047865 biolink:NamedThing dimethylglycine dehydrogenase activity Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. tmpak2llvmy_mondo_relaxed.owl N,N-dimethylglycine oxidase activity|N,N-dimethylglycine:acceptor oxidoreductase (demethylating)|N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating) owl:Class MONDO:0018391 biolink:NamedThing male infertility with spermatogenesis disorder tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN227339|Orphanet:399775|GARD:0012512|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0010584 biolink:NamedThing dyskeratosis congenita, X-linked X-linked form of dyskeratosis congenita. tmpak2llvmy_mondo_relaxed.owl Hoyeraal Hreidarsson syndrome|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|dyskeratosis congenita X-linked|DKCX|X-linked dyskeratosis congenita|dyskeratosis congenita, X-linked|cerebellar hypoplasia with pancytopenia|Zinsser-Cole-Engman syndrome OMIM:305000|NCIT:C126352|DOID:0070025|SCTID:708536001|GARD:0002007 owl:Class MONDO:0003041 biolink:NamedThing pediatric mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in children. tmpak2llvmy_mondo_relaxed.owl pediatric mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood|childhood mesenchymal chondrosarcoma|mesenchymal chondrosarcoma UMLS:C1332982|NCIT:C27374|DOID:4546 owl:Class MONDO:0006853 biolink:NamedThing mesenchymal chondrosarcoma A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. tmpak2llvmy_mondo_relaxed.owl mesenchymal chondrosarcoma EFO:1001041|NCIT:C3737|ONCOTREE:MCHS|MedDRA:10027389|ICDO:9240/3|DOID:4545|MESH:D018211|UMLS:C0206637 owl:Class NCIT:C19683 biolink:NamedThing Personal Behavior The observable response of a person. tmpak2llvmy_mondo_relaxed.owl Personal Behavior|Personal Conduct owl:Class NCIT:C16326 biolink:NamedThing Behavior The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. tmpak2llvmy_mondo_relaxed.owl Behavior|Behavioral|Attitude|Conduct Behavior owl:Class MONDO:0006442 biolink:NamedThing tendon sheath fibroma A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation. tmpak2llvmy_mondo_relaxed.owl fibroma of tendon sheath|tendon sheath fibroma|fibroma of the tendon sheath EFO:1000561|UMLS:C1275236|SCTID:403992002|NCIT:C6485|ICD9:215.9 owl:Class HP:0011947 biolink:NamedThing Respiratory tract infection An infection of the upper or lower respiratory tract. tmpak2llvmy_mondo_relaxed.owl Respiratory infection|Respiratory infections|Respiratory tract infection MSH:D012141|SNOMEDCT_US:275498002|UMLS:C0035243 peter 2012-06-21T08:26:36Z human_phenotype owl:Class MONDO:0005804 biolink:NamedThing hyperprolactinemia Abnormally high level of prolactin in the blood. tmpak2llvmy_mondo_relaxed.owl hyperprolactinaemia|inappropriate secretion prolactin|inappropriate prolactin secretion|prolactin, inappropriate secretion|hyperprolactinemia (disease)|secretion prolactin, inappropriate|syndrome, prolactin hypersecretion|hyperprolactinemia|prolactin secretion, inappropriate|hypersecretion syndrome, prolactin|hyperprolactinemias|prolactin hypersecretion syndrome|secretion, inappropriate prolactin|inappropriate prolactin secretion syndrome hyperprolactinemia (disease) SCTID:237662005|ICD9:253.1|EFO:0007319|HP:0000870|ICD10:E22.1|UMLS:C0020514|MESH:D006966 owl:Class NCBITaxon:1280412 biolink:NamedThing Conoidasida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:2000858 biolink:NamedThing regulation of aldosterone secretion Any process that modulates the frequency, rate or extent of aldosterone secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016280 biolink:NamedThing sarcoma of cervix uteri A sarcoma involving a uterine cervix. tmpak2llvmy_mondo_relaxed.owl malignant mesenchymal tumor of cervix uteri|sarcoma of uterine cervix|cervical malignant mesenchymal tumor|uterine cervix sarcoma|cervical sarcoma ICD10:C53.8|UMLS:CN201070|ICD10:C53.1|ICD10:C53.0|Orphanet:213797 owl:Class MONDO:0010289 biolink:NamedThing intellectual disability, X-linked 72 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 72|intellectual disability, X-linked type 72|MRX72|mental retardation, X-linked type 72|mental retardation, X-linked 72 UMLS:C1846038|OMIM:300271|MESH:C564547 owl:Class MONDO:0014995 biolink:NamedThing neurodevelopmental disorder with hypotonia, seizures, and absent language tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, seizures, and absent language|NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL UMLS:C4310643|OMIM:617268 owl:Class NCBITaxon:5587 biolink:NamedThing Rhinocladiella tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032667 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl EV5|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM:618309 owl:Class MONDO:0010615 biolink:NamedThing isolated growth hormone deficiency type III tmpak2llvmy_mondo_relaxed.owl growth hormone deficiency with hypogammaglobulinemia|X-linked IGHD|X-linked isolated growth hormone deficiency|Growth hormone deficiency with hypogammaglobulinemia|congenital isolated growth hormone deficiency type III|X-linked agammaglobulinemia and isolated growth hormone deficiency|congenital isolated GH deficiency type III|isolated growth hormone deficiency type 3|isolated growth hormone deficiency, type 3|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III|congenital IGHD type III|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|IGHD III|IGHD 3|isolated growth hormone deficiency type III|hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|IGHD3|Fleisher syndrome MESH:C537149|GARD:0003921|DOID:0060875|ICD10:E23.0|Orphanet:231692|OMIM:307200|SCTID:234533006 https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 owl:Class MONDO:0005426 biolink:NamedThing MRI defined brain infarct An infarct detected by MRI and not determined to be clinically significant tmpak2llvmy_mondo_relaxed.owl EFO:0004715 This term represents a finding not a disease, it may be obsoleted in future owl:Class MONDO:0004099 biolink:NamedThing adult cystic teratoma A cystic teratoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult cystic teratoma|cystic teratoma of adults UMLS:C1368888|DOID:7079|NCIT:C9012 owl:Class GO:0060474 biolink:NamedThing positive regulation of flagellated sperm motility involved in capacitation The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence. tmpak2llvmy_mondo_relaxed.owl positive regulation of sperm motility involved in capacitation owl:Class MONDO:0006847 biolink:NamedThing malignant lymphatic vessel tumor Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl EFO:1001032 Editor note: do not axiomatize as cancer of lymphatic vessel owl:Class NCBITaxon:2720871 biolink:NamedThing Aspergillus subgen. Circumdati tmpak2llvmy_mondo_relaxed.owl PMID:28082760|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5052 biolink:NamedThing Aspergillus tmpak2llvmy_mondo_relaxed.owl Chaetosartorya|Phialosimplex|Petromyces|Polypaecilum PMID:28082760|GC_ID:1|PMID:20141373 NCBITaxon:36634|NCBITaxon:743109|NCBITaxon:1131475|NCBITaxon:37503|NCBITaxon:36632 ncbi_taxonomy owl:Class UBERON:0003664 biolink:NamedThing manual digit muscle Any muscle organ that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of digit of hand|finger muscle organ|muscle organ of digitus manus|hand digit muscle|muscle organ of terminal segment of free upper limb digit|muscle organ of digit of terminal segment of free upper limb|muscle organ of hand digit|digitus manus muscle organ|fore limb digit muscle|hand digit muscle organ|digit of hand muscle organ|muscle organ of finger|terminal segment of free upper limb digit muscle organ|digit of terminal segment of free upper limb muscle organ owl:Class MONDO:0008229 biolink:NamedThing peroneal nerve, accessory deep tmpak2llvmy_mondo_relaxed.owl accessory deep peroneal nerve|peroneal nerve, accessory deep UMLS:C1868426|OMIM:170980|GARD:0008546|MESH:C536001 https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve owl:Class MONDO:0011880 biolink:NamedThing candidiasis, familial, 3 tmpak2llvmy_mondo_relaxed.owl candidiasis, familial chronic nail, with Icam1 deficiency|CANDF3|candidiasis, familial, 3|Fcnc UMLS:C1843306|OMIM:607644|MESH:C564361 owl:Class MONDO:0001769 biolink:NamedThing acquired tear duct stenosis tmpak2llvmy_mondo_relaxed.owl stenosis of nasolacrimal duct, acquired|acquired nasolacrimal duct stenosis|tear duct - acquired stenosis|acquired stenosis of nasolacrimal duct DOID:13655|SCTID:193995004|ICD9:375.56|ICD10:H04.55 owl:Class MONDO:0011375 biolink:NamedThing brittle bone disorder tmpak2llvmy_mondo_relaxed.owl brittle bone disorder OMIM:603828|UMLS:C1859069|MESH:C565842 owl:Class NCBITaxon:42414 biolink:NamedThing Sigmodon tmpak2llvmy_mondo_relaxed.owl cotton rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004301 biolink:NamedThing fibrosarcomatous osteosarcoma A conventional osteosarcoma characterized by the presence of spindle shaped cells. tmpak2llvmy_mondo_relaxed.owl fibroblastic osteogenic sarcoma|fibroblastic osteosarcoma|fibroblastic osteosarcoma (morphologic abnormality)|fibrosarcomatous osteogenic sarcoma|FIOS|fibrosarcomatous osteosarcoma NCIT:C4020|UMLS:C0279602|ICDO:9182/3|ONCOTREE:FIOS|DOID:7603 owl:Class MONDO:0010606 biolink:NamedThing hernia, anterior diaphragmatic tmpak2llvmy_mondo_relaxed.owl hernia, anterior diaphragmatic MESH:C564413|OMIM:306950 owl:Class MONDO:0010647 biolink:NamedThing spermatogenic failure, X-linked, 2 Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. tmpak2llvmy_mondo_relaxed.owl spermatogenic failure, X-linked, 2|TEX11 azoospermia|spermatogenic failure, X-linked, type 2|azoospermia caused by mutation in TEX11|Male infertility from defect in meiosis|SPGFX2 DOID:0070185|OMIM:309120|UMLS:C1839841 owl:Class MONDO:0037829 biolink:NamedThing purine metabolism disease A disease that has its basis in the disruption of purine nucleobase metabolic process. tmpak2llvmy_mondo_relaxed.owl disorder of purine metabolism|purine nucleobase metabolic process disease|disorder of purine nucleobase metabolic process SCTID:32612005|UMLS:C0268104 owl:Class HGNC:6180 biolink:NamedThing ITPR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012911 biolink:NamedThing pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). tmpak2llvmy_mondo_relaxed.owl Php 1C|pseudohypoparathyroidism, type 1C|PHP1C|pseudohypoparathyroidism, type IC MESH:C548076|UMLS:C2932716|SCTID:717792007|GARD:0010681|Orphanet:79444|ICD10:E20.1|OMIM:612462 https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c owl:Class MONDO:0007402 biolink:NamedThing creatine phosphokinase, elevated serum tmpak2llvmy_mondo_relaxed.owl creatine phosphokinase, elevated serum|CPK, elevated serum|hyperCKemia, idiopathic OMIM:123320 owl:Class MONDO:0009459 biolink:NamedThing channelopathy-associated congenital insensitivity to pain, autosomal recessive A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) tmpak2llvmy_mondo_relaxed.owl channelopathy-associated CIP|indifference to pain, congenital, autosomal recessive|congenital analgesia, autosomal recessive|CIP|insensitivity to pain, channelopathy-associated|asymbolia for pain|HSAN2D, AR|HSAN2D|neuropathy, hereditary sensory and autonomic, type 2D UMLS:C1855739|ICD10:G60.8|OMIM:243000|Orphanet:88642|GARD:0012267 owl:Class MONDO:0016951 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 18 tmpak2llvmy_mondo_relaxed.owl partial duplication/triplication of the short arm of chromosome 18|partial duplication/triplication of chromosome 18p|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18 Orphanet:262812 owl:Class MONDO:0016936 biolink:NamedThing partial trisomy/tetrasomy of chromosome 18 tmpak2llvmy_mondo_relaxed.owl partial trisomy/tetrasomy of chromosome type 18|partial duplication/triplication of chromosome 18 Orphanet:262682 owl:Class MONDO:0011491 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl EIG7|myoclonic epilepsy, juvenile, 2|epilepsy, idiopathic generalized, susceptibility to, 7 DOID:0111321|OMIM:604827 owl:Class MONDO:0020429 biolink:NamedThing cor triatriatum dexter tmpak2llvmy_mondo_relaxed.owl cor triatriatum dexter|divided right atrium|cor triatriatum dexter (disease)|cor triatriatum dextrum cor triatriatum dexter (disease) GARD:0012483|ICD10:Q24.2|SCTID:274947007|ICD9:746.89|HP:0011566|Orphanet:99098 owl:Class MONDO:0015450 biolink:NamedThing triatrial heart A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. tmpak2llvmy_mondo_relaxed.owl Cor triatriatum NCIT:C84651|ICD10:Q24.2|GARD:0006194|Orphanet:1463|ICD9:746.82|SCTID:55510008 owl:Class HGNC:13902 biolink:NamedThing SERPINB7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004886 biolink:NamedThing diffuse secondary choroid atrophy tmpak2llvmy_mondo_relaxed.owl ICD9:363.42|DOID:981|ICD10:H31.12|UMLS:C0154892|SCTID:193463006 owl:Class MONDO:0044871 biolink:NamedThing dystonia, focal, task-specific tmpak2llvmy_mondo_relaxed.owl musician's dystonia|occupational cramp|musician's cramp|focal hand dystonia|task-specific focal dystonia|FTSD|task-specific dystonia|focal task-specific dystonia|dystonia, focal, task-specific|occupational dystonia MESH:C566973|OMIM:611284|SCTID:230330004 owl:Class PCO:0000031 biolink:NamedThing organismal entity A material entity that is one or more organisms, viruses or viroids. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036301 biolink:NamedThing vasculature of spleen tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001261 biolink:NamedThing Mobitz type II atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) tmpak2llvmy_mondo_relaxed.owl type 2 2nd degree AV block|Mobitz II|Möbitz II|second degree atrioventricular block Mobitz type II|type II second degree atrioventricular block|Möbitz type II second degree AV block|Mobitz (type) II atrioventricular block|second degree atrioventricular block Möbitz type II|AV block second degree Möbitz type II|Mobitz II atrioventricular block|AV block second degree Mobitz type II|type II second degree AV block|type 2 second degree AV block|Mobitz type II second degree AV block DOID:11312|SCTID:28189009|ICD9:426.12|NCIT:C62018|UMLS:C0155700 owl:Class MONDO:0021966 biolink:NamedThing baker Vinters syndrome A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies MESH:C537899|UMLS:C2931659|GARD:0000808 https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome owl:Class MONDO:0017174 biolink:NamedThing Machado-Joseph disease type 1 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. tmpak2llvmy_mondo_relaxed.owl SCA3, Joseph type|azorean disease, type i|spinocerebellar ataxia type 3, Joseph type Orphanet:276238|SCTID:91953003|ICD10:G11.8 owl:Class GO:0005777 biolink:NamedThing peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. tmpak2llvmy_mondo_relaxed.owl peroxisomal|peroxisome vesicle owl:Class GO:0042579 biolink:NamedThing microbody Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009438 biolink:NamedThing hypouricemia, hypercalcinuria, and decreased bone density tmpak2llvmy_mondo_relaxed.owl hypouricemia, hypercalcinuria, and decreased bone density OMIM:242050|MESH:C565475|UMLS:C1855793 owl:Class UBERON:0006534 biolink:NamedThing renal convoluted tubule Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. tmpak2llvmy_mondo_relaxed.owl convoluted tubule|kidney convoluted tubule owl:Class UBERON:0005250 biolink:NamedThing stomatodeum gland A gland that is part of a stomodeum. tmpak2llvmy_mondo_relaxed.owl stomatodaeum gland owl:Class HGNC:14373 biolink:NamedThing GLMN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000479 biolink:NamedThing segmental dystonia A dystonia that affects two or more adjacent parts of the body. tmpak2llvmy_mondo_relaxed.owl DOID:0050838|UMLS:C1997740|ICD9:333.89|SCTID:427945008 owl:Class CHEBI:50315 biolink:NamedThing chloronium tmpak2llvmy_mondo_relaxed.owl H2Cl(+)|chloronium|[ClH2](+)|chloranium owl:Class MONDO:0002117 biolink:NamedThing pancreas sarcoma A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. tmpak2llvmy_mondo_relaxed.owl sarcoma of pancreas|pancreas sarcoma|pancreatic sarcoma|sarcoma of the pancreas UMLS:C1096346|NCIT:C5715|DOID:1796 owl:Class MONDO:0019525 biolink:NamedThing tetrasomy X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). tmpak2llvmy_mondo_relaxed.owl 48 XXXX syndrome|48,XXXX syndrome|48 XXXX|quadruple X|tetra X|tetrasomy type X MESH:C536502|GARD:0007754|ICD9:758.81|SCTID:10567003|UMLS:C0265496|Orphanet:9|ICD10:Q97.1 https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x owl:Class NCBITaxon:1648030 biolink:NamedThing Triticinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11266 biolink:NamedThing Filoviridae tmpak2llvmy_mondo_relaxed.owl Filovirus GC_ID:1 NCBITaxon:11267 ncbi_taxonomy owl:Class MONDO:0021210 biolink:NamedThing trachea neoplasm A neoplasm (disease) that involves the trachea. tmpak2llvmy_mondo_relaxed.owl neoplasm of trachea|tumor of trachea|trachea neoplasm (disease)|trachea tumor|tracheal tumor|neoplasm of the trachea|tumor of the trachea|tracheal neoplasm GTR:AN0505660|GTR:AN0481062|HP:0100551|UMLS:C0040582|NCIT:C3419|EFO:1001437|MESH:D014134 owl:Class GO:0010560 biolink:NamedThing positive regulation of glycoprotein biosynthetic process Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018815 biolink:NamedThing aneurysmal bone cyst A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. tmpak2llvmy_mondo_relaxed.owl aneurysmal cyst of bone|aneurysmal bone cyst|ABC|aneurysmal bone cysts|aneurysmal bone cyst (disease)|aneurysmal cyst of the bone aneurysmal bone cyst (disease) GARD:0008646|ICD9:733.22|NCIT:C3516|SCTID:203468000|HP:0012063|Orphanet:480553|OMIM:606179 https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts owl:Class MONDO:0010927 biolink:NamedThing orofacial cleft 3 tmpak2llvmy_mondo_relaxed.owl OFC3|cleft lip with or without cleft palate, nonsyndromic, 3|orofacial cleft 3 DOID:0080397|OMIM:600757|MESH:C563448|UMLS:C1833369 owl:Class MONDO:0007336 biolink:NamedThing isolated cleft palate A cleft palate that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated cleft palate|nonsyndromic cleft palate|CPI|cleft palate|dominant cleft palate|cleft palate, isolated UMLS:CN234898|ICD10:Q35.7|ICD10:Q35.5|GARD:0001896|ICD10:Q35.9|DOID:0110213|ICD10:Q35.3|ICD10:Q35.1|OMIM:119540 https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate owl:Class GO:0060557 biolink:NamedThing positive regulation of vitamin D biosynthetic process Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:32876 biolink:NamedThing tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. tmpak2llvmy_mondo_relaxed.owl tertiaeres Amin|tertiary amines|R3N|Tertiary amine owl:Class MONDO:0001912 biolink:NamedThing acute frontal sinusitis Acute form of frontal sinusitis. tmpak2llvmy_mondo_relaxed.owl frontal sinusitis, acute SCTID:91038008|ICD10:J01.10|UMLS:C0155805|ICD9:461.1|DOID:14225|ICD10:J01.1 owl:Class HP:0011138 biolink:NamedThing Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpak2llvmy_mondo_relaxed.owl Abnormal skin appendage UMLS:C4023518 peter 2011-06-19T06:25:34Z human_phenotype owl:Class UBERON:0004849 biolink:NamedThing respiratory system venous endothelium An endothelium of vein that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vein endothelium of apparatus respiratorius|venous endothelium of respiratory system|apparatus respiratorius vein endothelium|respiratory system endothelium of vein|apparatus respiratorius venous endothelium|venous endothelium of apparatus respiratorius|respiratory system vein endothelium|apparatus respiratorius endothelium of vein|vein endothelium of respiratory system|endothelium of vein of respiratory system|endothelium of vein of apparatus respiratorius owl:Class MONDO:0019767 biolink:NamedThing hamel cerebro-palato-cardiac syndrome Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpak2llvmy_mondo_relaxed.owl Orphanet:93946|UMLS:CN206702 owl:Class UBERON:0035828 biolink:NamedThing right adrenal gland medulla the adrenal gland medulla that is in the right side of the abdomen tmpak2llvmy_mondo_relaxed.owl right adrenal medulla|medulla of right adrenal gland|medulla of right suprarenal gland owl:Class MONDO:0043472 biolink:NamedThing ectopic ACTH secretion syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) tmpak2llvmy_mondo_relaxed.owl ectopic ACTH secretion causing Cushing's syndrome|hypercortisolism due to nonpituitary tumor|ectopic ACTH syndrome|ACTH syndromes, ectopic|syndrome, ectopic ACTH|ectopic ACTH secretion syndrome|ectopic ACTH syndromes|syndromes, ectopic ACTH|ectopic ACTH secretion NCIT:C4387|SCTID:626004|UMLS:C0001231|MESH:D000182 owl:Class MONDO:0024744 biolink:NamedThing childhood choroid plexus neoplasm A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl choroid plexus neoplasm|childhood choroid plexus neoplasm|choroid plexus neoplasm of childhood|pediatric choroid plexus neoplasm NCIT:C42080 owl:Class GO:0034309 biolink:NamedThing primary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpak2llvmy_mondo_relaxed.owl primary alcohol anabolism|primary alcohol synthesis|primary alcohol biosynthesis|primary alcohol formation|monohydric alcohol biosynthetic process owl:Class HGNC:18455 biolink:NamedThing PROK2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:3398 biolink:NamedThing Magnoliopsida tmpak2llvmy_mondo_relaxed.owl Magnoliophyta|flowering plants|Angiospermae|angiosperms GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class NCBITaxon:58024 biolink:NamedThing Spermatophyta tmpak2llvmy_mondo_relaxed.owl seed plants GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021543 biolink:NamedThing hemangioma of gingiva A hemangioma that involves the gingiva. tmpak2llvmy_mondo_relaxed.owl gum angioma|gingival angioma|hemangioma of the gingiva|gingival hemangioma|angioma of gingiva|gum hemangioma|gingiva hemangioma|hemangioma of gum|angioma of the gingiva|angioma of the gum|angioma of gum|hemangioma of the gum NCIT:C4831|ICD9:228.09|UMLS:C0582885|SCTID:304990002 owl:Class MONDO:0011516 biolink:NamedThing early response to neural induction gene tmpak2llvmy_mondo_relaxed.owl Erni|early response to neural induction gene OMIM:605105 owl:Class MONDO:0009147 biolink:NamedThing ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive tmpak2llvmy_mondo_relaxed.owl ECTD10B|ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic DOID:0111665|UMLS:C3887494|OMIM:224900 owl:Class MONDO:0012937 biolink:NamedThing Diamond-Blackfan anemia 6 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia 6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL5|Diamond-Blackfan Anemia type 6|DBA6|Aase-Smith syndrome 2 OMIM:612561 owl:Class CHEBI:51570 biolink:NamedThing biotins Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017012 biolink:NamedThing partial duplication of the short arm of chromosome 1 tmpak2llvmy_mondo_relaxed.owl partial duplication of the short arm of chromosome type 1|partial trisomy of chromosome 1p|partial duplication of chromosome 1p Orphanet:264431 owl:Class HGNC:5992 biolink:NamedThing IL1B tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6246 biolink:NamedThing Strongyloididae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2082224 biolink:NamedThing Strongyloidoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008552 biolink:NamedThing platelet-type bleeding disorder 16 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. tmpak2llvmy_mondo_relaxed.owl autosomal dominant thrombasthenia of Glanzmann and Naegeli|platelet-type bleeding disorder 16|thrombasthenia of Glanzmann and Naegeli, autosomal dominant|Glanzmann thrombasthenia, autosomal dominant|autosomal dominant Glanzmann thrombasthenia|BDPLT16|bleeding disorder, platelet-type, 16 ICD10:D69.4|DOID:0060691|UMLS:C1861195|OMIM:187800|MESH:C566061 owl:Class MONDO:0007385 biolink:NamedThing idiopathic spontaneous coronary artery dissection tmpak2llvmy_mondo_relaxed.owl idiopathic SCAD|coronary artery dissection, spontaneous MESH:C565153|OMIM:122455|ICD10:I25.4|Orphanet:458718|UMLS:C1852540 owl:Class HP:0025085 biolink:NamedThing Bloody diarrhea Passage of many stools containing blood. tmpak2llvmy_mondo_relaxed.owl Bloody diarrhea|Blood in stool|Bloody diarrhoea|Bloody bowel movement|Bloody stool 2016-10-15 13:58:14+00:00 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. HPO:probinson human_phenotype owl:Class NCBITaxon:715340 biolink:NamedThing Pleosporineae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:92860 biolink:NamedThing Pleosporales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:134361|NCBITaxon:371109 ncbi_taxonomy owl:Class GO:1903108 biolink:NamedThing regulation of mitochondrial transcription Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrial transcription|regulation of transcription from mitochondrial promoter owl:Class MONDO:0054636 biolink:NamedThing Skraban-Deardorff syndrome tmpak2llvmy_mondo_relaxed.owl SKDEAS|intellectual disability with seizures, abnormal Gait, and distinctive Facial features|Skraban-Deardorff syndrome UMLS:C4539927|OMIM:617616|Orphanet:513456 owl:Class MONDO:0015255 biolink:NamedThing blepharophimosis-radioulnar synostosis syndrome tmpak2llvmy_mondo_relaxed.owl mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|blepharophimosis radioulnar synostosis|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|Jorgenson Lenz syndrome|Jorgenson-Lenz syndrome Orphanet:1256|ICD10:Q87.2|UMLS:C2931162|MESH:C536292|GARD:0003057 owl:Class MONDO:0025163 biolink:NamedThing white heifer disease A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. tmpak2llvmy_mondo_relaxed.owl disease, White heifer MESH:D050072|SCTID:82642007|UMLS:C0043152 owl:Class HGNC:483 biolink:NamedThing ANG tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:8049 biolink:NamedThing Gadus morhua tmpak2llvmy_mondo_relaxed.owl Atlantic cod GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8048 biolink:NamedThing Gadus tmpak2llvmy_mondo_relaxed.owl Theragra GC_ID:1 NCBITaxon:48549 ncbi_taxonomy owl:Class GO:1902337 biolink:NamedThing regulation of apoptotic process involved in morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development owl:Class CL:0002016 biolink:NamedThing CD71-low, GlyA-positive polychromatic erythroblast A polychromatiic erythroblast that is Gly-A-positive and CD71-low. tmpak2llvmy_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:53:16Z cell owl:Class MONDO:0014415 biolink:NamedThing kallikrein, decreased urinary activity of tmpak2llvmy_mondo_relaxed.owl kallikrein, decreased urinary activity of OMIM:615953|MESH:C563653 owl:Class HGNC:3527 biolink:NamedThing EZH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006272 biolink:NamedThing low grade fibromyxoid sarcoma A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. tmpak2llvmy_mondo_relaxed.owl low-grade fibromyxoid sarcoma|low grade fibromyxoid sarcoma SCTID:404088004|NCIT:C45202|ICD9:171.9|UMLS:C1275282|ONCOTREE:LGFMS|EFO:1000328 owl:Class MONDO:0045015 biolink:NamedThing carbohydrate transport disease A disease that has its basis in the disruption of carbohydrate transport. tmpak2llvmy_mondo_relaxed.owl carbohydrate transport disease|disorder of carbohydrate transport UMLS:C0268173|SCTID:54905006 owl:Class MONDO:0041959 biolink:NamedThing fibrosis of bile duct tmpak2llvmy_mondo_relaxed.owl biliary sclerosis|fibrosis of bile duct|biliary duct fibrosis SCTID:48124008|UMLS:C0520571 owl:Class MONDO:0008287 biolink:NamedThing Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. tmpak2llvmy_mondo_relaxed.owl GCPS|Greig syndrome|polysyndactyly with peculiars skull shape|Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiar skull Shape|Greig's syndrome|Greig cephalosyndactyly syndrome DOID:14761|UMLS:C0265306|GARD:0006550|MedDRA:10053878|MESH:C537300|OMIM:175700|Orphanet:380|ICD10:Q87.0|NCIT:C35255|SCTID:32985001 https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome owl:Class GO:0009144 biolink:NamedThing purine nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine nucleoside triphosphate metabolism owl:Class MONDO:0002754 biolink:NamedThing extramedullary plasmacytoma A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients. tmpak2llvmy_mondo_relaxed.owl extraosseous plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|plasmacytoma, extramedullary|extramedullary plasmacytoma (clinical)|extramedullary plasmacytoma|EP SCTID:188718006|DOID:3720|ICDO:9734/3|NCIT:C4002|ICD10:C90.20|ONCOTREE:EP|ICD9:203.80|UMLS:C0278619|ICD10:C90.2 owl:Class MONDO:0017144 biolink:NamedThing alpha-thalassemia and related diseases tmpak2llvmy_mondo_relaxed.owl Orphanet:275745|ICD10:D56.0|UMLS:CN202570 owl:Class UBERON:0004875 biolink:NamedThing nephrogenic cord A portion of the urogenital ridge which is the source of much of the urinary system[WP]. tmpak2llvmy_mondo_relaxed.owl chorda nephrogenica owl:Class HP:0000478 biolink:NamedThing Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. tmpak2llvmy_mondo_relaxed.owl Eye disease|Abnormal eye|Abnormality of the eye UMLS:C0015393|SNOMEDCT_US:19416009|UMLS:C0015397|SNOMEDCT_US:371409005|MSH:D005128|MSH:D005124|SNOMEDCT_US:371405004 human_phenotype owl:Class GO:0140352 biolink:NamedThing export from cell The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. tmpak2llvmy_mondo_relaxed.owl efflux owl:Class MONDO:0011576 biolink:NamedThing familial hyperaldosteronism type II Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. tmpak2llvmy_mondo_relaxed.owl FH 2|familial hyperaldosteronism type 2|FHII|HALD2|FH-II|familial adrenal adenoma|hyperaldosteronism, familial, type II|FH2 SCTID:703233008|UMLS:C3839212|ICD10:E26.0|OMIM:605635|Orphanet:404|MESH:C565312|GARD:0002789|UMLS:C1854107|NCIT:C127162 owl:Class CL:1000282 biolink:NamedThing smooth muscle fiber of ascending colon A smooth muscle cell that is part of the ascending colon. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of ascending colon FMA:17518 cell owl:Class MONDO:0017068 biolink:NamedThing upper thoracic spina bifida aperta tmpak2llvmy_mondo_relaxed.owl Orphanet:268740|UMLS:CN202428 owl:Class MONDO:0033544 biolink:NamedThing Tolchin-Le Caignec syndrome tmpak2llvmy_mondo_relaxed.owl intellectual developmental disorder With behavioral abnormalities and variable bone defects|TOLCAS|TOLCHIN-LE CAIGNEC SYNDROME OMIM:618971 owl:Class MONDO:0009136 biolink:NamedThing dyskeratosis congenita, autosomal recessive 1 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. tmpak2llvmy_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 1|DKCB|autosomal recessive dyskeratosis congenita 1|autosomal recessive dyskeratosis congenita|dyskeratosis congenita autosomal recessive|dyskeratosis congenita, autosomal recessive type 1|DKCB1 SCTID:707272006|OMIM:224230|GARD:0006300|DOID:0070015|UMLS:C1857144|MESH:C565611 https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive owl:Class MONDO:0017624 biolink:NamedThing familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). tmpak2llvmy_mondo_relaxed.owl Michellis-Castrillo syndrome|FHHNC Orphanet:306516|UMLS:CN203511|GARD:0009891|ICD10:E83.4 https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis owl:Class MONDO:0001895 biolink:NamedThing acute retrobulbar neuritis Acute form of retrobulbar neuritis. tmpak2llvmy_mondo_relaxed.owl retrobulbar neuritis (acute)|retrobulbar neuritis, acute ICD9:377.32|UMLS:C0155301|SCTID:51604006|DOID:14155 owl:Class MONDO:0024335 biolink:NamedThing retrobulbar neuritis tmpak2llvmy_mondo_relaxed.owl SCTID:230507009 owl:Class MONDO:0010223 biolink:NamedThing ichthyosis, X-linked, without steroid sulfatase deficiency tmpak2llvmy_mondo_relaxed.owl ichthyosis, X-linked, without steroid sulfatase deficiency UMLS:C1848387|MESH:C564729|OMIM:300001 owl:Class CHEBI:33700 biolink:NamedThing proteinogenic amino-acid residue tmpak2llvmy_mondo_relaxed.owl standard amino-acid residues|standard amino acid residues|proteinogenic amino-acid residues|common amino acid residues|canonical amino-acid residues|canonical amino-acid residue owl:Class MONDO:0017100 biolink:NamedThing neutropenia-monocytopenia-deafness syndrome Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. tmpak2llvmy_mondo_relaxed.owl ICD10:D82.8|Orphanet:2690|UMLS:CN202458 owl:Class GO:0009166 biolink:NamedThing nucleotide catabolic process The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpak2llvmy_mondo_relaxed.owl nucleotide catabolism|nucleotide breakdown|nucleotide degradation owl:Class MONDO:0009622 biolink:NamedThing Jawad syndrome Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. tmpak2llvmy_mondo_relaxed.owl Jawad syndrome|JWDS|Kelly syndrome|JAWAD syndrome|microcephaly with intellectual disability and digital anomalies|microcephaly with mental retardation and digital anomalies UMLS:C0796063|Orphanet:313795|OMIM:251255 owl:Class NCBITaxon:2732541 biolink:NamedThing Reovirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:18601 biolink:NamedThing RTN4R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012383 biolink:NamedThing primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. tmpak2llvmy_mondo_relaxed.owl natural Killer cell deficiency, familial isolated|NKGCD|mini-chromosome maintenance 4|IMD54|natural KILLER cell and glucocorticoid deficiency with DNA repair defect|primary immunodeficiency due to MCM4 deficiency|immunodeficiency 54 ICD10:D84.8|UMLS:C1864947|Orphanet:75391|OMIM:609981|NCIT:C123729|SCTID:724275005|MESH:C566492 owl:Class NCBITaxon:4069 biolink:NamedThing Solanales tmpak2llvmy_mondo_relaxed.owl Solananae GC_ID:1 NCBITaxon:41936 ncbi_taxonomy owl:Class MONDO:0008874 biolink:NamedThing Bangstad syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. tmpak2llvmy_mondo_relaxed.owl Bangstad syndrome|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency OMIM:210740|ICD9:759.89|ICD10:E31.8|GARD:0000812|SCTID:237614004|Orphanet:1227|MESH:C537902|UMLS:C0342284 https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome owl:Class MONDO:0004728 biolink:NamedThing diabetic macular edema tmpak2llvmy_mondo_relaxed.owl DOID:9191|ICD9:362.07|SCTID:312912001|UMLS:C0730285 owl:Class MONDO:0014994 biolink:NamedThing global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies OMIM:617260|UMLS:C4310644 owl:Class MONDO:0023148 biolink:NamedThing fetal phenothiazine syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002311 https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome owl:Class GO:0098802 biolink:NamedThing plasma membrane signaling receptor complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001766 biolink:NamedThing eversion of lacrimal punctum tmpak2llvmy_mondo_relaxed.owl ICD9:375.51|ICD10:H04.52|SCTID:28244003|DOID:13651|UMLS:C0155243 owl:Class MONDO:0012428 biolink:NamedThing kyphoscoliosis 1 tmpak2llvmy_mondo_relaxed.owl KYPSC1|kyphoscoliosis 1 MESH:C565711|OMIM:610170|UMLS:C1857795 owl:Class MONDO:0001079 biolink:NamedThing pancreatic steatorrhea tmpak2llvmy_mondo_relaxed.owl pancreatic steatorrhoea ICD10:K90.3|SCTID:54576000|UMLS:C0152166|DOID:10610|ICD9:579.4 Editor note: consider obsoleting owl:Class ECTO:9000026 biolink:NamedThing exposure to alcohol An exposure to alcohol. tmpak2llvmy_mondo_relaxed.owl exposure to alcohol owl:Class HGNC:7176 biolink:NamedThing MMP9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008979 biolink:NamedThing chorea, benign familial Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. tmpak2llvmy_mondo_relaxed.owl chorea familial benign|benign hereditary chorea|chorea, benign familial MESH:C565851|OMIM:215450|UMLS:C1859098|GARD:0001305 https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea owl:Class MONDO:0021203 biolink:NamedThing serous otitis media tmpak2llvmy_mondo_relaxed.owl SOM|otitis media with effusion|secretory otitis media SCTID:80327007 owl:Class MONDO:0030330 biolink:NamedThing cardiomyopathy, familial restrictive, 6 tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial restrictive, 6|RCM6 OMIM:619433 owl:Class GO:0048209 biolink:NamedThing regulation of vesicle targeting, to, from or within Golgi Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl regulation of Golgi vesicle targeting owl:Class MONDO:0012385 biolink:NamedThing metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands tmpak2llvmy_mondo_relaxed.owl cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands UMLS:C1864944|OMIM:609989|GARD:0009942|MESH:C537354 https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands owl:Class HP:0012072 biolink:NamedThing Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. tmpak2llvmy_mondo_relaxed.owl Acidic urine SNOMEDCT_US:21806007|UMLS:C0278026 human_phenotype owl:Class HP:0032943 biolink:NamedThing Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. tmpak2llvmy_mondo_relaxed.owl Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. peter human_phenotype owl:Class CHEBI:176843 biolink:NamedThing vitamin B12 Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives). tmpak2llvmy_mondo_relaxed.owl vitamin B12 vitamer|vitamin B12 vitamers|vitamin B12|vitamin B-12|vitamins B12 owl:Class HGNC:9121 biolink:NamedThing PMS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010399 biolink:NamedThing chromosome Xp21 deletion syndrome tmpak2llvmy_mondo_relaxed.owl complex glycerol kinase deficiency|Del(X)(p21)|Xp21 microdeletion syndrome|Complex Glycerol kinase deficiency|chromosome Xp21 deletion syndrome|Xp21 contiguous gene deletion syndrome|Glycerol kinase deficiency-contiguous gene syndrome|monosomy Xp21 ICD10:Q99.8|DOID:0060427|Orphanet:261476|UMLS:C0795887|OMIM:300679|ICD9:277.6|SCTID:297257004 owl:Class GO:0032259 biolink:NamedThing methylation The process in which a methyl group is covalently attached to a molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24861 biolink:NamedThing G6PC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010679 biolink:NamedThing Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. tmpak2llvmy_mondo_relaxed.owl DMD|muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|severe dystrophinopathy, Duchenne type|muscular dystrophy, Duchenne NCIT:C75482|MedDRA:10013801|OMIM:310200|MESH:D020388|Orphanet:98896|GARD:0006291|SCTID:76670001|DOID:11723|ICD10:G71.0|UMLS:C0013264 https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy owl:Class MONDO:0033015 biolink:NamedThing erythrokeratodermia variabilis et progressiva 5 tmpak2llvmy_mondo_relaxed.owl erythrokeratodermia variabilis ET progressiva 5|EKVP5 OMIM:617756|DOID:0080251 owl:Class MONDO:0014931 biolink:NamedThing Alazami-Yuan syndrome tmpak2llvmy_mondo_relaxed.owl Alazami-Yuan syndrome; ALYUS|Alazami-Yuan syndrome|ALYUS OMIM:617126|UMLS:C4310702 owl:Class HP:0011355 biolink:NamedThing Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. tmpak2llvmy_mondo_relaxed.owl Localized skin lesion|Localised skin lesion UMLS:C0850826 peter 2012-03-01T02:37:43Z human_phenotype owl:Class MONDO:0021979 biolink:NamedThing Basaran Yilmaz syndrome A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. tmpak2llvmy_mondo_relaxed.owl keratoderma, hypotrichosis and leukonychia totalis GARD:0000833|UMLS:C2931577|MESH:C537660 https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome owl:Class MONDO:0015039 biolink:NamedThing lissencephaly with cerebellar hypoplasia type F Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl UMLS:C4274989|SCTID:715822007|UMLS:CN228905|ICD10:Q04.3|Orphanet:100016 owl:Class MONDO:0018686 biolink:NamedThing acquired Creutzfeldt-Jakob disease An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired Creutzfeldt Jacob disease|acquired CJD|sporadic CJD Orphanet:454700|MESH:C538481|ICD10:A81.0|UMLS:CN237752 MONDO:0025169 owl:Class MONDO:0019912 biolink:NamedThing maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. tmpak2llvmy_mondo_relaxed.owl UPD(6)mat|maternal uniparental disomy of chromosome type 6 SCTID:766239009|ICD10:Q99.8|Orphanet:96181 owl:Class MONDO:0019022 biolink:NamedThing sensorineural hearing loss-early graying-essential tremor syndrome Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205488|Orphanet:66633 owl:Class MONDO:0006172 biolink:NamedThing conjunctival nevus A benign melanocytic neoplasm that arises from the conjunctiva. tmpak2llvmy_mondo_relaxed.owl conjunctival nevus|Nevus of the conjunctiva|Nevus of conjunctiva DOID:0050906|NCIT:C4551|EFO:1000205|SCTID:255006004|UMLS:C0346363 owl:Class MONDO:0004108 biolink:NamedThing diaphragma sellae meningioma A meningioma that affects the diaphragma sellae. tmpak2llvmy_mondo_relaxed.owl diaphragma sellae meningioma (disease)|meningioma of the Diaphragma sellae|meningioma of diaphragm sellae|meningioma of the diaphragm sellae|meningioma (disease) of diaphragma sellae|diaphragm sellae meningioma|meningioma of Diaphragma sellae NCIT:C5283|DOID:7103|UMLS:C1333283 owl:Class CL:2000041 biolink:NamedThing dermis microvascular lymphatic vessel endothelial cell Any dermis lymphatic vessel endothelial cell that is part of a microvascular endothelium. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:09:54Z cell owl:Class MONDO:0014281 biolink:NamedThing cholangiocarcinoma, susceptibility to tmpak2llvmy_mondo_relaxed.owl Chlc, susceptibility to|cholangiocarcinoma, susceptibility to OMIM:615619 owl:Class MONDO:0019957 biolink:NamedThing PPoma PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). tmpak2llvmy_mondo_relaxed.owl pancreatic polypeptide tumor|pancreatic polypeptide neoplasm|pancreatic polypeptidoma UMLS:C1882278|UMLS:C0346407|Orphanet:97278|ICD9:239.89|UMLS:CN206879|ICDO:8152/1|ICD10:E16.8|NCIT:C67453|SCTID:255039001 owl:Class MONDO:0019954 biolink:NamedThing pancreatic neuroendocrine tumor Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). tmpak2llvmy_mondo_relaxed.owl islet cell tumors - pancreas|pancreatic neuroendocrine tumor|well-differentiated NEN of pancreas|PANET|well-differentiated pancreatic NEN|pancreatic endocrine tumor|well-differentiated pancreatic neuroendocrine neoplasm|islet cell tumor|islet cell tumors of the pancreas|pancreatic NET|well-differentiated neuroendocrine neoplasm of pancreas|well differentiated pancreatic endocrine neoplasm|neuroendocrine tumor of pancreas|well differentiated pancreatic endocrine tumor NCIT:C27720|Orphanet:97253|ICD10:E16.8|EFO:1000045|ONCOTREE:PANET|GARD:0013034|ICDO:8150/1 owl:Class MONDO:0010166 biolink:NamedThing ulnar agenesis and endocardial fibroelastosis tmpak2llvmy_mondo_relaxed.owl ulnar agenesis and endocardial fibroelastosis UMLS:C1848649|OMIM:276822|MESH:C564756 owl:Class MONDO:0010443 biolink:NamedThing macular degeneration, X-linked atrophic tmpak2llvmy_mondo_relaxed.owl macular degeneration, X-linked atrophic OMIM:300834|UMLS:C3151784 owl:Class HGNC:3819 biolink:NamedThing FOXO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011977 biolink:NamedThing 8q22.1 microdeletion syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. tmpak2llvmy_mondo_relaxed.owl monosomy 8q22.1|NABLUS mask-like facial syndrome|NMLFS|Nablus mask-like facial syndrome|chromosome 8Q22.1 deletion syndrome ICD10:Q93.5|Orphanet:178303|SCTID:719664004|MESH:C536110|UMLS:C1842464|OMIM:608156|GARD:0004722 owl:Class UBERON:0019206 biolink:NamedThing tongue papilla epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7167 biolink:NamedThing MMP20 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000963 biolink:NamedThing mitochondrial RNA processing The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140053 biolink:NamedThing mitochondrial gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p21 biolink:NamedThing chr1p21 (Human) tmpak2llvmy_mondo_relaxed.owl 106700000 94300000 hg38 owl:Class MONDO:0019104 biolink:NamedThing Sandifer syndrome Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. tmpak2llvmy_mondo_relaxed.owl Sandifer's syndrome UMLS:C0338465|MedDRA:10066142|Orphanet:71272|GARD:0009684|NCIT:C113397|MESH:C537234|SCTID:230314007 https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome owl:Class GO:0050996 biolink:NamedThing positive regulation of lipid catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpak2llvmy_mondo_relaxed.owl stimulation of lipid catabolic process|positive regulation of lipid catabolism|positive regulation of lipid breakdown|upregulation of lipid catabolic process|activation of lipid catabolic process|positive regulation of lipid degradation|up-regulation of lipid catabolic process|up regulation of lipid catabolic process owl:Class UBERON:0004773 biolink:NamedThing superior eyelid tarsus An eyelid tarsus that is part of a upper eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tarsus of upper eyelid|tarsal plate of upper eyelid|tarsus superior|superior tarsal plate|superior tarsus|superior tarsus of eyelid owl:Class MONDO:0009443 biolink:NamedThing autosomal recessive congenital ichthyosis 4B Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. tmpak2llvmy_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive type 4B|harlequin ichthyosis|harlequin type ichthyosis fetalis|ichthyosis, congenital, autosomal recessive 4B|ARCI4B|autosomal recessive congenital ichthyosis type 4B|harlequin type ichthyosis congenita|'Harlequin fetus'|ichthyosis fetalis, Harlequin type|ichthyosis congenita, Harlequin fetus type|hi|Harlequin fetus|ichthyosis congenita, Harlequin type MedDRA:10019163|DOID:0060713|NCIT:C98934|ICD10:Q80.4|SCTID:205548006|OMIM:242500|GARD:0006568|UMLS:C0239849|Orphanet:457 owl:Class MONDO:0011026 biolink:NamedThing autosomal recessive congenital ichthyosis 4A Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. tmpak2llvmy_mondo_relaxed.owl lamellar ichthyosis 2|ichthyosis, congenital, autosomal recessive 4A|ARCI4A|ichthyosis, lamellar, 2, formerly|ichthyosis lamellar 2|ichthyosis congenita 2B|ichthyosis congenita IIB|lamellar ichthyosis, type 2|autosomal recessive congenital ichthyosis type 4A|ichthyosis, lamellar, 2|LI2|ICR2B|ichthyosis, congenital, autosomal recessive type 4A OMIM:601277|ICD10:Q80.2|DOID:0060712|GARD:0009733|MESH:C537264 owl:Class GO:0051494 biolink:NamedThing negative regulation of cytoskeleton organization Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpak2llvmy_mondo_relaxed.owl negative regulation of cytoskeleton organisation|down-regulation of cytoskeleton organization|negative regulation of cytoskeleton organization and biogenesis|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization|down regulation of cytoskeleton organization owl:Class MONDO:0002685 biolink:NamedThing childhood choroid plexus carcinoma A choroid plexus carcinoma that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl childhood choroid plexus neoplasm|childhood choroid plexus carcinoma|choroid plexus carcinoma of childhood|pediatric choroid plexus carcinoma|childhood choroid plexus cancer DOID:3545|UMLS:C0280623|NCIT:C124292 owl:Class MONDO:0042485 biolink:NamedThing infective arthritis The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpak2llvmy_mondo_relaxed.owl septic arthritis|infective arthritis NCIT:C26700|GARD:0006781 owl:Class MONDO:0007107 biolink:NamedThing anal sphincter myopathy, internal tmpak2llvmy_mondo_relaxed.owl anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy UMLS:C1862935|MESH:C566287|OMIM:105565 owl:Class MONDO:0011020 biolink:NamedThing osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl OOCHS|osteoporosis oculocutaneous hypopigmentation syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome|OOCH syndrome|Hernández-Fragoso syndrome|OOCH OMIM:601220|Orphanet:2786|SCTID:722113001|MESH:C536062|UMLS:C1832592|GARD:0000404 https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome owl:Class MONDO:0007549 biolink:NamedThing generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa dystrophica, autosomal dominant|Albopapuloid dominant dystrophic epidermolysis bullosa|DDEB|epidermolysis bullosa dystrophica with subcorneal Cleavage|epidermolysis bullosa dystrophica, Pasini type|dystrophic epidermolysis bullosa, autosomal dominant|DDEB, generalized|DDEB, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|epidermolysis bullosa dystrophica, Cockayne-Touraine type|DDEB-gen|dominant dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, Pasini type (formerly)|dominant dystrophic epidermolysis bullosa, generalized|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|autosomal dominant dystrophic epidermolysis bullosa ICD10:Q81.2|GARD:0002139|ICD9:757.39|SCTID:75875004|Orphanet:231568|DOID:0080224|OMIM:131750 owl:Class MONDO:0006543 biolink:NamedThing epidermolysis bullosa dystrophica A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. tmpak2llvmy_mondo_relaxed.owl ICD10:Q81.2|EFO:1000692|ICD9:757.39|DOID:4959|SCTID:254185007|NCIT:C84691|Wikipedia:Epidermolysis_bullosa_dystrophica|MESH:D016108 owl:Class FOODON:00001180 biolink:NamedThing prepared food product Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. tmpak2llvmy_mondo_relaxed.owl prepared owl:Class HP:0010980 biolink:NamedThing Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. tmpak2llvmy_mondo_relaxed.owl UMLS:C0020476|SNOMEDCT_US:3744001|MSH:D006951 peter 2011-02-07T10:56:30Z human_phenotype owl:Class MONDO:0016730 biolink:NamedThing gangliocytoma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells. tmpak2llvmy_mondo_relaxed.owl GNC DOID:2426|ICDO:9492/0|GARD:0010638|Orphanet:251937|ONCOTREE:GNC|NCIT:C6934|UMLS:CN201978|ICD10:D36.1|MESH:D005729 https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma owl:Class MONDO:0017018 biolink:NamedThing isolated pulmonary capillaritis Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. tmpak2llvmy_mondo_relaxed.owl SCTID:707436001|UMLS:C3873357|Orphanet:264691|ICD9:448.9 owl:Class NCBITaxon:740973 biolink:NamedThing Dientamoebidae tmpak2llvmy_mondo_relaxed.owl Protrichomonadinae GC_ID:1 NCBITaxon:135586 ncbi_taxonomy owl:Class CHEBI:25388 biolink:NamedThing monohydroxybenzoate A hydroxybenzoate carrying a single hydroxy substituent at unspecified position. tmpak2llvmy_mondo_relaxed.owl monohydroxybenzoates owl:Class UBERON:0011112 biolink:NamedThing tibiofibular joint A joint that connects the tibia and the fibula. tmpak2llvmy_mondo_relaxed.owl fibulatibial joint|tibiafibular joint|fibulotibial joint owl:Class MONDO:0044739 biolink:NamedThing Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome tmpak2llvmy_mondo_relaxed.owl Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome ICD10:L51.8|Orphanet:506784 owl:Class MONDO:0033853 biolink:NamedThing congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:521432 owl:Class MONDO:0020444 biolink:NamedThing subaortic course of innominate vein Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. tmpak2llvmy_mondo_relaxed.owl subaortic course of brachiocephalic vein SCTID:766756002|Orphanet:99113|ICD10:Q26.8 owl:Class MONDO:0017708 biolink:NamedThing mevalonate kinase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:309025|MedDRA:10072221 owl:Class HGNC:17019 biolink:NamedThing PRICKLE1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002835 biolink:NamedThing Aspiration Inspiration of a foreign object into the airway. tmpak2llvmy_mondo_relaxed.owl Pulmonary aspiration UMLS:C2712334|UMLS:C0700198|SNOMEDCT_US:413585005|SNOMEDCT_US:68052005 human_phenotype owl:Class HP:0002795 biolink:NamedThing Abnormal respiratory system physiology tmpak2llvmy_mondo_relaxed.owl Respiratory problem|Functional respiratory abnormality|Abnormal respiration UMLS:C4025677|Fyler:4200 human_phenotype owl:Class MONDO:0017906 biolink:NamedThing amyloidosis cutis dyschromia Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. tmpak2llvmy_mondo_relaxed.owl amyloidosis cutis dyschromica ICD10:E85.4+|Orphanet:319635|ICD10:L99.0* owl:Class MONDO:0007298 biolink:NamedThing spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. tmpak2llvmy_mondo_relaxed.owl ACV|aplasia of cerebellar vermis|cerebellar ataxia, congenital nonprogressive, autosomal dominant|cerebellar ataxia early-onset nonprogressive|spinocerebellar ataxia 29|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|SCA29|spinocerebellar ataxia type 29 ICD10:G11.0|SCTID:715825009|UMLS:C1861732|UMLS:C4274987|OMIM:117360|GARD:0010480|Orphanet:208513|DOID:0050978|MESH:C537206 owl:Class UBERON:0009602 biolink:NamedThing left lung associated mesenchyme Mesenchyme that is part of a developing left lung. tmpak2llvmy_mondo_relaxed.owl left lung mesenchyme owl:Class MONDO:0017243 biolink:NamedThing bullous diffuse cutaneous mastocytosis Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. tmpak2llvmy_mondo_relaxed.owl bullous DCM ICD10:Q82.2|Orphanet:280785 owl:Class UBERON:0015155 biolink:NamedThing conjunctival space A anatomical space that is enclosed by a conjunctiva. tmpak2llvmy_mondo_relaxed.owl cavity of conjunctival sac|subconjunctival space|subbrillar space|conjunctival sac cavity owl:Class MONDO:0019160 biolink:NamedThing primary progressive freezing gait Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. tmpak2llvmy_mondo_relaxed.owl PPFG Orphanet:75567|SCTID:715627004|UMLS:C4275078|UMLS:CN205712 owl:Class MONDO:0010883 biolink:NamedThing pectus excavatum-macrocephaly-dysplastic nails syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl pectus excavatum, macrocephaly, short stature, and dysplastic nails|pectus excavatum, macrocephaly and dysplastic nails|Zori-Stalker-Williams syndrome|familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Zori Stalker Williams syndrome UMLS:C2931302|MESH:C536728|Orphanet:2835|GARD:0000374|OMIM:600399|SCTID:763863002 owl:Class HGNC:1343 biolink:NamedThing TRAF3IP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17110 biolink:NamedThing ADAMTS18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004498 biolink:NamedThing sacral spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the sacral region of the spinal cord. tmpak2llvmy_mondo_relaxed.owl sacral intraspinal meningioma|meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord DOID:8203|UMLS:C1335893|NCIT:C5299 owl:Class GO:0007548 biolink:NamedThing sex differentiation The establishment of the sex of an organism by physical differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020530 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpak2llvmy_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|IFNGR1 deficiency|MSMD due to complete IFNgammaR1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|interferon gamma, receptor 1, deficiency MESH:C535530|Orphanet:99898|GARD:0003011|UMLS:C2930924|ICD10:D84.8 owl:Class HGNC:2895 biolink:NamedThing EDAR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004204 biolink:NamedThing squamous cell skin papilloma A squamous papilloma that involves the zone of skin. tmpak2llvmy_mondo_relaxed.owl squamous cell papilloma of the skin|hyperkeratotic papilloma of skin|parakeratotic skin papilloma|hyperkeratotic skin papilloma|Dyskeratotic skin papilloma|squamous cell skin papilloma|Dyskeratotic papilloma of skin|Dyskeratotic papilloma of the skin|parakeratotic papilloma of the skin|hyperkeratotic papilloma of the skin|parakeratotic papilloma of skin|squamous cell papilloma of skin|zone of skin squamous papilloma SCTID:254661000|NCIT:C4462|UMLS:C0345983|DOID:7380 owl:Class MONDO:0013887 biolink:NamedThing heterotaxy, visceral, 6, autosomal tmpak2llvmy_mondo_relaxed.owl HTX6|heterotaxy, visceral, 6, autosomal UMLS:C3553676|OMIM:614779 owl:Class MONDO:0015796 biolink:NamedThing acute lung injury A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). tmpak2llvmy_mondo_relaxed.owl NCIT:C155766|Orphanet:178320|MESH:D055371|MedDRA:10069351|EFO:0004610|SCTID:315345002 owl:Class MONDO:0032752 biolink:NamedThing developmental and epileptic encephalopathy, 75 tmpak2llvmy_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75|DEE75|EIEE75|epileptic encephalopathy, early infantile, 75 OMIM:618437 owl:Class UBERON:0036328 biolink:NamedThing wall of coronary artery tmpak2llvmy_mondo_relaxed.owl coronary arterial wall owl:Class MONDO:0014616 biolink:NamedThing Skint1-like pseudogene tmpak2llvmy_mondo_relaxed.owl SKINT1-like pseudogene|Skint1L|SKINTL|Skint1-like pseudogene|Skintp OMIM:616392 owl:Class FOODON:03411433 biolink:NamedThing shellfish The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003650 biolink:NamedThing mixed hepatoblastoma A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. tmpak2llvmy_mondo_relaxed.owl mixed epithelial and mesenchymal hepatoblastoma DOID:5789|NCIT:C7097|UMLS:C1334784|ICDO:8970/3 owl:Class GO:0008219 biolink:NamedThing cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). tmpak2llvmy_mondo_relaxed.owl necrosis|accidental cell death owl:Class HGNC:29144 biolink:NamedThing EHBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025385 biolink:NamedThing bluetongue A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. tmpak2llvmy_mondo_relaxed.owl tongue, blue|blue tongue UMLS:C0005866|MESH:D001819 owl:Class MONDO:0013100 biolink:NamedThing atrial fibrillation, familial, 8 tmpak2llvmy_mondo_relaxed.owl ATFB8|atrial fibrillation, familial, 8 MESH:C567802|UMLS:C2751607|OMIM:613055 owl:Class MONDO:0011845 biolink:NamedThing migraine with or without aura, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 3|migraine with or without aura, susceptibility to, 3|MGR3 OMIM:607498 owl:Class MONDO:0013364 biolink:NamedThing Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. tmpak2llvmy_mondo_relaxed.owl EP300 Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|RSTS2|Rubinstein-Taybi syndrome caused by mutation in EP300|Rubinstein-Taybi syndrome type 2|Rubinstein-Taybi syndrome 2 ICD10:Q87.2|OMIM:613684|Orphanet:353284|UMLS:C3150941|NCIT:C153291 owl:Class MONDO:0012650 biolink:NamedThing Cernunnos-XLF deficiency Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. tmpak2llvmy_mondo_relaxed.owl Nhej1 syndrome|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|Cernunnos deficiency|NHEJ1 deficiency|Cernunnos XLFD|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos-XLF deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency MESH:C566970|SCTID:720853005|UMLS:C1969799|ICD10:D81.1|OMIM:611291|Orphanet:169079 owl:Class HGNC:9402 biolink:NamedThing PRKCG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010989 biolink:NamedThing Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. tmpak2llvmy_mondo_relaxed.owl MRKH syndrome type 2|atypical MRKH syndrome|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MRKH, type 2|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|MURCS|MURCS association|Klippel-Feil deformity, conductive deafness, and absent vagina|Mayer-Rokitansky-Küster-Hauser syndrome type 2|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome ICD10:Q87.8|Orphanet:2578|GARD:0005513|SCTID:717705004|OMIM:601076 owl:Class MONDO:0044884 biolink:NamedThing tonsillar lymphoma A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl lymphoma of the tonsil|tonsil lymphoma|tonsillar lymphoma|lymphoma of tonsil|Primary tonsillar lymphoma UMLS:C1336765|NCIT:C5918 owl:Class GO:0042489 biolink:NamedThing negative regulation of odontogenesis of dentin-containing tooth Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. tmpak2llvmy_mondo_relaxed.owl negative regulation of odontogenesis of dentine-containing tooth|negative regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing teeth|down-regulation of odontogenesis|downregulation of odontogenesis|inhibition of odontogenesis owl:Class MONDO:0013241 biolink:NamedThing spinocerebellar ataxia type 30 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 30|spinocerebellar ataxia type 30|SCA30 SCTID:719253007|GARD:0004950|MESH:C575214|OMIM:613371|ICD10:G11.2|Orphanet:211017|UMLS:C4304845|DOID:0050979|UMLS:C2936793 owl:Class MONDO:0010266 biolink:NamedThing intellectual disability, X-linked 58 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 58|MRX58|TSPAN7 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7|mental retardation, X-linked type 58|intellectual disability, X-linked type 58|intellectual disability, X-linked 58 UMLS:C1846174|OMIM:300210|MESH:C564566 owl:Class MONDO:0020707 biolink:NamedThing central hearing loss Hearing loss resulting from disorders of the central nervous system auditory pathways. tmpak2llvmy_mondo_relaxed.owl central hearing loss NCIT:C34662 owl:Class MONDO:0003065 biolink:NamedThing nasal cavity inverting papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl nasal cavity inverted papilloma|inverting papilloma of nasal cavity|nasal cavity Schneiderian papilloma, inverted type|inverting papilloma of the nasal cavity NCIT:C8194|DOID:4633|UMLS:C0280336 owl:Class MONDO:0008567 biolink:NamedThing thyroid cancer, nonmedullary, 1 tmpak2llvmy_mondo_relaxed.owl nonmedullary thyroid carcinoma, papillary|NMTC1|papillary carcinoma of thyroid|thyroid cancer, nonmedullary, 1|thyroid cancer, nonmedullary, type 1|familial nonmedullary thyroid cancer, papillary OMIM:188550 owl:Class MONDO:0017445 biolink:NamedThing acheiria tmpak2llvmy_mondo_relaxed.owl congenital absence of hand Orphanet:294983|ICD10:Q71.3|SCTID:371199008 owl:Class MONDO:0023272 biolink:NamedThing goniodysgenesis intellectual disability short stature tmpak2llvmy_mondo_relaxed.owl GARD:0002545 https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature owl:Class MONDO:0033559 biolink:NamedThing intellectual developmental disorder with seizures and language delay tmpak2llvmy_mondo_relaxed.owl IDDSELD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY OMIM:619000 owl:Class MONDO:0016781 biolink:NamedThing maternal 14q32.2 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl maternal del(14)(q32.2)|maternal monosomy 14q32.2 UMLS:CN202037|Orphanet:254528|ICD10:Q93.5 owl:Class MONDO:0014148 biolink:NamedThing estrogen resistance syndrome Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. tmpak2llvmy_mondo_relaxed.owl ESTRR|estrogen insensitivity|estrogen resistance Orphanet:785|UMLS:C3809250|SCTID:724555000|OMIM:615363|EFO:0009042 owl:Class MONDO:0006516 biolink:NamedThing sarcopenia Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. tmpak2llvmy_mondo_relaxed.owl EFO:1000653|ICD10:M62.84|UMLS:C0872084|MedDRA:10063024|MESH:D055948 owl:Class MONDO:0007547 biolink:NamedThing epidermoid cysts The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. tmpak2llvmy_mondo_relaxed.owl inclusion cyst|epidermoid cysts|infundibular cyst|keratinous cyst|epidermal inclusion cyst|Epidermal cyst|epidermoid cyst|keratinizing cyst|keratin cyst|horn cyst|epithelial cyst|squamous cyst|Follicular infundibular cyst NCIT:C3134|OMIM:131600|SCTID:419893006|EFO:1000243 owl:Class MONDO:0001788 biolink:NamedThing nutmeg liver tmpak2llvmy_mondo_relaxed.owl chronic passive congestion of liver ICD9:573.0|SCTID:34736002|UMLS:C0156195|DOID:13739|ICD10:K76.1 owl:Class HGNC:24650 biolink:NamedThing EHMT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009653 biolink:NamedThing mucolipidosis type IV Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. tmpak2llvmy_mondo_relaxed.owl Berman syndrome|MLIV|ganglioside sialidase deficiency|sialolipidosis|mucolipidosis IV|ML4|mucolipidosis type 4|ML IV|ML 4|mucolipidosis 4|mucolipidosis type IV|ganglioside neuraminidase deficiency GARD:0000094|UMLS:C0238286|DOID:0080490|SCTID:111384001|NCIT:C84896|GTR:AN1125033|ICD10:E75.1|Orphanet:578|GTR:AN1125032|GTR:AN1148743|UMLS:CN716584|GTR:AN1124590|OMIM:252650 owl:Class MONDO:0016854 biolink:NamedThing 49,XXXYY syndrome 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl 49, XXXYY syndrome|XXXYY syndrome Orphanet:261534|ICD10:Q98.8|GARD:0010922|UMLS:CN202197 https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome owl:Class MONDO:0017006 biolink:NamedThing X and Y chromosomal anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:263749|ICD10:Q98.8 owl:Class CHEBI:33287 biolink:NamedThing fertilizer A fertilizer is any substance that is added to soil or water to assist the growth of plants. tmpak2llvmy_mondo_relaxed.owl fertilizers|fertiliser owl:Class NCBITaxon:6269 biolink:NamedThing Anisakis simplex tmpak2llvmy_mondo_relaxed.owl herring worm GC_ID:1 ncbi_taxonomy owl:Class HGNC:174 biolink:NamedThing ACVR2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025159 biolink:NamedThing pneumonia of swine, mycoplasmal A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection. tmpak2llvmy_mondo_relaxed.owl pneumonia of swine, enzootic|enzootic pneumonia of swine|swine Mycoplasmal pneumonia|Mycoplasmal pneumonia of swine|Mycoplasma pneumonia of pigs|swine Mycoplasma pneumonia|swine enzootic pneumonia|enzootic pneumonia of pigs|Mycoplasma pneumonia of swine UMLS:C1258090|MESH:D045729 owl:Class MONDO:0033565 biolink:NamedThing oocyte maturation defect 9 tmpak2llvmy_mondo_relaxed.owl OOMD9|OOCYTE MATURATION DEFECT 9 OMIM:619011 owl:Class MONDO:0016198 biolink:NamedThing qualitative or quantitative defects of plectin tmpak2llvmy_mondo_relaxed.owl Orphanet:209196 owl:Class MONDO:0002703 biolink:NamedThing appendix mucinous cystadenocarcinoma An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. tmpak2llvmy_mondo_relaxed.owl appendix colloid cystadenocarcinoma|vermiform appendix mucinous cystadenocarcinoma|appendiceal mucinous cystadenocarcinoma|colloid cystadenocarcinoma of the appendix|appendiceal colloidal cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|appendix colloidal cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|appendix mucinous cystadenocarcinoma|colloidal cystadenocarcinoma of appendix|colloidal cystadenocarcinoma of the appendix DOID:3607|UMLS:C1096639|NCIT:C5511 owl:Class MONDO:0011270 biolink:NamedThing prostate cancer, hereditary, 8 tmpak2llvmy_mondo_relaxed.owl predisposing for prostate cancer|prostate cancer, hereditary, type 8|HPC8|prostate cancer, hereditary, 8 OMIM:602759|MESH:C566426|UMLS:C1864472 owl:Class MONDO:0001786 biolink:NamedThing uterine inflammatory disease tmpak2llvmy_mondo_relaxed.owl inflammatory disease of the uterus ICD10:N71.9|SCTID:28783002|UMLS:C0269047|ICD9:615.9|DOID:13736 owl:Class CHEBI:33833 biolink:NamedThing heteroarene A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). tmpak2llvmy_mondo_relaxed.owl hetarenes|heteroarenes owl:Class MONDO:0021337 biolink:NamedThing tonsil carcinoma A carcinoma that involves the tonsil. tmpak2llvmy_mondo_relaxed.owl cancer of tonsil|tonsillar cancer|cancer of the tonsil|carcinoma of tonsil|tonsil cancer|carcinoma of the tonsil|tonsillar carcinoma|tonsil carcinoma UMLS:C0558355|SCTID:274085008|NCIT:C4825 owl:Class GO:0060548 biolink:NamedThing negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29478 biolink:NamedThing ROGDI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002268 biolink:NamedThing dyspepsia An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. tmpak2llvmy_mondo_relaxed.owl indigestion|dyspepsia, indigestion MESH:D004415|NCIT:C26756|ICD10:R10.13|DOID:2321|EFO:0008533|ICD10:K30 owl:Class MONDO:0003352 biolink:NamedThing colon sarcoma A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of the colon|colon sarcoma|sarcoma of colon|colonic sarcoma DOID:5260|NCIT:C5495|UMLS:C1333098 owl:Class MONDO:0001743 biolink:NamedThing paranasal sinus lymphoma A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. tmpak2llvmy_mondo_relaxed.owl primary paranasal sinus lymphoma|lymphoma of accessory sinus|accessory sinus lymphoma|paranasal sinus lymphoma|lymphoma of the accessory sinus|lymphoma of paranasal sinus|lymphoma of the paranasal sinus NCIT:C6068|DOID:1355|UMLS:C1335339 owl:Class UBERON:0004666 biolink:NamedThing interventricular septum membranous part The membranous portion of the wall between the two lower chambers of the heart tmpak2llvmy_mondo_relaxed.owl pars membranacea septi interventricularis|ventricle membranous septum|cardiac ventricular membranous septum|membranous interventricular septum|membranous septum|membranous portion of interventricular septum|membranous part of interventricular septum|membranous part interventricular septum|pars membranacea (septi interventricularis)|ventricular membranous septum owl:Class MONDO:0011353 biolink:NamedThing atrial septal defect, secundum, with various cardiac and Noncardiac defects tmpak2llvmy_mondo_relaxed.owl atrial septal defect, secundum, with various cardiac and Noncardiac defects MESH:C566351|OMIM:603642|UMLS:C1863648 owl:Class MONDO:0012785 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 3 tmpak2llvmy_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic, 3|IHPS3 MESH:C567435|OMIM:612017|UMLS:C2677588 owl:Class NCBITaxon:6951 biolink:NamedThing Astigmata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:41441|NCBITaxon:41440|NCBITaxon:41437 ncbi_taxonomy owl:Class NCBITaxon:83137 biolink:NamedThing Sarcoptiformes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014720 biolink:NamedThing interlobar duct A duct that is located between lobes, within conspicuous, thick connective tissue septa that separate lobes. All interlobar ducts are excretory. tmpak2llvmy_mondo_relaxed.owl intralobular ductule owl:Class MONDO:0008035 biolink:NamedThing muscular hypoplasia, congenital universal, of Krabbe tmpak2llvmy_mondo_relaxed.owl muscular hypoplasia, congenital universal, of Krabbe MESH:C563553|OMIM:159100|UMLS:C1834651 owl:Class UBERON:0015420 biolink:NamedThing ureteral valve A valve that is part of a ureter. tmpak2llvmy_mondo_relaxed.owl valve or ureter|ureteral valve owl:Class UBERON:0011282 biolink:NamedThing nail of pedal digit 5 A nail that is part of a pedal digit 5. tmpak2llvmy_mondo_relaxed.owl nail of fifth toe|nail of pedal digit V|claw of digit 5 of hind-paw|little toe nail|nail plate of little toe|nail of little toe owl:Class UBERON:0009567 biolink:NamedThing nail of pedal digit A nail that is part of a pedal digit. tmpak2llvmy_mondo_relaxed.owl hindlimb claw|toe nail|hindlimb digit claw|claw of foot|nail of toe|claw of pes|nail of pes|claw of toe|pedal claw|toenail|nail plate of toe owl:Class CHEBI:76823 biolink:NamedThing EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). tmpak2llvmy_mondo_relaxed.owl acid-ammonia (or amine) ligase inhibitor|EC 6.3.1.* inhibitors|EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor owl:Class MONDO:0001616 biolink:NamedThing lobomycosis A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. tmpak2llvmy_mondo_relaxed.owl infection by Loboa loboi|cutaneous blastomycosis|cutaneous lobomycosis UMLS:C0152066|SCTID:47306003|ICD9:116.2|ICD10:B48.0|MESH:D060368|EFO:1001805|DOID:13026 owl:Class MONDO:0002040 biolink:NamedThing dermatomycosis Superficial infections of the skin or its appendages by any of various fungi. tmpak2llvmy_mondo_relaxed.owl UMLS:C0011630|ICD9:111|MESH:D003881|DOID:1563|ICD9:111.9 owl:Class HP:0000153 biolink:NamedThing Abnormality of the mouth An abnormality of the mouth. tmpak2llvmy_mondo_relaxed.owl Abnormality of the mouth|Abnormal mouth SNOMEDCT_US:128334002|UMLS:C0026633|MSH:D009056 human_phenotype owl:Class MONDO:0009052 biolink:NamedThing cutis laxa, autosomal recessive, type 1A An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. tmpak2llvmy_mondo_relaxed.owl cutis laxa, autosomal recessive, type IA|ARCL1A|ARCL1|cutis laxa, autosomal recessive|autosomal recessive cutis laxa type IA UMLS:CN033664|DOID:0070135|SCTID:59451000|OMIM:219100|ICD10:Q82.8|MESH:C562628 owl:Class GO:0045839 biolink:NamedThing negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. tmpak2llvmy_mondo_relaxed.owl inhibition of mitosis|down-regulation of mitosis|downregulation of mitosis|down regulation of mitosis|negative regulation of mitosis owl:Class MONDO:0044634 biolink:NamedThing retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome UMLS:C4540367|Orphanet:494439|OMIM:617763 owl:Class MONDO:0009180 biolink:NamedThing junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa, generalized atrophic benign|JEB-I|junctional epidermolysis bullosa inversa|JEB-nH|epidermolysis bullosa Junctionalis, non-Herlitz type|epidermolysis bullosa Junctionalis, progressive|JEN-nH|epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa Junctionalis, severe Nonlethal|epidermolysis bullosa, junctional, non-Herlitz type|epidermolysis bullosa, junctional, Localisata variant ICD9:757.39|OMIM:226650|SCTID:33662006|Orphanet:89840|ICD10:Q81.8|GARD:0002151 owl:Class MONDO:0020230 biolink:NamedThing renal disease with cataract tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:98646|UMLS:CN207058 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: kidney disease' MONDO_0005240 owl:Class UBERON:0002008 biolink:NamedThing cardiac nerve plexus A plexus of nerves situated at the base of the heart that innervate the heart. tmpak2llvmy_mondo_relaxed.owl heart autonomic nerve plexus|autonomic plexus of heart|heart autonomic plexus|autonomic nerve plexus of heart|plexus cardiacus|cardiac plexus owl:Class MONDO:0018034 biolink:NamedThing thalidomide embryopathy A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. tmpak2llvmy_mondo_relaxed.owl fetal thalidomide syndrome|thalidomide-induced birth defect|thalidomide embryopathy syndrome NCIT:C99082|ICD9:759.89|SCTID:36193003|GARD:0002313|ICD10:Q86.8|Orphanet:3312|MedDRA:10071249|UMLS:C0432365 owl:Class CL:1000271 biolink:NamedThing lung ciliated cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020472 biolink:NamedThing Turner syndrome due to structural X chromosome anomalies tmpak2llvmy_mondo_relaxed.owl UMLS:CN207336|ICD10:Q96.1|Orphanet:99413|ICD10:Q96.2 owl:Class HP:0003418 biolink:NamedThing Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. tmpak2llvmy_mondo_relaxed.owl Back pain SNOMEDCT_US:161891005|UMLS:C0004604|MSH:D001416 human_phenotype owl:Class HP:0000925 biolink:NamedThing Abnormality of the vertebral column Any abnormality of the vertebral column. tmpak2llvmy_mondo_relaxed.owl Abnormality of the vertebral column|Abnormal vertebral column|Abnormality of the spine|Abnormality of the backbone|Abnormal spine UMLS:C4020882|UMLS:C4021789 human_phenotype owl:Class MONDO:0005460 biolink:NamedThing swine influenza An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. tmpak2llvmy_mondo_relaxed.owl H1N1 Influenza|Swine influenza virus influenza|Influenza A (H1N1)|Swine influenza virus caused influenza|Influenza A (H1N1) Virus infection|H1N1 flu|swine flu|H1N1 Virus infection DOID:0050211|SCTID:442696006|NCIT:C80444|EFO:0005226 owl:Class MONDO:0100125 biolink:NamedThing hallucinogen-persisting perception disorder A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses. tmpak2llvmy_mondo_relaxed.owl hallucinogen abuse with hallucinogen persisting perception disorder ICD10:F16.183 owl:Class HP:0002970 biolink:NamedThing Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. tmpak2llvmy_mondo_relaxed.owl Genua vara|Outward bowing at knees|Genu vara|Outward bow-leggedness MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 HP:0003052 human_phenotype owl:Class MONDO:0010102 biolink:NamedThing taurodontia-absent teeth-sparse hair syndrome This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. tmpak2llvmy_mondo_relaxed.owl teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, sparse hair syndrome|taurodontia, absent teeth, and sparse hair OMIM:272980|Orphanet:2731|UMLS:C1848909|MESH:C536945|GARD:0005118 https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome owl:Class MONDO:0011362 biolink:NamedThing myopathy, myofibrillar, 9, with early respiratory failure tmpak2llvmy_mondo_relaxed.owl myofibrillar myopathy with early respiratory failure|myopathy, proximal, with early respiratory muscle involvement|distal myopathy with early respiratory muscle involvement|hereditary inclusion body myopathy with early respiratory failure|HIBM-ERF|Edström myopathy|HMERF-ERF|Edstrom myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|ADMERF|HMERF|hereditary proximal myopathy with early respiratory failure UMLS:C1863599|Orphanet:178464|UMLS:C1843633|MESH:C564377|OMIM:607569|SCTID:702373006|Orphanet:34521|ICD10:G71.0|SCTID:733490006|DOID:0111188|OMIM:603689|MESH:C566343|GARD:0012591|UMLS:C4518808 https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure owl:Class ENVO:01001788 biolink:NamedThing marine ecosystem tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002201 biolink:NamedThing vasculature of trunk A vasculature that is part of a trunk [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vascular network of torso|torso vascular network|vascular network of trunk|torso vasculature|trunk vascular network|trunk vasculature|vasculature of torso owl:Class MONDO:0014715 biolink:NamedThing primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. tmpak2llvmy_mondo_relaxed.owl primary immunodeficiency with post-MMR vaccine viral infection|IMD44|immunodeficiency type 44|immunodeficiency 44 OMIM:616636|UMLS:C4225260|ICD10:D84.8|Orphanet:431166 owl:Class MONDO:0054716 biolink:NamedThing microcephaly 19, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl primary autosomal recessive microcephaly 19|microcephaly 19, PRIMARY, autosomal recessive|MCPH19 UMLS:C4540488|DOID:0070281|OMIM:617800 owl:Class ECTO:0500000 biolink:NamedThing exposure to environmental disposition A exposure event involving the interaction of an exposure receptor to environmental disposition. tmpak2llvmy_mondo_relaxed.owl environmental disposition exposure owl:Class HGNC:6404 biolink:NamedThing KPTN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013961 biolink:NamedThing hypogonadotropic hypogonadism 16 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism 16 with or without anosmia|SEMA3A hypogonadotropic hypogonadism|HH16|hypogonadotropic hypogonadism caused by mutation in SEMA3A UMLS:C3554021|ICD10:E23.0|DOID:0090080|OMIM:614897 owl:Class MONDO:0021630 biolink:NamedThing lipoma of face A lipoma that involves the face. tmpak2llvmy_mondo_relaxed.owl face lipoma SCTID:93159009|ICD9:214.0 owl:Class GO:0006816 biolink:NamedThing calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl mitochondrial sodium/calcium ion exchange|calcium transport|sodium:calcium exchange owl:Class MONDO:0008392 biolink:NamedThing Roussy-Levy syndrome tmpak2llvmy_mondo_relaxed.owl hereditary motor sensory neuropathy I|Roussy levy syndrome|Roussy-Lévy syndrome|hereditary areflexic dystasia, Roussy-levy type|Roussy-levy syndrome|Roussy-levy disease|Charcot-Marie-Tooth-Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|hereditary areflexic dystasia, Roussy-Lévy type|HMSN I|Roussy levy hereditary areflexic dystasia|Charcot-Marie-Tooth disease (variant)|hereditary areflexic dystasia GARD:0004741|ICD10:G60.0|Orphanet:3115|OMIM:180800|ICD9:334.3|SCTID:45853006 owl:Class MONDO:0009465 biolink:NamedThing multiple intestinal atresia Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. tmpak2llvmy_mondo_relaxed.owl multiple gastrointestinal atresias|intestinal atresia, multiple|combined immunodeficiency-enteropathy spectrum|gastrointestinal defects and immunodeficiency syndrome|intestinal atresia multiple|familial intestinal polyatresia syndrome|GIDID|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|multiple intestinal atresia|Cid-MIA/early-onset IBD ICD9:751.8|ICD10:Q43.8|MESH:C562441|Orphanet:2300|OMIM:243150|SCTID:95472001|GARD:0003013|ICD10:Q82.8|MedDRA:10028210|Orphanet:436252|DOID:14671 https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple owl:Class HGNC:7096 biolink:NamedThing MID2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007900 biolink:NamedThing nonsyndromic congenital nail disorder 3 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. tmpak2llvmy_mondo_relaxed.owl nail disorder, nonsyndromic congenital, type 3|nail disorder, nonsyndromic congenital, 3|inherited isolated nail anomaly caused by mutation in PLCD1|leukonychia totalis multiple sebaceous cysts renal calculi|leukonychia Striatus|leukonychia punctata|porcelain nails|leukonychia totalis and/or partialis|PLCD1 inherited isolated nail anomaly|NDNC3|nonsyndromic congenital nail disorder type 3|Gorlin Bushkell Jensen syndrome MESH:C537289|OMIM:151600|GARD:0002555|ICD9:703.8|DOID:0080081|SCTID:74102009 https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome owl:Class MONDO:0054691 biolink:NamedThing immunodeficiency, common variable, 14 tmpak2llvmy_mondo_relaxed.owl immunodeficiency, COMMON variable, 14|immunodeficiency, common variable, 14|CVID14 UMLS:C4540380|OMIM:617765 owl:Class MONDO:0022700 biolink:NamedThing cerebral palsy spastic monoplegic tmpak2llvmy_mondo_relaxed.owl spastic monoplegia cerebral palsy|spastic monoplegic cerebral palsy GARD:0010446 https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic owl:Class MONDO:0018941 biolink:NamedThing furuncular myiasis Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). tmpak2llvmy_mondo_relaxed.owl furunculoid myiasis|furunculous myiasis UMLS:C2931766|Orphanet:591|GARD:0002418|ICD10:B87.0|MESH:C538194 owl:Class MONDO:0054838 biolink:NamedThing cardiomyopathy, familial hypertrophic 27 tmpak2llvmy_mondo_relaxed.owl CMH27|cardiomyopathy, FAMILIAL hypertrophic 27 UMLS:CN252335|OMIM:618052 owl:Class CL:0000119 biolink:NamedThing cerebellar Golgi cell Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004.|Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell enters ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004. tmpak2llvmy_mondo_relaxed.owl Golgi cell|cerebellar Golgi neuron|Golgi neuron|cerebellum Golgi cell cell owl:Class MONDO:0008248 biolink:NamedThing pigmented purpuric eruption tmpak2llvmy_mondo_relaxed.owl Schamberg disease|Schamberg purpura|pigmented purpura|progressive pigmented purpura|pigmented purpuric eruption|familial pigmented purpuric eruption|pigmented purpuric dermatosis SCTID:20343006|OMIM:172900|GARD:0007609|UMLS:C0406515|MESH:C537186 owl:Class HP:0000707 biolink:NamedThing Abnormality of the nervous system An abnormality of the nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormality of the nervous system|Neurologic abnormalities|Brain and/or spinal cord issue|Neurological abnormality UMLS:C0497552|SNOMEDCT_US:88425004|MSH:D009421 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. HP:0001333|HP:0006987 human_phenotype owl:Class MONDO:0030067 biolink:NamedThing treacher collins syndrome 4 tmpak2llvmy_mondo_relaxed.owl TCS4|treacher collins syndrome 4|TREACHER COLLINS SYNDROME 4 OMIM:618939 owl:Class MONDO:0006608 biolink:NamedThing seborrheic dermatitis A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. tmpak2llvmy_mondo_relaxed.owl Seborrhoeic eczema|seborrheic dermatitis|seborrhea|seborrheic dermatitis (disease)|cradle Cap|seborrheic eczema|skin seborrheic|Seborrhoeic dermatitis seborrheic dermatitis (disease) DOID:8741|HP:0001051|ICD9:706.3|ICD9:690.1|MESH:D012628|ICD10:L21.9|NCIT:C111888|UMLS:C0036508|ICD9:690.10|EFO:1000764|ICD10:L21 owl:Class HGNC:26200 biolink:NamedThing STN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010471 biolink:NamedThing Cornelia de Lange syndrome 5 tmpak2llvmy_mondo_relaxed.owl Cornelia de Lange syndrome 5|Cornelia DE Lange syndrome 5|CDLS5|Cornelia De Lange syndrome type 5 UMLS:C3550903|DOID:0080509|OMIM:300882 owl:Class MONDO:0018499 biolink:NamedThing double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy tmpak2llvmy_mondo_relaxed.owl DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy Orphanet:423712|ICD10:Q24.8 owl:Class GO:0045577 biolink:NamedThing regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation. tmpak2llvmy_mondo_relaxed.owl regulation of B lymphocyte differentiation|regulation of B-cell differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development owl:Class GO:0045671 biolink:NamedThing negative regulation of osteoclast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. tmpak2llvmy_mondo_relaxed.owl inhibition of osteoclast differentiation|downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|down-regulation of osteoclast differentiation owl:Class GO:0046488 biolink:NamedThing phosphatidylinositol metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpak2llvmy_mondo_relaxed.owl PtdIns metabolic process|phosphoinositide metabolic process|phosphatidylinositol metabolism|PtdIns metabolism|phosphoinositide metabolism owl:Class SO:0000651 biolink:NamedThing cytosolic_LSU_rRNA Cytosolic LSU rRNA is an RNA component of the large subunit of cytosolic ribosomes. tmpak2llvmy_mondo_relaxed.owl cytosolic large subunit rRNA|cytosolic LSU rRNA|cytosolic LSU RNA owl:Class SO:0002343 biolink:NamedThing cytosolic_rRNA Cytosolic rRNA is an RNA component of the small or large subunits of cytosolic ribosomes. tmpak2llvmy_mondo_relaxed.owl cytosolic rRNA|cytosolic ribosomal RNA owl:Class GO:0070613 biolink:NamedThing regulation of protein processing Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. tmpak2llvmy_mondo_relaxed.owl regulation of protein maturation by peptide bond cleavage owl:Class MONDO:0002422 biolink:NamedThing adamantinoma A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. tmpak2llvmy_mondo_relaxed.owl adamantinoma of long bones|adamantinoma|adamantinoma of long bone|Extragnathic adamantinoma|adamantinoma, malignant|long bone adamantinoma|adamantinoma of long bones (morphologic abnormality) MESH:C562741|MESH:D050398|ICD9:170.9|ONCOTREE:ADMA|DOID:2775|UMLS:C1367554|ICDO:9261/3|Orphanet:55881|OMIM:102660|SCTID:307609003|UMLS:C0334556|ICD10:C40.2|DOID:2776|NCIT:C7644 owl:Class MONDO:0030316 biolink:NamedThing lymphatic malformation 11 tmpak2llvmy_mondo_relaxed.owl lymphatic malformation 11|LMPHM11 OMIM:619401 owl:Class MONDO:0030985 biolink:NamedThing premature ovarian failure 19 tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 19|POF19 OMIM:619245 owl:Class GO:0043558 biolink:NamedThing regulation of translational initiation in response to stress Any process that modulates the frequency, rate or extent of translation initiation, as a result of a stimulus indicating the organism is under stress. tmpak2llvmy_mondo_relaxed.owl regulation of translation initiation in response to stress owl:Class MONDO:0011629 biolink:NamedThing MOGS-CDG MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). tmpak2llvmy_mondo_relaxed.owl CDG syndrome type IIb|CDG IIb|GCS1-CDG|glucosidase 1 deficiency|congenital disorder of glycosylation type 2b|congenital disorder of glycosylation type IIb|carbohydrate deficient glycoprotein syndrome type IIb|CDG 2B|congenital disorder of glycosylation, type IIb|CDG-IIb|MOGS-CDG (CDG-IIb)|MOGS-CDG|CDG2B DOID:0070254|Orphanet:79330|GARD:0010767|UMLS:C1853736|OMIM:606056|MESH:C565264|ICD10:E77.8|SCTID:725028009 owl:Class MONDO:0032849 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies tmpak2llvmy_mondo_relaxed.owl NEDSOSB|NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES OMIM:618651 owl:Class MONDO:0002660 biolink:NamedThing blepharochalasis An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. tmpak2llvmy_mondo_relaxed.owl blepharochalasis|blepharochalasis (disease) blepharochalasis (disease) SCTID:47704002|HP:0010749|DOID:348|ICD9:374.34|UMLS:C0005742|ICD10:H02.3 owl:Class UBERON:0005622 biolink:NamedThing right dorsal aorta tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009651 biolink:NamedThing nephron tubule basement membrane A basement membrane that is part of a nephron tubule. tmpak2llvmy_mondo_relaxed.owl renal tubule basement membrane|renal tubular basement membrane|kidney tubule basement membrane owl:Class HGNC:12933 biolink:NamedThing ZNF148 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000030 biolink:NamedThing sleep-related hypermotor epilepsy tmpak2llvmy_mondo_relaxed.owl sleep-related hypermotor epilepsy|epilepsy, nocturnal frontal lobe OMIMPS:600513 https://github.com/monarch-initiative/mondo/issues/3891 owl:Class GO:0010677 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018226 biolink:NamedThing pulmonary part of lymphatic system An organ system subdivision that is the part of the lymphoid system that includes the pulmonary lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl pulmonary lymphatic vasculature|pulmonary lymphatic chain owl:Class CL:0009030 biolink:NamedThing enteroendocrine cell of appendix An intestinal enteroendocrine cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendix enteroendocrine cell|enteroendocrine cell of appendix vermiformis|enteroendocrine cell of vermiform appendix owl:Class MONDO:0032865 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 tmpak2llvmy_mondo_relaxed.owl PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5|PFBMFT5 OMIM:618674 owl:Class MONDO:0010950 biolink:NamedThing type 1 diabetes mellitus 8 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. tmpak2llvmy_mondo_relaxed.owl insulin-dependent diabetes mellitus 8|IDDM8|diabetes mellitus, insulin-dependent, 8 OMIM:600883|MESH:C563433|UMLS:C1833218|ICD10:E10|DOID:0110747 owl:Class MONDO:0004432 biolink:NamedThing mature pericardial teratoma A benign teratoma that arises from the pericardium. tmpak2llvmy_mondo_relaxed.owl pericardium mature teratoma|mature pericardial teratoma|mature teratoma of pericardium|mature teratoma of the pericardium|benign pericardial teratoma DOID:8012|NCIT:C6744|UMLS:C1334638 owl:Class MONDO:0600030 biolink:NamedThing B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults. tmpak2llvmy_mondo_relaxed.owl B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)|B-lymphoblastic leukemia/lymphoma with TCF3-PBX1|B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality) ICD-10:C91.0|SCTID:450956008|Orphanet:585956|DOID:0080649|NCIT:C80347 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0022598 biolink:NamedThing brachydactyly absence of distal phalanges tmpak2llvmy_mondo_relaxed.owl GARD:0000961 https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges owl:Class MONDO:0022891 biolink:NamedThing craniosynostosis Maroteaux Fonfria type tmpak2llvmy_mondo_relaxed.owl GARD:0001598 https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type owl:Class MONDO:0011201 biolink:NamedThing tremor, hereditary essential, 2 tmpak2llvmy_mondo_relaxed.owl tremor hereditary essential, 2|tremor, hereditary essential, 2|ETM2 DOID:0111429|OMIM:602134|MESH:C536546|GARD:0009500 owl:Class HGNC:30611 biolink:NamedThing STT3B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032590 biolink:NamedThing ovarian dysgenesis 8 tmpak2llvmy_mondo_relaxed.owl OVARIAN DYSGENESIS 8|ODG8 OMIM:618187|DOID:0080500 owl:Class GO:0032886 biolink:NamedThing regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010479 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease X-linked dominant type 6|CMT6X|CMTX6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|Charcot-Marie-Tooth disease, X-linked dominant, type 6|X-linked Charcot-Marie-Tooth disease type 6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|Charcot-Marie-Tooth disease, X-linked dominant, 6 UMLS:C3806702|SCTID:763347000|DOID:0110207|GARD:0012445|Orphanet:352675|OMIM:300905|ICD10:G60.0 Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 owl:Class MONDO:0030059 biolink:NamedThing developmental and epileptic encephalopathy, 87 tmpak2llvmy_mondo_relaxed.owl DEE87|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87|EIEE87|epileptic encephalopathy, early infantile, 87 OMIM:618916 owl:Class MONDO:0018212 biolink:NamedThing familial cervical artery dissection An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary cervical artery dissection|hereditary CAD|familial CAD UMLS:CN204734|ICD10:I72.5|Orphanet:36382|ICD10:I72.0 owl:Class MONDO:0011412 biolink:NamedThing familial encephalopathy with neuroserpin inclusion bodies tmpak2llvmy_mondo_relaxed.owl encephalopathy, familial, with neuroserpin inclusion bodies|encephalopathy, familial, with Collins bodies|FENIB Orphanet:85110|DOID:0050831|ICD10:G31.8|GARD:0010037|OMIM:604218|ICD9:348.39|SCTID:702421006|UMLS:C1858680|MESH:C536841 https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies owl:Class MONDO:0014574 biolink:NamedThing peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome tmpak2llvmy_mondo_relaxed.owl plack syndrome|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome|plack|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads UMLS:C4225381|ICD10:Q82.8|Orphanet:444138|OMIM:616295 owl:Class CHEBI:76863 biolink:NamedThing EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*). tmpak2llvmy_mondo_relaxed.owl oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|EC 1.5.1.* inhibitors|EC 1.5.1.* inhibitor|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors owl:Class MONDO:0022795 biolink:NamedThing deficiency of coenzyme q cytochrome c reductase tmpak2llvmy_mondo_relaxed.owl coenzyme Q cytochrome c reductase deficiency of GARD:0001419 https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of owl:Class MONDO:0000453 biolink:NamedThing short QT syndrome A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified tmpak2llvmy_mondo_relaxed.owl short QT syndrome|familial short QT syndrome|ventricular arrhythmia associated with short QT syndrome MESH:C580439|UMLS:C2348199|DOID:0050793|ICD9:426.89|ICD10:I49.8|OMIMPS:609620|SCTID:698272007|NCIT:C71060|Orphanet:51083 owl:Class MONDO:0001555 biolink:NamedThing neonatal thyrotoxicosis A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. tmpak2llvmy_mondo_relaxed.owl infantile hyperthyroidism DOID:12573|ICD9:775.3|ICD10:P72.1|NCIT:C114906|UMLS:C0158983|SCTID:13795004 owl:Class MONDO:0010138 biolink:NamedThing thyrotoxicosis A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. tmpak2llvmy_mondo_relaxed.owl hyperthyroidism, autoimmune|GRD1|thyrotoxicosis|Grd|Graves disease, susceptibility to, 1 SCTID:90739004|NCIT:C61469|ICD10:E05.9|DOID:7997|EFO:0009190|ICD9:242.80|MESH:D013971|ICD9:242|OMIM:275000|UMLS:C0040156|ICD9:242.90 Editor note: TODO separate out predisposition owl:Class CHEBI:8386 biolink:NamedThing pregnane tmpak2llvmy_mondo_relaxed.owl pregnane owl:Class MONDO:0010415 biolink:NamedThing myopathy, reducing body, X-linked, childhood-onset tmpak2llvmy_mondo_relaxed.owl reducing body myopathy, X-linked 1B, with late childhood or adult onset|myopathy, reducing body, X-linked, childhood-onset|RBMX1B UMLS:C2678015|MESH:C567468|OMIM:300718 owl:Class MONDO:0019948 biolink:NamedThing reducing body myopathy Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. tmpak2llvmy_mondo_relaxed.owl ICD9:359.89|Orphanet:97239|DOID:0080090|GARD:0012162|ICD10:G71.2|SCTID:42779002 https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy owl:Class MONDO:0005641 biolink:NamedThing aleutian mink disease A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. tmpak2llvmy_mondo_relaxed.owl Aleutian mink disease virus infectious disease|Aleutian mink disease virus disease or disorder|Aleutian disease|Aleutian mink disease virus caused disease or disorder EFO:0007139|SCTID:62251004|UMLS:C0002016|MESH:D000453|DOID:2934|ICD9:079.89 owl:Class NCBITaxon:436492 biolink:NamedThing Coelurosauria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436491 biolink:NamedThing Theropoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001122 biolink:NamedThing chronic maxillary sinusitis Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpak2llvmy_mondo_relaxed.owl chronic antritis|maxillary sinusitis, chronic SCTID:35923002|ICD10:J32.0|DOID:10792|ICD9:473.0|NCIT:C34477|UMLS:C0008698 owl:Class HGNC:24565 biolink:NamedThing KANSL1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005328 biolink:NamedThing mesonephric comma-shaped body The mesonephric comma-shaped body is the precursor structure to the mesonephric S-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004198 biolink:NamedThing comma-shaped body The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron tmpak2llvmy_mondo_relaxed.owl CSB owl:Class UBERON:0006833 biolink:NamedThing lumen of trachea An anatomical space that surrounded_by a trachea. tmpak2llvmy_mondo_relaxed.owl tracheal lumen|lumen of cartilaginous trachea owl:Class UBERON:0001960 biolink:NamedThing periarterial lymphatic sheath The area of the spleen in which T cells surround the central arteriole tmpak2llvmy_mondo_relaxed.owl periarterial lymphoid sheath|periarteriolar sheath|T cell domain of the splenic white pulp|PALS|spleen periarteriolar lymphatic sheath|splenic periarteriolar lymphoid sheath owl:Class UBERON:0005082 biolink:NamedThing tube lumen A hole in a tube[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000751 biolink:NamedThing perception behavior by means tmpak2llvmy_mondo_relaxed.owl owl:Class NBO:0000308 biolink:NamedThing sensation behavior "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl perception behavior|behavior involving perception owl:Class CL:1000279 biolink:NamedThing smooth muscle cell of large intestine A smooth muscle cell that is part of the large intestine. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of large intestine FMA:15653 cell owl:Class CL:0000114 biolink:NamedThing surface ectodermal cell tmpak2llvmy_mondo_relaxed.owl surface ectoderm cell|cell of surface ectoderm FMA:72552 cell owl:Class MONDO:0001430 biolink:NamedThing deep corneal vascularisation tmpak2llvmy_mondo_relaxed.owl deep vascularization of cornea DOID:12087|UMLS:C0155095|ICD10:H16.44|ICD9:370.63|SCTID:2102007 owl:Class MONDO:0006713 biolink:NamedThing corneal neovascularization New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. tmpak2llvmy_mondo_relaxed.owl ICD10:H16.4|DOID:11382|UMLS:C0085109|ICD10:H16.40|ICD9:370.6|MESH:D016510|SCTID:19161004|MedDRA:10011031|ICD9:370.60|EFO:1000880 owl:Class GO:0030522 biolink:NamedThing intracellular receptor signaling pathway Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. tmpak2llvmy_mondo_relaxed.owl intracellular receptor mediated signaling pathway|intracellular receptor-mediated signaling pathway|intracellular receptor-mediated signalling pathway owl:Class MONDO:0021138 biolink:NamedThing bone marrow cancer Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 tmpak2llvmy_mondo_relaxed.owl bone marrow cancer|malignant bone marrow neoplasm|malignant bone marrow tumor|cancer of bone marrow|malignant neoplasm of bone marrow NCIT:C35501|UMLS:C2703042 owl:Class HP:0010622 biolink:NamedThing Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. tmpak2llvmy_mondo_relaxed.owl Skeletal tumour|Skeletal tumor|Neoplasia of the skeletal system|Bone neoplasm UMLS:C4020771|SNOMEDCT_US:442868003|NCIT:C3262|UMLS:C2732838 peter 2010-06-25T08:54:46Z human_phenotype owl:Class CL:1001601 biolink:NamedThing adrenal gland glandular cell Hormone secreting cell located in the cortex of adrenal gland. Glandular cells in the adrenal cortex secrete mineralocorticoids, glucocorticoids and androgens. tmpak2llvmy_mondo_relaxed.owl suprarenal gland glandular cell|adrenal gland glandular cells|adrenal glandular cell CALOHA:TS-2177 owl:Class UBERON:0018246 biolink:NamedThing thyroid vein A vein that drains a thyroid gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000674 biolink:NamedThing mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. tmpak2llvmy_mondo_relaxed.owl DOID:0060144 owl:Class GO:0044149 biolink:NamedThing positive regulation of formation of structure involved in a symbiotic process Any process that activates or increases the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpak2llvmy_mondo_relaxed.owl positive regulation of development of symbiont during interaction with host|positive regulation of development of symbiont involved in interaction with host owl:Class MONDO:0019951 biolink:NamedThing rigid spine syndrome Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. tmpak2llvmy_mondo_relaxed.owl rigid spine muscular dystrophy-1|muscular dystrophy, congenital, merosin positive with early spine rigidity|rigid spine congenital muscular dystrophy|desmin-related myopathies with Mallory bodies GARD:0004723|Orphanet:97244|ICD10:G71.2|MESH:C535683 owl:Class GO:0036161 biolink:NamedThing calcitonin secretion The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009769 biolink:NamedThing oculo-palato-cerebral syndrome Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl oculo-palato-cerebral dwarfism|oculopalatocerebral dwarfism|oculopalatocerebral syndrome|OPC dwarfism Orphanet:2714|ICD10:Q87.1|SCTID:722055008|MESH:C564935|UMLS:C1850338|OMIM:257910 owl:Class MONDO:0019132 biolink:NamedThing spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:73245|UMLS:CN205656|ICD10:G12.8 owl:Class MONDO:0003391 biolink:NamedThing vulvar alveolar soft part sarcoma An alveolar soft part sarcoma arising from the vulva. tmpak2llvmy_mondo_relaxed.owl UMLS:C1520069|DOID:5313|NCIT:C40320 owl:Class HGNC:22962 biolink:NamedThing MED13L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010147 biolink:NamedThing male accessory sex gland Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male. tmpak2llvmy_mondo_relaxed.owl male accessory gland|male accessory reproductive gland owl:Class MONDO:0015148 biolink:NamedThing lissencephaly type 3 tmpak2llvmy_mondo_relaxed.owl Orphanet:102011|ICD10:Q04.3 owl:Class GO:0006836 biolink:NamedThing neurotransmitter transport The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpak2llvmy_mondo_relaxed.owl sodium:neurotransmitter transport owl:Class HGNC:12582 biolink:NamedThing UQCRB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035229 biolink:NamedThing positive regulation of glutamate-cysteine ligase activity Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. tmpak2llvmy_mondo_relaxed.owl up-regulation of glutamate-cysteine ligase activity|up regulation of glutamate-cysteine ligase activity|upregulation of glutamate-cysteine ligase activity|activation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity owl:Class GO:0051351 biolink:NamedThing positive regulation of ligase activity Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpak2llvmy_mondo_relaxed.owl up-regulation of ligase activity|stimulation of ligase activity|up regulation of ligase activity|ligase activator|activation of ligase activity|upregulation of ligase activity owl:Class MONDO:0017330 biolink:NamedThing malignancy diagnosed during pregnancy tmpak2llvmy_mondo_relaxed.owl cancer diagnosed during pregnancy Orphanet:289385|UMLS:CN227116 owl:Class GO:0098662 biolink:NamedThing inorganic cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl inorganic cation membrane transport|transmembrane inorganic cation transport|monovalent inorganic cation transport|divalent inorganic cation transport owl:Class MONDO:0006182 biolink:NamedThing digestive system mixed adenoneuroendocrine carcinoma A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made. tmpak2llvmy_mondo_relaxed.owl gastrointestinal mixed Adenoneuroendocrine carcinoma|mixed Adenoneuroendocrine carcinoma|gastrointestinal MANEC|digestive system mixed adenoneuroendocrine carcinoma|digestive system Mixed Adenoneuroendocrine cancer|MANEC NCIT:C95406|EFO:1000219|UMLS:C2987129|ICDO:8244/3 owl:Class GO:0098609 biolink:NamedThing cell-cell adhesion The attachment of one cell to another cell via adhesion molecules. tmpak2llvmy_mondo_relaxed.owl single organismal cell-cell adhesion owl:Class CL:0000791 biolink:NamedThing mature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. tmpak2llvmy_mondo_relaxed.owl mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte|mature alpha-beta T-cell cell owl:Class MONDO:0006226 biolink:NamedThing gastric mucosa-associated lymphoid tissue lymphoma A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy. tmpak2llvmy_mondo_relaxed.owl primary gastric MALT lymphoma|MALT lymphoma of stomach|MALToma of stomach|MALT lymphoma of the stomach|gastric mucosa-associated lymphoid tissue lymphoma|primary MALT lymphoma of stomach|gastric MALToma|stomach MALT lymphoma|primary gastric B-cell MALT lymphoma|primary MALT lymphoma of the stomach|MALToma of the stomach|gastric MALT lymphoma NCIT:C5266|EFO:1000274|UMLS:C1333782 owl:Class GO:0017119 biolink:NamedThing Golgi transport complex A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8. tmpak2llvmy_mondo_relaxed.owl conserved oligomeric Golgi complex|Sec34/35 complex|COG complex owl:Class GO:0099023 biolink:NamedThing vesicle tethering complex Any protein complex that plays a role in vesicle tethering. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006582 biolink:NamedThing mongolian spot A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. tmpak2llvmy_mondo_relaxed.owl blue sacral spot|congenital dermal melanocytosis|Mongolian macula NCIT:C3945|Wikipedia:Mongolian_spot|UMLS:C0265985|DOID:4702|SCTID:40467008|MESH:D049328|EFO:1000736 owl:Class GO:1900451 biolink:NamedThing positive regulation of glutamate receptor signaling pathway Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway|activation of glutamate signalling pathway|positive regulation of glutamate signaling pathway|upregulation of glutamate signalling pathway|activation of glutamate receptor signaling pathway|up-regulation of glutamate receptor signaling pathway|up regulation of glutamate signaling pathway|positive regulation of glutamate signalling pathway|activation of glutamate signaling pathway|up regulation of glutamate signalling pathway|up regulation of glutamate receptor signaling pathway|upregulation of glutamate signaling pathway|up-regulation of glutamate signaling pathway owl:Class MONDO:0012210 biolink:NamedThing migraine with aura, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl Mgr7|migraine with aura, susceptibility to, 7|migraine with aura, susceptibility to, type 7 UMLS:C1836670|OMIM:609179 owl:Class MONDO:0005019 biolink:NamedThing diffuse scleroderma A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. tmpak2llvmy_mondo_relaxed.owl diffuse systemic sclerosis|systemic sclerosis, diffuse MESH:D045743|DOID:1580|EFO:0000404 owl:Class OBO:CARO_0000007 biolink:NamedThing immaterial anatomical entity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001213 biolink:NamedThing serous glue ear Chronic form of serous otitis media. tmpak2llvmy_mondo_relaxed.owl chronic secretory otitis media, serous|chronic serous otitis media|serous otitis media, chronic ICD10:H65.20|ICD9:381.19|ICD10:H65.2|ICD9:381.10|DOID:11181|UMLS:C0155421|SCTID:81564005|ICD9:381.1 owl:Class MONDO:0008780 biolink:NamedThing amyotrophic lateral sclerosis type 2, juvenile Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene. tmpak2llvmy_mondo_relaxed.owl ALS2|amyotrophic lateral sclerosis 2, juvenile|ALS2 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ALS2|ALS, juvenile|amyotrophic lateral sclerosis 2 GARD:0009470|MESH:C565957|DOID:0060194|OMIM:205100|ICD10:G12.2 https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 owl:Class MONDO:0001306 biolink:NamedThing recurrent corneal erosion tmpak2llvmy_mondo_relaxed.owl recurrent erosion of cornea|recurrent erosion syndrome HP:0000495|ICD9:371.42|ICD10:H18.83|DOID:11541|SCTID:2055003|UMLS:C0155119 Editor note: consider obsoleting as is a finding owl:Class MONDO:0014053 biolink:NamedThing stomatin-like protein-2, hyperphosphorylation of tmpak2llvmy_mondo_relaxed.owl hyperphosphorylated Paratarg-7|stomatin-like protein-2, hyperphosphorylation of OMIM:615121 owl:Class UBERON:0004374 biolink:NamedThing vitelline vasculature vascular network that is connected to the yolk sac. tmpak2llvmy_mondo_relaxed.owl vitelline bloos vessel system|omphalomesenteric system|vitelline system owl:Class MONDO:0016418 biolink:NamedThing multiple system atrophy, cerebellar type Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). tmpak2llvmy_mondo_relaxed.owl MSA-c|sporadic olivopontocerebellar atrophy type 1|sporadic OPCA type 1|MSA, cerebellar type Orphanet:227510|UMLS:CN201371|ICD10:G90.3 owl:Class UBERON:0011775 biolink:NamedThing vagus nerve nucleus A cranial nerve nucleus that is associated with a vagus nerve. tmpak2llvmy_mondo_relaxed.owl vagal X nucleus|vagal nucleus|nucleus of Xth nerve|nodosal nucleus|tenth cranial nerve nucleus|nucleus of vagus nerve|vagus nucleus|nucleus of vagal nerve|nucleus of vagal X nerve owl:Class CHEBI:25710 biolink:NamedThing organophosphorus compound An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. tmpak2llvmy_mondo_relaxed.owl organophosphorus compounds|organophosphorus compound owl:Class UBERON:0004277 biolink:NamedThing eye muscle A muscle that is part of the eye region. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003255 biolink:NamedThing mediastinal granular cell myoblastoma An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinum granular cell tumor|granular cell myoblastoma of mediastinum|granular cell tumor of the mediastinum|mediastinal granular cell myoblastoma|granular cell tumor of mediastinum|granular cell myoblastoma of the mediastinum|granular cell neoplasm of the mediastinum|mediastinal granular cell tumor|granular cell neoplasm of mediastinum|mediastinal granular cell neoplasm DOID:5046|NCIT:C6601|UMLS:C1334656 owl:Class MONDO:0000486 biolink:NamedThing craniofacial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. tmpak2llvmy_mondo_relaxed.owl cranio-facial dystonia DOID:0050845|UMLS:C4023011|GARD:0010667 MONDO:0022885 https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia owl:Class HGNC:8574 biolink:NamedThing PAFAH1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006596 biolink:NamedThing presumptive blood tmpak2llvmy_mondo_relaxed.owl future blood owl:Class MONDO:0012279 biolink:NamedThing congenital muscular dystrophy merosin-positive The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, merosin-POSITIVE UMLS:C1836133|OMIM:609456|DOID:0110638|MESH:C563716|GARD:0003855 https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive owl:Class HGNC:2810 biolink:NamedThing GSDME tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006916 biolink:NamedThing postcholecystectomy syndrome Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. tmpak2llvmy_mondo_relaxed.owl EFO:1001117|SCTID:90782003|UMLS:C0152099|ICD10:K91.5|ICD9:576.0|MESH:D017562|DOID:9740 owl:Class MONDO:0001634 biolink:NamedThing bladder leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of the bladder|leiomyoma of urinary bladder|urinary bladder leiomyoma|bladder leiomyoma|leiomyoma of bladder|leiomyoma of the urinary bladder NCIT:C6178|DOID:13109|UMLS:C1332560 owl:Class MONDO:0022007 biolink:NamedThing water intoxication A condition resulting from the excessive retention of water with sodium depletion. tmpak2llvmy_mondo_relaxed.owl Water Intoxication|Water intoxication syndrome|water intoxication syndrome|WATER INTOX|Water intoxication MESH:D014869|SCTID:71785001|UMLS:C0043049 owl:Class MONDO:0007233 biolink:NamedThing second branchial cleft anomaly A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. tmpak2llvmy_mondo_relaxed.owl branchial cleft anomalies|branchial cysts|branchial cleft remnant|second branchial cleft cyst|branchial cleft|second branchial cleft fistula SCTID:73381000119100|OMIM:113600|Orphanet:141022|ICD10:Q18.0|NCIT:C104813 owl:Class MONDO:0017673 biolink:NamedThing isolated focal palmoplantar keratoderma A focal palmoplantar keratoderma that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic focal palmoplantar keratoderma|isolated focal PPK|isolated focal palmoplantar hyperkeratosis|isolated focal keratosis palmoplantaris ICD10:Q82.8|Orphanet:307846 owl:Class MONDO:0000397 biolink:NamedThing ataxic cerebral palsy A form of cerebral palsy caused by damage to cerebellar structures. tmpak2llvmy_mondo_relaxed.owl NCIT:C97168|SCTID:278512001|ICD9:343.8|UMLS:C0394005|DOID:0050670 owl:Class GO:0043143 biolink:NamedThing regulation of translation by machinery localization Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl translational protein localization|establishment and maintenance of translational protein localization|regulation of translation by machinery localisation|establishment and maintenance of translational machinery localization|translational machinery localization owl:Class MONDO:0010405 biolink:NamedThing prostate cancer, hereditary, X-linked 2 tmpak2llvmy_mondo_relaxed.owl HPCX2|prostate cancer, hereditary, X-linked 2 OMIM:300704|UMLS:C2678047|MESH:C567477 owl:Class MONDO:0018016 biolink:NamedThing classic neuroendocrine tumor of appendix Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. tmpak2llvmy_mondo_relaxed.owl classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor ICD10:D37.3|Orphanet:329977|UMLS:CN204231 owl:Class MONDO:0000670 biolink:NamedThing cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. tmpak2llvmy_mondo_relaxed.owl UMLS:C0392704|DOID:0060140 owl:Class MONDO:0000667 biolink:NamedThing auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. tmpak2llvmy_mondo_relaxed.owl DOID:0060137 owl:Class HGNC:8927 biolink:NamedThing PHKB tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000323 biolink:NamedThing pyloric gastric gland goblet cell A goblet cell that is part of the epithelium of pyloric gland. tmpak2llvmy_mondo_relaxed.owl goblet cell of epithelium of pyloric gland FMA:263061 cell owl:Class MONDO:0021478 biolink:NamedThing benign neoplasm of nasopharynx A benign neoplasm that involves the nasopharynx. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the nasopharynx|benign nasopharyngeal neoplasm|benign tumor of the nasopharynx|benign nasopharyngeal tumor|nasopharynx benign neoplasm|benign tumor of nasopharynx|nasopharyngeal neoplasm, benign SCTID:188800003|ICD10:D10.6|NCIT:C3595|ICD9:210.7|UMLS:C0153938 owl:Class MONDO:0010770 biolink:NamedThing ubiquitin-activating enzyme, Y-linked tmpak2llvmy_mondo_relaxed.owl ubiquitin-activating enzyme, Y-linked|Ube1Y OMIM:489000 owl:Class MONDO:0013489 biolink:NamedThing autosomal recessive nonsyndromic deafness 89 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness type 89|autosomal recessive nonsyndromic deafness caused by mutation in KARS|autosomal recessive deafness 89|KARS autosomal recessive nonsyndromic deafness|DFNB89|deafness, autosomal recessive type 89|autosomal recessive nonsyndromic deafness 89 DOID:0110534|UMLS:C3151351|ICD10:H90.3|OMIM:613916 owl:Class CHEBI:139592 biolink:NamedThing tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. tmpak2llvmy_mondo_relaxed.owl tertiary alpha-hydroxyketones|tertiary alpha-hydroxy ketones|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketone owl:Class CHEBI:26878 biolink:NamedThing tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. tmpak2llvmy_mondo_relaxed.owl tertiary alcohol|tertiary alcohols owl:Class NCBITaxon:56211 biolink:NamedThing Calomys laucha tmpak2llvmy_mondo_relaxed.owl small vesper mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005823 biolink:NamedThing legionellosis Any disease caused by Legionella bacteria. tmpak2llvmy_mondo_relaxed.owl Legionella infection|Legionnaires disease ICD10:A48.1|DOID:10458|EFO:0007342|UMLS:C0023240|UMLS:CN205282|MedDRA:10061266|SCTID:26726000|Orphanet:549|NCIT:C128334|MESH:D007876|MedDRA:10035718 owl:Class MONDO:0013974 biolink:NamedThing ectodermal dysplasia 6, hair/nail type tmpak2llvmy_mondo_relaxed.owl ECTD6|ectodermal dysplasia 6, hair/nail type UMLS:C3554111|OMIM:614928|DOID:0111659 owl:Class HGNC:7599 biolink:NamedThing MYO1E tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015567 biolink:NamedThing cataract-glaucoma syndrome Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. tmpak2llvmy_mondo_relaxed.owl cataract - glaucoma UMLS:CN199931|SCTID:718851007|GARD:0001160|Orphanet:162|ICD10:Q12.0 https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma owl:Class MONDO:0005374 biolink:NamedThing bone marrow neoplasm Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). tmpak2llvmy_mondo_relaxed.owl bone marrow neoplasm|malignant bone marrow tumor|tumor of bone marrow|bone marrow neoplasm (disease)|neoplasm of bone marrow|bone marrow cancer|bone marrow tumor NCIT:C35370|ICD9:238.79|MESH:D019046|ICD10:D47.1|DOID:4960|SCTID:414824005|UMLS:C0282609 owl:Class MONDO:0015599 biolink:NamedThing atopic keratoconjunctivitis Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. tmpak2llvmy_mondo_relaxed.owl ICD9:370.49|Orphanet:163934|UMLS:C1274788|SCTID:403434009|ICD10:H16.2|MedDRA:10069664 owl:Class MONDO:0005854 biolink:NamedThing mixed connective tissue disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. tmpak2llvmy_mondo_relaxed.owl MCTD|connective tissue disease overlap syndrome|mixed collagen vascular disease|sharp syndrome EFO:0007374|UMLS:C0026272|GARD:0007051|MedDRA:10027754|ICD10:M35.1|MESH:D008947|DOID:3492|Orphanet:809|SCTID:398049005|NCIT:C84892 https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease owl:Class MONDO:0015928 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease tmpak2llvmy_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD 2022-03-01 Orphanet:182104|UMLS:CN200522 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0021077 biolink:NamedThing cystic neoplasm A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. tmpak2llvmy_mondo_relaxed.owl cystic tumor|cystic neoplasm UMLS:C1333190|NCIT:C6784 owl:Class MONDO:0000938 biolink:NamedThing gastric leiomyoma A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT). tmpak2llvmy_mondo_relaxed.owl leiomyoma of stomach|stomach leiomyoma|leiomyoma of the stomach|gastric leiomyoma UMLS:C0238440|NCIT:C3876|DOID:10087|SCTID:276812001 owl:Class GO:0032997 biolink:NamedThing Fc receptor complex A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. tmpak2llvmy_mondo_relaxed.owl Fc-receptor complex|immunoglobulin receptor complex|FcR complex owl:Class MONDO:0017620 biolink:NamedThing congenital sucrase-isomaltase deficiency without starch intolerance tmpak2llvmy_mondo_relaxed.owl congenital sucrase-isomaltose malabsorption without starch intolerance|CSID without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrose intolerance without starch intolerance Orphanet:306462|ICD10:E74.3 owl:Class MONDO:0009275 biolink:NamedThing neonatal hemochromatosis Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 tmpak2llvmy_mondo_relaxed.owl hemochromatosis neonatal|giant cell Hepatitis, formerly|hemochromatosis, neonatal|neonatal Hepatitis, formerly|Nh|neonatal hepatitis (formerly)|giant cell Hepatitis|Nhc|idiopathic neonatal hemochromatosis|giant cell Hepatitis (formerly)|neonatal Hepatitis|alloimmune Hepatitis, congenital GARD:0007172|UMLS:C0268059|MESH:C536394|OMIM:231100|Orphanet:446|ICD10:E83.1|NCIT:C129980 https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis owl:Class MONDO:0019016 biolink:NamedThing maternally-inherited progressive external ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl maternally-inherited chronic progressive external ophthalmoplegia|maternally-inherited CPEO ICD10:H49.4|Orphanet:663|UMLS:CN924917 owl:Class MONDO:0017798 biolink:NamedThing Spigelian hernia-cryptorchidism syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:K43.6|Orphanet:314432|UMLS:CN203757 owl:Class HP:0100871 biolink:NamedThing Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. tmpak2llvmy_mondo_relaxed.owl Abnormality of the palm UMLS:C4021948 doelkens 2011-11-30T11:21:16Z human_phenotype owl:Class HP:0030236 biolink:NamedThing Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. tmpak2llvmy_mondo_relaxed.owl Abnormality of muscle size UMLS:C4022563 human_phenotype owl:Class HGNC:21197 biolink:NamedThing FA2H tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003444 biolink:NamedThing intrahepatic bile duct adenoma A rare adenoma that arises from the intrahepatic biliary tree. tmpak2llvmy_mondo_relaxed.owl intrahepatic bile duct adenoma|adenoma, HEPATOCHOLANGIOCELLULAR, benign|adenoma of the intrahepatic bile duct|adenoma of intrahepatic bile duct DOID:5437|NCIT:C7126|UMLS:C1331535 owl:Class MONDO:0010744 biolink:NamedThing thrombocytopenia with elevated serum IgA and renal disease tmpak2llvmy_mondo_relaxed.owl thrombocytopenia with elevated serum IgA and renal disease OMIM:314000|GARD:0010576|UMLS:C1839162|MESH:C564051 owl:Class HGNC:449 biolink:NamedThing ALX3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000030 biolink:NamedThing hypothalamus cell Any native cell that is part of a hypothalamus. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T01:17:50Z cell owl:Class MONDO:0020306 biolink:NamedThing absent tibia-polydactyly syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. tmpak2llvmy_mondo_relaxed.owl tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|polydactyly with absent tibia|absence of tibia with polydactyly ICD10:Q87.2|UMLS:C1861099|MESH:C535564|Orphanet:988|GARD:0008309 owl:Class MONDO:0005808 biolink:NamedThing inclusion conjunctivitis Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. tmpak2llvmy_mondo_relaxed.owl adult inclusion conjunctivitis|Paratrachoma|inclusion blennorrhoea|neonatal Chlamydia conjunctivitis|Trachoma|Chlamydial conjunctivitis|inclusion blenorrhea ICD10:A74.0|GARD:0006777|UMLS:C0009770|NCIT:C116817|ICD9:077.0|MESH:D003235|ICD9:077.98|SCTID:231861005|DOID:13800|EFO:0007324 https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis owl:Class MONDO:0005419 biolink:NamedThing metamphetamine dependence A drug dependence that is a psychological dependency on the regular use of metamphetamine. tmpak2llvmy_mondo_relaxed.owl EFO:0004701 owl:Class MONDO:0006569 biolink:NamedThing leg dermatosis A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl MESH:D007868|DOID:3142|EFO:1000723|UMLS:C0023219 owl:Class MONDO:0009069 biolink:NamedThing congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. tmpak2llvmy_mondo_relaxed.owl Leigh syndrome, French Canadian type|Leigh syndrome, Saguenay-Lac-Saint-Jean type|LSFC|Cox deficiency, Saguenay-Lac-Saint-Jean type|Cox deficiency, Saguenay Lac saint Jean type|congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|cytochrome C oxidase deficiency, French Canadian type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|COX deficiency, French-Canadian type|Leigh syndrome, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|cytochrome C oxidase deficiency, French-Canadian type|SLSJ-COX deficiency|Leigh syndrome, French-Canadian type MESH:C537004|Orphanet:70472|SCTID:718219002|OMIM:220111|ICD10:G31.8|GARD:0008370 owl:Class HGNC:171 biolink:NamedThing ACVR1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030854 biolink:NamedThing positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. tmpak2llvmy_mondo_relaxed.owl up-regulation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation|activation of granulocyte differentiation|up regulation of granulocyte differentiation owl:Class GO:1905652 biolink:NamedThing negative regulation of artery morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. tmpak2llvmy_mondo_relaxed.owl down-regulation of arteriogenesis|down-regulation of arterial morphogenesis|negative regulation of arteriogenesis|inhibition of arterial morphogenesis|down regulation of artery morphogenesis|downregulation of arteriogenesis|down-regulation of artery morphogenesis|inhibition of arteriogenesis|down regulation of arterial morphogenesis|downregulation of artery morphogenesis|negative regulation of arterial morphogenesis|downregulation of arterial morphogenesis|inhibition of artery morphogenesis|down regulation of arteriogenesis owl:Class MONDO:0010767 biolink:NamedThing spermatogenic failure, Y-linked, 2 tmpak2llvmy_mondo_relaxed.owl oligospermia, nonobstructive, Y-linked|azoospermia, nonobstructive, Y-linked|spermatogenic arrest, Y-linked|azoospermia Factor regions|spermatogenic failure, Y-linked, 2|Azf regions|SPGFY2|spermatogenic failure, Y-linked, type 2|oligozoospermia, nonobstructive, Y-linked|spermatogenic failure, nonobstructive, Y-linked MESH:C564030|OMIM:415000|DOID:0070187 owl:Class MONDO:0100044 biolink:NamedThing acrofrontofacionasal dysostosis 1 tmpak2llvmy_mondo_relaxed.owl acrofrontofacionasal dysostosis type 1|AFFN dysostosis 1|acrofrontofacionasal dysostosis 1 MESH:C538186|OMIM:201180|UMLS:C4551987 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009942 biolink:NamedThing pyknoachondrogenesis Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. tmpak2llvmy_mondo_relaxed.owl pyknoachondrogenesis|camera syndrome|association of skeletal defects resembling achondrogenesis with generalized bone sclerosis ICD10:Q78.8|GARD:0004610|UMLS:C1849523|MESH:C536251|Orphanet:3003|SCTID:719258003|OMIM:265880 https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis owl:Class UBERON:0005032 biolink:NamedThing mucosa of lower lip A mucosa that is part of a lower lip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lower lip mucosa of organ|lower lip organ mucosa|lower lip mucosa|mucous membrane of lower lip|mucosa of organ of lower lip|lower lip mucous membrane|lower labial mucosa|organ mucosa of lower lip owl:Class HGNC:2861 biolink:NamedThing DHFR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011259 biolink:NamedThing retinitis pigmentosa 22 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. tmpak2llvmy_mondo_relaxed.owl RP 22|RP22|retinitis pigmentosa 22|retinitis pigmentosa type 22 ICD10:H35.5|UMLS:C3887981|DOID:0110400|OMIM:602594|GARD:0010393 https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22 owl:Class MONDO:0009812 biolink:NamedThing osteomalacia, sclerosing, with cerebral calcification tmpak2llvmy_mondo_relaxed.owl osteomalacia, sclerosing, with cerebral calcification MESH:C564916|UMLS:C1850141|OMIM:259660 owl:Class CL:0002081 biolink:NamedThing type II cell of carotid body This cell resembles a glia cell, express the glial marker S100 and act as a supporting cell to type I cell. This cell is located in a small cluster of type I and type II cells near the fork of the carotid artery. tmpak2llvmy_mondo_relaxed.owl sheath cell of carotid body FMA:84187 tmeehan 2010-06-30T04:23:42Z cell owl:Class MONDO:0017980 biolink:NamedThing syngnathia multiple anomalies tmpak2llvmy_mondo_relaxed.owl syngnathia-multiple anomalies syndrome Orphanet:3262|GARD:0005092 https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies owl:Class UBERON:0015834 biolink:NamedThing duodenum lamina propria A lamina propria that is part of a duodenum. tmpak2llvmy_mondo_relaxed.owl lamina propria of duodenum|duodenal lamina propria|lamina propria mucosae of duodenum owl:Class NCBITaxon:426442 biolink:NamedThing Ixodinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003551 biolink:NamedThing midbrain pia mater A pia mater that is part of a midbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesencephalon pia mater|pia mater of midbrain|pia mater of neuraxis of midbrain|midbrain pia mater of neuraxis owl:Class MONDO:0043152 biolink:NamedThing negative rheumatoid factor polyarthritis tmpak2llvmy_mondo_relaxed.owl RF-ve CP|rheumatoid factor-negative polyarthritis|rheumatoid factor negative erosive chronic polyarthritis GARD:0003931|MESH:C538347|UMLS:C2931825 owl:Class MONDO:0004529 biolink:NamedThing non-ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. tmpak2llvmy_mondo_relaxed.owl nonossifying fibromyxoid tumor|nonossifying fibromyxoid neoplasm|nonossifying fibromyxoma NCIT:C6583|DOID:8305|UMLS:C1335063 owl:Class MONDO:0037745 biolink:NamedThing fibromyxoid tumor A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. tmpak2llvmy_mondo_relaxed.owl fibromyxoma|fibromyxoid neoplasm|fibromyxoma, benign|fibromyxoid tumor NCIT:C66760|ICDO:8811/0 owl:Class CHEBI:59174 biolink:NamedThing hapten Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. tmpak2llvmy_mondo_relaxed.owl haptens owl:Class MONDO:0016682 biolink:NamedThing giant cell glioblastoma A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) tmpak2llvmy_mondo_relaxed.owl Monstrocellular sarcoma [obs]|Monstrocellular sarcoma Orphanet:251579|NCIT:C4325|ICDO:9441/3|ICD10:C71.9|UMLS:C0334593|DOID:3074|UMLS:C0334588 owl:Class MONDO:0006027 biolink:NamedThing breast synovial sarcoma A synovial sarcoma (disease) that involves the breast. tmpak2llvmy_mondo_relaxed.owl breast synovial sarcoma (disease) EFO:1000019 owl:Class MONDO:0007759 biolink:NamedThing hyperlipidemia, familial combined, LPL related tmpak2llvmy_mondo_relaxed.owl hyperlipidemia, familial combined|familial combined hyperlipidemia|FCHL OMIM:144250 Editor note: the OMIM:144250 entry refers to the LPL-caused form owl:Class HGNC:10940 biolink:NamedThing SLC1A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100377 biolink:NamedThing acute myeloid leukemia, t(10;11)(p12;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.) tmpak2llvmy_mondo_relaxed.owl AML, t(10;11)(p12;q23) NCIT:C132101 owl:Class HGNC:8133 biolink:NamedThing OLR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0032016 biolink:NamedThing Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. tmpak2llvmy_mondo_relaxed.owl Abnormal sputum morphology 2018-08-25 12:36:36+00:00 peter human_phenotype owl:Class MONDO:0017023 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a granulomatous disease tmpak2llvmy_mondo_relaxed.owl secondary ILD specific to childhood associated with a granulomatous disease 2022-03-01 Orphanet:264714|UMLS:CN202336 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0015428 biolink:NamedThing choroidal atrophy-alopecia syndrome Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. tmpak2llvmy_mondo_relaxed.owl fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|regional choroidal atrophy and alopecia|choroidal atrophy alopecia|Moloney syndrome GARD:0003704|SCTID:720850008|UMLS:C2931026|MESH:C535810|Orphanet:1433 owl:Class MONDO:0018360 biolink:NamedThing neonatal lupus erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. tmpak2llvmy_mondo_relaxed.owl neonatal SLE|congenital lupus|neonatal lupus|neonatal systemic lupus erythematosus|neonatal lupus syndrome|congenital lupus erythematosus SCTID:95609003|MESH:C536397|Orphanet:398124|EFO:0004537|UMLS:C0409979|ICD10:M32.8|NCIT:C99236|GARD:0009563 owl:Class HP:0011146 biolink:NamedThing Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. tmpak2llvmy_mondo_relaxed.owl Behavioural arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. 2011-10-18T01:47:30Z human_phenotype owl:Class MONDO:0004488 biolink:NamedThing cervical atypical polypoid adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. tmpak2llvmy_mondo_relaxed.owl NCIT:C40234|UMLS:C1516409|DOID:8179 owl:Class MONDO:0003238 biolink:NamedThing cervical adenomyoma A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma. tmpak2llvmy_mondo_relaxed.owl cervical adenomyoma UMLS:C1516404|NCIT:C40231|DOID:4995 owl:Class MONDO:0006743 biolink:NamedThing endocrine tuberculosis Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl UMLS:C0041310|MESH:D014383|EFO:1000917 owl:Class ECTO:0000590 biolink:NamedThing exposure to vasodilator agent An exposure to vasodilator agent. tmpak2llvmy_mondo_relaxed.owl exposure to vasodilator agent owl:Class GO:0009309 biolink:NamedThing amine biosynthetic process The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpak2llvmy_mondo_relaxed.owl amine anabolism|amine biosynthesis|amine formation|amine synthesis owl:Class MONDO:0017585 biolink:NamedThing painful orbital and systemic neurofibromas-marfanoid habitus syndrome tmpak2llvmy_mondo_relaxed.owl multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus GARD:0011006|Orphanet:300501|UMLS:CN203391 https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome owl:Class MONDO:0016752 biolink:NamedThing benign peripheral nerve sheath tumor tmpak2llvmy_mondo_relaxed.owl BPNST UMLS:CN202000|Orphanet:252131 Editor note: consider relationship to granular cell tumor owl:Class MONDO:0100380 biolink:NamedThing acute myeloid leukemia, t(4;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.) tmpak2llvmy_mondo_relaxed.owl AML, t(4;11)(q21;q23)|AML, t(4;11)(q21;q23.3) owl:Class MONDO:0012027 biolink:NamedThing autoimmune disease, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl AIS2|vitiligo-associated multiple autoimmune disease susceptibility 3|autoimmune disease susceptibility locus, chromosome 7-related|autoimmune disease, susceptibility to, 2 OMIM:608391 owl:Class MONDO:0000294 biolink:NamedThing mesocestoidiasis An disease or disorder caused by infection with Mesocestoides. tmpak2llvmy_mondo_relaxed.owl Mesocestoides disease or disorder|infection by Mesocestoides|Mesocestoides infectious disease|infection caused by Mesocestoides|Mesocestoides caused disease or disorder UMLS:C0277110|UMLS:C0277108|SCTID:85750001|DOID:0050253 owl:Class MONDO:0004159 biolink:NamedThing pancreatic non-invasive mucinous cystadenocarcinoma A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. tmpak2llvmy_mondo_relaxed.owl UMLS:C1518874|DOID:7237|NCIT:C41245|ICDO:8470/2 owl:Class HGNC:6224 biolink:NamedThing KCNA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024857 biolink:NamedThing immature extragonadal teratoma An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpak2llvmy_mondo_relaxed.owl extragonadal primary malignant teratoma|malignant extragonadal teratoma|primary malignant extragonadal teratoma|immature extragonadal teratoma NCIT:C8884|UMLS:C0855163 owl:Class MONDO:0012874 biolink:NamedThing porokeratosis 6, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial|porokeratosis 6, disseminated superficial actinic type|POROK6|porokeratosis 6, multiple types MESH:C567339|UMLS:C2676508|OMIM:612353 owl:Class UBERON:0003422 biolink:NamedThing mesenchyme of umbilical cord A gelatinous substance within the umbilical cord, largely made up of mucopolysaccharides (hyaluronic acid and chondroitin sulfate). It also contains some fibroblasts and macrophages. It is derived from Extra Embryonic Mesoderm[WP] tmpak2llvmy_mondo_relaxed.owl umbilical cord mesenchyme|Wharton's jelly owl:Class MONDO:0019407 biolink:NamedThing microcephalic osteodysplastic dysplasia, Saul-Wilson type A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1. tmpak2llvmy_mondo_relaxed.owl microcephalic osteodysplastic dysplasia|microcephalic osteodysplastic dysplasia, Saul-Wilson type|Saul-Wilson syndrome|SWILS OMIM:618150|DOID:0111673|Orphanet:85172|ICD10:Q78.8 owl:Class MONDO:0019622 biolink:NamedThing non-specific interstitial pneumonia Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. tmpak2llvmy_mondo_relaxed.owl non-specific idiopathic interstitial pneumonia|nonspecific interstitial pneumonia|NSIP NCIT:C35717|SCTID:129452008|Orphanet:91364|DOID:2801|ICD9:516.8|ICD10:J84.8|UMLS:C1290344 owl:Class UBERON:0002119 biolink:NamedThing left ovary An ovary that is part of a left side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000975 biolink:NamedThing Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. tmpak2llvmy_mondo_relaxed.owl Sweating|Profuse sweating|Sweating, increased|Increased sweating|Diaphoresis|Sweating profusely|Excessive sweating SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|SNOMEDCT_US:312230002|UMLS:C0700590|SNOMEDCT_US:161857006|SNOMEDCT_US:52613005|SNOMEDCT_US:364538006|UMLS:C0020458|UMLS:C0038990|MSH:D006945|MEDDRA:10020642|MSH:D013546 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. HP:0001011|HP:0001064|HP:0007424 human_phenotype owl:Class MONDO:0002798 biolink:NamedThing childhood central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. tmpak2llvmy_mondo_relaxed.owl childhood central nervous system PNET|pediatric central nervous system primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of childhood|pediatric central nervous system primitive neuroectodermal neoplasm|pediatric CNS primitive neuroectodermal neoplasm|pediatric CNS PNET|pediatric central primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal tumor|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal tumor|childhood central primitive neuroectodermal tumor|childhood central nervous system primitive neuroectodermal neoplasm|Central nervous system embryonal tumor, NOS|pediatric CNS primitive neuroectodermal tumor|childhood CNS PNET UMLS:C1332957|DOID:3870|NCIT:C5961 owl:Class MONDO:0022647 biolink:NamedThing cardiomelic syndrome stratton Koehler type tmpak2llvmy_mondo_relaxed.owl GARD:0001099 https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type owl:Class MONDO:0017170 biolink:NamedThing idiopathic recurrent stupor Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. tmpak2llvmy_mondo_relaxed.owl UMLS:CN202595|SCTID:763739002|Orphanet:276174 owl:Class NCBITaxon:1933264 biolink:NamedThing California encephalitis orthobunyavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11572 biolink:NamedThing Orthobunyavirus tmpak2llvmy_mondo_relaxed.owl Bunyaviruses|Bunyavirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008262 biolink:NamedThing Poland syndrome Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. tmpak2llvmy_mondo_relaxed.owl Poland sequence|Poland syndactyly|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland's syndactyly|pectoralis muscle, absence of|Poland anomaly|Poland syndrome|Poland's syndrome OMIM:173800|GARD:0007412|Orphanet:2911|MedDRA:10036007|ICD10:Q79.8|NCIT:C85017|UMLS:C0032357|ICD9:756.89|MESH:D011045|DOID:12961|SCTID:38371006 https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome owl:Class UBERON:0015917 biolink:NamedThing superficial lymph node A lymph node that is located close to the surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022060 biolink:NamedThing calloso-genital dysplasia tmpak2llvmy_mondo_relaxed.owl primary amenorrhoea with coloboma and total agenesis of the corpus callosum UMLS:C2931677|MESH:C537962|GARD:0001055 https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia owl:Class MONDO:0001836 biolink:NamedThing amenorrhea The absence of menses in a woman who has achieved reproductive age. tmpak2llvmy_mondo_relaxed.owl amenorrhea (disease)|amenorrhea|amenia|absence of menstruation amenorrhea (disease) NCIT:C61443|ICD10:N91.2|UMLS:C0002453|ICD9:626.0|DOID:13938|MESH:D000568|HP:0000141 owl:Class MONDO:0007975 biolink:NamedThing meralgia paraesthetica, familial tmpak2llvmy_mondo_relaxed.owl meralgia paraesthetica, familial UMLS:C1835026|OMIM:156220|MESH:C563590 owl:Class MONDO:0009839 biolink:NamedThing progressive supranuclear palsy-parkinsonism syndrome PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpak2llvmy_mondo_relaxed.owl supranuclear palsy, progressive, 1, atypical|PSP-parkinsonism|Parkinson-dementia syndrome|PSP-p|atypical PSP|progressive supranuclear palsy atypical|Steele-Richardson-Olszewski syndrome, atypical Orphanet:240085|MESH:C537240|GARD:0004507|ICD10:G23.1|OMIM:260540|UMLS:CN201680 owl:Class NCBITaxon:43787 biolink:NamedThing Psychodomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007730 biolink:NamedThing histiocytic dermatoarthritis tmpak2llvmy_mondo_relaxed.owl histiocytic dermatoarthritis UMLS:C1840551|OMIM:142730|MESH:C564183 owl:Class MONDO:0013084 biolink:NamedThing neuroblastoma, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl NBLST4|neuroblastoma, susceptibility to, 4 OMIM:613015 owl:Class MONDO:0015838 biolink:NamedThing cordiform uterus tmpak2llvmy_mondo_relaxed.owl uterus arcuatus|uterus cordiformis SCTID:14689000|Orphanet:180118|ICD10:Q51.3 owl:Class MONDO:0015837 biolink:NamedThing Unicervical bicornuate uterus tmpak2llvmy_mondo_relaxed.owl Orphanet:180114|ICD10:Q51.3 owl:Class MONDO:0007825 biolink:NamedThing incisors, rotation of upper central tmpak2llvmy_mondo_relaxed.owl incisors, rotation of upper central OMIM:147350 owl:Class GO:2000849 biolink:NamedThing regulation of glucocorticoid secretion Any process that modulates the frequency, rate or extent of glucocorticoid secretion. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003262 biolink:NamedThing rhabdoid meningioma A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. tmpak2llvmy_mondo_relaxed.owl meningioma, rhabdoid (morphologic abnormality)|papillary meningioma (morphologic abnormality)|papillary meningioma|meningioma, rhabdoid|rhabdoid meningioma NCIT:C6909|UMLS:C0259786|DOID:5058|ONCOTREE:RHM owl:Class MONDO:0013740 biolink:NamedThing lethal occipital encephalocele-skeletal dysplasia syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. tmpak2llvmy_mondo_relaxed.owl RHFCA|radiohumeral fusions with other skeletal and craniofacial anomalies ICD10:Q87.5|Orphanet:293925|OMIM:614416|UMLS:C3280729 owl:Class UBERON:0003449 biolink:NamedThing tail intervertebral disc An intervertebral disk that is part of a tail [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tail intervertebral disk|tail spinal disc|intervertebral disk of post-ventral region|intervertebral disk of tail|intervertebral disc of tail|intervertebral disc of post-ventral region owl:Class CHEBI:17359 biolink:NamedThing sulfite A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). tmpak2llvmy_mondo_relaxed.owl SO3|trioxosulfate(2-)|sulfite|SULFITE ION|trioxosulfate(IV)|sulphite|SO3(2-)|[SO3](2-)|trioxidosulfate(2-) owl:Class MONDO:0020572 biolink:NamedThing complex regional pain syndrome type 2 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. tmpak2llvmy_mondo_relaxed.owl causalgia|CRPS II|Complex regional pain syndrome II|Complex regional pain syndrome, type II EFO:1000854|Orphanet:99994|SCTID:408751001|MedDRA:10064335|DOID:3222|MedDRA:10007825|UMLS:C0007462|NCIT:C121572|MESH:D002422|ICD10:G56.4 owl:Class MONDO:0004570 biolink:NamedThing intestinal volvulus Twisting of a loop of bowel that results in intestinal obstruction. tmpak2llvmy_mondo_relaxed.owl twist of intestine, bowel, or colon|intestinal volvulus|volvulus EFO:1000989|ICD10:K56.2|DOID:8445|ICD9:560.2|UMLS:C0042961|MESH:D045822|SCTID:9707006 owl:Class MONDO:0010039 biolink:NamedThing congenital heart defect-round face-developmental delay syndrome Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Sonoda syndrome|round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development UMLS:C0796162|MESH:C536680|GARD:0004905|OMIM:270460|Orphanet:1355|ICD10:Q87.8|SCTID:715987000 owl:Class CHEBI:29214 biolink:NamedThing sulfonic acid tmpak2llvmy_mondo_relaxed.owl [SHO2(OH)]|Sulfonsaeure|sulfonic acid|hydridohydroxidodioxidosulfur|acide sulfonique|sulphonic acid|HSHO3 owl:Class MONDO:0018308 biolink:NamedThing liver mesenchymal hamartoma A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. tmpak2llvmy_mondo_relaxed.owl liver MH|hepatic cystic hamartoma|liver mesenchymal hamartoma|mesenchymal hamartoma of liver|mesenchymal hamartoma of the liver|Von Meyenburg complexes disease|biliary hamartoma|hepatic mesenchymal hamartoma|VMC|MHL GARD:0002651|UMLS:C1333971|SCTID:715397000|Orphanet:386|UMLS:C0334091|NCIT:C5751|ICD10:D13.4 Editor note: in NCIT this is classified as non-neoplastic https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma owl:Class HGNC:15672 biolink:NamedThing ALG9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003990 biolink:NamedThing malignant breast myoepithelioma An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported. tmpak2llvmy_mondo_relaxed.owl breast myoepithelial carcinoma|malignant breast myoepithelioma|breast malignant myoepithelioma DOID:6776|NCIT:C40395|UMLS:C1518167 owl:Class UBERON:0002506 biolink:NamedThing iris epithelium An epithelium that is part of a iris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl iris pigmented epithelium|pigmented epithelium of iris|epithelium pigmentosum (iris)|epithelium of iris|iris epithelial tissue|epithelial tissue of iris|epithelium pigmentosum iridis|iris epithelium owl:Class MONDO:0013537 biolink:NamedThing autosomal recessive nonsyndromic deafness 29 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 29|autosomal recessive nonsyndromic deafness 29|deafness, autosomal recessive 29|autosomal recessive nonsyndromic deafness type 29|DFNB29|deafness, autosomal recessive type 29|CLDN14 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14 OMIM:614035|ICD10:H90.3|DOID:0110487|UMLS:C3279660 owl:Class MONDO:0007638 biolink:NamedThing fucosidase regulator tmpak2llvmy_mondo_relaxed.owl fucosidase regulator|Alpha-L-fucosidase regulator OMIM:136830 owl:Class MONDO:0019555 biolink:NamedThing panniculitis and localized lipodystrophy tmpak2llvmy_mondo_relaxed.owl panniculitis-induced localized lipodystrophy Orphanet:90159|UMLS:CN227651|ICD10:E88.1 owl:Class MONDO:0030953 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 tmpak2llvmy_mondo_relaxed.owl short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2|SSFSC2 OMIM:619184 owl:Class NCBITaxon:11584 biolink:NamedThing Phlebovirus tmpak2llvmy_mondo_relaxed.owl Phleboviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980418 biolink:NamedThing Phenuiviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012285 biolink:NamedThing left ventricular noncompaction 2 tmpak2llvmy_mondo_relaxed.owl LVNC2|left ventricular noncompaction 2 UMLS:C1836118|OMIM:609470 owl:Class MONDO:0100128 biolink:NamedThing coinfection The simultaneous infection of a host by multiple pathogen species. tmpak2llvmy_mondo_relaxed.owl UMLS:C0275524 http://orcid.org/0000-0001-5208-3432 owl:Class OGMS:0000061 biolink:NamedThing pathological bodily process A bodily process that is clinically abnormal. tmpak2llvmy_mondo_relaxed.owl creation date: 2009-06-23T11:54:29Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class OGMS:0000060 biolink:NamedThing bodily process A process in which at least one bodily component of an organsim participates. tmpak2llvmy_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060 creation date: 2009-06-23T11:53:49Z http://www.jbiomedsem.com/content/1/1/10 Albert Goldfain owl:Class HGNC:27424 biolink:NamedThing RBM20 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000021 biolink:NamedThing cutaneous appendage Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. tmpak2llvmy_mondo_relaxed.owl epidermal growth|skin appendage|epidermal appendage owl:Class UBERON:0003478 biolink:NamedThing vein of lower lip The inferior labial vein is the vein receiving blood from the lower lip. tmpak2llvmy_mondo_relaxed.owl lower lip vein|inferior labial vein|venae labiales inferiores|vena labialis inferior owl:Class MONDO:0015449 biolink:NamedThing criss-cross heart Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. tmpak2llvmy_mondo_relaxed.owl criss-cross atrioventricular relationships|twisted atrioventricular connections|superoinferior ventricles MESH:D003420|ICD9:746.89|Orphanet:1461|ICD10:Q24.8|SCTID:253269002 owl:Class CL:0002034 biolink:NamedThing long term hematopoietic stem cell A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. tmpak2llvmy_mondo_relaxed.owl LT stem cell|LT-HSC Markers are associated with mouse cells. tmeehan 2010-01-08T09:19:28Z cell owl:Class MONDO:0017734 biolink:NamedThing sialidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. tmpak2llvmy_mondo_relaxed.owl SCTID:38795005|MedDRA:10058800|ICD10:E77.1|Orphanet:309294 owl:Class HGNC:3143 biolink:NamedThing EBVS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004144 biolink:NamedThing fibrous meningioma A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. tmpak2llvmy_mondo_relaxed.owl fibroblastic meningioma|fibrous meningioma (morphologic abnormality) DOID:7211|NCIT:C4330|EFO:1000258|ICDO:9532/0|UMLS:C0334606 owl:Class OBO:CHR_9606-chr8q21 biolink:NamedThing chr8q21 (Human) tmpak2llvmy_mondo_relaxed.owl 92300000 72000000 hg38 owl:Class HGNC:16950 biolink:NamedThing STAMBP tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6692 biolink:NamedThing Pleocyemata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6683 biolink:NamedThing Decapoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2220 biolink:NamedThing COLEC10 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33675 biolink:NamedThing p-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. tmpak2llvmy_mondo_relaxed.owl p-block compounds|p-block molecular entities|p-block molecular entitiy owl:Class NCBITaxon:713 biolink:NamedThing Actinobacillus tmpak2llvmy_mondo_relaxed.owl PMID:1736960|GC_ID:11|PMID:15143001 ncbi_taxonomy owl:Class MONDO:0007357 biolink:NamedThing colonic varices without portal hypertension tmpak2llvmy_mondo_relaxed.owl colonic varices without portal hypertension UMLS:C1852721|MESH:C565172|OMIM:120440 owl:Class MONDO:0013320 biolink:NamedThing chromosome 16p12.2-p11.2 deletion syndrome 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Del(16)(p11.2p12.2)|chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|16p11.2-p12.2 microdeletion syndrome|monosomy 16p11.2-p12.2|monosomy 16p11.2p12.2|16p11.2p12.2 microdeletion syndrome OMIM:613604|DOID:0060400|Orphanet:261211|SCTID:719576009|UMLS:C3150858|UMLS:C4304597|ICD10:Q93.5 owl:Class MONDO:0001992 biolink:NamedThing rete testis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the rete testis tmpak2llvmy_mondo_relaxed.owl carcinoma, rete testis, malignant|adenocarcinoma of the rete testis|rete testis adenocarcinoma|adenocarcinoma of rete testis NCIT:C8955|DOID:14544|UMLS:C0863024 owl:Class MONDO:0004871 biolink:NamedThing perianal hematoma tmpak2llvmy_mondo_relaxed.owl Thrombosed external hemorrhoids|external thrombosed haemorrhoids DOID:9745|ICD10:K64.5|ICD9:455.4|SCTID:26373009 owl:Class GO:0071495 biolink:NamedThing cellular response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044877 biolink:NamedThing paraneoplastic cerebellar degeneration A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. tmpak2llvmy_mondo_relaxed.owl paraneoplastic cerebellar Degeneration NCIT:C4685 owl:Class NCIT:C35681 biolink:NamedThing Negative Test Result tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007383 biolink:NamedThing Stern-Lubinsky-Durrie syndrome Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, epithelial, with skin and skeletal changes|Stern Lubinsky Durrie syndrome|CORNEODERMATOOSSEOUS syndrome|corneo-dermato-osseous syndrome|Cdo syndrome|corneal dystrophy epithelial and short stature SCTID:723584003|OMIM:122440|GARD:0001531|ICD10:H18.5|Orphanet:3194|MESH:C537488 owl:Class MONDO:0018001 biolink:NamedThing inverse Klippel-Trenaunay syndrome tmpak2llvmy_mondo_relaxed.owl inverse Klippel-Trénaunay syndrome|cutaneous hemangioma with muscle or bone atrophy UMLS:CN204209|ICD10:Q87.2|Orphanet:329324 owl:Class MONDO:0003023 biolink:NamedThing aorta angiosarcoma A malignant vascular neoplasm arising from the aorta. tmpak2llvmy_mondo_relaxed.owl aortic hemangiosarcoma|aorta angiosarcoma (disease)|aortic angiosarcoma|angiosarcoma (disease) of aorta|angiosarcoma of aorta|hemangiosarcoma of aorta|angiosarcoma of the aorta|hemangiosarcoma of the aorta NCIT:C5376|UMLS:C1332312|DOID:4510 owl:Class MONDO:0007719 biolink:NamedThing diaphragmatic hernia, congenital 1 tmpak2llvmy_mondo_relaxed.owl diaphragm, unilateral agenesis of|hemidiaphragm, agenesis of|diaphragmatic hernia, congenital|diaphragmatic defect, congenital|DIH1|hernia, congenital diaphragmatic|diaphragm, complete agenesis of|diaphragmatic hernia 1 OMIM:142340 owl:Class MONDO:0003895 biolink:NamedThing periosteal osteogenic sarcoma An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. tmpak2llvmy_mondo_relaxed.owl periosteal osteosarcoma (morphologic abnormality)|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma|periosteal osteogenic sarcoma|PEOS ICDO:9193/3|UMLS:C1377843|DOID:6489|ONCOTREE:PEOS|NCIT:C8970 owl:Class MONDO:0002628 biolink:NamedThing peripheral osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpak2llvmy_mondo_relaxed.owl peripheral osteosarcoma|bone surface (peripheral) osteosarcoma|surface osteosarcoma UMLS:C1332591|DOID:3374|NCIT:C7134 owl:Class MONDO:0033656 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 21 tmpak2llvmy_mondo_relaxed.owl MC4DN21 OMIM:619065 owl:Class HGNC:6143 biolink:NamedThing ITGA7 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000014 biolink:NamedThing Abnormality of the bladder An abnormality of the urinary bladder. tmpak2llvmy_mondo_relaxed.owl UMLS:C0149632 human_phenotype owl:Class MONDO:0004219 biolink:NamedThing polyvesicular vitelline pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. tmpak2llvmy_mondo_relaxed.owl testicular yolk Sac tumor, polyvesicular vitelline pattern UMLS:C1515311|NCIT:C39930|DOID:7435 owl:Class CL:1000416 biolink:NamedThing myoepithelial cell of lactiferous gland A myoepithelial cell that is part of the mammary gland. tmpak2llvmy_mondo_relaxed.owl basal cell of lactiferous duct FMA:67800|CALOHA:TS-2378 cell owl:Class MONDO:0020554 biolink:NamedThing Heiner syndrome Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. tmpak2llvmy_mondo_relaxed.owl cow's milk hypersensitivity SCTID:707441009|Orphanet:99932|ICD10:E83.1+|UMLS:CN207456|ICD9:518.89|ICD10:J99.8* owl:Class MONDO:0020553 biolink:NamedThing secondary pulmonary hemosiderosis Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography tmpak2llvmy_mondo_relaxed.owl ICD10:E83.1+|UMLS:C4274326|Orphanet:99930|SCTID:716712004|ICD10:J99.8* owl:Class GO:1903729 biolink:NamedThing regulation of plasma membrane organization Any process that modulates the frequency, rate or extent of plasma membrane organization. tmpak2llvmy_mondo_relaxed.owl regulation of plasma membrane organization and biogenesis|regulation of plasma membrane organisation owl:Class OBO:CARO_0001000 biolink:NamedThing multi-cell-part structure tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0029147 biolink:NamedThing spermatogenic failure 33 tmpak2llvmy_mondo_relaxed.owl SPERMATOGENIC FAILURE 33|SPGF33 OMIM:618152 owl:Class MONDO:0009135 biolink:NamedThing anemia, congenital dyserythropoietic, type 1a tmpak2llvmy_mondo_relaxed.owl CDAN1A|CDA Ia|anemia, congenital dyserythropoietic, type 1|dyserythropoietic Anemia, congenital, type Ia|anemia, congenital dyserythropoietic, type Ia|anemia, congenital dyserythropoietic, type 1a OMIM:224120|DOID:0111398 owl:Class CHEBI:23014 biolink:NamedThing carbon oxide tmpak2llvmy_mondo_relaxed.owl oxides of carbon|carbon oxides owl:Class MONDO:0008341 biolink:NamedThing ptosis-strabismus-ectopic pupils syndrome Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl ptosis strabismus ectopic pupils|ptosis, strabismus, and ectopic pupils|McPherson-Hall syndrome Orphanet:2999|GARD:0004577|UMLS:C1867437|MESH:C566736|OMIM:178330 owl:Class MONDO:0002620 biolink:NamedThing localized osteosarcoma A non-disseminated osteosarcoma. tmpak2llvmy_mondo_relaxed.owl osteosarcoma, localized|localized osteosarcoma|localized osteogenic sarcoma DOID:3356|NCIT:C7780|UMLS:C0278511 owl:Class UBERON:0002304 biolink:NamedThing layer of dentate gyrus One of the three layers of the dentate gyrus of the hippocampal formation. tmpak2llvmy_mondo_relaxed.owl dentate gyrus layer|dentate gyrus cell layer owl:Class MONDO:0003096 biolink:NamedThing deep hemangioma A hemangioma arising from the deep soft tissues. tmpak2llvmy_mondo_relaxed.owl deep hemangioma|deep angioma NCIT:C6555|DOID:469|UMLS:C1333265 owl:Class MONDO:0010437 biolink:NamedThing severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. tmpak2llvmy_mondo_relaxed.owl COXPD6|combined oxidative phosphorylation deficiency 6|encephalomyopathy, mitochondrial, X-linked|combined oxidative phosphorylation deficiency type 6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|mitochondrial encephalomyopathy due to COXPD6 UMLS:C3151753|UMLS:C4302745|DOID:0111502|ICD10:G31.8|OMIM:300816|Orphanet:238329|SCTID:722212004 owl:Class MONDO:0100319 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in adults A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia). tmpak2llvmy_mondo_relaxed.owl MIS-A http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018175 biolink:NamedThing combined deficiency of factor V and factor VIII Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. tmpak2llvmy_mondo_relaxed.owl FV and FVIII combined deficiency|combined deficiency of factor V and factor type VIII|familial multiple coagulation factor deficiency|F5F8D SCTID:715559004|Orphanet:35909|ICD10:D68.8|UMLS:C1856883 owl:Class MONDO:0007643 biolink:NamedThing gamma-A-globulin, defect in assembly of tmpak2llvmy_mondo_relaxed.owl gamma-A-globulin, defect in ASSEMBLY OF|IgA, defect in Assembly of|Immunoglobulin A, defect in Assembly of OMIM:137050|UMLS:C1850934|MESH:C564991 owl:Class HGNC:12591 biolink:NamedThing UROD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002882 biolink:NamedThing colon neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl colonic neuroendocrine neoplasm|neuroendocrine tumor of the colon|colon neuroendocrine tumor|colon neuroendocrine neoplasm|colon NET|colonic neuroendocrine tumor|colon neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of the colon|neuroendocrine neoplasm of colon Orphanet:100080|NCIT:C5697|UMLS:C1333097|DOID:4118 owl:Class MONDO:0045040 biolink:NamedThing locational disease characteristic tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011806 biolink:NamedThing osteofibrous dysplasia A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. tmpak2llvmy_mondo_relaxed.owl OSFD|OFD|cortical fibrous dysplasia|Kempson-Campanacci lesion|ossifying fibroma of long bones|osteofibrous dysplasia|tibia, bowing of, with pseudarthrosis and pectus excavatum|osteofibrous dysplasia of bone|osteofibrous dysplasia, susceptibility to NCIT:C53970|UMLS:C1709353|Orphanet:488265|OMIM:609143|MESH:C563787|MESH:C563276|UMLS:C1836723|OMIM:607278 owl:Class MONDO:0014193 biolink:NamedThing primary ciliary dyskinesia 23 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. tmpak2llvmy_mondo_relaxed.owl ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia type 23|primary ciliary dyskinesia caused by mutation in ARMC4|ciliary dyskinesia, primary, 23|ciliary dyskinesia, primary, 23, with or without situs inversus|primary ciliary dyskinesia 23 with or without situs inversus|CILD23 ICD10:Q34.8|DOID:0110609|UMLS:C3809548|OMIM:615451 owl:Class MONDO:0004644 biolink:NamedThing subacute monocytic leukemia tmpak2llvmy_mondo_relaxed.owl ICD9:206.2|UMLS:C0152275|ICD9:206.20|SCTID:188746008|DOID:8696 owl:Class HGNC:21686 biolink:NamedThing RNASET2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010658 biolink:NamedThing syndromic X-linked intellectual disability 12 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. tmpak2llvmy_mondo_relaxed.owl syndromic X-linked intellectual disability type 12|intellectual disability, X-linked, syndromic 12|MRXS12|X-linked intellectual disability, Wilson type|mental retardation, X-linked, syndromic 12 SCTID:719009006|DOID:0060804|OMIM:309545|UMLS:C1839792|Orphanet:85290|ICD10:Q87.8|MESH:C564106 owl:Class GO:1903284 biolink:NamedThing positive regulation of glutathione peroxidase activity Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity. tmpak2llvmy_mondo_relaxed.owl activation of glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|up-regulation of reduced glutathione peroxidase activity|up regulation of GSH peroxidase activity|upregulation of selenium-glutathione peroxidase activity|positive regulation of non-selenium glutathione peroxidase activity|activation of GSH peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|enhancement of GPX activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|up-regulation of GSH peroxidase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of reduced glutathione peroxidase activity|activation of reduced glutathione peroxidase activity|upregulation of reduced glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|up regulation of non-selenium glutathione peroxidase activity|positive regulation of reduced glutathione peroxidase activity|up-regulation of glutathione peroxidase activity|upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of non-selenium glutathione peroxidase activity|activation of selenium-glutathione peroxidase activity|positive regulation of GSH peroxidase activity|up regulation of glutathione peroxidase activity|positive regulation of selenium-glutathione peroxidase activity|upregulation of GSH peroxidase activity|up regulation of selenium-glutathione peroxidase activity owl:Class HGNC:25557 biolink:NamedThing PRMT7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005375 biolink:NamedThing spinal cord ventral column the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure tmpak2llvmy_mondo_relaxed.owl spinal cord anterior column|ventral column|anterior column owl:Class GO:0120255 biolink:NamedThing olefinic compound biosynthetic process The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpak2llvmy_mondo_relaxed.owl alkene substituted compound biosynthesis|alkene substituted compound synthesis|alkene substituted compound anabolism|alkene substituted compound anabolic process|alkene substituted compound biosynthetic process owl:Class MONDO:0001585 biolink:NamedThing hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. tmpak2llvmy_mondo_relaxed.owl ICD10:F16.1|DOID:12797|SCTID:74851005|ICD9:305.3 owl:Class MONDO:0011453 biolink:NamedThing ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia tmpak2llvmy_mondo_relaxed.owl ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia MESH:C565783|UMLS:C1858422|OMIM:604380 owl:Class HGNC:6341 biolink:NamedThing KISS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024559 biolink:NamedThing AAT1 tmpak2llvmy_mondo_relaxed.owl aneurysm, thoracic aortic|aortic dissection, familial|aortic aneurysm, familial thoracic|annuloaortic ectasia|FAA1|aortic aneurysm, familial thoracic 1|AAT1|Erdheim cystic medial necrosis of aorta OMIM:607086 owl:Class HGNC:25712 biolink:NamedThing PGAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022666 biolink:NamedThing cassavism tmpak2llvmy_mondo_relaxed.owl GARD:0010442 https://rarediseases.info.nih.gov/diseases/10442/cassavism owl:Class MONDO:0044355 biolink:NamedThing isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. tmpak2llvmy_mondo_relaxed.owl isolated SCCH SCTID:766711009|Orphanet:178311|ICD10:M85.8|UMLS:C0020499 owl:Class UBERON:0008346 biolink:NamedThing duodenal epithelium An epithelium that is part of a duodenum. tmpak2llvmy_mondo_relaxed.owl epithelium of duodenum owl:Class UBERON:0013636 biolink:NamedThing epithelium of intestinal villus A epithelium that is part of a intestinal villus. tmpak2llvmy_mondo_relaxed.owl villous epithelium|intestinal villus epithelium|villus epithelium owl:Class NCBITaxon:481 biolink:NamedThing Neisseriaceae tmpak2llvmy_mondo_relaxed.owl Vitreoscillaceae PMID:23575986|PMID:16350128|PMID:13983561|GC_ID:11|PMID:8347509 ncbi_taxonomy owl:Class MONDO:0014693 biolink:NamedThing Noonan syndrome 10 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. tmpak2llvmy_mondo_relaxed.owl LZTR1 Noonan syndrome|Noonan syndrome 10|NS10|Noonan syndrome caused by mutation in LZTR1|Noonan syndrome type 10 UMLS:C4225280|DOID:0060588|OMIM:616564 owl:Class GO:0032230 biolink:NamedThing positive regulation of synaptic transmission, GABAergic Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpak2llvmy_mondo_relaxed.owl upregulation of synaptic transmission, GABAergic|up-regulation of synaptic transmission, GABAergic|stimulation of synaptic transmission, GABAergic|up regulation of synaptic transmission, GABAergic|activation of synaptic transmission, GABAergic owl:Class GO:0032228 biolink:NamedThing regulation of synaptic transmission, GABAergic Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:64459 biolink:NamedThing biaryl An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond. tmpak2llvmy_mondo_relaxed.owl biaryls owl:Class MONDO:0030893 biolink:NamedThing leukoencephalopathy, progressive, infantile-onset, with or without deafness tmpak2llvmy_mondo_relaxed.owl LEPID OMIM:619147 owl:Class MONDO:0011427 biolink:NamedThing Ascaris lumbricoides infection, susceptibility to tmpak2llvmy_mondo_relaxed.owl ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to OMIM:604291 owl:Class MONDO:0010252 biolink:NamedThing intellectual disability, X-linked, with panhypopituitarism tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, with panhypopituitarism|mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with panhypopituitarism OMIM:300123 owl:Class MONDO:0042971 biolink:NamedThing congenital herpes virus infection An infectious embryofetopathy caused by infection with Herpesviridae. tmpak2llvmy_mondo_relaxed.owl congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae infectious embryofetopathy|Herpesviridae caused infectious embryofetopathy GARD:0002669|SCTID:715337002|GARD:0002670|UMLS:C4275250 owl:Class NCBITaxon:52651 biolink:NamedThing Chabertiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7198 biolink:NamedThing Phlebotominae tmpak2llvmy_mondo_relaxed.owl sandflies|sand flies GC_ID:1|PMID:9835021 ncbi_taxonomy owl:Class MONDO:0018430 biolink:NamedThing partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN226145|Orphanet:401959 owl:Class MONDO:0001059 biolink:NamedThing gastric lymphoma An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpak2llvmy_mondo_relaxed.owl primary gastric lymphoma|lymphoma of stomach|lymphoma of the stomach|gastric lymphoma|stomach lymphoma NCIT:C4636|DOID:10540|SCTID:276811008|ICD9:202.83|UMLS:C0349532 owl:Class MONDO:0017152 biolink:NamedThing pulmonary arterial hypertension associated with congenital heart disease Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. tmpak2llvmy_mondo_relaxed.owl PAH associated with congenital heart disease 2022-03-01 EFO:0009054|UMLS:C3697119|UMLS:CN243982|ICD9:416.8|ICD10:I27.2|SCTID:697905000|Orphanet:275803 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0010420 biolink:NamedThing X-linked erythropoietic protoporphyria X-linked form of erythropoietic protoporphyria. tmpak2llvmy_mondo_relaxed.owl protoporphyria, erythropoietic, X-linked|erythropoietic protoporphyria, X-linked|XLEPP|protoporphyria, erythropoietic, X-linked dominant|X-linked dominant protoporphyria|XLPP|X-linked dominant erythropoietic protoporphyria|Erythrohepatic protoporphyria, X-linked|XLDPP|XLP OMIM:300752|GARD:0010915|Orphanet:443197|ICD10:E80.0|MESH:C567464 owl:Class GO:0098644 biolink:NamedThing complex of collagen trimers A complex of collagen trimers such as a fibril or collagen network. tmpak2llvmy_mondo_relaxed.owl Supramolecular aggregate of collagen|Supramolecular collagen assembly owl:Class MONDO:0004221 biolink:NamedThing uterine corpus perivascular epithelioid cell tumor A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. tmpak2llvmy_mondo_relaxed.owl uterine corpus PEComa|body of uterus neoplasm with perivascular epithelioid cell differentiation|uterine corpus perivascular epithelioid cell tumor|uterine perivascular epithelioid cell tumor|uterus perivascular epithelioid cell tumor NCIT:C40180|ONCOTREE:UPECOMA|UMLS:C1519862|DOID:7437 owl:Class ECTO:9002021 biolink:NamedThing exposure to astringent An exposure to astringent. tmpak2llvmy_mondo_relaxed.owl exposure to astringent owl:Class MONDO:0017298 biolink:NamedThing acute zonal occult outer retinopathy Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. tmpak2llvmy_mondo_relaxed.owl AZOOR SCTID:312929003|Orphanet:284454|MESH:C538223|ICD9:362.10|UMLS:C0730298|GARD:0008640 https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy owl:Class MONDO:0006092 biolink:NamedThing appendix villous adenoma An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia. tmpak2llvmy_mondo_relaxed.owl villous adenoma of the appendix|appendix villous adenoma|vermiform appendix villous adenoma|villous adenoma of appendix EFO:1000093|UMLS:C1332329|NCIT:C5512 owl:Class MONDO:0003771 biolink:NamedThing jugular foramen meningioma A meningioma that affects the jugular foramen. tmpak2llvmy_mondo_relaxed.owl meningioma (disease) of jugular foramen|jugular foramen meningioma (disease)|meningioma of jugular Foramen|meningioma of the jugular Foramen DOID:6110|NCIT:C5293|UMLS:C1334298 owl:Class MONDO:0020445 biolink:NamedThing agenesis of the superior vena cava Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. tmpak2llvmy_mondo_relaxed.owl agenesis of the superior caval vein|absence of the superior vena cava|agenesis of the SVC|absence of the superior caval vein|absence of the SVC ICD10:Q26.8|Orphanet:99114|SCTID:204464007|ICD9:747.49 owl:Class MONDO:0045037 biolink:NamedThing hyalohyphomycosis An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. tmpak2llvmy_mondo_relaxed.owl hyalohyphomycosis UMLS:C0343952|SCTID:240773008|MESH:D060605 owl:Class HP:0002047 biolink:NamedThing Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. tmpak2llvmy_mondo_relaxed.owl Malignant hyperthermia with anaesthesia|Malignant hyperthermia with anesthesia UMLS:C0024591|SNOMEDCT_US:405501007|SNOMEDCT_US:213026003|MSH:D008305 HP:0004896 human_phenotype owl:Class HP:0004370 biolink:NamedThing Abnormality of temperature regulation An abnormality of temperature homeostasis. tmpak2llvmy_mondo_relaxed.owl Body temperature changes|Abnormality of temperature regulation|Poor temperature regulation UMLS:C1832160|MSH:D001832|UMLS:C0005904 peter 2008-03-18T06:34:00Z human_phenotype owl:Class MONDO:0009209 biolink:NamedThing autosomal recessive faciodigitogenital syndrome Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. tmpak2llvmy_mondo_relaxed.owl Aarskog-like syndrome|Teebi-Naguib-Alawadi syndrome|facio-digito-genital syndrome, Kuwait type|faciodigitogenital syndrome, autosomal recessive|Kuwait type faciodigitogenital syndrome Orphanet:1974|OMIM:227330|ICD10:Q87.8 owl:Class MONDO:0013865 biolink:NamedThing mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. tmpak2llvmy_mondo_relaxed.owl mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency|MTO1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation defect type 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|combined oxidative phosphorylation deficiency type 10|combined oxidative phosphorylation deficiency caused by mutation in MTO1|combined oxidative phosphorylation deficiency 10|COXPD10 ICD10:I42.2|OMIM:614702|Orphanet:314637|UMLS:C3553529|DOID:0111480 owl:Class MONDO:0018257 biolink:NamedThing familial syringomyelia An instance of syringomyelia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary syringomyelia UMLS:CN204832|ICD10:Q06.4|Orphanet:370034 owl:Class MONDO:0017987 biolink:NamedThing syringomyelia Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). tmpak2llvmy_mondo_relaxed.owl hydromyelia Orphanet:3280|MedDRA:10042928|MESH:D013595|SCTID:111496009|DOID:327|ICD10:Q06.4|UMLS:C0039144|GARD:0007725|ICD10:G95.0|NCIT:C85179 https://rarediseases.info.nih.gov/diseases/7725/syringomyelia owl:Class HP:0033127 biolink:NamedThing Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. tmpak2llvmy_mondo_relaxed.owl 2020-09-05 13:35:03+00:00 peter human_phenotype owl:Class CHEBI:76740 biolink:NamedThing EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*. tmpak2llvmy_mondo_relaxed.owl oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|EC 1.13.* inhibitors|EC 1.13.* inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor owl:Class MONDO:0009827 biolink:NamedThing pachyonychia congenita, autosomal recessive tmpak2llvmy_mondo_relaxed.owl pachyonychia congenita, autosomal recessive OMIM:260130|UMLS:C1850103|MESH:C538094 Editor note: we currently classify PC as AD owl:Class MONDO:0014046 biolink:NamedThing Cowden syndrome 4 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. tmpak2llvmy_mondo_relaxed.owl Cowden syndrome 4|Cowden syndrome type 4|KLLN Cowden disease|CWS4|Cowden disease caused by mutation in KLLN UMLS:C3554517|OMIM:615107 owl:Class MONDO:0016896 biolink:NamedThing partial deletion of the short arm of chromosome 18 tmpak2llvmy_mondo_relaxed.owl partial deletion of the short arm of chromosome type 18|partial deletion of chromosome 18p|partial monosomy of the short arm of chromosome 18|partial monosomy of chromosome 18p 2021-01-01 Orphanet:261974|ICD10:Q93.5 Reason: duplicate. This will be merged with MONDO:0007800 chromosome 18p deletion syndrome owl:Class MONDO:0007125 biolink:NamedThing ankyloglossia A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. tmpak2llvmy_mondo_relaxed.owl ankyloglossia|tongue-tie|FUSED to floor of mouth|'tongue-Tie' MESH:C562396|ICD9:750.0|NCIT:C124538|DOID:0060604|SCTID:67787004|ICD10:Q38.1|OMIM:106280 owl:Class MONDO:0008487 biolink:NamedThing polycystic ovary syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. tmpak2llvmy_mondo_relaxed.owl multicystic ovaries|Stein-Leventhal synd.|polycystic ovaries|polycystic ovary syndrome 1|Pcos|polycystic ovarian disease|hyperandrogenemia|Stein-Leventhal syndrome|PCOS1|Pco1|polycystic ovary|polycystic ovary syndrome|PCOS ICD9:256.4|MESH:D011085|ICD10:E28.2|NCIT:C26862|OMIM:184700|UMLS:C0032460|SCTID:69878008|EFO:0000660|DOID:11612 owl:Class MONDO:0001897 biolink:NamedThing bilateral hyperactive labyrinth tmpak2llvmy_mondo_relaxed.owl hyperactive bilateral labyrinthine dysfunction|hyperactive labyrinth, bilateral UMLS:C0155516|ICD9:386.52|SCTID:194373002|DOID:14165 owl:Class MONDO:0006447 biolink:NamedThing testicular non-seminomatous germ cell tumor A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. tmpak2llvmy_mondo_relaxed.owl non-seminomatous germ cell tumor of testis|non-dysgerminomatous germ cell tumor of testis|testicular non-seminomatous germ cell tumor|testicular germ cell tumor non-seminomatous|testicular non seminomatous germ cell tumor|testicular non-dysgerminomatous germ cell tumor NCIT:C9313|EFO:1000570|UMLS:CN204702|Orphanet:363494|DOID:4086|UMLS:C1336724|ICDO:9065/3|ICD10:C62.1 owl:Class MONDO:0014670 biolink:NamedThing lethal congenital contracture syndrome 9 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene. tmpak2llvmy_mondo_relaxed.owl ADGRG6 lethal congenital contracture syndrome|lethal congenital contracture syndrome 9|LCCS9|lethal congenital contracture syndrome caused by mutation in ADGRG6|lethal congenital contracture syndrome type 9 UMLS:C4225303|OMIM:616503 owl:Class NCBITaxon:197911 biolink:NamedThing Alphainfluenzavirus tmpak2llvmy_mondo_relaxed.owl Influenzavirus A GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11152 biolink:NamedThing Turkey coronavirus tmpak2llvmy_mondo_relaxed.owl Turkey enteric coronavirus|TCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694014 biolink:NamedThing Avian coronavirus tmpak2llvmy_mondo_relaxed.owl ACoV GC_ID:1 ncbi_taxonomy owl:Class HGNC:7605 biolink:NamedThing MYO6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032772 biolink:NamedThing brain abnormalities, neurodegeneration, and dysosteosclerosis tmpak2llvmy_mondo_relaxed.owl BANDDOS|BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS OMIM:618476 owl:Class MONDO:0015753 biolink:NamedThing cap myopathy Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. tmpak2llvmy_mondo_relaxed.owl Cap disease|congenital myopathy with caps ICD10:G71.2|SCTID:703532002|UMLS:C3710589|GARD:0011915|Orphanet:171881|MESH:C579969 https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy owl:Class MONDO:0010402 biolink:NamedThing syndromic X-linked intellectual disability 94 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 94|syndromic X-linked mental retardation 29|syndromic X-linked intellectual disability due to GRIA3 anomalies|intellectual disability, X-linked, syndromic, Wu type|MRXSW|mental retardation, X-linked, syndromic 29|intellectual disability, X-linked 94|syndromic X-linked intellectual disability type 94|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability Wu type|MRX94|syndromic X-linked intellectual disability 29|mental retardation, X-linked, syndromic, Wu type|intellectual disability, X-linked, syndromic 29|MRXS29|syndromic X-linked intellectual disability 94 DOID:0060823|UMLS:C2678051|MESH:C567479|ICD10:F72|OMIM:300699 owl:Class HP:0007858 biolink:NamedThing Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. tmpak2llvmy_mondo_relaxed.owl Lacunar retinal depigmentation UMLS:C4072866|UMLS:C1844751 A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. HP:0007786 human_phenotype owl:Class HP:0000532 biolink:NamedThing Abnormal chorioretinal morphology An abnormality of the choroid and retina. tmpak2llvmy_mondo_relaxed.owl Chorioretinal abnormality UMLS:C4025844 The choroid is the vascular layer of the eye, located between the retina and the sclera. HP:0007888|HP:0001145 human_phenotype owl:Class MONDO:0100364 biolink:NamedThing genital herpes simplex type 1 infectious disease Any herpes simplex type 1 infectious disease that involves the genitals. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0010264 biolink:NamedThing X-linked adrenal hypoplasia congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl X-linked congenital adrenal hypoplasia|AHC|mineralocorticoid deficiency, isolated|adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|cytomegalic adrenocortical hypoplasia|X-linked adrenal hypoplasia congenita|X-linked AHC|AHC with isolated gonadotropin deficiency|AHC with HHG|cytomegalic congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|adrenal hypoplasia, congenital, with precocious puberty|congenital adrenal hypoplasia|adrenal hypoplasia congenita|Addison disease, X-linked|adrenal hypoplasia, congenital Orphanet:95702|SCTID:93235007|UMLS:C0342482|GARD:0000555|NCIT:C123725|OMIM:300200|ICD10:E27.1|DOID:0080156 owl:Class HGNC:2731 biolink:NamedThing DDR2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:162474 biolink:NamedThing Malasseziales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1538075 biolink:NamedThing Malasseziomycetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0022803 biolink:NamedThing passive transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. tmpak2llvmy_mondo_relaxed.owl facilitated diffusion|uniporter activity z|porters owl:Class NCBITaxon:662 biolink:NamedThing Vibrio tmpak2llvmy_mondo_relaxed.owl Microspira|Beneckea|Pacinia|Listonella PMID:21057054|PMID:8590667|PMID:21296930|PMID:17978204|PMID:24409173|PMID:7520733|GC_ID:11|PMID:1371064|PMID:4935323 NCBITaxon:705 ncbi_taxonomy owl:Class GO:0007036 biolink:NamedThing vacuolar calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005222 biolink:NamedThing liver left lobe parenchyma A parenchyma that is part of a left lobe of liver [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl parenchyma of left lobe of liver owl:Class GO:0045760 biolink:NamedThing positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpak2llvmy_mondo_relaxed.owl up regulation of action potential|activation of action potential|upregulation of action potential|stimulation of action potential|up-regulation of action potential owl:Class MONDO:0001684 biolink:NamedThing exocrine pancreatic insufficiency Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. tmpak2llvmy_mondo_relaxed.owl pancreatic insufficiency|exocrine pancreas insufficiency|exocrine pancreatic insufficiency ICD9:577.8|MESH:D010188|ICD10:K86.81|SCTID:47367009|DOID:13316|UMLS:C0267963|NCIT:C84316 owl:Class MONDO:0008253 biolink:NamedThing platelet aggregation, spontaneous tmpak2llvmy_mondo_relaxed.owl platelet aggregation, spontaneous MESH:C566800|UMLS:C1868263|OMIM:173400 owl:Class HP:0002493 biolink:NamedThing Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. tmpak2llvmy_mondo_relaxed.owl Pyramidal tract dysfunction|Corticospinal tract dysfunction UMLS:C1504405|UMLS:C1839042 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). human_phenotype owl:Class ENVO:01000032 biolink:NamedThing neritic pelagic zone biome The neritic epipelagic zone biome comprises the marine water column above a continental shelf. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008004 biolink:NamedThing familial mitral valve prolapse An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl mitral valve prolapse, familial, autosomal dominant|MVP|mitral valve prolapse, familial|hereditary mitral valve prolapse (disease) GARD:0003687|ICD10:I34.1|SCTID:233858000|Orphanet:741|OMIMPS:157700 owl:Class MONDO:0011547 biolink:NamedThing cataract 31 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene. tmpak2llvmy_mondo_relaxed.owl cataract 31, multiple types|cataract, posterior polar, 3|CTPP3|posterior polar cataract 3|early-onset non-syndromic cataract caused by mutation in CHMP4B|CPP3|CTRCT31|CHMP4B early-onset non-syndromic cataract DOID:0110265|GARD:0010227|OMIM:605387|MESH:C535343|ICD10:Q12.0 owl:Class MONDO:0012858 biolink:NamedThing primary CD59 deficiency tmpak2llvmy_mondo_relaxed.owl CD59 deficiency|primary CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy|HACD59 OMIM:612300|MESH:C567355|ICD10:D84.1|Orphanet:169464|UMLS:C2676767 owl:Class MONDO:0019466 biolink:NamedThing lymphomatoid granulomatosis Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. tmpak2llvmy_mondo_relaxed.owl LYG ICD10:C83.8|NCIT:C7930|ICDO:9766/1|Orphanet:86869|UMLS:C0024307|MedDRA:10025325|SCTID:239940004|ONCOTREE:LYG|MESH:D008230|GARD:0006943 https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis owl:Class MONDO:0015790 biolink:NamedThing central diabetes insipidus Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). tmpak2llvmy_mondo_relaxed.owl neurogenic diabetes insipidus|diabetes insipidus neurohypophyseal|CDI|diabetes insipidus neurogenic|diabetes insipidus cranial type HP:0000863|ICD10:E23.2|MedDRA:10068587|Orphanet:178029|GARD:0006015 owl:Class MONDO:0011023 biolink:NamedThing hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. tmpak2llvmy_mondo_relaxed.owl hereditary mixed polyposis syndrome|HMPS UMLS:CN240759|MESH:C563365|Orphanet:157794|ICD10:D12.6|OMIMPS:601228|DOID:0111684 owl:Class HGNC:15864 biolink:NamedThing RBCK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009345 biolink:NamedThing histidinemia Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. tmpak2llvmy_mondo_relaxed.owl histidinuria|Histidinuria|histidine ammonia-lyase deficiency|histidase deficiency|hyperhistidinemia|histidinemia|HIS deficiency|Hal deficiency SCTID:410058007|OMIM:235800|DOID:0060168|ICD10:E70.8|UMLS:C0220992|ICD10:E70.41|Orphanet:2157|GARD:0006661|MESH:C538320 https://rarediseases.info.nih.gov/diseases/6661/histidinemia owl:Class HP:0012532 biolink:NamedThing Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. tmpak2llvmy_mondo_relaxed.owl Long-lasting pain|Chronic pain MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001 Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. peter 2013-12-15T09:46:55Z human_phenotype owl:Class MONDO:0019799 biolink:NamedThing hepatoerythropoietic porphyria Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. tmpak2llvmy_mondo_relaxed.owl hep NCIT:C84754|ICD10:E80.2|MESH:D017121|GARD:0006169|UMLS:C0162569|SCTID:111386004|Orphanet:95159|DOID:5230 owl:Class MONDO:0012630 biolink:NamedThing Alzheimer disease 13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. tmpak2llvmy_mondo_relaxed.owl AD13|Alzheimer's disease 13|Alzheimer disease 13|Alzheimer's disease type 13 UMLS:C1970147|ICD10:G30|DOID:0110046|MESH:C567000|OMIM:611152 owl:Class MONDO:0017731 biolink:NamedThing glycoproteinosis tmpak2llvmy_mondo_relaxed.owl Orphanet:309279|ICD10:E77.9|ICD10:E77.8|ICD10:E77.1|ICD10:E77.0|GARD:0010670 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis owl:Class MONDO:0007393 biolink:NamedThing cranioacrofacial syndrome tmpak2llvmy_mondo_relaxed.owl Cranioacrofacial syndrome OMIM:122850|Orphanet:1339|MESH:C565147|UMLS:C1852512 owl:Class MONDO:0017246 biolink:NamedThing extralobar congenital pulmonary sequestration tmpak2llvmy_mondo_relaxed.owl extralobar congenital bronchopulmonary sequestration|congenital extrapulmonary sequestration Orphanet:280811|ICD10:Q33.2 owl:Class GO:1904255 biolink:NamedThing negative regulation of iron ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity. tmpak2llvmy_mondo_relaxed.owl down-regulation of iron channel activity|down-regulation of iron cation channel activity|down regulation of iron channel activity|negative regulation of iron channel activity|negative regulation of iron cation channel activity|negative regulation of iron-specific channel activity|inhibition of iron channel activity|inhibition of iron-specific channel activity|inhibition of iron cation channel activity|downregulation of iron cation channel activity|down-regulation of iron-specific channel activity|downregulation of iron-specific channel activity|down regulation of iron cation channel activity|down regulation of iron-specific channel activity|downregulation of iron channel activity owl:Class MONDO:0007933 biolink:NamedThing vitelliform macular dystrophy 1 tmpak2llvmy_mondo_relaxed.owl VMD1|macular dystrophy, atypical vitelliform|vitelliform macular dystrophy, atypical|macular dystrophy, vitelliform, 1 GARD:0010120|MESH:C537832|OMIM:153840 owl:Class HGNC:2615 biolink:NamedThing CYP2B6 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:451870 biolink:NamedThing Chaetothyriomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0051180 biolink:NamedThing vitamin transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl vitamin or cofactor transport owl:Class MONDO:0010660 biolink:NamedThing intellectual disability, X-linked 9 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked type 9|non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|mental retardation, X-linked type 9|mental retardation, X-linked 44|intellectual disability, X-linked 9|mental retardation, X-linked 9|FTSJ1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 44|MRX9 UMLS:C0796215|MESH:C563137|OMIM:309549 owl:Class MONDO:0011155 biolink:NamedThing vacuolar Neuromyopathy tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy OMIM:601846|MESH:C566617|UMLS:C1866139 owl:Class HGNC:11551 biolink:NamedThing BRF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009854 biolink:NamedThing peroneus tertius muscle, absence of tmpak2llvmy_mondo_relaxed.owl peroneus tertius muscle, absence of OMIM:261400 owl:Class GO:0045579 biolink:NamedThing positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation. tmpak2llvmy_mondo_relaxed.owl activation of B cell differentiation|stimulation of B cell differentiation|positive regulation of B-cell differentiation|up regulation of B cell differentiation|positive regulation of B lymphocyte differentiation|upregulation of B cell differentiation|positive regulation of B cell development|positive regulation of B-lymphocyte differentiation|up-regulation of B cell differentiation owl:Class MONDO:0014592 biolink:NamedThing microcephaly and chorioretinopathy 3 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. tmpak2llvmy_mondo_relaxed.owl microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy type 3|MCCRP3|TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, type 3 UMLS:C4225362|DOID:0080107|OMIM:616335 owl:Class HGNC:6317 biolink:NamedThing KIF1C tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002916 biolink:NamedThing central sulcus The central sulcus is a fold in the cerebral cortex of brains in vertebrates. Also called the central fissure, it was originally called the fissure of Rolando or the Rolandic fissure, after Luigi Rolando. The central sulcus is a prominent landmark of the brain, separating the parietal lobe from the frontal lobe and the primary motor cortex from the primary somatosensory cortex. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl sulcus centralis cerebri|CS|fissure of Rolando|sulcus centralis (rolandi)|central sulcus of Rolando|sulcus centralis|central fissure|rolandic fissure|central cerebral sulcus|sulcus of Rolando owl:Class MONDO:0019489 biolink:NamedThing diffuse palmoplantar keratoderma - acrocyanosis syndrome Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. tmpak2llvmy_mondo_relaxed.owl diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome UMLS:CN206272|Orphanet:86918|ICD10:Q82.8 owl:Class HGNC:8772 biolink:NamedThing PDE10A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25439 biolink:NamedThing TANGO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011209 biolink:NamedThing progeroid facial appearance with hand anomalies tmpak2llvmy_mondo_relaxed.owl progeroid facial appearance with hand anomalies UMLS:C1865699|OMIM:602249|MESH:C566563 owl:Class MONDO:0009270 biolink:NamedThing genito-palato-cardiac syndrome Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. tmpak2llvmy_mondo_relaxed.owl Gardner-Silengo-Wachtel syndrome|genito palato cardiac syndrome|GENITOPALATOCARDIAC syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect UMLS:C1856466|OMIM:231060|ICD10:Q87.8|Orphanet:2075|GARD:0002460|MESH:C537683 https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome owl:Class MONDO:0019153 biolink:NamedThing brain malformation-congenital heart disease-postaxial polydactyly syndrome Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. tmpak2llvmy_mondo_relaxed.owl Goossens-Devriendt syndrome UMLS:C4303545|SCTID:717943008|ICD10:Q87.8|Orphanet:75389 owl:Class MONDO:0001720 biolink:NamedThing gonococcal synovitis An synovitis (disease) caused by infection with Neisseria gonorrhoeae. tmpak2llvmy_mondo_relaxed.owl gonococcal synovitis or tenosynovitis|gonococcal synovitis and tenosynovitis|gonococcal synovitis &/or tenosynovitis UMLS:C0275662|UMLS:C0343714|ICD9:098.51|DOID:13454|SCTID:266138002 owl:Class MONDO:0020762 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 2 tmpak2llvmy_mondo_relaxed.owl DMJDS2|spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia OMIM:618646 owl:Class HGNC:4189 biolink:NamedThing GCDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022618 biolink:NamedThing burning mouth syndrome type 3 tmpak2llvmy_mondo_relaxed.owl type 3 burning mouth syndrome|BMS-3|Psychiatric disorders coexisting with burning mouth syndrome MESH:C537413|GARD:0008558|UMLS:C2931487 https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 owl:Class MONDO:0006687 biolink:NamedThing burning mouth syndrome A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. tmpak2llvmy_mondo_relaxed.owl stomatodynia|BMS|Stomatopyrosis|oral dysesthesia|Orodynia GARD:0005974|SCTID:399165002|ICD10:K14.6|MESH:D002054|UMLS:C2930806|UMLS:C0006430|Orphanet:353253|EFO:1000850|NCIT:C62545|DOID:4331|UMLS:CN242089|MedDRA:10068065 owl:Class MONDO:0003068 biolink:NamedThing postauricular lymphadenitis Inflammation of the postauricular lymph nodes. tmpak2llvmy_mondo_relaxed.owl lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease) DOID:4638|UMLS:C0919638|NCIT:C27332 owl:Class HGNC:5141 biolink:NamedThing HP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044777 biolink:NamedThing premature ovarian failure 14 tmpak2llvmy_mondo_relaxed.owl GDF9-related primary ovarian insufficiency|premature ovarian failure 14|POF14 GTR:AN1172965|UMLS:CN753759|UMLS:CN757793|OMIM:618014 owl:Class MONDO:0044699 biolink:NamedThing SIN3A-related intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:500163 owl:Class HGNC:5433 biolink:NamedThing IFNAR2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2560195 biolink:NamedThing Orthorubulavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001722 biolink:NamedThing central pterygium tmpak2llvmy_mondo_relaxed.owl UMLS:C0155156|ICD9:372.43|SCTID:43300008|DOID:13473 owl:Class MONDO:0032938 biolink:NamedThing basal ganglia calcification, idiopathic, 8, autosomal recessive tmpak2llvmy_mondo_relaxed.owl IBGC8|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM:618824 owl:Class UBERON:0008522 biolink:NamedThing nasal muscle Any muscle organ that is part of an nose. tmpak2llvmy_mondo_relaxed.owl muscle of nose owl:Class HGNC:8646 biolink:NamedThing PCBD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006565 biolink:NamedThing juvenile dermatitis herpetiformis Dermatitis herpetiformis in children tmpak2llvmy_mondo_relaxed.owl UMLS:C0152092|DOID:8507|ICD9:694.2|ICD10:L12.2|SCTID:5906000|EFO:1000719 owl:Class MONDO:0015614 biolink:NamedThing dermatitis herpetiformis Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. tmpak2llvmy_mondo_relaxed.owl dermatitis herpetiformis|Duhring's disease|dermatosis herpetiformis|Durhing-Brocq disease SCTID:111196000|Orphanet:1656|DOID:8505|NCIT:C26742|ICD10:L13.0|MedDRA:10012468|EFO:1000684|Wikipedia:Dermatitis_herpetiformis|UMLS:C0011608|ICD9:694.0|MESH:D003874 owl:Class MONDO:0010685 biolink:NamedThing myopia 1, X-linked tmpak2llvmy_mondo_relaxed.owl myopia 1, X-linked|MYP1 MESH:C564091|OMIM:310460|UMLS:C1839612 owl:Class MONDO:0014776 biolink:NamedThing spinocerebellar ataxia type 42 tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 42|SCA42|spinocerebellar ataxia 42 Orphanet:458803|EFO:0009059|DOID:0111742|NCIT:C171269|ICD10:G11.8|OMIM:616795|UMLS:C4225205 owl:Class HGNC:12449 biolink:NamedThing TYROBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001465 biolink:NamedThing superficial keratitis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155074|SCTID:27019000|ICD10:H16.10|DOID:12196|ICD9:370.20 owl:Class MONDO:0021718 biolink:NamedThing polyneuritis Inflammation of several peripheral nerves. tmpak2llvmy_mondo_relaxed.owl Polyneuritis|Polyneuritides|Multiple neuritis|polyneuritis|Inflammatory polyneuropathy|inflammatory polyneuropathy GTR:AN1355640|UMLS:C0032541|SCTID:76886005|GTR:AN1353837|NCIT:C26864|HP:0031003 owl:Class MONDO:0007895 biolink:NamedThing platyspondylic dysplasia, Torrance type tmpak2llvmy_mondo_relaxed.owl PLSDT|thanatophoric dysplasia Torrance variant|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia Torrance type|PLSD-T|Platyspondylic lethal skeletal dysplasia, Luton type|lethal short-limbed Platyspondylic dwarfism, Torrance type|thanatophoric dysplasia, Torrance variant|platyspondylic dysplasia, Torrance type|Platyspondylic lethal skeletal dysplasia, Torrance type|lethal short-limbed Platyspondylic dwarfism Torrance type|thanatophoric dysplasia, Luton variant ICD10:Q77.8|OMIM:151210|UMLS:C1835437|MESH:C563627|GARD:0004382|DOID:0111508|Orphanet:85166 owl:Class ENVO:01001022 biolink:NamedThing natural lake A lake which has formed as the result of processes that are not or are only minimally driven by human activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007574 biolink:NamedThing spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia and erythrokeratodermia|Giroux Barbeau syndrome|SCA34|erythrokeratodermia - ataxia|spinocerebellar ataxia type 34|erythrokeratodermia with ataxia|spinocerebellar ataxia 34 MESH:C535738|DOID:0050981|SCTID:719255000|Orphanet:1955|OMIM:133190|UMLS:C1851481|GARD:0000059|ICD10:G11.1 owl:Class MONDO:0008275 biolink:NamedThing familial expansile osteolysis tmpak2llvmy_mondo_relaxed.owl FEO|familial expansile osteolysis|polyostotic osteolytic dysplasia, hereditary expansile|McCabe disease|Mccabe disease|HEPOD|hereditary expansile polyostotic osteolytic dysplasia|expansile osteolysis, familial|EOF|osteolysis, familial expansile OMIM:174810|DOID:0111542|SCTID:254153009|Orphanet:85195|GARD:0009168|MESH:C536335|ICD10:M89.5|ICD9:756.9 owl:Class MONDO:0004414 biolink:NamedThing tamoxifen-related endometrial lesion A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. tmpak2llvmy_mondo_relaxed.owl tamoxifen-related endometrial disorder DOID:7962|UMLS:C1515212|NCIT:C40159 owl:Class NCBITaxon:4891 biolink:NamedThing Saccharomycetes tmpak2llvmy_mondo_relaxed.owl Hemiascomycetes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147537 biolink:NamedThing Saccharomycotina tmpak2llvmy_mondo_relaxed.owl true yeasts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021660 biolink:NamedThing deep seated dermatophytosis A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. tmpak2llvmy_mondo_relaxed.owl deep seated dermatophytosis NCIT:C35073|UMLS:C1395264 owl:Class MONDO:0009559 biolink:NamedThing mandibulofacial dysostosis with mental deficiency tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis with intellectual disability|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency OMIM:248400|UMLS:C1855432|MESH:C565420 owl:Class MONDO:0001186 biolink:NamedThing depersonalization disorder A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. tmpak2llvmy_mondo_relaxed.owl neurotic derealization ICD9:300.6|NCIT:C94331|DOID:11038|GARD:0006260|SCTID:70764005 https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder owl:Class MONDO:0030362 biolink:NamedThing Aicardi-Goutieres syndrome 9 tmpak2llvmy_mondo_relaxed.owl AGS9|Aicardi-Goutieres syndrome 9 OMIM:619487 owl:Class UBERON:0013750 biolink:NamedThing metaphysis of tibia A metaphysis that is part of a tibia. tmpak2llvmy_mondo_relaxed.owl tibial metaphysis owl:Class HP:0004297 biolink:NamedThing Abnormality of the biliary system An abnormality of the biliary system. tmpak2llvmy_mondo_relaxed.owl UMLS:C0940767 peter 2008-02-20T11:34:00Z human_phenotype owl:Class MONDO:0016777 biolink:NamedThing inhalational botulism Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). tmpak2llvmy_mondo_relaxed.owl inhalation botulism Orphanet:254504|UMLS:C1443900|SCTID:409562009|ICD10:A05.1 owl:Class MONDO:0005645 biolink:NamedThing ancylostomiasis Infection by hookworms of the genus Ancylostoma. tmpak2llvmy_mondo_relaxed.owl hookworm infection|Ancylostoma caused disease or disorder|Ancylostoma infectious disease|Ancylostoma duodenale infection|Ancylostoma disease or disorder ICD9:126.8|ICD10:B76.9|MedDRA:10020376|SCTID:63479002|GARD:0009742|EFO:0007145|ICD10:B76.1|UMLS:C0002831|MedDRA:10002255|ICD9:126.9|ICD10:B76.0|MESH:D000724|ICD10:B76.8|DOID:12841|MONDO:0019184|NCIT:C35805|Orphanet:78 owl:Class GO:1901861 biolink:NamedThing regulation of muscle tissue development Any process that modulates the frequency, rate or extent of muscle tissue development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032766 biolink:NamedThing hypoalphalipoproteinemia, primary, 2 tmpak2llvmy_mondo_relaxed.owl Apolipoprotein A-I Deficiency|HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|High Density Lipoprotein Deficiency OMIM:618463 owl:Class MONDO:0009601 biolink:NamedThing metaphyseal dysplasia without hypotrichosis tmpak2llvmy_mondo_relaxed.owl metaphyseal dysplasia without hypotrichosis|cartilage-hair hypoplasia variant, skeletal manifestations only|cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|MDWH|CHHV MESH:C563574|Orphanet:1838|OMIM:250460|GARD:0010622|UMLS:C1834821 https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis owl:Class HGNC:7683 biolink:NamedThing NDUFA1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:147538 biolink:NamedThing Pezizomycotina tmpak2llvmy_mondo_relaxed.owl Euascomycota GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016392 biolink:NamedThing mastoid lymph node The mastoid lymph nodes (retroauricular lymph nodes, posterior auricular glands), usually two in number, are situated on the mastoid insertion of the Sternocleidomastoideus, beneath the Auricularis posterior. Their afferent vessels drain the posterior part of the temporoparietal region, the upper part of the cranial surface of the auricula or pinna, and the back of the external acoustic meatus; their efferents pass to the superior deep cervical glands. tmpak2llvmy_mondo_relaxed.owl retro-auricular lymph node|retro-auricular node|posterior auricular glands|mastoid glands|retroauricular lymph nodes|mastoid node|postauricular lymph node owl:Class CHEBI:63510 biolink:NamedThing EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of Na(+)/K(+)-transporting ATPase (EC 3.6.3.9). tmpak2llvmy_mondo_relaxed.owl Na(+)/K(+)-pump inhibitors|Na(+)/K(+)-transporting ATPase inhibitors|sodium-potassium adenosine triphosphatase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium pump inhibitor|Na(+)/K(+)-ATPase inhibitor|sodium-potassium pump inhibitor|sodium pump inhibitors|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor|Na(+)/K(+)-transporting ATPase inhibitor|Na(+)/K(+)-ATPase inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|Na(+)/K(+)-pump inhibitor|sodium-potassium pump inhibitors|EC 3.6.3.9 inhibitors owl:Class CHEBI:76895 biolink:NamedThing EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*). tmpak2llvmy_mondo_relaxed.owl acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|EC 3.6.3.* inhibitors|EC 3.6.3.* inhibitor owl:Class HGNC:5948 biolink:NamedThing IGSF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019977 biolink:NamedThing parkinsonism with dementia of Guadeloupe Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206908|ICD10:F02.3*|SCTID:715737004|ICD10:G20+|Orphanet:97355 owl:Class HGNC:4208 biolink:NamedThing GCSH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017377 biolink:NamedThing preaxial polydactyly-colobomata-intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Pfeiffer Mayer syndrome|Pfeiffer-Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities GARD:0004304|ICD10:Q87.2|SCTID:733088002|MESH:C537888|UMLS:C2931655|Orphanet:2921 owl:Class HGNC:914 biolink:NamedThing B2M tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007877 biolink:NamedThing laryngeal adductor paralysis tmpak2llvmy_mondo_relaxed.owl vocal cord dysfunction, adductor type|LAP|laryngeal adductor paralysis MESH:C562861|OMIM:150270 owl:Class HGNC:20492 biolink:NamedThing COA8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033620 biolink:NamedThing myofibrillar myopathy 10 tmpak2llvmy_mondo_relaxed.owl MFM10 OMIM:619040 owl:Class MONDO:0012178 biolink:NamedThing intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature tmpak2llvmy_mondo_relaxed.owl mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature|intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature UMLS:C1836915|MESH:C563810|OMIM:609037 owl:Class MONDO:0002153 biolink:NamedThing telogen effluvium A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. tmpak2llvmy_mondo_relaxed.owl UMLS:C0263518|ICD9:704.02|DOID:1943|SCTID:39479004|NCIT:C112200|ICD10:L65.0 owl:Class MONDO:0001197 biolink:NamedThing qualitative platelet defect tmpak2llvmy_mondo_relaxed.owl qualitative platelet deficiency|qualitative platelet defect ICD10:D69.1|DOID:11125|SCTID:267532001|ICD9:287.1|UMLS:C0235604 owl:Class NCBITaxon:6200 biolink:NamedThing Eucestoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008666 biolink:NamedThing volvulus of midgut A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. tmpak2llvmy_mondo_relaxed.owl intestinal malrotation|volvulus of midgut|congenital malrotation of intestine|intestinal malrotation, familial MESH:C562456|SCTID:458422009|NCIT:C98961|OMIM:193250 owl:Class MONDO:0006211 biolink:NamedThing fibrous hamartoma of infancy A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. tmpak2llvmy_mondo_relaxed.owl fibrous hamartoma|infantile fibrous hamartoma|fibrous hamartoma of infancy ICD9:215.9|EFO:1000257|NCIT:C3942|SCTID:56364004|UMLS:C0265979 owl:Class MONDO:0024478 biolink:NamedThing mesenchymal hamartoma tmpak2llvmy_mondo_relaxed.owl mesenchymal hamartoma UMLS:C0334090|NCIT:C40427 owl:Class GO:0015723 biolink:NamedThing bilirubin transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010579 biolink:NamedThing X-linked corneal dermoid X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. tmpak2llvmy_mondo_relaxed.owl corneal dermoids and short stature|Guízar Vázquez-Luengas-muñoz syndrome|bilateral corneal dermoids|CND|Guizar-Vazquez Luengas-Munoz syndrome|corneal dystrophy epithelial-short stature syndrome|dermoids of cornea OMIM:304730|GARD:0002580|MESH:C535376|UMLS:C1844671|Orphanet:1661|SCTID:715426004|ICD10:Q13.4 https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea owl:Class HGNC:18085 biolink:NamedThing TMEM199 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18249 biolink:NamedThing KCTD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003305 biolink:NamedThing cellular neurofibroma A neurofibroma characterized by the presence of areas with increased cellularity. tmpak2llvmy_mondo_relaxed.owl cellular neurofibroma NCIT:C41427|DOID:5152|UMLS:C1516371 owl:Class UBERON:0035048 biolink:NamedThing parotid gland excretory duct Any of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100210 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation tmpak2llvmy_mondo_relaxed.owl OMIMPS:245590 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0700087 biolink:NamedThing Usher syndrome type 1B Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene tmpak2llvmy_mondo_relaxed.owl MESH:C536485|OMIM:276900 owl:Class CL:0002103 biolink:NamedThing IgG-positive double negative memory B cell An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative. tmpak2llvmy_mondo_relaxed.owl IgG+ double negative memory B-cell|IgG+ dn memory B-cell|IgG-positive dn memory B-lymphocyte|IgG-positive dn memory B lymphocyte|IgG+ dn memory B cell|IgG-positive dn memory B cell|IgG-positive double negative memory B-cell|IgG-positive double negative memory B-lymphocyte|IgG+ dn memory B-lymphocyte|IgG+ double negative memory B-lymphocyte|IgG+ dn memory B lymphocyte|IgG+ double negative memory B lymphocyte|IgG+ double negative memory B cell|IgG-positive dn memory B-cell|IgG-positive double negative memory B lymphocyte cell owl:Class MONDO:0009469 biolink:NamedThing benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. tmpak2llvmy_mondo_relaxed.owl benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1|cholestasis, benign recurrent intrahepatic, type 1|mild ATP8B1 deficiency|cholestasis, benign recurrent intrahepatic, 1|BRIC1|Summerskill syndrome|Bric type 1|benign recurrent intrahepatic cholestasis 1|recurrent familial intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic 1|ATP8B1 benign recurrent intrahepatic cholestasis OMIM:243300|Orphanet:99960|ICD10:K83.1|DOID:0070231|GARD:0010028 https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 owl:Class MONDO:0007285 biolink:NamedThing cataract 1 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene. tmpak2llvmy_mondo_relaxed.owl CTRCT1|CAE1|cataract (disease) caused by mutation in GJA8|CZP1|GJA8 cataract (disease)|cataract 1, multiple types|cataract 1, multiple types, with or without microcornea|Duffy linked cataract|zonular pulverulent cataract 1|cataract, Duffy-linked|cataract, zonular pulverulent, 1 DOID:0110231|OMIM:116200|MESH:C566158|ICD10:Q12.0|UMLS:C1861828 owl:Class MONDO:0001822 biolink:NamedThing hypolipoproteinemia Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). tmpak2llvmy_mondo_relaxed.owl hypolipoproteinemia|hypolipoproteinaemia|hypolipoproteinemia (disease)|lipoprotein deficiencies hypolipoproteinemia (disease) ICD10:E78.6|GARD:0008394|HP:0010981|MESH:D007009|SCTID:363140000|ICD9:272.5|DOID:1387 owl:Class UBERON:0019196 biolink:NamedThing iliac artery endothelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008989 biolink:NamedThing citrulline transport defect tmpak2llvmy_mondo_relaxed.owl citrulline transport defect GARD:0009949|OMIM:215720|MESH:C536207|UMLS:C1859084 https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect owl:Class MONDO:0012427 biolink:NamedThing Loeys-Dietz syndrome 2 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. tmpak2llvmy_mondo_relaxed.owl Loeys-Dietz syndrome type II|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome type 2|Loeys-Dietz syndrome 2|LDS2|Loeys-Dietz syndrome caused by mutation in TGFBR2|aortic aneurysm, familial thoracic 3|Marfan syndrome, type II|TGFBR2 Loeys-Dietz syndrome MESH:C537783|OMIM:610168|GARD:0010586|NCIT:C114768|DOID:0070234 owl:Class MONDO:0002375 biolink:NamedThing sebaceous adenoma A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. tmpak2llvmy_mondo_relaxed.owl adenoma of the sebaceous gland|adenoma, sebaceous, benign|sebaceous gland adenoma|skin appendage sebaceous adenoma|adenoma of sebaceous gland|sebaceous adenoma (morphologic abnormality) DOID:2648|UMLS:C1368816|NCIT:C4174|ICDO:8410/0 owl:Class MONDO:0017140 biolink:NamedThing L1 syndrome L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. tmpak2llvmy_mondo_relaxed.owl L1 syndrome|L1CAM syndrome|corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|crash syndrome UMLS:CN118845|GARD:0012524|ICD10:Q04.8|Orphanet:275543 owl:Class MONDO:0007375 biolink:NamedThing epithelial basement membrane dystrophy tmpak2llvmy_mondo_relaxed.owl anterior basement membrane dystrophy|microcystic dystrophy of the cornea|Map-dot-fingerprint dystrophy|corneal dystrophy, microcystic|Map-dot-fingerprint dystrophy of cornea|EBMD|Cogan corneal dystrophy|corneal dystrophy, Map-Dot-Fingerprint type|epithelial basement membrane corneal dystrophy|corneal dystrophy, anterior basement Membrane|Cogan microcystic epithelial dystrophy|corneal dystrophy, epithelial basement MEMBRANE|microcystic corneal dystrophy ICD10:H18.5|SCTID:373426005|Orphanet:98956|GARD:0009732|DOID:0060447|MESH:C535477|OMIM:121820 owl:Class CL:0009024 biolink:NamedThing mesothelial cell of small intestine A mesothelial cell that is part of the small intestine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018481 biolink:NamedThing undifferentiated carcinoma of esophagus An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. tmpak2llvmy_mondo_relaxed.owl esophagus undifferentiated carcinoma|undifferentiated esophageal cancer|undifferentiated esophageal carcinoma|esophageal undifferentiated carcinoma ICD10:C15.5|UMLS:CN237469|NCIT:C27422|ICD10:C15.3|ICD10:C15.1|ICD10:C15.8|UMLS:C2188058|Orphanet:418951|ICD10:C15.0|ICD10:C15.2|ICD10:C15.4 owl:Class MONDO:0010475 biolink:NamedThing X-linked central congenital hypothyroidism with late-onset testicular enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. tmpak2llvmy_mondo_relaxed.owl CHTE|X-linked central congenital hypothyroidism with late-onset macroorchidism|hypothyroidism, central, and testicular enlargement|central hypothyroidism and testicular enlargement|IGSF1 deficiency syndrome|hypothyroidism Central and testicular enlargement|Immunoglobulin superfamily member 1 deficiency syndrome|X-linked central congenital hypothyroidism with late-onset testicular enlargement Orphanet:329235|DOID:0111140|UMLS:C3550963|ICD10:E03.1|OMIM:300888|NCIT:C130989 owl:Class MONDO:0022568 biolink:NamedThing bidirectional tachycardia tmpak2llvmy_mondo_relaxed.owl bidirectional ventricular tachycardia UMLS:C2930902|MESH:C535438|GARD:0000878 https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia owl:Class HGNC:387 biolink:NamedThing AKR1C4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014680 biolink:NamedThing distal interphalangeal joint of digit 5 A distal interphalangeal joint that is part of a digit 5. tmpak2llvmy_mondo_relaxed.owl distal interphalangeal joint of digit V|distal interphalangeal joint 5 owl:Class MONDO:0015252 biolink:NamedThing severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome tmpak2llvmy_mondo_relaxed.owl severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome|intellectual disability - athetosis - microphthalmia|intellectual disability-athetosis-microphthalmia syndrome|BD syndrome GARD:0003482|UMLS:CN237422|Orphanet:1236 https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia owl:Class MONDO:0008617 biolink:NamedThing inflammatory bowel disease 11 An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22. tmpak2llvmy_mondo_relaxed.owl IBD11|inflammatory bowel disease 11|inflammatory bowel disease type 11 DOID:0110894|OMIM:191390|MESH:C567154|UMLS:C2674051 owl:Class MONDO:0005307 biolink:NamedThing contracture Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. tmpak2llvmy_mondo_relaxed.owl muscle contracture EFO:0003899|MESH:D003286 owl:Class MONDO:0015967 biolink:NamedThing monogenic diabetes Rare genetic diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl rare genetic diabetes mellitus|monogenic diabetes Orphanet:183625 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:0014070 biolink:NamedThing response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpak2llvmy_mondo_relaxed.owl response to organic cyclic substance owl:Class MONDO:0001443 biolink:NamedThing tympanosclerosis The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. tmpak2llvmy_mondo_relaxed.owl DOID:1214|SCTID:23606001|ICD9:385.09|ICD9:385.00|MESH:D063371|ICD10:H74.0 owl:Class GO:0042362 biolink:NamedThing fat-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpak2llvmy_mondo_relaxed.owl fat-soluble vitamin biosynthesis|fat-soluble vitamin formation|fat-soluble vitamin synthesis|fat-soluble vitamin anabolism owl:Class OBO:OBA_VT0010454 biolink:NamedThing organism trait The quality when measured in multicellular organism. tmpak2llvmy_mondo_relaxed.owl multicellular organism quality owl:Class OBO:OBA_0100003 biolink:NamedThing anatomical entity attribute The quality of a anatomical entity. tmpak2llvmy_mondo_relaxed.owl quality of anatomical entity owl:Class MONDO:0010458 biolink:NamedThing hypospadias 4, X-linked tmpak2llvmy_mondo_relaxed.owl HYSP4|hypospadias 4, X-linked, susceptibility to OMIM:300856 owl:Class MONDO:0042493 biolink:NamedThing gastric non-hodgkin lymphoma An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpak2llvmy_mondo_relaxed.owl stomach lymphoma, non-Hodgkins type|gastric non-Hodgkin's lymphoma|gastric non-Hodgkin lymphoma|non-Hodgkin's lymphoma of the stomach|non-Hodgkin's lymphoma of stomach|non-Hodgkin lymphoma of stomach|non-Hodgkins gastric lymphoma|primary gastric non-Hodgkin's lymphoma|lymphoma, gastric non Hodgkins type|stomach non-Hodgkin lymphoma UMLS:C1333784|GARD:0000089|SCTID:448709005|NCIT:C27235 owl:Class ENVO:01000755 biolink:NamedThing aeroform A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28033 biolink:NamedThing CCDC174 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000393 biolink:NamedThing partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. tmpak2llvmy_mondo_relaxed.owl UMLS:C3661483|DOID:0050666 owl:Class MONDO:0006459 biolink:NamedThing thymoma type B1 A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors. tmpak2llvmy_mondo_relaxed.owl thymoma type B1|organoid thymoma|lymphocyte-predominant thymoma|thymoma, organoid|predominantly cortical thymoma|lymphocyte-rich thymoma EFO:1000584|UMLS:C1266094|DOID:6917|NCIT:C6887|ICDO:8583/1 MONDO:0004036 owl:Class MONDO:0008905 biolink:NamedThing predisposition to invasive fungal disease due to CARD9 deficiency tmpak2llvmy_mondo_relaxed.owl CARD9 deficiency|candidiasis, familial, type 2|CANDF2|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 2|candidiasis familial chronic mucocutaneous, autosomal recessive|invasive candidiasis-deep dermatophytosis syndrome|CARD9 immunodeficiency GARD:0001077|OMIM:212050|UMLS:C1859353|Orphanet:457088|ICD10:D84.8 owl:Class MONDO:0018599 biolink:NamedThing congenital oculomotor nerve palsy tmpak2llvmy_mondo_relaxed.owl congenital CNIII lesion|congenital third cranial nerve palsy Orphanet:440221|ICD10:Q07.8 owl:Class MONDO:0013165 biolink:NamedThing hereditary spastic paraplegia 45 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia type 65|SPG45|hereditary spastic paraplegia type 45|SPG65|spastic paraplegia 45, autosomal recessive|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|autosomal recessive spastic paraplegia 45|autosomal recessive spastic paraplegia type 45|NT5C2 autosomal recessive complex spastic paraplegia UMLS:CN203996|SCTID:765753004|Orphanet:320396|ICD10:G11.4|DOID:0110797|OMIM:613162 owl:Class MONDO:0024519 biolink:NamedThing renal hypodysplasia/aplasia 1 tmpak2llvmy_mondo_relaxed.owl renal hypodysplasia/aplasia 1|Selig Benacerraf Greene syndrome|renal adysplasia|renal dysplasia, megalocystis, and sirenomelia|hereditary renal aplasia|renal aplasia|renal agenesis|RHDA1 GARD:0004791|OMIM:191830 owl:Class MONDO:0018423 biolink:NamedThing autosomal recessive spastic paraplegia type 71 tmpak2llvmy_mondo_relaxed.owl SPG71 ICD10:G11.4|Orphanet:401840|UMLS:CN226130 owl:Class HP:0000152 biolink:NamedThing Abnormality of head or neck An abnormality of head and neck. tmpak2llvmy_mondo_relaxed.owl Head and neck abnormality|Abnormality of head or neck UMLS:C4021817 human_phenotype owl:Class NCIT:C83490 biolink:NamedThing Microscopic Finding tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C125581 biolink:NamedThing Pathology Result tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:106178 biolink:NamedThing canis group tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:943 biolink:NamedThing Ehrlichia tmpak2llvmy_mondo_relaxed.owl Ehrlichia (subgen. Cowdria)|possibly "Donatienella" Rousselot 1948|Nicollea|Rickettsia (subgen. Ehrlichia)|Kurlovia|Cowdria GC_ID:11|PMID:11760958|PMID:11414267 NCBITaxon:778 ncbi_taxonomy owl:Class MONDO:0018737 biolink:NamedThing catastrophic antiphospholipid syndrome tmpak2llvmy_mondo_relaxed.owl catastrophic APS|caps UMLS:C3662487|ICD10:D68.6|GARD:0009820|UMLS:CN242096|SCTID:609329007|Orphanet:464343|ICD9:289.81 owl:Class MONDO:0009534 biolink:NamedThing chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation tmpak2llvmy_mondo_relaxed.owl lymphoblastic transformation, inhibition of OMIM:247430|MESH:C565433 owl:Class MONDO:0013254 biolink:NamedThing microcephaly, seizures, and developmental delay tmpak2llvmy_mondo_relaxed.owl MCSZ|early infantile epileptic encephalopathy-10|EIEE10|microcephaly - seizures - developmental delay|epileptic encephalopathy, early infantile, 10|microcephaly, seizures, and developmental delay OMIM:613402|DOID:0080457|Orphanet:228418|UMLS:C3150667|GARD:0010933 https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay owl:Class MONDO:0004264 biolink:NamedThing acute gonococcal endometritis tmpak2llvmy_mondo_relaxed.owl gonococcal endometritis|gonococcal endometritis (acute)|acute gonorrhea of uterus|uterus - acute gonorrhoea UMLS:C0153196|DOID:7527|ICD9:098.16|SCTID:65295003|UMLS:C0341829 owl:Class MONDO:0019202 biolink:NamedThing myxofibrosarcoma A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. tmpak2llvmy_mondo_relaxed.owl myxoid fibrous histiocytoma|myxoid MFH|myxoid malignant fibrous histiocytoma|MFS|myxofibrosarcoma|fibromyxosarcoma NCIT:C6496|ONCOTREE:MFS|Orphanet:79105|MedDRA:10066948|SCTID:253042009|DOID:0080534|ICD10:C49.9|ICDO:8811/3 owl:Class MONDO:0005754 biolink:NamedThing epilepsy with generalized tonic-clonic seizures A generalized tonic-clonic seizure. tmpak2llvmy_mondo_relaxed.owl grand Mal epilepsy|tonic-clonic epilepsy|epileptic seizures, tonic-clonic UMLS:C0014549|NCIT:C3022|SCTID:352818000|MESH:D004830|DOID:7725|EFO:0007262|ICD9:345.10 owl:Class MONDO:0006375 biolink:NamedThing placental hemangioma A hemangioma arising from the fetal blood vessels in the placental villi. tmpak2llvmy_mondo_relaxed.owl placenta hemangioma|Chorangioma of the placenta|placental angioma|hemangioma of the placenta|hemangioma of placenta|angioma of the placenta|Chorangioma|angioma of placenta|chorioangioma|Chorangioma placentae|placental hemangioma ICD9:219.8|DOID:277|UMLS:C0677608|SCTID:237268002|NCIT:C4868|EFO:1000480 owl:Class MONDO:0009464 biolink:NamedThing immunodeficiency with defective T-cell response to interleukin 1 tmpak2llvmy_mondo_relaxed.owl immunodeficiency with defective T-cell response to interleukin 1|immunodeficiency with defective T-cell response to Interleukin type 1|Interleukin 1, defective T-cell response to OMIM:243110|UMLS:C1855735 owl:Class MONDO:0020507 biolink:NamedThing Cree leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:99854|ICD10:E75.2 owl:Class MONDO:0013441 biolink:NamedThing asphyxiating thoracic dystrophy 4 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. tmpak2llvmy_mondo_relaxed.owl ATD4|short-rib thoracic dysplasia 4 with or without polydactyly|asphyxiating thoracic dystrophy type 4|asphyxiating thoracic dystrophy 4|SRTD4 OMIM:613819|DOID:0110088|UMLS:C3151185|ICD10:Q77.2 owl:Class UBERON:0010305 biolink:NamedThing subdivision of conjunctiva One of the three major regions of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl conjunctiva region|region of conjunctiva owl:Class GO:0050820 biolink:NamedThing positive regulation of coagulation Any process that activates or increases the frequency, rate or extent of coagulation. tmpak2llvmy_mondo_relaxed.owl up regulation of coagulation|upregulation of coagulation|positive regulation of clotting|up-regulation of coagulation|activation of coagulation|stimulation of coagulation owl:Class MONDO:0010762 biolink:NamedThing lymphoma, Hodgkin, Y-linked pseudoautosomal tmpak2llvmy_mondo_relaxed.owl Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal MESH:C564034|UMLS:C1839076|OMIM:400021 owl:Class UBERON:0004986 biolink:NamedThing mucosa of deferent duct A mucosa that is part of a vas deferens [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ductus deferens mucous membrane|organ mucosa of sperm duct|mucosa of ductus deferens|organ mucosa of vas deferen|deferent duct mucous membrane|vas deferen mucosa|deferent duct organ mucosa|tunica mucosa ductus deferentis|mucosa of organ of sperm duct|mucosa of organ of vas deferen|vas deferens mucous membrane|sperm duct mucosa of organ|ductus deferens mucosa|mucosa of organ of deferent duct|sperm duct mucosa|vas deferens mucosa|mucosa of vas deferens|tunica mucosa (ductus deferens)|mucosa of organ of ductus deferens|vas deferens organ mucosa|deferent ductal mucosa|mucous membrane of deferent duct|vas deferen mucous membrane|organ mucosa of vas deferens|mucous membrane of sperm duct|sperm duct organ mucosa|ductus deferens mucosa of organ|mucous membrane of vas deferen|mucosa of organ of vas deferens|mucous membrane of vas deferens|vas deferens mucosa of organ|organ mucosa of deferent duct|mucous membrane of ductus deferens|mucosa of vas deferen|ductus deferens organ mucosa|organ mucosa of ductus deferens|vas deferen organ mucosa|mucosa of sperm duct|deferent duct mucosa of organ|sperm duct mucous membrane|vas deferen mucosa of organ|deferent duct mucosa owl:Class MONDO:0015055 biolink:NamedThing acquired angioedema type 2 Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl acquired angioneurotic edema type 2|AAE 2|AAE II ICD10:T78.3|Orphanet:100055|UMLS:CN197347 owl:Class MONDO:0017111 biolink:NamedThing isolated Dandy-Walker malformation without hydrocephalus tmpak2llvmy_mondo_relaxed.owl ICD10:Q03.1|Orphanet:269215 owl:Class MONDO:0009072 biolink:NamedThing Dandy-Walker syndrome Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. tmpak2llvmy_mondo_relaxed.owl DWS|Dandy-Walker complex|Dandy-Walker malformation|Dandy-Walker syndrome|Dandy-Walker variant (type of DW complex)|Dandy-Walker syndrome or malformation (type of DW complex)|isolated Dandy-Walker malformation|DW complex|atresia of foramina of Magendie and Luschka|mega cisterna magna (type of DW complex) DOID:2785|UMLS:C0010964|GARD:0006242|ICD10:Q03.1|MedDRA:10048411|OMIM:220200|MESH:D003616|NCIT:C75012|Orphanet:217|EFO:1000890|SCTID:14447001 owl:Class MONDO:0003329 biolink:NamedThing ureteral obstruction Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy. tmpak2llvmy_mondo_relaxed.owl ureteral obstruction (disease)|ureteral obstruction ureteral obstruction (disease) SCTID:20018005|HP:0006000|DOID:5199|MESH:D014517|ICD9:593.4 owl:Class MONDO:0015400 biolink:NamedThing frontonasal arteriovenous malformation Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. tmpak2llvmy_mondo_relaxed.owl ICD10:Q27.3|Orphanet:141168 owl:Class HP:0002105 biolink:NamedThing Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. tmpak2llvmy_mondo_relaxed.owl Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus SNOMEDCT_US:6686005|UMLS:C0019079|MSH:D006469|SNOMEDCT_US:66857006 human_phenotype owl:Class MONDO:0005962 biolink:NamedThing skeletal tuberculosis Tuberculosis of the bones or joints. tmpak2llvmy_mondo_relaxed.owl osteoarticular tuberculosis EFO:0007487|ICD9:015.9|DOID:1639|MESH:D014394|ICD9:015|SCTID:17653001|UMLS:C0041324|ICD10:A18.0 owl:Class MONDO:0018442 biolink:NamedThing acitretin/etretinate embryopathy Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. tmpak2llvmy_mondo_relaxed.owl fetal acitretin syndrome|Acitretine embryofetopathy|retinoid embryopathy|fetal acitretin/etretinate syndrome|acitretin embryopathy|acitretin embryofetopathy SCTID:725287006|GARD:0000468|MESH:C538169|Orphanet:40366|UMLS:CN205049|ICD10:Q86.8 https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy owl:Class HGNC:3661 biolink:NamedThing FGA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002577 biolink:NamedThing extrahepatic bile duct rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of extrahepatic bile duct|rhabdomyosarcoma of the bile duct|bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma (disease)|extrahepatic bile duct rhabdomyosarcoma|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the extrahepatic bile duct|rhabdomyosarcoma (disease) of extrahepatic bile duct UMLS:C2064434|DOID:3254|NCIT:C5860 owl:Class MONDO:0000687 biolink:NamedThing diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. tmpak2llvmy_mondo_relaxed.owl Cazenave's vitiligo|Jonston's alopecia|alopecia celsi|marginal alopecia|Celsus' vitiligo|patchy alopecia SCTID:46586006|DOID:0060157|MESH:C531609 owl:Class MONDO:0032691 biolink:NamedThing Galloway-Mowat syndrome 6 tmpak2llvmy_mondo_relaxed.owl GAMOS6|GALLOWAY-MOWAT SYNDROME 6 OMIM:618347 owl:Class MONDO:0004288 biolink:NamedThing scirrhous breast carcinoma An infiltrating ductal breast carcinoma associated with stromal fibrosis. tmpak2llvmy_mondo_relaxed.owl scirrhous carcinoma of breast|breast scirrhous carcinoma|scirrhous carcinoma of the breast|infiltrating carcinoma of the breast with fibrotic Stroma|scirrhous breast carcinoma|infiltrating carcinoma of breast with fibrotic Stroma SCTID:254839007|ICDO:8514/3|DOID:7578|NCIT:C7362|UMLS:C0346151 owl:Class MONDO:0002022 biolink:NamedThing disease of orbital region A disease that involves the orbital region. tmpak2llvmy_mondo_relaxed.owl orbital region disease or disorder|disorder of eye region|ophthalmological disorder|orbital region disease|disease or disorder of orbital region|eye and adnexa disease|disorder of orbital region|disease of orbital region ICD9:362.10|SCTID:371409005|DOID:1492|ICD10:H00.H59|ICD10:H35.00 owl:Class MONDO:0019745 biolink:NamedThing cystinuria type A tmpak2llvmy_mondo_relaxed.owl Orphanet:93612|ICD10:E72.0|MESH:C565652 owl:Class MONDO:0019074 biolink:NamedThing bilateral acute depigmentation of the iris Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. tmpak2llvmy_mondo_relaxed.owl BADI Orphanet:69736|SCTID:720460007 owl:Class MONDO:0002195 biolink:NamedThing vulvar squamous neoplasm A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl vulvar squamous tumor|mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm NCIT:C40283|DOID:2072|UMLS:C1520097 owl:Class MONDO:0020059 biolink:NamedThing gonosome number anomaly tmpak2llvmy_mondo_relaxed.owl Sex-chromosome number anomaly Orphanet:98156 owl:Class HP:0004378 biolink:NamedThing Abnormality of the anus Abnormality of the anal canal. tmpak2llvmy_mondo_relaxed.owl Abnormality of the anus UMLS:C4025329 The anal canal is continuous proximally with the rectum and distally terminates with the anus. peter 2008-03-18T08:11:00Z human_phenotype owl:Class HGNC:18858 biolink:NamedThing PIGM tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000223 biolink:NamedThing lung neuroendocrine cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020658 biolink:NamedThing infiltrating ureter transitional cell carcinoma tmpak2llvmy_mondo_relaxed.owl DOID:6845 owl:Class HGNC:26162 biolink:NamedThing PYROXD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0003366 biolink:NamedThing Abnormal femoral neck/head morphology tmpak2llvmy_mondo_relaxed.owl Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region UMLS:C4025622 human_phenotype owl:Class MONDO:0018467 biolink:NamedThing nephropathic infantile cystinosis Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpak2llvmy_mondo_relaxed.owl cystinosis, infantile nephropathic|cystinosis, atypical nephropathic|nephropathic infantile cystinosis|CTNS|lysosomal cystine transport protein, defect of|cystinosin, defect of ICD10:E72.0+|Orphanet:411629|ICD10:N16.3*|MONDO:0009065 owl:Class MONDO:0010642 biolink:NamedThing Lesch-Nyhan phenotype with normal HGPRT tmpak2llvmy_mondo_relaxed.owl Lesch-Nyhan phenotype with normal HGPRT OMIM:308950 owl:Class MONDO:0010298 biolink:NamedThing Lesch-Nyhan syndrome Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. tmpak2llvmy_mondo_relaxed.owl HPRT complete deficiency|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|deficiency of IMP pyrophosphorylase|hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|hypoxanthine guanine phosphoribosyltransferase complete deficiency|X-linked hyperuricemia (disorder) [ambiguous]|Lesch-Nyhan syndrome, neurologic variant|HPRT deficiency|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|Lesch - Nyhan syndrome|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|X-linked hyperuricemia|Lesch Nyhan syndrome|HPRT deficiency grade IV|HPRT deficiency, complete|Lesch-Nyhan syndrome|LNS|Hprt1 deficiency|Lesch Nyhan disease|HG-PRT deficiency|HPRT deficiency, neurologic variant|complete hypoxanthine-guanine phosphoribosyltransferase deficiency DOID:1919|ICD10:E79.1|OMIM:300322|Orphanet:510|MESH:D007926|NCIT:C61255|SCTID:10406007|UMLS:C0023374|GARD:0007226|ICD9:277.2|UMLS:CN205196|MedDRA:10057589 owl:Class MONDO:0060759 biolink:NamedThing neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures|NEDAMSS|IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome OMIM:618088|Orphanet:597623 https://github.com/monarch-initiative/mondo/issues/3541 owl:Class HGNC:6142 biolink:NamedThing ITGA6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030332 biolink:NamedThing ciliary dyskinesia, primary, 46 tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 46|CILD46 OMIM:619436 owl:Class UBERON:0010026 biolink:NamedThing ventral part of pharyngeal pouch 3 tmpak2llvmy_mondo_relaxed.owl caudal ventral aspect of third dorsal pharyngeal pouch|ventral pharyngeal pouch 3|ventral 3rd arch pharyngeal pouch endoderm|ventral branchial pouch 3 endoderm|ventral 3rd branchial pouch|ventral pharyngeal pouch 3 endoderm|ventral wing of pharyngeal pouch 3 owl:Class MONDO:0017264 biolink:NamedThing syndromic recessive X-linked ichthyosis Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with recessive X-linked ichthyosis|syndromic RXLI|syndromic X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndromic recessive X-linked ichthyosis Orphanet:281090|SCTID:717041008|UMLS:CN202782|ICD10:Q80.1|UMLS:C4274085 owl:Class MONDO:0016289 biolink:NamedThing malignant germ cell tumor of cervix uteri A malignant germ cell tumor that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervical malignant germ cell tumor|cervical germ cell cancer|germ cell cancer of the cervix uteri|uterine cervix malignant germ cell tumor|germ cell cancer of cervix uteri|malignant germ cell tumor of the cervix uteri ICD10:C53.0|ICD10:C53.8|UMLS:CN201079|ICD10:C53.1|Orphanet:213837 owl:Class MONDO:0005801 biolink:NamedThing human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. tmpak2llvmy_mondo_relaxed.owl Human T lymphotropic virus type 1|HTLV-1|Human T-lymphotropic virus 1 disease or disorder|Human T-lymphotropic virus 1 caused disease or disorder|Human T-lymphotropic virus 1 infectious disease|human T-lymphotropic virus 1 infectious disease EFO:0007316|MESH:D015490|GARD:0009645|UMLS:C0020097 owl:Class MONDO:0002152 biolink:NamedThing intermittent squint tmpak2llvmy_mondo_relaxed.owl intermittent heterotropia ICD9:378.2|UMLS:C0152210|ICD10:H50.30|ICD9:378.20|DOID:1942|SCTID:74025007|ICD10:H50.3 owl:Class MONDO:0007816 biolink:NamedThing immune suppression tmpak2llvmy_mondo_relaxed.owl Iscw|immune suppression|IS|streptococcal cell wall antigen, suppression of immune response to OMIM:146850|UMLS:C1840264 Editor note: consider obsoleting owl:Class MONDO:0004022 biolink:NamedThing parasagittal meningioma A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. tmpak2llvmy_mondo_relaxed.owl NCIT:C4960|DOID:6869|UMLS:C0751304 owl:Class HGNC:20233 biolink:NamedThing COQ6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015978 biolink:NamedThing functional neutrophil defect tmpak2llvmy_mondo_relaxed.owl neutrophil disease|neutrophilopathy SCTID:105600002|Orphanet:183681 owl:Class GO:0016769 biolink:NamedThing transferase activity, transferring nitrogenous groups Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl transferase activity, transferring other nitrogenous groups owl:Class MONDO:0010173 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. tmpak2llvmy_mondo_relaxed.owl Mayer-Rokitansky-Küster-Hauser syndrome type 1|MRKH anomaly|Von Mayer-Rokitansky-Kuster anomaly|Müllerian agenesis|Mayer-Rokitansky-KUSTER-Hauser syndrome|MRKH syndrome type 1|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)|congenital absence of the uterus and vagina (CAUV)|congenital absence of uterus and vagina|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mullerian dysgenesis|Mullerian aplasia/dysgenesis|MRKH syndrome|Rokitansky sequence|urogenital adysplasia|Rokitansky syndrome|genital renal ear syndrome|Mrk anomaly OMIM:277000|ICD10:Q51.8|Orphanet:247775|SCTID:8793008|ICD9:752.49|GARD:0007100 https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia owl:Class UBERON:0013704 biolink:NamedThing notochordal canal A tubular passage that extends from the primitive pit into the head process during the early stages of embryonic development in mammals. It perforates the splanchnopleure layer so that the yolk sac and the amnion are connected temporarily. tmpak2llvmy_mondo_relaxed.owl chordal canal owl:Class MONDO:0021340 biolink:NamedThing intertrigo A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. tmpak2llvmy_mondo_relaxed.owl Intertrigo|Eczema intertrigo|Erythema intertrigo SCTID:58759008|MESH:D007402|ICD9:695.89|UMLS:C0021807 owl:Class MONDO:0013014 biolink:NamedThing spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, aggrecan type|SEMDAG|SEMD, aggrecan type OMIM:612813|GARD:0010513|ICD10:Q77.7|UMLS:C2748544|Orphanet:171866|MESH:C567558|SCTID:719165004 https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type owl:Class MONDO:0044203 biolink:NamedThing foveal hypoplasia tmpak2llvmy_mondo_relaxed.owl FVH OMIMPS:136520 owl:Class GO:2001226 biolink:NamedThing negative regulation of chloride transport Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007977 biolink:NamedThing mesomelic dysplasia, Kantaputra type Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. tmpak2llvmy_mondo_relaxed.owl MMDK|mesomelic dysplasia Kantaputra type|mesomelic dysplasia, Thai type|Kantaputra mesomelic dysplasia|mesomelic dysplasia with ankle carpal and tarsal synostosis|Mdk|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|mesomelic dysplasia Thai type|MDK|mesomelic dysplasia, Kantaputra type MESH:C535547|SCTID:719397009|ICD10:Q78.8|OMIM:156232|Orphanet:1836|GARD:0003074 https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type owl:Class MONDO:0002649 biolink:NamedThing scrotum Paget disease A mammary Paget's disease that involves the scrotum. tmpak2llvmy_mondo_relaxed.owl scrotal Paget's disease|scrotum Paget's disease|Paget's disease of scrotum|Paget's disease of the scrotum|scrotum Paget disease|Paget disease of the scrotum|scrotum mammary Paget's disease DOID:3444|NCIT:C7728|UMLS:C0238330 owl:Class MONDO:0005971 biolink:NamedThing staphyloenterotoxemia Food poisoning that is caused by Staphylococcal infection. tmpak2llvmy_mondo_relaxed.owl staphylococcal toxaemia due to food|staphylococcal food poisoning|staphyloenterotoxicosis DOID:96|EFO:0007497|MESH:D013202|UMLS:C0038159|GARD:0009559|ICD9:005.0|SCTID:84622004|NCIT:C35037|ICD10:A05.0 owl:Class MONDO:0044310 biolink:NamedThing Diamond-Blackfan anemia 17 tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia 17|DBA17 OMIM:617409|UMLS:C4479428 owl:Class UBERON:0003562 biolink:NamedThing midbrain dura mater A dura mater that is part of a midbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl midbrain dura mater of neuraxis|dura mater of midbrain|dura mater of neuraxis of midbrain|mesencephalon dura mater owl:Class MONDO:0020118 biolink:NamedThing dense granule disease tmpak2llvmy_mondo_relaxed.owl Delta granule disease UMLS:CN207010|ICD10:D69.1|Orphanet:98456 owl:Class HGNC:4283 biolink:NamedThing GJB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014014 biolink:NamedThing epidermolysis bullosa simplex due to exophilin 5 deficiency tmpak2llvmy_mondo_relaxed.owl EBS-AR exophilin 5|epidermolysis bullosa simplex due to exophilin 5 deficiency|epidermolysis bullosa, nonspecific, autosomal recessive|EBNS Orphanet:412189|ICD10:Q81.0|OMIM:615028|UMLS:C3554367 owl:Class MONDO:0007795 biolink:NamedThing mullerian duct anomalies-limb anomalies syndrome Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl hypomelia with mullerian duct anomalies|limb uterus syndrome|severe upper limb hypoplasia and Mullerian duct anomalies|hypomelia mullerian duct anomalies|limb-uterus syndrome|Müllerian duct anomalies-limb anomalies syndrome OMIM:146160|ICD10:Q87.8|Orphanet:2491|MESH:C537155|GARD:0002908|UMLS:C1840335 owl:Class CL:1001576 biolink:NamedThing oral mucosa squamous cell Squamous cell of oral epithelium. tmpak2llvmy_mondo_relaxed.owl oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cells|oral cavity mucosa squamous cell|oral mucosa squamous epithelial cell CALOHA:TS-1252 owl:Class MONDO:0003056 biolink:NamedThing lymphoplasmacyte-rich meningioma A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. tmpak2llvmy_mondo_relaxed.owl lymphoplasmocyte-rich meningioma (morphologic abnormality)|lymphoplasmocyte-rich meningioma|lymphoplasmacyte-rich meningioma DOID:4591|NCIT:C4720|EFO:1000342|UMLS:C0431119 owl:Class MONDO:0042705 biolink:NamedThing prostatic malacoplakia associated with prostatic abscess tmpak2llvmy_mondo_relaxed.owl prostatic malacoplakia with prostatic and seminal vesicle abscess GARD:0000149|MESH:C537244|UMLS:C2931457 owl:Class MONDO:0001541 biolink:NamedThing plantar nerve lesion A peripheral nerve lesion that involves the plantar nerve. tmpak2llvmy_mondo_relaxed.owl lesion of plantar nerve|peripheral nerve lesion of plantar nerve|plantar nerve peripheral nerve lesion ICD10:G57.6|ICD9:355.6|UMLS:C0154752|ICD10:G57.60|SCTID:193148004|DOID:12524 owl:Class MONDO:0016588 biolink:NamedThing infantile mercury poisoning Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. tmpak2llvmy_mondo_relaxed.owl erythroedema polyneuritis|Feer disease|Swift-Feer disease|pink disease|infantile acrodynia|Swift disease|infantile mercury intoxication ICD10:T56.1|Orphanet:247165|UMLS:CN201782|SCTID:66695004|MESH:D000170 owl:Class MONDO:0018023 biolink:NamedThing hemoglobin M disease tmpak2llvmy_mondo_relaxed.owl M hemoglobinopathy|autosomal dominant methemoglobinemia|hereditary methemoglobinemia due to hemoglobin mutation|blue baby syndrome|methemoglobinemia, beta-globin type UMLS:CN204238|GARD:0013007|Orphanet:330041|MESH:C581942|SCTID:74912001|OMIM:617971|ICD10:D74.0|UMLS:C3665425 owl:Class MONDO:0010774 biolink:NamedThing striatonigral degeneration, infantile, mitochondrial tmpak2llvmy_mondo_relaxed.owl striatonigral degeneration, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|bilateral striatal Necrosis, infantile, mitochondrial OMIM:500003|MESH:C564025|UMLS:C1839022 owl:Class MONDO:0006401 biolink:NamedThing salivary gland adenosquamous carcinoma A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component. tmpak2llvmy_mondo_relaxed.owl saliva-secreting gland adenosquamous carcinoma|salivary gland adenosquamous carcinoma NCIT:C35737|UMLS:C1335894|EFO:1000514 owl:Class MONDO:0006581 biolink:NamedThing miliaria rubra Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). tmpak2llvmy_mondo_relaxed.owl sudamina|miliaria crystallina|prickly heat - miliaria EFO:1000735|DOID:11153|ICD10:L74.2|UMLS:C3241961|ICD10:L74.0|SCTID:44279002|UMLS:C0162423|ICD9:705.1 owl:Class MONDO:0001185 biolink:NamedThing dissociative amnesia A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. tmpak2llvmy_mondo_relaxed.owl psychogenic amnesia DOID:11037|NCIT:C94328|ICD9:300.12|SCTID:84209002|ICD10:F44.0 owl:Class UBERON:0003474 biolink:NamedThing meningeal artery One of the arteries supplying a meninix[Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030856 biolink:NamedThing regulation of epithelial cell differentiation Any process that modulates the frequency, rate or extent of epithelial cell differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007421 biolink:NamedThing deafness-ear malformation-facial palsy syndrome Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl deafness, conductive stapedial, with EAR malformation and facial palsy|Sellars-Beighton syndrome OMIM:124490|ICD10:Q87.0|SCTID:716243005|Orphanet:3232|MESH:C565123 owl:Class MONDO:0060591 biolink:NamedThing immunodeficiency, developmental delay, and hypohomocysteinemia tmpak2llvmy_mondo_relaxed.owl IMDDHH|immunodeficiency, developmental delay, and hypohomocysteinemia OMIM:617744|UMLS:C4540293 owl:Class UBERON:0015918 biolink:NamedThing deep lymph node A lymph node that is located deeper within the organism, further from the surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020788 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 2 tmpak2llvmy_mondo_relaxed.owl HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2|HOMGSMR2 OMIM:618314 owl:Class UBERON:0005221 biolink:NamedThing liver right lobe parenchyma A parenchyma that is part of a right lobe of liver [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl parenchyma of right lobe of liver owl:Class MONDO:0016366 biolink:NamedThing maternal phenylketonuria Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. tmpak2llvmy_mondo_relaxed.owl hyperphenylalaninemic embryopathy|maternal PKU|maternal hyperphenylalaninemia|phenylketonuric embryopathy ICD10:E70.1|Orphanet:2209|GARD:0003413 owl:Class MONDO:0016678 biolink:NamedThing maternal disease-related embryofetopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:251535|UMLS:CN201921 owl:Class MONDO:0013402 biolink:NamedThing retinitis pigmentosa 27 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in NRL|retinitis pigmentosa 27|NRL retinitis pigmentosa|retinitis pigmentosa type 27|retinal Degeneration, autosomal recessive, Clumped pigment type|RP27 UMLS:C1834329|OMIM:613750|ICD10:H35.5|DOID:0110397|MESH:C563526 owl:Class MONDO:0004321 biolink:NamedThing endometrial mixed adenocarcinoma An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor. tmpak2llvmy_mondo_relaxed.owl endometrial mixed adenocarcinoma DOID:7664|NCIT:C40153|UMLS:C1516856 owl:Class MONDO:0001373 biolink:NamedThing urinary bladder posterior wall cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of posterior wall of urinary bladder ICD10:C67.4|UMLS:C0153612|SCTID:188243001|ICD9:188.4|DOID:11811 owl:Class MONDO:0015794 biolink:NamedThing antenatal multiminicore disease with arthrogryposis multiplex congenita tmpak2llvmy_mondo_relaxed.owl multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis GARD:0009129|UMLS:C1843691|Orphanet:178148|ICD10:G71.2 owl:Class HGNC:23537 biolink:NamedThing DHTKD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015668 biolink:NamedThing hereditary dentin defect The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. tmpak2llvmy_mondo_relaxed.owl Orphanet:167759|ICD10:K00.5 owl:Class NCBITaxon:1980415 biolink:NamedThing Nairoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003488 biolink:NamedThing abdominal mammary gland A lactiferous gland that is part of the abdominal region [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl abdomen mammary gland|lobe of breast of abdomen|lactiferous gland of abdomen|abdomen lobe of mammary gland|abdomen lobe of breast|mammary gland of abdomen|abdomen lactiferous gland|lobe of mammary gland of abdomen owl:Class MONDO:0033818 biolink:NamedThing Terrien marginal degeneration A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism tmpak2llvmy_mondo_relaxed.owl Terrien's marginal degeneration Orphanet:519410 owl:Class MONDO:0100063 biolink:NamedThing Pericytoma with t(7;12) A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation. tmpak2llvmy_mondo_relaxed.owl Pericytoma t(7;12) 2018-11-09 22:50:48+00:00 owl:Class MONDO:0007163 biolink:NamedThing episodic ataxia type 2 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. tmpak2llvmy_mondo_relaxed.owl CACNA1A hereditary episodic ataxia|Cerebellopathy, hereditary paroxysmal|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|ataxia, episodic, with Nystagmus|Acetazolamide-responsive episodic ataxia syndrome|CAPA|hereditary episodic ataxia caused by mutation in CACNA1A|episodic ataxia type 2|EA2|ataxia, familial, paroxysmal|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|APCA|episodic ataxia, Nystagmus-associated|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|episodic ataxia, type 2|episodic ataxia with nystagmus|Nystagmus-associated episodic ataxia|ataxia, familial paroxysmal|familial paroxysmal ataxia GARD:0009602|Orphanet:97|OMIM:108500|ICD10:G11.8|MESH:C535506|SCTID:420932006|UMLS:C1720416|DOID:0050990 owl:Class GO:0060760 biolink:NamedThing positive regulation of response to cytokine stimulus Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1652081 biolink:NamedThing Poeae Chloroplast Group 2 (Poeae type) tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147387 biolink:NamedThing Poeae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0007373 biolink:NamedThing Motor neuron atrophy Wasting involving the motor neuron. tmpak2llvmy_mondo_relaxed.owl Motor neuron degeneration UMLS:C4024896 peter 2008-04-01T10:39:00Z human_phenotype owl:Class HP:0007367 biolink:NamedThing Atrophy/Degeneration affecting the central nervous system tmpak2llvmy_mondo_relaxed.owl Atrophy/Degeneration affecting the CNS UMLS:C4024899 peter 2008-04-01T10:23:00Z human_phenotype owl:Class MONDO:0004213 biolink:NamedThing vulvar non-keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. tmpak2llvmy_mondo_relaxed.owl NCIT:C40285|UMLS:C1520092|DOID:7409 owl:Class MONDO:0023048 biolink:NamedThing ectodermal dysplasia neurosensory deafness tmpak2llvmy_mondo_relaxed.owl GARD:0002053 https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness owl:Class UBERON:0004944 biolink:NamedThing submucosa of trigone of urinary bladder A submucosa that is part of a trigone of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl trigone of urinary bladder submucosa|trigone of bladder submucosa|submucosa of deep trigone|deep trigone submucosa|submucosa of Lieutaud ' s trigone|submucosa of trigone of bladder|submucosa of vesical trigone|urinary bladder trigone submucosa|Lieutaud ' s trigone submucosa|vesical trigone submucosa|submucosa of urinary bladder trigone owl:Class HP:0002019 biolink:NamedThing Constipation Infrequent or difficult evacuation of feces. tmpak2llvmy_mondo_relaxed.owl Constipation|Dyschezia|Costiveness SNOMEDCT_US:14760008|SNOMEDCT_US:225595004|MSH:D003248|UMLS:C0237326|UMLS:C0009806 HP:0002241|HP:0003786 human_phenotype owl:Class MONDO:0013809 biolink:NamedThing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS UMLS:C3281223|OMIM:614575 owl:Class MONDO:0007433 biolink:NamedThing dementia/parkinsonism with non-Alzheimer amyloid plaques tmpak2llvmy_mondo_relaxed.owl dementia/parkinsonism with non-Alzheimer amyloid plaques MESH:C565115|OMIM:125320|UMLS:C1852223 owl:Class MONDO:0007957 biolink:NamedThing mediosternal depigmentation line tmpak2llvmy_mondo_relaxed.owl mediosternal depigmentation line OMIM:155200 owl:Class UBERON:0004462 biolink:NamedThing musculature of body wall Any collection of muscles that is part of a body wall [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl body wall musculature|body wall muscles owl:Class MONDO:0020452 biolink:NamedThing inferior vena cava interruption tmpak2llvmy_mondo_relaxed.owl Inferior caval vein interruption|IVC interruption ICD9:747.49|Orphanet:99123|SCTID:93031005|ICD10:Q26.8 owl:Class MONDO:0010227 biolink:NamedThing retinitis pigmentosa 3 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene. tmpak2llvmy_mondo_relaxed.owl Choroidoretinal Degeneration with retinal reflex in heterozygous Women|retinitis pigmentosa 15|retinitis pigmentosa caused by mutation in RPGR|cone-rod Degeneration, X-linked|retinitis pigmentosa type 3|RP3|RPGR retinitis pigmentosa|retinitis pigmentosa 3 MESH:C564520|GARD:0010381|UMLS:C1845667|ICD10:H35.5|DOID:0110414|OMIM:300029 owl:Class MONDO:0008079 biolink:NamedThing neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome tmpak2llvmy_mondo_relaxed.owl Npdc syndrome|duodenal carcinoid syndrome|neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome GARD:0010543|MESH:C563522|OMIM:162240|UMLS:C1834232 owl:Class HGNC:1057 biolink:NamedThing BLK tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50329 biolink:NamedThing 2-carboxyethyl group tmpak2llvmy_mondo_relaxed.owl glutamic acid side-chain|2-carboxyethyl owl:Class MONDO:0014760 biolink:NamedThing TFRC-related combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl immunodeficiency 46|combined immunodeficiency due to TFRC deficiency|Cid due to TFRC deficiency|IMD46|immunodeficiency type 46 OMIM:616740|Orphanet:476113|UMLS:C4225219 owl:Class UBERON:0014790 biolink:NamedThing lingual septum The lingual septum consists of a vertical layer of fibrous tissue, extending throughout the entire length of the median plane of the tongue, though not quite reaching the dorsum. It is thicker behind than in front, and occasionally contains a small fibrocartilage, about 6 mm. in length. It is well displayed by making a vertical section across the organ. tmpak2llvmy_mondo_relaxed.owl septum of tongue|tongue septum|median fibrous septum owl:Class GO:0030730 biolink:NamedThing sequestering of triglyceride The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpak2llvmy_mondo_relaxed.owl sequestering of triacylglycerol|triglyceride retention|triacylglycerol sequestration|triacylglycerol retention|triacylglycerol sequestering|sequestration of triacylglycerol|retention of triglyceride|triacylglycerol storage|sequestration of triglyceride|triglyceride sequestration|triglyceride sequestering|triglyceride storage|storage of triglyceride|retention of triacylglycerol|storage of triacylglycerol owl:Class GO:0019915 biolink:NamedThing lipid storage The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpak2llvmy_mondo_relaxed.owl lipid retention|sequestration of lipid|lipid sequestering|retention of lipids|sequestering of lipids|lipid sequestration|storage of lipids|sequestration of lipids owl:Class MONDO:0018713 biolink:NamedThing retiform hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels. tmpak2llvmy_mondo_relaxed.owl retiform hemangioendothelioma|hobnail hemangioendothelioma SCTID:403982005|UMLS:C1304512|NCIT:C27511|ICD10:D18.0|UMLS:CN242097|Orphanet:458763 owl:Class HGNC:6125 biolink:NamedThing IRS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021301 biolink:NamedThing adenoma of nipple A adenoma that involves the nipple. tmpak2llvmy_mondo_relaxed.owl nipple adenoma|adenoma of the nipple|papillomatosis, subareolar duct|subareolar duct papillomatosis ICDO:8506/0|NCIT:C4192|SCTID:302829009|UMLS:C0334378 owl:Class CL:0000782 biolink:NamedThing myeloid dendritic cell A dendritic cell of the myeloid lineage. tmpak2llvmy_mondo_relaxed.owl mDC|interdigitating cell|CD11c+CD123- DC|veiled cell BTO:0004721 These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). cell owl:Class MONDO:0008469 biolink:NamedThing spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with hypotrichosis|Whyte Petersen McAlister syndrome|Whyte syndrome ICD10:Q77.7|GARD:0010101|UMLS:C1866728|Orphanet:168443|MESH:C535783|OMIM:183849 owl:Class MONDO:0001578 biolink:NamedThing hernia of ovary and fallopian tube tmpak2llvmy_mondo_relaxed.owl ICD9:620.4|ICD10:N83.4|DOID:12735 Editor note: consider obsoleting (should be finding/phenotype) owl:Class MONDO:0002064 biolink:NamedThing breast angiomatosis A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. tmpak2llvmy_mondo_relaxed.owl UMLS:C1511284|DOID:1637|NCIT:C40381 owl:Class HGNC:1014 biolink:NamedThing BCR tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:12090 biolink:NamedThing Enterovirus D70 tmpak2llvmy_mondo_relaxed.owl Enterovirus type 70|Enterovirus 70|Human enterovirus 70 GC_ID:1 NCBITaxon:36405 ncbi_taxonomy owl:Class NCBITaxon:138951 biolink:NamedThing Enterovirus D tmpak2llvmy_mondo_relaxed.owl Enterovirus EV-D|Human enterovirus D GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021025 biolink:NamedThing cirrhosis, familial, with antigenemia tmpak2llvmy_mondo_relaxed.owl cirrhosis, familial OMIM:118900 owl:Class HGNC:30089 biolink:NamedThing PWAR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5391 biolink:NamedThing IDUA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005176 biolink:NamedThing benign insulitis A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. tmpak2llvmy_mondo_relaxed.owl PMID:20545565|Wikipedia:Insulitis|EFO:0002502 Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. owl:Class MONDO:0004299 biolink:NamedThing infiltrating bladder lymphoepithelioma-like carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder lymphoepithelioma-like carcinoma EFO:1000302|DOID:7600|NCIT:C39821|UMLS:C1512736 owl:Class HGNC:14377 biolink:NamedThing NHP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017197 biolink:NamedThing osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. tmpak2llvmy_mondo_relaxed.owl osteopathia striata with pigmentary dermopathy including white forelock|Whyte-Murphy syndrome|Whyte Murphy syndrome|osteopathia striata associated with familial dermopathy and white forelock GARD:0005562|ICD10:Q77.8|MESH:C536054|Orphanet:2779|UMLS:C2931096 owl:Class ECTO:9000077 biolink:NamedThing exposure to chlorine An exposure to chlorine molecular entity. tmpak2llvmy_mondo_relaxed.owl exposure to chlorine molecular entity owl:Class GO:0044108 biolink:NamedThing cellular alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046165 biolink:NamedThing alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpak2llvmy_mondo_relaxed.owl alcohol synthesis|alcohol anabolism|alcohol formation|alcohol biosynthesis owl:Class MONDO:0015664 biolink:NamedThing idiopathic pulmonary artery dilatation Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. tmpak2llvmy_mondo_relaxed.owl idiopathic dilatation of the pulmonary artery ICD10:E25.7|GARD:0006757|Orphanet:1676 https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery owl:Class MONDO:0011131 biolink:NamedThing tricho-oculo-dermo-vertebral syndrome tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|Alves syndrome|Trichooculodermovertebral syndrome|Todv syndrome|arthrogryposis and ectodermal dysplasia|Alves-dos Santos-Castelo syndrome Orphanet:3354|MESH:C537441|OMIM:601701|GARD:0001553 owl:Class MONDO:0014770 biolink:NamedThing Joubert syndrome 25 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome type 25|Joubert syndrome 25|Joubert syndrome caused by mutation in CEP104|CEP104 Joubert syndrome|JBTS25 UMLS:C4084842|OMIM:616781|DOID:0110994 owl:Class GO:0045905 biolink:NamedThing positive regulation of translational termination Any process that activates or increases the frequency, rate or extent of translational termination. tmpak2llvmy_mondo_relaxed.owl up regulation of translational termination|upregulation of translational termination|stimulation of translational termination|up-regulation of translational termination|activation of translational termination owl:Class HGNC:3012 biolink:NamedThing DPYD tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6898 biolink:NamedThing MARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018180 biolink:NamedThing staphylococcal scarlet fever tmpak2llvmy_mondo_relaxed.owl ICD10:A38|Orphanet:36235|UMLS:CN204670 owl:Class MONDO:0024480 biolink:NamedThing dermatosis of eyelid tmpak2llvmy_mondo_relaxed.owl dermatosis of eyelid UMLS:C1274150|SCTID:402700001 owl:Class GO:2000195 biolink:NamedThing negative regulation of female gonad development Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. tmpak2llvmy_mondo_relaxed.owl negative regulation of ovary development|negative regulation of ovarian development owl:Class MONDO:0020428 biolink:NamedThing congenital Gerbode defect tmpak2llvmy_mondo_relaxed.owl Gerbode defect|left ventricular-to-right atrial communication Orphanet:99095|ICD10:Q21.0|SCTID:204312002 owl:Class MONDO:0043280 biolink:NamedThing Wallerian degeneration A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. tmpak2llvmy_mondo_relaxed.owl Wallerian Degeneration|Degeneration, Wallerian|Wallerian degeneration of the pyramidal tract GARD:0007875|NCIT:C85223|MESH:D014855 https://github.com/monarch-initiative/mondo/issues/2312 owl:Class GO:2000380 biolink:NamedThing regulation of mesoderm development Any process that modulates the frequency, rate or extent of mesoderm development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020419 biolink:NamedThing pulmonary artery hypoplasia tmpak2llvmy_mondo_relaxed.owl pulmonary artery hypoplasia (disease)|pulmonary artery hypoplasia pulmonary artery hypoplasia (disease) SCTID:54682008|HP:0004971|Orphanet:99083|ICD10:Q25.7 owl:Class MONDO:0043172 biolink:NamedThing pfeiffer rockelein syndrome tmpak2llvmy_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia GARD:0004306|UMLS:C2931656|MESH:C537890 owl:Class MONDO:0008562 biolink:NamedThing thumb deformity-alopecia-pigmentation anomaly syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl thumb deformity and alopecia|hypotrichosis associated with congenital hypoplasia of the thumb|thumb deformity, alopecia, pigmentation anomaly|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|congenital deformity of the thumb and congenital alopecia GARD:0005199|MESH:C566054|OMIM:188150|UMLS:C2931366|Orphanet:2251 owl:Class HGNC:11581 biolink:NamedThing TBCD tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:343 biolink:NamedThing AHCY tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009577 biolink:NamedThing megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. tmpak2llvmy_mondo_relaxed.owl Neuhauser syndrome|MMR syndrome|Neuhäuser syndrome|megalocornea intellectual disability syndrome|megalocornea mental retardation syndrome|megalocornea-intellectual disability syndrome|megalocornea-mental retardation syndrome|NeuhC$user syndrome Orphanet:2479|GARD:0003448|ICD10:Q87.8|OMIM:249310|SCTID:733522005|UMLS:C0796086|MESH:C536143 https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome owl:Class GO:1903431 biolink:NamedThing positive regulation of cell maturation Any process that activates or increases the frequency, rate or extent of cell maturation. tmpak2llvmy_mondo_relaxed.owl up regulation of cell maturation|upregulation of cell maturation|upregulation of functional differentiation|activation of functional differentiation|up-regulation of functional differentiation|activation of cell maturation|up-regulation of cell maturation|up regulation of functional differentiation|positive regulation of functional differentiation owl:Class MONDO:0004350 biolink:NamedThing pediatric extraocular retinoblastoma Retinoblastoma during childhood that has spread beyond the eye. tmpak2llvmy_mondo_relaxed.owl extraocular retinoblastoma of childhood|childhood metastatic retinoblastoma|childhood extraocular retinoblastoma|extraocular retinoblastoma|pediatric extraocular retinoblastoma UMLS:C1321870|DOID:7747|NCIT:C9048 owl:Class MONDO:0005430 biolink:NamedThing early onset hypertension A form of hypertension with early onset relative to normal range for a given population. tmpak2llvmy_mondo_relaxed.owl EFO:0004772 owl:Class MONDO:0000270 biolink:NamedThing lower respiratory tract disease A disease involving the lower respiratory tract. tmpak2llvmy_mondo_relaxed.owl disease or disorder of lower respiratory tract|lower respiratory tract disease|disorder of lower respiratory tract|disease of lower respiratory tract|lower respiratory tract disease or disorder UMLS:C1290325|SCTID:128272009|DOID:0050161|ICD9:478.1|ICD9:478.19 owl:Class HGNC:14064 biolink:NamedThing HDAC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030885 biolink:NamedThing amyotrophic lateral sclerosis 26 with or without frontotemporal dementia tmpak2llvmy_mondo_relaxed.owl ALS26 OMIM:619133 owl:Class GO:0086019 biolink:NamedThing cell-cell signaling involved in cardiac conduction Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. tmpak2llvmy_mondo_relaxed.owl cell-cell signalling involved in cardiac conduction owl:Class MONDO:0011418 biolink:NamedThing dyslexia, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl DYX3|dyslexia, susceptibility to, 3 OMIM:604254 owl:Class MONDO:0010889 biolink:NamedThing arterial dissection-lentiginosis syndrome Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). tmpak2llvmy_mondo_relaxed.owl arterial dissection with lentiginosis OMIM:600459|Orphanet:1682|MESH:C563937|UMLS:C1838122|ICD10:Q87.8 owl:Class UBERON:0000053 biolink:NamedThing macula lutea An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed) tmpak2llvmy_mondo_relaxed.owl macula|macula retinae|macula flava retinae|maculae owl:Class MONDO:0016409 biolink:NamedThing primary congenital hypothyroidism Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpak2llvmy_mondo_relaxed.owl Orphanet:226295|ICD10:E03.1|ICD10:E03.0 owl:Class MONDO:0044870 biolink:NamedThing acquired torsion dystonia An instance of torsion dystonia that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired torsion dystonia UMLS:C1719382|SCTID:433493000 owl:Class MONDO:0044843 biolink:NamedThing torsion dystonia tmpak2llvmy_mondo_relaxed.owl torsion dystonia SCTID:431034009 owl:Class UBERON:0008408 biolink:NamedThing distal tubular epithelium An epithelium that is part of a distal tubule. tmpak2llvmy_mondo_relaxed.owl distal tubule epithelium owl:Class MONDO:0006770 biolink:NamedThing giant cell reparative granuloma A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. tmpak2llvmy_mondo_relaxed.owl central giant cell reparative granuloma of jaw|GCLSB|central giant cell (reparative) granuloma|central giant cell granuloma|giant cell lesion of small bones EFO:1000950|DOID:1866|MESH:D006101|SCTID:15350006|ICD10:M27.1|ICD9:526.3|UMLS:C0162375|NCIT:C121893 owl:Class MONDO:0013242 biolink:NamedThing maturity-onset diabetes of the young type 11 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. tmpak2llvmy_mondo_relaxed.owl BLK maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in BLK|maturity-onset diabetes of the young, type 11|MODY11 OMIM:613375|DOID:0111109|UMLS:C3150618|SCTID:609578001 owl:Class MONDO:0010172 biolink:NamedThing VACTERL with hydrocephalus VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. tmpak2llvmy_mondo_relaxed.owl VACTERL hydrocephaly|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL association with hydrocephaly|Vater association with hydrocephalus|Sujansky-Leonard syndrome|VACTERL association with hydrocephalus|VACTERL-H|Vater association with macrocephaly and ventriculomegaly Orphanet:3412|ICD10:Q87.8|UMLS:C1848599|OMIM:276950|GARD:0000272 owl:Class GO:0055024 biolink:NamedThing regulation of cardiac muscle tissue development Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. tmpak2llvmy_mondo_relaxed.owl regulation of heart muscle development owl:Class MONDO:0044889 biolink:NamedThing high grade B-cell lymphoma A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. tmpak2llvmy_mondo_relaxed.owl high grade B-cell lymphoma|HGBL|high-grade B-cell lymphoma NCIT:C138211|UMLS:C0456863|SCTID:277617004 owl:Class MONDO:0008760 biolink:NamedThing beta-ketothiolase deficiency Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. tmpak2llvmy_mondo_relaxed.owl beta-ketothiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|3-ketothiolase deficiency|alpha-methylacetoaceticaciduria|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|peroxisomal thiolase deficiency|Beta ketothiolase deficiency|Alpha methylacetoacetic aciduria|Mat deficiency|2-methyl-3-hydroxybutyricacidemia|ALPHA-methylacetoacetic aciduria|mitochondrial acetoacetyl-Coa thiolase deficiency|mitochondrial acetoacetyl-CoA thiolase deficiency|BKT|3-oxothiolase deficiency|T2 deficiency|3-Ktd deficiency OMIM:203750|NCIT:C98841|ICD10:E71.1|GARD:0000872|DOID:14723|MESH:C535434|Orphanet:134 owl:Class CL:0000555 biolink:NamedThing neuronal brush cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0011654 biolink:NamedThing intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism tmpak2llvmy_mondo_relaxed.owl Kondoh syndrome|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism UMLS:C1853480|OMIM:606242|MESH:C565246 owl:Class HGNC:10848 biolink:NamedThing SHH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0600002 biolink:NamedThing hemorrhagic fever An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness. tmpak2llvmy_mondo_relaxed.owl haemorrhagic fever NCIT:C36169 http://orcid.org/0000-0002-5460-8025 owl:Class UBERON:0009744 biolink:NamedThing lymph node medullary sinus The channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels tmpak2llvmy_mondo_relaxed.owl medullary sinus|lymph node medullary sinusoid owl:Class HGNC:28957 biolink:NamedThing EMC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010812 biolink:NamedThing macrocytosis, familial tmpak2llvmy_mondo_relaxed.owl macrocytosis, familial OMIM:600084|MESH:C564004|UMLS:C1838656 owl:Class NCBITaxon:33677 biolink:NamedThing Acanthamoebidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555407 biolink:NamedThing Centramoebida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019156 biolink:NamedThing angioosteohypotrophic syndrome Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. tmpak2llvmy_mondo_relaxed.owl Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome UMLS:CN205707|SCTID:765750001|Orphanet:75508 owl:Class CL:0000179 biolink:NamedThing progesterone secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class NCBITaxon:1224679 biolink:NamedThing Diphyllobothriidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:19125 biolink:NamedThing FGD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044785 biolink:NamedThing desmoplastic melanoma A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. tmpak2llvmy_mondo_relaxed.owl desmoplastic melanoma|desmoplastic cutaneous (skin) melanoma ONCOTREE:DESM|NCIT:C37257 owl:Class MONDO:0006833 biolink:NamedThing lingual goiter Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. tmpak2llvmy_mondo_relaxed.owl DOID:13196|EFO:1001018|SCTID:75667007|MESH:D047268|UMLS:C0271760|ICD9:759.2 owl:Class MONDO:0013845 biolink:NamedThing auriculocondylar syndrome 2 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. tmpak2llvmy_mondo_relaxed.owl auriculocondylar syndrome caused by mutation in PLCB4|Auriculocondylar syndrome 2|Auriculocondylar syndrome type 2|AURICULOCONDYLAR syndrome 2|PLCB4 auriculocondylar syndrome|ARCND2 OMIM:614669|UMLS:C3553404 owl:Class MONDO:0003467 biolink:NamedThing mediastinum synovial sarcoma A synovial sarcoma arising from the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinum synovial sarcoma (disease)|mediastinal synovial sarcoma|synovial sarcoma of the mediastinum|synovial sarcoma of mediastinum UMLS:C1334681|NCIT:C6618|DOID:5488 owl:Class GO:0001992 biolink:NamedThing regulation of systemic arterial blood pressure by vasopressin The regulation of blood pressure mediated by the signaling molecule vasopressin. Vasopressin is produced in the hypothalamus, and affects vasoconstriction, and renal water transport. tmpak2llvmy_mondo_relaxed.owl blood pressure regulation by vasopressin|vasopressin control of blood pressure owl:Class MONDO:0004320 biolink:NamedThing adult infiltrating astrocytic neoplasm tmpak2llvmy_mondo_relaxed.owl adult infiltrating astrocytoma|adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm NCIT:C8289|DOID:7656|UMLS:C0281329 owl:Class UBERON:0003559 biolink:NamedThing hindbrain arachnoid mater An arachnoid mater that is part of a hindbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arachnoid of hindbrain|arachnoid mater of hindbrain|rhombencephalon arachnoid mater|arachnoid mater of neuraxis of hindbrain|hindbrain arachnoid|hindbrain arachnoid mater of neuraxis owl:Class HGNC:6912 biolink:NamedThing MATR3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003236 biolink:NamedThing atypical polypoid adenomyoma An adenomyoma characterized by the presence of marked glandular architectural complexity. tmpak2llvmy_mondo_relaxed.owl atypical polypoid adenomyoma (morphologic abnormality)|atypical polypoid adenomyoma UMLS:C1300347|NCIT:C6895|DOID:4993 owl:Class MONDO:0008213 biolink:NamedThing pectus excavatum A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. tmpak2llvmy_mondo_relaxed.owl pectus excavatum (disease)|pectus excavatum|funnel chest pectus excavatum (disease) HP:0000767|OMIM:169300|SCTID:391987005|MESH:D005660|ICD9:754.81 owl:Class MONDO:0014623 biolink:NamedThing microcephaly 14, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in SASS6|SASS6 autosomal recessive primary microcephaly|microcephaly 14, primary, autosomal recessive|MCPH14 UMLS:C4225338|OMIM:616402|DOID:0070279 owl:Class HGNC:1968 biolink:NamedThing LYST tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0009087 biolink:NamedThing mesocarp A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084). tmpak2llvmy_mondo_relaxed.owl albedo (related)|mesocarpo (Spanish, exact)|中果皮 (Japanese, exact)|portion of mesocarp tissue (exact) PO_GIT:511|PO_GIT:149 plant_anatomy owl:Class UBERON:0007418 biolink:NamedThing neural decussation Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) tmpak2llvmy_mondo_relaxed.owl decussation of neuraxis|neuraxis chiasm|chiasma|decussation|chiasm|neuraxis decussation|neuraxis chiasma owl:Class CL:0005020 biolink:NamedThing lymphangioblast Lymphatic progenitor cells. tmpak2llvmy_mondo_relaxed.owl Usually express Prox1, or prox1b. Ceri 2012-01-12T04:44:34Z cell owl:Class MONDO:0018889 biolink:NamedThing hyaline body myopathy tmpak2llvmy_mondo_relaxed.owl myosin storage myopathy DOID:0111267|ICD10:G71.2|GARD:0007148|Orphanet:53698 owl:Class GO:0008283 biolink:NamedThing cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population. tmpak2llvmy_mondo_relaxed.owl cell proliferation owl:Class MONDO:0008838 biolink:NamedThing ataxia - deafness - intellectual disability syndrome This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl ataxia, hearing loss, and intellectual disability|ataxia-hearing loss-intellectual disability syndrome|Reardon-Baraitser syndrome|familial ataxia, deafness, and developmental delay|Adr syndrome|Reardon Wilson Cavanagh syndrome|ataxia, hearing loss, and mental retardation|ataxia-deafness-retardation syndrome SCTID:720517001|MESH:C535295|ICD10:G11.1|GARD:0004644|OMIM:208850|Orphanet:1188 owl:Class MONDO:0018969 biolink:NamedThing craniorachischisis Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. tmpak2llvmy_mondo_relaxed.owl craniorachischisis (disease)|cranial rachischisis|craniorachischisis craniorachischisis (disease) MedDRA:10011321|GARD:0010504|HP:0030770|ICD9:740.1|UMLS:C0152426|SCTID:32219008|NCIT:C98907|Orphanet:63260|ICD10:Q00.1 owl:Class MONDO:0021500 biolink:NamedThing benign neoplasm of spleen A benign neoplasm that involves the spleen. tmpak2llvmy_mondo_relaxed.owl benign splenic neoplasm|spleen benign neoplasm|benign neoplasm of the spleen UMLS:C0686615|NCIT:C4902|SCTID:92408009|ICD9:211.9 owl:Class MONDO:0020840 biolink:NamedThing pulmonary alveolar proteinosis with hypogammaglobulinemia tmpak2llvmy_mondo_relaxed.owl PAPHG|pulmonary alveolar proteinosis with hypogammaglobulinemia UMLS:CN248786|OMIM:618042 owl:Class MONDO:0003086 biolink:NamedThing thymic mucoepidermoid carcinoma A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports. tmpak2llvmy_mondo_relaxed.owl mucoepidermoid carcinoma of the Thymus|Thymus mucoepidermoid carcinoma|thymus mucoepidermoid carcinoma|thymic mucoepidermoid carcinoma|mucoepidermoid carcinoma of Thymus NCIT:C6457|UMLS:C1334814|DOID:4678 owl:Class NCBITaxon:11083 biolink:NamedThing Powassan virus tmpak2llvmy_mondo_relaxed.owl Flavivirus powassan GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010429 biolink:NamedThing intellectual disability, X-linked 96 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked type 96|MRX96|mental retardation, X-linked type 96|SYP non-syndromic X-linked intellectual disability|mental retardation, X-linked 96|non-syndromic X-linked intellectual disability caused by mutation in SYP|intellectual disability, X-linked 96 UMLS:C3275408|OMIM:300802 owl:Class NCBITaxon:1280 biolink:NamedThing Staphylococcus aureus tmpak2llvmy_mondo_relaxed.owl Staphlococcus pyogenes citreus|Staphylococcus aureus subsp. anaerobius|Micrococcus aureus|Staphylococcus pyogenes aureus|Micrococcus pyogenes PMID:8573498|GC_ID:11|PMID:31023808 NCBITaxon:325213|NCBITaxon:46170|NCBITaxon:72759 ncbi_taxonomy owl:Class NCBITaxon:1279 biolink:NamedThing Staphylococcus tmpak2llvmy_mondo_relaxed.owl Aurococcus PMID:10758876|PMID:10319469|PMID:9734063|PMID:10425778|PMID:12656157|GC_ID:11|PMID:17220435|PMID:10319495 ncbi_taxonomy owl:Class MONDO:0006571 biolink:NamedThing lichen nitidus A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. tmpak2llvmy_mondo_relaxed.owl Pinkus' disease MESH:D017513|SCTID:41890004|ICD10:L44.1|ICD9:697.1|Wikipedia:Lichen_nitidus|EFO:1000725|DOID:8573|UMLS:C0162849 owl:Class FOODON:00001327 biolink:NamedThing pu dong Pu dong is fermented crab tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-1816-4260 owl:Class MONDO:0014908 biolink:NamedThing microcephaly 17, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. tmpak2llvmy_mondo_relaxed.owl cit autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CIT|microcephaly 17, primary, autosomal recessive; MCPH17|microcephaly 17, primary, autosomal recessive|MCPH17|CIT autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in cit UMLS:C4310723|OMIM:617090|DOID:0070288 owl:Class MONDO:0015191 biolink:NamedThing myopathic intestinal pseudoobstruction tmpak2llvmy_mondo_relaxed.owl Orphanet:104077|ICD10:K59.8 owl:Class GO:0043228 biolink:NamedThing non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. tmpak2llvmy_mondo_relaxed.owl non-membrane-enclosed organelle owl:Class GO:0036094 biolink:NamedThing small molecule binding Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024612 biolink:NamedThing manic bipolar affective disorder The manic phase of bipolar disorder. tmpak2llvmy_mondo_relaxed.owl bipolar affective disorder, current episode manic|manic bipolar affective disorder|manic-depressive - now manic NCIT:C34805|SCTID:191618007 owl:Class MONDO:0007363 biolink:NamedThing congenital contractural arachnodactyly Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. tmpak2llvmy_mondo_relaxed.owl Beals-Hecht syndrome|arachnodactyly, contractural Beals type|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|DA9|arthrogryposis, distal, type 9|CCA|CCA syndrome|distal arthrogryposis type 9|contractures, multiple with arachnodactyly|Beals syndrome|contractural arachnodactyly, congenital UMLS:C0220668|DOID:0111595|ICD10:Q68.8|MESH:C536211|NCIT:C129865|ICD9:759.89|SCTID:205821003|Orphanet:115|OMIM:121050|GARD:0005899 owl:Class UBERON:0010569 biolink:NamedThing manual digit 5 metacarpus pre-cartilage condensation A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl fore limb digit 5 metacarpus pre-cartilage condensation|metacarpal 5 pre-cartilage condensation|finger 5 metacarpus pre-cartilage condensation|hand digit 5 metacarpus pre-cartilage condensation|manual digit V metacarpus pre-cartilage condensation owl:Class MONDO:0004679 biolink:NamedThing leukoplakia of vagina Leukoplakia of the vagina. tmpak2llvmy_mondo_relaxed.owl vaginal leukoplakia|leukoplakia of the vagina ICD9:623.1|NCIT:C3663|ICD10:N89.4|DOID:8920|UMLS:C0156385|SCTID:111420009 owl:Class CHEBI:36344 biolink:NamedThing hadron Hadron is a subatomic particle which experiences the strong force. tmpak2llvmy_mondo_relaxed.owl hadrons owl:Class CHEBI:36343 biolink:NamedThing composite particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). tmpak2llvmy_mondo_relaxed.owl composite particles owl:Class MONDO:0012476 biolink:NamedThing hereditary spastic paraplegia 30 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 30, autosomal recessive|KIF1A hereditary spastic paraplegia|hereditary spastic paraplegia type 30|SPG30|autosomal spastic paraplegia type 30|hereditary spastic paraplegia caused by mutation in KIF1A|autosomal recessive spastic paraplegia 30 SCTID:763377006|Orphanet:101010|UMLS:C1835896|DOID:0110781|OMIM:610357|ICD10:G11.4|MESH:C563677 owl:Class MONDO:0018448 biolink:NamedThing clear cell papillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. tmpak2llvmy_mondo_relaxed.owl ICD10:C64|Orphanet:404511|ONCOTREE:CCPRC|UMLS:C4518333|SCTID:734015000 owl:Class HP:0001945 biolink:NamedThing Fever Body temperature elevated above the normal range. tmpak2llvmy_mondo_relaxed.owl Hyperthermia|Pyrexia|Fever SNOMEDCT_US:386661006|UMLS:C0015967|SNOMEDCT_US:50177009|MSH:D005334 Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. human_phenotype owl:Class ENVO:01000680 biolink:NamedThing polluted lake A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006618 biolink:NamedThing vibratory urticaria This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful. tmpak2llvmy_mondo_relaxed.owl ICD9:708.4|Wikipedia:Urticaria#Vibratory_angioedema|SCTID:51247001|DOID:1554|ICD10:L50.4|GARD:0009806|UMLS:C0157743|EFO:1000775 Editor note: TODO add ECTO owl:Class MONDO:0006599 biolink:NamedThing physical urticaria A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. tmpak2llvmy_mondo_relaxed.owl DOID:0060220|EFO:1000754|SCTID:402601007 Editor note: use ECTO to axiomatize owl:Class HGNC:11257 biolink:NamedThing SPR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009148 biolink:NamedThing Rosselli-Gulienetti syndrome A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene tmpak2llvmy_mondo_relaxed.owl Rosselli-Gulienetti syndrome OMIM:225000|Orphanet:90339|MESH:C563117|UMLS:C0796139 https://github.com/monarch-initiative/mondo/issues/432 owl:Class MONDO:0022089 biolink:NamedThing Carnevale hernandez castillo syndrome tmpak2llvmy_mondo_relaxed.owl Triphalyngeal thumbs and brachyectrodactyly GARD:0001117|UMLS:C2930940|MESH:C535585 https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome owl:Class UBERON:0014780 biolink:NamedThing palatine aponeurosis Attached to the posterior border of the hard palate is a thin, firm fibrous lamella called the palatine aponeurosis, which supports the muscles and gives strength to the soft palate. It is thicker above than below, where it becomes very thin and difficult to define. Laterally it is continuous with the pharyngeal aponeurosis. It serves as the insertion for the Tensor veli palatini and Levator veli palatini, and the origin for the Musculus uvulae, Palatopharyngeus, and Palatoglossus. It provides support for the soft palate. tmpak2llvmy_mondo_relaxed.owl aponeurosis palatina|aponeurosis of tensor veli palatini owl:Class MONDO:0009590 biolink:NamedThing metachromatic leukodystrophy due to saposin b deficiency tmpak2llvmy_mondo_relaxed.owl metachromatic leukodystrophy due to saposin b deficiency|saposin B deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency OMIM:249900|SCTID:68390005|UMLS:C0268262|GARD:0010674|MESH:C562609 https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency owl:Class MONDO:0001984 biolink:NamedThing candidal paronychia A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. tmpak2llvmy_mondo_relaxed.owl candidiasis of skin|candidiasis of skin and nails SCTID:187014000|ICD9:112.3|DOID:14512|UMLS:C0006842|ICD10:B37.2|UMLS:C1282977 owl:Class MONDO:0007799 biolink:NamedThing hypophosphatemic bone disease tmpak2llvmy_mondo_relaxed.owl hypophosphatemic bone disease|HBD MESH:C564145|OMIM:146350|UMLS:C1840321 owl:Class MONDO:0010854 biolink:NamedThing Toriello-Lacassie-Droste syndrome Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. tmpak2llvmy_mondo_relaxed.owl Toriello Lacassie Droste syndrome|oculo-ectodermal syndrome|oculoectodermal syndrome|oes|aplasia cutis congenita-epibulbar dermoids syndrome|aplasia cutis congenita with epibulbar dermoids SCTID:723554006|UMLS:C1838329|Orphanet:3339|OMIM:600268|DOID:0111705|MESH:C563969|GARD:0010366 owl:Class GO:0009719 biolink:NamedThing response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008155 biolink:NamedThing osteomesopyknosis Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. tmpak2llvmy_mondo_relaxed.owl axial osteosclerosis|osteomesopyknosis SCTID:254125009|MESH:C537792|ICD10:Q78.2|UMLS:C0432264|GARD:0000391|Orphanet:2777|OMIM:166450 https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis owl:Class MONDO:0043294 biolink:NamedThing linear scleroderma A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. tmpak2llvmy_mondo_relaxed.owl en coup de sabre|linear morphea|linear Scleroderma|Scleroderma, linear|linear scleroderma NCIT:C116780|GARD:0009513|SCTID:22784002 owl:Class MONDO:0002948 biolink:NamedThing skin fibroepithelial basal cell carcinoma A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. tmpak2llvmy_mondo_relaxed.owl fibroepithelioma of Pinkus|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus type|Pinkus tumor NCIT:C4109|SCTID:254703005|DOID:4291|ICDO:8093/3|UMLS:C0346013 owl:Class CL:2000074 biolink:NamedThing splenocyte Any leukocyte that is part of a spleen. tmpak2llvmy_mondo_relaxed.owl Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. TermGenie 2014-11-05T01:26:50Z cell owl:Class MONDO:0034987 biolink:NamedThing intraductal tubulopapillary neoplasm of pancreas tmpak2llvmy_mondo_relaxed.owl Orphanet:580572 owl:Class MONDO:0014501 biolink:NamedThing macular degeneration, early-onset tmpak2llvmy_mondo_relaxed.owl macular degeneration, early-onset|EOMD OMIM:616118|UMLS:C4015286 owl:Class GO:0051058 biolink:NamedThing negative regulation of small GTPase mediated signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. tmpak2llvmy_mondo_relaxed.owl inhibition of small GTPase mediated signal transduction|down-regulation of small GTPase mediated signal transduction|negative regulation of small GTPase-mediated signal transduction|downregulation of small GTPase mediated signal transduction|down regulation of small GTPase mediated signal transduction owl:Class HP:0100511 biolink:NamedThing Abnormality of vitamin D metabolism tmpak2llvmy_mondo_relaxed.owl Abnormality of vitamin D metabolism UMLS:C4022035 doelkens 2010-12-17T06:19:15Z human_phenotype owl:Class MONDO:0013086 biolink:NamedThing neuroblastoma, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl NBLST6|neuroblastoma, susceptibility to, 6 OMIM:613017 owl:Class HGNC:11278 biolink:NamedThing SPTLC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022297 biolink:NamedThing palpebral branch of infra-orbital nerve A nerve that innervates an eyelid and is a branch of the infra-orbital branch of the maxillary nerve. tmpak2llvmy_mondo_relaxed.owl palpebral branch of maxillary nerve owl:Class GO:0140416 biolink:NamedThing transcription regulator inhibitor activity A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. tmpak2llvmy_mondo_relaxed.owl DNA-binding transcription factor inhibitor activity owl:Class NCBITaxon:1535326 biolink:NamedThing Candida tmpak2llvmy_mondo_relaxed.owl Candida GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1535325 biolink:NamedThing Candida/Lodderomyces clade tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:16205 biolink:NamedThing MGME1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:186538 biolink:NamedThing Zaire ebolavirus tmpak2llvmy_mondo_relaxed.owl Zaire Ebola virus|ZEBOV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1485168 biolink:NamedThing Longamoebia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011200 biolink:NamedThing sacrococcygeal symphysis The sacrococcygeal symphysis (sacrococcygeal articulation, articulation of the sacrum and coccyx) is an amphiarthrodial joint, formed between the oval surface at the apex of the sacrum, and the base of the coccyx. It is a slightly moveable joint which is frequently, partially or completely, obliterated in old age, homologous with the joints between the bodies of the vertebrae. tmpak2llvmy_mondo_relaxed.owl sacrococcygeal joint owl:Class MONDO:0032786 biolink:NamedThing Noonan syndrome 11 tmpak2llvmy_mondo_relaxed.owl NOONAN SYNDROME 11|NS11 OMIM:618499 owl:Class MONDO:0032922 biolink:NamedThing Beck-Fahrner syndrome tmpak2llvmy_mondo_relaxed.owl BEFAHRS|BECK-FAHRNER SYNDROME OMIM:618798 owl:Class UBERON:0010160 biolink:NamedThing lumen of lymphatic vessel An anatomical cavity that surrounded_by a lymphatic vessel. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel lumen|lumen of lymphatic duct owl:Class MONDO:0600011 biolink:NamedThing mild hypophosphatasia Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. tmpak2llvmy_mondo_relaxed.owl attenuated hypophosphatasia http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0012709 biolink:NamedThing microphthalmia, isolated, with coloboma 5 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in SHH|microphthalmia, isolated, with coloboma 5|MCOPCB5|SHH microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in Shh|Shh microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 5 MESH:C566899|OMIM:611638|UMLS:C1968843 owl:Class MONDO:0003795 biolink:NamedThing ovarian small cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. tmpak2llvmy_mondo_relaxed.owl small cell carcinoma of the ovary|small cell carcinoma of ovary|ovarian small cell NEC|ovarian small cell neuroendocrine carcinoma|ovarian small cell cancer|SCCO|ovarian small cell carcinoma|small cell ovarian carcinoma|ovary small cell carcinoma EFO:1000431|ICD10:C56|GARD:0010411|Orphanet:370396|ONCOTREE:SCCO|DOID:6179|UMLS:C2212006|NCIT:C27390 owl:Class MONDO:0017506 biolink:NamedThing congenital absence/hypoplasia of thumb, unilateral Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. tmpak2llvmy_mondo_relaxed.owl thumb hypodactyly, unilateral|thumb oligodactyly, unilateral Orphanet:295110|ICD10:Q71.3 owl:Class MONDO:0017447 biolink:NamedThing congenital absence/hypoplasia of thumb Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. tmpak2llvmy_mondo_relaxed.owl thumb oligodactyly|thumb hypodactyly ICD10:Q71.3|Orphanet:294988 owl:Class MONDO:0011677 biolink:NamedThing Megarbane syndrome tmpak2llvmy_mondo_relaxed.owl short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation|Megarbane syndrome MESH:C536145|UMLS:C1847871|GARD:0009979|OMIM:606527 https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome owl:Class GO:0045576 biolink:NamedThing mast cell activation The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070161 biolink:NamedThing anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. tmpak2llvmy_mondo_relaxed.owl anchoring cell junction owl:Class GO:0030054 biolink:NamedThing cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009503 biolink:NamedThing pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase protein X component deficiency|pyruvate dehydrogenase complex component E3 deficiency|lipoamide dehydrogenase deficiency|pyruvate dehydrogenase E3-binding protein deficiency|Glycine cleavage system L protein deficiency|dihydrolipoyl dehydrogenase deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|pyruvate dehydrogenase E3-binding PROTEIN deficiency|2-oxoglutarate complex deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|PDHXD|diaphorase deficiency OMIM:245349|UMLS:C1855553|Orphanet:255182|ICD10:E74.4 owl:Class MONDO:0014719 biolink:NamedThing developmental and epileptic encephalopathy, 35 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 35|epileptic encephalopathy, early infantile, type 35|EIEE35|DEE35|ITPA-related encephalopathy Orphanet:457375|DOID:0080458|OMIM:616647|UMLS:C4225256|ICD10:G40.4 owl:Class MONDO:0013000 biolink:NamedThing porphyria due to ALA dehydratase deficiency Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. tmpak2llvmy_mondo_relaxed.owl Lead poisoning, susceptibility to|porphyria of Doss|ALAD porphyria|porphyria due to delta-aminolevulinate dehydratase deficiency|ALA dehydratase deficiency pophyria|acute hepatic porphyria|ALAD deficiency|Doss porphyria|porphyria due to ALAD deficiency|5-aminolevulinic acid dehydratase deficiency porphyria|Delta-aminolevulinate dehydratase deficiency|porphyria due to ALA dehydratase deficiency|aminolevulinate dehydratase deficiency porphyria|porphyria, acute hepatic|porphobilinogen synthase deficiency|porphyria, ALAD ICD10:E80.2|MESH:C562618|OMIM:612740|NCIT:C133887|Orphanet:100924|GARD:0004445 https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria owl:Class HGNC:2978 biolink:NamedThing DNMT3A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002862 biolink:NamedThing negative regulation of inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpak2llvmy_mondo_relaxed.owl inhibition of inflammatory response to antigenic stimulus|down regulation of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus|down-regulation of inflammatory response to antigenic stimulus owl:Class HGNC:9439 biolink:NamedThing DNAJC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020326 biolink:NamedThing lymphomatoid papulosis Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. tmpak2llvmy_mondo_relaxed.owl LYP|LyP UMLS:C0206182|ICD10:L41.2|MedDRA:10056670|SCTID:31047003|Orphanet:98842|ICD9:447.8|GARD:0006944|ICDO:9718/1|ICD10:C86.6|EFO:1000341|NCIT:C3721|ONCOTREE:LYP|MESH:D017731 https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis owl:Class MONDO:0008569 biolink:NamedThing thyroid hormone resistance, generalized, autosomal dominant tmpak2llvmy_mondo_relaxed.owl GRTH|thyroid hormone resistance, generalized, autosomal dominant|Gthr|hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|thyroid hormone unresponsiveness MESH:C567934|OMIM:188570|UMLS:C2937288 owl:Class HGNC:7808 biolink:NamedThing NGF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006603 biolink:NamedThing reactive cutaneous fibrous lesion A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. tmpak2llvmy_mondo_relaxed.owl EFO:1000759|DOID:2053|NCIT:C27549|UMLS:C1335666 owl:Class MONDO:0019413 biolink:NamedThing ischio-vertebral syndrome Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl ischio-vertebral dysplasia|ischio-spinal dysostosis SCTID:715654001|UMLS:C4274732|ICD10:Q77.8|UMLS:CN206143|Orphanet:85200 owl:Class HGNC:10004 biolink:NamedThing RGS9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001688 biolink:NamedThing toxic optic neuropathy tmpak2llvmy_mondo_relaxed.owl SCTID:26125006|ICD9:377.34|ICD10:H46.3|UMLS:C0155303|DOID:13329 Editor note: todo - grouping class owl:Class MONDO:0009054 biolink:NamedThing autosomal recessive cutis laxa type 2, classic type tmpak2llvmy_mondo_relaxed.owl ARCL2A|autosomal recessive cutis laxa type 2, Debré type|Arcl2|ARCL2, Debré type|ADCL2|autosomal recessive cutis laxa type II classic type|ARCL2, Debre type|ARCL2, debre type|autosomal recessive cutis laxa type 2, Debre type|ARCL2, classic type SCTID:73856006|Orphanet:357074|ICD10:Q82.8|UMLS:CN204606|DOID:0070141|MESH:C562632|DOID:0070136 owl:Class GO:0007498 biolink:NamedThing mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007100 biolink:NamedThing primary circulatory organ A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. tmpak2llvmy_mondo_relaxed.owl adult heart|dorsal tube|heart owl:Class GO:0042180 biolink:NamedThing cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpak2llvmy_mondo_relaxed.owl ketone metabolism owl:Class MONDO:0014231 biolink:NamedThing juvenile onset Parkinson disease 19A Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. tmpak2llvmy_mondo_relaxed.owl juvenile onset Parkinson disease 19A|Parkinson disease 19A, juvenile-onset|juvenile onset Parkinson's disease 19A|juvenile onset Parkinson disease type 19A|Parkinson disease 19B, early-onset|PARK19|Park19, formerly|PARK19A|Parkinson disease caused by mutation in DNAJC6|Parkinson disease 19, juvenile-onset|DNAJC6 Parkinson disease UMLS:C3809811|OMIM:615528|DOID:0060891|ICD10:G20 owl:Class HP:0030050 biolink:NamedThing Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. tmpak2llvmy_mondo_relaxed.owl UMLS:C0027404|MSH:D009290|SNOMEDCT_US:60380001 There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. human_phenotype owl:Class MONDO:0002803 biolink:NamedThing intestinal pseudo-obstruction Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. tmpak2llvmy_mondo_relaxed.owl hollow visceral myopathy|intestinal pseudo-obstruction|pseudo-obstruction of intestine|intestinal pseudoobstruction|intestine pseudoobstruction SCTID:235825006|NCIT:C34733|EFO:1000988|DOID:3878|GARD:0006789|MESH:D007418|ICD9:569.89 https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction owl:Class UBERON:0003475 biolink:NamedThing ureteric vein A vein that is part of a ureter [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ureter vein|vein of ureter owl:Class MONDO:0000290 biolink:NamedThing primary amebic meningoencephalitis A infectious disease involving the Naegleria fowleri. tmpak2llvmy_mondo_relaxed.owl infections, Naegleria fowleri|Naegleria fowleri infection UMLS:C4303098|DOID:0050242|UMLS:C0300934|SCTID:721816008|GARD:0009554|MESH:C535275 owl:Class MONDO:0015995 biolink:NamedThing melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. tmpak2llvmy_mondo_relaxed.owl dystrophy osseous sclerosing mixed|mixed sclerosing bone dystrophy|MSBD syndrome GARD:0003690|Orphanet:1879|GARD:0003800|ICD10:M85.8|UMLS:C2931505|UMLS:CN200621 owl:Class HGNC:1974 biolink:NamedThing CHUK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015755 biolink:NamedThing myopathy with hexagonally cross-linked tubular arrays Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. tmpak2llvmy_mondo_relaxed.owl ICD10:G71.2|SCTID:764994007|Orphanet:171889 owl:Class MONDO:0014198 biolink:NamedThing mitochondrial DNA depletion syndrome 13 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. tmpak2llvmy_mondo_relaxed.owl FBXL4 mitochondrial DNA depletion syndrome|MTDPS13|BXL4-related early-onset mitochondrial encephalopathy|encephalomyopathic mitochondrial DNA depletion syndrome-13|mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|FBXL4 deficiency|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome type 13 DOID:0080131|Orphanet:369897|GARD:0013298|ICD10:E88.8|OMIM:615471|SCTID:765403009|UMLS:C3809592 owl:Class CHEBI:24527 biolink:NamedThing herbicide A substance used to destroy plant pests. tmpak2llvmy_mondo_relaxed.owl Wildkrautbekaempfungsmittel|Unkrautbekaempfungsmittel|Unkrautvertilgungsmittel|herbicides|Herbizid owl:Class CHEBI:25944 biolink:NamedThing pesticide Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests. tmpak2llvmy_mondo_relaxed.owl Pestizide|pesticides|Pestizid|pesticide owl:Class MONDO:0022772 biolink:NamedThing classic Kaposi sarcoma A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation. tmpak2llvmy_mondo_relaxed.owl Kaposi sarcoma, classic|classic Kaposi sarcoma|Kaposi sarcoma classical type|Kaposi's sarcoma, classical type|classic Kaposi's sarcoma UMLS:C0279084|NCIT:C9112 owl:Class CHEBI:58315 biolink:NamedThing L-tyrosine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate|L-tyrosine owl:Class MONDO:0009828 biolink:NamedThing palant cleft palate syndrome tmpak2llvmy_mondo_relaxed.owl unusual facies, cleft palate, mental retardation, and limb abnormalities|unusual facies, cleft palate, intellectual disability, and limb abnormalities|Palant cleft palate syndrome OMIM:260150|MESH:C538102|GARD:0004198|UMLS:C1850102 https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome owl:Class MONDO:0032655 biolink:NamedThing visual impairment and progressive phthisis bulbi tmpak2llvmy_mondo_relaxed.owl VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI|VIPB OMIM:618283|DOID:0070356 owl:Class MONDO:0006759 biolink:NamedThing femoral neuropathy Neuropathy of the femoral nerve. tmpak2llvmy_mondo_relaxed.owl femoral nerve dysfunction|femoral nerve peripheral nerve lesion|peripheral nerve lesion of femoral nerve|femoral nerve lesions NCIT:C27595|DOID:4196|ICD10:G57.2|SCTID:25690000|UMLS:C0751931|ICD10:G57.20|ICD9:355.2|MESH:D020428|EFO:1000936 owl:Class CHEBI:35221 biolink:NamedThing antimetabolite A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. tmpak2llvmy_mondo_relaxed.owl antimetabolite|antimetabolites owl:Class CL:0000900 biolink:NamedThing naive thymus-derived CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. tmpak2llvmy_mondo_relaxed.owl T.8Nve.Sp|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive thymus-dervied CD8-positive, alpha-beta T-cell This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. cell owl:Class CL:0000625 biolink:NamedThing CD8-positive, alpha-beta T cell A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. tmpak2llvmy_mondo_relaxed.owl CD8-positive, alpha-beta T-lymphocyte|CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-cell cell owl:Class MONDO:0009057 biolink:NamedThing cyanosis and hepatic disease tmpak2llvmy_mondo_relaxed.owl cyanosis and hepatic disease OMIM:219400|UMLS:C1857443|MESH:C565660 owl:Class GO:0048259 biolink:NamedThing regulation of receptor-mediated endocytosis Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpak2llvmy_mondo_relaxed.owl regulation of receptor mediated endocytosis owl:Class MONDO:0000840 biolink:NamedThing dysbaric osteonecrosis A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism. tmpak2llvmy_mondo_relaxed.owl DON|caisson disease of bone SCTID:431591000124102|DOID:0080018 owl:Class HGNC:8653 biolink:NamedThing PCCA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032813 biolink:NamedThing developmental and epileptic encephalopathy, 79 tmpak2llvmy_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79|epileptic encephalopathy, early infantile, 79|DEE79|EIEE79 OMIM:618559 owl:Class MONDO:0010048 biolink:NamedThing spastic paraplegia with myoclonic epilepsy tmpak2llvmy_mondo_relaxed.owl spastic paraplegia with myoclonic epilepsy OMIM:270805|MESH:C564810|UMLS:C1849114 owl:Class MONDO:0015307 biolink:NamedThing Madras motor neuron disease Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl MMND ICD10:G12.2|Orphanet:137867|GARD:0010742|UMLS:C0393551 owl:Class HGNC:25608 biolink:NamedThing VPS53 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903170 biolink:NamedThing negative regulation of calcium ion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport. tmpak2llvmy_mondo_relaxed.owl inhibition of transmembrane calcium transport|negative regulation of calcium ion membrane transport|down regulation of calcium ion transmembrane transport|down-regulation of transmembrane calcium transport|down-regulation of calcium ion transmembrane transport|downregulation of calcium ion transmembrane transport|down-regulation of calcium ion membrane transport|inhibition of calcium ion membrane transport|down regulation of calcium ion membrane transport|downregulation of calcium ion membrane transport|downregulation of transmembrane calcium transport|inhibition of calcium ion transmembrane transport|down regulation of transmembrane calcium transport|negative regulation of transmembrane calcium transport owl:Class MONDO:0008319 biolink:NamedThing protoporphyria, erythropoietic, 1 Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. tmpak2llvmy_mondo_relaxed.owl heme synthetase deficiency|EPP|EPP1|erythropoietic protoporphyria|protoporphyria, erythropoietic, 1|ferrochelatase deficiency|protoporphyria, erythropoietic|Erythrohepatic protoporphyria OMIM:177000|GARD:0004527|NCIT:C84698 owl:Class GO:0050885 biolink:NamedThing neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. tmpak2llvmy_mondo_relaxed.owl regulation of balance owl:Class MONDO:0003690 biolink:NamedThing adult anaplastic ependymoma An anaplastic ependymoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl anaplastic ependymoma|anaplastic ependymoma of adults|adult anaplastic ependymoma|adult malignant ependymoma|malignant adult ependymoma NCIT:C8269|DOID:5890|UMLS:C0280787 owl:Class MONDO:0024892 biolink:NamedThing soft tissue amyloid neoplasm A soft tissue neoplasm composed of acellular amyloid material. tmpak2llvmy_mondo_relaxed.owl soft tissue amyloid neoplasm|amyloid neoplasm|amyloid tumor (morphologic abnormality)|soft tissue amyloid tumor|amyloid tumor UMLS:C1706802|DOID:6755|UMLS:C0333572|NCIT:C8323|ICD9:714.32 owl:Class UBERON:0009871 biolink:NamedThing nephrogenic zone Outer portion of the renal cortex. Site of formation of medullary and cortical elements. tmpak2llvmy_mondo_relaxed.owl nephrogenic tissue|cortical nephrogenic zone|cortical nephrogenic niche owl:Class MONDO:0015259 biolink:NamedThing brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). tmpak2llvmy_mondo_relaxed.owl brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face|Stratton-Garcia-Young syndrome|brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face Orphanet:1277|UMLS:CN199165|GARD:0005036|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome owl:Class MONDO:0007202 biolink:NamedThing blepharoptosis-myopia-ectopia lentis syndrome This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. tmpak2llvmy_mondo_relaxed.owl blepharoptosis myopia ectopia lentis|blepharoptosis, myopia, and ectopia lentis|dominantly inherited blepharoptosis, high myopia, and ectopia lentis GARD:0000912|UMLS:C1862259|OMIM:110150|ICD10:Q15.8|SCTID:717915004|MESH:C536236|Orphanet:1259 owl:Class UBERON:0034696 biolink:NamedThing fold of peritoneum tmpak2llvmy_mondo_relaxed.owl peritoneal fold|peritoneal outpouching|peritoneal pouch owl:Class MONDO:0003886 biolink:NamedThing mucinous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl mucinous cystadenofibroma UMLS:C1377844|NCIT:C8979|DOID:6468 owl:Class MONDO:0003738 biolink:NamedThing selective IgE deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. tmpak2llvmy_mondo_relaxed.owl selective IgE immunodeficiency|selective immunoglobulin E deficiency UMLS:C0398694|SCTID:234540007|ICD9:279.03|NCIT:C27143|DOID:6024 owl:Class CHEBI:76807 biolink:NamedThing EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). tmpak2llvmy_mondo_relaxed.owl EC 3.5.1.* inhibitor|EC 3.5.1.* inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors owl:Class MONDO:0014736 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Z Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2z|CMT2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth neuropathy, type 2Z|MORC2 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation|Charcot-Marie-Tooth disease, axonal, type 2Z|Charcot-Marie-Tooth neuropathy type 2Z|autosomal dominant Charcot-Marie-Tooth disease type 2Z OMIM:616688|Orphanet:466768|UMLS:C4225243|DOID:0110181 owl:Class MONDO:0015348 biolink:NamedThing leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|Orphanet:139444 owl:Class MONDO:0032899 biolink:NamedThing neutropenia, severe congenital, 8, autosomal dominant tmpak2llvmy_mondo_relaxed.owl NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT|Shwachman-Diamond Syndrome-Like|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities|SCN8 OMIM:618752 owl:Class MONDO:0012825 biolink:NamedThing extraskeletal myxoid chondrosarcoma A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. tmpak2llvmy_mondo_relaxed.owl myxoid extraosseous chondrosarcoma|extraosseous chondrosarcoma|EMC|chondrosarcoma, extraskeletal myxoid|myxoid extraskeletal chondrosarcoma|extraskeletal chondrosarcoma MESH:C563195|SCTID:404079008|OMIM:612237|NCIT:C27502|Orphanet:209916|DOID:6496|ONCOTREE:EMCHS|ICD9:171.9|UMLS:C1275278|ICD10:C49.9 owl:Class MONDO:0019513 biolink:NamedThing esophageal malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:88993 owl:Class MONDO:0021139 biolink:NamedThing congenital or acquired tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008755 biolink:NamedThing Moynahan syndrome tmpak2llvmy_mondo_relaxed.owl alopecia-epilepsy-oligophrenia syndrome of Moynahan|Moynahan alopecia syndrome|alopecia epilepsy oligophrenia syndrome of Moynahan|alopecia-epilepsy-intellectual disability syndrome, Moynahan type MESH:C537052|GARD:0000606|OMIM:203600|ICD10:G40.4|Orphanet:2574 owl:Class MONDO:0002489 biolink:NamedThing malignant breast phyllodes tumor A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. tmpak2llvmy_mondo_relaxed.owl malignant phyllodes tumor of the breast|phyllodes breast tumor|malignant phyllodes tumor of breast|breast phyllodes tumor, malignant|breast malignant phyllodes tumor|malignant phyllodes breast neoplasm|malignant mammary phyllodes neoplasm|phyllodes breast neoplasm|malignant breast phyllodes neoplasm|malignant breast phyllodes tumor|malignant cystosarcoma phyllodes of the breast|phyllodes tumor, malignant (morphologic abnormality)|malignant mammary phyllodes tumor|malignant cystosarcoma phyllodes of breast|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant phyllodes neoplasm of breast|malignant phyllodes neoplasm|malignant cystosarcoma phyllodes|malignant phyllodes tumor (morphologic abnormality)|malignant phyllodes neoplasm of the breast DOID:3016|EFO:0008545|SCTID:254844000|NCIT:C4504|ONCOTREE:MPT owl:Class NCBITaxon:431037 biolink:NamedThing unclassified Roseolovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:29300 biolink:NamedThing KANK2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055025 biolink:NamedThing positive regulation of cardiac muscle tissue development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. tmpak2llvmy_mondo_relaxed.owl up regulation of cardiac muscle development|positive regulation of heart muscle development|up-regulation of cardiac muscle development|stimulation of cardiac muscle development|upregulation of cardiac muscle development|activation of cardiac muscle development owl:Class MONDO:0014066 biolink:NamedThing mitochondrial complex III deficiency nuclear type 5 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. tmpak2llvmy_mondo_relaxed.owl UQCRC2 mitochondrial complex III deficiency|MC3DN5|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|mitochondrial Complex 3 deficiency, nuclear type 5 UMLS:C3554608|DOID:0080114|OMIM:615160 owl:Class MONDO:0024533 biolink:NamedThing pulmonary hypertension, primary, 1 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. tmpak2llvmy_mondo_relaxed.owl pulmonary hypertension, primary, 1|primary pulmonary hypertension caused by mutation in BMPR2|PHT|pulmonary hypertension, primary, Dexfenfluramine-associated|pulmonary arterial hypertension|Pph1 with Hht|PPH1|pulmonary hypertension, primary, Fenfluramine-associated|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|BMPR2 primary pulmonary hypertension OMIM:178600 owl:Class MONDO:0010269 biolink:NamedThing Coats disease Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. tmpak2llvmy_mondo_relaxed.owl Leber miliary aneurysm|retinal telangiectasis|exudative retinopathy|Coats' disease|Coats disease|congenital retinal telangiectasia|Coats' syndrome ICD10:H35.0|ICD10:H35.07|OMIM:300216|SCTID:360455002|MESH:D058456|MedDRA:10015901|ICD10:H35.02|GARD:0006121|UMLS:C0154832|Orphanet:190|ICD9:362.12|DOID:7765 https://rarediseases.info.nih.gov/diseases/6121/coats-disease owl:Class HP:0002135 biolink:NamedThing Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. tmpak2llvmy_mondo_relaxed.owl Calcification of the basal ganglia|Basal ganglion calcification|Basal ganglia calcifications UMLS:C1389280 HP:0002485 human_phenotype owl:Class HP:0002134 biolink:NamedThing Abnormality of the basal ganglia Abnormality of the basal ganglia. tmpak2llvmy_mondo_relaxed.owl Basal ganglia disease|Anomaly of the basal ganglia UMLS:C0004782|SNOMEDCT_US:70835005|MSH:D001480 The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. HP:0007257|HP:0006952 human_phenotype owl:Class CHEBI:33358 biolink:NamedThing cobalt group element atom tmpak2llvmy_mondo_relaxed.owl group 9 elements|cobalt group elements|cobalt group element owl:Class MONDO:0002293 biolink:NamedThing cutaneous ganglioneuroma A ganglioneuroma arising from the skin. tmpak2llvmy_mondo_relaxed.owl skin ganglioneuroma|ganglioneuroma of the skin|ganglioneuroma of skin|cutaneous ganglioneuroma NCIT:C4481|SCTID:254766004|UMLS:C0346063|DOID:2425 owl:Class MONDO:0005033 biolink:NamedThing ganglioneuroma A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. tmpak2llvmy_mondo_relaxed.owl ganglioneuroma (Schwannian Stroma-dominant)|ganglioneuroma, benign|neural Crest tumor, benign|ganglioneuroma (disease)|GN|ganglioneuroma ganglioneuroma (disease) MedDRA:10017709|UMLS:C0017075|SCTID:116371000119107|NCIT:C3049|HP:0003005|DOID:4817|NIFSTD:birnlex_12617|EFO:0000500|ICD10:D36.1|ICDO:9490/0|Orphanet:251992|ICD9:215.9|ONCOTREE:GN owl:Class NCBITaxon:207245 biolink:NamedThing Fornicata tmpak2llvmy_mondo_relaxed.owl Diplomonadida group GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2611341 biolink:NamedThing Metamonada tmpak2llvmy_mondo_relaxed.owl PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class GO:0071417 biolink:NamedThing cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpak2llvmy_mondo_relaxed.owl cellular response to organic nitrogen owl:Class CHEBI:46964 biolink:NamedThing 2-aminooctadec-4-ene-1,3-diol A 2-aminooctadecene-1,3-diol having its double bond at position 4. tmpak2llvmy_mondo_relaxed.owl 2-aminooctadec-4-ene-1,3-diols|2-aminooctadec-4-ene-1,3-diol owl:Class HGNC:1090 biolink:NamedThing DST tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014712 biolink:NamedThing Senior-Loken syndrome 9 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. tmpak2llvmy_mondo_relaxed.owl SLSN9|Senior-Loken syndrome 9; SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|Senior-Loken syndrome type 9|Senior-Loken syndrome 9|TRAF3IP1 Senior-Loken syndrome OMIM:616629|UMLS:C4225263 owl:Class MONDO:0005296 biolink:NamedThing sleep apnea syndrome A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. tmpak2llvmy_mondo_relaxed.owl sleep-disordered breathing|sleep Apneas, mixed|breathing, sleep-disordered|sleep Apneas|mixed sleep apnea|sleep apnea|mixed central and obstructive sleep apnea|sleep disordered breathing|apnea syndrome, sleep|apnea, sleep|hypersomnia with periodic respiration|Apneas, sleep|SDB|sleep apnea syndrome|sleep apnea, mixed|sleep apnea, mixed central and obstructive|sleep hypopnea|sleep hypopneas|hypopnea, sleep|apnea syndromes, sleep|mixed sleep Apneas|hypopneas, sleep|breathing-related sleep disorder EFO:0003877|DOID:0050847|NCIT:C148023|SCTID:73430006|SCTID:111489007|HP:0010535|ICD9:780.57|ICD10:G47.3|MESH:D012891 owl:Class HGNC:473 biolink:NamedThing AMT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032887 biolink:NamedThing neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY|Vandervore-Schot Syndrome|NEDMCMS OMIM:618730 owl:Class UBERON:0003384 biolink:NamedThing skeletal muscle tissue of pharynx A portion of skeletal muscle tissue that is part of a pharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pharynx skeletal muscle tissue|skeletal muscle tissue of pharynx|pharynx skeletal muscle owl:Class MONDO:0011498 biolink:NamedThing schizophrenia 9 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. tmpak2llvmy_mondo_relaxed.owl schizophrenia 9 with or without an affective disorder|schizophrenia 9|schizophrenia susceptibility locus, chromosome 1Q42-related|SCZD9|schizophrenia type 9 DOID:0070085|UMLS:C1858050|OMIM:604906 owl:Class UBERON:0009844 biolink:NamedThing urogenital sinus lumen An anatomical space that surrounded_by a primitive urogenital sinus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007157 biolink:NamedThing arthrogryposis, distal, type 1A tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex congenita, distal, type 1|arthrogryposis, distal, type 1|arthrogryposis, distal, type 1A|DA1A|arthrogryposis multiplex congenita|AMC OMIM:108120|DOID:0111597|SCTID:715314008 owl:Class MONDO:0008758 biolink:NamedThing mitochondrial DNA depletion syndrome 4a Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. tmpak2llvmy_mondo_relaxed.owl AHD|infantile poliodystrophy|neuronal Degeneration of childhood with liver disease, progressive|Alpers syndrome|progressive cerebral poliodystrophy|Alpers progressive infantile poliodystrophy|Alpers disease|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|Alpers Huttenlocher syndrome|Alpers progressive sclerosing poliodystrophy|progressive sclerosing poliodystrophy|Alpers Huttenlocher disease|mitochondrial DNA depletion syndrome 4A (Alpers type)|mitochondrial DNA depletion syndrome type 4a|mitochondrial DNA depletion syndrome 4A|Alper's syndrome|Alpers-Huttenlocher syndrome|AHS|Poliodystrophia cerebri progressiva|MTDPS4A|PNDC|progressive neuronal degeneration of childhood with liver disease|Alper syndrome|diffuse cerebral degeneration in infancy|Alpers' disease or gray-matter degeneration SCTID:20415001|DOID:0080122|DOID:1442|NCIT:C35257|UMLS:C0205710|ICD10:G31.8|Orphanet:726|MedDRA:10062943|ICD10:G31.81|GARD:0005783|ICD9:330.8|OMIM:203700 owl:Class NCIT:C18264 biolink:NamedThing Pathogenesis tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410041 biolink:NamedThing venule of lymph node A venule that is part of a lymph node. tmpak2llvmy_mondo_relaxed.owl lymph node venule owl:Class UBERON:0001304 biolink:NamedThing germinal epithelium of ovary layer of simple cuboidal cells covering surface of ovary[WP]. tmpak2llvmy_mondo_relaxed.owl germinal epithelium (female)|epithelium superficiale (ovarium)|ovary germinal epithelium|ovarian surface epithelium|surface epithelium of ovary|ovary surface epithelium|female coelomic epithelium owl:Class MONDO:0019970 biolink:NamedThing Sinding-Larsen-Johansson disease Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. tmpak2llvmy_mondo_relaxed.owl Osteochondrosis of patella|aseptic necrosis of patella MedDRA:10063585|UMLS:CN206897|ICD10:M92.4|Orphanet:97337 owl:Class MONDO:0044688 biolink:NamedThing isolated optic neuritis tmpak2llvmy_mondo_relaxed.owl ion Orphanet:499096 owl:Class GO:0042713 biolink:NamedThing sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33308 biolink:NamedThing carboxylic ester An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. tmpak2llvmy_mondo_relaxed.owl carboxylic acid esters|carboxylic esters|a carboxylic ester|Carboxylic ester owl:Class MONDO:0019876 biolink:NamedThing 8p inverted duplication/deletion syndrome 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl inverted 8p duplication/deletion syndrome|Invdupdel(8p) SCTID:718188007|Orphanet:96092|ICD10:Q99.8|UMLS:CN206812 owl:Class MONDO:0018252 biolink:NamedThing focal palmoplantar keratoderma with joint keratoses tmpak2llvmy_mondo_relaxed.owl Orphanet:370002|UMLS:CN204827|ICD10:Q82.8 owl:Class MONDO:0006312 biolink:NamedThing myofibroma A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpak2llvmy_mondo_relaxed.owl myofibroma (morphologic abnormality)|myofibroma|infantile hemangiopericytoma|lipoleiomyoma ONCOTREE:MF|DOID:4386|MESH:D047708|ICDO:8824/0|UMLS:C1266121|EFO:1000389|NCIT:C7052 owl:Class HP:0001480 biolink:NamedThing Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpak2llvmy_mondo_relaxed.owl Freckling SNOMEDCT_US:699225003|MSH:D008548|SNOMEDCT_US:403536009|UMLS:C0016689 human_phenotype owl:Class MONDO:0023208 biolink:NamedThing Fuqua Berkovitz syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002415 https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome owl:Class MONDO:0019125 biolink:NamedThing relapsing polychondritis Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. tmpak2llvmy_mondo_relaxed.owl chronic atrophic polychondritis|recurrent polychondritis|chondromalacia, systemic MESH:D011081|MedDRA:10038304|GARD:0007417|UMLS:C0032453|Orphanet:728|ICD9:733.99|DOID:2556|NCIT:C157268|ICD10:M94.1|EFO:1001148|SCTID:72275000 https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis owl:Class HGNC:12305 biolink:NamedThing TRIP11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054754 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl IIAE8|encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8|Herpes simplex encephalitis, Susceptibility to, 6 UMLS:CN865669|OMIM:617900 owl:Class UBERON:0001835 biolink:NamedThing lower lip Lip that covers the lower portion of the mouth.[TAO]. tmpak2llvmy_mondo_relaxed.owl labium inferius oris|lower jaw lip owl:Class MONDO:0018936 biolink:NamedThing osteoblastoma A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. tmpak2llvmy_mondo_relaxed.owl osteoblastoma (disease)|osteoblastoma, benign|giant osteoid osteoma|ossifying giant cell tumor|osteoblastoma osteoblastoma (disease) EFO:1000410|ICD10:D16.4|ICDO:9200/0|HP:0011846|UMLS:C0029417|Orphanet:58040|ICD10:D16.7|DOID:0060098|ICD10:D16.3|ICD10:D16.0|ICD10:D16.5|MedDRA:10004430|NCIT:C3294|ICD10:D16.1|ICD10:D16.8|ICD10:D16.6|MESH:D018215 owl:Class NCBITaxon:451864 biolink:NamedThing Dikarya tmpak2llvmy_mondo_relaxed.owl PMID:16151185|PMID:17010206|GC_ID:1|PMID:17572334|PMID:17051209|PMID:15689432 ncbi_taxonomy owl:Class MONDO:0023655 biolink:NamedThing immunodeficiency 14b, autosomal recessive tmpak2llvmy_mondo_relaxed.owl IMD14B OMIM:619281 owl:Class GO:0030705 biolink:NamedThing cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904018 biolink:NamedThing positive regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. tmpak2llvmy_mondo_relaxed.owl up-regulation of vascular system development|activation of vasculature development|upregulation of vasculature development|upregulation of vascular system development|positive regulation of vascular system development|up regulation of vasculature development|up regulation of vascular system development|activation of vascular system development|up-regulation of vasculature development owl:Class MONDO:0032645 biolink:NamedThing trichohepatoneurodevelopmental syndrome tmpak2llvmy_mondo_relaxed.owl TRICHOHEPATONEURODEVELOPMENTAL SYNDROME|THNS OMIM:618268 owl:Class MONDO:0033541 biolink:NamedThing immunodeficiency 69 tmpak2llvmy_mondo_relaxed.owl IMMUNODEFICIENCY 69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|Ifng Deficiency, Autosomal Recessive|IMD69 OMIM:618963 owl:Class HP:0031047 biolink:NamedThing Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. tmpak2llvmy_mondo_relaxed.owl Monoclonal hypergammaglobulinemia 2017-05-27 14:25:46+00:00 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. peter human_phenotype owl:Class HGNC:14951 biolink:NamedThing PPP1R15B tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000165 biolink:NamedThing neuroendocrine cell An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. tmpak2llvmy_mondo_relaxed.owl neurosecretory cell FMA:83810|BTO:0002691 cell owl:Class MONDO:0008911 biolink:NamedThing cardiac lipidosis, familial tmpak2llvmy_mondo_relaxed.owl cardiac lipidosis, familial OMIM:212080|UMLS:C1859332|MESH:C565884 owl:Class MONDO:0010771 biolink:NamedThing histiocytoid cardiomyopathy Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. tmpak2llvmy_mondo_relaxed.owl infantile cardiomyopathy with histiocytoid change|infantile histiocytoid cardiomyopathy|Arachnocytosis of the myocardium|isolated Cardiac lipidosis|myocardial hamartoma|Purkinje cell hamartoma|cardiomyopathy, focal Lipid|cardiomyopathy, oncocytic|infantile xanthomatous cardiomyopathy|oncocytic cardiomyopathy|focal lipid cardiomyopathy|cardiomyopathy, infantile histiocytoid|foamy myocardial transformation of infancy|congenital cardiomyopathy|histiocytoid cardiomyopathy|cardiomyopathy, infantile xanthomatous UMLS:C1708371|UMLS:CN239812|DOID:0080198|OMIM:500000|ICD10:I42.0|GARD:0009511|NCIT:C45745|MESH:C535584|Orphanet:137675 https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy owl:Class UBERON:0005012 biolink:NamedThing mucosa of left uterine tube A mucosa that is part of a left uterine tube [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left fallopian tube mucosa of organ|left uterine tube organ mucosa|left fallopian tube mucous membrane|left oviduct organ mucosa|mucous membrane of left oviduct|left oviduct mucosa|mucosa of organ of left uterine tube|left uterine tube mucosa|left uterine tube mucous membrane|organ mucosa of left oviduct|mucous membrane of left fallopian tube|mucosa of left oviduct|mucosa of organ of left oviduct|organ mucosa of left uterine tube|left fallopian tube mucosa|left oviduct mucous membrane|mucosa of left fallopian tube|left fallopian tube organ mucosa|left uterine tube mucosa of organ|left oviduct mucosa of organ|organ mucosa of left fallopian tube|mucous membrane of left uterine tube|mucosa of organ of left fallopian tube owl:Class MONDO:0015109 biolink:NamedThing congenital anomaly of the mitral subvalvular apparatus tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.8|Orphanet:101932 owl:Class UPHENO:0001001 biolink:NamedThing phenotype tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020679 biolink:NamedThing conductive hearing loss disorder Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. tmpak2llvmy_mondo_relaxed.owl conductive hearing loss|conductive deafness SCTID:44057004|NCIT:C27645 owl:Class MONDO:0020627 biolink:NamedThing epileptic encephalopathy, infantile or early childhood tmpak2llvmy_mondo_relaxed.owl OMIMPS:617711 See https://github.com/monarch-initiative/mondo/issues/271 owl:Class HP:0040088 biolink:NamedThing Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. tmpak2llvmy_mondo_relaxed.owl Abnormal number of lymphocytes|Abnormal lymphocyte count|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal numbers of lymphocytes UMLS:C0580550|SNOMEDCT_US:165534000 HPO:skoehler human_phenotype owl:Class MONDO:0002585 biolink:NamedThing breast fibrocystic change, proliferative type Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. tmpak2llvmy_mondo_relaxed.owl breast fibrocystic change, proliferative type|proliferating lesion of the breast without atypia|proliferating lesion of breast without atypia|proliferative type fibrocystic change of the breast|benign proliferative breast disease|fibrocystic change, proliferative type with atypia|proliferative type fibrocystic change of breast|proliferative breast lesion|proliferative fibrocystic change|fibrocystic disease, proliferative type with atypia|proliferative breast disease NCIT:C6940|UMLS:C0334056|DOID:3274 owl:Class MONDO:0022578 biolink:NamedThing childhood bladder carcinoma A rare carcinoma of the bladder that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl bladder cancer childhood|bladder cancer|bladder cancer, childhood|childhood bladder carcinoma|childhood bladder cancer|bladder carcinoma, childhood GARD:0009305|NCIT:C118816|UMLS:C3899675 https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood owl:Class MONDO:0011279 biolink:NamedThing autosomal recessive nonsyndromic deafness 17 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 17|deafness, autosomal recessive 17|autosomal recessive deafness 17|DFNB17 DOID:0110472|ICD10:H90.3|MESH:C566418|OMIM:603010|UMLS:C1864276 owl:Class HP:0025033 biolink:NamedThing Abnormality of digestive system morphology A structural anomaly of the digestive system. tmpak2llvmy_mondo_relaxed.owl 2016-08-27 13:58:23+00:00 HPO:probinson human_phenotype owl:Class GO:0042073 biolink:NamedThing intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. tmpak2llvmy_mondo_relaxed.owl IFT|intraflagellar transport involved in cilium organization|intraflagellar transport involved in microtubule-based flagellum organisation|intraflagellar transport owl:Class MONDO:0016559 biolink:NamedThing glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. tmpak2llvmy_mondo_relaxed.owl megalocornea-spherophakia-secondary glaucoma syndrome ICD10:Q15.8|Orphanet:238763|GARD:0010942|UMLS:CN201642 owl:Class PATO:0001995 biolink:NamedThing organismal quality A quality that inheres in an entire organism or part of an organism. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030329 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 5 tmpak2llvmy_mondo_relaxed.owl megacystis-microcolon-intestinal hypoperistalsis syndrome 5|MMIHS5 OMIM:619431 owl:Class MONDO:0018029 biolink:NamedThing congenital factor XIII deficiency Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. tmpak2llvmy_mondo_relaxed.owl deficiency, Laki-Lorand factor|fibrin-stabilizing factor deficiency|factor XIII deficiency|factor XIII deficiency disease|fibrin stabilizing factor deficiency|hereditary factor XIII deficiency disease MESH:D005177|Orphanet:331|SCTID:50189006|ICD9:286.3|ICD10:D68.2|NCIT:C131633|GARD:0010766|DOID:2211 owl:Class MONDO:0016476 biolink:NamedThing Beckwith-Wiedemann syndrome due to CDKN1C mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:231120|ICD10:Q87.3|UMLS:CN201471 owl:Class MONDO:0008158 biolink:NamedThing dacryocystitis-osteopoikilosis syndrome Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). tmpak2llvmy_mondo_relaxed.owl Gunal Seber Basaran syndrome|dacryocystitis osteopoikilosis|Gunal-Seber-Basaran syndrome|osteopoikilosis and dacryocystitis UMLS:C1833698|OMIM:166705|SCTID:721082002|MESH:C536061|GARD:0000351|Orphanet:1562 owl:Class PATO:0001294 biolink:NamedThing radiation reflective quality A scalar EM radiation quality which obtains by the capacity of the bearer to scatter or reflect radiation. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001292 biolink:NamedThing full-spectrum EM radiation quality An EM radiation quality that is independent of the EM wavelength range. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010673 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic|up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|activation of meiosis by positive regulation of transcription from RNA polymerase II promoter owl:Class GO:0010672 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl regulation of meiosis by regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, meiotic owl:Class MONDO:0017349 biolink:NamedThing myopericytoma A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. tmpak2llvmy_mondo_relaxed.owl solitary myofibroma|hemangiopericytoma|MPC ONCOTREE:MPC|Orphanet:289685|UMLS:C1302808|NCIT:C50401|ICDO:8713/1 owl:Class MONDO:0004094 biolink:NamedThing multiple skull base meningioma Multiple meningiomas that affect the skull base. tmpak2llvmy_mondo_relaxed.owl multiple skull base meningiomas NCIT:C5279|DOID:7054|UMLS:C1334829 owl:Class MONDO:0016423 biolink:NamedThing autoimmune polyendocrinopathy type 4 tmpak2llvmy_mondo_relaxed.owl autoimmune polyglandular syndrome type 4|APS type 4|autoimmune polyendocrine syndrome type 4|APS4 SCTID:449730005|UMLS:C3266026|UMLS:CN201378|Orphanet:227990|ICD10:E31.0|ICD9:258.1 owl:Class MONDO:0001275 biolink:NamedThing spinal meningioma Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. tmpak2llvmy_mondo_relaxed.owl spinal cord meningioma|meningioma, spine|meningioma of spinal cord|meningioma (disease) of spinal cord|spinal cord meningioma (disease)|meningioma of the spinal cord UMLS:C0347515|NCIT:C6935|GARD:0010264|SCTID:189167009|DOID:1138 https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma owl:Class MONDO:0017383 biolink:NamedThing familial clubfoot due to PITX1 point mutation tmpak2llvmy_mondo_relaxed.owl hereditary clubfoot due to PITX1 point mutation Orphanet:293150|ICD10:Q66.8|UMLS:CN203110 owl:Class GO:0030030 biolink:NamedThing cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpak2llvmy_mondo_relaxed.owl cell surface structure organization and biogenesis|cell projection organization and biogenesis|cell projection organisation owl:Class CL:0000155 biolink:NamedThing peptic cell A cell that is usually basal in position, cuboidal with round nucleus, short microvilli, secretes pepsinogen. tmpak2llvmy_mondo_relaxed.owl chief cell of stomach|pepsinogen secreting cell|zymogenic cell|gastric chief cell FMA:62902 cell owl:Class MONDO:0005790 biolink:NamedThing hepatitis A virus infection Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. tmpak2llvmy_mondo_relaxed.owl Hepatitis A|hepatitis type A|Hepatitis A infection|viral hepatitis A|viral hepatitis, type A UMLS:C0019159|SCTID:40468003|NCIT:C3096|DOID:12549|MESH:D006506|EFO:0007305 owl:Class GO:0032224 biolink:NamedThing positive regulation of synaptic transmission, cholinergic Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpak2llvmy_mondo_relaxed.owl up-regulation of synaptic transmission, cholinergic|activation of synaptic transmission, cholinergic|stimulation of synaptic transmission, cholinergic|up regulation of synaptic transmission, cholinergic|upregulation of synaptic transmission, cholinergic owl:Class MONDO:0014019 biolink:NamedThing dystonia 24 Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene. tmpak2llvmy_mondo_relaxed.owl DYT24|DYT-ANO3|cranio-cervical dystonia with laryngeal and upper-limb involvement|dystonia type 24|ANO3 dystonic disorder|dystonia 24|dystonic disorder caused by mutation in ANO3 ICD10:G24.8|EFO:0009040|UMLS:C3554374|DOID:0090052|OMIM:615034|Orphanet:420485 Editor note: DO classifies as purely focal owl:Class MONDO:0001133 biolink:NamedThing malignant essential hypertension Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. tmpak2llvmy_mondo_relaxed.owl malignant essential hypertension|accelerated essential hypertension UMLS:C0024588|DOID:10823|ICD9:401.0|SCTID:78975002 owl:Class CL:1000450 biolink:NamedThing epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular capsule. tmpak2llvmy_mondo_relaxed.owl epithelial cell of Bowman's capsule|Bowmans capsule epithelial cell FMA:70966|KUPO:0001034 cell owl:Class GO:0006643 biolink:NamedThing membrane lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. tmpak2llvmy_mondo_relaxed.owl membrane lipid metabolism owl:Class HGNC:15977 biolink:NamedThing HES7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100441 biolink:NamedThing dominant GUCY2D retinopathy A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl GUCY2D central areolar choroidal dystrophy|RCD2|choroidal sclerosis|choroidal dystrophy, central areolar, 1|cone-rod dystrophy type 6|CORD6|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|choroidal dystrophy, central areolar|central areolar choroidal dystrophy caused by mutation in GUCY2D|cone-rod dystrophy caused by mutation in GUCY2D|CACD1|cone-rod dystrophy 6|dominant GUCY2D retinopathy owl:Class HP:0000155 biolink:NamedThing Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. tmpak2llvmy_mondo_relaxed.owl Mouth ulcer|Mouth sore|Oral mucosal ulceration UMLS:C0149745|MSH:D019226|SNOMEDCT_US:26284000 human_phenotype owl:Class HP:0011830 biolink:NamedThing Abnormal oral mucosa morphology Abnormality of the oral mucosa. tmpak2llvmy_mondo_relaxed.owl Abnormality of lining of mouth|Abnormality of oral mucous membrane|Abnormality of mucosa of mouth|Abnormality of oral mucosa UMLS:C4023170 peter 2012-05-01T10:43:40Z human_phenotype owl:Class MONDO:0013631 biolink:NamedThing lung cancer susceptibility 5 tmpak2llvmy_mondo_relaxed.owl LNCR5|lung cancer susceptibility 5 OMIM:614210|UMLS:C3280156 owl:Class MONDO:0030033 biolink:NamedThing seizures, early-onset, with neurodegeneration and brain calcifications tmpak2llvmy_mondo_relaxed.owl SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS|seizures, early-onset, with neurodegeneration and brain calcifications|SENEBAC OMIM:618875 owl:Class MONDO:0006806 biolink:NamedThing intermediate uveitis Inflammation of the pars plana. tmpak2llvmy_mondo_relaxed.owl pars planitis|intermediate uveitis (disease)|peripheral uveoretinitis|intermediate uveitis|chronic cyclitis|IU intermediate uveitis (disease) NCIT:C35110|UMLS:C0042166|Orphanet:279914|EFO:1000986|HP:0012124|ICD10:H30.2|MESH:D015867|SCTID:314429009|DOID:12732|MedDRA:10022557 owl:Class UBERON:0003847 biolink:NamedThing thyroid artery A artery that supplies a thyroid gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043985 biolink:NamedThing central nervous system lupus Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. tmpak2llvmy_mondo_relaxed.owl central nervous system lupus|meningoencephalitis, lupus|neuropsychiatric systemic lupus erythematosus|central nervous system systemic lupus Erythematosis|lupus Meningoencephalitides|central nervous system lupus vasculitis|Meningoencephalitides, lupus|CNS lupus|lupus meningoencephalitis|systemic lupus Erythematosis, central nervous system NCIT:C116919|EFO:1001453|MESH:D020945 owl:Class MONDO:0002671 biolink:NamedThing signet ring cell breast carcinoma An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. tmpak2llvmy_mondo_relaxed.owl primary signet Ring cell carcinoma of the breast|signet ring cell carcinoma of breast|primary SRC breast carcinoma|primary SRC carcinoma of the breast|SRC breast carcinoma|primary signet Ring cell carcinoma of breast|breast signet ring cell carcinoma|signet Ring cell carcinoma of breast|SRC carcinoma of breast|primary signet Ring cell breast carcinoma|primary SRC carcinoma of breast|breast carcinoma with signet ring|signet Ring cell carcinoma of the breast|mammary signet Ring cell carcinoma|signet Ring cell breast carcinoma|breast signet ring cell adenocarcinoma|primary mammary signet Ring cell carcinoma|SRC carcinoma of the breast DOID:3503|ONCOTREE:BRSRCC|NCIT:C5175|UMLS:C1335964 owl:Class MONDO:0001277 biolink:NamedThing cerebral arteritis An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. tmpak2llvmy_mondo_relaxed.owl inflammation of cerebral artery|cerebral artery inflammation ICD9:437.4|DOID:11390|UMLS:C0007773|SCTID:28366008 owl:Class MONDO:0009993 biolink:NamedThing embryonal rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. tmpak2llvmy_mondo_relaxed.owl RMSE1|embryonal rhabdomyosarcoma|ERMS|rhabdomyosarcoma chromosomal region|rhabdomyosarcoma, embryonal, 1|rhabdomyosarcoma embryonal|embryonal rhabdomyosarcoma (disease)|spindle cell rhabdomyosarcomas (type of ERMS)|rhabdomyosarcoma 1|botryoid rhabdomyosarcoma (type of ERMS)|rhabdomyosarcoma, embryonal, type 1 embryonal rhabdomyosarcoma (disease) ONCOTREE:ERMS|GARD:0004702|ICD9:171.9|NCIT:C8971|DOID:3246|OMIM:268210|EFO:0000437|ICD10:C49.9|UMLS:C0206656|ICDO:8910/3|SCTID:404051002|Orphanet:99757|MedDRA:10065868|HP:0006743 owl:Class MONDO:0011231 biolink:NamedThing febrile seizures, familial, 2 tmpak2llvmy_mondo_relaxed.owl FEB2|febrile seizures, familial, 2|convulsions, familial febrile, 2 UMLS:C1865342|MESH:C566541|DOID:0111310|OMIM:602477 owl:Class NCBITaxon:11157 biolink:NamedThing Mononegavirales tmpak2llvmy_mondo_relaxed.owl negative-sense genome single-stranded RNA viruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:11946 biolink:NamedThing TNNI2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002067 biolink:NamedThing female breast upper-inner quadrant cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of upper-inner quadrant of female breast DOID:1647|ICD9:174.2|ICD10:C50.2|SCTID:188152004|UMLS:C0153550 owl:Class MONDO:0006264 biolink:NamedThing laryngeal adenoid cystic carcinoma A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. tmpak2llvmy_mondo_relaxed.owl laryngeal adenoid cystic carcinoma|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the larynx|adenoid cystic carcinoma of larynx NCIT:C9462|DOID:4869|UMLS:C1334368|EFO:1000319 owl:Class MONDO:0019886 biolink:NamedThing distal trisomy 13q Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. tmpak2llvmy_mondo_relaxed.owl distal duplication 13q|telomeric duplication 13q|distal trisomy type 13q|trisomy 13qter SCTID:764454003|Orphanet:96105|ICD10:Q92.3 owl:Class MONDO:0013798 biolink:NamedThing chromosome 16q22 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 16q22 deletion syndrome OMIM:614541|DOID:0060401|UMLS:C3281152 owl:Class MONDO:0010722 biolink:NamedThing X-linked retinal dysplasia tmpak2llvmy_mondo_relaxed.owl PRD|retinal dysplasia, primary|retinal dysplasia X-linked OMIM:312550|ICD10:Q14.1|SCTID:715240000|GARD:0004680|Orphanet:1852|UMLS:C4275241 https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked owl:Class MONDO:0016378 biolink:NamedThing maternal hyperthermia induced birth defects Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. tmpak2llvmy_mondo_relaxed.owl hyperthermia induced defects SCTID:765138001|Orphanet:2216|UMLS:C0265377|GARD:0002856|ICD10:Q86.8 https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects owl:Class MONDO:0008091 biolink:NamedThing abnormal neutrophil chemotactic response tmpak2llvmy_mondo_relaxed.owl neutrophil chemotactic response|neutrophil migration|NM 2022-01-01 OMIM:162820 Reason: out of scope. Term to consider: MONDO:0007883. MONDO:0007883 owl:Class HP:0001051 biolink:NamedThing Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. tmpak2llvmy_mondo_relaxed.owl Seborrhea|Dysseborrheic dermatitis|Seborrheic eczema SNOMEDCT_US:86708008|MSH:D012628|UMLS:C0036508|SNOMEDCT_US:50563003|UMLS:C3806554 Dandruff. HP:0007562 human_phenotype owl:Class HP:0000964 biolink:NamedThing Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. tmpak2llvmy_mondo_relaxed.owl Eczema SNOMEDCT_US:43116000|UMLS:C0013595|SNOMEDCT_US:281104002|MSH:D004485 Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. HP:0001481 human_phenotype owl:Class HGNC:20580 biolink:NamedThing CYP2R1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006358 biolink:NamedThing parotid gland squamous cell carcinoma An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of the parotid|parotid squamous cell carcinoma|squamous cell carcinoma of parotid|squamous cell carcinoma of the parotid gland|squamous cell carcinoma of parotid gland|parotid gland squamous cell carcinoma EFO:1000463|NCIT:C5942|UMLS:C1335367 owl:Class MONDO:0008924 biolink:NamedThing congenital cataract-ichthyosis syndrome Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl cataract and congenital ichthyosis|Syndermotic cataract and congenital ichthyosis UMLS:C1859315|OMIM:212400|MESH:C538281|Orphanet:1376|GARD:0001145 owl:Class MONDO:0008061 biolink:NamedThing nail-patella syndrome A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. tmpak2llvmy_mondo_relaxed.owl NPS1|nail patella syndrome|NPS 1|hereditary onychoostedysplasia|nail-patella syndrome|iliac horn syndrome|Turner-Kieser syndrome|Fong disease|hereditary Osteo-onychodysplasia|Turner-Kiser syndrome|onychoosteodysplasia|arthro-onychodysplasia|NPS|osteo-onychodysplasia DOID:9467|ICD9:759.89|OMIM:161200|ICD10:Q87.2|GARD:0007160|MedDRA:10063431|NCIT:C75120|Orphanet:2614|UMLS:C0027341|MESH:D009261|SCTID:22199006 https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome owl:Class MONDO:0005309 biolink:NamedThing spinal fracture Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. tmpak2llvmy_mondo_relaxed.owl vertebral column bone fracture|bone fracture of vertebral column SCTID:50448004|MESH:D016103|EFO:0003902 owl:Class CL:1000284 biolink:NamedThing smooth muscle fiber of descending colon A smooth muscle cell that is part of the descending colon. tmpak2llvmy_mondo_relaxed.owl non-striated muscle fiber of descending colon FMA:17520 cell owl:Class GO:0043648 biolink:NamedThing dicarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). tmpak2llvmy_mondo_relaxed.owl dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism owl:Class HP:0040064 biolink:NamedThing Abnormality of limbs tmpak2llvmy_mondo_relaxed.owl Abnormal limbs|Dysmelia|Limb anomaly|Abnormality of limbs UMLS:C4073131|UMLS:C0239337|SNOMEDCT_US:445144002 HPO:skoehler human_phenotype owl:Class MONDO:0006260 biolink:NamedThing kidney medullary carcinoma A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl kidney medullary carcinoma|renal medullary carcinoma|renal medulla carcinoma|carcinoma of renal medulla UMLS:CN203938|NCIT:C7572|EFO:1000314|GARD:0013175|ONCOTREE:MRC|MedDRA:10064886|ICD10:C64|Orphanet:319319 MONDO:0017888 owl:Class MONDO:0009814 biolink:NamedThing osteopenia-intellectual disability-sparse hair syndrome Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl osteopenia intellectual disability sparse hair|osteopenia and sparse hair|Kaler Garrity Stern syndrome|osteopenia mental retardation sparse hair|Kaler-Garrity-Stern syndrome OMIM:259690|UMLS:C1850140|MESH:C537706|SCTID:732954002|Orphanet:2324|GARD:0000354 owl:Class CHEBI:28965 biolink:NamedThing dicarboxylic acid dianion A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. tmpak2llvmy_mondo_relaxed.owl dicarboxylate|dicarboxylates|dicarboxylic acid dianion|a dicarboxylate|dicarboxylic acid dianions owl:Class HGNC:17768 biolink:NamedThing TDP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6993 biolink:NamedThing MEF2A tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000648 biolink:NamedThing magma Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002817 biolink:NamedThing Abnormality of the upper limb An abnormality of the arm. tmpak2llvmy_mondo_relaxed.owl Abnormality of the upper limb|Abnormality of the arm UMLS:C4020900 HP:0003838 human_phenotype owl:Class HGNC:16369 biolink:NamedThing PARK7 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0070006 biolink:NamedThing bipolar morphology A cell morphology that inheres in neurons which have two principal fibres (dendrites or axon) that emerge from the soma and begin to branch some distance from it, have few spines, and branch in narrow fields. This is in contrast to bitufted morphology where branching occurs close to the soma. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011840 biolink:NamedThing dilated cardiomyopathy 1M Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, type 1M|CMD1M|dilated cardiomyopathy type 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|cardiomyopathy, dilated, 1M|CSRP3 familial isolated dilated cardiomyopathy DOID:0110449|OMIM:607482|UMLS:C1843808|ICD10:I42.0|MESH:C564390 owl:Class GO:0044092 biolink:NamedThing negative regulation of molecular function Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100307 biolink:NamedThing adult Refsum disease due to PEX7 defect An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene. tmpak2llvmy_mondo_relaxed.owl adult Refsum disease due to PEX7 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:5873 biolink:NamedThing Theileria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:27207 biolink:NamedThing univalent carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. tmpak2llvmy_mondo_relaxed.owl univalent carboacyl groups|univalent carboxylic acyl groups|univalent acyl group owl:Class MONDO:0001436 biolink:NamedThing hemosiderosis Accumulation of iron in internal organs. tmpak2llvmy_mondo_relaxed.owl haemosiderosis DOID:12119|MESH:D006486|UMLS:C0019114|GARD:0006595|NCIT:C82892|SCTID:39011001 https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis owl:Class MONDO:0002279 biolink:NamedThing iron metabolism disease Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) tmpak2llvmy_mondo_relaxed.owl metabolism disorder, iron|metabolism disorders, iron|disorder of iron metabolism|disorders, iron metabolism|disorder, iron metabolism|iron disorder|iron metabolism disorder ICD10:E83.1|SCTID:30913008|ICD10:E83.10|ICD9:275.0|MESH:D019189|UMLS:C0012715|DOID:2351 Editor note: DOID refers to acquired version, consider new class owl:Class MONDO:0014773 biolink:NamedThing cardiac anomalies - developmental delay - facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl intellectual disability and distinctive Facial features with or without Cardiac defects|intellectual disability and distinctive facial features with or without cardiac defects|mental retardation and distinctive Facial features with or without Cardiac defects|intellectual disability and distinctive FACIAL features with or without CARDIAC defects|mental retardation and distinctive FACIAL features with or without CARDIAC defects|MED13L haploinsufficiency syndrome|cardiac anomalies - developmental delay - facial dysmorphism syndrome|MRFACD|MED13L syndrome UMLS:C4225208|ICD10:Q87.8|Orphanet:369891|OMIM:616789|GARD:0012999|HGNC:22962 owl:Class NCBITaxon:144051 biolink:NamedThing Cripavirus tmpak2llvmy_mondo_relaxed.owl Cricket paralysis-like viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:232795 biolink:NamedThing Dicistroviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020586 biolink:NamedThing factor V deficiency A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. tmpak2llvmy_mondo_relaxed.owl factor V deficiency NCIT:C131738|SCTID:4320005 owl:Class GO:0099503 biolink:NamedThing secretory vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0097014 biolink:NamedThing ciliary plasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. tmpak2llvmy_mondo_relaxed.owl cilial cytoplasm|cilium plasm|cilium cytoplasm|microtubule-based flagellum matrix|microtubule-based flagellum cytoplasm|microtubule-based flagellar cytoplasm|ciliary cytoplasm|microtubule-based flagellar matrix owl:Class MONDO:0011257 biolink:NamedThing MPI-CDG MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). tmpak2llvmy_mondo_relaxed.owl MPI-CDG (CDG-Ib)|Mpi deficiency|congenital disorder of glycosylation type IB|phosphomannose isomerase deficiency|Protein-losing enteropathy-hepatic fibrosis syndrome|carbohydrate-deficient glycoprotein syndrome type 1B|CDG-Ib|SLSJ syndrome|congenital disorder of glycosylation, type IB|Saguenay-Lac Saint-Jean syndrome|Saguenay Lac Saint Jean syndrome|carbohydrate deficient glycoprotein syndrome type IB|CDG gastrointestinal type|CDG1B|CDG, gastrointestinal type|CDG Ib|Mannosephosphate isomerase deficiency|CDG syndrome type IB|congenital disorder of glycosylation type 1b|Slsj syndrome|CDG 1B DOID:0080554|ICD9:277.6|MESH:C535740|OMIM:602579|ICD10:E77.8|GARD:0009830|SCTID:124668009|Orphanet:79319 owl:Class MONDO:0009467 biolink:NamedThing natal teeth-intestinal pseudoobstruction-patent ductus syndrome tmpak2llvmy_mondo_relaxed.owl intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth|Natal teeth, intestinal pseudoobstruction and patent ductus OMIM:243185|UMLS:C1855732|GARD:0003928|Orphanet:1654|MESH:C538341|ICD10:Q87.8 owl:Class MONDO:0025003 biolink:NamedThing goat disease Diseases of the domestic or wild goat of the genus Capra. tmpak2llvmy_mondo_relaxed.owl goat disease|disease, goat|diseases, goat|diseases, caprine|caprine disease|caprine diseases|disease, caprine UMLS:C0018018|MESH:D015511 owl:Class MONDO:0015265 biolink:NamedThing bronchiolitis obliterans with obstructive pulmonary disease Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. tmpak2llvmy_mondo_relaxed.owl bronchiolitis fibrosa obliterans|constrictive bronchiolitis|bo|organized pneumonia|organizing pneumonia|bronchiolitis obliterans|BOOP|bronchiolitis exudativa|obliterative bronchiolitis DOID:2799|ICD9:491.8|ICD10:J44.8|UMLS:CN199179|EFO:0007183|Orphanet:1303|SCTID:40100001|GARD:0009551|HP:0011946|NCIT:C62580|ICD9:466.19 Editor note: TODO check this MONDO:0005681 owl:Class FOODON:00002196 biolink:NamedThing refined or partially-refined food product tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030432 biolink:NamedThing peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0014821 biolink:NamedThing phasic smooth muscle contraction A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010659 biolink:NamedThing FRAXE intellectual disability FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. tmpak2llvmy_mondo_relaxed.owl fragile site, folic acid type|FRAXE intellectual disability syndrome|FRAXE mental retardation syndrome|intellectual disability associated with fragile site FRAXE|X-linked mental retardation associated with fragile site FRAXE|fragile XE syndrome|FRAXE intellectual disability|intellectual disability, X-linked, associated with fragile site FRAXE|X-linked intellectual disability associated with fragile site FRAXE|mental retardation, X-linked, associated with fragile site FRAXE|FRAXE syndrome GARD:0002378|UMLS:C0751157|SCTID:716709002|Orphanet:100973|OMIM:309548 https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome owl:Class HGNC:6284 biolink:NamedThing KCNMA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0027068 biolink:NamedThing mitochondrial complex 1 deficiency, mitochondrial type 1 Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. tmpak2llvmy_mondo_relaxed.owl MC1DM1|mitochondrial complex I deficiency, mitochondrial type 1 OMIM:500014 owl:Class MONDO:0100134 biolink:NamedThing mitochondrial complex I deficiency, mitochondrial type tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0044709 biolink:NamedThing cochleovestibular dysplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:502305 owl:Class MONDO:0015604 biolink:NamedThing middle ear anomaly tmpak2llvmy_mondo_relaxed.owl MedDRA:10060957|Orphanet:164004|ICD10:Q16.4|ICD10:Q16.3 owl:Class MONDO:0001761 biolink:NamedThing favism A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. tmpak2llvmy_mondo_relaxed.owl NCIT:C34607|SCTID:191172001|MESH:D005236|UMLS:C0015702|ICD10:D55.0|DOID:13628 owl:Class GO:0022839 biolink:NamedThing ion gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014453 biolink:NamedThing gustatory epithelium of palate A gustatory epithelium that is part of a roof of mouth. tmpak2llvmy_mondo_relaxed.owl palatal gustatory epithelium owl:Class MONDO:0019680 biolink:NamedThing genochondromatosis type 2 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. tmpak2llvmy_mondo_relaxed.owl UMLS:C4511481|SCTID:725904009|UMLS:CN206604|Orphanet:93398 owl:Class CHEBI:38716 biolink:NamedThing carboxylic acid dianion Any dianion containing at least one carboxy group. tmpak2llvmy_mondo_relaxed.owl carboxylic acid dianion|carboxylic acid dianions owl:Class UBERON:0002089 biolink:NamedThing thoracodorsal vein companion vein of the thoracodorsal artery, draining the apical part of the latissimus dorsi and merging with the circumflex scapular vein to form a subscapular vein tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001561 biolink:NamedThing pyloric stenosis Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpak2llvmy_mondo_relaxed.owl GOO|gastric outlet obstruction|gastric outflow obstruction|pyloric stenosis (disease)|pyloric stenosis pyloric stenosis (disease) MESH:D011707|EFO:1000947|MESH:D017219|SCTID:367403001|NCIT:C34966|HP:0002021|ICD10:K31.1|DOID:3122|DOID:12639|MedDRA:10062499 owl:Class MONDO:0016746 biolink:NamedThing meningeal melanocytoma A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative. tmpak2llvmy_mondo_relaxed.owl meninges melanocytoma|melanocytoma of meninges|melanocytoma of the meninges|leptomeningeal melanocytoma EFO:1000370|SCTID:277527003|DOID:5900|Orphanet:252046|UMLS:C1266113|NCIT:C4662|ICDO:8728/1 owl:Class MONDO:0017722 biolink:NamedThing Sandhoff disease, juvenile form tmpak2llvmy_mondo_relaxed.owl Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant ICD10:E75.0|Orphanet:309162|UMLS:CN203618 owl:Class MONDO:0004346 biolink:NamedThing signet ring cell intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. tmpak2llvmy_mondo_relaxed.owl signet Ring cell intrahepatic cholangiocarcinoma DOID:7733|NCIT:C41619|UMLS:C1519321 owl:Class CHEBI:33847 biolink:NamedThing monocyclic arene A monocyclic aromatic hydrocarbon. tmpak2llvmy_mondo_relaxed.owl monocyclic arenes owl:Class MONDO:0100291 biolink:NamedThing early T cell progenitor acute lymphoblastic leukemia T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. tmpak2llvmy_mondo_relaxed.owl ETP ALL|early T-cell precursor lymphoblastic leukemia|early T-cell precursor acute lymphoblastic leukemia|ETP-ALL|early T acute lymphoblastic leukemia UMLS:C4329780|NCIT:C130043 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2763 owl:Class MONDO:0009917 biolink:NamedThing autosomal recessive pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. tmpak2llvmy_mondo_relaxed.owl PHA1B|generalized PHA1|PHA I, autosomal recessive|autosomal recessive PHA 1|pseudohypoaldosteronism type 1, recessive|autosomal recessive pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1 autosomal recessive|generalized pseudohypoaldosteronism type 1|pseudohypoaldosteronism, type I, autosomal recessive OMIM:264350|GARD:0004552|ICD10:N25.8|DOID:0060854|Orphanet:171876 https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 owl:Class MONDO:0019161 biolink:NamedThing pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. tmpak2llvmy_mondo_relaxed.owl pseudohypoaldosteronism type I autosomal recessive|PHA type 1|PHA1B Orphanet:756|ICD9:275.8|NCIT:C123251|UMLS:C0268436|SCTID:43941006|ICD10:N25.8 owl:Class PATO:0002078 biolink:NamedThing hollow A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002014 biolink:NamedThing structure, cavities A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013167 biolink:NamedThing parkinson disease 16 tmpak2llvmy_mondo_relaxed.owl PARK16|Parkinson disease 16 OMIM:613164|MESH:C567726|UMLS:C2751012 owl:Class MONDO:0014054 biolink:NamedThing lymphoproliferative syndrome 2 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. tmpak2llvmy_mondo_relaxed.owl lymphoproliferative syndrome 2|lymphoproliferative syndrome type 2|LPFS2|CD27 lymphoproliferative syndrome|lymphoproliferative syndrome caused by mutation in CD27 OMIM:615122|UMLS:C3554540|DOID:0060708|ICD10:D47.9 owl:Class MONDO:0014409 biolink:NamedThing intellectual disability, autosomal recessive 44 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. tmpak2llvmy_mondo_relaxed.owl METTL23 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 44|mental retardation, autosomal recessive type 44|intellectual disability, autosomal recessive type 44|MRT44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|mental retardation, autosomal recessive 44 UMLS:C4014745|OMIM:615942 owl:Class MONDO:0030029 biolink:NamedThing skeletal dysplasia, mild, with joint laxity and advanced bone age tmpak2llvmy_mondo_relaxed.owl SDJLABA|SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE|skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870 owl:Class MONDO:0010256 biolink:NamedThing intellectual disability, X-linked 21 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 34|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|mental retardation, X-linked 34|intellectual disability, X-linked type 21|MRX21|mental retardation, X-linked type 21|intellectual disability, X-linked 21|IL1RAPL1 non-syndromic X-linked intellectual disability|mental retardation, X-linked 21 OMIM:300143 owl:Class MONDO:0014737 biolink:NamedThing dehydrated hereditary stomatocytosis 2 Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene. tmpak2llvmy_mondo_relaxed.owl KCNN4 dehydrated hereditary stomatocytosis|Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|Dehydrated hereditary stomatocytosis type 2|DHS2|dehydrated hereditary stomatocytosis 2; DHS2|Desiccytosis Gardos|dehydrated hereditary stomatocytosis caused by mutation in KCNN4 UMLS:C4225242|DOID:0111577|OMIM:616689 owl:Class MONDO:0008348 biolink:NamedThing pulmonary nodular lymphoid hyperplasia Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. tmpak2llvmy_mondo_relaxed.owl pulmonary nodular lymphoid hyperplasia, familial|pulmonary pseudolymphoma OMIM:178610|SCTID:718097008|Orphanet:60026|UMLS:C1334969|UMLS:C1867419 owl:Class MONDO:0100101 biolink:NamedThing fetal akinesia deformation sequence 1 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. tmpak2llvmy_mondo_relaxed.owl Pena-Shokeir syndrome, type 1|Pena-Shokeir syndrome type 1|FADS1 Orphanet:994|DOID:0111377|OMIM:208150 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0001869 biolink:NamedThing negative regulation of complement activation, lectin pathway Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway. tmpak2llvmy_mondo_relaxed.owl down-regulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway|inhibition of complement activation, lectin pathway|down regulation of complement activation, lectin pathway|downregulation of complement activation, lectin pathway owl:Class NCBITaxon:1980486 biolink:NamedThing Puumala orthohantavirus tmpak2llvmy_mondo_relaxed.owl nephropathia epidemica virus|Puumala virus|Puumalavirus|Puumala hantavirus|Puumala virus PV GC_ID:1 NCBITaxon:11604 ncbi_taxonomy owl:Class MONDO:0011511 biolink:NamedThing clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia tmpak2llvmy_mondo_relaxed.owl clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia|Chzam OMIM:605040|UMLS:C1857942|MESH:C565729 owl:Class MONDO:0009476 biolink:NamedThing atresia of small intestine Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases. tmpak2llvmy_mondo_relaxed.owl Jejunoileal atresia|familial apple peel jejunal atresia|atresia of the small intestine|APSB|apple-peel intestinal atresia|intestinal atresia type IIIb|jejunal atresia|apple peel small bowel syndrome|small intestine atresia|congenital small intestine atresia|congenital atresia of the small intestine|apple peel syndrome|small intestinal atresia GARD:0000140|UMLS:C0266172|MedDRA:10010626|ICD10:Q41.2|NCIT:C98828|ICD10:Q41.0|MESH:C538260|ICD10:Q41.9|ICD10:Q41.1|ICD10:Q41.8|GARD:0006799|Orphanet:1201|OMIM:243600 owl:Class MONDO:0001472 biolink:NamedThing testicular lymphoma A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. tmpak2llvmy_mondo_relaxed.owl TLYM|primary testicular lymphoma|lymphoma of the testis|malignant lymphoma of testis|lymphoma of testis|testicular lymphoma ICD9:186.9|UMLS:C0349644|ONCOTREE:TLYM|NCIT:C6810|SCTID:277664004|DOID:12253 owl:Class MONDO:0019875 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microduplication tmpak2llvmy_mondo_relaxed.owl Orphanet:96076|UMLS:CN206810|ICD10:Q87.3 owl:Class MONDO:0009530 biolink:NamedThing lipoid proteinosis Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. tmpak2llvmy_mondo_relaxed.owl lipoid proteinosis of Urbach and Wiethe|lipoproteinosis|lipoid proteinosis|lipid proteinosis|Urbach-Wiethe disease|hyalinosis cutis Et mucosae|Urbach Wiethe disease|hyalinosis cutis et mucosae UMLS:C0023795|OMIM:247100|MESH:D008065|GARD:0003268|DOID:14498|ICD10:E78.8|ICD9:272.8|NCIT:C84829|Orphanet:530|SCTID:38692000 owl:Class NCIT:C16152 biolink:NamedThing HER2/Neu Status tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C94299 biolink:NamedThing Receptor Status tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007297 biolink:NamedThing ADan amyloidosis A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. tmpak2llvmy_mondo_relaxed.owl cerebral amyloid angiopathy, ITM2B-related, type 2|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial Danish dementia|FDD|Heredopathia Ophthalmootoencephalica|familial dementia, Danish type|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|ITM2B-related cerebral amyloid angiopathy 2|cerebral amyloid angiopathy, ITM2B-RELATED, 2|dementia, familial Danish|HOOE OMIM:117300|ICD10:E85.4+|GARD:0009169|MESH:C538209|UMLS:C1861735|ICD10:I68.0*|DOID:0070030|Orphanet:97346 owl:Class ECTO:7000020 biolink:NamedThing exposure to sand A exposure event involving the interaction of an exposure receptor to sand. tmpak2llvmy_mondo_relaxed.owl sand exposure owl:Class CHEBI:17996 biolink:NamedThing chloride A halide anion formed when chlorine picks up an electron to form an an anion. tmpak2llvmy_mondo_relaxed.owl Cl(-)|Chloride(1-)|Chloride ion|CHLORIDE ION|Chloride|chloride(1-)|chloride|Cl-|Chlorine anion owl:Class MONDO:0018130 biolink:NamedThing brain dopamine-serotonin vesicular transport disease Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. tmpak2llvmy_mondo_relaxed.owl Orphanet:352649|ICD10:G25.8|UMLS:C4303546|UMLS:CN204508|SCTID:717942003 owl:Class NCBITaxon:2732551 biolink:NamedThing Stellavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732507 biolink:NamedThing Stelpaviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009800 biolink:NamedThing Blount disease, adolescent tmpak2llvmy_mondo_relaxed.owl Osteochondrosis deformans tibiae, adolescent|tibia vara, adolescent|Blount disease, adolescent UMLS:C3151572|OMIM:259200 owl:Class MONDO:0017194 biolink:NamedThing Blount disease Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. tmpak2llvmy_mondo_relaxed.owl Erlacher-Blount syndrome|Blount disease|tibia vara Blount|Osteochondrosis deformans tibiae, familial infantile type|tibia vara|Osteochondrosis deformans tibiae|Blount-Barber syndrome|Blount's disease|infantile tibia vara|familial infantile type osteochondrosis deformans tibiae NCIT:C118460|GARD:0000916|ICD10:M92.5|MESH:C536237|DOID:14798|MedDRA:10072255|ICD9:736.89|Orphanet:2768|SCTID:79353000 https://rarediseases.info.nih.gov/diseases/916/blount-disease owl:Class MONDO:0007862 biolink:NamedThing Waardenburg syndrome type 3 Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome with limb anomalies|White forelock (poliosis) syndrome with multiple congenital malformations|Waardenburg syndrome type III|Klein-Waardenburg syndrome|WS3|Waardenburg syndrome with upper limb anomalies|Waardenburg syndrome, type 3 ICD10:E70.3|OMIM:148820|DOID:0110949|Orphanet:896|GARD:0005523 https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 owl:Class MONDO:0010554 biolink:NamedThing Abruzzo-Erickson syndrome Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. tmpak2llvmy_mondo_relaxed.owl Abruzzo-Erickson syndrome|CHARGE-like syndrome, X-linked|ABERS|CHARGE like syndrome X-linked|cleft palate-coloboma-deafness syndrome|CHARGE-like syndrome ICD10:Q87.8|UMLS:C1844862|SCTID:718574003|GARD:0000360|Orphanet:921|MESH:C535559|OMIM:302905 https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome owl:Class GO:1901569 biolink:NamedThing fatty acid derivative catabolic process The chemical reactions and pathways resulting in the breakdown of fatty acid derivative. tmpak2llvmy_mondo_relaxed.owl fatty acid derivative degradation|fatty acid derivative catabolism|fatty acid derivative breakdown owl:Class GO:1901568 biolink:NamedThing fatty acid derivative metabolic process The chemical reactions and pathways involving fatty acid derivative. tmpak2llvmy_mondo_relaxed.owl fatty acid derivative metabolism owl:Class MONDO:0006255 biolink:NamedThing intimal sarcoma A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl INTS UMLS:C1708550|EFO:1000305|ONCOTREE:INTS|NCIT:C53677 owl:Class MONDO:0016060 biolink:NamedThing laryngotracheoesophageal cleft A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. tmpak2llvmy_mondo_relaxed.owl tracheal cleft|laryngo-tracheo-esophageal cleft|Larnygeotracheoesophageal cleft|LTEC|laryngeal cleft|LC|congenital cleft larynx|laryngo-tracheo-esophageal diastema ICD10:Q32.1|Orphanet:2004|NCIT:C98622|MESH:C537875|GARD:0003188|SCTID:232461002 owl:Class MONDO:0012045 biolink:NamedThing myopia 5, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP5|myopia 5, autosomal dominant UMLS:C1837972|OMIM:608474|MESH:C563922 owl:Class MONDO:0007342 biolink:NamedThing clubfoot The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. tmpak2llvmy_mondo_relaxed.owl equinovarus deformity of foot|club foot|talipes equinovarus|equinovarus deformity of foot (finding)|congenital clubfoot|congenital equinovarus|congenital talipes equinovarus|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|talipes|clubbed foot|CCF ICD9:754.51|OMIM:119800|DOID:11836|SCTID:397932003|ICD10:Q66.0|MESH:D003025|NCIT:C84641|ICD10:Q66.89 owl:Class MONDO:0004946 biolink:NamedThing hypoglycemia Abnormally low level of glucose in the blood. tmpak2llvmy_mondo_relaxed.owl low blood glucose|hypoglycaemia|glucose, Low blood|blood glucose, Low ICD10:E16.2|UMLS:C0020615|ICD9:251.1|MESH:D007003|DOID:9993|SCTID:302866003|NCIT:C3126|ICD9:251.2 owl:Class MONDO:0006838 biolink:NamedThing lupus vulgaris A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. tmpak2llvmy_mondo_relaxed.owl EFO:1001023|MESH:D008177|MedDRA:10025143|SCTID:10528009|UMLS:C0024131 owl:Class MONDO:0021091 biolink:NamedThing papillary cystadenoma A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures. tmpak2llvmy_mondo_relaxed.owl papillary cystadenoma|cystadenoma, papillary, benign UMLS:C0010636|MESH:D018292|NCIT:C2974|ICDO:8450/0 owl:Class MONDO:0001648 biolink:NamedThing esophageal candidiasis Esophagitis resulting from Candida. tmpak2llvmy_mondo_relaxed.owl esophageal moniliasis|esophageal thrush|candidal esophagitis|Candida esophagitis|candidiasis of the esophagus ICD9:112.84|UMLS:C0239295|NCIT:C27027|DOID:13146|SCTID:20639004|ICD10:B37.81 owl:Class MONDO:0020764 biolink:NamedThing Brown-Pearce carcinoma tmpak2llvmy_mondo_relaxed.owl Brown-Pearce tumor|carcinoma, Brown-Pearce|epithelioma, Brown Pearce|Brown-Pearce carcinoma|Brown-Pearce epithelioma|epithelioma, Brown-Pearce|carcinoma, Brown Pearce MESH:D002284|UMLS:C0007122|EFO:1001278 owl:Class MONDO:0054743 biolink:NamedThing polycystic liver disease 3 with or without kidney cysts Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. tmpak2llvmy_mondo_relaxed.owl PCLD3|polycystic liver disease 3 with or without kidney cysts UMLS:CN818986|OMIM:617874 owl:Class MONDO:0019931 biolink:NamedThing Leydig cell hypoplasia due to partial LH resistance tmpak2llvmy_mondo_relaxed.owl Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY DSD due to partial luteinizing hormone resistance|46,XY DSD due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|46,XY disorder of sex developement due to partial luteinizing hormone resistance|46,XY DSD due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone resistance UMLS:CN206848|Orphanet:96266|ICD10:Q56.1 owl:Class HGNC:24725 biolink:NamedThing FAM111A tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0007957 biolink:NamedThing Corneal opacity A reduction of corneal clarity. tmpak2llvmy_mondo_relaxed.owl Scarring or clouding of the cornea of the eye|Corneal clouding|Reduction of corneal clarity|Corneal opacities MSH:D003318|SNOMEDCT_US:95735008|SNOMEDCT_US:64634000|UMLS:C0010038|UMLS:C0521719|SNOMEDCT_US:413921009 HP:0007883|HP:0008502|HP:0007844 human_phenotype owl:Class MONDO:0009663 biolink:NamedThing mucus inspissation of respiratory tract tmpak2llvmy_mondo_relaxed.owl mucus inspissation of respiratory tract MESH:C565366|OMIM:253240|UMLS:C1854729 owl:Class HGNC:16882 biolink:NamedThing HCN4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18025 biolink:NamedThing COA6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001605 biolink:NamedThing ciliary muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl musculus ciliaris|musculus ciliarus|ciliaris|Bowman`s muscles owl:Class OBO:CHR_9606-chr8q2 biolink:NamedThing chr8q2 (Human) tmpak2llvmy_mondo_relaxed.owl 145138636 72000000 hg38 owl:Class MONDO:0013258 biolink:NamedThing autism, susceptibility to, 16 tmpak2llvmy_mondo_relaxed.owl autism with or without seizures|autism, susceptibility to, 16|autism, susceptibility to, type 16|susceptibility to autism 16|AUTS16 OMIM:613410 owl:Class HGNC:20653 biolink:NamedThing SLC9A9 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0038024 biolink:NamedThing cargo receptor activity Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles. tmpak2llvmy_mondo_relaxed.owl transport receptor activity|receptor activity involved in receptor-mediated endocytosis|receptor activity|endocytic receptor activity owl:Class HGNC:3054 biolink:NamedThing DSPP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011948 biolink:NamedThing pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. tmpak2llvmy_mondo_relaxed.owl PCH3|PCH without dyskinesia|PCLO non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|clam|cerebellar atrophy with progressive microcephaly|pontocerebellar hypoplasia, type 3|PCH with optic atrophy|Pch with optic atrophy MESH:C548072|DOID:0060272|UMLS:C1842687|SCTID:718609003|ICD10:Q04.3|Orphanet:97249|GARD:0010708|OMIM:608027 https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 owl:Class HGNC:13406 biolink:NamedThing PCLO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004806 biolink:NamedThing chronic eosinophilic pneumonia Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. tmpak2llvmy_mondo_relaxed.owl eosinophilic pneumonia, chronic|cryptogenic pulmonary eosinophilia DOID:9502|NCIT:C34471|SCTID:233692000 owl:Class MONDO:0008961 biolink:NamedThing Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. tmpak2llvmy_mondo_relaxed.owl CMT4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|Charcot Marie Tooth disease type 4A|Charcot-Marie-Tooth disease, type 4A|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth neuropathy, type 4A|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|GDAP1 Charcot-Marie-Tooth disease type 4 ICD10:G60.0|SCTID:715796006|UMLS:C1859198|OMIM:214400|Orphanet:99948|DOID:0110185|GARD:0001252|MESH:C535419 https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a owl:Class HP:0002023 biolink:NamedThing Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. tmpak2llvmy_mondo_relaxed.owl Imperforate anus|Absent anus SNOMEDCT_US:204712000|MSH:D001006|Fyler:4402|MEDDRA:10002120|SNOMEDCT_US:204731006|UMLS:C0003466|Fyler:4443 HP:0001550 human_phenotype owl:Class UBERON:0011119 biolink:NamedThing carpometacarpal joint The carpometacarpal joints (CMC) are joints in the wrist that articulates the distal row of carpal bones and the proximal bases of the metacarpal bones. tmpak2llvmy_mondo_relaxed.owl articulationes carpometacarpeæ|carpometacarpal articulation|carpometacarpal|CMJ owl:Class CL:0002434 biolink:NamedThing CD24-positive, CD8 single-positive thymocyte A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpak2llvmy_mondo_relaxed.owl T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:59:10Z cell owl:Class OBO:CHR_9606-chr16p12 biolink:NamedThing chr16p12 (Human) tmpak2llvmy_mondo_relaxed.owl 28500000 16700000 hg38 owl:Class OBO:CHR_9606-chr16p1 biolink:NamedThing chr16p1 (Human) tmpak2llvmy_mondo_relaxed.owl 36800000 0 hg38 owl:Class UBERON:0004470 biolink:NamedThing musculature of pelvic girdle Any collection of muscles that is part of a pelvic girdle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl set of muscles of pelvis|pelvic girdle musculature|set of muscles of pelvic girdle|muscle group of pelvic girdle|muscle group of pelvis|muscular system of pelvis|pelvic girdle muscle system|pelvic girdle muscles owl:Class NCBITaxon:5207 biolink:NamedThing Cryptococcus neoformans tmpak2llvmy_mondo_relaxed.owl Lipomyces neoformans|Blastomyces neoformans|Torula neoformans|Filobasidiella neoformans|Saccharomyces neoformans|Torulopsis neoformans|Debaryomyces neoformans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014548 biolink:NamedThing long QT syndrome 14 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome caused by mutation in CALM1|long QT syndrome 14|LQT14|CALM1 long QT syndrome|long QT syndrome type 14 UMLS:C4015671|ICD10:I45.8|DOID:0110655|OMIM:616247 owl:Class MONDO:0012801 biolink:NamedThing autism, susceptibility to, 15 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, type 15|susceptibility to autism 15|AUTS15|autism, susceptibility to, 15 OMIM:612100 owl:Class MONDO:0020125 biolink:NamedThing acquired neuromuscular junction disease An instance of neuromuscular junction disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired neuromuscular junction disease Orphanet:98494|UMLS:CN207015 owl:Class GO:0017168 biolink:NamedThing 5-oxoprolinase (ATP-hydrolyzing) activity Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. tmpak2llvmy_mondo_relaxed.owl oxoprolinase activity|5-oxoprolinase (ATP-hydrolysing)|5-oxoprolinase activity|pyroglutamase (ATP-hydrolyzing) activity|5-OPase activity|5-oxo-L-proline amidohydrolase (ATP-hydrolysing)|pyroglutamic hydrolase activity|pyroglutamase activity|5-oxo-L-prolinase activity|pyroglutamate hydrolase activity|L-pyroglutamate hydrolase activity|pyroglutamase (ATP-hydrolysing) owl:Class MONDO:0100144 biolink:NamedThing Uner Tan Syndrome A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. tmpak2llvmy_mondo_relaxed.owl recessive quadrupedalism owl:Class HGNC:30829 biolink:NamedThing TUBB2B tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100774 biolink:NamedThing Hyperostosis Excessive growth or abnormal thickening of bone tissue. tmpak2llvmy_mondo_relaxed.owl Bone Hypertrophy|Bone overgrowth UMLS:C0020492|SNOMEDCT_US:13814009|MSH:D015576|SNOMEDCT_US:203514008 Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). doelkens 2011-06-07T05:17:19Z human_phenotype owl:Class UBERON:0009124 biolink:NamedThing geniculate placode Rostralmost epibranchial placode. Associated with 1st branchial cleft. tmpak2llvmy_mondo_relaxed.owl facial VII placode|hyoid placode|facial epibranchial placode|hyoid VII placode|facial placode|epibranchial placode 1 owl:Class HGNC:14604 biolink:NamedThing AMN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008420 biolink:NamedThing buccal epithelium An epithelium that is part of a buccal mucosa. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010549 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. tmpak2llvmy_mondo_relaxed.owl X-linked Charcot-Marie-Tooth disease type 1|CMTX|Charcot-Marie-Tooth disease X-linked dominant type 1|CMT2|CMT1X|Charcot-Marie-Tooth neuropathy X type 1|HMSN, X-linked|Charcot-Marie-Tooth disease, X-linked dominant, 1|Charcot-Marie-Tooth neuropathy X-linked dominant 1|hereditary motor and sensory neuropathy, X-linked|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|CMTX1|Charcot-Marie-Tooth neuropathy, X-linked, 1|CMT2, formerly|CMTX 1|Charcot-Marie-Tooth disease, X-linked, 1|Charcot Marie Tooth disease X-linked 1|GJB1 Charcot-Marie-Tooth disease type X|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|Charcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease, X-linked dominant, type 1 DOID:0110209|OMIM:302800|NCIT:C129068|UMLS:C0393808|ICD10:G60.0|Orphanet:101075|SCTID:763455008|GARD:0001258 owl:Class MONDO:0015011 biolink:NamedThing optic atrophy 11 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. tmpak2llvmy_mondo_relaxed.owl optic atrophy type 11|OPA11|optic atrophy 11|YME1L1 autosomal recessive isolated optic atrophy|autosomal recessive isolated optic atrophy caused by mutation in YME1L1 UMLS:C4310628|DOID:0111436|OMIM:617302|UMLS:CN230145 owl:Class HGNC:12843 biolink:NamedThing YME1L1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:64320 biolink:NamedThing Zika virus tmpak2llvmy_mondo_relaxed.owl ZIKV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017181 biolink:NamedThing hypnic headache Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. tmpak2llvmy_mondo_relaxed.owl hypnic headache|hypnic headache (disease) hypnic headache (disease) ICD9:339.81|GARD:0010796|SCTID:122711000119109|HP:0012459|ICD10:G44.8|Orphanet:276429|MESH:D051270 owl:Class HGNC:30664 biolink:NamedThing CLPB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002776 biolink:NamedThing external ear disease A disease involving the external ear. tmpak2llvmy_mondo_relaxed.owl external ear disease or disorder|disorder of external ear|preauricular cyst|preauricular sinus and fistula|external ear disorder|external ear disease|disease of external ear|disease or disorder of external ear|preauricular cyst (disorder)|preauricular sinus or fistula NOS (disorder)|preauricular sinus or fistula|preauricular sinus and fistula (disorder) SCTID:49130001|ICD10:H61.9|ICD10:H60-H62|ICD9:380.9|ICD10:H60.H62|NCIT:C26972|UMLS:C0155388|ICD9:744.47|DOID:379|ICD9:380 owl:Class MONDO:0004708 biolink:NamedThing esophagus carcinoma in situ Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) tmpak2llvmy_mondo_relaxed.owl stage 0 carcinoma of the esophagus|esophagus in situ carcinoma|carcinoma in situ of esophagus|stage 0 esophagus carcinoma|severe esophageal dysplasia|esophageal carcinoma in situ aJCC v7|esophageal carcinoma in situ|stage 0 esophageal carcinoma in situ|severe esophageal dysplasia aJCC v7|stage 0 esophageal cancer aJCC v7|stage 0 esophageal cancer SCTID:92585006|NCIT:C89771|UMLS:C0154059|DOID:9095|ICD10:D00.1|ICD9:230.1 owl:Class MONDO:0013878 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. tmpak2llvmy_mondo_relaxed.owl PFBMFT1|TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 OMIM:614742|EFO:1001501|UMLS:C3553617 owl:Class UBERON:0012254 biolink:NamedThing abdominal aorta artery An artery that originates from the abdominal aorta tmpak2llvmy_mondo_relaxed.owl abdominal artery|artery of abdomen owl:Class UBERON:0000309 biolink:NamedThing body wall The external portion of an animal body derived from ectoderm and mesoderm layers that encloses the body cavity. tmpak2llvmy_mondo_relaxed.owl trunk wall|wall of trunk|wall fo trunk owl:Class UBERON:0018254 biolink:NamedThing skeletal musculature tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016287 biolink:NamedThing adenoid basal carcinoma of the cervix uteri A skin adenoid basal cell carcinoma that involves the uterine cervix. tmpak2llvmy_mondo_relaxed.owl cervical adenoid basal carcinoma|uterine cervix skin adenoid basal cell carcinoma|skin adenoid basal cell carcinoma of uterine cervix UMLS:CN201077|ICD10:C53.0|ICD10:C53.8|ICD10:C53.1|Orphanet:213828 owl:Class MONDO:0012435 biolink:NamedThing 3-methylglutaconic aciduria type 5 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. tmpak2llvmy_mondo_relaxed.owl 3-methylglutaconic aciduria type 5|dilated cardiomyopathy with ataxia|3-methylglutaconic aciduria type V|3-methylglutaconic aciduria caused by mutation in DNAJC19|3 alpha methylglutaconic aciduria type V|Mga, type 5|MGA5|DNAJC19 3-methylglutaconic aciduria|MGCA5|MGA V|3-METHYLGLUTACONIC aciduria, type V|DCMA syndrome|cardiomyopathy, dilated, with ataxia|3-Methylglutaconic aciduria, type 5|DCMA|MGA 5|3 methylglutaconic aciduria type V Orphanet:66634|GARD:0010344|DOID:0110000|ICD10:E71.1|UMLS:C1857776|GARD:0012964|SCTID:711412004|OMIM:610198|MESH:C565706|UMLS:C4039473 https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v owl:Class HGNC:30528 biolink:NamedThing DNAJC19 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001194 biolink:NamedThing splenic artery An artery that supplies the spleen. tmpak2llvmy_mondo_relaxed.owl arteria splenica|arteria lienalis|lienal artery owl:Class MONDO:0044751 biolink:NamedThing chronic diarrheal disease Chronic form of diarrheal disease. tmpak2llvmy_mondo_relaxed.owl chronic diarrhea|diarrheal disease, chronic UMLS:C0401151|SCTID:236071009 owl:Class GO:0019889 biolink:NamedThing pteridine metabolic process The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group. tmpak2llvmy_mondo_relaxed.owl pteridine metabolism owl:Class HGNC:15505 biolink:NamedThing MBOAT7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013217 biolink:NamedThing Diamond-Blackfan anemia 10 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan Anemia type 10|DBA10|Diamond-Blackfan anemia caused by mutation in RPS26|Diamond-Blackfan anemia 10|RPS26 Diamond-Blackfan anemia UMLS:C2750080|OMIM:613309|MESH:C567649 owl:Class HGNC:10414 biolink:NamedThing RPS26 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5331 biolink:NamedThing NOD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012659 biolink:NamedThing age related macular degeneration 9 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. tmpak2llvmy_mondo_relaxed.owl ARMD9|age-related macular degeneration caused by mutation in C3|C3 age-related macular degeneration|macular degeneration, age-related, 9|macular Degeneration, age-related, type 9|age related macular degeneration type 9 MESH:C566958|UMLS:C1969651|OMIM:611378|DOID:0110021 owl:Class MONDO:0013443 biolink:NamedThing Seckel syndrome 5 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. tmpak2llvmy_mondo_relaxed.owl Seckel syndrome type 5|Seckel syndrome caused by mutation in CEP152|Seckel syndrome 5|CEP152 Seckel syndrome|SCKL5 UMLS:C3151187|DOID:0070012|OMIM:613823 owl:Class HGNC:29298 biolink:NamedThing CEP152 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:164 biolink:NamedThing ACTN2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001423 biolink:NamedThing X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. tmpak2llvmy_mondo_relaxed.owl X-linked dominant UMLS:C1847879 human_phenotype owl:Class HGNC:11132 biolink:NamedThing SNAP25 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005753 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the mitochondrial membrane. tmpak2llvmy_mondo_relaxed.owl mitochondrial respiratory chain complex V owl:Class MONDO:0014420 biolink:NamedThing short stature due to primary acid-labile subunit deficiency Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. tmpak2llvmy_mondo_relaxed.owl acid-labile SUBUNIT deficiency|ACLSD UMLS:C3900122|Orphanet:140941|ICD10:E34.3|SCTID:721074002|OMIM:615961 owl:Class MONDO:0044778 biolink:NamedThing nodular lymphocyte predominant Hodgkin lymphoma A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008) tmpak2llvmy_mondo_relaxed.owl nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte predominant Hodgkin lymphoma|NLPHL|nodular lymphocyte predominant Hodgkin's lymphoma|Hodgkin lymphoma nodular LP, NOS UMLS:C1334968|ICD10:C81.0|NCIT:C7258|ONCOTREE:NLPHL|Orphanet:86893|MEDGEN:233758 owl:Class MONDO:0043346 biolink:NamedThing progressive transformation of germinal centers Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl PTGC|progressive transformation of Germinal centers NCIT:C38408|GARD:0010712|MESH:C548085 Editor note: represents a finding in NCIT owl:Class MONDO:0013415 biolink:NamedThing chromosome 17p13.1 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 17p13.1 deletion syndrome|17p13.1 deletion syndrome DOID:0060402|UMLS:C3151069|OMIM:613776|GARD:0010996 owl:Class OBO:CHR_9606-chr17p13.1 biolink:NamedThing chr17p13.1 (Human) tmpak2llvmy_mondo_relaxed.owl 10800000 6500000 hg38 owl:Class OBO:CHR_9606-chr14q3 biolink:NamedThing chr14q3 (Human) tmpak2llvmy_mondo_relaxed.owl 107043718 78800000 hg38 owl:Class MONDO:0014130 biolink:NamedThing Dowling-Degos disease 2 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. tmpak2llvmy_mondo_relaxed.owl Dowling-Degos disease caused by mutation in POFUT1|POFUT1 Dowling-Degos disease|Dowling-Degos disease 2|Dowling-Degos disease type 2|DDD2 UMLS:C3809147|OMIM:615327 owl:Class MONDO:0008668 biolink:NamedThing von Willebrand disease 1 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). tmpak2llvmy_mondo_relaxed.owl von Willebrand disease 1|VWD type 1|VON WILLEBRAND disease, type 1|von willebrand's disease 1|von Willebrand disease type 1|von Willebrand's disease type 1|von Willebrand disease type I|Von Willebrand disease, type 1|VWD, type 1|VWD1 UMLS:C1264039|ICD10:D68.0|Orphanet:166078|DOID:0060573|OMIM:193400|SCTID:128106003|MESH:D056725|NCIT:C131685 owl:Class HGNC:30696 biolink:NamedThing WDR36 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035102 biolink:NamedThing transverse process of caudal vertebra A transverse process that is part of a caudal vertebra tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010388 biolink:NamedThing rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked tmpak2llvmy_mondo_relaxed.owl rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked|RESDX|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked|ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked MESH:C564467|UMLS:C1845070|OMIM:300643 owl:Class HGNC:30668 biolink:NamedThing SRPX2 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:2100000 biolink:NamedThing anatomical entity environment An environment which is determined by an anatomical entity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012419 biolink:NamedThing age related macular degeneration 7 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. tmpak2llvmy_mondo_relaxed.owl macular degeneration, age-related, 7|macular Degeneration, age-related, wet type, susceptibility to|age-related macular degeneration caused by mutation in HTRA1|age related macular degeneration type 7|ARMD7|macular Degeneration, age-related, neovascular type, susceptibility to|macular Degeneration, age-related, type 7|HTRA1 age-related macular degeneration OMIM:610149|DOID:0110019|MESH:C565718|UMLS:C1857813 owl:Class NCBITaxon:134742 biolink:NamedThing Sigmodon alstoni tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005021 biolink:NamedThing mucosa of sphenoidal sinus A mucosa that is part of a sphenoidal sinus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of sphenoid sinus|mucosa of organ of sphenoidal sinus|sphenoid sinus mucosa of organ|sphenoidal sinus mucosa|sphenoid sinus mucous membrane|mucous membrane of sphenoidal sinus|organ mucosa of sphenoid sinus|mucous membrane of sphenoid sinus|sphenoidal sinus mucous membrane|sphenoidal sinus mucosa of organ|organ mucosa of sphenoidal sinus|mucosa of organ of sphenoid sinus|sphenoidal sinus organ mucosa|sphenoid sinus mucosa|sphenoid sinus organ mucosa owl:Class GO:0070991 biolink:NamedThing medium-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12. tmpak2llvmy_mondo_relaxed.owl MCAD activity owl:Class CL:2000073 biolink:NamedThing migratory cardiac neural crest cell Any migratory neural crest cell that is part of a cardiac neural crest. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-11-05T01:18:43Z cell owl:Class UBERON:0005730 biolink:NamedThing pelvic appendage field A limb/fin field that has the potential to develop into a pelvic appendage bud mesenchyme. tmpak2llvmy_mondo_relaxed.owl pelvic appendage field of lateral plate mesoderm|pelvic fin field owl:Class HGNC:7590 biolink:NamedThing MYLK tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:37124 biolink:NamedThing Chikungunya virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:3498 biolink:NamedThing MECOM tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001326 biolink:NamedThing levator ani muscle The Levator ani is a broad, thin muscle, situated on the side of the pelvis. It is attached to the inner surface of the side of the lesser pelvis, and unites with its fellow of the opposite side to form the greater part of the floor of the pelvic cavity. It supports the viscera in pelvic cavity, and surrounds the various structures which pass through it. In combination with the Coccygeus muscle, it forms the pelvic diaphragm. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl levator ani|musculus levator ani owl:Class Ndd26083a748341e0b8e0128032e8a142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017930 biolink:NamedThing mixed sclerosing bone dystrophy with extra-skeletal manifestations tmpak2llvmy_mondo_relaxed.owl ICD10:M85.8|Orphanet:324364 owl:Class HGNC:4392 biolink:NamedThing GNAS tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10798 biolink:NamedThing Human parvovirus B19 tmpak2llvmy_mondo_relaxed.owl Parvovirus B19|B19 virus|Erythrovirus B19|Human erythrovirus B19 GC_ID:1 ncbi_taxonomy owl:Class HGNC:8881 biolink:NamedThing PFN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001610 biolink:NamedThing lingual artery The lingual artery arises from the external carotid between the superior thyroid and facial artery[WP]. tmpak2llvmy_mondo_relaxed.owl lingual branch of external carotid artery|arteria lingualis owl:Class UBERON:0010537 biolink:NamedThing mesonephric nephron progenitor Cluster of cells comprising a portion of tissue which gives rise to new mesonephric nephrons. The cluster contains self-renewing stem cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013187 biolink:NamedThing factor XIII, A subunit, deficiency of tmpak2llvmy_mondo_relaxed.owl factor XIII, A subunit, deficiency of|hereditary factor XIII A subunit deficiency|hereditary factor XIII type II deficiency|hereditary factor XIII alpha subunit deficiency UMLS:C2584877|OMIM:613225|SCTID:439455002|MESH:C567691 owl:Class HGNC:3531 biolink:NamedThing F13A1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:28344 biolink:NamedThing Porcine reproductive and respiratory syndrome virus tmpak2llvmy_mondo_relaxed.owl porcine reproductive and respiratory syndrome virus PRRSV|Porcine respiratory and reproductive syndrome virus|PRRSV|Porcine reproductive and respiratory syndrome virus (PRRSV)|porcine reproductive and respiratory syndrome virus, PRRSV GC_ID:1 NCBITaxon:12796|NCBITaxon:70172 ncbi_taxonomy owl:Class MONDO:0012029 biolink:NamedThing microcephaly 6, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene. tmpak2llvmy_mondo_relaxed.owl CENPJ autosomal recessive primary microcephaly|microcephaly 6, primary, autosomal recessive|MCPH6|autosomal recessive primary microcephaly caused by mutation in CENPJ OMIM:608393|UMLS:C1842109|DOID:0070290|MESH:C564247 owl:Class HGNC:17272 biolink:NamedThing CENPJ tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002422 biolink:NamedThing fourth ventricle Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures. tmpak2llvmy_mondo_relaxed.owl fourth ventricle proper|ventricle of hindbrain|ventriculus quartus|ventricle IV|4th ventricle|rhombencephalic ventricle|ventricle of rhombencephalon|hindbrain ventricle|IVth ventricle|rhombencephalic vesicle owl:Class MONDO:0700089 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 1 Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene. tmpak2llvmy_mondo_relaxed.owl dystonia 8|mount-reback syndrome|PNKD1|PxMD-PNKD|choreoathetosis, familial paroxysmal|paroxysmal nonkinesigenic dyskinesia 1|choreoathetosis, nonkinesigenic|PNKD paroxysmal dyskinesia|paroxysmal nonkinesigenic dyskinesia type 1|paroxysmal dystonic choreoathetosis|paroxysmal dyskinesia caused by mutation in PNKD ICD10:G24.8|MedDRA:10065658|GARD:0008722|DOID:0090049|MedDRA:10065657|OMIM:118800 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0011974 biolink:NamedThing Myelofibrosis Replacement of bone marrow by fibrous tissue. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:52967002|UMLS:C0026987 peter 2012-07-18T08:51:57Z human_phenotype owl:Class HGNC:1232 biolink:NamedThing EGLN1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016937 biolink:NamedThing short-branched-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002224 biolink:NamedThing Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. tmpak2llvmy_mondo_relaxed.owl Wooly hair|Nappy hair texture|Afro-textured hair|Kinked hair|Kinky hair texture UMLS:C4072835|UMLS:C4073292|UMLS:C0343073|MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C4072836 See figures in PMID:20464096. human_phenotype owl:Class GO:0005355 biolink:NamedThing glucose transmembrane transporter activity Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl lactose/glucose efflux transporter activity|glucose permease activity|galactose/glucose (methylgalactoside) porter activity owl:Class HGNC:19129 biolink:NamedThing PSAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008909 biolink:NamedThing perichordal bone Bone element that is adjacent to the notochord. tmpak2llvmy_mondo_relaxed.owl perichordal bone|perichordal bones owl:Class MONDO:0044919 biolink:NamedThing malignant renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of the renal pelvis|renal pelvis cancer|malignant tumor of the renal pelvis|malignant tumor of renal pelvis|malignant renal pelvis tumor|cancer of renal pelvis|malignant renal pelvis neoplasm|malignant neoplasm of renal pelvis NCIT:C7525 owl:Class MONDO:0013206 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 6 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. tmpak2llvmy_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in ZEB1|corneal dystrophy, Fuchs endothelial, type 6|ZEB1 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, late-onset|FECD6|corneal dystrophy, Fuchs endothelial, 6 UMLS:C2750448|OMIM:613270 owl:Class HGNC:11642 biolink:NamedThing ZEB1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011159 biolink:NamedThing primary subdivision of cranial skeletal system tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011381 biolink:NamedThing dominant beta-thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. tmpak2llvmy_mondo_relaxed.owl beta-thalassemia, dominant inclusion body type|thalassemia-beta, dominant inclusion-body|inclusion body beta-thalassemia|dyserythropoietic Anemia, congenital, Irish or Weatherall type SCTID:716682000|UMLS:C4274391|OMIM:603902|UMLS:C1858990|ICD10:D56.1|Orphanet:231226|MESH:C565834 owl:Class MONDO:0022633 biolink:NamedThing camptodactyly joint contractures and facial skeletal dysplasia tmpak2llvmy_mondo_relaxed.owl MESH:C537969 owl:Class MONDO:0010421 biolink:NamedThing Bruton-type agammaglobulinemia X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. tmpak2llvmy_mondo_relaxed.owl Bruton's X-linked agammaglobulinemia|hypogammaglobulinemia, X-linked|agammaglobulinemia, Bruton tyrosine kinase|Bruton type agammaglobulinemia|Bruton's Sex-linked agammaglobulinemia|agammaglobulinemia, X-linked, type 1|Bruton's agammaglobulinemia|agammaglobulinemia, BTK|X-linked agammaglobulinemia|BTK-deficiency|BTK deficiency|immunodeficiency 1|Bruton's agammaglobulinaemia|Bruton's type agammaglobulinemia|Bruton-type agammaglobulinemia|Bruton agammaglobulinemia tyrosine kinase deficiency|XLA|agammaglobulinemia, X-linked OMIM:300755|SCTID:65880007|DOID:14179|MESH:C537409|Orphanet:47|UMLS:C0221026|GARD:0001033|ICD10:D80.0|NCIT:C3822|MedDRA:10060360 owl:Class CL:0001024 biolink:NamedThing CD34-positive, CD38-negative hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. tmpak2llvmy_mondo_relaxed.owl CD133-positive hematopoietic stem cell FMA:86475|CALOHA:TS-0448 Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). cell owl:Class PR:000001843 biolink:NamedThing Thy-1 membrane glycoprotein tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005544 biolink:NamedThing hippocampal sclerosis of aging Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus tmpak2llvmy_mondo_relaxed.owl EFO:0005678 owl:Class CL:0000586 biolink:NamedThing germ cell The reproductive cell in multicellular organisms. tmpak2llvmy_mondo_relaxed.owl WBbt:0006796|VHOG:0001534|BTO:0000535 cell owl:Class HGNC:7572 biolink:NamedThing MYH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009073 biolink:NamedThing Ritscher-Schinzel syndrome 1 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene. tmpak2llvmy_mondo_relaxed.owl Ritscher-Schinzel syndrome caused by mutation in WASHC5|Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 1|Craniocerebellocardiac dysplasia|RTSC|Ritscher-Schinzel syndrome type 1|RTSC1|WASHC5 Ritscher-Schinzel syndrome|3C syndrome|Dandy-Walker-like malformation with atrioventricular septal defect DOID:0060571|OMIM:220210 owl:Class HGNC:28984 biolink:NamedThing WASHC5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011186 biolink:NamedThing Usher syndrome type 1F A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, type 1F|USH1F|USHER syndrome, type IF|Usher syndrome type IF|Usher syndrome type 1F GARD:0010043|ICD10:H35.5|DOID:0110832|OMIM:602083|UMLS:C1865885 https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f owl:Class HGNC:2201 biolink:NamedThing COL3A1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005432 biolink:NamedThing aortic sac The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates tmpak2llvmy_mondo_relaxed.owl saccus aorticus owl:Class MONDO:0012417 biolink:NamedThing heart-hand syndrome, Slovenian type A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. tmpak2llvmy_mondo_relaxed.owl heart-hand syndrome, Slovenian type|atriodigital dysplasia, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome ICD10:Q87.2|SCTID:721014007|GARD:0009846|MESH:C535852|Orphanet:168796|UMLS:C1857829|OMIM:610140 https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type owl:Class HGNC:3756 biolink:NamedThing FLNC tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:520 biolink:NamedThing Bordetella pertussis tmpak2llvmy_mondo_relaxed.owl Hemophilus pertussis|Microbe de la coqueluche|Haemophilus pertussis|Bacterium tussis-convulsivae PMID:8240949|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014286 biolink:NamedThing neuropathy, hereditary sensory, type 1F Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. tmpak2llvmy_mondo_relaxed.owl HSN 1F|neuropathy, hereditary sensory, type IF|hereditary sensory neuropathy type 1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|neuropathy, hereditary sensory, type 1F|HSN1F|hereditary sensory neuropathy type IF DOID:0070154|OMIM:615632|UMLS:C3810194 owl:Class HGNC:24526 biolink:NamedThing ATL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041448 biolink:NamedThing metastasis from malignant tumor of colon tmpak2llvmy_mondo_relaxed.owl metastasis from malignant tumor of colon UMLS:C1282500|SCTID:314998002 owl:Class MONDO:0014779 biolink:NamedThing Wilms tumor 6 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. tmpak2llvmy_mondo_relaxed.owl Wilms tumor 6|Wilms tumor type 6|WT6|Wilms tumor 6; WT6 OMIM:616806 owl:Class HGNC:9966 biolink:NamedThing REST tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009788 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive tmpak2llvmy_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive OMIM:258650 owl:Class MONDO:0016283 biolink:NamedThing leiomyosarcoma of the cervix uteri Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. tmpak2llvmy_mondo_relaxed.owl uterine cervix leiomyosarcoma|cervical leiomyosarcoma|leiomyosarcoma of uterine cervix|CELI NCIT:C128047|ICD10:C53.8|Orphanet:213807|ICD10:C53.1|SCTID:763771009|UMLS:C4289817|ICD10:C53.0|ONCOTREE:CELI|UMLS:CN201073 owl:Class MONDO:0011098 biolink:NamedThing prostate cancer, hereditary, 1 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 1|Prca1|HPC1|prostate cancer, hereditary, 1|familial prostate cancer caused by mutation in RNASEL|RNASEL familial prostate cancer OMIM:601518 owl:Class HGNC:10050 biolink:NamedThing RNASEL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014463 biolink:NamedThing cardiac ganglion Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery. tmpak2llvmy_mondo_relaxed.owl cardiac ganglion of Wrisberg|cardiac ganglia|ganglia cardiaca|Wrisberg ganglion|ganglion of Wrisberg|cardiac ganglia set owl:Class MONDO:0007523 biolink:NamedThing Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. tmpak2llvmy_mondo_relaxed.owl benign hypermobility syndrome|EDS III|hEDS|EDS3 (formerly)|hypermobile Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type 3 (formerly)|Ehlers-Danlos syndrome, hypermobile type|hypermobile EDS|Ehlers-Danlos syndrome type 3|EDS 3|benign joint hypermobility syndrome|HT-EDS|Ehlers-Danlos syndrome, type III|Ehlers-Danlos syndrome, hypermobility type|EDSHMB|Ehlers-Danlos syndrome, type 3|BJHS NCIT:C125698|MESH:C536196|GARD:0002081|SCTID:30652003|Orphanet:285|ICD10:Q79.6|OMIM:130020|UMLS:C0268337|DOID:14757 owl:Class MONDO:0001557 biolink:NamedThing olecranon bursitis A bursitis that involves the olecranon. tmpak2llvmy_mondo_relaxed.owl miner's elbow|Miners' elbow|bursitis of olecranon|bursitis of elbow region|olecranon bursitis|elbow bursitis (& olecranon)|bursitis of elbow|shoe boil|elbow bursitis|capped elbow UMLS:C0263962|DOID:12581|UMLS:C3887895|SCTID:425940002|ICD10:M70.2|ICD9:726.33 owl:Class UBERON:0006855 biolink:NamedThing muscular coat of ureter A muscular coat that is part of a ureter. tmpak2llvmy_mondo_relaxed.owl ureteral smooth muscle layer|muscularis of ureter|muscular layer of ureter|muscular coat of ureter|tunica muscularis (ureter)|tunica muscularis ureteris owl:Class N9a951965acb7465996ea3cc42850b32a biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020147 biolink:NamedThing anophthalmia-microphthalmia syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q11.1|ICD10:Q11.2|Orphanet:98555|ICD10:Q11.0|UMLS:CN120488 owl:Class HP:0000568 biolink:NamedThing Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. tmpak2llvmy_mondo_relaxed.owl Nanophthalmos|Abnormally small eyeball|Microphthalmos|Decreased size of eyeball|Decreased size of globe of eye|Abnormally small globe of eye UMLS:C0026010|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|Fyler:4877|UMLS:C4280625|UMLS:C4280808 HP:0007996 human_phenotype owl:Class OBO:MFOMD_0000109 biolink:NamedThing obsession An intrusive and repetitive thought or image that produce anxiety. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005610 biolink:NamedThing iliac vein Any of the three veins including the common, external and internal iliac veins. tmpak2llvmy_mondo_relaxed.owl pelvic vein owl:Class GO:0035735 biolink:NamedThing intraciliary transport involved in cilium assembly The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. tmpak2llvmy_mondo_relaxed.owl intraflagellar transport involved in cilium morphogenesis|intraflagellar transport|intraciliary transport involved in cilium morphogenesis owl:Class UBERON:0014393 biolink:NamedThing sweat of axilla Sweat that is produced by the glands of the axilla. tmpak2llvmy_mondo_relaxed.owl axillary sweat owl:Class UBERON:0018232 biolink:NamedThing axillary sweat gland A sweat gland that is part of a axilla. tmpak2llvmy_mondo_relaxed.owl sweat gland of axilla|axillary apocrine sweat gland owl:Class ENVO:01001023 biolink:NamedThing radiation A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003414 biolink:NamedThing mesenchyme of mandible Mesenchyme that is part of a developing mandible [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of lower jaw bone|mesenchyme of bone of ventral mandibular arch|ventral mandibular arch bone mesenchyme|lower jaw bone mesenchyme|mesenchyme of ventral mandibular arch bone organ|bone organ of ventral mandibular arch mesenchyme|mesenchyme of bone of lower jaw|mesenchyme of mandibulla|bone of ventral mandibular arch mesenchyme|lower jaw bone organ mesenchyme|mesenchyme of lower jaw bone organ|mesenchyme of ventral mandibular arch bone|mandibulla mesenchyme|ventral mandibular arch bone organ mesenchyme|mesenchyme of bone organ of lower jaw|bone organ of lower jaw mesenchyme|mandible mesenchyme|mesenchyme of bone organ of ventral mandibular arch|bone of lower jaw mesenchyme owl:Class HsapDv:0000141 biolink:NamedThing 47-year-old human stage Middle aged stage that refers to an adult who is over 47 and under 48. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012460 biolink:NamedThing autosomal recessive nonsyndromic deafness 67 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive type 67|LHFPL5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 67|autosomal recessive deafness 67|DFNB67|deafness, autosomal recessive 67|autosomal recessive nonsyndromic deafness type 67 DOID:0110518|ICD10:H90.3|UMLS:C1853223|MESH:C565207|OMIM:610265 owl:Class HGNC:21253 biolink:NamedThing LHFPL5 tmpak2llvmy_mondo_relaxed.owl owl:Class N3775e92880f5445ca10187317c4be39b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:9180 biolink:NamedThing POLG2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:589779 biolink:NamedThing piperidinium The conjugate acid of piperidine; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl piperidinium(1+)|piperidinium|piperidinium cation|hexahydropyridinium|piperidine owl:Class HGNC:1915 biolink:NamedThing CHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001276 biolink:NamedThing water ice layer A solid layer which is primarily composed of some water-based ice. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014391 biolink:NamedThing severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. tmpak2llvmy_mondo_relaxed.owl SCID due to CTPS1 deficiency|immunodeficiency 24|immunodeficiency type 24|IMD24 Orphanet:420573|SCTID:763623001|ICD10:D81.2|OMIM:615897|UMLS:C4014617 owl:Class HGNC:2519 biolink:NamedThing CTPS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018326 biolink:NamedThing transient neonatal myasthenia gravis Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. tmpak2llvmy_mondo_relaxed.owl NMG|transient neonatal autoimmune myasthenia gravis|neonatal myasthenia gravis|transient neonatal acquired myasthenia NCIT:C117308|ICD10:P94.0|Orphanet:391504|UMLS:C0495465 owl:Class CL:0010005 biolink:NamedThing atrioventricular bundle cell A specialized cardiomyocyte that transmit signals from the AV node to the cardiac Purkinje fibers. tmpak2llvmy_mondo_relaxed.owl AV bundle cell owl:Class NCBITaxon:122277 biolink:NamedThing Pectobacterium tmpak2llvmy_mondo_relaxed.owl PMID:9779605|GC_ID:11|PMID:11155980 ncbi_taxonomy owl:Class HGNC:4235 biolink:NamedThing GFAP tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29853 biolink:NamedThing HECW2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0007420 biolink:NamedThing brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045061 biolink:NamedThing thymic T cell selection The process of T cell selection that occurs in the thymus. tmpak2llvmy_mondo_relaxed.owl thymic T-cell selection|thymic T-lymphocyte selection|thymic T lymphocyte selection owl:Class GO:0016505 biolink:NamedThing peptidase activator activity involved in apoptotic process Binds to and increases the activity of a peptidase that is involved in the apoptotic process. tmpak2llvmy_mondo_relaxed.owl apoptotic protease activator activity owl:Class MONDO:0024541 biolink:NamedThing trichohepatoenteric syndrome 1 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. tmpak2llvmy_mondo_relaxed.owl diarrhea, syndromic|TRICHOHEPATOENTERIC syndrome 1|THES1|The syndrome|trichohepatoenteric syndrome 1|tricho-hepato-enteric syndrome caused by mutation in TTC37|TTC37 tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa DOID:0111415|OMIM:222470|UMLS:CN034858 owl:Class HGNC:23639 biolink:NamedThing TTC37 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15946 biolink:NamedThing RP1L1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0037105 biolink:NamedThing lung germ cell tumor A germ cell tumor that arises from the lung. tmpak2llvmy_mondo_relaxed.owl lung germ cell tumor|lung germ cell neoplasm NCIT:C45636|UMLS:C1708771 owl:Class MONDO:0013061 biolink:NamedThing myofibrillar myopathy 6 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. tmpak2llvmy_mondo_relaxed.owl myopathy, myofibrillar, 6|myofibrillar myopathy (disease) caused by mutation in BAG3|BAG3 myofibrillar myopathy (disease)|myofibrillar myopathy type 6|myopathy, myofibrillar, type 6|BAG3-related myofibrillar myopathy|MFM6|myofibrillar myopathy 6|muscular dystrophy, Selcen type|myopathy, myofibrillar, Bag3-related Orphanet:199340|DOID:0080097|OMIM:612954|ICD10:G71.8|MESH:C567843 owl:Class HsapDv:0000123 biolink:NamedThing 29-year-old human stage Adult stage that refers to an adult who is over 29 and under 30. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001547 biolink:NamedThing quality of a gas A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. tmpak2llvmy_mondo_relaxed.owl gaseous owl:Class HGNC:11947 biolink:NamedThing TNNI3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018668 biolink:NamedThing scedosporiosis tmpak2llvmy_mondo_relaxed.owl Orphanet:449280|ICD10:B48.7 owl:Class HGNC:25133 biolink:NamedThing MARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004557 biolink:NamedThing alpha-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. tmpak2llvmy_mondo_relaxed.owl alpha-galactoside galactohydrolase activity|alpha-galactosidase A|alpha-D-galactosidase activity|melibiase activity|alpha-D-galactoside galactohydrolase activity owl:Class MONDO:0042605 biolink:NamedThing Y chromosome infertility due to DAZ1 deletion tmpak2llvmy_mondo_relaxed.owl male sterility due to Y-chromosome deletions|deleted in azoospermia|DAZ|Y chromosome microdeletions|Y chromosome infertility HGNC:2682|GARD:0000185 owl:Class MONDO:0016414 biolink:NamedThing hypotrichosis-intellectual disability, Lopes type Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Lopes-Marques de Faria syndrome Orphanet:2266|UMLS:CN201347 owl:Class UBERON:0014615 biolink:NamedThing accessory nerve root A nerve root that is part of a accessory XI nerve. tmpak2llvmy_mondo_relaxed.owl bulbar accessory nerve|cranial part of accessory nerve|pars vagalis of nervus accessorius|radices craniales nervi accessorii|nerve XI (cranialis)|bulbar part of accessory nerve|cranial part of the accessory nerve|accessory portion of spinal accessory nerve|cranial portion of eleventh cranial nerve|internal branch of accessory nerve|c11n|root of accessory nerve|cranial accessory nerve|accessory nerve root owl:Class MONDO:0009610 biolink:NamedThing 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. tmpak2llvmy_mondo_relaxed.owl 3-methylglutaconic aciduria caused by mutation in auh|3 alpha methylglutaconic aciduria type I|3-Methylglutaconic aciduria, type 1|3-MGCA type I (3-MGCA-1)|3-methylglutaconic aciduria caused by mutation in AUH|3MG-CoA hydratase deficiency|3-methylglutaconic aciduria type I|3-methylglutaconic aciduria type 1|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|Mga, type 1|AUH 3-methylglutaconic aciduria|3 methylglutaconic aciduria type 1|MGCA1|3MG CoA hydratase deficiency|3-methylglutaconyl-Coa hydratase deficiency|3-Mg-Coa-hydratase deficiency|auh 3-methylglutaconic aciduria|3 methylglutaconyl CoA hydratase deficiency|3-METHYLGLUTACONIC aciduria, type I|3-methylglutaconyl-CoA hydratase deficiency|MGA type I|MGA1 Orphanet:67046|MESH:C562801|ICD10:E71.1|SCTID:237951008|UMLS:C0342728|OMIM:250950|UMLS:C0342727|GARD:0010321|DOID:0110002|NCIT:C98683 owl:Class NCBITaxon:5855 biolink:NamedThing Plasmodium vivax tmpak2llvmy_mondo_relaxed.owl malaria parasite P. vivax|Haemamoeba vivax Grassi and Feletti, 1890|Haemamoeba vivax GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003897 biolink:NamedThing breast epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. tmpak2llvmy_mondo_relaxed.owl epithelioid hemangioma of the breast|epithelioid hemangioma of breast|histiocytoid breast hemangioma|histiocytoid hemangioma of the breast|histiocytoid hemangioma of breast|breast epithelioid hemangioma|epithelioid breast hemangioma|breast histiocytoid hemangioma UMLS:C1332627|DOID:6492|NCIT:C5211 owl:Class MONDO:0014952 biolink:NamedThing intellectual disability-epilepsy-extrapyramidal syndrome tmpak2llvmy_mondo_relaxed.owl DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder UMLS:C4310683|Orphanet:468620|OMIM:617171 owl:Class HGNC:11598 biolink:NamedThing TBX20 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11633 biolink:NamedThing TCF3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002068 biolink:NamedThing Purkinje myocyte Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter. tmpak2llvmy_mondo_relaxed.owl myocytus conducens cardiacus|Purkinje muscle cell|Purkinje cell fiber FMA:14146|BTO:0001032 tmeehan 2010-06-28T08:36:15Z cell owl:Class MONDO:0004569 biolink:NamedThing brachial plexus neuropathy from injury tmpak2llvmy_mondo_relaxed.owl brachial plexus lesions|brachial plexus lesion ICD9:353.0|DOID:8443|UMLS:C0006091 owl:Class UBERON:0018235 biolink:NamedThing capsule of pancreas A capsule that divides the parenchyma of the pancreas into lobes and lobules tmpak2llvmy_mondo_relaxed.owl pancreatic capsule owl:Class MONDO:0013790 biolink:NamedThing mirror movements 2 Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene. tmpak2llvmy_mondo_relaxed.owl RAD51 familial congenital mirror movements|mirror movements type 2|familial congenital mirror movements caused by mutation in RAD51|MRMV2|mirror movements 2 UMLS:C3281089|OMIM:614508 owl:Class GO:0140244 biolink:NamedThing regulation of translation at presynapse Any process that regulates translation occurring at the presynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010427 biolink:NamedThing syndromic X-linked intellectual disability Raymond type A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1. tmpak2llvmy_mondo_relaxed.owl MRXSR|mental retardation, X-linked, syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type|intellectual disability, X-linked, syndromic, Raymond type|mental retardation, X-linked syndromic, Raymond type|syndromic X-linked intellectual disability Raymond type OMIM:300799|DOID:0060824|ICD10:Q87.8|UMLS:C3275406 owl:Class HGNC:9670 biolink:NamedThing PTPRF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009643 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type A tmpak2llvmy_mondo_relaxed.owl MOCODA|MOCOD type A|sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency, complementation group type a|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency complementation group A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|molybdenum cofactor deficiency, complementation group A PMID:9731530|ICD10:E72.1|UMLS:C1854988|OMIM:252150|DOID:0111164|Orphanet:308386|MESH:C565372 owl:Class HGNC:7190 biolink:NamedThing MOCS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0018549 biolink:NamedThing methanethiol oxidase activity Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide. tmpak2llvmy_mondo_relaxed.owl methanethiol:oxygen oxidoreductase activity|(MM)-oxidase activity|methylmercaptan oxidase activity|methyl mercaptan oxidase activity|MT-oxidase activity owl:Class MONDO:0006876 biolink:NamedThing ocular tuberculosis Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. tmpak2llvmy_mondo_relaxed.owl ICD9:017.32|DOID:0070344|UMLS:C0041322|ICD9:017.30|EFO:1001070|SCTID:49107007|MESH:D014392 owl:Class UBERON:0007282 biolink:NamedThing presumptive segmental plate A presumptive structure that has the potential to develop into a presomitic mesoderm. tmpak2llvmy_mondo_relaxed.owl presumptive segmental plates owl:Class CHEBI:136849 biolink:NamedThing 3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. tmpak2llvmy_mondo_relaxed.owl a 3-oxo-Delta4-steroid group owl:Class HGNC:26582 biolink:NamedThing UNC80 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16171 biolink:NamedThing CHMP4B tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10 biolink:NamedThing chr10 (Human) tmpak2llvmy_mondo_relaxed.owl 133797422 0 hg38 owl:Class UBERON:0001178 biolink:NamedThing visceral peritoneum The inner layer of peritoneum that is wrapped around organs located inside the intraperitoneal space. tmpak2llvmy_mondo_relaxed.owl visceral serous membrane of peritoneum owl:Class UBERON:0008843 biolink:NamedThing gubernaculum testis The fetal ligament attached to the inferior end of the epididymis and testis and, at its other end, to the bottom of the scrotum; it is present during, and is thought to guide, the descent of the testis into the scrotum and then atrophies. tmpak2llvmy_mondo_relaxed.owl gubernaculum|Hunter's gubernaculum|male gubernaculum owl:Class HGNC:7450 biolink:NamedThing MTMR2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001272 biolink:NamedThing innominate bone A fused bone consisting of the ilium, ischium and and pubis. Together with the sacrum and coccyx, it comprises the pelvis. [WP,modified]. tmpak2llvmy_mondo_relaxed.owl os coxa|basipterygium|os coxae|bone of pelvic girdle|coxal bone|pelvic bone|innominate|innominate bone|os innominatum|hip bone owl:Class MONDO:0007656 biolink:NamedThing Gerstmann-Straussler-Scheinker syndrome A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. tmpak2llvmy_mondo_relaxed.owl encephalopathy, Subacute spongiform, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|Gerstmann-Straussler disease|amyloidosis, cerebral, with spongiform encephalopathy|Gerstmann-Straussler-Scheinker disease|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|cerebral amyloid angiopathy, Prnp-related|Gerstmann Straussler Scheinker syndrome|amyloidosis cerebral with spongiform encephalopathy|GSD|subacute spongiform encephalopathy, Gerstmann-Straussler type|prion dementia UMLS:C0017495|ICD9:046.71|SCTID:67155006|NCIT:C84727|ICD10:A81.82|MedDRA:10072075|DOID:4249|OMIM:137440|Orphanet:356|ICD10:A81.8|MESH:C535800|GARD:0007690 Editor note: MESH considers as two diseases owl:Class OBO:CHR_9606-chr5p biolink:NamedThing chr5p (Human) tmpak2llvmy_mondo_relaxed.owl 48800000 0 hg38 owl:Class UBERON:0034936 biolink:NamedThing pars plana of ciliary body Flattened posterior region of ciliary body tmpak2llvmy_mondo_relaxed.owl orbiculus ciliaris|ciliary ring owl:Class UBERON:0036337 biolink:NamedThing wall of appendix tmpak2llvmy_mondo_relaxed.owl wall of vermiform appendix|appendix wall owl:Class OBO:CHR_9606-chr17q2 biolink:NamedThing chr17q2 (Human) tmpak2llvmy_mondo_relaxed.owl 83257441 39800000 hg38 owl:Class GO:0097734 biolink:NamedThing extracellular exosome biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. tmpak2llvmy_mondo_relaxed.owl exosome assembly or secretion|ILV assembly|exosome production|intraluminal vesicle assembly|exosome biogenesis owl:Class HP:0003124 biolink:NamedThing Hypercholesterolemia An increased concentration of cholesterol in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated total cholesterol|Elevated serum cholesterol|High cholesterol|Increased total cholesterol SNOMEDCT_US:13644009|SNOMEDCT_US:166830008|UMLS:C0020443|UMLS:C0595929|MSH:D006937 HP:0008359|HP:0008154|HP:0008173 human_phenotype owl:Class PATO:0001394 biolink:NamedThing diploid A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20145 biolink:NamedThing GPR143 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24587 biolink:NamedThing FAM126A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019100 biolink:NamedThing neuromyelitis optica Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. tmpak2llvmy_mondo_relaxed.owl Devic's disease|Devic's neuromyelitis optica|Devic syndrome|NMO|Devic disease|Devic's syndrome Orphanet:71211|MedDRA:10029322|ICD10:G36.0|GARD:0006267|ICD9:341.0|SCTID:25044007|EFO:0004256|NCIT:C84934|UMLS:C0027873|DOID:8869|MESH:D009471 https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica owl:Class GO:0030936 biolink:NamedThing transmembrane collagen trimer Any collagen trimer that passes through a lipid bilayer membrane. tmpak2llvmy_mondo_relaxed.owl MACIT owl:Class HGNC:9016 biolink:NamedThing PKHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008379 biolink:NamedThing retinitis pigmentosa 10 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene. tmpak2llvmy_mondo_relaxed.owl IMPDH1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in IMPDH1|retinitis pigmentosa type 10|retinitis pigmentosa 10|RP10 MESH:C566715|ICD10:H35.5|UMLS:C1867299|DOID:0110388|OMIM:180105 owl:Class HGNC:6052 biolink:NamedThing IMPDH1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013760 biolink:NamedThing external cervical os Opening of uterine cervix into the vagina. tmpak2llvmy_mondo_relaxed.owl external os of uterus|ostium of uterus|ostium uteri|external os owl:Class CL:1001578 biolink:NamedThing vagina squamous cell Squamous cell of vaginal epithelium. tmpak2llvmy_mondo_relaxed.owl vagina squamous epithelial cells|vaginal squamous cell|vaginal squamous epithelial cell|vagina squamous epithelial cell CALOHA:TS-1254 owl:Class CHEBI:59871 biolink:NamedThing D-alpha-amino acid zwitterion Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpak2llvmy_mondo_relaxed.owl D-alpha-amino acid zwitterions|a D-alpha-amino acid owl:Class MONDO:0015634 biolink:NamedThing isolated osteopoikilosis A osteopoikilosis (disease) that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated osteopoikilosis (disease)|nonsyndromic osteopoikilosis (disease) ICD10:Q78.8|Orphanet:166119 owl:Class UBERON:0005033 biolink:NamedThing mucosa of gallbladder A mucosa that is part of a gallbladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of gall bladder|mucous membrane of gall bladder|gallbladder mucous membrane|gallbladder organ mucosa|mucous membrane of gallbladder|gall bladder mucosa of organ|mucosa of organ of gall bladder|organ mucosa of gallbladder|organ mucosa of gall bladder|gallbladder mucosa|tunica mucosa vesicae biliaris|gall bladder mucous membrane|gall bladder organ mucosa|gallbladder mucosa of organ|gall bladder mucosa|mucosa of organ of gallbladder|tunica mucosa (vesica biliaris) owl:Class MONDO:0012392 biolink:NamedThing 2-methylbutyryl-CoA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. tmpak2llvmy_mondo_relaxed.owl developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyryl Glycinuria|short/branched-chain acyl-coA dehydrogenase deficiency|SBCAD deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|2-methylbutyryl-CoA dehydrogenase deficiency|short branched-chain acyl-CoA dehydrogenase deficiency|butyryl-CoA dehydrogenase deficiency|2-methylbutyric aciduria NCIT:C98863|ICD10:E71.1|Orphanet:79157|GARD:0010322|OMIM:610006|UMLS:C1864912|MESH:C566487 https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency owl:Class HGNC:91 biolink:NamedThing ACADSB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009251 biolink:NamedThing fructose-1,6-bisphosphatase deficiency Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. tmpak2llvmy_mondo_relaxed.owl fructose-1,6-diphosphatase deficiency|FBP1D|baker-Winegrad disease|fructose-1,6-bisphosphatase deficiency|fructose 1,6 diphosphatase deficiency|fructose 1 phosphate aldolase deficiency OMIM:229700|UMLS:C0016756|NCIT:C128119|DOID:5204|ICD10:E74.19|SCTID:28183005|GARD:0002400|Orphanet:348|ICD10:E74.1 owl:Class OBO:CHR_9606-chr15q11.2 biolink:NamedThing chr15q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 25500000 20500000 hg38 owl:Class CHEBI:50680 biolink:NamedThing methotrexate(1-) tmpak2llvmy_mondo_relaxed.owl (2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate owl:Class MONDO:0000238 biolink:NamedThing pestis minor A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis. tmpak2llvmy_mondo_relaxed.owl pestis minor|ambulatory plague|abortive plague|larval plague UMLS:C0275757|ICD9:020.8|MEDGEN:546803|SCTID:186287003 Editor note: consider obsoleting owl:Class Nd603c347139c417f94b3026eafc129b7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006830 biolink:NamedThing leukoplakia of penis A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. tmpak2llvmy_mondo_relaxed.owl penile leukoplakia|kraurosis of penis|leukoplakia of the penis|kraurosis penis UMLS:C0022782|NCIT:C3151|ICD10:N48.0|MedDRA:10024394|ICD9:607.0|DOID:8738|EFO:1001015|SCTID:3323003 owl:Class UBERON:0001188 biolink:NamedThing right testicular artery A testicular artery that supplies a right testicle. tmpak2llvmy_mondo_relaxed.owl trunk of right testicular arterial tree|right spermatic artery owl:Class MONDO:0014868 biolink:NamedThing developmental and epileptic encephalopathy, 38 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38|epileptic encephalopathy, early infantile, 38; EIEE38|ARV1 early infantile epileptic encephalopathy|EIEE38|DEE38|epileptic encephalopathy, early infantile, type 38 UMLS:C4310762|DOID:0080417|OMIM:617020 owl:Class HGNC:29561 biolink:NamedThing ARV1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100184 biolink:NamedThing GTP cyclohydrolase I deficiency A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. tmpak2llvmy_mondo_relaxed.owl GTP cyclohydrolase I deficiency|GTP-cyclohydrolase I deficiency http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:18591 biolink:NamedThing NEK9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012146 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 3 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene. tmpak2llvmy_mondo_relaxed.owl genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D|UNC13D genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 3|familial hemophagocytic lymphohistiocytosis type 3|Hlh3|Hplh3|FHL3|hemophagocytic lymphohistiocytosis, familial, type 3|HLH3|HPLH3 MESH:C537251|DOID:0110923|GARD:0009928|OMIM:608898 https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3 owl:Class HGNC:23147 biolink:NamedThing UNC13D tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042972 biolink:NamedThing meningococcemia tmpak2llvmy_mondo_relaxed.owl meningococcemia|meningococcal septicemia GARD:0003472|SCTID:4089001|ICD9:036.2|MEDGEN:6300|UMLS:C0025306 owl:Class GO:0033048 biolink:NamedThing negative regulation of mitotic sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000070 biolink:NamedThing mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. tmpak2llvmy_mondo_relaxed.owl mitotic chromosome segregation|mitotic sister-chromatid adhesion release owl:Class MONDO:0013582 biolink:NamedThing mosaic variegated aneuploidy syndrome 2 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. tmpak2llvmy_mondo_relaxed.owl mosaic variegated aneuploidy syndrome 2|Mosaic variegated aneuploidy syndrome type 2|mosaic variegated aneuploidy syndrome type 2|MVA2|MOSAIC variegated aneuploidy syndrome 2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|CEP57 mosaic variegated aneuploidy syndrome DOID:0080142|OMIM:614114|UMLS:C3279843 owl:Class HGNC:30794 biolink:NamedThing CEP57 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013781 biolink:NamedThing pseudohypoaldosteronism type 2D Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. tmpak2llvmy_mondo_relaxed.owl PHA2D|pseudohypoaldosteronism, type 2D|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|KLHL3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IID|familial hyperkalemic hypertension OMIM:614495|UMLS:C3469605|Orphanet:300525|ICD10:I15.1 owl:Class HGNC:6354 biolink:NamedThing KLHL3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8840 biolink:NamedThing PEPD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014075 biolink:NamedThing cataract 39 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene. tmpak2llvmy_mondo_relaxed.owl cataract 39, multiple types|CTRCT39|early-onset non-syndromic cataract caused by mutation in CRYGB|autosomal dominant cataract 39 multiple types|CRYGB early-onset non-syndromic cataract UMLS:C3808800|DOID:0110236|OMIM:615188|ICD10:Q12.0 owl:Class NCBITaxon:7157 biolink:NamedThing Culicidae tmpak2llvmy_mondo_relaxed.owl mosquitos GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020715 biolink:NamedThing Multiple system atrophy 1, susceptibility to tmpak2llvmy_mondo_relaxed.owl MSA1|multiple system atrophy 1, susceptibility to|Msa1, susceptibility to owl:Class MONDO:0003174 biolink:NamedThing spinal cord astrocytoma A low or high grade astrocytoma that arises in the spinal cord. tmpak2llvmy_mondo_relaxed.owl astrocytoma (excluding glioblastoma) of spinal cord|astrocytoma of spinal cord|spinal astrocytoma|spinal cord astrocytoma|spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord EFO:1000544|NCIT:C4641|UMLS:C0349540|DOID:4863|SCTID:254948003 owl:Class HGNC:7711 biolink:NamedThing NDUFS4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006560 biolink:NamedThing proline metabolic process The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. tmpak2llvmy_mondo_relaxed.owl proline metabolism owl:Class HGNC:7105 biolink:NamedThing MITF tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000439 biolink:NamedThing arachnoid trabecula The arachnoid trabeculae are delicate strands of connective tissue that loosely connect the two innermost layers of the meninges -- the arachnoid mater and the pia mater. They are found within the subarachnoid space where cerebrospinal fluid is also found. Embryologically, the trabeculae are the remnants of the common precursor that forms both the arachnoid and pial layers of the meninges. tmpak2llvmy_mondo_relaxed.owl trabecula arachnoideum|arachnoid trabeculae owl:Class MONDO:0012978 biolink:NamedThing primary ciliary dyskinesia 11 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in RSPH4A|primary ciliary dyskinesia type 11|ciliary dyskinesia, primary, type 11|RSPH4A primary ciliary dyskinesia|primary ciliary dyskinesia 11|CILD11|primary ciliary dyskinesia 11 without situs inversus|ciliary dyskinesia, primary, 11|ciliary dyskinesia, primary, 11, without situs inversus DOID:0110602|UMLS:C2675229|OMIM:612649|MESH:C567212|ICD10:Q34.8 owl:Class HGNC:21558 biolink:NamedThing RSPH4A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003246 biolink:NamedThing epithelium of endolymphatic sac An epithelium that is part of a endolymphatic sac [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl endolymphatic sac epithelium|endolymphatic sac epithelial tissue|epithelial tissue of endolymphatic sac owl:Class MONDO:0012434 biolink:NamedThing arrhythmogenic right ventricular dysplasia 10 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpak2llvmy_mondo_relaxed.owl ARVC10|familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular dysplasia, familial, 10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|DSG2 arrhythmogenic right ventricular cardiomyopathy|ARVD10|arrhythmogenic right ventricular dysplasia, familial, type 10|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia type 10|arrhythmogenic right ventricular dysplasia 10 OMIM:610193|ICD10:I42.8|DOID:0110081|MESH:C565707|UMLS:C1857777 owl:Class HGNC:3049 biolink:NamedThing DSG2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005638 biolink:NamedThing anterior chamber epithelium An epithelium that is part of a anterior chamber of eyeball. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001061 biolink:NamedThing pylorus cancer A malignant neoplasm involving the pylorus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of pylorus|malignant tumor of pylorus|malignant neoplasm of pylorus of stomach|malignant neoplasm of Prepylorus|cancer of pylorus|Ca pylorus - stomach|malignant pylorus neoplasm|pylorus cancer SCTID:187736009|UMLS:C0153418|ICD9:151.1|DOID:10544|ICD10:C16.4 owl:Class OBO:CHR_9606-chr10q23 biolink:NamedThing chr10q23 (Human) tmpak2llvmy_mondo_relaxed.owl 95300000 80300000 hg38 owl:Class MONDO:0010211 biolink:NamedThing xeroderma pigmentosum group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. tmpak2llvmy_mondo_relaxed.owl xeroderma pigmentosum, complementation group C|XP group C|xeroderma pigmentosum 3|xeroderma pigmentosum, complementation group type C|XPC|xeroderma pigmentosum group C|xeroderma pigmentosum III|XP3|XP-C|XP, Group C|XPCC|xeroderma pigmentosum, type 3|xeroderma pigmentosum group type C Orphanet:276255|UMLS:C2752147|MESH:C567886|OMIM:278720|DOID:0110844|GARD:0005626|SCTID:25784009|ICD10:Q82.1|NCIT:C114770 owl:Class HGNC:12816 biolink:NamedThing XPC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011588 biolink:NamedThing pre-enamel Odontogenic tissue that is avascular non-mineralized matrix that is deposited by preameloblast and ameloblasts that are excluded from the matrix. tmpak2llvmy_mondo_relaxed.owl pre-enamel tissue|preenamel tissue owl:Class UBERON:0005087 biolink:NamedThing tooth placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. tmpak2llvmy_mondo_relaxed.owl tooth primordium|dental placode|tooth anlage|tooth germ|dental primordium|odontogenic placode|dental anlage owl:Class HP:0000202 biolink:NamedThing Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. tmpak2llvmy_mondo_relaxed.owl Cleft lip/palate|Cleft lip, cleft palate|Cleft of the mouth|Oral clefting UMLS:C4021813|UMLS:C0158646|SNOMEDCT_US:253983005|SNOMEDCT_US:66948001 human_phenotype owl:Class MONDO:0012855 biolink:NamedThing Joubert syndrome 8 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in ARL13B|JBTS8|ARL13B Joubert syndrome|Joubert syndrome type 8|Joubert syndrome 8 OMIM:612291|UMLS:C2676771|DOID:0111003|MESH:C567358 owl:Class GO:0001707 biolink:NamedThing mesoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpak2llvmy_mondo_relaxed.owl owl:Class N20169170e86a4e5581d3b9db00819255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ENVO:00000446 biolink:NamedThing terrestrial biome A biome which is primarily or completely situated on a landmass. tmpak2llvmy_mondo_relaxed.owl terrestrial realm owl:Class GO:0002775 biolink:NamedThing antimicrobial peptide production The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8619 biolink:NamedThing PAX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008479 biolink:NamedThing spondylometaphyseal dysplasia, 'corner fracture' type A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia, Sutcliffe type|spondylometaphyseal dysplasia corner fracture type|Sutcliffe SmD|spondylometaphyseal dysplasia Sutcliffe type|Sutcliffe type of spondylometaphyseal dysplasia|SMDCF|spondylometaphyseal dysplasia, corner fracture type Orphanet:93315|MESH:C535793|GARD:0004991|OMIM:184255|ICD10:Q77.8|SCTID:254078005|UMLS:C0432221 https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type owl:Class CL:0000019 biolink:NamedThing sperm A mature male germ cell that develops from a spermatid. tmpak2llvmy_mondo_relaxed.owl spermatozoon|sperm cell|spermatozoid FBbt:00004954|BTO:0001277|WBbt:0006798|FMA:67338|BTO:0002046|CALOHA:TS-0949 cell owl:Class CL:0000327 biolink:NamedThing extracellular matrix secreting cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0010912 biolink:NamedThing positive regulation of isomerase activity Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3666 biolink:NamedThing FGF10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008303 biolink:NamedThing familial male-limited precocious puberty Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. tmpak2llvmy_mondo_relaxed.owl testotoxicosis|FMPP|precocious puberty, male limited|pubertas praecox|sexual precocity, familial, gonadotropin-independent|familial gonadotropin-independent male-limited sexual precocity|peripheral precocious puberty caused by mutation in LHCGR|Leydig cell adenoma, somatic, with male-limited precocious puberty|LHCGR peripheral precocious puberty|familial Testotoxicosis (subtype)|testotoxicosis, familial|precocious puberty, male-limited|male-limited precocious puberty DOID:0111545|MedDRA:10063656|ICD10:E30.1|MedDRA:10063654|OMIM:176410|Orphanet:3000|GARD:0004475|SCTID:237818003|UMLS:C1504412 owl:Class MONDO:0005972 biolink:NamedThing streptococcal pneumonia A febrile disease caused by streptococcus pneumoniae. tmpak2llvmy_mondo_relaxed.owl pneumonia caused by streptococcus|Streptococcus pneumonia|pneumonia due to streptococcus|Streptococcus pneumoniae pneumonia|pneumococcal pneumonia|Streptococcus pneumoniae caused pneumonia|streptococcal pneumonia EFO:0007499|ICD9:481|ICD9:482.39|ICD10:J13|UMLS:C0155862|DOID:0040084|SCTID:233607000|MESH:D011018|ICD9:482.30 owl:Class MONDO:0013653 biolink:NamedThing Parkinson disease 18, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary late onset Parkinson disease caused by mutation in EIF4G1|EIF4G1 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 18|PARK18|Parkinson disease 18, autosomal dominant, susceptibility to UMLS:C3280271|OMIM:614251 owl:Class UBERON:0008861 biolink:NamedThing pyloric gastric gland The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. tmpak2llvmy_mondo_relaxed.owl pyloric mucuous gland|glandula pylorica|pyloric gland|pyloric antrum gland owl:Class GO:0033578 biolink:NamedThing protein glycosylation in Golgi The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpak2llvmy_mondo_relaxed.owl protein amino acid glycosylation in Golgi|terminal glycosylation owl:Class HGNC:6501 biolink:NamedThing LAMP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26006 biolink:NamedThing TTC19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008944 biolink:NamedThing Joubert syndrome 1 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome caused by mutation in INPP5E|Joubert syndrome|CORS1|Joubert syndrome type 1|CPD4|cerebellooculorenal syndrome 1|cerebelloparenchymal disorder 4|JBTS1|Joubert-Boltshauser syndrome|Cerebellooculorenal syndrome 1|Joubert syndrome 1|INPP5E Joubert syndrome OMIM:213300|DOID:0110980|UMLS:CN119531 owl:Class PATO:0001555 biolink:NamedThing has number of The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. tmpak2llvmy_mondo_relaxed.owl number of|mereological quality|extra or missing physical or functional parts|cardinality|number|has or lacks parts of type owl:Class NCBITaxon:2560526 biolink:NamedThing Human orthorubulavirus 4 tmpak2llvmy_mondo_relaxed.owl human parainfluenza virus|Human parainfluenza virus type 4|HPIV type 4|Parainfluenza virus type 4|Human parainfluenza virus 4|HPIV4|Human rubulavirus 4 GC_ID:1 NCBITaxon:1979161|NCBITaxon:11203 ncbi_taxonomy owl:Class MONDO:0020739 biolink:NamedThing autosomal recessive infantile hypercalcemia 1 tmpak2llvmy_mondo_relaxed.owl autosomal recessive infantile hypercalcemia 1|HCINF1|hypercalcemia, infantile, 1 UMLS:C0268080|OMIM:143880 owl:Class HP:0000651 biolink:NamedThing Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. tmpak2llvmy_mondo_relaxed.owl Double vision UMLS:C0012569|SNOMEDCT_US:24982008|MSH:D004172 human_phenotype owl:Class CHEBI:32505 biolink:NamedThing phenylalaninium An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. tmpak2llvmy_mondo_relaxed.owl phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation owl:Class UBERON:0010561 biolink:NamedThing pedal digit 5 metatarsal cartilage element A pedal digit metatarsal cartilage element that is part of a pedal digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl foot digit 5 metatarsal cartilage element|pedal digit V metatarsal cartilage element|toe 5 metatarsal cartilage element|hind limb digit 5 metatarsal cartilage element owl:Class GO:0045649 biolink:NamedThing regulation of macrophage differentiation Any process that modulates the frequency, rate or extent of macrophage differentiation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007902 biolink:NamedThing lichen planus, familial An instance of lichen planus that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl lichen planus, familial|hereditary lichen planus UMLS:C1835402|OMIM:151620|MESH:C563624 owl:Class UBERON:0001955 biolink:NamedThing epithelium of respiratory bronchiole An epithelium that is part of a respiratory bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiolus respiratorius epithelium|epithelium of bronchiolus respiratorius|respiratory bronchiole epithelium|respiratory bronchiole epithelial tissue|epithelial tissue of bronchiolus respiratorius|epithelial tissue of respiratory bronchiole|bronchiolus respiratorius epithelial tissue owl:Class MONDO:0015649 biolink:NamedThing micturation-induced seizures Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. tmpak2llvmy_mondo_relaxed.owl Orphanet:166430|UMLS:CN200059|ICD10:G40.8 owl:Class GO:0060073 biolink:NamedThing micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. tmpak2llvmy_mondo_relaxed.owl urine voiding|urination owl:Class MONDO:0014307 biolink:NamedThing Dowling-Degos disease 4 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. tmpak2llvmy_mondo_relaxed.owl Dowling-Degos disease type 4|DDD4|Dowling-Degos disease caused by mutation in POGLUT1|POGLUT1 Dowling-Degos disease|Dowling-Degos disease 4 UMLS:C3810313|OMIM:615696 owl:Class HGNC:22954 biolink:NamedThing POGLUT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12563 biolink:NamedThing UMPS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013510 biolink:NamedThing lumbar vertebra pre-cartilage condensation A lumbar vertebra endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8157 biolink:NamedThing SIGMAR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012614 biolink:NamedThing intellectual disability, autosomal recessive 6 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 6|GRIK2 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 6|intellectual disability, autosomal recessive 6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|intellectual disability, autosomal recessive type 6|MRT6 MESH:C567017|UMLS:C1970198|OMIM:611092 owl:Class NCBITaxon:2169991 biolink:NamedThing Argentinian mammarenavirus tmpak2llvmy_mondo_relaxed.owl Junin mammarenavirus|Junn mammarenavirus|Junin arenavirus|Junin virus GC_ID:1 NCBITaxon:11619 ncbi_taxonomy owl:Class MONDO:0003431 biolink:NamedThing lipoadenoma An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. tmpak2llvmy_mondo_relaxed.owl lipoadenoma (morphologic abnormality)|adenolipoma, benign|lipoadenoma ICDO:8324/0|UMLS:C0334325|DOID:5398|NCIT:C4159 owl:Class MONDO:0014675 biolink:NamedThing autosomal recessive nonsyndromic deafness 104 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive type 104|autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2|autosomal recessive nonsyndromic deafness type 104|RIPOR2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 104|DFNB104|deafness, autosomal recessive 104 UMLS:C4225298|DOID:0110465|ICD10:H90.3|OMIM:616515 owl:Class HGNC:13872 biolink:NamedThing RIPOR2 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:02500005 biolink:NamedThing land degradation A process which diminishes the functioning of an ecosystem located on land. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11098 biolink:NamedThing SMARCA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003120 biolink:NamedThing pharyngeal arch artery 3 The vessels formed within the third pair of branchial arches in embryogenesis tmpak2llvmy_mondo_relaxed.owl aortic arch 3|3rd branchial arch artery|AA3|3rd aortic arch artery|third branchial arch artery|3rd arch artery|3rd pharyngeal arch artery|carotid arch|third aortic arch owl:Class UBERON:0003114 biolink:NamedThing pharyngeal arch 3 The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. tmpak2llvmy_mondo_relaxed.owl third visceral arch|branchial arch 1|third pharyngeal arch|first gill arch|visceral arch 3|first branchial arch|3rd pharyngeal arch|3rd arch|gill arch 1|3rd visceral arch owl:Class HP:0003187 biolink:NamedThing Breast hypoplasia Underdevelopment of the breast. tmpak2llvmy_mondo_relaxed.owl Underdeveloped breasts SNOMEDCT_US:8915006|UMLS:C0266013 HP:0000784 human_phenotype owl:Class UBERON:0004439 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 5 A proximal epiphysis that is part of a middle phalanx of manual digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl proximal epiphysis of middle phalanx of little finger|basal epiphysis of middle phalanx of fifth finger|basal epiphysis of middle phalanx of little finger|proximal epiphysis of middle phalanx of manual digit V|base of middle phalanx of fifth digit of hand|base of middle phalanx of fifth finger|base of middle phalanx of little finger owl:Class MONDO:0017829 biolink:NamedThing autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. tmpak2llvmy_mondo_relaxed.owl AD pRTA|proximal renal tubular acidosis, autosomal dominant UMLS:CN203801|Orphanet:314889|ICD10:N25.8 owl:Class GO:0010032 biolink:NamedThing meiotic chromosome condensation Compaction of chromatin structure prior to meiosis in eukaryotic cells. tmpak2llvmy_mondo_relaxed.owl chromosome condensation involved in meiotic cell cycle owl:Class GO:0030849 biolink:NamedThing autosome Any chromosome other than a sex chromosome. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012651 biolink:NamedThing spastic ataxia 2 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. tmpak2llvmy_mondo_relaxed.owl spastic ataxia caused by mutation in KIF1C|spastic ataxia 2, autosomal recessive|SPG58|spastic ataxia type 2|KIF1C spastic ataxia|SPAX2|spastic ataxia 2|autosomal recessive spastic ataxia type 2|autosomal recessive spastic paraplegia type 58 Orphanet:397946|MESH:C566969|OMIM:611302|UMLS:C1969796|ICD10:G11.4|DOID:0050941 owl:Class NCBITaxon:29189 biolink:NamedThing Ammonia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014942 biolink:NamedThing developmental and epileptic encephalopathy, 45 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in GABRB1|epileptic encephalopathy, early infantile, 45; EIEE45|epileptic encephalopathy, early infantile, 45|GABRB1 early infantile epileptic encephalopathy|EIEE45|DEE45|epileptic encephalopathy, early infantile, type 45 OMIM:617153|DOID:0080428|UMLS:C4310691 owl:Class MONDO:0014674 biolink:NamedThing maturity-onset diabetes of the young type 14 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene. tmpak2llvmy_mondo_relaxed.owl MODY14|maturity-onset diabetes of the young, type 14|APPL1 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in APPL1 DOID:0111111|UMLS:C4225299|OMIM:616511 owl:Class HGNC:24035 biolink:NamedThing APPL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0045050 biolink:NamedThing nuclear cataract A cataract (disease) that involves the lens nucleus. tmpak2llvmy_mondo_relaxed.owl lens nucleus cataract (disease)|cataract (disease) of lens nucleus ICD9:366.04|SCTID:53889007|HP:0100018 owl:Class MONDO:0012939 biolink:NamedThing Diamond-Blackfan anemia 8 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia caused by mutation in RPS7|RPS7 Diamond-Blackfan anemia|Diamond-Blackfan anemia 8|DBA8|Diamond-Blackfan Anemia type 8 UMLS:C2675511|MESH:C567253|OMIM:612563 owl:Class HGNC:20134 biolink:NamedThing GLRX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007356 biolink:NamedThing Lynch syndrome 1 Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. tmpak2llvmy_mondo_relaxed.owl Hereditary non-polyposis colon cancer type 1|colorectal cancer, hereditary nonpolyposis, type 1|Lynch 1 syndrome|Lynch syndrome 2|COCA1|familial non-polyposis colon cancer type 1|hereditary nonpolyposis colorectal cancer type 1|LYNCH syndrome I|Lynch syndrome 1|Lynch syndrome type 1|HNPCC1|colon cancer, familial nonpolyposis, type 1 MESH:C537261|OMIM:120435|DOID:0070271 owl:Class PR:000001898 biolink:NamedThing neprilysin tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024322 biolink:NamedThing disorder of glycosylation A disease that has its basis in the disruption of glycosylation. tmpak2llvmy_mondo_relaxed.owl glycosylation disease|disorder of glycosylation May be inborn or somatic owl:Class OBO:CHR_9606-chr7q1 biolink:NamedThing chr7q1 (Human) tmpak2llvmy_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class GO:0006591 biolink:NamedThing ornithine metabolic process The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpak2llvmy_mondo_relaxed.owl ornithine metabolism owl:Class MONDO:0013714 biolink:NamedThing mannose-binding lectin deficiency tmpak2llvmy_mondo_relaxed.owl MBP deficiency|MBLD|MBL deficiency|mannose-binding lectin deficiency|mannose-binding protein deficiency|MBL2 deficiency|lectin complement activation pathway, defect in, 1 SCTID:703538003|UMLS:C3280586|MESH:C563602|OMIM:614372|ICD9:279.19 owl:Class CL:0000775 biolink:NamedThing neutrophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. tmpak2llvmy_mondo_relaxed.owl polymorphonuclear leukocyte|neutrophilic leucocyte|polymorphonuclear leucocyte|polynuclear neutrophilic leukocyte|neutrophil leucocyte|neutrocyte|PMN|neutrophil leukocyte|poly|neutrophilic leukocyte|polynuclear neutrophilic leucocyte|polymorphonuclear neutrophil FMA:62860|BTO:0000130|CALOHA:TS-0688 cell owl:Class ENVO:01000638 biolink:NamedThing planetary crust A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle. tmpak2llvmy_mondo_relaxed.owl crust owl:Class UBERON:0000361 biolink:NamedThing red bone marrow The red vascular substance consisting of connective tissue and blood vessels, containing primitive blood cells, macrophages, megakaryocytes, and fat cells. Red marrow is found in the cavities of many bones. It manufactures and releases leukocytes and erythrocytes into the bloodstream. tmpak2llvmy_mondo_relaxed.owl medulla ossium rubra|parenchymal red marrow|parenchyma of none marrow marrow|red marrow owl:Class MONDO:0014367 biolink:NamedThing Aicardi-Goutieres syndrome 7 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. tmpak2llvmy_mondo_relaxed.owl IFIH1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|AGS7|Aicardi-Goutieres syndrome type 7 OMIM:615846|UMLS:C3888244 owl:Class MONDO:0011676 biolink:NamedThing PHACE syndrome PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm, giant congenital|P-CIIS|pascual-Castroviejo syndrome type 2|PHACE association|pascual-Castroviejo type II syndrome|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|Phaces association OMIM:606519|MedDRA:10068032|Orphanet:42775|ICD10:Q28.8|GARD:0008338|UMLS:C1847874 owl:Class MONDO:0014007 biolink:NamedThing Aicardi-Goutieres syndrome 6 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene. tmpak2llvmy_mondo_relaxed.owl Aicardi-Goutieres syndrome 6|Aicardi-Goutieres syndrome caused by mutation in Adar|ADAR Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in ADAR|Aicardi-Goutieres syndrome type 6|Adar Aicardi-Goutieres syndrome|AGS6 UMLS:C3539013|OMIM:615010 owl:Class HGNC:225 biolink:NamedThing ADAR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044318 biolink:NamedThing intellectual developmental disorder with gastrointestinal difficulties and high pain threshold IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). tmpak2llvmy_mondo_relaxed.owl IDDGIP|intellectual developmental disorder with gastrointestinal difficulties and high pain threshold UMLS:C4479517|OMIM:617450 owl:Class HGNC:870 biolink:NamedThing ATP7B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003534 biolink:NamedThing tail skin A zone of skin that is part of a tail [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of tail|post-vent region skin|skin of post-vent region owl:Class MONDO:0010297 biolink:NamedThing FG syndrome 2 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. tmpak2llvmy_mondo_relaxed.owl FGS2|FG syndrome 2|FLNA FG syndrome|FG syndrome type 2|FG syndrome caused by mutation in FLNA GARD:0009923|UMLS:C1845902|OMIM:300321 https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2 owl:Class HGNC:4311 biolink:NamedThing GCLC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100051 biolink:NamedThing idiopathic mast cell activation syndrome Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable. tmpak2llvmy_mondo_relaxed.owl idiopathic MACS 2018-07-17 21:46:53+00:00 owl:Class GO:0007417 biolink:NamedThing central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpak2llvmy_mondo_relaxed.owl CNS development owl:Class MONDO:0008179 biolink:NamedThing paroxysmal extreme pain disorder Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. tmpak2llvmy_mondo_relaxed.owl PEPD|familial rectal pain|Pexpd|submandibular, ocular, and rectal pain with flushing|rectal pain, familial|pain, submandibular, ocular, and rectal, with flushing|paroxysmal extreme pain disorder|familial rectal syndrome Orphanet:46348|GARD:0012854|SCTID:699190008|MESH:C563475|OMIM:167400|DOID:0111537|UMLS:C1833661|NCIT:C125385|ICD9:349.89 https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder owl:Class UBERON:0014540 biolink:NamedThing white matter lamina of cerebellum The white laminae of cerebellum is subdivision of the cerebellar cortex comprised of myelinated axons lying deep to the granule cell layer of the cerebellar cortex. tmpak2llvmy_mondo_relaxed.owl lamina alba of cerebellar cortex|white lamina of cerebellum|laminae albae of cerebellar cortex|isthmus of the cingulate gyrus|isthmus-2|white laminae of cerebellum|isthmus gyri cinguli|isthmus cinguli|isthmus of gyrus fornicatus|isthmus gyri cingulatus owl:Class UBERON:0004679 biolink:NamedThing dentate gyrus molecular layer The molecular layer of the dentate gyrus that is bounded by the pial surface superficially and the dentate gyrus granule cell layer deep. It is divided into 2 or more sublayers. tmpak2llvmy_mondo_relaxed.owl dentate gyrus molecular layer|molecular layer of the dentate gyrus|molecular layer of dentate gyrus|stratum moleculare gyri dentati owl:Class HGNC:15480 biolink:NamedThing DIAPH3 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q4 biolink:NamedThing chr1q4 (Human) tmpak2llvmy_mondo_relaxed.owl 248956422 214400000 hg38 owl:Class MONDO:0032616 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 10 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10|MC1DN10 OMIM:618233 owl:Class HGNC:28086 biolink:NamedThing NDUFAF2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006616 biolink:NamedThing right external ear An external ear that is in the right side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl right auricular region owl:Class UBERON:0000366 biolink:NamedThing flexor muscle a skeletal muscle whose contraction bends a joint. tmpak2llvmy_mondo_relaxed.owl flexor owl:Class UBERON:0006207 biolink:NamedThing aortico-pulmonary spiral septum The spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta[MP]. The aorticopulmonary septum is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. The actual mechanism of septation of the outflow tract is poorly understood, but is recognized as a dynamic process with contributions from contractile, hemodynamic, and extracellular matrix interactions. tmpak2llvmy_mondo_relaxed.owl septum aorticopulmonale|aortic septum|aortico-pulmonary septum|aorticopulmonary septum|spiral septum owl:Class MONDO:0010162 biolink:NamedThing tyrosinemia type III Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. tmpak2llvmy_mondo_relaxed.owl 4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia type 3|4-Hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia due to HPD deficiency|4-Hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia, type III|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|TYRSN3|tyrosinemia, type 3|tyrosinemia type III|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency DOID:0050727|GARD:0010332|Orphanet:69723|ICD9:270.2|UMLS:C0268623|SCTID:415764005|OMIM:276710|ICD10:E70.2|MedDRA:10069461 https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 owl:Class MONDO:0003809 biolink:NamedThing malignant mediastinum hemangiopericytoma A malignant hemangiopericytoma arising in the mediastinum. tmpak2llvmy_mondo_relaxed.owl malignant hemangiopericytoma of mediastinum|malignant hemangiopericytoma of the mediastinum|mediastinum spindle cell tumor|malignant mediastinal hemangiopericytoma|mediastinum hemangiopericytoma UMLS:C1334598|DOID:6209|NCIT:C6608 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0014043 biolink:NamedThing microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. tmpak2llvmy_mondo_relaxed.owl MCPH10|primary autosomal recessive microcephaly 10|microcephalic primordial dwarfism, Walsh type|microcephaly 10, primary, autosomal recessive Orphanet:329228|DOID:0070294|ICD10:Q87.1|UMLS:C3554499|UMLS:C4510378|OMIM:615095|SCTID:724141003 owl:Class MONDO:0012405 biolink:NamedThing polyposis syndrome, hereditary mixed, 2 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. tmpak2llvmy_mondo_relaxed.owl polyposis syndrome, hereditary mixed, type 2|HMPS2|polyposis syndrome, hereditary mixed, 2|BMPR1A hereditary mixed polyposis syndrome|hereditary mixed polyposis syndrome caused by mutation in BMPR1A UMLS:C1864730|MESH:C566451|DOID:0111686|OMIM:610069 owl:Class HGNC:1076 biolink:NamedThing BMPR1A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:39433 biolink:NamedThing PRSS56 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030252 biolink:NamedThing growth hormone secretion The regulated release of growth hormone from secretory granules into the blood. tmpak2llvmy_mondo_relaxed.owl somatotropin secretion owl:Class UBERON:0005686 biolink:NamedThing caecum dorsal mesentery A dorsal mesentery that is part of a caecum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014965 biolink:NamedThing lethal congenital contracture syndrome 11 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. tmpak2llvmy_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in GLDN|lethal congenital contracture arthrogryposis-11|LCCS11|lethal congenital contracture syndrome 11|lethal congenital contracture syndrome 11; LCCS11|GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome type 11 GARD:0013220|OMIM:617194|UMLS:C4310670 owl:Class HGNC:29514 biolink:NamedThing GLDN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30078 biolink:NamedThing REEP6 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33888 biolink:NamedThing cobalt molecular entity tmpak2llvmy_mondo_relaxed.owl cobalt molecular entities|cobalt molecular entity|cobalt compounds owl:Class HGNC:28741 biolink:NamedThing ILDR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008852 biolink:NamedThing congenital central hypoventilation syndrome A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. tmpak2llvmy_mondo_relaxed.owl congenital central alveolar hypoventilation syndrome|congenital ondine curse|ondine curse (formerly)|congenital central hypoventilation syndrome|CCHS|primary alveolar hypoventilation|idiopathic congenital central alveolar hypoventilation|central congenital hypoventilation syndrome|ondine's curse (formerly)|central hypoventilation syndrome, congenital|autonomic control, congenital failure of|Cchs with Hirschsprung disease|congenital failure of autonomic control|ondine-Hirschsprung disease|ondine syndrome|Haddad syndrome|congenital central hypoventilation|ondine curse, congenital|ondine curse SCTID:230499002|Orphanet:661|MedDRA:10007982|DOID:0060731|ICD10:G47.3|UMLS:C1275808|MedDRA:10066131|GARD:0008535|NCIT:C98889|OMIM:209880 https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome owl:Class UBERON:0010570 biolink:NamedThing manual digit 1 metacarpus cartilage element A manual digit metacarpus cartilage element that is part of a manual digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl fore limb digit 1 metacarpus cartilage element|manual digit I metacarpus cartilage element|hand digit 1 metacarpus cartilage element|finger 1 metacarpus cartilage element|metacarpus 1 cartilage element owl:Class MONDO:0009470 biolink:NamedThing Baraitser-Winter syndrome 1 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. tmpak2llvmy_mondo_relaxed.owl ACTB Baraitser-Winter cerebrofrontofacial syndrome|pachygyria, intellectual disability, epilepsy, and characteristic facies|Fryns-Aftimos syndrome|iris coloboma with ptosis, hypertelorism, and mental retardation|cerebrofrontofacial syndrome|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|Baraitser-Winter syndrome type 1|mental retardation with epilepsy and characteristic facies|intellectual disability with epilepsy and characteristic facies|cerebrooculofacial lymphatic syndrome|Baraitser-WINTER syndrome 1|Baraitser-Winter syndrome 1|pachygyria, mental retardation, epilepsy, and characteristic facies|chromosome 7P22 deletion syndrome|BRWS1|iris coloboma with ptosis, hypertelorism, and intellectual disability UMLS:C1837819|UMLS:C1853623|OMIM:243310 owl:Class HGNC:132 biolink:NamedThing ACTB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014329 biolink:NamedThing atrial standstill 2 Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene. tmpak2llvmy_mondo_relaxed.owl atrial standstill type 2|ATRST2|atrial standstill 2|NPPA atrial standstill|cardiomyopathy, atrial dilated, with atrial standstill|atrial standstill caused by mutation in NPPA|atrial dilation and standstill UMLS:C3810401|OMIM:615745 owl:Class CHEBI:149552 biolink:NamedThing emetic Any agent that induces nausea and vomiting. tmpak2llvmy_mondo_relaxed.owl emetics owl:Class HGNC:2400 biolink:NamedThing CRYBB3 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:57934 biolink:NamedThing psychosine(1+) The ammonium ion resulting from the protonation of the amino group of psychosine. tmpak2llvmy_mondo_relaxed.owl (2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium|beta-D-galactosyl-(1<->1)-sphing-4-enine|(2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium owl:Class MONDO:0024330 biolink:NamedThing infectious otitis media Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. tmpak2llvmy_mondo_relaxed.owl middle Ear infection|otitis media|acute otitis Media|infectious otitis Media|AOM NCIT:C84354|UMLS:C2827407|UMLS:C0271429 owl:Class UBERON:8410020 biolink:NamedThing venule of appendix A venule located in the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl vermiform appendix venule|venule of vermiform appendix owl:Class MONDO:0003423 biolink:NamedThing middle ear adenoma A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. tmpak2llvmy_mondo_relaxed.owl adenoma of the middle ear|adenoma of middle ear|middle ear adenoma UMLS:C1334759|SCTID:734078009|DOID:5387|NCIT:C6834 owl:Class UBERON:0011104 biolink:NamedThing epiphysis of fifth metacarpal bone An epiphysis that is part of a metacarpal bone of digit 5. tmpak2llvmy_mondo_relaxed.owl fifth metacarpal bone epiphysis|metacarpal 5 epiphysis owl:Class CL:0002599 biolink:NamedThing smooth muscle cell of the esophagus A smooth muscle cell of the esophagus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:48:17Z cell owl:Class MONDO:0013444 biolink:NamedThing nephronophthisis 9 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. tmpak2llvmy_mondo_relaxed.owl NEK8 nephronophthisis (disease)|nephronophthisis 9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis type 9|NPHP9 UMLS:C3151188|OMIM:613824|DOID:0111120 owl:Class HGNC:13387 biolink:NamedThing NEK8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011339 biolink:NamedThing hereditary spastic paraplegia 8 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in WASHC5|autosomal dominant spastic paraplegia type 8|WASHC5 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 8|hereditary spastic paraplegia type 8|spastic paraplegia 8, autosomal dominant|spastic paraplegia 8|SPG8 GARD:0009591|UMLS:C1863704|ICD10:G11.4|OMIM:603563|Orphanet:100989|MESH:C580458|DOID:0110823 owl:Class ENVO:01001639 biolink:NamedThing formation of a solid aerosol from liquid material in an atmosphere A process during which microscopic solid particulates are formed from liquid materials in an atmosphere. tmpak2llvmy_mondo_relaxed.owl formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in an atmosphere|atmospheric formation of a solid aerosol|formation of a solid aerosol in the atmosphere owl:Class N790beec77edb4656a5dca775b759d27b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CHEBI:30099 biolink:NamedThing diazynediium tmpak2llvmy_mondo_relaxed.owl [HNNH](2+)|HNNH(2+)|diazynediium owl:Class CL:0002427 biolink:NamedThing resting double-positive thymocyte A double-positive, alpha-beta thymocyte that is small and not proliferating. tmpak2llvmy_mondo_relaxed.owl T.DP.sm.Th tmeehan 2010-10-21T01:59:06Z cell owl:Class CL:0002422 biolink:NamedThing enucleated reticulocyte A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. tmpak2llvmy_mondo_relaxed.owl FMA:66785|CALOHA:TS-0864 tmeehan 2010-10-15T09:24:08Z cell owl:Class GO:1905349 biolink:NamedThing ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. tmpak2llvmy_mondo_relaxed.owl cilial transition zone formation|cilial transition zone assembly|cilium transition zone assembly|ciliary transition zone formation|cilium transition zone formation owl:Class NCBITaxon:46919 biolink:NamedThing Whitewater Arroyo mammarenavirus tmpak2llvmy_mondo_relaxed.owl Whitewater Arroyo virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013015 biolink:NamedThing Brugada syndrome 5 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene. tmpak2llvmy_mondo_relaxed.owl Brugada syndrome type 5|Brugada syndrome 5|Brugada syndrome caused by mutation in SCN1B|BRGDA5|Cardiac conduction defect, nonspecific|SCN1B Brugada syndrome OMIM:612838|UMLS:C2748541|ICD10:I49.8|DOID:0110222 owl:Class UBERON:0001972 biolink:NamedThing submucosa of esophagus A submucosa that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl esophageal submucosa|esophagus submucosa|submucosa of gullet|tela submucosa (oesophagus)|tela submucosa of esophagus|gullet submucosa|submucous layer of esophagus|oesophagus submucosa|submucosa of esophagus|tela submucosa oesophageae|tela submucosa esophagi|submucosa of oesophagus|tela submucosa oesophagi owl:Class ENVO:00000128 biolink:NamedThing dry valley A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1058 biolink:NamedThing BLM tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001234 biolink:NamedThing negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. tmpak2llvmy_mondo_relaxed.owl negative regulation of apoptotic signalling pathway owl:Class GO:0097190 biolink:NamedThing apoptotic signaling pathway A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. tmpak2llvmy_mondo_relaxed.owl induction of apoptosis by extracellular signals|apoptotic signalling pathway owl:Class UBERON:0011166 biolink:NamedThing patellofemoral joint tmpak2llvmy_mondo_relaxed.owl femoropatellar joint|patello femoral joint|femorapatellar joint owl:Class HP:0003429 biolink:NamedThing CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. tmpak2llvmy_mondo_relaxed.owl hypomyelination UMLS:C0544820|SNOMEDCT_US:111007000|UMLS:C4025616 human_phenotype owl:Class GO:0002698 biolink:NamedThing negative regulation of immune effector process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. tmpak2llvmy_mondo_relaxed.owl inhibition of immune effector process|down regulation of immune effector process|downregulation of immune effector process|down-regulation of immune effector process owl:Class MONDO:0023642 biolink:NamedThing Weber syndrome tmpak2llvmy_mondo_relaxed.owl Weber-Gubler syndrome|Weber Syndrome|Midbrain stroke syndromes GARD:0008676|SCTID:24654003|ICD9:344.89|UMLS:C0455717 owl:Class MONDO:0020483 biolink:NamedThing acetazolamide-responsive myotonia Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). tmpak2llvmy_mondo_relaxed.owl myotonia-painful contractions syndrome|ACZ-responsive congenital myotonia|Acetazolamide-responsive congenital myotonia|ACZ-responsive myotonia|painful myotonia|painful congenital myotonia Orphanet:99736|SCTID:715793003|ICD10:G71.1 owl:Class MONDO:0014245 biolink:NamedThing Diamond-Blackfan anemia 12 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan Anemia type 12|Diamond-Blackfan anemia 12|DBA12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL15 OMIM:615550|UMLS:C3809888 owl:Class HGNC:10306 biolink:NamedThing RPL15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002762 biolink:NamedThing esophagus verrucous carcinoma A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) tmpak2llvmy_mondo_relaxed.owl verrucous carcinoma of the esophagus|esophageal verrucous carcinoma|esophagus verrucous carcinoma|verrucous carcinoma of esophagus|esophageal verrucous cancer DOID:3747|NCIT:C27420|UMLS:C1333470 owl:Class MONDO:0004767 biolink:NamedThing vesiculitis An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. tmpak2llvmy_mondo_relaxed.owl seminal vesiculitis|seminal vesicle|seminal Sacs|gland, seminal vesicle|inflammation of seminal vesicle|seminal vesicle inflammation|seminal vesicles UMLS:C0042588|NCIT:C12787|ICD9:608.0|SCTID:27001009|DOID:9365|ICD10:N49.0 owl:Class UBERON:0005299 biolink:NamedThing prepuce of clitoris A retractable double-layered fold of skin and mucous membrane that covers the clitoral glans. tmpak2llvmy_mondo_relaxed.owl preputium clitoridis|clitoral hood|clitoral prepuce|clitoris prepuce|prepuce of the clitoris|prepuce of female owl:Class GO:0031339 biolink:NamedThing negative regulation of vesicle fusion Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion. tmpak2llvmy_mondo_relaxed.owl downregulation of vesicle fusion|inhibition of vesicle fusion|down-regulation of vesicle fusion|down regulation of vesicle fusion owl:Class HGNC:9910 biolink:NamedThing RBMX tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002195 biolink:NamedThing trabecula of lymph node Membranous process coming from capsule of lymph node[WP]. tmpak2llvmy_mondo_relaxed.owl lymph node trabecula|lymph node trabeculum owl:Class CHEBI:25555 biolink:NamedThing nitrogen atom tmpak2llvmy_mondo_relaxed.owl nitrogen|azote|N|nitrogeno|7N|Stickstoff owl:Class MONDO:0021702 biolink:NamedThing alcohol amnestic disorder A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) tmpak2llvmy_mondo_relaxed.owl Korsakoff syndrome, alcoholic|alcohol induced amnestic syndrome|syndrome, alcoholic Korsakoff|alcohol induced Dysmnesic psychosis|amnestic psychosis, alcohol-induced|Korsakoff syndromes, alcohol-induced|alcoholic Korsakoff syndrome|syndromes, alcoholic Korsakoff|syndromes, alcohol-induced Dysmnesic|psychoses, alcohol-induced Dysmnesic|syndrome, alcohol-induced Korsakoff|amnestic syndrome, alcohol-induced|Korsakoff syndromes, alcoholic|alcohol induced persisting amnestic disorder|syndromes, alcohol-induced Korsakoff|syndrome, alcohol-induced Dysmnesic|alcoholic Korsakoff syndromes|alcohol induced Dysmnesic syndrome|alcohol-induced Dysmnesic syndromes|amnestic disorders, alcohol|Dysmnesic psychoses, alcohol-induced|alcohol-induced amnestic psychoses|alcohol amnestic syndromes|alcohol-induced amnestic syndromes|alcohol-induced Dysmnesic syndrome|syndrome, alcohol amnestic|amnestic disorder, alcohol|psychosis, alcohol-induced Dysmnesic|alcohol-induced Korsakoff syndrome|Korsakoff syndrome, alcohol-induced|alcohol induced amnestic psychosis|amnestic syndrome, alcohol|alcohol-induced amnestic psychosis|alcohol amnestic disorders|alcohol-induced Dysmnesic psychoses|psychosis, alcohol-induced amnestic|Dysmnesic psychosis, alcohol-induced|amnestic psychoses, alcohol-induced|alcohol-induced Korsakoff syndromes|alcohol-induced persisting amnestic disorder|alcohol induced Korsakoff syndrome|amnestic psychosis, alcohol induced|syndromes, alcohol amnestic|syndromes, alcohol-induced amnestic|syndrome, alcohol-induced amnestic|Dysmnesic syndromes, alcohol-induced|amnestic syndromes, alcohol|alcohol-induced amnestic syndrome|alcohol-induced Dysmnesic psychosis|Dysmnesic syndrome, alcohol-induced|amnestic syndromes, alcohol-induced|psychoses, alcohol-induced amnestic|alcohol amnestic syndrome MESH:D000425|SCTID:73097000|EFO:1001759 owl:Class Nd20f3147169245a2bfefc8df29841d02 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:CHR_9606-chr11p13 biolink:NamedThing chr11p13 (Human) tmpak2llvmy_mondo_relaxed.owl 36400000 31000000 hg38 owl:Class MONDO:0002834 biolink:NamedThing primary prostate urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. tmpak2llvmy_mondo_relaxed.owl primary prostate urothelial carcinoma|transitional cell carcinoma of prostate|prostate urothelial carcinoma|primary prostate urothelial cancer|transitional cell carcinoma of the prostate|prostate transitional cell carcinoma|prostate gland transitional cell carcinoma DOID:4011|NCIT:C39898|UMLS:C1514430 owl:Class UBERON:0016528 biolink:NamedThing white matter of frontal lobe A white matter of cerebral lobe that is part of a frontal lobe. tmpak2llvmy_mondo_relaxed.owl frontal lobe white matter owl:Class MONDO:0010842 biolink:NamedThing multiple cutaneous and mucosal venous malformations Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. tmpak2llvmy_mondo_relaxed.owl VENOUS malformations, multiple cutaneous and mucosal|VMCM|cutaneous and mucosal venous malformation|Vmcm1|mucocutaneous venous malformations ICD10:Q27.8|OMIM:600195|DOID:0050792|MESH:C563977|SCTID:699301008|Orphanet:2451 owl:Class HGNC:11724 biolink:NamedThing TEK tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005979 biolink:NamedThing regulation of glycogen biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpak2llvmy_mondo_relaxed.owl regulation of glycogen formation|regulation of glycogen synthesis|regulation of glycogen anabolism|regulation of glycogen biosynthesis owl:Class Nc759239f40af4faba7bead7423fb047c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0005897 biolink:NamedThing manus bone A bone that is part of the manus skeleton. Note that this includes the carpal bones. tmpak2llvmy_mondo_relaxed.owl forelimb autopodium bone|bone of hand|bone of hand skeleton|hand bone|bone of manus|bone of pectoral limb autopod|bone of pectoral limb autopodium|forelimb autopod bone owl:Class UBERON:0005046 biolink:NamedThing mucosa of hard palate A mucosa that is part of a hard palate [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hard palate mucous membrane|mucous membrane of hard palate|organ mucosa of hard palate|hard palate mucosa owl:Class GO:0051930 biolink:NamedThing regulation of sensory perception of pain Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007944 biolink:NamedThing Treacher-Collins syndrome 1 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. tmpak2llvmy_mondo_relaxed.owl Treacher Collins syndrome type 1|TREACHER COLLINS syndrome 1|Treacher Collins-Franceschetti syndrome|Treacher-Collins syndrome caused by mutation in TCOF1|mandibulofacial dysostosis|Treacher Collins syndrome|Treacher-Collins syndrome 1|TCS1|TCOF1 Treacher-Collins syndrome UMLS:CN119605|OMIM:154500 owl:Class CHEBI:79314 biolink:NamedThing flame retardant Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. tmpak2llvmy_mondo_relaxed.owl flame retardants owl:Class MONDO:0013103 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 10 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene. tmpak2llvmy_mondo_relaxed.owl GABRD juvenile myoclonic epilepsy|juvenile myoclonic epilepsy caused by mutation in GABRD|susceptibility to idiopathic generalized epilepsy 10|epilepsy, juvenile myoclonic, susceptibility to, 7|Gefsp5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, type 10|Gefs+, type 5, susceptibility to|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10|EIG10|Gefs+5, susceptibility to OMIM:613060|DOID:0111292 owl:Class HGNC:4084 biolink:NamedThing GABRD tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001176 biolink:NamedThing environment associated with an aquatic invertebrate An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system. tmpak2llvmy_mondo_relaxed.owl owl:Class Nfa78f048122c4ffeb1a41f3f614974e1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:25751 biolink:NamedThing TRAPPC11 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002656 biolink:NamedThing glandular cell of endometrium A glandular epithelial cell of the endometrium. tmpak2llvmy_mondo_relaxed.owl FMA:86489 tmeehan 2011-07-08T03:54:08Z cell owl:Class MONDO:0004709 biolink:NamedThing occipital lobe neoplasm A neoplasm involving a occipital lobe. tmpak2llvmy_mondo_relaxed.owl neoplasm of occipital lobe|tumor of occipital lobe|occipital lobe tumor|tumor of the occipital lobe|neoplasm of the occipital lobe|malignant neoplasm of occipital lobe|occipital lobe neoplasm|occipital lobe neoplasm (disease) NCIT:C5574|SCTID:126957005|ICD10:C71.4|UMLS:C0153638|UMLS:C1263889|DOID:910|ICD9:191.4 owl:Class HGNC:7698 biolink:NamedThing NDUFB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008293 biolink:NamedThing porokeratosis 3, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl Dsap|porokeratosis, disseminated superficial actinic, 1|porokeratosis 3, disseminated superficial actinic type|porokeratosis, disseminated superficial actinic 1|POROK3|DSAP1|porokeratosis 3, multiple types MESH:C536339|OMIM:175900|GARD:0009505 owl:Class HGNC:7530 biolink:NamedThing MVK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010232 biolink:NamedThing intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. tmpak2llvmy_mondo_relaxed.owl Ciip, X-linked|CIIP X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|CIIP|Ipox|congenital short bowel syndrome, X-linked|CIIPX|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|congenital idiopathic intestinal pseudoobstruction OMIM:300048|GARD:0003017|MESH:C535532 https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked owl:Class Nad14b3144f734e6d964b94ebe8cb6489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019114 biolink:NamedThing psychogenic movement disorders Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. tmpak2llvmy_mondo_relaxed.owl psychogenic dystonia Orphanet:71519|ICD10:F44.4|MedDRA:10072376|UMLS:C3267131 owl:Class GO:0031965 biolink:NamedThing nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011270 biolink:NamedThing dorsal trunk The part of the trunk that is in the dorsum[cjm]. tmpak2llvmy_mondo_relaxed.owl back of trunk|dorsum of trunk|trunk back|dorsal part of trunk owl:Class Nc3178cbc25e04f199588b504e7d808c4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:8549 biolink:NamedThing BLOC1S6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100203 biolink:NamedThing parainfluenza virus type 1 infectious disease A disease caused by infection with parainfluenza virus type 1. tmpak2llvmy_mondo_relaxed.owl human respirovirus 1 infectious disease|parainfluenza 1 infection|infection caused by human parainfluenza virus 1|infection due to human parainfluenza virus 1 OMOP:4248511 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class HGNC:4335 biolink:NamedThing GLUD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:327 biolink:NamedThing AGPS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018577 biolink:NamedThing pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa tmpak2llvmy_mondo_relaxed.owl PXE-like syndrome with retinitis pigmentosa Orphanet:436274|UMLS:CN237597|ICD10:Q82.8 owl:Class MONDO:0024308 biolink:NamedThing pseudoxanthoma elasticum (inherited or acquired) An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. tmpak2llvmy_mondo_relaxed.owl PXE|pseudoxanthoma elasticum ICD9:757.39|SCTID:252246005 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0013464 biolink:NamedThing episodic ataxia type 5 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. tmpak2llvmy_mondo_relaxed.owl hereditary episodic ataxia caused by mutation in CACNB4|EA5|CACNB4 hereditary episodic ataxia|episodic ataxia, type 5 UMLS:C1866039|DOID:0050993|MESH:C566601|OMIM:613855|ICD10:G11.8|Orphanet:211067|SCTID:718756005 owl:Class Neb8de37875944e0e818651b646aaf352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:877 biolink:NamedThing ALDH7A1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p2 biolink:NamedThing chr1p2 (Human) tmpak2llvmy_mondo_relaxed.owl 106700000 84400000 hg38 owl:Class GO:0042589 biolink:NamedThing zymogen granule membrane The lipid bilayer surrounding a zymogen granule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042588 biolink:NamedThing zymogen granule A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004345 biolink:NamedThing trophectoderm outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000274 biolink:NamedThing trophectodermal cell tmpak2llvmy_mondo_relaxed.owl trophectoderm cell cell owl:Class MONDO:0021273 biolink:NamedThing leiomyoma of ciliary body A leiomyoma that involves the ciliary body. tmpak2llvmy_mondo_relaxed.owl ciliary body leiomyoma|leiomyoma of the ciliary body UMLS:C0346386|ICD9:224.0|SCTID:255020006|NCIT:C4560 owl:Class HGNC:8582 biolink:NamedThing PAH tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001609 biolink:NamedThing cryospheric layer A layer which is part of a cryosphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014612 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene. tmpak2llvmy_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4|PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4 UMLS:C4225347|OMIM:616371 owl:Class HGNC:8609 biolink:NamedThing PARN tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000194 biolink:NamedThing scree Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders. tmpak2llvmy_mondo_relaxed.owl talus slope|TALUS owl:Class UBERON:0003069 biolink:NamedThing otic placode A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK] tmpak2llvmy_mondo_relaxed.owl auditory placode|ear placode|octaval placode|ear/otic placode|octaval VIII placode|placoda otica owl:Class MONDO:0011529 biolink:NamedThing spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia type 13|cerebellar ataxia, autosomal dominant with mental retardation|autosomal dominant cerebellar ataxia with mental retardation|cerebellar ataxia, autosomal dominant with intellectual disability|autosomal dominant cerebellar ataxia with intellectual disability|SCA13|spinocerebellar ataxia 13 UMLS:C1854488|MESH:C537195|UMLS:C4304884|Orphanet:98768|SCTID:719209002|GARD:0009611|DOID:0050963|OMIM:605259|ICD10:G11.2 owl:Class HGNC:6235 biolink:NamedThing KCNC3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009066 biolink:NamedThing aspartate family amino acid metabolic process The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpak2llvmy_mondo_relaxed.owl aspartate family amino acid metabolism owl:Class HGNC:9208 biolink:NamedThing POR tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11764 biolink:NamedThing TG tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16472 biolink:NamedThing SLC45A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009970 biolink:NamedThing renal tubular dysgenesis of genetic origin An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl renal tubular dysgenesis with choanal atresia and athelia|renal tubular dysgenesis|genetic renal tubular dysgenesis|primitive renal tubule syndrome|renal tubular dysgenesis of genetic origin|RTD OMIM:267430|ICD10:Q63.8|Orphanet:97369 owl:Class HGNC:613 biolink:NamedThing APOE tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004108 biolink:NamedThing clivus of occipital bone Part of the cranium, the clivus is a shallow depression behind the dorsum sellC& that slopes obliquely backward. It forms a gradual sloping process at the anterior most portion of the basilar occipital bone at its junction with the sphenoid bone. On axial planes, it sits just posterior to the sphenoid sinuses. Just lateral to the clivus bilaterally is the foramen lacerum which contains the internal carotid artery, proximal to its anastamosis with the Circle of Willis. Posterior to the clivus is the basilar artery. The clivus supports the upper part of the pons. tmpak2llvmy_mondo_relaxed.owl Wackenheim's clivus line|occipital bone clivus|clivus|clivus ossis occipitalis owl:Class MONDO:0008234 biolink:NamedThing multiple endocrine neoplasia type 2A Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. tmpak2llvmy_mondo_relaxed.owl men type II|men 2A|men type 2a|multiple endocrine adenomatosis type II|MEA type II|multiple endocrine neoplasia, type II|MEA type 2a|Sipple syndrome|ptc syndrome|multiple endocrine neoplasia II|men-2A syndrome|pheochromocytoma and amyloid producing medullary thyroid carcinoma|multiple endocrine adenomatosis, type II|MEN2A|multiple endocrine adenomatosis type 2A|multiple endocrine neoplasia, type 2A|multiple endocrine adenomatosis type 2a|multiple endocrine neoplasia type II|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|multiple endocrine neoplasia type 2A|multiple endocrine neoplasia, type IIA|thyroid carcinoma, familial medullary ICD10:D44.8|DOID:0050430|UMLS:C0025268|Orphanet:247698|MESH:D018813|ICD10:E31.22|ICD9:258.02|SCTID:721188000|OMIM:171400|GARD:0004881|NCIT:C3226 https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a owl:Class HGNC:1149 biolink:NamedThing BUB1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013128 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 2 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). tmpak2llvmy_mondo_relaxed.owl REN-associated FJHN|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|FJHN type 2|early-onset hyperuricemia, Anemia, and progressive kidney failure|familial juvenile hyperuricemic nephropathy caused by mutation in REN|REN-associated kidney disease|hyperuricemic nephropathy, familial juvenile, 2|HNFJ2|ADTKD-REN|REN familial juvenile hyperuricemic nephropathy|REN-associated familial juvenile hyperuricemic nephropathy|REN-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy type 2|hyperuricemic nephropathy, familial juvenile, type 2 GARD:0013461|Orphanet:217330|MESH:C567760|SCTID:721840000|OMIM:613092 owl:Class PATO:0001297 biolink:NamedThing reflectivity A radiation reflective quality inhering in a bearer by virtue of the ratio of the energy of a wave reflected from its surface to the energy possessed by the wave striking the bearer's surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011729 biolink:NamedThing stroke, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl stroke, susceptibility to, 1|stroke, susceptibility to, type 1|Strk1 OMIM:606799 owl:Class MONDO:0013198 biolink:NamedThing dilated cardiomyopathy 1EE Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpak2llvmy_mondo_relaxed.owl CMD1EE|MYH6 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in MYH6|cardiomyopathy, dilated, 1EE|dilated cardiomyopathy type 1EE|cardiomyopathy, dilated, type 1Ee MESH:C567683|DOID:0110453|UMLS:C2750466|ICD10:I42.0|OMIM:613252 owl:Class MONDO:0012527 biolink:NamedThing cataract 11 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene. tmpak2llvmy_mondo_relaxed.owl CPP4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|early-onset non-syndromic cataract caused by mutation in PITX3|Cpp4|PITX3 early-onset non-syndromic cataract|Posterior polar cataract, 4|CTRCT11|cataract 11, multiple types|cataract, posterior polar, 4|CTPP4|posterior polar cataract 4 ICD10:Q12.0|OMIM:610623|GARD:0010228|MESH:C535344|DOID:0110249 owl:Class HGNC:9006 biolink:NamedThing PITX3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021642 biolink:NamedThing vulval varices A varicose disease that involves the mammalian vulva. tmpak2llvmy_mondo_relaxed.owl varicose disease of mammalian vulva|mammalian vulva varicose disease UMLS:C0155796|SCTID:48868008|HP:0100677|ICD10:I86.3|ICD9:456.6 owl:Class Nb10d79d400024f9aa7215b1444d04f39 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:10994 biolink:NamedThing SLC26A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011652 biolink:NamedThing Phelan-McDermid syndrome Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. tmpak2llvmy_mondo_relaxed.owl monosomy type 22q13|monosomy 22q13|22q13.3 deletion syndrome|chromosome 22Q13.3 deletion syndrome|PHELAN-McDermid syndrome|Phelan-McDermid syndrome|PHMDS|telomeric 22Q13 monosomy syndrome|deletion 22q13.3 syndrome|22q13 deletion|Phelan McDermid syndrome SCTID:699310000|DOID:0080354|ICD9:758.39|ICD10:Q93.5|OMIM:606232|UMLS:C1853490|MESH:C536801|GARD:0010130|Orphanet:48652 owl:Class HGNC:14294 biolink:NamedThing SHANK3 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000113 biolink:NamedThing 19-year-old human stage Young adult stage that refers to an adult who is under 20. tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0001108 biolink:NamedThing exposure to aflatoxin An exposure to aflatoxin. tmpak2llvmy_mondo_relaxed.owl exposure to aflatoxin owl:Class MONDO:0011415 biolink:NamedThing Leber congenital amaurosis 3 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis 3|retinitis pigmentosa, juvenile, Spata7-related|SPATA7 Leber congenital amaurosis|amaurosis congenita of Leber, type 3|Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis type 3|LCA3 ICD10:H35.5|DOID:0110331|MESH:C565814|GARD:0009661|OMIM:604232 https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3 owl:Class HGNC:20423 biolink:NamedThing SPATA7 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070192 biolink:NamedThing chromosome organization involved in meiotic cell cycle A process of chromosome organization that is involved in a meiotic cell cycle. tmpak2llvmy_mondo_relaxed.owl chromosome organisation involved in meiosis|meiotic chromosome organization owl:Class HGNC:3677 biolink:NamedThing FGF20 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:36826 biolink:NamedThing Clostridium botulinum A tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:8863443 ncbi_taxonomy owl:Class HP:0003510 biolink:NamedThing Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. tmpak2llvmy_mondo_relaxed.owl Dwarfism|Severe short stature|Proportionate dwarfism|Short stature, severe|Short stature, extreme SNOMEDCT_US:237837007|UMLS:C0013336|MSH:D004392|SNOMEDCT_US:422065006|SNOMEDCT_US:237836003 The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). HP:0008867|HP:0001516|HP:0008920|HP:0008884|HP:0001424|HP:0003504|HP:0008907|HP:0008930 human_phenotype owl:Class GO:0070126 biolink:NamedThing mitochondrial translational termination The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). tmpak2llvmy_mondo_relaxed.owl mitochondrial translation termination owl:Class HP:0001289 biolink:NamedThing Confusion Lack of clarity and coherence of thought, perception, understanding, or action. tmpak2llvmy_mondo_relaxed.owl Mental disorientation|Confusion|Easily confused|Disorientation UMLS:C0009676|SNOMEDCT_US:286933003|MSH:D003221 HP:0000731 human_phenotype owl:Class CHEBI:50908 biolink:NamedThing hepatotoxic agent A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals. tmpak2llvmy_mondo_relaxed.owl hepatotoxin|hepatotoxicant|hepatotoxicants|hepatotoxic agents|hepatoxic agent|agente hepatotoxico|hepatotoxins|hepatoxicant owl:Class UBERON:0013158 biolink:NamedThing foregut-midgut junction gland A gland that is part of a foregut-midgut junction. tmpak2llvmy_mondo_relaxed.owl gland of foregut-midgut junction owl:Class MONDO:0012141 biolink:NamedThing orofacial cleft 6, susceptibility to Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene. tmpak2llvmy_mondo_relaxed.owl IRF6 orofacial cleft|susceptibility to orofacial cleft 6|orofacial cleft caused by mutation in IRF6|OFC6|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft 6, susceptibility to OMIM:608864|DOID:0080593 owl:Class UBERON:0004288 biolink:NamedThing skeleton Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. tmpak2llvmy_mondo_relaxed.owl set of all bones|set of bones of body owl:Class MONDO:0023305 biolink:NamedThing heavy metal poisoning Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. tmpak2llvmy_mondo_relaxed.owl heavy metal toxicosis|heavy metal toxicity|chronic heavy metal poisoning|heavy metal poisoning|toxic effect of heavy metal ICD9:985.8|MESH:C535854|EFO:1001518|GARD:0006577|SCTID:85866007 https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning owl:Class HGNC:28423 biolink:NamedThing STAC3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001887 biolink:NamedThing selenium compound metabolic process The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine. tmpak2llvmy_mondo_relaxed.owl selenium metabolism|selenium metabolic process|selenium compound metabolism owl:Class GO:2000829 biolink:NamedThing negative regulation of parathyroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion. tmpak2llvmy_mondo_relaxed.owl negative regulation of parathyrin secretion|negative regulation of PTH secretion|negative regulation of parathormone secretion owl:Class MONDO:0015395 biolink:NamedThing congenital subglottic stenosis tmpak2llvmy_mondo_relaxed.owl ICD10:Q31.1|SCTID:204552001|ICD9:748.3|Orphanet:141121 owl:Class HP:0001607 biolink:NamedThing Subglottic stenosis tmpak2llvmy_mondo_relaxed.owl UMLS:C0238441|SNOMEDCT_US:22668006 human_phenotype owl:Class HGNC:21307 biolink:NamedThing DSG4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004062 biolink:NamedThing neural tube marginal layer The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter tmpak2llvmy_mondo_relaxed.owl brain marginal zone|neural tube marginal zone owl:Class MONDO:0024309 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2A A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 tmpak2llvmy_mondo_relaxed.owl HSAN 2A|neuropathy, hereditary sensory radicular, autosomal recessive|acroosteolysis, Giaccai type|neuropathy, hereditary sensory, type 2A|HSAN2A|neuropathy, congenital sensory|neuropathy, hereditary sensory and autonomic, type IIA|hereditary sensory and autonomic neuropathy type IIA|hereditary sensory and autonomic neuropathy type 2A|neuropathy, progressive sensory, of children|acroosteolysis, neurogenic|HSN 2A|Morvan disease DOID:0070155|OMIM:201300 Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125 owl:Class MONDO:0008718 biolink:NamedThing Morvan syndrome Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. tmpak2llvmy_mondo_relaxed.owl Morvan's fibrillary chorea|limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome EFO:1001897|SCTID:763803004|GARD:0009766|ICD10:G60.8|UMLS:C0751540|Orphanet:83467 owl:Class HGNC:12011 biolink:NamedThing TPM2 tmpak2llvmy_mondo_relaxed.owl owl:Class N21dc61c96d7246a58254e83df5dc64d9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018919 biolink:NamedThing McCune-Albright syndrome McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP). tmpak2llvmy_mondo_relaxed.owl McCune Albright syndrome|PFD|POFD|polyostotic fibrous dysplasia|gonadotropin-independent female-limited sexual precocity|Albright's disease|MAS SCTID:726029005|Orphanet:562|ICD10:Q78.1|UMLS:C0016065|UMLS:C0242292|DOID:1858|NCIT:C48627|GARD:0006995|OMIM:174800 owl:Class CHEBI:41609 biolink:NamedThing carbonate tmpak2llvmy_mondo_relaxed.owl Karbonat|CARBONATE ION|carbonate|trioxidocarbonate(2-)|CO3(2-)|[CO3](2-) owl:Class MONDO:0009865 biolink:NamedThing glycogen storage disease due to phosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. tmpak2llvmy_mondo_relaxed.owl GSD10|GSD type 10|GSD 10|muscle phosphoglycerate mutase deficiency|PGAM2 glycogen storage disease|glycogen storage disease type 10|PGAMM deficiency|myopathy due to Phosphoglycerate mutase deficiency|PGAM deficiency|glycogen storage disease X|glycogen storage disease 10|GSD due to phosphoglycerate mutase deficiency|glycogenosis due to phosphoglycerate mutase deficiency|GSDX|glycogen storage disease caused by mutation in PGAM2|myopathy due to phosphoglycerate mutase deficiency|Phosphoglycerate mutase, muscle, deficiency of|Phosphoglycerate mutase deficiency SCTID:61772003|GARD:0009964|NCIT:C131647|MESH:C536176|Orphanet:97234|OMIM:261670|ICD10:E74.0 owl:Class MONDO:0018109 biolink:NamedThing fulminant viral hepatitis Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. tmpak2llvmy_mondo_relaxed.owl ICD10:K72|Orphanet:35063 owl:Class MONDO:0008173 biolink:NamedThing pachyonychia congenita 1 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. tmpak2llvmy_mondo_relaxed.owl pachyonychia congenita caused by mutation in KRT16|Jadassohn-Lewandowsky syndrome|pachyonychia congenita, Jadassohn-Lewandowsky type|KRT16 pachyonychia congenita|pachyonychia congenita 1|Jadassohn-Lewandowsky syndrome, formerly|PC1|pachyonychia congenita, Jadassohn-Lewandowsky type, formerly|pachyonychia congenita type 1 OMIM:167200|SCTID:39427000 owl:Class UBERON:0005702 biolink:NamedThing optic eminence mesenchyme Mesenchyme that is part of a optic eminence. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016664 biolink:NamedThing drug-induced vasculitis A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. tmpak2llvmy_mondo_relaxed.owl drug induced vasculitis|drug induced cutaneous vasculitis Orphanet:251325|NCIT:C112204|ICD10:M31.8|UMLS:C3812646 owl:Class N1691ff90704f4b5db0dda58ad02339dc biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:6826 biolink:NamedThing MAN2B1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051970 biolink:NamedThing negative regulation of transmission of nerve impulse Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpak2llvmy_mondo_relaxed.owl negative regulation of conduction of nerve impulse|downregulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|down regulation of transmission of nerve impulse|down-regulation of transmission of nerve impulse owl:Class MONDO:0013114 biolink:NamedThing autosomal dominant nonsyndromic deafness 50 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 50|autosomal dominant deafness 50|autosomal dominant nonsyndromic deafness type 50|DFNA50|deafness, autosomal dominant type 50 ICD10:H90.3|DOID:0110576|OMIM:613074 owl:Class HGNC:31648 biolink:NamedThing MIR96 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20406 biolink:NamedThing KRT6C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008209 biolink:NamedThing Char syndrome Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. tmpak2llvmy_mondo_relaxed.owl Char syndrome|CHAR syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits|patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|CHAR|Char OMIM:169100|ICD10:Q87.8|GARD:0001237|DOID:0060563|SCTID:703534001|Orphanet:46627|ICD9:759.89|UMLS:C1868570|MESH:C566815 https://rarediseases.info.nih.gov/diseases/1237/char-syndrome owl:Class HGNC:11743 biolink:NamedThing TFAP2B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15598 biolink:NamedThing HAMP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001963 biolink:NamedThing bronchial-associated lymphoid tissue A diffuse collection of lymphpoid cells that participate in airway immune responses tmpak2llvmy_mondo_relaxed.owl bronchus associated lymphoid tissue|BALT owl:Class HGNC:11359 biolink:NamedThing STAR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014807 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 2 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene. tmpak2llvmy_mondo_relaxed.owl prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1|spinal muscular atrophy with congenital bone fractures 2|SMABF2|spinal muscular atrophy with congenital bone fractures type 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures OMIM:616867|UMLS:C4225176 owl:Class UBERON:0016885 biolink:NamedThing epithelium of terminal part of digestive tract Epithelium lining the distalmost portion of the digestive tract. tmpak2llvmy_mondo_relaxed.owl rectum epithelium owl:Class HGNC:26262 biolink:NamedThing TTI2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023691 biolink:NamedThing maple syrup urine disease type 1A A maple syrup urine disease caused by mutations in BCKDHA. tmpak2llvmy_mondo_relaxed.owl MSUD type 1A|maple syrup urine disease type 1A GARD:0008594 https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a owl:Class HGNC:986 biolink:NamedThing BCKDHA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013092 biolink:NamedThing glioma susceptibility 2 Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene. tmpak2llvmy_mondo_relaxed.owl glioma susceptibility type 2|glioma susceptibility 2|PTEN malignant glioma|malignant glioma caused by mutation in PTEN|GLM2 OMIM:613028 owl:Class N9086eaa722b84784876f7cf8071ed477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:26594 biolink:NamedThing DOK7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015269 biolink:NamedThing symmetrical thalamic calcifications Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. tmpak2llvmy_mondo_relaxed.owl bilateral symmetrical thalamic gliosis UMLS:C4304914|SCTID:719164000|ICD10:G93.8|GARD:0005070|Orphanet:1314 https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications owl:Class MONDO:0008981 biolink:NamedThing infantile choroidocerebral calcification syndrome This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. tmpak2llvmy_mondo_relaxed.owl choroid plexus calcification and intellectual disability|choroid plexus calcification with intellectual disability|choroid plexus calcification with mental retardation|choroid plexus calcification and mental retardation|Choroido-cerebral calcification syndrome with retardation MESH:C535357|Orphanet:1313|SCTID:724228005|GARD:0001313|OMIM:215480|UMLS:C1859092|ICD10:G93.8 owl:Class MONDO:0020495 biolink:NamedThing peho-like syndrome PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. tmpak2llvmy_mondo_relaxed.owl peho-like syndrome|PEHOL|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome Orphanet:99807|OMIM:617507 owl:Class HGNC:25523 biolink:NamedThing CCDC88A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17772 biolink:NamedThing TXN2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16974 biolink:NamedThing SRCAP tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1701 biolink:NamedThing CD81 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014282 biolink:NamedThing hereditary spastic paraplegia 72 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. tmpak2llvmy_mondo_relaxed.owl REEP2 pure hereditary spastic paraplegia|autosomal spastic paraplegia type 72|spastic paraplegia 72, autosomal dominant|pure hereditary spastic paraplegia caused by mutation in REEP2|SPG72|spastic paraplegia 72, autosomal recessive|hereditary spastic paraplegia type 72 ICD10:G11.4|DOID:0110817|UMLS:C3810160|OMIM:615625|Orphanet:401849 Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance owl:Class HGNC:17975 biolink:NamedThing REEP2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030990 biolink:NamedThing intraciliary transport particle A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. tmpak2llvmy_mondo_relaxed.owl intraflagellar transport complex|intraflagellar transport particle|IFT complex owl:Class MONDO:0012153 biolink:NamedThing Alzheimer disease 9 tmpak2llvmy_mondo_relaxed.owl Alzheimer disease 9|Alzheimer disease 9, susceptibility to|AD9|Alzheimer disease 9, late-onset DOID:0111364|OMIM:608907|UMLS:C1837149|MESH:C563834 owl:Class MONDO:0000499 biolink:NamedThing non-arteritic anterior ischemic optic neuropathy tmpak2llvmy_mondo_relaxed.owl nonarteritic anterior ischemic optic neuropathy|non-arteritic aion DOID:0050864|UMLS:C1852242 owl:Class GO:0072175 biolink:NamedThing epithelial tube formation The developmental process pertaining to the initial formation of an epithelial tube. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0036294 biolink:NamedThing mucosa of lip A mucosa that is part of a lip region [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl labial mucosa owl:Class HGNC:28052 biolink:NamedThing XPNPEP3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:897 biolink:NamedThing AVPR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019480 biolink:NamedThing Langerhans cell sarcoma A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl LCS|Langerhans cell sarcoma|sarcoma of Langerhans cell|malignant Langerhans cell sarcoma NCIT:C6921|DOID:7146|Orphanet:86897|ONCOTREE:LCS|SCTID:724649000|UMLS:C1260327|EFO:0007336|ICDO:9756/3|MESH:D054752|GARD:0010491|ICD10:C96.4 https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma owl:Class UBERON:0001818 biolink:NamedThing tarsal gland A modified lobulated sebaceous gland at the rim of an eyelid, responsible for the supply of meibum. tmpak2llvmy_mondo_relaxed.owl palpebral gland|gland of Meibom|tarsoconjunctival gland|Meibomian gland|glandula tarsales owl:Class CHEBI:23004 biolink:NamedThing carbamoyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. tmpak2llvmy_mondo_relaxed.owl aminocarbonyl|carbamoyl|carbamyl group|carboxamide|carbamyl|-CONH2|-C(O)NH2 owl:Class HGNC:3587 biolink:NamedThing FANCF tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:163 biolink:NamedThing ACTN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014553 biolink:NamedThing Tenorio syndrome tmpak2llvmy_mondo_relaxed.owl TENORIO syndrome|overgrowth, macrocephaly, and intellectual disability syndrome|Tenorio syndrome|TNORS OMIM:616260|UMLS:C4015710 owl:Class NCBITaxon:7162 biolink:NamedThing Ochlerotatus triseriatus tmpak2llvmy_mondo_relaxed.owl Aedes triseriatus GC_ID:1 NCBITaxon:190384 ncbi_taxonomy owl:Class MONDO:0019851 biolink:NamedThing acquired primary ovarian failure An instance of primary ovarian failure that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired primary ovarian failure|acquired premature ovarian failure SCTID:717954003|Orphanet:95709|UMLS:C4303540|ICD10:E28.8 owl:Class MONDO:0012644 biolink:NamedThing asphyxiating thoracic dystrophy 2 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. tmpak2llvmy_mondo_relaxed.owl asphyxiating thoracic dystrophy type 2|Jeune syndrome caused by mutation in IFT80|asphyxiating thoracic dystrophy 2|IFT80 Jeune syndrome|short-rib thoracic dysplasia 2 with or without polydactyly|SRTD2|ATD2 DOID:0110086|OMIM:611263|UMLS:C1970005|ICD10:Q77.2|MESH:C566982 owl:Class HGNC:29262 biolink:NamedThing IFT80 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3544 biolink:NamedThing F7 tmpak2llvmy_mondo_relaxed.owl owl:Class N475eb56018d44d6da15a5a53bbe65e48 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014195 biolink:NamedThing microcornea-myopic chorioretinal atrophy tmpak2llvmy_mondo_relaxed.owl MMCAT|microcornea, myopic chorioretinal atrophy, and telecanthus|MMCAT syndrome|microcornea-myopic chorioretinal atrophy|microcornea-myopic chorioretinal atrophy-telecanthus syndrome Orphanet:369970|ICD10:Q15.8|UMLS:C3809567|OMIM:615458 owl:Class GO:0031343 biolink:NamedThing positive regulation of cell killing Any process that activates or increases the frequency, rate or extent of cell killing. tmpak2llvmy_mondo_relaxed.owl up regulation of cell killing|up-regulation of cell killing|upregulation of cell killing|stimulation of cell killing|activation of cell killing owl:Class GO:0001906 biolink:NamedThing cell killing Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. tmpak2llvmy_mondo_relaxed.owl necrosis owl:Class MONDO:0002119 biolink:NamedThing ossifying fibroma A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. tmpak2llvmy_mondo_relaxed.owl juvenile ossifying fibroma|fibro-osteoma|cemento-ossifying fibroma|Cementifying fibroma|peripheral ossifying fibroma|fibroma, ossifying, benign|ossifying fibroma (disease)|ossifying fibroma ossifying fibroma (disease) DOID:180|NCIT:C8422|MESH:D018214|GARD:0012792|UMLS:C0206640|ICDO:9262/0|HP:0030426|EFO:0007412|ICDO:9274/0 owl:Class HGNC:11937 biolink:NamedThing CD70 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014767 biolink:NamedThing Seckel syndrome 9 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. tmpak2llvmy_mondo_relaxed.owl TRAIP Seckel syndrome|Seckel syndrome type 9|SCKL9|Seckel syndrome caused by mutation in TRAIP|Seckel syndrome 9 UMLS:C4225212|OMIM:616777|DOID:0070005 owl:Class HGNC:30764 biolink:NamedThing TRAIP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009471 biolink:NamedThing dorsum of tongue The superior surface of the tongue divided by the sulcus terminalis into an anterior two-thirds, the presulcal part (pars presulcalis). and a posterior one-third, the postsulcal part (pars postsulcalis). tmpak2llvmy_mondo_relaxed.owl dorsal tongue|dorsum linguae|tongue dorsum owl:Class MONDO:0013071 biolink:NamedThing Emery-Dreifuss muscular dystrophy 4, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|Emery-Dreifuss muscular dystrophy 4 with variable features|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant|EDMD4|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy OMIM:612998|MESH:C567831|DOID:0070249|UMLS:C2751807 owl:Class Nda7e6627900a491faafc2d1d10c85fb3 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0062125 biolink:NamedThing regulation of mitochondrial gene expression Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q24.3 biolink:NamedThing chr8q24.3 (Human) tmpak2llvmy_mondo_relaxed.owl 145138636 138900000 hg38 owl:Class MONDO:0001699 biolink:NamedThing tinea manuum A dermatophytosis that involves the hands. tmpak2llvmy_mondo_relaxed.owl dermatophytosis of manus|Tinea manus|manus dermatophytosis|dermatophytosis of hand ICD10:B35.2|SCTID:48971001|UMLS:C0153246|ICD9:110.2|DOID:13369 owl:Class MONDO:0014164 biolink:NamedThing Meckel syndrome, type 11 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpak2llvmy_mondo_relaxed.owl MKS11|Meckel syndrome, type 11|TMEM231 Meckel syndrome|Meckel syndrome caused by mutation in TMEM231 OMIM:615397|UMLS:C3809352 owl:Class HGNC:15512 biolink:NamedThing VANGL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018042 biolink:NamedThing immunodeficiency syndrome with abnormal pigmentation tmpak2llvmy_mondo_relaxed.owl immunodeficiency syndrome with hypopigmentation 2022-03-01 UMLS:CN204283|Orphanet:331249 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency disease' MONDO_0021094 owl:Class MONDO:0009239 biolink:NamedThing hypogonadotropic hypogonadism 24 without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. tmpak2llvmy_mondo_relaxed.owl follicle-stimulating hormone deficiency, isolated|isolated follicle-stimulating hormone (FSH) deficiency|isolated follicle stimulating hormone deficiency|FSHB hypogonadotropic hypogonadism|HH24|isolated follicle-stimulating hormone deficiency|isolated FSH deficiency|hypogonadotropic hypogonadism 24 without anosmia|hypogonadotropic hypogonadism caused by mutation in FSHB GARD:0010128|DOID:0090088|SCTID:758664007|OMIM:229070|UMLS:C1856716|Orphanet:52901|ICD10:E23.6|MESH:C537070 owl:Class HGNC:3964 biolink:NamedThing FSHB tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6182 biolink:NamedThing Schistosoma japonicum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:84143 biolink:NamedThing D-phenylalanine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom. tmpak2llvmy_mondo_relaxed.owl D-phenylalanine derivatives owl:Class CL:1000303 biolink:NamedThing fibroblast of areolar connective tissue A fibroblast that is part of the areolar connective tissue. tmpak2llvmy_mondo_relaxed.owl FMA:261279 cell owl:Class MONDO:0016113 biolink:NamedThing bulbospinal muscular atrophy tmpak2llvmy_mondo_relaxed.owl spinal and bulbal muscular atrophy|SBMA|spinal-bulbar muscular atrophy|bulbospinal muscular atrophy SCTID:230253001|Orphanet:206701|ICD10:G12.2 owl:Class UBERON:0006063 biolink:NamedThing cartilaginous neural arch One of the cartilaginous structures surrounding the embryonic spinal cord, formed by the dorsal growth of the dorsolateral arcualia; it is the primordium of the vertebral arch. tmpak2llvmy_mondo_relaxed.owl neural arch primordium owl:Class MONDO:0032631 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 27 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27|MC1DN27 OMIM:618248 owl:Class OBO:CHR_9606-chr20q1 biolink:NamedThing chr20q1 (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:0014821 biolink:NamedThing complex lethal osteochondrodysplasia tmpak2llvmy_mondo_relaxed.owl Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|OCLSBG|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type ICD10:Q78.8|OMIM:616897|Orphanet:457378|UMLS:C4225162 owl:Class HGNC:26887 biolink:NamedThing TAPT1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000945 biolink:NamedThing lymphocyte of B lineage A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. tmpak2llvmy_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). cell owl:Class MONDO:0010693 biolink:NamedThing nystagmus 1, congenital, X-linked Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene. tmpak2llvmy_mondo_relaxed.owl Nystagmus, infantile idiopathic|Nystagmus 1, congenital, X- linked|congenital nystagmus caused by mutation in FRMD7|Nystagmus, congenital motor, 1|NYSTAGMUS 1, congenital, X-linked|Nystagmus, infantile idiopathic, formerly|Xlpan|nystagmus 1, congenital, X-linked|FRMD7 congenital nystagmus|NYS1|Nystagmus 1, infantile, X-linked|Nystagmus, infantile periodic alternating, X-linked OMIM:310700|GARD:0002969|UMLS:C1839580 https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked owl:Class UBERON:0036291 biolink:NamedThing myocardium of anterior wall of right ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009557 biolink:NamedThing mandibuloacral dysplasia with type A lipodystrophy A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. tmpak2llvmy_mondo_relaxed.owl MADA|mandibuloacral dysplasia with type A lipodystrophy|MANDIBULOACRAL dysplasia with type A lipodystrophy|Mandibuloacral dysplasia with type a lipodystrophy, atypical|lipodystrophy, type A, associated with Mandibuloacral dysplasia|craniomandibular Dermatodysostosis MESH:C535705|UMLS:CN236772|ICD10:Q87.5|GARD:0003374|OMIM:248370|NCIT:C123417|UMLS:CN206381|SCTID:109419009|Orphanet:90153 https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy owl:Class CL:0002262 biolink:NamedThing endothelial cell of sinusoid An endothelial cell that lines any of the venous cavities through which blood passes in various glands and organs such as the spleen and liver. tmpak2llvmy_mondo_relaxed.owl FMA:63134 tmeehan 2010-09-14T10:57:26Z CL:1000403 cell owl:Class UBERON:0003326 biolink:NamedThing mesenchyme of mammary gland Mesenchyme that is part of a developing mammary gland. tmpak2llvmy_mondo_relaxed.owl lactiferous gland mesenchyme|lobe of breast mesenchyme|mammary mesenchyme|mammary gland mesenchyme|mesenchyme of lactiferous gland|mesenchyme of lobe of mammary gland|lobe of mammary gland mesenchyme|mesenchyme of lobe of breast owl:Class GO:0043264 biolink:NamedThing extracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell. tmpak2llvmy_mondo_relaxed.owl extracellular non-membrane-enclosed organelle owl:Class MONDO:0004656 biolink:NamedThing rubella A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. tmpak2llvmy_mondo_relaxed.owl Rubella virus infectious disease|Rubella virus caused disease or disorder|three day measles|german measles|Rubella virus disease or disorder|three-Day Measles|Rubella infection DOID:8781|ICD10:B06.9|UMLS:C0035920|MESH:D012409|EFO:1002026|GARD:0004742|NCIT:C85051|ICD9:056|ICD10:B06|SCTID:36653000 https://rarediseases.info.nih.gov/diseases/4742/rubella owl:Class UBERON:0001586 biolink:NamedThing internal jugular vein One of two jugular veins that collect the blood from the brain, the superficial parts of the face, and the neck. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl vena jugularis interna|internal jugular venous tree|internal jugular owl:Class UBERON:0015041 biolink:NamedThing pedal digit 5 metatarsal endochondral element A pedal digit 5 metatarsal bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit 5 metatarsal element|pedal digit V metatarsal endochondral element|pedal digit 5 metatarsal skeletal element owl:Class MONDO:0011229 biolink:NamedThing ethylmalonic encephalopathy Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. tmpak2llvmy_mondo_relaxed.owl eme|EPEMA syndrome|encephalopathy, ethylmalonic|encephalopathy, petechiae, and ethylmalonic aciduria|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|EE ICD10:G31.8|OMIM:602473|GARD:0002198|UMLS:C1865349|SCTID:723307008|MESH:C535737|Orphanet:51188|DOID:0060640 https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy owl:Class HGNC:23287 biolink:NamedThing ETHE1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030216 biolink:NamedThing keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. tmpak2llvmy_mondo_relaxed.owl keratinocyte cell differentiation owl:Class MONDO:0024494 biolink:NamedThing tumor grade 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. tmpak2llvmy_mondo_relaxed.owl high grade|grade 4|grade IV|undifferentiated|G4 NCIT:C28082 owl:Class CL:0000955 biolink:NamedThing pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. tmpak2llvmy_mondo_relaxed.owl pre-B-lymphocyte|pre-BII cell BTO:0001133|CALOHA:TS-0819 pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. cell owl:Class GO:0071707 biolink:NamedThing immunoglobulin heavy chain V-D-J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpak2llvmy_mondo_relaxed.owl immunoglobulin V-D-J joining|immunoglobulin V(D)J recombination|immunoglobulin V(D)J joining owl:Class MONDO:0013248 biolink:NamedThing Fanconi anemia complementation group O Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type O|Fanconi Anemia, complementation group type O|Fanconi anemia caused by mutation in RAD51C|Fanconi anemia, complementation group O|Fanconi anemia caused by mutation in Rad51C|FANCO|RAD51C Fanconi anemia|Rad51C Fanconi anemia UMLS:C3150653|DOID:0111096|OMIM:613390 owl:Class NCBITaxon:41013 biolink:NamedThing Tinea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:85708 biolink:NamedThing Porcine circovirus 2 tmpak2llvmy_mondo_relaxed.owl PCV2|Porcine circovirus Type II|Porcine circovirus type 2|Porcine circovirus-2 GC_ID:1 ncbi_taxonomy owl:Class PATO:0001575 biolink:NamedThing decreased pressure A pressure which is relatively low. tmpak2llvmy_mondo_relaxed.owl low pressure owl:Class HGNC:4204 biolink:NamedThing GCNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class Nd2a9fe90a0084830b23a438eda772155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0006570 biolink:NamedThing tyrosine metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpak2llvmy_mondo_relaxed.owl tyrosine metabolism owl:Class N9932902111d34d99a03d00625b37c15f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:19743 biolink:NamedThing POMT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008603 biolink:NamedThing trigonocephaly 1 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. tmpak2llvmy_mondo_relaxed.owl trigonocephaly 1|TRIGNO1|craniosynostosis, metopic|FGFR1 isolated trigonocephaly|trigonocephaly type 1|isolated trigonocephaly caused by mutation in FGFR1 OMIM:190440 owl:Class MONDO:0014393 biolink:NamedThing lymphatic malformation 4 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. tmpak2llvmy_mondo_relaxed.owl LMPH1D|lymphedema, hereditary, type 1D|lymphedema, hereditary, 1D|hereditary lymphedema caused by mutation in VEGFC|VEGFC hereditary lymphedema DOID:0070209|UMLS:C4014628|OMIM:615907 owl:Class HGNC:12682 biolink:NamedThing VEGFC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015001 biolink:NamedThing radius endochondral element The major preaxial endrochondral skeletal element in the anterior zeugopod. tmpak2llvmy_mondo_relaxed.owl radius skeletal element|radius element owl:Class UBERON:0004533 biolink:NamedThing left testis A testis that is in the left side of the genitalia [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left testicle owl:Class HP:0001762 biolink:NamedThing Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. tmpak2llvmy_mondo_relaxed.owl Pes equinovarus|Club foot|Foot, talipes equinovarus|Clubbing of feet|Equinovarus|Club feet|Pes equinus|Clubfoot|Talipes varus|Clubfeet SNOMEDCT_US:397932003|MEDDRA:10043106|SNOMEDCT_US:249808002|Fyler:4171|MSH:D003025|UMLS:C0009081 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. human_phenotype owl:Class MONDO:0010730 biolink:NamedThing combined immunodeficiency, X-linked tmpak2llvmy_mondo_relaxed.owl CIDX|combined immunodeficiency, X-linked|Xcid|immunodeficiency 6 OMIM:312863 owl:Class CL:0002521 biolink:NamedThing subcutaneous fat cell A fat cell that is part of subcutaneous adipose tissue. tmpak2llvmy_mondo_relaxed.owl subcutaneous adipocyte tmeehan 2011-02-21T02:51:22Z cell owl:Class MONDO:0019107 biolink:NamedThing Rh deficiency syndrome The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl Rh-null hemolytic Anemia, regulator type|Rh-null syndrome|Rh deficiency syndrome|Rh-null disease, regulator type|RHN|RHNR|Rh-Mod|Rh-null disease|RH-null, regulator type Orphanet:71275|UMLS:C1849387|UMLS:C0272052|DOID:0050641|GARD:0012916|ICD10:D58.8|SCTID:37272000|OMIM:268150 https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome owl:Class HGNC:10006 biolink:NamedThing RHAG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014370 biolink:NamedThing pontocerebellar hypoplasia type 2E Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53|pontocerebellar hypoplasia, type 2E|pontocerebellar hypoplasia type 2E|PCH2E|VPS53 non-syndromic pontocerebellar hypoplasia OMIM:615851|UMLS:C4014488|DOID:0060271 owl:Class MONDO:0011272 biolink:NamedThing retinitis pigmentosa 25 Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 25|RP 25|RP25|retinitis pigmentosa type 25|EYS retinitis pigmentosa|retinitis pigmentosa caused by mutation in EYS ICD10:H35.5|UMLS:C1864446|MESH:C566425|OMIM:602772|GARD:0010384|DOID:0110384 https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25 owl:Class MONDO:0013807 biolink:NamedThing congenital stationary night blindness 1E Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness type 1E|congenital stationary night blindness 1E|GPR179 congenital stationary night blindness|congenital stationary night blindness caused by mutation in GPR179|Csnb, complete, autosomal recessive|CSNB1E|night blindness, congenital stationary, type 1E|congenital stationary night blindness 1E autosomal recessive DOID:0110869|UMLS:C3281215|OMIM:614565 owl:Class HGNC:24039 biolink:NamedThing CLMP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021418 biolink:NamedThing polyp of ethmoidal sinus A polyp that involves the ethmoid sinus. tmpak2llvmy_mondo_relaxed.owl polyp of the ethmoidal sinus|polyp of ethmoid sinus|ethmoid sinus polyp|polyp of the ethmoid sinus|ethmoidal sinus polyp|ethmoidal polyp SCTID:23966000|ICD9:471.8|NCIT:C3932|UMLS:C0264248 owl:Class CL:3000000 biolink:NamedThing ciliated epithelial cell of esophagus A ciliated epithelial cell of the esophagus. tmpak2llvmy_mondo_relaxed.owl CellBLAST 2019-02-09T16:40:30Z cell owl:Class MONDO:0003343 biolink:NamedThing retinal hemangioblastoma A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. tmpak2llvmy_mondo_relaxed.owl retinal hemangioblastoma|vasculature of retina hemangioblastoma|retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina DOID:5240|NCIT:C39783|UMLS:C1514915 owl:Class MONDO:0007110 biolink:NamedThing Diamond-Blackfan anemia 1 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia 1|DBA|Blackfan-Diamond syndrome|anemia, congenital erythroid hypoplastic|Aase-Smith syndrome 2|RPS19 Diamond-Blackfan anemia|Red cell aplasia, Pure, hereditary|Diamond-Blackfan anemia caused by mutation in RPS19|Aase syndrome|Diamond-Blackfan Anemia type 1|DBA1|anemia, congenital hypoplastic, of Blackfan and Diamond|erythrogenesis imperfecta|aregenerative Anemia, chronic congenital UMLS:C2676137|OMIM:105650 owl:Class Nacabc52cfb834f1eb526bd73409113f8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014851 biolink:NamedThing hypercalcemia, infantile 2 Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. tmpak2llvmy_mondo_relaxed.owl HCINF2|SLC34A1 autosomal recessive infantile hypercalcemia|hypercalcemia, infantile, 2|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1|hypercalcemia, infantile, type 2|hypercalcemia, infantile 2 UMLS:CN847585|OMIM:616963|UMLS:C4310473|UMLS:CN774236|UMLS:CN262351 owl:Class MONDO:0014272 biolink:NamedThing palmoplantar keratoderma, Nagashima type Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, Nagashima type|PPK, Nagashima type|PPKN|palmoplantar hyperkeratosis, Nagashima type UMLS:C3810072|SCTID:722205008|Orphanet:140966|ICD10:Q82.8|OMIM:615598 owl:Class MONDO:0012403 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl SLEB7|systemic lupus erythematosus, susceptibility to, 7 OMIM:610065 owl:Class UBERON:0005034 biolink:NamedThing mucosa of right main bronchus A mucosa that is part of a right main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of organ of right bronchus|right principal bronchus organ mucosa|mucosa of organ of right main bronchus|right bronchus mucosa of organ|right principal bronchus mucosa|mucosa of organ of right principal bronchus|right main bronchus mucosa|mucosa of right bronchus|right main bronchus organ mucosa|right main bronchial mucosa|organ mucosa of right bronchus|right bronchus mucous membrane|right principal bronchus mucosa of organ|organ mucosa of right main bronchus|mucous membrane of right bronchus|right principal bronchus mucous membrane|right main bronchus mucosa of organ|right bronchus organ mucosa|mucous membrane of right main bronchus|right main bronchus mucous membrane|mucosa of right principal bronchus|organ mucosa of right principal bronchus|mucous membrane of right principal bronchus|right bronchus mucosa owl:Class MONDO:0018774 biolink:NamedThing erythrokeratodermia-cardiomyopathy syndrome A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. tmpak2llvmy_mondo_relaxed.owl EKC syndrome Orphanet:476096|UMLS:CN776912 https://github.com/monarch-initiative/mondo/issues/324 owl:Class ENVO:01000739 biolink:NamedThing habitat An environmental system which can sustain and allow the growth of an ecological population. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010891 biolink:NamedThing negative regulation of sequestering of triglyceride Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpak2llvmy_mondo_relaxed.owl negative regulation of triglyceride sequestration|negative regulation of sequestering of triacylglycerol owl:Class MONDO:0004053 biolink:NamedThing bartholin gland squamous cell carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl bartholin gland squamous cell carcinoma|Bartholin's gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma NCIT:C40293|DOID:6961|EFO:1000104|UMLS:C1511052 owl:Class HGNC:14966 biolink:NamedThing PXDN tmpak2llvmy_mondo_relaxed.owl owl:Class N0a58a957f09444e7955ef16a1b96daa9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:22140 biolink:NamedThing FAM20C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033925 biolink:NamedThing pediatric-onset Graves disease tmpak2llvmy_mondo_relaxed.owl Orphanet:525731 owl:Class MONDO:0010775 biolink:NamedThing retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. tmpak2llvmy_mondo_relaxed.owl RP8, formerly|retinitis pigmentosa 8|retinitis pigmentosa 21, formerly|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 21|retinitis pigmentosa 8, formerly|RP21, formerly OMIM:500004|GARD:0004684|ICD10:H35.5|DOID:0110829|SCTID:57838006|UMLS:CN033130 Editor note: check relationship to Usher 3 from ORDO owl:Class ENVO:02000091 biolink:NamedThing coal A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013249 biolink:NamedThing autosomal recessive nonsyndromic deafness 84A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 84|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive 84A, with vestibular dysfunction|deafness, autosomal recessive 84A|autosomal recessive nonsyndromic deafness 84A|PTPRQ autosomal recessive nonsyndromic deafness|DFNB84A|autosomal recessive nonsyndromic deafness type 84A|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A UMLS:C3150654|ICD10:H90.3|DOID:0110529|OMIM:613391 owl:Class HGNC:9679 biolink:NamedThing PTPRQ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014147 biolink:NamedThing neuronal ceroid lipofuscinosis 13 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. tmpak2llvmy_mondo_relaxed.owl neuronal ceroid lipofuscinosis type 13|CLN13|ceroid lipofuscinosis, neuronal, 13, Kufs type|neuronal ceroid lipofuscinosis caused by mutation in CTSF|CTSF neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 13|ceroid lipofuscinosis, neuronal, 13|CLN13 disease|neuronal ceroid lipofuscinosis 13 Kufs type UMLS:C3715049|ICD10:E75.4|OMIM:615362|Orphanet:352709|DOID:0110727 owl:Class HGNC:2531 biolink:NamedThing CTSF tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18829 biolink:NamedThing KLHL10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009159 biolink:NamedThing Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. tmpak2llvmy_mondo_relaxed.owl Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac-valvular EDS|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, CARDIAC valvular type|Cardiac-valvular Ehlers-Danlos syndrome|EDS, cardiac valvular type|cvEDS|Ehlers-Danlos syndrome, arthrochalasis type|EDSCV SCTID:720858001|ICD10:Q79.6|MESH:C536200|Orphanet:230851|OMIM:225320|GARD:0012613 owl:Class MONDO:0013573 biolink:NamedThing cranioectodermal dysplasia 3 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. tmpak2llvmy_mondo_relaxed.owl CED3|cranioectodermal dysplasia 3|CRANIOECTODERMAL dysplasia 3|cranioectodermal dysplasia caused by mutation in IFT43|Cranioectodermal dysplasia type 3|IFT43 cranioectodermal dysplasia UMLS:C3279807|OMIM:614099 owl:Class HGNC:29669 biolink:NamedThing IFT43 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014846 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive 23|spinocerebellar ataxia autosomal recessive type 23|SCAR23 UMLS:C4310780|DOID:0111613|Orphanet:404493|ICD10:G11.1|OMIM:616949 owl:Class CL:0000908 biolink:NamedThing CD8-positive, alpha-beta cytokine secreting effector T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines. tmpak2llvmy_mondo_relaxed.owl CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-cell cell owl:Class HGNC:6814 biolink:NamedThing MAGEL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021546 biolink:NamedThing ependymal tumor of spinal cord An ependymal tumor that arises from the spinal cord. tmpak2llvmy_mondo_relaxed.owl ependymal tumor of spinal cord|spinal cord ependymal tumor UMLS:C4318747|NCIT:C131526 owl:Class MONDO:0010452 biolink:NamedThing intellectual disability, X-linked 90 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|MRX90|intellectual disability, X-linked type 90|DLG3 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 90|mental retardation, X-linked 90 OMIM:300850|UMLS:C3275443 owl:Class MONDO:0002572 biolink:NamedThing aspiration pneumonitis Inflammation of the lungs due to the inhalation of solid or liquid material. tmpak2llvmy_mondo_relaxed.owl aspiration pneumonia|chemical pneumonitis NCIT:C34932|DOID:3240|UMLS:C1761609|SCTID:155597006|ICD10:J69.0 owl:Class UBERON:0001196 biolink:NamedThing middle colic artery The middle colic artery is a branch of the superior mesenteric artery that mostly supplies the transverse colon. It arises just below the pancreas, and, passing downward and forward between the layers of the transverse mesocolon, divides into two branches: right and left. The right branch anastomoses with the right colic artery The left branch anastomoses with the left colic artery, a branch of the inferior mesenteric artery. The arches thus formed are placed about two fingers' breadth from the transverse colon, to which they distribute branches. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria colica media owl:Class ENVO:01001680 biolink:NamedThing gaseous front A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014108 biolink:NamedThing Fanconi anemia complementation group Q Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. tmpak2llvmy_mondo_relaxed.owl Fanconi Anemia, complementation group type Q|ERCC4 Fanconi anemia|Fanconi anemia complementation group type Q|Fanconi anemia, complementation group Q|FANCQ|Fanconi anemia caused by mutation in ERCC4 UMLS:C3808988|DOID:0111093|OMIM:615272 owl:Class HGNC:3436 biolink:NamedThing ERCC4 tmpak2llvmy_mondo_relaxed.owl owl:Class N127ad544002a4e38906fccd513df41ca biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005614 biolink:NamedThing pancreatic adenosquamous carcinoma A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl adenosquamous carcinoma of the pancreas|pancreatic adenoacanthoma|pancreatic adenosquamous cancer|pancreas adenosquamous carcinoma|PAASC|adenosquamous carcinoma of pancreas|pancreatic adenosquamous carcinoma|pancreatic mucoepidermoid carcinoma|pancreatic mixed squamous and adenocarcinoma|adenosquamous pancreas carcinoma DOID:5637|ONCOTREE:PAASC|EFO:0006732|NCIT:C5721|UMLS:C1335299 owl:Class MONDO:0011702 biolink:NamedThing dilated cardiomyopathy 1L Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1L|cardiomyopathy, dilated, type 1L|familial isolated dilated cardiomyopathy caused by mutation in SGCD|cardiomyopathy, dilated, 1L|CMD1L|SGCD familial isolated dilated cardiomyopathy MESH:C564679|DOID:0110436|OMIM:606685|UMLS:C1847667|ICD10:I42.0 owl:Class HGNC:10807 biolink:NamedThing SGCD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008588 biolink:NamedThing hereditary geniospasm Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip. tmpak2llvmy_mondo_relaxed.owl hereditary chin myoclonus|hereditary chin tremor/myoclonus|geniospasm|GSM 1|trembling Chin|familial trembling of the chin|geniospasm 1|hereditary chin-trembling|GSM1 ICD10:G25.3|GARD:0009501|MESH:C537682|SCTID:718103001|Orphanet:53372|UMLS:C2931589|OMIM:190100 https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm owl:Class MONDO:0014872 biolink:NamedThing congenital stationary night blindness 1H Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene. tmpak2llvmy_mondo_relaxed.owl night blindness, congenital stationary, type 1H|CSNB1H|GNB3 congenital stationary night blindness|congenital stationary night blindness caused by mutation in GNB3|congenital stationary night blindness type 1H OMIM:617024|UMLS:C4310758|DOID:0110866 owl:Class HGNC:4400 biolink:NamedThing GNB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011936 biolink:NamedThing microphthalmia with brain and digit anomalies Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. tmpak2llvmy_mondo_relaxed.owl anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|syndromic microphthalmia type 6|microphthalmia, syndromic type 6|microphthalmia and pituitary anomalies|MCOPS6|microphthalmia with brain and digit developmental anomalies|microphthalmia with brain and digit anomalies|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia|microphthalmia, syndromic 6|microphthalmia syndromic 6|Bakrania-Ragge syndrome GARD:0003645|MESH:C566440|Orphanet:139471|UMLS:C1864689|OMIM:607932|UMLS:C4303070|ICD10:Q11.2|SCTID:721878003 owl:Class UBERON:0001799 biolink:NamedThing vitreous chamber of eyeball The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. tmpak2llvmy_mondo_relaxed.owl camera vitrea bulbi|postremal chamber of eyeball|vitreous chamber|postremal chamber|camera postrema bulbi oculi|camera vitrea|camera postrema owl:Class PO:0030109 biolink:NamedThing hesperidium fruit A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618). tmpak2llvmy_mondo_relaxed.owl citrus fruit (exact)|hesperidium (exact)|hesperide (exact, German)|panzerbeere (broad, German)|indehiscent fruit (broad)|hesperidio (exact, Spanish) PO_GIT:652 A hesperidium fruit (PO:0030109) develops from a superior gynoecium (PO:0009062), and therefore is not surrounded by receptacle (PO:0009064) tissue. Examples: orange, grapefruit, lemon, and lime (Citrus spp.). plant_anatomy owl:Class MONDO:0008393 biolink:NamedThing Rubinstein-Taybi syndrome due to CREBBP mutations Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. tmpak2llvmy_mondo_relaxed.owl Rubinstein-Taybi syndrome type 1|broad thumbs and great toes, characteristic facies, and mental retardation|Rubinstein-Taybi syndrome caused by mutation in CREBBP|RSTS1|Rubinstein-Taybi syndrome 1|broad thumb-hallux syndrome|broad thumbs and great toes, characteristic facies, and intellectual disability|Rubinstein syndrome|RSTS|Rubinstein-Taybi syndrome due to CREBBP mutations|CREBBP Rubinstein-Taybi syndrome ICD10:Q87.2|NCIT:C153290|OMIM:180849|Orphanet:353277 owl:Class HGNC:2348 biolink:NamedThing CREBBP tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002615 biolink:NamedThing adipocyte of omentum tissue A fat cell that is part of omentum tissue. tmpak2llvmy_mondo_relaxed.owl omental fat cell|omental adipocyte tmeehan 2011-03-14T10:17:00Z cell owl:Class UBERON:0004415 biolink:NamedThing proximal epiphysis of metatarsal bone A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl base of metatarsal bone|upper end of metatarsal bone|proximal end of metatarsal bone|basis ossis metatarsi owl:Class MONDO:0019784 biolink:NamedThing 12q14 microdeletion syndrome 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. tmpak2llvmy_mondo_relaxed.owl Del(12)(q14)|osteopoikilosis-short stature-intellectual disability syndrome|deletion 12q14|monosomy 12q14 ICD10:Q93.5|GARD:0013390|UMLS:CN206727|UMLS:C4305140|Orphanet:94063|SCTID:719046005 https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome owl:Class MONDO:0014153 biolink:NamedThing cone-rod dystrophy 18 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene. tmpak2llvmy_mondo_relaxed.owl RAB28 cone-rod dystrophy|CORD18|cone-rod dystrophy 18|cone-rod dystrophy type 18|cone-rod dystrophy caused by mutation in RAB28 UMLS:C3809299|OMIM:615374|DOID:0111024 owl:Class HGNC:9768 biolink:NamedThing RAB28 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021472 biolink:NamedThing benign neoplasm of scrotum A benign neoplasm that involves the scrotum. tmpak2llvmy_mondo_relaxed.owl benign tumor of the scrotum|benign tumor of scrotum|scrotum benign neoplasm|benign scrotal neoplasm|benign neoplasm of the scrotum|benign scrotal tumor ICD9:222.4|UMLS:C0154011|ICD10:D29.4|NCIT:C3615|SCTID:92336000 owl:Class MONDO:0014539 biolink:NamedThing focal segmental glomerulosclerosis 9 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. tmpak2llvmy_mondo_relaxed.owl focal segmental glomerulosclerosis caused by mutation in CRB2|glomerulosclerosis, focal segmental, 9|FSGS9|focal segmental glomerulosclerosis type 9|focal segmental glomerulosclerosis 9|CRB2 focal segmental glomerulosclerosis ICD10:N04.1|OMIM:616220|DOID:0111134|UMLS:C4015555 owl:Class HGNC:18688 biolink:NamedThing CRB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19309 biolink:NamedThing KANK1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013238 biolink:NamedThing future glans tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000354 biolink:NamedThing blastemal cell tmpak2llvmy_mondo_relaxed.owl blastema cell ncithesaurus:Blastemal_Cell cell owl:Class CHEBI:78608 biolink:NamedThing alpha-amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl an alpha-amino acid owl:Class MONDO:0002576 biolink:NamedThing embryonal extrahepatic bile duct rhabdomyosarcoma An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl embryonal extrahepatic bile duct rhabdomyosarcoma|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal rhabdomyosarcoma of the extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct embryonal rhabdomyosarcoma|extrahepatic bile duct embryonal rhabdomyosarcoma (disease) NCIT:C5847|UMLS:C1333505|DOID:3253 owl:Class UBERON:0007280 biolink:NamedThing presumptive endocardium A presumptive structure that has the potential to develop into a endocardium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017649 biolink:NamedThing hemidystonia-hemiatrophy syndrome Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. tmpak2llvmy_mondo_relaxed.owl HD-HA syndrome UMLS:CN203542|Orphanet:306741 owl:Class MONDO:0043195 biolink:NamedThing rubinstein taybi like syndrome tmpak2llvmy_mondo_relaxed.owl Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses GARD:0004745|UMLS:C2931052|MESH:C535877 owl:Class HP:0001880 biolink:NamedThing Eosinophilia Increased count of eosinophils in the blood. tmpak2llvmy_mondo_relaxed.owl High blood eosinophil count MSH:D004802|UMLS:C0014457 human_phenotype owl:Class MONDO:0013358 biolink:NamedThing Seckel syndrome 4 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. tmpak2llvmy_mondo_relaxed.owl SCKL4|CENPJ Seckel syndrome|Seckel syndrome caused by mutation in CENPJ|Seckel syndrome type 4|Seckel syndrome 4 OMIM:613676|DOID:0070010|UMLS:C3888212 owl:Class UBERON:0007722 biolink:NamedThing interphalangeal joint of manus The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes. tmpak2llvmy_mondo_relaxed.owl interphalangeal joint of hand|interphalangeal articulations of hand|articulations of the digits|interphalangeal joints of hand|IP joint|articulationes interphalangeae manus|articulationes digitorum manus|interphalangeal joint of finger owl:Class HGNC:409 biolink:NamedThing ALDH1A3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005749 biolink:NamedThing glomerular tuft The capillary loops of the kidney that normally function as a filtration unit[MP]. tmpak2llvmy_mondo_relaxed.owl glomerulus|glomerular capillary tuft owl:Class GO:0010828 biolink:NamedThing positive regulation of glucose transmembrane transport Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl positive regulation of glucose transport owl:Class CL:1000714 biolink:NamedThing kidney cortex collecting duct principal cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001130 cell owl:Class MONDO:0013680 biolink:NamedThing cognitive impairment with or without cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl CIAT|cognitive impairment with or without cerebellar ataxia OMIM:614306|UMLS:C3280415 owl:Class HGNC:18122 biolink:NamedThing SOX17 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03400172 biolink:NamedThing prepared food product (us cfr) Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0172 prepared dish http://langual.org owl:Class UBERON:0010424 biolink:NamedThing distal segment of rib tmpak2llvmy_mondo_relaxed.owl distal rib segment|sternal rib|vertical segment of rib|distal rib|distal part of rib owl:Class MONDO:0012835 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 11 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus (disease) caused by mutation in STAT4|susceptibility to systemic lupus erythematosus 11|STAT4 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 11|systemic lupus erythematosus, susceptibility to, 11|SLEB11 OMIM:612253 owl:Class HGNC:11365 biolink:NamedThing STAT4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013702 biolink:NamedThing intellectual disability, autosomal recessive 27 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. tmpak2llvmy_mondo_relaxed.owl MRT27|LINS1 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1|intellectual disability, autosomal recessive type 27|mental retardation, autosomal recessive 27|mental retardation, autosomal recessive type 27 UMLS:C3280538|OMIM:614340 owl:Class HGNC:30922 biolink:NamedThing LINS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007601 biolink:NamedThing ciliated epithelium Epithelium bearing vibratile cilia on the free surface. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007850 biolink:NamedThing autosomal dominant keratitis-ichthyosis-deafness syndrome Autosomal dominant form of KID syndrome. tmpak2llvmy_mondo_relaxed.owl KID syndrome, autosomal dominant|keratitis-ichthyosis-deafness syndrome, autosomal dominant|autosomal dominant KID syndrome|Kid syndrome, autosomal dominant OMIM:148210|DOID:0060871|ICD10:Q80.8 owl:Class UBERON:0003292 biolink:NamedThing meninx of spinal cord A meninx that is part of a spinal cord [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl menines of spinal cord|spinal cord meninges|spinal meninges|spinal meninx|meninges of spinal cord|spinal cord meninx owl:Class HGNC:9460 biolink:NamedThing PROZ tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011366 biolink:NamedThing cleidobrachialis muscle This muscle makes up the distal segment of the brachiocephalicus. It originates at the clavicular tendon but functionally, from the head and neck through the cleidocervicalis. It inserts at the distal end of the cranial border of the humerus, where it lies between the biceps brachii medially and the brachialis laterally. The muscle partly covers the pectoral muscles at their insertions. In conjunction with the cleidocervicalis, it advances the limb, extends the shoulder and causes lateral movement of the head and neck. tmpak2llvmy_mondo_relaxed.owl cleidobrachial muscle|cleidobrachialis|cleidobrachial owl:Class UBERON:0010231 biolink:NamedThing anatomical line between outer ears tmpak2llvmy_mondo_relaxed.owl inter-otic line|inter-pinna line|otic line owl:Class UBERON:0006617 biolink:NamedThing left external ear An external ear that is in the left side of a multicellular organism. tmpak2llvmy_mondo_relaxed.owl left auricular region owl:Class UBERON:1000004 biolink:NamedThing collection of hair on external ear A collection of hairs that grows on the external ear. tmpak2llvmy_mondo_relaxed.owl external ear hair owl:Class MONDO:0700069 biolink:NamedThing myopathy caused by varation in POMGNT2 Any myopathy in which the cause of the disease is a varation in the POMGNT2 gene. tmpak2llvmy_mondo_relaxed.owl POMGNT2-related myopathy|myopathy caused by mutation in POMGNT2|POMGNT2 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0014095 biolink:NamedThing dilated cardiomyopathy 1JJ Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene. tmpak2llvmy_mondo_relaxed.owl CMD1JJ|LAMA4 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|cardiomyopathy, dilated, 1JJ|dilated cardiomyopathy type 1JJ|cardiomyopathy, dilated, type 1Jj DOID:0110438|UMLS:C3808935|OMIM:615235|ICD10:I42.0 owl:Class HGNC:6484 biolink:NamedThing LAMA4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29420 biolink:NamedThing RSPRY1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000163 biolink:NamedThing embryonic cloaca endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. tmpak2llvmy_mondo_relaxed.owl cloaca owl:Class MONDO:0012256 biolink:NamedThing hereditary spastic paraplegia 28 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 28|spastic paraplegia 28, autosomal recessive|hereditary spastic paraplegia 28|DDHD1 autosomal recessive pure spastic paraplegia|SPG28|hereditary spastic paraplegia type 28|autosomal recessive spastic paraplegia type 28|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1 SCTID:763376002|Orphanet:101008|ICD10:G11.4|UMLS:C1836295|MESH:C563732|OMIM:609340|DOID:0110779 owl:Class MONDO:0007543 biolink:NamedThing enolase, sperm specific tmpak2llvmy_mondo_relaxed.owl ENO4|enolase, sperm specific OMIM:131375 owl:Class HGNC:31670 biolink:NamedThing ENO4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18626 biolink:NamedThing IFT27 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33253 biolink:NamedThing nucleon Heavy nuclear particle: proton or neutron. tmpak2llvmy_mondo_relaxed.owl Nukleon|nucleon|nucleons|Nukleonen owl:Class NCBITaxon:5811 biolink:NamedThing Toxoplasma gondii tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014017 biolink:NamedThing autism, susceptibility to, 18 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, type 18|AUTS18|autism, susceptibility to, 18|susceptibility to autism 18 OMIM:615032 owl:Class HGNC:20153 biolink:NamedThing CHD8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008764 biolink:NamedThing Leber congenital amaurosis 1 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl amaurosis congenita of Leber, type 1|Leber congenital amaurosis 1|Leber congenital amaurosis caused by mutation in GUCY2D|Leber congenital amaurosis type 1|CRB|GUCY2D Leber congenital amaurosis|LCA1|amaurosis congenita of Leber I|retinal blindness, congenital|amaurosis congenita of Leber 1|LCA DOID:0110078|OMIM:204000|GARD:0000635|ICD10:H35.5 owl:Class MONDO:0024500 biolink:NamedThing duodenal neuroendocrine neoplasm A neuroendocrine neoplasm that involves the duodenum. tmpak2llvmy_mondo_relaxed.owl duodenum neuroendocrine neoplasm|neuroendocrine neoplasm of duodenum|duodenum neuroendocrine tumor|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|duodenum NET owl:Class MONDO:0012792 biolink:NamedThing mitochondrial DNA depletion syndrome 8a Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial DNA depletion syndrome caused by mutation in RRM2B|MTDPS8A|RRM2B-related mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 8B (Mngie type)|RRM2B mitochondrial DNA depletion syndrome|Mngie, Rrm2B-related|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome type 8a|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive SCTID:765100000|GARD:0013200|ICD10:G31.8|Orphanet:255235|OMIM:612075|DOID:0080127 owl:Class HP:0000777 biolink:NamedThing Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. tmpak2llvmy_mondo_relaxed.owl Abnormality of the thymus SNOMEDCT_US:93297002|UMLS:C0685891|UMLS:C0262650 human_phenotype owl:Class UBERON:0001641 biolink:NamedThing transverse sinus one of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb. tmpak2llvmy_mondo_relaxed.owl lateral sinus|sinus transversus|transverse sinus vein|groove for right and left transverse sinuses|transverse sinus|sinus transversus durae matris owl:Class NCBITaxon:12939 biolink:NamedThing Anemia tmpak2llvmy_mondo_relaxed.owl Mohria|Anemia, the fern with tired blood GC_ID:1 NCBITaxon:148571 ncbi_taxonomy owl:Class HGNC:1389 biolink:NamedThing CACNA1B tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005938 biolink:NamedThing cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpak2llvmy_mondo_relaxed.owl peripheral cytoplasm|cell periphery owl:Class MONDO:0011032 biolink:NamedThing autosomal dominant nonsyndromic deafness 11 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpak2llvmy_mondo_relaxed.owl DFNA11|autosomal dominant deafness 11|deafness, autosomal dominant 11|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness type 11|MYO7A autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A OMIM:601317|MESH:C563353|DOID:0110543|UMLS:C1832475|ICD10:H90.3 owl:Class N47eff72c6c5e455b8761985a8228ba22 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002096 biolink:NamedThing malignant conjunctival melanoma A malignant melanoma within the conjunctiva of the eye. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of conjunctiva|CM|conjunctival melanoma|conjunctiva melanoma|conjunctiva melanoma (disease)|melanoma of the conjunctiva|malignant conjunctival melanoma|melanoma of conjunctiva|melanoma (disease) of conjunctiva|malignant conjunctiva melanoma|malignant melanoma of the conjunctiva DOID:1751|GARD:0010744|SCTID:255004001|UMLS:C0346360|EFO:1000204|ONCOTREE:CM|NCIT:C4550 owl:Class HGNC:7585 biolink:NamedThing MYL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004468 biolink:NamedThing anal canal Paget disease Paget disease involving the squamous epithelium of the anal canal. tmpak2llvmy_mondo_relaxed.owl Paget's disease of the anal canal|anal canal Paget disease|anal canal Paget's disease|Paget's disease of anal canal|Paget disease of the anal canal|anal canal mammary Paget's disease DOID:8119|UMLS:C1332261|NCIT:C7477|SCTID:236811000119101 owl:Class UBERON:0002806 biolink:NamedThing left occipital lobe An occipital lobe that is part of a left cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016276 biolink:NamedThing high-grade neuroendocrine carcinoma of the cervix uteri High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. tmpak2llvmy_mondo_relaxed.owl poorly differentiated neuroendocrine cervical carcinoma|high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine carcinoma of the cervix uteri ICD10:C53.0|Orphanet:213777|ICD10:C53.8|UMLS:CN201066|ICD10:C53.1 owl:Class NCBITaxon:5600 biolink:NamedThing Phialophora tmpak2llvmy_mondo_relaxed.owl Phialophora GC_ID:1 ncbi_taxonomy owl:Class HGNC:3006 biolink:NamedThing DPM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013370 biolink:NamedThing long QT syndrome 6 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 6|long QT syndrome 6, acquired, susceptibility to|long QT syndrome 6|LQT6|long QT syndrome 3/6, digenic|long QT syndrome caused by mutation in KCNE2|KCNE2 long QT syndrome HGNC:6242|MESH:C566333|GARD:0010434|OMIM:613693|UMLS:C3150953|ICD10:I45.8|DOID:0110648 https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 owl:Class HGNC:6242 biolink:NamedThing KCNE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016984 biolink:NamedThing nevus of Ota Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. tmpak2llvmy_mondo_relaxed.owl oculodermal melanocytosis|oculocutaneous melanocytic Nevus|Ota's Nevus|Nevus fusculoceruleus ophthalmomaxillaris EFO:1000396|NCIT:C7583|Orphanet:263425|ICD9:224.0|UMLS:C0027961|MedDRA:10051713|MESH:D009507|ICD10:D22.3|SCTID:414929001 owl:Class MONDO:0012191 biolink:NamedThing hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. tmpak2llvmy_mondo_relaxed.owl hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|Hepatoencephalopathy due to COXPD1|GFM1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 1|combined oxidative phosphorylation deficiency type 1|Hepatoencephalopathy, early fatal progressive|combined oxidative phosphorylation deficiency caused by mutation in GFM1|COXPD1 UMLS:C1836797|SCTID:764962002|ICD10:E88.8|MESH:C563797|Orphanet:137681|NCIT:C125663|OMIM:609060|DOID:0111474 owl:Class MONDO:0014189 biolink:NamedThing age related macular degeneration 13 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene. tmpak2llvmy_mondo_relaxed.owl CFI age-related macular degeneration|ARMD13|age related macular degeneration type 13|macular Degeneration, age-related, type 13|age-related macular degeneration caused by mutation in CFI|macular degeneration, age-related, 13 UMLS:C3809523|DOID:0110025|OMIM:615439 owl:Class HGNC:5394 biolink:NamedThing CFI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001652 biolink:NamedThing scrotum melanoma A melanoma (disease) that involves the scrotum. tmpak2llvmy_mondo_relaxed.owl scrotum melanoma (disease)|melanoma of scrotum|melanoma of the scrotum|scrotal melanoma|melanoma (disease) of scrotum DOID:13160|UMLS:C1331544|NCIT:C7361 owl:Class CHEBI:50183 biolink:NamedThing P450 inhibitor An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances. tmpak2llvmy_mondo_relaxed.owl cytochrome P450 inhibitors|CYP2D6 inhbitor|CYP2D6 inhbitors|CYP2D6 inhibitors|CYP2D6 inhibitor|cytochrome P450 inhibitor|P450 inhibitors owl:Class MONDO:0100250 biolink:NamedThing 46,XX sex reversal 1 tmpak2llvmy_mondo_relaxed.owl ovotesticular DSD|ovotesticular disorder of Sex development|46,XX Sex reversal, SRY-positive|46,XX true hermaphroditism, SRY-positive|46,XX SEX reversal 1|46,XX gonadal dysgenesis, complete, SRY-positive|46,XX Sex reversal type 1|SRXX1 OMIM:400045 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004969 biolink:NamedThing acute quadriplegic myopathy Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM. tmpak2llvmy_mondo_relaxed.owl EFO:0000225 owl:Class MONDO:0006764 biolink:NamedThing fungal meningitis Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. tmpak2llvmy_mondo_relaxed.owl Fungi caused infectious meningitis|Fungi infectious meningitis DOID:11608|EFO:1000942|ICD9:321.1|SCTID:24321005|ICD9:117.9|UMLS:C0085438|MedDRA:10017538|MESH:D016921 owl:Class UBERON:0010684 biolink:NamedThing pedal digit 5 phalanx cartilage element A cartilage element that is part of a pedal digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl hind limb digit 5 phalanx cartilage condensation|pedal digit V phalanx cartilage element|foot digit 5 phalanx cartilage element owl:Class MONDO:0016577 biolink:NamedThing biliary atresia with splenic malformation syndrome Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. tmpak2llvmy_mondo_relaxed.owl BASM syndrome SCTID:717156002|UMLS:CN201730|Orphanet:244283|UMLS:C4274029|ICD10:Q44.2 owl:Class Na8296525dec74c888913dc87c56e6c21 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014470 biolink:NamedThing autosomal dominant nonsyndromic deafness 65 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpak2llvmy_mondo_relaxed.owl TBC1D24 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 65|deafness, autosomal dominant type 65|deafness, autosomal dominant 65|autosomal dominant nonsyndromic deafness type 65|autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|DFNA65 UMLS:C3892048|OMIM:616044|DOID:0110586|ICD10:H90.3 owl:Class UBERON:0005081 biolink:NamedThing ureter ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048260 biolink:NamedThing positive regulation of receptor-mediated endocytosis Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpak2llvmy_mondo_relaxed.owl activation of receptor mediated endocytosis|positive regulation of receptor mediated endocytosis|up-regulation of receptor mediated endocytosis|up regulation of receptor mediated endocytosis|stimulation of receptor mediated endocytosis|upregulation of receptor mediated endocytosis owl:Class CL:0002236 biolink:NamedThing basal epithelial cell of prostatic duct A cell that constitutes the basal layer of epithelium in the prostatic duct. tmpak2llvmy_mondo_relaxed.owl FMA:74226 tmeehan 2010-09-07T01:59:12Z CL:1000463 cell owl:Class MONDO:0100104 biolink:NamedThing fetal akinesia deformation sequence 4 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene. tmpak2llvmy_mondo_relaxed.owl FADS4 DOID:0111379|OMIM:618393 owl:Class HGNC:8067 biolink:NamedThing NUP88 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18119 biolink:NamedThing SPATA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018554 biolink:NamedThing pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. tmpak2llvmy_mondo_relaxed.owl EFO:0009199|Orphanet:431353|UMLS:CN237555 owl:Class MONDO:0000407 biolink:NamedThing malignant pleural solitary fibrous tumor A malignant form of pleural solitary fibrous tumor. tmpak2llvmy_mondo_relaxed.owl pleural solitary fibrous tumor, malignant DOID:0050695 owl:Class MONDO:0012407 biolink:NamedThing pyridoxal phosphate-responsive seizures Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, neonatal, Pnpo-related|PNPO-related neonatal epileptic encephalopathy|seizures, pyridoxine-resistant, PLP-sensitive|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxine 5' phosphate oxidase deficiency|pyridoxine-5'-phosphate oxidase deficiency|PNPOD|pyridoxamine 5-prime-phosphate oxidase deficiency|pyridoxamine 5'-phosphate oxidase deficiency|PNPO deficiency|Pnpo deficiency|pyridoxamine 5'-oxidase deficiency|pyridoxal phosphate-dependent seizures DOID:0111329|OMIM:610090|GARD:0010730|UMLS:C1864723|MESH:C566449|ICD10:G40.8|SCTID:724576005|Orphanet:79096 owl:Class HGNC:30260 biolink:NamedThing PNPO tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002174 biolink:NamedThing follicular cell of ovary A cell within the follicle of an ovary. tmpak2llvmy_mondo_relaxed.owl FMA:70589|EMAPA:31247 tmeehan 2010-08-25T03:01:27Z cell owl:Class HP:0030016 biolink:NamedThing Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:71315007|UMLS:C1384606|MSH:D004414 Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. human_phenotype owl:Class UBERON:0002787 biolink:NamedThing decussation of trochlear nerve the crossing of the two trochlear nerves at their exit through the velum medullare anterius. tmpak2llvmy_mondo_relaxed.owl trochlear nerve decussation|decussatio fibrarum nervorum trochlearium|decussation of trochlear nerve (IV)|decussatio trochlearis|trochlear neural decussation|trochlear decussation|decussatio nervorum trochlearium|decussation of trochlear nerve fibers|decussation of the trochlear nerve owl:Class HGNC:5261 biolink:NamedThing HSPD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001491 biolink:NamedThing cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. tmpak2llvmy_mondo_relaxed.owl SCTID:409663006|ICD10:J45.991|ICD9:493.82|DOID:12323|UMLS:C0694548 owl:Class HP:0002099 biolink:NamedThing Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. tmpak2llvmy_mondo_relaxed.owl Asthma|Bronchial asthma|Reactive airway disease SNOMEDCT_US:991000119106|SNOMEDCT_US:195967001|UMLS:C3714497|MSH:D001249|UMLS:C0004096 HP:0002112 human_phenotype owl:Class Na7fa13b0b774428bb19dec8ac2c49274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007999 biolink:NamedThing holoprosencephaly 2 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly caused by mutation in SIX3|HPE2|holoprosencephaly type 2|holoprosencephaly 2|SIX3 holoprosencephaly NCIT:C74995|UMLS:C1834877|OMIM:157170|MESH:C563579|DOID:0110872 owl:Class CL:1000427 biolink:NamedThing adrenal cortex chromaffin cell A chromaffin cell that is part of the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl chromaffin cell of adrenal cortex FMA:69795 Not clear this cell type exists. Can't call it a cortical adrenal cell because of different germ layer origin. cell owl:Class MONDO:0032618 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 13 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13|MC1DN13 OMIM:618235 owl:Class HGNC:7685 biolink:NamedThing NDUFA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002808 biolink:NamedThing left temporal lobe A temporal lobe that is part of a left cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0048103 biolink:NamedThing somatic stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. tmpak2llvmy_mondo_relaxed.owl somatic stem cell renewal owl:Class MONDO:0100193 biolink:NamedThing chronic liver failure Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. tmpak2llvmy_mondo_relaxed.owl end stage liver disease (decompensated liver disease)|ESLD|end stage liver disease|end-stage liver disease NCIT:C84428 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:27232 biolink:NamedThing C8orf37 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010401 biolink:NamedThing X-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. tmpak2llvmy_mondo_relaxed.owl X-linked myopathy with postural muscle atrophy|myopathy, X-linked, with postural muscle atrophy|XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked UMLS:C2678055|ICD10:G71.0|DOID:0070251|OMIM:300696|Orphanet:178461 owl:Class HGNC:3702 biolink:NamedThing FHL1 tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0009046 biolink:NamedThing flower A determinate reproductive shoot system (PO:0025082) that has as part at least one carpel (PO:0009030) or at least one stamen (PO:0009029) and does not contain any other determinate shoot system (PO:0009006) as a part. tmpak2llvmy_mondo_relaxed.owl flor (Spanish, exact)|basal flower (narrow)|perfect flower (narrow)|floret (related)|hermaphrodite flower (narrow)|double flower (narrow)|monoclinous flower (narrow)|Asteraceae floret (narrow)|花 (Japanese, exact) PO_GIT:160|PO_GIT:259 The characteristic reproductive structure of angiosperms. May have as part one or more petals, sepals or tepals. May contain one or more pistillode (PO:0009078), staminode (PO:0009077) or other aborted organs that don't show up in mature form. PO:0004541 plant_anatomy owl:Class MONDO:0011013 biolink:NamedThing autosomal dominant hypocalcemia 1 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. tmpak2llvmy_mondo_relaxed.owl hypocalcemia, familial|hypocalcemia, autosomal dominant 1|hypercalciuric hypocalcemia|CASR autosomal dominant hypocalcemia|autosomal dominant hypocalcemia caused by mutation in CASR|HYPOC1|hypocalcemia, autosomal dominant type 1|hypocalcemia, autosomal dominant 1, with Bartter syndrome|autosomal dominant hypocalcemia type 1 DOID:0090107|OMIM:601198 owl:Class HGNC:3373 biolink:NamedThing EP300 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6231 biolink:NamedThing KCNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004773 biolink:NamedThing steryl-sulfatase activity Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate. tmpak2llvmy_mondo_relaxed.owl steroid 3-sulfatase activity|steroid sulfatase activity|steroid sulfate sulfohydrolase activity|arylsulfatase C activity|steryl-sulfate sulfohydrolase activity|phenolic steroid sulfatase activity|dehydroepiandrosterone sulfatase activity|sterol sulfatase activity|dehydroepiandrosterone sulfate sulfatase activity|steryl-sulphatase activity|pregnenolone sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity owl:Class OBO:CHR_9606-chr13q12.3 biolink:NamedThing chr13q12.3 (Human) tmpak2llvmy_mondo_relaxed.owl 31600000 28300000 hg38 owl:Class UBERON:0004123 biolink:NamedThing myocardial layer Any of the layers of the myocardium. Example: compact layer, trabecular layer. tmpak2llvmy_mondo_relaxed.owl myocardium layer|layer of myocardium owl:Class MONDO:0100289 biolink:NamedThing Goldmann-Favre syndrome A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). tmpak2llvmy_mondo_relaxed.owl retinoschisis with early nyctalopia|Favre hyaloideoretinal Degeneration|Goldmann-Favre syndrome ICD10:H35.5|Orphanet:53540|GARD:0010781|SCTID:232065000 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7974 biolink:NamedThing NR2E3 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19q1 biolink:NamedThing chr19q1 (Human) tmpak2llvmy_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class UBERON:0005381 biolink:NamedThing dentate gyrus granule cell layer Granule cell layer is also called the DG principal cell layer. This one of the three layers of dentate gyrus that lies deep to the molecular layer and is made of densely packed layer that is four to eight granule cells thick. tmpak2llvmy_mondo_relaxed.owl DG granule cell layer|dentate gyrus, granule cell layer|stratum granulare gyri dentati|granular layer of the dentate gyrus|granular layer of dentate gyrus owl:Class MONDO:0019846 biolink:NamedThing acquired central diabetes insipidus Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. tmpak2llvmy_mondo_relaxed.owl acquired neurogenic diabetes insipidus|acquired CDI|acquired central diabetes insipidus Orphanet:95626|ICD10:E23.2 owl:Class MONDO:0007286 biolink:NamedThing cataract 30 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13. tmpak2llvmy_mondo_relaxed.owl cataract 30, multiple types|cataract 30, pulverulent|cataract 30 pulverulent|cataract 30|cataract type 30|CTRCT30|cataract Coppock-like MESH:C566157|DOID:0110248|ICD10:Q12.0|UMLS:C3805411|OMIM:116300 owl:Class MONDO:0001120 biolink:NamedThing chronic frontal sinusitis Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpak2llvmy_mondo_relaxed.owl frontal sinusitis, chronic DOID:10790|NCIT:C34473|ICD9:473.1|SCTID:60130002|ICD10:J32.1|UMLS:C0008683 owl:Class GO:0042423 biolink:NamedThing catecholamine biosynthetic process The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpak2llvmy_mondo_relaxed.owl catecholamine formation|catecholamine anabolism|catecholamine biosynthesis|catecholamine synthesis owl:Class UBERON:0005218 biolink:NamedThing diencephalon subarachnoid space A subarachnoid space that is part of a diencephalon [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl subarachnoid space diencephalon owl:Class HGNC:21237 biolink:NamedThing UQCC2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29401 biolink:NamedThing MYSM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001310 biolink:NamedThing Bowman's membrane folds or rupture tmpak2llvmy_mondo_relaxed.owl folds and/or rupture of bowman's membrane|Bowman membrane folds or rupture DOID:11552|ICD10:H18.31|UMLS:C0155115|ICD9:371.31|SCTID:45382000 owl:Class MONDO:0007023 biolink:NamedThing Yersinia infectious disease Infections with bacteria of the genus yersinia. tmpak2llvmy_mondo_relaxed.owl yersiniosis|infections, Yersinia |infection, Yersinia|infections, Yersinia|Yersinia infection|Yersinia infection MESH:D015009|EFO:1001245|SCTID:83436008|NCIT:C128337 owl:Class UBERON:0005338 biolink:NamedThing outflow tract aortic component An outflow tract that is part of a aorta. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010821 biolink:NamedThing regulation of mitochondrion organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrion organisation owl:Class MONDO:0017878 biolink:NamedThing Chapare hemorrhagic fever Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. tmpak2llvmy_mondo_relaxed.owl UMLS:CN203927|DOID:0050198|Orphanet:319244|SCTID:716584007|UMLS:C4274434|ICD10:A96.8 owl:Class NCBITaxon:499556 biolink:NamedThing Chapare mammarenavirus tmpak2llvmy_mondo_relaxed.owl Chapare virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001949 biolink:NamedThing gingival epithelium A stratified squamous epithelium consisting of a basal layer; it is keratinized or parakeratinized[BTO]. tmpak2llvmy_mondo_relaxed.owl gingiva epithelium|epithelial tissue of gingiva|gingiva epithelial tissue|epithelium of gingiva owl:Class MONDO:0013588 biolink:NamedThing Perrault syndrome 3 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. tmpak2llvmy_mondo_relaxed.owl Perrault syndrome type 3|PRLTS3|Perrault syndrome 3|Perrault syndrome caused by mutation in CLPP|CLPP Perrault syndrome|deafness, autosomal recessive 81, formerly|deafness, autosomal recessive 81 UMLS:C3808414|OMIM:614129 based on OMIM phenotypic series 220290. owl:Class MONDO:0010451 biolink:NamedThing intellectual disability, X-linked 41 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in GDI1|intellectual disability, X-linked type 41|intellectual disability, X-linked 41|mental retardation, X-linked type 41|MRX41|mental retardation, X-linked 48|GDI1 non-syndromic X-linked intellectual disability|mental retardation, X-linked 41|intellectual disability, X-linked 48 UMLS:C3887939|OMIM:300849 owl:Class MONDO:0007094 biolink:NamedThing amelogenesis imperfecta type 1A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta type IA|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta, type IA|amelogenesis imperfecta local hypoplastic|AI1A|local hypoplastic amelogenesis imperfecta|amelogenesis imperfecta hypoplastic type IA|amelogenesis imperfecta, type 1A OMIM:104530|MESH:C538240|GARD:0000645|DOID:0110054|ICD10:K00.5 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic owl:Class HGNC:18817 biolink:NamedThing HPS6 tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:0000015 biolink:NamedThing information carrier A quality of an information bearer that imparts the information content tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:0000030 biolink:NamedThing information content entity A generically dependent continuant that is about some thing. tmpak2llvmy_mondo_relaxed.owl information content entity owl:Class MONDO:0011579 biolink:NamedThing late-onset retinal degeneration Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. tmpak2llvmy_mondo_relaxed.owl late-onset retinal degeneration|LORD|pigmentary retinopathy|autosomal dominant late-onset retinal degeneration|retinal Degeneration, late-onset, autosomal dominant Orphanet:67042|SCTID:719431007|MESH:C565309|UMLS:C1854065|OMIM:605670|DOID:0060869|GARD:0004357 owl:Class HGNC:14344 biolink:NamedThing C1QTNF5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010457 biolink:NamedThing Ogden syndrome Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. tmpak2llvmy_mondo_relaxed.owl N acetyltransferase deficiency|X-linked malformation and infantile lethality syndrome|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|N acetyltransferase 1 deficiency|Ogden syndrome|Acetyl-CoA:arylamine n-acetyltransferase|NAT1 deficiency|OGDNS|N-terminal acetyltransferase deficiency|arylamine n-acetyltransferase 1|N-alpha-acetyltransferase OMIM:300855|Orphanet:276432|DOID:0050781|UMLS:C3275447|MESH:C536107|GARD:0000188|HGNC:7645 Editor note: check GARD owl:Class GO:0008080 biolink:NamedThing N-acetyltransferase activity Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001882 biolink:NamedThing Leukopenia An abnormal decreased number of leukocytes in the blood. tmpak2llvmy_mondo_relaxed.owl Low white blood cell count|Decreased blood leukocyte number UMLS:C0023530|SNOMEDCT_US:84828003|MSH:D007970 human_phenotype owl:Class MONDO:0020776 biolink:NamedThing chlamydiaceae infections Infections with bacteria of the family CHLAMYDIACEAE. tmpak2llvmy_mondo_relaxed.owl Chlamydiaceae Infection|Infections, Chlamydiaceae|Infection, Chlamydiaceae|Chlamydiaceae Infections MESH:D002694|UMLS:C0008153|EFO:1001288 owl:Class NCBITaxon:809 biolink:NamedThing Chlamydiaceae tmpak2llvmy_mondo_relaxed.owl PMID:11211265|PMID:25618261|PMID:10319506|PMID:11211261|GC_ID:11|PMID:10319462 ncbi_taxonomy owl:Class HGNC:29284 biolink:NamedThing DIP2B tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp22 biolink:NamedThing chrXp22 (Human) tmpak2llvmy_mondo_relaxed.owl 24900000 0 hg38 owl:Class MONDO:0021390 biolink:NamedThing polyp of ureter A polyp that involves the ureter. tmpak2llvmy_mondo_relaxed.owl ureter polyp|ureteral polyp|polyp of the ureter ICD9:593.89|UMLS:C0346269|SCTID:197821004|NCIT:C4530 owl:Class HGNC:12814 biolink:NamedThing XPA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001161 biolink:NamedThing schizoid personality disorder A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. tmpak2llvmy_mondo_relaxed.owl SCTID:52954000|ICD9:301.2|DOID:10936|ICD10:F60.1|ICD9:301.20|NCIT:C92631|MESH:D012557 owl:Class GO:0120054 biolink:NamedThing intestinal motility Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013265 biolink:NamedThing autism, susceptibility to, 17 tmpak2llvmy_mondo_relaxed.owl AUTS17|autism, susceptibility to, type 17|susceptibility to autism 17|autism, susceptibility to, 17 OMIM:613436 owl:Class UBERON:0015479 biolink:NamedThing scrotum skin A zone of skin that is part of a scrotum. tmpak2llvmy_mondo_relaxed.owl scrotal skin|skin of scrotum owl:Class HGNC:1839 biolink:NamedThing ADA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019553 biolink:NamedThing drug-induced localized lipodystrophy Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. tmpak2llvmy_mondo_relaxed.owl lipoatrophy caused by injected drug ICD10:E88.1|UMLS:CN227649|Orphanet:90157|SCTID:403661001 owl:Class MONDO:0004978 biolink:NamedThing aortic stenosis In the same amount or manner; to the same degree; in the role, function, or capacity of. tmpak2llvmy_mondo_relaxed.owl aortic valve stenosis|aortic stenosis|rheumatic aortic valve stenosis|AS|rheumatic aortic stenosis ICD10:I06.0|DOID:1712|ICD9:746.3|ICD10:Q23.0|ICD9:395.0|EFO:0000266|UMLS:C0155567 owl:Class MONDO:0006654 biolink:NamedThing anthracosis A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. tmpak2llvmy_mondo_relaxed.owl pneumoconiosis from coal dust|coal workers' pneumoconiosis|coal workers' lung|melanoedema|coal dust pneumoconiosis|coal miner's pneumoconiosis|black lung DOID:10327|NCIT:C34390|MESH:D055008|SCTID:29422001|ICD10:J60|UMLS:C0003165|EFO:1000814|ICD9:500|MedDRA:10073051 owl:Class NCBITaxon:11577 biolink:NamedThing La Crosse virus tmpak2llvmy_mondo_relaxed.owl Bunyavirus la crosse GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436486 biolink:NamedThing Dinosauria tmpak2llvmy_mondo_relaxed.owl dinosaurs|dinosaur GC_ID:1 ncbi_taxonomy owl:Class HP:0001156 biolink:NamedThing Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. tmpak2llvmy_mondo_relaxed.owl Brachydactyly syndrome|Short fingers or toes UMLS:C0221357|MSH:D059327|SNOMEDCT_US:43476002 HP:0006128|HP:0005657|HP:0100667|HP:0001189|HP:0005630|HP:0005727|HP:0006017|HP:0001201 human_phenotype owl:Class MONDO:0008086 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1A An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. tmpak2llvmy_mondo_relaxed.owl SPTLC1 hereditary sensory and autonomic neuropathy type 1|HSN 1A|HSAN1A|HSAN 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|neuropathy, hereditary sensory, type 1A|hereditary sensory and autonomic neuropathy type 1A|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A|hereditary sensory and autonomic neuropathy type IA|neuropathy, hereditary sensory and autonomic, type IA GARD:0004798|DOID:0070152|OMIM:162400 Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). owl:Class MONDO:0017454 biolink:NamedThing triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. tmpak2llvmy_mondo_relaxed.owl TPT-PS syndrome UMLS:CN203197|ICD10:Q74.8|Orphanet:2950 owl:Class UBERON:0003409 biolink:NamedThing gland of tongue Any of the mucous, serous, or mixed glands that empty their secretions onto the surface of the tongue. tmpak2llvmy_mondo_relaxed.owl lingual gland|tongue gland owl:Class MONDO:0012237 biolink:NamedThing nemaline myopathy 6 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy type 6|KBTBD13 nemaline myopathy|nemaline myopathy caused by mutation in KBTBD13|NEM6|nemaline myopathy 6|nemaline myopathy 6, autosomal dominant UMLS:C1836472|MESH:C538398|OMIM:609273|DOID:0110935 owl:Class HGNC:37227 biolink:NamedThing KBTBD13 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045651 biolink:NamedThing positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation. tmpak2llvmy_mondo_relaxed.owl up regulation of macrophage differentiation|activation of macrophage differentiation|upregulation of macrophage differentiation|stimulation of macrophage differentiation|up-regulation of macrophage differentiation owl:Class UBERON:0005602 biolink:NamedThing dorsal mesogastrium The portion of mesentery attached to the greater curvature of the stomach is named the dorsal mesentery (or dorsal mesogastrium, when referring to the portion at the stomach), and the part which suspends the colon is termed the mesocolon. The dorsal mesogastrium develops into the greater omentum. tmpak2llvmy_mondo_relaxed.owl dorsal mesentery owl:Class HGNC:4238 biolink:NamedThing GFI1B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2148 biolink:NamedThing CNGA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001174 biolink:NamedThing conjunctival vascular disease A disorder of the vasculature of the cornea. tmpak2llvmy_mondo_relaxed.owl disease or disorder of conjunctival vasculature|disease of conjunctival vasculature|vascular abnormalities of conjunctiva|conjunctival vasculature disease|conjunctival vascular abnormality|disorder of conjunctival vasculature|conjunctival vasculature disease or disorder|conjunctival vascular disorder ICD10:H11.41|DOID:10989|NCIT:C35116|SCTID:74100001|ICD9:372.74 owl:Class HGNC:3010 biolink:NamedThing DPP6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010143 biolink:NamedThing seminal vesicle fluid A bodily secretion that is produced by a seminal vesicle. tmpak2llvmy_mondo_relaxed.owl seminal fluid|seminal vesicle secretion|vesicular fluid|secretion of seminal vesicle owl:Class HGNC:1785 biolink:NamedThing CDKN1B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16446 biolink:NamedThing CARD14 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q11 biolink:NamedThing chr20q11 (Human) tmpak2llvmy_mondo_relaxed.owl 39000000 28100000 hg38 owl:Class HGNC:29456 biolink:NamedThing TOR1AIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class BFO:0000031 biolink:NamedThing generically dependent continuant A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time.|b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001]) tmpak2llvmy_mondo_relaxed.owl GenericallyDependentContinuant gdc the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule.|the pdf file on your laptop, the pdf file that is a copy thereof on my laptop|The entries in your database are patterns instantiated as quality instances in your hard drive. The database itself is an aggregate of such patterns. When you create the database you create a particular instance of the generically dependent continuant type database. Each entry in the database is an instance of the generically dependent continuant type IAO: information content entity. (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001] owl:Class HP:0000668 biolink:NamedThing Hypodontia The absence of five or less teeth from the normal series by a failure to develop. tmpak2llvmy_mondo_relaxed.owl Failure of development of between one and six teeth|Missing between one and six teeth MSH:D000848|UMLS:C0020608|SNOMEDCT_US:64969001 Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. human_phenotype owl:Class HGNC:26661 biolink:NamedThing RNF168 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6211 biolink:NamedThing ANOS1 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000127 biolink:NamedThing 33-year-old human stage Adult stage that refers to an adult who is over 33 and under 34. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002858 biolink:NamedThing ovary rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. tmpak2llvmy_mondo_relaxed.owl rhabdomyosarcoma of ovary|ovarian rhabdomyosarcoma|ovary rhabdomyosarcoma (disease)|rhabdomyosarcoma of the ovary|rhabdomyosarcoma (disease) of ovary DOID:4059|NCIT:C5236|UMLS:C1335176 owl:Class MONDO:0013890 biolink:NamedThing congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. tmpak2llvmy_mondo_relaxed.owl myopathy, centronuclear, type 4|centronuclear myopathy type 4|CNM4|myopathy, centronuclear, 4 OMIM:614807|UMLS:C3553709|SCTID:764945007|Orphanet:319160|ICD10:G71.2 owl:Class MONDO:0024542 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, congenital, and mental retardation, autosomal recessive|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|dysequilibrium syndrome|dysequilibrium syndrome caused by mutation in VLDLR|VLDLR dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|CAMRQ1 UMLS:CN074243|OMIM:224050 owl:Class HGNC:12698 biolink:NamedThing VLDLR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013986 biolink:NamedThing combined oxidative phosphorylation defect type 14 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. tmpak2llvmy_mondo_relaxed.owl FARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in FARS2|combined oxidative phosphorylation deficiency 14|combined oxidative phosphorylation deficiency type 14|COXPD14 DOID:0111477|Orphanet:319519|ICD10:E88.8|UMLS:C3554168|OMIM:614946 owl:Class MONDO:0012387 biolink:NamedThing osteosclerosis-ichthyosis-premature ovarian failure syndrome This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. tmpak2llvmy_mondo_relaxed.owl osteosclerosis with ichthyosis and POF|osteosclerosis with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome SCTID:722114007|MESH:C536064|GARD:0009904|OMIM:609993|Orphanet:75325 owl:Class PATO:0001987 biolink:NamedThing saccular A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. tmpak2llvmy_mondo_relaxed.owl sacular owl:Class MONDO:0060764 biolink:NamedThing tetraamelia syndrome 1 tmpak2llvmy_mondo_relaxed.owl tetraamelia syndrome, autosomal recessive|TETAMS1|tetraamelia syndrome 1 OMIM:273395 owl:Class CL:0000771 biolink:NamedThing eosinophil Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. tmpak2llvmy_mondo_relaxed.owl eosinophilic leucocyte|eosinophilic leukocyte|polymorphonuclear leukocyte|eosinophilic granulocyte|polymorphonuclear leucocyte|eosinocyte CALOHA:TS-0279|BTO:0000399|FMA:62861 Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. cell owl:Class CL:0000845 biolink:NamedThing marginal zone B cell of spleen A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high. tmpak2llvmy_mondo_relaxed.owl marginal zone B-cell|marginal zone B lymphocyte|B cell of marginal zone of spleen|MZ B lymphocyte|MZ B-lymphocyte|marginal zone B-lymphocyte|marginal zone B cell|MZ B-cell|marginal zone of spleen B cell|MZ B cell MZ B cells are reportedly CD1-positive (mice), CD20-positive, CD48-positive, CD84-positive, CD150-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:0014713 biolink:NamedThing porokeratosis 9, multiple types Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. tmpak2llvmy_mondo_relaxed.owl POROK9|porokeratosis 9, multiple types; POROK9|FDPS porokeratosis (disease)|porokeratosis (disease) caused by mutation in FDPS|porokeratosis 9, multiple types UMLS:C4225262|OMIM:616631 owl:Class HGNC:3631 biolink:NamedThing FDPS tmpak2llvmy_mondo_relaxed.owl owl:Class N1b8b66a2298643748956478a8a26809e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014835 biolink:NamedThing striatal degeneration, autosomal dominant 2 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. tmpak2llvmy_mondo_relaxed.owl striatal Degeneration, autosomal dominant 2|PDE10A striatal degeneration, autosomal dominant|ADSD2|striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant 2; ADSD2|striatal degeneration, autosomal dominant caused by mutation in PDE10A UMLS:C4310791|OMIM:616922 owl:Class CL:0000058 biolink:NamedThing chondroblast Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. tmpak2llvmy_mondo_relaxed.owl chrondoplast FMA:66783|BTO:0003607 cell owl:Class HGNC:11604 biolink:NamedThing TBX5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12428 biolink:NamedThing TWIST1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002541 biolink:NamedThing spinal cord oligodendroglioma A oligodendroglioma that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl oligodendroglioma of spinal cord|spinal cord oligodendroglioma|well differentiated spinal cord oligodendroglial tumor|well differentiated spinal cord oligodendroglioma UMLS:C0346295|DOID:3184|NCIT:C4535|SCTID:254950006 owl:Class NCBITaxon:42068 biolink:NamedThing Pneumocystis jirovecii tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class SO:1000045 biolink:NamedThing ring_chromosome A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpak2llvmy_mondo_relaxed.owl (fungi)C|ring chromosome|(Drosophila)R owl:Class MONDO:0024468 biolink:NamedThing anterior pituitary gland disease A disease that involves the adenohypophysis. tmpak2llvmy_mondo_relaxed.owl disease of adenohypophysis|adenohypophysis disease or disorder|disorder of anterior pituitary gland|disorder of anterior pituitary|adenohypophysis disease|disorder of adenohypophysis|disease or disorder of adenohypophysis ICD9:253.9|ICD9:253.4|SCTID:51742006 owl:Class MONDO:0044101 biolink:NamedThing pregnancy, cornual An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. tmpak2llvmy_mondo_relaxed.owl cornual pregnancy|uterine horn ectopic pregnancy|cornual Pregnancies|Pregnancies, cornual|ectopic pregnancy of uterine horn|rudimentary horn pregnancy NCIT:C92761|SCTID:87605005|MESH:D065173 owl:Class MONDO:0000292 biolink:NamedThing philophthalmiasis A disease caused by infection with Philophthalmus. tmpak2llvmy_mondo_relaxed.owl Philophthalmus caused disease or disorder|Philophthalmus disease or disorder|Philophthalmus infectious disease DOID:0050250 owl:Class NCBITaxon:685953 biolink:NamedThing Philophthalmus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009874 biolink:NamedThing Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). tmpak2llvmy_mondo_relaxed.owl Rabson-Mendenhall syndrome|pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Mendenhall syndrome GARD:0000226|ICD10:E13|Orphanet:769|NCIT:C131000|SCTID:33559001|UMLS:C0271695|OMIM:262190|ICD9:259.8 https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome owl:Class GO:0035228 biolink:NamedThing negative regulation of glutamate-cysteine ligase activity Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. tmpak2llvmy_mondo_relaxed.owl inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity owl:Class MONDO:0010713 biolink:NamedThing properdin deficiency, X-linked Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. tmpak2llvmy_mondo_relaxed.owl properdin deficiency, type 3|properdin deficiency, type 1|properdin deficiency, type 2|CFPD|complement Factor properdin deficiency|properdin P Factor deficiency|properdin deficiency, X-linked|PFD Orphanet:2966|GARD:0009913|GARD:0004513|ICD9:279.8|OMIM:312060|ICD10:D84.1|MESH:C537241|DOID:0111768|SCTID:81166004 owl:Class MONDO:0017157 biolink:NamedThing pulmonary hypertension owing to lung disease and/or hypoxia tmpak2llvmy_mondo_relaxed.owl PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia UMLS:C3698136|ICD10:I27.2|SCTID:697910001|ICD9:416.8|UMLS:CN202580|Orphanet:275837 owl:Class MONDO:0018107 biolink:NamedThing idiopathic recurrent and disabling cutaneous herpes tmpak2llvmy_mondo_relaxed.owl ICD10:B00.1|Orphanet:35061|UMLS:CN204468 owl:Class CL:0002000 biolink:NamedThing Kit-positive erythroid progenitor cell An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. tmpak2llvmy_mondo_relaxed.owl c- Kit-positive erythroid progenitor cell Markers found on mouse cells. tmeehan 2010-04-26T10:14:16Z cell owl:Class MONDO:0010502 biolink:NamedThing intellectual disability, X-linked 99, syndromic, female-restricted Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 99, syndromic, female-restricted|MRXS99F|USP9X X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in USP9X|intellectual disability, X-linked 99, syndromic, female-restricted OMIM:300968 owl:Class MONDO:0013885 biolink:NamedThing Malan overgrowth syndrome Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. tmpak2llvmy_mondo_relaxed.owl Sotos syndrome type 2|Malan syndrome|Sotos syndrome 2|SOTOS2 OMIM:614753|ICD10:Q87.3|SCTID:763795006|Orphanet:420179|UMLS:C3553660 owl:Class HGNC:7788 biolink:NamedThing NFIX tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34504 biolink:NamedThing Paragonimus westermani tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013288 biolink:NamedThing agammaglobulinemia 3, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. tmpak2llvmy_mondo_relaxed.owl autosomal agammaglobulinemia caused by mutation in CD79A|CD79A autosomal agammaglobulinemia|agammaglobulinemia 3, autosomal recessive|AGM3|agammaglobulinemia, autosomal recessive, due to Cd79A defect OMIM:613501|UMLS:C3150751 owl:Class HGNC:1698 biolink:NamedThing CD79A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013549 biolink:NamedThing N-acetylaspartate deficiency tmpak2llvmy_mondo_relaxed.owl hypoacetylaspartia|NACED|naa deficiency|N-acetylaspartate deficiency OMIM:614063|UMLS:C3279716 owl:Class HGNC:26742 biolink:NamedThing NAT8L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003537 biolink:NamedThing left lung alveolar duct An alveolar duct that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl alveolar duct of left lung owl:Class MONDO:0009928 biolink:NamedThing pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar microlithiasis DOID:12117|ICD9:516.2|MESH:C562405|ICD10:J84.0|SCTID:87153008|MedDRA:10037315|UMLS:C0155912|OMIM:265100|GARD:0011894|Orphanet:60025|ICD10:J84.02 https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis owl:Class MONDO:0014309 biolink:NamedThing obesity due to CEP19 deficiency tmpak2llvmy_mondo_relaxed.owl MOSPGF|morbid obesity and spermatogenic failure UMLS:C3810324|ICD10:E66.8|Orphanet:397615|OMIM:615703 owl:Class HGNC:28209 biolink:NamedThing CEP19 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0002302 biolink:NamedThing decreased process quality A quality of a process that has a value that is decreased compared to normal or average. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008774 biolink:NamedThing 2-aminoadipic 2-oxoadipic aciduria tmpak2llvmy_mondo_relaxed.owl AMOXAD|2-aminoadipic 2-oxoadipic aciduria|Alpha-aminoadipic aciduria Orphanet:79154|DOID:0111453|OMIM:204750|ICD10:E72.3 owl:Class UBERON:0004907 biolink:NamedThing lower digestive tract The region of the digestive tract extending from the beginning of the intestines to the anus[GO - gut definition]. tmpak2llvmy_mondo_relaxed.owl lower GI tract|gut|lower gastrointestinal tract owl:Class MONDO:0012438 biolink:NamedThing pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. tmpak2llvmy_mondo_relaxed.owl fetal-onset olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia, fetal-onset|olivopontocerebellar hypoplasia fetal-onset|PCH5|pontocerebellar hypoplasia, type 5 OMIM:610204|ICD10:Q04.3|UMLS:C1857762|DOID:0060274|Orphanet:166068|MESH:C537745|SCTID:718607001|GARD:0010709 https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 owl:Class HGNC:17042 biolink:NamedThing PUF60 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005493 biolink:NamedThing delayed encephalopathy after acute carbon monoxide poisoning Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event tmpak2llvmy_mondo_relaxed.owl EFO:0005534 owl:Class MONDO:0013529 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 3 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene. tmpak2llvmy_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 3|catecholaminergic polymorphic ventricular tachycardia 3|TECRL catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia type 3|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|CPVT3|CVPT3 DOID:0060677|ICD10:I47.2|UMLS:C3151463|OMIM:614021 owl:Class HGNC:27365 biolink:NamedThing TECRL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018691 biolink:NamedThing ventral side of post-anal tail tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014389 biolink:NamedThing polyglucosan body myopathy 1 with or without immunodeficiency tmpak2llvmy_mondo_relaxed.owl polyglucosan body myopathy 1 with or without immunodeficiency|PGBM1|polyglucosan body myopathy, early-onset, with or without immunodeficiency OMIM:615895|UMLS:C4014605 owl:Class MONDO:0012132 biolink:NamedThing colorectal cancer, susceptibility to, 1 Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene. tmpak2llvmy_mondo_relaxed.owl colorectal cancer caused by mutation in GALNT12|CRCS1|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, on chromosome 9|colorectal cancer, susceptibility to, type 1|colorectal cancer, susceptibility to, 1|susceptibility to colorectal cancer 1|GALNT12 colorectal cancer OMIM:608812 owl:Class MONDO:0017776 biolink:NamedThing nocardiosis Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. tmpak2llvmy_mondo_relaxed.owl Nocardia caused disease or disorder|lung nocardiosis|Nocardia disease or disorder|Nocardia infectious disease|Nocardia infection SCTID:29227009|Orphanet:31204|EFO:0007397|GARD:0007210|ICD10:A43.0|DOID:2312|ICD10:A43|ICD10:A43.1|ICD10:A43.9|MedDRA:10029444|MESH:D009617|ICD10:A43.8 https://rarediseases.info.nih.gov/diseases/7210/nocardiosis owl:Class MONDO:0010915 biolink:NamedThing autosomal dominant nonsyndromic deafness 4A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 4A|MYH14 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 4A|DFNA4A|deafness, autosomal dominant type 4A|autosomal dominant nonsyndromic deafness caused by mutation in MYH14|deafness, autosomal dominant 4A|deafness, autosomal dominant 4 OMIM:600652|ICD10:H90.3|MESH:C563460|UMLS:C1833503|DOID:0110573 owl:Class MONDO:0008931 biolink:NamedThing Cenani-Lenz syndactyly syndrome Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. tmpak2llvmy_mondo_relaxed.owl Cenani syndactyly|syndactyly, type 7|Cenani-Lenz syndactyly|Cenani syndactylism|Cenani-Lenz syndactyly syndrome|syndactyly Cenani Lenz type|syndactyly type 7|CLSS|Cenani-Lenz type syndactyly|Cenani-Lenz syndrome DOID:0090015|OMIM:212780|ICD10:Q78.4|MESH:C538150|Orphanet:3258|UMLS:C1859309|SCTID:720633009|GARD:0005084 owl:Class HGNC:6696 biolink:NamedThing LRP4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007307 biolink:NamedThing Charcot-Marie-Tooth disease type 1B A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. tmpak2llvmy_mondo_relaxed.owl HMSN1B|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|HMSN1|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|Charcot-Marie-Tooth disease, demyelinating, type 1B|Charcot-Marie-Tooth neuropathy type 1B|hereditary motor and sensory neuropathy 1B|hereditary motor and sensory neuropathy 1|CMT1B|hereditary motor and sensory neuropathy IB|MPZ Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth neuropathy, type 1B|HMSN 1B|HMSN IB|Charcot Marie Tooth disease type 1B|CMT 1B ICD10:G60.0|DOID:0110152|NCIT:C118782|GARD:0001246|OMIM:118200|Orphanet:101082|UMLS:C0270912 owl:Class MONDO:0023868 biolink:NamedThing melanoma associated retinopathy Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. tmpak2llvmy_mondo_relaxed.owl Retinopathies, Melanoma-Associated|Melanoma Associated Retinopathy|Retinopathy, Melanoma-Associated|Melanoma-associated retinopathy|Melanoma associated retinopathy|Melanoma-Associated Retinopathy|Melanoma-Associated Retinopathies GARD:0012041|UMLS:C0730308|SCTID:312941005 owl:Class UBERON:0035831 biolink:NamedThing costal diaphragm The domain of the diaphragm that is a thin domed sheet of muscle composed of a radial array of myofibers extending laterally from the ribs and medially to a central tendon. tmpak2llvmy_mondo_relaxed.owl pars costalis diaphragmatis|costal part of diaphragm owl:Class HGNC:15917 biolink:NamedThing PLCB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25018 biolink:NamedThing TMEM216 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000967 biolink:NamedThing Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034754|SNOMEDCT_US:271813007|SNOMEDCT_US:50091001|UMLS:C0031256|MSH:D011693 human_phenotype owl:Class MONDO:0002048 biolink:NamedThing thrombocytopenia due to immune destruction A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). tmpak2llvmy_mondo_relaxed.owl thrombocytopenia due to immune destruction|immune thrombocytopenia|auto-immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization NCIT:C3991|GARD:0006768|DOID:1587 owl:Class HGNC:7578 biolink:NamedThing MYH8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011541 biolink:NamedThing dilated cardiomyopathy 1J An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. tmpak2llvmy_mondo_relaxed.owl sensorineural hearing loss with dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|cardiomyopathy, dilated, 1J|neurosensory hearing loss with dilated cardiomyopathy|dilated cardiomyopathy 1J|CMD1J|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|EYA4 familial dilated cardiomyopathy|neurosensory deafness with dilated cardiomyopathy|sensorineural deafness with dilated cardiomyopathy|familial dilated cardiomyopathy caused by mutation in EYA4|cardiomyopathy, dilated, type 1J|dilated cardiomyopathy type 1J UMLS:C1854368|DOID:0110440|OMIM:605362|MESH:C565337|Orphanet:217622 owl:Class HGNC:3522 biolink:NamedThing EYA4 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001308 biolink:NamedThing external iliac artery The external iliac artery is a large artery in the pelvic region that carries blood to the lower limb. The external iliac artery is a paired artery, meaning there is one on each side of the body: a right external iliac artery and left external iliac artery. The external iliac artery is accompanied by the external iliac vein, which is located posterior to the artery. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria iliaca externa owl:Class GO:0050911 biolink:NamedThing detection of chemical stimulus involved in sensory perception of smell The series of events involved in the perception of smell in which an olfactory chemical stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl sensory transduction of smell|sensory detection of smell|sensory detection of chemical stimulus during perception of smell|perception of smell, sensory transduction of chemical stimulus|sensory transduction of scent|sensory detection of scent|sensory transduction of chemical stimulus during perception of smell|perception of smell, sensory detection of chemical stimulus|perception of smell, detection of chemical stimulus owl:Class HP:0000853 biolink:NamedThing Goiter An enlargement of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl Thyroid goiter|Goitre|Thyroid goitre|Enlarged thyroid gland in neck UMLS:C0018021|SNOMEDCT_US:3716002|MSH:D006042 human_phenotype owl:Class MONDO:0003357 biolink:NamedThing lung leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl leiomyosarcoma of lung|lung leiomyosarcoma|leiomyosarcoma of the lung|pulmonary leiomyosarcoma DOID:5265|UMLS:C1334448|NCIT:C5667 owl:Class ECTO:0000931 biolink:NamedThing exposure to environmental contaminant An exposure to environmental contaminant. tmpak2llvmy_mondo_relaxed.owl exposure to environmental contaminant owl:Class OBO:CHR_9606-chr20q11.2 biolink:NamedThing chr20q11.2 (Human) tmpak2llvmy_mondo_relaxed.owl 39000000 30400000 hg38 owl:Class OBO:CHR_9606-chr22q1 biolink:NamedThing chr22q1 (Human) tmpak2llvmy_mondo_relaxed.owl 50818468 15000000 hg38 owl:Class HGNC:9587 biolink:NamedThing PTDSS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003483 biolink:NamedThing thymus lymphoid tissue A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl lymphoid tissue of thymus|thymus gland lymphoid tissue|lymphoid tissue of thymus gland owl:Class GO:0007265 biolink:NamedThing Ras protein signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. tmpak2llvmy_mondo_relaxed.owl Ras mediated signal transduction owl:Class MONDO:0012866 biolink:NamedThing hereditary spastic paraplegia 35 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. tmpak2llvmy_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in FA2H|SPG35|autosomal recessive spastic paraplegia 35|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|FA2H hereditary spastic paraplegia|hereditary spastic paraplegia type 35|autosomal recessive spastic paraplegia type 35|spastic paraplegia 35, autosomal recessive|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|hereditary spastic paraplegia 35 SCTID:764688002|Orphanet:171629|UMLS:C3496228|MESH:C567311|DOID:0110786|OMIM:612319|ICD10:G11.4 owl:Class MONDO:0021408 biolink:NamedThing polyp of frontal sinus A polyp that involves the frontal sinus. tmpak2llvmy_mondo_relaxed.owl frontal sinus polyp|polyp of the frontal sinus UMLS:C0339814|NCIT:C4367|SCTID:195759002|ICD9:471.8 owl:Class UBERON:0001760 biolink:NamedThing frontal sinus The frontal sinus occupies the dorsal part of the skull medial to the orbit. It overlaps cranial and nasal cavities and is often referred to as the conchofrontal sinus. . tmpak2llvmy_mondo_relaxed.owl cavity of frontal bone|sinus frontales owl:Class GO:0043588 biolink:NamedThing skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. tmpak2llvmy_mondo_relaxed.owl animal skin development owl:Class MONDO:0024431 biolink:NamedThing bilirubin metabolism disease tmpak2llvmy_mondo_relaxed.owl disorder of bilirubin metabolism SCTID:80006005 owl:Class MONDO:0013236 biolink:NamedThing pancreatic cancer, susceptibility to, 3 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene. tmpak2llvmy_mondo_relaxed.owl familial pancreatic carcinoma caused by mutation in PALB2|pancreatic cancer, susceptibility to, type 3|susceptibility to pancreatic cancer 3|PALB2 familial pancreatic carcinoma|Pnca3|pancreatic cancer, susceptibility to, 3 OMIM:613348 owl:Class UBERON:0002237 biolink:NamedThing true rib A rib that is ventrally connected to the sternum. tmpak2llvmy_mondo_relaxed.owl costae verae|costa vera owl:Class MONDO:0012543 biolink:NamedThing optic atrophy 5 tmpak2llvmy_mondo_relaxed.owl optic atrophy 5|OPA5 OMIM:610708|DOID:0111438|GARD:0010201|MESH:C537126|UMLS:C1853139 owl:Class HGNC:10013 biolink:NamedThing GRK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007293 biolink:NamedThing leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. tmpak2llvmy_mondo_relaxed.owl Lfa1 immunodeficiency|LFA 1 immunodeficiency|lad-type I|lad|leukocyte adhesion deficiency 1|lad-I|LFA-I deficiency|leukocyte adhesion deficiency type I|LFA1 immunodeficiency|leukocyte adhesion deficiency type 1|lad 1|lymphocyte function-associated antigen 1 immunodeficiency|leukocyte adhesion deficiency, type 1|leukocyte adhesion deficiency, type I|LAD1|ITGB2 leukocyte adhesion deficiency|leukocyte adhesion deficiency caused by mutation in ITGB2|Lad1 OMIM:116920|NCIT:C4689|Orphanet:99842|UMLS:C0398738|ICD10:D84.8|MESH:C535887|DOID:0110910|SCTID:234582006|GARD:0006893 owl:Class HGNC:17146 biolink:NamedThing ARL2BP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013058 biolink:NamedThing cystic leukoencephalopathy without megalencephaly Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy, cystic, without megalencephaly|RNAse T2-deficient leukoencephalopathy|CLWM MESH:C567845|ICD10:E75.2|UMLS:C2751843|SCTID:720825005|GARD:0013199|Orphanet:85136|OMIM:612951 owl:Class MONDO:0008757 biolink:NamedThing alopecia universalis congenita The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. tmpak2llvmy_mondo_relaxed.owl ALUNC|atrichia, generalized|alopecia areata universalis|AU|alopecia universalis congenita|alopecia universalis DOID:0050634|ICD10:L63.1|UMLS:C0263505|MedDRA:10001767|SCTID:86166000|OMIM:203655|GARD:0000614|MESH:C537055|Orphanet:701|ICD9:704.09 owl:Class UBERON:0035841 biolink:NamedThing esophagogastric junction muscularis propria muscularis propria from the lowest portion of the esophagus, just proximal to the stomach. tmpak2llvmy_mondo_relaxed.owl gastro-esophageal junction muscularis propria owl:Class MONDO:0009213 biolink:NamedThing Fanconi anemia complementation group C Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. tmpak2llvmy_mondo_relaxed.owl FA3|Fanconi Anemia, complementation group type C|Fanconi pancytopenia, type 3|Fanconi pancytopenia type 3|FACC|facc|Fanconi anemia complementation group C|FANCC|Fanconi anemia, complementation group C|Fanconi anemia complementation group type C UMLS:C3468041|NCIT:C125704|DOID:0111087|OMIM:227645 owl:Class HGNC:3584 biolink:NamedThing FANCC tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009581 biolink:NamedThing midbrain mantle layer tmpak2llvmy_mondo_relaxed.owl midbrain lateral wall mantle layer|mantle layer lateral wall mesencephalon|mantle layer lateral wall midbrain owl:Class MONDO:0013900 biolink:NamedThing alternating hemiplegia of childhood 2 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. tmpak2llvmy_mondo_relaxed.owl alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3|AHC2 UMLS:C3553788|OMIM:614820 owl:Class HGNC:801 biolink:NamedThing ATP1A3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001303 biolink:NamedThing left uterine tube A fallopian tube that is part of a left side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left fallopian tube|left oviduct owl:Class GO:0140513 biolink:NamedThing nuclear protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. tmpak2llvmy_mondo_relaxed.owl nuclear complex owl:Class HGNC:25491 biolink:NamedThing FRMD4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016733 biolink:NamedThing ganglioglioma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl mixed cell tumors containing both neural ganglionic cells and neural glial cell components|ganglioglioma|adult ganglioglioma|CNS ganglioglioma|childhood ganglioglioma ICDO:9505/1|EFO:0003094|NCIT:C3788|DOID:5078|ONCOTREE:GNG|MedDRA:10017701|Orphanet:251949|SCTID:87191000119100|MESH:D018303|UMLS:C0206716|GARD:0002430 https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma owl:Class HGNC:10975 biolink:NamedThing SLC24A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013302 biolink:NamedThing nephronophthisis 11 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. tmpak2llvmy_mondo_relaxed.owl NPHP11|nephronophthisis type 11|nephronophthisis 11 OMIM:613550|DOID:0111118|UMLS:C3150796 owl:Class HsapDv:0000083 biolink:NamedThing infant stage Immature stage that refers to an infant who is over 31 days and is under 24 months old. tmpak2llvmy_mondo_relaxed.owl 1-23 months|infantile stage owl:Class N68e0fea1ff754baf9e29f48e4785f7ca biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010310 biolink:NamedThing osteopathia striata with cranial sclerosis Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. tmpak2llvmy_mondo_relaxed.owl osteopathia striata-cranial sclerosis syndrome|Robinow-Unger syndrome|hyperostosis generalisata with striations|osteopathia striata - cranial sclerosis|osteopathia striata with cranial sclerosis|osteopathia striata cranial sclerosis|OSCS UMLS:C0432268|ICD10:Q78.8|MESH:C536053|DOID:0060886|EFO:0005834|SCTID:254129003|ICD9:733.99|OMIM:300373|Orphanet:2780|GARD:0004148 owl:Class MONDO:0013946 biolink:NamedThing hypogonadotropic hypogonadism 15 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. tmpak2llvmy_mondo_relaxed.owl HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in HS6ST1|HH15|hypogonadotropic hypogonadism 15 with or without anosmia UMLS:C3553977|DOID:0090075|ICD10:23.0|OMIM:614880 owl:Class HGNC:5201 biolink:NamedThing HS6ST1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001907 biolink:NamedThing adult dermatomyositis Dermatomyositis in an adult. tmpak2llvmy_mondo_relaxed.owl dermatomyositis of adults|adult onset dermatomyositis DOID:14202|NCIT:C27313|SCTID:402425006 owl:Class MONDO:0010212 biolink:NamedThing xeroderma pigmentosum group D Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. tmpak2llvmy_mondo_relaxed.owl XP4|xeroderma pigmentosum, complementation group type D|XPH|XPDC|ERCC2 xeroderma pigmentosum|XP4 xeroderma pigmentosum VIII|XP8|XPD|xeroderma pigmentosum caused by mutation in ERCC2|xeroderma pigmentosum IV|xeroderma pigmentosum VIII|XP, Group H, formerly|xeroderma pigmentosum group D|xeroderma pigmentosum group type D|XP-D|XP, Group D|xeroderma pigmentosum, complementation group D|xeroderma pigmentosum 4|XP group D|XP, Group H|XP4 xeroderma pigmentosum VIII, formerly|XP group H SCTID:68637004|MESH:C562591|NCIT:C3967|ICD10:Q82.1|Orphanet:276258|DOID:0110845|OMIM:278730 owl:Class MONDO:0014065 biolink:NamedThing mitochondrial complex III deficiency nuclear type 4 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in UQCRQ|mitochondrial complex III deficiency, nuclear type 4|UQCRQ mitochondrial complex III deficiency|MC3DN4|mitochondrial Complex 3 deficiency, nuclear type 4 OMIM:615159|UMLS:C3554607|DOID:0080113 owl:Class MONDO:0002981 biolink:NamedThing peripheral primitive neuroectodermal tumor of bone A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. tmpak2llvmy_mondo_relaxed.owl peripheral neuroectodermal tumor of the bone|peripheral primitive neuroectodermal tumor of bone tissue|peripheral neuroepithelioma of bone|peripheral primitive neuroectodermal tumor of bone|peripheral neuroectodermal tumor of bone|peripheral neuroepithelioma of the bone|bone peripheral neuroepithelioma|osseous peripheral neuroepithelioma|bone tissue peripheral primitive neuroectodermal tumor NCIT:C8776|DOID:4388|UMLS:C0855009 owl:Class MONDO:0004114 biolink:NamedThing urinary bladder small cell neuroendocrine carcinoma A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. tmpak2llvmy_mondo_relaxed.owl small cell/neuroendocrine carcinoma of urinary bladder|small cell carcinoma of urinary bladder|bladder small cell neuroendocrine cancer|small cell carcinoma of the urinary bladder|SCCB|small cell neuroendocrine carcinoma of the urinary bladder|bladder small cell neuroendocrine carcinoma|small cell bladder cancer|urinary bladder small cell carcinoma|small cell neuroendocrine carcinoma of urinary bladder|poorly differentiated neuroendocrine carcinoma of the bladder|small cell bladder carcinoma|small cell carcinoma of the bladder EFO:1000129|ICD10:C67.5|ICD10:C67.3|ICD10:C67.0|GARD:0011923|NCIT:C9461|UMLS:C1332564|DOID:7132|Orphanet:284400|ICD10:C67.7|ICD10:C67.8|ICD10:C67.9|ICD10:C67.2|UMLS:CN202866|ICD10:C67.1|ONCOTREE:SCBC|ICD10:C67.6|ICD10:C67.4 https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder owl:Class MONDO:0011573 biolink:NamedThing psoriasis 7, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 7, susceptibility to|PSORS7 DOID:0111279|OMIM:605606 owl:Class MONDO:0013463 biolink:NamedThing dextro-looped transposition of the great arteries 3 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene. tmpak2llvmy_mondo_relaxed.owl transposition of the great arteries, dextro-looped 3|dextro-looped transposition of the great arteries type 3|congenital heart defects, multiple types, 6|GDF1 dextro-looped transposition of the great arteries|CHTD6|transposition of the great arteries, dextro-looped 3, formerly|transposition of the great arteries, dextro-looped type 3|dextro-looped transposition of the great arteries caused by mutation in GDF1|DTGA3 UMLS:C3151221|ICD10:Q20.3|DOID:0060772|OMIM:613854 owl:Class MONDO:0042233 biolink:NamedThing disseminated candidiasis Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. tmpak2llvmy_mondo_relaxed.owl disseminated candidiasis|systemic candidiasis|invasive candidiasis|disseminated candida|disseminated candidosis|systemic candida infections GARD:0001076|NCIT:C116812|SCTID:70572005 owl:Class MONDO:0009837 biolink:NamedThing choroid plexus papilloma Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. tmpak2llvmy_mondo_relaxed.owl childhood papilloma of choroid plexus|choroid plexus carcinoma|choroid plexus papilloma|papilloma of choroid plexus|choroid plexus papilloma, no ICD-O subtype|papilloma, choroid plexus, benign|pediatric papilloma of choroid plexus|papilloma of the choroid plexus|choroid plexus papilloma NOS (morphologic abnormality)|childhood choroid plexus papilloma|CPP ICDO:9390/0|ONCOTREE:CPP|NCIT:C3698|UMLS:C0205770|OMIM:260500|EFO:1000177|SCTID:425868004|MedDRA:10008777|GARD:0004214|MESH:D020288|DOID:2626|ICD10:D33.0|Orphanet:2807 owl:Class MONDO:0008770 biolink:NamedThing amelogenesis imperfecta type 1C tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, type 1C|autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta type IC|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|AI1C|amelogenesis imperfecta, type IC UMLS:C2673923|OMIM:204650|ICD10:K00.5|DOID:0110056|MESH:C567147 owl:Class MONDO:0010265 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. tmpak2llvmy_mondo_relaxed.owl Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|OFD1 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2|Sgbs2|SGBS2|lethal variant of Simpson-Golabi-Behmel syndrome OMIM:300209|Orphanet:79022|DOID:0080342|ICD10:Q87.3|MESH:C564567|UMLS:C1846175 owl:Class HGNC:8148 biolink:NamedThing OPHN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014073 biolink:NamedThing dilated cardiomyopathy 1II Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpak2llvmy_mondo_relaxed.owl CRYAB familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1II|cardiomyopathy, dilated, 1II|CMD1II|dilated cardiomyopathy type 1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB UMLS:C3554649|ICD10:I42.0|OMIM:615184|DOID:0110450 owl:Class MONDO:0013910 biolink:NamedThing hypogonadotropic hypogonadism 8 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. tmpak2llvmy_mondo_relaxed.owl HH8|hypogonadotropic hypogonadism 8 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in KISS1R|KISS1R hypogonadotropic hypogonadism ICD10:E23.0|UMLS:C3553841|DOID:0090074|OMIM:614837 owl:Class HGNC:4510 biolink:NamedThing KISS1R tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25740 biolink:NamedThing CEP78 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031128 biolink:NamedThing developmental induction A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20249 biolink:NamedThing SPRED1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020021 biolink:NamedThing diaphragmatic or abdominal wall malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:98043 owl:Class MONDO:0012970 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 6 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene. tmpak2llvmy_mondo_relaxed.owl nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|SOD2 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 6|microvascular complications of diabetes, susceptibility to, type 6|MVCD6 OMIM:612634 owl:Class HGNC:11180 biolink:NamedThing SOD2 tmpak2llvmy_mondo_relaxed.owl owl:Class Nc565c5bc200f48bcbbf8d93c76f530b8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0007605 biolink:NamedThing sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. tmpak2llvmy_mondo_relaxed.owl perception of sound|hearing owl:Class HGNC:19986 biolink:NamedThing CYCS tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1101 biolink:NamedThing BRCA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004313 biolink:NamedThing gasserian ganglion meningioma A meningioma that affects the trigeminal ganglion. tmpak2llvmy_mondo_relaxed.owl meningioma of the Gasserian ganglion|meningioma (disease) of gasserian ganglion|gasserian ganglion meningioma (disease)|meningioma of Gasserian ganglion|Gasserian meningioma UMLS:C1333760|DOID:7635|NCIT:C6779 owl:Class MONDO:0006611 biolink:NamedThing skin sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. tmpak2llvmy_mondo_relaxed.owl zone of skin sarcoidosis|cutaneous sarcoidosis|cutaneous sarcoid|sarcoidosis of zone of skin DOID:13402|EFO:1000767|ICD10:D86.3|Wikipedia:Cutaneous_manifestations_of_sarcoidosis|UMLS:C0036203|NCIT:C34996|SCTID:55941000 owl:Class PR:000002112 biolink:NamedThing vascular endothelial growth factor receptor 2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003473 biolink:NamedThing thoracic cavity artery An artery that is part of a thoracic cavity[cjm]. tmpak2llvmy_mondo_relaxed.owl thoracic artery owl:Class MONDO:0014181 biolink:NamedThing amyotrophic lateral sclerosis type 20 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis type 20|amyotrophic lateral sclerosis caused by mutation in HNRNPA1|ALS20|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 20 OMIM:615426|DOID:0060211|UMLS:C3715156 owl:Class HGNC:5031 biolink:NamedThing HNRNPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001874 biolink:NamedThing discoid A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. tmpak2llvmy_mondo_relaxed.owl disc-shaped|disk-shaped owl:Class HGNC:25985 biolink:NamedThing PIGG tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28862 biolink:NamedThing NIPBL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003476 biolink:NamedThing respiratory system venous blood vessel A vein that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl vein of apparatus respiratorius|respiratory system vein|apparatus respiratorius vein|vein of respiratory system owl:Class UBERON:0035838 biolink:NamedThing esophagogastric junction mucosa mucosa from the lowest portion of the esophagus, just proximal to the stomach. tmpak2llvmy_mondo_relaxed.owl gastro-esophageal junction mucosa owl:Class MONDO:0010656 biolink:NamedThing intellectual disability, X-linked 1 An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. tmpak2llvmy_mondo_relaxed.owl IQSEC2-related intellectual disability|intellectual disability, X-linked 1|MRX|mental retardation, X-linked 1|mental retardation, X-linked type 1|mental retardation, X-linked 78|X-linked intellectual disability 1|IQSEC2|MRX78|X-linked intellectual disability 1/78|IQSEC2-related epilepsy|X-linked intellectual disability 78|MRX1|mental retardation, X-linked 18 OMIM:309530|OMIM:300551|NCIT:C133729|MESH:C567906|GARD:0013221|MESH:C564489 owl:Class HGNC:18398 biolink:NamedThing SMARCAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070134 biolink:NamedThing positive regulation of mitochondrial translational initiation Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl positive regulation of mitochondrial translation initiation owl:Class UBERON:0004934 biolink:NamedThing submucosa of body of stomach A submucosa that is part of a body of stomach [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gastric body submucosa|corpus gastricum (ventriculare) submucosa|body of stomach submucosa|stomach body submucosa|submucosa of corpus gastricum (ventriculare)|submucosa of stomach body|submucosa of gastric body owl:Class MONDO:0013783 biolink:NamedThing microphthalmia, isolated, with coloboma 7 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene. tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in ABCB6|MCOPCB7|microphthalmia, isolated, with coloboma type 7|ABCB6 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 7 OMIM:614497|UMLS:C3281027 owl:Class GO:0060560 biolink:NamedThing developmental growth involved in morphogenesis The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape. tmpak2llvmy_mondo_relaxed.owl differential growth owl:Class HGNC:7784 biolink:NamedThing NFIA tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:450 biolink:NamedThing ALX4 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50514 biolink:NamedThing vasoconstrictor agent Drug used to cause constriction of the blood vessels. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1480 biolink:NamedThing CAPN3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004401 biolink:NamedThing testis refractory cancer Malignant testicular germ cell tumor that is resistant to treatment. tmpak2llvmy_mondo_relaxed.owl refractory testicular cancer|refractory cancer of the testis|refractory malignant testicular germ cell tumor|refractory cancer of testis|refractory testicular carcinoma NCIT:C9077|UMLS:C1377904|DOID:7928 owl:Class MONDO:0005981 biolink:NamedThing tick paralysis Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. tmpak2llvmy_mondo_relaxed.owl SCTID:74225001|DOID:11285|EFO:0007509|GARD:0007771|MESH:D013985|UMLS:C0040197 https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis owl:Class MONDO:0003349 biolink:NamedThing central nervous system leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl central nervous system leiomyosarcoma|leiomyosarcoma of the central nervous system|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|leiomyosarcoma of CNS|leiomyosarcoma of the CNS DOID:5254|NCIT:C6999|UMLS:C1334385 owl:Class GO:0001706 biolink:NamedThing endoderm formation The formation of the endoderm during gastrulation. tmpak2llvmy_mondo_relaxed.owl endoblast formation owl:Class GO:0007492 biolink:NamedThing endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15718 biolink:NamedThing APCDD1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060537 biolink:NamedThing muscle tissue development The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010820 biolink:NamedThing autosomal recessive juvenile Parkinson disease 2 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. tmpak2llvmy_mondo_relaxed.owl Parkinsonism, early-onset, with diurnal fluctuation|PRKN young-onset Parkinson disease|Parkinson disease 2|juvenile parkinsonism|autosomal recessive juvenile Parkinson disease 2|young-onset Parkinson disease caused by mutation in PRKN|Parkinson disease 2, autosomal recessive juvenile|Parkinsonism, early onset, with diurnal fluctuation|PARK2|Parkinson disease, juvenile, autosomal recessive|PDJ|autosomal recessive juvenile Parkinson's disease 2|autosomal recessive juvenile Parkinson disease type 2|JP|Parkinson disease autosomal recessive, early onset|autosomal recessive juvenile Parkinson disease DOID:0060368|OMIM:600116|GARD:0009642|UMLS:C1868675 owl:Class HGNC:8607 biolink:NamedThing PRKN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23228 biolink:NamedThing CPAMD8 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001356 biolink:NamedThing medial circumflex femoral artery The medial circumflex femoral artery (internal circumflex artery, medial femoral circumflex artery) is an artery in the upper thigh that helps supply blood to the neck of the femur. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl arteria circumflexa femoris medialis|medial femoral circumflex artery owl:Class UBERON:0004760 biolink:NamedThing gland of anal canal A gland that is part of an anal canal [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gland of anal canal|gland of anus|anal gland|rectal gland|anal sac owl:Class MONDO:0010036 biolink:NamedThing congenital secretory sodium diarrhea 3 Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. tmpak2llvmy_mondo_relaxed.owl SPINT2 secretory diarrhea|DIAR3|sodium diarrhea, congenital|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|diarrhea 3, secretory sodium, congenital, syndromic|secretory diarrhea caused by mutation in SPINT2|congenital secretory sodium diarrhea 3 with or without other congenital anomalies|congenital secretory sodium diarrhea type 3|congenital secretory sodium diarrhea 3 syndromic ICD10:P78.3|DOID:0060781|OMIM:270420 owl:Class HGNC:11247 biolink:NamedThing SPINT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003969 biolink:NamedThing amphetamine abuse Disorders related or resulting from use of amphetamines. tmpak2llvmy_mondo_relaxed.owl SCTID:84758004|ICD9:305.70|ICD9:305.7|MESH:D019969|DOID:670 owl:Class HGNC:30859 biolink:NamedThing SNRNP200 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007181 biolink:NamedThing serosa of infundibulum of uterine tube A serous membrane that is part of a uterine tube infundibulum. tmpak2llvmy_mondo_relaxed.owl serosa of infundibulum of fallopian tube|serosa of infundibulum of oviduct owl:Class MONDO:0043523 biolink:NamedThing cadmium poisoning Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. tmpak2llvmy_mondo_relaxed.owl poisoning, cadmium|Itai-Itai|Itai Itai|cadmium poisoning|Poisonings, cadmium|cadmium Poisonings MESH:D002105|SCTID:3398004 owl:Class MONDO:0011582 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 1 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. tmpak2llvmy_mondo_relaxed.owl MMDS1|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1|multiple mitochondrial dysfunctions syndrome type 1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|Mmds|multiple mitochondrial dysfunctions syndrome 1|NFU1 deficiency DOID:0080133|UMLS:CN226135|OMIM:605711|ICD10:E88.8|Orphanet:401869|UMLS:C3276432 owl:Class HGNC:7690 biolink:NamedThing NDUFA6 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002220 biolink:NamedThing interstitial cell of pineal gland A cell located between the pinealocytes. tmpak2llvmy_mondo_relaxed.owl FMA:86575 tmeehan 2010-09-02T04:28:41Z cell owl:Class MONDO:0008700 biolink:NamedThing acheiropody Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. tmpak2llvmy_mondo_relaxed.owl ACHP|acheiropodia|acheiropody, Brazilian type|horn-Kolb syndrome|acheiropody OMIM:200500|DOID:0050603|ICD10:Q74.8|Orphanet:931|GARD:0000376|MESH:C536014|SCTID:177504007 owl:Class MONDO:0024538 biolink:NamedThing basal ganglia calcification, idiopathic, 1 tmpak2llvmy_mondo_relaxed.owl basal ganglia calcification, idiopathic, 3, formerly|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, idiopathic, type 1|Fahr disease, familial, formerly|idiopathic basal ganglia calcification 1|IBGC1|ferrocalcinosis, cerebrovascular|basal ganglia calcification, idiopathic, 1|Fahr disease, familial|striopallidodentate calcinosis, autosomal dominant, adult-onset|basal ganglia calcification, idiopathic, 3 UMLS:C0393590|NCIT:C129973|OMIM:213600 owl:Class HGNC:10947 biolink:NamedThing SLC20A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014636 biolink:NamedThing thoracic spinal cord gray matter A gray matter of spinal cord that is part of a thoracic spinal cord. tmpak2llvmy_mondo_relaxed.owl thoracic spinal cord gray matter owl:Class GO:0051674 biolink:NamedThing localization of cell Any process in which a cell is transported to, and/or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl establishment and maintenance of localization of cell|localisation of cell|establishment and maintenance of cell localization|cell localization owl:Class MONDO:0044687 biolink:NamedThing chronic relapsing inflammatory optic neuropathy tmpak2llvmy_mondo_relaxed.owl CRION|chronic recurrent isolated optic neuritis Orphanet:499085 owl:Class MONDO:0022399 biolink:NamedThing retinal ciliopathy due to mutation in the RPGR gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156171 owl:Class HGNC:10295 biolink:NamedThing RPGR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011630 biolink:NamedThing retinitis pigmentosa 28 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. tmpak2llvmy_mondo_relaxed.owl FAM161A retinitis pigmentosa|retinitis pigmentosa 28|retinitis pigmentosa caused by mutation in FAM161A|retinitis pigmentosa type 28|RP28|RP 28 OMIM:606068|DOID:0110365|ICD10:H35.5|UMLS:C1419614|GARD:0010394 https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28 owl:Class HGNC:25808 biolink:NamedThing FAM161A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0002763 biolink:NamedThing positive regulation of myeloid leukocyte differentiation Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. tmpak2llvmy_mondo_relaxed.owl stimulation of myeloid leukocyte differentiation|activation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up regulation of myeloid leukocyte differentiation owl:Class MONDO:0014120 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tmpak2llvmy_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|MDDGA13 UMLS:C3809042|DOID:0111238|OMIM:615287 owl:Class HGNC:15685 biolink:NamedThing B4GAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005400 biolink:NamedThing telencephalon arachnoid mater An arachnoid mater that is part of a telencephalon. tmpak2llvmy_mondo_relaxed.owl telencephalon arachnoid matter owl:Class MONDO:0014117 biolink:NamedThing Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). tmpak2llvmy_mondo_relaxed.owl SBF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease with focally folded myelin|CMT4B3|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease, type 4B3 OMIM:615284|Orphanet:363981|UMLS:C3695063|DOID:0110194|ICD10:G60.0|SCTID:763345008 owl:Class HGNC:10542 biolink:NamedThing SBF1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10360 biolink:NamedThing RPL5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007700 biolink:NamedThing hawkinsinuria Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. tmpak2llvmy_mondo_relaxed.owl 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|4-hydroxyphenylpyruvic acid dioxygenase deficiency|hawkinsinuria|4-HPPD deficiency GARD:0005668|OMIM:140350|MESH:C535845|SCTID:414380008|Orphanet:2118|DOID:0111362|UMLS:C2931042|ICD10:E70.2 https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria owl:Class GO:0005638 biolink:NamedThing lamin filament Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C. tmpak2llvmy_mondo_relaxed.owl type V intermediate filament owl:Class GO:0005652 biolink:NamedThing nuclear lamina The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014639 biolink:NamedThing frontal sulcus A sulcus of brain that is part of a frontal cortex. tmpak2llvmy_mondo_relaxed.owl frontal lobe sulcus|frontal lobe sulci owl:Class UBERON:2002067 biolink:NamedThing upper hypural set Anatomical cluster including hypural 3 and more dorsal hypurals that supports the dorsal series of principal caudal lepidotrichia or rays. The upper hypural set articulates or fuses to ural centra 3, 4 or 5 (polyural terminology) or ural centrum 2 (diural terminology) depending on the teleost subgroup. The upper hypural set is composed of unpaired median bones. tmpak2llvmy_mondo_relaxed.owl upper hypurals owl:Class MONDO:0010342 biolink:NamedThing autism, susceptibility to, X-linked 3 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, X-linked type 3|autism, susceptibility to, X-linked 3|susceptibility to X-linked autism 3|AUTSX3 OMIM:300496 owl:Class HGNC:32698 biolink:NamedThing DUOXA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003639 biolink:NamedThing lung hilum neoplasm A benign or malignant neoplasm that arises from the hilar region of the lung. tmpak2llvmy_mondo_relaxed.owl lung hilum neoplasm|neoplasm of lung hilus|lung hilus neoplasm|lung hilus tumor|neoplasm of hilus of lung|lung hilum tumor|hilar lung tumor|tumor of lung hilus|lung hilus neoplasm (disease)|hilar lung neoplasm DOID:5767|SCTID:126707007|UMLS:C1290358|NCIT:C5671 owl:Class HP:0008066 biolink:NamedThing Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. tmpak2llvmy_mondo_relaxed.owl Blisters|Skin blisters|Skin bullae|Blistering, generalised|Abnormal blistering of the skin|Blistering, generalized|Blister UMLS:C2132198|UMLS:C0241054|UMLS:C2220104 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. peter 2008-04-02T03:54:00Z HP:0007496|HP:0007467|HP:0200038 human_phenotype owl:Class HGNC:15853 biolink:NamedThing ARFGEF2 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000091 biolink:NamedThing human late adulthood stage Adult stage that refers to an adult who is over 45. tmpak2llvmy_mondo_relaxed.owl 45+ years|Middle Aged + Aged owl:Class HsapDv:0000088 biolink:NamedThing human early adulthood stage Adult stage that refers to an adult who is under 45. tmpak2llvmy_mondo_relaxed.owl 19-44 years owl:Class UBERON:0011265 biolink:NamedThing carpometacarpal joint of digit 1 A carpometacarpal joint that connects to metacarpal 1. tmpak2llvmy_mondo_relaxed.owl carpometacarpal joint of thumb|TMJ|carpometacarpal joint of pollex|trapeziometacarpal joint|carpometacarpal joint of the thumb|carpometacarpal joint of digit I owl:Class CHEBI:60809 biolink:NamedThing adjuvant Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself. tmpak2llvmy_mondo_relaxed.owl adjuvants owl:Class HGNC:2295 biolink:NamedThing CP tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11602 biolink:NamedThing TBX3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013761 biolink:NamedThing childhood encephalopathy due to thiamine pyrophosphokinase deficiency tmpak2llvmy_mondo_relaxed.owl THMD5|childhood encephalopathy due to thiamine pyrophosphokinase deficiency|encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Orphanet:293955|OMIM:614458|UMLS:C3280866 owl:Class HGNC:17358 biolink:NamedThing TPK1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006953 biolink:NamedThing ejaculatory duct epithelium The ejaculatory duct epithelium is composed of cuboidal to columnar cells between or through which project the terminal parts of the ducts of the unicellular prostate glands. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008925 biolink:NamedThing cataract 46 juvenile-onset Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. tmpak2llvmy_mondo_relaxed.owl cataract, congenital or juvenile|LEMD2 early-onset non-syndromic cataract|cataract Hutterite type|CTRCT46|cataract 46, juvenile-onset|juvenilae cataract Hutterite type|early-onset non-syndromic cataract caused by mutation in LEMD2|cataract, juvenile, Hutterite type DOID:0110243|ICD10:Q12.0|MESH:C538286|GARD:0001150|Orphanet:98987|OMIM:212500 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type owl:Class MONDO:0007733 biolink:NamedThing holoprosencephaly 3 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. tmpak2llvmy_mondo_relaxed.owl Shh holoprosencephaly|holoprosencephaly type 3|SHH holoprosencephaly|HLP3|holoprosencephaly 3|holoprosencephaly caused by mutation in Shh|holoprosencephaly caused by mutation in SHH|HPE3|Hlp3 OMIM:142945|UMLS:C1840529|MESH:C564181|DOID:0110875 owl:Class MONDO:0019535 biolink:NamedThing drug-induced autoimmune hemolytic anemia Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. tmpak2llvmy_mondo_relaxed.owl drug-induced AIHA SCTID:309742004|Orphanet:90037|ICD10:D59.0 owl:Class MONDO:0013618 biolink:NamedThing craniofacial anomalies and anterior segment dysgenesis syndrome tmpak2llvmy_mondo_relaxed.owl CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome OMIM:614195|UMLS:C3280099 owl:Class MONDO:0010712 biolink:NamedThing panhypopituitarism, X-linked tmpak2llvmy_mondo_relaxed.owl panhypopituitarism X-linked|panhypopituitarism, X-linked|pituitary dwarfism IV, formerly|PHPX|pituitary dwarfism IV (formerly)|pituitary dwarfism IV DOID:0111779|OMIM:312000|MESH:C538613|GARD:0006737|SCTID:237683004 https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked owl:Class HGNC:11199 biolink:NamedThing SOX3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060485 biolink:NamedThing mesenchyme development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. tmpak2llvmy_mondo_relaxed.owl mesenchymal development owl:Class GO:0017099 biolink:NamedThing very-long-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. tmpak2llvmy_mondo_relaxed.owl very long-chain-acyl-CoA dehydrogenase activity owl:Class MONDO:0008516 biolink:NamedThing syndactyly type 5 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. tmpak2llvmy_mondo_relaxed.owl postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion|syndactyly with associated metacarpal and metatarsal fusion|SDTY5|SD5|syndactyly, type 5|syndactyly, type V MESH:C538155|ICD10:Q70.0|ICD10:Q70.2|SCTID:719159004|OMIM:186300|GARD:0005089|Orphanet:93406 https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 owl:Class OBO:CHR_9606-chr2p16.3 biolink:NamedThing chr2p16.3 (Human) tmpak2llvmy_mondo_relaxed.owl 52600000 47500000 hg38 owl:Class UBERON:0001827 biolink:NamedThing secretion of lacrimal gland Aqueous substance secreted by the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl lacrimal fluid|lacrimal gland secretion|tears|lacrimal secretion|tear|tear fluid owl:Class MONDO:0002351 biolink:NamedThing glottis cancer A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. tmpak2llvmy_mondo_relaxed.owl Ca larynx - glottis|malignant neoplasm of the glottis|cancer of glottis|malignant glottis tumor|malignant glottis neoplasm|glottis cancer|malignant neoplasm of glottis|malignant tumor of the glottis|malignant tumor of glottis ICD10:C32.0|NCIT:C3544|SCTID:187841006|DOID:2595|ICD9:161.0|UMLS:C0153483 owl:Class N14f8741a9b9f458f85ace703030c6ba5 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:28369 biolink:NamedThing THOC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005690 biolink:NamedThing Caplan syndrome A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. tmpak2llvmy_mondo_relaxed.owl Caplan's syndrome|Caplan syndrome|rheumatoid pneumoconiosis|Caplan's disease|Caplans syndrome MESH:D002205|DOID:10326|UMLS:C0006915|SCTID:398640008|EFO:0007192 owl:Class NCBITaxon:5501 biolink:NamedThing Coccidioides immitis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002357 biolink:NamedThing hepatic flexure cancer A malignant neoplasm involving the hepatic flexure of colon. tmpak2llvmy_mondo_relaxed.owl malignant tumor of hepatic flexure|malignant hepatic flexure of colon neoplasm|malignant neoplasm of hepatic flexure of colon|malignant neoplasm of hepatic flexure|cancer of hepatic flexure of colon|Ca hepatic flexure - colon|hepatic flexure of colon cancer ICD9:153.0|SCTID:363407001|DOID:260|ICD10:C18.3|UMLS:C0153433 owl:Class MONDO:0013338 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. tmpak2llvmy_mondo_relaxed.owl KARS Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy recessive intermediate B|CMTRIB|RI-CMT type B|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive Intermediate type B|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|RI-CMTB|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth disease, recessive intermediate, B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B ICD10:G60.0|Orphanet:254334|GARD:0012454|DOID:0110204|OMIM:613641|UMLS:C3150897 owl:Class MONDO:0016115 biolink:NamedThing bulbospinal muscular atrophy of adulthood A bulbospinal muscular atrophy that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult|adult bulbospinal muscular atrophy ICD10:G12.2|Orphanet:206707 owl:Class UBERON:0004176 biolink:NamedThing external genitalia The external genitalia are the outer sex organs, such as the penis or vulva in mammals tmpak2llvmy_mondo_relaxed.owl external reproductive organ|external genitalia|external sex organ owl:Class UBERON:4000115 biolink:NamedThing mineralized bone tissue Bone tissue mineralized with hydroxyapatite. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010942 biolink:NamedThing positive regulation of cell death Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005160 biolink:NamedThing vestigial structure A remnant structure from earlier development or evolution. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000588 biolink:NamedThing vestigial A quality inhering in a bearer by virtue of the bearer's being a remnant structure from earlier development or evolution. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011830 biolink:NamedThing lissencephaly due to LIS1 mutation Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. tmpak2llvmy_mondo_relaxed.owl subcortical band heterotopia|lissencephaly, classic|LIS1|PAFAH1B1-related lissencephaly|lissencephaly sequence, isolated|lissencephaly type 1|subcortical laminar heterotopia|lissencephaly 1 ICD10:Q04.3|UMLS:CN228917|OMIM:607432|Orphanet:95232 owl:Class MONDO:0011313 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene. tmpak2llvmy_mondo_relaxed.owl megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|MPPH1|megalencephaly, polymicrogyria, mega corpus callosum syndrome|Meg-PMG-Megacc syndrome|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2 OMIM:603387|MESH:C566381 owl:Class HGNC:8980 biolink:NamedThing PIK3R2 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000140 biolink:NamedThing 46-year-old human stage Middle aged stage that refers to an adult who is over 46 and under 47. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020500 biolink:NamedThing Marburg hemorrhagic fever Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. tmpak2llvmy_mondo_relaxed.owl Green monkey disease|Marburg virus disease|Marburg disease|MHF SCTID:77503002|ICD9:078.89|EFO:0007358|NCIT:C84883|MESH:D008379|MedDRA:10026822|DOID:4327|GARD:0009444|Orphanet:99826|UMLS:C0024788|ICD10:A98.3 https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever owl:Class NCBITaxon:186537 biolink:NamedThing Marburgvirus tmpak2llvmy_mondo_relaxed.owl Marburg-like viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014856 biolink:NamedThing combined oxidative phosphorylation defect type 30 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 30|combined oxidative phosphorylation deficiency type 30|TRMT10C combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|COXPD30 DOID:0111471|EFO:0009038|UMLS:C4310773|OMIM:616974|Orphanet:478042 owl:Class HGNC:26022 biolink:NamedThing TRMT10C tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28093 biolink:NamedThing BBIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013266 biolink:NamedThing intellectual disability, autosomal dominant 20 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|MRD20|chromosome 5Q14.3 deletion syndrome, proximal|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|mental retardation, autosomal dominant type 20|autosomal dominant intellectual disability 20|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|intellectual disability, autosomal dominant type 20|intellectual disability, autosomal dominant 20|mental retardation, autosomal dominant 20|autosomal dominant mental retardation 20|MEF2C autosomal dominant non-syndromic intellectual disability DOID:0070050|OMIM:613443|UMLS:C3150700 owl:Class MONDO:0001204 biolink:NamedThing esophagus sarcoma A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpak2llvmy_mondo_relaxed.owl esophagus sarcoma|sarcoma of esophagus|esophageal sarcoma|sarcoma, esophagus|sarcoma of the esophagus UMLS:C1333466|NCIT:C5341|DOID:1114 owl:Class CHEBI:50427 biolink:NamedThing platelet aggregation inhibitor A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system. tmpak2llvmy_mondo_relaxed.owl platelet aggregation inhibitors owl:Class MONDO:0009650 biolink:NamedThing mucolipidosis type II Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. tmpak2llvmy_mondo_relaxed.owl N-acetylglucosamine 1phosphotransferase deficiency|mucolipidosis II alpha/beta|mucolipidosis type II alpha/beta|ML disorder type 2|mucolipidosis type II|N-acetylglucosamine 1-phosphotransferase deficiency|ML 2 Alpha/Beta|I-cell disease|inclusion cell disease|ML 2|Leroy disease|mucolipidosis II|mucolipidosis 2|I cell disease|GNPTA|mucolipidosis 2 alpha/beta ICD10:E77.0|UMLS:C0020725|OMIM:252500|UMLS:C2673377|Orphanet:576|NCIT:C61270|MESH:C538602|DOID:0080070|GARD:0006749|SCTID:70199000 owl:Class HGNC:29670 biolink:NamedThing GNPTAB tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070330 biolink:NamedThing aromatase activity Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. tmpak2llvmy_mondo_relaxed.owl estrogen synthetase activity owl:Class CHEBI:142163 biolink:NamedThing 24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010288 biolink:NamedThing adrenomyodystrophy Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl adrenomyodystrophy OMIM:300270|UMLS:C1846044|GARD:0000562|MESH:C538051|Orphanet:977|SCTID:763311001 owl:Class MONDO:0044637 biolink:NamedThing infantile-onset generalized dyskinesia with orofacial involvement tmpak2llvmy_mondo_relaxed.owl infantile-onset orofacial-trunk-limbs dyskinesia Orphanet:494526 owl:Class MONDO:0006117 biolink:NamedThing breast diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma. tmpak2llvmy_mondo_relaxed.owl diffuse large B-cell lymphoma of breast|breast diffuse large B-cell lymphoma|breast DLBCL EFO:1000144|UMLS:C1511306|NCIT:C40375 owl:Class HP:0000830 biolink:NamedThing Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025821 human_phenotype owl:Class MONDO:0012890 biolink:NamedThing pontocerebellar hypoplasia type 2B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|pontocerebellar hypoplasia, type 2B|pontocerebellar hypoplasia type 2B|TSEN2 non-syndromic pontocerebellar hypoplasia|PCH2B OMIM:612389|UMLS:C2676466|MESH:C567325|DOID:0060268 owl:Class HGNC:28422 biolink:NamedThing TSEN2 tmpak2llvmy_mondo_relaxed.owl owl:Class Nd69cecbf56444de89c1805e5403174a9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014380 biolink:NamedThing colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. tmpak2llvmy_mondo_relaxed.owl microphthalmia-coloboma-rhizomelic skeletal dysplasia|MCSKS|MCOPS14|microphthalmia, syndromic 14|microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic type 14|microphthalmia/coloboma and skeletal dysplasia syndrome|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia ICD10:Q87.5|Orphanet:424099|UMLS:C4014540|OMIM:615877 owl:Class HGNC:6758 biolink:NamedThing MAB21L2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002093 biolink:NamedThing Respiratory insufficiency tmpak2llvmy_mondo_relaxed.owl Respiratory impairment|Respiratory function loss|progressive respiratory failure UMLS:C0035229|MSH:D012131|UMLS:C4020855|SNOMEDCT_US:409623005 HP:0005937|HP:0004893|HP:0006542 human_phenotype owl:Class MONDO:0044324 biolink:NamedThing Al Kaissi syndrome Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}). tmpak2llvmy_mondo_relaxed.owl AL KAISSI syndrome|Growth retardation, spine malformation, dysmorphic facies, and developmental delay|ALKAS UMLS:CN502749|OMIM:617694 owl:Class HGNC:7525 biolink:NamedThing MUSK tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0055123 biolink:NamedThing digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001570 biolink:NamedThing terrestrial ecoregion An ecoregion which is located on a landmass. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2939 biolink:NamedThing DNA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014783 biolink:NamedThing preimplantation embryonic lethality 1 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene. tmpak2llvmy_mondo_relaxed.owl preimplantation embryonic lethality 1; PREMBL1|preimplantation embryonic lethality 1|Prembl|PREMBL1|preimplantation embryonic lethality caused by mutation in TLE6|TLE6 preimplantation embryonic lethality|preimplantation embryonic lethality type 1 UMLS:C4225197|OMIM:616814 owl:Class MONDO:0010343 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl ASPGX2|susceptibility to X-linked asperger syndrome 2|ASPERGER syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, type 2 OMIM:300497 owl:Class HGNC:14287 biolink:NamedThing NLGN4X tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014914 biolink:NamedThing Dias-Logan syndrome tmpak2llvmy_mondo_relaxed.owl intellectual developmental disorder with persistence of fetal HEMOGLOBIN|Dias-Logan syndrome; DILOS|Dias-Logan syndrome|DILOS|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|intellectual developmental disorder with persistence of fetal Hemoglobin|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin UMLS:C4310833|OMIM:617101 owl:Class HGNC:13221 biolink:NamedThing BCL11A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003218 biolink:NamedThing ovary septum Septum that divides the ovary, the basal portion of a carpel or group of fused carpels, that encloses the ovule(s)[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:427 biolink:NamedThing ALK tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005845 biolink:NamedThing caudal segment of spinal cord A spinal cord segment that adjacent_to a caudal region. tmpak2llvmy_mondo_relaxed.owl pars coccygea medullae spinalis|segmenta coccygea|coccygeal segments of spinal cord [1-3]|coccygeal segment of spinal cord|segmenta coccygea medullae spinalis [1-3] owl:Class CHEBI:50176 biolink:NamedThing keratolytic drug A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases. tmpak2llvmy_mondo_relaxed.owl skin-peeling agent|keratolytic agent|keratolytic drugs|desquamating agent owl:Class MONDO:0004527 biolink:NamedThing congenital granular cell tumor An instance of granular cell tumor that is present from birth. tmpak2llvmy_mondo_relaxed.owl congenital granular cell tumor DOID:8303 owl:Class MONDO:0014479 biolink:NamedThing porokeratosis 8, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl POROK8|porokeratosis 8, disseminated superficial actinic type OMIM:616063|UMLS:C4015128 owl:Class HGNC:4277 biolink:NamedThing GJA3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:166 biolink:NamedThing ACTN4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29099 biolink:NamedThing TELO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004325 biolink:NamedThing testicular thecoma A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl thecoma of testis|testis thecoma DOID:7676|UMLS:C1515299|NCIT:C39952 owl:Class CL:0002153 biolink:NamedThing corneocyte The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus. tmpak2llvmy_mondo_relaxed.owl FMA:68650|BTO:0001943 tmeehan 2010-08-24T10:53:03Z cell owl:Class HGNC:14282 biolink:NamedThing IRF2BPL tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042827 biolink:NamedThing platelet dense granule Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. tmpak2llvmy_mondo_relaxed.owl platelet dense body|bull's eye body owl:Class UBERON:0005277 biolink:NamedThing dorsal skin of toe A dorsal skin of digit that is part of a pedal digit. tmpak2llvmy_mondo_relaxed.owl dorsal toe skin|skin of dorsal part of toe|subdivision of skin of dorsal part of toe owl:Class Nacb6ba04d4754367a72c51374cdf9b12 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009235 biolink:NamedThing familial benign flecked retina Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. tmpak2llvmy_mondo_relaxed.owl FRFB|FLECK retina, familial benign UMLS:C1856718|OMIM:228980|ICD10:H35.5|MESH:C565564|Orphanet:363989|DOID:0111677 owl:Class HGNC:9038 biolink:NamedThing PLA2G5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4845 biolink:NamedThing HCN1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11072 biolink:NamedThing Japanese encephalitis virus tmpak2llvmy_mondo_relaxed.owl Japanese encephalitis (JE) virus|Japanese encephalitis virus JE|Japanese encephalitis virus JEV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011632 biolink:NamedThing amyotrophic lateral sclerosis type 21 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene. tmpak2llvmy_mondo_relaxed.owl vocal cord and pharyngeal dysfunction with distal myopathy|amyotrophic lateral sclerosis 21|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|myopathy, distal, 2, formerly|amyotrophic lateral sclerosis caused by mutation in MATR3|ALS21|myopathy, distal, 2|amyotrophic lateral sclerosis type 21|MATR3 amyotrophic lateral sclerosis NCIT:C168755|OMIM:606070|DOID:0060212 owl:Class HGNC:4601 biolink:NamedThing GRN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019137 biolink:NamedThing non-24-hour sleep-wake syndrome Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. tmpak2llvmy_mondo_relaxed.owl hypernychthemeral syndrome|non 24 hour sleep wake disorder|non-24|circadian rhythm sleep disorder, free running type|circadian rhythm sleep disorder, free-running type ICD10:G47.24|Orphanet:73267|ICD10:G47.2|SCTID:230496009|GARD:0010949 owl:Class UBERON:0003485 biolink:NamedThing vagina sebaceous gland A sebaceous gland that is part of a vagina [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl sebaceous gland of vagina owl:Class MONDO:0014573 biolink:NamedThing Cole-Carpenter syndrome 2 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. tmpak2llvmy_mondo_relaxed.owl CLCRP2|COLE-CARPENTER syndrome 2|Cole-Carpenter syndrome type 2|Cole-Carpenter syndrome caused by mutation in SEC24D|SEC24D Cole-Carpenter syndrome|Cole-Carpenter syndrome 2 OMIM:616294|UMLS:C4225382 owl:Class HGNC:10706 biolink:NamedThing SEC24D tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006685 biolink:NamedThing Endocardial fibrosis The presence of excessive connective tissue in the endocardium. tmpak2llvmy_mondo_relaxed.owl Endomyocardial fibrosis MSH:D004719|SNOMEDCT_US:398716006|UMLS:C0553980 HP:0005169 human_phenotype owl:Class MONDO:0014993 biolink:NamedThing myofibrillar myopathy 8 Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. tmpak2llvmy_mondo_relaxed.owl myofibrillar myopathy (disease) caused by mutation in PYROXD1|myopathy, myofibrillar, 8|MFM8|myofibrillar myopathy 8|PYROXD1 myofibrillar myopathy (disease)|myopathy, myofibrillar, type 8 UMLS:C4310645|DOID:0080308|OMIM:617258 owl:Class NCBITaxon:28901 biolink:NamedThing Salmonella enterica tmpak2llvmy_mondo_relaxed.owl Salmonella enterica ser. choleraesuis|Bacillus cholerae-suis|Salmonella choleraesuis|Salmonella cholerae-suis PMID:10939679|GC_ID:11|PMID:15653930|PMID:10319519|PMID:15653929 NCBITaxon:2303564|NCBITaxon:2419823|NCBITaxon:2364699|NCBITaxon:2303574|NCBITaxon:2364680|NCBITaxon:2303561|NCBITaxon:2364750|NCBITaxon:2364662|NCBITaxon:2485241|NCBITaxon:2485988|NCBITaxon:2364738|NCBITaxon:2364691|NCBITaxon:2305023|NCBITaxon:2486728|NCBITaxon:2364717|NCBITaxon:2364707|NCBITaxon:2364739|NCBITaxon:2364698|NCBITaxon:2339226|NCBITaxon:2485993|NCBITaxon:2483348|NCBITaxon:2364694|NCBITaxon:2516339|NCBITaxon:2516345|NCBITaxon:2303566|NCBITaxon:2516335|NCBITaxon:2516337|NCBITaxon:2364733|NCBITaxon:2485986|NCBITaxon:2305028|NCBITaxon:2303570|NCBITaxon:2305031|NCBITaxon:2516349|NCBITaxon:2478514|NCBITaxon:2478512|NCBITaxon:2303557|NCBITaxon:2478517|NCBITaxon:2516350|NCBITaxon:2364725|NCBITaxon:2364716|NCBITaxon:2485995|NCBITaxon:2307001|NCBITaxon:2485987|NCBITaxon:2485244|NCBITaxon:2305033|NCBITaxon:2306016|NCBITaxon:2303562|NCBITaxon:2447895|NCBITaxon:2364722|NCBITaxon:2364708|NCBITaxon:2364734|NCBITaxon:2485248|NCBITaxon:2516348|NCBITaxon:2485251|NCBITaxon:2364676|NCBITaxon:2485247|NCBITaxon:2305020|NCBITaxon:2483350|NCBITaxon:2305460|NCBITaxon:2516341|NCBITaxon:2303573|NCBITaxon:2478522|NCBITaxon:2305024|NCBITaxon:2305032|NCBITaxon:2364700|NCBITaxon:2485252|NCBITaxon:2478511|NCBITaxon:2364760|NCBITaxon:2486725|NCBITaxon:2419814|NCBITaxon:2419820|NCBITaxon:2364692|NCBITaxon:2364709|NCBITaxon:2364761|NCBITaxon:2485249|NCBITaxon:2364693|NCBITaxon:2516333|NCBITaxon:2364767|NCBITaxon:2303555|NCBITaxon:2485240|NCBITaxon:2486731|NCBITaxon:2303572|NCBITaxon:2364681|NCBITaxon:2485253|NCBITaxon:2306987|NCBITaxon:2303568|NCBITaxon:2485992|NCBITaxon:2485256|NCBITaxon:2364672|NCBITaxon:2339225|NCBITaxon:2303559|NCBITaxon:2305451|NCBITaxon:2516342|NCBITaxon:2364735|NCBITaxon:2478516|NCBITaxon:2419821|NCBITaxon:2364746|NCBITaxon:2516347|NCBITaxon:2364732|NCBITaxon:2364701|NCBITaxon:2419822|NCBITaxon:2305022|NCBITaxon:2303554|NCBITaxon:2364682|NCBITaxon:591|NCBITaxon:2305029|NCBITaxon:2364720|NCBITaxon:2303558|NCBITaxon:2364753|NCBITaxon:2339223|NCBITaxon:2307000|NCBITaxon:2419811|NCBITaxon:2478518|NCBITaxon:2486973|NCBITaxon:2315835|NCBITaxon:2516343|NCBITaxon:2486729|NCBITaxon:2364706|NCBITaxon:2478520|NCBITaxon:2303569|NCBITaxon:2516332|NCBITaxon:2305021|NCBITaxon:2306988|NCBITaxon:2485994|NCBITaxon:2478527|NCBITaxon:2303565|NCBITaxon:2305030|NCBITaxon:2419813|NCBITaxon:2364710|NCBITaxon:2364724|NCBITaxon:2303563|NCBITaxon:2478525|NCBITaxon:2364671|NCBITaxon:2364768|NCBITaxon:2364715|NCBITaxon:2485990|NCBITaxon:2306989|NCBITaxon:2364674|NCBITaxon:2419818|NCBITaxon:2364714|NCBITaxon:2364751|NCBITaxon:2364729|NCBITaxon:2364675|NCBITaxon:2305461|NCBITaxon:2478513|NCBITaxon:2486730|NCBITaxon:2305026|NCBITaxon:2364726|NCBITaxon:2516336|NCBITaxon:2364754|NCBITaxon:2339222|NCBITaxon:2364718|NCBITaxon:2364712|NCBITaxon:2485243|NCBITaxon:2419824|NCBITaxon:2364731|NCBITaxon:2364728|NCBITaxon:2419819|NCBITaxon:2478528|NCBITaxon:2516340|NCBITaxon:2516344|NCBITaxon:2364677|NCBITaxon:2419812|NCBITaxon:2485989|NCBITaxon:2486726|NCBITaxon:2478526|NCBITaxon:2479845|NCBITaxon:2485996|NCBITaxon:2364711|NCBITaxon:2364730|NCBITaxon:2485242|NCBITaxon:2485246|NCBITaxon:2305025|NCBITaxon:2303567|NCBITaxon:2419817|NCBITaxon:2306017|NCBITaxon:2340792|NCBITaxon:2303560|NCBITaxon:2485991|NCBITaxon:2364690|NCBITaxon:2340790|NCBITaxon:2320430|NCBITaxon:2478510|NCBITaxon:2364765|NCBITaxon:2419816|NCBITaxon:2478521|NCBITaxon:2516346|NCBITaxon:2364727|NCBITaxon:2486723|NCBITaxon:2419815|NCBITaxon:2303556|NCBITaxon:2486727|NCBITaxon:2364740|NCBITaxon:2516338|NCBITaxon:2483349|NCBITaxon:2306999|NCBITaxon:2339224|NCBITaxon:2364685|NCBITaxon:2364696|NCBITaxon:2305027|NCBITaxon:2478523|NCBITaxon:2516334|NCBITaxon:2486724|NCBITaxon:2320429|NCBITaxon:2305034|NCBITaxon:2364686|NCBITaxon:2478515|NCBITaxon:2478519|NCBITaxon:2303575 ncbi_taxonomy owl:Class MONDO:0013340 biolink:NamedThing Parkinson disease 5, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. tmpak2llvmy_mondo_relaxed.owl UCHL1 young-onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 5|Parkinson disease 5, autosomal dominant, susceptibility to|PARK5|young-onset Parkinson disease caused by mutation in UCHL1 UMLS:C3150899|OMIM:613643 owl:Class HGNC:13486 biolink:NamedThing USP27X tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009953 biolink:NamedThing leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. tmpak2llvmy_mondo_relaxed.owl sialyl-Lewis X defect|lad-type II|SLC35C1-CDG (CDG-IIc)|CDG IIc|leukocyte adhesion deficiency, type II|Rambam-Hasharon syndrome|leukocyte adhesion deficiency, type 2|congenital disorder of glycosylation, type IIc|LAD2|leukocyte adhesion deficiency type 2|CDG 2C|CDG syndrome type IIc|lad-II|leukocyte adhesion deficiency type II|CDGIIc|RHS|CDG-IIc|congenital disorder of glycosylation type IIC|CDG2C|SLC35C1-CDG SCTID:234583001|NCIT:C4690|OMIM:266265|GARD:4634|UMLS:C0398739|MESH:C535755|DOID:0070255|GARD:0004634|Orphanet:99843|ICD10:D84.8 owl:Class CHEBI:33582 biolink:NamedThing carbon group molecular entity tmpak2llvmy_mondo_relaxed.owl carbon group molecular entities|carbon group molecular entity owl:Class PR:000028527 biolink:NamedThing casein derived peptide tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016836 biolink:NamedThing 16p13.11 microdeletion syndrome 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. tmpak2llvmy_mondo_relaxed.owl Del(16)(p13.11)|monosomy 16p13.11 ICD10:Q93.5|UMLS:C4304596|SCTID:719577000|Orphanet:261236|UMLS:CN202172 owl:Class MONDO:0014790 biolink:NamedThing TMEM199-CDG tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation type 2p|CDG2P|congenital disorder of glycosylation type IIp|CDG syndrome type IIp|congenital disorder of glycosylation, type IIp|CDG-IIp|CDG IIp|carbohydrate deficient glycoprotein syndrome type IIp OMIM:616829|DOID:0070268|Orphanet:466703|UMLS:C4225190 owl:Class MONDO:0017201 biolink:NamedThing Spasmus nutans Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. tmpak2llvmy_mondo_relaxed.owl Spasmus nutans|Spasmus nutans (disease) Spasmus nutans (disease) HP:0010533|Orphanet:279882|SCTID:400948003|ICD10:F98.4|MedDRA:10059593|UMLS:C1527306 owl:Class MONDO:0013615 biolink:NamedThing craniosynostosis and dental anomalies tmpak2llvmy_mondo_relaxed.owl Kreiborg-Pakistani syndrome|CRSDA|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies ICD10:Q87.0|OMIM:614188|UMLS:C3280073|Orphanet:284149 owl:Class HGNC:5967 biolink:NamedThing IL11RA tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001053 biolink:NamedThing saline aerosol environment An environmental system which has its properties and dynamics determined by a saline aerosol. tmpak2llvmy_mondo_relaxed.owl owl:Class Nb2c7f8c7ef94496194675ca1e218ffc1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010947 biolink:NamedThing Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. tmpak2llvmy_mondo_relaxed.owl BDCHS|membranous obstruction of the inferior vena cava|membranous obstruction of Inferior vena cava|Budd-Chiari syndrome Orphanet:131|MESH:D006502|MedDRA:10006537|GARD:0005968|OMIM:600880|SCTID:82385007|UMLS:C0856761|ICD10:I82.0|ICD9:453.0 https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome owl:Class MONDO:0007173 biolink:NamedThing atrial septal defect 7 Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. tmpak2llvmy_mondo_relaxed.owl ASD7|ASD with or without atrioventricular conduction defects|atrial heart septal defect caused by mutation in NKX2-5|atrial heart septal defect type 7|NKX2-5 atrial heart septal defect|atrial septal defect 7 with or without atrioventricular conduction defects|atrial septal defect-atrioventricular conduction defects syndrome|atrial septal defect 7, with or without AV conduction defects OMIM:108900|UMLS:C3502353|DOID:0110112|ICD10:Q21.1|Orphanet:1479 owl:Class MONDO:0014323 biolink:NamedThing retinitis pigmentosa 68 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 68|RP68|SLC7A14 retinitis pigmentosa|retinitis pigmentosa caused by mutation in SLC7A14|retinitis pigmentosa type 68 OMIM:615725|DOID:0110374|ICD10:H35.5|UMLS:C3810380 owl:Class HGNC:29326 biolink:NamedThing SLC7A14 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0011001 biolink:NamedThing spinal cord motor neuron A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16391 biolink:NamedThing CARD9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005691 biolink:NamedThing cardiovirus infectious disease Infections caused by viruses of the genus cardiovirus, family picornaviridae. tmpak2llvmy_mondo_relaxed.owl infection, Cardiovirus|Cardiovirus infection|infections, Cardiovirus UMLS:C0206617|MESH:D018188|EFO:0007194 owl:Class HGNC:26169 biolink:NamedThing CTC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013135 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 5 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. tmpak2llvmy_mondo_relaxed.owl FHL5|hemophagocytic lymphohistiocytosis, familial, type 5|genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|HLH5|familial hemophagocytic lymphohistiocytosis type 5|STXBP2 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 5|HPLH5 MESH:C567752|UMLS:C2751293|DOID:0110925|OMIM:613101 owl:Class HGNC:11445 biolink:NamedThing STXBP2 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0009034 biolink:NamedThing dendritic cell of appendix A dendritic cell that is located in a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl appendix dendritic cell|dendritic cell of vermiform appendix|dendritic cell of appendix vermiformis owl:Class ENVO:01000155 biolink:NamedThing organic material Environmental material derived from living organisms and composed primarily of one or more biomacromolecules. tmpak2llvmy_mondo_relaxed.owl biomass owl:Class MONDO:0000980 biolink:NamedThing aortic atherosclerosis A atherosclerosis that involves the aorta. tmpak2llvmy_mondo_relaxed.owl aorta atherosclerosis|aortic atherosclerosis|atherosclerosis of aorta|aortic atherosclerosis (disease) aortic atherosclerosis (disease) DOID:10230|HP:0012397|ICD10:I70.0|SCTID:81817003|ICD9:440.0|UMLS:C0155733 owl:Class MONDO:0001099 biolink:NamedThing lactocele Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice. tmpak2llvmy_mondo_relaxed.owl galactocele|lacteal cyst|Galactocoele DOID:10686|ICD9:611.5|SCTID:42385006|MESH:C535998|ICD10:N64.89|NCIT:C3515|GARD:0008401 owl:Class HGNC:7 biolink:NamedThing A2M tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q2 biolink:NamedThing chr5q2 (Human) tmpak2llvmy_mondo_relaxed.owl 131200000 98900000 hg38 owl:Class UBERON:0006059 biolink:NamedThing falx cerebri The falx cerebri, also known as the cerebral falx, so named from its sickle-like form, is a strong, arched fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. It is narrow in front, where it is attached to the crista galli of the ethmoid; and broad behind, where it is connected with the upper surface of the tentorium cerebelli. Its upper margin is convex, and attached to the inner surface of the skull in the middle line, as far back as the internal occipital protuberance; it contains the superior sagittal sinus. Its lower margin is free and concave, and contains the inferior sagittal sinus. The falx cerebri is known to calcify with age. tmpak2llvmy_mondo_relaxed.owl cerebral falx owl:Class MONDO:0013166 biolink:NamedThing GABA aminotransferase deficiency Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. tmpak2llvmy_mondo_relaxed.owl gamma-aminobutyric acid transaminase deficiency|GABA aminotransferase deficiency|4 alpha aminobutyrate transaminase deficiency|gamma aminobutyrate transaminase deficiency|GABAT|GABA-transaminase deficiency|GABA transaminase deficiency|ABAT|gamma aminobutyric acid transaminase deficiency|gamma-amino butyric acid transaminase deficiency ICD10:E72.8|OMIM:613163|SCTID:237941007|HGNC:23|Orphanet:2066|UMLS:C0342708|GARD:0000194|DOID:0060174|MESH:C535407 owl:Class GO:0003867 biolink:NamedThing 4-aminobutyrate transaminase activity Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. tmpak2llvmy_mondo_relaxed.owl 4-aminobutyrate aminotransferase activity|4-aminobutanoate transaminase activity|GABA transferase activity|GABA aminotransferase activity|gamma-aminobutyrate aminotransaminase activity|GABA transaminase activity|4-aminobutyric acid aminotransferase activity|gamma-aminobutyric acid transaminase activity|glutamate-succinic semialdehyde transaminase activity|gamma-amino-N-butyrate transaminase activity|beta-alanine aminotransferase|gamma-aminobutyrate transaminase activity|gamma-aminobutyric transaminase activity|aminobutyrate transaminase activity|gamma-aminobutyric acid aminotransferase activity|aminobutyrate aminotransferase activity owl:Class NCBITaxon:10912 biolink:NamedThing Rotavirus tmpak2llvmy_mondo_relaxed.owl Rotaviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012481 biolink:NamedThing mevalonic aciduria Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. tmpak2llvmy_mondo_relaxed.owl mevalonic aciduria|Mevalonicaciduria|HIDS|hyperimmunoglobulin D with periodic fever syndrome|complete mevalonate kinase deficiency|MKD|MEVA|MVA MedDRA:10072219|Orphanet:29|DOID:0050452|UMLS:C1959626|SCTID:718558008|OMIM:610377|GARD:0003588|NCIT:C84890|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria owl:Class MONDO:0009309 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene. tmpak2llvmy_mondo_relaxed.owl chronic granulomatous disease caused by mutation in NCF1|NCF1 chronic granulomatous disease|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1|CDG1|CGD, autosomal recessive cytochrome B-positive, type 1|Ncf1, deficiency of|p47-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf1 deficiency|soluble oxidase component II, deficiency of|neutrophil cytosol Factor 1, deficiency of|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|Soc2, deficiency of DOID:0070192|UMLS:C1856251|OMIM:233700|MESH:C565532 owl:Class MONDO:0014796 biolink:NamedThing autosomal recessive early-onset Parkinson disease 23 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. tmpak2llvmy_mondo_relaxed.owl Parkinson disease 23, autosomal recessive early-onset|PARK23|VPS13C young-onset Parkinson disease|autosomal recessive early-onset Parkinson disease 23|autosomal recessive early-onset Parkinson's disease 23|autosomal recessive early-onset Parksinson disease type 23|young-onset Parkinson disease caused by mutation in VPS13C OMIM:616840|UMLS:C4225186|DOID:0060896|ICD10:G20 owl:Class HGNC:23594 biolink:NamedThing VPS13C tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4948 biolink:NamedThing HLA-DRB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004385 biolink:NamedThing adult xanthogranuloma A xanthogranuloma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult xanthogranuloma|xanthogranuloma of adults NCIT:C27514|DOID:7875|UMLS:C1332220 owl:Class MONDO:0013196 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 8 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. tmpak2llvmy_mondo_relaxed.owl EPCAM hereditary nonpolyposis colon cancer|HNPCC8|hereditary nonpolyposis colon cancer caused by mutation in EPCAM|colorectal cancer, hereditary nonpolyposis, type 8 OMIM:613244|MESH:C567685|UMLS:C2750471|DOID:0070270 owl:Class ENVO:01000342 biolink:NamedThing montane An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004214 biolink:NamedThing upper leg nerve A nerve that is part of a hindlimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb stylopod nerve|thigh RELATED|lower extremity stylopod nerve|hindlimb stylopod nerve owl:Class HP:0000316 biolink:NamedThing Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). tmpak2llvmy_mondo_relaxed.owl Widely spaced eyes|Excessive orbital separation|Increased distance between eyes|Increased interpupillary distance|Wide-set eyes|Increased distance between eye sockets|Widened interpupillary distance|Ocular hypertelorism SNOMEDCT_US:22006008|UMLS:C0020534|SNOMEDCT_US:194021007|MSH:D006972 HP:0007871|HP:0002001|HP:0000578|HP:0004657 human_phenotype owl:Class GO:0072376 biolink:NamedThing protein activation cascade A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. tmpak2llvmy_mondo_relaxed.owl protein activation pathway|protein activitory cascade owl:Class MONDO:0000222 biolink:NamedThing seminal vesicle acute gonorrhea Acute form of gonococcal seminal vesiculitis. tmpak2llvmy_mondo_relaxed.owl acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute DOID:0050004|SCTID:65049003|UMLS:C0153194 owl:Class ENVO:01001308 biolink:NamedThing hydroform A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000982 biolink:NamedThing water flow process A process during which a volume of water is transported due to a disequilibria in physical forces. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014867 biolink:NamedThing spinocerebellar ataxia 43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. tmpak2llvmy_mondo_relaxed.owl SCA43|spinocerebellar ataxia type 43|autosomal dominant cerebellar ataxia caused by mutation in MME|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43|spinocerebellar ataxia 43; SCA43 EFO:0009060|Orphanet:497764|DOID:0111745|OMIM:617018|UMLS:C4310763 owl:Class MONDO:0007453 biolink:NamedThing maturity-onset diabetes of the young type 2 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. tmpak2llvmy_mondo_relaxed.owl MODY2|diabetes mellitus MODY type 2|maturity-onset diabetes of the young (disease) caused by mutation in GCK|glucokinase-associated diabetes mellitus|MODY, glucokinase-related|MODY 2 monogenic diabetes type 2|maturity-onset diabetes of the young, type 2|maturity onset diabetes of the Young, type 2|MODY, type 2|GCK maturity-onset diabetes of the young (disease)|GCK-associated diabetes mellitus|MODY type 2|type 2 maturity-onset diabetes of the young|MODY glucokinase-related DOID:0111100|SCTID:237604008|NCIT:C129741|GARD:0010657|OMIM:125851 https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 owl:Class MONDO:0013720 biolink:NamedThing complement component 4b deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. tmpak2llvmy_mondo_relaxed.owl C4BD|complement component 4B deficiency|C4B deficiency|classic complement early component deficiency caused by mutation in C4B|C4B classic complement early component deficiency|complement component 4b deficiency DOID:0060298|OMIM:614379|UMLS:C3280641|ICD10:D84.1 owl:Class HGNC:1324 biolink:NamedThing C4B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004915 biolink:NamedThing sphincter of hepatopancreatic ampulla muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through the ampulla of Vater into the second part of the duodenum. Relaxed by the hormone Cholecystokinin (CCK) via vasoactive intestinal polypeptide (VIP).[WP]. tmpak2llvmy_mondo_relaxed.owl Oddi's sphincter|sphincter of ampulla of vater|musculus sphincter ampullae hepatopancreatica|hepatopancreatic ampullary sphincter|sphincter of Oddi|musculus sphincter ampullae owl:Class HGNC:23419 biolink:NamedThing KIFBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016657 biolink:NamedThing 8p11.2 deletion syndrome 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl Del(8)(p11.2)|monosomy 8p11.2 ICD10:Q93.5|UMLS:CN201887|UMLS:C4304505|SCTID:719646006|Orphanet:251066 owl:Class GO:0019098 biolink:NamedThing reproductive behavior The specific behavior of an organism that is associated with reproduction. tmpak2llvmy_mondo_relaxed.owl multicellular organism reproductive behavior|multi-organism reproductive behavior|reproductive behaviour|single-organism reproductive behavior|reproductive behavior in a multicellular organism owl:Class HGNC:16808 biolink:NamedThing UBR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014967 biolink:NamedThing heterotaxy, visceral, 8, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. tmpak2llvmy_mondo_relaxed.owl heterotaxy, visceral, 8, autosomal; HTX8|heterotaxy, visceral, 8, autosomal|PKD1L1 visceral heterotaxy|HTX8|visceral heterotaxy caused by mutation in PKD1L1 UMLS:C4310668|OMIM:617205 owl:Class HGNC:18053 biolink:NamedThing PKD1L1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006940 biolink:NamedThing regulation of smooth muscle contraction Any process that modulates the frequency, rate or extent of smooth muscle contraction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004462 biolink:NamedThing extrahepatic bile duct cystadenoma A mucinous cystic neoplasm that arises from the extrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl cystadenoma of the extrahepatic bile duct|extrahepatic bile duct cystadenoma|cystadenoma of extrahepatic bile duct|extrahepatic bile duct mucinous cystic neoplasm DOID:8105|UMLS:C1333504|NCIT:C5851 owl:Class UBERON:0002457 biolink:NamedThing intersomitic artery The small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries tmpak2llvmy_mondo_relaxed.owl intersegmental arteries|intersegmental artery owl:Class HGNC:8940 biolink:NamedThing PHYH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100085 biolink:NamedThing cancer of long bone of upper limb A cancer that involves the upper limb long bone. tmpak2llvmy_mondo_relaxed.owl malignant upper limb long bone neoplasm|cancer of long bone of upper extremity|cancer of fore limb long bone|cancer of upper extremity long bone|cancer of long bone of forelimb|malignant neoplasm of upper limb long bone|long bones of upper limb cancer|cancer of long bone of fore limb http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014230 biolink:NamedThing candidiasis, familial, 8 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpak2llvmy_mondo_relaxed.owl chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, type 8|candidiasis, familial, 8|CANDF8|TRAF3IP2 chronic mucocutaneous candidiasis (disease) UMLS:C3714992|OMIM:615527 owl:Class MONDO:0100450 biolink:NamedThing CAPN5 vitreoretinopathy An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients. tmpak2llvmy_mondo_relaxed.owl ADNIV|vitreoretinopathy, neovascular inflammatory|autosomal dominant neovascular inflammatory vitreoretinopathy|VRNI|CAPN5 vitreoretinopathy|retinitis proliferans|proliferative vitreoretinopathy|vitreoretinopathy, neovascular inflammatory, autosomal dominant owl:Class HGNC:1482 biolink:NamedThing CAPN5 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002507 biolink:NamedThing langerin-positive lymph node dendritic cell A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-01-21T01:57:00Z cell owl:Class UBERON:0001148 biolink:NamedThing median nerve A nerve of the arm that originates from the brachial plexus and is formed from parts of the medial and lateral cords of the brachial plexus, and continues down the arm to enter the forearm with the brachial artery. It originates from the brachial plexus with roots from C5, C6, C7, C8 & T1. tmpak2llvmy_mondo_relaxed.owl nervus medianus owl:Class MONDO:0000987 biolink:NamedThing cholesterolosis of gallbladder A disorder characterized by a change in the gallbladder wall due to excess cholesterol. tmpak2llvmy_mondo_relaxed.owl strawberry gallbladder DOID:10254|SCTID:61565001|ICD10:K82.4|UMLS:C0152456|ICD9:575.6 owl:Class MONDO:0011435 biolink:NamedThing microcephaly 2, primary, autosomal recessive, with or without cortical malformations tmpak2llvmy_mondo_relaxed.owl microcephaly 2, primary, autosomal recessive, with or without cortical malformations|MCPH2 MESH:C565794|UMLS:C1858535|OMIM:604317|DOID:0070293 owl:Class MONDO:0002815 biolink:NamedThing acute myocarditis The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. tmpak2llvmy_mondo_relaxed.owl myocarditis, acute ICD10:I40.9|ICD9:422.90|UMLS:C0155686|ICD10:I40|SCTID:46701001|DOID:3951|NCIT:C35206|ICD9:422.99|ICD9:422 owl:Class GO:0060099 biolink:NamedThing regulation of phagocytosis, engulfment Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21699 biolink:NamedThing CERKL tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001854 biolink:NamedThing fish food product analog tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MFOMD_0000107 biolink:NamedThing compulsion The need to perform acts or to dwell on thoughts to reduce anxiety. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010690 biolink:NamedThing congenital stationary night blindness 1A Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness type 1A|night blindness, congenital stationary, type 1A|congenital stationary night blindness 1A|congenital stationary night blindness caused by mutation in NYX|NBMI|nyctalopia|congenital stationary night blindness with myopia|NYX congenital stationary night blindness|complete CSNB X-linked|congenital stationary night blindness 1A X-linked|myopia-night blindness|hemeralopia-myopia|night blindness, congenital stationary, with myopia|CSNB, complete, X-linked|CSNB1A DOID:0110870|OMIM:310500 owl:Class UBERON:0004674 biolink:NamedThing facial nerve root A nerve root that extends_fibers_into a facial nerve. tmpak2llvmy_mondo_relaxed.owl central part of facial nerve|facial neural root|root of facial nerve|facial nerve or its root|fibrae nervi facialis|facial nerve/root|facial nerve root|facial nerve fibers owl:Class MONDO:0018756 biolink:NamedThing euthyroid Graves orbitopathy tmpak2llvmy_mondo_relaxed.owl euthyroid Graves ophthalmopathy Orphanet:466682|ICD10:H05.2 Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 owl:Class MONDO:0012748 biolink:NamedThing primary ciliary dyskinesia 7 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 7|DNAH11 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAH11|ciliary dyskinesia, primary, 7, with or without situs inversus|primary ciliary dyskinesia type 7|CILD7|primary ciliary dyskinesia 7|ciliary dyskinesia, primary, type 7|primary ciliary dyskinesia 7 with or without situs inversus OMIM:611884|MESH:C567504|ICD10:Q34.8|UMLS:C2678473|DOID:0110605 owl:Class HGNC:2942 biolink:NamedThing DNAH11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024553 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 1 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. tmpak2llvmy_mondo_relaxed.owl myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|MLASA1|PUS1 myopathy, lactic acidosis, and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic anemia 1|mitochondrial myopathy and sideroblastic anemia OMIM:600462|DOID:0111185|UMLS:C1838103 owl:Class MONDO:0005200 biolink:NamedThing viral dilated cardiomyopathy An dilated cardiomyopathy caused by infection with Viruses. tmpak2llvmy_mondo_relaxed.owl Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy SCTID:30496006|Wikipedia:Viral_cardiomyopathy|UMLS:C0264797|EFO:0002629 owl:Class UBERON:2007013 biolink:NamedThing preplacodal ectoderm Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001401 biolink:NamedThing oligopotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000335 biolink:NamedThing mesenchyme condensation cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:8410044 biolink:NamedThing vein of appendix A vein that is part of a vermiform appendix. tmpak2llvmy_mondo_relaxed.owl vein of vermiform appendix|vein of appendix vermiformis owl:Class HGNC:23564 biolink:NamedThing MIR17HG tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006868 biolink:NamedThing seminal fluid secreting gland A gland that secretes a seminal fluid. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410030 biolink:NamedThing lymphatic vessel of appendix A lymphatic vessel located in the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl lymphatic vessel of appendix vermiformis|lymphatic vessel of vermiform appendix owl:Class HsapDv:0000102 biolink:NamedThing 8-year-old human stage Child stage that refers to a child who is over 8 and under 9 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:42415 biolink:NamedThing Sigmodon hispidus tmpak2llvmy_mondo_relaxed.owl hispid cotton rat|Sigmodon hispiedis GC_ID:1 NCBITaxon:89247 ncbi_taxonomy owl:Class MONDO:0014947 biolink:NamedThing developmental and epileptic encephalopathy, 46 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene. tmpak2llvmy_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in GRIN2D|EIEE46|GRIN2D early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 46|epileptic encephalopathy, early infantile, 46; EIEE46|epileptic encephalopathy, early infantile, type 46|DEE46 DOID:0080456|UMLS:C4310687|OMIM:617162 owl:Class HGNC:4588 biolink:NamedThing GRIN2D tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0032504 biolink:NamedThing multicellular organism reproduction The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007556 biolink:NamedThing epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. tmpak2llvmy_mondo_relaxed.owl speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS-MP|speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|EBS with mottled pigmentation|epidermolysis bullosa simplex with mottled pigmentation|EBSMP MESH:C535959|Orphanet:79397|SCTID:254180002|OMIM:131960|ICD9:757.39|DOID:0111346|GARD:0009737|ICD10:Q81.0 https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation owl:Class MONDO:0045004 biolink:NamedThing skeletal ligament disease A disease or disorder that involves the skeletal ligament. tmpak2llvmy_mondo_relaxed.owl skeletal ligament disease or disorder|disease or disorder of skeletal ligament|disorder of skeletal ligament|disease of skeletal ligament owl:Class MONDO:0021132 biolink:NamedThing tertiary hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. tmpak2llvmy_mondo_relaxed.owl tertiary hyperparathyroidism ICD9:588.89|SCTID:78200003|UMLS:C0271858|NCIT:C114821 owl:Class MONDO:0006964 biolink:NamedThing secondary hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. tmpak2llvmy_mondo_relaxed.owl secondary hyperparathyroidism (disease)|secondary hyperparathyroidism NOS|secondary hyperparathyroidism secondary hyperparathyroidism (disease) NCIT:C113335|MedDRA:10020708|HP:0000867|SCTID:91478007|EFO:1001173|MESH:D006962|UMLS:C0020503|DOID:12466 owl:Class UBERON:0013757 biolink:NamedThing capillary blood A blood that is part of a capillary. tmpak2llvmy_mondo_relaxed.owl portion of blood in capillary|portion of capillary blood|blood in capillary owl:Class HP:0001931 biolink:NamedThing Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. tmpak2llvmy_mondo_relaxed.owl Hypochromic anaemia UMLS:C0002884|SNOMEDCT_US:44452003|MSH:D000747 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). human_phenotype owl:Class MONDO:0018072 biolink:NamedThing persistent truncus arteriosus A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. tmpak2llvmy_mondo_relaxed.owl common truncus arteriosus|persistent truncus arteriosus (disease)|persistent truncus arteriosus|common aorticopulmonary trunk|TAC|common arterial trunk|truncus arteriosus persistent truncus arteriosus (disease) GARD:0007375|Orphanet:3384|ICD10:Q20.0|NCIT:C98880 owl:Class MONDO:0009484 biolink:NamedThing primary ciliary dyskinesia 1 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. tmpak2llvmy_mondo_relaxed.owl Polynesian bronchiectasis|primary ciliary dyskinesia caused by mutation in DNAI1|dextrocardia, bronchiectasis, and sinusitis|immotile cilia syndrome|ciliary dyskinesia, primary, 1|PCD|Siewert syndrome|primary ciliary dyskinesia type 1|ciliary dyskinesia, primary, type 1|CILD1|primary ciliary dyskinesia 1 with or without situs inversus|ciliary dyskinesia, primary, 1, with or without situs inversus|Kartagener syndrome|primary ciliary dyskinesia 1|DNAI1 primary ciliary dyskinesia OMIM:244400|DOID:0110594|ICD10:Q34.8|Orphanet:98861 owl:Class HGNC:9879 biolink:NamedThing RASGRP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014087 biolink:NamedThing Smith-McCort dysplasia 2 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene. tmpak2llvmy_mondo_relaxed.owl Smith-McCort dysplasia 2|SMITH-McCort dysplasia 2|Smith-McCort dysplasia caused by mutation in RAB33B|Smith-McCort dysplasia type 2|Smc2|RAB33B Smith-McCort dysplasia UMLS:C3714896|OMIM:615222 owl:Class HGNC:16075 biolink:NamedThing RAB33B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012703 biolink:NamedThing lissencephaly due to TUBA1A mutation Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. tmpak2llvmy_mondo_relaxed.owl lissencephaly 3|lissencephaly type 3|LIS3 Orphanet:171680|ICD10:Q04.3|OMIM:611603|NCIT:C148461|UMLS:CN200289|MESH:C566908 owl:Class HGNC:20766 biolink:NamedThing TUBA1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000252 biolink:NamedThing inflammatory diarrhea An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa. tmpak2llvmy_mondo_relaxed.owl SCTID:95544006|DOID:0050132 owl:Class HGNC:29918 biolink:NamedThing NDUFAF3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0019292 biolink:NamedThing white matter of pons tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006247 biolink:NamedThing iliac pre-cartilage condensation A iliac endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024868 biolink:NamedThing metastatic carcinoma in the adrenal medulla A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. tmpak2llvmy_mondo_relaxed.owl metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla UMLS:C1334717|NCIT:C9276 owl:Class GO:0002795 biolink:NamedThing negative regulation of antimicrobial peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. tmpak2llvmy_mondo_relaxed.owl down-regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion owl:Class OBO:CHR_9606-chr19p13.1 biolink:NamedThing chr19p13.1 (Human) tmpak2llvmy_mondo_relaxed.owl 19900000 12600000 hg38 owl:Class MONDO:0018669 biolink:NamedThing snakebite envenomation tmpak2llvmy_mondo_relaxed.owl snake venom causing toxic effect|poisoning caused by venomous snake|toxic effect of bite of venomous snake|snake bite poisoning|poisoning by venomous snake|snake venom poisoning ICD10:T63.0|SCTID:61288004|UMLS:CN237735|Orphanet:449285 owl:Class UBERON:0002275 biolink:NamedThing reticular formation A composite substructure of the brainstem that consists of the midbrain reticular formation, the pontine reticular formation and the medullary reticular formation ( Carpenter-1983 ). tmpak2llvmy_mondo_relaxed.owl reticular formation of the brainstem|brain stem reticular formation|reticular formation (classical)|brainstem reticular formation owl:Class UBERON:0005457 biolink:NamedThing left thymus lobe A thymus lobe that is in the left side of a thymus. tmpak2llvmy_mondo_relaxed.owl left thymic lobe|left lobe of thymus owl:Class MONDO:0021950 biolink:NamedThing autoimmune oophoritis Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. tmpak2llvmy_mondo_relaxed.owl MESH:C538274|GARD:0009461|UMLS:C0878654 https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis owl:Class HGNC:3182 biolink:NamedThing PHC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7745 biolink:NamedThing NEK2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002205 biolink:NamedThing Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. tmpak2llvmy_mondo_relaxed.owl Recurrent respiratory infections|Susceptibility to respiratory infections|Multiple respiratory infections|respiratory infections, recurrent|Frequent respiratory infections UMLS:C3806482 HP:0002782|HP:0002873 human_phenotype owl:Class UBERON:0010235 biolink:NamedThing uvular muscle The musculus uvulae (azygos uvulae) is a muscle of the soft palate. It arises from the posterior nasal spine of the palatine bones and from the palatine aponeurosis. It descends to be inserted into the uvula and functions to move and shape it. It is innervated by the pharyngeal branch of the vagus nerve via the pharyngeal plexus[WP]. tmpak2llvmy_mondo_relaxed.owl uvular muscle|musculus uvulae muscle|m. uvulae|azygos uvulae|musculus uvulae|uvulae muscle owl:Class MONDO:0008198 biolink:NamedThing parietal foramina with cleidocranial dysplasia Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. tmpak2llvmy_mondo_relaxed.owl PFMCCD|parietal foramina with clavicular hypoplasia|cleidocranial dysplasia with parietal foramina|parietal foramina with cleidocranial dysostosis|parietal foramina with cleidocranial dysplasia Orphanet:251290|UMLS:C1868597|OMIM:168550|ICD10:Q74.0|MESH:C566825 owl:Class MONDO:0002112 biolink:NamedThing benign peritoneal mesothelioma A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent. tmpak2llvmy_mondo_relaxed.owl peritoneal adenomatoid tumor|mesothelioma of peritoneum|peritoneum benign mesothelioma NCIT:C7354|DOID:1789 owl:Class OBO:CHR_9606-chrY biolink:NamedThing chrY (Human) tmpak2llvmy_mondo_relaxed.owl Y 57227415 0 hg38 owl:Class CL:2000093 biolink:NamedThing bronchus fibroblast of lung Any fibroblast of lung that is part of a bronchus. tmpak2llvmy_mondo_relaxed.owl TermGenie 2015-03-31T21:16:22Z cell owl:Class HGNC:12403 biolink:NamedThing TTN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2877 biolink:NamedThing DIAPH2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012511 biolink:NamedThing preterm premature rupture of the membranes A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. tmpak2llvmy_mondo_relaxed.owl preterm premature rupture of the membranes|PPROM NCIT:C92862|DOID:0111144|SCTID:312974005|MESH:C563032|OMIM:610504 owl:Class HGNC:1546 biolink:NamedThing SERPINH1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:3000001 biolink:NamedThing exposure to virus A history of exposure to Viruses. tmpak2llvmy_mondo_relaxed.owl Viruses exposure owl:Class GO:0034399 biolink:NamedThing nuclear periphery The portion of the nuclear lumen proximal to the inner nuclear membrane. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023540 biolink:NamedThing Kashani-Strom-Utley syndrome tmpak2llvmy_mondo_relaxed.owl Kashani Strom Utley syndrome|pulmonary aortic stenosis obstructive uropathy|hypoplastic pulmonary arteries and aorta with obstructive uropathy Orphanet:1137|UMLS:C2931392|GARD:0000191|MESH:C537010 MONDO:0023539 owl:Class MONDO:0013168 biolink:NamedThing dilated cardiomyopathy 1DD Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene. tmpak2llvmy_mondo_relaxed.owl RBM20 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in RBM20|CMD1DD|cardiomyopathy, dilated, 1DD|cardiomyopathy, dilated, type 1Dd|dilated cardiomyopathy type 1DD MESH:C567725|OMIM:613172|UMLS:C2750995|ICD10:I42.0|DOID:0110447 owl:Class HGNC:3033 biolink:NamedThing ATN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043373 biolink:NamedThing sudden sensorineural hearing loss Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. tmpak2llvmy_mondo_relaxed.owl sudden hearing loss|sudden deafness|sudden sensorineural hearing loss|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma|deafness, sudden GARD:0012927|MESH:D003639|UMLS:C4275242|SCTID:715239002|Orphanet:90059 owl:Class MONDO:0003856 biolink:NamedThing adult malignant hemangiopericytoma A malignant hemangiopericytoma occurring in the adult population. tmpak2llvmy_mondo_relaxed.owl malignant adult hemangiopericytoma|adult hemangiopericytoma, malignant|hemangiopericytoma, malignant of adults DOID:6332|NCIT:C7946|UMLS:C0279547 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class ECTO:7000083 biolink:NamedThing exposure to contaminated sediment A exposure event involving the interaction of an exposure receptor to chemically enriched sediment. tmpak2llvmy_mondo_relaxed.owl chemically enriched sediment exposure owl:Class GO:0043084 biolink:NamedThing penile erection The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006391 biolink:NamedThing pyloric gland adenoma A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed. tmpak2llvmy_mondo_relaxed.owl pyloric gland adenoma|pyloric gastric gland adenoma EFO:1000501|NCIT:C43526|UMLS:C1709780 owl:Class MONDO:0017723 biolink:NamedThing Sandhoff disease, adult form A Sandhoff disease that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult Sandhoff disease|adult GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency, adult form|Sandhoff disease of adults UMLS:CN203619|ICD10:E75.0|Orphanet:309169 owl:Class HGNC:9490 biolink:NamedThing TMPRSS15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005117 biolink:NamedThing Aeromonas hydrophila infectious disease Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. tmpak2llvmy_mondo_relaxed.owl Aeromonas hydrophila caused disease or disorder|Aeromonas hydrophila disease or disorder EFO:0000776 owl:Class GO:0099531 biolink:NamedThing presynaptic process involved in chemical synaptic transmission The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004183 biolink:NamedThing axonal neuropathy Any nerve disorder affecting the axon of a nerve. tmpak2llvmy_mondo_relaxed.owl axon peripheral neuropathy|axonal neuropathy|peripheral neuropathy of axon SCTID:60703000|UMLS:C0270921|NCIT:C27301|DOID:7319 owl:Class GO:0045893 biolink:NamedThing positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular transcription, DNA-dependent|positive regulation of gene-specific transcription|upregulation of gene-specific transcription|activation of gene-specific transcription|stimulation of transcription, DNA-dependent|up regulation of transcription, DNA-dependent|activation of transcription, DNA-dependent|upregulation of transcription, DNA-dependent|stimulation of gene-specific transcription|transcription activator activity|positive regulation of transcription, DNA-dependent|up regulation of gene-specific transcription|up-regulation of gene-specific transcription|up-regulation of transcription, DNA-dependent owl:Class UBERON:0003123 biolink:NamedThing pharyngeal arch artery 6 The vessels formed within the sixth pair of branchial arches in embryogenesis tmpak2llvmy_mondo_relaxed.owl sixth branchial arch artery|sixth aortic arch|AA6|6th pharyngeal arch artery|6th aortic arch artery|aortic arch 6|pulmonary arch|6th branchial arch artery|6th arch artery owl:Class GO:0006968 biolink:NamedThing cellular defense response A defense response that is mediated by cells. tmpak2llvmy_mondo_relaxed.owl intracellular defense response|cellular defence response|intracellular defence response owl:Class HGNC:6773 biolink:NamedThing SMAD7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005373 biolink:NamedThing meningococcal infection Infections with bacteria of the species neisseria meningitidis. tmpak2llvmy_mondo_relaxed.owl meningococcal disease|infections, Neisseria meningitidis|Neisseria meningitidis infection ICD9:036.89|ICD9:036.9|EFO:0004249|UMLS:C0025303|SCTID:23511006|GARD:0007169|ICD10:A39|ICD9:036|MESH:D008589|GARD:0009547 https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection owl:Class MONDO:0014785 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 2 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. tmpak2llvmy_mondo_relaxed.owl microcephaly, short stature, and impaired glucose metabolism 2|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|MSSGM2|microcephaly, short stature, and impaired glucose metabolism type 2|PPP1R15B microcephaly, short stature, and impaired glucose metabolism UMLS:C4225195|OMIM:616817 owl:Class HGNC:2711 biolink:NamedThing DCTN1 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q13 biolink:NamedThing chr20q13 (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 43100000 hg38 owl:Class FOODON:00003318 biolink:NamedThing echinoderm food product tmpak2llvmy_mondo_relaxed.owl 2020-01-08 00:20:27+00:00 owl:Class FOODON:03412115 biolink:NamedThing echinoderm Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm] tmpak2llvmy_mondo_relaxed.owl Echinodermata Klein, 1734|Echinodermata owl:Class GO:0007423 biolink:NamedThing sensory organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl sense organ development owl:Class CL:1000447 biolink:NamedThing epithelial cell of stratum germinativum of esophagus A basal cell that is part of the epithelium of esophagus. tmpak2llvmy_mondo_relaxed.owl basal cell of esophageal epithelium FMA:70731 cell owl:Class HGNC:9080 biolink:NamedThing PLN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021443 biolink:NamedThing benign neoplasm of lymph node A benign neoplasm that involves the lymph node. tmpak2llvmy_mondo_relaxed.owl benign tumor of lymph node|benign lymph node tumor|benign lymph node neoplasm|benign tumor of the lymph node|benign neoplasm of the lymph node|lymph node benign neoplasm ICD9:229.0|SCTID:92197001|DOID:0080617|NCIT:C3636|UMLS:C0154054 owl:Class HGNC:5971 biolink:NamedThing IL12RB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014638 biolink:NamedThing Fanconi anemia complementation group T Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type T|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|Fanconi Anemia, complementation group type T|Fanconi anemia, complementation group T|FANCT UMLS:C4084840|OMIM:616435|DOID:0111081 owl:Class HGNC:25009 biolink:NamedThing UBE2T tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0120316 biolink:NamedThing sperm flagellum assembly The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013782 biolink:NamedThing pseudohypoaldosteronism type 2E Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. tmpak2llvmy_mondo_relaxed.owl Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIE|pseudohypoaldosteronism, type 2E|pseudohypoaldosteronism type 2 caused by mutation in CUL3|PHA2E|pseudohypoaldosteronism type 2 caused by mutation in Cul3|CUL3 pseudohypoaldosteronism type 2 OMIM:614496|Orphanet:300530|UMLS:C3469606|ICD10:I15.1 owl:Class HGNC:2553 biolink:NamedThing CUL3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007124 biolink:NamedThing pharyngeal pouch 3 A pharyngeal pouch that between pharyngeal arches 3 and 4. tmpak2llvmy_mondo_relaxed.owl third pharyngeal pouch|third visceral pouch|visceral pouch 3|third arch pharyngeal pouch|3rd pharyngeal pouch endoderm|3rd branchial pouch|3rd arch branchial pouch|3rd arch branchial pouch endoderm|pharyngeal pouches 3 owl:Class HGNC:14211 biolink:NamedThing BLNK tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018154 biolink:NamedThing ligament of middle ear A ligament that is part of a middle ear. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011443 biolink:NamedThing febrile seizures, familial, 4 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 4|febrile seizures, familial, type 4|febrile seizures, familial caused by mutation in ADGRV1|ADGRV1 febrile seizures, familial|convulsions, familial febrile, 4|FEB4 OMIM:604352|DOID:0111305|UMLS:C1858493|MESH:C565788 owl:Class HGNC:17416 biolink:NamedThing ADGRV1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017782 biolink:NamedThing developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). tmpak2llvmy_mondo_relaxed.owl Orphanet:313892 owl:Class MONDO:0014524 biolink:NamedThing intellectual disability, autosomal recessive 47 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 47|MRT47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2|FMN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 47|mental retardation, autosomal recessive type 47|mental retardation, autosomal recessive 47 OMIM:616193|UMLS:C4015444 owl:Class MONDO:0016208 biolink:NamedThing solitary rectal ulcer syndrome Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. tmpak2llvmy_mondo_relaxed.owl ICD10:K62.6|UMLS:C4274343|SCTID:716685003|UMLS:CN200964|Orphanet:209964 owl:Class HGNC:6259 biolink:NamedThing KCNJ13 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000231 biolink:NamedThing Far eastern spotted fever tmpak2llvmy_mondo_relaxed.owl Rickettsia heilongjiangensis spotted fever UMLS:C3532354|SCTID:472822008|DOID:0050046 owl:Class HP:0000347 biolink:NamedThing Micrognathia Developmental hypoplasia of the mandible. tmpak2llvmy_mondo_relaxed.owl Little mandible|Deficiency of lower jaw|Hypoplasia of lower jaw|Hypotrophic mandible|Mandibular hypoplasia|Micrognathia of lower jaw|Mandibular retrusion|Decreased projection of mandible|Lower jaw deficiency|Decreased projection of lower jaw|Decreased size of lower jaw|Hypoplastic mandible condyle|Underdevelopment of lower jaw|Small jaw|Hypotrophic lower jaw|Micromandible|Hypoplastic mandible|Small mandible|Lower jaw hypoplasia|Decreased size of mandible|Mandibular micrognathia|Lower jaw retrusion|Mandibular retrognathia|Severe hypoplasia of mandible|Hypoplasia of mandible|Underdevelopment of mandible|Small lower jaw|Little lower jaw|Mandibular deficiency|Robin mandible|Retrusion of lower jaw SNOMEDCT_US:32958008|UMLS:C0025990|UMLS:C0240295|MSH:D008844|UMLS:C1857130|Fyler:4163 Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. HP:0002674|HP:0000345|HP:0000210|HP:0002005|HP:0005470|HP:0004669|HP:0000330|HP:0005460 human_phenotype owl:Class OBO:CHR_9606-chr3q1 biolink:NamedThing chr3q1 (Human) tmpak2llvmy_mondo_relaxed.owl 122200000 90900000 hg38 owl:Class HGNC:6027 biolink:NamedThing CXCR2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25155 biolink:NamedThing HOGA1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:9001809 biolink:NamedThing exposure to polar solvent An exposure to polar solvent. tmpak2llvmy_mondo_relaxed.owl exposure to polar solvent owl:Class MONDO:0007064 biolink:NamedThing adenosine deaminase deficiency A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. tmpak2llvmy_mondo_relaxed.owl severe combined immunodeficiency due to adenosine deaminase deficiency|SCID due to adenosine deaminase deficiency|ADA deficiency|ADA|adenosine deaminase deficiency|SCID due to ADA deficiency|SCID due to ADA deficiency, early-onset|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency|adenosine deaminase deficient severe combined immunodeficiency|adenosine deaminase deficiency, partial|SCID due to ADA deficiency, late-onset|severe combined immunodeficiency due to ADA deficiency|SCID due to ADA deficiency, delayed onset|ADA-SCID|partial ADA deficiency SCTID:44940001|DOID:5810|ICD10:D81.3|CSP:1560-6660|Orphanet:277|ICD9:277.2|GARD:0005748|NCIT:C3962|OMIM:102700|MESH:C531816|EFO:0009147|MedDRA:10066367 https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency owl:Class HGNC:186 biolink:NamedThing ADA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015264 biolink:NamedThing cryptogenic organizing pneumonia Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. tmpak2llvmy_mondo_relaxed.owl idiopathic bronchiolitis obliterans organizing pneumonia|COP|idiopathic bronchiolitis obliterans with organizing pneumonia|cryptogenic organizing pneumonitis|bronchiolitis obliterans organizing pneumonia|idiopathic BOOP ICD10:J84.116|Orphanet:1302|NCIT:C62586|UMLS:C0242770|MESH:D018549|SCTID:719218000|EFO:1001300|DOID:0050157|ICD10:J84.1|ICD9:516.36|GARD:0001620 owl:Class HGNC:4192 biolink:NamedThing GCGR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140245 biolink:NamedThing regulation of translation at postsynapse Any process that regulates translation occurring at the postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0140243 biolink:NamedThing regulation of translation at synapse Any process that regulates translation occurring at the synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006650 biolink:NamedThing anterior spinal artery syndrome Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) tmpak2llvmy_mondo_relaxed.owl anterior spinal artery syndromic disease|syndromic disease of anterior spinal artery EFO:1000810|SCTID:2972007|UMLS:C0221069|MESH:D020759|MedDRA:10002703|DOID:6712|ICD9:433.80 owl:Class HGNC:2074 biolink:NamedThing CLN3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001102 biolink:NamedThing cartilage of main bronchus A cartilage that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl principal bronchus cartilage|cartilage of primary bronchus|cartilage of bronchus principalis|main bronchus cartilage|cartilage of principal bronchus|cartilaginous ring of main bronchus|main bronchial cartilage|primary bronchus cartilage|bronchus principalis cartilage owl:Class MONDO:0009608 biolink:NamedThing methionine malabsorption syndrome tmpak2llvmy_mondo_relaxed.owl Smith-strang disease|oasthouse urine disease|methionine malabsorption syndrome SCTID:45812003|OMIM:250900|MESH:C562682|UMLS:C0268622 owl:Class MONDO:0019640 biolink:NamedThing posterior urethral valve Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. tmpak2llvmy_mondo_relaxed.owl Posterior urethral valves|congenital posterior urethral valves|PUV Orphanet:93110|ICD9:753.8|ICD10:Q64.2|SCTID:253900005|NCIT:C99021|GARD:0007439|MedDRA:10036369|UMLS:CN227669|UMLS:C0238506 owl:Class MONDO:0007532 biolink:NamedThing Electroencephalographic peculiarity: occipital slow beta waves tmpak2llvmy_mondo_relaxed.owl Electroencephalographic peculiarity: occipital slow beta waves OMIM:130400 owl:Class MONDO:0001235 biolink:NamedThing appendix cancer A malignant neoplasm involving the vermiform appendix tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of vermiform appendix|malignant neoplasm of appendix vermiformis|vermiform appendix cancer|malignant appendix neoplasm|cancer of the appendix|malignant vermiform appendix neoplasm|malignant neoplasm of the appendix|malignant tumor of appendix|malignant tumor of the appendix|malignant appendix tumor|cancer of vermiform appendix|malignant neoplasm of appendix ICD9:153.5|ICD10:C18.1|NCIT:C9333|SCTID:363411007|UMLS:C0496779|DOID:11239 owl:Class MONDO:0015313 biolink:NamedThing choanal atresia, bilateral Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. tmpak2llvmy_mondo_relaxed.owl ICD10:Q30.0|Orphanet:137920|UMLS:CN199281 owl:Class MONDO:0001287 biolink:NamedThing endometriosis in cutaneous scar tmpak2llvmy_mondo_relaxed.owl scar endometriosis|endometriosis in scar of skin DOID:11430|ICD10:N80.6|SCTID:53913001|UMLS:C0156348|ICD9:617.6 owl:Class MONDO:0001986 biolink:NamedThing Argyll Robertson pupil tmpak2llvmy_mondo_relaxed.owl atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical ICD9:379.45|UMLS:C0155375|DOID:14523|ICD10:H57.01|SCTID:21011008 owl:Class MONDO:0001303 biolink:NamedThing abnormal pupillary function tmpak2llvmy_mondo_relaxed.owl abnormal pupillary function|abnormal pupillary function (disease) abnormal pupillary function (disease) ICD9:379.49|ICD9:379.40|DOID:11518|HP:0007686|SCTID:72124005|ICD10:H57.09 owl:Class MONDO:0000561 biolink:NamedThing spinocerebellar ataxia type 16 An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. tmpak2llvmy_mondo_relaxed.owl SCAR16 UMLS:CN229296|Orphanet:98770|NCIT:C150250|DOID:0050966 Editor notes: Consider merging into 15/16 owl:Class MONDO:0009790 biolink:NamedThing Opticocochleodentate degeneration tmpak2llvmy_mondo_relaxed.owl Opticocochleodentate degeneration ICD9:333.90|MESH:C563002|SCTID:77553008|UMLS:C0520711|OMIM:258700 owl:Class MONDO:0019428 biolink:NamedThing fried syndrome Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. tmpak2llvmy_mondo_relaxed.owl SCTID:718848000|UMLS:C4305134|ICD10:Q87.8|Orphanet:85335|UMLS:CN206186 owl:Class HGNC:17366 biolink:NamedThing AASS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046486 biolink:NamedThing glycerolipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. tmpak2llvmy_mondo_relaxed.owl glycerolipid metabolism owl:Class HP:0004323 biolink:NamedThing Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. tmpak2llvmy_mondo_relaxed.owl Abnormality of body weight|Abnormality of habitus UMLS:C4025357|UMLS:C0878621 peter 2008-02-27T03:21:00Z HP:0010718 human_phenotype owl:Class HP:0011927 biolink:NamedThing Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. tmpak2llvmy_mondo_relaxed.owl Very short digits|Short digit UMLS:C1860176|UMLS:C4023124 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. peter 2012-06-10T09:18:42Z human_phenotype owl:Class MONDO:0007553 biolink:NamedThing epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase MESH:C565049|UMLS:C1851570|OMIM:131880 owl:Class MONDO:0015765 biolink:NamedThing congenital myopathy with cores tmpak2llvmy_mondo_relaxed.owl Orphanet:172976|ICD10:G71.2 owl:Class MONDO:0013390 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|muscular dystrophy, limb-girdle, type 2Q|LGMD2Q|limb-girdle muscular dystrophy type 2Q DOID:0110285|UMLS:C3150989|OMIM:613723|Orphanet:254361|GARD:0012542|ICD10:G71.0 owl:Class MONDO:0011044 biolink:NamedThing ectrodactyly of lower limbs, congenital heart defect, and micrognathia tmpak2llvmy_mondo_relaxed.owl ectrodactyly of lower limbs, congenital heart defect, and micrognathia UMLS:C1832441|MESH:C563344|OMIM:601348 owl:Class MONDO:0007736 biolink:NamedThing HPA 1 Recognition polymorphism, beta-globin-related tmpak2llvmy_mondo_relaxed.owl HPA I RECOGNITION polymorphism, BETA-globin-RELATED|HPA1|HPA I RECOGNITION polymorphism, BETA-globin-related|restriction fragment length polymorphism, sickle cell Anemia-related OMIM:143020 owl:Class MONDO:0017124 biolink:NamedThing noma Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. tmpak2llvmy_mondo_relaxed.owl noma neonatorum|cancrum oris|oral gangrene|oro-facial gangrene|gangrenous stomatitis|oro-facial noma MedDRA:10029502|DOID:9672|ICD9:528.1|MESH:D009625|NCIT:C34852|GARD:0004001|UMLS:C0028271|EFO:1001063|Orphanet:2700|ICD10:A69.0|SCTID:18116006 https://rarediseases.info.nih.gov/diseases/4001/noma owl:Class MONDO:0024616 biolink:NamedThing tympanitis An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. tmpak2llvmy_mondo_relaxed.owl myringitis|inflammation of tympanic membrane|tympanic membrane inflammation SCTID:14852000|UMLS:C0027134 owl:Class MONDO:0009028 biolink:NamedThing Crane-Heise syndrome Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. tmpak2llvmy_mondo_relaxed.owl cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome ICD10:Q87.5|Orphanet:1512|GARD:0008428|UMLS:C1857532|OMIM:218090|SCTID:715991005|MESH:C536452 https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome owl:Class MONDO:0011359 biolink:NamedThing acromelic frontonasal dysostosis Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. tmpak2llvmy_mondo_relaxed.owl acromelic frontonasal dysostosis|frontonasal dysplasia acromelic|Toriello syndrome|AFND|acromelic frontonasal dysplasia GARD:0005539|OMIM:603671|Orphanet:1827|ICD10:Q75.8|UMLS:C1863616|MESH:C566345|DOID:0060342|GARD:0002393|SCTID:715427008 https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic owl:Class MONDO:0021627 biolink:NamedThing eyelid capillary hemangioma A capillary hemangioma arising from the eyelid. tmpak2llvmy_mondo_relaxed.owl capillary hemangioma of the lid|capillary hemangioma of eyelid|eyelid capillary hemangioma|eyelid capillary angioma|capillary angioma of lid|capillary hemangioma of lid|capillary angioma of the eyelid|capillary hemangioma of the eyelid|capillary angioma of eyelid|capillary angioma of the lid SCTID:231828003|NCIT:C4357|UMLS:C0339110 owl:Class MONDO:0013448 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 8 tmpak2llvmy_mondo_relaxed.owl GEFSP8|Gefs+, type 8|generalized epilepsy with febrile seizures plus, type 8 OMIM:613828|DOID:0111299|UMLS:C3151191 owl:Class MONDO:0026426 biolink:NamedThing X inactivation, familial skewed, 2 tmpak2llvmy_mondo_relaxed.owl SXI2|X-inactivation, familial skewed, 2|X INACTIVATION, FAMILIAL SKEWED, 2 OMIM:300179 owl:Class MONDO:0100209 biolink:NamedThing X inactivation, familial skewed tmpak2llvmy_mondo_relaxed.owl This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series). http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016461 biolink:NamedThing 5q35 microduplication syndrome The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. tmpak2llvmy_mondo_relaxed.owl trisomy 5q35|dup(5)(q35) UMLS:CN201426|SCTID:719665003|UMLS:C4304526|ICD10:Q92.3|Orphanet:228415 owl:Class MONDO:0005809 biolink:NamedThing infectious ectromelia A viral infection of mice, causing edema and necrosis followed by limb loss. tmpak2llvmy_mondo_relaxed.owl EFO:0007325|UMLS:C0013591|MESH:D004482 owl:Class MONDO:0010184 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblC A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria and homocystinuria type cblC|cblC|cobalamin C defect|methylmalonic aciduria and homocystinuria cblC|methylmalonic acidemia with homocystinuria, type cblC|methylmalonic acidemia and homocystinuria cblC|MAHCC|methylmalonic acidemia with homocystinuria type cblC|methylmalonic aciduria and homocystinuria, cblC type|cblC methylmalonic acidemia and homocystinuria|cblC - cobalamin locus c|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, cblC type, digenic|cobalamin locus c variant|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|cobalamin C deficiency|cobalamin c disease|cblC defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|methylmalonic aciduria with homocystinuria, type cblC|methylmalonic acidemia and homocystinuria, cblC type OMIM:277400|ICD10:E72.1|DOID:0050715|SCTID:74653006|NCIT:C142174|GARD:0012128|Orphanet:79282|UMLS:CN205878 owl:Class MONDO:0005946 biolink:NamedThing rhinosporidiosis Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. tmpak2llvmy_mondo_relaxed.owl infection by Rhinosporidium seeberi|Rhinosporidioses|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi disease or disorder|Rhinosporidium seeberi caused disease or disorder ICD9:117.0|EFO:0007471|UMLS:C0035469|ICD10:B48.1|SCTID:18140003|DOID:2409|MESH:D012227 owl:Class MONDO:0000707 biolink:NamedThing diversion colitis A colitis which can occur as a complication of ileostomy or colostomy. tmpak2llvmy_mondo_relaxed.owl ICD9:558|ICD9:558.9|UMLS:C0267532|DOID:0060187|SCTID:51290000|ICD10:K52 owl:Class GO:0001909 biolink:NamedThing leukocyte mediated cytotoxicity The directed killing of a target cell by a leukocyte. tmpak2llvmy_mondo_relaxed.owl immune cell mediated cell death|leucocyte mediated cytotoxicity|immune cell mediated cell killing|immune cell mediated cytotoxicity owl:Class MONDO:0002855 biolink:NamedThing ectomesenchymoma An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component. tmpak2llvmy_mondo_relaxed.owl ectomesenchymoma|rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|sarcoma with ganglionic or neuroectodermal differentiation|rhabdomyosarcoma with ganglionic differentiation|malignant ectomesenchymoma NCIT:C4716|GARD:0012279|DOID:4055|UMLS:C0431111|ICDO:8921/3 owl:Class MONDO:0006891 biolink:NamedThing partial motor epilepsy A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. tmpak2llvmy_mondo_relaxed.owl epilepsy, focal motor|focal motor seizure SCTID:128612007|ICD9:780.39|EFO:1001089|MESH:D020938|DOID:3327 owl:Class UBERON:0003253 biolink:NamedThing neck of rib The neck of the rib is the flattened portion which extends lateralward from the head; it is about 2.5 cm. long, and is placed in front of the transverse process of the lower of the two vertebrC& with which the head articulates. Its anterior surface is flat and smooth, its posterior rough for the attachment of the ligament of the neck, and perforated by numerous foramina. Of its two borders the superior presents a rough crest (crista colli costE) for the attachment of the anterior costotransverse ligament; its inferior border is rounded. On the posterior surface at the junction of the neck and body, and nearer the lower than the upper border, is an eminencebthe tubercle; it consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrC& to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs. tmpak2llvmy_mondo_relaxed.owl collum costae|rib neck owl:Class ENVO:03520007 biolink:NamedThing snow crystal A water ice crystal which is constituted by water molecules aligned in a hexagonal array. tmpak2llvmy_mondo_relaxed.owl snowflake owl:Class MONDO:0019819 biolink:NamedThing double-orifice mitral valve tmpak2llvmy_mondo_relaxed.owl Orphanet:95474|SCTID:253402005|ICD9:746.89|ICD10:Q23.8 owl:Class MONDO:0015768 biolink:NamedThing trisomy 5p Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. tmpak2llvmy_mondo_relaxed.owl 5p trisomy|5p duplication|Duplication 5p|chromosome 5p duplication|Duplication of the short arm of chromosome 5|partial trisomy 5p|trisomy of the short arm of chromosome 5|trisomy type 5p ICD10:Q92.2|GARD:0006093|Orphanet:1742 owl:Class MONDO:0004302 biolink:NamedThing chief cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. tmpak2llvmy_mondo_relaxed.owl chief cell adenoma of parathyroid|chief cell adenoma of parathyroid gland|chief cell adenoma|chief cell adenoma of the parathyroid gland|chief cell adenoma of the parathyroid|parathyroid gland chief cell adenoma|parathyroid chief cell adenoma DOID:7607|UMLS:C0334320|ICDO:8321/0|NCIT:C4154 owl:Class MONDO:0030032 biolink:NamedThing chromosome 17q11.2 duplication syndrome, 1.4-mb tmpak2llvmy_mondo_relaxed.owl CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB|Nf1 Microduplication Syndrome OMIM:618874 owl:Class MONDO:0004189 biolink:NamedThing esophageal tuberculosis A tuberculosis that involves the esophagus. tmpak2llvmy_mondo_relaxed.owl tuberculosis of esophagus|esophagus tuberculosis ICD9:017.80|ICD9:017.8|ICD9:017.83|DOID:7332|SCTID:15284007|UMLS:C0152902|ICD9:017.81 owl:Class NCBITaxon:7197 biolink:NamedThing Psychodidae tmpak2llvmy_mondo_relaxed.owl sandflies and mothflies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41831 biolink:NamedThing Psychodoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:19077 biolink:NamedThing NCR3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033670 biolink:NamedThing deafness, autosomal recessive 116 tmpak2llvmy_mondo_relaxed.owl DFNB116 OMIM:619093 owl:Class MONDO:0043267 biolink:NamedThing rheumatoid vasculitis Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. tmpak2llvmy_mondo_relaxed.owl vasculitis, rheumatoid|rheumatoid vasculitis|rheumatoid Vasculitides|Vasculitides, rheumatoid UMLS:C0240903|SCTID:400054000|GARD:0007577|MESH:D056653 owl:Class NCBITaxon:694013 biolink:NamedThing Gammacoronavirus tmpak2llvmy_mondo_relaxed.owl Group 3 species|Coronavirus|Coronavirus group 3 GC_ID:1 NCBITaxon:156440 ncbi_taxonomy owl:Class HGNC:9483 biolink:NamedThing PRSS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013936 biolink:NamedThing peroxisome biogenesis disorder 6A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 6A (Zellweger)|peroxisome biogenesis disorder, complementation group B|peroxisome biogenesis disorder, complementation group 7|PBD6A UMLS:C3553947|MESH:C566422|NCIT:C155758|OMIM:614870|DOID:0080481 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HP:0005523 biolink:NamedThing Lymphoproliferative disorder tmpak2llvmy_mondo_relaxed.owl Lymphoproliferative disorders SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|UMLS:C0024314|MSH:D008232|SNOMEDCT_US:77121009|SNOMEDCT_US:414629003 human_phenotype owl:Class MONDO:0054708 biolink:NamedThing retinitis pigmentosa 80 tmpak2llvmy_mondo_relaxed.owl RP80|RETINITIS pigmentosa 80 OMIM:617781 owl:Class MONDO:0022337 biolink:NamedThing AIDS dysmorphic syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0005765 https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome owl:Class MONDO:0012186 biolink:NamedThing Fanconi anemia complementation group I Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. tmpak2llvmy_mondo_relaxed.owl Fanconi Anemia, complementation Group 1|FANCI|Fanconi anemia, complementation group I|Fanconi Anemia, complementation group type 1|Fanconi anemia complementation group I|Fanconi anemia complementation group type I UMLS:C1836861|MESH:C563802|NCIT:C129026|DOID:0111091|OMIM:609053 owl:Class HGNC:8877 biolink:NamedThing PFKM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021485 biolink:NamedThing benign neoplasm of iris A benign neoplasm that involves the iris. tmpak2llvmy_mondo_relaxed.owl benign neoplasm of the iris|benign iris neoplasm|benign tumor of the iris|benign iris tumor|iris benign neoplasm|benign tumor of iris NCIT:C4555|SCTID:189151003|UMLS:C0346374|ICD9:224.0 owl:Class MONDO:0004635 biolink:NamedThing postcricoid region cancer A primary or metastatic malignant neoplasm that affects the postcricoid region. tmpak2llvmy_mondo_relaxed.owl malignant tumor of pharyngoesophageal junction|malignant neoplasm of the postcricoid area|malignant postcricoid neoplasm|malignant postcricoid tumor|malignant tumor of postcricoid area|malignant tumor of the postcricoid area|malignant neoplasm of postcricoid area SCTID:363400004|DOID:8660|UMLS:C0496769|ICD9:148.0|NCIT:C9323|ICD10:C13.0 owl:Class MONDO:0030997 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 37 tmpak2llvmy_mondo_relaxed.owl MC1DN37|mitochondrial complex 1 deficiency, nuclear type 37 OMIM:619272 owl:Class MONDO:0032578 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 9 tmpak2llvmy_mondo_relaxed.owl CDCBM9|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 OMIM:618174 owl:Class MONDO:0100251 biolink:NamedThing familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome tmpak2llvmy_mondo_relaxed.owl hyperphosphatemia tumoral calcinosis|tumoral calcinosis with hyperphosphatemia|HHS|hyperphosphatemia hyperostosis|hyperphosphatemia hyperostosis syndrome|HFTC|morbus Teutschlaender|lipocalcinogranulomatosis|hypercalcemic tumoral calcinosis|cortical hyperostosis with hyperphosphatemia|hyperphosphatemic familial tumoral calcinosis|PHPTC|hyperostosis with hyperphosphatemia|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|primary hyperphosphatemic tumoral calcinosis|familial Teutschlaender disease|tumoral calcinosis, hyperphosphatemic, familial, 1 NCIT:C131851|UMLS:C1876187|ICD10:M11.2|Orphanet:306661|DOID:0111063|GARD:0010879 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017743 biolink:NamedThing disorder of O-N-acetylgalactosaminylglycan synthesis tmpak2llvmy_mondo_relaxed.owl ICD10:E77.8|Orphanet:309458|UMLS:CN227190 owl:Class UBERON:0012193 biolink:NamedThing phrenic vein The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012297 biolink:NamedThing SPOAN syndrome A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, optic atrophy, and neuropathy|SPOAN|spastic paraplegia, optic atropy, and neuropathy|spastic paraplegia, optic atropy, and neuropathy syndrome|spastic paraplegia-optic atrophy-neuropathy syndrome MESH:C563702|DOID:0060491|Orphanet:320406|OMIM:609541|ICD10:G11.4|UMLS:C1836010 owl:Class MONDO:0003474 biolink:NamedThing tanycytic ependymoma A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) tmpak2llvmy_mondo_relaxed.owl tanycytic ependymoma NCIT:C6903|UMLS:C1370500|DOID:5504 owl:Class MONDO:0010528 biolink:NamedThing anosmia Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. tmpak2llvmy_mondo_relaxed.owl anosmia (disease)|anosmia anosmia (disease) HP:0000458|OMIM:301700|MESH:D000857 owl:Class UBERON:0006133 biolink:NamedThing funiculus of neuraxis The cerebrospinal nerves consist of numerous nerve fibers collected together and enclosed in membranous sheaths. A small bundle of fibers, enclosed in a tubular sheath, is called a funiculus; if the nerve is of small size, it may consist only of a single funiculus; but if large, the funiculi are collected together into larger bundles or fasciculi, which are bound together in a common membranous investment. Examples include: Anterior funiculus of the spinal cord Lateral funiculus of the spinal cord Posterior funiculus of the spinal cord Funiculus solitarius of the medulla Funiculus separans tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024349 biolink:NamedThing pityriasis alba tmpak2llvmy_mondo_relaxed.owl pityriasis alba ICD9:696.5|SCTID:402296004 owl:Class MONDO:0004769 biolink:NamedThing orbital plasma cell granuloma A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). tmpak2llvmy_mondo_relaxed.owl orbital myositis|orbital pseudotumors|inflammatory pseudotumor of orbit|orbital granuloma, plasma cell|pseudotumor, orbital|granuloma, plasma cell, orbital|pseudotumor, orbital inflammatory|orbital inflammatory pseudotumors|pseudotumors, orbital|plasma cell granuloma, orbital|inflammatory pseudotumors, orbital|inflammatory pseudotumor, orbital|pseudotumor of orbit|pseudotumor, inflammatory, orbital|orbital inflammatory pseudotumor ICD10:H05.11|NCIT:C117296|DOID:9369|ICD9:376.12|SCTID:80698001|SCTID:72789009|MESH:D016727 Editor note: check relationship to orbotral granuloma owl:Class NCBITaxon:136841 biolink:NamedThing Pseudomonas aeruginosa group tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0016571 biolink:NamedThing macrocephaly-short stature-paraplegia syndrome Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. tmpak2llvmy_mondo_relaxed.owl Volcke-Soekarman syndrome Orphanet:2427|SCTID:722033000|MESH:C537718 owl:Class HP:0100584 biolink:NamedThing Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. tmpak2llvmy_mondo_relaxed.owl MSH:D004696|SNOMEDCT_US:56819008|UMLS:C0014118 doelkens 2010-12-27T02:57:48Z human_phenotype owl:Class NCBITaxon:451871 biolink:NamedThing Eurotiomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147545 biolink:NamedThing Eurotiomycetes tmpak2llvmy_mondo_relaxed.owl Loculoascomycetes|bitunicate ascomycetes|Plectomycetes GC_ID:1 NCBITaxon:147540 ncbi_taxonomy owl:Class GO:0017111 biolink:NamedThing nucleoside-triphosphatase activity Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate. tmpak2llvmy_mondo_relaxed.owl nucleoside triphosphate phosphohydrolase activity|apyrase activity|nucleoside-5-triphosphate phosphohydrolase activity|NTPase activity|nucleoside triphosphate hydrolase activity|unspecific diphosphate phosphohydrolase activity|nucleoside triphosphatase activity|nucleoside 5-triphosphatase activity owl:Class MONDO:0015565 biolink:NamedThing cap polyposis Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. tmpak2llvmy_mondo_relaxed.owl eroded polypoid hyperplasia|inflammatory myoglandular polyps|Cap inflammatory polyposis|polypoid prolapsing folds SCTID:720604008|UMLS:C4303971|Orphanet:160148|ICD10:D12.6 owl:Class CL:2000088 biolink:NamedThing Ammon's horn basket cell Any basket cell that is part of a Ammon's horn. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-24T00:37:30Z cell owl:Class CHEBI:36587 biolink:NamedThing organic oxo compound Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. tmpak2llvmy_mondo_relaxed.owl organic oxo compounds|oxo compounds owl:Class MONDO:0030700 biolink:NamedThing autoimmune glomerulonephritis An autoimmune form of glomerulonephritis (disease). tmpak2llvmy_mondo_relaxed.owl autoimmune glomerulonephritis (disease) DOID:0040094 owl:Class GO:0010676 biolink:NamedThing positive regulation of cellular carbohydrate metabolic process Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008704 biolink:NamedThing short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. tmpak2llvmy_mondo_relaxed.owl achondroplasia and severe combined immunodeficiency|short-limb skeletal dysplasia with severe combined immunodeficiency|immunodeficiency-short limb dwarfism syndrome|Slsd with SCID|achondroplasia and Swiss-type agammaglobulinemia|achondroplasia-severe combined immunodeficiency syndrome|short limb skeletal dysplasia with SCID|achondroplasia-Swiss type agammaglobulinemia syndrome|achondroplasia, so-called, and severe combined immunodeficiency|achondroplasia so-called and severe combined immunodeficiency|SLSD with SCID|achondroplasia and Swiss type agammaglobulinemia|achondroplasia-SCID syndrome|agammaglobulinemia and achondroplasia OMIM:200900|UMLS:C1860168|ICD10:D82.2|MESH:C565984|GARD:0002988|Orphanet:935|GARD:0000463 https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency owl:Class MONDO:0012777 biolink:NamedThing celiac disease, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl CELIAC8|celiac disease, susceptibility to, 8|gluten-sensitive enteropathy, susceptibility to, 8 OMIM:612006 owl:Class NCBITaxon:11623 biolink:NamedThing Lymphocytic choriomeningitis mammarenavirus tmpak2llvmy_mondo_relaxed.owl LCMV|lymphocytic choriomeningitis virus LCMV|Lymphocytic choriomeningitis virus GC_ID:1 NCBITaxon:12748 ncbi_taxonomy owl:Class NCBITaxon:12870 biolink:NamedThing Variola major virus tmpak2llvmy_mondo_relaxed.owl variola major virus VAR GC_ID:1 NCBITaxon:12869 ncbi_taxonomy owl:Class MONDO:0018618 biolink:NamedThing 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:443090 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0002034 biolink:NamedThing cecum lymphoma An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl cecum lymphoma|primary cecum lymphoma|lymphoma of the cecum|lymphoma of cecum|caecum lymphoma|lymphoma of caecum|cecal lymphoma DOID:1522|UMLS:C1332867|NCIT:C5515 owl:Class MONDO:0002035 biolink:NamedThing colon lymphoma An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. tmpak2llvmy_mondo_relaxed.owl primary colon lymphoma|colon lymphoma|lymphoma of the colon|colonic lymphoma|lymphoma of colon UMLS:C0519037|NCIT:C4793|SCTID:133751000119102|DOID:1523|ICD9:202.80 owl:Class GO:0043167 biolink:NamedThing ion binding Binding to an ion, a charged atoms or groups of atoms. tmpak2llvmy_mondo_relaxed.owl atom binding owl:Class MONDO:0020494 biolink:NamedThing oculootodental syndrome Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. tmpak2llvmy_mondo_relaxed.owl OOD Orphanet:99806|ICD10:K00.2|UMLS:C2750325 owl:Class GO:0061564 biolink:NamedThing axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007371 biolink:NamedThing cornea guttata with anterior polar cataracts tmpak2llvmy_mondo_relaxed.owl cornea guttata with anterior polar cataracts|cornea guttata with anterior polar cataract|familial congenital cornea guttata with anterior polar cataracts (type) MESH:C535471|UMLS:C1852558|OMIM:121390|GARD:0009507 owl:Class UBERON:0011857 biolink:NamedThing acinus of lacrimal gland An acinus that is part of a lacrimal gland. tmpak2llvmy_mondo_relaxed.owl lacrimal gland acinus owl:Class MONDO:0054551 biolink:NamedThing avascular necrosis of femoral head, primary, 2 tmpak2llvmy_mondo_relaxed.owl ANFH2|avascular necrosis of femoral head, primary, 2 OMIM:617383 owl:Class MONDO:8000001 biolink:NamedThing staphylococcus discitis Discitis caused by infection with Staphylococcus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005396 biolink:NamedThing thoracic aortic aneurysm An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpak2llvmy_mondo_relaxed.owl SCTID:433068007|UMLS:C0162872|DOID:14004|EFO:0004282|MESH:D017545 owl:Class MONDO:0005867 biolink:NamedThing Mycoplasma pneumoniae pneumonia Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. tmpak2llvmy_mondo_relaxed.owl pneumonia due to Eaton's agent|pneumonia due to Mycoplasma pneumoniae|Mycoplasmal pneumonia|cold agglutinin positive pneumonia|Mycoplasma pneumonia|pneumonia due to Mycoplasma pneumoniae (disorder) NCIT:C122526|ICD9:483.0|ICD10:J15.7|SCTID:46970008|DOID:13276|MESH:D011019|GARD:0007125|EFO:0007387 owl:Class MONDO:0016769 biolink:NamedThing linear lichen planus Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. tmpak2llvmy_mondo_relaxed.owl Blaschkoid LP|llp|linear LP|Blaschkoid lichen planus Orphanet:254379|ICD10:L43.8|UMLS:C0023650|SCTID:44509000|GARD:0011898 https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus owl:Class MONDO:0015856 biolink:NamedThing syndromic breast hypoplasia/aplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:180193|UMLS:CN226755 owl:Class MONDO:0002956 biolink:NamedThing skin cystic basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl cystic basal cell carcinoma|skin cystic basal cell carcinoma SCTID:403912001|DOID:4302|NCIT:C27537|UMLS:C1275193 owl:Class MONDO:0009700 biolink:NamedThing Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. tmpak2llvmy_mondo_relaxed.owl myopathy-Moebius-Robin syndrome|CFZ syndrome|Moebius sequence, Robin complex, and hypotonia|Carey Fineman Ziter syndrome|CFZS|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|myopathy, congenital nonprogressive with Moebius and Robin sequences|Carey-Fineman-Ziter syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences MESH:C536102|SCTID:429753001|OMIM:254940|ICD9:359.89|GARD:0003889|Orphanet:1358|UMLS:C1850746|ICD10:Q87.0|DOID:0080194 https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome owl:Class MONDO:0019976 biolink:NamedThing dementia pugilistica Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. tmpak2llvmy_mondo_relaxed.owl chronic traumatic encephalopathy|Boxer's dementia|punch-drunk syndrome SCTID:230283005|Orphanet:97353|UMLS:CN206907|ICD10:F01.8|MESH:D020208 owl:Class MONDO:0015574 biolink:NamedThing chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. tmpak2llvmy_mondo_relaxed.owl cutaneous lupus erythematosus, chronic UMLS:CN226705|ICD10:L93.0|ICD10:L93.2|Orphanet:163531|MedDRA:10057929 owl:Class CL:0002676 biolink:NamedThing neural crest derived neuroblast A neuroblast derived from a neural crest cell. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-08-22T09:24:15Z cell owl:Class MONDO:0013183 biolink:NamedThing congenital stationary night blindness 1C Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene. tmpak2llvmy_mondo_relaxed.owl congenital stationary night blindness caused by mutation in TRPM1|congenital stationary night blindness type 1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness 1C autosomal recessive|CSNB, complete, autosomal recessive|CSNB1C|TRPM1 congenital stationary night blindness|congenital stationary night blindness 1C UMLS:C2750747|OMIM:613216|MESH:C567704|DOID:0110867 owl:Class MONDO:0014907 biolink:NamedThing short-rib thoracic dysplasia 15 with polydactyly tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 15 with polydactyly; SRTD15|SRTD15|short-rib thoracic dysplasia 15 with polydactyly OMIM:617088|UMLS:C4310724 owl:Class ENVO:09000006 biolink:NamedThing amount of carbon atom in water The amount of a carbon atom when measured in water. tmpak2llvmy_mondo_relaxed.owl water carbon atom amount owl:Class MONDO:0100365 biolink:NamedThing mucopolysaccharidosis or mucopolysaccharidosis-like disorder Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3785 owl:Class MONDO:0012727 biolink:NamedThing mucocutaneous lymph node syndrome Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. tmpak2llvmy_mondo_relaxed.owl Kawasaki's disease|Kawasaki disease|mucocutaneous lymph node syndrome|infantile polyarteritis|MLNS|acute febrile mucocutaneous lymph node syndrome [MCLS]|infantile polyarteritis nodosa|acute febrile MCLS|acute febrile mucocutaneous lymph node syndrome|Kawasaki syndrome|Kd ICD10:M30.3|SCTID:75053002|OMIM:611775|ICD9:446.1|NCIT:C34825|GARD:0006816|DOID:13378|MESH:D009080|Orphanet:2331|MedDRA:10023320|EFO:0004246|UMLS:C0026691 owl:Class MONDO:0019746 biolink:NamedThing cystinuria type B tmpak2llvmy_mondo_relaxed.owl ICD10:E72.0|Orphanet:93613|UMLS:C1857389 owl:Class MONDO:0018306 biolink:NamedThing Griscelli syndrome Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). tmpak2llvmy_mondo_relaxed.owl Chédiak-Higashi-like syndrome|Griscelli disease|ChC)diak-Higashi-like syndrome|partial albinism-immunodeficiency syndrome|Griscelli-Pruni��ras syndrome|Griscelli-PruniC)ras syndrome|Ch��diak-Higashi-like syndrome|Griscelli-Pruniéras syndrome GARD:0010913|UMLS:CN204933|ICD10:E70.3|SCTID:37548006|ICD9:270.2|Orphanet:381|DOID:0060831|OMIMPS:214450 https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome owl:Class GO:0035296 biolink:NamedThing regulation of tube diameter Any process that modulates the diameter of a tube. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008952 biolink:NamedThing cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. tmpak2llvmy_mondo_relaxed.owl craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|cerebro facio thoracic dysplasia|cerebrofaciothoracic dysplasia|pascual-Castroviejo syndrome type 1|pascual-Castroviejo syndrome|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|CFSMR GARD:0001210|OMIM:213980|ICD10:Q87.5|Orphanet:1394|MESH:C565862|SCTID:720635002 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia owl:Class MONDO:0033549 biolink:NamedThing optic atrophy 12 tmpak2llvmy_mondo_relaxed.owl OPA12|OPTIC ATROPHY 12 OMIM:618977 owl:Class MONDO:0011862 biolink:NamedThing hereditary spastic paraplegia 24 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 24, autosomal recessive|hereditary spastic paraplegia type 24|autosomal recessive spastic paraplegia type 24|SPG24|autosomal recessive spastic paraplegia 24|spastic paraplegia 24 MESH:C564375|GARD:0009296|ICD10:G11.4|OMIM:607584|Orphanet:101004|UMLS:C1843569|DOID:0110775 owl:Class MONDO:0016653 biolink:NamedThing 2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. tmpak2llvmy_mondo_relaxed.owl monosomy 2q33.1|Del(2)(q33.1) SCTID:763062006|Orphanet:251028|ICD10:Q93.5|UMLS:CN201882 owl:Class MONDO:0009390 biolink:NamedThing hyperlysinuria with hyperammonemia tmpak2llvmy_mondo_relaxed.owl hyperlysinemia, periodic|hyperlysinuria with hyperammonemia OMIM:238750|ICD9:270.7|UMLS:C0268555|SCTID:342553006 owl:Class MONDO:0008710 biolink:NamedThing RAB23-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. tmpak2llvmy_mondo_relaxed.owl Carpenter syndrome|RAB23-related Carpenter syndrome|CARPENTER syndrome 1|acrocephalopolysyndactyly type 2|ACPS 2|Carpenter syndrome 1|RAB23 Carpenter syndrome|CRPT1|Carpenter syndrome caused by mutation in RAB23|Carpenter syndrome type 1 OMIM:201000|SCTID:205813009 owl:Class MONDO:0019923 biolink:NamedThing Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 tmpak2llvmy_mondo_relaxed.owl Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11 Orphanet:96193|UMLS:CN206842|ICD10:Q87.3 owl:Class MONDO:0003910 biolink:NamedThing mixed cell uveal melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. tmpak2llvmy_mondo_relaxed.owl mixed cell uveal melanoma DOID:6522|EFO:1000380|NCIT:C35781|UMLS:C1334782 owl:Class NCBITaxon:5763 biolink:NamedThing Naegleria fowleri tmpak2llvmy_mondo_relaxed.owl brain-eating amoeba GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5761 biolink:NamedThing Naegleria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018121 biolink:NamedThing mitochondrial DNA maintenance syndrome An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. tmpak2llvmy_mondo_relaxed.owl inborn mitochondrial genome maintenance disorder|rare inborn error of mitochondrial genome maintenance|mtDNA maintenance syndrome|inborn error of mitochondrial genome maintenance Orphanet:352456|UMLS:CN204491 owl:Class MONDO:0032941 biolink:NamedThing myopia 27 tmpak2llvmy_mondo_relaxed.owl MYP27|MYOPIA 27 OMIM:618827 owl:Class MONDO:0020757 biolink:NamedThing sporadic hemiplegic migraine A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. tmpak2llvmy_mondo_relaxed.owl sporadic hemiplegic migraine NCIT:C117011 owl:Class CL:0002553 biolink:NamedThing fibroblast of lung A fibroblast that is part of lung. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0575|BTO:0000764 tmeehan 2011-02-28T05:11:03Z cell owl:Class MONDO:0014035 biolink:NamedThing severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related intellectual disability|autosomal dominant non-syndromic intellectual disability 19|autosomal dominant mental retardation 19|intellectual disability, autosomal dominant 19|MRD19|intellectual disability, autosomal dominant type 19|mental retardation, autosomal dominant 19|mental retardation, autosomal dominant type 19|autosomal dominant intellectual disability 19 DOID:0070049|GARD:0003505|Orphanet:404473|UMLS:C3554449|ICD10:G11.4|OMIM:615075 https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome owl:Class MONDO:0007878 biolink:NamedThing congenital laryngomalacia Increased collapsibility of the larynx. tmpak2llvmy_mondo_relaxed.owl laryngomalacia congenital|laryngomalacia|congenital laryngeal stridor MedDRA:10060786|ICD9:748.3|ICD10:Q31.5|NCIT:C98971|MESH:D055092|OMIM:150280|SCTID:253737007|GARD:0006865|Orphanet:2373 owl:Class GO:0002053 biolink:NamedThing positive regulation of mesenchymal cell proliferation The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. tmpak2llvmy_mondo_relaxed.owl upregulation of mesenchymal cell proliferation|stimulation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation|up-regulation of mesenchymal cell proliferation|activation of mesenchymal cell proliferation owl:Class MONDO:0012900 biolink:NamedThing cardiomyopathy, familial restrictive, 3 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial restrictive, type 3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|RCM3|cardiomyopathy, familial restrictive, 3|TNNT2 familial isolated restrictive cardiomyopathy OMIM:612422|UMLS:C2676271|MESH:C567316|DOID:0111427 owl:Class MONDO:0019150 biolink:NamedThing familial isolated restrictive cardiomyopathy Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. tmpak2llvmy_mondo_relaxed.owl familial or idiopathic restrictive cardiomyopathy UMLS:CN205687|Orphanet:75249|ICD10:I42.5 owl:Class MONDO:0011163 biolink:NamedThing malignant hyperthermia, susceptibility to, 5 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. tmpak2llvmy_mondo_relaxed.owl CACNA1S malignant hyperthermia of anesthesia|susceptibility to malignant hyperthermia 5|malignant hyperthermia susceptibility type 5|malignant hyperthermia, susceptibility to, type 5|malignant hyperthermia of anesthesia caused by mutation in CACNA1S|malignant hyperpyrexia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|MHS5|Mhs5 OMIM:601887|MESH:C535698|GARD:0003367 https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 owl:Class HGNC:3861 biolink:NamedThing FRA16E tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013527 biolink:NamedThing lissencephaly 4 Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene. tmpak2llvmy_mondo_relaxed.owl lissencephaly (disease) caused by mutation in NDE1|lissencephaly 4, with microcephaly|lissencephaly 4|lissencephaly 4 with microcephaly|LIS4|lissencephaly type 4|NDE1 lissencephaly (disease) UMLS:C3151461|OMIM:614019 owl:Class MONDO:0016659 biolink:NamedThing 8p23.1 duplication syndrome 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). tmpak2llvmy_mondo_relaxed.owl trisomy 8p23.1|dup(8)(p23.1p23.1) ICD10:Q92.3|SCTID:765140006|UMLS:CN201889|Orphanet:251076|GARD:0010304 https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome owl:Class CHEBI:51422 biolink:NamedThing organodiyl group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). tmpak2llvmy_mondo_relaxed.owl organodiyl groups owl:Class CHEBI:51446 biolink:NamedThing organic divalent group tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005666 biolink:NamedThing 4th arch endoderm An endoderm that is part of a pharyngeal arch 4. tmpak2llvmy_mondo_relaxed.owl 4th pharyngeal arch endoderm owl:Class HP:0005387 biolink:NamedThing Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. tmpak2llvmy_mondo_relaxed.owl UMLS:C0494261 human_phenotype owl:Class MONDO:0005202 biolink:NamedThing atopic IgE-mediated allergic disorder A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. tmpak2llvmy_mondo_relaxed.owl atopic state|atopy|Atopic allergy UMLS:C1706410|SCTID:115665000|EFO:0002686|ICD9:995.3 Editor notes: this is a finding in NCIT owl:Class HP:0012758 biolink:NamedThing Neurodevelopmental delay tmpak2llvmy_mondo_relaxed.owl UMLS:C4022738 peter 2014-04-03T12:16:19Z human_phenotype owl:Class MONDO:0000933 biolink:NamedThing subglottis neoplasm A benign or malignant neoplasm that affects the subglottic area of the larynx. tmpak2llvmy_mondo_relaxed.owl subglottis neoplasm (disease)|subglottis neoplasm|neoplasm of the subglottis|subglottis tumor|neoplasm of subglottis|subglottic neoplasm|subglottic tumor|tumor of subglottis|tumor of the subglottis DOID:10069|UMLS:C0345746|SCTID:126696001|NCIT:C4426 owl:Class GO:0010678 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. tmpak2llvmy_mondo_relaxed.owl negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by transcriptional repression|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent owl:Class MONDO:0001610 biolink:NamedThing acute dacryocystitis Acute form of dacryocystitis. tmpak2llvmy_mondo_relaxed.owl dacryocystitis, acute|dacryocystitis - acute UMLS:C0155237|SCTID:25470000|DOID:12996|ICD9:375.32|ICD10:H04.32 owl:Class MONDO:0005927 biolink:NamedThing polyomavirus infectious disease Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). tmpak2llvmy_mondo_relaxed.owl UMLS:C0949804|EFO:0007451|MESH:D027601 owl:Class NCBITaxon:1239 biolink:NamedThing Firmicutes tmpak2llvmy_mondo_relaxed.owl Firmacutes|Bacillus/Clostridium group|clostridial firmicutes|low GC Gram+|Bacillaeota|firmicutes|Bacillota|Low G+C firmicutes|Clostridium group firmicutes|low G+C Gram-positive bacteria PMID:11034484|PMID:11542017|PMID:26654112|GC_ID:11|PMID:25403554|PMID:10555317|PMID:29458499|PMID:15143038 NCBITaxon:31968 ncbi_taxonomy owl:Class MONDO:0019939 biolink:NamedThing early-onset schizophrenia tmpak2llvmy_mondo_relaxed.owl Orphanet:96369|ICD10:F20.8 owl:Class MONDO:0006800 biolink:NamedThing ideomotor apraxia A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) tmpak2llvmy_mondo_relaxed.owl limb-kinetic apraxia|ideomotor dyspraxia|classic apraxia|transcortical apraxia|classic apraxia (finding) [ambiguous]|limb-kinetic apraxia (finding)|transcortical apraxia (finding) MESH:D020240|ICD9:315.8|DOID:4627|SCTID:229706001|MedDRA:10021216|EFO:1000980 owl:Class MONDO:0000665 biolink:NamedThing apraxia Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. tmpak2llvmy_mondo_relaxed.owl dyspraxia|Apraxias MESH:D001072|GARD:0005838|ICD10:R48.2|DOID:0060135 https://rarediseases.info.nih.gov/diseases/5838/apraxia owl:Class MONDO:0017933 biolink:NamedThing hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. tmpak2llvmy_mondo_relaxed.owl hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation UMLS:CN204073|Orphanet:324525|ICD10:I42.2 owl:Class HP:0002209 biolink:NamedThing Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. tmpak2llvmy_mondo_relaxed.owl Sparse, thin scalp hair|Hypotrichosis on scalp|Thin scalp hair|sparse-absent scalp hair|Sparse scalp hair|Reduction in the number of scalp follicles|Scalp hypotrichosis|Decreased number of scalp follicles|Scalp hair, thinning|Reduced/lack of hair on scalp UMLS:C1857042|UMLS:C1873509 Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. HP:0004541|HP:0004774|HP:0004782|HP:0004542|HP:0004772|HP:0002233|HP:0004526|HP:0004775|HP:0004534|HP:0002556 human_phenotype owl:Class GO:1903304 biolink:NamedThing positive regulation of pyruvate kinase activity Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity. tmpak2llvmy_mondo_relaxed.owl activation of phosphoenol transphosphorylase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of pyruvate kinase activity|activation of phosphoenolpyruvate kinase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|positive regulation of phosphoenolpyruvate kinase activity|up-regulation of phosphoenol transphosphorylase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|positive regulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenolpyruvate kinase activity|upregulation of pyruvate kinase activity|up-regulation of pyruvate kinase activity|activation of pyruvate kinase activity|activation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of phosphoenolpyruvate kinase activity|upregulation of phosphoenol transphosphorylase activity|up regulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenol transphosphorylase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity owl:Class MONDO:0014869 biolink:NamedThing hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome tmpak2llvmy_mondo_relaxed.owl hydrops, lactic acidosis, and sideroblastic anemia|HLASA OMIM:617021|UMLS:C4310761|Orphanet:528091 owl:Class MONDO:0018873 biolink:NamedThing anterior cutaneous nerve entrapment syndrome Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. tmpak2llvmy_mondo_relaxed.owl rectus abdominis syndrome|ACNES|intercostal nerve syndrome UMLS:CN776944|Orphanet:51890|ICD10:G58.0 owl:Class MONDO:0030898 biolink:NamedThing immunodeficiency 76 tmpak2llvmy_mondo_relaxed.owl immunodeficiency 76|IMD76 OMIM:619164 owl:Class MONDO:0009858 biolink:NamedThing Pfeiffer-Palm-Teller syndrome Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl Pfeiffer Palm Teller syndrome|Pfeiffer-Palm-Teller syndrome|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|PPT syndrome MESH:C537889|Orphanet:2871|OMIM:261560|SCTID:726672000|ICD10:Q87.1|UMLS:C1849929|GARD:0004305 https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome owl:Class MONDO:0007674 biolink:NamedThing glucose-6-phosphate dehydrogenase-like tmpak2llvmy_mondo_relaxed.owl glucose-6-phosphate dehydrogenase-like|G6PDL OMIM:138110 owl:Class MONDO:0008349 biolink:NamedThing pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities tmpak2llvmy_mondo_relaxed.owl Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities MESH:C566733|UMLS:C1867407|OMIM:178650 owl:Class HGNC:30000 biolink:NamedThing BBS9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004442 biolink:NamedThing testis polyembryoma A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. tmpak2llvmy_mondo_relaxed.owl polyembryoma of testis|testicular polyembryoma|polyembryoma of the testis NCIT:C40962|UMLS:C1514200|DOID:8042 owl:Class MONDO:0032591 biolink:NamedThing hyperparathyroidism, transient neonatal tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism, transient neonatal|HRPTTN OMIM:618188 owl:Class MONDO:0014886 biolink:NamedThing severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive type 55|mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive type 55|MRT55|intellectual disability, autosomal recessive 55 Orphanet:488627|OMIM:617051|UMLS:C4310745 owl:Class MONDO:0007968 biolink:NamedThing melanoma tumor antigen Gp90 tmpak2llvmy_mondo_relaxed.owl Class 1 unique tumor antigen of melanoma|melanoma tumor antigen Gp90 OMIM:155770 owl:Class MONDO:0022983 biolink:NamedThing Dieterich disease tmpak2llvmy_mondo_relaxed.owl Dieterich's disease|Dieterich disease|avascular necrosis of the metacarpal head MESH:C536172|UMLS:C2931124|GARD:0000204 https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease owl:Class MONDO:0024304 biolink:NamedThing ichthyosis vulgaris The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. tmpak2llvmy_mondo_relaxed.owl fish scale disease|common ichthyosis|ichthyosis vulgaris GARD:0006752|NCIT:C84778 https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris owl:Class HGNC:6949 biolink:NamedThing MCM6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044762 biolink:NamedThing diarrheal disease secondary to increased bowel motility A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease. tmpak2llvmy_mondo_relaxed.owl diarrhea from increased bowel motility|motility-related diarrhea DOID:0050131 owl:Class GO:0048515 biolink:NamedThing spermatid differentiation The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpak2llvmy_mondo_relaxed.owl spermatid cell differentiation owl:Class MONDO:0019891 biolink:NamedThing monosomy 22 tmpak2llvmy_mondo_relaxed.owl deletion 22|Del(22)|monosomy type 22 ICD10:Q93.0|UMLS:C0795878|Orphanet:96123|NCIT:C36461 owl:Class MONDO:0009684 biolink:NamedThing muscular hypertonia, lethal tmpak2llvmy_mondo_relaxed.owl muscular hypertonia, lethal OMIM:254120|MESH:C564982|UMLS:C1850827 owl:Class MONDO:0005679 biolink:NamedThing bovine virus diarrhea-mucosal disease Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. tmpak2llvmy_mondo_relaxed.owl MESH:D001912|UMLS:C0006075|EFO:0007181 owl:Class MONDO:0015325 biolink:NamedThing cataract-deafness-hypogonadism syndrome Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. tmpak2llvmy_mondo_relaxed.owl Schaap-Taylor-Baraitser syndrome ICD10:Q87.8|Orphanet:1383|SCTID:722378009|MESH:C536626 owl:Class HGNC:6947 biolink:NamedThing MCM4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000041 biolink:NamedThing transition metal ion transport The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpak2llvmy_mondo_relaxed.owl transition metal transport owl:Class CL:0000679 biolink:NamedThing glutamatergic neuron tmpak2llvmy_mondo_relaxed.owl WBbt:0006829 cell owl:Class MONDO:0037254 biolink:NamedThing transitional cell neoplasm tmpak2llvmy_mondo_relaxed.owl transitional cell tumor|transitional cell neoplasm UMLS:C0334265|NCIT:C6783 owl:Class MONDO:0012074 biolink:NamedThing mandibuloacral dysplasia with type B lipodystrophy tmpak2llvmy_mondo_relaxed.owl MADB|MANDIBULOACRAL dysplasia with type B lipodystrophy|mandibuloacral dysplasia with type B lipodystrophy|lipodystrophy, type B, associated with Mandibuloacral dysplasia OMIM:608612|ICD10:Q87.5|MESH:C535706|GARD:0009989|Orphanet:90154|UMLS:C1837756 https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy owl:Class HGNC:20093 biolink:NamedThing ADSS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007386 biolink:NamedThing pelvic appendage lymph vessel A lymphatic vessel that is part of a pelvic appendage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012410 biolink:NamedThing Finnish upper limb-onset distal myopathy Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. tmpak2llvmy_mondo_relaxed.owl MPD3|distal myopathy type 3|myopathy, distal, 3 ICD10:G71.0|UMLS:C1864706|SCTID:763718009|Orphanet:399086|OMIM:610099 owl:Class MONDO:0044916 biolink:NamedThing extrarenal rhabdoid tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. tmpak2llvmy_mondo_relaxed.owl extrarenal rhabdoid tumor|rhabdoid tumor of soft tissue|malignant extrarenal rhabdoid neoplasm NCIT:C6586|SCTID:404089007|UMLS:C1304517 owl:Class MONDO:0023605 biolink:NamedThing Laugier-Hunziker syndrome tmpak2llvmy_mondo_relaxed.owl Laugier-Hunziker syndrome|Laugier and Hunziker pigmentation|LHS GARD:0009669|UMLS:C0406425|SCTID:238706002|ICD9:528.9 https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome owl:Class MONDO:0021292 biolink:NamedThing carcinoma in situ of gastric body A in situ carcinoma that involves the body of stomach. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of the gastric body|gastric body carcinoma in situ|stage 0 gastric body carcinoma|body of stomach carcinoma in situ|carcinoma in situ of body of stomach|carcinoma in situ of the body of the stomach|stage 0 body of stomach carcinoma|gastric body carcinoma in situ aJCC v6 and v7|body of stomach in situ carcinoma UMLS:C0345805|SCTID:92549006|NCIT:C4430 owl:Class MONDO:0020343 biolink:NamedThing alpha-crystallinopathy tmpak2llvmy_mondo_relaxed.owl CRYAB-related myofobrillar myopathy Orphanet:98910|ICD10:G71.8 owl:Class MONDO:0011133 biolink:NamedThing deaf blind hypopigmentation syndrome, Yemenite type Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. tmpak2llvmy_mondo_relaxed.owl Warburg Thomsen syndrome|Yemenite deaf-blind hypopigmentation syndrome|Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Warburg-Thomsen syndrome OMIM:601706|SCTID:721084001|UMLS:C1866425|Orphanet:3214|GARD:0005535|MESH:C536771 owl:Class MONDO:0010126 biolink:NamedThing thymic aplasia with fetal death tmpak2llvmy_mondo_relaxed.owl thymic aplasia with fetal death UMLS:C1848815|OMIM:274210|MESH:C564768 owl:Class CHEBI:38234 biolink:NamedThing DNA polymerase inhibitor Any inhibitor of a DNA polymerase. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:76815 biolink:NamedThing EC 2.7.7.* (nucleotidyltransferase) inhibitor An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*). tmpak2llvmy_mondo_relaxed.owl nucleotidyltransferase (EC 2.7.7.*) inhibitors|inhibitor of nucleotidyltransferases (EC 2.7.7.*)|nucleotidyltransferase inhibitor|inhibitors of nucleotidyltransferases|inhibitors of nucleotidyltransferases (EC 2.7.7.*)|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase inhibitors|inhibitor of nucleotidyltransferases|nucleotidyltransferase (EC 2.7.7.*) inhibitor owl:Class GO:0060632 biolink:NamedThing regulation of microtubule-based movement Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020397 biolink:NamedThing parachute tricuspid valve Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:99056 owl:Class MONDO:0044750 biolink:NamedThing lassa virus infectious disease tmpak2llvmy_mondo_relaxed.owl Lassa virus infection|infection caused by Lassa virus SCTID:721779001|UMLS:C1617072 owl:Class MONDO:0003944 biolink:NamedThing endobronchial leiomyoma A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl bronchus lung leiomyoma|lung leiomyoma of bronchus|endobronchial leiomyoma DOID:6608|UMLS:C1333386|NCIT:C5661 owl:Class MONDO:0007373 biolink:NamedThing corneal degeneration, ribbonlike, with deafness tmpak2llvmy_mondo_relaxed.owl corneal degeneration, ribbonlike, with deafness|band keratopathy with deafness UMLS:C1852556|MESH:C565157|OMIM:121450 owl:Class MONDO:0007277 biolink:NamedThing cataract-aberrant oral frenula-growth delay syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl Wellesley-Carman-French syndrome|cataract, aberrant oral frenula, and growth retardation|cataracts, aberrant oral frenula, and growth retardation|Wellesley Carmen French syndrome MESH:C536691|Orphanet:1373|SCTID:715988005|ICD10:Q87.8|OMIM:115645|GARD:0005554 owl:Class MONDO:0013334 biolink:NamedThing cocoon syndrome Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. tmpak2llvmy_mondo_relaxed.owl cocoon syndrome|fetal encasement syndrome OMIM:613630|DOID:0060647|UMLS:C3150891|Orphanet:465824 owl:Class MONDO:0019314 biolink:NamedThing cutaneous mastocytoma Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. tmpak2llvmy_mondo_relaxed.owl multiple mastocytoma|solitary mastocytoma|cutaneous local mastocytoma GARD:0012687|Orphanet:79455|ICD10:Q82.2 owl:Class NBO:0000306 biolink:NamedThing memory storage behavior "Behavior related with the ability of an organism's ability to store information and experiences." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl memory storage behaviour owl:Class MONDO:0016226 biolink:NamedThing specific language disorder tmpak2llvmy_mondo_relaxed.owl specific language disorder|dysphasia Orphanet:211053|UMLS:CN200992 owl:Class GO:1904951 biolink:NamedThing positive regulation of establishment of protein localization Any process that activates or increases the frequency, rate or extent of establishment of protein localization. tmpak2llvmy_mondo_relaxed.owl upregulation of establishment of protein localization|positive regulation of protein positioning|up-regulation of establishment of protein localization|up regulation of establishment of protein localisation|positive regulation of protein recruitment|up regulation of protein positioning|up regulation of protein recruitment|upregulation of protein positioning|activation of protein positioning|up regulation of establishment of protein localization|up-regulation of protein recruitment|upregulation of establishment of protein localisation|upregulation of protein recruitment|up-regulation of protein positioning|activation of establishment of protein localization|activation of protein recruitment|up-regulation of establishment of protein localisation|positive regulation of establishment of protein localisation|activation of establishment of protein localisation owl:Class NCBITaxon:6687 biolink:NamedThing Penaeus monodon tmpak2llvmy_mondo_relaxed.owl Penaeus bubulus|black tiger shrimp|tiger prawn|Penaeus durbani|Penaeus carinatus|Penaeus (Penaeus) monodon|giant tiger prawn GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017064 biolink:NamedThing thoracolumbosacral spina bifida aperta tmpak2llvmy_mondo_relaxed.owl UMLS:CN202423|Orphanet:268384 owl:Class MONDO:0009432 biolink:NamedThing hypopituitarism, congenital, with central diabetes insipidus tmpak2llvmy_mondo_relaxed.owl hypopituitarism, congenital, with central diabetes insipidus MESH:C565477|UMLS:C1855800|OMIM:241540 owl:Class MONDO:0004486 biolink:NamedThing endocervical type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. tmpak2llvmy_mondo_relaxed.owl cervical adenomyoma, endocervical type NCIT:C40232|UMLS:C1516405|DOID:8177 owl:Class MONDO:0016031 biolink:NamedThing facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome tmpak2llvmy_mondo_relaxed.owl faces syndrome|Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies GARD:0002221|ICD10:Q87.0|UMLS:C2931183|MESH:C536384|Orphanet:1969 owl:Class MONDO:0012080 biolink:NamedThing neuronopathy, distal hereditary motor, type 2B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene. tmpak2llvmy_mondo_relaxed.owl HMN2B|HMN 2B|HSPB1 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor caused by mutation in HSPB1|neuropathy, distal hereditary motor, type 2B|neuronopathy, distal hereditary motor, type IIB MESH:C567084|OMIM:608634|UMLS:C2608087|DOID:0111207 owl:Class CHEBI:48873 biolink:NamedThing cholinergic antagonist Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. tmpak2llvmy_mondo_relaxed.owl Anticholinergika|acetylcholine antagonists|agente anticolinergico|Anticholinergikum|anticholinergics|agent anticholinergique|anticolinergicos|cholinergic-blocking agents|agentes anticolinergicos|anticholinergic agents|anticholinergiques|acetylcholine receptor antagonist owl:Class CHEBI:38323 biolink:NamedThing cholinergic drug Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. tmpak2llvmy_mondo_relaxed.owl cholinergic agent|cholinergic drugs|cholinomimetic owl:Class MONDO:0011454 biolink:NamedThing patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. tmpak2llvmy_mondo_relaxed.owl patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies MESH:C565782|Orphanet:228190|OMIM:604381|UMLS:C1858420|ICD10:Q87.2 owl:Class MONDO:0008474 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal dominant Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal dominant MESH:C566658|GARD:0010624|UMLS:C1866717|OMIM:184100 https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda owl:Class MONDO:0002813 biolink:NamedThing lipomatous cancer A malignant mesenchymal neoplasm arising from adipocytes. tmpak2llvmy_mondo_relaxed.owl adipose tissue cancer|malignant adipose tissue neoplasm|malignant lipomatous tumor|malignant lipomatous neoplasm|malignant adipose tissue tumor|cancer of adipose tissue|malignant neoplasm of the adipose tissue|malignant tumor of adipose tissue|malignant neoplasm of adipose tissue|malignant tumor of the adipose tissue DOID:3939|SCTID:254828009|NCIT:C4501|UMLS:C0346117|ICD9:171.9 owl:Class MONDO:0005887 biolink:NamedThing oral tuberculosis Tuberculosis of the mouth, tongue, and salivary glands. tmpak2llvmy_mondo_relaxed.owl MESH:D014393|UMLS:C0041323|ICD9:017.90|SCTID:235067001|DOID:402|ICD9:528.9|EFO:0007407 owl:Class MONDO:0020346 biolink:NamedThing synaptic congenital myasthenic syndrome tmpak2llvmy_mondo_relaxed.owl synaptic congenital myasthenic syndromes ICD10:G70.2|Orphanet:98915 owl:Class CL:2000045 biolink:NamedThing foreskin melanocyte Any melanocyte that is part of a prepuce of penis. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:45:07Z cell owl:Class MONDO:0000721 biolink:NamedThing xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. tmpak2llvmy_mondo_relaxed.owl ICD9:277.2|SCTID:190919008 owl:Class HGNC:16695 biolink:NamedThing BCAP31 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016986 biolink:NamedThing congenital smooth muscle hamartoma Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:263435|UMLS:C0406819|ICD9:759.6|SCTID:239144007 owl:Class MONDO:0033947 biolink:NamedThing hereditary angioedema with normal C1Inh tmpak2llvmy_mondo_relaxed.owl Orphanet:528647 owl:Class MONDO:0030064 biolink:NamedThing episodic ataxia, type 9 tmpak2llvmy_mondo_relaxed.owl EPISODIC ATAXIA, TYPE 9|episodic ataxia, type 9|EA9 OMIM:618924 owl:Class MONDO:0008827 biolink:NamedThing progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid arthropathy of childhood|PPAC|PPD|SEDT-PA|spondyloepiphyseal dysplasia tarda with progressive arthropathy|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|progressive pseudorheumatoid chondrodysplasia|progressive pseudorheumatoid dysplasia|arthropathy, progressive pseudorheumatoid, of childhood OMIM:208230|Orphanet:1159|GARD:0009184|DOID:0090004|ICD10:Q77.7|MESH:C535387|ICD9:756.9|SCTID:254065005 owl:Class MONDO:0016380 biolink:NamedThing acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. tmpak2llvmy_mondo_relaxed.owl hypertrichosis lanuginosa, acquired GARD:0002864|UMLS:CN201274|SCTID:25967007|Orphanet:2221|ICD10:L68.1 https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired owl:Class MONDO:0100389 biolink:NamedThing acute myeloid leukemia, Trisomy 8 Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.) tmpak2llvmy_mondo_relaxed.owl AML, Trisomy 8|AML, tri8 NCIT:C162775 owl:Class MONDO:0400004 biolink:NamedThing phrynoderma Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0018533 biolink:NamedThing undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated. tmpak2llvmy_mondo_relaxed.owl undifferentiated carcinoma of liver and IBT ICD10:C22.0|UMLS:CN242153|Orphanet:424970|ICD10:C22.1|ICD10:C22.7 owl:Class MONDO:0005697 biolink:NamedThing cerebral toxoplasmosis Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) tmpak2llvmy_mondo_relaxed.owl Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis|encephalitis due to acquired toxoplasmosis MESH:D016781|DOID:10551|EFO:0007200|ICD9:130.0|SCTID:192701001 owl:Class MONDO:0020701 biolink:NamedThing brachydactyly type A1A tmpak2llvmy_mondo_relaxed.owl BDA1|BRACHYDACTYLY, type A1|Farabee-type Brachydactyly OMIM:112500 owl:Class MONDO:0011863 biolink:NamedThing prostate cancer aggressiveness quantitative trait locus on chromosome 19 tmpak2llvmy_mondo_relaxed.owl HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome 19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19 OMIM:607592 owl:Class MONDO:0016018 biolink:NamedThing diabetic embryopathy Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. tmpak2llvmy_mondo_relaxed.owl SCTID:716020005|ICD10:P00.4|UMLS:C3830518|Orphanet:1926|NCIT:C113485 owl:Class MONDO:0012964 biolink:NamedThing chromosome 15q26-qter deletion syndrome Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. tmpak2llvmy_mondo_relaxed.owl chromosome 15q26-qter deletion syndrome|Drayer syndrome|distal monosomy 15q|15q26 deletion syndrome|monosomy 15q26|distal monosomy type 15q|distal 15q deletion syndrome|telomeric 15q deletion syndrome MESH:C567232|OMIM:612626|DOID:0060397|SCTID:766050000|Orphanet:1596|ICD10:Q93.5|UMLS:C2675463 owl:Class MONDO:0054723 biolink:NamedThing spermatogenic failure 19 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 19|SPGF19 OMIM:617592|DOID:0070170 owl:Class MONDO:0018129 biolink:NamedThing autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. tmpak2llvmy_mondo_relaxed.owl autosomal recessive cerebellar ataxia due to GBA2 deficiency ICD10:G11.8|Orphanet:352641|SCTID:763348005|UMLS:CN204507 owl:Class HP:0008496 biolink:NamedThing Multiple rows of eyelashes tmpak2llvmy_mondo_relaxed.owl Extra rows of eyelashes|Two rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes UMLS:C0423848|UMLS:C3550336|SNOMEDCT_US:95339000 human_phenotype owl:Class MONDO:0006122 biolink:NamedThing calcifying nested epithelial stromal tumor of the liver A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present. tmpak2llvmy_mondo_relaxed.owl NCIT:C96830|EFO:1000149|UMLS:C3273067|ICDO:8975/1 owl:Class PATO:0001411 biolink:NamedThing structured A structural quality inhering in a bearer by virtue of the bearer's having distinct structure. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006666 biolink:NamedThing great cerebral vein The great cerebral vein is one of the large blood vessels in the skull draining the cerebrum (brain)[WP,unvetted] tmpak2llvmy_mondo_relaxed.owl great cerebral vein|vein of Galen|great cerebral vein of Galen owl:Class MONDO:0015204 biolink:NamedThing microlissencephaly Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|Orphanet:1083|UMLS:C1956147 owl:Class CHEBI:36735 biolink:NamedThing biladienes Compounds based on a biladiene skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001583 biolink:NamedThing diabetic polyneuropathy tmpak2llvmy_mondo_relaxed.owl diabetes mellitus with polyneuropathy|polyneuropathy in diabetes UMLS:C0271680|DOID:12785|SCTID:49455004|ICD10:G63.2|ICD9:357.2 owl:Class MONDO:0013976 biolink:NamedThing ectodermal dysplasia 9, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia 9, hair/nail type|ECTD9|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13|HOXC13 pure hair and nail ectodermal dysplasia DOID:0111656|UMLS:C3554127|OMIM:614931 owl:Class NCBITaxon:2683629 biolink:NamedThing Opalozoa tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015302 biolink:NamedThing nodular cutaneous amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. tmpak2llvmy_mondo_relaxed.owl PLCNA|NLCA|amyloidosis cutis nodularis atrophicans|amyloidosis nodular localized cutaneous|primary localized cutaneous nodular amyloidosis ICD10:E85.4+|UMLS:C4274331|SCTID:716704007|UMLS:C0546394|MedDRA:10056953|Orphanet:137810|ICD10:L99.0*|GARD:0010562 https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous owl:Class MONDO:0005206 biolink:NamedThing renal carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. tmpak2llvmy_mondo_relaxed.owl kidney cancer|renal carcinoma|carcinoma of kidney|renal cancer|kidney carcinoma|kidney (renal) cancer|kidney (including renal cell) cancer NCIT:C9384|DOID:4451|EFO:0002890|UMLS:C1378703 owl:Class MONDO:0018069 biolink:NamedThing distal trisomy 17q Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. tmpak2llvmy_mondo_relaxed.owl telomeric duplication 17q|trisomy 17qter|distal duplication 17q|distal trisomy type 17q SCTID:766051001|ICD10:Q92.3|Orphanet:3379 owl:Class CHEBI:30985 biolink:NamedThing 4,4'-bipyridine A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'. tmpak2llvmy_mondo_relaxed.owl gamma,gamma'-bipyridyl|4,4'-dipyridyl|4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-bpy|4,4-Bipyridin|4-(4-pyridyl)pyridine|4,4'-dipyridine|4,4'-bipyridine owl:Class CHEBI:35545 biolink:NamedThing bipyridine tmpak2llvmy_mondo_relaxed.owl Bipyridin|bipyridyl|bipyridine owl:Class MONDO:0001956 biolink:NamedThing capillary leak syndrome A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. tmpak2llvmy_mondo_relaxed.owl AVLS|Clarkson disease|SCLS|acute vascular leak syndrome|capillary leak syndrome|idiopathic capillary leak syndrome|CLS|capillary hyperpermeability syndrome|systemic capillary leak syndrome|capillary leak syndrome with monoclonal gammopathy|periodic systemic capillary leak syndrome SCTID:87730004|MESH:D019559|NCIT:C62578|ICD10:I78.8|MedDRA:10007196|GARD:0001084|Orphanet:188|DOID:14400|UMLS:C0343084|ICD9:448.9 owl:Class NCBITaxon:64895 biolink:NamedThing Borreliella tmpak2llvmy_mondo_relaxed.owl Borrelia burgdorferi group|Lyme Disease Borrelia|Borrelia burgdorferi sensu lato PMID:32320380|PMID:31836459|PMID:10758897|PMID:28141502|PMID:10515907|PMID:31454394|PMID:7981102|PMID:16585709|PMID:8934900|PMID:9336916|GC_ID:11|PMID:8573491|PMID:24744012|PMID:27930271|PMID:31722850|PMID:30154058|PMID:30586413|PMID:8995795 NCBITaxon:1618316 ncbi_taxonomy owl:Class NCBITaxon:1643685 biolink:NamedThing Borreliaceae tmpak2llvmy_mondo_relaxed.owl PMID:23908650|GC_ID:11 ncbi_taxonomy owl:Class GO:0006563 biolink:NamedThing L-serine metabolic process The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpak2llvmy_mondo_relaxed.owl L-serine metabolism owl:Class MONDO:0002077 biolink:NamedThing low implantation of placenta tmpak2llvmy_mondo_relaxed.owl ICD10:O44.0|SCTID:7792000|ICD9:641.0|DOID:1677 owl:Class MONDO:0005918 biolink:NamedThing placenta praevia Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. tmpak2llvmy_mondo_relaxed.owl placenta praevia|placenta previa NCIT:C26858|SCTID:36813001|DOID:11060|ICD10:O44|MESH:D010923|EFO:0007442 owl:Class MONDO:0002507 biolink:NamedThing gingival overgrowth Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574) tmpak2llvmy_mondo_relaxed.owl gingival enlargement ICD10:K06.1|SCTID:54711002|MESH:D019214|ICD9:523.8|DOID:3086 owl:Class MONDO:0019334 biolink:NamedThing autosomal recessive hyperinsulinism due to Kir6.2 deficiency tmpak2llvmy_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency ICD10:E16.1|Orphanet:79644|UMLS:CN206003 owl:Class MONDO:0010980 biolink:NamedThing midline malformations, multiple, with limb abnormalities and hypopituitarism tmpak2llvmy_mondo_relaxed.owl Dincsoy syndrome|Dincsoy-Salih-Patel syndrome|midline malformations, multiple, with limb abnormalities and hypopituitarism MESH:C536177|OMIM:601016|Orphanet:1678|UMLS:C1832874 owl:Class MONDO:0008068 biolink:NamedThing navicular bone, accessory tmpak2llvmy_mondo_relaxed.owl navicular bone, accessory GARD:0008543|OMIM:161600|MESH:C536002 owl:Class UBERON:0035078 biolink:NamedThing parotid gland interlobular duct Any of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010364 biolink:NamedThing X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. tmpak2llvmy_mondo_relaxed.owl nonspecific intellectual disability associated with retinitis pigmentosa|nonspecific mental retardation associated with retinitis pigmentosa|mental retardation, X-linked, with retinitis pigmentosa|Aldred syndrome|intellectual disability, X-linked, with retinitis pigmentosa|chromosome Xp11.3 deletion syndrome|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|X-linked mental handicap-retinitis pigmentosa syndrome|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|retinitis pigmentosa and intellectual disability due to del(X)(p11.3) Orphanet:85332|OMIM:300578|GARD:0008360|SCTID:719808002|ICD10:H35.5|UMLS:C0795873 owl:Class MONDO:0017026 biolink:NamedThing interstitial lung disease specific to adulthood tmpak2llvmy_mondo_relaxed.owl ILD specific to adulthood Orphanet:264735|UMLS:CN202338 owl:Class MONDO:0008043 biolink:NamedThing myoclonus-cerebellar ataxia-deafness syndrome This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl myoclonus cerebellar ataxia deafness|myoclonus, cerebellar ataxia, and deafness GARD:0003873|UMLS:C1834579|Orphanet:2589|OMIM:159800|MESH:C563549|ICD10:G11.1 owl:Class UBERON:0006008 biolink:NamedThing fibrous ring of heart A ring of ribrous tissue that surrounds the atrioventricular and arterial orifices tmpak2llvmy_mondo_relaxed.owl anulus fibrosus of heart|atrioventricular ring|aortic annulus|fibrous ring of heart|annulus fibrosus cordis|anulus fibrosus cordis|coronary tendon|Lower's ring owl:Class UBERON:0006444 biolink:NamedThing annulus fibrosus A ring of fibrous or fibrocartilaginous tissue (as of an intervertebral disk or surrounding an orifice of the heart). tmpak2llvmy_mondo_relaxed.owl anulus|fibrous ring|anulus fibrosus|fibrocartilaginous ring owl:Class MONDO:0007035 biolink:NamedThing acanthosis nigricans A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. tmpak2llvmy_mondo_relaxed.owl acanthosis nigricans (disease)|an - acanthosis nigricans|acanthosis nigricans|keratosis nigricans acanthosis nigricans (disease) ICD10:L83|DOID:3138|NCIT:C26687|Wikipedia:Acanthosis_nigricans|EFO:1000660|HP:0000956|MESH:D000052|SCTID:402599005|UMLS:C0000889 owl:Class PR:000018264 biolink:NamedThing proteolytic cleavage product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014641 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 4 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. tmpak2llvmy_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis 4|FTDALS4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 UMLS:C4225325|OMIM:616439|DOID:0110069 owl:Class HGNC:4076 biolink:NamedThing GABRA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018159 biolink:NamedThing atypical hemolytic-uremic syndrome with DGKE deficiency tmpak2llvmy_mondo_relaxed.owl D-HUS with DGKE deficiency|aHUS with DGKE deficiency|atypical HUS with DGKE deficiency|hemolytic-uremic syndrome without diarrhea with DGKE deficiency UMLS:CN204596|ICD10:D58.8|DOID:0080388|Orphanet:357008 owl:Class MONDO:0023575 biolink:NamedThing Krauss Herman Holmes syndrome tmpak2llvmy_mondo_relaxed.owl telecanthus, hypertelorism, strabismus, and pes cavus syndrome UMLS:C2931549|MESH:C537618|GARD:0003143 https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome owl:Class HP:0002104 biolink:NamedThing Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. tmpak2llvmy_mondo_relaxed.owl Apneic episodes|Apnoea|Absence of spontaneous respiration SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|UMLS:C0003578|MSH:D001049 HP:0005958|HP:0005936 human_phenotype owl:Class MONDO:0029145 biolink:NamedThing orofacial cleft 8 tmpak2llvmy_mondo_relaxed.owl Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8|OFC8|OROFACIAL CLEFT 8 DOID:0080401|OMIM:618149 owl:Class GO:0045259 biolink:NamedThing proton-transporting ATP synthase complex A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. tmpak2llvmy_mondo_relaxed.owl F1-F0 complex|hydrogen-translocating F-type ATPase complex|hydrogen-transporting ATP synthase complex|proton-transporting F-type ATPase complex owl:Class MONDO:0002325 biolink:NamedThing tooth erosion, non-bacterial Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) tmpak2llvmy_mondo_relaxed.owl generalized erosion|localized erosion|tooth erosion ICD9:521.3|MESH:D014077|ICD9:521.30|ICD9:521.34|DOID:2498|ICD10:K03.2|UMLS:C0040436|ICD9:521.35|SCTID:82212003 owl:Class MONDO:0010981 biolink:NamedThing absent tibia-polydactyly-arachnoid cyst syndrome Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. tmpak2llvmy_mondo_relaxed.owl tibia absent polydactyly arachnoid cyst|Holmes Collins syndrome|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies Orphanet:3328|GARD:0005210|MESH:C563403|OMIM:601027|SCTID:733068001 https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst owl:Class MONDO:0001539 biolink:NamedThing retinal perforation A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. tmpak2llvmy_mondo_relaxed.owl retinal break|retinal dialysis|retinal tear MESH:D012167|DOID:12514|UMLS:C0035321|SCTID:232003005 owl:Class GO:0002251 biolink:NamedThing organ or tissue specific immune response An immune response taking place in an organ or tissues such as the liver, brain, mucosa, or nervous system tissues. tmpak2llvmy_mondo_relaxed.owl immune response in organ or tissue owl:Class MONDO:0015789 biolink:NamedThing non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:E23.0|Orphanet:178025 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: non-acquired combined pituitary hormone deficiency' MONDO_0018762 owl:Class GO:0008443 biolink:NamedThing phosphofructokinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012457 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 2 tmpak2llvmy_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic, 2|IHPS2 MESH:C565208|OMIM:610260|UMLS:C1853228 owl:Class MONDO:0000421 biolink:NamedThing inborn serine deficiency An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. tmpak2llvmy_mondo_relaxed.owl rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder DOID:0050721 owl:Class MONDO:0021023 biolink:NamedThing complete androgen insensitivity syndrome Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. tmpak2llvmy_mondo_relaxed.owl CAIS|androgen insensitivity syndrome, complete|complete androgen resistance syndrome NCIT:C120191|ICD10:E34.5|ICD10:E34.51|Orphanet:99429|GARD:0010597|UMLS:CN207337|SCTID:368851000119102 https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome owl:Class MONDO:0000849 biolink:NamedThing fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. tmpak2llvmy_mondo_relaxed.owl baker's disease DOID:0080040 owl:Class GO:1990611 biolink:NamedThing regulation of cytoplasmic translational initiation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translational initiation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025303 biolink:NamedThing anaplasmosis An disease or disorder caused by infection with Anaplasma. tmpak2llvmy_mondo_relaxed.owl Anaplasma infectious disease|Anaplasma disease or disorder|Anaplasma caused disease or disorder SCTID:13906002 owl:Class HGNC:9046 biolink:NamedThing PLAGL1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0099565 biolink:NamedThing chemical synaptic transmission, postsynaptic The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol. tmpak2llvmy_mondo_relaxed.owl postsynaptic process involved in chemical synaptic transmission owl:Class HGNC:663 biolink:NamedThing ARG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033123 biolink:NamedThing exudative vitreoretinopathy 7 tmpak2llvmy_mondo_relaxed.owl EVR7|exudative vitreoretinopathy 7 OMIM:617572|UMLS:CN321863|DOID:0080264 owl:Class CHEBI:144644 biolink:NamedThing a tetracycline zwittterion tmpak2llvmy_mondo_relaxed.owl a tetracycline owl:Class MONDO:0020426 biolink:NamedThing malposition of the coronary ostium Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99090 owl:Class GO:0010955 biolink:NamedThing negative regulation of protein processing Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpak2llvmy_mondo_relaxed.owl negative regulation of protein maturation by peptide bond cleavage owl:Class HGNC:1044 biolink:NamedThing BGN tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:76668 biolink:NamedThing EC 2.7.* (P-containing group transferase) inhibitor A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*). tmpak2llvmy_mondo_relaxed.owl EC 2.7.* (P-containing group transferase) inhibitors|EC 2.7.* inhibitor|phosphorus-containing group transferase inhibitor|EC 2.7.* (phosphorus-containing group transferase) inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitor|phosphorus-containing group transferase inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitor|EC 2.7.* inhibitors owl:Class CL:0000244 biolink:NamedThing transitional epithelial cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. tmpak2llvmy_mondo_relaxed.owl FMA:66778 cell owl:Class HGNC:1394 biolink:NamedThing CACNA1G tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003952 biolink:NamedThing adult central nervous system choriocarcinoma A choriocarcinoma of the central nervous system that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl adult CNS choriocarcinoma|adult choriocarcinoma of the central nervous system|choriocarcinoma of adult central nervous system|choriocarcinoma of the adult CNS|adult central nervous system choriocarcinoma|choriocarcinoma of the adult central nervous system|choriocarcinoma of the central nervous system of adults|choriocarcinoma of adult CNS|central nervous system choriocarcinoma NCIT:C5793|UMLS:C1370505|DOID:6634 owl:Class GO:0043412 biolink:NamedThing macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034681 biolink:NamedThing vocal organ Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007032 biolink:NamedThing prune belly syndrome Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. tmpak2llvmy_mondo_relaxed.owl eagle-Barrett syndrome|PBS|syndrome of agenesis of abdominal muscles|prune belly syndrome|triad syndrome|abdominal muscle deficiency syndrome|Obrisnksy syndrome|Obrinsky syndrome|eagle-Barret syndrome|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism OMIM:100100|ICD10:Q79.4|Orphanet:2970|MedDRA:10051025|UMLS:C0033770|NCIT:C85033|GARD:0007479|ICD9:756.71|DOID:0060889|MESH:D011535|SCTID:5187006 owl:Class MONDO:0022397 biolink:NamedThing retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156168 owl:Class GO:0099003 biolink:NamedThing vesicle-mediated transport in synapse Any vesicle-mediated transport that occurs in a synapse. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000478 biolink:NamedThing transitional myocyte of sinoatrial node A transitional myocyte that is part of the sinoatrial node. tmpak2llvmy_mondo_relaxed.owl transitinal myocyte of sinuatrial node FMA:83384 cell owl:Class MONDO:0100412 biolink:NamedThing acute myeloid leukemia, monoallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.) tmpak2llvmy_mondo_relaxed.owl AML, CEBP Monoallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation|AML, monoallelic CEBPA gene mutation|AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, moCEBPA|AML, CEBPA Monoallelic Mutation|AML, C/EBPalpha Monoallelic Gene Mutation|AML, CEBPA Monoallelic Gene Mutation|AML, C/EBP-Alpha Monoallelic Gene Mutation owl:Class MONDO:0006225 biolink:NamedThing gastric mantle cell lymphoma A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl mantle cell lymphoma of the stomach|gastric mantle cell lymphoma|mantle cell lymphoma of stomach|stomach mantle cell lymphoma NCIT:C27440|UMLS:C1333780|EFO:1000272 owl:Class MONDO:0011189 biolink:NamedThing arrhythmogenic right ventricular dysplasia 4 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 4|arrhythmogenic right ventricular dysplasia type 4|fanilial arrhythmogenic right ventricular dysplasia 4|ARVD4|arrhythmogenic right ventricular cardiomyopathy 4|ARVC4 UMLS:C1865881|MESH:C566583|ICD10:I42.8|DOID:0110073|OMIM:602087 owl:Class MONDO:0018227 biolink:NamedThing hypocomplementemic urticarial vasculitis Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. tmpak2llvmy_mondo_relaxed.owl Mac Duffie syndrome|McDuffie syndrome|McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis SCTID:239945009|UMLS:C0343206|GARD:0006725|UMLS:CN204757|ICD10:M31.8|Orphanet:36412 https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis owl:Class UBERON:0004665 biolink:NamedThing muscular coat of seminal vesicle A muscular coat that is part of a seminal vesicle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle layer of seminal vesicle|tunica muscularis (vesicula seminalis)|muscular layer of seminal gland|muscular coat of seminal gland|tunica muscularis glandulae vesiculosae owl:Class CHEBI:35294 biolink:NamedThing carbopolycyclic compound A polyclic compound in which all of the ring members are carbon atoms. tmpak2llvmy_mondo_relaxed.owl carbopolycyclic compounds owl:Class CHEBI:35295 biolink:NamedThing homopolycyclic compound tmpak2llvmy_mondo_relaxed.owl homopolycyclic compounds owl:Class MONDO:0013983 biolink:NamedThing ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|ECTD11B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic UMLS:C3539920|DOID:0111654|OMIM:614941 owl:Class MONDO:0030046 biolink:NamedThing neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity|NEDBASS|NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY OMIM:618890 owl:Class MONDO:0000298 biolink:NamedThing dioctophymiasis A disease caused by infection with Dioctophyme renale. tmpak2llvmy_mondo_relaxed.owl Dioctophyme renale infection|giant kidney worm disease|Dioctophyme renale caused disease or disorder|dioctophymosis|Dioctophyme renale disease or disorder|dioctophyma renale infection|Dioctophyme renale infectious disease UMLS:C0012482|DOID:0050260|SCTID:40410004 owl:Class HP:0004921 biolink:NamedThing Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormal Mg concentration|Abnormal magnesium metabolism|Abnormality of magnesium homeostasis UMLS:C4025274|UMLS:C4020826 HP:0008274 human_phenotype owl:Class MONDO:0036990 biolink:NamedThing benign Leydig cell tumor A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion. tmpak2llvmy_mondo_relaxed.owl benign Leydig cell neoplasm|benign Leydig cell tumor|Leydig cell tumor, benign|benign interstitial cell neoplasm|adenoma, interstitial|benign interstitial cell tumor UMLS:C0334409|NCIT:C4212|ICDO:8650/0 owl:Class MONDO:0043123 biolink:NamedThing massa casaer ceulemans syndrome tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex congenita associated with lissencephaly GARD:0003407|UMLS:C2931090|MESH:C536031 owl:Class GO:0008611 biolink:NamedThing ether lipid biosynthetic process The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpak2llvmy_mondo_relaxed.owl plasmalogen biosynthetic process|ether lipid formation|ether lipid anabolism|ether lipid synthesis|ether lipid biosynthesis owl:Class MONDO:0003755 biolink:NamedThing urinary tract non-invasive transitional cell neoplasm tmpak2llvmy_mondo_relaxed.owl non-invasive urothelial neoplasm|non-invasive transitional cell neoplasm of the urinary tract DOID:6065|UMLS:C1518361|NCIT:C39854 owl:Class MONDO:0004118 biolink:NamedThing cystitis cystica A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. tmpak2llvmy_mondo_relaxed.owl DOID:7138|SCTID:13285005|ICD9:595.81|NCIT:C96230|UMLS:C0152262 owl:Class MONDO:0013268 biolink:NamedThing frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. tmpak2llvmy_mondo_relaxed.owl frontonasal dysplasia with alopecia and genital abnomality|FND2|frontonasal dysplasia type 2|craniofrontonasal dysplasia with alopecia and hypogonadism|frontonasal dysplasia 2|ALX4-related FNDAG SCTID:725029001|OMIM:613451|ICD10:Q87.0|UMLS:C3150703|Orphanet:228390|GARD:0012641 https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly owl:Class MONDO:0018932 biolink:NamedThing cirrhotic cardiomyopathy Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. tmpak2llvmy_mondo_relaxed.owl ICD10:I42.8|Orphanet:57777|SCTID:725416005|UMLS:C4511053 owl:Class NCBITaxon:499202 biolink:NamedThing Lichtheimiaceae tmpak2llvmy_mondo_relaxed.owl Mycocladiaceae|Mycocladaceae PMID:17997297|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004081 biolink:NamedThing extrahepatic bile duct clear cell adenocarcinoma A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. tmpak2llvmy_mondo_relaxed.owl extrahepatic bile duct clear cell adenocarcinoma|bile duct clear cell carcinoma|clear cell adenocarcinoma of bile duct|clear cell bile duct adenocarcinoma|bile duct clear cell adenocarcinoma|clear cell adenocarcinoma of the bile duct UMLS:C0861855|DOID:7032|NCIT:C5775 owl:Class UBERON:0003390 biolink:NamedThing mesothelium of pleural cavity A mesothelium that is part of a pleural cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pleural cavity mesothelium|pleural mesothelium|pleural cavity meso-epithelium|mesothelium of pleura|pleura|meso-epithelium of pleural cavity owl:Class HP:0010987 biolink:NamedThing Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023612 peter 2011-02-08T12:49:47Z human_phenotype owl:Class HP:0032251 biolink:NamedThing Abnormal immune system morphology tmpak2llvmy_mondo_relaxed.owl 2019-01-27 16:44:33+00:00 peter human_phenotype owl:Class MONDO:0004406 biolink:NamedThing adult central nervous system mixed germ cell tumor A mixed germ cell tumor of central nervous system that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl Central nervous system Mixed germ cell tumor|mixed germ cell tumor of central nervous system of adults|adult mixed germ cell tumor of central nervous system|adult central nervous system mixed germ cell tumor NCIT:C27402|DOID:7945|UMLS:C1332195 owl:Class MONDO:0019991 biolink:NamedThing immunotactoid glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. tmpak2llvmy_mondo_relaxed.owl Immunotactoid glomerulonephritis|fibrillary glomerulonephritis|FGN ICD10:N03.6|SCTID:73305009|NCIT:C96182|ICD9:583.9|Orphanet:97567|GARD:0012048 https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy owl:Class MONDO:0012296 biolink:NamedThing lipomyelomeningocele Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome. tmpak2llvmy_mondo_relaxed.owl familial lipomyelomeningocele|lipomyelomeningocele OMIM:609537|UMLS:C1836022|GARD:0010053|ICD10:Q05.9|SCTID:104431000119107|Orphanet:268835|MESH:C537030|ICD9:214.8 https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele owl:Class HP:0000502 biolink:NamedThing Abnormal conjunctiva morphology An abnormality of the conjunctiva. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025847 The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). human_phenotype owl:Class MONDO:0019858 biolink:NamedThing idiopathic congenital hypothyroidism Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. tmpak2llvmy_mondo_relaxed.owl Orphanet:95717|ICD10:E03.1|UMLS:C4273913|SCTID:717334008 owl:Class MONDO:0024686 biolink:NamedThing tenosynovial giant cell tumor, diffuse type A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. tmpak2llvmy_mondo_relaxed.owl diffuse tenosynovial giant cell tumor|diffuse giant cell tumor of tendon sheath|diffuse giant cell neoplasm of Tenosynovium|diffuse tenosynovial giant cell neoplasm|diffuse giant cell neoplasm of tendon sheath|diffuse giant cell tumor of the Tenosynovium|tenosynovial giant cell tumor, diffuse type|tenosynovial giant cell tumor diffuse type|diffuse giant cell tumor of Tenosynovium|pigmented villonodular synovitis|diffuse giant cell neoplasm of the Tenosynovium NCIT:C3401|ICDO:9251/0|ONCOTREE:TGCT owl:Class MONDO:0001979 biolink:NamedThing dumping syndrome A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. tmpak2llvmy_mondo_relaxed.owl dumping (jejunal) syndrome|jejunal syndrome UMLS:C0013288|MESH:D004377|EFO:1001307|ICD10:K91.1|DOID:14495|NCIT:C2994 owl:Class MONDO:0015641 biolink:NamedThing benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. tmpak2llvmy_mondo_relaxed.owl BIMSE|benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 owl:Class GO:1900075 biolink:NamedThing positive regulation of neuromuscular synaptic transmission Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. tmpak2llvmy_mondo_relaxed.owl up-regulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|up regulation of neuromuscular synaptic transmission owl:Class MONDO:0003882 biolink:NamedThing central nervous system fibrosarcoma A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpak2llvmy_mondo_relaxed.owl fibrosarcoma of the central nervous system|fibrosarcoma of CNS|fibrosarcoma of central nervous system|central nervous system fibrosarcoma|fibrosarcoma of the CNS|CNS fibrosarcoma|central nervous system fibrosarcoma (disease) DOID:6451|NCIT:C5465|UMLS:C1332879 owl:Class UBERON:0009843 biolink:NamedThing prostate epithelial cord A solid cord of prostate epithelium. tmpak2llvmy_mondo_relaxed.owl cord of prostate epithelium|epithelial cord of prostate owl:Class MONDO:0100373 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpak2llvmy_mondo_relaxed.owl AML, inv(16)(p13;q22)|AML, inv(16)(p13.1;q22)|AML, inv(16)(p13.1q22.1)|AML, inv(16)(p13.1q22)|AML, inv(16)(p13.1;q22.1)|AML, inv(16)(p13q22) NCIT:C9018 owl:Class MONDO:0018628 biolink:NamedThing HIV-associated cancer tmpak2llvmy_mondo_relaxed.owl HIV-related cancer UMLS:CN237671|Orphanet:443291 owl:Class MONDO:0006233 biolink:NamedThing gonadal teratoma A teratoma that arises from the testis or ovary. tmpak2llvmy_mondo_relaxed.owl teratoma, gonads|gonadal teratoma NCIT:C98291|UMLS:C3273942|EFO:1000282 owl:Class HP:0031691 biolink:NamedThing Severe viral infection An unusually severe viral infection. tmpak2llvmy_mondo_relaxed.owl 2017-12-17 22:28:59+00:00 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. peter human_phenotype owl:Class MONDO:0010407 biolink:NamedThing intellectual disability, X-linked syndromic, Turner type X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked syndromic, Turner type|Juberg-Marsidi Syndrome|X-linked intellectual disability, Turner type|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|mental retardation and macrocephaly syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Brooks-Wisniewski-Brown syndrome|MRXST|Brooks Wisniewski Brown syndrome|syndromic X-linked intellectual disability Turner type|X-linked intellectual disability, Brooks type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|mental retardation, X-linked, syndromic, Turner type|X-linked mental retardation Brooks type|Brooks-Wisniewski-Brown Syndrome Orphanet:3056|Orphanet:85328|UMLS:C0796272|GARD:0005610|OMIM:300612|MESH:C567476|DOID:0060829|UMLS:C2678046|GARD:0005604|DOID:0060811|ICD10:Q87.8|OMIM:309590|OMIM:300706|SCTID:725912001|MESH:C563154 owl:Class HGNC:8910 biolink:NamedThing PGR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018110 biolink:NamedThing lethal idiopathic viral infection tmpak2llvmy_mondo_relaxed.owl UMLS:CN776879|Orphanet:35064 owl:Class UBERON:0006531 biolink:NamedThing oculomotor muscle The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012972 biolink:NamedThing febrile seizures, familial, 10 tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 10|FEB10|convulsions, familial febrile, 10 DOID:0111304|OMIM:612637|UMLS:C2675251|MESH:C567218 owl:Class FOODON:03412409 biolink:NamedThing coelenterate *Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies). [https://en.wikipedia.org/wiki/Coelenterata] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003782 biolink:NamedThing uterine corpus epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl body of uterus epithelioid leiomyosarcoma|uterine corpus epithelioid leiomyosarcoma|uterine epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus DOID:6139|UMLS:C1519851|NCIT:C40174|ONCOTREE:UELMS Editor note: check ONCOTREE mapping owl:Class MONDO:0015819 biolink:NamedThing indolent primary cutaneous B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl Orphanet:178557 owl:Class MONDO:0008734 biolink:NamedThing adrenocortical carcinoma, hereditary An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl adrenocortical carcinoma, pediatric|ADCC|adrenocortical carcinoma, hereditary|hereditary adrenal cortex carcinoma OMIM:202300|UMLS:C1859972 owl:Class MONDO:0010598 biolink:NamedThing glycogen storage disease IXa1 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. tmpak2llvmy_mondo_relaxed.owl GSD VIII, formerly|hepatic glycogen phosphorylase kinase deficiency|glycogen storage disease type VIII|glycogen storage disease 8|hepatic phosphorylase kinase deficiency|PHKA2-related glycogen storage disease type IX|glycogenosis type VIII|glycogen storage disease VIII|GSD type 9A|glycogen storage disease IXa1|glycogen storage disease VIII, formerly|glycogenosis type 9A|phosphorylase kinase deficiency of liver|PHKA2 glycogen storage disease|liver glycogenosis, X-linked, type 1|glycogen storage disease caused by mutation in PHKA2|glycogenosis type 8|glycogenosis type IXa|glycogen storage disease IXa|GSD9A1|GSD VIII|glycogen storage disease type IXa|GSD9A|PYKL|glycogen storage disease type 9A|GSD type IXa SCTID:41527003|MESH:C564421|UMLS:C0017927|DOID:2751|MedDRA:10053242|DOID:0111042|EFO:1000952|GARD:0006538|ICD10:E74.0|OMIM:306000|MESH:D006015 https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8|https://github.com/monarch-initiative/mondo/issues/2128 owl:Class MONDO:0020386 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis tmpak2llvmy_mondo_relaxed.owl double outlet right ventricle, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis|DORV, Fallot type Orphanet:99043|SCTID:253298003|ICD10:Q21.3|ICD10:Q20.1 owl:Class GO:0006776 biolink:NamedThing vitamin A metabolic process The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. tmpak2llvmy_mondo_relaxed.owl vitamin A metabolism owl:Class UBERON:8410016 biolink:NamedThing descending sigmoid junction The anatomical junction between the descending colon and the sigmoid colon. tmpak2llvmy_mondo_relaxed.owl sigmoid junction|descending-sigmoid colon junction|descending-sigmoid junction owl:Class MONDO:0011029 biolink:NamedThing myeloid tumor suppressor tmpak2llvmy_mondo_relaxed.owl myeloid leukemia-related locus|myeloid tumor suppressor OMIM:601308 owl:Class MONDO:0013692 biolink:NamedThing BAP1-related tumor predisposition syndrome BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. tmpak2llvmy_mondo_relaxed.owl TPDS|tumor predisposition syndrome|tumor susceptibility linked to germline BAP1 mutations|BAP1 tumor predisposition syndrome|BAP1-related tumor predisposition syndrome GARD:0013219|Orphanet:289539|UMLS:C3280492|OMIM:614327|SCTID:765057007 owl:Class MONDO:0005704 biolink:NamedThing Ciliophora infectious disease Infections with protozoa of the phylum ciliophora. tmpak2llvmy_mondo_relaxed.owl Ciliophora caused disease or disorder|Ciliophora disease or disorder EFO:0007209|UMLS:C0085308|MESH:D016770 owl:Class CL:0002199 biolink:NamedThing oxyphil cell of parathyroid gland An oncocyte located in the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl FMA:69084 tmeehan 2010-09-02T11:33:23Z cell owl:Class MONDO:0054593 biolink:NamedThing microcephaly 18, primary, autosomal dominant tmpak2llvmy_mondo_relaxed.owl primary autosomal dominant microcephaly 18|microcephaly 18, primary, autosomal dominant|MCPH18 UMLS:C4479608|OMIM:617520|DOID:0070295 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class CHEBI:26606 biolink:NamedThing sapogenin Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids. tmpak2llvmy_mondo_relaxed.owl sapogenins|sapogenin owl:Class CHEBI:51958 biolink:NamedThing organic polycyclic compound tmpak2llvmy_mondo_relaxed.owl organic polycyclic compounds owl:Class MONDO:0001205 biolink:NamedThing hypersecretion glaucoma tmpak2llvmy_mondo_relaxed.owl ICD10:H40.82|SCTID:29369005|UMLS:C0154968|DOID:11148|ICD9:365.81 owl:Class MONDO:0018355 biolink:NamedThing Prader-Willi-like syndrome due to point mutation tmpak2llvmy_mondo_relaxed.owl PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation|PWS-like due to point mutation Orphanet:398079|UMLS:CN226095|ICD10:Q87.1 owl:Class ENVO:01001679 biolink:NamedThing fluid front A fluid interface which separates two fluid masses with differing properties. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011107 biolink:NamedThing synovial joint of pelvic girdle A synovial joint that is part of a pelvic girdle region. tmpak2llvmy_mondo_relaxed.owl joint of pelvic girdle|pelvic girdle joint owl:Class MONDO:0005352 biolink:NamedThing conduct disorder A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. tmpak2llvmy_mondo_relaxed.owl ICD9:312.89|MESH:D019955|EFO:0004216|ICD9:312.9|ICD10:F91|ICD10:F91.9|DOID:12995|SCTID:430909002|NCIT:C89329 owl:Class MONDO:0016662 biolink:NamedThing idiopathic recurrent pericarditis Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. tmpak2llvmy_mondo_relaxed.owl idiopathic relapsing pericarditis Orphanet:251307|SCTID:766704005|ICD10:I09.2 owl:Class MONDO:0012617 biolink:NamedThing intellectual disability, autosomal recessive 9 tmpak2llvmy_mondo_relaxed.owl MRT9|intellectual disability, autosomal recessive 26|mental retardation, autosomal recessive 9|mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 9 UMLS:C1970195|OMIM:611095|MESH:C567014 owl:Class GO:1903789 biolink:NamedThing regulation of amino acid transmembrane transport Any process that modulates the frequency, rate or extent of amino acid transmembrane transport. tmpak2llvmy_mondo_relaxed.owl regulation of amino acid membrane transport owl:Class MONDO:0015234 biolink:NamedThing arachnodactyly-abnormal ossification-intellectual disability syndrome Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. tmpak2llvmy_mondo_relaxed.owl arachnodactyly, abnormal ossification and mental retardation|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and intellectual disability GARD:0000381|Orphanet:1129|SCTID:720501007|MESH:C537024|ICD10:Q87.8|UMLS:C2931398 owl:Class HGNC:8032 biolink:NamedThing NTRK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007312 biolink:NamedThing Charcot-Marie-Tooth disease with ptosis and parkinsonism tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease with ptosis and parkinsonism UMLS:C1861668|MESH:C538079|OMIM:118301 owl:Class HGNC:11188 biolink:NamedThing SOS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019990 biolink:NamedThing non-amyloid fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. tmpak2llvmy_mondo_relaxed.owl fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy|non-amyloid fibrillary glomerulonephritis Orphanet:97566|UMLS:C4273674|ICD10:N03.6|GARD:0012740|SCTID:718192000 owl:Class MONDO:0019605 biolink:NamedThing immunotactoid or fibrillary glomerulopathy Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. tmpak2llvmy_mondo_relaxed.owl Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy ICD10:N03.6|Orphanet:91137|GARD:0012741 https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy owl:Class CHEBI:33452 biolink:NamedThing benzylic group Arylmethyl groups and derivatives formed by substitution: ArCR2-. tmpak2llvmy_mondo_relaxed.owl benzylic groups|benzylic group|groupe benzylique owl:Class NCBITaxon:325675 biolink:NamedThing unclassified Arteriviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1000415 biolink:NamedThing epithelial cell of gall bladder An epithelial cell that is part of the gallbladder. tmpak2llvmy_mondo_relaxed.owl FMA:67780 cell owl:Class MONDO:0017800 biolink:NamedThing pseudo-Meigs syndrome tmpak2llvmy_mondo_relaxed.owl pseudo-Demons-Meigs syndrome Orphanet:314459|ICD10:D27|UMLS:CN203759 owl:Class MONDO:0003330 biolink:NamedThing urinary tract obstruction Blockage of the normal flow of contents of the urinary tract. tmpak2llvmy_mondo_relaxed.owl obstructive uropathy|urinary obstruction NCIT:C3675|SCTID:7163005|ICD9:599.6|ICD10:N13.9|UMLS:C0178879|DOID:5200|ICD9:599.60 owl:Class MONDO:0024655 biolink:NamedThing rheumatic pericarditis tmpak2llvmy_mondo_relaxed.owl rheumatic pericarditis SCTID:28381002|UMLS:C0264747 owl:Class MONDO:0017070 biolink:NamedThing total spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268748 owl:Class MONDO:0001228 biolink:NamedThing conjunctival folliculosis tmpak2llvmy_mondo_relaxed.owl acute follicular conjunctivitis ICD10:H10.01|DOID:11219|SCTID:41308008|ICD9:372.02|UMLS:C0155143 owl:Class MONDO:0022608 biolink:NamedThing brittle bone syndrome lethal type tmpak2llvmy_mondo_relaxed.owl GARD:0001018 https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type owl:Class NCBITaxon:2509514 biolink:NamedThing Tegacovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:693996 biolink:NamedThing Alphacoronavirus tmpak2llvmy_mondo_relaxed.owl Coronavirus group 1|Coronavirus|Group 1 species GC_ID:1 NCBITaxon:446038|NCBITaxon:156438 ncbi_taxonomy owl:Class MONDO:0001410 biolink:NamedThing postmenopausal atrophic vaginitis Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause. tmpak2llvmy_mondo_relaxed.owl atrophic vaginitis|senile vaginitis ICD9:627.3|UMLS:C0221392|ICD10:N95.2|DOID:11968|EFO:1001271|UMLS:C0156409|SCTID:52441000|MESH:D059268 owl:Class UBERON:0013162 biolink:NamedThing right lateral ventricle A telencephalic ventricle that is in_the_right_side_of a telencephalon. tmpak2llvmy_mondo_relaxed.owl right telencephalic ventricle owl:Class MONDO:0014039 biolink:NamedThing mitochondrial DNA depletion syndrome 11 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome 11|mtDNA maintenance syndrome due to MGME1 deficiency|MTDPS11|PEO-myopathy-emaciation syndrome|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome type 11|mitochondrial DNA depletion syndrome caused by mutation in MGME1|progressive external ophthalmoplegia-myopathy-emaciation syndrome DOID:0080129|ICD10:G71.3|Orphanet:352447|UMLS:C3554462|OMIM:615084 owl:Class MONDO:0017005 biolink:NamedThing Y chromosome number anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:263746 owl:Class OBO:MFOMD_0000013 biolink:NamedThing depressed mood episode A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation. tmpak2llvmy_mondo_relaxed.owl The criteria below are based on the formal DSM-IV criteria for a Major Depressive Episode. A diagnoses of major depressive episode requires that the patient has—over a two-week period—experienced five or more of the symptoms below, and these must be outside the patient's normal behaviour. Either depressed mood or decreased interest or pleasure must be one of the five (although both are frequently concomitant). Mood For the better part of nearly every day, the patient reports a depressed mood or appears depressed to others. The patient may state that he or she has been feeling sad, depressed, blue, empty, "down in the dumps," hopeless, etc. If the patient is in denial about these feelings, yet appears to be on the verge of tearfulness, manifests a depressed facial expression and disposition, or appears to be overly irritable, these may also indicate the presence of depressed mood. Some people may report physical complaints (i.e., aches, pains, headaches) rather than depressed mood, and physical symptoms without physical cause are sometimes indicators of depression. Anhedonia and loss of interest For most of nearly every day, interest or pleasure is markedly decreased in nearly all activities (noted by the patient or by others). People suffering with depression tend to lose interest in things they once found enjoyable. Activities are no longer enjoyable and there is often a loss of interest in or desire for sex. People who are depressed may say, "I just don't care anymore," or "nothing matters anymore." Friends and family of the depressed person may notice that he/she has withdrawn from friends, or has neglected or quit doing activities that were once a source of enjoyment. Change in eating, appetite, or weight Although not dieting, there is a marked loss or gain of weight (such as 5% in one month) or appetite is markedly decreased or increased nearly every day. Changes in appetite take on two manifestations: under- or over-eating. In the first instance, some people never feel hungry, can go long periods without wanting to eat, may forget to eat, or if they do eat a small amount of food may be sufficient. A reduction in weight is often associated with a melancholic type of depression. In the second instance, some people tend toward an increase in appetite and may gain significant amounts of weight. They may tend to crave certain types of food such as sweets or carbohydrates. People with seasonal affective disorder (SAD) often crave foods high in carbohydrates. Weight gain is often associated with atypical depression. Sleep Nearly every day the patient sleeps excessively, known as hypersomnia, or not enough, known as insomnia. Insomnia is the most common type of sleep disturbance for people who are clinically depressed. Having difficulty falling asleep at night is known as "initial" insomnia; waking in the middle of the night and being unable to go back to sleep as "middle insomnia", and; waking too early as "terminal insomnia". Insomnia is often associated with a melancholic type of depression. A less frequent sleeping problem is oversleeping (called "hypersomnia"). This may occur in the form of sleeping for prolonged periods at night or increased sleeping during the daytime. Even with excess sleep, a person may still feel tired and sluggish during the day. People with seasonal affective disorder (SAD) may sleep longer during the winter months. Hypersomnia is often associated with an atypical depression. Motor activity Nearly every day others can see that the patient's activity is agitated or slow. People suffering from depression may be either quite agitated (psychomotor agitation), or very lethargic (psychomotor retardation) in their mannerisms and behavior. If a person is agitated, he or she may find it difficult to sit still, may pace the room, wring his/her hands, or fidget with clothes or objects. Someone with psychomotor retardation tends to move sluggishly, may move across a room very slowly, avert his/her eyes, sit slumped in a chair and speak slowly, saying little. In terms of diagnosis, the agitation or slowing down of one's demeanor must be to the degree that it can be observed by others. Fatigue Nearly every day the person experiences extreme fatigue.[3] A decrease in energy and feeling fatigued are very common symptoms for those who are clinically depressed. A person may feel tired without having engaged in any physical activity, and day-to-day tasks become difficult, including getting washed and dressed in the morning. Job tasks or housework become very tiring, and the person finds that his/her work at home, school, or on the job suffers.[4] Self-worth Nearly every day the patient feels worthless or inappropriately guilty. These feelings are not just about being depressed, they may be delusional. Depressed people may think of themselves in very negative, unrealistic ways such as manifesting a preoccupation with past "failures", personalisation of trivial events, or believing that minor mistakes prove their inadequacy. They also may have an unrealistic sense of personal responsibility and see things beyond their control as being their fault. Additionally, self-loathing is common in clinical depression, and can lead to a downward spiral when combined with other symptoms. Concentration Noted by the patient or by others, nearly every day the patient is indecisive or has trouble thinking or concentrating. A person with depression frequently experiences negative and pessimistic thoughts, and reports that his/her ability to think, concentrate, or make decisions becomes impaired. Memory and distraction problems are common. This problem can be notably pronounced, causing significant difficulty in functioning for those involved in intellectually demanding activities. Thoughts of death The patient has had repeated thoughts about death (other than the fear of dying), suicide (with or without a plan) or has made a suicide attempt. The frequency and intensity of thoughts about suicide can range from believing that friends and family would be better off if one were dead, to frequent thoughts about committing suicide (generally related to wishing to stop the emotional pain), to detailed plans about how the suicide would be carried out. Less severely suicidal people may have regular thoughts of suicide, while those who are more severely suicidal may have made specific plans and decided upon a day and location for the suicide attempt. Thoughts of suicide occur mostly when triggered. Thoughts of suicide happen more frequently than normal. Diagnostic caveats In diagnosing the symptoms a trained therapist must take the following into account: These symptoms must cause clinically important distress, or impair work, social or personal functioning, and they should not fulfil the criteria for Mixed Episode. The symptoms are not due to the direct physiological effects of a substance (e.g., abuse of a drug or medication) or a general medical condition (e.g., hypothyroidism). Other than in the case of severe symptoms (severely impaired functioning, severe preoccupation with worthlessness, ideas of suicide, delusions or hallucinations or psychomotor retardation), the episode should not have begun within two months of the loss of a loved one. [Wikipedia: http://en.wikipedia.org/wiki/Major_depressive_episode] owl:Class CL:2000052 biolink:NamedThing umbilical artery endothelial cell Any endothelial cell of artery that is part of a umbilical cord. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=8010 TermGenie 2014-10-06T19:01:48Z cell owl:Class NCBITaxon:775 biolink:NamedThing Rickettsiaceae tmpak2llvmy_mondo_relaxed.owl PMID:2592342|PMID:11760958|GC_ID:11|PMID:8240958 ncbi_taxonomy owl:Class MONDO:0011129 biolink:NamedThing glaucoma type 1C tmpak2llvmy_mondo_relaxed.owl GLC1C|glaucoma 1, primary open angle, C OMIM:601682|GARD:0002484|UMLS:C1866483 https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c owl:Class UBERON:0011773 biolink:NamedThing upper jaw opening An anatomical space that is part of a bone of upper jaw. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015807 biolink:NamedThing myopic macular degeneration tmpak2llvmy_mondo_relaxed.owl myopic maculopathy ICD10:H35.3|Orphanet:178493|UMLS:C0730271|SCTID:312898002|EFO:0009201 owl:Class MONDO:0012364 biolink:NamedThing dilated cardiomyopathy 1Q A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, 1Q|dilated cardiomyopathy type 1Q|CMD1Q ICD10:I42.0|DOID:0110442|OMIM:609915|MESH:C563688|UMLS:C1835926 owl:Class MONDO:0003079 biolink:NamedThing mastocytoma A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. tmpak2llvmy_mondo_relaxed.owl mastocytoma SCTID:404171008|ICD9:238.5|ICDO:9740/1|NCIT:C9303|UMLS:C0024897 owl:Class MONDO:0004327 biolink:NamedThing sphenoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpak2llvmy_mondo_relaxed.owl sphenoid sinus Schneiderian papilloma|Schneiderian papilloma of the sphenoid sinus|Schneiderian papilloma of sphenoid sinus DOID:7679|UMLS:C1336038|NCIT:C6838 owl:Class UBERON:0008433 biolink:NamedThing lumbar vertebral arch A neural arch that is part of a lumbar vertebra. tmpak2llvmy_mondo_relaxed.owl arch of lumbar vertebra owl:Class MONDO:0014508 biolink:NamedThing vitelliform macular dystrophy 4 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene. tmpak2llvmy_mondo_relaxed.owl macular dystrophy, vitelliform, type 4|vitelliform macular dystrophy caused by mutation in IMPG1|macular dystrophy, vitelliform, 4|VMD4|IMPG1 vitelliform macular dystrophy UMLS:C4015342|OMIM:616151 owl:Class HP:0010551 biolink:NamedThing Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023792 peter 2009-10-01T08:36:05Z human_phenotype owl:Class MONDO:0018600 biolink:NamedThing congenital abducens nerve palsy tmpak2llvmy_mondo_relaxed.owl congenital CNVI palsy|benign congenital sixth cranial nerve palsy ICD10:Q07.8|Orphanet:440233 owl:Class CHEBI:29793 biolink:NamedThing hydridodioxygen(1+) tmpak2llvmy_mondo_relaxed.owl dioxidenium|HO2(+)|[HO2](+)|hydridodioxygen(1+)|HOO(+) owl:Class GO:0016410 biolink:NamedThing N-acyltransferase activity Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0036688 biolink:NamedThing rhabdomyoma A benign mesenchymal tumor arising from skeletal or cardiac muscle. tmpak2llvmy_mondo_relaxed.owl rhabdomyoma, benign|rhabdomyoma|Rhabdomyomatous neoplasm SCTID:402877008|ICDO:8900/0|NCIT:C3358|UMLS:C0035411|MESH:D012207 owl:Class MONDO:0001464 biolink:NamedThing sigmoid colon cancer A malignant neoplasm involving the sigmoid colon. tmpak2llvmy_mondo_relaxed.owl malignant tumor of sigmoid colon|malignant sigmoid colon neoplasm|malignant neoplasm of sigmoid colon|cancer of sigmoid colon|Ca sigmoid colon|sigmoid colon cancer SCTID:363410008|ICD9:153.3|UMLS:C0153436|DOID:12192|ICD10:C18.7 owl:Class UBERON:0009624 biolink:NamedThing lumbar nerve The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions. tmpak2llvmy_mondo_relaxed.owl nervus lumbalis|nervi lumbales|lumbar spinal nerve owl:Class MONDO:0013660 biolink:NamedThing arthrogryposis, Perthes disease, and upward gaze palsy tmpak2llvmy_mondo_relaxed.owl APUG|arthrogryposis, Perthes disease, and upward gaze palsy UMLS:C3280309|OMIM:614262 owl:Class MONDO:0009815 biolink:NamedThing autosomal recessive osteopetrosis 1 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene. tmpak2llvmy_mondo_relaxed.owl osteopetrosis, autosomal recessive 1|OPTB1|osteopetrosis, infantile malignant 1|osteopetrosis, autosomal recessive type 1|TCIRG1 autosomal recessive osteopetrosis|marble bones, autosomal recessive|osteopetrosis infantile malignant 1|osteopetrosis autosomal recessive 1|autosomal recessive osteopetrosis 1|marble bones autosomal recessive|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|Albers-Schonberg disease, autosomal recessive|TCIRG1 autosomal recessive malignant osteopetrosis|infantile malignant osteopetrosis 1|autosomal recessive osteopetrosis type 1|autosomal recessive osteopetrosis caused by mutation in TCIRG1|autosomal recessive Albers-Schonberg disease OMIM:259700|MESH:C564915|GARD:0002579|DOID:0110942 https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 owl:Class MONDO:0008333 biolink:NamedThing pseudoxanthoma elasticum, forme fruste An autosomal dominant form of PXE. tmpak2llvmy_mondo_relaxed.owl pseudoxanthoma elasticum, forme fruste|pseudoxanthoma elasticum, heterozygous OMIM:177850|GARD:0010104 https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste owl:Class MONDO:0005906 biolink:NamedThing peritonsillar abscess An abscess that develops in the space surrounding one or both palatine tonsils. tmpak2llvmy_mondo_relaxed.owl quinsy EFO:0007429|ICD9:475|SCTID:15033003|ICD10:J36|UMLS:C0031157|MESH:D000039|NCIT:C128322 owl:Class UBERON:0003543 biolink:NamedThing left lung respiratory bronchiole A respiratory bronchiole that is part of a left lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bronchiolus respiratorius of left lung|left lung bronchiolus respiratorius|respiratory bronchiole of left lung owl:Class HP:0000998 biolink:NamedThing Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. tmpak2llvmy_mondo_relaxed.owl Increased hair growth on body|Excessive hair growth SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001|UMLS:C0020555 human_phenotype owl:Class MONDO:0011949 biolink:NamedThing Thai symphalangism syndrome tmpak2llvmy_mondo_relaxed.owl Thai symphalangism syndrome OMIM:608028|MESH:C564303|UMLS:C1842679|GARD:0003557 https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome owl:Class GO:0004466 biolink:NamedThing long-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. tmpak2llvmy_mondo_relaxed.owl palmitoyl-CoA dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity|palmitoyl-coenzyme A dehydrogenase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity owl:Class HGNC:25660 biolink:NamedThing TTC21B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014791 biolink:NamedThing Luscan-Lumish syndrome tmpak2llvmy_mondo_relaxed.owl Luscan-Lumish syndrome|LLs|Luscan-Lumish syndrome; LLs UMLS:C4085873|OMIM:616831 owl:Class UBERON:0007589 biolink:NamedThing ciliated columnar oviduct epithelium A ciliated columnar epithelium that is part of a oviduct. tmpak2llvmy_mondo_relaxed.owl epithelium of uterine tube|uterine tube epithelium owl:Class UBERON:0006682 biolink:NamedThing hypoglossal canal The hypoglossal canal is a bony canal in the occipital bone of the skull. tmpak2llvmy_mondo_relaxed.owl anterior condylar canal|hyperglossal canal|canalis nervi hypoglossi owl:Class MONDO:0006849 biolink:NamedThing mastitis Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. tmpak2llvmy_mondo_relaxed.owl inflammatory breast disease|breast infection|breast inflammation|inflammatory disease of breast|inflammation of breast UMLS:C0024894|NCIT:C53662|EFO:1001034|MedDRA:10026883|MESH:D008413|UMLS:C0392317|SCTID:45198002|DOID:10690 owl:Class MONDO:0004702 biolink:NamedThing uterine cervix leukoplakia The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. tmpak2llvmy_mondo_relaxed.owl leukoplakia of cervix uteri|leukoplakia of the cervix|cervical leukoplakia|leukoplakia of the uterine cervix|cervix leukoplakia|leukoplakia of uterine cervix|cervix uteri leukoplakia|leukoplakia of cervix (uteri)|leukoplakia of cervix|leukoplakia of the cervix uteri DOID:9043|ICD9:622.2|NCIT:C3976|SCTID:50923006|ICD10:N88.0|UMLS:C0269194 owl:Class MONDO:0043243 biolink:NamedThing leukoplakia A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpak2llvmy_mondo_relaxed.owl leukoplakia|leukokeratosis|lesions, leukoplakic|leukoplakias|leukokeratoses|leukoplakic lesions|leukoplakic lesion|keratotic plaque|lesion, leukoplakic MESH:D007971|GARD:0006897|UMLS:C0023531|NCIT:C3186|SCTID:274134003 owl:Class MONDO:0012247 biolink:NamedThing spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia 27|spinocerebellar ataxia type 27|cerebellar ataxia autosomal dominant FGF14-related|SCA27 MESH:C537204|SCTID:719252002|UMLS:C4304846|DOID:0050976|UMLS:C1836383|GARD:0009963|OMIM:609307|ICD10:G11.8|Orphanet:98764 owl:Class MONDO:0008609 biolink:NamedThing Tristichiasis tmpak2llvmy_mondo_relaxed.owl eyelashes, three rows of|Tristichiasis OMIM:190800 owl:Class MONDO:0009220 biolink:NamedThing visceral steatosis, congenital tmpak2llvmy_mondo_relaxed.owl steatosis of liver|White liver disease|visceral steatosis, congenital|fatty metamorphosis of viscera|fatal neonatal hepatic steatosis|visceral steatosis|fatty liver disease, congenital GARD:0008514|OMIM:228100|SCTID:270881008|ICD9:571.8 owl:Class MONDO:0012284 biolink:NamedThing nephropathy, progressive, with deafness tmpak2llvmy_mondo_relaxed.owl nephropathy, progressive, with deafness|Nede|Alport/focal segmental glomerulosclerosis-like syndrome MESH:C563713|UMLS:C1836119|OMIM:609469 owl:Class MONDO:0007341 biolink:NamedThing cleidorhizomelic syndrome Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl rhizomelic shortness with clavicular defect|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle|Wallis Zieff Goldblatt syndrome|Wallis-Zieff-Goldblatt syndrome|cleidorhizomelic syndrome|cleido rhizomelic syndrome OMIM:119650|ICD10:Q77.8|GARD:0005532|UMLS:C1861515|SCTID:719471002|Orphanet:1453|MESH:C536428 https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome owl:Class MONDO:0011689 biolink:NamedThing dyslexia, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl DYX6|dyslexia, susceptibility to, 6 OMIM:606616 owl:Class HGNC:3259 biolink:NamedThing EIF2B3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001526 biolink:NamedThing labia minora cancer A malignant neoplasm that affects the labia minora. tmpak2llvmy_mondo_relaxed.owl cancer of labium minora|malignant neoplasm of the labia minora|malignant neoplasm of labium minus|malignant labia minora tumor|labium minora cancer|malignant labia minora neoplasm|malignant neoplasm of labium minora|malignant tumor of labia minora|malignant labium minora neoplasm|malignant tumor of the labia minora|malignant neoplasm of labia minora UMLS:C0496815|DOID:1243|ICD9:184.2|SCTID:363447008|ICD10:C51.1|NCIT:C7637 owl:Class UBERON:0004791 biolink:NamedThing thymus trabecula the thymic connective tissue which extends into the parenchyma tmpak2llvmy_mondo_relaxed.owl thymic trabecula|trabecula of thymus gland|thymus gland trabecula|trabecula of thymus owl:Class MONDO:0000451 biolink:NamedThing primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. tmpak2llvmy_mondo_relaxed.owl primary-progressive MS|PPMS EFO:0008520|UMLS:C0751964|SCTID:428700003|DOID:0050784 owl:Class MONDO:0032830 biolink:NamedThing snijders blok-fisher syndrome tmpak2llvmy_mondo_relaxed.owl SNIBFIS|SNIJDERS BLOK-FISHER SYNDROME OMIM:618604 owl:Class SO:0001507 biolink:NamedThing variant_collection A collection of one or more sequences of an individual. tmpak2llvmy_mondo_relaxed.owl variant collection owl:Class MONDO:0004361 biolink:NamedThing adult spinal cord ependymoma An ependymoma of the spinal cord occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult spinal cord ependymoma|spinal cord ependymoma of adults|spinal cord ependymoma NCIT:C27399|DOID:7788|UMLS:C1332215 owl:Class MONDO:0024625 biolink:NamedThing disorder of lacrimal gland A disease that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl disease of lacrimal gland|disease or disorder of lacrimal gland|lacrimal gland disease|disorder of lacrimal gland|lacrimal gland disease or disorder UMLS:C0235228|SCTID:95766002 owl:Class MONDO:0008049 biolink:NamedThing myopathy, distal, infantile-onset tmpak2llvmy_mondo_relaxed.owl myopathy, distal, infantile-onset DOID:0070196|UMLS:C1834556|UMLS:C4011725|OMIM:160300 owl:Class MONDO:0060577 biolink:NamedThing neurodevelopmental disorder with microcephaly, ataxia, and seizures tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, ataxia, and seizures|NEDMAS OMIM:617709|UMLS:C4540188 owl:Class MONDO:0014079 biolink:NamedThing restless legs syndrome, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl RLS8|restless legs syndrome, susceptibility to, 8 OMIM:615197 owl:Class MONDO:0007628 biolink:NamedThing foveal hypoplasia 1 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. tmpak2llvmy_mondo_relaxed.owl foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|O Donnell Pappas syndrome|FVH1|PAX6 foveal hypoplasia|foveal hypoplasia type 1|foveal hypoplasia, presenile cataract|foveal hypoplasia 1|foveal hypoplasia caused by mutation in PAX6|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract UMLS:C3805604|GARD:0000406|OMIM:136520 owl:Class MONDO:0012491 biolink:NamedThing macroglobulinemia, Waldenstrom, 2 tmpak2llvmy_mondo_relaxed.owl macroglobulinemia, WALDENSTROM, susceptibility to, 2|WM2 OMIM:610430 owl:Class MONDO:0100280 biolink:NamedThing Waldenstrom macroglobulinemia tmpak2llvmy_mondo_relaxed.owl Waldenstrom's syndrome|Waldenstroem's macroglobulinemia|Waldenström macroglobulinemia|lymphoplasmacytic lymphoma with IgM gammopathy|Waldenstrom's macroglobulinemia|Waldenstrom's macroglobulinaemia|macroglobulinemia of Waldenstrom|Waldenstrom macroglobulinemia Orphanet:33226|ICD10:C88.0|GARD:0007872|NCIT:C80307|MedDRA:10047801|DOID:0060901|UMLS:C0024419|OMIMPS:153600|MESH:D008258|ONCOTREE:WM http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:197563 biolink:NamedThing Mandibulata tmpak2llvmy_mondo_relaxed.owl mandibulates PMID:11557979|GC_ID:1|PMID:9727836 ncbi_taxonomy owl:Class NCBITaxon:6656 biolink:NamedThing Arthropoda tmpak2llvmy_mondo_relaxed.owl arthropods GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013593 biolink:NamedThing autosomal dominant nonsyndromic deafness 64 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|deafness, autosomal dominant 64|DIABLO autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 64|autosomal dominant nonsyndromic deafness type 64|DFNA64|autosomal dominant deafness 64 UMLS:C3279948|DOID:0110585|OMIM:614152|ICD10:H90.3 owl:Class MONDO:0003370 biolink:NamedThing retroperitoneal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl retroperitoneal space leiomyosarcoma|retroperitoneal leiomyosarcoma|leiomyosarcoma of retroperitoneal space DOID:5284|NCIT:C27904|UMLS:C2187547 owl:Class MONDO:0001474 biolink:NamedThing chronic salpingo-oophoritis Chronic form of salpingo-oophoritis. tmpak2llvmy_mondo_relaxed.owl chronic salpingo-oophoritis|chronic salpingitis and oophoritis|salpingo-oophoritis, chronic|chronic salpingitis/oophoritis ICD10:N70.1|ICD9:614.1|UMLS:C0156328|DOID:12265|ICD10:N70.13|SCTID:198142001 owl:Class MONDO:0014492 biolink:NamedThing woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. tmpak2llvmy_mondo_relaxed.owl keratoderma with woolly hair type IV|woolly hair-palmoplantar hyperkeratosis syndrome|palmoplantar keratoderma and woolly hair|PPKWH|KWWH type IV SCTID:764108000|Orphanet:420686|UMLS:C4015202|ICD10:Q82.8|OMIM:616099 owl:Class GO:0016999 biolink:NamedThing antibiotic metabolic process The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. tmpak2llvmy_mondo_relaxed.owl antibiotic metabolism owl:Class MONDO:0008365 biolink:NamedThing recombinant 8 syndrome Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Rec8 syndrome|San Luis Valley recombinant chromosome 8 syndrome|chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|RECOMBINANT chromosome 8 syndrome|San Luis Valley syndrome|Recombinant chromosome 8 syndrome|Duplication 8q/deletion 8p|Rec(8) syndrome MESH:C535296|GARD:0009698|OMIM:179613|SCTID:718189004|UMLS:C0795822|Orphanet:96167|ICD10:Q99.8 owl:Class MONDO:0007226 biolink:NamedThing brachydactyly-nystagmus-cerebellar ataxia syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. tmpak2llvmy_mondo_relaxed.owl Biemond syndrome|brachydactyly, nystagmus and cerebellar ataxia|brachydactyly - nystagmus - cerebellar ataxia|brachydactyly-NYSTAGMUS-cerebellar ataxia|Biemond syndrome type 1 Orphanet:1246|ICD10:Q87.8|GARD:0000971|OMIM:113400|SCTID:205828009|MESH:C566192|GARD:0000881|ICD9:759.89 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 owl:Class MONDO:0008313 biolink:NamedThing pelvic organ prolapse, susceptibility to tmpak2llvmy_mondo_relaxed.owl pelvic organ prolapse, susceptibility to, 1|pelvic organ prolapse, susceptibility to|prolapse of vagina and rectum|rectal prolapse|vaginal prolapse OMIM:176780 owl:Class MONDO:0023000 biolink:NamedThing dobrow syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001895 https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome owl:Class HP:0000025 biolink:NamedThing Functional abnormality of male internal genitalia tmpak2llvmy_mondo_relaxed.owl UMLS:C4025898 human_phenotype owl:Class MONDO:0012590 biolink:NamedThing XFE progeroid syndrome A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. tmpak2llvmy_mondo_relaxed.owl XPF-ERCC1 progeroid syndrome|XFE progeroid syndrome|XFEPS GARD:0010628|MESH:C567043|OMIM:610965|UMLS:C1970416|DOID:0060590 https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome owl:Class MONDO:0021001 biolink:NamedThing hemochromatosis type 1 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease tmpak2llvmy_mondo_relaxed.owl symptomatic form of hemochromatosis type 1|HFE-associated hereditary hemochromatosis|classic hemochromatosis|symptomatic form of HFE-related hereditary hemochromatosis|hemochromatosis type 1|hemochromatosis, type 1|HFE1|HFE-related hemochromatosis|symptomatic form of classic hemochromatosis|C282Y/C282Y hemochromatosis DOID:0111029|UMLS:CN242134|ICD10:E83.1|ICD9:275.01|EFO:0006513|Orphanet:465508|OMIM:235200|NCIT:C84764|GARD:0010417 Editor note: check ORDO entry owl:Class MONDO:0019888 biolink:NamedThing distal trisomy 20q Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. tmpak2llvmy_mondo_relaxed.owl distal trisomy type 20q|telomeric duplication 20q|trisomy 20qter|distal duplication 20q ICD10:Q92.3|Orphanet:96107|SCTID:764500002 owl:Class NCBITaxon:2732422 biolink:NamedThing Quintoviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732415 biolink:NamedThing Cossaviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019679 biolink:NamedThing brachydactyly type A7 Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. tmpak2llvmy_mondo_relaxed.owl brachydactyly, Smorgasbord type|brachydactyly Smorgasbord type ICD10:Q73.8|UMLS:CN206603|Orphanet:93397|GARD:0000984|SCTID:720571006 https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 owl:Class CL:0002110 biolink:NamedThing B220-low CD38-positive naive B cell A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002109 biolink:NamedThing B220-positive CD38-positive naive B cell A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpak2llvmy_mondo_relaxed.owl B220+CD38+ naive B cell|CD38+B220+ naive B cell|B220+CD38+ naive B-cell|B220+CD38+ naive B lymphocyte|B220-positive CD38-positive naive B lymphocyte|B220-positive CD38-positive naive B-cell|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B-lymphocyte|CD38+B220+ naive B lymphocyte|CD38+B220+ naive B-cell cell owl:Class MONDO:0007890 biolink:NamedThing lentiginosis, centrofacial neurodysraphic tmpak2llvmy_mondo_relaxed.owl lentiginosis, Touraine type|lentiginosis, centrofacial neurodysraphic OMIM:151000|UMLS:C1835484|MESH:C563630 owl:Class MONDO:0003347 biolink:NamedThing inflammatory leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. tmpak2llvmy_mondo_relaxed.owl inflammatory leiomyosarcoma DOID:5251|UMLS:C1334179|NCIT:C27495 owl:Class HGNC:12736 biolink:NamedThing WIPF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006840 biolink:NamedThing lymphangiectasis Dilatation of the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl lymphangiectasia EFO:1001025|NCIT:C97087|GARD:0006933|UMLS:C0024214|MESH:D008200 https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis owl:Class MONDO:0007591 biolink:NamedThing facial hypertrichosis tmpak2llvmy_mondo_relaxed.owl facial hypertrichosis|facial hypertrichosis (disease) facial hypertrichosis (disease) HP:0002219|MESH:C565029|OMIM:134000 owl:Class MONDO:0010156 biolink:NamedThing Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|SPG20|autosomal recessive spastic paraplegia 20|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraplegia 20 (Troyer syndrome)|Troyer syndrome|spastic paraplegia type 20|hereditary spastic paraplegia 20|autosomal recessive spastic paraplegia type 20|spastic paraplegia 20, autosomal recessive|autosomal recessive spastic paraplegia Troyer type|Cross-McKusick syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spastic paraplegia, autosomal recessive, Troyer type OMIM:275900|ICD9:335.29|DOID:0050886|ICD10:G11.4|MESH:C536858|GARD:0005372|UMLS:C0393559|SCTID:230264003|Orphanet:101000 https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome owl:Class GO:0060376 biolink:NamedThing positive regulation of mast cell differentiation Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015369 biolink:NamedThing Joubert syndrome and related disorders Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome and related disorders|JSRD UMLS:CN199461|Orphanet:140874 owl:Class MONDO:0019387 biolink:NamedThing macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206081|ICD10:Q87.0|Orphanet:83619 owl:Class MONDO:0003550 biolink:NamedThing esophageal adenosquamous carcinoma An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. tmpak2llvmy_mondo_relaxed.owl esophageal adenosquamous cancer|esophagus adenosquamous carcinoma|esophageal adenosquamous carcinoma NCIT:C27421|DOID:5625|UMLS:C2063886 owl:Class MONDO:0004677 biolink:NamedThing tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. tmpak2llvmy_mondo_relaxed.owl keratomycosis nigricans|microsporosis nigra|infection by Cladosporium werneckii|Tinea palmaris nigra UMLS:C0152067|SCTID:183342005|ICD9:111.1|DOID:8912|ICD10:B36.1 owl:Class GO:0070295 biolink:NamedThing renal water absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. tmpak2llvmy_mondo_relaxed.owl nephron water absorption|renal water reabsorption owl:Class GO:0003097 biolink:NamedThing renal water transport The directed movement of water (H2O) by the renal system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004307 biolink:NamedThing sarcomatosis of the meninges A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. tmpak2llvmy_mondo_relaxed.owl meninges sarcomatosis|meningeal cluster sarcomatosis|meningeal sarcomatosis|sarcomatosis of meninges|sarcomatosis of the meninges|meningeal sarcomatosis (morphologic abnormality) UMLS:C0334612|DOID:7613|NCIT:C4334|ICDO:9539/3 owl:Class MONDO:0005628 biolink:NamedThing male breast carcinoma A malignant neoplasm involving the male breast. tmpak2llvmy_mondo_relaxed.owl carcinoma of male breast|breast cancer, male|malignant neoplasm of male breast|Male breast carcinoma|Male breast cancer|carcinoma of Male breast|male breast cancer|neoplasm of male breast|breast cancer in men|carcinoma of the Male breast|male breast carcinoma DOID:1614|SCTID:372095001|MESH:D018567|NCIT:C3862|ICD9:175.9|UMLS:C0242788|GARD:0009312|EFO:0006861|UMLS:C0242787|UMLS:C0238033 owl:Class NCBITaxon:2697495 biolink:NamedThing Spiralia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008486 biolink:NamedThing steatocystoma multiplex-natal teeth syndrome The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. tmpak2llvmy_mondo_relaxed.owl STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex UMLS:C1866650|MESH:C537487|OMIM:184510|Orphanet:3184|GARD:0005004|ICD10:L72.2 owl:Class HP:0100786 biolink:NamedThing Hypersomnia tmpak2llvmy_mondo_relaxed.owl Excessive sleepiness MSH:D006970|UMLS:C0917799|SNOMEDCT_US:77692006 doelkens 2011-06-07T06:15:07Z human_phenotype owl:Class MONDO:0015217 biolink:NamedThing non-syndromic developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl isolated developmental defect of the eye|nonsyndromic developmental defect of the eye Orphanet:108985 owl:Class HGNC:12649 biolink:NamedThing VAPB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0026767 biolink:NamedThing immunodeficiency 74, COVID-19-related, X-linked tmpak2llvmy_mondo_relaxed.owl IMD74|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED|respiratory insufficiency due to SARS-CoV-2 viral infection|TLR7 deficiency OMIM:301051 owl:Class MONDO:0008227 biolink:NamedThing peripheral dysostosis tmpak2llvmy_mondo_relaxed.owl peripheral dysostosis|dysostosis peripheral OMIM:170700|ICD10:Q74.8|GARD:0002015|UMLS:CN074256|Orphanet:1795 https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral owl:Class GO:0034761 biolink:NamedThing positive regulation of iron ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl positive regulation of iron ion membrane transport|up regulation of transmembrane iron ion transport|positive regulation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|upregulation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|activation of transmembrane iron ion transport owl:Class GO:0060100 biolink:NamedThing positive regulation of phagocytosis, engulfment Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007231 biolink:NamedThing brachytelephalangy-dysmorphism-Kallmann syndrome Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome MESH:C537101|OMIM:113480|UMLS:C2931421|Orphanet:1295|ICD10:Q87.0 owl:Class MONDO:0013661 biolink:NamedThing combined malonic and methylmalonic acidemia Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. tmpak2llvmy_mondo_relaxed.owl combined malonic and methylmalonic acidemia|combined malonic and methylmalonic aciduria|CMAMMA Orphanet:289504|SCTID:702365002|ICD10:E71.1|GARD:0010818|MESH:C580002|OMIM:614265|DOID:0111263|UMLS:C3280314 owl:Class MONDO:0011970 biolink:NamedThing rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome tmpak2llvmy_mondo_relaxed.owl EPRPDC|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|Re-ped-Wc UMLS:C1842531|MESH:C535499|DOID:0111645|Orphanet:163727|OMIM:608105 owl:Class MONDO:0012351 biolink:NamedThing zygodactyly type 1 tmpak2llvmy_mondo_relaxed.owl zygodactyly type 1|SD1, Weidenreich type|ZYGODACTYLY 1|syndactyly type 1a|SD1a|syndactyly type 1, Weidenreich type|Zygodactyly, Weidenreich type|Zd1 ICD10:Q70.3|MESH:C565223|OMIM:609815|Orphanet:295187|UMLS:C1853294 owl:Class MONDO:0022934 biolink:NamedThing Davis Lafer syndrome tmpak2llvmy_mondo_relaxed.owl Lafer Davis syndrome|mental retardation unusual facies Davis Lafer type|intellectual disability unusual facies Davis Lafer type UMLS:C2931077|MESH:C535989|GARD:0001674 https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome owl:Class MONDO:0000969 biolink:NamedThing pleural lipoma A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. tmpak2llvmy_mondo_relaxed.owl lipoma of pleura|pleura lipoma|pleural lipoma|lipoma of the pleura SCTID:2460001000004103|UMLS:C1335434|NCIT:C6644|DOID:10195 owl:Class MONDO:0021457 biolink:NamedThing benign neoplasm of pleura A benign neoplasm that involves the pleura. tmpak2llvmy_mondo_relaxed.owl benign pleural neoplasm|benign tumor of the pleura|benign neoplasm of the pleura|pleura benign neoplasm|benign pleural tumor|benign tumor of pleura ICD9:212.4|NCIT:C3603|UMLS:C0153955|SCTID:92298003 owl:Class MONDO:0026762 biolink:NamedThing Wieacker-Wolff syndrome, female-restricted tmpak2llvmy_mondo_relaxed.owl WRWFFR|WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED OMIM:301041 owl:Class MONDO:0018304 biolink:NamedThing Schnitzler syndrome A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. tmpak2llvmy_mondo_relaxed.owl chronic urticaria with gammopathy|chronic urticaria with gammapathy|chronic urticaria with macroglobulinemia ICD9:708.8|UMLS:C0524988|EFO:1001165|DOID:4371|GARD:0012390|MedDRA:10062908|Orphanet:37748|SCTID:402415001|ICD10:L50.8|MESH:D019873 https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome owl:Class UBERON:0010564 biolink:NamedThing manual digit 1 mesenchyme Mesenchyme that is part of a developing manual digit 1. tmpak2llvmy_mondo_relaxed.owl fore limb digit 1 mesenchyme|hand digit 1 mesenchyme|manual digit I mesenchyme owl:Class MONDO:0003951 biolink:NamedThing scrotal hemangioma A hemangioma arising from the skin of the scrotum. tmpak2llvmy_mondo_relaxed.owl hemangioma of the scrotum|scrotal angioma|angioma of the scrotum|hemangioma of scrotum|scrotum hemangioma|angioma of scrotum|scrotal hemangioma UMLS:C1335936|DOID:663|NCIT:C6387 owl:Class HGNC:12309 biolink:NamedThing ZNHIT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044783 biolink:NamedThing solid papillary breast carcinoma A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. tmpak2llvmy_mondo_relaxed.owl solid Papillary carcinoma of the breast|solid Papillary breast carcinoma ONCOTREE:SPC|NCIT:C6870 owl:Class CHEBI:33356 biolink:NamedThing iron group element atom tmpak2llvmy_mondo_relaxed.owl iron group element|iron group elements|group 8 elements owl:Class HGNC:12399 biolink:NamedThing MYOT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001668 biolink:NamedThing internal pathological resorption of tooth tmpak2llvmy_mondo_relaxed.owl internal pathologic resorption|pink spot lesion of tooth|internal granuloma of pulp|pink tooth of mummery|internal pathological resorption|pathological tooth resorption - internal|internal resorption of crown of tooth|internal resorption of tooth ICD9:521.41|SCTID:52994003|DOID:13239 owl:Class MONDO:0032747 biolink:NamedThing hydatidiform mole, recurrent, 4 tmpak2llvmy_mondo_relaxed.owl HYDM4|HYDATIDIFORM MOLE, RECURRENT, 4 OMIM:618432 owl:Class NCBITaxon:291484 biolink:NamedThing Hepeviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012770 biolink:NamedThing prostate cancer, hereditary, 15 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, 15|HPC15 OMIM:611959|UMLS:C2677771|MESH:C567447 owl:Class MONDO:0006132 biolink:NamedThing cervical adenoid basal carcinoma A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations. tmpak2llvmy_mondo_relaxed.owl cervical adenoid basal cancer EFO:1000160|UMLS:C1516403|DOID:6428|NCIT:C40213|ONCOTREE:CABC owl:Class MONDO:0030048 biolink:NamedThing harderoporphyria tmpak2llvmy_mondo_relaxed.owl HARPO|harderoporphyria|HARDEROPORPHYRIA OMIM:618892 owl:Class MONDO:0014006 biolink:NamedThing Schuurs-Hoeijmakers syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant 17|mental retardation, autosomal dominant type 17|autosomal dominant intellectual disability-17|PACS1-related syndrome|SHMS|MRD17|Schuurs-Hoeijmakers syndrome|intellectual disability, autosomal dominant type 17|autosomal dominant mental retardation 17|autosomal dominant intellectual disability 17|mental retardation, autosomal dominant 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Orphanet:329224|GARD:0013043|DOID:0070047|UMLS:C3554343|NCIT:C150555|OMIM:615009 owl:Class MONDO:0007335 biolink:NamedThing orofacial cleft 1 Cleft lip with or without cleft palate mapped to chromosome 6p24. tmpak2llvmy_mondo_relaxed.owl orofacial cleft, nonsyndromic|cleft Lip/palate, nonsyndromic|OFC1|cleft lip with or without cleft palate, nonsyndromic, 1|orofacial cleft 1 MESH:C566121|UMLS:C1861537|DOID:0080395|NCIT:C124838|OMIM:119530 owl:Class GO:2000350 biolink:NamedThing positive regulation of CD40 signaling pathway Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpak2llvmy_mondo_relaxed.owl positive regulation of CD40 signalling pathway owl:Class MONDO:0021169 biolink:NamedThing epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells. tmpak2llvmy_mondo_relaxed.owl epithelioid haemangioma|epithelioid hemangioma|histiocytoid hemangioma UMLS:C0205788|ICDO:9125/0|DOID:474|NCIT:C4298 owl:Class HGNC:21350 biolink:NamedThing PDHX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010268 biolink:NamedThing X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. tmpak2llvmy_mondo_relaxed.owl lissencephaly, X-linked, type 2|Xlisg|X-linked lissencephaly with abnormal genitalia|X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|hydranencephaly with abnormal genitalia|LISX2|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|lissencephaly, X-linked, with ambiguous genitalia|XLAG syndrome|lissencephaly, X-linked, 2|hydranencephaly and abnormal genitalia|lissencephaly, X-linked 2 OMIM:300215|Orphanet:452|SCTID:717632002|ICD10:Q04.3|GARD:0012491|MESH:C564563 https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia owl:Class MONDO:0019790 biolink:NamedThing neuroleptic malignant syndrome Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. tmpak2llvmy_mondo_relaxed.owl NMS MedDRA:10029282|MESH:D009459|UMLS:C0027849|NCIT:C94829|ICD10:G21.0|GARD:0007195|ICD9:333.92|EFO:1001379|Orphanet:94093|DOID:14464|SCTID:15244003 https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome owl:Class GO:0016444 biolink:NamedThing somatic cell DNA recombination Recombination occurring within or between DNA molecules in somatic cells. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26257 biolink:NamedThing PDZD7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019895 biolink:NamedThing distal monosomy 4q tmpak2llvmy_mondo_relaxed.owl telomeric deletion 4q|distal monosomy type 4q|distal deletion 4q|monosomy 4qter ICD10:Q93.5|Orphanet:96145 owl:Class FOODON:00002373 biolink:NamedThing food product by meal type A meal type is the name of an eating occasion that may have location, food type, or other customary contextual features. (Damion's 1st draft definition) tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class GO:0006855 biolink:NamedThing drug transmembrane transport The process in which a drug is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl drug membrane transport|multidrug transport owl:Class HGNC:23801 biolink:NamedThing SIPA1L3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019916 biolink:NamedThing maternal uniparental disomy of chromosome 16 tmpak2llvmy_mondo_relaxed.owl maternal uniparental disomy of chromosome type 16|UPD(16)mat ICD10:Q99.8|Orphanet:96185 owl:Class MONDO:0035124 biolink:NamedThing linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies tmpak2llvmy_mondo_relaxed.owl Orphanet:589608 owl:Class MONDO:0033651 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 16 tmpak2llvmy_mondo_relaxed.owl MC4DN16 OMIM:619060 owl:Class MONDO:0002812 biolink:NamedThing infectious otitis interna Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. tmpak2llvmy_mondo_relaxed.owl internal Ear infection|infectious otitis interna|inner ear infection|infectious labyrinthitis|inner Ear infection NCIT:C27339|UMLS:C1168225 owl:Class GO:0007620 biolink:NamedThing copulation The act of sexual union between male and female, involving the transfer of sperm. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054615 biolink:NamedThing spermatogenic failure 18 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 18|SPGF18 OMIM:617576|DOID:0070165 owl:Class HGNC:17084 biolink:NamedThing SYNE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019440 biolink:NamedThing wild type ABeta2M amyloidosis tmpak2llvmy_mondo_relaxed.owl dialysis-related arthropathy|amyloidosis dialysis-related|amyloidosis beta2m|Beta-2-microglobulin amyloidosis|wild type ABeta2-microglobulinic amyloidosis|ABeta2Mwt amyloidosis|dialysis-related amyloidosis|DRA UMLS:CN206197|ICD10:E85.3|Orphanet:85446|GARD:0010563|SCTID:32599008 https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m owl:Class MONDO:0018590 biolink:NamedThing ABeta2M amyloidosis tmpak2llvmy_mondo_relaxed.owl Beta2-microglobulinic amyloidosis Orphanet:439246 owl:Class PATO:0002287 biolink:NamedThing increased elasticity An elasticity which is relatively high. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1952 biolink:NamedThing CHRM3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:33259 biolink:NamedThing Toxocaridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004630 biolink:NamedThing substance-induced psychosis tmpak2llvmy_mondo_relaxed.owl ICD9:293.89|DOID:8646 owl:Class MONDO:0009897 biolink:NamedThing adult polyglucosan body disease Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. tmpak2llvmy_mondo_relaxed.owl polyglucosan body disease, adult|APBD|APBN|polyglucosan body disease, adult form|polyglucosan body neuropathy, adult form Orphanet:206583|MESH:C564878|OMIM:263570|ICD10:E74.0|GARD:0000108|SCTID:721099001 https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult owl:Class MONDO:0019102 biolink:NamedThing dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205609|SCTID:721089006|Orphanet:71267 owl:Class MONDO:0015094 biolink:NamedThing subependymal nodular heterotopia tmpak2llvmy_mondo_relaxed.owl UMLS:C3160906|Orphanet:101030|GARD:0005050|MedDRA:10071150|ICD10:Q04.8|ICD9:742.4|SCTID:699812002 https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia owl:Class HGNC:3381 biolink:NamedThing EPB42 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011730 biolink:NamedThing fumaric aciduria Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. tmpak2llvmy_mondo_relaxed.owl fumaric aciduria|fumarase deficiency|fumarate hydratase deficiency|FMRD DOID:0111261|MESH:C538191|GARD:0006476|Orphanet:24|UMLS:C2936826|OMIM:606812|ICD10:E88.8|ICD9:282.3|SCTID:237983002 owl:Class HGNC:5318 biolink:NamedThing TNC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009311 biolink:NamedThing grouped pigmentation of the retina tmpak2llvmy_mondo_relaxed.owl grouped pigmentation of the macula|grouped pigmentation of the retina|grouped pigmentation of retinal pigment epithelium OMIM:233800|MESH:C565530|UMLS:C1856244 owl:Class MONDO:0016236 biolink:NamedThing kaposiform hemangioendothelioma Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. tmpak2llvmy_mondo_relaxed.owl KHE|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangio-endothelioma|KH|Kaposiform hemangioendothelioma ICD10:D18.0|GARD:0003077|NCIT:C27510|UMLS:C1367420|SCTID:403983000|MESH:C537007|Orphanet:2122 https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma owl:Class MONDO:0020398 biolink:NamedThing congenital mitral stenosis Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. tmpak2llvmy_mondo_relaxed.owl hereditary mitral valve stenosis|congenital mitral stenosis|congenital mitral stenosis (disease)|congenital mitral valve stenosis congenital mitral stenosis (disease) Orphanet:99057|GARD:0001496|ICD9:746.5|HP:0011570|ICD10:Q23.2|SCTID:82458004 owl:Class MONDO:0016594 biolink:NamedThing superficial siderosis Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. tmpak2llvmy_mondo_relaxed.owl superficial hemosiderosis of the central nervous system|superficial siderosis of the CNS|superficial siderosis of the central nervous system|hemosiderosis of the central nervous system|superficial hemosiderosis of the CNS ICD10:I69.0|GARD:0009484|Orphanet:247245 owl:Class MONDO:0013057 biolink:NamedThing psoriasis 12, susceptibility to tmpak2llvmy_mondo_relaxed.owl PSORS12|psoriasis 12, susceptibility to OMIM:612950|DOID:0111291 owl:Class HGNC:7707 biolink:NamedThing NDUFS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045921 biolink:NamedThing positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis. tmpak2llvmy_mondo_relaxed.owl upregulation of exocytosis|up regulation of exocytosis|activation of exocytosis|up-regulation of exocytosis|stimulation of exocytosis owl:Class MONDO:0017448 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb tmpak2llvmy_mondo_relaxed.owl digits 2-5 oligodactyly|digits 2-5 hypodactyly ICD10:Q71.3|Orphanet:294990 owl:Class MONDO:0017422 biolink:NamedThing adactyly of hand tmpak2llvmy_mondo_relaxed.owl fingers absent Orphanet:294931|ICD10:Q71.3 owl:Class MONDO:0009756 biolink:NamedThing Niemann-Pick disease type A Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. tmpak2llvmy_mondo_relaxed.owl Niemann-PICK disease, type A|sphingomyelinase deficiency|sphingomyelin lipidosis|Niemann-Pick disease, Intermediate, protracted neurovisceral MESH:D052536|Orphanet:77292|SCTID:52165006|GARD:0007206|ICD10:E75.2|OMIM:257200|NCIT:C126561|UMLS:C0268242|DOID:0070111 owl:Class NCBITaxon:6029 biolink:NamedThing Microsporidia tmpak2llvmy_mondo_relaxed.owl Microsporea|microsporidians|Microsporida|Microspora PMID:10563021|GC_ID:1|PMID:12684019|PMID:17051209|PMID:28808018|PMID:12142484|PMID:9892676 NCBITaxon:6031|NCBITaxon:6030 ncbi_taxonomy owl:Class MONDO:0033668 biolink:NamedThing deafness, autosomal dominant 79 tmpak2llvmy_mondo_relaxed.owl DFNA79 OMIM:619086 owl:Class MONDO:0021339 biolink:NamedThing carcinoma of hard palate A carcinoma that involves the hard palate. tmpak2llvmy_mondo_relaxed.owl carcinoma of hard palate|carcinoma of the hard palate|hard palate carcinoma NCIT:C8394|SCTID:254434008|UMLS:C0345550 owl:Class CL:2000042 biolink:NamedThing embryonic fibroblast Any fibroblast that is part of a embryo. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:12:00Z cell owl:Class MONDO:0015813 biolink:NamedThing primary cutaneous marginal zone B-cell lymphoma Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder. tmpak2llvmy_mondo_relaxed.owl skin-associated lymphoid tissue lymphoma|PCMZL|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|salt lymphoma|cutaneous Immunocytoma|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of the skin|C-MALT|marginal zone B cell lymphoma of skin SCTID:404140004|UMLS:C1275321|Orphanet:178536|ICD10:C83.0|NCIT:C7230 owl:Class UBERON:0007197 biolink:NamedThing hermaphroditic organism multicellular organism that can produce both male and female gametes. tmpak2llvmy_mondo_relaxed.owl hermaphrodite|dioecious organism owl:Class MONDO:0003158 biolink:NamedThing malignant myoepithelioma An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpak2llvmy_mondo_relaxed.owl myoepithelioma, malignant|myoepithelioma carcinoma|soft tissue myoepithelial carcinoma|malignant myoepithelioma|myoepithelial carcinoma NCIT:C7596|ICDO:8982/3|DOID:4838|ONCOTREE:STMYEC|GARD:0010558|UMLS:C0334699 https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma owl:Class MONDO:0001922 biolink:NamedThing pyoureter An abscess that is located in the ureter. tmpak2llvmy_mondo_relaxed.owl ureter abscess NCIT:C35666|DOID:1425|ICD9:593.89|SCTID:85884009|UMLS:C0034223 owl:Class HP:0040006 biolink:NamedThing Mortality/Aging tmpak2llvmy_mondo_relaxed.owl UMLS:C4022499 HPO:skoehler human_phenotype owl:Class MONDO:0042600 biolink:NamedThing Sammartino-Decreccio syndrome tmpak2llvmy_mondo_relaxed.owl Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality GARD:0000150 owl:Class MONDO:0022849 biolink:NamedThing congenital stenosis of cervical medullary canal tmpak2llvmy_mondo_relaxed.owl GARD:0001504 https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal owl:Class MONDO:0000525 biolink:NamedThing cecum villous adenoma A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpak2llvmy_mondo_relaxed.owl caecum adenoma|cecum villous adenoma|cecum adenoma|caecum villous adenoma|cecal villous adenoma|villous adenoma of cecum|villous adenoma of the cecum DOID:0050910|UMLS:C1332869|EFO:1000155|NCIT:C5520 owl:Class UBERON:0010675 biolink:NamedThing manual digit 1 phalanx cartilage element A cartilage element that is part of a manual digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl fore limb digit 1 phalanx cartilage condensation|hand digit 1 phalanx cartilage element|manual digit I phalanx cartilage element owl:Class MONDO:0006832 biolink:NamedThing limited scleroderma The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. tmpak2llvmy_mondo_relaxed.owl systemic sclerosis, limited MESH:D045745|EFO:1001017|UMLS:C0748540|SCTID:299276009|DOID:1577 owl:Class MONDO:0022694 biolink:NamedThing cerebral calcifications opalescent teeth phosphaturia tmpak2llvmy_mondo_relaxed.owl GARD:0001202 https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia owl:Class NCBITaxon:5758 biolink:NamedThing Entamoeba tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33084 biolink:NamedThing Entamoebidae tmpak2llvmy_mondo_relaxed.owl Entamoebida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016551 biolink:NamedThing congenital primary megaureter, refluxing form tmpak2llvmy_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238650 owl:Class MONDO:0005143 biolink:NamedThing Pseudomonas aeruginosa PA14 infection A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. tmpak2llvmy_mondo_relaxed.owl EFO:0001078 owl:Class SO:0001267 biolink:NamedThing snoRNA_gene A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs. tmpak2llvmy_mondo_relaxed.owl snoRNA gene owl:Class HGNC:3383 biolink:NamedThing STOM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008373 biolink:NamedThing retinal arterial tortuosity tmpak2llvmy_mondo_relaxed.owl RATOR|retinal arteries, tortuosity OF|retinal arterial tortuosity (disease)|retinal arteriolar tortuosity|retinal hemorrhage with vascular tortuosity|retinal arterial tortuosity|tortuosity of retinal arteries retinal arterial tortuosity (disease) Orphanet:75326|HP:0001136|DOID:0111547|OMIM:180000|ICD10:Q14.1 owl:Class MONDO:0017088 biolink:NamedThing isolated amyelia tmpak2llvmy_mondo_relaxed.owl ICD10:Q06.0|Orphanet:268868 owl:Class MONDO:0023134 biolink:NamedThing febrile ulceronecrotic mucha-habermann disease Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death. tmpak2llvmy_mondo_relaxed.owl ulceronecrotic Mucha-Habermann disease|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)|FUMHD|variant of Mucha-Habermann disease|febrile ulceronecrotic pityriasis lichenoides acuta|febrile ulceronecrotic mucha-habermann disease MESH:C537077|SCTID:402860008|UMLS:C1274297|GARD:0009516 https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease owl:Class MONDO:0024250 biolink:NamedThing acute lichenoid pityriasis tmpak2llvmy_mondo_relaxed.owl Habermanns disease|mucha-habermann disease|Mucha-Habermann disease|parapsoriasis varioliformis acuta|mucha habermann disease|disease, Habermann's|mucha-habermann syndrome|Habermann's disease|disease, Habermann|PLEVA|Habermann disease|parapsoriasis lichenoides et varioliformis acuta|disease, Mucha-Habermann|Mucha Habermann disease ICD9:696.5|SCTID:86487001 owl:Class MONDO:0008028 biolink:NamedThing muscular dystrophy, Barnes type tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, Barnes type UMLS:C1834688|OMIM:158800|MESH:C563558 owl:Class MONDO:0004546 biolink:NamedThing lumbar plexus neoplasm A neoplasm (disease) that involves the lumbar nerve plexus. tmpak2llvmy_mondo_relaxed.owl lumbar nerve plexus neoplasm (disease)|neoplasm of lumbar plexus|lumbar plexus neoplasms|lumbar nerve plexus tumor|neoplasm of the lumbar plexus|lumbar nerve plexus neoplasm|tumor of lumbar plexus|lumbar plexus tumor|tumor of the lumbar plexus|tumor of lumbar nerve plexus|neoplasm of lumbar nerve plexus NCIT:C5824|DOID:8389|UMLS:C1334437 owl:Class MONDO:0001758 biolink:NamedThing paranasal sinus sarcoma A malignant soft tissue neoplasm that arises from the paranasal sinus. tmpak2llvmy_mondo_relaxed.owl accessory sinus sarcoma|sarcoma of accessory sinus|sarcoma of the accessory sinus|sarcoma of the paranasal sinus|sarcoma of paranasal sinus|paranasal sinus sarcoma UMLS:C1335342|DOID:1362|NCIT:C6849 owl:Class MONDO:0017247 biolink:NamedThing communicating congenital bronchopulmonary-foregut malformation tmpak2llvmy_mondo_relaxed.owl ICD10:Q33.2|Orphanet:280821 owl:Class MONDO:0012548 biolink:NamedThing Kostmann syndrome Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. tmpak2llvmy_mondo_relaxed.owl severe congenital neutropenia type 3|agranulocytosis, infantile|neutropenia, severe congenital, 3, autosomal recessive|severe congenital neutropenia autosomal recessive 3|agranulocytosis infantile|SCN3|Kostmann disease|infantile agranulocytosis OMIM:610738|ICD10:D70|GARD:0000302|UMLS:CN032247|Orphanet:99749 owl:Class ENVO:01000452 biolink:NamedThing environmental disposition A disposition which is realised by an environmental system or system parts thereof. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1339 biolink:NamedThing C6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006482 biolink:NamedThing ureter small cell carcinoma A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl ureter small cell carcinoma|small cell carcinoma of ureter|small cell carcinoma of the ureter|ureteral small cell carcinoma DOID:6886|UMLS:C1336878|NCIT:C6176|EFO:1000610 owl:Class MONDO:0020339 biolink:NamedThing X-linked complex spastic paraplegia tmpak2llvmy_mondo_relaxed.owl complicated X-linked HSP|complicated X-linked SPG|X-linked complicated spastic paraplegia|Complex X-linked SPG|Complex X-linked HSP Orphanet:98888|ICD10:G11.4 owl:Class HP:0000458 biolink:NamedThing Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. tmpak2llvmy_mondo_relaxed.owl Loss of smell|Lost smell UMLS:C0003126|MSH:D000857|SNOMEDCT_US:44169009 human_phenotype owl:Class HP:0004408 biolink:NamedThing Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). tmpak2llvmy_mondo_relaxed.owl Abnormality of the sense of smell|Abnormal sense of smell|Smell defect|Abnormality of olfaction UMLS:C4021655 peter 2008-03-18T09:21:00Z HP:0004410 human_phenotype owl:Class MONDO:0100340 biolink:NamedThing Friedreich ataxia 1 Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene. tmpak2llvmy_mondo_relaxed.owl Friedreich ataxia type 1|Friedreich ataxia 1|FRDA1 MESH:C565561|UMLS:C1856689|OMIM:229300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013155 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy, congenital, POMGNT1-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|congenital muscular dystrophy-POMGNT1 related|MDDGB3 UMLS:C3150412|OMIM:613151 owl:Class MONDO:0032823 biolink:NamedThing intellectual developmental disorder 60 with seizures tmpak2llvmy_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 60, With Seizures|INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES|MRD60 OMIM:618587 owl:Class MONDO:0008481 biolink:NamedThing spondylosis, cervical tmpak2llvmy_mondo_relaxed.owl spondylosis, cervical UMLS:C1384641|SCTID:387800004|OMIM:184300 owl:Class MONDO:0012605 biolink:NamedThing isolated microphthalmia 5 Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene. tmpak2llvmy_mondo_relaxed.owl posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|MCOP5|microphthalmia, isolated type 5|isolated microphthalmia type 5|MFRP isolated microphthalmia|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia caused by mutation in MFRP|isolated microphthalmia 5|microphthalmia, isolated 5 UMLS:C1970236|MESH:C567024|Orphanet:251279|ICD10:Q15.8|DOID:0060837|OMIM:611040 owl:Class GO:0001578 biolink:NamedThing microtubule bundle formation A process that results in a parallel arrangement of microtubules. tmpak2llvmy_mondo_relaxed.owl microtubule bundling owl:Class MONDO:0032883 biolink:NamedThing intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures tmpak2llvmy_mondo_relaxed.owl IDDBCS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES OMIM:618725 owl:Class MONDO:0018759 biolink:NamedThing childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN776870|Orphanet:466921 owl:Class NCBITaxon:2682482 biolink:NamedThing Mastigamoebida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:9603 biolink:NamedThing PTGIS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003505 biolink:NamedThing femoral cancer A cancer involving a femur. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of femur|cancer of femur|neoplasm of femur|femoral neoplasm|femur cancer|malignant femur neoplasm EFO:0007270|MESH:D005266|DOID:5546 owl:Class MONDO:0021579 biolink:NamedThing neoplasm of femur A neoplasm (disease) that involves the femur. tmpak2llvmy_mondo_relaxed.owl tumor of femur|femur neoplasm|neoplasm of femur|femur tumor|femur neoplasm (disease) ICD9:239.2|SCTID:126583006 owl:Class MONDO:0012340 biolink:NamedThing celiac disease, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2|CELIAC2 OMIM:609754 owl:Class MONDO:0020459 biolink:NamedThing unstable hemoglobin disease tmpak2llvmy_mondo_relaxed.owl SCTID:18273004|Orphanet:99139|ICD9:282.7|UMLS:C0272006 owl:Class MONDO:0003773 biolink:NamedThing intracerebral cystic meningioma A cystic meningioma that grows within the cerebral hemispheres. tmpak2llvmy_mondo_relaxed.owl DOID:6113|UMLS:C1334236|NCIT:C5269 owl:Class MONDO:0006782 biolink:NamedThing hemometra Blood-filled uterus. tmpak2llvmy_mondo_relaxed.owl hematometra SCTID:38280009|DOID:9958|ICD10:N85.7|MESH:D006409|ICD9:621.4|EFO:1000962 owl:Class UBERON:0001119 biolink:NamedThing right lobe of thyroid gland A lobe of thyroid gland that is in the right side of a thyroid gland. tmpak2llvmy_mondo_relaxed.owl right thyroid lobe|thyroid gland right lobe|lobus dexter (glandula thyroidea) owl:Class NCBITaxon:5152 biolink:NamedThing Ophiostomataceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:117573 ncbi_taxonomy owl:Class MONDO:0021041 biolink:NamedThing pleural solitary fibrous tumor A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. tmpak2llvmy_mondo_relaxed.owl pleural cavity solitary fibrous tumor|fibroma of pleura|pleural Submesothelial fibroma|localized fibrous mesothelioma of pleura|localized fibrous mesothelioma of the pleura|fibroma of the pleura|pleural fibroma|pleural solitary fibrous tumor|pleura solitary fibrous tumor|solitary fibrous tumor of pleura|solitary fibrous tumor of the pleura SCTID:254646001|EFO:1000835|NCIT:C4457 owl:Class HGNC:30539 biolink:NamedThing DNAAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002534 biolink:NamedThing fallopian tube papilloma A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells. tmpak2llvmy_mondo_relaxed.owl fallopian tube papilloma|fallopian tube serous papilloma DOID:3173|UMLS:C1517123|NCIT:C40112 owl:Class MONDO:0022888 biolink:NamedThing craniostenosis cataract tmpak2llvmy_mondo_relaxed.owl GARD:0001584 https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract owl:Class MONDO:0006665 biolink:NamedThing chronic atrophic gastritis Atrophic gastritis that is persistent and long-standing. tmpak2llvmy_mondo_relaxed.owl gastric atrophy|atrophic Gastritides|atrophic gastritis|Gastritides, atrophic DOID:8929|ICD9:535.11|ICD9:535.1|MedDRA:10003685|ICD10:K29.4|EFO:1000826|ICD9:535.10|MESH:D005757|NCIT:C7405|SCTID:84568007 owl:Class MONDO:0012124 biolink:NamedThing sudden infant death-dysgenesis of the testes syndrome Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. tmpak2llvmy_mondo_relaxed.owl sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome|SIDDT ICD10:G90.8|OMIM:608800|Orphanet:168593|UMLS:C1837371|MESH:C563856|GARD:0012382 owl:Class MONDO:0033662 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and brain atrophy tmpak2llvmy_mondo_relaxed.owl NEDMISB OMIM:619076 owl:Class MONDO:0033967 biolink:NamedThing immune dysregulation with inflammatory bowel disease tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:529974 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO_0015823 owl:Class HGNC:14082 biolink:NamedThing ANLN tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:513040 biolink:NamedThing Dioctophymatidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009642 biolink:NamedThing orofaciodigital syndrome type II Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. tmpak2llvmy_mondo_relaxed.owl oral facial digital syndrome type 2|MOHR syndrome|oral-Facial-digital syndrome, type 2|oral-facial-digital syndrome type 2|OFD syndrome 2|orofaciodigital syndrome 2|orofaciodigital syndrome II|OFD2|Mohr syndrome|orofaciodigital syndrome type 2|oral facial digital syndrome 2|Ofds 2 ICD9:759.89|SCTID:1779005|Orphanet:2751|OMIM:252100|ICD10:Q87.0|GARD:0003701 owl:Class CL:0002352 biolink:NamedThing gestational hematopoietic stem cell A hematopoietic stem cell that exists during embryogenesis. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-09-22T09:05:13Z cell owl:Class MONDO:0010308 biolink:NamedThing thrombocytopenia, X-linked, with or without dyserythropoietic anemia An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia, X-linked, with or without dyserythropoietic anemia|X-linked thrombocytopenia, with or without dyserythropoietic Anemia|XLTDA OMIM:300367|NCIT:C136653|UMLS:C3550789 owl:Class GO:0060302 biolink:NamedThing negative regulation of cytokine activity Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009463 biolink:NamedThing internal carotid arteries, hypoplasia of tmpak2llvmy_mondo_relaxed.owl internal carotid arteries, hypoplasia of OMIM:243100 owl:Class MONDO:0022755 biolink:NamedThing chromosome 18 mosaic monosomy tmpak2llvmy_mondo_relaxed.owl monosomy 18 mosaicism|Mosaic monosomy 18|Mosaic monosomy chromosome 18 UMLS:CN036727|GARD:0003726|MESH:C536581 owl:Class MONDO:0016570 biolink:NamedThing primary pulmonary lymphoma Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). tmpak2llvmy_mondo_relaxed.owl UMLS:C4273669|SCTID:718200007|Orphanet:2420|ICD10:C85.7|MedDRA:10037418|UMLS:C0519063 Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma owl:Class MONDO:0043468 biolink:NamedThing acne keloid A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent. tmpak2llvmy_mondo_relaxed.owl keloidal folliculitis|nuchal keloid acne|Keloidalis nuchae, lichen|acne keloids|acne keloid|keloid, acne|keloidal acne|dermatitis papillaris Capillitius|Keloidalis nuchae, folliculitis|Acnes, nuchal keloid|dermatitis papillaris Capillitii|acne, keloidal|keloidal Acnes|folliculitis Keloidalis|acne Keloidalis|nuchae, folliculitis Keloidalis|papillaris Capillitii, dermatitis|Capillitius, dermatitis papillaris|acne, nuchal keloid|Capillitii, dermatitis papillaris|nuchal keloid Acnes|folliculitis Keloidalis nuchae|nuchae, lichen Keloidalis|keloid acne, nuchal|keloids, acne|keloid Acnes, nuchal|lichen Keloidalis nuchae|papillaris Capillitius, dermatitis NCIT:C34346|SCTID:238746008|UMLS:C0001145|EFO:1001256|MESH:D000153 owl:Class MONDO:0009497 biolink:NamedThing Kifafa seizure disorder tmpak2llvmy_mondo_relaxed.owl Kifafa seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Vitsala MESH:C537708|UMLS:C0796010|OMIM:245180|GARD:0008420 https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder owl:Class MONDO:0031011 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and variable seizures tmpak2llvmy_mondo_relaxed.owl NEDDFAS OMIM:619264 owl:Class MONDO:0044874 biolink:NamedThing refractory cytopenia of childhood The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl RCC|refractory cytopenia of childhood NCIT:C82596|ONCOTREE:RCYC owl:Class MONDO:0044873 biolink:NamedThing childhood myelodysplastic syndrome An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. tmpak2llvmy_mondo_relaxed.owl myelodysplastic syndrome|childhood MDS|childhood myelodysplastic syndrome NCIT:C68744 owl:Class NCBITaxon:689832 biolink:NamedThing Sedoreovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008683 biolink:NamedThing Wilms tumor 3 tmpak2llvmy_mondo_relaxed.owl WT3|Wilms tumor 3 MESH:C565991|UMLS:C1860265|OMIM:194090 owl:Class MONDO:0043343 biolink:NamedThing Chilaiditi syndrome Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. tmpak2llvmy_mondo_relaxed.owl anomaly, Chilaiditi|hepatodiaphragmatic colonic interposition|syndrome, Chilaiditi|Chilaiditi anomaly|Chilaiditi's syndrome|syndrome, Chilaiditi's|anomaly, Chilaiditi's|chilaiditi's syndrome|Chilaiditis syndrome|Chilaiditi's anomaly|Chilaiditis anomaly|subphrenic interposition syndrome GARD:0010685|SCTID:14911005|MESH:D059269 owl:Class HP:0003367 biolink:NamedThing Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpak2llvmy_mondo_relaxed.owl Abnormality of the femoral neck|Abnormal neck of thigh bone UMLS:C4025621 human_phenotype owl:Class MONDO:0011508 biolink:NamedThing lymphoma, non-Hodgkin, familial tmpak2llvmy_mondo_relaxed.owl lymphoma, non-Hodgkin, familial|non-Hodgkin lymphoma ICD9:202.80|SCTID:118601006|OMIM:605027 owl:Class GO:0015291 biolink:NamedThing secondary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. tmpak2llvmy_mondo_relaxed.owl heavy metal ion porter activity|porter activity|ion-gradient-driven energizer activity|multidrug endosomal transmembrane transporter activity|galactose/glucose (methylgalactoside) porter activity|porters|electrochemical potential-driven transporter activity|secondary carrier-type facilitators|coupled carrier|energizer of outer membrane receptor-mediated transport activity|nitrite/nitrate porter activity|active transporter owl:Class CHEBI:33362 biolink:NamedThing nickel group element atom tmpak2llvmy_mondo_relaxed.owl group 10 elements|nickel group element|nickel group elements owl:Class MONDO:0002729 biolink:NamedThing rhabdoid tumor of the kidney A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl malignant rhabdoid tumor of the kidney|rhabdoid tumour of the kidney|kidney rhabdoid tumor|kidney rhabdoid cancer|rhabdoid tumour of kidney|MRTK|rhabdoid tumor of the kidney|rhabdoid neoplasm of the kidney|renal rhabdoid neoplasm|malignant rhabdoid tumor of kidney|renal rhabdoid tumor|rhabdoid neoplasm of kidney|rhabdoid tumor of the kidney (RTK) DOID:3674|UMLS:C0854917|EFO:1000512|NCIT:C8715 owl:Class MONDO:0016829 biolink:NamedThing familial visceral myopathy A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. tmpak2llvmy_mondo_relaxed.owl pseudoobstruction idiopathic intestinal|megaduodenum and/or megacystis|hereditary hollow visceral myopathy|familial hollow visceral myopathy|visceral myopathy familial UMLS:CN202146|GARD:0003443|ICD10:K56.0|UMLS:C0266833|UMLS:C1835084|ICD9:359.89|SCTID:63684002|Orphanet:2604 owl:Class MONDO:0020754 biolink:NamedThing visceral myopathy tmpak2llvmy_mondo_relaxed.owl visceral myopathy|megaduodenum and/or megacystis|infantile visceral myopathy|pseudoobstruction, idiopathic intestinal|VSCM OMIM:155310 owl:Class NCBITaxon:85552 biolink:NamedThing Scylla paramamosain tmpak2llvmy_mondo_relaxed.owl green mud crab GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016490 biolink:NamedThing hemoglobin C-beta-thalassemia syndrome Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl C-beta-thalassemia|HBC-beta-thalassemia syndrome UMLS:CN201488|ICD10:D58.2|Orphanet:231242 owl:Class MONDO:0022504 biolink:NamedThing arthrogryposis spinal muscular atrophy tmpak2llvmy_mondo_relaxed.owl GARD:0000795 https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy owl:Class MONDO:0024501 biolink:NamedThing appendix neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpak2llvmy_mondo_relaxed.owl neuroendocrine neoplasm of vermiform appendix|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix neuroendocrine tumor|vermiform appendix neuroendocrine neoplasm|appendix neuroendocrine neoplasm|vermiform appendix NET NCIT:C60709 owl:Class MONDO:0006746 biolink:NamedThing endomyocardial fibrosis A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. tmpak2llvmy_mondo_relaxed.owl endomyocardial sclerosis|African endomyocardial fibrosis|obscure African cardiomyopathy ICD9:425.0|MESH:D004719|NCIT:C34585|GARD:0006340|EFO:1000921|MedDRA:10014800|DOID:12932 https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis owl:Class MONDO:0015341 biolink:NamedThing congenital panfollicular nevus Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. tmpak2llvmy_mondo_relaxed.owl congenital panfollicular nevus|congenital panfollicular nevus (disease) congenital panfollicular nevus (disease) HP:0025471|Orphanet:139414 owl:Class HGNC:18683 biolink:NamedThing EIF4A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015374 biolink:NamedThing primary central nervous system vasculitis tmpak2llvmy_mondo_relaxed.owl primary angiitis of the central nervous system|primary CNS vasculitis|PACNS|primary central nervous system vasculitis|granulomatous angiitis of the central nervous system|primary vasculitis of the central nervous system|PCNSV|isolated angiitis of the central nervous system ICD10:I67.7|Orphanet:140989|GARD:0008703|MESH:C537295 https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system owl:Class MONDO:0003705 biolink:NamedThing adult brainstem mixed glioma tmpak2llvmy_mondo_relaxed.owl adult brain stem mixed glioma|adult brainstem mixed glioma DOID:5921|NCIT:C9371|UMLS:C1377915 owl:Class MONDO:0021559 biolink:NamedThing non-autoimmune hemolytic anemia Hemolytic anemia that is not mediated by immune mechanisms. tmpak2llvmy_mondo_relaxed.owl non-autoimmune hemolytic anemia|Non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia ICD9:283.19|UMLS:C0028283|SCTID:191216004|NCIT:C34853|ICD9:283.10 owl:Class GO:0015893 biolink:NamedThing drug transport The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015146 biolink:NamedThing manus hair A strand of hair that is part of a manus. tmpak2llvmy_mondo_relaxed.owl front paw hair|hair of hand|hand hair owl:Class MONDO:0001252 biolink:NamedThing Plummer disease Nodular enlargement of the thyroid gland associated with hyperthyroidism. tmpak2llvmy_mondo_relaxed.owl Toxic goiter|toxic nodular goiter|Plummer's disease|Plummer disease EFO:0009191|ICD9:242.30|DOID:11277|ICD9:242.3|ICD10:E05.2|SCTID:57777000|NCIT:C35171|UMLS:C0342127 owl:Class MONDO:0014546 biolink:NamedThing myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. tmpak2llvmy_mondo_relaxed.owl VMCQA|myopathy, vacuolar, with CASQ1 aggregates SCTID:724095006|Orphanet:88635|UMLS:C4510368|OMIM:616231|UMLS:C4015624|ICD10:G71.8 owl:Class MONDO:0014433 biolink:NamedThing Bardet-Biedl syndrome 4 tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 4|BBS4|Bardet-Biedl syndrome type 4 EFO:0009024|GARD:0000823|UMLS:C2936864|DOID:0110126|MESH:C537912|ICD10:Q87.89|OMIM:615982 https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 owl:Class MONDO:0004310 biolink:NamedThing adult embryonal tumor with multilayered rosettes, c19mc-altered An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. tmpak2llvmy_mondo_relaxed.owl ependymoblastoma of adults|adult embryonal tumor with multilayered rosettes, C19MC-altered|embryonal tumor with multilayered rosettes, C19MC-altered|adult ependymoblastoma UMLS:C0281330|DOID:7631|NCIT:C8290 owl:Class MONDO:0003785 biolink:NamedThing leukopenia A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. tmpak2llvmy_mondo_relaxed.owl leucopenia|leukocytopenia|White blood cell decreased MESH:D007970|SCTID:84828003|ICD10:D72.819|EFO:0004233|UMLS:C0023530|DOID:615|ICD9:288.50|NCIT:C26816 owl:Class MONDO:0011428 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. tmpak2llvmy_mondo_relaxed.owl EEC3|EEC syndrome caused by mutation in TP63|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|TP63 EEC syndrome|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|EEC syndrome 3 ICD10:Q82.4|DOID:0060783|OMIM:604292|MESH:C565799 owl:Class MONDO:0043275 biolink:NamedThing TORCH syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. tmpak2llvmy_mondo_relaxed.owl torch syndrome|TORCH infection|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|TORCH syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome SCTID:41679006|GARD:0007781|NCIT:C98609|UMLS:C0270173 owl:Class MONDO:0020704 biolink:NamedThing inherited rippling muscle disease Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. tmpak2llvmy_mondo_relaxed.owl rippling muscle disease|RMD ICD10:G71.8|GARD:0009164|Orphanet:97238|MedDRA:10069417 owl:Class MONDO:0013777 biolink:NamedThing pseudohypoaldosteronism type 2B Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. tmpak2llvmy_mondo_relaxed.owl pseudohypoaldosteronism type 2 caused by mutation in WNK4|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIB|PHA2B|pseudohypoaldosteronism, type 2B Orphanet:88939|OMIM:614491|MESH:C564161|ICD10:I15.1|UMLS:C1840390 owl:Class UBERON:0004270 biolink:NamedThing lower leg connective tissue A portion of connective tissue that is part of a lower leg [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009703 biolink:NamedThing myopathy with abnormal lipid metabolism tmpak2llvmy_mondo_relaxed.owl lipid storage myopathy|LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency|myopathy with abnormal lipid metabolism|LSMFLAD|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency OMIM:255100 owl:Class HP:0000479 biolink:NamedThing Abnormal retinal morphology A structural abnormality of the retina. tmpak2llvmy_mondo_relaxed.owl Retina issue|Anomaly of the retina|Abnormal retina|Retinal disease|Abnormality of the retina MSH:D012164|UMLS:C0035309|SNOMEDCT_US:29555009|UMLS:C0035300 HP:0007938 human_phenotype owl:Class MONDO:0010339 biolink:NamedThing X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). tmpak2llvmy_mondo_relaxed.owl X-linked epilepsy-learning disabilities-behavior disorders syndrome|epilepsy, X-linked, with variable learning disabilities and behavior disorders ICD10:Q87.8|UMLS:C1845343|MESH:C564505|OMIM:300491|Orphanet:85294 owl:Class MONDO:0002335 biolink:NamedThing chronic inflammatory demyelinating polyneuritis An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. tmpak2llvmy_mondo_relaxed.owl chronic inflammatory demyelinating polyneuropathy ICD9:357.81|DOID:2536|SCTID:444728005|ICD10:G61.81|NCIT:C84636 Editor note: todo add polyneuritis owl:Class MONDO:0003335 biolink:NamedThing chronic polyneuropathy Polyneuropathy that is persistent or long-standing in nature. tmpak2llvmy_mondo_relaxed.owl polyneuropathy, chronic DOID:5221|UMLS:C1167650|NCIT:C36071 owl:Class UBERON:0002514 biolink:NamedThing intramembranous bone Bone tissue forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP]. tmpak2llvmy_mondo_relaxed.owl intramembranous bones|membrane bone owl:Class UBERON:0005058 biolink:NamedThing hemolymphoid system gland A gland that is part of a hemolymphoid system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hemopoietic or lymphoid organ|hemopoietic or lymphoid gland|haemolymphoid system gland owl:Class MONDO:0000514 biolink:NamedThing bone squamous cell carcinoma A squamous cell carcinoma that involves the bone tissue. tmpak2llvmy_mondo_relaxed.owl bone tissue squamous cell carcinoma DOID:0050896 owl:Class HGNC:3951 biolink:NamedThing FXN tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000970 biolink:NamedThing permeability A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0044062 biolink:NamedThing regulation of excretion Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009956 biolink:NamedThing red skin pigment anomaly of new guinea tmpak2llvmy_mondo_relaxed.owl red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type OMIM:266350|UMLS:C1849451|GARD:0009757|MESH:C535515 https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea owl:Class MONDO:0043112 biolink:NamedThing lachiewicz sibley syndrome tmpak2llvmy_mondo_relaxed.owl hereditary renal disease and preauricular pits UMLS:C2931742|MESH:C538131|GARD:0003157 owl:Class MONDO:0010732 biolink:NamedThing spastic paraparesis-deafness syndrome Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. tmpak2llvmy_mondo_relaxed.owl familial spastic paraparesis and deafness|spastic paraparesis and deafness|spastic paraparesis - deafness|Wells-Jankovic syndrome OMIM:312910|ICD10:G11.4|GARD:0005555|SCTID:715504003|Orphanet:2815|MESH:C536692|UMLS:C2931291 owl:Class GO:0016670 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor owl:Class GO:0016667 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors|oxidoreductase activity, acting on sulfur group of donors, other acceptors owl:Class NCBITaxon:5807 biolink:NamedThing Cryptosporidium parvum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:2200823|NCBITaxon:2200825|NCBITaxon:2200819|NCBITaxon:2200822|NCBITaxon:2200820|NCBITaxon:2200824|NCBITaxon:2200821|NCBITaxon:2200817|NCBITaxon:2200826|NCBITaxon:2200816|NCBITaxon:2200815|NCBITaxon:2200818 ncbi_taxonomy owl:Class CL:0011111 biolink:NamedThing gonadotropin releasing neuron Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction. tmpak2llvmy_mondo_relaxed.owl GnRH-secreting neuron|GnRH neuron owl:Class MONDO:0012286 biolink:NamedThing myopathy, autophagic vacuolar, infantile-onset tmpak2llvmy_mondo_relaxed.owl myopathy, autophagic vacuolar, infantile-onset OMIM:609500 owl:Class MONDO:0002487 biolink:NamedThing breast granular cell tumor A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. tmpak2llvmy_mondo_relaxed.owl breast granular cell tumor|granular cell tumor of breast DOID:3011|UMLS:C1511312|NCIT:C40400 owl:Class MONDO:0013104 biolink:NamedThing basal cell carcinoma, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 4|BCC4 UMLS:C2751602|OMIM:613061 owl:Class CL:0002116 biolink:NamedThing B220-low CD38-positive unswitched memory B cell A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0002115 biolink:NamedThing B220-positive CD38-positive unswitched memory B cell A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0020455 biolink:NamedThing congenital partial agenesis of pericardium Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. tmpak2llvmy_mondo_relaxed.owl Orphanet:99130|ICD10:Q24.8 owl:Class MONDO:0016699 biolink:NamedThing myxopapillary ependymoma Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. tmpak2llvmy_mondo_relaxed.owl ependymoma, benign|myxopapillary ependymoma (morphologic abnormality)|myxopapillary ependymoma ICDO:9394/1|GARD:0010633|DOID:5075|Orphanet:251643|ONCOTREE:MPE|NCIT:C3697|ICD10:D43.2|UMLS:C0205769 https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma owl:Class MONDO:0006120 biolink:NamedThing C-cell hyperplasia Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). tmpak2llvmy_mondo_relaxed.owl C-cell hyperplasia UMLS:C0342190|NCIT:C46100|EFO:1000147 owl:Class MONDO:0018471 biolink:NamedThing generalized eruptive keratoacanthoma Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. tmpak2llvmy_mondo_relaxed.owl generalized eruptive keratoacanthomas of Grzybowski|Grzybowski syndrome|GEKA SCTID:254664008|ICD10:L85.8|UMLS:CN237455|UMLS:C0345985|Orphanet:411777 owl:Class GO:0019200 biolink:NamedThing carbohydrate kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051461 biolink:NamedThing positive regulation of corticotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell. tmpak2llvmy_mondo_relaxed.owl upregulation of adrenocorticotropin secretion|activation of adrenocorticotropin secretion|positive regulation of ACTH secretion|positive regulation of adrenotropic hormone secretion|up regulation of adrenocorticotropin secretion|positive regulation of adrenocorticotropin secretion|positive regulation of corticotropic hormone secretion|up-regulation of adrenocorticotropin secretion|stimulation of adrenocorticotropin secretion|positive regulation of adrenocorticotropic hormone secretion|positive regulation of adrenotropin secretion owl:Class MONDO:0010460 biolink:NamedThing syndromic X-linked intellectual disability 17 Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic 17|X-linked mental retardation with alacrima and achalasia|mental retardation, X-linked, with alacrima and achalasia|intellectual disability, X-linked, with alacrima and achalasia|MRXS17|syndromic X-linked intellectual disability type 17|intellectual disability, X-linked, syndromic 17|X-linked intellectual disability with alacrima and achalasia|intellectual disability-alacrima-achalasia syndrome OMIM:300858|Orphanet:289483|UMLS:C3275460|DOID:0060803 owl:Class MONDO:0013671 biolink:NamedThing hydatidiform mole, recurrent, 2 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. tmpak2llvmy_mondo_relaxed.owl KHDC3L complete hydatidiform mole|hydatidiform MOLE, recurrent, 2|HYDM2|complete hydatidiform mole caused by mutation in KHDC3L|hydatidiform mole, recurrent, 2|hydatidiform Mole, complete|hydatidiform Mole, recurrent, type 2 UMLS:C3280352|OMIM:614293 owl:Class MONDO:0030051 biolink:NamedThing intellectual developmental disorder with autistic features and language delay, with or without seizures tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES|IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures OMIM:618906 owl:Class MONDO:0012583 biolink:NamedThing tooth agenesis, selective, 5 tmpak2llvmy_mondo_relaxed.owl tooth agenesis, selective, 5|hypodontia/oligodontia 5|he-Zhao deficiency|STHAG5 UMLS:C1858210|MESH:C565757|OMIM:610926 owl:Class MONDO:0004732 biolink:NamedThing kidney carcinoma in situ A carcinoma in situ involving a kidney. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of kidney|kidney in situ carcinoma|stage 0 kidney carcinoma SCTID:92624000|ICD10:D09.1|DOID:9234|ICD9:233.9|UMLS:C0686172 owl:Class MONDO:0024492 biolink:NamedThing tumor grade 2, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. tmpak2llvmy_mondo_relaxed.owl moderately differentiated|grade 2|G2|intermediate grade|grade II EFO:0005746|NCIT:C28078 owl:Class MONDO:0024496 biolink:NamedThing tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. tmpak2llvmy_mondo_relaxed.owl grade 2/3 NCIT:C94678 owl:Class MONDO:0001601 biolink:NamedThing Plasmodium ovale malaria An malaria caused by infection with Plasmodium ovale. tmpak2llvmy_mondo_relaxed.owl ovale malaria|Malariaby Plasmodium ovale DOID:12919|ICD10:B53.0|UMLS:C0152072|SCTID:19341001|ICD9:084.3 owl:Class CHEBI:27314 biolink:NamedThing water-soluble vitamin tmpak2llvmy_mondo_relaxed.owl wasserloesliche Vitamine|water-soluble vitamins owl:Class MONDO:0017346 biolink:NamedThing Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. tmpak2llvmy_mondo_relaxed.owl EBV Positive diffuse large B-cell lymphoma of the elderly|EBV-positive DLBCL of the elderly|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder|EBV-Positive diffuse large B-cell lymphoma, NOS|age-related EBV Positive B-cell lymphoproliferative disorder SCTID:716788007|ICD10:C83.3|NCIT:C80281|ICDO:9680/3|Orphanet:289661|UMLS:C2700007 owl:Class MONDO:0008446 biolink:NamedThing sperm protamine P4 tmpak2llvmy_mondo_relaxed.owl sperm protamine P4|PRM4 OMIM:182882 owl:Class CHEBI:27081 biolink:NamedThing transition element atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. tmpak2llvmy_mondo_relaxed.owl transition elements|metales de transicion|Uebergangsmetalle|transition element|transition metals|metaux de transition|metal de transicion|metal de transition|Uebergangselement|transition metal owl:Class UBERON:0001592 biolink:NamedThing bronchial vein The bronchial veins are small vessels that return blood from the larger bronchi and structures at the roots of the lungs. The right side drains into the azygos vein, while the left side drains into the left superior intercostal vein or the accessory hemiazygos vein. The bronchial veins are counterparts to the bronchial arteries. The veins, however, do not return all of the blood supplied by the arteries; much of the blood that is carried in the bronchial arteries is returned to the heart via the pulmonary veins. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl bronchial venous tree owl:Class CL:0000906 biolink:NamedThing activated CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. tmpak2llvmy_mondo_relaxed.owl activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte|activated CD8-positive, alpha-beta T-cell cell owl:Class MONDO:0060489 biolink:NamedThing 46,XX sex reversal 4 tmpak2llvmy_mondo_relaxed.owl 46,XX SEX reversal 4|SRXX4|46,XX Sex reversal, Sry-Negative OMIM:617480|DOID:0111764 owl:Class MONDO:0016706 biolink:NamedThing chordoid glioma of the third ventricle A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. tmpak2llvmy_mondo_relaxed.owl chordoid glioma of the third ventricle|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of 3rd ventricle|chordoid glioma of the 3rd ventricle|chordoid glioma of third ventricle|chordoid glioma (morphologic abnormality)|third ventricle chordoid glioma|chordoid glioma NCIT:C5592|DOID:3773|SCTID:715900001|ONCOTREE:CHGL|DOID:3774|UMLS:C1322252|ICDO:9444/1|ICD10:C71.9|Orphanet:251674|GARD:0010636 MONDO:0002773 https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle owl:Class GO:0045984 biolink:NamedThing negative regulation of pyrimidine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpak2llvmy_mondo_relaxed.owl negative regulation of pyrimidine base metabolism|downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process|down-regulation of pyrimidine base metabolic process|inhibition of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process owl:Class MONDO:0001006 biolink:NamedThing glaucomatous atrophy of optic disc tmpak2llvmy_mondo_relaxed.owl glaucomatous atrophy [cupping] of optic disc SCTID:1207009|ICD9:377.14|DOID:10337|ICD10:H47.23|UMLS:C0271342 owl:Class HP:0000119 biolink:NamedThing Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. tmpak2llvmy_mondo_relaxed.owl Genitourinary tract anomalies|Genitourinary dysplasia|Genitourinary disease|Genitourinary tract malformation|Urogenital anomalies|Urogenital abnormalities|Genitourinary abnormality|Abnormality of the GU system UMLS:C0080276|UMLS:C4020895|UMLS:C0042063|MSH:D014564|SNOMEDCT_US:287085006|SNOMEDCT_US:42030000 HP:0008713|HP:0008704|HP:0008688|HP:0008658 human_phenotype owl:Class MONDO:0002808 biolink:NamedThing pancreatic serous cystadenoma A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. tmpak2llvmy_mondo_relaxed.owl pancreatic microcystic adenoma|PSC|serous cystadenoma of pancreas|pancreatic serous cystadenoma|serous cystadenoma of the pancreas|pancreas serous cystadenoma ONCOTREE:PSC|UMLS:C1335316|NCIT:C5712|DOID:3917 owl:Class MONDO:0005177 biolink:NamedThing serous cystadenoma A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion. tmpak2llvmy_mondo_relaxed.owl serous cystadenoma|serous cystoma EFO:0002504|ICDO:8441/0|NCIT:C3783 owl:Class HGNC:1494 biolink:NamedThing ALX1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2321 biolink:NamedThing CPOX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021804 biolink:NamedThing silicotuberculosis Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis. tmpak2llvmy_mondo_relaxed.owl Silicotuberculoses|silicotuberculosis|Silicotuberculosis MESH:D012830|UMLS:C0037118|SCTID:233763009|ICD9:502 owl:Class UBERON:0035118 biolink:NamedThing material entity in digestive tract Any material entity that is located in the digestive tract. This includes undigested food and liquid as well as unexcreted waste products. It also includes other entities such as ingested stones used to aid digestion. Any microbial cells or cell populations are also included. tmpak2llvmy_mondo_relaxed.owl ingested material entity|digestive tract contents owl:Class MONDO:0016441 biolink:NamedThing acquired pseudoxanthoma elasticum A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type. tmpak2llvmy_mondo_relaxed.owl acquired pseudoxanthoma elasticum|acquired PXE|localized acquired cutaneous pseudoxanthoma elasticum|acquired pseudoxanthoma elasticum (inherited or acquired)|acquired Gronblad-Strandberg-Touraine syndrome UMLS:C1274759|ICD9:757.39|SCTID:403401007|Orphanet:228247 owl:Class MONDO:0014036 biolink:NamedThing Alzheimer disease 17 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease 17, late onset|Alzheimer disease 17, late-onset|Alzheimer's disease type 17|Alzheimer disease 17|AD17|Alzheimer's disease 17 UMLS:C3554452|OMIM:615080|DOID:0110049 owl:Class MONDO:0000809 biolink:NamedThing purpura fulminans A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. tmpak2llvmy_mondo_relaxed.owl purpura gangrenosa|fibrinolytic purpura DOID:0060538|EFO:1001913|SCTID:13507004|ICD10:D65|MESH:D055665 owl:Class MONDO:0021078 biolink:NamedThing glandular papilloma tmpak2llvmy_mondo_relaxed.owl glandular papilloma NCIT:C6880 owl:Class MONDO:0022025 biolink:NamedThing boylan dew greco syndrome tmpak2llvmy_mondo_relaxed.owl congenital hypomyelination neuropathy with arthrogryposis multiplex congenita UMLS:C2931419|MESH:C537083|GARD:0000954 https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome owl:Class HP:0000789 biolink:NamedThing Infertility tmpak2llvmy_mondo_relaxed.owl Infertility MSH:D007246|UMLS:C0021359|SNOMEDCT_US:15296000|SNOMEDCT_US:8619003 human_phenotype owl:Class HP:0000144 biolink:NamedThing Decreased fertility tmpak2llvmy_mondo_relaxed.owl Abnormal fertility|Decreased fertility UMLS:C0520927|SNOMEDCT_US:17276009 human_phenotype owl:Class MONDO:0016774 biolink:NamedThing lichen planus pigmentosus Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. tmpak2llvmy_mondo_relaxed.owl lichen planus pigmentosa|LP pigmentosus|lichen planus pigmentosus inversus|LP pigmentosa UMLS:C0406366|Orphanet:254463|GARD:0010816|SCTID:717061002|ICD10:L43.8 https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus owl:Class MONDO:0005850 biolink:NamedThing milker's nodule Virus diseases caused by the poxviridae. tmpak2llvmy_mondo_relaxed.owl Paravaccinia|milkers' node|Pseudocowpox|milker nodule ICD9:051.9|SCTID:27240009|ICD9:051.1|UMLS:C0026143|ICD10:B08.04|EFO:0007370|MESH:D011213|DOID:8729 owl:Class MONDO:0017039 biolink:NamedThing drug or radiation exposure-related interstitial lung disease tmpak2llvmy_mondo_relaxed.owl UMLS:CN202350|ICD10:J70.0|Orphanet:264978|ICD10:J70.1|ICD10:J70.4|ICD10:J70.2|ICD10:J70.3 owl:Class MONDO:0017040 biolink:NamedThing exposure-related interstitial lung disease tmpak2llvmy_mondo_relaxed.owl Orphanet:264984|UMLS:CN202351 owl:Class MONDO:0007754 biolink:NamedThing hyperhidrosis palmaris ET plantaris tmpak2llvmy_mondo_relaxed.owl hyperhidrosis palmaris ET plantaris|HYPRPP|hyperhidrosis, primary palmar UMLS:C1274743|MESH:C563185|OMIM:144110 owl:Class CL:0001035 biolink:NamedThing bone cell A connective tissue cell found in bone. tmpak2llvmy_mondo_relaxed.owl adiehl 2011-11-16T04:28:16Z cell owl:Class MONDO:0000898 biolink:NamedThing malignant hemangioma A malignant form of hemangioma. tmpak2llvmy_mondo_relaxed.owl hemangioma, malignant DOID:0080189|UMLS:C0474836 Editor note: hemangiomas currently classified as benign. Consider obsoleting these owl:Class MONDO:0043125 biolink:NamedThing mcpherson robertson cammarano syndrome tmpak2llvmy_mondo_relaxed.owl dominantly inherited ptosis, strabismus and ectopic pupils GARD:0003431|UMLS:C2931751|MESH:C538161 owl:Class MONDO:0011084 biolink:NamedThing psoriasis 3, susceptibility to tmpak2llvmy_mondo_relaxed.owl PSORS3|psoriasis 3, susceptibility to DOID:0111283|OMIM:601454 owl:Class MONDO:0011530 biolink:NamedThing mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. tmpak2llvmy_mondo_relaxed.owl mesomelic dysplasia with absent fibulas and triangular tibias|mesomelic dysplasia Savarirayan type|mesomelic dysplasia, Savarirayan type|triangular tibia and fibular aplasia|triangular tibia-fibular aplasia syndrome ICD10:Q78.8|SCTID:715652002|UMLS:C1854470|OMIM:605274|MESH:C565349|Orphanet:85170|GARD:0010584 https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type owl:Class ENVO:00000300 biolink:NamedThing scrubland area Area covered with low-growing or stunted perennial vegetation and usually not mixed with trees. tmpak2llvmy_mondo_relaxed.owl chaparal area|scrubland|heath|bush|shrubland|scrub owl:Class MONDO:0006307 biolink:NamedThing mixed somatotroph-lactotroph pituitary gland adenoma An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. tmpak2llvmy_mondo_relaxed.owl mixed somatotroph-lactotroph pituitary gland adenoma|mixed somatotroph-lactotroph adenoma|mixed Somatolactotrope adenoma|mixed GH-PRL cell adenoma|Mixed somatotroph and lactotroph adenoma EFO:1000383|NCIT:C45927|UMLS:C1709052 owl:Class HGNC:7326 biolink:NamedThing MSH3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024485 biolink:NamedThing papillary urothelial hyperplasia A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003 tmpak2llvmy_mondo_relaxed.owl papillary urothelial hyperplasia NCIT:C27879 owl:Class MONDO:0014363 biolink:NamedThing autosomal recessive nonsyndromic deafness 101 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 101|autosomal recessive deafness 101|DFNB101|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2|deafness, autosomal recessive type 101|GRXCR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 101 UMLS:C3892049|ICD10:H90.3|OMIM:615837|DOID:0110462 owl:Class MONDO:0018549 biolink:NamedThing late-onset scapuloperoneal muscular dystrophy with hyaline bodies tmpak2llvmy_mondo_relaxed.owl late-onset SPMD with hyaline bodies|late-onset scapuloperoneal syndrome, myopathic type 2022-03-01 Orphanet:431263|UMLS:CN237548 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: progressive muscular dystrophy' MONDO_0016106 owl:Class MONDO:0002274 biolink:NamedThing monoclonal paraproteinemia disease A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. tmpak2llvmy_mondo_relaxed.owl paraproteinaemia|monoclonal paraproteinaemia|monoclonal paraproteinemia UMLS:C0026471|DOID:2346|SCTID:267440005|HP:0031047|NCIT:C35878|ICD9:273.1 owl:Class MONDO:0017183 biolink:NamedThing hyperinsulinism due to UCP2 deficiency HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to UCP2 deficiency ICD10:E16.1|Orphanet:276556|UMLS:C4303082|SCTID:721834007 owl:Class MONDO:0003994 biolink:NamedThing botryoid-type embryonal rhabdomyosarcoma of the vagina A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl botryoid-type embryonal rhabdomyosarcoma of the vagina|sarcoma Botryoides of the vagina|vagina botryoid rhabdomyosarcoma|botryoid rhabdomyosarcoma of vagina NCIT:C40268|UMLS:C1511275|DOID:6788 owl:Class MONDO:0016095 biolink:NamedThing vaginal rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina. tmpak2llvmy_mondo_relaxed.owl vagina rhabdomyosarcoma (disease)|vulvovaginal rhabdomyosarcoma|vaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vagina rhabdomyosarcoma UMLS:C4288035|SCTID:766759009|ICD10:C52|NCIT:C128080|Orphanet:206492 owl:Class MONDO:0018674 biolink:NamedThing IgG4-related submandibular gland disease A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones. tmpak2llvmy_mondo_relaxed.owl chronic sclerosing sialadenitis|IgG4-related sialadenitis|Kuttner tumor|Küttner tumor|Kuttner's tumor ICD10:K11.2|SCTID:448131008|NCIT:C82887|Orphanet:449432 Editor note: check this. Unification based on Kuttner tumor synonym owl:Class MONDO:0006874 biolink:NamedThing obstructive jaundice A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. tmpak2llvmy_mondo_relaxed.owl obstructive hyperbilirubinemia|cholestatic jaundice syndrome|cholestatic jaundice UMLS:C0022354|MESH:D041781|SCTID:44018007|MedDRA:10029982|DOID:13603|EFO:1001068 owl:Class MONDO:0010038 biolink:NamedThing growth delay due to insulin-like growth factor I resistance Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). tmpak2llvmy_mondo_relaxed.owl Somatomedin-C, resistance to|resistance to IGF-1|Somatomedin end-organ insensitivity to|IGF-I resistance|Somatomedin, end-organ insensitivity to|growth delay due to insulin-like growth factor I resistance|Somatomedin-c resistance to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|insulin-like growth factor I, resistance to|IGF-1 resistance|insulin-like growth factor 1 resistance to|IGF1RES SCTID:715625007|ICD10:E34.3|UMLS:C1849157|GARD:0010609|MESH:C564816|OMIM:270450|Orphanet:73273 https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to owl:Class GO:0007017 biolink:NamedThing microtubule-based process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2194 biolink:NamedThing COL17A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014703 biolink:NamedThing Adams-Oliver syndrome 6 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene. tmpak2llvmy_mondo_relaxed.owl Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DLL4|Adams-Oliver syndrome type 6|AOS6 UMLS:C4225271|OMIM:616589 owl:Class MONDO:0022782 biolink:NamedThing cleft lower lip cleft lateral canthi chorioretinal tmpak2llvmy_mondo_relaxed.owl GARD:0001386 https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal owl:Class HGNC:17893 biolink:NamedThing PGAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012647 biolink:NamedThing Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpak2llvmy_mondo_relaxed.owl Abnormal inflammatory response UMLS:C4022805 peter 2014-02-01T01:25:42Z human_phenotype owl:Class CHEBI:61313 biolink:NamedThing C21-steroid A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. tmpak2llvmy_mondo_relaxed.owl a C21-steroid owl:Class MONDO:0011423 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. tmpak2llvmy_mondo_relaxed.owl Beta-sarcoglycan limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2E|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|SGCB autosomal recessive limb-girdle muscular dystrophy|beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|LGMD2E|muscular dystrophy, limb-girdle, type 2E|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB ICD10:G71.0|GARD:0000870|DOID:0110279|Orphanet:119|GARD:0003851|OMIM:604286|SCTID:718850008 owl:Class HGNC:18750 biolink:NamedThing RIN2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:76764 biolink:NamedThing EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). tmpak2llvmy_mondo_relaxed.owl EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* inhibitor|EC 3.5.* inhibitors|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors owl:Class MONDO:0009922 biolink:NamedThing Pseudouridinuria and mental defect tmpak2llvmy_mondo_relaxed.owl Pseudouridinuria and mental defect UMLS:C1849648|MESH:C564864|OMIM:264500 owl:Class MONDO:0019821 biolink:NamedThing aneurysm or dilatation of ascending aorta tmpak2llvmy_mondo_relaxed.owl Orphanet:95484|ICD10:Q25.4 owl:Class MONDO:0030859 biolink:NamedThing COACH syndrome 2 tmpak2llvmy_mondo_relaxed.owl COACH2 OMIM:619111 owl:Class HGNC:10547 biolink:NamedThing SC5D tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11408 biolink:NamedThing STK4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000225 biolink:NamedThing negative regulation of testosterone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018061 biolink:NamedThing trichodermodysplasia-dental alterations syndrome Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl Pinheiro Freire-Maia Miranda syndrome|Trichodermodysplasia with dental alterations|Pinheiro-Freire Maia-Miranda syndrome Orphanet:3353|GARD:0004369|UMLS:C2931485|MESH:C537402 owl:Class GO:0008242 biolink:NamedThing omega peptidase activity Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes. tmpak2llvmy_mondo_relaxed.owl peptidase activity, acting on peptides containing modified amino acids owl:Class CHEBI:52625 biolink:NamedThing inorganic hydroxy compound tmpak2llvmy_mondo_relaxed.owl inorganic hydroxides owl:Class MONDO:0014544 biolink:NamedThing osteogenesis imperfecta type 16 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11. tmpak2llvmy_mondo_relaxed.owl OI, type 16|osteogenesis imperfecta type XVI|osteogenesis imperfecta, type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb|OI16|osteogenesis imperfecta, type 16|chromosome 11p11.2 deletion syndrome 91.3-KB OMIM:616229|ICD10:Q78.0|DOID:0110345|UMLS:C4015610 owl:Class MONDO:0006837 biolink:NamedThing low tension glaucoma A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. tmpak2llvmy_mondo_relaxed.owl tension Glaucomas, normal|tension glaucoma, normal|low tension Glaucomas|Glaucomas, normal tension|glaucoma, Low tension|tension Glaucomas, Low|normal tension glaucoma|Glaucomas, Low tension|normal tension Glaucomas|glaucoma, normal tension|tension glaucoma, Low ICD10:H40.12|DOID:13544|SCTID:50485007|MESH:D057066|MedDRA:10024931|EFO:1001022|ICD9:365.12|UMLS:C0152136 owl:Class HGNC:11781 biolink:NamedThing TGM5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024356 biolink:NamedThing primary central sleep apnea syndrome tmpak2llvmy_mondo_relaxed.owl primary central sleep apnea ICD9:327.21|SCTID:9741000119101|UMLS:C0751762|ICD10:G47.31 owl:Class MONDO:0014761 biolink:NamedThing hereditary pediatric Behçet-like disease tmpak2llvmy_mondo_relaxed.owl Behçet-like disease due to haploinsufficiency of A20|Behçet-like disease due to HA20|AISBL|hereditary pediatric Behçet-like disease|autoinflammatory syndrome, familial, Behcet-like Orphanet:476102|OMIM:616744|UMLS:C4225218 owl:Class MONDO:0007991 biolink:NamedThing microcephaly-deafness-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. tmpak2llvmy_mondo_relaxed.owl microcephaly-deafness syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|Kawashima Tsuji syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima-Tsuji syndrome|microcephaly deafness syndrome Orphanet:2533|OMIM:156620|SCTID:716112005|UMLS:C0796062|GARD:0000230|MESH:C537326|ICD10:Q87.8 owl:Class HGNC:11547 biolink:NamedThing TAF15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007652 biolink:NamedThing gastric mucosal hypertrophy MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. tmpak2llvmy_mondo_relaxed.owl giant hypertrophic gastropathy|giant hypertrophy of the gastric mucosa|familial giant hypertrophic gastritis|giant hypertrophic gastritis|gastritis, familial giant hypertrophic|Gastroenteropathy, protein losing|giant rugal hypertrophy of stomach|MENETRIER disease|Menetrier disease|hypertrophic gastropathy|hypertrophic gastritis|Menetrier's disease|hypoproteinemic hypertrophic gastropathy|Ménétrier disease MedDRA:10017807|ICD9:535.2|ICD9:535.21|NCIT:C67277|MedDRA:10017868|SCTID:60002000|OMIM:137280|ICD9:535.20|GARD:0002436|UMLS:C0017155|MESH:D005758|EFO:1000946|DOID:8757|ICD10:K29.6|Orphanet:2494 owl:Class UBERON:0011968 biolink:NamedThing radio-carpal joint A skeletal joint that connects a radius bone and connects a carpal skeleton. tmpak2llvmy_mondo_relaxed.owl radiocarpal articulation|radiocarpal joint|articulatio radiocarpea|wrist joint owl:Class MONDO:0010719 biolink:NamedThing radiation sensitivity of natural killer activity tmpak2llvmy_mondo_relaxed.owl radiation sensitivity of natural killer activity|X-Ray Nk sensitivity MESH:C564066|OMIM:312210|UMLS:C1839408 owl:Class GO:0001705 biolink:NamedThing ectoderm formation The formation of ectoderm during gastrulation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010676 biolink:NamedThing muscular dystrophy, Hemizygous lethal type tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, Hemizygous lethal type MESH:C564097|UMLS:C1839671|OMIM:309950 owl:Class CHEBI:26979 biolink:NamedThing organic heterotricyclic compound An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms. tmpak2llvmy_mondo_relaxed.owl heterotricyclic compounds|organic heterotricyclic compounds owl:Class CHEBI:51959 biolink:NamedThing organic tricyclic compound tmpak2llvmy_mondo_relaxed.owl organic tricyclic compounds owl:Class PATO:0001393 biolink:NamedThing euploid A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001374 biolink:NamedThing ploidy A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000319 biolink:NamedThing rocky slope A rocky slope is a slope which has a surface primarily composed of rock. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:22718 biolink:NamedThing benzoates A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. tmpak2llvmy_mondo_relaxed.owl benzoate anion owl:Class MONDO:0030868 biolink:NamedThing spermatogenic failure 49 tmpak2llvmy_mondo_relaxed.owl SPGF49|spermatogenic failure 49 OMIM:619144 owl:Class UBERON:0001916 biolink:NamedThing endothelium of arteriole An endothelium that is part of an arteriole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl arteriole endothelium owl:Class GO:0043235 biolink:NamedThing receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016077 biolink:NamedThing congenital aortopulmonary window tmpak2llvmy_mondo_relaxed.owl aorto-pulmonary artery fistula|aorta-pulmonary artery fistula|congenital aortopulmonary artery fistula|congenital aortopulmonary septal defect|aortopulmonary fistula UMLS:C2931610|GARD:0000738|Orphanet:2037|ICD10:Q21.4|MESH:C537782 owl:Class MONDO:0003802 biolink:NamedThing cornea cancer A malignant neoplasm involving the cornea. tmpak2llvmy_mondo_relaxed.owl cornea cancer|malignant neoplasm of cornea (primary)|cancer of cornea|malignant cornea tumor|corneal tumor|malignant tumor of cornea|malignant corneal tumor|malignant tumor of the cornea|malignant neoplasm of cornea|malignant corneal neoplasm|malignant neoplasm of the cornea|malignant cornea neoplasm ICD9:190.4|NCIT:C3565|UMLS:C0153629|ICD10:C69.1|DOID:6199|SCTID:363464006 owl:Class MONDO:0033665 biolink:NamedThing deafness, autosomal dominant 78 tmpak2llvmy_mondo_relaxed.owl DFNA78 OMIM:619081 owl:Class MONDO:0019770 biolink:NamedThing X-linked dominant intellectual disability-epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:93951|UMLS:CN227687 owl:Class MONDO:0019204 biolink:NamedThing respiratory bronchiolitis-interstitial lung disease syndrome Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. tmpak2llvmy_mondo_relaxed.owl RB-ILD Orphanet:79127|UMLS:CN205794|MedDRA:10066393|ICD10:J68.4 owl:Class MONDO:0010489 biolink:NamedThing intellectual disability, X-linked 101 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked type 101|MID2 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 101|intellectual disability, X-linked type 101|MRX101|mental retardation, X-linked 101|non-syndromic X-linked intellectual disability caused by mutation in MID2 OMIM:300928|UMLS:C3890168 owl:Class HGNC:14335 biolink:NamedThing PLEKHA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004386 biolink:NamedThing uterine corpus atypical polypoid adenomyoma An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. tmpak2llvmy_mondo_relaxed.owl body of uterus atypical polypoid adenomyoma|atypical polypoid adenomyoma of body of uterus NCIT:C40235|DOID:7878|UMLS:C1519844 owl:Class MONDO:0015546 biolink:NamedThing non-distal monosomy 10q Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. tmpak2llvmy_mondo_relaxed.owl non-distal monosomy type 10q|non-distal deletion 10q|non-telomeric monosomy 10q Orphanet:1581|ICD10:Q93.5 owl:Class MONDO:0009548 biolink:NamedThing renal hypomagnesemia 5 with ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl hypomagnesemia, renal, with ocular involvement|macular coloboma, bilateral, with hypercalciuria|bilateral macular coloboma with hypercalciuria|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|hypomagnesemia 5, renal, with ocular involvement|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|idiopathic hypercalciuria with bilateral macular colobomata|Meier Blumberg Imahorn syndrome|FHHNC with severe ocular involvement|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|HOMG5|FHHNCOI|Meier-Blumberg-Imahorn syndrome|hypercalciuria-bilateral macular coloboma syndrome GARD:0003451|Orphanet:2196|MESH:C536148|OMIM:248190|ICD10:E83.4|DOID:0060881 https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome owl:Class MONDO:0032760 biolink:NamedThing developmental delay with or without dysmorphic facies and autism tmpak2llvmy_mondo_relaxed.owl DEDDFA|DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM OMIM:618454 owl:Class UBERON:0004517 biolink:NamedThing smooth muscle tissue of respiratory bronchiole A portion of smooth muscle tissue that is part of a respiratory bronchiole [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032845 biolink:NamedThing spermatogenic failure 39 tmpak2llvmy_mondo_relaxed.owl SPGF39|SPERMATOGENIC FAILURE 39 OMIM:618643 owl:Class MONDO:0008502 biolink:NamedThing sulfhemoglobinemia, congenital tmpak2llvmy_mondo_relaxed.owl sulfhemoglobinemia, congenital MESH:C566102|UMLS:C1861437|OMIM:185460 owl:Class MONDO:0006988 biolink:NamedThing sulfhemoglobinemia A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl Sulfemoglobinemia SCTID:32117000|MESH:D013436|DOID:12451|EFO:1001200|MedDRA:10042481|UMLS:C0038732 owl:Class MONDO:0024615 biolink:NamedThing T-cell and NK-cell neoplasm tmpak2llvmy_mondo_relaxed.owl T-cell neoplasm|T-cell and NK-cell neoplasm UMLS:C1336554|NCIT:C27908 owl:Class NCBITaxon:2560074 biolink:NamedThing Mammantavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980413 biolink:NamedThing Hantaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043988 biolink:NamedThing zoster sine herpete Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. tmpak2llvmy_mondo_relaxed.owl Zoster sine Eruptione|zoster sine herpete EFO:1001827|UMLS:C1135841|MESH:D031368|SCTID:449783002 owl:Class UBERON:0005145 biolink:NamedThing metanephric comma-shaped body The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019267 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpak2llvmy_mondo_relaxed.owl partial deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut- UMLS:CN205894|SCTID:237946002|Orphanet:79312|ICD10:E71.1 owl:Class HGNC:10254 biolink:NamedThing ROM1 tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0001217 biolink:NamedThing protein_coding_gene A gene that codes for an RNA that can be translated into a protein. tmpak2llvmy_mondo_relaxed.owl protein coding gene owl:Class CL:2000067 biolink:NamedThing cardiac atrium fibroblast Any fibroblast that is part of a cardiac atrium. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6320 TermGenie 2014-10-07T18:36:54Z cell owl:Class MONDO:0001783 biolink:NamedThing endometrial stromal nodule A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. tmpak2llvmy_mondo_relaxed.owl NCIT:C4262|EFO:1000241|DOID:1373|UMLS:C0334485|SCTID:721571001|ICDO:8930/0 owl:Class MONDO:0024517 biolink:NamedThing schwannomatosis 1 tmpak2llvmy_mondo_relaxed.owl SCHWANNOMATOSIS 1|SWNTS1|neurilemmomatosis, congenital cutaneous OMIM:162091|UMLS:C4048809 owl:Class MONDO:0007074 biolink:NamedThing ainhum Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. tmpak2llvmy_mondo_relaxed.owl Dactylolysis spontanea|spontaneous dactylolysis|Dactylolysis|ainhum (disease)|ainhum ainhum (disease) MESH:D000387|UMLS:C0001860|DOID:11329|HP:0031009|OMIM:103400|ICD9:136.0|GARD:0009512|ICD10:L94.6|SCTID:38528001|NCIT:C84544 https://github.com/monarch-initiative/mondo/issues/3605 owl:Class MONDO:0011059 biolink:NamedThing holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. tmpak2llvmy_mondo_relaxed.owl Genoa syndrome|holoprosencephaly craniosynostosis|Camero-Lituania-Cohen syndrome|holoprosencephaly, SEMILOBAR, with craniosynostosis|Semilobar holoprosencephaly and primary craniosynostosis|camera Lituania Cohen syndrome GARD:0002454|SCTID:715434005|OMIM:601370|Orphanet:2163|ICD10:Q04.2|MESH:C537684|UMLS:C1832424 owl:Class MONDO:0004430 biolink:NamedThing penis mixed squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). tmpak2llvmy_mondo_relaxed.owl mixed squamous cell carcinoma of the penis DOID:8009|NCIT:C39959|UMLS:C1513369 owl:Class MONDO:0007894 biolink:NamedThing Leri pleonosteosis Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. tmpak2llvmy_mondo_relaxed.owl pleonosteosis Leri type|chromosome 8q22.1 DUPLICATION syndrome|Leri pleonosteosis|Leri type pleonosteosis|Leri's pleonosteosis UMLS:C1835450|OMIM:151200|ICD10:Q68.8|MESH:C537118|Orphanet:2900|GARD:0000088 https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis owl:Class CL:0002113 biolink:NamedThing B220-low CD38-negative unswitched memory B cell A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class GO:0005584 biolink:NamedThing collagen type I trimer A collagen trimer containing alpha(I) chains. The most common form of type I collagen is a heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; homotrimers containing three alpha1(I) chains are also found. Type I collagen triple helices associate to form banded fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054561 biolink:NamedThing anauxetic dysplasia 2 tmpak2llvmy_mondo_relaxed.owl ANXD2|anauxetic dysplasia 2 OMIM:617396 owl:Class MONDO:0000554 biolink:NamedThing endocervical adenocarcinoma An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. tmpak2llvmy_mondo_relaxed.owl endocervical adenocarcinoma, usual type|endocervix adenocarcinoma DOID:0050940|UMLS:C1263762|NCIT:C127907|UMLS:C4289591|ONCOTREE:ECAD|SCTID:123842006 owl:Class UBERON:0035650 biolink:NamedThing nerve of clitoris Any nerve that innervates the clitoris. tmpak2llvmy_mondo_relaxed.owl clitoris nerve|clitoral nerve owl:Class NCBITaxon:36086 biolink:NamedThing Trichuris tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003252 biolink:NamedThing granular cell cancer An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. tmpak2llvmy_mondo_relaxed.owl granular cell tumor, malignant (morphologic abnormality)|malignant granular cell neoplasm|granular cell tumor, malignant|malignant granular cell myoblastoma|malignant granular cell tumor|myoblastoma, malignant DOID:5042|ICDO:9580/3|UMLS:C0334618|NCIT:C4336|ICD9:171.9|SCTID:404041003 owl:Class MONDO:0009702 biolink:NamedThing myopathy due to malate-aspartate shuttle defect tmpak2llvmy_mondo_relaxed.owl myopathy due to malate-aspartate shuttle defect OMIM:254960|UMLS:C1850744|MESH:C564973 owl:Class CHEBI:35134 biolink:NamedThing metalloprotein tmpak2llvmy_mondo_relaxed.owl metalloproteine|metalloproteins|metalloprotein owl:Class MONDO:0006317 biolink:NamedThing neurothekeoma A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma. tmpak2llvmy_mondo_relaxed.owl nerve sheath Myxoma|neurothekeoma ICDO:9562/0|NCIT:C7018|EFO:1000394|MESH:D018321|UMLS:C0206730 owl:Class MONDO:0021081 biolink:NamedThing anti-NMDA receptor encephalitis An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. tmpak2llvmy_mondo_relaxed.owl anti-NMDA receptor encephalitis MESH:D060426|NCIT:C94853 owl:Class HGNC:13825 biolink:NamedThing ASPSCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012530 biolink:NamedThing palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. tmpak2llvmy_mondo_relaxed.owl palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome|palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal Orphanet:85112|MESH:C567165|OMIM:610644|ICD10:Q56.0 owl:Class MONDO:0014055 biolink:NamedThing epilepsy, familial adult myoclonic, 4 tmpak2llvmy_mondo_relaxed.owl FAME4|cortical myoclonic tremor with epilepsy, familial, 4|epilepsy, familial ADULT myoclonic, 4 OMIM:615127|UMLS:C3554560|DOID:0111693 owl:Class GO:0006760 biolink:NamedThing folic acid-containing compound metabolic process The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. tmpak2llvmy_mondo_relaxed.owl folate and derivative metabolic process|folic acid and derivative metabolic process|folic acid and derivative metabolism|folate-containing compound metabolic process|vitamin M and derivative metabolic process|folate and derivative metabolism|vitamin M and derivative metabolism|folate-containing compound metabolism|folic acid-containing compound metabolism|vitamin B9 and derivative metabolic process|vitamin B9 and derivative metabolism owl:Class MONDO:0018680 biolink:NamedThing cutaneous pseudolymphoma A pseudolymphoma of the skin. tmpak2llvmy_mondo_relaxed.owl lymphadenosis Benigna cutis|pseudolymphoma of Spiegler|lymphocytoma cutis SCTID:128862000|NCIT:C62776|ICD10:L98.6|UMLS:C0311220|Orphanet:451607 owl:Class PR:000001006 biolink:NamedThing receptor-type tyrosine-protein phosphatase C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006050 biolink:NamedThing pleomorphic breast carcinoma A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate. tmpak2llvmy_mondo_relaxed.owl anaplastic breast carcinoma UMLS:C1514169|EFO:1000047|UMLS:C2211689|NCIT:C5161 _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 owl:Class MONDO:0020503 biolink:NamedThing resistance to thyrotropin-releasing hormone syndrome Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. tmpak2llvmy_mondo_relaxed.owl central hypothyroidism due to TRH receptor deficiency|TRH resistance syndrome UMLS:CN207394|ICD10:E03.1|Orphanet:99832|SCTID:725462002 owl:Class MONDO:0029132 biolink:NamedThing Liddle syndrome 3 tmpak2llvmy_mondo_relaxed.owl Liddle syndrome 3|LIDLS3 OMIM:618126 owl:Class MONDO:0054802 biolink:NamedThing erythrocytosis, familial, 7 tmpak2llvmy_mondo_relaxed.owl erythrocytosis, Alpha-globin type|polycythemia, Alpha-globin type|erythrocytosis, FAMILIAL, 7|ECYT7 UMLS:CN244942|OMIM:617981|DOID:0111631 owl:Class MONDO:0008225 biolink:NamedThing normokalemic periodic paralysis tmpak2llvmy_mondo_relaxed.owl normokalemic PP|NormoKPP|potassium-sensitive normokalemic periodic paralysis|normokalemic periodic paralysis|periodic paralysis type 3 Orphanet:680|SCTID:40381009|OMIM:170600|UMLS:C0268445|NCIT:C122791|GARD:0004009 Editor note: NCIT says SNC4A, check this owl:Class UBERON:0013228 biolink:NamedThing sweat gland of eyelid Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye. tmpak2llvmy_mondo_relaxed.owl ciliary gland|Moll's gland|gland of Moll|ciliary sweat gland of eyelid|ciliary gland of moll owl:Class MONDO:0018000 biolink:NamedThing hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. tmpak2llvmy_mondo_relaxed.owl thrombocythemia with distal limb defects|familial thrombocytosis with transverse limb defect Orphanet:329319|ICD10:Q87.2|UMLS:CN204208 owl:Class HP:0010919 biolink:NamedThing Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023651 peter 2010-12-11T11:48:52Z human_phenotype owl:Class MONDO:0000014 biolink:NamedThing colorblindness, partial tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011924 biolink:NamedThing panic disorder 2 tmpak2llvmy_mondo_relaxed.owl Pand2|panic disorder 2|panic disorder susceptibility locus, chromosome 9Q-related|panic disorder type 2 UMLS:C1842922|OMIM:607853 owl:Class MONDO:0025457 biolink:NamedThing pulmonary adenomatosis, ovine A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. tmpak2llvmy_mondo_relaxed.owl Adenomatoses, pulmonary Ovine|pulmonary carcinomas, Ovine|carcinomas, Ovine pulmonary|Ovine Adenomatoses, pulmonary|Ovine adenomatosis, pulmonary|adenomatosis, Ovine pulmonary|Ovine pulmonary carcinoma|Jaagsiekte|pulmonary carcinoma, Ovine|pulmonary Adenomatoses, Ovine|Ovine pulmonary Adenomatoses|carcinoma, Ovine pulmonary|Ovine pulmonary carcinomas|pulmonary Ovine Adenomatoses|pulmonary Ovine adenomatosis|adenomatosis, pulmonary, Ovine|Ovine pulmonary adenomatosis|adenomatosis, pulmonary Ovine|Adenomatoses, Ovine pulmonary UMLS:C0034049|MESH:D011648 owl:Class MONDO:0016873 biolink:NamedThing partial deletion of chromosome 8 tmpak2llvmy_mondo_relaxed.owl partial monosomy of chromosome 8|partial deletion of chromosome type 8 ICD10:Q93.5|Orphanet:261801 owl:Class MONDO:0001203 biolink:NamedThing prolapse of lacrimal gland tmpak2llvmy_mondo_relaxed.owl dislocation of lacrimal gland ICD10:H04.16|DOID:11134|UMLS:C0155231|SCTID:84777002|ICD9:375.16 owl:Class MONDO:0013654 biolink:NamedThing aneurysm, intracranial berry, 11 tmpak2llvmy_mondo_relaxed.owl aneurysm, intracranial BERRY, 11|ANIB11 UMLS:C3280275|OMIM:614252 owl:Class ENVO:00002202 biolink:NamedThing organically enriched sediment Chemically-enriched sediment which has increased levels of organic compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0035370 biolink:NamedThing ALPI-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene. tmpak2llvmy_mondo_relaxed.owl 2021-12-01 Orphanet:597887 Reason: out of scope. Term to consider: MONDO_0005265 'inflammatory bowel disease'. https://github.com/monarch-initiative/mondo/issues/3543 owl:Class UBERON:0009669 biolink:NamedThing embryonic cloacal lumen An anatomical space that surrounded_by a embryonic cloaca. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100041 biolink:NamedThing secondary trimethylaminuria A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://rarediseases.org/rare-diseases/trimethylaminuria/|https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0011182 biolink:NamedThing trimethylaminuria A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. tmpak2llvmy_mondo_relaxed.owl TMAU|fish malodor syndrome|fish odor syndrome|fish-odor syndrome|trimethylaminuria|trimethylaminuria (disease)|TMAuria|stale fish syndrome trimethylaminuria (disease) HP:0003614|UMLS:C0342739|SCTID:237959005|GARD:0006447 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class CHEBI:39015 biolink:NamedThing apolipoprotein Protein component on the surface of lipoprotein. tmpak2llvmy_mondo_relaxed.owl apolipoproteins owl:Class MONDO:0030261 biolink:NamedThing pontocerebellar hypoplasia, type 1F tmpak2llvmy_mondo_relaxed.owl PCH1F|pontocerebellar hypoplasia, type 1F OMIM:619304 owl:Class MONDO:0006774 biolink:NamedThing habitual spontaneous abortion Three or more consecutive spontaneous abortions. tmpak2llvmy_mondo_relaxed.owl EFO:1000954|ICD10:N96|MESH:D000026|SCTID:102878001|MedDRA:10062935 owl:Class MONDO:0016057 biolink:NamedThing isolated encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. tmpak2llvmy_mondo_relaxed.owl cranium bifidum|bifid cranium|encephalocele|craniocele GARD:0006333|ICD10:Q01.1|ICD10:Q01.9|ICD10:Q01.2|ICD10:Q01.8|Orphanet:199647|MedDRA:10014617|ICD10:Q01.0 owl:Class MONDO:0020407 biolink:NamedThing complete atrioventricular canal-ventricle hypoplasia syndrome tmpak2llvmy_mondo_relaxed.owl CAVC type B|CAVC-ventricle hypoplasia syndrome|complete atrioventricular canal type B Orphanet:99067|UMLS:CN207279|ICD10:Q21.2 owl:Class MONDO:0017014 biolink:NamedThing interstitial lung disease specific to childhood A interstitial lung disease that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric interstitial lung disease|interstitial lung disease of childhood|childhood interstitial lung disease|ILD specific to childhood UMLS:CN202324|Orphanet:264656|SCTID:328661000119108 owl:Class MONDO:0043543 biolink:NamedThing iatrogenic disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. tmpak2llvmy_mondo_relaxed.owl hospital-acquired conditions|iatrogenic diseases|hospital-acquired condition|diseases, iatrogenic|iatrogenic disorder|hospital acquired condition|conditions, hospital-acquired|condition, hospital-acquired|disease, iatrogenic UMLS:C0020732|SCTID:12456005|ICD9:799.9|MESH:D007049 owl:Class MONDO:0013315 biolink:NamedThing retinitis pigmentosa 57 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in PDE6G|retinitis pigmentosa type 57|RP57|PDE6G retinitis pigmentosa|retinitis pigmentosa 57 ICD10:H35.5|DOID:0110407|UMLS:C3150821|OMIM:613582 owl:Class UBERON:0036657 biolink:NamedThing wall of fourth ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24529 biolink:NamedThing TMEM98 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007083 biolink:NamedThing autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. tmpak2llvmy_mondo_relaxed.owl PPK-CA, Stevanovic type|PPKCA1|alopecia congenita with hyperkeratosis of the palms and soles|Ppkca, Stevanovic type|palmoplantar keratoderma and congenital alopecia 1|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|palmoplantar keratoderma and congenital alopecia type 1 ICD10:Q82.8|GARD:0000604|Orphanet:1010|OMIM:104100|SCTID:719518004 https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia owl:Class MONDO:0001543 biolink:NamedThing lesion of sciatic nerve A peripheral nerve lesion that involves the sciatic nerve. tmpak2llvmy_mondo_relaxed.owl peripheral nerve lesion of sciatic nerve|sciatic nerve peripheral nerve lesion SCTID:367137004|UMLS:C0154748|DOID:12528|ICD10:G57.0|ICD10:G57.00|ICD9:355.0 owl:Class GO:0043604 biolink:NamedThing amide biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014461 biolink:NamedThing hypogonadotropic hypogonadism 22 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. tmpak2llvmy_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in FEZF1|FEZF1 hypogonadotropic hypogonadism|HH22|hypogonadotropic hypogonadism 22 with or without anosmia ICD10:E23.0|DOID:0090081|OMIM:616030|UMLS:C4014988 owl:Class MONDO:0009969 biolink:NamedThing renal-genital-middle ear anomalies tmpak2llvmy_mondo_relaxed.owl renal, genital, and middle EAR anomalies|renal genital middle ear anomalies GARD:0004664|UMLS:C1849432|MESH:C564849|Orphanet:1092|ICD10:Q87.8|OMIM:267400 https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies owl:Class HGNC:4913 biolink:NamedThing HIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008528 biolink:NamedThing tear protein, anodal tmpak2llvmy_mondo_relaxed.owl tear protein, anodal UMLS:C1861283|OMIM:186890 owl:Class MONDO:0001429 biolink:NamedThing transient arthropathy Arthropathy that is not permanent. tmpak2llvmy_mondo_relaxed.owl transient arthropathy involving shoulder region|transient arthropathy involving hand|transient arthropathy involving upper arm|transient arthropathy involving forearm|transient arthropathy involving multiple sites|transient arthropathy involving lower leg|transient arthropathy involving pelvic region and thigh SCTID:66191007|ICD9:716.48|DOID:12084|NCIT:C35761|ICD9:716.40|ICD9:716.41 owl:Class MONDO:0004541 biolink:NamedThing pseudoglandular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. tmpak2llvmy_mondo_relaxed.owl testicular seminoma, pseudoglandular variant DOID:8358|NCIT:C40958|UMLS:C1515293 owl:Class ENVO:01000283 biolink:NamedThing lake layer A layer which is part of a lake. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006476 biolink:NamedThing Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025043 peter 2008-03-28T04:41:00Z HP:0100567 human_phenotype owl:Class HP:0012093 biolink:NamedThing Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023047 peter 2012-08-20T09:18:18Z human_phenotype owl:Class MONDO:0001828 biolink:NamedThing acquired color blindness Non-heritable difficulty in distinguishing colors. tmpak2llvmy_mondo_relaxed.owl acquired color vision deficiencies|acquired color vision deficiency|acquired color vision disorder SCTID:71676008|ICD10:H53.52|NCIT:C118712|DOID:13912|ICD9:368.55 owl:Class NBO:0000327 biolink:NamedThing somatic sensation related behavior "Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016067 biolink:NamedThing Crandall syndrome This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. tmpak2llvmy_mondo_relaxed.owl alopecia-sensorineural deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-deafness-hypogonadism syndrome SCTID:278098005|Orphanet:202|GARD:0001561|UMLS:C0432348|ICD9:704.8 https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome owl:Class MONDO:0013026 biolink:NamedThing subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. tmpak2llvmy_mondo_relaxed.owl SMCD|subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous SCTID:723582004|OMIM:612867|Orphanet:98959|UMLS:C2748503|MESH:C567547|ICD10:H18.5|DOID:0060454 owl:Class MONDO:0010012 biolink:NamedThing autoimmune polyendocrinopathy type 2 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. tmpak2llvmy_mondo_relaxed.owl polyglandular deficiency syndrome type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|Schmidt syndrome|Schmidt's syndrome|APS2|diabetes mellitus, Addison's disease, myxedema|multiple endocrine deficiency syndrome, type 2|APS 2|polyglandular autoimmune syndrome, type 2|PGA 2|polyendocrine autoimmune syndrome, type 2|APS type 2|autoimmune polyglandular syndrome type 2|diabetes mellitus, Addison disease, myxedema|autoimmune polyendocrine syndrome, type II|autoimmune polyendocrine syndrome type 2 SCTID:83728000|GARD:0007611|ICD10:E31.0|Orphanet:3143|OMIM:269200|DOID:0050168|ICD9:258.8|NCIT:C129728 owl:Class HGNC:3529 biolink:NamedThing F11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410048 biolink:NamedThing venule of colon A venule located in the colon. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004421 biolink:NamedThing proximal epiphysis of phalanx of manual digit 5 A proximal epiphysis that is part of a manual digit 5 phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl basal epiphysis of phalanx of fifth finger|base of phalanx of little finger|proximal epiphysis of phalanx of manual digit 5|base of phalanx of fifth finger|proximal epiphysis of phalanx of little finger|base of phalanx of fifth digit of hand|proximal epiphysis of phalanx of manual digit V|basal epiphysis of phalanx of little finger owl:Class UBERON:0009958 biolink:NamedThing bladder lumen A anatomical space that is enclosed by a urinary bladder. tmpak2llvmy_mondo_relaxed.owl lumen of urinary bladder|urinary bladder lumen|bladder cavity|cavity of urinary bladder owl:Class UBERON:0005001 biolink:NamedThing mucosa of common hepatic duct A mucosa that is part of a common hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl common hepatic ductal mucosa|hepatic duct mucosa of organ|common hepatic duct mucosa|organ mucosa of hepatic duct|mucosa of organ of hepatic duct|organ mucosa of common hepatic duct|common hepatic duct mucosa of organ|common hepatic duct mucous membrane|hepatic duct mucosa|hepatic duct organ mucosa|common hepatic duct organ mucosa|hepatic duct mucous membrane|mucosa of organ of common hepatic duct|mucosa of hepatic duct|mucous membrane of common hepatic duct|mucous membrane of hepatic duct owl:Class GO:1905747 biolink:NamedThing negative regulation of saliva secretion Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion. tmpak2llvmy_mondo_relaxed.owl down regulation of saliva secretion|inhibition of salivation|down-regulation of salivation|inhibition of saliva secretion|down-regulation of saliva secretion|downregulation of saliva secretion|down regulation of salivation|downregulation of salivation|negative regulation of salivation owl:Class MONDO:0007111 biolink:NamedThing aneurysm, intracranial berry type 1 tmpak2llvmy_mondo_relaxed.owl aneurysmal subarachnoid hemorrhage, familial|aneurysm, intracranial berry, 1|ANIB1 OMIM:105800|UMLS:C1862932|MESH:C566284 owl:Class MONDO:0017746 biolink:NamedThing atypical Rett syndrome Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). tmpak2llvmy_mondo_relaxed.owl Rett syndrome variant|Rett like syndrome|atypical RTT Orphanet:3095|SCTID:718393002|UMLS:C2748910|GARD:0004694|ICD10:F84.2 owl:Class MONDO:0002809 biolink:NamedThing pancreatic cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of the pancreas|cystadenoma of pancreas UMLS:C0341486|SCTID:235967003|DOID:3918|NCIT:C4374 owl:Class MONDO:0000412 biolink:NamedThing neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. tmpak2llvmy_mondo_relaxed.owl DOID:0050702 Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 owl:Class SO:0001500 biolink:NamedThing heritable_phenotypic_marker A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus. tmpak2llvmy_mondo_relaxed.owl phenotypic marker|heritable phenotypic marker owl:Class SO:0001645 biolink:NamedThing genetic_marker A measurable sequence feature that varies within a population. tmpak2llvmy_mondo_relaxed.owl genetic marker owl:Class MONDO:0011110 biolink:NamedThing dyssegmental dysplasia-glaucoma syndrome This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. tmpak2llvmy_mondo_relaxed.owl dyssegmental dysplasia and glaucoma|dyssegmental dysplasia with glaucoma UMLS:C1832111|GARD:0002025|Orphanet:1804|MESH:C563290|OMIM:601561 https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma owl:Class MONDO:0019800 biolink:NamedThing chronic hepatic porphyria Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). tmpak2llvmy_mondo_relaxed.owl acute hepatic porphyria, chronic|chronic acute hepatic porphyria ICD10:E80.2|Orphanet:95161 owl:Class MONDO:0005796 biolink:NamedThing HIV enteropathy A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) tmpak2llvmy_mondo_relaxed.owl EFO:0007311|MESH:D019053|UMLS:C0282616 owl:Class IAO:8000016 biolink:NamedThing taxonomic bridge ontology module tmpak2llvmy_mondo_relaxed.owl taxonomic bridge ontology module owl:Class IAO:8000004 biolink:NamedThing bridge ontology module An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module. tmpak2llvmy_mondo_relaxed.owl bridge ontology module owl:Class UBERON:0003420 biolink:NamedThing mesenchyme of sublingual gland Mesenchyme that is part of a developing sublingual gland [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ductus sublingualis mesenchyme|sublingual gland mesenchyme|mesenchyme of ductus sublingualis|mesenchyme of Rivinus'gland|Rivinus'gland mesenchyme owl:Class CHEBI:51721 biolink:NamedThing alpha,beta-unsaturated ketone A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. tmpak2llvmy_mondo_relaxed.owl alpha,beta-unsaturated ketones owl:Class MONDO:0012741 biolink:NamedThing prostate cancer, hereditary, 12 Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene. tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, type 12|prostate cancer, hereditary, 12|EHBP1 familial prostate cancer|familial prostate cancer caused by mutation in EHBP1|HPC12 MESH:C567510|UMLS:C2678479|OMIM:611868 owl:Class MONDO:0022615 biolink:NamedThing burn goodship syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001041 https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome owl:Class HGNC:12572 biolink:NamedThing UNG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006946 biolink:NamedThing renal osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. tmpak2llvmy_mondo_relaxed.owl renal Osteodystrophies|Osteodystrophies, renal|osteodystrophy, renal|rickets, renal|renal rickets MedDRA:10038489|UMLS:C0035086|SCTID:16726004|GARD:0007551|ICD10:N25.0|EFO:1001152|DOID:13068|ICD9:588.0|MESH:D012080 owl:Class ENVO:01000997 biolink:NamedThing environmental system determined by a quality An environmental system which is determined by materials bearing roughly homogeneous qualities. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003430 biolink:NamedThing prolactin producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. tmpak2llvmy_mondo_relaxed.owl prolactin secreting neoplasm of pituitary gland|PRL producing pituitary gland neoplasm|prolactin producing neoplasm of the pituitary|prolactin secreting tumor of the pituitary|prolactin producing tumor of the pituitary|prolactin producing neoplasm of pituitary|prolactin producing neoplasm of pituitary gland|prolactin-producing pituitary gland tumor|malignant prolactinoma|prolactin producing tumor of the pituitary gland|prolactin secreting pituitary neoplasm|prolactin secreting neoplasm of the pituitary gland|prolactin secreting pituitary gland neoplasm|malignant prolactin producing neoplasm of pituitary gland|prolactin secreting neoplasm of pituitary|prolactin producing pituitary gland neoplasm|prolactin secreting tumor of the pituitary gland|prolactin secreting pituitary tumor|prolactin secreting tumor of pituitary gland|prolactin producing pituitary tumor|prolactin producing tumor of pituitary|prolactin-producing pituitary gland neoplasm|prolactin producing pituitary neoplasm|prolactin producing pituitary tumour|prolactin producing pituitary gland tumor|prolactin secreting neoplasm of the pituitary|prolactin producing tumor of pituitary gland|prolactin secreting pituitary gland tumor|prolactin producing neoplasm of the pituitary gland|prolactin secreting tumor of pituitary NCIT:C7910|DOID:5396|UMLS:C0278863 owl:Class MONDO:0005568 biolink:NamedThing cholesterol embolism Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. tmpak2llvmy_mondo_relaxed.owl atheroembolism|purple toe syndrome|cholesterol crystal embolism|trash foot|warfarin blue toe syndrome EFO:0005801|UMLS:C0149649|ICD10:I75|MESH:D017700|ICD9:445|UMLS:C0585266|DOID:1461|SCTID:307406004|ICD9:459.89 owl:Class MONDO:0015761 biolink:NamedThing trisomy 10p Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. tmpak2llvmy_mondo_relaxed.owl trisomy type 10p|10p trisomy|partial trisomy 10p|Duplication 10p|chromosome 10p duplication|10p duplication Orphanet:171929|ICD10:Q92.2|UMLS:C4082793|GARD:0005299|SCTID:717157006|MESH:C538290 owl:Class MONDO:0011613 biolink:NamedThing autosomal recessive early-onset Parkinson disease 6 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. tmpak2llvmy_mondo_relaxed.owl Parkinson disease 6, early-onset|autosomal recessive early-onset Parkinson's disease 6|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|Parkinson disease caused by mutation in PINK1|autosomal recessive early-onset Parkinson disease type 6|Parkinson disease 6, late-onset, susceptibility to|autosomal recessive early-onset Parkinson disease 6|PINK1 Parkinson disease|PARK6|Parkinson disease 6, autosomal recessive early-onset|early-onset Parkinson disease 6 OMIM:605909|DOID:0060369|MESH:C565276 owl:Class MONDO:0022791 biolink:NamedThing coarse face hypotonia constipation tmpak2llvmy_mondo_relaxed.owl Sondheimer syndrome GARD:0001412 https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation owl:Class MONDO:0002411 biolink:NamedThing narcissistic personality disorder A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. tmpak2llvmy_mondo_relaxed.owl ICD9:301.81|DOID:2745|ICD10:F60.81|NCIT:C92635|SCTID:80711002 owl:Class PO:0020148 biolink:NamedThing shoot apical meristem A shoot system meristem (PO:0006079) formed at the apex of the shoot axis (PO:0025029), including those originating from an axillary bud meristem (PO:0000232). tmpak2llvmy_mondo_relaxed.owl meristema apical del epiblasto (epiblastema) (Spanish, exact)|SAM (exact)|promeristem (broad)|茎頂分裂組織 (Japanese, exact)|primary shoot meristem (related) PO_GIT:472 plant_anatomy owl:Class MONDO:0015723 biolink:NamedThing trisomy 12p Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. tmpak2llvmy_mondo_relaxed.owl 12p trisomy|trisomy type 12p|12p duplication|Duplication 12p|chromosome 12p duplication|partial trisomy 12p GARD:0005305|MESH:C538299|UMLS:C0795845|Orphanet:1699|ICD10:Q92.3 owl:Class MONDO:0022538 biolink:NamedThing leukoplakia of gingiva A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis. tmpak2llvmy_mondo_relaxed.owl Gingival Leukoplakia|leukoplakia of gingiva|Leukoplakia of gingiva|Leukoplakia of Gingiva|gingival leukoplakia ICD9:528.6|SCTID:32236000|NCIT:C3881|UMLS:C0239737 owl:Class MONDO:0010885 biolink:NamedThing angiokeratoma corporis diffusum with arteriovenous fistulas tmpak2llvmy_mondo_relaxed.owl angiokeratoma corporis diffusum with arteriovenous fistulas OMIM:600419|MESH:C563940|UMLS:C1838141 owl:Class MONDO:0018060 biolink:NamedThing congenital fibrinogen deficiency Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). tmpak2llvmy_mondo_relaxed.owl fibrinogen deficiency, congenital|congenital fibrinogen deficiency GARD:0002320|Orphanet:335|ICD10:D68.2 https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital owl:Class HP:0001907 biolink:NamedThing Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. tmpak2llvmy_mondo_relaxed.owl Blood clot in blood vessel|Thromboembolic events|Embolism and thrombosis|Thromboembolic disease SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|MSH:D013923|UMLS:C0040038|MSH:D016769|UMLS:C0085307 human_phenotype owl:Class HP:0031348 biolink:NamedThing Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. tmpak2llvmy_mondo_relaxed.owl D-loop transposition of the great arteries|D-TGA 2017-08-27 14:17:00+00:00 Fyler:700|Fyler:0700 peter human_phenotype owl:Class HP:0001669 biolink:NamedThing Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. tmpak2llvmy_mondo_relaxed.owl Transposition of great vessels SNOMEDCT_US:204296002|UMLS:C3536741|SNOMEDCT_US:26146002 human_phenotype owl:Class FOODON:03400306 biolink:NamedThing nut or seed product (us cfr) tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0306 http://langual.org owl:Class GO:0014848 biolink:NamedThing urinary tract smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003903 biolink:NamedThing benign vaginal mixed tumor A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl benign vaginal mixed tumor|vaginal spindle cell epithelioma DOID:6505|UMLS:C1511107|NCIT:C40280 owl:Class MONDO:0043320 biolink:NamedThing piriformis syndrome A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. tmpak2llvmy_mondo_relaxed.owl syndrome, piriformis muscle|hip socket neuropathy|pelvic outlet syndrome|Pseudosciatica|syndromes, piriformis muscle|piriformis syndrome|muscle syndromes, piriformis|wallet sciatica|syndrome, piriformis|deep gluteal syndrome|piriformis muscle syndrome|syndromes, piriformis|pyriformis syndrome|piriformis muscle syndromes|muscle syndrome, piriformis|piriformis syndromes UMLS:C0458224|GARD:0010026|SCTID:129179000|NCIT:C85012|MESH:D055958 owl:Class MONDO:0016440 biolink:NamedThing elastofibroma dorsi A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules. tmpak2llvmy_mondo_relaxed.owl Elastofibroma UMLS:CN226932|NCIT:C4245|ICDO:8820/0|Orphanet:228243|UMLS:C0334460 owl:Class HP:0000790 biolink:NamedThing Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). tmpak2llvmy_mondo_relaxed.owl High urine occult blood|Blood in urine MSH:D006417|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|UMLS:C0018965 human_phenotype owl:Class HP:0012614 biolink:NamedThing Abnormal urine cytology An anomalous finding in the examination of the urine for cells. tmpak2llvmy_mondo_relaxed.owl UMLS:C0587955|SNOMEDCT_US:310439007 peter 2014-01-17T12:01:16Z human_phenotype owl:Class MONDO:0000716 biolink:NamedThing agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. tmpak2llvmy_mondo_relaxed.owl ICD10:R48.8|DOID:0060223 owl:Class MONDO:0002101 biolink:NamedThing facial nerve neoplasm A neoplasm involving a facial nerve. tmpak2llvmy_mondo_relaxed.owl seventh cranial nerve neoplasm|neoplasm of the seventh cranial nerve|tumor of seventh cranial nerve|neoplasm of seventh cranial nerve|facial nerve neoplasms|seventh cranial nerve tumors|neoplasm of Facial nerve|facial nerve tumor|neoplasm of facial nerve|tumor of the Facial nerve|tumor of facial nerve|facial nerve neoplasm|seventh cranial nerve tumor|neoplasm of the Facial nerve|tumor of Facial nerve|tumor of the seventh cranial nerve|facial nerve neoplasm (disease)|VIIth cranial nerve tumors|facial nerve tumors|VIIth cranial nerve neoplasms|seventh cranial nerve neoplasms UMLS:C1263899|ICD9:239.7|SCTID:126973004|NCIT:C5827|DOID:1760 owl:Class MONDO:0011134 biolink:NamedThing curry-Jones syndrome Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. tmpak2llvmy_mondo_relaxed.owl corpus callosum agenesis polysyndactyly|CRJS|curry Jones syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|curry-Jones syndrome|corpus callosum agenesis-polysyndactyly syndrome|curry-JONES syndrome Orphanet:1553|UMLS:C0795915|OMIM:601707|SCTID:720819006|ICD10:Q87.0|GARD:0005584|MESH:C536735 https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome owl:Class MONDO:0018573 biolink:NamedThing intrauterine growth restriction-short stature-early adult-onset diabetes syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.1|UMLS:CN237586|Orphanet:436144 owl:Class MONDO:0004093 biolink:NamedThing esophageal basaloid carcinoma A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) tmpak2llvmy_mondo_relaxed.owl esophageal basaloid squamous cell carcinoma|basaloid squamous carcinoma of the esophagus|basaloid squamous carcinoma of esophagus|esophageal basaloid carcinoma|esophageal basaloid cancer DOID:7051|NCIT:C7032|UMLS:C1333443 owl:Class MONDO:0018639 biolink:NamedThing caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:444941 owl:Class MONDO:0024665 biolink:NamedThing indeterminate sex and/or pseudohermaphroditism tmpak2llvmy_mondo_relaxed.owl gynandrism ICD10:Q56|SCTID:268229003|ICD9:752.7 owl:Class MONDO:0008910 biolink:NamedThing carboxypeptidase N deficiency An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. tmpak2llvmy_mondo_relaxed.owl carboxypeptidase N deficiency ICD9:279.8|SCTID:234627009|MESH:C562876|DOID:0111583|UMLS:C0398782|NCIT:C132196|OMIM:212070 owl:Class MONDO:0008602 biolink:NamedThing triglyceride storage disease, type 2 tmpak2llvmy_mondo_relaxed.owl triglyceride storage disease, type II OMIM:190430|UMLS:C1860820|MESH:C566030 owl:Class ECTO:0000637 biolink:NamedThing exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor owl:Class MONDO:0008256 biolink:NamedThing platelet membrane fluidity tmpak2llvmy_mondo_relaxed.owl PMF|platelet membrane fluidity OMIM:173560 owl:Class MONDO:0023227 biolink:NamedThing gestational diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. tmpak2llvmy_mondo_relaxed.owl Gestagenic diabetes insipidus|diabetes insipidus gestational MESH:C548014|UMLS:C2932666|GARD:0010702 https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus owl:Class IAO:8000005 biolink:NamedThing import ontology module A subset ontology module that is intended to be imported from another ontology. tmpak2llvmy_mondo_relaxed.owl import file TODO: add axioms that indicate this is the output of a module extraction process. import ontology module owl:Class MONDO:0004031 biolink:NamedThing ovary mixed epithelial carcinoma tmpak2llvmy_mondo_relaxed.owl mixed ovarian carcinoma|mixed epithelial carcinoma of ovary ONCOTREE:MXOV|DOID:6898 Editor note: TODO owl:Class CL:2000010 biolink:NamedThing dermis blood vessel endothelial cell Any blood vessel endothelial cell that is part of a dermis. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:12:06Z cell owl:Class MONDO:0016978 biolink:NamedThing poorly differentiated thymic neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl Orphanet:263339|ICD10:C37|UMLS:CN202280|SCTID:717921000 owl:Class MONDO:0004238 biolink:NamedThing petrous apex meningioma A meningioma that affects the petrous apex. tmpak2llvmy_mondo_relaxed.owl petrous ridge meningioma|meningioma of petrous ridge|meningioma of the petrous apex|meningioma of the petrous ridge|meningioma of petrous apex DOID:7482|UMLS:C1335396|NCIT:C5271 owl:Class HGNC:7529 biolink:NamedThing MVD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007676 biolink:NamedThing glutathione transferase activity toward trans-stilbene oxide tmpak2llvmy_mondo_relaxed.owl trans-stilbene oxide glutathione transferase activity|glutathione transferase activity toward trans-stilbene oxide OMIM:138340 owl:Class NCBITaxon:43816 biolink:NamedThing Anophelinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006904 biolink:NamedThing phimosis A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. tmpak2llvmy_mondo_relaxed.owl tight foreskin|tight frenulum EFO:1001104|NCIT:C26852|MESH:D010688|SCTID:449826002|MedDRA:10034878|DOID:2712|ICD10:N47.1 owl:Class MONDO:0019840 biolink:NamedThing acropectororenal dysplasia Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. tmpak2llvmy_mondo_relaxed.owl brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys|acro-pectoro-renal field defect Orphanet:956|SCTID:720413004|ICD10:Q87.8|GARD:0000511 https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect owl:Class HGNC:28900 biolink:NamedThing PNPLA8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018378 biolink:NamedThing osteonecrosis of the jaw An area of necrotic bone in the mandible or maxilla. tmpak2llvmy_mondo_relaxed.owl jaw osteonecrosis|osteonecrosis of jaw|ONJ UMLS:C2711248|SCTID:441809006|ICD10:K10.2|NCIT:C63924|ICD9:733.45|Orphanet:399293 owl:Class CHEBI:37527 biolink:NamedThing acid An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). tmpak2llvmy_mondo_relaxed.owl acids|acido|Saeuren|Saeure|acide|acid|Acid owl:Class MONDO:0024953 biolink:NamedThing lameness, non-human animal A departure from the normal gait in animals. tmpak2llvmy_mondo_relaxed.owl animal Lamenesses|Gait disorders, animal|animal Gait disorders|disorder, animal Gait|animal lameness|disorders, animal Gait|Gait disorder, animal|animal Gait disorder|Lamenesses, animal MESH:D007794 owl:Class MONDO:0001931 biolink:NamedThing pericholangitis Inflammation of the tissue surrounding the biliary ducts. tmpak2llvmy_mondo_relaxed.owl SCTID:111373008|UMLS:C0031052|NCIT:C34916|DOID:14272 owl:Class FOODON:03411335 biolink:NamedThing crab Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab] tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001785 biolink:NamedThing crab food product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011627 biolink:NamedThing autism, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl phrase speech delay, autism-related|autism, susceptibility to, 5|autism-related speech delay|AUTS5 UMLS:C1853755|OMIM:606053 owl:Class HGNC:11040 biolink:NamedThing SLC5A5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000325 biolink:NamedThing gastric gland The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0120189 biolink:NamedThing positive regulation of bile acid secretion Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18040 biolink:NamedThing ARID1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001678 biolink:NamedThing intestinal tuberculosis A tuberculosis that involves the intestine. tmpak2llvmy_mondo_relaxed.owl intestine tuberculosis|tuberculosis of intestine UMLS:C0275911|DOID:13282|ICD9:014.8|ICD9:014.80|SCTID:60136008 owl:Class HGNC:20278 biolink:NamedThing NUBPL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013419 biolink:NamedThing complement component C1s deficiency A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. tmpak2llvmy_mondo_relaxed.owl C1s deficiency|complement component C1s deficiency|C1SD MESH:C565170|UMLS:C3151078|OMIM:613783 owl:Class MONDO:0017972 biolink:NamedThing classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpak2llvmy_mondo_relaxed.owl classic CLAH Orphanet:325524|ICD10:E25.0 owl:Class MONDO:0018216 biolink:NamedThing 17q21.31 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl Del(17)(q21.31)|monosomy 17q21.31 Orphanet:363958|UMLS:CN204740|ICD10:Q93.5 owl:Class MONDO:0003860 biolink:NamedThing cerebellopontine angle meningioma A meningioma that affects the cerebellopontine angle. tmpak2llvmy_mondo_relaxed.owl meningioma of the cerebellopontine angle|meningioma of the C-P angle|meningioma of the cerebellar Pontine angle|cerebellar Pontine angle meningioma|C-P angle meningioma|meningioma (disease) of cerebellopontine angle|meningioma of cerebellar Pontine angle|cerebellopontine angle meningioma (disease)|meningioma of C-P angle|meningioma of cerebellopontine angle UMLS:C1263882|DOID:6337|NCIT:C5300|SCTID:126948004 owl:Class MONDO:0019930 biolink:NamedThing Leydig cell hypoplasia due to complete LH resistance tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete LH receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete LH resistance|Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY DSD due to complete LH receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance UMLS:CN206847|Orphanet:96265|ICD10:Q56.1 owl:Class MONDO:0030006 biolink:NamedThing combined oxidative phosphorylation deficiency 40 tmpak2llvmy_mondo_relaxed.owl COXPD40|combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 OMIM:618835|Orphanet:570491 owl:Class CL:0002258 biolink:NamedThing thyroid follicular cell A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. tmpak2llvmy_mondo_relaxed.owl follicular cell of thyroid gland|thyroid gland follicular cell|principal cell of thyroid gland FMA:68782|CALOHA:TS-1285|BTO:0003736 tmeehan 2010-09-08T01:50:08Z cell owl:Class UBERON:0011976 biolink:NamedThing epiphysis of distal phalanx of pes An epiphysis that is part of a distal phalanx of pes. tmpak2llvmy_mondo_relaxed.owl epiphysis of distal phalanx of toe owl:Class MONDO:0018022 biolink:NamedThing hemoglobin Lepore-beta-thalassemia syndrome tmpak2llvmy_mondo_relaxed.owl HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome UMLS:CN227251|Orphanet:330032|ICD10:D56.8 owl:Class HP:0001883 biolink:NamedThing Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. tmpak2llvmy_mondo_relaxed.owl Talipes foot deformities MSH:D000070558|UMLS:C3552713|UMLS:C1301937|SNOMEDCT_US:398309008 Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. human_phenotype owl:Class MONDO:0030708 biolink:NamedThing Trichomonas cervicitis An cervicitis (disease) caused by infection with Trichomonas vaginalis. tmpak2llvmy_mondo_relaxed.owl Trichomonas vaginalis caused cervicitis (disease)|Trichomonas vaginalis cervicitis (disease)|Trichomonas cervicitis NCIT:C35588 owl:Class MONDO:0040654 biolink:NamedThing autosomal dominant oculocutaneous albinism Autosomal dominant form of oculocutaneous albinism. tmpak2llvmy_mondo_relaxed.owl autosomal dominant oculocutaneous albinism|oculocutaneous albinism, autosomal dominant SCTID:79417003 owl:Class MONDO:0021133 biolink:NamedThing acquired factor XIII deficiency An acquired coagulation disorder due to reduced levels and activity of factor XIII. tmpak2llvmy_mondo_relaxed.owl acquired factor XIII deficiency NCIT:C131629|UMLS:C0238120 owl:Class MONDO:0043358 biolink:NamedThing engraftment syndrome A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. tmpak2llvmy_mondo_relaxed.owl engraftment syndrome GARD:0011909|NCIT:C63324|UMLS:C0919746|SCTID:426768001 owl:Class MONDO:0004271 biolink:NamedThing pregnancy adenoma A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. tmpak2llvmy_mondo_relaxed.owl Lactating adenoma|Lactating adenoma (morphologic abnormality) UMLS:C1266023|NCIT:C9473|ICDO:8204/0|DOID:7539 owl:Class MONDO:0020837 biolink:NamedThing oocyte maturation defect 5 tmpak2llvmy_mondo_relaxed.owl oocyte maturation defect 5|OOMD5 OMIM:617996 owl:Class MONDO:0011499 biolink:NamedThing Okamoto syndrome Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. tmpak2llvmy_mondo_relaxed.owl hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation GARD:0004064|Orphanet:2729|SCTID:722065002|ICD10:Q87.8|MESH:C565736|UMLS:C1858043|OMIM:604916 https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome owl:Class UBERON:0013703 biolink:NamedThing integumentary projection Anatomical projection that is part of the integumentl system. tmpak2llvmy_mondo_relaxed.owl skin projection owl:Class MONDO:0005255 biolink:NamedThing mild heart failure Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity. tmpak2llvmy_mondo_relaxed.owl Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003147 owl:Class MONDO:0100028 biolink:NamedThing immune epilepsy Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy. tmpak2llvmy_mondo_relaxed.owl 2018-06-23 00:11:14+00:00 owl:Class MONDO:0016480 biolink:NamedThing silver-Russell syndrome due to an imprinting defect of 11p15 tmpak2llvmy_mondo_relaxed.owl Silver-Russell syndrome due to an imprinting defect of type 11p15 UMLS:CN201475|Orphanet:231140|ICD10:Q87.1 owl:Class UBERON:0001383 biolink:NamedThing muscle of leg A muscle that is part of the region of the hindlimb between the pelvis and ankle. tmpak2llvmy_mondo_relaxed.owl muscle of thigh or crus|leg skeletal muscle|leg muscle|muscle of upper/lower leg|muscle organ of leg|leg muscle organ|skeletal muscle of leg|leg skeletal muscle tissue|muscle of upper or lower hindlimb segment|muscle of hindlimb zeugopod or stylopod owl:Class HGNC:5028 biolink:NamedThing HNMT tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:548681 biolink:NamedThing Herpesvirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0032368 biolink:NamedThing Acidemia An abnormally low blood pH (usually defined as less than 7.35). tmpak2llvmy_mondo_relaxed.owl 2019-02-23 18:37:21+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter human_phenotype owl:Class PR:000001865 biolink:NamedThing interleukin-3 receptor class 2 alpha chain tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019322 biolink:NamedThing pemphigus vegetans tmpak2llvmy_mondo_relaxed.owl EFO:0008613|MedDRA:10057053|SCTID:81285006|Orphanet:79479|UMLS:C0263316|UMLS:CN205981|ICD10:L10.1 owl:Class MONDO:0007996 biolink:NamedThing microphthalmia, isolated, with corectopia tmpak2llvmy_mondo_relaxed.owl microphthalmia, isolated, with corectopia|MCOPCR|microphthalmia and corectopia|microphthalmia with myopia and corectopia OMIM:156900|UMLS:C1834918|MESH:C563581 owl:Class CHEBI:73216 biolink:NamedThing EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*). tmpak2llvmy_mondo_relaxed.owl acid anhydride hydrolase inhibitors|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.*.* inhibitors|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.* inhibitor|EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|EC 3.6.* inhibitors|EC 3.6 inhibitor|acid anhydride hydrolase inhibitor|EC 3.6.*.* inhibitor|EC 3.6 inhibitors owl:Class CL:1000310 biolink:NamedThing adipocyte of epicardial fat of right ventricle A fat cell that is part of the epicardial fat of right ventricle. tmpak2llvmy_mondo_relaxed.owl epicardial fat cell of right ventricle|epicardial adipocyte of right ventricle FMA:261297 cell owl:Class GO:0097384 biolink:NamedThing cellular lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells. tmpak2llvmy_mondo_relaxed.owl cellular lipid formation|cellular lipid biosynthesis|cellular lipid synthesis|cellular lipid anabolism owl:Class UBERON:0003845 biolink:NamedThing lower eyelid epithelium An epithelium that is part of a lower eyelid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl epithelial tissue of lower eyelid|epithelium of inferior eyelid|lower eyelid epithelial tissue|inferior eyelid epithelial tissue|inferior eyelid epithelium|epithelium of lower eyelid|epithelial tissue of inferior eyelid owl:Class MONDO:0018122 biolink:NamedThing digital anomalies-intellectual disability-short stature syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204494|Orphanet:352487|ICD10:Q87.2 owl:Class GO:0055076 biolink:NamedThing transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001775 biolink:NamedThing chronic duodenal ileus tmpak2llvmy_mondo_relaxed.owl ICD10:K31.5|DOID:13687|UMLS:C0156087|ICD9:537.2|SCTID:52232007 owl:Class MONDO:0010970 biolink:NamedThing cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies tmpak2llvmy_mondo_relaxed.owl cleft palate, Cardiac defects, and intellectual disability|cleft palate, Cardiac defects, and mental retardation|cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, CARDIAC defects, and intellectual disability|CPCMR|cleft palate, CARDIAC defects, and mental retardation MESH:C563414|DOID:0111697|OMIM:600987|UMLS:C1832950 owl:Class MONDO:0009793 biolink:NamedThing orofaciodigital syndrome III Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. tmpak2llvmy_mondo_relaxed.owl OFD syndrome 3|orofaciodigital syndrome III|orofaciodigital syndrome type III|OFD3|oral facial digital syndrome 3|Ofds 3|orofaciodigital syndrome 3|orofaciodigital syndrome type 3|oral facial digital syndrome type 3|Sugarman syndrome|oral-facial-digital syndrome type 3|oral-Facial-digital syndrome, type 3 MESH:C557817|Orphanet:2752|DOID:0060373|OMIM:258850|ICD10:Q87.0|SCTID:239030004|GARD:0010518 https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 owl:Class MONDO:0032684 biolink:NamedThing intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency tmpak2llvmy_mondo_relaxed.owl IMAGEI|Imagei Syndrome|INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY OMIM:618336 owl:Class UBERON:0016549 biolink:NamedThing central nervous system white matter layer A layer of of the central nervous system that is composed of white matter. tmpak2llvmy_mondo_relaxed.owl CNS white matter layer|white matter layer of neuraxis|white matter layer owl:Class MONDO:0030926 biolink:NamedThing spermatogenic failure 51 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 51|SPGF51 OMIM:619177 owl:Class MONDO:0002578 biolink:NamedThing botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl botryoid sarcoma|botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma (morphologic abnormality)|sarcoma botryoides DOID:3255|UMLS:C1306573|NCIT:C9150|UMLS:C1306574|ICD9:171.9|SCTID:404052009|GARD:0009398 owl:Class MONDO:0009944 biolink:NamedThing pyloric atresia tmpak2llvmy_mondo_relaxed.owl pyloric atresia MESH:C562561|OMIM:265950|SCTID:27729002|ICD9:750.7 owl:Class UBERON:0004223 biolink:NamedThing vagina smooth muscle A portion of smooth muscle tissue that is part of a vagina [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle tissue of vagina|non-striated muscle of vagina|vagina non-striated muscle|vagina smooth muscle tissue|smooth muscle of vagina|involuntary muscle of vagina|vaginal smooth muscle|vagina smooth muscle|vagina involuntary muscle owl:Class MONDO:0022909 biolink:NamedThing cutis laxa osteoporosis tmpak2llvmy_mondo_relaxed.owl GARD:0001637 https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis owl:Class MONDO:0009074 biolink:NamedThing facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY MESH:C535985|Orphanet:1970|ICD10:Q87.8|OMIM:220219|UMLS:C1857352 owl:Class MONDO:0008705 biolink:NamedThing lysosomal acid phosphatase deficiency tmpak2llvmy_mondo_relaxed.owl acid phosphatase deficiency|lysosomal acid phosphatase deficiency SCTID:57863006|UMLS:C0268410|OMIM:200950|ICD9:277.6|MESH:C562645|Orphanet:35121|ICD10:E83.3 owl:Class HGNC:1245 biolink:NamedThing C1QC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100322 biolink:NamedThing non-Zellweger spectrum disorder A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7. tmpak2llvmy_mondo_relaxed.owl non-Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0036422 biolink:NamedThing wall of pulmonary artery tmpak2llvmy_mondo_relaxed.owl pulmonary arterial wall owl:Class NCBITaxon:194440 biolink:NamedThing Primate T-lymphotropic virus 1 tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:153136 biolink:NamedThing Deltaretrovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0012477 biolink:NamedThing dorsal part of neck The posterior region of the neck, including the suboccipital region. tmpak2llvmy_mondo_relaxed.owl hindneck|nape|posterior cervical region|nucha|regio cervicalis posterior|posterior neck region|neck back|posterior part of neck|nuchal region|back of neck|nape of neck owl:Class HP:0000036 biolink:NamedThing Abnormal penis morphology Abnormality of the male external sex organ. tmpak2llvmy_mondo_relaxed.owl Abnormality of the penis UMLS:C4025896 human_phenotype owl:Class HGNC:6595 biolink:NamedThing LHX3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002987 biolink:NamedThing spongiotic dermatitis A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. tmpak2llvmy_mondo_relaxed.owl SCTID:23615008|UMLS:C0262984|ICD9:692.9|NCIT:C27037|DOID:4406|EFO:1000768 owl:Class MONDO:0022892 biolink:NamedThing craniosynostosis alopecia brain defect tmpak2llvmy_mondo_relaxed.owl GARD:0001586 https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect owl:Class MONDO:0011990 biolink:NamedThing seizures, benign familial neonatal, 3 tmpak2llvmy_mondo_relaxed.owl BFNS3|seizures, benign familial neonatal, 3|convulsions, benign familial neonatal, 3 UMLS:C1842382|MESH:C564274|OMIM:608217 owl:Class MONDO:0043075 biolink:NamedThing neuroaxonal dystrophy renal tubular acidosis tmpak2llvmy_mondo_relaxed.owl Maccario Mena weir syndrome|CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr GARD:0000349|MESH:C537386|UMLS:C2931479 owl:Class MONDO:0012389 biolink:NamedThing myopia 12, autosomal dominant tmpak2llvmy_mondo_relaxed.owl myopia 12, autosomal dominant|MYP12 MESH:C566489|OMIM:609995|UMLS:C1864940 owl:Class MONDO:0044917 biolink:NamedThing T-lymphoblastic lymphoma The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl Precur. T-lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|T-lymphoblastic lymphoma|precursor T-lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma|T Lymphoblastic lymphoma EFO:1001830|SCTID:421246008|NCIT:C6919 owl:Class MONDO:0000873 biolink:NamedThing lymphoblastic lymphoma A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. tmpak2llvmy_mondo_relaxed.owl precursor cell lymphoblastic lymphoma|lymphoblastic lymphoma|lymphoma, lymphoblastic|lymphoma, lymphoblastic, malignant|precursor lymphoblastic lymphoma ICD9:202.80|DOID:0080147|ICDO:9727/3|NCIT:C9360|GARD:0003329|UMLS:C0079748|SCTID:109965004 https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma owl:Class MONDO:0016048 biolink:NamedThing isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. tmpak2llvmy_mondo_relaxed.owl UMLS:CN200728|Orphanet:199326|ICD10:E83.4|SCTID:722008003 owl:Class MONDO:0015084 biolink:NamedThing FRAXF syndrome FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. tmpak2llvmy_mondo_relaxed.owl Orphanet:100974|UMLS:C4274329|UMLS:CN197382|SCTID:716708005 owl:Class MONDO:0012444 biolink:NamedThing neurodegeneration with brain iron accumulation 2B tmpak2llvmy_mondo_relaxed.owl NBIA2b|neurodegeneration with brain iron accumulation type 2B|Karak syndrome|atypical neuroaxonal dystrophy|NBIA2B|neurodegeneration with brain iron accumulation type 2b|neurodegeneration with brain iron accumulation, Pla2G6-related|neurodegeneration with brain iron accumulation 2B|neuroaxonal dystrophy, atypical|neurodegeneration with brain iron accumulation, Pla2g6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline ICD10:G23.0|OMIM:610217|DOID:0110736|GARD:0010688 NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset. owl:Class CHEBI:33405 biolink:NamedThing hydracid A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpak2llvmy_mondo_relaxed.owl hydracids|hydracid owl:Class CL:0000126 biolink:NamedThing macroglial cell A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. tmpak2llvmy_mondo_relaxed.owl macrogliocyte FMA:54538|BTO:0000771|CALOHA:TS-2027 cell owl:Class MONDO:0011274 biolink:NamedThing Muenke syndrome Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. tmpak2llvmy_mondo_relaxed.owl Muenke nonsyndromic coronal craniosynostosis|MNKES|FGFR3-related craniosynostosis|Muenke syndrome|syndrome of coronal craniosynostosis SCTID:440350001|NCIT:C84904|MESH:C537369|OMIM:602849|ICD10:Q87.0|Orphanet:53271|DOID:0060703|GARD:0007097|UMLS:C1864436 https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome owl:Class HGNC:3023 biolink:NamedThing DRD2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001668 biolink:NamedThing cerebellar vein A vein that drains the cerebellum. tmpak2llvmy_mondo_relaxed.owl vein of cerebellum|vein of epencephalon-1|epencephalon-1 vein|cerebellum vein owl:Class MONDO:0013130 biolink:NamedThing isolated microphthalmia 4 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. tmpak2llvmy_mondo_relaxed.owl MCOP4|microphthalmia, isolated type 4|isolated microphthalmia caused by mutation in GDF6|GDF6 isolated microphthalmia|isolated microphthalmia type 4|microphthalmia, isolated 4 UMLS:C2751307|OMIM:613094|DOID:0060836|MESH:C567757|ICD10:Q11.0 owl:Class MONDO:0010967 biolink:NamedThing autosomal recessive nonsyndromic deafness 7 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 11|autosomal recessive nonsyndromic deafness type 7|DFNB11|deafness, autosomal recessive type 7|autosomal recessive deafness 7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|autosomal recessive nonsyndromic deafness 7|DFNB7|TMC1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 7 UMLS:C1832978|DOID:0110520|OMIM:600974|ICD10:H90.3|MESH:C563417 owl:Class CHEBI:26820 biolink:NamedThing sulfates Salts and esters of sulfuric acid tmpak2llvmy_mondo_relaxed.owl sulfates|sulfuric acid derivative|sulphates owl:Class CHEBI:84410 biolink:NamedThing sphingoid base(1+) A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base. tmpak2llvmy_mondo_relaxed.owl 2-amino-1,3-dihydroxysphingoid base(1+)|a sphingoid base owl:Class SO:0001784 biolink:NamedThing complex_structural_alteration A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints. tmpak2llvmy_mondo_relaxed.owl complex chromosomal mutation|complex|complex_chromosomal_mutation owl:Class MONDO:0033630 biolink:NamedThing neurodevelopmental disorder with speech impairment and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl NEDSID OMIM:619056 owl:Class MONDO:0000749 biolink:NamedThing breast abscess A breast disease characterized by a collection of pus in the breast. tmpak2llvmy_mondo_relaxed.owl UMLS:C0151463|SCTID:28432003|DOID:0060323 owl:Class MONDO:0019652 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpak2llvmy_mondo_relaxed.owl ICD10:N04.3|Orphanet:93214|UMLS:CN206525 owl:Class UBERON:0008310 biolink:NamedThing nasopharyngeal gland A gland that is part of a nasopharynx. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001369 biolink:NamedThing chronic laryngitis Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. tmpak2llvmy_mondo_relaxed.owl laryngitis, chronic DOID:11797|NCIT:C26975|ICD9:476.0|UMLS:C0155836|SCTID:29951006|ICD10:J37.0 owl:Class MONDO:0008050 biolink:NamedThing MYH7-related skeletal myopathy Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. tmpak2llvmy_mondo_relaxed.owl Laing distal myopathy|myopathy, distal, type 1|distal myopathy type 1|MPD1|Laing early-onset distal myopathy|MYH7-related skeletal myopathy|myopathy, late distal hereditary|myopathy distal, type 1|myopathy, distal, 1|Gowers disease|myosin storage myopathy|myopathy, distal, early-onset, autosomal dominant SCTID:764859001|ICD10:G71.0|Orphanet:59135|UMLS:CN074249|GARD:0010769|DOID:0070197|OMIM:160500 owl:Class ECTO:4000029 biolink:NamedThing exposure to increased soil temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in temperature of soil owl:Class MONDO:0015228 biolink:NamedThing pentasomy X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). tmpak2llvmy_mondo_relaxed.owl XXXXX syndrome|poly-X|penta X syndrome|penta-X syndrome|penta-X|chromosome XXXXX syndrome|chromosome X pentasomy|49,XXXXX syndrome|Pentasomy X syndrome|49, XXXXX syndrome|Pentasomy type X UMLS:C0265497|ICD10:Q97.1|NCIT:C89802|SCTID:43248007|MESH:C535319|Orphanet:11|GARD:0005678 owl:Class MONDO:0019526 biolink:NamedThing erythema elevatum diutinum Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. tmpak2llvmy_mondo_relaxed.owl SCTID:58872001|DOID:0060567|UMLS:C0263398|MESH:C535509|Orphanet:90000|ICD10:L95.1|GARD:0008653|ICD9:695.89|MedDRA:10056968 https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum owl:Class MONDO:0015491 biolink:NamedThing immune complex mediated vasculitis tmpak2llvmy_mondo_relaxed.owl Orphanet:156149 owl:Class HGNC:4388 biolink:NamedThing GNAL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009434 biolink:NamedThing hypoproteinemia, hypercatabolic tmpak2llvmy_mondo_relaxed.owl hypoproteinemia, hypercatabolic|B2M deficiency|IMD43|immunodeficiency 43|Beta-2-microglobulin deficiency MESH:C565476|UMLS:C1855796|OMIM:241600 owl:Class IAO:8000017 biolink:NamedThing ontology module subsetted by expressivity tmpak2llvmy_mondo_relaxed.owl ontology module subsetted by expressivity owl:Class MONDO:0011838 biolink:NamedThing Bothnia retinal dystrophy A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. tmpak2llvmy_mondo_relaxed.owl VC$sterbotten dystrophy|Vasterbotten dystrophy|Bothnia retinal dystrophy|Västerbotten dystrophy SCTID:715647007|UMLS:C1843816|ICD10:H35.5|DOID:0050683|MESH:C564392|OMIM:607475|Orphanet:85128 owl:Class MONDO:0014239 biolink:NamedThing testicular anomalies with or without congenital heart disease tmpak2llvmy_mondo_relaxed.owl TACHD|testicular anomalies with or without congenital heart disease UMLS:C3809858|OMIM:615542 owl:Class MONDO:0015682 biolink:NamedThing primary peritoneal tumor tmpak2llvmy_mondo_relaxed.owl UMLS:CN200180|Orphanet:168803 owl:Class MONDO:0017968 biolink:NamedThing 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. tmpak2llvmy_mondo_relaxed.owl 46,XY ovotesticular DSD UMLS:CN227231|Orphanet:325345|SCTID:763683004 owl:Class NCBITaxon:1386 biolink:NamedThing Bacillus tmpak2llvmy_mondo_relaxed.owl Bacillus rRNA group 1|Bacillus PMID:23475340|PMID:8138135|PMID:1742196|PMID:2223602|PMID:7727277|PMID:11491334|GC_ID:11|PMID:10843090|PMID:8863420 ncbi_taxonomy owl:Class NCBITaxon:186817 biolink:NamedThing Bacillaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:29101 biolink:NamedThing ANKLE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000743 biolink:NamedThing oral hairy leukoplakia An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. tmpak2llvmy_mondo_relaxed.owl oral cavity hairy leukoplakia|hairy leukoplakia of the oral mucosa|hairy leukoplakia of the mouth|hairy leukoplakia of mouth|hairy leukoplakia of oral mucosa|mouth hairy leukoplakia|oral hairy keratosis|hairy leukoplakia ICD9:528.6|NCIT:C3722|DOID:0060315|SCTID:414952002|MESH:D017733|ICD10:K13.3|UMLS:C0206186 owl:Class MONDO:0002822 biolink:NamedThing trabecular adenocarcinoma A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. tmpak2llvmy_mondo_relaxed.owl trabecula adenocarcinoma|trabecular adenocarcinoma (morphologic abnormality)|Merkel cell carcinoma|trabecular carcinoma|trabecular adenocarcinoma NCIT:C4068|ICDO:8190/3|DOID:3965|ICDO:8332/3|UMLS:C0302182 owl:Class HGNC:7693 biolink:NamedThing NDUFA9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013648 biolink:NamedThing familial progressive hyperpigmentation Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. tmpak2llvmy_mondo_relaxed.owl universal melanosis|Fph|FPH1|hyperpigmentation, familial progressive, 1|melanosis diffusa congenita|melanosis universalis hereditaria UMLS:CN205811|UMLS:C1840392|Orphanet:79146|OMIM:614233|SCTID:715630006|ICD10:L81.4 owl:Class HP:0031481 biolink:NamedThing Abnormal mitral valve physiology Any functional anomaly of the mitral valve. tmpak2llvmy_mondo_relaxed.owl 2017-09-17 22:37:40+00:00 peter human_phenotype owl:Class HGNC:29277 biolink:NamedThing ZNF687 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016384 biolink:NamedThing hypogonadotropic hypogonadism-frontoparietal alopecia syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. tmpak2llvmy_mondo_relaxed.owl Salti-Salem syndrome UMLS:CN201280|ICD10:E23.0|SCTID:721842008|Orphanet:2230 owl:Class CL:1001610 biolink:NamedThing bone marrow hematopoietic cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. tmpak2llvmy_mondo_relaxed.owl bone marrow poietic cells|bone marrow hematopoietic cells CALOHA:TS-2109 owl:Class MONDO:0019017 biolink:NamedThing short fifth metacarpals-insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Orphanet:66518|ICD10:E13|UMLS:CN205478 owl:Class NCBITaxon:71275 biolink:NamedThing rosids tmpak2llvmy_mondo_relaxed.owl Rosidae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003568 biolink:NamedThing disorder of optic chiasm A disease that involves the optic chiasma. tmpak2llvmy_mondo_relaxed.owl disease of optic chiasma|chiasma syndrome|disorder of optic chiasma|disease or disorder of optic chiasma|disorder of optic chiasm|chiasmal syndrome|optic chiasma disease|optic chiasma disease or disorder DOID:5655|ICD9:377.63|ICD9:377.5|SCTID:70476006|UMLS:C0155307|ICD10:H47.4 owl:Class MONDO:0032920 biolink:NamedThing juvenile arthritis due to defect in LACC1 tmpak2llvmy_mondo_relaxed.owl JUVENILE ARTHRITIS|JUVAR OMIM:618795 owl:Class MONDO:0003258 biolink:NamedThing hobnail hemangioma A hemangioma characterized by the presence of hobnail endothelial cells. tmpak2llvmy_mondo_relaxed.owl hobnail hemangioma|Targetoid Hemosiderotic hemangioma UMLS:C0346076|DOID:505|NCIT:C27506|SCTID:254790003 owl:Class CL:0000822 biolink:NamedThing B-2 B cell A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative. tmpak2llvmy_mondo_relaxed.owl B2 B-cell|B-2 B lymphocyte|B2 B-lymphocyte|B2 B lymphocyte|B-2 B-lymphocyte|B-2 B-cell|B-0 B cell|B2 cell|B2 B cell B-2 B cells are reportedly CD48-positive, CD244-negative, and CD352-positive. cell owl:Class MONDO:0100221 biolink:NamedThing IFAP syndrome 2 tmpak2llvmy_mondo_relaxed.owl IFAP SYNDROME 2|ichthyosis follicularis, atrichia, and photophobia syndrome 2|IFAP2 OMIM:619016 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0002574 biolink:NamedThing thrombocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:35493 biolink:NamedThing Streptophyta tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003810 biolink:NamedThing bladder diffuse clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. tmpak2llvmy_mondo_relaxed.owl bladder diffuse clear cell adenocarcinoma DOID:6210|NCIT:C39849|UMLS:C1511187 owl:Class MONDO:0013672 biolink:NamedThing chromosome 15q25 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 15q25 deletion syndrome UMLS:C3280355|OMIM:614294|DOID:0060396 owl:Class MONDO:0018567 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation tmpak2llvmy_mondo_relaxed.owl CMT2 due to TFG mutation Orphanet:435819|UMLS:CN237576|ICD10:G60.0 owl:Class GO:1901699 biolink:NamedThing cellular response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpak2llvmy_mondo_relaxed.owl cellular response to nitrogen molecular entity owl:Class MONDO:0019395 biolink:NamedThing Hinman syndrome Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. tmpak2llvmy_mondo_relaxed.owl occult neuropathic bladder|HAS|HS|non-neurogenic neurogenic bladder|Hinman-Allen syndrome UMLS:CN206094|SCTID:429233001|ICD10:N32.8|ICD9:596.59|Orphanet:84085|UMLS:C1997362 owl:Class MONDO:0018605 biolink:NamedThing disorders of pentose/polyol metabolism tmpak2llvmy_mondo_relaxed.owl UMLS:CN237637|Orphanet:440701 owl:Class MONDO:0013703 biolink:NamedThing intellectual disability, autosomal recessive 33 tmpak2llvmy_mondo_relaxed.owl MRT33|intellectual disability, autosomal recessive 33|mental retardation, autosomal recessive 33 UMLS:C3280539|OMIM:614341 owl:Class MONDO:0030878 biolink:NamedThing Kaya-Barakat-Masson syndrome tmpak2llvmy_mondo_relaxed.owl KABAMAS OMIM:619125 owl:Class MONDO:0015037 biolink:NamedThing lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. tmpak2llvmy_mondo_relaxed.owl Orphanet:100014|SCTID:715821000|UMLS:CN228903|ICD10:Q04.3|UMLS:C4274991 owl:Class MONDO:0002935 biolink:NamedThing penis basal cell carcinoma A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. tmpak2llvmy_mondo_relaxed.owl skin of penis skin basal cell carcinoma|penile basal cell cancer|penis skin basal cell carcinoma|basal cell carcinoma of the penis|penile basal cell carcinoma|skin basal cell carcinoma of penis DOID:4277|NCIT:C39961|UMLS:C1518949 owl:Class MONDO:0005052 biolink:NamedThing irritable bowel syndrome Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). tmpak2llvmy_mondo_relaxed.owl IBS|spastic colon|irritable colon|psychogenic IBS|mucus colitis|IBD|irritable bowel syndrome EFO:0000555|SCTID:10743008|ICD9:564.1|MESH:D043183|UMLS:C0022104|ICD10:K58|NCIT:C82343|ICD10:K58.9|DOID:9778 Editor note: consider merging with MONDO:0005265 owl:Class MONDO:0015371 biolink:NamedThing linear atrophoderma of Moulin Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. tmpak2llvmy_mondo_relaxed.owl SCTID:403395007|UMLS:C1274753|ICD10:L90.8|Orphanet:140933 owl:Class FOODON:03510136 biolink:NamedThing food consumer group A food consumer group is a class of organism based on their heterotrophic requirements or preferences. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004521 biolink:NamedThing vasculature of muscle organ A vasculature that is part of a muscle organ [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscular organ vasculature owl:Class UBERON:0004522 biolink:NamedThing vasculature of musculoskeletal system A vasculature that is part of a musculoskeletal system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005253 biolink:NamedThing high output heart failure High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal. tmpak2llvmy_mondo_relaxed.owl UMLS:C0221045|SCTID:10091002|Wikipedia:High-output_cardiac_failure|EFO:0003145 owl:Class MONDO:0023006 biolink:NamedThing doxorubicin induced cardiomyopathy tmpak2llvmy_mondo_relaxed.owl GARD:0006285 https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy owl:Class MONDO:0010047 biolink:NamedThing hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia|spastic paraplegia 5A|spastic paraplegia type 5A|autosomal recessive spastic paraplegia type 5A|SPG5A|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia 5A, autosomal recessive|spastic paraplegia type 5B, recessive|hereditary spastic paraplegia type 5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia 5A Orphanet:100986|SCTID:763373005|UMLS:C1849115|DOID:0110810|GARD:0004926|ICD10:G11.4|OMIM:270800|UMLS:C2931357 OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. owl:Class GO:0043413 biolink:NamedThing macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013136 biolink:NamedThing hereditary hypotrichosis with recurrent skin vesicles Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. tmpak2llvmy_mondo_relaxed.owl hereditary hypotrichosis with recurrent skin vesicles|hypotrichosis and recurrent skin vesicles OMIM:613102|UMLS:C2751292|SCTID:724350009|Orphanet:217407|MESH:C567751 owl:Class UBERON:0005217 biolink:NamedThing midbrain subarachnoid space A subarachnoid space that is part of a midbrain [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl subarachnoid space midbrain|subarachnoid space mesencephalon owl:Class HGNC:20373 biolink:NamedThing SPG21 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051354 biolink:NamedThing negative regulation of oxidoreductase activity Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpak2llvmy_mondo_relaxed.owl down-regulation of oxidoreductase activity|inhibition of oxidoreductase activity|oxidoreductase inhibitor|down regulation of oxidoreductase activity|downregulation of oxidoreductase activity owl:Class MONDO:0009019 biolink:NamedThing congenital hereditary endothelial dystrophy of cornea Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. tmpak2llvmy_mondo_relaxed.owl infantile hereditary endothelial dystrophy|congenital hereditary endothelial dystrophy of cornea|corneal endothelial dystrophy 2, autosomal recessive, formerly|autosomal recessive CHED|corneal endothelial dystrophy|corneal endothelial dystrophy type 2|CHED|congenital hereditary endothelial dystrophy of the cornea|autosomal recessive congenital hereditary endothelial dystrophy|corneal endothelial dystrophy 2, autosomal recessive|CHED2|corneal dystrophy, congenital hereditary endothelial|congenital hereditary endothelial dystrophy type 2|CHED2, formerly|CHEDII|Maumenee corneal dystrophy|congenital hereditary endothelial dystrophy type II|corneal endothelial dystrophy 2 ICD10:H18.5|Orphanet:293603|MESH:C536439|OMIM:217700|GARD:0006196|DOID:0060649 https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 owl:Class MONDO:0008038 biolink:NamedThing ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. tmpak2llvmy_mondo_relaxed.owl ATXPC|myelocerebellar disorder|ataxia-pancytopenia syndrome SCTID:768556005|OMIM:159550|GARD:0003865|MESH:C563233|UMLS:C1327919|Orphanet:2585|ICD10:D61.0 owl:Class MONDO:0017917 biolink:NamedThing maternally-inherited spastic paraplegia A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. tmpak2llvmy_mondo_relaxed.owl MT-ATP6-related mitochondrial spastic paraplegia|maternally-inherited SPG ICD10:G11.4|Orphanet:320360 owl:Class HP:0030976 biolink:NamedThing Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpak2llvmy_mondo_relaxed.owl 2017-05-10 22:59:20+00:00 robinp human_phenotype owl:Class MONDO:0006693 biolink:NamedThing cerebral arterial disease Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. tmpak2llvmy_mondo_relaxed.owl EFO:1000859|MESH:D002539|UMLS:C0007774|DOID:3527 owl:Class MONDO:0006808 biolink:NamedThing intracranial arterial disease Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. tmpak2llvmy_mondo_relaxed.owl EFO:1000990|MESH:D020765|UMLS:C0752138|DOID:13089 owl:Class HGNC:17168 biolink:NamedThing RAB3GAP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012083 biolink:NamedThing autosomal dominant nonsyndromic deafness 28 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant type 28|DFNA28|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2|GRHL2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 28|autosomal dominant nonsyndromic deafness type 28|deafness, autosomal dominant 28 UMLS:C1837640|OMIM:608641|DOID:0110557|MESH:C563890|ICD10:H90.3 owl:Class MONDO:0007425 biolink:NamedThing deafness, sensorineural, with peripheral neuropathy and arterial disease tmpak2llvmy_mondo_relaxed.owl deafness, sensorineural, with peripheral neuropathy and arterial disease OMIM:124950|UMLS:C1852280|MESH:C565120 owl:Class MONDO:0013234 biolink:NamedThing hypokalemic periodic paralysis, type 2 tmpak2llvmy_mondo_relaxed.owl hypokalemic periodic paralysis, type 2|HOKPP2 OMIM:613345|MESH:C567635|UMLS:C2750061 owl:Class MONDO:0013833 biolink:NamedThing keratoconus 7 tmpak2llvmy_mondo_relaxed.owl KTCN7|keratoconus 7 UMLS:C3553308|OMIM:614629 owl:Class MONDO:0032864 biolink:NamedThing intellectual developmental disorder with speech delay, autism, and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES|IDDSADF OMIM:618672 owl:Class MONDO:0014991 biolink:NamedThing Seckel syndrome 10 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. tmpak2llvmy_mondo_relaxed.owl SCKL10|Seckel syndrome type 10|Seckel syndrome 10|NSMCE2 Seckel syndrome|Seckel syndrome caused by mutation in NSMCE2 UMLS:C4310647|OMIM:617253|DOID:0070008 owl:Class MONDO:0010739 biolink:NamedThing Taqi polymorphism tmpak2llvmy_mondo_relaxed.owl Taqi polymorphism|TaqI polymorphism|TAQ1 OMIM:313480 owl:Class GO:0014057 biolink:NamedThing positive regulation of acetylcholine secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine. tmpak2llvmy_mondo_relaxed.owl activation of acetylcholine secretion|up-regulation of acetylcholine secretion|stimulation of acetylcholine secretion|up regulation of acetylcholine secretion|upregulation of acetylcholine secretion owl:Class HGNC:18243 biolink:NamedThing RCBTB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012246 biolink:NamedThing spinocerebellar ataxia type 26 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 26|spinocerebellar ataxia type 26|SCA26 DOID:0050975|UMLS:C1836395|SCTID:718769009|ICD10:G11.2|OMIM:609306|GARD:0009995|Orphanet:101112|MESH:C537203 owl:Class MONDO:0001974 biolink:NamedThing hemangioma of orbit A hemangioma arising from the orbit. tmpak2llvmy_mondo_relaxed.owl orbit hemangioma|orbit angioma|angioma of orbit|hemangioma of the orbit|angioma of the orbit NCIT:C6245|UMLS:C1335128|DOID:14459|ICD9:228.09|SCTID:121951000119101 owl:Class MONDO:0004864 biolink:NamedThing acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. tmpak2llvmy_mondo_relaxed.owl DOID:9735|SCTID:8326008|UMLS:C0155419|ICD9:381.05 owl:Class MONDO:0004865 biolink:NamedThing blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. tmpak2llvmy_mondo_relaxed.owl acute non-suppurative otitis media - mucoid|blue drum syndrome|acute mucoid otitis media SCTID:52353000|ICD9:381.02|DOID:9736|UMLS:C0395863 owl:Class MONDO:0100192 biolink:NamedThing liver failure A liver disease characterized by the liver losing or has lost all of its function. tmpak2llvmy_mondo_relaxed.owl hepatic failure NCIT:C26922 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0022316 biolink:NamedThing hair defect with photosensitivity and intellectual disability syndrome Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl hair defect with photosensitivity and intellectual disability syndrome SCTID:721007005 owl:Class MONDO:0024569 biolink:NamedThing optic atrophy 8 tmpak2llvmy_mondo_relaxed.owl OPA8|optic atrophy 8 OMIM:616648|DOID:0111439 owl:Class MONDO:0013367 biolink:NamedThing long QT syndrome 2 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpak2llvmy_mondo_relaxed.owl LQT2|long QT syndrome 2/5, digenic|long QT syndrome type 2|long QT syndrome 1/2, digenic|long QT syndrome 2/3, digenic|long QT syndrome 2|long QT syndrome 2/9, digenic|long QT syndrome 2, acquired, susceptibility to OMIM:613688|MESH:C563614|NCIT:C137957|ICD10:I45.8|DOID:0110645|GARD:0003285|UMLS:C3150943|HGNC:6251 https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 owl:Class UBERON:0016551 biolink:NamedThing subdivision of spinal cord ventral column tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100716 biolink:NamedThing Self-injurious behavior Aggression towards oneself. tmpak2llvmy_mondo_relaxed.owl Self-injurious behaviors|Autoagression|Self-harm|Self injury|Self-injurious behaviours|Self-injurious behavior|Self-injurious behaviour SNOMEDCT_US:248062006|MSH:D016728|UMLS:C0085271 doelkens 2011-05-16T06:47:54Z human_phenotype owl:Class HP:0006919 biolink:NamedThing Abnormal aggressive, impulsive or violent behavior tmpak2llvmy_mondo_relaxed.owl Aggressive/violent behavior|Aggressive/violent behaviour|Abnormal aggressive, impulsive or violent behaviour UMLS:C4024963 human_phenotype owl:Class HGNC:28596 biolink:NamedThing B3GALNT2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015152 biolink:NamedThing gland of ocular region A gland that is typically found in or near the orbital region, in or around either the medial or lateral canthi, and is typically associated with secretions onto the eyeball or associated ducts. Includes the Harderian, nictitans and lacrimal glands. tmpak2llvmy_mondo_relaxed.owl ocular gland|orbital gland owl:Class MONDO:0008836 biolink:NamedThing ataxia with myoclonic epilepsy and presenile dementia tmpak2llvmy_mondo_relaxed.owl ataxia with myoclonic epilepsy and presenile dementia OMIM:208700|MESH:C565933|UMLS:C1859646 owl:Class MONDO:0002342 biolink:NamedThing chondromalacia Pathological processes involving the chondral tissue (cartilage). tmpak2llvmy_mondo_relaxed.owl ICD10:M94.20|ICD10:M94.2|SCTID:63198006|UMLS:C0085700|DOID:2557|ICD9:733.92 owl:Class MONDO:0008980 biolink:NamedThing ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|Boucher-Neuhchäuser syndrome|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|ataxia - hypogonadism - choroidal dystrophy|Boucher-Neuhäuser syndrome|BNHS|Boucher-Neuhauser syndrome Orphanet:1180|DOID:0111265|UMLS:C1859093|MESH:C565850|OMIM:215470|SCTID:715984007|GARD:0000944|ICD10:G11.8 owl:Class MONDO:0017725 biolink:NamedThing Tay-Sachs disease, b variant, juvenile form tmpak2llvmy_mondo_relaxed.owl hexosaminidase A deficiency, juvenile form|GM2 gangliosidosis, B variant, juvenile form Orphanet:309185|ICD10:E75.0|UMLS:CN203621 owl:Class MONDO:0014395 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 2 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. tmpak2llvmy_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2 UMLS:C4014648|OMIM:615911|DOID:0060214 owl:Class MONDO:0015393 biolink:NamedThing nasal ganglioglioma Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. tmpak2llvmy_mondo_relaxed.owl Orphanet:141115 owl:Class HGNC:1856 biolink:NamedThing CENPE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0060666 biolink:NamedThing hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome tmpak2llvmy_mondo_relaxed.owl HADDTS|hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM:617915|UMLS:CN895589 owl:Class MONDO:0017945 biolink:NamedThing ABetaL34V amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. tmpak2llvmy_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Piedmont type|HCHWA, Piedmont type|ABeta amyloidosis, Piedmont type|ABetaL34V-related amyloidosis Orphanet:324703|ICD10:E85.4+|ICD10:I68.0* owl:Class MONDO:0005757 biolink:NamedThing eumycotic mycetoma A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. tmpak2llvmy_mondo_relaxed.owl maduromycosis|mycotic mycetoma|Maduromycosis, mycotic|Madura foot|eumycetoma SCTID:410038006|ICD10:B47|ICD9:117.4|EFO:0007265|ICD10:B47.9|DOID:13078 owl:Class MONDO:0011097 biolink:NamedThing Axenfeld-Rieger syndrome type 2 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. tmpak2llvmy_mondo_relaxed.owl Rieger syndrome, type 2|Rieger syndrome type 2|Axenfeld-Rieger syndrome, type 2|RIEG2 OMIM:601499|UMLS:C1832229|DOID:0110121|MESH:C535680|ICD10:Q13.8 owl:Class MONDO:0017786 biolink:NamedThing 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. tmpak2llvmy_mondo_relaxed.owl dup(2)(q23.1)|trisomy 2q23.1 SCTID:766816008|ICD10:Q92.3|Orphanet:313947|UMLS:CN203736 owl:Class HGNC:24579 biolink:NamedThing CIB2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C36292 biolink:NamedThing Laboratory Test Result tmpak2llvmy_mondo_relaxed.owl Laboratory Test Result owl:Class GO:0051119 biolink:NamedThing sugar transmembrane transporter activity Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides. tmpak2llvmy_mondo_relaxed.owl sugar/polyol channel activity owl:Class MONDO:0002945 biolink:NamedThing micronodular basal cell carcinoma A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back. tmpak2llvmy_mondo_relaxed.owl skin micronodular basal cell carcinoma UMLS:C1367861|NCIT:C27541|DOID:4289|SCTID:402529002 owl:Class GO:0005984 biolink:NamedThing disaccharide metabolic process The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units. tmpak2llvmy_mondo_relaxed.owl disaccharide metabolism owl:Class GO:0009311 biolink:NamedThing oligosaccharide metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. tmpak2llvmy_mondo_relaxed.owl multicellular organismal oligosaccharide metabolic process|oligosaccharide metabolism owl:Class MONDO:0011228 biolink:NamedThing creases, infra-auricular cutaneous, with tall stature and advanced bone age tmpak2llvmy_mondo_relaxed.owl creases, infra-auricular cutaneous, with tall stature and advanced bone age UMLS:C1865360|OMIM:602472|MESH:C566543 owl:Class MONDO:0031001 biolink:NamedThing vitreoretinopathy with phalangeal epiphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl VPED OMIM:619248 owl:Class MONDO:0021010 biolink:NamedThing skin lymphangiosarcoma A malignant vascular neoplasm of the skin arising from the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl lymphangiosarcoma of Stewart and Treves|lymphangiosarcoma of the skin|lymphangiosarcoma of skin|skin lymphangiosarcoma SCTID:62497000|UMLS:C0346082|ICD9:171.2|NCIT:C4490 owl:Class MONDO:0008342 biolink:NamedThing pubic bone dysplasia tmpak2llvmy_mondo_relaxed.owl pubic bone dysplasia MESH:C566735|OMIM:178350|UMLS:C1867436 owl:Class MONDO:0005729 biolink:NamedThing dicrocoeliasis Infection with flukes of the genus Dicrocoelium. tmpak2llvmy_mondo_relaxed.owl Dicrocoelium caused disease or disorder|disease due to Dicrocoeliidae|Dicrocoelium disease or disorder|Dicrocoelium infectious disease ICD10:B66.2|DOID:1219|MESH:D004011|SCTID:105668007|UMLS:C1737210|ICD9:121.8|UMLS:C0012102|EFO:0007234 owl:Class MONDO:0032664 biolink:NamedThing ciliary dyskinesia, primary, 40 tmpak2llvmy_mondo_relaxed.owl CILD40|Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 40 OMIM:618300 owl:Class MONDO:0009364 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|muscle-eye-brain-POMT1 related|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|cod-MD syndrome|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|cerebroocular dysplasia-muscular dystrophy syndrome|MDDGA1|hydrocephalus, agyria, and retinal dysplasia|hard syndrome UMLS:C4284790|DOID:0111237|NCIT:C128118|UMLS:CN033898|OMIM:236670 owl:Class MONDO:0013121 biolink:NamedThing glaucoma 3, primary congenital, C tmpak2llvmy_mondo_relaxed.owl GLC3C|glaucoma 3, primary congenital, C OMIM:613085 owl:Class UBERON:0004204 biolink:NamedThing outer medullary collecting duct The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla tmpak2llvmy_mondo_relaxed.owl outer renal medulla collecting duct|kidney outer medulla collecting duct owl:Class ENVO:01001143 biolink:NamedThing lava planet A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010808 biolink:NamedThing fatal familial insomnia Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. tmpak2llvmy_mondo_relaxed.owl Insomnia, fatal familial|fatal familial INSOMNIA|familial fatal insomnia|fatal familial insomnia|Insomnia familial fatal|FFI DOID:0050433|OMIM:600072|ICD10:A81.8|GARD:0006429|MESH:D034062|Orphanet:466|ICD9:046.72|NCIT:C84711|UMLS:C0206042|ICD10:A81.83|SCTID:83157008|MedDRA:10072077 https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia owl:Class MONDO:0011594 biolink:NamedThing ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis|ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis UMLS:C3148970|OMIM:605756 owl:Class MONDO:0009591 biolink:NamedThing metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. tmpak2llvmy_mondo_relaxed.owl ARSA deficiency|metachromatic leukodystrophy, juvenile form|metachromatic leukoencephalopathy|leukodystrophy metachromatic|MLD, juvenile form|cerebral sclerosis, diffuse, metachromatic form|sulfatide lipidosis|MLD|cerebral sclerosis diffuse metachromatic form|pseudoarylsulfatase A deficiency|metachromatic leukodystrophy, adult|Mld|metachromatic leukodystrophy|metachromatic leukodystrophy, juvenile|arylsulfatase A deficiency|cerebroside sulfatase deficiency|metachromatic leukodystrophy, late infantile|arylsulfatase A deficiency, juvenile form OMIM:250100|SCTID:238031009|GARD:0003230|ICD10:E75.2|Orphanet:309263|GARD:0004545 owl:Class MONDO:0024345 biolink:NamedThing pityriasis streptogenes tmpak2llvmy_mondo_relaxed.owl pityriasis streptogenes ICD9:696.5|SCTID:200994002 owl:Class MONDO:0005413 biolink:NamedThing cystic fibrosis associated meconium ileus Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. tmpak2llvmy_mondo_relaxed.owl cystic fibrosis associated meconium ileum EFO:0004608 owl:Class MONDO:0100086 biolink:NamedThing perinatal disease A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. tmpak2llvmy_mondo_relaxed.owl perinatal disorder|perinatal condition http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:14581 biolink:NamedThing PINK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015879 biolink:NamedThing non-syndromic diaphragmatic or thoracic malformation tmpak2llvmy_mondo_relaxed.owl nonsyndromic diaphragmatic or thoracic malformation|isolated diaphragmatic or thoracic malformation Orphanet:180776 owl:Class MONDO:0018694 biolink:NamedThing isolated tracheo-esophageal fistula A congenital or acquired abnormal communication between the trachea and the esophagus. tmpak2llvmy_mondo_relaxed.owl isolated tracheoesophageal fistula|tracheoesophageal fistula|H-type tracheoesophageal fistula|tracheo-esophageal fistula Orphanet:454750|ICD10:Q39.2|NCIT:C35080 owl:Class MONDO:0016188 biolink:NamedThing qualitative or quantitative defects of alphaB-cristallin tmpak2llvmy_mondo_relaxed.owl Orphanet:209044 owl:Class MONDO:0044710 biolink:NamedThing lip and oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. tmpak2llvmy_mondo_relaxed.owl lip and oral cavity squamous cell carcinoma|lip and oral cavity squamous cell cancer|lip/oral cavity squam. cell car.|squamous cell carcinoma of oral cavity and lip NCIT:C42690|UMLS:C0280297|Orphanet:502369 owl:Class MONDO:0042498 biolink:NamedThing Ruzicka-Goerz-Anton syndrome tmpak2llvmy_mondo_relaxed.owl ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma|ichthyosis deafness intellectual disability skeletal anomalies|Ruzicka Goerz Anton syndrome|ichthyosis deafness mental retardation skeletal anomalies GARD:0000210|UMLS:C2931438|MESH:C537192 owl:Class CL:0002538 biolink:NamedThing intrahepatic cholangiocyte An epithelial cell of the intrahepatic portion of the bile duct. These cells are flattened or cuboidal in shape, and have a small nuclear-to-cytoplasmic ratio relative to large/extrahepatic cholangiocytes. tmpak2llvmy_mondo_relaxed.owl small bile duct cholangiocyte tmeehan 2011-02-28T01:20:20Z cell owl:Class GO:0009314 biolink:NamedThing response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpak2llvmy_mondo_relaxed.owl response to radiation stimulus|response to electromagnetic radiation stimulus owl:Class MONDO:0033562 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia tmpak2llvmy_mondo_relaxed.owl NEDDISH|NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA OMIM:619005 owl:Class MONDO:0013017 biolink:NamedThing hypotrichosis 5 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3. tmpak2llvmy_mondo_relaxed.owl Muhh2|hypotrichosis type 5|HYPT5|hypt5|Marie Unna hereditary hypotrichosis 2|hypotrichosis 5 DOID:0110702|OMIM:612841|UMLS:C2748535|MESH:C567554 owl:Class MONDO:0004760 biolink:NamedThing urethral false passage tmpak2llvmy_mondo_relaxed.owl ICD10:N36.5|ICD9:599.4|DOID:9339|SCTID:74944002 owl:Class GO:0070129 biolink:NamedThing regulation of mitochondrial translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpak2llvmy_mondo_relaxed.owl regulation of mitochondrial protein synthesis|regulation of mitochondrial protein formation|regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein anabolism owl:Class MONDO:0001846 biolink:NamedThing uterine corpus bizarre leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. tmpak2llvmy_mondo_relaxed.owl body of uterus bizarre leiomyoma|uterine corpus Symplastic leiomyoma|uterine corpus leiomyoma with bizarre nuclei|uterine corpus bizarre leiomyoma|uterine corpus leiomyoma, atypical variant|bizarre leiomyoma of body of uterus UMLS:C1519853|NCIT:C40167|DOID:13958 owl:Class MONDO:0003288 biolink:NamedThing bizarre leiomyoma A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. tmpak2llvmy_mondo_relaxed.owl atypical leiomyoma|pleomorphic leiomyoma|Symplastic leiomyoma|bizarre leiomyoma ICDO:8893/0|UMLS:C0334478|NCIT:C4257|DOID:5127 owl:Class MONDO:0015536 biolink:NamedThing papular xanthoma Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. tmpak2llvmy_mondo_relaxed.owl SCTID:765221009|ICD10:D76.3|UMLS:CN199692|Orphanet:158008 owl:Class MONDO:0019075 biolink:NamedThing Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:69737 owl:Class MONDO:0003701 biolink:NamedThing thyroid gland diffuse sclerosing papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. tmpak2llvmy_mondo_relaxed.owl papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing papillary thyroid carcinoma|nonencapsulated sclerosing tumor|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing carcinoma|nonencapsulated sclerosing neoplasm|nonencapsulated sclerosing adenocarcinoma NCIT:C7427|UMLS:C0334330|ICDO:8350/3|UMLS:C1321862|DOID:5914 owl:Class NCBITaxon:2093 biolink:NamedThing Mycoplasma tmpak2llvmy_mondo_relaxed.owl Bovimyces|Eperythrozoon|Borrelomyces|Haemobartonella|Asteromyces|Pleuropneumonia|Asterococcus PMID:15176735|PMID:8995799|PMID:16350067|PMID:25288662|PMID:8863441|PMID:11931184|PMID:16403858|PMID:11321109|PMID:13403276|PMID:10826816|GC_ID:4|PMID:11411711 NCBITaxon:57371|NCBITaxon:29500 ncbi_taxonomy owl:Class NCBITaxon:2092 biolink:NamedThing Mycoplasmataceae tmpak2llvmy_mondo_relaxed.owl Borrelomycetaceae|Parasitaceae|Pleuropneumoniaceae PMID:13403276|GC_ID:4|PMID:16350067 ncbi_taxonomy owl:Class MONDO:0025376 biolink:NamedThing African horse sickness An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. tmpak2llvmy_mondo_relaxed.owl horse sickness, African|African Horsesickness|sickness, African horse|plague, equine|horse Sicknesses, African|Horsesicknesses, African|equine plague|African Horsesicknesses|Horsesickness, African|equine Plagues|Plagues, equine|Sicknesses, African horse|African horse Sicknesses MESH:D000355|UMLS:C0001748 owl:Class MONDO:0024950 biolink:NamedThing horse disease Diseases of domestic and wild horses of the species Equus caballus. tmpak2llvmy_mondo_relaxed.owl diseases, horse|equine disease|horse disease|disease, equine|disease, horse|equine diseases|diseases, equine MESH:D006734|UMLS:C0019940 owl:Class GO:0010608 biolink:NamedThing posttranscriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006404 biolink:NamedThing salivary gland large cell carcinoma A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. tmpak2llvmy_mondo_relaxed.owl large cell undifferentiated salivary gland carcinoma|large cell salivary gland carcinoma|salivary gland large cell carcinoma|saliva-secreting gland large cell carcinoma UMLS:C2111671|NCIT:C35735|EFO:1000517 owl:Class MONDO:0008288 biolink:NamedThing popliteal cyst A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. tmpak2llvmy_mondo_relaxed.owl baker cyst|popliteal cyst MESH:D011151|ICD9:727.51|OMIM:175750|SCTID:82675004 owl:Class MONDO:0004012 biolink:NamedThing adult botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpak2llvmy_mondo_relaxed.owl adult botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of adults|adult botryoid sarcoma UMLS:C1332185|DOID:6847|NCIT:C36099 owl:Class NCBITaxon:11632 biolink:NamedThing Retroviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2169561 biolink:NamedThing Ortervirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0022853 biolink:NamedThing active ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016842 biolink:NamedThing paternal 20q13.2q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl paternal monosomy 20q13.2-q13.3|paternal 20q13.2-q13.3 microdeletion syndrome|paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2q13.3 SCTID:724070005|ICD10:Q93.5|UMLS:C4510306|Orphanet:261304|UMLS:CN202182 owl:Class MONDO:0012489 biolink:NamedThing cataract 23 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene. tmpak2llvmy_mondo_relaxed.owl cataract 23, multiple types|CRYBA4 early-onset non-syndromic cataract|cataract 23|lamellar cataract 23|CTRCT23|early-onset non-syndromic cataract caused by mutation in CRYBA4|cataract 23, multiple types, with or without microcornea|cataract 23, lamellar|cataract type 23 DOID:0110271|OMIM:610425|ICD10:Q12.0|UMLS:C3808012 owl:Class MONDO:0016963 biolink:NamedThing partial duplication of the long arm of chromosome 13 Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13. tmpak2llvmy_mondo_relaxed.owl partial duplication of chromosome 13q|partial trisomy of chromosome 13q|partial trisomy of the long arm of chromosome 13|13q trisomy|Duplication 13q|trisomy 13q|partial duplication of the long arm of chromosome type 13|chromosome 13q duplication|13q duplication|partial trisomy 13q GARD:0001929|Orphanet:262932 owl:Class GO:0006997 biolink:NamedThing nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. tmpak2llvmy_mondo_relaxed.owl nuclear organization|nuclear organisation|nuclear morphology|nucleus organization and biogenesis|nuclear organization and biogenesis owl:Class MONDO:0009214 biolink:NamedThing Fanconi anemia complementation group D2 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. tmpak2llvmy_mondo_relaxed.owl Fanconi pancytopenia type 4|FA4|Fanconi anemia, complementation group D2|Fad2|FANCD2|Fanconi anemia complementation group D2|FAD2|Fanconi pancytopenia, type 4|Fanconi Anemia, complementation group D OMIM:227646|UMLS:C3160738|DOID:0111083|NCIT:C125706 owl:Class MONDO:0018758 biolink:NamedThing familial patent arterial duct Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. tmpak2llvmy_mondo_relaxed.owl Orphanet:466729|UMLS:CN242171 owl:Class MONDO:0001480 biolink:NamedThing malignant tumor of undescended testis tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of undescended testis|malignant tumor of retained testis|malignant neoplasm of retained testis ICD9:186.0|DOID:12276|UMLS:C0153595|SCTID:188219004|ICD10:C62.0 owl:Class MONDO:0007762 biolink:NamedThing hyperlipoproteinemia type V A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. tmpak2llvmy_mondo_relaxed.owl hyperlipemia mixed|type V hyperlipoproteinemia|HLP type 5|hyperlipidemia, type 5|familial hyperlipoproteinemia type V|familial type 5 hyperlipoproteinemia|hyperlipidemia type V|Fredrickson type V lipaemia|hyperlipoproteinemia, type 5|hyperlipemia combined fat and carbohydrate-induced|major hyperlipidemia|hyperlipoproteinemia type 5|hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|hyperchylomicronemia late onset|mixed hyperlipemia|hyperchylomicronemia, late-onset|hyperlipoproteinemia, type V|hyperlipemia, mixed|hyperlipemia, combined fat and carbohydrate-induced GARD:0006704|OMIM:144650|DOID:1171|ICD10:E78.3|SCTID:34349009|MESH:D006954|MedDRA:10060755|Orphanet:70470 https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 owl:Class HGNC:2876 biolink:NamedThing DIAPH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032687 biolink:NamedThing intellectual developmental disorder with abnormal behavior, microcephaly, and short stature tmpak2llvmy_mondo_relaxed.owl IDDABS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM:618342 owl:Class HP:0000508 biolink:NamedThing Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). tmpak2llvmy_mondo_relaxed.owl Eye drop|Blepharoptosis|Drooping upper eyelid|Eyelid ptosis SNOMEDCT_US:11934000|MSH:D001763|UMLS:C0005745 human_phenotype owl:Class MONDO:0014627 biolink:NamedThing dystonia 27 Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene. tmpak2llvmy_mondo_relaxed.owl DYT27|COL6A3 dystonic disorder|dystonic disorder caused by mutation in COL6A3|primary dystonia, DYT27 type|dystonia 27|dystonia type 27 DOID:0090050|Orphanet:464440|UMLS:C4225336|ICD10:G24.1|OMIM:616411 owl:Class MONDO:0006326 biolink:NamedThing ocular melanoma with extraocular extension A melanoma arising from and extending beyond the structures of the eye. tmpak2llvmy_mondo_relaxed.owl extraocular extension melanoma|extraocular extension of melanoma|ocular melanoma with extraocular extension UMLS:C0278869|NCIT:C7913|EFO:1000404 owl:Class GO:0009167 biolink:NamedThing purine ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine ribonucleoside monophosphate metabolism owl:Class GO:0009126 biolink:NamedThing purine nucleoside monophosphate metabolic process The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine nucleoside monophosphate metabolism owl:Class MONDO:0024183 biolink:NamedThing wet beriberi tmpak2llvmy_mondo_relaxed.owl DOID:0070317|ICD10CM:E51.12 owl:Class UBERON:0005003 biolink:NamedThing mucosa of left hepatic duct A mucosa that is part of a left hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl left hepatic duct organ mucosa|left hepatic duct mucous membrane|left hepatic duct mucosa of organ|mucous membrane of left hepatic duct|left hepatic duct mucosa|organ mucosa of left hepatic duct|mucosa of organ of left hepatic duct|left hepatic ductal mucosa owl:Class UBERON:0004115 biolink:NamedThing blood vessel of tympanic cavity A blood vessel that is part of a tympanic cavity [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tympanic cavity blood vessel|cavity of middle ear blood vessel|blood vessel of anatomical cavity of middle ear|blood vessel of middle ear anatomical cavity|blood vessel of cavity of middle ear|middle ear cavity blood vessel|blood vessel of middle ear cavity|middle ear anatomical cavity blood vessel|anatomical cavity of middle ear blood vessel|middle ear blood vessel owl:Class MONDO:0003997 biolink:NamedThing colon Kaposi sarcoma A Kaposi sarcoma arising from the colon. tmpak2llvmy_mondo_relaxed.owl Kaposi's sarcoma of colon|colon Kaposis sarcoma|colonic Kaposis sarcoma|colon Kaposi sarcoma|colonic Kaposi's sarcoma|colon Kaposi's sarcoma (disease)|colon Kaposi's sarcoma|Kaposi's sarcoma (disease) of colon|colonic Kaposi sarcoma|Kaposi's sarcoma of the colon UMLS:C1333091|NCIT:C5516|DOID:6804 owl:Class MONDO:0019538 biolink:NamedThing Gaisbock syndrome Polycythemia that is caused by stress. tmpak2llvmy_mondo_relaxed.owl polycythemia, emotional|Gaisboeck's syndrome|stress polycythemia|Gaisbock's syndrome|stress erythrocytosis|Pseudopolycythemia|Pseudopolycythaemia|GaisböCK syndrome Orphanet:90041|MedDRA:10042217|ICD10:D75.1|MedDRA:10053885|UMLS:C2242785|UMLS:CN206365|DOID:2838|UMLS:C0541719|GARD:0008402|NCIT:C27174|SCTID:36874002 owl:Class HGNC:9882 biolink:NamedThing RASSF1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004509 biolink:NamedThing skeletal muscle tissue of trapezius A portion of skeletal muscle tissue that is part of a trapezius [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle tissue of trapezius muscle owl:Class MONDO:0015712 biolink:NamedThing non-distal trisomy 10q Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. tmpak2llvmy_mondo_relaxed.owl non-distal trisomy type 10q|non-distal duplication 10q|non-telomeric trisomy 10q Orphanet:1695|ICD10:Q92.3 owl:Class MONDO:0000661 biolink:NamedThing alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. tmpak2llvmy_mondo_relaxed.owl DOID:0060131 owl:Class UBERON:0016478 biolink:NamedThing liver stroma A stroma that is part of a liver. tmpak2llvmy_mondo_relaxed.owl hepatic stroma|stroma of liver owl:Class HGNC:144 biolink:NamedThing ACTG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002864 biolink:NamedThing anus rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. tmpak2llvmy_mondo_relaxed.owl anal rhabdomyosarcoma|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of anus|anus rhabdomyosarcoma (disease)|rhabdomyosarcoma of the anus DOID:4066|NCIT:C5610|UMLS:C1332276 owl:Class MONDO:0010124 biolink:NamedThing thumb, distal hyperextensibility of tmpak2llvmy_mondo_relaxed.owl thumb, distal hyperextensibility of OMIM:274200 owl:Class MONDO:0008261 biolink:NamedThing hereditary sclerosing poikiloderma, Weary type tmpak2llvmy_mondo_relaxed.owl poikiloderma, hereditary sclerosing ICD10:Q82.8|MESH:C562824|OMIM:173700|Orphanet:221039 owl:Class HGNC:28261 biolink:NamedThing TBCK tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03470107 biolink:NamedThing food preservation process The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2) if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=J0107 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class ENVO:09000009 biolink:NamedThing concentration of carbon atom in water The concentration of a carbon atom when measured in water. tmpak2llvmy_mondo_relaxed.owl water carbon atom concentration owl:Class MONDO:0020395 biolink:NamedThing valvar pulmonary stenosis A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). tmpak2llvmy_mondo_relaxed.owl ICD9:746.02|ICD10:Q22.1|MedDRA:10037450|Orphanet:99054 owl:Class HP:0100790 biolink:NamedThing Hernia tmpak2llvmy_mondo_relaxed.owl Hernias SNOMEDCT_US:52515009|UMLS:C0019270|MSH:D006547|SNOMEDCT_US:414403008 doelkens 2011-06-08T02:33:37Z human_phenotype owl:Class MONDO:0005678 biolink:NamedThing bovine respiratory disease complex A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. tmpak2llvmy_mondo_relaxed.owl MESH:D048090|UMLS:C1449809|EFO:0007180 owl:Class MONDO:0016035 biolink:NamedThing Nelson syndrome A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. tmpak2llvmy_mondo_relaxed.owl dermal Ridges|Nelson's syndrome|Ridges-off-the-end syndrome UMLS:C0027577|Orphanet:199244|ICD10:E24.1|MESH:D009347|SCTID:43019009|GARD:0007170|DOID:4968|NCIT:C84917|MedDRA:10028913|MESH:C531754 https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome owl:Class MONDO:0002949 biolink:NamedThing morpheaform basal cell carcinoma A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl morphea-type (sclerosing) basal cell carcinoma|sclerosing type basal cell carcinoma|morphea-type basal cell carcinoma|basal cell carcinoma, morphea|cicatricial basal-cell carcinoma|morpheaform basal cell carcinoma|skin morphea-type (sclerosing) basal cell carcinoma|basal cell carcinoma sclerosing type SCTID:403913006|UMLS:C0555191|DOID:4292|NCIT:C27182 owl:Class MONDO:0002934 biolink:NamedThing intravascular angioleiomyoma A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. tmpak2llvmy_mondo_relaxed.owl intravascular angiomyoma|intravascular angioleiomyoma DOID:4266|NCIT:C5355|UMLS:C1334267 owl:Class MONDO:0012194 biolink:NamedThing aneurysm, intracranial berry, 3 tmpak2llvmy_mondo_relaxed.owl ANIB3|aneurysm, intracranial BERRY, 3 OMIM:609122|MESH:C563792|UMLS:C1836757 owl:Class MONDO:0004276 biolink:NamedThing ceruminoma A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm. tmpak2llvmy_mondo_relaxed.owl ceruminous adenoma|ceruminous adenoma (morphologic abnormality)|adenoma, ceruminous gland, benign|ceruminous adenoma of the external auditory canal|external auditory canal ceruminous adenoma|ceruminous adenoma of external auditory canal UMLS:C1333488|UMLS:C0334352|SCTID:403945001|NCIT:C6088|DOID:7549|ICDO:8420/0 owl:Class UBERON:0036304 biolink:NamedThing anatomical border An anatomical structure that is located along the line dividing two regions of an anatomical structure. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009416 biolink:NamedThing response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042697 biolink:NamedThing menopause Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010273 biolink:NamedThing zone of hyoid bone A zone of bone organ that is part of a hyoid bone. tmpak2llvmy_mondo_relaxed.owl hyoid bone zone owl:Class MONDO:0008249 biolink:NamedThing pilonidal sinus A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. tmpak2llvmy_mondo_relaxed.owl pilonidal sinus (disease)|pilonidal sinus pilonidal sinus (disease) SCTID:47639008|OMIM:173000|MESH:D010864|HP:0010769 owl:Class CHEBI:26677 biolink:NamedThing silicon molecular entity tmpak2llvmy_mondo_relaxed.owl silicon molecular entities|silicon compounds|silicon molecular entity owl:Class MONDO:0000483 biolink:NamedThing oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. tmpak2llvmy_mondo_relaxed.owl DOID:0050842 owl:Class MONDO:0013294 biolink:NamedThing atopic dermatitis 8 An atopic dermatitis associated with variation in the region 4q22.1. tmpak2llvmy_mondo_relaxed.owl ATOD8|dermatitis, ATOPIC, 8|atopic dermatitis type 8|dermatitis, Atopic, severity of UMLS:C3150763|DOID:0110104|OMIM:613518 owl:Class GO:0080145 biolink:NamedThing cysteine homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7856 biolink:NamedThing NQO2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008858 biolink:NamedThing Behr syndrome Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. tmpak2llvmy_mondo_relaxed.owl Behr syndrome|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|optic atrophy, infantile hereditary, with neurologic abnormalities|BEHRS|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|optic atrophy, infantile hereditary, Behr complicated form of GARD:0000849|MESH:C537669|UMLS:C0221061|DOID:0111580|ICD10:H35.5|SCTID:718221007|Orphanet:1239|OMIM:210000 Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form https://rarediseases.info.nih.gov/diseases/849/behr-syndrome owl:Class MONDO:0060583 biolink:NamedThing platelet abnormalities with eosinophilia and immune-mediated inflammatory disease tmpak2llvmy_mondo_relaxed.owl platelet abnormalities with eosinophilia and immune-mediated inflammatory disease|PLTEID OMIM:617718|UMLS:C4540232 owl:Class CHEBI:50177 biolink:NamedThing dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. tmpak2llvmy_mondo_relaxed.owl dermatologic agent|dermatological agent|dermatologic drugs owl:Class HGNC:26401 biolink:NamedThing MARVELD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023068 biolink:NamedThing engelhard yatziv syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002124 https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome owl:Class MONDO:0001024 biolink:NamedThing pneumonic plague A plague in which the bacteria have infected the lungs. tmpak2llvmy_mondo_relaxed.owl secondary pneumonic plague|primary pneumonic plague ICD9:020.3|DOID:10398|UMLS:C0524688|ICD10:A20.2|ICD9:020.5|ICD9:020.4|SCTID:35339003 owl:Class MONDO:0006109 biolink:NamedThing malignant biphasic mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features. tmpak2llvmy_mondo_relaxed.owl mixed mesothelioma|malignant biphasic mesothelioma, malignant|mesothelioma, biphasic, malignant|biphasic mesothelioma|malignant biphasic mesothelioma|mesothelioma, biphasic, malignant (morphologic abnormality)|malignant mixed mesothelioma ICDO:9053/3|DOID:4486|NCIT:C4282|UMLS:C0334515|EFO:1000124 owl:Class MONDO:0010077 biolink:NamedThing spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. tmpak2llvmy_mondo_relaxed.owl SMED type 2|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|spondylometaepiphyseal dysplasia, short limb-hand type|Smed-SL|SMED short limb-hand type|Smed, short limb-hand type|spondylometaepiphyseal dysplasia short limb-hand type|Smed-SL/Ac|Smed, short limb-abnormal calcification type|Smed, type 2|spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type UMLS:C1849011|MESH:C564794|OMIM:271665|GARD:0010616|ICD10:Q77.7|Orphanet:93358 owl:Class MONDO:0011416 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 1 tmpak2llvmy_mondo_relaxed.owl Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1|GEFSP1 UMLS:C1858672|OMIM:604233|MESH:C565809|DOID:0111302 owl:Class MONDO:0002273 biolink:NamedThing plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. tmpak2llvmy_mondo_relaxed.owl DOID:2345|ICD9:273.8 owl:Class MONDO:0018678 biolink:NamedThing polyclonal hyperviscosity syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN237743|Orphanet:450322|ICD10:D89.0 owl:Class CL:0000459 biolink:NamedThing noradrenergic cell A cell capable of producting norepiniphrine. Norepiniphrine is a catecholamine with multiple roles including as a hormone and a neurotransmitter. In addition, epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme. tmpak2llvmy_mondo_relaxed.owl norepinephrin secreting cell|norepinephrine secreting cell|noradrenaline secreting cell cell owl:Class HGNC:2035 biolink:NamedThing CLDN14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020323 biolink:NamedThing primary mediastinal large B-cell lymphoma A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl B-cell diffuse large cell lymphoma of mediastinum|mediastinal (thymic) large B-cell lymphoma|Med-DLBCL|B-cell diffuse large cell lymphoma of the mediastinum|mediastinal large B-cell lymphoma|mediastinal diffuse large cell lymphoma with sclerosis|PMLCL|large cell lymphoma of the mediastinum|primary mediastinal clear cell lymphoma of B-cell type|primary mediastinal large B-cell lymphoma|PMBL|mediastinal diffuse large-cell lymphoma with sclerosis|primary mediastinal B-cell lymphoma|mediastinal B-cell diffuse large cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma ICD10:C83.3|DOID:0080210|NCIT:C9280|SCTID:444910004|ICD10:C85.2|MedDRA:10036710|ICDO:9679/3|UMLS:C1292754|Orphanet:98838|ONCOTREE:PMBL owl:Class GO:0009411 biolink:NamedThing response to UV Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpak2llvmy_mondo_relaxed.owl response to UV light stimulus|response to UV radiation stimulus|response to ultraviolet radiation stimulus|response to ultraviolet light stimulus owl:Class MONDO:0007123 biolink:NamedThing ankyloblepharon filiforme adnatum-cleft palate syndrome tmpak2llvmy_mondo_relaxed.owl congenital filiform fusion of the eyelids with cleft palate and/or cleft lip|ankyloblepharon filiforme adnatum|ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme congenitum|AFA|ankyloblepharon filiforme adnatum cleft palate UMLS:C1302999|OMIM:106250|GARD:0000696|SCTID:400952003|Orphanet:1072|MESH:C536373|ICD10:Q87.0 owl:Class MONDO:0011531 biolink:NamedThing Noonan syndrome 2 tmpak2llvmy_mondo_relaxed.owl autosomal recessive Noonan syndrome|NS2|Noonan syndrome, autosomal recessive|Noonan syndrome 2|Noonan syndrome type 2|Noonan syndrome autosomal recessive OMIM:605275|GARD:0010698|DOID:0060580|UMLS:C1854469|MESH:C548081 https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 owl:Class MONDO:0004941 biolink:NamedThing eosinophilia-myalgia syndrome A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) tmpak2llvmy_mondo_relaxed.owl EMS|eosinophilia myalgia syndrome|L-tryptophan induced EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|severe muscle pain and abnormally high eosinophils DOID:998|GARD:0006345|ICD9:710.5|MESH:D016603|SCTID:95416007|EFO:1001316 https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome owl:Class MONDO:0023003 biolink:NamedThing double fingernail of fifth finger tmpak2llvmy_mondo_relaxed.owl GARD:0001906 Editor note: consider making a grouping class with MONDO:0007469 https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger owl:Class MONDO:0009614 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblB An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. tmpak2llvmy_mondo_relaxed.owl methylmalonic aciduria, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|methylmalonic acidemia cblB type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic acidemia, cblB type|methylmalonic aciduria cblB type|vitamin B12-responsive methylmalonic acidemia type cblB OMIM:251110|DOID:0060743|Orphanet:79311|ICD10:E71.1|NCIT:C142172|GARD:0009479|UMLS:C1855102 owl:Class MONDO:0012862 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl motor timing quantitative trait locus|Adhd5|attention Deficit-hyperactivity disorder, susceptibility to, type 5|attention deficit-hyperactivity disorder, susceptibility to, 5 OMIM:612311 owl:Class MONDO:0011664 biolink:NamedThing immunodeficiency due to CD25 deficiency tmpak2llvmy_mondo_relaxed.owl IL2RA deficiency|CD25 deficiency|Interleukin 2 receptor, alpha, deficiency of|IMD41|immunodeficiency due to CD25 deficiency|immunodeficiency 41 with lymphoproliferation and autoimmunity|Interleukin-2 receptor alpha chain deficiency UMLS:C1853392|Orphanet:169100|MESH:C565232|OMIM:606367|ICD10:D81.2 owl:Class MONDO:0042977 biolink:NamedThing trichoepithelioma, multiple familial, 1 tmpak2llvmy_mondo_relaxed.owl epithelioma, hereditary multiple benign cystic|trichoepithelioma multiple familial 1|epithelioma adenoides cysticum of Brooke|multiple familial trichoepithelioma 1|MFT1|trichoepithelioma, multiple familial, 1|Brooke-Fordyce Trichoepitheliomas GARD:0005262|OMIM:601606 owl:Class MONDO:0011114 biolink:NamedThing familial multiple trichoepithelioma tmpak2llvmy_mondo_relaxed.owl Brooke-Fordyce Trichoepitheliomas|trichoepithelioma multiple familial|epithelioma, hereditary multiple benign cystic|epithelioma adenoides cysticum|multiple familial trichoepithelioma|hereditary multiple benign cystic epithelioma|epithelioma Adenoides Cysticum of Brooke ICD10:D23.3|SCTID:403825008|UMLS:C1275122|GARD:0010867|Orphanet:867 owl:Class MONDO:0008464 biolink:NamedThing split hand-foot malformation 1 Split-hand/foot malformation mapped to chromosome 7q21.3 tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation 1|split-hand/foot deformity 1|split-hand deformity|SHFM1|ectrodactyly|split-hand/foot malformation type 1|split-hand/foot malformation 1 with or without deafness|SHFD1|split hand-foot malformation type 1 NCIT:C75045|UMLS:C2931019|ICD10:Q71.6|DOID:0090021|OMIM:183600|GARD:0007685 owl:Class UBERON:0003592 biolink:NamedThing bronchus connective tissue A portion of connective tissue that is part of a bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl portion of connective tissue of bronchi|bronchus portion of connective tissue|connective tissue of bronchus|bronchial mesenchyme|connective tissue of bronchi|textus connectivus of bronchi|bronchial trunk connective tissue|bronchial connective tissue|connective tissue of bronchial trunk|portion of connective tissue of bronchial trunk|bronchi textus connectivus|bronchi connective tissue|bronchial trunk textus connectivus|bronchi portion of connective tissue|bronchial trunk portion of connective tissue|textus connectivus of bronchial trunk|portion of connective tissue of bronchus|bronchus textus connectivus|textus connectivus of bronchus owl:Class MONDO:0011120 biolink:NamedThing neural tube defects, folate-sensitive tmpak2llvmy_mondo_relaxed.owl NTDFS|neural tube defects, folate-sensitive|spina bifida, folate-sensitive|NTD, folate-sensitive OMIM:601634|UMLS:C1866558 owl:Class MONDO:0032610 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 5 tmpak2llvmy_mondo_relaxed.owl MC1DN5|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 OMIM:618226 owl:Class UBERON:0016399 biolink:NamedThing lymph node of upper limb A lymph node that is part of a forelimb. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002255 biolink:NamedThing stromal cell of endometrium Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets. tmpak2llvmy_mondo_relaxed.owl endometrial stromal cell FMA:86490|CALOHA:TS-1266 tmeehan 2010-09-08T09:50:04Z cell owl:Class MONDO:0010322 biolink:NamedThing intellectual disability, X-linked 2 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 2|mental retardation, X-linked 2|MRX2 MESH:C563135|UMLS:C0796207|OMIM:300428 owl:Class NCBITaxon:43801 biolink:NamedThing Ceratopogoninae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000343 biolink:NamedThing Barmah forest virus disease A disease caused by infection with Barmah Forest virus. tmpak2llvmy_mondo_relaxed.owl Barmah Forest virus infectious disease|Barmah Forest virus disease or disorder|Barmah Forest virus caused disease or disorder DOID:0050517 owl:Class MONDO:0000265 biolink:NamedThing aspiration pneumonia A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. tmpak2llvmy_mondo_relaxed.owl Mendelson syndrome|aspiration Pneumonias|syndrome, Mendelson's|acid aspiration syndromes|syndrome, Mendelson|Pneumonias, aspiration|gastric acid aspiration syndrome|aspiration pneumonia|acid aspiration syndrome|Mendelsons syndrome|syndrome, acid aspiration|Mendelson's syndrome|aspiration pneumonia (disease)|inhalation pneumonia|syndromes, acid aspiration aspiration pneumonia (disease) UMLS:C0032290|MESH:D011015|ICD10:J69.0|HP:0011951|DOID:0050152|UMLS:C0085740|SCTID:422588002 owl:Class MONDO:0006731 biolink:NamedThing drug-induced akathisia An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. tmpak2llvmy_mondo_relaxed.owl MESH:D017109|MedDRA:10001540|EFO:1000903|ICD10:G25.71|ICD9:333.99|SCTID:230333002 owl:Class MONDO:0008276 biolink:NamedThing generalized juvenile polyposis/juvenile polyposis coli tmpak2llvmy_mondo_relaxed.owl jPS|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis coli|juvenile polyposis of stomach|generalized juvenile polyposis/juvenile polyposis coli|juvenile polyposis syndrome|polyposis, juvenile intestinal|juvenile intestinal polyposis DOID:0050787|Orphanet:329971|ICD10:D12.6|UMLS:CN204230 owl:Class HGNC:2291 biolink:NamedThing COX7B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006663 biolink:NamedThing perinatal asphyxia A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process. tmpak2llvmy_mondo_relaxed.owl hypoxic and ischemic brain injury in the newborn|asphyxia, in liveborn infant|asphyxia - birth|fetal asphyxia|intrapartum asphyxia|HIE|postnatal asphyxia|birth asphyxia|birth depression|hypoxic-ischemic encephalopathy|hypoxia neonatorum|perinatal asphyxia|neonatal hypoxic and ischemic brain injury|perinatal hypoxia|perinatal depression|asphyxia neonatorum Orphanet:137577|GARD:0005857|ICD9:768.9|UMLS:C0004045|DOID:11088|SCTID:28314004|MESH:D001238|ICD10:P84|EFO:1000824|NCIT:C116313 Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum owl:Class HP:0025408 biolink:NamedThing Abnormal spleen morphology Any anomaly of the structure of the spleen. tmpak2llvmy_mondo_relaxed.owl Splenic lesion 2017-04-23 10:55:52+00:00 HPO:probinson human_phenotype owl:Class MONDO:0009941 biolink:NamedThing Pygmy tmpak2llvmy_mondo_relaxed.owl Pygmy, African|Pygmy UMLS:C1849524|OMIM:265850 owl:Class NCBITaxon:116926 biolink:NamedThing Philophthalmidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10566 biolink:NamedThing Human papillomavirus tmpak2llvmy_mondo_relaxed.owl Human Papilloma Virus|human papillomavirus HPV GC_ID:1 ncbi_taxonomy owl:Class HGNC:11474 biolink:NamedThing SURF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020371 biolink:NamedThing essential iris atrophy Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. tmpak2llvmy_mondo_relaxed.owl ICD10:H21.2|Orphanet:98981|ICD9:364.51|UMLS:C0271111|UMLS:CN207238|SCTID:25913001 owl:Class MONDO:0009603 biolink:NamedThing 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. tmpak2llvmy_mondo_relaxed.owl methacrylic aciduria|HIBCHD|valine metabolic defect|Beta-hydroxyisobutyryl-CoA deacylase deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency|methacrylic acid toxicity|neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|HIBCH deficiency|beta-hydroxyisobutyryl Coa deacylase deficiency ICD10:E71.1|MESH:C562803|Orphanet:88639|GARD:0013202|SCTID:722488009|OMIM:250620 owl:Class UBERON:0005672 biolink:NamedThing right lung endothelium An endothelium that is part of a right lung. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003364 biolink:NamedThing epithelium of right lung An epithelium that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right lung epithelial tissue|epithelial tissue of right lung|right lung epithelium owl:Class MONDO:0002544 biolink:NamedThing brain oligodendroglioma A oligodendroglioma that involves the brain. tmpak2llvmy_mondo_relaxed.owl brain oligodendroglioma|oligodendroglioma of brain|oligodendroglioma of the brain SCTID:254940005|DOID:3187|UMLS:C0346286|NCIT:C9377 owl:Class MONDO:0003272 biolink:NamedThing mixed epithelial stromal tumor tmpak2llvmy_mondo_relaxed.owl mixed epithelial stromal tumour DOID:5088 owl:Class MONDO:0003922 biolink:NamedThing ovarian clear cell malignant adenofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. tmpak2llvmy_mondo_relaxed.owl ovarian clear cell malignant adenofibroma|ovarian clear cell adenocarcinofibroma NCIT:C40079|DOID:6554|UMLS:C2075522|ICDO:8313/3 owl:Class MONDO:0044339 biolink:NamedThing lumbar disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. tmpak2llvmy_mondo_relaxed.owl degenerative disc disease|degenerative disc disorder|lumbar disc degeneration, susceptibility to|lumbar disc herniation, susceptibility to|intervertebral disc degenerative disorder of lumbar region of vertebral column|lumbar disc disease|lumbar Disc degenerative disease|lumbar region of vertebral column intervertebral disc degenerative disorder|lumbar Disc degenerative disorder|intervertebral disc disease|lumbar Disc Degeneration|degeneration of lumbar intervertebral disc|intervertebral DISC disease|IDD OMIM:603932|SCTID:26538006|MESH:C535531|EFO:0004994|NCIT:C27154 owl:Class CL:2000014 biolink:NamedThing fibroblast of upper leg skin Any skin fibroblast that is part of a upper leg skin. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:19:44Z cell owl:Class MONDO:0015706 biolink:NamedThing mosaic trisomy 1 tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy chromosome 1|Mosaic trisomy type 1|trisomy 1 mosaicism Orphanet:1692|ICD10:Q92.1|UMLS:CN073987 owl:Class MONDO:0016152 biolink:NamedThing qualitative or quantitative defects of calpain tmpak2llvmy_mondo_relaxed.owl Orphanet:207104 Editor note: TODO request for IPR001300 owl:Class MONDO:0029137 biolink:NamedThing deafness, autosomal dominant 74 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 74|DFNA74 OMIM:618140 owl:Class MONDO:0006881 biolink:NamedThing orbital cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. tmpak2llvmy_mondo_relaxed.owl orbital cellulitis NCIT:C99000|MedDRA:10031036|EFO:1001076|ICD9:376.01|DOID:11234|SCTID:194005002|ICD10:H05.01|MESH:D054517|UMLS:C0149507 owl:Class MONDO:0044322 biolink:NamedThing intellectual developmental disorder with neuropsychiatric features Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}). tmpak2llvmy_mondo_relaxed.owl intellectual developmental disorder with neuropsychiatric features|IDDNPF OMIM:617532|UMLS:C4479636 owl:Class MONDO:0006143 biolink:NamedThing cervical squamous cell carcinoma A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of cervix|squamous cervical cancer|cervical squamous cell cancer|cervical squamous cell carcinoma|squamous cell carcinoma of uterine cervix|cervix squamous cell carcinoma|uterine cervix squamous cell carcinoma|squamous cell carcinoma of the cervix|squamous cell carcinoma of the uterine cervix|CESC|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of the cervix uteri|cervix uteri squamous cell carcinoma EFO:1000172|ICD10:C53.1|Orphanet:213767|NCIT:C4028|SCTID:254886006|ICD10:C53.0|UMLS:C0279671|ICD10:C53.8|DOID:3744|ONCOTREE:CESC owl:Class UBERON:0005501 biolink:NamedThing rhombomere lateral wall A neural tube lateral wall that is part of a rhombomere. tmpak2llvmy_mondo_relaxed.owl future hindbrain lateral wall owl:Class MONDO:0005464 biolink:NamedThing rhegmatogenous retinal detachment Retinal detachment secondary to retinal tear or break. tmpak2llvmy_mondo_relaxed.owl EFO:0005240|SCTID:19620000|UMLS:C0271055|NCIT:C118755 owl:Class MONDO:0009609 biolink:NamedThing methylcobalamin deficiency type cblG Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. tmpak2llvmy_mondo_relaxed.owl methylcobalamin deficiency Cbl G type|functional methionine synthase deficiency type cblG|methylcobalamin deficiency, cblG type|methylmalonic aciduria and homocystinuria type cblG|homocystinuria due to defect in methylation Cbl g|HMAG|cblG|homocystinuria-megaloblastic anemia, cblG complementation type|methylcobalamin deficiency type cblG|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|methionine synthase deficiency DOID:0050733|OMIM:250940|GARD:0003577|EFO:0005597|SCTID:721187005|GARD:0002733|ICD10:E72.1|Orphanet:2170 https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type owl:Class MONDO:0010738 biolink:NamedThing spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. tmpak2llvmy_mondo_relaxed.owl X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia X-linked|spondylometaphyseal dysplasia Richmond type GARD:0008343|UMLS:C0796172|OMIM:313420|MESH:C563124|Orphanet:168544|ICD10:Q77.8 owl:Class HP:0010307 biolink:NamedThing Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. tmpak2llvmy_mondo_relaxed.owl Noisy breathing MSH:D012135|SNOMEDCT_US:70407001|SNOMEDCT_US:248573009|UMLS:C0237304|UMLS:C0038450 Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. peter 2009-07-12T02:16:48Z human_phenotype owl:Class HP:0030829 biolink:NamedThing Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. tmpak2llvmy_mondo_relaxed.owl UMLS:C0231856|SNOMEDCT_US:301273002 human_phenotype owl:Class MONDO:0006747 biolink:NamedThing enterotoxemia Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. tmpak2llvmy_mondo_relaxed.owl EFO:1000922|UMLS:C0014371|SCTID:370514003|ICD9:799.89|MESH:D004767 owl:Class MONDO:0003915 biolink:NamedThing cortical thymoma A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. tmpak2llvmy_mondo_relaxed.owl thymoma type B2|thymoma, cortical|cortical thymoma|polygonal cell thymoma DOID:6530|ICDO:8584/1|UMLS:C1266095|NCIT:C6888 owl:Class GO:0016903 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors owl:Class MONDO:0016916 biolink:NamedThing partial deletion of the long arm of chromosome 18 tmpak2llvmy_mondo_relaxed.owl partial deletion of the long arm of chromosome type 18|partial monosomy of the long arm of chromosome 18|chromosome 18q deletion|partial monosomy of chromosome 18q|partial deletion of chromosome 18q 2021-01-01 Orphanet:262146|ICD10:Q93.5|GARD:0013000 Reason: duplicate. This will be merged with MONDO:0011147 chromosome 18q deletion syndrome owl:Class MONDO:0009569 biolink:NamedThing Hennekam-Beemer syndrome Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Hennekam Beemer syndrome|mastocytosis-short stature-hearing loss syndrome|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability|mastocytosis cutaneous with short stature conductive hearing loss and microtia|cutaneous mastocytosis, conductive hearing loss and microtia|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation MESH:C536033|UMLS:CN201032|Orphanet:2135|SCTID:722453009|OMIM:248910|ICD10:Q82.2|GARD:0003409 https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia owl:Class HGNC:17697 biolink:NamedThing SARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033481 biolink:NamedThing spinocerebellar ataxia 46 tmpak2llvmy_mondo_relaxed.owl SCA46|spinocerebellar ataxia 46|spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy UMLS:CN623018|OMIM:617770|DOID:0080288|Orphanet:589522 owl:Class MONDO:0016379 biolink:NamedThing erosive pustular dermatosis of the scalp Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. tmpak2llvmy_mondo_relaxed.owl SCTID:238733003|GARD:0002188|Orphanet:222|UMLS:C0406464 https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp owl:Class CHEBI:25985 biolink:NamedThing phenylalanine derivative An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045985 biolink:NamedThing positive regulation of pyrimidine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpak2llvmy_mondo_relaxed.owl upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism|activation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|up-regulation of pyrimidine base metabolic process owl:Class MONDO:0014969 biolink:NamedThing isolated sedoheptulokinase deficiency tmpak2llvmy_mondo_relaxed.owl SHPKD|isolated SHPK deficiency|sedoheptulokinase deficiency Orphanet:440713|SCTID:124309005|ICD9:277.6|OMIM:617213|UMLS:C1291373 owl:Class HGNC:1068 biolink:NamedThing BMP15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019559 biolink:NamedThing hypertrophic or verrucous lupus erythematosus tmpak2llvmy_mondo_relaxed.owl ICD10:L93.2|UMLS:CN227653|Orphanet:90282 owl:Class UBERON:0009550 biolink:NamedThing endoderm of foregut-midgut junction An endoderm that is part of a foregut-midgut junction. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002605 biolink:NamedThing astrocyte of the cerebral cortex An astrocyte of the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T06:57:36Z cell owl:Class MONDO:0014442 biolink:NamedThing Bardet-Biedl syndrome 14 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|BBS14 OMIM:615991|MESH:C567141|DOID:0110136|UMLS:C2673874|ICD10:Q87.89 owl:Class HGNC:9204 biolink:NamedThing PON1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010965 biolink:NamedThing autosomal recessive nonsyndromic deafness 6 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene. tmpak2llvmy_mondo_relaxed.owl neurosensory nonsyndromic recessive deafness 6|autosomal recessive nonsyndromic deafness 6|autosomal recessive deafness 6|autosomal recessive nonsyndromic deafness type 6|deafness, autosomal recessive type 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|TMIE autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 6|DFNB6 UMLS:C1832992|MESH:C563418|ICD10:H90.3|DOID:0110512|OMIM:600971 owl:Class MONDO:0012195 biolink:NamedThing arthrogryposis-severe scoliosis syndrome Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. tmpak2llvmy_mondo_relaxed.owl arthrogryposis with Severe scoliosis|distal arthrogryposis type IID|distal arthrogryposis type 4|arthrogryposis, distal, type 2D|arthrogryposis, distal, type 4|DA4 Orphanet:65720|UMLS:C1836756|OMIM:609128|SCTID:715575001|MESH:C563791|ICD10:Q68.8 owl:Class HGNC:6572 biolink:NamedThing LGI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018656 biolink:NamedThing tremor-ataxia-central hypomyelination syndrome tmpak2llvmy_mondo_relaxed.owl tach syndrome UMLS:CN237714|Orphanet:447896|ICD10:E75.2 owl:Class MONDO:0023041 biolink:NamedThing ectodermal dysplasia Berlin type tmpak2llvmy_mondo_relaxed.owl GARD:0002044 https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type owl:Class MONDO:0004057 biolink:NamedThing micropapillary variant infiltrating bladder urothelial carcinoma An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003 tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, micropapillary variant NCIT:C27202|DOID:6976|UMLS:C1517579|EFO:0008512 owl:Class NCBITaxon:103826 biolink:NamedThing Thelazia tmpak2llvmy_mondo_relaxed.owl eyeworms GC_ID:1 ncbi_taxonomy owl:Class HGNC:11595 biolink:NamedThing TBX18 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904364 biolink:NamedThing positive regulation of calcitonin secretion Any process that activates or increases the frequency, rate or extent of calcitonin secretion. tmpak2llvmy_mondo_relaxed.owl upregulation of calcitonin secretion|up regulation of calcitonin secretion|up-regulation of calcitonin secretion|activation of calcitonin secretion owl:Class MONDO:0001413 biolink:NamedThing ulceroglandular tularemia A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. tmpak2llvmy_mondo_relaxed.owl UMLS:C0152941|ICD9:021.0|ICD10:A21.0|SCTID:37722001|DOID:11990 owl:Class MONDO:0037939 biolink:NamedThing porphyria Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. tmpak2llvmy_mondo_relaxed.owl porphyria SCTID:418470004 Represents both genetic and sporadic forms owl:Class HGNC:10023 biolink:NamedThing RIT1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042755 biolink:NamedThing eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. tmpak2llvmy_mondo_relaxed.owl eating behaviour owl:Class CHEBI:26155 biolink:NamedThing plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. tmpak2llvmy_mondo_relaxed.owl plant growth regulators owl:Class MONDO:0010918 biolink:NamedThing EIG1 tmpak2llvmy_mondo_relaxed.owl EIG|epilepsy, idiopathic generalized, susceptibility to, 1 SCTID:36803009|ICD9:345.10|MESH:C562694|OMIM:600669 owl:Class HGNC:7414 biolink:NamedThing MT-ATP6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006917 biolink:NamedThing posterior cerebral artery infarction Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). tmpak2llvmy_mondo_relaxed.owl EFO:1001118|MESH:D020762|UMLS:C0752132|DOID:3821 owl:Class UBERON:0004431 biolink:NamedThing proximal epiphysis of fifth metatarsal bone A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl base of fifth metatarsal bone|proximal epiphysis of metatarsal 5|proximal end of fifth metatarsal bone owl:Class MONDO:0007840 biolink:NamedThing internal carotid artery, spontaneous dissection of tmpak2llvmy_mondo_relaxed.owl internal carotid artery, spontaneous dissection of OMIM:147820|UMLS:C1840073|MESH:C564125 owl:Class CHEBI:25248 biolink:NamedThing methyl ester Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol. tmpak2llvmy_mondo_relaxed.owl carboxylic acid methyl ester|carboxylic acid methyl esters owl:Class MONDO:0054654 biolink:NamedThing combined oxidative phosphorylation deficiency 32 tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 32|COXPD32 UMLS:C4540029|OMIM:617664|DOID:0111492 owl:Class MONDO:0020850 biolink:NamedThing intellectual disability, autosomal recessive 65 tmpak2llvmy_mondo_relaxed.owl MRT65|mental retardation, autosomal recessive 65|intellectual disability, autosomal recessive 65 OMIM:618109 owl:Class ENVO:01001242 biolink:NamedThing canopy A vegetation layer which is formed by a collection of individual plant crowns, themselves constituting part of the aboveground portion of a plant community. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016868 biolink:NamedThing partial deletion of chromosome 3 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 3|partial monosomy of chromosome 3 ICD10:Q93.5|Orphanet:261776 owl:Class MONDO:0009037 biolink:NamedThing craniosynostosis with anomalies of the cranial base and digits tmpak2llvmy_mondo_relaxed.owl craniosynostosis with anomalies of the cranial base and digits UMLS:C1857493|OMIM:218530|MESH:C565666 owl:Class MONDO:0012127 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. tmpak2llvmy_mondo_relaxed.owl limb-girdle muscular dystrophy type 2J|TTN autosomal recessive limb-girdle muscular dystrophy|LGMD2J|muscular dystrophy, limb-girdle, type 2J|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN GARD:0012534|DOID:0110283|Orphanet:140922|ICD10:G71.0|OMIM:608807|UMLS:C1837342|MESH:C563854 owl:Class UBERON:0003435 biolink:NamedThing pedal digit nerve A nerve that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl hind limb digit nerve|nerve of digit of terminal segment of free lower limb|foot digit nerve|nerve of digitus pedis|digitus pedis nerve|digit of foot nerve|nerve of terminal segment of free lower limb digit|nerve of toe|nerve of digit of foot|terminal segment of free lower limb digit nerve|digit of terminal segment of free lower limb nerve|nerve of foot digit|toe nerve owl:Class FOODON:00002244 biolink:NamedThing snail food product tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012145 biolink:NamedThing Abnormality of multiple cell lineages in the bone marrow tmpak2llvmy_mondo_relaxed.owl UMLS:C4023024 peter 2012-09-16T08:21:57Z human_phenotype owl:Class HP:0005561 biolink:NamedThing Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. tmpak2llvmy_mondo_relaxed.owl Anomaly of the bone marrow cells|Bone marrow disease UMLS:C0005956|UMLS:C4021634|SNOMEDCT_US:127035006|MSH:D001855 peter 2008-03-27T10:46:00Z human_phenotype owl:Class GO:0046390 biolink:NamedThing ribose phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. tmpak2llvmy_mondo_relaxed.owl ribose phosphate synthesis|ribose phosphate anabolism|ribose phosphate biosynthesis|ribose phosphate formation owl:Class GO:0090407 biolink:NamedThing organophosphate biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001442 biolink:NamedThing dysthymic disorder A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. tmpak2llvmy_mondo_relaxed.owl dysthymia EFO:0008623|NCIT:C34562|MESH:D019263|SCTID:78667006|DOID:12139|ICD9:300.4|ICD10:F34.1 owl:Class MONDO:0044328 biolink:NamedThing short-rib thoracic dysplasia 20 with polydactyly Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 20 with polydactyly|SRTD20 OMIM:617925|UMLS:CN902090 owl:Class HP:0001600 biolink:NamedThing Abnormality of the larynx An abnormality of the larynx. tmpak2llvmy_mondo_relaxed.owl Laryngeal abnormalities|Laryngeal anomalies UMLS:C4021777 human_phenotype owl:Class HP:0002087 biolink:NamedThing Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. tmpak2llvmy_mondo_relaxed.owl Upper respiratory tract issues|Abnormality of the upper respiratory tract UMLS:C4025727 human_phenotype owl:Class MONDO:0022644 biolink:NamedThing cardiac hydatid cysts with intracavitary expansion tmpak2llvmy_mondo_relaxed.owl Cardiac hydatidosis GARD:0000199 https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion owl:Class MONDO:0008814 biolink:NamedThing hyperargininemia Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. tmpak2llvmy_mondo_relaxed.owl hyperargininemia|arginase deficiency|Arg1 deficiency|argininemia|deficiency of canavanase ICD10:E72.2|MESH:D020162|UMLS:C0268548|ICD10:E72.21|MedDRA:10062695|DOID:9278|NCIT:C84568|OMIM:207800|Orphanet:90|SCTID:23501004|GARD:0005840 owl:Class MONDO:0011354 biolink:NamedThing situs inversus totalis with cystic dysplasia of kidneys and pancreas tmpak2llvmy_mondo_relaxed.owl situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios|situs inversus totalis with cystic dysplasia of kidneys and pancreas OMIM:603643|UMLS:C1863647|GARD:0008567|MESH:C536666 https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas owl:Class MONDO:0013283 biolink:NamedThing immunodeficiency, common variable, 3 tmpak2llvmy_mondo_relaxed.owl immunodeficiency, common variable, 3|immunodeficiency, common variable, type 3|CVID3|antibody deficiency due to CD19 defect UMLS:C3150738|OMIM:613493 owl:Class MONDO:0014381 biolink:NamedThing cholestasis, progressive familial intrahepatic, 4 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. tmpak2llvmy_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, type 4|TJP2 progressive familial intrahepatic cholestasis|TJP2 deficit|progressive familial intrahepatic cholestasis 4|progressive familial intrahepatic cholestasis type 4|PFIC4|cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis caused by mutation in TJP2|cholestasis, progressive familial intrahepatic 4 GARD:0009803|Orphanet:480483|UMLS:CN776838|OMIM:615878|UMLS:C2931067|DOID:0070224 MONDO:0018803 owl:Class MONDO:0033642 biolink:NamedThing neurodevelopmental disorder with alopecia and brain abnormalities tmpak2llvmy_mondo_relaxed.owl NEDABA OMIM:619075 owl:Class MONDO:0006612 biolink:NamedThing steroid lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. tmpak2llvmy_mondo_relaxed.owl steroid lipomatosis UMLS:C1336506|EFO:1000769|NCIT:C27487|DOID:3925 owl:Class HGNC:7193 biolink:NamedThing MOCS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019943 biolink:NamedThing hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. tmpak2llvmy_mondo_relaxed.owl continuous muscle fiber activity hereditary UMLS:C1834559|GARD:0001512|Orphanet:972|ICD10:G71.1 https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary owl:Class NCIT:C35886 biolink:NamedThing Morphologic Architectural Pattern tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C35867 biolink:NamedThing Morphologic Finding tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013585 biolink:NamedThing hydrolethalus syndrome 2 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. tmpak2llvmy_mondo_relaxed.owl hydrolethalus syndrome 2|hydrolethalus syndrome caused by mutation in KIF7|HLS2|KIF7 hydrolethalus syndrome|hydrolethalus syndrome type 2 UMLS:C3279899|OMIM:614120|DOID:0111356 owl:Class NCBITaxon:2499403 biolink:NamedThing Tornidovirineae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:76804 biolink:NamedThing Nidovirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007389 biolink:NamedThing spondylocostal dysostosis 5 Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene. tmpak2llvmy_mondo_relaxed.owl spondylocostal dysostosis caused by mutation in TBX6|polydysspondyly|SCDO5|TBX6 spondylocostal dysostosis|scoliosis, congenital, with or without rib anomalies|spondylocostal dysplasia|spondylocostal dysostosis type 5|costovertebral segmentation anomalies|spondylothoracic dysostosis|spondylocostal dysostosis 5 UMLS:C4083048|OMIM:122600|GARD:0012806 May be AD or AR owl:Class MONDO:0008332 biolink:NamedThing pseudo-von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. tmpak2llvmy_mondo_relaxed.owl BDPLT3|pseudo-VON WILLEBRAND disease|Platelet-type von Willebrand disease|VWDP|PT-VWD|Von Willebrand disease, platelet type|pseudo-von Willebrand disease type 2B|platelet type-von Willebrand disease|Platelet type-von Willebrand disease|bleeding disorder, Platelet-type, 3|platelet-type bleeding disorder 3|Von Willebrand disease, Platelet-type|pseudo-von Willebrand disease|von Willebrand disease platelet-type MESH:C536458|DOID:0111056|NCIT:C131681|ICD10:D69.8|GARD:0008312|OMIM:177820|Orphanet:52530 Editor note: check relationship to vWD owl:Class MONDO:0016307 biolink:NamedThing Niemann-Pick disease type C, severe early infantile neurologic onset tmpak2llvmy_mondo_relaxed.owl UMLS:CN201113|Orphanet:216975|ICD10:E75.2 owl:Class MONDO:0012882 biolink:NamedThing major affective disorder 9 tmpak2llvmy_mondo_relaxed.owl MAJOR affective disorder 9|major affective disorder 9|MAFD9|bipolar affective disorder MESH:C567531|OMIM:612372 owl:Class MONDO:0003137 biolink:NamedThing diffuse glomerulonephritis Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. tmpak2llvmy_mondo_relaxed.owl DOID:4781|UMLS:C0859036|NCIT:C35799 owl:Class MONDO:0007248 biolink:NamedThing hereditary painful callosities Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. tmpak2llvmy_mondo_relaxed.owl Plamoplantar hyperkeratosis nummularis|callosities, painful plantar|keratosis palmoplantaris nummularis|PPK nummularis|callosities, hereditary painful|Plamoplantar keratoderma nummularis ICD10:Q82.8|MESH:C566180|OMIM:114140|Orphanet:79141|UMLS:C1861964 owl:Class MONDO:0017187 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form ICD10:E16.1|Orphanet:276598 owl:Class MONDO:0009594 biolink:NamedThing metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl metaphyseal chondrodysplasia, Kaitila type OMIM:250230|UMLS:C1855217|MESH:C565400|Orphanet:166038 owl:Class NCBITaxon:2560319 biolink:NamedThing Avian orthoavulavirus 1 tmpak2llvmy_mondo_relaxed.owl Avian paramyxovirus type-1|Newcastle disease virus NDV|Avian paramyxovirus type 1|Avian avulavirus 1|Newcastle disease virus|NDV|Avian Paramyxovirus Serotype I|avian paramyxovirus 1 GC_ID:1 NCBITaxon:11176 ncbi_taxonomy owl:Class NCBITaxon:2560194 biolink:NamedThing Orthoavulavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007970 biolink:NamedThing melorheostosis Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. tmpak2llvmy_mondo_relaxed.owl melorheostosis, isolated|Mel OMIM:155950|GARD:0009474|DOID:4253|MedDRA:10050284|SCTID:44697002|ICD9:756.89|UMLS:C0025239|NCIT:C84887|Orphanet:2485|MESH:D008557|ICD10:M85.8 https://rarediseases.info.nih.gov/diseases/9474/melorheostosis owl:Class HGNC:5166 biolink:NamedThing HPV18I1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025691 biolink:NamedThing dystonia 30 tmpak2llvmy_mondo_relaxed.owl DYT30 OMIM:619291 owl:Class NCBITaxon:10244 biolink:NamedThing Monkeypox virus tmpak2llvmy_mondo_relaxed.owl monkey pox virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019529 biolink:NamedThing radiation myelitis A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation. tmpak2llvmy_mondo_relaxed.owl delayed radiation myelopathy|radiation myelopathy SCTID:26037005|ICD10:G97.8|Orphanet:90021|ICD9:336.8 owl:Class MONDO:0006498 biolink:NamedThing adenomatous colon polyp A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous. tmpak2llvmy_mondo_relaxed.owl colon adenomatous polyp|colonic adenomatous polyp|adenomatous polyp of colon|adenomatous polyp of the colon NCIT:C96479|SCTID:428054006|HP:0005227|EFO:1000633 owl:Class UBERON:0010417 biolink:NamedThing lymph node T cell domain The paracortex and interfollicular cortex of the lymph node in which T lymphocytes home to survey dendritic cells tmpak2llvmy_mondo_relaxed.owl lymph node T-cell domain|lymph node deep cortex|T zone of lymph node|lymph node T zone|lymph node T cell dependent paracortex|T cell zone of lymph node owl:Class MONDO:0009527 biolink:NamedThing lipase deficiency, combined A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. tmpak2llvmy_mondo_relaxed.owl LPL and HTGL deficiency|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|lipase deficiency combined|LPL and HL deficiency|combined lipase deficiency|lipase deficiency, combined UMLS:C1855498|NCIT:C126558|DOID:0111422|MESH:C535904|OMIM:246650|Orphanet:535453|GARD:0010244 https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined owl:Class CL:0000507 biolink:NamedThing endorphin secreting cell A peptide hormone secreting cell that secretes endorphin. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0014634 biolink:NamedThing 46,XY sex reversal 10 tmpak2llvmy_mondo_relaxed.owl 46,XY sex reversal 10|chromosome 17Q24 deletion syndrome|SRXY10|46,XY SEX reversal 10|46,XY Sex reversal type 10 OMIM:616425|DOID:0111775|UMLS:C4225331 owl:Class MONDO:0100384 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13.1) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;19)(q23;p13.1) owl:Class MONDO:0009886 biolink:NamedThing pleoconial myopathy with salt craving tmpak2llvmy_mondo_relaxed.owl pleoconial myopathy with salt craving UMLS:C1849773|MESH:C564883|GARD:0010318|OMIM:262900 https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving owl:Class FOODON:03411998 biolink:NamedThing decapod The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017417 biolink:NamedThing renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. tmpak2llvmy_mondo_relaxed.owl Ivemark II syndrome|Renohepaticopancreatic dysplasia|Ivemark's syndrome Orphanet:294415|SCTID:763891005|DOID:0060259|UMLS:C2673883|OMIMPS:208540 owl:Class MONDO:0010985 biolink:NamedThing epilepsy, familial adult myoclonic, 1 tmpak2llvmy_mondo_relaxed.owl epilepsy, familial ADULT myoclonic, 1|FAME1|benign adult familial myoclonic epilepsy 1|cortical myoclonic tremor with epilepsy, familial, 1 DOID:0111690|UMLS:C1832841|OMIM:601068|MESH:C563399 owl:Class CHEBI:52090 biolink:NamedThing methoxide An organic anion that is the conjugate base of methanol. tmpak2llvmy_mondo_relaxed.owl methoxide ion owl:Class MONDO:0019533 biolink:NamedThing paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. tmpak2llvmy_mondo_relaxed.owl hemoglobinuria paroxysmal cold|Donath-Landsteiner hemolytic anemia|PCH|Donath-Landsteiner syndrome Orphanet:90035|SCTID:127057004|ICD10:D59.6|GARD:0007335 owl:Class MONDO:0017514 biolink:NamedThing split foot, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q72.7|ICD10:Q72.73|Orphanet:295126 owl:Class MONDO:0024302 biolink:NamedThing internal hirudiniasis A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx. tmpak2llvmy_mondo_relaxed.owl ICD10:B83.4|UMLS:C0348999|SCTID:187227006 owl:Class UBERON:0035804 biolink:NamedThing future mouth The primordial mouth region of the developing head. tmpak2llvmy_mondo_relaxed.owl primitive mouth|primordial mouth owl:Class FOODON:00003402 biolink:NamedThing pre-harvest food material Organic food material which has not reached harvestable maturity. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030860 biolink:NamedThing neuronopathy, distal hereditary motor, type 5C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene. tmpak2llvmy_mondo_relaxed.owl HMN5C|spinal muscular atrophy, distal, type 5C|DHMN5C|neuropathy, distal hereditary motor, type VC OMIM:619112 owl:Class MONDO:0100350 biolink:NamedThing neuronopathy, distal hereditary motor, type 5 tmpak2llvmy_mondo_relaxed.owl distal HMN V|distal hereditary motor neuropathy type V|dHMN5|distal spinal muscular atrophy type 5 Orphanet:139536 http://orcid.org/0000-0001-5208-3432 owl:Class SO:0001508 biolink:NamedThing alteration_attribute An attribute of alteration of one or more chromosomes. tmpak2llvmy_mondo_relaxed.owl alteration attribute owl:Class SO:0000733 biolink:NamedThing feature_attribute An attribute describing a located_sequence_feature. tmpak2llvmy_mondo_relaxed.owl feature attribute owl:Class MONDO:0011888 biolink:NamedThing immunodeficiency 67 An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. tmpak2llvmy_mondo_relaxed.owl IRAK-4 deficiency|invasive pneumococcal disease, recurrent isolated, type 1|invasive pneumococcal disease, protection against|Interleukin receptor-associated kinase deficiency|immunodeficiency 67|IRAK4 deficiency|IRAK4D|IPD1|invasive pneumococcal disease, recurrent isolated, 1|immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency GARD:0010311|MESH:C564352|UMLS:C1843256|ICD10:D84.8|MESH:C563662|Orphanet:70592|OMIM:607676|UMLS:C1835828|OMIM:610799 owl:Class MONDO:0017200 biolink:NamedThing polycystic ovaries-urethral sphincter dysfunction syndrome Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries. tmpak2llvmy_mondo_relaxed.owl voiding dysfunction and polycystic ovaries|fowler-Christmas-Chapple syndrome|fowler Christmas Chapple syndrome|fowler's syndrome|polycystic ovaries urethral sphincter dysfunction Orphanet:2795|GARD:0002365|MESH:C537271|UMLS:C2931462 owl:Class GO:0002689 biolink:NamedThing negative regulation of leukocyte chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. tmpak2llvmy_mondo_relaxed.owl down-regulation of leukocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|negative regulation of immune cell chemotaxis|negative regulation of leucocyte chemotaxis owl:Class MONDO:0001244 biolink:NamedThing vitamin K deficiency hemorrhagic disease Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. tmpak2llvmy_mondo_relaxed.owl vitamin K deficiency|vitamin K deficiency coagulation disorder|deficiency of vitamin K MESH:D014813|ICD9:269.0|SCTID:52675005|UMLS:C0042880|ICD10:E56.1|UMLS:C0272348|NCIT:C99108|DOID:11249 owl:Class UBERON:0025261 biolink:NamedThing thalamic fiber tract tmpak2llvmy_mondo_relaxed.owl thalamic fiber tracts owl:Class UBERON:0001140 biolink:NamedThing renal vein Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. tmpak2llvmy_mondo_relaxed.owl vein of kidney|kidney vein|renal venous tree|venae renales owl:Class MONDO:0006784 biolink:NamedThing hemorrhagic disease of newborn A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. tmpak2llvmy_mondo_relaxed.owl vitamin K deficiency bleeding in newborn|hemorrhagic disease of newborn EFO:1000964|MedDRA:10019601|ICD9:776.0|MESH:D006475|SCTID:12546009|ICD10:P53|NCIT:C111857 owl:Class CHEBI:167559 biolink:NamedThing glycan Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. tmpak2llvmy_mondo_relaxed.owl glycans owl:Class HGNC:794 biolink:NamedThing ATIC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006085 biolink:NamedThing angiolipoma A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. tmpak2llvmy_mondo_relaxed.owl angiolipoma, benign DOID:3616|UMLS:C0206632|MESH:D018206|ICDO:8861/0|EFO:1000085|NCIT:C3733|SCTID:404057003 owl:Class MONDO:0022880 biolink:NamedThing corticobasal degeneration tmpak2llvmy_mondo_relaxed.owl cortical basal ganglionic degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia SCTID:18842008 owl:Class MONDO:0021284 biolink:NamedThing carcinoma in situ of ureter A in situ carcinoma that involves the ureter. tmpak2llvmy_mondo_relaxed.owl stage 0is ureter urothelial carcinoma|stage 0 ureter carcinoma|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|stage 0is ureter cancer aJCC v7|ureter cancer stage 0is|stage 0is ureteral carcinoma|carcinoma in situ of ureter|stage 0is ureter carcinoma|ureter in situ carcinoma|carcinoma in situ of the ureter|stage 0is ureter urothelial carcinoma aJCC v7|ureter carcinoma in situ|ureteral carcinoma in situ|stage 0is ureter cancer|stage 0is carcinoma of the ureter SCTID:92782006|UMLS:C0346267|NCIT:C4529|ICD9:233.9 owl:Class HGNC:619 biolink:NamedThing APOL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013054 biolink:NamedThing microcephaly, growth retardation, cataract, hearing loss, and unusual appearance tmpak2llvmy_mondo_relaxed.owl microcephaly, growth retardation, cataract, hearing loss, and unusual appearance MESH:C567849|UMLS:C2751870|OMIM:612947 owl:Class MONDO:0010189 biolink:NamedThing vitiligo, progressive, with intellectual disability and urethral duplication tmpak2llvmy_mondo_relaxed.owl vitiligo, progressive, with intellectual disability and urethral duplication|vitiligo, progressive, with mental retardation and urethral duplication UMLS:C1848532|MESH:C564739|OMIM:277465 owl:Class MONDO:0011000 biolink:NamedThing guanylate cyclase 2E tmpak2llvmy_mondo_relaxed.owl Gucy2D, mouse, homolog of|GUCY2EP|GC-E|guanylate cyclase 2E|guanylate cyclase 2E, pseudogene|GUCY2E|guanylyl cyclase, Membrane, type E|guanylate cyclase type 2E OMIM:601138 owl:Class MONDO:0007746 biolink:NamedThing orthostatic hypotensive disorder, Streeten type tmpak2llvmy_mondo_relaxed.owl hyperbradykininism|orthostatic hypotensive disorder, Streeten type|orthostatic hypotensive disorder|OHDS MESH:C564174|UMLS:C1840438|OMIM:143850 owl:Class GO:0050891 biolink:NamedThing multicellular organismal water homeostasis Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. tmpak2llvmy_mondo_relaxed.owl body fluid osmoregulation owl:Class NCIT:C12913 biolink:NamedThing Abnormal Cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019786 biolink:NamedThing severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.8|Orphanet:94066 owl:Class MONDO:0007774 biolink:NamedThing hyperreflexia An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. tmpak2llvmy_mondo_relaxed.owl hyperreflexia (disease)|hyperreflexia|HRX hyperreflexia (disease) HP:0001347|OMIM:145290|MESH:D012021 owl:Class MONDO:0008598 biolink:NamedThing trichodysplasia-xeroderma syndrome Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl trichodysplasia-xeroderma|trichodysplasia xeroderma GARD:0005261|UMLS:C1860822|OMIM:190360|Orphanet:3361|MESH:C566032 owl:Class MONDO:0100197 biolink:NamedThing parainfluenza infectious disease A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults. tmpak2llvmy_mondo_relaxed.owl parainfluenza infectious disorder|human parainfluenza virus infectious disorder|human parainfluenza viruses infectious disorder|HPIV infectious disorder|parainfluenza (disorder) OMOP:4008269 Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class UBERON:0022288 biolink:NamedThing surface of eyeball tmpak2llvmy_mondo_relaxed.owl surface of region of wall of eyeball owl:Class MONDO:0010109 biolink:NamedThing tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities tmpak2llvmy_mondo_relaxed.owl Madokoro Ohdo Sonoda syndrome|tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality GARD:0003348|OMIM:273390|GARD:0005146|MESH:C536496 https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome|https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities owl:Class HP:0000315 biolink:NamedThing Abnormality of the orbital region tmpak2llvmy_mondo_relaxed.owl Deformity of the orbital region of the face|Abnormality of the region around the eyes|Anomaly of the orbital region of the face|Abnormality of the eye region|Malformation of the orbital region of the face UMLS:C4025863 HP:0000284 human_phenotype owl:Class MONDO:0016417 biolink:NamedThing congenital ichthyosis-microcephalus-tetraplegia syndrome tmpak2llvmy_mondo_relaxed.owl congenital ichthyosis-microcephalus-quadriplegia syndrome Orphanet:2271|ICD10:Q87.8 owl:Class MONDO:0005599 biolink:NamedThing malignant epithelioid mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity. tmpak2llvmy_mondo_relaxed.owl epithelioid mesothelioma, malignant|epithelioid mesothelioma|epithelioid mesothelioma, malignant (morphologic abnormality)|epithelial mesothelioma|malignant epithelial mesothelioma UMLS:C0862312|ICDO:9052/3|EFO:0006452|NCIT:C7985|DOID:4489 owl:Class CHEBI:47857 biolink:NamedThing ureas tmpak2llvmy_mondo_relaxed.owl urea derivatives owl:Class UBERON:0003933 biolink:NamedThing cranial cartilage A cartilage element that is part of the cranial skeleton. tmpak2llvmy_mondo_relaxed.owl cranial cartilages|cranium cartilage|cartilage of cranium owl:Class MONDO:0013192 biolink:NamedThing spondyloarthropathy, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl SPDA3|spondyloarthropathy, susceptibility to, 3 OMIM:613238|DOID:0080605 owl:Class MONDO:0024512 biolink:NamedThing spondyloarthropathy, susceptibility to tmpak2llvmy_mondo_relaxed.owl SPDA UMLS:CN118840|OMIMPS:106300 owl:Class MONDO:0014328 biolink:NamedThing developmental and epileptic encephalopathy, 19 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene. tmpak2llvmy_mondo_relaxed.owl DEE19|early infantile epileptic encephalopathy caused by mutation in GABRA1|Early Infantile epileptic encephalopathy 19|EIEE19|epileptic encephalopathy, early infantile, type 19|GABRA1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 19 NCIT:C142802|UMLS:C3810400|DOID:0080431|OMIM:615744 owl:Class HGNC:4266 biolink:NamedThing GHRHR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023538 biolink:NamedThing Kaplowitz-Bodurtha syndrome tmpak2llvmy_mondo_relaxed.owl congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia MESH:C536893|UMLS:C2931361 owl:Class MONDO:0010076 biolink:NamedThing spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. tmpak2llvmy_mondo_relaxed.owl SEMDIT|spondyloepimetaphyseal dysplasia, Irapa type|SEMD, Irapa type UMLS:C0432213|ICD10:Q77.7|MESH:C562958|SCTID:717330004|Orphanet:93351|OMIM:271650 owl:Class UBERON:0005006 biolink:NamedThing mucosa of renal pelvis A mucosa that is part of a renal pelvis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl pelvis of ureter mucosa|mucous membrane of kidney pelvis|pelvis of ureter mucosa of organ|kidney pelvis organ mucosa|kidney pelvis mucous membrane|pelvis of ureter mucous membrane|organ mucosa of kidney pelvis|mucosa of organ of kidney pelvis|renal pelvis mucous membrane|renal pelvis mucosa of organ|mucosa of organ of pelvis of ureter|organ mucosa of renal pelvis|renal pelvic mucosa|organ mucosa of pelvis of ureter|mucosa of organ of renal pelvis|renal pelvis organ mucosa|kidney pelvis mucosa|renal pelvis mucosa|mucosa of pelvis of ureter|kidney pelvis mucosa of organ|pelvis of ureter organ mucosa|mucous membrane of renal pelvis|mucosa of kidney pelvis|tunica mucosa pelvis renalis|mucous membrane of pelvis of ureter owl:Class MONDO:0009243 biolink:NamedThing Fraser-like syndrome tmpak2llvmy_mondo_relaxed.owl Fraser-like syndrome|Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies OMIM:229230|Orphanet:2051|UMLS:C1856708|MESH:C565562|UMLS:CN200837 owl:Class MONDO:0013170 biolink:NamedThing cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 tmpak2llvmy_mondo_relaxed.owl Urban-Rifkin-Davis syndrome|autosomal recessive cutis laxa type IC|ARCL1C|cutis laxa, autosomal recessive, type 1C|cutis laxa, autosomal recessive, type IC|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|autosomal recessive cutis laxa type 1C UMLS:C2750804|MESH:C567716|PMID:19836010|DOID:0070139|ICD10:Q82.8|Orphanet:221145|OMIM:613177 owl:Class MONDO:0012776 biolink:NamedThing celiac disease, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7|celiac disease, susceptibility to, 7 OMIM:612005 owl:Class MONDO:0019742 biolink:NamedThing late-onset nephronophthisis tmpak2llvmy_mondo_relaxed.owl ICD10:Q61.5|Orphanet:93589 owl:Class MONDO:0021488 biolink:NamedThing benign neoplasm of lacrimal gland A benign neoplasm that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl benign lacrimal gland neoplasm|benign lacrimal gland tumor|lacrimal gland benign neoplasm|benign tumor of the lacrimal gland|benign tumor of lacrimal gland|benign neoplasm of the lacrimal gland SCTID:92169007|NCIT:C3621|UMLS:C0154024|ICD9:224.2 owl:Class MONDO:0012069 biolink:NamedThing keratoconus 3 tmpak2llvmy_mondo_relaxed.owl keratoconus 3|KTCN3 UMLS:C1837809|OMIM:608586|MESH:C563900 owl:Class MONDO:0100016 biolink:NamedThing early-onset generalized dystonia tmpak2llvmy_mondo_relaxed.owl DYT-KMT2B|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.|early-onset generalized isolated dystonia|early-onset, generalized dystonia with mild syndromic features 2018-05-25 20:53:07+00:00 owl:Class MONDO:0007080 biolink:NamedThing glucocorticoid-remediable aldosteronism Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. tmpak2llvmy_mondo_relaxed.owl hyperaldosteronism, familial type 1|HALD1|dexamethasone sensitive hypertension|hyperaldosteronism, familial, type 1|FH1|glucocorticoid-suppressible hyperaldosteronism|familial hyperaldosteronism type 1|FH 1|glucocorticoid-sensitive hypertension|glucocorticoid-remediable aldosteronism|glucocorticoid sensitive hypertension|dexamethasone-sensitive hypertension|GRA|familial hyperaldosteronism type I|hyperaldosteronism, familial, type I|ACTH-dependent hyperaldosteronism syndrome|aldosteronism, sensitive to dexamethasone|FH-I UMLS:C3838731|GARD:0002790|OMIM:103900|ICD9:255.11|MESH:C563177|DOID:14080|ICD10:E26.02|ICD10:E26.0|Orphanet:403|UMLS:C1260386 https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism owl:Class HGNC:3700 biolink:NamedThing FH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0031003 biolink:NamedThing hypercholanemia, familial, 2 tmpak2llvmy_mondo_relaxed.owl NTCP Deficiency|FHCA2 OMIM:619256 owl:Class MONDO:0006480 biolink:NamedThing undifferentiated pleomorphic sarcoma, inflammatory variant An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. tmpak2llvmy_mondo_relaxed.owl inflammatory malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma, inflammatory variant|Xanthosarcoma|inflammatory MFH|malignant xanthogranuloma EFO:1000608|DOID:6192|NCIT:C6497|UMLS:C1334180 owl:Class MONDO:0003967 biolink:NamedThing synchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. tmpak2llvmy_mondo_relaxed.owl synchronous multifocal osteosarcoma NCIT:C6471|UMLS:C1336544|DOID:6696 owl:Class MONDO:0001882 biolink:NamedThing bacteriuria The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. tmpak2llvmy_mondo_relaxed.owl bacteriuria (disease)|bacteriuria bacteriuria (disease) CSP:3045-9976|UMLS:C0004659|HP:0012461|MedDRA:10004056|MESH:D001437|DOID:1412 owl:Class MONDO:0002061 biolink:NamedThing intraductal papillary breast neoplasm A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma. tmpak2llvmy_mondo_relaxed.owl intraductal papillary breast neoplasm NCIT:C36090|UMLS:C1334252|DOID:1628 owl:Class CHEBI:71300 biolink:NamedThing EC 2.* (transferase) inhibitor An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) tmpak2llvmy_mondo_relaxed.owl transferase inhibitor|transferase inhibitors|EC 2.* inhibitor|EC 2.* (transferase) inhibitors|EC 2.* inhibitors|EC 2 inhibitors|EC 2 inhibitor owl:Class MONDO:0009966 biolink:NamedThing NPHP3-related Meckel-like syndrome tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome, type 7|NPHP3-related Meckel-like syndrome|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|Goldston syndrome|Meckel syndrome type 7|MKS7|Meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Meckel syndrome 7|Meckel syndrome, type 7 PMID:18371931|UMLS:C2673885|MESH:C537756|ICD10:Q61.9|GARD:0004665|OMIM:267010|DOID:0070121|Orphanet:3032 https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia owl:Class MONDO:0019864 biolink:NamedThing tetrasomy 21 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. tmpak2llvmy_mondo_relaxed.owl Isochromosome 21|tetrasomy type 21 SCTID:764690001|Orphanet:96055|GARD:0012480|ICD10:Q99.8 https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 owl:Class MONDO:0003963 biolink:NamedThing diffuse infiltrative lymphocytosis syndrome This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. tmpak2llvmy_mondo_relaxed.owl diffuse infiltra. lymph. sydrome|diffuse infiltra. lymph. syndrome SCTID:449784008|UMLS:C1333292|NCIT:C35699|DOID:6677 owl:Class MONDO:0019208 biolink:NamedThing Bickerstaff brainstem encephalitis Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). tmpak2llvmy_mondo_relaxed.owl Orphanet:79138|ICD9:323.81|ICD10:G61.0|UMLS:C1960543|SCTID:427086003 owl:Class UBERON:0001350 biolink:NamedThing coccyx A collection of caudal vertebrae in the coccygeal region that are fused and part of the bony pelvis. tmpak2llvmy_mondo_relaxed.owl coccyx [vertebrae coccygeae I-IV]|coccyx [coccygeal vertebrae I-IV]|os coccygis|fused caudal vertebral column|tailbone|coccygeal skeleton|coccygeal vertebrae I-IV|fused caudal vertebrae owl:Class MONDO:0007225 biolink:NamedThing fibular aplasia-ectrodactyly syndrome Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. tmpak2llvmy_mondo_relaxed.owl brachydactyly-ectrodactyly with fibular aplasia or hypoplasia|fibular aplasia ectrodactyly MESH:C537930|UMLS:C1862100|Orphanet:1118|ICD10:Q73.8|OMIM:113310|GARD:0002331 owl:Class MONDO:0020856 biolink:NamedThing bone marrow failure syndrome 4 tmpak2llvmy_mondo_relaxed.owl BMFS4|BONE MARROW FAILURE SYNDROME 4 OMIM:618116 owl:Class HP:0012862 biolink:NamedThing Abnormal germ cell morphology Any structural anomaly of a reproductive cell. tmpak2llvmy_mondo_relaxed.owl Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell UMLS:C4022704 hecht 2014-06-09T10:01:49Z human_phenotype owl:Class HP:0012243 biolink:NamedThing Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. tmpak2llvmy_mondo_relaxed.owl Abnormal genital system morphology UMLS:C4021096 peter 2013-04-02T07:02:20Z human_phenotype owl:Class MONDO:0030069 biolink:NamedThing hyper-IgE recurrent infection syndrome 5, autosomal recessive tmpak2llvmy_mondo_relaxed.owl HIES5|hyper-IgE recurrent infection syndrome 5, autosomal recessive|HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE OMIM:618944 owl:Class HGNC:12363 biolink:NamedThing TSC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006638 biolink:NamedThing acute retinal necrosis syndrome Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. tmpak2llvmy_mondo_relaxed.owl acute retinal necrosis SCTID:231986000|MESH:D015882|EFO:1000795|DOID:3611|UMLS:C0035319 owl:Class GO:0031945 biolink:NamedThing positive regulation of glucocorticoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpak2llvmy_mondo_relaxed.owl positive regulation of glucocorticoid metabolism|up-regulation of glucocorticoid metabolic process|stimulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|upregulation of glucocorticoid metabolic process|up regulation of glucocorticoid metabolic process owl:Class NCBITaxon:2315720 biolink:NamedThing Trochida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014049 biolink:NamedThing urofacial syndrome 2 Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. tmpak2llvmy_mondo_relaxed.owl LRIG2 Ochoa syndrome|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome 2|urofacial syndrome type 2|UFS2 UMLS:C3554520|OMIM:615112 owl:Class MONDO:0019757 biolink:NamedThing alobar holoprosencephaly Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. tmpak2llvmy_mondo_relaxed.owl SCTID:253137003|Orphanet:93925|ICD10:Q04.2 owl:Class MONDO:0017038 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis tmpak2llvmy_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic vasculitis 2022-03-01 Orphanet:264973|UMLS:CN202349 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0008072 biolink:NamedThing IgA nephropathy, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl IGAN1|Igan|IgA nephropathy, susceptibility to, 1|nephritis, IgA type|glomerulonephritis, IgA|berger disease OMIM:161950|GARD:0000863 owl:Class MONDO:0010001 biolink:NamedThing ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities|RODRIGUES blindness MESH:C535865|GARD:0000293|Orphanet:1806|UMLS:C1849332|OMIM:268320|ICD10:Q87.8 owl:Class MONDO:0011604 biolink:NamedThing spondylo-ocular syndrome Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. tmpak2llvmy_mondo_relaxed.owl spondyloocular syndrome|SOS OMIM:605822|SCTID:715653007|ICD10:Q87.5|Orphanet:85194 owl:Class MONDO:0018670 biolink:NamedThing symptomatic form of fragile X syndrome in female carrier tmpak2llvmy_mondo_relaxed.owl Orphanet:449291|ICD10:Q99.2|UMLS:CN237736 owl:Class MONDO:0010914 biolink:NamedThing carnitine palmitoyl transferase II deficiency, severe infantile form The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. tmpak2llvmy_mondo_relaxed.owl CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, infantile|CPTII, hepatocardiomuscular form|CPTII, severe infantile form|Cpt2 deficiency, infantile|CPT2, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|carnitine palmitoyl transferase II deficiency, severe infantile form|CPT 2 deficiency, hepatic|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPT2, severe infantile form|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form UMLS:C1833511|OMIM:600649|Orphanet:228305|MESH:C563462|ICD10:E71.3 owl:Class UBERON:0011971 biolink:NamedThing calcaneofibular ligament A skeletal ligament that connects the fibula to the calcaneus tmpak2llvmy_mondo_relaxed.owl ligamentum calcaneofibulare owl:Class MONDO:0023671 biolink:NamedThing oculopharyngodistal myopathy 3 tmpak2llvmy_mondo_relaxed.owl OPDM3 OMIM:619473 owl:Class UBERON:0001622 biolink:NamedThing lacrimal artery The lacrimal artery arises close to the optic foramen, and is one of the largest branches derived from the ophthalmic artery: not infrequently it is given off before the artery enters the orbit. It accompanies the lacrimal nerve along the upper border of the Lateral Rectus, supplies the lacrimal gland. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl a. lacrimalis owl:Class MONDO:0020399 biolink:NamedThing congenital hypoplasia of the mitral valve annulus Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome. tmpak2llvmy_mondo_relaxed.owl ICD9:746.89|ICD10:Q23.2|UMLS:C3165203|Orphanet:99058|SCTID:449270002 owl:Class MONDO:0009406 biolink:NamedThing hypertrichotic osteochondrodysplasia Cantu type Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. tmpak2llvmy_mondo_relaxed.owl Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type|Craniofaciocardioskeletal syndrome|hypertrichotic osteochondrodysplasia DOID:0060569|GARD:0008585|SCTID:239087008|ICD10:Q87.3|MESH:C535572|Orphanet:1517|OMIM:239850|UMLS:C0795905 https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome owl:Class MONDO:0022178 biolink:NamedThing chromosome 13q-mosaicism tmpak2llvmy_mondo_relaxed.owl Mosiacism of chromosome 13q MESH:C535486|UMLS:CN037259 owl:Class HGNC:321 biolink:NamedThing AGL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020421 biolink:NamedThing coronary artery intramyocardial course tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99085 owl:Class GO:0048812 biolink:NamedThing neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. tmpak2llvmy_mondo_relaxed.owl neurite formation|neurite biosynthesis|neurite growth|neurite morphogenesis owl:Class CL:0019017 biolink:NamedThing lymphatic vessel smooth muscle cell A smooth muscle cell that is part of any lymphatic vessel. tmpak2llvmy_mondo_relaxed.owl smooth muscle cell of lymphatic vessel 2020-07-21 12:29:51+00:00 owl:Class GO:0042995 biolink:NamedThing cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon. tmpak2llvmy_mondo_relaxed.owl cell process|cellular process|cellular projection owl:Class FOODON:03412215 biolink:NamedThing mud crab family Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003326 biolink:NamedThing intermixed schwannian stroma-rich ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. tmpak2llvmy_mondo_relaxed.owl ganglioneuroblastoma, intermixed|ganglioneuroblastoma, intermixed (Schwannian Stroma-rich) NCIT:C42057|UMLS:C1517444|DOID:5194 owl:Class MONDO:0009743 biolink:NamedThing neurologic disease, infantile multisystem, with osseous fragility tmpak2llvmy_mondo_relaxed.owl neurologic disease, infantile multisystem, with osseous fragility UMLS:C1850465|MESH:C564954|OMIM:256720 owl:Class MONDO:0018899 biolink:NamedThing posterior cortical atrophy Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl Benson syndrome|PCA|biparietal Alzheimer disease ICD10:G31.1|Orphanet:54247|UMLS:CN205270|SCTID:715574002 owl:Class MONDO:0016979 biolink:NamedThing MRCS syndrome MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. tmpak2llvmy_mondo_relaxed.owl microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome Orphanet:263347 owl:Class MONDO:0011215 biolink:NamedThing osteocraniostenosis Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. tmpak2llvmy_mondo_relaxed.owl osteocraniostenosis|skeletal dysplasia lethal with gracile bones|GCLEB|gracile bone dysplasia|Osteocraniosplenic syndrome|skeletal dysplasia, lethal, with gracile bones|Habrodysplasia GARD:0003396|Orphanet:2763|UMLS:C1865639|MESH:C537291|ICD10:Q78.0|OMIM:602361|SCTID:722109008 owl:Class MONDO:0004064 biolink:NamedThing iris melanoma A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi. tmpak2llvmy_mondo_relaxed.owl malignant melanoma of the iris|melanoma of the iris|melanoma of iris|iris melanoma|malignant melanoma of iris|melanoma (disease) of iris|malignant iris melanoma|iris malignant melanoma|iris melanoma (disease) NCIT:C9088|SCTID:255012009|UMLS:CN204945|DOID:6994 MONDO:0021433 owl:Class MONDO:0023243 biolink:NamedThing glass-chapman-hockley syndrome The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl glass chapman hockley syndrome|craniosynostosis-dysmorphism-brachydactyly syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis brachydactyly UMLS:C4303810|SCTID:720814001|GARD:0002479|Orphanet:1535 https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome owl:Class GO:1900121 biolink:NamedThing negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpak2llvmy_mondo_relaxed.owl inhibition of receptor binding|down-regulation of receptor binding|downregulation of receptor binding|inhibition of receptor ligand|down regulation of receptor binding|down regulation of receptor-associated protein activity owl:Class MONDO:0005163 biolink:NamedThing simian immunodeficiency virus infection An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. tmpak2llvmy_mondo_relaxed.owl Simian immunodeficiency virus infectious disease|Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus disease or disorder EFO:0001675 owl:Class MONDO:0025369 biolink:NamedThing Nairobi sheep disease An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. tmpak2llvmy_mondo_relaxed.owl disease, Nairobi sheep|sheep disease, Nairobi MESH:D009265|UMLS:C0027345|SCTID:24069003 owl:Class SO:0000010 biolink:NamedThing protein_coding A gene which, when transcribed, can be translated into a protein. tmpak2llvmy_mondo_relaxed.owl protein-coding owl:Class SO:0000401 biolink:NamedThing gene_attribute An attribute describing a gene. tmpak2llvmy_mondo_relaxed.owl gene attribute owl:Class MONDO:0017949 biolink:NamedThing ABeta amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. tmpak2llvmy_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Arctic type|ABetaE22G amyloidosis|HCHWA, Arctic type|cerebral amyloid angiopathy, APP-related, Arctic variant ICD10:E85.4+|Orphanet:324723|ICD10:I68.0* owl:Class UBERON:8410019 biolink:NamedThing jejuno-ileal junction The area where the jejunum ends and the ileum part of the intestine begins. Although there is no clear distinct section, the ileum is narrower and has smaller villi than the jejunum. tmpak2llvmy_mondo_relaxed.owl jejunoileal junction owl:Class FOODON:03460225 biolink:NamedThing food component addition process tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0225 LanguaL curation note: A food product is characterized by its main ingredient (food source and part); the addition of secondary ingredients is considered a treatment applied to the product. Secondary ingredients are indexed according to rules that are based on the order of predominance by weight (not counting water) as seen from the label statement, formulation or recipe and/or from the amount of the ingredient as percentage of total product weight. The general rule is: an ingredient is always indexed if it is the second ingredient in order of predominance, if it is used as a filling, or if it is part of the product name(e.g., raisin bread). Specific rules are given in the scope note for the individual ingredient added; these rules specify more exhaustive indexing. For example, *MUSHROOM ADDED* is indexed regardless of ingredient position. another specific rule is given in the scope note for *SALTED*: Use if the level of salt is more than 4%. Such a rule is used only when the percentage level can be inferred from the list of ingredients. Damion Dooley owl:Class MONDO:0035004 biolink:NamedThing serine biosynthesis pathway deficiency, infantile/juvenile form tmpak2llvmy_mondo_relaxed.owl Orphanet:583595 owl:Class MONDO:0032860 biolink:NamedThing intellectual developmental disorder, autosomal recessive 72 tmpak2llvmy_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 72|MRT72|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 OMIM:618665 owl:Class MONDO:0018344 biolink:NamedThing periodic paralysis with transient compartment-like syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:397755|UMLS:CN226077|ICD10:G72.3 owl:Class HGNC:6295 biolink:NamedThing KCNQ1OT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23198 biolink:NamedThing CYP4V2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0032158 biolink:NamedThing Unusual infection by anatomical site An unusual infection classified by the affected body part. tmpak2llvmy_mondo_relaxed.owl 2018-12-09 12:17:59+00:00 peter human_phenotype owl:Class CL:0000339 biolink:NamedThing glioblast (sensu Vertebrata) An early neural cell developing from the early ependymal cell of the neural tube. tmpak2llvmy_mondo_relaxed.owl spongioblast FMA:70564 cell owl:Class NCBITaxon:2497569 biolink:NamedThing Negarnaviricota tmpak2llvmy_mondo_relaxed.owl Negative-strand RNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012550 biolink:NamedThing iris pattern tmpak2llvmy_mondo_relaxed.owl iris pattern OMIM:610744|UMLS:C1853115 owl:Class MONDO:0003045 biolink:NamedThing anal gland neoplasm Tumors or cancer of the anal gland. tmpak2llvmy_mondo_relaxed.owl gland of anal canal tumor|gland of anal canal neoplasm|tumor of gland of anal canal|neoplasm of gland of anal canal|gland of anal canal neoplasm (disease) DOID:4550|EFO:1000804|MESH:D000694|UMLS:C0002757 owl:Class MONDO:0016650 biolink:NamedThing paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpak2llvmy_mondo_relaxed.owl paternal uniparental disomy of chromosome type 1|UPD(1)pat ICD10:Q99.8|Orphanet:251004|SCTID:766719006 owl:Class MONDO:0043083 biolink:NamedThing coronal synostosis, syndactyly and jejunal atresia tmpak2llvmy_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia MESH:C536445|GARD:0001532|UMLS:C2931194 owl:Class MONDO:0012035 biolink:NamedThing craniosynostosis-intracranial calcifications syndrome Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism MESH:C564241|UMLS:C1842058|Orphanet:52054|OMIM:608432|SCTID:720816004|ICD10:Q87.0 owl:Class MONDO:0019933 biolink:NamedThing acromegaly Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. tmpak2llvmy_mondo_relaxed.owl Growth hormone excess|somatotroph adenoma|pituitary giant DOID:2449|GARD:0005725|SCTID:74107003|UMLS:C0001206|EFO:1001485|MedDRA:10000599|MESH:D000172|NCIT:C84533|Orphanet:963|ICD10:E22.0 https://rarediseases.info.nih.gov/diseases/5725/acromegaly owl:Class CL:1000484 biolink:NamedThing Purkinje myocyte of atrioventricular bundle A Purkinje myocyte that is part of the atrioventricular bundle. tmpak2llvmy_mondo_relaxed.owl FMA:83393 cell owl:Class MONDO:0001903 biolink:NamedThing calcific tendinitis tmpak2llvmy_mondo_relaxed.owl ICD9:726.11|ICD10:M65.2|SCTID:95414005|ICD10:M75.3|DOID:14181|UMLS:C0521515 owl:Class OBO:CHR_9606-chr8q22.1 biolink:NamedThing chr8q22.1 (Human) tmpak2llvmy_mondo_relaxed.owl 97900000 92300000 hg38 owl:Class MONDO:0007135 biolink:NamedThing nonsyndromic congenital nail disorder 6 tmpak2llvmy_mondo_relaxed.owl anonychia/hyponychia and onychodystrophy|anonychia, partial|nonsyndromic congenital nail disorder type 6|onychodystrophy-anonychia|NDNC6|absent nails and dystrophic nails|nail disorder, nonsyndromic congenital, 6 GARD:0000710|DOID:0080084|OMIM:107000 owl:Class MONDO:0015312 biolink:NamedThing choanal atresia, unilateral Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. tmpak2llvmy_mondo_relaxed.owl ICD10:Q30.0|Orphanet:137917|UMLS:CN199280 owl:Class MONDO:0011777 biolink:NamedThing Alzheimer disease 8 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. tmpak2llvmy_mondo_relaxed.owl Ad8|Alzheimer disease, familial, 8|Alzheimer's disease 8|Alzheimer's disease type 8|AD8|Alzheimer disease 8|Alzheimer disease type 8|Alzheimer disease, familial 8 OMIM:607116|MESH:C564622|UMLS:C1846735|ICD10:G30|DOID:0110041 owl:Class MONDO:0041996 biolink:NamedThing thallium poisoning tmpak2llvmy_mondo_relaxed.owl thallium poisoning SCTID:51040009 owl:Class MONDO:0021324 biolink:NamedThing malignant neoplasm of abdominal esophagus A cancer that involves the abdominal part of esophagus. tmpak2llvmy_mondo_relaxed.owl malignant tumor of the abdominal esophagus|cancer of abdominal part of esophagus|abdominal part of esophagus cancer|malignant neoplasm of the abdominal esophagus|malignant neoplasm of abdominal part of esophagus|malignant abdominal part of esophagus neoplasm ICD9:150.2|SCTID:187724003|NCIT:C4764|UMLS:C0496775 owl:Class MONDO:0015192 biolink:NamedThing unclassified intestinal pseudoobstruction tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:104078|ICD10:K59.8|UMLS:CN197532 Reason: out of scope. Term to consider: MONDO_0017574. MONDO:0017574 owl:Class MONDO:0012055 biolink:NamedThing Larsen-like osseous dysplasia-short stature syndrome Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. tmpak2llvmy_mondo_relaxed.owl Larsen-like syndrome|Lrsl MESH:C563914|UMLS:C1837884|Orphanet:2370|ICD10:Q74.8|OMIM:608545 owl:Class CHEBI:38179 biolink:NamedThing monocyclic heteroarene tmpak2llvmy_mondo_relaxed.owl monocyclic heteroarenes owl:Class MONDO:0007310 biolink:NamedThing Charcot-Marie-Tooth disease, Guadalajara neuronal type tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, Guadalajara neuronal type MESH:C566137|OMIM:118230|UMLS:C1861673 Editor note: consider relationship to type 2 owl:Class NCBITaxon:6314 biolink:NamedThing Trichostrongyloidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032935 biolink:NamedThing rhizomelic limb shortening with dysmorphic features tmpak2llvmy_mondo_relaxed.owl RLSDF|RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM:618821 owl:Class MONDO:0003904 biolink:NamedThing lung occult squamous cell carcinoma A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpak2llvmy_mondo_relaxed.owl occult squamous cell lung carcinoma|occult squamous cell carcinoma of lung|occult squamous cell carcinoma of the lung DOID:6510|NCIT:C6686|UMLS:C1335100 owl:Class MONDO:0005097 biolink:NamedThing squamous cell lung carcinoma A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of the lung|squamous cell lung carcinoma|epidermoid cell lung carcinoma|squamous cell lung cancer|epidermoid cell carcinoma of lung|squamous cell carcinoma of lung|epidermoid cell carcinoma of the lung|lung squamous cell carcinoma ICD9:162.9|ONCOTREE:LUSC|DOID:3907|NCIT:C3493|UMLS:C0149782|SCTID:254634000|EFO:0000708 In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC owl:Class NCIT:C15290 biolink:NamedThing Ostomy tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11431 biolink:NamedThing STX16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009771 biolink:NamedThing oculotrichodysplasia Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl oculotrichodysplasia|OTD|Cecato de Lima-Pinheiro syndrome MESH:C564934|SCTID:722062004|OMIM:257960|UMLS:C1850332|Orphanet:2718 owl:Class GO:0022890 biolink:NamedThing inorganic cation transmembrane transporter activity Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl di-, tri-valent inorganic cation transmembrane transporter activity|monovalent inorganic cation transmembrane transporter activity|divalent inorganic cation transmembrane transporter activity|trivalent inorganic cation transmembrane transporter activity owl:Class MONDO:0020446 biolink:NamedThing coronary sinus stenosis tmpak2llvmy_mondo_relaxed.owl ICD10:Q21.1|Orphanet:99117 owl:Class UBERON:0001260 biolink:NamedThing serosa of urinary bladder A serous membrane that is part of a urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tunica serosa (vesica urinaria)|urinary bladder serosa|serous membrane of urinary bladder|bladder serous membrane|tunica serosa vesicae|serosa of bladder|serous coat of bladder|serous coat of urinary bladder|visceral peritoneum of urinary bladder|urinary bladder serous membrane|bladder serosa|serous membrane of bladder owl:Class MONDO:0001514 biolink:NamedThing prolapse of urethra Prolapse of the urethral mucosa from the exterior urethral opening. tmpak2llvmy_mondo_relaxed.owl urethrocele ICD10:N81.0|SCTID:12068006|UMLS:C0238502|ICD9:618.03|DOID:12369|ICD9:599.5 owl:Class MONDO:0025425 biolink:NamedThing hepatitis, infectious canine A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea. tmpak2llvmy_mondo_relaxed.owl canine Hepatitis, infectious|canine infectious Hepatitides|Hepatitis, canine infectious|infectious Hepatitides, canine|infectious Hepatitis, canine|canine infectious Hepatitis|Hepatitides, canine infectious|canine Hepatitides, infectious|infectious canine Hepatitides|infectious canine Hepatitis|Hepatitides, infectious canine MESH:D006522 owl:Class MONDO:0010397 biolink:NamedThing severe neonatal-onset encephalopathy with microcephaly An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. tmpak2llvmy_mondo_relaxed.owl severe neonatal encephalopathy due to MECP2 mutations|severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations Orphanet:209370|ICD10:Q02|OMIM:300673|UMLS:C1968556|MESH:C566878|NCIT:C132293 owl:Class MONDO:0009604 biolink:NamedThing methemoglobin reductase deficiency tmpak2llvmy_mondo_relaxed.owl methemoglobin reductase deficiency|TPNH-methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency MESH:C563171|SCTID:234397008|UMLS:C0472786|OMIM:250700 owl:Class GO:0033363 biolink:NamedThing secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. tmpak2llvmy_mondo_relaxed.owl secretory granule organisation|secretory granule organization and biogenesis owl:Class MONDO:0045052 biolink:NamedThing benign osteogenic neoplasm A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma. tmpak2llvmy_mondo_relaxed.owl benign osseous tumor|benign osteogenic neoplasm|benign osteogenic tumor|benign osseous neoplasm|osteogenic neoplasm, benign NCIT:C6602 owl:Class MONDO:0043975 biolink:NamedThing autonomic dysreflexia A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) tmpak2llvmy_mondo_relaxed.owl Dysreflexias, spinal autonomic|Dysreflexia, spinal autonomic|Dysreflexia, autonomic|Dysreflexias, autonomic|autonomic Dysreflexias, spinal|hyperreflexias, autonomic|spinal autonomic Dysreflexia|autonomic Dysreflexia, spinal|autonomic Hyperreflexias|dysreflexia|autonomic hyperreflexia|spinal autonomic Dysreflexias|autonomic Dysreflexias|hyperreflexia, autonomic|autonomic dysreflexia MESH:D020211|EFO:1001762|UMLS:C0238015|SCTID:129618003 owl:Class UBERON:0007134 biolink:NamedThing trunk ganglion Ganglion which is located in the trunk. tmpak2llvmy_mondo_relaxed.owl body ganglion|trunk ganglia owl:Class MONDO:0007205 biolink:NamedThing diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). tmpak2llvmy_mondo_relaxed.owl diaphyseal medullary stenosis-bone malignancy syndrome|Hardcastle's syndrome|diaphyseal medullary stenosis with malignant fibrous histiocytoma|Hardcastle syndrome|DMSMFH|bone dysplasia with malignant fibrous histiocytoma|myopathy, limb-girdle, with bone fragility|BDMF|bone dysplasia with medullary fibrosarcoma|DMS-MFH|bone dysplasia-medullary fibrosarcoma syndrome|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome Orphanet:85182|NCIT:C122660|ICD10:M89.8|GARD:0010072|UMLS:C1862177|OMIM:112250 owl:Class NCBITaxon:10911 biolink:NamedThing Coltivirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011844 biolink:NamedThing myoclonic dystonia 15 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. tmpak2llvmy_mondo_relaxed.owl DYT15|dystonia 15, myoclonic|myoclonic dystonia type 15 OMIM:607488|DOID:0090035|UMLS:C1843786|Orphanet:210566|MESH:C538002 owl:Class MONDO:0033558 biolink:NamedThing autoinflammation, immune dysregulation, and eosinophilia tmpak2llvmy_mondo_relaxed.owl AIIDE|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA|Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia OMIM:618999 owl:Class GO:0005766 biolink:NamedThing primary lysosome A lysosome before it has fused with a vesicle or vacuole. tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:8000011 biolink:NamedThing external import ontology module An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach. tmpak2llvmy_mondo_relaxed.owl external import external import ontology module owl:Class MONDO:0017177 biolink:NamedThing hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. tmpak2llvmy_mondo_relaxed.owl HHML ICD10:Q87.3|UMLS:CN202613|Orphanet:276280 owl:Class MONDO:0007590 biolink:NamedThing hemifacial hypertrophy Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. tmpak2llvmy_mondo_relaxed.owl facial asymmetry|hemifacial hyperplasia|facial hemihypertrophy|hemifacial hypertrophy Orphanet:141145|UMLS:C1399354|OMIM:133900|ICD10:Q67.4 owl:Class MONDO:0003246 biolink:NamedThing sclerosing hepatic carcinoma An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. tmpak2llvmy_mondo_relaxed.owl sclerosing hepatic carcinoma|scirrhous hepatocellular carcinoma|sclerosing hepatocellular carcinoma|scirrhous hepatocellular cancer DOID:5026|NCIT:C27388|ICDO:8172/3|UMLS:C1266018 owl:Class MONDO:0012176 biolink:NamedThing Emanuel syndrome Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. tmpak2llvmy_mondo_relaxed.owl supernumerary der(22) syndrome|supernumerary Der(22)T(11|Der(22)t(11;22) syndrome|Emanuel syndrome|supernumerary der(22),t(11;22) syndrome MESH:C535733|Orphanet:96170|SCTID:702417004|OMIM:609029|ICD10:Q92.6|ICD9:758.5|GARD:0009835|UMLS:C1836929 https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome owl:Class MONDO:0017224 biolink:NamedThing Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|UMLS:CN202706|Orphanet:280229 owl:Class MONDO:0009983 biolink:NamedThing retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa, deafness, mental retardation, and hypogonadism|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome MESH:C564841|UMLS:C1849401|OMIM:268020|GARD:0004683|ICD10:Q87.8|Orphanet:3085 owl:Class ENVO:01001581 biolink:NamedThing sea surface layer A surface layer of a water body which is part of an ocean or sea.|A surface layer which is part of an ocean or sea. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007701 biolink:NamedThing progressive familial heart block type II tmpak2llvmy_mondo_relaxed.owl PFHBII|progressive familial heart block, type II|progressive familial heart block type 2|PFHB2|heart block progressive familial type 2 ICD9:426.6|MESH:C564202|OMIM:140400|SCTID:698251009|GARD:0004879|DOID:0111075 https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2 owl:Class GO:0033342 biolink:NamedThing negative regulation of collagen binding Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. tmpak2llvmy_mondo_relaxed.owl downregulation of collagen binding|inhibition of collagen binding|down-regulation of collagen binding|down regulation of collagen binding owl:Class MONDO:0023045 biolink:NamedThing ectodermal dysplasia arthrogryposis diabetes mellitus tmpak2llvmy_mondo_relaxed.owl GARD:0002042 https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus owl:Class MONDO:0011117 biolink:NamedThing iris pigment epithelium anomalies tmpak2llvmy_mondo_relaxed.owl iris pigment epithelium anomalies|ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium MESH:C566651|UMLS:C1866608|OMIM:601616 owl:Class GO:1901738 biolink:NamedThing regulation of vitamin A metabolic process Any process that modulates the frequency, rate or extent of vitamin A metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of vitamin A metabolism owl:Class HGNC:12774 biolink:NamedThing WNT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014132 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 3 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. tmpak2llvmy_mondo_relaxed.owl IBA57 deficiency|MMDS3|IBA57 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome type 3|multiple mitochondrial dysfunctions syndrome 3|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57 ICD10:G31.8|OMIM:615330|Orphanet:363424|UMLS:C3809165|DOID:0080135 owl:Class MONDO:0001178 biolink:NamedThing pseudopterygium tmpak2llvmy_mondo_relaxed.owl DOID:11028|ICD9:372.52|SCTID:66139007|UMLS:C0155161 owl:Class MONDO:0015103 biolink:NamedThing pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. tmpak2llvmy_mondo_relaxed.owl APV/ADA, Fallot type|PVA/ADA, Fallot type|absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome UMLS:CN197455|ICD10:Q22.2|Orphanet:101206 owl:Class MONDO:0054577 biolink:NamedThing bleeding disorder, platelet-type, 21 tmpak2llvmy_mondo_relaxed.owl bleeding disorder, platelet-type, 21|BDPLT21 OMIM:617443 owl:Class MONDO:0004710 biolink:NamedThing uterus carcinoma in situ A carcinoma in situ involving a uterus. tmpak2llvmy_mondo_relaxed.owl carcinoma in situ of uterus|stage 0 uterus carcinoma|uterus in situ carcinoma SCTID:92788005|DOID:9108|UMLS:C0686237|ICD9:233.2 owl:Class MONDO:0007883 biolink:NamedThing periodic fever, immunodeficiency, and thrombocytopenia syndrome tmpak2llvmy_mondo_relaxed.owl lazy leukocyte syndrome SCTID:71436005|ICD9:288.09|MESH:C562721|UMLS:C0272174|OMIM:150550 owl:Class HP:0000766 biolink:NamedThing Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. tmpak2llvmy_mondo_relaxed.owl Abnormality of the sternum|Pectus carinatum or pectus excavatum|Pectus deformities|Pectus excavatum/carinatum|Pectus excavatum or pectus carinatum|Pectus deformity|Sternal anomalies|Pectus excavatum or carinatum UMLS:C1860493 HP:0006708|HP:0006605|HP:0006586|HP:0006630|HP:0006594|HP:0000780 human_phenotype owl:Class HP:0000765 biolink:NamedThing Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). tmpak2llvmy_mondo_relaxed.owl Structural abnormality of the chest wall|Abnormality of the chest|Abnormality of the thorax UMLS:C4021797 HP:0100655 human_phenotype owl:Class CHEBI:46629 biolink:NamedThing oxo group tmpak2llvmy_mondo_relaxed.owl =O|oxo|OXO GROUP owl:Class MONDO:0011077 biolink:NamedThing microcephaly, corpus callosum dysgenesis, and cleft lip/palate tmpak2llvmy_mondo_relaxed.owl microcephaly, corpus callosum dysgenesis and cleft lip-palate|microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, facial clefting, and preaxial polydactyly|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation OMIM:601420|GARD:0003614|UMLS:C1832369|MESH:C537547 https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate owl:Class HGNC:3098 biolink:NamedThing TOR1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012852 biolink:NamedThing inflammatory bowel disease 20 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 20|inflammatory bowel disease type 20|IBD20 DOID:0110898|UMLS:C2676781|MESH:C567361|OMIM:612288 owl:Class MONDO:0019905 biolink:NamedThing ring chromosome 9 Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. tmpak2llvmy_mondo_relaxed.owl chromosome 9 ring|Ring 9|Ring chromosome type 9|Ring chromosome 9 syndrome|r9 Orphanet:96173|UMLS:CN036105|GARD:0001348|SCTID:60650002|ICD10:Q93.2|MESH:C538022 https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 owl:Class UBERON:0010345 biolink:NamedThing 4th arch mesenchyme from head mesenchyme Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 4th arch mesenchyme. tmpak2llvmy_mondo_relaxed.owl mesenchyme derived from head mesoderm of mesenchyme of 4th arch|pharyngeal arch 4 mesenchyme from head mesenchyme|branchial arch 4 mesenchyme from head mesenchyme|head mesenchyme derived arch 4 mesenchyme owl:Class MONDO:0054733 biolink:NamedThing spermatogenic failure 29 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 29|SPGF29 OMIM:618091 owl:Class MONDO:0014002 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 5 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene. tmpak2llvmy_mondo_relaxed.owl ENFL5|epilepsy, nocturnal frontal lobe, type 5|autosomal dominant nocturnal frontal lobe epilepsy type 5|nocturnal frontal lobe epilepsy 5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|epilepsy, nocturnal frontal lobe, 5 UMLS:C3554306|OMIM:615005|DOID:0060686 owl:Class MONDO:0002437 biolink:NamedThing dehydration polycythemia Polycythemia resulting from dehydration. tmpak2llvmy_mondo_relaxed.owl UMLS:C0856815|NCIT:C27310|DOID:2833 owl:Class NCBITaxon:123737 biolink:NamedThing Oestrus ovis tmpak2llvmy_mondo_relaxed.owl sheep bot fly GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123736 biolink:NamedThing Oestrus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001487 biolink:NamedThing intrahepatic bile duct cancer A cancer that involves the intrahepatic bile duct. tmpak2llvmy_mondo_relaxed.owl cancer of intrahepatic bile duct|Ca intrahepatic bile ducts|malignant intrahepatic bile duct neoplasm|malignant neoplasm of intrahepatic bile duct|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic biliary passages SCTID:187777008|ICD9:155.1|DOID:12298|UMLS:C0546835 owl:Class MONDO:0008461 biolink:NamedThing splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells tmpak2llvmy_mondo_relaxed.owl splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells UMLS:C1866744|OMIM:183350|MESH:C566666 owl:Class MONDO:0013024 biolink:NamedThing chronic thromboembolic pulmonary hypertension Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure. tmpak2llvmy_mondo_relaxed.owl pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to|Cteph, Dvt-negative, susceptibility to|CTEPH ICD9:415.19|ICD9:416.8|GARD:0013124|UMLS:C2363973|MedDRA:10068739|OMIM:612862|Orphanet:70591|SCTID:233947005 https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension owl:Class MONDO:0003471 biolink:NamedThing Pediculus humanus capitis infestation A infectious disease involving Pediculus humanus capitis. tmpak2llvmy_mondo_relaxed.owl pediculosis capitis|head louse infestation|Pediculus capitis infestation|Pediculus humanus capitis infection|Pediculus capitis|Pediculus capitis [head louse]|infections, Pediculus humanus capitis UMLS:C0030757|ICD10:B85.0|DOID:5501|SCTID:81000006|ICD9:132.0 owl:Class MONDO:0020686 biolink:NamedThing acute tonsillitis An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. tmpak2llvmy_mondo_relaxed.owl acute adenoiditis|acute tonsillitis|infective tonsillitis SCTID:17741008|NCIT:C97142|ICD9:463|UMLS:C0001361 owl:Class HGNC:16510 biolink:NamedThing FBXO31 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011451 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene. tmpak2llvmy_mondo_relaxed.owl cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|SCO2 fatal infantile encephalocardiomyopathy|CEMCOX1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in SCO2 OMIM:604377|DOID:0080357 owl:Class MONDO:0004542 biolink:NamedThing cervical adenosquamous carcinoma, glassy cell variant A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. tmpak2llvmy_mondo_relaxed.owl glassy cell adenocarcinoma of the uterine cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|glassy cell carcinoma of the cervix|GCC of the cervix|glassy cell variant cervical adenosquamous carcinoma ONCOTREE:CEGCC|ICD10:C53.1|GARD:0008437|ICD10:C53.0|Orphanet:213833|ICD10:C53.8|MESH:C536823|DOID:8361|NCIT:C40212 https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix owl:Class MONDO:0006134 biolink:NamedThing cervical adenosquamous carcinoma An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpak2llvmy_mondo_relaxed.owl uterine cervix adenosquamous cell carcinoma|cervical adenosquamous cancer|adenosquamous cell carcinoma of cervix uteri|adenosquamous cell carcinoma of the cervix|cervical adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix uteri|adenosquamous carcinoma of cervix|adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of cervix|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of the uterine cervix|cervical adenosquamous carcinoma|cervix adenosquamous cell carcinoma ONCOTREE:CEAS|DOID:5636|NCIT:C4519|EFO:1000162|UMLS:C0346202|SCTID:254888007 owl:Class MONDO:0008881 biolink:NamedThing kyphomelic dysplasia Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. tmpak2llvmy_mondo_relaxed.owl bowing, congenital, with short bones|kyphomelic dysplasia|congenital bowing with short bones GARD:0010149|ICD9:733.29|Orphanet:1801|OMIM:211350|SCTID:254096001|UMLS:C0432239|MESH:C538128 https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia owl:Class NCBITaxon:1980456 biolink:NamedThing Andes orthohantavirus tmpak2llvmy_mondo_relaxed.owl Andes hantavirus|Andes virus GC_ID:1 NCBITaxon:46607 ncbi_taxonomy owl:Class MONDO:0004707 biolink:NamedThing anal canal carcinoma in situ A carcinoma in situ involving a anal canal. tmpak2llvmy_mondo_relaxed.owl stage 0 anal canal cancer aJCC v6|anal carcinoma in situ|stage 0 anal canal cancer|carcinoma in situ of anal canal|carcinoma in situ of anus|stage 0 anal canal carcinoma|anal carcinoma stage 0|stage 0 anal carcinoma aJCC v6 and v7|stage 0 anal carcinoma in situ|stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer aJCC v6 and v7|anal intraepithelial neoplasia grade III|anal canal in situ carcinoma|stage 0 anal canal carcinoma aJCC v6 and v7 UMLS:C0154064|ICD9:230.5|DOID:9087|NCIT:C7794|SCTID:92531006|UMLS:C2242854|ICD9:230.6 owl:Class HP:0000982 biolink:NamedThing Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. tmpak2llvmy_mondo_relaxed.owl Thickening of palms and soles|Palmar and plantar keratoderma MSH:D007645|UMLS:C0022596|SNOMEDCT_US:706885006 human_phenotype owl:Class HGNC:10592 biolink:NamedThing SCN4B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015545 biolink:NamedThing macrophage activation syndrome A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. tmpak2llvmy_mondo_relaxed.owl MAS|reactive hemophagocytic lymphohistiocytosis NCIT:C114471|MedDRA:10053867|UMLS:C1096155|Orphanet:158061|MESH:D055501|SCTID:430478003|EFO:1001806|GARD:0012124 https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome owl:Class MONDO:0021151 biolink:NamedThing non-genetic tmpak2llvmy_mondo_relaxed.owl non-genomic owl:Class MONDO:0021149 biolink:NamedThing genetic vs non-genetic etiology tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002002 biolink:NamedThing postsurgical hypothyroidism tmpak2llvmy_mondo_relaxed.owl postoperative hypothyroidism|post-surgical hypothyroidism UMLS:C0154157|ICD9:244.0|DOID:1458|SCTID:27059002|ICD10:E89.0 owl:Class MONDO:0017988 biolink:NamedThing multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. tmpak2llvmy_mondo_relaxed.owl chaotic atrial tachycardia|MAT|multifocal atrial tachycardia (disease)|multifocal atrial tachycardia multifocal atrial tachycardia (disease) ICD9:427.89|UMLS:C0221158|SCTID:49982000|HP:0011701|ICD10:I47.1|GARD:0001235|Orphanet:3282 owl:Class MONDO:0001141 biolink:NamedThing middle ear cholesterol granuloma As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. tmpak2llvmy_mondo_relaxed.owl cholesterin granuloma of middle ear|cholesterin granuloma DOID:10852|SCTID:28371001|UMLS:C0155492|ICD9:385.82 owl:Class MONDO:0030313 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10|herpes simplex encephalitis, susceptibility to, 7|IIAE10 OMIM:619396 owl:Class HGNC:1848 biolink:NamedThing CEL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012292 biolink:NamedThing hepatitis C virus, susceptibility to tmpak2llvmy_mondo_relaxed.owl hepatitis C virus, susceptibility to|Hepatitis C Virus infection, response to therapy of|HCV, resistance to|HCV, susceptibility to|Hepatitis C Virus, resistance to UMLS:C2750389|OMIM:609532 owl:Class ENVO:02500027 biolink:NamedThing anthropogenic environmental process An environmental process which is driven by the action of humans. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18708 biolink:NamedThing GRIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035884 biolink:NamedThing maxillary-premaxillary suture A suture between the maxilla and premaxilla. tmpak2llvmy_mondo_relaxed.owl premaxillary suture|maxillary-premaxillary incisive suture|incisive suture owl:Class HGNC:11037 biolink:NamedThing SLC5A2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:24745 biolink:NamedThing hydroxypyridine Any member of the class of pyridines with at least one hydroxy substituent. tmpak2llvmy_mondo_relaxed.owl hydroxypyridines owl:Class NCBITaxon:131221 biolink:NamedThing Streptophytina tmpak2llvmy_mondo_relaxed.owl charophyte/embryophyte group|Charophyta/Embryophyta group GC_ID:1 ncbi_taxonomy owl:Class HGNC:20499 biolink:NamedThing L2HGDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021977 biolink:NamedThing basaloid follicular hamartoma A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy. tmpak2llvmy_mondo_relaxed.owl basal cell nevus with comedones|basaloid follicular hamartoma GARD:0002354|UMLS:C0474964|ICD9:706.1|SCTID:254705003|NCIT:C4749 https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma owl:Class MONDO:0006309 biolink:NamedThing mucinous gastric adenocarcinoma A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. tmpak2llvmy_mondo_relaxed.owl stomach mucinous adenocarcinoma|MSTAD|mucinous adenocarcinoma of the stomach|mucinous gastric adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous stomach adenocarcinoma NCIT:C5248|UMLS:C1334809|EFO:1000386|ONCOTREE:MSTAD|DOID:3716 owl:Class MONDO:0011188 biolink:NamedThing arrhythmogenic right ventricular dysplasia 3 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 3|ARVD3|ARVC3|familial arrhythmogenic right ventricular dysplasia 3|arrhythmogenic right ventricular cardiomyopathy 3|arrhythmogenic right ventricular dysplasia type 3 ICD10:I42.8|DOID:0110072|OMIM:602086|MESH:C566584|UMLS:C1865882 owl:Class HP:0000177 biolink:NamedThing Abnormality of upper lip An abnormality of the upper lip. tmpak2llvmy_mondo_relaxed.owl Anomaly of the upper lip|Abnormality of upper lip|Deformity of the upper lip|Malformation of the upper lip UMLS:C4025884 human_phenotype owl:Class MONDO:0015404 biolink:NamedThing rapidly involuting congenital hemangioma Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. tmpak2llvmy_mondo_relaxed.owl rich Orphanet:141184|UMLS:C1275421|ICD10:D18.0|SCTID:703294004 owl:Class MONDO:0011187 biolink:NamedThing polydactyly, postaxial, type A2 tmpak2llvmy_mondo_relaxed.owl PAPA2|polydactyly, postaxial, type A2|postaxial polydactyly, type A2 MESH:C566585|OMIM:602085|UMLS:C1865883 owl:Class MONDO:0015908 biolink:NamedThing chromomycosis Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. tmpak2llvmy_mondo_relaxed.owl Chromoblastomycoses|Chromomycoses|chromoblastomycosis|dermatitis Verrucosa|chromomycosis|Chromomycosis|mossy foot disease MESH:D002862|UMLS:C0008582|MedDRA:10008803|ICD10:B43.0|SCTID:187079000|ICD10:B43.9|ICD10:B43.1|ICD10:B43.8|GARD:0001319|DOID:1562|Orphanet:182|UMLS:C3245522|ICD9:117.2|EFO:0007207|ICD10:B43.2 Editor note: check cutaneous vs subcutaneous owl:Class MONDO:0001841 biolink:NamedThing uterine corpus epithelioid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. tmpak2llvmy_mondo_relaxed.owl NCIT:C40164|UMLS:C1519850|DOID:13951 owl:Class MONDO:0003594 biolink:NamedThing mixed liposarcoma A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. tmpak2llvmy_mondo_relaxed.owl mixed liposarcoma (morphologic abnormality)|mixed liposarcoma NCIT:C4253|DOID:5703|UMLS:C0334472|ICDO:8855/3 owl:Class UBERON:0002334 biolink:NamedThing submandibular duct the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue tmpak2llvmy_mondo_relaxed.owl ductus submaxillaris|submaxillary duct|submaxillar gland duct|submandibular salivary duct|ductus submandibularis|Wharton's duct owl:Class MONDO:0016806 biolink:NamedThing maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. tmpak2llvmy_mondo_relaxed.owl SCTID:717054001|ICD10:G24.8|Orphanet:254851|UMLS:C4274074 owl:Class UBERON:0034763 biolink:NamedThing hindbrain commissure Any commissure within the hindbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:MF_0000031 biolink:NamedThing cognitive representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. tmpak2llvmy_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0019955 biolink:NamedThing GRFoma 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). tmpak2llvmy_mondo_relaxed.owl GRF tumor|Growth hormone releasing factor tumor Orphanet:97261|UMLS:CN206877|ICD10:E16.8 owl:Class MONDO:0002444 biolink:NamedThing melancholia A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. tmpak2llvmy_mondo_relaxed.owl depression with melancholic features|melancholic depression DOID:2848|NCIT:C34812 owl:Class MONDO:0013583 biolink:NamedThing occipital pachygyria and polymicrogyria tmpak2llvmy_mondo_relaxed.owl OCCM|cortical malformations, occipital|occipital MCD|occipital malformations of cortical development Orphanet:280640|OMIM:614115|UMLS:C3279875|ICD10:Q04.3 owl:Class PO:0025497 biolink:NamedThing collective plant structure A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007). tmpak2llvmy_mondo_relaxed.owl estructura vegetal colectiva (Spanish, exact)|集合的植物構造 (Japanese, exact) PO_GIT:479 This is a parent term to describe both collective organ part structure (PO:0025269) (e.g. septum), as well as collective plant organ structure (PO:0025007) (which was formerly named collective plant structure), for example shoot system (PO:0009006). Laurel_Cooper 2012-06-11T15:09:20Z plant_anatomy owl:Class UBERON:0004228 biolink:NamedThing urinary bladder smooth muscle A portion of smooth muscle tissue that is part of a urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl bladder involuntary muscle|involuntary muscle of urinary bladder|non-striated muscle of urinary bladder|bladder smooth muscle|involuntary muscle of bladder|urinary bladder non-striated muscle|non-striated muscle of bladder|urinary bladder muscle|smooth muscle layer of bladder|bladder non-striated muscle|smooth muscle of bladder|smooth muscle tissue of urinary bladder|smooth muscle tissue of bladder|smooth muscle of urinary bladder|urinary bladder involuntary muscle|urinary bladder smooth muscle tissue|bladder smooth muscle tissue owl:Class GO:2001214 biolink:NamedThing positive regulation of vasculogenesis Any process that activates or increases the frequency, rate or extent of vasculogenesis. tmpak2llvmy_mondo_relaxed.owl positive regulation of vascular morphogenesis owl:Class MONDO:0004405 biolink:NamedThing Barrett adenocarcinoma An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002 tmpak2llvmy_mondo_relaxed.owl adenocarcinoma arising in Barrett's mucosa|Barrett adenocarcinoma|Barrett's adenocarcinoma NCIT:C7027|SCTID:721617001|DOID:7941|UMLS:C1332460|EFO:1001939 owl:Class MONDO:0018463 biolink:NamedThing mild phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. tmpak2llvmy_mondo_relaxed.owl mild PRPS1 superactivity|mild PRPP synthetase superactivity ICD10:E79.8|UMLS:CN237443|Orphanet:411536 owl:Class MONDO:0100369 biolink:NamedThing iatrogenic or non-iatrogenic A iatrogenic or non-iatrogenic form of a disease. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014097 biolink:NamedThing congenital short bowel syndrome Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. tmpak2llvmy_mondo_relaxed.owl CSBS|congenital short bowel syndrome ICD10:Q43.8|SCTID:715201005|Orphanet:2301 owl:Class MONDO:0006749 biolink:NamedThing mixed epithelioid and spindle cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. tmpak2llvmy_mondo_relaxed.owl mixed epithelioid and spindle cell melanoma NCIT:C66756|EFO:1000925|SCTID:254811006|MESH:D018332|ICDO:8770/3 owl:Class MONDO:0010414 biolink:NamedThing myopathy, reducing body, X-linked, early-onset, severe tmpak2llvmy_mondo_relaxed.owl RBMX1A|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|myopathy, reducing body, X-linked, early-onset, severe OMIM:300717|MESH:C567469|UMLS:C2678027 owl:Class ENVO:01001334 biolink:NamedThing advective transport process A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged. tmpak2llvmy_mondo_relaxed.owl advective transport owl:Class MONDO:0013830 biolink:NamedThing keratoconus 5 tmpak2llvmy_mondo_relaxed.owl KTCN5|keratoconus 5 UMLS:C3553302|OMIM:614622 owl:Class HGNC:28216 biolink:NamedThing COX14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009334 biolink:NamedThing hemolytic anemia with thermal sensitivity of red cells tmpak2llvmy_mondo_relaxed.owl hemolytic anemia with thermal sensitivity of red cells MESH:C565522|OMIM:235370|UMLS:C1856158 owl:Class GO:0033120 biolink:NamedThing positive regulation of RNA splicing Any process that activates or increases the frequency, rate or extent of RNA splicing. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006483 biolink:NamedThing Abnormal number of teeth The presence of an altered number of of teeth. tmpak2llvmy_mondo_relaxed.owl Abnormal complement of teeth|Abnormal tooth count|Abnormal number of teeth SNOMEDCT_US:335443002|UMLS:C1290508 Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. peter 2008-03-28T05:44:00Z human_phenotype owl:Class MONDO:0020748 biolink:NamedThing sitosterolemia 2 tmpak2llvmy_mondo_relaxed.owl STSL2 OMIM:618666 owl:Class MONDO:0008658 biolink:NamedThing virus Rd114 RNA Complementarity tmpak2llvmy_mondo_relaxed.owl virus Rd114 RNA Complementarity OMIM:193070 owl:Class MONDO:0032580 biolink:NamedThing nephrotic syndrome, type 17 tmpak2llvmy_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 17|NPHS17 DOID:0080392|OMIM:618176 owl:Class CHEBI:33836 biolink:NamedThing benzenoid aromatic compound tmpak2llvmy_mondo_relaxed.owl benzenoid compound|benzenoid aromatic compounds owl:Class UBERON:0005157 biolink:NamedThing epithelial fold An epithelial sheet bent on a linear axis. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0015749 biolink:NamedThing monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpak2llvmy_mondo_relaxed.owl monosaccharide transport owl:Class MONDO:0018946 biolink:NamedThing rhombencephalosynapsis Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres. tmpak2llvmy_mondo_relaxed.owl ICD9:742.4|UMLS:C1866130|ICD10:Q04.3|SCTID:442300000|Orphanet:59315 owl:Class MONDO:0017126 biolink:NamedThing oculo-skeletal-renal syndrome tmpak2llvmy_mondo_relaxed.owl oculo skeletal renal syndrome UMLS:CN202523|GARD:0004028|Orphanet:2716 https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome owl:Class MONDO:0022140 biolink:NamedThing Charles bonnet syndrome Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. tmpak2llvmy_mondo_relaxed.owl charles bonnet syndrome|CBS GARD:0010343|SCTID:193756007|UMLS:C0339731 https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome owl:Class MONDO:0017928 biolink:NamedThing 9p13 microdeletion syndrome 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). tmpak2llvmy_mondo_relaxed.owl Del(9)(p13)|monosomy 9p13 SCTID:764725008|Orphanet:324313|ICD10:Q93.5|UMLS:CN204067 owl:Class MONDO:0010348 biolink:NamedThing dyslexia, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl dyslexia, susceptibility to, 9|DYX9 OMIM:300509 owl:Class MONDO:0008651 biolink:NamedThing vertebral hypoplasia with lumbar kyphosis tmpak2llvmy_mondo_relaxed.owl vertebral hypoplasia with lumbar kyphosis OMIM:192900|UMLS:C1860463|MESH:C566002 owl:Class MONDO:0021957 biolink:NamedThing autosomal recessive nonsyndromic congenital nuclear cataract tmpak2llvmy_mondo_relaxed.owl congenital nuclear cataract, autosomal recessive UMLS:C2931470|MESH:C537298|GARD:0009492 https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract owl:Class MONDO:0020376 biolink:NamedThing early-onset nuclear cataract tmpak2llvmy_mondo_relaxed.owl UMLS:CN207247|MESH:C563333|ICD10:Q12.0|MedDRA:10057735|Orphanet:98991|MedDRA:10007759 owl:Class MONDO:0018221 biolink:NamedThing immune hydrops fetalis Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. tmpak2llvmy_mondo_relaxed.owl immune HF|immune fetal edema|IHF|immune fetal hydrops SCTID:15539009|ICD9:773.3|NCIT:C111904|UMLS:C0455990|ICD10:P56.0|Orphanet:364013 owl:Class HP:0001751 biolink:NamedThing Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. tmpak2llvmy_mondo_relaxed.owl Interictal vestibular dysfunction|Impaired vestibular function|Vestibular function defect UMLS:C1843865 The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0006917|HP:0007921 human_phenotype owl:Class HP:0011389 biolink:NamedThing Functional abnormality of the inner ear An abnormality of the function of the inner ear. tmpak2llvmy_mondo_relaxed.owl Functional abnormality of the inner ear UMLS:C4023382 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. hecht 2012-03-09T04:58:30Z human_phenotype owl:Class HGNC:25221 biolink:NamedThing MMADHC tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002246 biolink:NamedThing peripheral blood stem cell A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells). tmpak2llvmy_mondo_relaxed.owl PBSC FMA:86711|BTO:0002669 tmeehan 2010-09-07T03:57:09Z cell owl:Class CL:0000080 biolink:NamedThing circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. tmpak2llvmy_mondo_relaxed.owl cell owl:Class OBO:CHR_9606-chr5q31 biolink:NamedThing chr5q31 (Human) tmpak2llvmy_mondo_relaxed.owl 145100000 131200000 hg38 owl:Class HGNC:33848 biolink:NamedThing COA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011357 biolink:NamedThing eccrine syringofibroadenomatosis with eyelid abnormalities tmpak2llvmy_mondo_relaxed.owl eccrine syringofibroadenomatosis with eyelid abnormalities OMIM:603669|UMLS:C1863618|MESH:C566347 owl:Class MONDO:0003830 biolink:NamedThing type 1 papillary adenoma of the kidney tmpak2llvmy_mondo_relaxed.owl type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney NCIT:C39809|DOID:6258|UMLS:C1519706 owl:Class MONDO:0012469 biolink:NamedThing myopia 14 tmpak2llvmy_mondo_relaxed.owl myopia 14|MYP14 UMLS:C1853196|OMIM:610320|MESH:C565202 owl:Class MONDO:0015584 biolink:NamedThing febrile infection-related epilepsy syndrome Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. tmpak2llvmy_mondo_relaxed.owl AERRPS|acute non-herpetic encephalitis with severe refractory status epilepticus|FIRES|DESC syndrome|severe refractory status epilepticus owing to presumed encephalitis|acute encephalitis with refractory repetitive partial seizures|fever-induced refractory epileptic encephalopathy in school-aged children|status epilepticus owing to presumed encephalitis|idiopathic catastrophic epileptic encephalopathy|devastating epileptic encephalopathy in school-aged children UMLS:CN199955|SCTID:725413002|Orphanet:163703|GARD:0011005|ICD10:G40.5 https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome owl:Class MONDO:0008314 biolink:NamedThing pronation-supination of the forearm, impairment of tmpak2llvmy_mondo_relaxed.owl pronation-supination of the forearm, impairment of UMLS:C1867726|OMIM:176800|MESH:C566757 owl:Class NBO:0000607 biolink:NamedThing cognitive behavior "Behaviour related to cognitive processes." [NBO:JH] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007476 biolink:NamedThing familial Dupuytren contracture Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). tmpak2llvmy_mondo_relaxed.owl plantar fibromatosis, familial|plantar fibromas|Dupuytren contracture|Dupuytren contracture 1 GARD:0012165|Orphanet:79142|ICD10:M72.0|SCTID:274142002|OMIM:126900 owl:Class HGNC:9988 biolink:NamedThing RFXAP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008202 biolink:NamedThing Parotidomegaly, hereditary bilateral tmpak2llvmy_mondo_relaxed.owl Parotidomegaly, hereditary bilateral UMLS:C1868590|MESH:C566821|OMIM:168800 owl:Class HP:0010932 biolink:NamedThing Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. tmpak2llvmy_mondo_relaxed.owl Abnormal nucleoside levels UMLS:C4023643|UMLS:C4020762 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. peter 2011-01-06T10:46:17Z human_phenotype owl:Class UBERON:0005144 biolink:NamedThing metanephric glomerular capillary This process pertains to the initial formation of a structure from unspecified parts[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8859 biolink:NamedThing PEX6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015777 biolink:NamedThing transitional epithelium of prostatic urethra tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10279 biolink:NamedThing Molluscum contagiosum virus tmpak2llvmy_mondo_relaxed.owl MOCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10278 biolink:NamedThing Molluscipoxvirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:14857 biolink:NamedThing COG5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032564 biolink:NamedThing hennekam lymphangiectasia-lymphedema syndrome 3 tmpak2llvmy_mondo_relaxed.owl HKLLS3|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 OMIM:618154 owl:Class HGNC:23159 biolink:NamedThing ALG2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007568 biolink:NamedThing aortic aneurysm, familial thoracic 4 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm/aortic dissection and patent ductus arteriosus|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm, familial thoracic 4|AAT4|MYH11 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, familial thoracic type 4|FAA4 OMIM:132900|GARD:0009876|UMLS:C1851504|MESH:C537784 https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4 owl:Class UBERON:0012377 biolink:NamedThing muscle layer of jejunum A muscular coat that is part of a jejunum. tmpak2llvmy_mondo_relaxed.owl muscularis propria of jejunum|muscularis externa of jejunum|jejunal smooth muscle|smooth muscle of jejunum owl:Class MONDO:0013473 biolink:NamedThing Hirschsprung disease, cardiac defects, and autonomic dysfunction tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease, CARDIAC defects, and autonomic dysfunction|Hirschsprung disease, cardiac defects, and autonomic dysfunction|HCAD MESH:C563939|OMIM:613870|UMLS:C3151237 owl:Class MONDO:0012533 biolink:NamedThing autism, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 7|AUTS7 OMIM:610676 owl:Class MONDO:0016460 biolink:NamedThing polyvalvular heart disease syndrome Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl PHD syndrome SCTID:723448007|UMLS:C4509918|Orphanet:228410|UMLS:CN201425|ICD10:Q87.8 owl:Class NCBITaxon:197912 biolink:NamedThing Betainfluenzavirus tmpak2llvmy_mondo_relaxed.owl Influenzavirus B GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024429 biolink:NamedThing Alice in wonderland syndrome A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. tmpak2llvmy_mondo_relaxed.owl MESH:D062026|NCIT:C116362 owl:Class CL:0002338 biolink:NamedThing CD56-positive, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive. tmpak2llvmy_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-21T10:06:53Z cell owl:Class GO:0140039 biolink:NamedThing cell-cell adhesion in response to extracellular stimulus The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014919 biolink:NamedThing sessile serrated polyposis cancer syndrome tmpak2llvmy_mondo_relaxed.owl sessile serrated polyposis cancer syndrome|sessile serrated polyposis cancer syndrome; SSPCS|SSPCS OMIM:617108|UMLS:C4310714 owl:Class MONDO:0015524 biolink:NamedThing hyperplastic polyposis syndrome Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. tmpak2llvmy_mondo_relaxed.owl serrated polyposis SCTID:763536006|Orphanet:157798|UMLS:CN199665|ICD10:D12.6|NCIT:C165469 owl:Class MONDO:0007102 biolink:NamedThing amyotrophic dystonic paraplegia tmpak2llvmy_mondo_relaxed.owl amyotrophic dystonic paraplegia MESH:C566292|OMIM:105300|UMLS:C1862956 owl:Class MONDO:0003800 biolink:NamedThing conventional malignant hemangiopericytoma A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. tmpak2llvmy_mondo_relaxed.owl conventional malignant hemangiopericytoma NCIT:C9425|DOID:6197|UMLS:C1333158 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0012620 biolink:NamedThing prostate cancer, hereditary, 10 tmpak2llvmy_mondo_relaxed.owl HPC10|prostate cancer, hereditary, 10 UMLS:C1970192|OMIM:611100|MESH:C567011 owl:Class MONDO:0014143 biolink:NamedThing Noonan syndrome 8 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. tmpak2llvmy_mondo_relaxed.owl Noonan syndrome caused by mutation in RIT1|NS8|RIT1 Noonan syndrome|Noonan syndrome 8|Noonan syndrome type 8 OMIM:615355|UMLS:C3809233|DOID:0060586 owl:Class CHEBI:51039 biolink:NamedThing dopamine uptake inhibitor A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake. tmpak2llvmy_mondo_relaxed.owl dopamine reuptake inhibitors|DRI|dopamine reuptake inhibitor|dopamine uptake inhibitors|DARI owl:Class CHEBI:48560 biolink:NamedThing dopaminergic agent A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. tmpak2llvmy_mondo_relaxed.owl dopaminergic agents|dopamine agent|dopamine drugs|dopamine drug|dopamine agents owl:Class MONDO:0024813 biolink:NamedThing pulmonary sulcus neoplasm A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpak2llvmy_mondo_relaxed.owl pulmonary sulcus neoplasm|pulmonary sulcus tumor NCIT:C27710 owl:Class MONDO:0018321 biolink:NamedThing atypical juvenile parkinsonism Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. tmpak2llvmy_mondo_relaxed.owl SCTID:725146001|UMLS:C4510873|ICD10:G20|Orphanet:391411|UMLS:CN204972 owl:Class HGNC:6388 biolink:NamedThing KIF11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011440 biolink:NamedThing hypertension, essential, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl Hyt2|hypertension, essential, susceptibility to, type 2|hypertension, essential, susceptibility to, 2 OMIM:604329 owl:Class NCBITaxon:337963 biolink:NamedThing Neotominae tmpak2llvmy_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class HP:0033100 biolink:NamedThing Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpak2llvmy_mondo_relaxed.owl peter human_phenotype owl:Class HP:0003355 biolink:NamedThing Aminoaciduria An increased concentration of an amino acid in the urine. tmpak2llvmy_mondo_relaxed.owl Abnormal urinary amino-acid findings|Hyperaminoaciduria|High urine amino acid levels|Increased levels of animo acids in urine UMLS:C0238621|SNOMEDCT_US:35912001|UMLS:C4020843 HP:0008335|HP:0200014|HP:0002903 human_phenotype owl:Class MONDO:0015238 biolink:NamedThing arrhinia-choanal atresia-microphthalmia syndrome Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. tmpak2llvmy_mondo_relaxed.owl Bosma Henkin Christiansen syndrome|arhinia choanal atresia microphthalmia|congenital absence of nose and anterior nasopharynx|Bosma arhinia microphthalmia syndrome ICD10:Q87.0|Orphanet:1135|GARD:0008755 https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia owl:Class MONDO:0016920 biolink:NamedThing partial deletion of the long arm of chromosome 22 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 22q|partial deletion of the long arm of chromosome type 22|partial monosomy of chromosome 22q|partial monosomy of the long arm of chromosome 22 2021-01-01 Orphanet:262182|ICD10:Q93.5 Reason: duplicate. This will be merged with MONDO:0022760 chromosome 22q deletion owl:Class HGNC:11274 biolink:NamedThing SPTB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006548 biolink:NamedThing facial dermatosis Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. tmpak2llvmy_mondo_relaxed.owl MESH:D005148|DOID:3134|EFO:1000698|UMLS:C0015456 owl:Class NCBITaxon:302011 biolink:NamedThing Rickettsia conorii subsp. caspia tmpak2llvmy_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006190 biolink:NamedThing endolymphatic sac tumor An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. tmpak2llvmy_mondo_relaxed.owl endolymphatic sac tumor|endolymphatic sac neoplasm (disease)|ELST|tumor of endolymphatic sac|neoplasm of endolymphatic sac|endolymphatic sac tumor (disease)|endolymphatic sac neoplasm|aggressive papillary tumor of the temporal bone endolymphatic sac tumor (disease) HP:0030393|GARD:0009270|ICDO:8260/1|SCTID:699817008|EFO:1000230|UMLS:C2348239|NCIT:C67560|ICD9:212.0 owl:Class MONDO:0013296 biolink:NamedThing myeloid neoplasm associated with FGFR1 rearrangement Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. tmpak2llvmy_mondo_relaxed.owl 8p11 stem cell syndrome|8p11 myeloproliferative syndrome|chromosome 8p11 myeloproliferative syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement|stem cell leukemia/lymphoma|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|myeloid/lymphoid neoplasms with FGFR1 rearrangement|8p11 stem cell lymphoma/leukemia syndrome|8p11 stem cell leukemia/lymphoma syndrome OMIM:613523|UMLS:C3150773|ICD10:D47.1|ONCOTREE:MLNFGFR1|ICDO:9967/3|UMLS:C2827362|NCIT:C84277|Orphanet:168953 owl:Class MONDO:0018529 biolink:NamedThing qualitative or quantitative defects of Torsin-1A-interacting protein 1 tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of Torsin-1A-interacting protein type 1 Orphanet:424925 owl:Class CHEBI:36388 biolink:NamedThing saturated organic heterocyclic parent tmpak2llvmy_mondo_relaxed.owl saturated heterocyclic parent hydride|saturated heterocyclic parent hydrides|saturated organic heterocyclic parents owl:Class PO:0008028 biolink:NamedThing reproductive shoot apical meristem A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs. tmpak2llvmy_mondo_relaxed.owl 生殖シュート頂端 分裂組織 (Japanese, exact)|meristema apical reproductivo del epiblasto (epiblastema) (Spanish, exact) PO_GIT:36 plant_anatomy owl:Class MONDO:0011034 biolink:NamedThing odontomicronychial dysplasia Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, nail/Tooth type|odontomicronychial dysplasia|odonto-micronychial dysplasia UMLS:C1832473|OMIM:601319|Orphanet:1811|GARD:0004053|MESH:C537741 https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia owl:Class MONDO:0011220 biolink:NamedThing parkinson disease 3, autosomal dominant tmpak2llvmy_mondo_relaxed.owl PARK3|Parkinson disease 3, autosomal dominant Lewy body|Parkinson disease 3, autosomal dominant|autosomal dominant Parkinson disease|Parkinson disease type 3 GARD:0008578|MESH:C566552|OMIM:602404|DOID:0111250|UMLS:C1865581 owl:Class NCIT:C36843 biolink:NamedThing Abnormal Connective and Soft Tissue Cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013159 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 tmpak2llvmy_mondo_relaxed.owl congenital muscular dystrophy-POMT1 related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy, congenital, Pomt1-related|MDDGB1 OMIM:613155|UMLS:C3150415 owl:Class GO:1990351 biolink:NamedThing transporter complex A protein complex facilitating transport of molecules (proteins, small molecules, nucleic acids) into, out of or within a cell, or between cells. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25415 biolink:NamedThing PPM1K tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17210 biolink:NamedThing DHX37 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004618 biolink:NamedThing diplegia of upper limb tmpak2llvmy_mondo_relaxed.owl diplegia of upper limbs|diplegia, upper DOID:862|ICD9:344.2|SCTID:54099005|UMLS:C0154701|ICD10:G83.0 owl:Class MONDO:0004543 biolink:NamedThing enteric pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. tmpak2llvmy_mondo_relaxed.owl testicular yolk Sac tumor, enteric pattern UMLS:C1515304|DOID:8362|NCIT:C39932 owl:Class HGNC:12266 biolink:NamedThing TREH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044334 biolink:NamedThing connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. tmpak2llvmy_mondo_relaxed.owl connective and soft tissue tumor|skeletal and soft tissue neoplasm|neoplasm of soft tissue and bone|musculoskeletal and soft tissue neoplasm|soft tissue and bone tumor|soft tissue and bone neoplasm|neoplasm of skeletal and soft tissue|tumor of skeletal and soft tissue|musculoskeletal and soft tissue tumor|tumor of soft tissue and bone|connective and soft tissue neoplasm|skeletal and soft tissue tumor|neoplasm of soft tissue and skeleton|tumor of soft tissue and skeleton NCIT:C3810 Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone owl:Class MONDO:0019330 biolink:NamedThing pili gemini Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair. tmpak2llvmy_mondo_relaxed.owl pili multigemini Orphanet:79492|ICD9:704.8|ICD10:L67.8|MESH:C537188|SCTID:42829009 owl:Class CL:4006000 biolink:NamedThing fibroblast of breast A fibroblast that is part of the breast. tmpak2llvmy_mondo_relaxed.owl breast fibroblast owl:Class MONDO:0022205 biolink:NamedThing pustular psoriasis tmpak2llvmy_mondo_relaxed.owl Pustular psoriasis|pustular psoriasis GARD:0012813|UMLS:C0152081|ICD9:696.1|MEDGEN:508876|SCTID:200973000 owl:Class MONDO:0006766 biolink:NamedThing gait apraxia Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. tmpak2llvmy_mondo_relaxed.owl Gait apraxia (finding) MESH:D020235|EFO:1000944|MedDRA:10070635|UMLS:C1510417|DOID:4260 owl:Class HGNC:11892 biolink:NamedThing TNF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008472 biolink:NamedThing spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia, myopia, and sensorineural deafness|spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome MESH:C566659|Orphanet:163668|UMLS:C1866719|OMIM:184000|ICD10:Q77.7 owl:Class HP:0002414 biolink:NamedThing Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. tmpak2llvmy_mondo_relaxed.owl Split spine Fyler:4157|UMLS:C0080178|SNOMEDCT_US:67531005|MSH:D016135 human_phenotype owl:Class MONDO:0008001 biolink:NamedThing milia, multiple eruptive tmpak2llvmy_mondo_relaxed.owl milia, multiple eruptive|MEM UMLS:C0343079|OMIM:157400|MESH:C562823|SCTID:238749001 owl:Class UBERON:0003279 biolink:NamedThing endothelium of trachea An endothelium that is part of a trachea. tmpak2llvmy_mondo_relaxed.owl trachea endothelium|windpipe endothelium|endothelium of windpipe owl:Class HGNC:29536 biolink:NamedThing MAPKBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016251 biolink:NamedThing salivary gland type cancer of the breast Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. tmpak2llvmy_mondo_relaxed.owl salivary gland type carcinoma of the breast Orphanet:213557|GARD:0012774|SCTID:716593008|ICD10:C50.4|ICD10:C50.0|ICD10:C50.5|ICD10:C50.6|ICD10:C50.2|ICD10:C50.1|ICD10:C50.3|ICD10:C50.8 Editor note: consider merging with mammary adenoid cystic carcinoma https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast owl:Class MONDO:0002016 biolink:NamedThing benign familial neonatal epilepsy A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) tmpak2llvmy_mondo_relaxed.owl familial neonatal seizures SCTID:279953009|DOID:14777|GARD:0002159 owl:Class MONDO:0000961 biolink:NamedThing endobronchial lipoma A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. tmpak2llvmy_mondo_relaxed.owl endobronchial lipoma DOID:10183|NCIT:C5063|UMLS:C0852937 Editor note: TODO check with NCIT why this is classified as lung owl:Class MONDO:0032776 biolink:NamedThing deafness, autosomal recessive 99 tmpak2llvmy_mondo_relaxed.owl DEAFNESS, AUTOSOMAL RECESSIVE 99|DFNB99 DOID:0111634|OMIM:618481 owl:Class HGNC:24054 biolink:NamedThing KNL1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000359 biolink:NamedThing Abnormality of the inner ear An abnormality of the inner ear. tmpak2llvmy_mondo_relaxed.owl Abnormality of the inner ear|Inner ear abnormality UMLS:C4021809 human_phenotype owl:Class MONDO:0015909 biolink:NamedThing aplastic anemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. tmpak2llvmy_mondo_relaxed.owl SCTID:306058006|ICD10:D61.9|ICD10:D61.1|NCIT:C2870|ICD10:D61.3|MESH:D000741|ICD10:D61.8|DOID:12449|ICD9:284.8|ICD10:D61.2|ICD10:D61.0|Orphanet:182040|ICD9:284.9 owl:Class MONDO:0006096 biolink:NamedThing atypical endometrial hyperplasia An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. tmpak2llvmy_mondo_relaxed.owl endometrial hyperplasia with atypia|atypical hyperplasia of endometrium|atypical hyperplasia of the endometrium UMLS:C0349579|EFO:1000098|SCTID:277158007|ICD9:621.33|NCIT:C4654 owl:Class MONDO:0021035 biolink:NamedThing alopecia-intellectual disability syndrome 1 tmpak2llvmy_mondo_relaxed.owl APMR1|alopecia-intellectual disability syndrome 1|alopecia-mental retardation syndrome 1|APMR UMLS:C1859878|OMIM:203650|DOID:0080628 owl:Class MONDO:0007551 biolink:NamedThing localized epidermolysis bullosa simplex Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. tmpak2llvmy_mondo_relaxed.owl EBS, acral form|epidermolysis bullosa simplex of palms and soles|epidermolysis bullosa simplex, localized|epidermolysis bullosa of hands and feet|Weber-Cockayne type epidermolysis bullosa simplex|Weber-Cockayne syndrome|EBS-loc|epidermolysis bullosa simplex, Weber-Cockayne type ICD9:757.39|ICD10:Q81.0|GARD:0002146|DOID:0080510|OMIM:131800|Orphanet:79400|SCTID:294705005 https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized owl:Class MONDO:0004096 biolink:NamedThing spinal cord dermoid cyst A dermoid cyst that involves the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord dermoid cyst|dermoid cyst of spinal cord|dermoid cyst of the spinal cord|spinal cord dermoid NCIT:C6808|UMLS:C1333278|DOID:7071 owl:Class MONDO:0023098 biolink:NamedThing extrasystoles short stature hyperpigmentation microcephaly tmpak2llvmy_mondo_relaxed.owl Char douglas Dungan syndrome GARD:0002213 https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly owl:Class HGNC:40038 biolink:NamedThing PET100 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0007364 biolink:NamedThing Aplasia/Hypoplasia of the cerebrum tmpak2llvmy_mondo_relaxed.owl Absent/small cerebrum|Absent/underdeveloped cerebrum UMLS:C4024902 peter 2008-03-31T05:43:00Z human_phenotype owl:Class MONDO:0002736 biolink:NamedThing ampulla of vater mucinous adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. tmpak2llvmy_mondo_relaxed.owl ampulla of Vater mucinous adenocarcinoma|hepatopancreatic ampulla mucinous adenocarcinoma DOID:3693|UMLS:C1332248|NCIT:C27416 owl:Class HGNC:16700 biolink:NamedThing ZFPM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014355 biolink:NamedThing cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis tmpak2llvmy_mondo_relaxed.owl DCWHKTA|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis UMLS:C4014393|OMIM:615821 owl:Class MONDO:0010274 biolink:NamedThing testicular germ cell tumor 1 tmpak2llvmy_mondo_relaxed.owl testicular germ cell tumor 1|TGCT1 OMIM:300228|MESH:C564559|UMLS:C1846164 owl:Class MONDO:0015628 biolink:NamedThing von Willebrand disease type 2A Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. tmpak2llvmy_mondo_relaxed.owl von Willebrand disease, type 2A Orphanet:166084|SCTID:359714009|NCIT:C131686|ICD10:D68.0|UMLS:C1282968 owl:Class UBERON:0016854 biolink:NamedThing dorsal part of optic cup The dorsal region of the optic cup that gives rise to the dorsal part of the retina. tmpak2llvmy_mondo_relaxed.owl dorsal region of optic cup|dorsal optic cup owl:Class MONDO:0001975 biolink:NamedThing cavernous hemangioma of orbit A cavernous hemangioma arising from the orbit. tmpak2llvmy_mondo_relaxed.owl cavernous angioma of orbit|cavernous hemangioma of the orbit|orbit cavernous hemangioma|orbit cavernous angioma|cavernous angioma of the orbit NCIT:C4546|ICD9:228.09|DOID:14463|UMLS:C0346352|SCTID:254998002 owl:Class MONDO:0002336 biolink:NamedThing inflammatory and toxic neuropathy tmpak2llvmy_mondo_relaxed.owl ICD9:357.8|ICD9:357.7|DOID:2537|ICD9:357.9|ICD9:357|SCTID:267601009 Editor note: consider obsoleting owl:Class UBERON:0001510 biolink:NamedThing skin of knee A zone of skin that is part of a knee [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl knee skin|zone of skin of knee|knee zone of skin owl:Class MONDO:0004237 biolink:NamedThing large cell carcinoma with rhabdoid phenotype A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. tmpak2llvmy_mondo_relaxed.owl large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality)|RLCLC DOID:7480|UMLS:C1265997|ONCOTREE:RLCLC|NCIT:C6876|ICDO:8014/3 owl:Class MONDO:0028618 biolink:NamedThing gastroenteric neuroendocrine neoplasm tmpak2llvmy_mondo_relaxed.owl Orphanet:481508 owl:Class GO:1904320 biolink:NamedThing positive regulation of smooth muscle contraction involved in micturition Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpak2llvmy_mondo_relaxed.owl activation of smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|up-regulation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in urination|up-regulation of smooth muscle contraction involved in urination|up-regulation of smooth muscle contraction involved in micturition|upregulation of urinary bladder smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in micturition|activation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of smooth muscle contraction involved in urination|up regulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in urination owl:Class MONDO:0017134 biolink:NamedThing odonto-onycho dysplasia-alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl odonto onycho dysplasia with alopecia GARD:0004051|Orphanet:2722|UMLS:CN202534 owl:Class CHEBI:77182 biolink:NamedThing food colouring A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199). tmpak2llvmy_mondo_relaxed.owl food colorings|food coloring|food colourings owl:Class NCBITaxon:1980467 biolink:NamedThing Dobrava-Belgrade orthohantavirus tmpak2llvmy_mondo_relaxed.owl Dobrava-Belgrade virus|Dobrava-Belgrade hantavirus|Dobrava virus|Dobravavirus GC_ID:1 NCBITaxon:12506 ncbi_taxonomy owl:Class GO:0070482 biolink:NamedThing response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015677 biolink:NamedThing cardiac diverticulum Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. tmpak2llvmy_mondo_relaxed.owl Cardiac diverticulum|cardiac diverticulum (disease) cardiac diverticulum (disease) UMLS:CN226726|ICD10:Q24.8|HP:0100571|GARD:0001094|Orphanet:1686 owl:Class MONDO:0004878 biolink:NamedThing female breast upper-outer quadrant cancer tmpak2llvmy_mondo_relaxed.owl ICD10:C50.41|ICD9:174.4|DOID:9773|UMLS:C0153552|SCTID:188154003 owl:Class MONDO:0010391 biolink:NamedThing angioma serpiginosum, X-linked tmpak2llvmy_mondo_relaxed.owl angioma serpiginosum, X-linked GARD:0010188|OMIM:300652 owl:Class HGNC:11140 biolink:NamedThing SNCB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004149 biolink:NamedThing gallbladder pleomorphic giant cell adenocarcinoma tmpak2llvmy_mondo_relaxed.owl pleomorphic giant cell adenocarcinoma of the gallbladder DOID:7222 owl:Class HGNC:7459 biolink:NamedThing MT-ND4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007682 biolink:NamedThing granddad syndrome tmpak2llvmy_mondo_relaxed.owl Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance|granddad syndrome MESH:C564211|OMIM:138920|UMLS:C1841836 owl:Class GO:1901607 biolink:NamedThing alpha-amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of an alpha-amino acid. tmpak2llvmy_mondo_relaxed.owl alpha-amino acid synthesis|alpha-amino acid biosynthesis|alpha-amino acid anabolism|alpha-amino acid formation owl:Class MONDO:0022055 biolink:NamedThing Calabro syndrome tmpak2llvmy_mondo_relaxed.owl craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects GARD:0008584|MESH:C537960|UMLS:C0796276 https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome owl:Class MONDO:0022098 biolink:NamedThing catamenial pneumothorax Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery. tmpak2llvmy_mondo_relaxed.owl catamenial pneumothorax|premenstrual pneumothorax GARD:0009858|SCTID:233642001|MESH:C538279|UMLS:C0340007 https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax owl:Class UBERON:0007289 biolink:NamedThing presumptive rhombomere 1 A presumptive structure that has the potential to develop into a rhombomere 1. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006561 biolink:NamedThing eyelid hypopigmentation Under-production of pigment in the eyelid. tmpak2llvmy_mondo_relaxed.owl hypopigmentation of eyelid SCTID:68210006|DOID:11668|ICD10:H02.73|UMLS:C0155212|ICD9:374.53|EFO:1000713 owl:Class MONDO:0004762 biolink:NamedThing Taylor syndrome tmpak2llvmy_mondo_relaxed.owl Taylor's syndrome|pelvic congestion syndrome|congestion-fibrosis syndrome ICD9:625.5|DOID:9346|SCTID:39402007|UMLS:C0152078 owl:Class UBERON:0010150 biolink:NamedThing duct of major vestibular gland One of a pair of ducts leading from the Bartholin's glands to the surface of the vulva tmpak2llvmy_mondo_relaxed.owl Bartholin's duct|greater vestibular gland duct|duct of greater vestibular gland owl:Class MONDO:0033199 biolink:NamedThing deafness, autosomal recessive 107 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 107|DFNB107|autosomal recessive nonsyndromic deafness 107 DOID:0080262|OMIM:617639 owl:Class GO:0006952 biolink:NamedThing defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. tmpak2llvmy_mondo_relaxed.owl antimicrobial peptide activity|physiological defense response|defence response|defense/immunity protein activity owl:Class HGNC:4396 biolink:NamedThing GNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008147 biolink:NamedThing osteogenesis imperfecta type 2 Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. tmpak2llvmy_mondo_relaxed.owl OI, type 2|OI type 2|OI2|osteogenesis imperfecta type 2|osteogenesis imperfecta congenita, perinatal lethal form|perinatal lethal osteogenesis imperfecta congenita|osteogenesis imperfecta, type 2|osteogenesis imperfecta, type II|lethal osteogenesis imperfecta|osteogenesis imperfecta congenita|osteogenesis imperfecta congenita perinatal lethal form|Perinatally lethal OI|Vrolik type of osteogenesis imperfecta|osteogenesis imperfecta type II SCTID:86470003|ICD10:Q78.0|GARD:0010142|OMIM:166210|MESH:C536042|Orphanet:216804|DOID:0110341|NCIT:C99001|UMLS:CN536250 owl:Class MONDO:0012707 biolink:NamedThing familial febrile seizures 9 tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9 DOID:0111303|MESH:C566901|OMIM:611634|UMLS:C1968846 owl:Class MONDO:0042486 biolink:NamedThing polyposis syndrome, hereditary mixed, 1 tmpak2llvmy_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 15|HMPS1|colorectal cancer, susceptibility to, 4|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|colorectal adenoma and carcinoma 1|polyposis syndrome, hereditary mixed, 1 OMIM:601228|DOID:0111685 owl:Class MONDO:0021935 biolink:NamedThing aspergillus niger infection A infectious disease involving the Aspergillus niger. tmpak2llvmy_mondo_relaxed.owl infections, Aspergillus niger|Aspergillus niger infection, pulmonary|Aspergillus niger infection GARD:0009716|MESH:C535390 https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection owl:Class MONDO:0003697 biolink:NamedThing non-invasive verrucous carcinoma of the penis tmpak2llvmy_mondo_relaxed.owl non-invasive verrucous carcinoma of penis|non-invasive penile verrucous carcinoma|non-invasive verrucous carcinoma of the penis|penis non-invasive verrucous carcinoma UMLS:C1334984|DOID:5907|NCIT:C27791 owl:Class MONDO:0030341 biolink:NamedThing myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive tmpak2llvmy_mondo_relaxed.owl CMS7B|myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive OMIM:619461 owl:Class MONDO:0007627 biolink:NamedThing focal facial dermal dysplasia type I Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia. tmpak2llvmy_mondo_relaxed.owl FFDD type I|focal facial dermal dysplasia 1, Brauer type|FFDD1|bitemporal aplasia cutis congenita|hereditary symmetrical aplastic nevi of temples|Brauer syndrome|focal facial dermal dysplasia type 1|FFDD, type 1 OMIM:136500|ICD10:Q82.8|UMLS:CN776929|Orphanet:79133|GARD:0008416 owl:Class MONDO:0012587 biolink:NamedThing hypertension, essential, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, type 7|hypertension, essential, susceptibility to, 7|Hyt7 OMIM:610948 owl:Class MONDO:0011213 biolink:NamedThing Pierpont syndrome Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. tmpak2llvmy_mondo_relaxed.owl plantar lipomatosis, unusual facies, and developmental delay|Pierpont syndrome|PIERPONT syndrome|PRPTS|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome MESH:C566559|UMLS:C1865644|OMIM:602342|Orphanet:487825 owl:Class UBERON:0004229 biolink:NamedThing urinary bladder trigone smooth muscle A portion of smooth muscle tissue that is part of a trigone of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl smooth muscle of vesical trigone|non-striated muscle of Lieutaud's trigone|Lieutaud's trigone involuntary muscle|trigone of urinary bladder non-striated muscle|smooth muscle tissue of deep trigone|deep trigone smooth muscle tissue|urinary bladder trigone non-striated muscle|smooth muscle of trigone of bladder|smooth muscle tissue of trigone of urinary bladder|urinary bladder trigone muscle|non-striated muscle of deep trigone|trigone of bladder smooth muscle tissue|deep trigone involuntary muscle|deep trigone non-striated muscle|smooth muscle tissue of trigone of bladder|vesical trigone non-striated muscle|Lieutaud's trigone non-striated muscle|deep trigone smooth muscle|smooth muscle tissue of Lieutaud's trigone|trigone of bladder involuntary muscle|urinary bladder trigone smooth muscle tissue|smooth muscle of Lieutaud's trigone|vesical trigone smooth muscle|involuntary muscle of urinary bladder trigone|smooth muscle of trigone of urinary bladder|involuntary muscle of trigone of urinary bladder|trigone of urinary bladder smooth muscle tissue|trigone of bladder smooth muscle|trigone of bladder non-striated muscle|non-striated muscle of trigone of bladder|non-striated muscle of trigone of urinary bladder|involuntary muscle of Lieutaud's trigone|involuntary muscle of deep trigone|trigone of urinary bladder involuntary muscle|smooth muscle tissue of urinary bladder trigone|trigone of urinary bladder smooth muscle|Lieutaud's trigone smooth muscle|Lieutaud's trigone smooth muscle tissue|vesical trigone involuntary muscle|involuntary muscle of vesical trigone|non-striated muscle of urinary bladder trigone|involuntary muscle of trigone of bladder|smooth muscle tissue of vesical trigone|vesical trigone smooth muscle tissue|non-striated muscle of vesical trigone|smooth muscle of urinary bladder trigone|urinary bladder trigone involuntary muscle|smooth muscle of deep trigone owl:Class MONDO:0010329 biolink:NamedThing intellectual disability, X-linked 77 tmpak2llvmy_mondo_relaxed.owl MRX77|intellectual disability, X-linked 77|mental retardation, X-linked 77 OMIM:300454|UMLS:C1845499|MESH:C564511 owl:Class MONDO:0001792 biolink:NamedThing epiphora due to insufficient drainage tmpak2llvmy_mondo_relaxed.owl UMLS:C0155234|ICD10:H04.22|ICD9:375.22|SCTID:85042000|DOID:13756 owl:Class NCBITaxon:91561 biolink:NamedThing Artiodactyla tmpak2llvmy_mondo_relaxed.owl Cetartiodactyla|even-toed ungulates|whales, hippos, ruminants, pigs, camels etc. GC_ID:1 ncbi_taxonomy owl:Class ENVO:01001698 biolink:NamedThing polar front A weather front which separates air masses of tropical and polar origin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016192 biolink:NamedThing qualitative or quantitative defects of telethonin tmpak2llvmy_mondo_relaxed.owl Orphanet:209056 owl:Class HP:0002269 biolink:NamedThing Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. tmpak2llvmy_mondo_relaxed.owl Heterotopias/abnormal migration|Migrational brain disorder|Neuronal migration disorder|Abnormal neuronal migration UMLS:C1837249|MSH:D054081 HP:0007317 human_phenotype owl:Class HP:0011042 biolink:NamedThing Abnormal blood potassium concentration An abnormal concentration of potassium. tmpak2llvmy_mondo_relaxed.owl Abnormality of potassium homeostasis|Abnormal blood K concentration UMLS:C4023575 peter 2011-03-09T11:00:32Z human_phenotype owl:Class MONDO:0019998 biolink:NamedThing gastroduodenal malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:97944 owl:Class MONDO:0004212 biolink:NamedThing vulvar keratoacanthoma-like carcinoma A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. tmpak2llvmy_mondo_relaxed.owl vulvar squamous cell carcinoma, keratoacanthoma type NCIT:C40288|UMLS:C1520086|DOID:7408 owl:Class MONDO:0008239 biolink:NamedThing phosphoglucomutase 4 tmpak2llvmy_mondo_relaxed.owl Pgm4|milk PGM|phosphoglucomutase 4|phosphoglucomutase type 4 OMIM:172110 owl:Class MONDO:0010412 biolink:NamedThing X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. tmpak2llvmy_mondo_relaxed.owl craniofacioskeletal syndrome UMLS:C2678036|MESH:C567471|Orphanet:163979|ICD10:Q87.8|OMIM:300712 owl:Class GO:0016814 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010095 biolink:NamedThing ataxia-tapetoretinal degeneration syndrome tmpak2llvmy_mondo_relaxed.owl tapetoretinal degeneration with ataxia Orphanet:1178|MESH:C564788|UMLS:C1848932|OMIM:272600 owl:Class MONDO:0032633 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 29 tmpak2llvmy_mondo_relaxed.owl MC1DN29|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM:618250 owl:Class MONDO:0011376 biolink:NamedThing ventricular fibrillation, paroxysmal familial, type 1 tmpak2llvmy_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial, 1|ventricular fibrillation, paroxysmal familial, type 1|IVF|VF1|ventricular fibrillation during myocardial infarction, susceptibility to MESH:C567851|UMLS:C2751898|ICD10:I49.0|SCTID:233915000|OMIM:603829 owl:Class CHEBI:35552 biolink:NamedThing heterocyclic organic fundamental parent tmpak2llvmy_mondo_relaxed.owl heterocyclic parent hydrides|organic heterocyclic fundamental parents|heterocyclic fundamental parent|heterocyclic organic fundamental parents owl:Class MONDO:0012367 biolink:NamedThing retinitis pigmentosa 31 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. tmpak2llvmy_mondo_relaxed.owl RP 31|RP31|retinitis pigmentosa 31|TOPORS retinitis pigmentosa|retinitis pigmentosa caused by mutation in TOPORS|retinitis pigmentosa type 31 MESH:C563685|DOID:0110391|UMLS:C1835923|OMIM:609923|ICD10:H35.5|GARD:0010396 https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31 owl:Class NCBITaxon:32519 biolink:NamedThing Ostariophysi tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008242 biolink:NamedThing photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction tmpak2llvmy_mondo_relaxed.owl hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome|photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction GARD:0009267|SCTID:237612000|UMLS:C1809475|MESH:C538113|ICD9:583.9|OMIM:172500 owl:Class HGNC:7794 biolink:NamedThing NFKB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0006530 biolink:NamedThing Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. tmpak2llvmy_mondo_relaxed.owl Interstitial lung disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung|Interstitial pulmonary disease UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563 HP:0006547|HP:0006513 human_phenotype owl:Class CL:1000716 biolink:NamedThing kidney outer medulla collecting duct principal cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001132 cell owl:Class HGNC:15454 biolink:NamedThing SHOC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009842 biolink:NamedThing Pelger-Huet-like anomaly and episodic fever with abdominal pain tmpak2llvmy_mondo_relaxed.owl Pelger-Huet-like anomaly and episodic fever with abdominal pain UMLS:C1850054|OMIM:260570|MESH:C564899 owl:Class CL:0001012 biolink:NamedThing CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor tmpak2llvmy_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). cell owl:Class MONDO:0003644 biolink:NamedThing cavernous hemangioma of colon A cavernous hemangioma arising from the colon. tmpak2llvmy_mondo_relaxed.owl colonic cavernous angioma|cavernous hemangioma of the colon|colon cavernous angioma|cavernous angioma of colon|cavernous hemangioma of colon|colon cavernous hemangioma|cavernous angioma of the colon|colonic cavernous hemangioma UMLS:C1333086|NCIT:C5395|DOID:5775 owl:Class MONDO:0011861 biolink:NamedThing breath-holding Spells tmpak2llvmy_mondo_relaxed.owl breath-holding Spells|Bhs OMIM:607578 owl:Class MONDO:0007767 biolink:NamedThing hyperparathyroidism 1 tmpak2llvmy_mondo_relaxed.owl parathyroid adenoma, familial|hyperparathyroidism 1|HRPT1|hyperparathyroidism, familial isolated primary|hyperparathyroidism type 1 UMLS:C1840402|OMIM:145000 owl:Class HGNC:26560 biolink:NamedThing ODAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013938 biolink:NamedThing peroxisome biogenesis disorder 7A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 8|PBD7A|peroxisome biogenesis disorder 7A (Zellweger)|peroxisome biogenesis disorder, complementation group A DOID:0080482|OMIM:614872|UMLS:C3888385 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0011671 biolink:NamedThing Huntington disease-like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. tmpak2llvmy_mondo_relaxed.owl Huntington disease-like 2|Huntington disease-like type 2|Huntington's disease-like 2|HDL2 Orphanet:98934|OMIM:606438|MESH:C564708|SCTID:721228006|ICD10:G10|DOID:0090104|UMLS:C1847987 owl:Class MONDO:0003601 biolink:NamedThing mediastinum liposarcoma A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum. tmpak2llvmy_mondo_relaxed.owl liposarcoma of the mediastinum|mediastinal liposarcoma|lip mediastinum sarcoma|liposarcoma of mediastinum|mediastinum liposarcoma NCIT:C6614|UMLS:C1334663|DOID:5713 owl:Class CL:1001569 biolink:NamedThing hippocampal interneuron An interneuron of the hippocampus. tmpak2llvmy_mondo_relaxed.owl FMA:84777 cl owl:Class MONDO:0016083 biolink:NamedThing FLOTCH syndrome FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. tmpak2llvmy_mondo_relaxed.owl familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity|leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome MESH:C537065|GARD:0002346|UMLS:C2931411|ICD10:L60.8|Orphanet:2045 https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome owl:Class MONDO:0011351 biolink:NamedThing autosomal recessive nonsyndromic deafness 21 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpak2llvmy_mondo_relaxed.owl tecta autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 21|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|DFNB21|autosomal recessive nonsyndromic deafness 21|autosomal recessive nonsyndromic deafness type 21|autosomal recessive nonsyndromic deafness caused by mutation in tecta|TECTA autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 21|autosomal recessive deafness 21 MESH:C566353|UMLS:C1863655|ICD10:H90.3|DOID:0110479|OMIM:603629 owl:Class CL:0009018 biolink:NamedThing lymphocyte of large intestine lamina propria A lymphocyte that resides in the lamina propria of the large intestine. tmpak2llvmy_mondo_relaxed.owl lamina propria lymphocyte of large intestine owl:Class MONDO:0016304 biolink:NamedThing classic pantothenate kinase-associated neurodegeneration tmpak2llvmy_mondo_relaxed.owl neurodegeneration with brain iron accumulation type 1, classic form|PKAN, classic form|NBIA1, classic form ICD10:G23.0|UMLS:CN201109|Orphanet:216866 owl:Class MONDO:0010425 biolink:NamedThing Lisch epithelial corneal dystrophy Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. tmpak2llvmy_mondo_relaxed.owl band-Shaped and whorled microcystic corneal epithelial dystrophy|corneal dystrophy, Lisch epithelial|band-shaped and whorled microcystic|LECD|band-shaped and whorled microcystic dystrophy of the corneal epithelium|Lisch epithelial corneal dystrophy MESH:C567588|Orphanet:98955|UMLS:C2749050|ICD10:H18.5|DOID:0060450|OMIM:300778|SCTID:724175002 owl:Class MONDO:0001431 biolink:NamedThing toxic or nutritional optic neuropathy A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency. tmpak2llvmy_mondo_relaxed.owl nutritional optic neuropathy UMLS:C0155302|DOID:1209|ICD9:377.33|ICD10:H46.2|SCTID:82108004 owl:Class CHEBI:52208 biolink:NamedThing biophysical role tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000098 biolink:NamedThing Tall stature A height above that which is expected according to age and gender norms. tmpak2llvmy_mondo_relaxed.owl Accelerated linear growth|Increased body height|Tall stature|Increased linear growth UMLS:C0241240|SNOMEDCT_US:248328003 peter 2008-02-27T02:21:00Z HP:0001527|HP:0003515|HP:0003516 human_phenotype owl:Class MONDO:0005432 biolink:NamedThing alcohol and nicotine codependence A drug dependence that is the physiological result of being addicted to alcohol and nicotine. tmpak2llvmy_mondo_relaxed.owl EFO:0004776 owl:Class MONDO:0033566 biolink:NamedThing combined oxidative phosphorylation deficiency 48 tmpak2llvmy_mondo_relaxed.owl COXPD48|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 OMIM:619012 owl:Class MONDO:0004829 biolink:NamedThing Krukenberg carcinoma Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. tmpak2llvmy_mondo_relaxed.owl Krukenberg’s tumor|Krukenberg neoplasm|Krukenberg tumor DOID:9597|NCIT:C3153|MESH:D007725|SCTID:359987004|EFO:1000316|GARD:0008627|UMLS:C0022790 MONDO:0006261 owl:Class UBERON:0035075 biolink:NamedThing thymus subunit tmpak2llvmy_mondo_relaxed.owl lobe or lobule of thymus owl:Class HP:0001331 biolink:NamedThing Absent septum pellucidum Absence of the septum pellucidum. tmpak2llvmy_mondo_relaxed.owl Absence of septum pellucidum|Absence of the septum pellucidum|Missing septum pellucidum|Agenesis of the septum pellucidum SNOMEDCT_US:253143001|UMLS:C0431371|MSH:C535562 TODO: Bundled term. Revise annotations and split this term. HP:0006969 human_phenotype owl:Class HP:0007375 biolink:NamedThing Abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. tmpak2llvmy_mondo_relaxed.owl UMLS:C4024894 peter 2008-04-01T10:48:00Z human_phenotype owl:Class MONDO:0012238 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|PEOA2|progressive external ophthalmoplegia, autosomal dominant 2|SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2 UMLS:C1836460|DOID:0111517|OMIM:609283|MESH:C563750 owl:Class MONDO:0003140 biolink:NamedThing immune-complex glomerulonephritis Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. tmpak2llvmy_mondo_relaxed.owl immune Complex glomerulonephritis SCTID:123752003|NCIT:C35800|ICD9:583.89|DOID:4784|UMLS:C0744421 owl:Class HP:0045014 biolink:NamedThing Hypolipidemia tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:238090007|UMLS:C0342892 HPO:skoehler human_phenotype owl:Class HP:0011339 biolink:NamedThing Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. tmpak2llvmy_mondo_relaxed.owl Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Malformation of the upper lip vermillion|Deformity of the upper lip vermillion UMLS:C4023406 peter 2012-02-26T01:32:28Z human_phenotype owl:Class MONDO:0004755 biolink:NamedThing monieziasis Infection of ruminants with tapeworms of the genus Moniezia. tmpak2llvmy_mondo_relaxed.owl DOID:931|MESH:D008989|UMLS:C0026414|EFO:1001372 owl:Class MONDO:0013353 biolink:NamedThing intellectual disability, anterior maxillary protrusion, and strabismus tmpak2llvmy_mondo_relaxed.owl MRAMS|intellectual disability, anterior maxillary protrusion, and strabismus|mental retardation, anterior maxillary protrusion, and strabismus OMIM:613671|Orphanet:562559|UMLS:C3150924 owl:Class MONDO:0024418 biolink:NamedThing muscular fibrosis multifocal obstructed vessels tmpak2llvmy_mondo_relaxed.owl GARD:0003857|Orphanet:2033 Editor note: not in ORDO as of Apr 29 2018 owl:Class MONDO:0015745 biolink:NamedThing microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. tmpak2llvmy_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN200295|Orphanet:171703 owl:Class MONDO:0008482 biolink:NamedThing Sprengel deformity tmpak2llvmy_mondo_relaxed.owl Sprengel's shoulder|Sprengel deformity|congenital elevation of the scapula|congenital upward displacement of the scapula|high scapula|Sprengel deformity (disease)|Sprengel's deformity Sprengel deformity (disease) GARD:0007693|OMIM:184400|Orphanet:3181|MedDRA:10010455|MESH:C535802|HP:0000912|ICD10:Q74.0|SCTID:79120002 owl:Class MONDO:0002480 biolink:NamedThing endometrioid tumor A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpak2llvmy_mondo_relaxed.owl female reproductive endometrioid cancer|endometrioid tumor|female reproductive endometrioid neoplasm|endometrioid neoplasm of female reproductive system|endometrioid tumor of female reproductive system|endometrioid neoplasm of the female reproductive system|female reproductive endometrioid tumor|endometrioid tumor of the female reproductive system|endometrioid neoplasm|endometrioid tumor (morphologic abnormality) UMLS:C0474809|NCIT:C7113|EFO:0009118|DOID:3001 owl:Class MONDO:0017971 biolink:NamedThing 46,XY disorder of sex development due to a cholesterol synthesis defect tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to a cholesterol synthesis defect 2022-03-01 UMLS:CN227234|Orphanet:325511 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class HGNC:812 biolink:NamedThing ATP2A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042911 biolink:NamedThing Schwartz-Cohen-addad-Lambert syndrome tmpak2llvmy_mondo_relaxed.owl Schwartz Cohen-Addad Lambert syndrome|congenital melanocytosis with myelomeningocele and hydrocephalus MESH:C535835|UMLS:C2931036|GARD:0000253 owl:Class HGNC:10908 biolink:NamedThing SLC11A2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0072348 biolink:NamedThing sulfur compound transport The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl sulfur-containing compound transport owl:Class MONDO:0037253 biolink:NamedThing ovarian thecoma A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. tmpak2llvmy_mondo_relaxed.owl thecoma of ovary|theca cell tumor of the ovary|thecoma of the ovary|ovarian theca cell tumor|theca cell neoplasm of the ovary|ovarian thecoma|theca cell tumor of ovary|theca cell neoplasm of ovary|ovary thecoma|ovarian theca cell neoplasm SCTID:254864005|NCIT:C66989 owl:Class MONDO:0016353 biolink:NamedThing palmoplantar keratoderma-spastic paralysis syndrome tmpak2llvmy_mondo_relaxed.owl palmoplantar hyperkeratosis-spastic paralysis syndrome|keratoderma palmoplantar spastic paralysis|Powell-Venencie-Gordon syndrome Orphanet:2201|GARD:0003095|MESH:C538358 owl:Class MONDO:0007161 biolink:NamedThing spermatogenic failure 2 tmpak2llvmy_mondo_relaxed.owl Aspermiogenesis Factor|spermatogenic failure 2|SPGF2 OMIM:108420|DOID:0070164 owl:Class MONDO:0017236 biolink:NamedThing rapidly progressive glomerulonephritis Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. tmpak2llvmy_mondo_relaxed.owl RPGN|crescentic glomerulonephritis ICD10:N01|SCTID:236392004|UMLS:C0221239|DOID:4776|ICD9:580.4|Orphanet:280569|NCIT:C35264|MedDRA:10018378|ICD9:583.4|ICD9:582.4 owl:Class MONDO:0008407 biolink:NamedThing neurogenic scapuloperoneal syndrome, Kaeser type tmpak2llvmy_mondo_relaxed.owl scapuloperoneal syndrome, neurogenic, Kaeser type|scapuloperoneal syndrome, neurogenic type, of Kaeser|stark-Kaeser syndrome|Kaeser syndrome|SCPNK OMIM:181400|MESH:C566695|GARD:0010312|ICD10:G12.1|UMLS:C1867005|Orphanet:85146|DOID:0111551 https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type owl:Class PATO:0000404 biolink:NamedThing coiled A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals). tmpak2llvmy_mondo_relaxed.owl helix-shaped|helicoid|spiral|helicoidal|helical owl:Class MONDO:0005888 biolink:NamedThing ornithosis Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. tmpak2llvmy_mondo_relaxed.owl psittacosis ICD10:A70|EFO:0007410|ICD9:073|SCTID:75116005|NCIT:C34873|ICD9:073.9|DOID:11262|UMLS:C0029291|MESH:D009956|GARD:0007492 owl:Class MONDO:0002171 biolink:NamedThing giant cell tumor A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. tmpak2llvmy_mondo_relaxed.owl tumor of the giant cell|giant cell tumors (morphologic abnormality)|giant cell tumor NOS (morphologic abnormality)|giant cell tumors|giant cell tumor (morphologic abnormality)|giant cell tumor (qualifier value)|giant cell tumor|giant cell neoplasm MESH:D005870|NCIT:C3055|DOID:200|SCTID:443790001|UMLS:C0017525 editor note: consider separate term for neoplasm (C3055 in NCIT) owl:Class MONDO:0002735 biolink:NamedThing anal canal adenocarcinoma An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of the anal canal|adenocarcinoma of anal canal|anal canal adenocarcinoma (disease)|adenocarcinoma arising in the anal mucosa|anal canal adenocarcinoma|adenocarcinoma arising in anal mucosa anal canal adenocarcinoma (disease) Orphanet:424016|NCIT:C7471|ICD10:C21.1|DOID:3692|UMLS:C1332259|SCTID:764845008|HP:0030439 owl:Class MONDO:0008257 biolink:NamedThing platelet responsiveness to adrenaline, depressed tmpak2llvmy_mondo_relaxed.owl platelet responsiveness to adrenaline, depressed OMIM:173580 owl:Class MONDO:0025293 biolink:NamedThing poult enteritis mortality syndrome An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. tmpak2llvmy_mondo_relaxed.owl spiking mortality syndrome|mortality syndrome, spiking MESH:D031261|UMLS:C1135821 owl:Class MONDO:0010824 biolink:NamedThing disorder of sex development-intellectual disability syndrome Verloes-Gillerot-Fryns syndrome is a rare association of malformations. tmpak2llvmy_mondo_relaxed.owl pseudohermaphroditism-intellectual disability syndrome|male pseudohermaphroditism/mental retardation syndrome, Verloes type|Verloes-Gillerot-Fryns syndrome|Verloes syndrome|Verloes Gillerot Fryns syndrome|disorder of sex development intellectual disability|Male pseudohermaphroditism intellectual disability syndrome, Verloes type|male pseudohermaphroditism/intellectual disability syndrome, Verloes type ICD10:Q56.3|GARD:0004550|MESH:C535693|SCTID:719450007|OMIM:600122|Orphanet:2983 owl:Class MONDO:0001522 biolink:NamedThing pyromania A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. tmpak2llvmy_mondo_relaxed.owl pathological firesetting|firesetting behavior SCTID:600009|MESH:D005391|ICD10:F63.1|DOID:12402|NCIT:C94334|ICD9:312.33 owl:Class NCBITaxon:783 biolink:NamedThing Rickettsia rickettsii tmpak2llvmy_mondo_relaxed.owl Dermacentroxenus rickettsii GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009488 biolink:NamedThing keratoconus posticus circumscriptus tmpak2llvmy_mondo_relaxed.owl KPC|keratoconus posticus CIRCUMSCRIPTUS|Kpc with associated malformations|keratoconus posticus circumscriptus UMLS:C1855645|OMIM:244600|GARD:0003091 https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus owl:Class MONDO:0007158 biolink:NamedThing arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal. tmpak2llvmy_mondo_relaxed.owl arthrogryposis with oculomotor limitation and electroretinal abnormalities|DA5|arthrogryposis ophthalmoplegia retinopathy|distal arthrogryposis type 5|arthrogryposis, distal, type 5|distal arthrogryposis type IIB|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome|distal arthrogryposis with ophthalmoplegia|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|arthrogryposis, distal, type 2B|Arthogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia ICD10:Q68.8|GARD:0004047|Orphanet:1154|SCTID:715217004|OMIM:108145|UMLS:C1862472 https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 owl:Class MONDO:0044325 biolink:NamedThing Fanconi anemia, complementation group W tmpak2llvmy_mondo_relaxed.owl Fanconi anemia, complementation group W|FANCW OMIM:617784|UMLS:CN653907 owl:Class MONDO:0001685 biolink:NamedThing chronic follicular conjunctivitis tmpak2llvmy_mondo_relaxed.owl DOID:13326|UMLS:C0155147|SCTID:39429002|ICD9:372.12|ICD10:H10.43 owl:Class MONDO:0008510 biolink:NamedThing symphalangism with multiple anomalies of hands and feet Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. tmpak2llvmy_mondo_relaxed.owl symphalangism with multiple anomalies of hands and feet|Learman syndrome Orphanet:3246|MESH:C566098|UMLS:C1861391|SCTID:732955001|GARD:0005077|ICD10:Q74.8|OMIM:185750 https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet owl:Class MONDO:0012244 biolink:NamedThing prostate cancer, hereditary, 5 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, 5|HPC5|prostate cancer, hereditary, type 5 OMIM:609299|UMLS:C1836436|MESH:C563744 owl:Class HGNC:19181 biolink:NamedThing KIF14 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0009746 biolink:NamedThing response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpak2llvmy_mondo_relaxed.owl response to hexose stimulus owl:Class MONDO:0031332 biolink:NamedThing Glanzmann thrombasthenia 1 A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia tmpak2llvmy_mondo_relaxed.owl glycoprotein Complex IIb-IIIa, deficiency of|bleeding disorder, Platelet-type, 2|Glanzmann's thrombasthenia|deficiency of GP 2B 3A complex|Glanzmann thrombasthenia 1|deficiency of glycoprotein complex IIb-IIIa|platelet glycoprotein IIb-IIIa deficiency|GP IIb-IIIa Complex, deficiency of|Glanzmann thrombasthenia type A|BDPLT2|Diacyclothrombopathia 2B 3A|GT|deficiency of platelet fibrinogen receptor|Platelet fibrinogen receptor, deficiency of|Platelet glycoprotein IIb-IIIa deficiency|deficiency of GP IIb-IIIa complex|platelet-type bleeding disorder 2|Thrombocytasthenia|glycoprotein IIb/IIIa defect|thrombasthenia|Glanzmann thrombasthenia|Platelet glycoprotein 2B 3A deficiency|thrombasthenia of Glanzmann and Naegeli GARD:0002478|DOID:2219|SCTID:32942005|NCIT:C61249|Orphanet:849|OMIM:273800|ICD10:D69.1|MESH:D013915 owl:Class MONDO:0018260 biolink:NamedThing scalp syndrome tmpak2llvmy_mondo_relaxed.owl sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome Orphanet:370052|ICD10:Q84.8 owl:Class HGNC:10799 biolink:NamedThing SFTPA2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001877 biolink:NamedThing Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). tmpak2llvmy_mondo_relaxed.owl Abnormality of erythrocytes|Abnormality of erythroid lineage cell|Abnormality of red blood cells SNOMEDCT_US:12222001|UMLS:C4020862|UMLS:C0391870 HP:0010973 human_phenotype owl:Class MONDO:0019581 biolink:NamedThing acral persistent papular mucinosis Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. tmpak2llvmy_mondo_relaxed.owl SCTID:238949006|ICD9:701.8|UMLS:C0406660|Orphanet:90396|ICD10:L98.5 owl:Class HGNC:17652 biolink:NamedThing PORCN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009337 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 1 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. tmpak2llvmy_mondo_relaxed.owl CCBE1 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome|Hennekam syndrome caused by mutation in CCBE1|Hennekam lymphangiectasia-lymphedema syndrome 1|HKLLS1|lymphatic dysplasia, generalized|Hennekam lymphangiectasia-lymphedema syndrome type 1 OMIM:235510|UMLS:C4012050 owl:Class MONDO:0013027 biolink:NamedThing posterior amorphous corneal dystrophy Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. tmpak2llvmy_mondo_relaxed.owl posterior amorphous stromal dystrophy|PACD|corneal dystrophy, POSTERIOR amorphous|posterior amorphous corneal dystrophy|chromosome 12Q21.33 deletion syndrome Orphanet:98971|SCTID:719296002|UMLS:C2748502|DOID:0060452|ICD10:H18.5|MESH:C567546|OMIM:612868 owl:Class MONDO:0013614 biolink:NamedThing hypertelorism-preauricular sinus-punctual pits-deafness syndrome tmpak2llvmy_mondo_relaxed.owl hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome|hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD UMLS:C3280065|OMIM:614187|Orphanet:293958 owl:Class MONDO:0054736 biolink:NamedThing mosaic variegated aneuploidy syndrome 3 tmpak2llvmy_mondo_relaxed.owl MOSAIC variegated aneuploidy syndrome 3|MVA3 OMIM:617598 owl:Class MONDO:0015316 biolink:NamedThing congenital laryngeal palsy Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. tmpak2llvmy_mondo_relaxed.owl congenital vocal cord paralysis GARD:0012713|Orphanet:137932|UMLS:C0396058|ICD10:J38.0 https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy owl:Class ENVO:01001055 biolink:NamedThing environment associated with an animal part or small animal An environmental system determined by part of a living or dead animal, or a whole small animal. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:723 biolink:NamedThing Actinobacillus ureae tmpak2llvmy_mondo_relaxed.owl Pasterella haemolytica var. ureae|Pasteurella ureae GC_ID:11 ncbi_taxonomy owl:Class HGNC:8654 biolink:NamedThing PCCB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11030 biolink:NamedThing SLC4A4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000864 biolink:NamedThing Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025819 HP:0000838|HP:0000844 human_phenotype owl:Class MONDO:0030995 biolink:NamedThing global developmental delay with speech and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl GDSBA OMIM:619243 owl:Class GO:0008509 biolink:NamedThing anion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl anion transporter activity owl:Class MONDO:0023040 biolink:NamedThing ectodermal dysplasia Bartalos type tmpak2llvmy_mondo_relaxed.owl GARD:0002043 https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type owl:Class HGNC:13222 biolink:NamedThing BCL11B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020575 biolink:NamedThing polymorphic ventricular tachycardia A ventricular tachycardia that is irregular in rate and rhythm. tmpak2llvmy_mondo_relaxed.owl polymorphic ventricular tachycardia|ventricular tachycardia, polymorphic NCIT:C111648|UMLS:C0344432|HP:0031677|SCTID:251159007 owl:Class MONDO:0005477 biolink:NamedThing ventricular tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) tmpak2llvmy_mondo_relaxed.owl UMLS:C0042514|ICD10:I47.2|EFO:0005306|MESH:D017180|NCIT:C50802|SCTID:25569003 owl:Class PATO:0001985 biolink:NamedThing frozen A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020818 biolink:NamedThing secondary dentine Dentin formed by normal pulp after completion of root end formation. tmpak2llvmy_mondo_relaxed.owl secondary dentine|tertiary dentine|Irregular dentine|Secondary dentin|Dentin, Secondary|reparative dentine|Secondary Dentin|DENTIN SECOND|Irregular dentin|irregular dentine|SECOND DENTIN|Tertiary dentine|Reparative dentine|Dentins, Secondary|Sclerotic dentine|sclerotic dentine|Secondary Dentins|Secondary dentine|secondary dentin|irregular dentin MESH:D003809|SCTID:59818004|UMLS:C0011434 owl:Class HGNC:14024 biolink:NamedThing PRY tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21082 biolink:NamedThing SEC63 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004913 biolink:NamedThing alternating esotropia tmpak2llvmy_mondo_relaxed.owl SCTID:39837002|DOID:9888|ICD10:H50.05|ICD9:378.05|UMLS:C0152205 owl:Class HGNC:11123 biolink:NamedThing SMS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042491 biolink:NamedThing cervical squamous intraepithelial neoplasia A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures. tmpak2llvmy_mondo_relaxed.owl squamous intraepithelial lesion of the cervix uteri|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|cervix squamous intraepithelial lesion|squamous intraepithelial lesion of the uterine cervix|cervical squamous intraepithelial lesion|squamous intraepithelial lesion of cervix|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of the cervix|uterine cervix sil|squamous intraepithelial lesion of cervix uteri|cervical sil|cervix uteri sil|squamous intraepithelial lesion of uterine cervix|CIN NCIT:C7346|MESH:D065310 owl:Class HP:0000309 biolink:NamedThing Abnormality of the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. tmpak2llvmy_mondo_relaxed.owl Anomaly of the midface|Deformity of the midface|Malformation of the midface|Abnormality of the midface UMLS:C4021811 human_phenotype owl:Class MONDO:0013886 biolink:NamedThing nonprogressive cerebellar atxia with intellectual disability Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). tmpak2llvmy_mondo_relaxed.owl non-progressive cerebellar ataxia with intellectual disability|nonprogressive cerebellar ataxia with intellectual disability|nonprogressive cerebellar atxia with intellectual disability|cerebellar ataxia, nonprogressive, with intellectual disability|nonprogressive cerebellar ataxia with mental retardation|CANPMR|cerebellar ataxia, nonprogressive, with mental retardation OMIM:614756|DOID:0050998|UMLS:C3553661|Orphanet:314647|ICD10:G11.0|SCTID:723441001 owl:Class MONDO:0003633 biolink:NamedThing malignant mesenchymoma A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpak2llvmy_mondo_relaxed.owl mesenchymoma, malignant|mesenchymoma, malignant (morphologic abnormality) DOID:5758|NCIT:C4268|ICDO:8990/3|GARD:0003369 owl:Class CL:0002366 biolink:NamedThing myometrial cell A smooth muscle cell of the myometrium that enlarges and stretches during pregnancy, and contracts in response to oxytocin. tmpak2llvmy_mondo_relaxed.owl myometrium smooth muscle cell BTO:0004519 tmeehan 2010-09-23T03:46:34Z cell owl:Class CL:0002601 biolink:NamedThing uterine smooth muscle cell A smooth muscle cell of the uterus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T05:53:28Z cell owl:Class MONDO:0021541 biolink:NamedThing hemangioma of retina A hemangioma that involves the retina. tmpak2llvmy_mondo_relaxed.owl retina hemangioma|angioma of the retina|angioma of retina|hemangioma of the retina|retinal hemangioma|retinal angioma|retina angioma NCIT:C3634|ICD9:228.03|UMLS:C0154051|SCTID:93470007 owl:Class HGNC:2568 biolink:NamedThing MAMLD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0100526 biolink:NamedThing Neoplasm of the lung Tumor of the lung. tmpak2llvmy_mondo_relaxed.owl Lung cancer|Lung tumour|Lung tumor UMLS:C0024121|MSH:D008175|NCIT:C3262|SNOMEDCT_US:126713003 doelkens 2010-12-20T11:47:12Z human_phenotype owl:Class MONDO:0005870 biolink:NamedThing necatoriasis A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. tmpak2llvmy_mondo_relaxed.owl DOID:2790|ICD10:B76.1|NCIT:C34838|ICD9:126.9|UMLS:C0027528|EFO:0007390|SCTID:36667009|MESH:D009332 owl:Class MONDO:0004873 biolink:NamedThing internal hemorrhoid A hemorrhoid which originates above the dentate line. tmpak2llvmy_mondo_relaxed.owl internal hemorrhoid UMLS:C0265034|ICD9:455.6|SCTID:90458007|NCIT:C35319|DOID:9749|ICD9:455.2 owl:Class GO:0002710 biolink:NamedThing negative regulation of T cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. tmpak2llvmy_mondo_relaxed.owl downregulation of T cell mediated immunity|down-regulation of T cell mediated immunity|inhibition of T cell mediated immunity|negative regulation of T-lymphocyte mediated immunity|negative regulation of T-cell mediated immunity|down regulation of T cell mediated immunity|negative regulation of T lymphocyte mediated immunity owl:Class MONDO:0016497 biolink:NamedThing paraparetic variant of Guillain-Barre syndrome Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. tmpak2llvmy_mondo_relaxed.owl paraparetic variant of Guillain-Barré syndrome|paraparetic variant of GBS Orphanet:231445|UMLS:CN201500|ICD10:G61.0 owl:Class HGNC:3192 biolink:NamedThing EEF1A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030014 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 26 tmpak2llvmy_mondo_relaxed.owl LGMDR26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26|muscular dystrophy, limb-girdle, autosomal recessive 26 OMIM:618848 owl:Class NCBITaxon:129726 biolink:NamedThing Pseudocowpox virus tmpak2llvmy_mondo_relaxed.owl Pseudocowpoxvirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008990 biolink:NamedThing cleft larynx, posterior tmpak2llvmy_mondo_relaxed.owl Novak syndrome|stridor, congenital|laryngotracheoesophageal cleft pulmonary hypoplasia|cleft larynx, posterior Orphanet:2005|OMIM:215800|GARD:0004015 owl:Class GO:0033764 biolink:NamedThing steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0045121 biolink:NamedThing membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. tmpak2llvmy_mondo_relaxed.owl GEM domain|glycolipid-enriched membrane domain|lipid raft owl:Class UBERON:0013491 biolink:NamedThing cervical fascia Any fascia tissue that is part of the neck region. tmpak2llvmy_mondo_relaxed.owl fascia of neck owl:Class MONDO:0007913 biolink:NamedThing low density lipoprotein, variation in molecular weight of tmpak2llvmy_mondo_relaxed.owl LOW density lipoprotein, variation in molecular weight OF OMIM:152450 owl:Class UBERON:0010854 biolink:NamedThing skin of front of neck A skin of neck that is part of a throat. tmpak2llvmy_mondo_relaxed.owl skin of throat|skin of anterior part of neck|skin of anterior neck|skin of anterior portion of neck owl:Class CHEBI:38976 biolink:NamedThing alkylbenzene A monocyclic arene that is benzene substituted with one or more alkyl groups. tmpak2llvmy_mondo_relaxed.owl alkylbenzene|Alkylbenzol|alkylbenzenes owl:Class MONDO:0004444 biolink:NamedThing bladder tubulo-cystic clear cell adenocarcinoma A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. tmpak2llvmy_mondo_relaxed.owl bladder tubulo-cystic clear cell adenocarcinoma NCIT:C39847|DOID:8050|UMLS:C1511203 owl:Class MONDO:0001774 biolink:NamedThing posterior scleritis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155357|ICD9:379.07|SCTID:267660007|DOID:13676|ICD10:H15.03 owl:Class MONDO:0060510 biolink:NamedThing Cohen-Gibson syndrome tmpak2llvmy_mondo_relaxed.owl Cohen-Gibson syndrome|COGIS OMIM:617561|UMLS:C4479654 owl:Class MONDO:0020406 biolink:NamedThing complete atrioventricular canal-left heart obstruction syndrome tmpak2llvmy_mondo_relaxed.owl complete atrioventricular canal type A|CAVC type A|CAVC-left heart obstruction syndrome Orphanet:99066|ICD10:Q21.2|UMLS:CN207278 owl:Class HGNC:6692 biolink:NamedThing LRP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017503 biolink:NamedThing acheiria, bilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of hand, bilateral Orphanet:295103|SCTID:371189003|ICD10:Q71.3 owl:Class MONDO:0019585 biolink:NamedThing scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. tmpak2llvmy_mondo_relaxed.owl ICD10:L98.5|Orphanet:90400 owl:Class MONDO:0019447 biolink:NamedThing atypical lichen myxedematosus Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. tmpak2llvmy_mondo_relaxed.owl Intermediate lichen myxedematosus ICD10:L98.5|Orphanet:86797|UMLS:C4510874|SCTID:725148000 owl:Class MONDO:0030915 biolink:NamedThing intellectual disability, autosomal recessive 61 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 61|autosomal recessive mental retardation 61|mental retardation, autosomal recessive 61|Alwadei syndrome|MRT61|autosomal recessive intellectual disability 61 OMIM:617773|DOID:0080239|UMLS:CN651335 owl:Class MONDO:0008390 biolink:NamedThing Rombo syndrome Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. tmpak2llvmy_mondo_relaxed.owl vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis|Rombo syndrome Orphanet:3110|MESH:C535870|ICD10:L98.8|UMLS:C1867147|OMIM:180730|GARD:0004738|SCTID:721904001 https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome owl:Class HGNC:7744 biolink:NamedThing NEK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012535 biolink:NamedThing holoprosencephaly, recurrent infections, and monocytosis tmpak2llvmy_mondo_relaxed.owl holoprosencephaly, recurrent infections, and monocytosis MESH:C538328|GARD:0010055|UMLS:C1853187|OMIM:610680 https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis owl:Class MONDO:0001305 biolink:NamedThing laryngostenosis Narrowing of the laryngeal airway. tmpak2llvmy_mondo_relaxed.owl stenosis of larynx SCTID:75547007|HP:0001602|DOID:11527|ICD9:478.74|ICD10:J38.6|UMLS:C0023075|MESH:D007829 owl:Class MONDO:0007430 biolink:NamedThing dens evaginatus tmpak2llvmy_mondo_relaxed.owl dens evaginatus OMIM:125280|SCTID:63691004 owl:Class MONDO:0005146 biolink:NamedThing post-traumatic stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. tmpak2llvmy_mondo_relaxed.owl post-traumatic stress disorder|combat neurosis|traumatic neurosis|PTSD EFO:0001358|ICD10:F43.1|DOID:2055|ICD9:309.81|MESH:D013313|SCTID:47505003|NIFSTD:birnlex_12679|ICD10:F43.10|NCIT:C3389 owl:Class MONDO:0021465 biolink:NamedThing benign neoplasm of appendix A benign neoplasm that involves the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl benign tumor of the appendix|benign appendix tumor|benign appendix neoplasm|benign neoplasm of the appendix|vermiform appendix benign neoplasm|benign tumor of appendix UMLS:C0496860|ICD10:D12.1|SCTID:91981009|NCIT:C4773 owl:Class NCBITaxon:6178 biolink:NamedThing Trematoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014098 biolink:NamedThing CIDEC-related familial partial lipodystrophy tmpak2llvmy_mondo_relaxed.owl CIDEC-related familial partial lipodystrophy|lipodystrophy, familial partial, associated with Cidec mutations|lipodystrophy, familial partial, type 5|FPLD5|CIDEC-related FPLD ICD10:E88.1|GARD:0013125|DOID:0070203|UMLS:C3808940|OMIM:615238|Orphanet:435651 owl:Class MONDO:0012692 biolink:NamedThing renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies tmpak2llvmy_mondo_relaxed.owl renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies MESH:C566918|UMLS:C1969055|OMIM:611555 owl:Class MONDO:0008743 biolink:NamedThing Stimmler syndrome Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. tmpak2llvmy_mondo_relaxed.owl ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus|Stimmler syndrome SCTID:733072002|MESH:C565968|OMIM:202900|UMLS:C1859965|Orphanet:3199|GARD:0005026 owl:Class NCBITaxon:34630 biolink:NamedThing Rhipicephalus tmpak2llvmy_mondo_relaxed.owl Rhipicephalus GC_ID:1|PMID:14707501 ncbi_taxonomy owl:Class NCBITaxon:426437 biolink:NamedThing Rhipicephalinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003824 biolink:NamedThing hereditary kidney oncocytoma An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. tmpak2llvmy_mondo_relaxed.owl familial renal oncocytoma|hereditary renal oncocytoma|hereditary kidney oncocytoma NCIT:C8960|UMLS:C0879606|DOID:6244 owl:Class MONDO:0032579 biolink:NamedThing warburg-cinotti syndrome tmpak2llvmy_mondo_relaxed.owl WARBURG-CINOTTI SYNDROME|WRCN OMIM:618175 owl:Class MONDO:0019758 biolink:NamedThing midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. tmpak2llvmy_mondo_relaxed.owl MIHV|MIH|MIHF|MIH type HPE|Syntelencephaly|middle interhemispheric variant of holoprosencephaly|middle interhemispheric fusion variant UMLS:CN206692|Orphanet:93926|ICD10:Q04.2 owl:Class HGNC:218 biolink:NamedThing ADAMTS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008254 biolink:NamedThing platelet disorder, undefined tmpak2llvmy_mondo_relaxed.owl platelet disorder, undefined UMLS:C1868258|OMIM:173420|MESH:C566799 owl:Class MONDO:0006754 biolink:NamedThing esophageal diverticulosis A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus. tmpak2llvmy_mondo_relaxed.owl MESH:D045723|DOID:13185|EFO:1000930|UMLS:C0917875 owl:Class MONDO:0012440 biolink:NamedThing migraine with or without aura, susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl migraine with pulsation|migraine with or without aura, susceptibility to, 10|migraine with or without aura, susceptibility to, type 10|Mgr10 OMIM:610208 owl:Class MONDO:0006219 biolink:NamedThing gallbladder small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl small cell carcinoma of gallbladder|small cell carcinoma of the gallbladder|Oat cell carcinoma of the gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder small cell NEC|Oat cell carcinoma of gallbladder|gall bladder small cell carcinoma|small cell carcinoma of gall bladder|gallbladder Oat cell carcinoma|gallbladder small cell carcinoma DOID:7133|UMLS:C1333759|EFO:1000266|NCIT:C6763 owl:Class GO:0016812 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006976 biolink:NamedThing somatostatinoma A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. tmpak2llvmy_mondo_relaxed.owl carcinoid somatostatinoma|malignant islet cell tumor|tumor of the Delta cells|somatostatin cell tumour|somatostatin-producing tumor|somatostatin cell tumor|Delta cell tumor|tumor of Delta cells|somatostatin producing tumor|somatostatin-secreting pancreatic neoplasm|Somatomedin-secreting carcinoid|somatostatin-producing NET|ampullary somatostatinoma|somatostatin cell neoplasm|somatostatin-producing neuroendocrine tumor|somatostatinoma EFO:1001187|SCTID:253006001|NCIT:C3379|DOID:4430|ICD9:235.5|UMLS:C0037661|ICD10:E16.8|MESH:D013005|MedDRA:10041329|GARD:0004900|Orphanet:97283|ICDO:8156/1 https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma owl:Class MONDO:0004861 biolink:NamedThing ophthalmia nodosa tmpak2llvmy_mondo_relaxed.owl UMLS:C0154775|ICD10:H16.24|DOID:9722|SCTID:12371008|ICD9:360.14 owl:Class NCBITaxon:7962 biolink:NamedThing Cyprinus carpio tmpak2llvmy_mondo_relaxed.owl common carp|carp|mirror carp|fancy carp|koi GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7961 biolink:NamedThing Cyprinus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002410 biolink:NamedThing pyeloureteritis cystica tmpak2llvmy_mondo_relaxed.owl ICD9:590.3|DOID:2743|UMLS:C0156254|ICD10:N28.85|SCTID:37779008 owl:Class MONDO:0044645 biolink:NamedThing familial monosomy 7 syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:495930 owl:Class MONDO:0020440 biolink:NamedThing persistent left superior vena cava connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. tmpak2llvmy_mondo_relaxed.owl left superior caval vein persisting to the left-sided atrium|persistent left SVC connecting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium ICD10:Q26.1|Orphanet:99109 owl:Class CHEBI:33433 biolink:NamedThing monoatomic halogen tmpak2llvmy_mondo_relaxed.owl monoatomic halogens owl:Class HGNC:19414 biolink:NamedThing DPY19L2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007985 biolink:NamedThing metatarsus varus, type 1 tmpak2llvmy_mondo_relaxed.owl metatarsus varus, type I MESH:C563585|OMIM:156520|UMLS:C1834968 owl:Class CL:0000357 biolink:NamedThing stratified epithelial stem cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0005848 biolink:NamedThing miliary tuberculosis I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. tmpak2llvmy_mondo_relaxed.owl acute miliary tuberculosis|disseminated tuberculosis|tuberculosis miliaris disseminata|generalized tuberculosis ICD9:018.90|ICD9:018.9|MESH:D014391|DOID:9861|ICD9:018|UMLS:C0152915|SCTID:47604008|UMLS:C0041321|NCIT:C35086|EFO:0007368|ICD10:A19|ICD10:A19.9|ICD9:018.80 owl:Class MONDO:0023275 biolink:NamedThing Graham-Boyle-Troxell syndrome Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. tmpak2llvmy_mondo_relaxed.owl cystic hamartoma of lung and kidney|cystic hamartomata of lung and kidney|graham Boyle Troxell syndrome|Graham-Boyle-Troxell syndrome ICD10:Q85.8|GARD:0002557|ICD9:759.6|SCTID:707530009|UMLS:C2931468|Orphanet:2111|MESH:C537292 https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome owl:Class MONDO:0009102 biolink:NamedThing diaminopentanuria tmpak2llvmy_mondo_relaxed.owl Diaminopentanuria|cystine-lysinuria OMIM:222350|UMLS:C1857285|MESH:C565630 owl:Class MONDO:0014216 biolink:NamedThing primary ciliary dyskinesia 28 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in SPAG1|ciliary dyskinesia, primary, 28|primary ciliary dyskinesia type 28|SPAG1 primary ciliary dyskinesia|primary ciliary dyskinesia 28 with or without situs inversus|CILD28|ciliary dyskinesia, primary, 28, with or without situs inversus|ciliary dyskinesia, primary, type 28 OMIM:615505|ICD10:Q34.8|UMLS:C3809706|DOID:0110607 owl:Class HGNC:21734 biolink:NamedThing LHX4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010292 biolink:NamedThing Uruguay Faciocardiomusculoskeletal syndrome tmpak2llvmy_mondo_relaxed.owl FCMSU|faciocardiomusculoskeletal syndrome, Uruguay type|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome|Uruguay Faciocardiomusculoskeletal syndrome|Fcms OMIM:300280|UMLS:C1846010|MESH:C564544 owl:Class ENVO:01001614 biolink:NamedThing ice-bearing permafrost Permafrost which contains inclusions of water-based ice. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11920 biolink:NamedThing FAS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022323 biolink:NamedThing 2-hydroxyethyl methacrylate sensitization tmpak2llvmy_mondo_relaxed.owl 2-HEMA sensitization|sensitization to 2-hydroxyethyl methacrylate UMLS:C2930873|GARD:0008635|MESH:C535305 https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization owl:Class CHEBI:62803 biolink:NamedThing fuel additive Any additive that enhances the efficiency of fuel. tmpak2llvmy_mondo_relaxed.owl fuel additives|fuel enhancer owl:Class MONDO:0043139 biolink:NamedThing microcephaly sparse hair intellectual disability seizures tmpak2llvmy_mondo_relaxed.owl UMLS:C2931530|GARD:0003633|MESH:C537545 owl:Class MONDO:0024971 biolink:NamedThing parturient paresis A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. tmpak2llvmy_mondo_relaxed.owl animal milk fever|paresis, parturient|milk fever, animal|parturient Pareses|Pareses, parturient|fever, animal milk MESH:D010319|SCTID:405256006|UMLS:C0030612 owl:Class MONDO:0011158 biolink:NamedThing autoimmune lymphoproliferative syndrome type 1 tmpak2llvmy_mondo_relaxed.owl ALPS|autoimmune lymphoproliferative syndrome type 1|autoimmune lymphoproliferative syndrome, type 1A|autoimmune lymphoproliferative syndrome, type I, autosomal recessive|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome|Canale-Smith syndrome|autoimmune lymphoproliferative syndrome, type 1B SCTID:702444009|ICD9:279.41|OMIM:601859 owl:Class ENVO:09200012 biolink:NamedThing temperature of soil The temperature of some soil. tmpak2llvmy_mondo_relaxed.owl soil temperature owl:Class MONDO:0010583 biolink:NamedThing Dyggve-Melchior-Clausen syndrome, X-linked X-linked form of Dyggve-Melchior-Clausen disease. tmpak2llvmy_mondo_relaxed.owl X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome, X-linked|Dyggve-Melchior-Clausen disease, X-linked UMLS:C1844654|OMIM:304950 owl:Class MONDO:0006748 biolink:NamedThing epilepsia partialis continua A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) tmpak2llvmy_mondo_relaxed.owl ICD9:345.70|MESH:D017036|ICD9:345.7|EFO:1000924|SCTID:241006|MedDRA:10015034 owl:Class MONDO:0018447 biolink:NamedThing chondromyxoid fibroma An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. tmpak2llvmy_mondo_relaxed.owl Chondromyxoid fibroma ICDO:9241/0|EFO:0000332|Orphanet:404507|NCIT:C3830|ICD10:D16.9|UMLS:C0221290 owl:Class MONDO:0011393 biolink:NamedThing hypoalphalipoproteinemia, primary, 1 Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. tmpak2llvmy_mondo_relaxed.owl HDLD|hypoalphalipoproteinemia, familial|FHA|high density lipoprotein deficiency|hypoalphalipoproteinemia, primary|FHD|HDL cholesterol, Low serum|familial HDL deficiency GARD:0002872|OMIM:604091 owl:Class MONDO:0054729 biolink:NamedThing spermatogenic failure 25 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 25|SPGF25 OMIM:617960 owl:Class MONDO:0001175 biolink:NamedThing immature cataract A cataract disease in which the cataract contains some transparent protein tmpak2llvmy_mondo_relaxed.owl incipient cataract|incipient senile cataract|water clefts UMLS:C2960113|UMLS:C2939157|UMLS:C0271163|DOID:10997|ICD10:H25.09|SCTID:446474007 owl:Class MONDO:0020497 biolink:NamedThing Turcot syndrome with polyposis Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. tmpak2llvmy_mondo_relaxed.owl Orphanet:99818|ICD10:D12.6|UMLS:CN207386 owl:Class MONDO:0032630 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 26 tmpak2llvmy_mondo_relaxed.owl MC1DN26|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 OMIM:618247 owl:Class GO:0042645 biolink:NamedThing mitochondrial nucleoid The region of a mitochondrion to which the DNA is confined. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007480 biolink:NamedThing dwarfism with stiff joints and ocular abnormalities tmpak2llvmy_mondo_relaxed.owl dwarfism with stiff joints and ocular abnormalities|Moore-Federman syndrome Orphanet:2569|ICD9:759.89|MESH:C535724|OMIM:127200|SCTID:72913007 owl:Class CL:0000937 biolink:NamedThing pre-natural killer cell Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins. tmpak2llvmy_mondo_relaxed.owl pre-NK cell These cells are also reportedly CD7-low, CD10-negative, CD45RA-positive, alpha-4-beta-7 integrin-high. cell owl:Class ENVO:04000006 biolink:NamedThing concentration of carbon dioxide in seawater The concentration of carbon dioxide when measured in seawater. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044622 biolink:NamedThing EMILIN-1-related connective tissue disease tmpak2llvmy_mondo_relaxed.owl Orphanet:485418 owl:Class MONDO:0016503 biolink:NamedThing congenital erosive and vesicular dermatosis tmpak2llvmy_mondo_relaxed.owl CEVD|congenital erosive and vesicular dermatosis with reticulated supple scarring Orphanet:231573 owl:Class MONDO:0019604 biolink:NamedThing acquired monoclonal Ig light chain-associated Fanconi syndrome Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. tmpak2llvmy_mondo_relaxed.owl acquired Fanconi syndrome secondary to monoclonal gammopathy|acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome UMLS:C4510369|UMLS:CN206457|SCTID:724099000|Orphanet:91136|ICD10:E72.0 owl:Class HGNC:10387 biolink:NamedThing RPS14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009584 biolink:NamedThing intellectual disability, Buenos-Aires type Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. tmpak2llvmy_mondo_relaxed.owl intellectual disability Buenos Aires type|intellectual deficit Buenos-Aires type|mental retardation Buenos Aires type|intellectual disability, Buenos Aires type|mental retardation, Buenos Aires type|Mutchinick syndrome SCTID:725906006|UMLS:C0796080|OMIM:249630|GARD:0003485|MESH:C563095|ICD10:Q87.8|Orphanet:3079 https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type owl:Class MONDO:0000819 biolink:NamedThing anencephaly A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. tmpak2llvmy_mondo_relaxed.owl anencephalus OMIMPS:206500|NCIT:C84560|ICD10:00.0|DOID:0060668 owl:Class MONDO:0020562 biolink:NamedThing pleomorphic liposarcoma Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma. tmpak2llvmy_mondo_relaxed.owl PLS|pleomorphic liposarcoma (morphologic abnormality)|pleomorphic liposarcoma|PLLS ICDO:8854/3|EFO:0003083|NCIT:C3705|ICD9:171.9|DOID:5702|ICD10:C49.9|SCTID:404071006|UMLS:C0205825|Orphanet:99969|ONCOTREE:PLLS owl:Class ENVO:01001319 biolink:NamedThing saline water body A body of water which is primarily composed of saline water. tmpak2llvmy_mondo_relaxed.owl saline body of water owl:Class MONDO:0020517 biolink:NamedThing eosinophilic granuloma A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. tmpak2llvmy_mondo_relaxed.owl eosinophilic xanthomatous granuloma|Monostotic Langerhans cell histiocytosis|chronic unifocal Langerhans cell histiocytosis|unifocal Langerhans cell histiocytosis|eosinophilic granuloma|chronic and localized Langerhans cell histiocytosis ICD10:C96.6|SCTID:129000002|Orphanet:99871|MedDRA:10014956|MESH:D004803|ICDO:9752/1|NCIT:C3016|ICD9:277.89|UMLS:C0014461 owl:Class HP:0012757 biolink:NamedThing Abnormal neuron morphology A structural anomaly of a neuron. tmpak2llvmy_mondo_relaxed.owl Abnormal neuron shape|Abnormal neuronal morphology UMLS:C4022739 peter 2014-04-02T05:12:30Z human_phenotype owl:Class MONDO:0004106 biolink:NamedThing testicular yolk sac tumor, macrocystic pattern A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. tmpak2llvmy_mondo_relaxed.owl testicular yolk sac tumor, macrocystic pattern|macrocystic pattern testicular yolk sac tumor DOID:7097|NCIT:C39924|UMLS:C1515307 owl:Class GO:0003091 biolink:NamedThing renal water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. tmpak2llvmy_mondo_relaxed.owl water homeostasis by the renal system owl:Class HP:0100658 biolink:NamedThing Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. tmpak2llvmy_mondo_relaxed.owl Skin infections|Skin infection|Bacterial infection of skin UMLS:C0007642|MSH:D002481|MSH:D017192|SNOMEDCT_US:128936008|UMLS:C0162627|SNOMEDCT_US:385627004|SNOMEDCT_US:128045006 In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. doelkens 2010-12-30T10:11:51Z HP:0003553 human_phenotype owl:Class MONDO:0044784 biolink:NamedThing myxoma A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. tmpak2llvmy_mondo_relaxed.owl MYXOMA, BENIGN|Myxoma NCIT:C6577|SCTID:404082003|ONCOTREE:MYXO owl:Class UBERON:0010075 biolink:NamedThing sacral neural crest One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:688353 biolink:NamedThing Lichtheimia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0008395 biolink:NamedThing steroid hydroxylase activity Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. tmpak2llvmy_mondo_relaxed.owl olfactory-specific steroid hydroxylase activity|cytochrome P450 CYP2G1 owl:Class MONDO:0014127 biolink:NamedThing oculocutaneous albinism type 5 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. tmpak2llvmy_mondo_relaxed.owl OCA5|albinism, oculocutaneous, type V|oculocutaneous albinism type V SCTID:722057000|ICD10:E70.3|Orphanet:370091|UMLS:CN204842|OMIM:615312|DOID:0070099 owl:Class MONDO:0022662 biolink:NamedThing carpo tarsal osteolysis recessive tmpak2llvmy_mondo_relaxed.owl GARD:0001129 https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive owl:Class MONDO:0011580 biolink:NamedThing cerebellar ataxia and hypergonadotropic hypogonadism tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia and hypergonadotropic hypogonadism OMIM:605672|MESH:C565308|UMLS:C1854064 owl:Class UBERON:0003590 biolink:NamedThing main bronchus connective tissue A portion of connective tissue that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl primary bronchus mesenchyme|connective tissue of main bronchus|bronchus principalis textus connectivus|connective tissue of primary bronchus|bronchus principalis portion of connective tissue|connective tissue of bronchus principalis|connective tissue of principal bronchus|principal bronchus mesenchyme|bronchus principalis connective tissue owl:Class MONDO:0014854 biolink:NamedThing autosomal dominant nonsyndromic deafness 66 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|deafness, autosomal dominant type 66|DFNA66|autosomal dominant deafness 66|deafness, autosomal dominant 66|CD164 autosomal dominant nonsyndromic deafness ICD10:H90.3|OMIM:616969|DOID:0110587|UMLS:C4283893 owl:Class HGNC:7455 biolink:NamedThing MT-ND1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19016 biolink:NamedThing TRIM44 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009331 biolink:NamedThing isolated hemihyperplasia Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma. tmpak2llvmy_mondo_relaxed.owl isolated hemihypertrophy|Hemicorporal hypertrophy|hemihypertrophy, isolated|hemi 3 syndrome|hemihyperplasia, isolated|hemihyperplasia|IH|hemi-3 syndrome ICD10:Q87.3|OMIM:235000|MedDRA:10019463|Orphanet:2128|UMLS:C1856184|GARD:0002630|MESH:C565524 owl:Class GO:0009156 biolink:NamedThing ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl ribonucleoside monophosphate formation|ribonucleoside monophosphate anabolism|ribonucleoside monophosphate biosynthesis|ribonucleoside monophosphate synthesis owl:Class MONDO:0019164 biolink:NamedThing 6q terminal deletion syndrome 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. tmpak2llvmy_mondo_relaxed.owl Orphanet:75857|UMLS:CN205719|UMLS:C4304514|SCTID:719666002|ICD10:Q93.5 owl:Class NCBITaxon:29908 biolink:NamedThing Sporothrix schenckii tmpak2llvmy_mondo_relaxed.owl Rhinocladium schenckii|Sporotrichum schenckii GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29907 biolink:NamedThing Sporothrix tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013629 biolink:NamedThing intellectual disability, autosomal recessive 16 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 16|intellectual disability, autosomal recessive 16|MRT16 UMLS:C3280154|OMIM:614208 owl:Class MONDO:0022011 biolink:NamedThing bobble-head doll syndrome Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. tmpak2llvmy_mondo_relaxed.owl BHDS|bobble head doll syndrome MESH:C536241|GARD:0009731 https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome owl:Class MONDO:0007152 biolink:NamedThing arrhythmogenic right ventricular dysplasia 1 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene. tmpak2llvmy_mondo_relaxed.owl ARVD1|arrhythmogenic right ventricular dysplasia, familial, type 1|Uhl anomaly|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|arrhythmogenic right ventricular cardiomyopathy 1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular dysplasia, familial, 1|arrhythmogenic right ventricular dysplasia type 1|ARVC1|TGFB3 arrhythmogenic right ventricular cardiomyopathy|cardiomyopathy, right ventricular dilated UMLS:C1862511|OMIM:107970|ICD10:I42.8|ICD10:Q24.8|DOID:0110070 owl:Class HGNC:33778 biolink:NamedThing MYMK tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003506 biolink:NamedThing chest blood vessel A blood vessel that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of front of thorax|blood vessel of anterior thoracic region|front of thorax blood vessel|anterolateral part of thorax blood vessel|blood vessel of anterolateral part of thorax|anterior thoracic region blood vessel|blood vessel of chest owl:Class CL:0000948 biolink:NamedThing IgE memory B cell A class switched memory B cell that expresses IgE on the cell surface. tmpak2llvmy_mondo_relaxed.owl memory IgE B cell|IgE memory B-cell|memory IgE B lymphocyte|memory IgE B-cell|IgE memory B lymphocyte|memory IgE B-lymphocyte|IgE memory B-lymphocyte cell owl:Class NCBITaxon:42407 biolink:NamedThing Neotoma tmpak2llvmy_mondo_relaxed.owl wood rats|pack rats|trade rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019665 biolink:NamedThing monostotic fibrous dysplasia Fibrous dysplasia of bone involving only one bone. tmpak2llvmy_mondo_relaxed.owl monostotic fibrous dysplasia (disease)|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia|monostotic fibrous dysplasia of bone monostotic fibrous dysplasia (disease) NCIT:C53971|ICD10:M85.0|Orphanet:93277|MESH:D005358|SCTID:89859004|UMLS:C0016064|HP:0010736|ICD9:733.29|ICD10:Q78.1 owl:Class MONDO:0000845 biolink:NamedThing fibrous dysplasia A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. tmpak2llvmy_mondo_relaxed.owl fibrous dysplasia of bone MedDRA:10016664|NCIT:C34609|SCTID:10623005|Orphanet:249|MESH:D005357|GARD:0006444|SCTID:254145001|ICD9:733.29|ICD10:Q78.1|DOID:0080031 owl:Class NCBITaxon:118968 biolink:NamedThing Coxiellaceae tmpak2llvmy_mondo_relaxed.owl Coxiella group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class HP:0011792 biolink:NamedThing Neoplasm by histology Neoplasm categorized according to type of histological abnormality. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023186 peter 2012-04-22T06:57:50Z human_phenotype owl:Class MONDO:0017104 biolink:NamedThing central nervous system cystic malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:269194 owl:Class MONDO:0016422 biolink:NamedThing autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. tmpak2llvmy_mondo_relaxed.owl APS3|polyglandular autoimmune syndrome type 3|autoimmune polyendocrine syndrome type 3|PAS3|APS type 3|autoimmune polyglandular syndrome type 3 UMLS:C3266027|ICD10:E31.0|Orphanet:227982|SCTID:449731009|ICD9:258.1|UMLS:C1535942|GARD:0010980 owl:Class MONDO:0010710 biolink:NamedThing Pierre Robin syndrome-faciodigital anomaly syndrome This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. tmpak2llvmy_mondo_relaxed.owl Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin sequence with facial and digital anomalies|Pierre Robin syndrome, faciodigital anomaly|Chitayat Meunier Hodgkinson syndrome|Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome ICD10:Q87.8|GARD:0001274|UMLS:C2931064|Orphanet:2888|SCTID:723461007|OMIM:311895|MESH:C535926 https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome owl:Class MONDO:0044302 biolink:NamedThing congenital heart defects, dysmorphic facial features, and intellectual developmental disorder tmpak2llvmy_mondo_relaxed.owl CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder OMIM:617360|UMLS:C4479246 owl:Class MONDO:0005705 biolink:NamedThing clonorchiasis Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl Oriental liver fluke disease ICD9:121.1|UMLS:C0009021|MESH:D003003|DOID:13767|EFO:0007210|ICD10:B66.1|SCTID:11938002 owl:Class MONDO:0007891 biolink:NamedThing familial generalized lentiginosis Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. tmpak2llvmy_mondo_relaxed.owl lentiginosis profusa|familial multiple lentigines syndrome without systemic involvement|lentiginosis, diffuse|lentiginosis, inherited patterned|familial lentigines profusa|lentiginosis, generalized MESH:C573023|UMLS:C3492944|Orphanet:231040|ICD10:L81.4|SCTID:765195000|UMLS:CN201466|OMIM:151001 owl:Class UBERON:0004861 biolink:NamedThing right lung alveolus An alveolus that is part of a right lung [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl alveolus of right lung owl:Class UBERON:0014891 biolink:NamedThing brainstem white matter White matter that is part of a brainstem [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl brainstem tract/commissure|brain stem white matter|brainstem tracts and commissures|brainstem tracts owl:Class HP:0002103 biolink:NamedThing Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. tmpak2llvmy_mondo_relaxed.owl Abnormality of the pleura UMLS:C4025726 human_phenotype owl:Class MONDO:0017476 biolink:NamedThing upper limb hypertrophy tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.0|Orphanet:295049 owl:Class MONDO:0017431 biolink:NamedThing non-syndromic limb overgrowth tmpak2llvmy_mondo_relaxed.owl limb overgrowth Orphanet:294953 owl:Class MONDO:0002558 biolink:NamedThing melanotic neurilemmoma A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. tmpak2llvmy_mondo_relaxed.owl pigmented schwannoma|melanotic schwannoma|pigmented neurilemmoma|melanocytic schwannoma|melanotic neurinoma|MSCHW|melanotic schwannoma (morphologic abnormality)|melanocytic neurilemmoma DOID:3205|UMLS:C1306247|NCIT:C6970|ONCOTREE:MSCHW|SCTID:404024000|ICD9:215.8 owl:Class MONDO:0001733 biolink:NamedThing occlusion of tributary of retinal vein tmpak2llvmy_mondo_relaxed.owl venous tributary (branch) occlusion of retina|venous tributary occlusion of retina|venous tributary branch occlusion of retina DOID:13514|ICD9:362.36 owl:Class MONDO:0002303 biolink:NamedThing central retinal vein occlusion Blockage of the central retinal vein. tmpak2llvmy_mondo_relaxed.owl central retinal Venous occlusion|central retinal vein retinal vein occlusion|retinal vein occlusion of central retinal vein ICD10:H34.81|NCIT:C118859|Orphanet:411527|UMLS:C0154841|ICD9:362.35|SCTID:68478007|DOID:2450 owl:Class UBERON:0005491 biolink:NamedThing glossopharyngeal neural crest Cranial neural crest which gives rise to the glossopharyngeal ganglion. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411607 biolink:NamedThing nut or edible seed producing plant tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411047 biolink:NamedThing grain or seed-producing plant tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024685 biolink:NamedThing Philadelphia-positive myelogenous leukemia tmpak2llvmy_mondo_relaxed.owl Ph1-positive myelocytic leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive myelogenous leukemia|Philadelphia-positive myeloid leukemia|Ph1-positive myeloid leukemia|Philadelphia-positive granulocytic leukemia|Ph1-positive granulocytic leukemia|Philadelphia-positive myelocytic leukemia NCIT:C3177|UMLS:C0023476 owl:Class HGNC:14897 biolink:NamedThing ITPKC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001299 biolink:NamedThing diabetic autonomic neuropathy Autonomic neuropathy that is caused by diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl SCTID:50620007|DOID:11503|UMLS:C0271686|NCIT:C27068|ICD9:337.1 owl:Class MONDO:0020716 biolink:NamedThing familial thyroid dyshormonogenesis 1 tmpak2llvmy_mondo_relaxed.owl TDH1|hypothyroidism, congenital, due to dyshormonogenesis, 1|thyroid dyshormonogenesis 1|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis type 1|iodine accumulation, transport, or trapping defect OMIM:274400 owl:Class HGNC:1509 biolink:NamedThing CASP8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030909 biolink:NamedThing intellectual disability, X-linked, syndromic, Houge type tmpak2llvmy_mondo_relaxed.owl syndromic X-linked intellectual disability Hough type|mental retardation, X-linked, syndromic, Houge type|syndromic X-linked mental retardation Hough type|MRXSHG|mental retardation, X-linked, syndromic, HOUGE type|intellectual disability, X-linked, syndromic, HOUGE type|intellectual disability, X-linked, syndromic, Houge type OMIM:301008|DOID:0080242|UMLS:CN679647 owl:Class MONDO:0011332 biolink:NamedThing Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin tmpak2llvmy_mondo_relaxed.owl Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin OMIM:603529|UMLS:C3807235 owl:Class CL:0002118 biolink:NamedThing CD38-negative IgG-negative class switched memory B cell A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0030861 biolink:NamedThing osteogenesis imperfecta, type 21 tmpak2llvmy_mondo_relaxed.owl OI21|osteogenesis imperfecta, TYPE XXI OMIM:619131 owl:Class PATO:0002103 biolink:NamedThing infiltrative A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area. tmpak2llvmy_mondo_relaxed.owl infiltrating owl:Class MONDO:0007151 biolink:NamedThing arms, malformation of tmpak2llvmy_mondo_relaxed.owl arms, malformation of MESH:C566258|OMIM:107900 owl:Class MONDO:0060783 biolink:NamedThing classic congenital adrenal hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. tmpak2llvmy_mondo_relaxed.owl classic CAH|classic congenital adrenal hyperplasia UMLS:C4329672|NCIT:C131423 owl:Class ENVO:00000248 biolink:NamedThing glacial valley A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section. tmpak2llvmy_mondo_relaxed.owl valley owl:Class MONDO:0000087 biolink:NamedThing polymicrogyria A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. tmpak2llvmy_mondo_relaxed.owl MESH:D065706|GARD:0012271|SCTID:4945003|ICD10:Q04.3|Orphanet:35981|NCIT:C116936|UMLS:C0266464 owl:Class UBERON:0002307 biolink:NamedThing choroid plexus of lateral ventricle Part of choroid plexus contained in the lateral ventricle tmpak2llvmy_mondo_relaxed.owl lateral ventricle choroid plexus|chorioid plexus of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere|choroid plexus telencephalic ventricle|chorioid plexus of cerebral hemisphere of lateral ventricle owl:Class MONDO:0008441 biolink:NamedThing spastic paraplegia with associated extrapyramidal signs tmpak2llvmy_mondo_relaxed.owl spastic paraplegia with associated extrapyramidal signs MESH:C566681|OMIM:182800|UMLS:C1866852 owl:Class MONDO:0020487 biolink:NamedThing Pontiac fever Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. tmpak2llvmy_mondo_relaxed.owl MedDRA:10054161|DOID:0050150|UMLS:C0343528|SCTID:240447002|Orphanet:99748|ICD10:A48.2|NCIT:C128335|ICD9:041.89 owl:Class MONDO:0100078 biolink:NamedThing resistant hypertension A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective. tmpak2llvmy_mondo_relaxed.owl drug resistant hypertension owl:Class MONDO:0019972 biolink:NamedThing dural sinus malformation tmpak2llvmy_mondo_relaxed.owl cranial dural arteriovenous malformations|cranial dural arteriovenous fistula ICD10:Q28.3|Orphanet:97339 owl:Class HGNC:4336 biolink:NamedThing GLUD2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38500 biolink:NamedThing EC 1.9.3.1 (cytochrome c oxidase) inhibitor An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1). tmpak2llvmy_mondo_relaxed.owl complex IV (mitochondrial electron transport) inhibitors|EC 1.9.3.1 inhibitors|Warburg's respiratory enzyme inhibitors|ferrocytochrome c oxidase inhibitors|cytochrome c oxidase inhibitors|mitochondrial cytochrome-c oxidase inhibitors|indophenolase inhibitors|complex IV (mitochondrial electron transport) inhibitor|EC 1.9.3.1 inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitor|Warburg's respiratory enzyme inhibitor|mitochondrial complex IV inhibitors|NADH cytochrome c oxidase inhibitor|cytochrome c oxidase (EC 1.9.3.1) inhibitor|CcO inhibitor|indophenol oxidase inhibitor|cytochrome aa3 inhibitor|cytochrome a3 inhibitor|cytochrome a3 inhibitors|cytochrome oxidase inhibitor|cytochrome c oxidase inhibitor|mitochondrial complex IV inhibitor|NADH cytochrome c oxidase inhibitors|indophenol oxidase inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|cytochrome oxidase inhibitors|cytochrome aa3 inhibitors|cytochrome-c oxidase inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|cytochrome-c oxidase inhibitors|ferrocytochrome c oxidase inhibitor|indophenolase inhibitor owl:Class HGNC:18622 biolink:NamedThing COG7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016182 biolink:NamedThing qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of protein POMGNT1 Orphanet:209024 owl:Class MONDO:0030931 biolink:NamedThing proteasome-associated autoinflammatory syndrome 4 tmpak2llvmy_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 4|PRAAS4 OMIM:619183 owl:Class MONDO:0007518 biolink:NamedThing edema, familial idiopathic, prepubertal tmpak2llvmy_mondo_relaxed.owl edema, familial idiopathic, prepubertal OMIM:129840|MESH:C565063|UMLS:C1851847 owl:Class MONDO:0001842 biolink:NamedThing uterine corpus dissecting leiomyoma A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. tmpak2llvmy_mondo_relaxed.owl Cotyledonoid dissecting leiomyoma|Sternberg tumor UMLS:C1519847|NCIT:C40172|DOID:13953 owl:Class MONDO:0007122 biolink:NamedThing anisocoria Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. tmpak2llvmy_mondo_relaxed.owl anisocoria|anisocoria (disease) anisocoria (disease) MESH:D015875|HP:0009916|SCTID:13045009|ICD9:379.41|OMIM:106240 owl:Class FOODON:03460130 biolink:NamedThing physical/chemical modification process A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0130 owl:Class MONDO:0007502 biolink:NamedThing ear pits, posterior helical tmpak2llvmy_mondo_relaxed.owl ear pits, posterior helical|posterior helical Ear pits|earlobe Indentations, posterior OMIM:128710 owl:Class MONDO:0015784 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 tmpak2llvmy_mondo_relaxed.owl UMLS:CN200366|ICD10:Q87.1|Orphanet:177904 owl:Class HP:0008207 biolink:NamedThing Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. tmpak2llvmy_mondo_relaxed.owl Primary adrenocortical failure|Addison disease|Addison's disease|Adrenocortical insufficiency SNOMEDCT_US:373662000|SNOMEDCT_US:386584007|UMLS:C0405580|MSH:D000224|SNOMEDCT_US:363732003|UMLS:C0001403 Deficiency of both glucocorticoids and mineralocorticoids. HP:0008252|HP:0000862|HP:0008219 human_phenotype owl:Class NCBITaxon:2732408 biolink:NamedThing Pisuviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005476 biolink:NamedThing atrioventricular node disease A disease involving the atrioventricular node. tmpak2llvmy_mondo_relaxed.owl disorder of atrioventricular node|atrioventricular node disease or disorder|disease or disorder of atrioventricular node|atrioventricular node disease|disease of atrioventricular node EFO:0005305 owl:Class GO:0030186 biolink:NamedThing melatonin metabolic process The chemical reactions and pathways involving melatonin (N-acetyl-5-methoxytryptamine). tmpak2llvmy_mondo_relaxed.owl melatonin metabolism owl:Class MONDO:0004140 biolink:NamedThing intermediate malignant teratoma An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. tmpak2llvmy_mondo_relaxed.owl malignant teratoma, intermediate (morphologic abnormality)|malignant teratoma, intermediate|Intermediate immature teratoma NCIT:C4288|DOID:7202|UMLS:C0334522|ICDO:9083/3 owl:Class MONDO:0009075 biolink:NamedThing Dandy-Walker malformation-postaxial polydactyly syndrome Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. tmpak2llvmy_mondo_relaxed.owl Pierquin syndrome|DWM with postaxial polydactyly|Dandy-Walker malformation with postaxial polydactyly MESH:C535771|SCTID:733094005|UMLS:C1857351|GARD:0001669|ICD10:Q87.8|Orphanet:1566|OMIM:220220 owl:Class MONDO:0016214 biolink:NamedThing pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. tmpak2llvmy_mondo_relaxed.owl Orphanet:210136|UMLS:CN200975 owl:Class NCBITaxon:168 biolink:NamedThing Treponema pallidum subsp. pertenue tmpak2llvmy_mondo_relaxed.owl yaws treponeme|Treponema pertenue|Treponema pallidum pertenue GC_ID:11 ncbi_taxonomy owl:Class MONDO:0020506 biolink:NamedThing ovarioleukodystrophy tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|Orphanet:99853|UMLS:C1847967 owl:Class MONDO:0008688 biolink:NamedThing WT limb-blood syndrome WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl WT limb-blood syndrome|WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WTsyndrome ICD10:D61.0|OMIM:194350|UMLS:C1327917|Orphanet:3466|MESH:C536751|SCTID:719019000|GARD:0000039 https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome owl:Class MONDO:0006428 biolink:NamedThing splenic diffuse large B-cell lymphoma A diffuse large B-cell lymphoma occurring in the spleen. tmpak2llvmy_mondo_relaxed.owl primary splenic diffuse large B-cell lymphoma|splenic diffuse large B-cell lymphoma NCIT:C7308|UMLS:C2018774|EFO:1000547 owl:Class GO:0002522 biolink:NamedThing leukocyte migration involved in immune response The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. tmpak2llvmy_mondo_relaxed.owl immune cell trafficking during immune response|leucocyte trafficking during immune response|leukocyte trafficking during immune response|leucocyte migration during immune response|immune cell migration during immune response owl:Class HGNC:7102 biolink:NamedThing MINPP1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1776223 biolink:NamedThing Gorgoderoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:27872 biolink:NamedThing Xiphidiata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class SO:0000663 biolink:NamedThing tRNA_encoding A region that can be transcribed into a transfer RNA (tRNA). tmpak2llvmy_mondo_relaxed.owl tRNA encoding owl:Class MONDO:0018885 biolink:NamedThing orbital leiomyoma Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:52994|UMLS:CN205236|ICD10:D31.6|SCTID:719045009|UMLS:C4305000 owl:Class MONDO:0010067 biolink:NamedThing splenoportal vascular anomalies tmpak2llvmy_mondo_relaxed.owl splenoportal vascular anomalies OMIM:271500|MESH:C562761|SCTID:234131004 owl:Class MONDO:0012034 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. tmpak2llvmy_mondo_relaxed.owl LGMD1F|muscular dystrophy limb-girdle type 1F|muscular dystrophy, limb-girdle, type 1F|limb-girdle muscular dystrophy type 1F DOID:0110304|Orphanet:55595|ICD10:G71.0|MESH:C564242|OMIM:608423|GARD:0012530|SCTID:719989007 owl:Class SO:0000669 biolink:NamedThing sequence_rearrangement_feature A feature where a segment of DNA has been rearranged from what it was in the parent cell. tmpak2llvmy_mondo_relaxed.owl sequence rearrangement feature owl:Class MONDO:0000457 biolink:NamedThing classical glioblastoma A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification. tmpak2llvmy_mondo_relaxed.owl glioblastoma classical subtype|classical glioblastoma UMLS:C3827253|NCIT:C111694|DOID:0050803 owl:Class GO:0030212 biolink:NamedThing hyaluronan metabolic process The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. tmpak2llvmy_mondo_relaxed.owl hyaluronan metabolism owl:Class UBERON:0004894 biolink:NamedThing alveolar wall A wall that contains the alveoli tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar wall|wall of pulmonary alveolus|pulmonary interalveolar septum|alveolus wall owl:Class ECTO:9000016 biolink:NamedThing exposure to hydrogen chloride An exposure to hydrogen chloride. tmpak2llvmy_mondo_relaxed.owl exposure to hydrogen chloride owl:Class UBERON:0003854 biolink:NamedThing spinal cord neural plate A neural plate that develops_from a future spinal cord. tmpak2llvmy_mondo_relaxed.owl neural plate of spinal cord owl:Class MONDO:0017513 biolink:NamedThing split foot, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295124|ICD10:Q72.7 owl:Class MONDO:0054730 biolink:NamedThing spermatogenic failure 26 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 26|SPGF26 OMIM:617961|UMLS:CN244573 owl:Class HGNC:16817 biolink:NamedThing ESS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032653 biolink:NamedThing cardiac-urogenital syndrome tmpak2llvmy_mondo_relaxed.owl CARDIAC-UROGENITAL SYNDROME|CUGS OMIM:618280 owl:Class HGNC:25737 biolink:NamedThing NHEJ1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012425 biolink:NamedThing corneal dystrophy, fuchs endothelial, 2 tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, late-onset|Fcd1 locus|corneal dystrophy, Fuchs endothelial, 2|FECD2 UMLS:C1857800|OMIM:610158 owl:Class MONDO:0007597 biolink:NamedThing factor VIII and Factor IX, combined deficiency of tmpak2llvmy_mondo_relaxed.owl factor VIII and Factor IX, combined deficiency of|factor 8 and Factor IX, combined deficiency of|F8F9D|factor VIII and factor IX, combined deficiency OF|familial multiple coagulation Factor deficiency 2 UMLS:C1851376|MESH:C565024|OMIM:134510 owl:Class MONDO:0025152 biolink:NamedThing non-human ape disease Diseases of chimpanzees, gorillas, and orangutans. tmpak2llvmy_mondo_relaxed.owl Pongidae disease|diseases, Pongidae|ape disease|diseases, ape|disease, Pongidae|disease, ape|Pongidae diseases UMLS:C0242635|MESH:D018420 owl:Class MONDO:0009284 biolink:NamedThing glutathione synthetase deficiency without 5-oxoprolinuria tmpak2llvmy_mondo_relaxed.owl GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM:231900|UMLS:C1856399|Orphanet:289849|MESH:C565545|ICD10:D55.1 owl:Class MONDO:0011703 biolink:NamedThing spongiform encephalopathy with neuropsychiatric features tmpak2llvmy_mondo_relaxed.owl spongiform encephalopathy with neuropsychiatric features UMLS:C1847650|OMIM:606688|MESH:C564678 owl:Class MONDO:0004607 biolink:NamedThing vallecula cancer A cancer involving a epiglottic vallecula. tmpak2llvmy_mondo_relaxed.owl malignant tumor of vallecula|epiglottic vallecula cancer|malignant epiglottic vallecula neoplasm|malignant neoplasm of epiglottic vallecula|cancer of epiglottic vallecula UMLS:C0153386|ICD10:C10.0|ICD9:146.3|SCTID:363395000|DOID:8556 owl:Class CHEBI:50630 biolink:NamedThing cyclooxygenase 1 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1. tmpak2llvmy_mondo_relaxed.owl cyclooxygenase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitor|PTGS1 inhibitors|prostaglandin H2 synthase 1 inhibitors|COX-1 inhibitor|cyclooxygenase-1 inhibitors|cyclo-oxygenase 1 inhibitors|cyclooxygenase-1 inhibitor|cyclo-oxygenase 1 inhibitor|COX-1 inhibitors|prostaglandin H2 synthase 1 inhibitor|prostaglandin G/H synthase 1 inhibitor|prostaglandin G/H synthase 1 inhibitors|PTGS1 inhibitor owl:Class MONDO:0015233 biolink:NamedThing caudal appendage-deafness syndrome Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. tmpak2llvmy_mondo_relaxed.owl Lynch Lee Murday syndrome|Lynch-Lee-Murday syndrome|caudal appendage deafness|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability Orphanet:1123|MESH:C537713|GARD:0001163|UMLS:C2931593|SCTID:726621009 https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness owl:Class HGNC:2594 biolink:NamedThing CYP19A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015041 biolink:NamedThing myelodysplastic syndrome with excess blasts-2 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) tmpak2llvmy_mondo_relaxed.owl RAEB-II|RAEB-2|myelodysplastic syndrome with Excess blasts-2|MDS-EB-2|refractory anemia with excess blasts type 2 UMLS:C1318551|Orphanet:100020|ICD10:D46.2|NCIT:C7168 owl:Class MONDO:0019454 biolink:NamedThing myelodysplastic syndrome with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. tmpak2llvmy_mondo_relaxed.owl myelodysplastic syndrome with Excess blasts|MDS-EB|RAEB|refractory Anemia with an Excess of blasts|refractory Anemia with Excess blasts ICD10:D46.2|EFO:0003811|NCIT:C7506|ICDO:9983/3|Orphanet:86839|SCTID:398623004|MESH:D000754|MedDRA:10038270|UMLS:C0002894 owl:Class MONDO:0016311 biolink:NamedThing Bockenheimer syndrome tmpak2llvmy_mondo_relaxed.owl genuine diffuse phlebectasia UMLS:CN201119|Orphanet:217008|GARD:0013063|ICD10:Q27.4 owl:Class MONDO:0008468 biolink:NamedThing spondyloarthropathy, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl spondyloarthropathy, susceptibility to, 2|SPDA2 OMIM:183840|UMLS:C1866738|DOID:0080604 owl:Class MONDO:0014595 biolink:NamedThing developmental and epileptic encephalopathy, 30 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 30|DEE30|EIEE30|SIK1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 30|early infantile epileptic encephalopathy caused by mutation in SIK1 OMIM:616341|UMLS:C4225360|DOID:0080465 owl:Class MONDO:0030293 biolink:NamedThing angioedema, hereditary, 5 tmpak2llvmy_mondo_relaxed.owl angioedema, hereditary, 5|HAE5 OMIM:619361 owl:Class MONDO:0043110 biolink:NamedThing jones hersh yusk syndrome tmpak2llvmy_mondo_relaxed.owl ptosis, ectropion, thin skin, beaked nose|aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis GARD:0003055|UMLS:C2931054|MESH:C535885 owl:Class MONDO:0007570 biolink:NamedThing erythema palmare hereditarium Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. tmpak2llvmy_mondo_relaxed.owl lane disease|erythema palmare hereditarium|Red palms disease OMIM:133000|Orphanet:231031|UMLS:C1851502|SCTID:763767006|MESH:C565041|ICD10:L59.8 owl:Class HGNC:21708 biolink:NamedThing CCM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008581 biolink:NamedThing malposition of teeth with or without hypodontia/oligodontia tmpak2llvmy_mondo_relaxed.owl ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia OMIM:189490 owl:Class HP:0000927 biolink:NamedThing Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. tmpak2llvmy_mondo_relaxed.owl Abnormality of skeletal maturation UMLS:C4025818 human_phenotype owl:Class MONDO:0003523 biolink:NamedThing gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. tmpak2llvmy_mondo_relaxed.owl malignant gastrinoma|G cell tumor|gastrin-producing NET|G-cell gastrin producing tumor|gastrinoma|gastrin cell tumour|gastrin secreting tumor|G-cell tumor|gastrin-producing neuroendocrine tumor DOID:5577|NCIT:C3050|UMLS:CN206461|ICDO:8153/1 owl:Class HP:0100799 biolink:NamedThing Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. tmpak2llvmy_mondo_relaxed.owl Middle ear tumor|Neoplasia of the middle ear|Middle ear tumour NCIT:C3262|SNOMEDCT_US:127006003|UMLS:C0345617 doelkens 2011-06-08T04:25:43Z human_phenotype owl:Class MONDO:0016197 biolink:NamedThing qualitative or quantitative defects of selenoprotein N1 tmpak2llvmy_mondo_relaxed.owl Orphanet:209193 owl:Class SO:0001235 biolink:NamedThing replicon A region containing at least one unique origin of replication and a unique termination site. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043982 biolink:NamedThing cubital tunnel syndrome Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) tmpak2llvmy_mondo_relaxed.owl syndromes, cubital tunnel|tunnel syndromes, cubital|cubital tunnel syndrome|cubital tunnel syndromes|syndrome, cubital tunnel|ulnar nerve compression, cubital tunnel|ulnar nerve entrapment, elbow|tunnel syndrome, cubital MESH:D020430|EFO:1001363|SCTID:56177003 owl:Class MONDO:0007876 biolink:NamedThing laryngeal abductor paralysis tmpak2llvmy_mondo_relaxed.owl laryngeal abductor paralysis|Gerhardt syndrome|familial vocal cord dysfunction|vocal cord dysfunction, familial|vocal cord dysfunction familial|Labd ICD9:748.3|GARD:0005509|OMIM:150260|ICD10:J38.0|SCTID:232442001|UMLS:CN202762|Orphanet:2808 Autosomal dominant based on information from Joanna. owl:Class MONDO:0002419 biolink:NamedThing transient tic disorder A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. tmpak2llvmy_mondo_relaxed.owl benign Tic disorder of childhood NCIT:C116767|SCTID:56573006|ICD9:307.21|DOID:2768|ICD10:F95.0 owl:Class HGNC:20474 biolink:NamedThing TMC8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016598 biolink:NamedThing autosomal recessive secondary polycythemia not associated with VHL gene tmpak2llvmy_mondo_relaxed.owl autosomal recessive secondary erythrocytosis, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene|autosomal recessive secondary polycythemia, non-Chuvash type Orphanet:247378|ICD10:D75.1|UMLS:CN226972 owl:Class UBERON:0003379 biolink:NamedThing cardiac muscle of right atrium A portion of cardiac muscle tissue that is part of a right atrium [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac muscle of cardiac right atrium|cardiac muscle tissue of right atrium|right atrium heart muscle|textus muscularis of myocardium of right cardiac atrium|myocardium of right atrium|cardiac muscle tissue of heart right atrium|textus muscularis of myocardium of right atrium of heart|cardiac muscle tissue of right atrium of heart|right atrium myocardium|textus muscularis of myocardium of right atrium|cardiac muscle of heart right atrium owl:Class MONDO:0023111 biolink:NamedThing familial capillaro-venous leptomeningeal angiomatosis tmpak2llvmy_mondo_relaxed.owl UMLS:C2931262|GARD:0009423|MESH:C536609 https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis owl:Class GO:0002520 biolink:NamedThing immune system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003522 biolink:NamedThing manual digit blood vessel A blood vessel that is part of a finger [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl digit of terminal segment of free upper limb blood vessel|terminal segment of free upper limb digit blood vessel|hand digit blood vessel|finger blood vessel|blood vessel of digit of terminal segment of free upper limb|blood vessel of terminal segment of free upper limb digit owl:Class MONDO:0008505 biolink:NamedThing surface antigen, glycoprotein 75 tmpak2llvmy_mondo_relaxed.owl surface antigen, glycoprotein type 75|surface glycoprotein 75|surface antigen, glycoprotein 75 OMIM:185540 owl:Class CL:0011027 biolink:NamedThing skeletal muscle fibroblast Any fibroblast that is part of skeletal muscle tissue. tmpak2llvmy_mondo_relaxed.owl skeleton muscle fibroblast owl:Class MONDO:0013299 biolink:NamedThing chromosome 6q11-q14 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 6Q13-q14 deletion syndrome|chromosome 6q11-q14 deletion syndrome OMIM:613544|DOID:0060423|UMLS:C3150790 owl:Class MONDO:0033968 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:529977 owl:Class PATO:0002072 biolink:NamedThing decreased affinity An affinity which is relatively low. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020390 biolink:NamedThing pulmonary artery coming from patent ductus arteriosus tmpak2llvmy_mondo_relaxed.owl Orphanet:99049|ICD10:Q25.7 owl:Class MONDO:0019760 biolink:NamedThing terminal transverse defects of arm tmpak2llvmy_mondo_relaxed.owl congenital limb amputation UMLS:C1857578|ICD10:Q79.8|Orphanet:93937 owl:Class CHEBI:47811 biolink:NamedThing penamcarboxylate tmpak2llvmy_mondo_relaxed.owl penamcarboxylates owl:Class MONDO:0008939 biolink:NamedThing isolated cerebellar hypoplasia/agenesis Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. tmpak2llvmy_mondo_relaxed.owl subtotal absence of cerebellum|cerebellar hypoplasia|Chiari 4 malformation|congenital cerebellar Hypoplasia|isolated cerebellar agenesis|Chiari IV malformation|near total absence of cerebellum SCTID:16026008|Orphanet:1398|OMIM:213000|NCIT:C98890|GARD:0001194|DOID:0070338|MedDRA:10008033|ICD10:Q04.3|MESH:C562568 owl:Class NCBITaxon:2497571 biolink:NamedThing Polyploviricotina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004088 biolink:NamedThing cervical basaloid carcinoma An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. tmpak2llvmy_mondo_relaxed.owl cervical basaloid carcinoma|cervical basaloid squamous cell carcinoma DOID:7046|UMLS:C1511063|NCIT:C40189 owl:Class MONDO:0003880 biolink:NamedThing ceruminous carcinoma An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. tmpak2llvmy_mondo_relaxed.owl ceruminous adenocarcinoma|ceruminous adenocarcinoma (morphologic abnormality)|carcinoma, ceruminous gland, malignant UMLS:C0334353|NCIT:C4176|ICDO:8420/3|DOID:6446 owl:Class GO:0060004 biolink:NamedThing reflex An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000950 biolink:NamedThing asthenopia Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. tmpak2llvmy_mondo_relaxed.owl accommodative strain UMLS:C0004095|MESH:D001248|ICD10:H53.14|DOID:10141 owl:Class GO:0010562 biolink:NamedThing positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008268 biolink:NamedThing polydactyly-myopia syndrome Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, with progressive myopia|postaxial polydactyly with progressive myopia|Czeizel Brooser syndrome|PMS|postaxial polydactyly-progressive myopia syndrome|Czeizel-Brooser syndrome|polydactyly myopia syndrome|polydactyly-myopia syndrome Orphanet:2917|OMIM:174310|MESH:C536331|GARD:0004413|ICD10:Q87.2|ICD9:625.4|SCTID:82639001 https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome owl:Class MONDO:0000208 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 1 tmpak2llvmy_mondo_relaxed.owl MSSGM1|MSSGM|microcephaly, short stature, and impaired glucose metabolism 1|microcephaly, short stature, and impaired glucose metabolism OMIM:616033|UMLS:C4014997 owl:Class MONDO:0009988 biolink:NamedThing retinoschisis of fovea tmpak2llvmy_mondo_relaxed.owl familial foveal retinoschisis|retinoschisis of fovea|foveal retinoschisis MESH:C538369|GARD:0009143|OMIM:268080|UMLS:C1849397 https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea owl:Class HGNC:23162 biolink:NamedThing ALG10 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000541 biolink:NamedThing melanoblast A cell that originates from the neural crest and differentiates into a pigment cell. tmpak2llvmy_mondo_relaxed.owl BTO:0003217|FMA:83377 Derived from UBERON:0002342 neural crest. cell owl:Class HP:0004337 biolink:NamedThing Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. tmpak2llvmy_mondo_relaxed.owl Amino acid levels abnormal UMLS:C1328440 peter 2008-03-08T07:53:00Z human_phenotype owl:Class HP:0032245 biolink:NamedThing Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. tmpak2llvmy_mondo_relaxed.owl 2019-01-27 12:48:52+00:00 peter human_phenotype owl:Class MONDO:0007963 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl melanoma, malignant|CMM1|melanoma, cutaneous malignant, susceptibility to, 1|melanoma, cutaneous malignant|melanoma, familial|B-K Mole syndrome|dysplastic Nevus syndrome, hereditary|familial atypical Mole-malignant melanoma syndrome SCTID:254819008|OMIM:155600 owl:Class MONDO:0007887 biolink:NamedThing leiomyoma of vulva and esophagus tmpak2llvmy_mondo_relaxed.owl leiomyoma of vulva and esophagus|leiomyomatosis, esophagogastric and vulvar|esophagogastric and vulvar leiomyomatosis UMLS:C1835488|OMIM:150700|MESH:C537006|GARD:0010097 https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus owl:Class MONDO:0015210 biolink:NamedThing syndromic gastroduodenal malformation A gastroduodenal malformation that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndrome associated with gastroduodenal malformation|syndromic gastroduodenal malformation UMLS:CN226627|Orphanet:108965 owl:Class CHEBI:33637 biolink:NamedThing ortho-fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. tmpak2llvmy_mondo_relaxed.owl ortho-fused compounds|ortho-fused polycyclic compounds owl:Class MONDO:0010844 biolink:NamedThing epiphyseal dysplasia, multiple, 2 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene. tmpak2llvmy_mondo_relaxed.owl multiple epiphyseal dysplasia 2|epiphyseal dysplasia multiple 2|epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2|epiphyseal dysplasia, multiple, type 2|COL9A2 multiple epiphyseal dysplasia (disease)|EDM2 OMIM:600204|UMLS:C1838429|GARD:0009791|DOID:0070298|MESH:C535502 https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2 owl:Class MONDO:0060777 biolink:NamedThing cervical fibroepithelial polyp A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium. tmpak2llvmy_mondo_relaxed.owl Cervical fibroepithelial polyp|uterine cervix fibroepithelial polyp NCIT:C40200|UMLS:C1516413 owl:Class CHEBI:33256 biolink:NamedThing primary amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpak2llvmy_mondo_relaxed.owl primary amide|primary amides owl:Class MONDO:0011490 biolink:NamedThing diffuse panbronchiolitis Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis tmpak2llvmy_mondo_relaxed.owl PBLT|panbronchiolitis, diffuse|DPb UMLS:C0878555|SCTID:430476004|MedDRA:10062952|ICD10:J44.8|ICD9:491.8|Orphanet:171700|GARD:0008526|OMIM:604809|MESH:C536174 https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis owl:Class MONDO:0004841 biolink:NamedThing kidney hypertrophy Global enlargement of the renal parenchyma in one or both kidneys. tmpak2llvmy_mondo_relaxed.owl renal Hypertrophy|hypertrophy of the kidney DOID:9622|UMLS:C0156259|NCIT:C122991|ICD10:N28.81|SCTID:88531004|ICD9:593.1 owl:Class HGNC:13797 biolink:NamedThing PRX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010697 biolink:NamedThing ophthalmoplegia, external, and myopia tmpak2llvmy_mondo_relaxed.owl OPEM|myopia-ophthalmoplegia syndrome|ophthalmoplegia, external, and myopia OMIM:311000|UMLS:C1839577|MESH:C564087 owl:Class MONDO:0022761 biolink:NamedThing chromosome 3 duplication syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:C2931333|MESH:C536803 owl:Class MONDO:0014957 biolink:NamedThing language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia tmpak2llvmy_mondo_relaxed.owl LADCI|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI|language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia OMIM:617182|UMLS:C4310678 owl:Class MONDO:0013233 biolink:NamedThing spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Handigodu type|Handigodu JOINT disease|Hjd ICD10:Q77.7|Orphanet:99642|UMLS:C3150545|OMIM:613343 owl:Class HGNC:19141 biolink:NamedThing TTBK2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0003398 biolink:NamedThing Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. tmpak2llvmy_mondo_relaxed.owl Abnormality of neuromuscular transmission UMLS:C4025618|UMLS:C4020842 human_phenotype owl:Class HP:0030191 biolink:NamedThing Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl Abnormal PNS synaptic transmission UMLS:C4021046 human_phenotype owl:Class CHEBI:23019 biolink:NamedThing carbonyl group tmpak2llvmy_mondo_relaxed.owl >C=O|carbonyl|carbonyl group owl:Class HGNC:5246 biolink:NamedThing HSPB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014341 biolink:NamedThing complex cortical dysplasia with other brain malformations 6 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. tmpak2llvmy_mondo_relaxed.owl complex cortical dysplasia with other brain malformations caused by mutation in TUBB|CDCBM56|TUBB complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 6|CDCBM6|complex cortical dysplasia with other brain malformations type 6|cortical dysplasia, complex, with other brain malformations 6 UMLS:C4014283|DOID:0090136|OMIM:615771 owl:Class MONDO:0007817 biolink:NamedThing IgE responsiveness, atopic Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. tmpak2llvmy_mondo_relaxed.owl type 1 hypersensitivity reaction|type 1 hypersensitivity|type I immediate hypersensitivity reaction|IgE, level of|IgE responsiveness, atopic|type I hypersensitivity reaction|atopy, susceptibility to|Immunoglobulin E, basic level of, in serum|IGER|Atopic hypersensitivity|type I hypersensitivity|immediate hypersensitivity|IgE response underlying allergic asthma and rhinitis|IgE responsiveness, ATOPIC|IgE, elevated level of OMIM:147050|UMLS:C1840253|NCIT:C3116 owl:Class MONDO:0008497 biolink:NamedThing Stormorken syndrome Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl thrombocytopathy, asplenia and miosis|Thrombocytopathy, asplenia, and miosis|york Platelet syndrome|STRMK|Thrombocytopathy-asplenia-miosis syndrome|Thrombocytopathy asplenia miosis|Stormorken syndrome|Stormorken-Sjaastad-Langslet syndrome ICD10:D69.8|MESH:C566108|UMLS:C1861451|OMIM:185070|Orphanet:3204|SCTID:711407000|GARD:0005188|ICD9:759.89|DOID:0060354 owl:Class MONDO:0007903 biolink:NamedThing Li-Fraumeni syndrome 1 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. tmpak2llvmy_mondo_relaxed.owl Li-Fraumeni syndrome type 1|TP53 Li-Fraumeni syndrome|LFS|LFS3|sarcoma family syndrome of 51 and Fraumeni|Li-Fraumeni syndrome|LFS1|Sbla syndrome|Li-Fraumeni-like syndrome|Li-Fraumeni syndrome caused by mutation in TP53|Li-Fraumeni syndrome 3|Li-Fraumeni syndrome 1 UMLS:C1835398|OMIM:609266|UMLS:C1836481|MESH:C563754|DOID:0111503|OMIM:151623 owl:Class NCBITaxon:91888 biolink:NamedThing lamiids tmpak2llvmy_mondo_relaxed.owl euasterids I PMID:12144762|GC_ID:1 NCBITaxon:41935 ncbi_taxonomy owl:Class GO:0019901 biolink:NamedThing protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:652611 biolink:NamedThing Pseudomonas aeruginosa PA14 tmpak2llvmy_mondo_relaxed.owl Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14 GC_ID:11 ncbi_taxonomy owl:Class CL:1001111 biolink:NamedThing kidney loop of Henle thin descending limb epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001054 cell owl:Class MONDO:0007044 biolink:NamedThing acrodysostosis 1 with or without hormone resistance An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. tmpak2llvmy_mondo_relaxed.owl ADOHR|acrodysostosis 1|acrodysostosis 1 with or without hormone resistance|ACRDYS1 NCIT:C136464|OMIM:101800|UMLS:C3276228 owl:Class MONDO:0002196 biolink:NamedThing perinatal intestinal perforation tmpak2llvmy_mondo_relaxed.owl DOID:2073|SCTID:65390006|ICD10:P78.0|UMLS:C0159006|ICD9:777.6 owl:Class MONDO:0006807 biolink:NamedThing intestinal perforation A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. tmpak2llvmy_mondo_relaxed.owl perforation of intestine|bowel perforation ICD9:569.83|NCIT:C39611|EFO:1000987|MESH:D007416|SCTID:56905009|MedDRA:10022694|UMLS:C0021845|ICD10:P78.0|ICD9:777.6|DOID:2074 owl:Class NCBITaxon:555864 biolink:NamedThing unclassified Bornaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:178830 biolink:NamedThing Bornaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:25449305 ncbi_taxonomy owl:Class GO:2000224 biolink:NamedThing regulation of testosterone biosynthetic process Any process that modulates the frequency, rate or extent of testosterone biosynthetic process. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004266 biolink:NamedThing anal gland adenocarcinoma An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of anal ducts|anal glands adenocarcinoma|adenocarcinoma of anal gland|adenocarcinoma of the anal gland UMLS:C1266027|ICDO:8215/3|NCIT:C5609|ONCOTREE:AGA|DOID:7531 owl:Class ENVO:01001747 biolink:NamedThing mass fluid flow tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014349 biolink:NamedThing pontocerebellar hypoplasia type 10 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene. tmpak2llvmy_mondo_relaxed.owl CLP1 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1|pontocerebellar hypoplasia, type 10|PCH10|CLP1-related pontocerebellar hypoplasia Orphanet:411493|DOID:0060279|ICD10:Q04.3|OMIM:615803|UMLS:C4014347 owl:Class CHEBI:33743 biolink:NamedThing manganese group molecular entity tmpak2llvmy_mondo_relaxed.owl manganese group molecular entities|manganese group molecular entity owl:Class NCBITaxon:5833 biolink:NamedThing Plasmodium falciparum tmpak2llvmy_mondo_relaxed.owl Plasmodium (Laverania) falciparum|malaria parasite P. falciparum GC_ID:1 ncbi_taxonomy owl:Class CHEBI:79020 biolink:NamedThing alpha,beta-unsaturated monocarboxylic acid A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. tmpak2llvmy_mondo_relaxed.owl 2,3-unsaturated monocarboxylic acid|2,3-unsaturated monocarboxylic acids|alpha,beta-unsaturated monocarboxylic acids owl:Class MONDO:0001327 biolink:NamedThing pelvic muscle wasting tmpak2llvmy_mondo_relaxed.owl ICD9:618.83|ICD10:N81.84|DOID:11629 owl:Class NCBITaxon:2826938 biolink:NamedThing Brucella/Ochrobactrum group tmpak2llvmy_mondo_relaxed.owl PMID:32373076|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:118882 biolink:NamedThing Brucellaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:2771 biolink:NamedThing CFD tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060765 biolink:NamedThing regulation of androgen receptor signaling pathway Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. tmpak2llvmy_mondo_relaxed.owl regulation of androgen receptor signalling pathway owl:Class MONDO:0017465 biolink:NamedThing congenital pseudoarthrosis of the radius tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of the radius ICD10:Q74.0|Orphanet:295024 owl:Class MONDO:0001363 biolink:NamedThing blind hypertensive eye tmpak2llvmy_mondo_relaxed.owl SCTID:264008|DOID:11776|ICD9:360.42|UMLS:C0154789 owl:Class MONDO:0100425 biolink:NamedThing acute myeloid leukemia, KRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.) tmpak2llvmy_mondo_relaxed.owl AML, KRAS gene mutation|AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KRAS2 Gene Mutation|AML, c-K-ras Gene Mutation|AML, KRAS Gene Mutation|AML, KRAS-2 Gene Mutation owl:Class MONDO:0013988 biolink:NamedThing congenital heart defects, multiple types, 3 tmpak2llvmy_mondo_relaxed.owl CHTD3|congenital heart defects, multiple types, 3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances OMIM:614954|UMLS:C3554194 owl:Class MONDO:0019024 biolink:NamedThing mast cell sarcoma A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) tmpak2llvmy_mondo_relaxed.owl MCSL|mast cell sarcoma|mast-cell sarcoma|MCS|sarcoma of mast cell Orphanet:66661|NCIT:C9348|ICDO:9740/3|ONCOTREE:MCSL|EFO:1000364|ICD10:C96.2|MESH:D012515|ICD9:202.6|DOID:355|UMLS:C0036221|SCTID:118615008 owl:Class HP:0001879 biolink:NamedThing Abnormal eosinophil morphology An abnormal count or structure of eosinophils. tmpak2llvmy_mondo_relaxed.owl Abnormality of eosinophils UMLS:C4025738 Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. human_phenotype owl:Class HP:0001911 biolink:NamedThing Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. tmpak2llvmy_mondo_relaxed.owl Abnormality of granulocytes SNOMEDCT_US:250274006|UMLS:C0427515 HP:0005438 human_phenotype owl:Class CL:1001577 biolink:NamedThing tonsil squamous cell Squamous cell of tonsil epithelium. tmpak2llvmy_mondo_relaxed.owl tonsillar squamous epithelial cell|tonsil squamous epithelial cell|tonsil squamous epithelial cells|tonsillar squamous cell CALOHA:TS-1253 owl:Class MONDO:0012737 biolink:NamedThing long QT syndrome 10 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome type 10|long QT syndrome 10|LQT10|long QT syndrome caused by mutation in SCN4B|atrial fibrillation, familial, 17|SCN4B long QT syndrome ICD10:I45.8|DOID:0110651|GARD:0010436|MESH:C567514|UMLS:C2678484|OMIM:611819 https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 owl:Class MONDO:0006067 biolink:NamedThing acinar prostate mucinous adenocarcinoma A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. tmpak2llvmy_mondo_relaxed.owl colloidal adenocarcinoma of prostate|colloid adenocarcinoma of prostate|colloid adenocarcinoma of the prostate|colloidal adenocarcinoma of the prostate|mucinous adenocarcinoma of prostate|colloidal prostate adenocarcinoma|prostate colloid adenocarcinoma|acinar colloid prostate adenocarcinoma|mucinous adenocarcinoma of the prostate DOID:3703|UMLS:C1335513|EFO:1000065|NCIT:C5537 owl:Class MONDO:0005347 biolink:NamedThing hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. tmpak2llvmy_mondo_relaxed.owl hypertriglyceridemia|hypertriglyceridemia (disease) hypertriglyceridemia (disease) SCTID:302870006|EFO:0004211|UMLS:C0020557|MESH:D015228|HP:0002155 owl:Class MONDO:0016865 biolink:NamedThing Kleefstra syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:261652|ICD10:Q87.8|UMLS:CN202210 owl:Class HGNC:18667 biolink:NamedThing PMPCA tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002102 biolink:NamedThing Pleuritis Inflammation of the pleura. tmpak2llvmy_mondo_relaxed.owl Inflammation of tissues lining lungs and chest|Pleurisy MSH:D010998|UMLS:C0032231|SNOMEDCT_US:196075003 human_phenotype owl:Class NCBITaxon:49202 biolink:NamedThing Dermacentor marginatus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:118969 biolink:NamedThing Legionellales tmpak2llvmy_mondo_relaxed.owl Legionellaceae group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class HGNC:16980 biolink:NamedThing CFHR3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2731361 biolink:NamedThing Peploviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:3804 biolink:NamedThing FOXD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004383 biolink:NamedThing adult central nervous system germinoma A central nervous system germinoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl central nervous system germinoma of adults|central nervous system germinoma|germinoma of adult central nervous system|germinoma of adult CNS|germinoma of the adult central nervous system|adult CNS germinoma|adult central nervous system germinoma|germinoma of the adult CNS NCIT:C5792|UMLS:C1370504|DOID:7867 owl:Class MONDO:0008000 biolink:NamedThing migraine with or without aura, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 1|migraine with or without aura, susceptibility to, 1|migraine|Mgau|Mgr1 ICD9:346.90|SCTID:37796009|OMIM:157300|ICD9:346.80 owl:Class UBERON:0005669 biolink:NamedThing peritoneal cavity mesothelium A mesothelium that is part of a peritoneal cavity. tmpak2llvmy_mondo_relaxed.owl peritoneal mesothelium|mesothelium of peritoneal component|mesothelium of peritoneum|peritoneum mesothelium|peritoneum owl:Class MONDO:0001534 biolink:NamedThing ocular hyperemia tmpak2llvmy_mondo_relaxed.owl hyperemia eye|hyperemia of conjunctiva UMLS:C0155169|DOID:1248|SCTID:359610006 owl:Class GO:0002827 biolink:NamedThing positive regulation of T-helper 1 type immune response Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. tmpak2llvmy_mondo_relaxed.owl up-regulation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response|up regulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|activation of T-helper 1 type immune response owl:Class MONDO:0005975 biolink:NamedThing suppurative otitis media Inflammation of the middle ear with purulent discharge. tmpak2llvmy_mondo_relaxed.owl otitis media with effusion - purulent|purulent otitis media UMLS:C0029888|ICD10:H66.4|ICD9:382.4|ICD9:382|MESH:D010035|EFO:0007503|ICD10:H66|ICD10:H66.40|SCTID:39288006|DOID:11506 owl:Class HGNC:34399 biolink:NamedThing UQCC3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:197913 biolink:NamedThing Gammainfluenzavirus tmpak2llvmy_mondo_relaxed.owl Influenzavirus C GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032603 biolink:NamedThing polydactyly, postaxial, type A9 tmpak2llvmy_mondo_relaxed.owl POLYDACTYLY, POSTAXIAL, TYPE A9|PAPA9 OMIM:618219 owl:Class OBO:CHR_9606-chr2q31.1 biolink:NamedThing chr2q31.1 (Human) tmpak2llvmy_mondo_relaxed.owl 177100000 168900000 hg38 owl:Class MONDO:0010610 biolink:NamedThing holoprosencephaly-hypokinesia-congenital contractures syndrome Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly with fetal akinesia/hypokinesia sequence|Morse-Rawnsley-Sargent syndrome|holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome GARD:0003788|Orphanet:2570|SCTID:716169009|MESH:C564409|OMIM:306990|ICD10:Q04.2 owl:Class MONDO:0016710 biolink:NamedThing medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis. tmpak2llvmy_mondo_relaxed.owl medulloblastoma with extensive nodularity and advanced neuronal differentiation|cerebellar neuroblastoma|medulloblastoma with extensive nodularity|MBEN|nodular medulloblastoma UMLS:CN201957|Orphanet:251858|UMLS:C1334970|NCIT:C5407|ICD10:C71.6|ONCOTREE:MBEN|ICDO:9471/3 owl:Class MONDO:0013004 biolink:NamedThing hypotonia, seizures, and precocious puberty tmpak2llvmy_mondo_relaxed.owl hypotonia, seizures, and precocious puberty UMLS:C2748586|OMIM:612777|MESH:C567566 owl:Class HGNC:10610 biolink:NamedThing CCL11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017233 biolink:NamedThing familial Alzheimer-like prion disease tmpak2llvmy_mondo_relaxed.owl ICD10:A81.8|UMLS:C4303482|SCTID:721219005|Orphanet:280397|UMLS:CN202723 owl:Class CHEBI:33893 biolink:NamedThing reagent A substance used in a chemical reaction to detect, measure, examine, or produce other substances. tmpak2llvmy_mondo_relaxed.owl reagent|reactif|reactivo|reagents owl:Class MONDO:0015985 biolink:NamedThing bone dysplasia, Azouz type Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. tmpak2llvmy_mondo_relaxed.owl bone dysplasia Azouz type GARD:0000920|Orphanet:1844|UMLS:C4303993|SCTID:720566004|ICD10:Q78.4 https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type owl:Class MONDO:0007456 biolink:NamedThing diarrhea, glucose-stimulated secretory, with common variable immunodeficiency tmpak2llvmy_mondo_relaxed.owl diarrhea, glucose-stimulated secretory, with common variable immunodeficiency OMIM:125890|MESH:C565099|UMLS:C1852087 owl:Class MONDO:0014069 biolink:NamedThing syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome tmpak2llvmy_mondo_relaxed.owl WAHAB syndrome|camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome|Wahab syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome Orphanet:357332|OMIM:615170|UMLS:C3554611|ICD10:Q87.2 owl:Class MONDO:0019561 biolink:NamedThing lupus erythematosus panniculitis A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. tmpak2llvmy_mondo_relaxed.owl lupus erythematosus profundus|lupus profundus|lupus panniculitis MESH:D015435|Orphanet:90285|SCTID:15084002|NCIT:C82884|ICD10:L93.2|UMLS:C0030327 owl:Class MONDO:0054817 biolink:NamedThing leukodystrophy, hypomyelinating, 17 tmpak2llvmy_mondo_relaxed.owl HLD17|leukodystrophy, hypomyelinating, 17 OMIM:618006|UMLS:CN248514 owl:Class GO:0003015 biolink:NamedThing heart process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpak2llvmy_mondo_relaxed.owl cardiac process owl:Class MONDO:0014766 biolink:NamedThing leukodystrophy and acquired microcephaly with or without dystonia; tmpak2llvmy_mondo_relaxed.owl LDAMD|leukodystrophy and acquired microcephaly with or without dystonia UMLS:C4225213|OMIM:616763 owl:Class UBERON:0009632 biolink:NamedThing root of cervical nerve tmpak2llvmy_mondo_relaxed.owl nerve root part of cervical spinal cord|cervical neural root|cervical spinal root|root of cervical spinal nerve owl:Class MONDO:0015464 biolink:NamedThing craniofrontonasal dysplasia-Poland anomaly syndrome Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far. tmpak2llvmy_mondo_relaxed.owl Webster-Deming syndrome SCTID:720757001|Orphanet:1521|UMLS:CN199598|ICD10:Q87.8 owl:Class MONDO:0007951 biolink:NamedThing masticatory muscles, hypertrophy of tmpak2llvmy_mondo_relaxed.owl masseter muscle Hypertrophy|masticatory muscles, hypertrophy of SCTID:699649006|OMIM:154850|MESH:C563600 owl:Class MONDO:0015390 biolink:NamedThing proboscis lateralis Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. tmpak2llvmy_mondo_relaxed.owl congenital tubular nose UMLS:C4274985|SCTID:715828006|Orphanet:141099|ICD10:Q30.8 owl:Class MONDO:0007859 biolink:NamedThing palmoplantar keratoderma i, striate, focal, or diffuse tmpak2llvmy_mondo_relaxed.owl keratosis palmoplantaris striata 1|palmoplantar keratoderma i, striate, focal, or diffuse|SPPK1|striate palmoplantar keratoderma 1|palmoplantar keratoderma I, striate, focal, or diffuse|PPKS1|keratoderma, palmoplantar striate form 1|keratoderma, palmoplantar, striate form 1 MESH:C536162|OMIM:148700|GARD:0009172 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class MONDO:0008258 biolink:NamedThing platelet signal processing defect tmpak2llvmy_mondo_relaxed.owl platelet signal processing defect MESH:C566796|OMIM:173590|UMLS:C1868199 owl:Class MONDO:0014354 biolink:NamedThing intellectual disability, autosomal recessive 43 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 43|MRT43|mental retardation, autosomal recessive type 43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4|mental retardation, autosomal recessive 43|intellectual disability, autosomal recessive type 43|WASHC4 autosomal recessive non-syndromic intellectual disability OMIM:615817|UMLS:C4014386 owl:Class MONDO:0020795 biolink:NamedThing Silver-Russell syndrome 5 tmpak2llvmy_mondo_relaxed.owl SRS5|SILVER-RUSSELL SYNDROME 5|Silver-Russell syndrome 5 OMIM:618908 owl:Class MONDO:0008356 biolink:NamedThing radial heads, posterior dislocation of tmpak2llvmy_mondo_relaxed.owl radial heads, posterior dislocation of MESH:C566728|OMIM:179200|UMLS:C1867398 owl:Class UBERON:0003381 biolink:NamedThing cardiac muscle of right ventricle A portion of cardiac muscle tissue that is part of a right ventricle [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cardiac muscle tissue of right ventricle|right ventricular cardiac muscle tissue|right ventricle cardiac muscle owl:Class MONDO:0004859 biolink:NamedThing hydrops of gallbladder tmpak2llvmy_mondo_relaxed.owl UMLS:C0152445|ICD9:575.3|SCTID:47312008|DOID:9717|ICD10:K82.1 owl:Class MONDO:0015763 biolink:NamedThing mosaic trisomy 2 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. tmpak2llvmy_mondo_relaxed.owl Mosaic trisomy type 2|Mosaic trisomy chromosome 2|trisomy 2 mosaicism Orphanet:1723|GARD:0005331|ICD10:Q92.1|UMLS:CN073991|SCTID:764623009 owl:Class HGNC:2227 biolink:NamedThing COMP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012079 biolink:NamedThing asperger syndrome, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl ASPG2|ASPERGER syndrome, susceptibility to, 2 OMIM:608631|UMLS:C1837697 owl:Class MONDO:0013102 biolink:NamedThing basal cell carcinoma, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 3|BCC3 UMLS:C2751605|OMIM:613059 owl:Class HGNC:23658 biolink:NamedThing DELEC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000820 biolink:NamedThing regulation of glutamine family amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpak2llvmy_mondo_relaxed.owl regulation of glutamine family amino acid metabolism owl:Class MONDO:0015377 biolink:NamedThing third branchial cleft anomaly tmpak2llvmy_mondo_relaxed.owl third branchial cleft fistula|third branchial cleft cyst ICD10:Q18.0|SCTID:73391000119102|Orphanet:141030 owl:Class MONDO:0008540 biolink:NamedThing extensor tendons of finger anomalies tmpak2llvmy_mondo_relaxed.owl anomalous insertion of extensor tendons of fingers|Hapnes Boman Skeie syndrome|Hapnes-Boman-Skeie syndrome|tendons, extensor, of fingers, anomalous insertion OF MESH:C566068|Orphanet:3294|OMIM:187390|GARD:0002597|UMLS:C2931376 owl:Class HGNC:21043 biolink:NamedThing PITPNM3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6338 biolink:NamedThing KIR3DL1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5988 biolink:NamedThing Litostomatea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009645 biolink:NamedThing chronic mucocutaneous candidiasis due to monocyte chemotactic disorder tmpak2llvmy_mondo_relaxed.owl monocyte chemotactic disorder OMIM:252250|UMLS:C1854982|MESH:C565371 owl:Class CL:0000039 biolink:NamedThing germ line cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. tmpak2llvmy_mondo_relaxed.owl Originally this term had some plant germ line cell children. cell owl:Class UBERON:0019258 biolink:NamedThing white matter of hindbrain A white matter that is part of the hindbrain. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2063 biolink:NamedThing CLIC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023232 biolink:NamedThing giant cell myocarditis An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. tmpak2llvmy_mondo_relaxed.owl giant cell myocarditis|idiopathic giant-cell myocarditis|GCM GARD:0006502|NCIT:C97055|UMLS:C0264856|SCTID:60812006 https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis owl:Class NCBITaxon:39107 biolink:NamedThing Murinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:109679 ncbi_taxonomy owl:Class NCBITaxon:10066 biolink:NamedThing Muridae tmpak2llvmy_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005481 biolink:NamedThing contact dermatitis due to nickel A form of allergic contact dermatitis that results from exposure to nickel tmpak2llvmy_mondo_relaxed.owl EFO:0005320|UMLS:C0684345|SCTID:93419003 owl:Class MONDO:0017179 biolink:NamedThing limbic encephalitis with caspr2 antibodies Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. tmpak2llvmy_mondo_relaxed.owl ICD10:G13.1|Orphanet:276402|SCTID:763793004 owl:Class HGNC:24668 biolink:NamedThing CFHR5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007223 biolink:NamedThing brachydactyly type E1 Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. tmpak2llvmy_mondo_relaxed.owl HOXD13 brachydactyly type E|brachydactyly, type E1|BDE1|brachydactyly, type E|brachydactyly type E caused by mutation in HOXD13 DOID:0110972|MESH:C566194|OMIM:113300 owl:Class MONDO:0019677 biolink:NamedThing brachydactyly type E Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. tmpak2llvmy_mondo_relaxed.owl type E brachydactyly Orphanet:93387|ICD10:Q73.8|GARD:0000987 owl:Class MONDO:0001782 biolink:NamedThing mature cataract A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity. tmpak2llvmy_mondo_relaxed.owl total or mature cataract|total, mature senile cataract DOID:13717|SCTID:849000|ICD9:366.17 May be ceded to HPO. Note current classification may be incorrect owl:Class MONDO:0044204 biolink:NamedThing Shwachman-Diamond syndrome 1 tmpak2llvmy_mondo_relaxed.owl Shwachman-Diamond syndrome 1|pancreatic insufficiency and bone marrow dysfunction|Shwachman-Bodian syndrome|SDS1|lipomatosis of pancreas, congenital|Shwachman-Diamond syndrome OMIM:260400 owl:Class UBERON:0007842 biolink:NamedThing membrane bone Bone element that arises as a result of intramembranous ossification. tmpak2llvmy_mondo_relaxed.owl membrane bones owl:Class MONDO:0010821 biolink:NamedThing familial developmental dysphasia Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. tmpak2llvmy_mondo_relaxed.owl dysphasia, familial developmental|developmental dysphasia familial|FOXP2-associated dysphasia|developmental language disorder|specific language impairment|Billard-Toutain-Maheut syndrome ICD10:F80.1|OMIM:600117|GARD:0001823|Orphanet:1799|MESH:C563997|SCTID:721220004|UMLS:C1838630 https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial owl:Class MONDO:0015645 biolink:NamedThing eating seizures tmpak2llvmy_mondo_relaxed.owl eating epilepsy|eating reflex epilepsy SCTID:230450001|ICD10:G40.8|Orphanet:166418|UMLS:C0393725 owl:Class MONDO:0003129 biolink:NamedThing epithelial predominant pulmonary blastoma A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. tmpak2llvmy_mondo_relaxed.owl epithelial predominant pulmonary blastoma DOID:4768|NCIT:C36053|UMLS:C1333420 owl:Class MONDO:0017698 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form tmpak2llvmy_mondo_relaxed.owl GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSDIV, congenital neuromuscular form|GSD type 4, congenital neuromuscular form Orphanet:308670|ICD10:E74.0|UMLS:C1856304 owl:Class MONDO:0007826 biolink:NamedThing incisors, shovel-shaped tmpak2llvmy_mondo_relaxed.owl incisors, shovel-shaped|Sinodonty OMIM:147400 owl:Class MONDO:0008040 biolink:NamedThing transient myeloproliferative syndrome A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. tmpak2llvmy_mondo_relaxed.owl transient myeloproliferative disease|leukemia, transient|TMD|transient leukemia|transient myeloproliferative syndrome|transient myeloproliferative disorder|transient abnormal myelopoiesis|myeloproliferative syndrome, transient|MST|Transient abnormal myelopoiesis associated with Down syndrome|Mst|transient leurkemia of Down syndrome|transient myeloproliferative syndrome (disease)|TAM transient myeloproliferative syndrome (disease) ICDO:9898/1|DOID:0060888|ONCOTREE:TAM|ICD10:D47.7|OMIM:159595|SCTID:721307000|HP:0005534|Orphanet:420611|MESH:C563551|UMLS:C1834582|GARD:0012765|NCIT:C82339 owl:Class UBERON:0004781 biolink:NamedThing gall bladder lamina propria A lamina propria that is part of a gallbladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl gallbladder lamina propria mucosa|lamina propria of gall bladder|lamina propria of gallbladder|lamina propria mucosa of gallbladder|lamina propria mucosa of gall bladder|gallbladder lamina propria|biliary lamina propria|gall bladder lamina propria mucosa owl:Class MONDO:0013598 biolink:NamedThing myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. tmpak2llvmy_mondo_relaxed.owl muscle hypertrophy|MSLHP ICD9:756.89|DOID:0111072|Orphanet:275534|HGNC:4223|OMIM:614160|GARD:0010238|SCTID:699185005|MESH:C536106 https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy owl:Class UBERON:0004901 biolink:NamedThing right lung lobar bronchus mesenchyme The right lung lobar bronchus mesenchyme is a type of tissue made up of loosely-packed mesenchymal cells in the right lung lobar bronchus tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017886 biolink:NamedThing MIT family translocation renal cell carcinoma MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. tmpak2llvmy_mondo_relaxed.owl translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation UMLS:C4518356|SCTID:764694005|ICD10:C64|Orphanet:319308 owl:Class MONDO:0000214 biolink:NamedThing hypermanganesemia with dystonia tmpak2llvmy_mondo_relaxed.owl DOID:0080535|SCTID:768553002|OMIMPS:613280 owl:Class UBERON:0005026 biolink:NamedThing mucosa of middle ear A mucosa that is part of a middle ear [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl tunica mucosa cavitatis tympanicae|mucosa of organ of middle ear|organ mucosa of middle ear|middle ear mucosa of organ|mucosa of tympanic cavity|middle ear mucosa|mucous membrane of middle ear|middle ear organ mucosa|middle ear mucous membrane owl:Class MONDO:0044726 biolink:NamedThing psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome tmpak2llvmy_mondo_relaxed.owl BILAPES|Cerebrorenal syndrome, Perez type|Birk-Landau-Perez syndrome OMIM:617595|Orphanet:505242|UMLS:CN353477 owl:Class MONDO:0032807 biolink:NamedThing neurodevelopmental disorder with visual defects and brain anomalies tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES|NEDVIBA OMIM:618547 owl:Class MONDO:0044347 biolink:NamedThing erythrocyte disease A disease or disorder that involves the erythrocyte. tmpak2llvmy_mondo_relaxed.owl disorder of erythrocyte|disease of erythrocyte|disease or disorder of erythrocyte|erythrocyte disease|red blood cell disease|erythrocyte disease or disorder|red blood cell disorder UMLS:C0221016|SCTID:38292009|ICD9:289.9 owl:Class GO:0046485 biolink:NamedThing ether lipid metabolic process The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpak2llvmy_mondo_relaxed.owl ether lipid metabolism|plasmalogen metabolic process owl:Class UBERON:0007723 biolink:NamedThing interphalangeal joint of manual digit 1 An interphalangeal joint of manus that is part of a manual digit 1. tmpak2llvmy_mondo_relaxed.owl interphalangeal joint of manual digit I|interphalangeal joint of manual digit 1|interphalangeal joint of first digit of hand|interphalangeal joint of thumb|interphalangeal joint of hand digit 1|interphalangeal joint of pollex owl:Class MONDO:0003271 biolink:NamedThing iodine hypothyroidism tmpak2llvmy_mondo_relaxed.owl DOID:5083|SCTID:190279008|UMLS:C0154159|ICD9:244.2 owl:Class MONDO:0030038 biolink:NamedThing glaucoma, primary closed-angle tmpak2llvmy_mondo_relaxed.owl GLCC|glaucoma, primary closed-angle|GLAUCOMA, PRIMARY CLOSED-ANGLE OMIM:618880 owl:Class MONDO:0006817 biolink:NamedThing juxtacortical osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. tmpak2llvmy_mondo_relaxed.owl parosteal osteogenic sarcoma|parosteal osteosarcoma|juxtacortical osteosarcoma|PAOS|juxtacortical osteogenic sarcoma NCIT:C8969|UMLS:C0206642|MESH:D018217|EFO:1001000|DOID:3373|ONCOTREE:PAOS|ICDO:9192/3 owl:Class MONDO:0001456 biolink:NamedThing cobblestone retinal degeneration tmpak2llvmy_mondo_relaxed.owl paving stone retinal degeneration|paving stone degeneration of retina ICD10:H35.43|ICD9:362.61|SCTID:69134001|UMLS:C0154854|DOID:12166 owl:Class UBERON:0003456 biolink:NamedThing respiratory system lymphatic vessel A lymphatic vessel that is part of a respiratory system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl apparatus respiratorius lymphatic vessel|lymph vessel of apparatus respiratorius|lymph vessel of respiratory system|respiratory system lymph vessel|lymphatic vessel of respiratory system|apparatus respiratorius lymph vessel|lymphatic vessel of apparatus respiratorius owl:Class MONDO:0018746 biolink:NamedThing mucous membrane pemphigoid Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. tmpak2llvmy_mondo_relaxed.owl benign mucous membrane pemphigoid|mucosal pemphigoid|ocular pemphigoid|cicatricial pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous membrance pemphigoid|benign mucous Membrane pemphigoid|Mucosynechial pemphigoid|benign mucous membrane pemphigoid with ocular involvement|benign mucosal pemphigoid|ocular pemphigus Orphanet:46486|DOID:11656|GARD:0005913|EFO:1000680|MedDRA:10057052|NCIT:C34907|ICD9:694.61|SCTID:76092003|ICD10:L12.1|ICD9:694.6 owl:Class MONDO:0002568 biolink:NamedThing tracheal stenosis Narrowing of the lumen of the trachea. tmpak2llvmy_mondo_relaxed.owl stenosis of trachea SCTID:11296007|UMLS:C0040583|DOID:3227|ICD9:519.19|MESH:D014135 owl:Class MONDO:0009907 biolink:NamedThing Prepapillary vascular loops tmpak2llvmy_mondo_relaxed.owl Prepapillary vascular loops|preretinal vascular loops MESH:C563287|SCTID:424728002|OMIM:264060 owl:Class HP:0011029 biolink:NamedThing Internal hemorrhage The presence of hemorrhage within the body. tmpak2llvmy_mondo_relaxed.owl Internal bleeding|Internal haemorrhage UMLS:C1390214 peter 2011-03-03T10:26:26Z human_phenotype owl:Class MONDO:0020463 biolink:NamedThing isolated congenital ectropion A congenital ectropion that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic congenital ectropion ICD10:Q10.1|Orphanet:99171 owl:Class CL:0000501 biolink:NamedThing granulosa cell A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors. tmpak2llvmy_mondo_relaxed.owl granulosa cell of ovary CALOHA:TS-0729|BTO:0000542|FMA:18718 cell owl:Class MONDO:0009241 biolink:NamedThing fountain syndrome Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. tmpak2llvmy_mondo_relaxed.owl intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-coarse face with full lips syndrome|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness, skeletal dysplasia, lip granuloma|deafness-skeletal dysplasia-lip granuloma syndrome|fountain syndrome ICD10:Q87.8|MESH:C537270|SCTID:720957007|Orphanet:3219|OMIM:229120|GARD:0000064|UMLS:C0795944 https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome owl:Class MONDO:0001671 biolink:NamedThing mucocele of appendix Accumulation of mucus within the appendix. tmpak2llvmy_mondo_relaxed.owl mucocele of the appendix|appendiceal mucocele|Appendicele mucocele SCTID:53773002|ICD9:543.9|DOID:13248|NCIT:C3241|UMLS:C0026684 owl:Class MONDO:0003097 biolink:NamedThing childhood mediastinal neurogenic neoplasm tmpak2llvmy_mondo_relaxed.owl childhood neurogenic neoplasm of mediastinum|childhood neurogenic neoplasm of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|pediatric mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum|childhood mediastinal neurogenic tumor|childhood neurogenic tumor of the mediastinum|pediatric neurogenic tumor of the mediastinum|childhood mediastinal neurogenic neoplasm|pediatric neurogenic neoplasm of mediastinum|pediatric mediastinal neurogenic neoplasm|childhood neurogenic tumor of mediastinum NCIT:C5429|DOID:4690|UMLS:C1332981 owl:Class MONDO:0019483 biolink:NamedThing methotrexate-associated lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. tmpak2llvmy_mondo_relaxed.owl MTX-LPD|methotrexate-associated lymphoproliferation|methotrexate-associated lymphoproliferative disorder|MTX-associated lymphoproliferative disorders DOID:5821|UMLS:CN206264|NCIT:C7184|UMLS:C1334749|Orphanet:86904 owl:Class MONDO:0016954 biolink:NamedThing partial duplication of the long arm of chromosome 3 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl chromosome 3, trisomy 3q|chromosome 3q duplication|partial trisomy of chromosome 3q|partial duplication of the long arm of chromosome type 3|partial duplication of chromosome 3q|trisomy 3q|Duplication 3q Orphanet:262851|GARD:0005345|MESH:C536813|UMLS:C0795809 owl:Class MONDO:0008643 biolink:NamedThing veins, pattern of, on anterior thorax tmpak2llvmy_mondo_relaxed.owl veins, pattern of, on anterior thorax OMIM:192400 owl:Class MONDO:0019452 biolink:NamedThing myeloproliferative neoplasm, unclassifiable This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms. tmpak2llvmy_mondo_relaxed.owl MPN, U|unclassifiable chronic myeloproliferative disorder|CMPD, U|MPN-U|chronic myeloproliferative disorder, unclassifiable|myeloproliferative neoplasm, unclassifiable|undifferentiated myeloproliferative disease|chronic myeloproliferative disease, unclassifiable|CMPD-U|unclassifiable chronic myeloproliferative disease ICDO:9975/3|UMLS:C1333046|ICD10:D47.1|NCIT:C27350|Orphanet:86830 owl:Class MONDO:0019088 biolink:NamedThing post-transplant lymphoproliferative disease Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl post-transplant lymphoproliferative disorder|PTLD ICDO:9971/1|Orphanet:70568|NCIT:C4727|MedDRA:10051358|UMLS:C0432487|ICD10:D47.9|GARD:0009553|SCTID:254290004 https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease owl:Class MONDO:0020083 biolink:NamedThing immunodeficiency-associated lymphoproliferative disease tmpak2llvmy_mondo_relaxed.owl Orphanet:98290|UMLS:CN206985|ICD10:D47.9 owl:Class MONDO:0011662 biolink:NamedThing pathological gambling A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. tmpak2llvmy_mondo_relaxed.owl compulsive gambling|gambling, pathologic|pathological gambling EFO:1001926|SCTID:18085000|MESH:D005715|ICD10:F63.0|ICD9:312.31|OMIM:606349|DOID:12399|NCIT:C94335 owl:Class MONDO:0000979 biolink:NamedThing pinta disease An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. tmpak2llvmy_mondo_relaxed.owl Lota|Mal del pinto|Empeines|infection by Treponema carateum|Tina|endemic treponematosis caused by Treponema carateum|pinta|Azul|Carate ICD9:103.1|DOID:1022|ICD10:A67.3|ICD10:A67|UMLS:C0031946|ICD10:A67.1|ICD9:103|ICD9:103.0|NCIT:C85011|ICD10:A67.9|GARD:0007397|ICD9:103.2|MESH:D010874|ICD10:A67.2|SCTID:22064009|ICD10:A67.0|ICD9:103.9|EFO:1001396|ICD9:103.3 NCBI Taxonomy appears to lack an entry for T carateum owl:Class OBO:CHR_9606-chr20q13.33 biolink:NamedThing chr20q13.33 (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 59700000 hg38 owl:Class MONDO:0009077 biolink:NamedThing deafness, congenital, and familial myoclonic epilepsy tmpak2llvmy_mondo_relaxed.owl deafness, congenital, and familial myoclonic epilepsy OMIM:220300|UMLS:C1857348|MESH:C565649 owl:Class MONDO:0001053 biolink:NamedThing acute infection of pinna An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. tmpak2llvmy_mondo_relaxed.owl ICD9:380.11|DOID:10520|UMLS:C0155392|SCTID:56663002 owl:Class MONDO:0005723 biolink:NamedThing Cryptococcal meningitis Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) tmpak2llvmy_mondo_relaxed.owl Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis MESH:D016919|ICD9:321.0|EFO:0007228|SCTID:14232007|DOID:0080159 owl:Class MONDO:0006156 biolink:NamedThing colon sessile serrated adenoma/polyp A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability. tmpak2llvmy_mondo_relaxed.owl colon sessile serrated polyp|colon SSA/P|colon SSA|colon sessile serrated adenoma/polyp|colon sessile serrated adenoma|colon SSP UMLS:C3272791|NCIT:C96464|EFO:1000189 owl:Class MONDO:0006164 biolink:NamedThing colorectal sessile serrated adenoma/polyp A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. tmpak2llvmy_mondo_relaxed.owl colorectal sessile serrated polyp|colorectal SSP|colorectal SSA|colorectal sessile serrated adenoma/polyp|colorectal mixed hyperplastic adenomatous polyp|colorectal SSA/P|colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated adenoma NCIT:C83176|UMLS:C2826783|EFO:1000197 owl:Class MONDO:0020782 biolink:NamedThing chronic gingivitis Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. tmpak2llvmy_mondo_relaxed.owl Chronic Gingivitis|Chronic gingivitis|chronic gingivitis NCIT:C34474|SCTID:72621003|UMLS:C0008684|ICD9:523.10|ICD9:523.1 owl:Class MONDO:0006022 biolink:NamedThing acidosis disorder An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. tmpak2llvmy_mondo_relaxed.owl acidosis ICD9:276.2|EFO:1000014|HP:0001941|SCTID:51387008 owl:Class MONDO:0032889 biolink:NamedThing Poirier-Bienvenu neurodevelopmental syndrome tmpak2llvmy_mondo_relaxed.owl POBINDS|POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME OMIM:618732 owl:Class HGNC:3585 biolink:NamedThing FANCD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013411 biolink:NamedThing cataract 16 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene. tmpak2llvmy_mondo_relaxed.owl CTPP2|cataract 16, multiple types|early-onset non-syndromic cataract caused by mutation in CRYAB|cataract, posterior polar, 2|CTRCT16|cataract, congenital lamellar|posterior polar cataract 2|CRYAB early-onset non-syndromic cataract MESH:C565134|DOID:0110250|ICD10:Q12.0|OMIM:613763 owl:Class MONDO:0012640 biolink:NamedThing Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpak2llvmy_mondo_relaxed.owl FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|autosomal recessive Charcot-Marie-Tooth disease type 4J|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|Charcot-Marie-Tooth disease, type 4J|CMT4J GARD:0012443|ICD10:G60.0|MESH:C566984|Orphanet:139515|SCTID:720638000|UMLS:C1970011|DOID:0110184|NCIT:C134954|OMIM:611228 https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j owl:Class MONDO:0012773 biolink:NamedThing Hunter-Macdonald syndrome tmpak2llvmy_mondo_relaxed.owl Hunter-Macdonald syndrome UMLS:C2677745|MESH:C567445|OMIM:611962 owl:Class UBERON:0007354 biolink:NamedThing cartilage of pharyngotympanic tube A triangular plate of elastic fibrocartilage that forms the cartilage component of the pharyngotympanic tube. tmpak2llvmy_mondo_relaxed.owl cartilage of auditory tube|cartilago tubae auditoriae|cartilage of eustachian tube|pharyngotympanic tube cartilage|cartilago tubae auditivae; cartilago tubae auditoriae|cartilago tubae auditivae owl:Class MONDO:0003307 biolink:NamedThing multiple mucosal neuroma tmpak2llvmy_mondo_relaxed.owl multiple mucosal neuromas UMLS:C1334828|NCIT:C6559|DOID:5155 owl:Class MONDO:0010037 biolink:NamedThing sodium-potassium-ATPase activity of red cell tmpak2llvmy_mondo_relaxed.owl sodium-potassium-ATPase activity of red cell|sodium pump sites, number of OMIM:270425 owl:Class MONDO:0010120 biolink:NamedThing thrombocytopenia 3 tmpak2llvmy_mondo_relaxed.owl thrombocytopenia 3|thrombocytopenia, autosomal recessive, 3|THC3 OMIM:273900|UMLS:C2678311|MESH:C567487 owl:Class ENVO:01001856 biolink:NamedThing liquid accumulation process A material accumulation process during which the volume of liquid entity increases. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014981 biolink:NamedThing immunodeficiency 49 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. tmpak2llvmy_mondo_relaxed.owl immunodeficiency type 49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49; IMD49|primary immunodeficiency disease caused by mutation in BCL11B|BCL11B primary immunodeficiency disease|IMD49|immunodeficiency 49 UMLS:C4310656|OMIM:617237 owl:Class MONDO:0054665 biolink:NamedThing pituitary adenoma 3, multiple types tmpak2llvmy_mondo_relaxed.owl PITA3|pituitary adenoma 3, multiple types UMLS:C4540135|OMIM:617686 owl:Class MONDO:0008304 biolink:NamedThing premature chromatid separation trait tmpak2llvmy_mondo_relaxed.owl total premature chromatid separation trait|premature chromatid separation trait|PCS UMLS:C1864389|OMIM:176430|EFO:0009077 owl:Class UBERON:0034946 biolink:NamedThing gas excreted from digestive tract Any excreted gas that is produced by the digestive tract. tmpak2llvmy_mondo_relaxed.owl intestinal gas|flatulence|flatus owl:Class MONDO:0007304 biolink:NamedThing cervical vertebral Bridge tmpak2llvmy_mondo_relaxed.owl cervical vertebral Bridge OMIM:118000 owl:Class MONDO:0017807 biolink:NamedThing growing teratoma syndrome A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. tmpak2llvmy_mondo_relaxed.owl GTS UMLS:C3891714|NCIT:C118370|Orphanet:314613|UMLS:CN203773 owl:Class MONDO:0054801 biolink:NamedThing erythrocytosis, familial, 6 tmpak2llvmy_mondo_relaxed.owl polycythemia, Beta-globin type|ECYT6|erythrocytosis, FAMILIAL, 6|erythrocytosis, Beta-globin type DOID:0111632|UMLS:CN244941|OMIM:617980 owl:Class UBERON:0003320 biolink:NamedThing mesenchyme of hip Mesenchyme that is part of a developing hip [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesenchyme of regio coxae|regio coxae mesenchyme|hip mesenchyme|mesenchyme of hip region|hip region mesenchyme owl:Class MONDO:0004270 biolink:NamedThing breast ductal adenoma A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. tmpak2llvmy_mondo_relaxed.owl breast ductal adenoma|ductal adenoma NCIT:C40384|UMLS:C1511307|DOID:7538 owl:Class MONDO:0020228 biolink:NamedThing cataract associated with a metabolic disease tmpak2llvmy_mondo_relaxed.owl metabolic disease with cataract 2022-03-01 Orphanet:98644|UMLS:CN207056 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic cataract' MONDO_0020225 owl:Class MONDO:0020400 biolink:NamedThing congenital supravalvular mitral ring Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:99059|ICD10:Q23.2 owl:Class CL:0000147 biolink:NamedThing pigment cell A pigment cell is a cell that contains pigment granules. tmpak2llvmy_mondo_relaxed.owl chromatocyte|chromatophore VHOG:0001678 cell owl:Class MONDO:0006097 biolink:NamedThing atypical lipomatous tumor An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. tmpak2llvmy_mondo_relaxed.owl Atypical lipoma|liposarcoma, well differentiated (morphologic abnormality)|lipoma-like liposarcoma|superficial well differentiated liposarcoma|well differentiated liposarcoma|well differentiated liposarcoma of superficial soft tissue|ALT ICDO:8850/1|EFO:1000099|NCIT:C6505|DOID:5690 owl:Class MONDO:0009302 biolink:NamedThing XY type gonadal dysgenesis-associated anomalies syndrome Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. tmpak2llvmy_mondo_relaxed.owl gonadal dysgenesis, 10Y type, with associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis XY type associated anomalies MESH:C565536|OMIM:233430|Orphanet:1770|GARD:0002541|ICD10:Q99.1|UMLS:C1856272 https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies owl:Class CHEBI:30217 biolink:NamedThing helium atom tmpak2llvmy_mondo_relaxed.owl Helium|helium|2He|helio|He owl:Class HGNC:4507 biolink:NamedThing GABBR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001404 biolink:NamedThing ecthyma An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl DOID:11907|MESH:D004473|UMLS:C0013568|EFO:1000689|ICD9:686.8|SCTID:85791004 owl:Class MONDO:0019597 biolink:NamedThing 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. tmpak2llvmy_mondo_relaxed.owl Orphanet:90796|ICD10:E29.1|UMLS:CN206443 owl:Class MONDO:0012524 biolink:NamedThing corticosterone methyloxidase type 2 deficiency tmpak2llvmy_mondo_relaxed.owl aldosterone deficiency due to deficiency of steroid 18-oxidase|18-oxidase deficiency|aldosterone deficiency 2|corticosterone methyloxidase type II deficiency|steroid 18-oxidase deficiency|Cmo 2 deficiency|hyperreninemic hypoaldosteronism, familial, 1 OMIM:610600|UMLS:C3463917 owl:Class MONDO:0012942 biolink:NamedThing lung cancer susceptibility 3 tmpak2llvmy_mondo_relaxed.owl lung cancer susceptibility 3|adenocarcinoma of lung, susceptibility to|LNCR3 OMIM:612571|UMLS:C2675497 owl:Class MONDO:0030281 biolink:NamedThing arthrogryposis multiplex congenita 6 tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex congenita 6|AMC6 OMIM:619334 owl:Class MONDO:0022682 biolink:NamedThing cennamo gangemi syndrome tmpak2llvmy_mondo_relaxed.owl hydrocephalus cataract microphthalmos GARD:0001179 https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome owl:Class MONDO:0012910 biolink:NamedThing age-related hearing impairment 1 tmpak2llvmy_mondo_relaxed.owl age-related hearing impairment 1|presbycusis 1|ARHI1 OMIM:612448|MESH:C567305|UMLS:C2676230 owl:Class MONDO:0021377 biolink:NamedThing hypertrophic lichen planus A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring. tmpak2llvmy_mondo_relaxed.owl Hypertrophic lichen planus|hypertrophic lichen planus|Hypertrophic Lichen Planus|Lichen planus hypertrophicus|lichen planus hypertrophicus NCIT:C34779|SCTID:68266006|UMLS:C0023649 owl:Class MONDO:0020848 biolink:NamedThing osteopetrosis, autosomal dominant 3 tmpak2llvmy_mondo_relaxed.owl OPTA3|OSTEOPETROSIS, autosomal dominant 3 OMIM:618107 owl:Class MONDO:0001104 biolink:NamedThing toxic diffuse goiter tmpak2llvmy_mondo_relaxed.owl ICD9:242.00|SCTID:267374005|DOID:10719 owl:Class MONDO:0005862 biolink:NamedThing multiple chemical sensitivity An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) tmpak2llvmy_mondo_relaxed.owl idiopathic environmental illness|chemical AIDS|20th century disease|total allergy syndrome|environmental illness EFO:0007382|DOID:4661|MESH:D018777|UMLS:C0242992|SCTID:702772003 Editor note: consider obsoletion owl:Class PATO:0001405 biolink:NamedThing anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001404 biolink:NamedThing nucleate quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005765 biolink:NamedThing foot and mouth disease A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. tmpak2llvmy_mondo_relaxed.owl MESH:D005536|EFO:0007277|UMLS:C0016514 owl:Class ECTO:9001701 biolink:NamedThing exposure to reagent An exposure to reagent. tmpak2llvmy_mondo_relaxed.owl exposure to reagent owl:Class HGNC:12597 biolink:NamedThing USH1C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011047 biolink:NamedThing deafness-epiphyseal dysplasia-short stature syndrome This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). tmpak2llvmy_mondo_relaxed.owl growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|chitty-Hall-Baraitser syndrome|deafness, epiphyseal dysplasia, short stature|deafness, femoral epiphyseal dysplasia, short stature and developmental delay Orphanet:3218|GARD:0001688|OMIM:601351|SCTID:716238003|UMLS:C1832438|MESH:C535928 owl:Class MONDO:0015701 biolink:NamedThing T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. tmpak2llvmy_mondo_relaxed.owl IL-7R|T-B+ SCID due to IL-7Ralpha deficiency|IL-7Ralpha deficiency|interleukin-7 receptor alpha deficiency ICD10:D81.2|DOID:0060015|Orphanet:169154 MONDO:0000575 owl:Class MONDO:0019777 biolink:NamedThing Carpenter-Waziri syndrome Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl Orphanet:93973|UMLS:CN206718 owl:Class NCBITaxon:34503 biolink:NamedThing Paragonimus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009347 biolink:NamedThing familial lipochrome histiocytosis tmpak2llvmy_mondo_relaxed.owl histiocytosis, familial lipochrome MESH:C562738|UMLS:C0334125|SCTID:234577004|OMIM:235900 owl:Class MONDO:0030356 biolink:NamedThing short-rib thoracic dysplasia 21 without polydactyly tmpak2llvmy_mondo_relaxed.owl SRTD21|short-rib thoracic dysplasia 21 without polydactyly OMIM:619479 owl:Class UBERON:0002429 biolink:NamedThing cervical lymph node Cervical lymph nodes are lymph nodes found in the neck. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl lymph node of neck owl:Class UBERON:0018234 biolink:NamedThing stroma of pancreas A stroma that is part of a pancreas. tmpak2llvmy_mondo_relaxed.owl pancreatic stroma owl:Class MONDO:0010620 biolink:NamedThing hypouricemia, familial renal, due to tubular hypersecretion tmpak2llvmy_mondo_relaxed.owl hypouricemia, familial renal, due to tubular hypersecretion OMIM:307830|MESH:C564405|UMLS:C1843972 owl:Class MONDO:0010987 biolink:NamedThing autosomal recessive nonsyndromic deafness 8 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. tmpak2llvmy_mondo_relaxed.owl deafness, childhood-onset neurosensory, autosomal recessive 8|deafness, autosomal recessive type 8|deafness, autosomal recessive 10|autosomal recessive deafness 8|autosomal recessive nonsyndromic deafness type 8|neurosensory nonsyndromic recessive deafness 8|autosomal recessive nonsyndromic deafness 8|NRSD8|childhood-onset neurosensory autosomal recessive deafness 8|autosomal recessive deafness 10|DFNB10|DFNB8|deafness, autosomal recessive 8 DOID:0110527|UMLS:C1832827|OMIM:601072|ICD10:H90.3 owl:Class MONDO:0001057 biolink:NamedThing malignant gastric granular cell tumor A metastasizing granular cell tumor that arises from the stomach. tmpak2llvmy_mondo_relaxed.owl malignant granular cell stomach tumor|malignant granular cell stomach neoplasm|malignant granular cell tumor of stomach|malignant gastric granular cell neoplasm|malignant granular cell neoplasm of stomach|malignant granular cell neoplasm of the stomach|malignant gastric granular cell tumor|malignant granular cell tumor of the stomach UMLS:C1334585|DOID:10536|NCIT:C5484 owl:Class MONDO:0006151 biolink:NamedThing colon dysplasia A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion. tmpak2llvmy_mondo_relaxed.owl dysplasia of colon|dysplasia of the colon|colonic dysplasia NCIT:C4847|EFO:1000183|UMLS:C1302363|SCTID:308870004 Editor notes: not in NCIT neoplas subset owl:Class CHEBI:35842 biolink:NamedThing antirheumatic drug A drug used to treat rheumatoid arthritis. tmpak2llvmy_mondo_relaxed.owl anti-rheumatic drugs|antirheumatic agent|antirheumatic drugs owl:Class MONDO:0020449 biolink:NamedThing persistent eustachian valve tmpak2llvmy_mondo_relaxed.owl Orphanet:99120|ICD10:Q26.8 owl:Class MONDO:0015032 biolink:NamedThing intraneural perineurioma A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells. tmpak2llvmy_mondo_relaxed.owl intraneural perineurioma|intraneural perineurioma (WHO grade I) NCIT:C6911|UMLS:C1370658|DOID:4696|Orphanet:100003|SCTID:768934004|GARD:0010921 https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma owl:Class MONDO:0016149 biolink:NamedThing qualitative or quantitative defects of merosin tmpak2llvmy_mondo_relaxed.owl Orphanet:207094 owl:Class MONDO:0011592 biolink:NamedThing exudative vitreoretinopathy 3 tmpak2llvmy_mondo_relaxed.owl EVR3|exudative vitreoretinopathy 3 DOID:0111409|MESH:C565297|OMIM:605750|UMLS:C1854002 owl:Class MONDO:0019924 biolink:NamedThing paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. tmpak2llvmy_mondo_relaxed.owl paternal UPD20|UPD(20)pat|paternal UPD(20)|paternal uniparental disomy of chromosome type 20 UMLS:C4275028|Orphanet:96194|SCTID:715736008|ICD10:Q99.8 owl:Class MONDO:0008956 biolink:NamedThing congenital neuronal ceroid lipofuscinosis Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. tmpak2llvmy_mondo_relaxed.owl ceroid storage disease|lipofuscin storage disease|congenital NCL 2021-01-01 OMIM:214200|ICD10:E75.4|Orphanet:168486|SCTID:720830009|GARD:0009447 Reason: duplicate. This will be merged with MONDO:0009744 neuronal ceroid lipofuscinosis 1 owl:Class MONDO:0033954 biolink:NamedThing monoclonal mast cell activation syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:529468 owl:Class UBERON:3000982 biolink:NamedThing tail external integument structure Dermal, epidermal, glandular and pigment structures of the tail integument. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003784 biolink:NamedThing nasal cavity carcinoma in situ A in situ carcinoma that involves the nasal cavity. tmpak2llvmy_mondo_relaxed.owl stage 0 nasal cavity carcinoma aJCC v6|stage 0 nasal cavity carcinoma aJCC v8|nasal cavity in situ carcinoma|stage 0 carcinoma of the nasal cavity|stage 0 nasal cavity cancer aJCC v6, v7, and v8|stage 0 nasal cavity carcinoma aJCC v7|stage 0 carcinoma of nasal cavity|nasal cavity carcinoma in situ|carcinoma in situ of nasal cavity|stage 0 nasal cavity cancer|carcinoma in situ of nasal cavities|stage 0 nasal cavity carcinoma|carcinoma in situ of the nasal cavity UMLS:C0347095|NCIT:C4589|DOID:6148|ICD9:231.8|SCTID:92663007|ICD10:D02.3 owl:Class MONDO:0000440 biolink:NamedThing metabolic acidosis tmpak2llvmy_mondo_relaxed.owl SCTID:59455009|DOID:0050758 owl:Class MONDO:0012228 biolink:NamedThing myopia 8 tmpak2llvmy_mondo_relaxed.owl myopia 8|MYP8 UMLS:C1836505|OMIM:609257|MESH:C563760 owl:Class GO:0015739 biolink:NamedThing sialic acid transport The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:41191 biolink:NamedThing Glossata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017301 biolink:NamedThing pericardial and diaphragmatic defect Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. tmpak2llvmy_mondo_relaxed.owl Orphanet:2847 owl:Class MONDO:0011641 biolink:NamedThing baculum, congenital absence of tmpak2llvmy_mondo_relaxed.owl Os penis, congenital absence of|baculum, congenital absence of OMIM:606174 owl:Class FOODON:03400361 biolink:NamedThing agency food product type An agency food product type is a class of food product defined by an agency or consortium.|A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0361 This class is designed to hold 3rd party food classification schemes which are being mapped to FoodOn classes using the 'has member' relation. The two hierarchies are not melded into a subclass polyhierarchy because of possible logical inconsistencies in the agency schemes. The hierarchies of agency schemes are as true to their agency representation as possible. http://langual.org owl:Class MONDO:0003934 biolink:NamedThing breast apocrine carcinoma An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. tmpak2llvmy_mondo_relaxed.owl apocrine breast carcinoma|apocrine carcinoma of breast|apocrine adenocarcinoma of breast|breast apocrine adenocarcinoma|apocrine carcinoma of the breast|breast apocrine carcinoma UMLS:C1332316|DOID:6581|NCIT:C5141 owl:Class MONDO:0032577 biolink:NamedThing retinitis pigmentosa 83 tmpak2llvmy_mondo_relaxed.owl RP83|RETINITIS PIGMENTOSA 83 OMIM:618173 owl:Class HP:0011002 biolink:NamedThing Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. tmpak2llvmy_mondo_relaxed.owl Harder, denser, fracture-prone bones|Albers-Schonberg disease|Albers-Schönberg disease|Albers-Schoenberg disease|Marble bone disease UMLS:C0029454|MSH:D010022|SNOMEDCT_US:367489004|SNOMEDCT_US:1926006 sdoelken 2011-02-13T11:58:36Z human_phenotype owl:Class HP:0003307 biolink:NamedThing Hyperlordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. tmpak2llvmy_mondo_relaxed.owl Prominent swayback|Lordosis MSH:D008141|UMLS:C0024003|SNOMEDCT_US:249710008|SNOMEDCT_US:61960001 HP:0002939 human_phenotype owl:Class HP:0010674 biolink:NamedThing Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. tmpak2llvmy_mondo_relaxed.owl Curvature of spine|Abnormal curve of the spine|Abnormal curving of the spine|Abnormal curve of the backbone|Curved spine UMLS:C4023747 sandra1 2010-02-27T06:28:19Z human_phenotype owl:Class MONDO:0011587 biolink:NamedThing cataract 25 A cataract that has material basis in variation in the region 15q21-q22. tmpak2llvmy_mondo_relaxed.owl cataract, central pouch-like, with sutural opacities|cataract type 25|central pouch-like cataract with sutural opacities|CTRCT25|cataract 25|CCSSO|cataract, central saccular, with sutural opacities|central saccular cataract with sutural opacities MESH:C565301|DOID:0110254|OMIM:605728|ICD10:Q12.0 owl:Class MONDO:0012700 biolink:NamedThing renal tubular acidosis, distal, 4, with hemolytic anemia Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl renal tubular acidosis, distal, with hemolytic anemia|distal renal tubular acidosis with anemia|dRTA with anemia|renal tubular acidosis, distal, with normal Red cell morphology|RTA, distal, autosomal recessive, with hemolytic Anemia UMLS:C1969038|ICD10:N25.8|Orphanet:93610|OMIM:611590 owl:Class MONDO:0006258 biolink:NamedThing juvenile polyp A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpak2llvmy_mondo_relaxed.owl retention polyp|juvenile polyp NCIT:C3826|UMLS:C0221273|EFO:1000310 owl:Class HGNC:10969 biolink:NamedThing SLC22A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016081 biolink:NamedThing coronary arterial fistulas Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. tmpak2llvmy_mondo_relaxed.owl Coronaro-cardiac fistula|coronary arterial malformations ICD10:Q24.5|MedDRA:10069441|Orphanet:2041|GARD:0001533 owl:Class MONDO:0015203 biolink:NamedThing coronary artery congenital malformation tmpak2llvmy_mondo_relaxed.owl MedDRA:10061060|ICD10:Q24.5|Orphanet:1081 owl:Class HP:0002118 biolink:NamedThing Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. tmpak2llvmy_mondo_relaxed.owl Abnormality of the cerebral ventricles UMLS:C4025724 human_phenotype owl:Class HP:0020219 biolink:NamedThing Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpak2llvmy_mondo_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. robinp 2020-02-24T14:20:36Z human_phenotype owl:Class MONDO:0010058 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal recessive tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy, scapuloperoneal UMLS:CN074295|OMIM:271220 owl:Class UBERON:0014464 biolink:NamedThing renal fat pad Encapsulated adipose tissue associated with the kidney tmpak2llvmy_mondo_relaxed.owl perirenal fat pad owl:Class MONDO:0010097 biolink:NamedThing Tatsumi factor deficiency tmpak2llvmy_mondo_relaxed.owl Tatsumi factor deficiency OMIM:272650|MESH:C564787|UMLS:C1848931 owl:Class MONDO:0019302 biolink:NamedThing mucopolysaccharidosis with skin involvement tmpak2llvmy_mondo_relaxed.owl MPS with skin involvement 2021-01-01 Orphanet:79388 Reason: duplicate. This will be merged with MONDO:0010674 mucopolysaccharidosis type 2 owl:Class MONDO:0007683 biolink:NamedThing Grant syndrome Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. tmpak2llvmy_mondo_relaxed.owl Grant syndrome|persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia SCTID:723827003|OMIM:138930|GARD:0002559|ICD10:Q87.5|UMLS:C1841835|Orphanet:2097|MESH:C537293 https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome owl:Class MONDO:0011724 biolink:NamedThing encephalopathy due to GLUT1 deficiency Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. tmpak2llvmy_mondo_relaxed.owl G1D|GLUT1 deficiency syndrome 1, autosomal recessive|De Vivo disease|glucose transporter type 1 deficiency|glucose transporter type 1 deficiency syndrome|encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome type 1|GLUT1 DS|GLUT1 deficiency syndrome 1|GLUT1DS1|GLUT1 deficiency syndrome|glucose transporter Protein syndrome|GLUT1-DS|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|glucose transporter type1 (glut-1) deficiency|glucose Transport defect, blood-brain barrier|glut-1 deficiency syndrome|glucose transport defect, blood-brain barrier|glucose transporter protein syndrome MESH:C536830|OMIM:606777|UMLS:C1847501|UMLS:CN030711|ICD10:G93.4|Orphanet:71277|GARD:0009265|EFO:0009139 https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome owl:Class NCBITaxon:13373 biolink:NamedThing Burkholderia mallei tmpak2llvmy_mondo_relaxed.owl Malleomyces mallei|Bacillus mallei|Pseudomonas mallei|Loefferella mallei|Acinetobacter mallei|Pfeifferella mallei|Actinobacillus mallei PMID:16558776|PMID:1283774|GC_ID:11|PMID:12734250 ncbi_taxonomy owl:Class HGNC:8966 biolink:NamedThing PIGL tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003851 biolink:NamedThing diencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. tmpak2llvmy_mondo_relaxed.owl neural crest of future diencephalon|diencephalic neural crest|neural crest diencephalon|future diencephalon neural crest owl:Class MONDO:0001387 biolink:NamedThing penile sarcoma A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. tmpak2llvmy_mondo_relaxed.owl sarcoma of penis|penis sarcoma|penile sarcoma|sarcoma of the penis NCIT:C7730|DOID:11838|UMLS:C0238352 owl:Class MONDO:0019328 biolink:NamedThing macrocystic lymphatic malformation A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces. tmpak2llvmy_mondo_relaxed.owl cavernous lymphangioma|macrocystic lymphangioma|cavernous lymphatic malformation Orphanet:79489|ICD10:D18.1|NCIT:C53316|GARD:0006010 owl:Class MONDO:0008263 biolink:NamedThing polycystic kidney disease 1 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. tmpak2llvmy_mondo_relaxed.owl PKD1|polycystic kidney disease, adult, type I|PKD1 autosomal dominant polycystic kidney disease|APKD1|polycystic kidney disease 1 with or without polycystic liver disease|polycystic kidney disease, adult|Potter type 3 polycystic kidney disease, formerly|polycystic kidney disease type 1|autosomal dominant polycystic kidney disease caused by mutation in PKD1|Potter type 3 polycystic kidney disease|polycystic kidney disease 1|polycystic kidney disease, adult, type 1 SCTID:253878003|DOID:0110858|MESH:C536326|UMLS:C3149841|OMIM:173900 owl:Class MONDO:0017493 biolink:NamedThing fibular hemimelia, bilateral tmpak2llvmy_mondo_relaxed.owl fibular longitudinal meromelia, bilateral Orphanet:295083|ICD10:Q72.6 owl:Class MONDO:0005204 biolink:NamedThing primary antiphospholipid syndrome An antiphospholipid syndrome that occurs as an isolated disorder. tmpak2llvmy_mondo_relaxed.owl SCTID:239892009|UMLS:C0409980|EFO:0002689|ICD9:795.79 owl:Class MONDO:0001087 biolink:NamedThing schizotypal personality disorder A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. tmpak2llvmy_mondo_relaxed.owl ICD9:301.22|NCIT:C92632|MESH:D012569|SCTID:31027006|ICD10:F21|DOID:10646 owl:Class MONDO:0009092 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. tmpak2llvmy_mondo_relaxed.owl PLOSL|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|NHD|PLO-SL|dementia, prefrontal, with bone cysts|presenile dementia with bone cysts|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|dementia, progressive, with lipomembranous polycystic osteodysplasia|brain-bone-fat disease|Nasu-Hakola disease Orphanet:2770|ICD10:E75.2|UMLS:C1857316|ICD9:758.89|DOID:0090112|SCTID:702347001|GARD:9921|OMIMPS:221770|GARD:0009921 owl:Class HP:0011895 biolink:NamedThing Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. tmpak2llvmy_mondo_relaxed.owl Anaemia due to reduced life span of red cells UMLS:C4021112 peter 2012-06-03T09:26:17Z human_phenotype owl:Class MONDO:0018139 biolink:NamedThing scleredema tmpak2llvmy_mondo_relaxed.owl Buschke scleredema 2021-01-01 SCTID:95323007|Orphanet:352763|ICD10:M34.8|GARD:0005975 Reason: duplicate. This will be merged with MONDO:0006606 scleredema adultorum owl:Class MONDO:0013022 biolink:NamedThing restless legs syndrome, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl RLS7|restless legs syndrome, susceptibility to, 7 OMIM:612853 owl:Class HGNC:9343 biolink:NamedThing PRCC tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:33265 biolink:NamedThing Dictyocaulinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33264 biolink:NamedThing Dictyocaulidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011437 biolink:NamedThing microcephaly 4, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH4|microcephaly 4, primary, autosomal recessive OMIM:604321|DOID:0070291|MESH:C565792|UMLS:C1858516 owl:Class MONDO:0011738 biolink:NamedThing bilateral frontoparietal polymicrogyria Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia with neuronal migration defect|bilateral frontoparietal polymicrogyria|polymicrogyria, bilateral frontoparietal|BFPP GARD:0010784|Orphanet:101070|UMLS:C1847352|NCIT:C148367|OMIM:606854|ICD10:Q04.3|MESH:C564652 https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria owl:Class MONDO:0033091 biolink:NamedThing ichthyosis, congenital, autosomal recessive 14 tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis 14|ichthyosis, congenital, autosomal recessive 14|ARCI14 OMIM:617571|UMLS:CN317536|DOID:0080258 owl:Class CHEBI:26537 biolink:NamedThing retinoid Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. tmpak2llvmy_mondo_relaxed.owl retinoids|retinoid owl:Class MONDO:0016398 biolink:NamedThing peroxisomal disease with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 UMLS:CN201329|Orphanet:225686 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: peroxisomal disease' MONDO_0019053 owl:Class MONDO:0008102 biolink:NamedThing sick sinus syndrome 2, autosomal dominant Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpak2llvmy_mondo_relaxed.owl sick sinus syndrome caused by mutation in HCN4|sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2, autosomal dominant|HCN4 sick sinus syndrome|atrial fibrillation with Bradyarrhythmia|sick sinus syndrome 2|Sss, autosomal dominant|sinus node disease, familial, autosomal dominant|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|SSS2 UMLS:C1834144|MESH:C563513|OMIM:163800 owl:Class MONDO:0004483 biolink:NamedThing thyroid gland oncocytic adenoma A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl follicular adenoma of thyroid of oxyphilic cell type|benign oncocytoma of thyroid gland|Hurthle cell adenoma of the thyroid gland|benign oncocytoma of the thyroid gland|follicular adenoma of thyroid gland of oxyphilic cell type|thyroid follicular adenoma of the oxyphilic cell type|Hurthle cell adenoma of thyroid|thyroid oncocytic adenoma|thyroid gland follicular adenoma of oxyphilic cell type|Hurthle cell adenoma|benign oncocytoma of thyroid|Hurthle cell adenoma of the thyroid|benign thyroid gland oncocytoma|benign oncocytoma of the thyroid|thyroid gland follicular adenoma of the oxyphilic cell type|follicular adenoma of the thyroid gland of the oxyphilic cell type|thyroid Hurthle cell adenoma|oncocytic adenoma of thyroid|Hurthle cell adenoma of thyroid gland|thyroid follicular adenoma of oxyphilic cell type|oncocytic adenoma of thyroid gland|oncocytic adenoma of the thyroid gland|thyroid gland oncocytic adenoma|thyroid gland Hurthle cell adenoma|benign thyroid oncocytoma|OAT|oncocytic adenoma of the thyroid|follicular adenoma of the thyroid of the oxyphilic cell type UMLS:C1336750|DOID:8162|ONCOTREE:OAT|NCIT:C6042 owl:Class CL:4006001 biolink:NamedThing fibroblast of skin of scalp A fibroblast that is part of the skin of scalp. tmpak2llvmy_mondo_relaxed.owl skin of scalp fibroblast owl:Class MONDO:0022529 biolink:NamedThing BK-virus nephropathy tmpak2llvmy_mondo_relaxed.owl BK virus nephropathy|nephropathy from BK virus|polyomavirus associated nephropathy|PVAN|nephropathy caused by BK polyomavirus|kidney disease caused by BK polyomavirus|BKN|Polyomavirus nephropathy UMLS:C1697878|DOID:0040086|SCTID:713886006|GARD:0010470|ICD9:079.89 owl:Class HP:0001935 biolink:NamedThing Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. tmpak2llvmy_mondo_relaxed.owl Microcytic anaemia SNOMEDCT_US:234349007|MSH:C562385|UMLS:C0085576 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). human_phenotype owl:Class MONDO:0019892 biolink:NamedThing distal monosomy 7p tmpak2llvmy_mondo_relaxed.owl telomeric deletion 7p|distal monosomy type 7p|distal deletion 7p|monosomy 7pter Orphanet:96126|ICD10:Q93.5 owl:Class NCBITaxon:2842242 biolink:NamedThing Ribozyviria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0100276 biolink:NamedThing Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. tmpak2llvmy_mondo_relaxed.owl Skin pits|Skin pit UMLS:C4022172|UMLS:C4020712 doelkens 2010-08-05T10:51:32Z human_phenotype owl:Class HGNC:12502 biolink:NamedThing SUMO1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:52211 biolink:NamedThing physiological role tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018741 biolink:NamedThing paracetamol poisoning tmpak2llvmy_mondo_relaxed.owl acetaminophen poisoning SCTID:70273001|ICD9:965.4|Orphanet:464458 owl:Class MONDO:0009462 biolink:NamedThing inosine phosphorylase deficiency, immune defect due to tmpak2llvmy_mondo_relaxed.owl inosine phosphorylase deficiency, immune defect due to OMIM:243080|UMLS:C1855737|MESH:C565465 owl:Class MONDO:0010707 biolink:NamedThing Paine syndrome tmpak2llvmy_mondo_relaxed.owl Paine syndrome|Seemanova syndrome 1|microcephaly with spastic diplegia GARD:0009780|UMLS:C1412041|MESH:C538101|OMIM:311400 https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome owl:Class UBERON:0014392 biolink:NamedThing sweat of palm Sweat that is produced by the glands on the palmar and plantar surfaces. tmpak2llvmy_mondo_relaxed.owl palmar sweat|palm sweat owl:Class MONDO:0004005 biolink:NamedThing rete ovarii adenoma An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. tmpak2llvmy_mondo_relaxed.owl adenoma, rete ovarii, benign|rete ovarii adenoma UMLS:C1514905|NCIT:C40018|DOID:6837 owl:Class HGNC:6080 biolink:NamedThing INPPL1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:12083 biolink:NamedThing Human poliovirus 2 tmpak2llvmy_mondo_relaxed.owl Poliovirus 2|Human Poliovirus type 2|HPV-2|Poliovirus type 2 GC_ID:1 ncbi_taxonomy owl:Class GO:0010876 biolink:NamedThing lipid localization Any process in which a lipid is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl lipid localisation owl:Class MONDO:0022781 biolink:NamedThing cleft lip palate-tetraphocomelia tmpak2llvmy_mondo_relaxed.owl GARD:0001383 https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia owl:Class MONDO:0016504 biolink:NamedThing primary unilateral adrenal hyperplasia Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. tmpak2llvmy_mondo_relaxed.owl PUAH SCTID:715868005|UMLS:C4274967|Orphanet:231580|ICD10:E26.0 owl:Class NCBITaxon:1809 biolink:NamedThing Mycobacterium ulcerans tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:12089250 ncbi_taxonomy owl:Class MONDO:0001435 biolink:NamedThing bullous retinoschisis tmpak2llvmy_mondo_relaxed.owl ICD9:361.12|UMLS:C0344289|SCTID:65545003|DOID:12108 owl:Class MONDO:0043127 biolink:NamedThing mehta lewis patton syndrome tmpak2llvmy_mondo_relaxed.owl congenital heart disease, ptosis, hypodontia, and craniosynostosis MESH:C536147|GARD:0003450|UMLS:C2931120 owl:Class MONDO:0012255 biolink:NamedThing chromosome 18 pericentric inversion tmpak2llvmy_mondo_relaxed.owl chromosome 18 pericentric inversion UMLS:C1836305|MESH:C563734|OMIM:609334 owl:Class MONDO:0010251 biolink:NamedThing intellectual disability, X-linked 50 tmpak2llvmy_mondo_relaxed.owl MRX50|mental retardation, X-linked 50|intellectual disability, X-linked 50 UMLS:C1848087|MESH:C564713|OMIM:300115 owl:Class CHEBI:52217 biolink:NamedThing pharmaceutical Any substance introduced into a living organism with therapeutic or diagnostic purpose. tmpak2llvmy_mondo_relaxed.owl pharmaceuticals|medicament|farmaco owl:Class MONDO:0011602 biolink:NamedThing autosomal recessive nonsyndromic deafness 27 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 27|DFNB27|deafness, autosomal recessive 27|autosomal recessive deafness 27 DOID:0110485|ICD10:H90.3|OMIM:605818|MESH:C565287|UMLS:C1853941 owl:Class GO:0051885 biolink:NamedThing positive regulation of timing of anagen Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpak2llvmy_mondo_relaxed.owl up regulation of anagen|stimulation of anagen|upregulation of anagen|positive regulation of anagen|up-regulation of anagen|activation of anagen owl:Class UBERON:0005045 biolink:NamedThing mucosa of ethmoidal sinus A mucosa that is part of a ethmoid sinus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ethmoid sinus mucosa|organ mucosa of ethmoid sinus|ethmoid sinus mucosa of organ|mucous membrane of ethmoid sinus|ethmoid sinus mucous membrane|mucosa of ethmoid sinus|mucosa of organ of ethmoid sinus|ethmoid sinus organ mucosa|ethmoidal sinus mucosa owl:Class MONDO:0011173 biolink:NamedThing thrombocythemia 2 Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. tmpak2llvmy_mondo_relaxed.owl thrombocythemia 2|THCYT2|thrombocythemia type 2|MPL familial thrombocytosis|familial thrombocytosis caused by mutation in MPL OMIM:601977|UMLS:C3275998 https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0027767 biolink:NamedThing partial lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. tmpak2llvmy_mondo_relaxed.owl UMLS:C4316789|NCIT:C131296|DOID:0080299 owl:Class HGNC:29521 biolink:NamedThing C12orf57 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001212 biolink:NamedThing regulation of vasculogenesis Any process that modulates the frequency, rate or extent of vasculogenesis. tmpak2llvmy_mondo_relaxed.owl regulation of vascular morphogenesis owl:Class MONDO:0022897 biolink:NamedThing craniosynostosis exostoses nevus epibulbar dermoid tmpak2llvmy_mondo_relaxed.owl GARD:0001593 https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid owl:Class UBERON:0000171 biolink:NamedThing respiration organ Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpak2llvmy_mondo_relaxed.owl organ of apparatus respiratorius|respiratory organ|respiratory system organ|organ of respiratory system|gas exchange organ|apparatus respiratorius organ|breathing organ owl:Class MONDO:0021496 biolink:NamedThing benign neoplasm of lip A benign neoplasm that involves the lip. tmpak2llvmy_mondo_relaxed.owl benign Lip tumor|benign Lip neoplasm|lip benign neoplasm|lip neoplasm, benign|benign neoplasm of the Lip|benign tumor of the Lip|benign tumor of Lip ICD10:D10.0|SCTID:92185002|NCIT:C3591|UMLS:C0153932|ICD9:210.0 owl:Class MONDO:0017080 biolink:NamedThing occipital encephalocele tmpak2llvmy_mondo_relaxed.owl Orphanet:268823|ICD10:Q01.2|SCTID:42376006 owl:Class MONDO:0032788 biolink:NamedThing cerebellar atrophy with seizures and variable developmental delay tmpak2llvmy_mondo_relaxed.owl CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY|CASVDD OMIM:618501 owl:Class MONDO:0004202 biolink:NamedThing adrenal medulla carcinoma A carcinoma that arises from epithelial cells of the adrenal medulla tmpak2llvmy_mondo_relaxed.owl carcinoma of adrenal medulla|adrenal medulla carcinoma DOID:7379 owl:Class MONDO:0012128 biolink:NamedThing dextro-looped transposition of the great arteries 1 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. tmpak2llvmy_mondo_relaxed.owl D-TGA|DTGA1|dextro-looped transposition of the great arteries caused by mutation in MED13L|transposition of the great arteries, dextro-looped type 1|transposition of the great arteries, dextro-looped 1|MED13L dextro-looped transposition of the great arteries|dextro-looped transposition of the great arteries type 1 OMIM:608808|ICD10:Q20.3|DOID:0060771|MESH:C563853|GARD:0007795|UMLS:C1837341 owl:Class MONDO:0008834 biolink:NamedThing asthma, nasal polyps, and aspirin intolerance tmpak2llvmy_mondo_relaxed.owl Asa triad|asthma and nasal polyps|asthma, nasal polyps, and aspirin intolerance|asthma, aspirin-induced, susceptibility to UMLS:C1859648|OMIM:208550|DOID:0111579 owl:Class MONDO:0032801 biolink:NamedThing erythrokeratodermia variabilis et progressiva 6 tmpak2llvmy_mondo_relaxed.owl ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6|EKVP6 OMIM:618531 owl:Class MONDO:0018312 biolink:NamedThing histoplasmosis A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. tmpak2llvmy_mondo_relaxed.owl darling disease|Histoplasma disease or disorder|Histoplasma caused disease or disorder|Histoplasma infectious disease ICD9:115.90|NCIT:C77201|ICD10:B39.1|ICD10:B39.0|EFO:0007310|MedDRA:10021808|ICD10:B39.2|ICD10:B39.9|Orphanet:390|MESH:D006660|ICD9:115.9|UMLS:C0019655|MedDRA:10020141|ICD9:115.99|DOID:1731|SCTID:12962009|ICD10:B39.4|ICD10:B39.5|ICD10:B39|ICD9:115|ICD10:B39.3 owl:Class MONDO:0020759 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl epilepsy, childhood absence, susceptibility to, 1|ECA1 OMIM:600131 owl:Class MONDO:0060585 biolink:NamedThing neuronopathy, distal hereditary motor, type 9 tmpak2llvmy_mondo_relaxed.owl neuropathy, distal hereditary motor, type 9|HMN9|neuronopathy, distal hereditary motor, type IX OMIM:617721|DOID:0111212|UMLS:C4540265 owl:Class MONDO:0009851 biolink:NamedThing peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain tmpak2llvmy_mondo_relaxed.owl peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain MESH:C564894|OMIM:260970|UMLS:C1850022 owl:Class MONDO:0010050 biolink:NamedThing spastic pseudosclerosis tmpak2llvmy_mondo_relaxed.owl disseminated encephalomyelopathy|Corticopallidodegeneration|spastic pseudosclerosis UMLS:C0599464|MESH:C563024|OMIM:270900 owl:Class MONDO:0007579 biolink:NamedThing esterase C tmpak2llvmy_mondo_relaxed.owl esterase type C|esterase C|ESC OMIM:133270 Editor note: consider obsoleting owl:Class MONDO:0032635 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 32 tmpak2llvmy_mondo_relaxed.owl MC1DN32|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 OMIM:618252 owl:Class MONDO:0030928 biolink:NamedThing microcephaly 26, primary, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MCPH26|microcephaly 26, primary, autosomal dominant OMIM:619179 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class NCBITaxon:2732459 biolink:NamedThing Resentoviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732405 biolink:NamedThing Duplornaviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003678 biolink:NamedThing silent myocardial infarction A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. tmpak2llvmy_mondo_relaxed.owl silent myocardial infarction UMLS:C0340324|NCIT:C35400|SCTID:233843008|DOID:5854 owl:Class MONDO:0009541 biolink:NamedThing lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis tmpak2llvmy_mondo_relaxed.owl lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis MESH:C565427|UMLS:C1855470|OMIM:247800 owl:Class HGNC:3706 biolink:NamedThing ATP8B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020816 biolink:NamedThing miliaria papulosa tmpak2llvmy_mondo_relaxed.owl SCTID:201192006 owl:Class MONDO:0030837 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities tmpak2llvmy_mondo_relaxed.owl NEDMILEG OMIM:619092 owl:Class MONDO:0007436 biolink:NamedThing dentin dysplasia type I Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth. tmpak2llvmy_mondo_relaxed.owl dentin dysplasia, type I|dentin dysplasia, type 1|dentin dysplasia, Shields type 1|dentin dysplasia type I|rootless teeth|DD-I|DTDP1|dentin dysplasia, type I, with extreme microdontia and misshapen teeth|radicular dentin dysplasia UMLS:C0399379|ICD9:520.5|GARD:0001807|MESH:C531665|MESH:C538215|OMIM:125400|ICD10:K00.5|Orphanet:99789|SCTID:109493006 https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1 owl:Class OBO:CHR_9606-chr1p21.3 biolink:NamedThing chr1p21.3 (Human) tmpak2llvmy_mondo_relaxed.owl 99300000 94300000 hg38 owl:Class MONDO:0011631 biolink:NamedThing hemochromatosis type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpak2llvmy_mondo_relaxed.owl hereditary hemochromatosis caused by mutation in SLC40A1|autosomal dominant hereditary hemochromatosis|ferroportin disease|hemochromatosis, type 4|hemochromatosis, autosomal dominant|SLC40A1 hereditary hemochromatosis|HFE4|hemochromatosis due to defect in ferroportin DOID:0111028|ICD10:E83.1|OMIM:606069|UMLS:C1853733|Orphanet:139491|MESH:C537249|GARD:0010094|SCTID:719975002 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 owl:Class MONDO:0009551 biolink:NamedThing magnesium, elevated red cell tmpak2llvmy_mondo_relaxed.owl magnesium, elevated red cell OMIM:248260 owl:Class UBERON:0016410 biolink:NamedThing male breast A breast that is part of a male organism. tmpak2llvmy_mondo_relaxed.owl mamma masculina owl:Class HGNC:464 biolink:NamedThing AMH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004687 biolink:NamedThing severe nonproliferative diabetic retinopathy tmpak2llvmy_mondo_relaxed.owl severe nonproliferative retinopathy|high risk non proliferative diabetic retinopathy|severe nonproliferative diabetic retinopathy|severe NPDR|severe npdr SCTID:312905005|ICD9:362.06|DOID:8946|UMLS:C0730278 owl:Class MONDO:0001661 biolink:NamedThing background diabetic retinopathy An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. tmpak2llvmy_mondo_relaxed.owl non proliferative diabetic retinopathy|non-proliferative diabetic retinopathy ICD9:362.01|ICD9:362.03|DOID:13208|NCIT:C35668|UMLS:C0004606|SCTID:390834004 owl:Class MONDO:0033564 biolink:NamedThing oocyte maturation defect 8 tmpak2llvmy_mondo_relaxed.owl OOMD8|OOCYTE MATURATION DEFECT 8 OMIM:619009 owl:Class ECTO:9001935 biolink:NamedThing exposure to oxidising agent An exposure to oxidising agent. tmpak2llvmy_mondo_relaxed.owl exposure to oxidising agent owl:Class MONDO:0008937 biolink:NamedThing cerebellar ataxia, benign, with thermoanalgesia tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, benign, with thermoanalgesia|cerebellar ataxia with loss of pain and temperature sensation UMLS:C1859303|OMIM:212890|MESH:C565868 owl:Class MONDO:0001636 biolink:NamedThing mechanical entropion tmpak2llvmy_mondo_relaxed.owl UMLS:C0155189|ICD9:374.02|SCTID:38683003|DOID:13112 owl:Class HGNC:13398 biolink:NamedThing NSDHL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021548 biolink:NamedThing total early-onset cataract tmpak2llvmy_mondo_relaxed.owl cataract, total congenital with posterior sutural opacities in heterozygotes|CCT|cataract, total congenital ICD10:Q12.0|Orphanet:98994|GARD:0001159 owl:Class HP:0031058 biolink:NamedThing Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. tmpak2llvmy_mondo_relaxed.owl 2017-05-28 22:14:33+00:00 peter human_phenotype owl:Class MONDO:0022982 biolink:NamedThing die Smulders Vles Fryns syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001858 https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome owl:Class GO:0022834 biolink:NamedThing ligand-gated channel activity Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C36887 biolink:NamedThing Neoplastic Connective and Soft Tissue Cell tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:853 biolink:NamedThing ATP6V1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011796 biolink:NamedThing epilepsy, partial, with pericentral spikes tmpak2llvmy_mondo_relaxed.owl PEPS|Epps|epilepsy, partial, with pericentral spikes OMIM:607221|UMLS:C1846609|MESH:C564605 owl:Class MONDO:0015468 biolink:NamedThing craniosynostosis-cataract syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q75.0|Orphanet:1530|UMLS:CN226684 owl:Class CHEBI:33890 biolink:NamedThing cobalt coordination entity tmpak2llvmy_mondo_relaxed.owl cobalt coordination entity|cobalt coordination compounds|cobalt coordination entities owl:Class CHEBI:33861 biolink:NamedThing transition element coordination entity tmpak2llvmy_mondo_relaxed.owl transition metal coordination compounds|transition element coordination entities|transition metal coordination entities owl:Class UBERON:0016402 biolink:NamedThing mesocolic lymph node tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0039168 biolink:NamedThing colic lymph node tmpak2llvmy_mondo_relaxed.owl pericolonic lymph node|pericolic lymph node|colic node owl:Class MONDO:0033372 biolink:NamedThing developmental and epileptic encephalopathy, 63 tmpak2llvmy_mondo_relaxed.owl DEE63|EIEE63|epileptic encephalopathy, early infantile, 63 UMLS:CN244926|OMIM:617976|DOID:0080426 owl:Class HGNC:2845 biolink:NamedThing DGCR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100436 biolink:NamedThing cataract 2, multiple types Any cataract in which the cause of the disease is a mutation in the CRYGC gene. tmpak2llvmy_mondo_relaxed.owl cataract 2 multiple types|cataract 2, multiple types, with or without microcornea|CTRCT2|cataract 2 multiple types with or without microcornea|cataract, Coppock-like DOID:0110235|OMIM:604307 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class MONDO:0005830 biolink:NamedThing lumpy skin disease A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. tmpak2llvmy_mondo_relaxed.owl EFO:0007349|UMLS:C0024106|MESH:D008166 owl:Class HGNC:1516 biolink:NamedThing CAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002338 biolink:NamedThing extratemporal epilepsy An epilepsy syndrome that is located in an area of the brain other than the temporal lobe. tmpak2llvmy_mondo_relaxed.owl extratemporal epilepsy ICD9:345.80|DOID:2544|SCTID:111498005|UMLS:C0270849|NCIT:C7760 owl:Class MONDO:0017066 biolink:NamedThing cervical spina bifida aperta tmpak2llvmy_mondo_relaxed.owl UMLS:CN202425|ICD9:741.91|Orphanet:268392|SCTID:425687007 owl:Class GO:0004176 biolink:NamedThing ATP-dependent peptidase activity Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. tmpak2llvmy_mondo_relaxed.owl ATP-dependent proteolysis owl:Class CHEBI:35695 biolink:NamedThing dicarboxylic acid monoanion Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. tmpak2llvmy_mondo_relaxed.owl dicarboxylic acid monoanions owl:Class MONDO:0012848 biolink:NamedThing Meckel syndrome, type 6 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpak2llvmy_mondo_relaxed.owl Meckel-Gruber syndrome, type 6|Meckel syndrome caused by mutation in CC2D2A|CC2D2A Meckel syndrome|Meckel syndrome 6|Meckel syndrome, type 6|MKS6 ICD10:Q61.9|UMLS:C2676790|OMIM:612284|DOID:0070120|MESH:C567365 owl:Class NCBITaxon:43735 biolink:NamedThing Tabanomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000219 biolink:NamedThing Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). tmpak2llvmy_mondo_relaxed.owl Decreased volume of upper lip|Thin upper lips|Thin vermilion border of upper lip|Thin red part of the upper lip|Decreased volume of upper lip vermilion|Decreased height of upper lip vermilion|Thin upper lip UMLS:C1865017 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0200086|HP:0200062 human_phenotype owl:Class MONDO:0013275 biolink:NamedThing hemolytic anemia due to glucophosphate isomerase deficiency Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Orphanet:712|ICD10:D55.2|OMIM:613470|UMLS:C3150730|GARD:0002502|UMLS:CN072763 owl:Class HGNC:23791 biolink:NamedThing INF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016905 biolink:NamedThing partial deletion of the long arm of chromosome 6 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl partial monosomy of the long arm of chromosome 6|partial monosomy of chromosome 6q|6q deletion|partial monosomy 6q|6q monosomy|partial deletion of the long arm of chromosome type 6|monosomy 6q|partial deletion of chromosome 6q|chromosome 6q deletion|deletion 6q MESH:C537807|UMLS:C0795816|Orphanet:262047|ICD10:Q93.5|GARD:0003760 owl:Class MONDO:0017931 biolink:NamedThing hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. tmpak2llvmy_mondo_relaxed.owl HIBM4 ICD10:G71.8|UMLS:CN227223|Orphanet:324381 owl:Class MONDO:0008496 biolink:NamedThing storm syndrome tmpak2llvmy_mondo_relaxed.owl storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue OMIM:185069|MESH:C566109|UMLS:C1861452|GARD:0005035 https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome owl:Class MONDO:0018763 biolink:NamedThing Tubulinopathy-associated dysgyria tmpak2llvmy_mondo_relaxed.owl brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome UMLS:CN242152|Orphanet:467166 owl:Class MONDO:0010131 biolink:NamedThing thyroid hormone resistance, generalized, autosomal recessive A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. tmpak2llvmy_mondo_relaxed.owl thyroid hormone unresponsiveness|GRTH|THRB|thyroid hormone receptor BETA|thyroid hormone Resistance syndrome|thyroid hormone Resistance|Refetoff syndrome|Gthr|thyroid hormone resistance, generalized, autosomal recessive OMIM:274300|GARD:0000301|HGNC:11799|NCIT:C85191 owl:Class ECTO:4000031 biolink:NamedThing exposure to increased water temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water. tmpak2llvmy_mondo_relaxed.owl exposure to increased amount in temperature of water owl:Class NCBITaxon:2560069 biolink:NamedThing Avulavirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11158 biolink:NamedThing Paramyxoviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007463 biolink:NamedThing distal osteosclerosis tmpak2llvmy_mondo_relaxed.owl distal osteosclerosis|osteosclerosis, distal UMLS:C1852063|MESH:C565093|OMIM:126250 owl:Class MONDO:0009671 biolink:NamedThing intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. tmpak2llvmy_mondo_relaxed.owl Chudley Rozdilsky syndrome|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism|Chudley syndrome|Chudley-Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism OMIM:253320|Orphanet:3068|SCTID:764959000|ICD10:Q87.8|MESH:C535458|GARD:0001358|UMLS:C1854663 owl:Class MONDO:0014619 biolink:NamedThing trichothiodystrophy 3, photosensitive tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy, complementation group A|TTD3|trichothiodystrophy 3, photosensitive OMIM:616395|UMLS:C4017171 owl:Class MONDO:0015440 biolink:NamedThing ring chromosome 6 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. tmpak2llvmy_mondo_relaxed.owl rose cluster 6|Ring chromosome type 6|Ring chromosome 6 syndrome|Ring 6|R6|chromosome 6 ring NCIT:C121985|SCTID:765488003|ICD10:Q93.2|Orphanet:1448|MESH:C537763|GARD:0006095 https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 owl:Class MONDO:0012661 biolink:NamedThing susceptibility to visceral leishmaniasis, 3 tmpak2llvmy_mondo_relaxed.owl kala-AZAR, susceptibility to, 3|KAZA3|leishmaniasis, visceral, susceptibility to, 3 OMIM:611382 owl:Class MONDO:0023573 biolink:NamedThing Kozlowski Warren Fisher syndrome tmpak2llvmy_mondo_relaxed.owl cloverleaf skull generalised bone dysplasia MESH:C537614|GARD:0000353|UMLS:C2931546 https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome owl:Class MONDO:0034186 biolink:NamedThing autosomal recessive extra-oral halitosis tmpak2llvmy_mondo_relaxed.owl Orphanet:562538 owl:Class HGNC:2597 biolink:NamedThing CYP1B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010154 biolink:NamedThing trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. tmpak2llvmy_mondo_relaxed.owl trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet|trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia ICD10:Q87.0|Orphanet:3368|OMIM:275595|UMLS:C1848743|MESH:C564759|GARD:0005126|GARD:0005277 owl:Class MONDO:0008554 biolink:NamedThing thrombocythemia 1 tmpak2llvmy_mondo_relaxed.owl THCYT1|thrombocythemia type 1|thrombocytosis 1|thrombocythemia 1 OMIM:187950|UMLS:C3277671 https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0005314 biolink:NamedThing relapsing-remitting multiple sclerosis The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpak2llvmy_mondo_relaxed.owl Relapsing-remitting MS|RRMS MESH:D020529|DOID:2378|SCTID:426373005|UMLS:C0751967|EFO:0003929 owl:Class MONDO:0019196 biolink:NamedThing Foix-Alajouanine syndrome Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. tmpak2llvmy_mondo_relaxed.owl Subacute angiohypertrophic myelomalacia|angiodysgenetic necrotizing myelopathy|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute necrotizing myelitis|Subacute ascending necrotizing myelitis UMLS:CN205776|Orphanet:79093|ICD10:G37.4|SCTID:230379007|ICD9:323.9 owl:Class MONDO:0001870 biolink:NamedThing acute poststreptococcal glomerulonephritis Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. tmpak2llvmy_mondo_relaxed.owl post-streptococcal glomerulonephritis UMLS:C0403414|SCTID:68544003|DOID:14064 owl:Class MONDO:0010756 biolink:NamedThing Von Willebrand disease, X-linked form tmpak2llvmy_mondo_relaxed.owl Von Willebrand disease, X-linked form|Von Willebrand disease, X-linked UMLS:C1839113|OMIM:314560|MESH:C564041 owl:Class MONDO:0010577 biolink:NamedThing deafness, X-linked 1 tmpak2llvmy_mondo_relaxed.owl deafness, X-linked type 1|deafness, X-linked 1|deafness, X-linked 2, sensorineural congenital|DFNX1 UMLS:C1844677|OMIM:304500|DOID:0111739|MESH:C564433 owl:Class UBERON:8410043 biolink:NamedThing bronchus submucosal gland A submucosal gland located in a bronchus. tmpak2llvmy_mondo_relaxed.owl submucosal bronchial gland|bronchial submucosal gland|submucosal bronchus gland|airway submucosal gland owl:Class MONDO:0001730 biolink:NamedThing urethral syndrome tmpak2llvmy_mondo_relaxed.owl ICD9:597.81|SCTID:31273004|DOID:13498|UMLS:C0156279|ICD10:N34.3 owl:Class GO:0005764 biolink:NamedThing lysosome A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013806 biolink:NamedThing familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome tmpak2llvmy_mondo_relaxed.owl FCTCS|cutaneous telangiectasia and cancer syndrome, familial|telangiectasia, cutaneous, and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM:614564|Orphanet:313846|UMLS:C3281203 owl:Class MONDO:0009244 biolink:NamedThing Freesia Flowers, inability to smell tmpak2llvmy_mondo_relaxed.owl Freesia Flowers, inability to smell OMIM:229250 owl:Class MONDO:0018682 biolink:NamedThing congenital insensitivity to pain with severe intellectual disability tmpak2llvmy_mondo_relaxed.owl congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay|congenital analgesia with severe intellectual disability|congenital insensitivity to pain with preserved temperature sensation Orphanet:453510 owl:Class HGNC:32940 biolink:NamedThing NKX2-6 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1630 biolink:NamedThing CD151 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q25 biolink:NamedThing chr15q25 (Human) tmpak2llvmy_mondo_relaxed.owl 88500000 78000000 hg38 owl:Class MONDO:0001329 biolink:NamedThing accommodative spasm tmpak2llvmy_mondo_relaxed.owl spasm of accommodation ICD10:H52.53|DOID:11637|ICD9:367.53|UMLS:C0152196|SCTID:30069002 owl:Class GO:0030279 biolink:NamedThing negative regulation of ossification Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpak2llvmy_mondo_relaxed.owl down-regulation of ossification|downregulation of ossification|inhibition of ossification|negative regulation of bone formation|down regulation of ossification|negative regulation of bone biosynthesis owl:Class MONDO:0021075 biolink:NamedThing neoplastic polyp tmpak2llvmy_mondo_relaxed.owl neoplastic polyp UMLS:C1334941|NCIT:C7068 owl:Class GO:0035239 biolink:NamedThing tube morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11119 biolink:NamedThing SMO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007622 biolink:NamedThing flood factor deficiency tmpak2llvmy_mondo_relaxed.owl flood factor deficiency MESH:C565009|OMIM:136150|UMLS:C1851056 owl:Class MONDO:0012999 biolink:NamedThing guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. tmpak2llvmy_mondo_relaxed.owl guanidinoacetate N-methyltransferase activity disease|cerebral creatine deficiency syndrome type 2|disorder of guanidinoacetate N-methyltransferase activity|GAMT deficiency|cerebral creatine deficiency syndrome 2|creatine deficiency syndrome due to GAMT deficiency|CCDS2|guanidinoacetate methyltransferase deficiency UMLS:C0574080|ICD10:E72.8|MESH:C537622|GARD:0002578|OMIM:612736|ICD9:277.6|DOID:0050799|SCTID:124239003|Orphanet:382 https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency owl:Class GO:1901863 biolink:NamedThing positive regulation of muscle tissue development Any process that activates or increases the frequency, rate or extent of muscle tissue development. tmpak2llvmy_mondo_relaxed.owl activation of muscle tissue development|upregulation of muscle tissue development|up-regulation of muscle tissue development|up regulation of muscle tissue development owl:Class HGNC:11494 biolink:NamedThing SYN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035053 biolink:NamedThing interlobular duct of salivary gland tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001520 biolink:NamedThing kleptomania A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. tmpak2llvmy_mondo_relaxed.owl pathological stealing|kleptomania NCIT:C94333|ICD9:312.32|SCTID:69361009|ICD10:F63.2|DOID:12400 owl:Class MONDO:0013139 biolink:NamedThing neutropenia, severe congenital, 2, autosomal dominant Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. tmpak2llvmy_mondo_relaxed.owl GFI1 autosomal dominant severe congenital neutropenia|neutropenia, severe congenital, 2, autosomal dominant|autosomal dominant severe congenital neutropenia caused by mutation in GFI1|SCN2 UMLS:C2751288|OMIM:613107|MESH:C567748 owl:Class MONDO:0000783 biolink:NamedThing orange allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. tmpak2llvmy_mondo_relaxed.owl orange allergy|Citrus sinensis fruit allergy DOID:0060508 owl:Class HGNC:811 biolink:NamedThing ATP2A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011386 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 1 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene. tmpak2llvmy_mondo_relaxed.owl nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, protection against|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|end-stage renal disease, diabetic, susceptibility to|VEGFA microvascular complications of diabetes, susceptibility|neuropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 1|microvascular complications of diabetes, susceptibility to|microvascular complications of diabetes, susceptibility to, 1|MVCD1 OMIM:603933 owl:Class HGNC:3226 biolink:NamedThing EFNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020415 biolink:NamedThing Kommerell diverticulum Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. tmpak2llvmy_mondo_relaxed.owl ICD10:Q25.4|Orphanet:99077|SCTID:74561007 owl:Class MONDO:0044715 biolink:NamedThing metopic ridging-ptosis-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:502430 owl:Class MONDO:0017037 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease tmpak2llvmy_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a metabolic disease 2022-03-01 Orphanet:264968|UMLS:CN202348 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class HP:0001396 biolink:NamedThing Cholestasis Impairment of bile flow due to obstruction in bile ducts. tmpak2llvmy_mondo_relaxed.owl Slowed or blocked flow of bile from liver SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|UMLS:C0008370|MSH:D002779|SNOMEDCT_US:197446008 human_phenotype owl:Class HGNC:3662 biolink:NamedThing FGB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16266 biolink:NamedThing SLC19A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019112 biolink:NamedThing cancer-associated retinopathy Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. tmpak2llvmy_mondo_relaxed.owl CAR syndrome|paraneoplastic retinopathy Orphanet:71505|ICD9:362.10|MESH:D059545|SCTID:404663008 owl:Class CL:0002485 biolink:NamedThing retinal melanocyte A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-12-03T03:25:32Z cell owl:Class MONDO:0019333 biolink:NamedThing autosomal recessive hyperinsulinism due to SUR1 deficiency tmpak2llvmy_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency Orphanet:79643|ICD10:E16.1|UMLS:CN206002 owl:Class MONDO:0023167 biolink:NamedThing focal alopecia congenital megalencephaly tmpak2llvmy_mondo_relaxed.owl GARD:0002349 https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly owl:Class MONDO:0004318 biolink:NamedThing pulmonary type ovarian small cell carcinoma An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. tmpak2llvmy_mondo_relaxed.owl ovarian small cell carcinoma, pulmonary type UMLS:C1518737|DOID:7650|NCIT:C40440 owl:Class MONDO:0005880 biolink:NamedThing oesophagostomiasis Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. tmpak2llvmy_mondo_relaxed.owl infection by Oesophagostomum|Oesophagostomum caused disease or disorder|Oesophagostomum infectious disease|Oesophagostomum disease or disorder ICD9:127.7|MESH:D009814|EFO:0007400|SCTID:22500005|UMLS:C0028887|DOID:3983 owl:Class CL:2000029 biolink:NamedThing central nervous system neuron Any neuron that is part of a central nervous system. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T01:17:43Z cell owl:Class MONDO:0021013 biolink:NamedThing trichothiodystrophy 4, nonphotosensitive A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. tmpak2llvmy_mondo_relaxed.owl trichothiodystrophy-neurocutaneous syndrome|hair-brain syndrome|BIDS syndrome|trichothiodystrophy, nonphotosensitive 1|TTD4|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|Pollitt syndrome|Amish brittle hair brain syndrome|trichothiodystrophy 4, nonphotosensitive|nonphotosensitive trichothiodystrophy|MPLKIP nonphotosensitive trichothiodystrophy DOID:0050528|OMIM:234050|Orphanet:75790|SCTID:403796005|ICD9:704.8|NCIT:C146899|ICD9:783.43 owl:Class MONDO:0021644 biolink:NamedThing esophageal varices without bleeding tmpak2llvmy_mondo_relaxed.owl esophageal varices without bleeding ICD10:I85.9|SCTID:14223005|UMLS:C0267092|ICD10:I85.00|ICD9:456.1 owl:Class UBERON:0005035 biolink:NamedThing mucosa of left main bronchus A mucosa that is part of a left main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucosa of left bronchus|mucosa of organ of left main bronchus|organ mucosa of left bronchus|mucosa of left principal bronchus|left main bronchus organ mucosa|left bronchus mucosa of organ|mucous membrane of left principal bronchus|left bronchus mucous membrane|left main bronchial mucosa|left main bronchus mucous membrane|mucosa of organ of left bronchus|mucous membrane of left main bronchus|left bronchus organ mucosa|organ mucosa of left main bronchus|left principal bronchus mucosa|left principal bronchus mucosa of organ|left principal bronchus organ mucosa|left main bronchus mucosa|organ mucosa of left principal bronchus|mucosa of organ of left principal bronchus|mucous membrane of left bronchus|left bronchus mucosa|left principal bronchus mucous membrane|left main bronchus mucosa of organ owl:Class MONDO:0000316 biolink:NamedThing opportunistic bacterial infectious disease tmpak2llvmy_mondo_relaxed.owl DOID:0050340 owl:Class MONDO:0011238 biolink:NamedThing chondrodysplasia punctata, brachytelephalangic, autosomal tmpak2llvmy_mondo_relaxed.owl brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal OMIM:602497 owl:Class MONDO:0007321 biolink:NamedThing autosomal dominant chondrodysplasia punctata Autosomal dominant form of chondrodysplasia punctata. tmpak2llvmy_mondo_relaxed.owl chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata Sheffield type|chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to vitamin K deficiency OMIM:118650|ICD10:Q77.3|MESH:C563248|GARD:0001298|Orphanet:79344|DOID:0060293 MONDO:0022728 https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type owl:Class UBERON:0008242 biolink:NamedThing lower back muscle A muscle of back that is part of a lower back. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0035148 biolink:NamedThing tube formation Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. tmpak2llvmy_mondo_relaxed.owl lumen formation in an anatomical structure|tube lumen formation owl:Class MONDO:0011788 biolink:NamedThing cloverleaf skull-multiple congenital anomalies syndrome This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. tmpak2llvmy_mondo_relaxed.owl multiple congenital anomalies syndrome with cloverleaf skull SCTID:717771007|UMLS:C1846671|OMIM:607161|ICD10:Q87.8|Orphanet:93267|MESH:C564611 owl:Class CHEBI:38032 biolink:NamedThing carbotricyclic compound A carbopolyclic compound comprising of three carbocyclic rings. tmpak2llvmy_mondo_relaxed.owl carbotricyclic compounds owl:Class MONDO:0007649 biolink:NamedThing gastric juice peptides tmpak2llvmy_mondo_relaxed.owl gastric juice peptides OMIM:137220 owl:Class MONDO:0032644 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl EV3|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 OMIM:618267 owl:Class MONDO:0007458 biolink:NamedThing digitotalar dysmorphism; ulnar drift, hereditary tmpak2llvmy_mondo_relaxed.owl digitotalar dysmorphism|ulnar drift, hereditary OMIM:126050 owl:Class MONDO:0017729 biolink:NamedThing metachromatic leukodystrophy, late infantile form tmpak2llvmy_mondo_relaxed.owl MLD, late infantile form|arylsulfatase A deficiency, late infantile form ICD10:E75.2|Orphanet:309256 owl:Class MONDO:0018687 biolink:NamedThing progressive muscular atrophy A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. tmpak2llvmy_mondo_relaxed.owl pure progressive muscular atrophy|PMA|progressive spinal muscular atrophy NCIT:C85027|ICD10:G12.2|ICD9:335.21|Orphanet:454706|SCTID:88923002|ICD10:G12.21|EFO:0008864|DOID:318|UMLS:C0917981 owl:Class MONDO:0025354 biolink:NamedThing spermatogenic failure, X-linked, 3 tmpak2llvmy_mondo_relaxed.owl SPGFX3|spermatogenic failure, X-linked, 3 OMIM:301059 owl:Class ENVO:00002261 biolink:NamedThing forest soil A portion of soil which is found in a forested area. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018282 biolink:NamedThing qualitative or quantitative defects of alpha-dystroglycan tmpak2llvmy_mondo_relaxed.owl Alpha-dystroglycanopathy|dystroglycanopathy|qualitative or quantitative defects of alpha-dystroglycan ICD10:G71.2|Orphanet:371024 owl:Class HGNC:5476 biolink:NamedThing IGFBP7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017461 biolink:NamedThing familial isolated clinodactyly of fingers Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. tmpak2llvmy_mondo_relaxed.owl SCTID:763691008|Orphanet:295014|ICD10:Q68.1 owl:Class MONDO:0008030 biolink:NamedThing facioscapulohumeral muscular dystrophy 1 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, facioscapulohumeral|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|facioscapulohumeral muscular dystrophy type 1|facioscapulohumeral muscular dystrophy, infantile|FSHMD1A|FSHD|FSHD1A|muscular dystrophy, facioscapulohumeral, type 1A|facioscapulohumeral muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1|facioscapulohumeral muscular dystrophy 1|FMD|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|FRG1 facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|FSHD1|facioscapulohumeral muscular dystrophy 1A OMIM:158900|GARD:0009941|MESH:C536391|DOID:0111192 https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy owl:Class MONDO:0003718 biolink:NamedThing occlusion precerebral artery tmpak2llvmy_mondo_relaxed.owl occlusion and stenosis of multiple and bilateral precerebral arteries|occlusion and stenosis of precerebral artery ICD9:433|ICD9:433.9|ICD9:433.81|SCTID:28790007|DOID:5976|ICD9:433.80|UMLS:C0265090|ICD10:I65.9|ICD9:433.3 owl:Class CHEBI:33521 biolink:NamedThing metal atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. tmpak2llvmy_mondo_relaxed.owl elemental metal|elemental metals|metals|metal element|metal elements owl:Class MONDO:0018896 biolink:NamedThing thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. tmpak2llvmy_mondo_relaxed.owl Moschowitz disease|Moschcowitz's syndrome|Moschcowitz disease|TTP Orphanet:54057|MESH:D011697|SCTID:78129009|DOID:10772|NCIT:C78797|ICD10:M31.1|MedDRA:10043648|UMLS:C0034155 owl:Class MONDO:0045023 biolink:NamedThing acquired adrenogenital syndrome An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired adrenogenital syndrome SCTID:190512008|UMLS:C0237971 owl:Class MONDO:0018764 biolink:NamedThing microcephalic primordial dwarfism due to RTTN deficiency Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:468631 owl:Class PO:0025099 biolink:NamedThing embryo plant structure A plant structure (PO:0009011) that is part of an plant embryo (PO:0009009). tmpak2llvmy_mondo_relaxed.owl embryonic plant structure (exact)|estructura vegetal embriónica (Spanish, exact)|胚性植物構造 (Japanese, exact) PO_GIT:245|PO_GIT:339 Includes plant structures that only occur in embryos (such as suspensor) as well as plant structures that are part of an embryo when a plant is in the embryonic phase (such as embryonic radicle). rwalls 2010-11-05T01:36:24Z plant_anatomy owl:Class MONDO:0012007 biolink:NamedThing scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities tmpak2llvmy_mondo_relaxed.owl scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities|anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities MESH:C564262|UMLS:C1842315|OMIM:608281 owl:Class MONDO:0008345 biolink:NamedThing idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. tmpak2llvmy_mondo_relaxed.owl fibrosing alveolitis, cryptogenic|interstitial pneumonitis, usual|IPF|familial idiopathic pulmonary fibrosis|usual interstitial pneumonia|UIP|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrocystic pulmonary dysplasia|pulmonary fibrosis, idiopathic|Hamman-rich disease|CFA|fibrosing alveolitis GARD:0008609|EFO:0000768|SCTID:196125002|ICD10:J84.112|MedDRA:10021240|OMIM:178500|DOID:0050156|ICD9:516.31|MESH:D054990|NCIT:C35716|Orphanet:2032|ICD10:J84.1 https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis owl:Class MONDO:0015195 biolink:NamedThing atresia of urethra Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. tmpak2llvmy_mondo_relaxed.owl urethral atresia|atresia of urethra|atresia of urethra (disease) atresia of urethra (disease) SCTID:253902002|HP:0000068|Orphanet:105|MedDRA:10064895|ICD10:Q64.3 owl:Class ENVO:01000271 biolink:NamedThing clastic sedimentary rock Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017223 biolink:NamedThing Pelizaeus-Merzbacher disease, transitional form The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. tmpak2llvmy_mondo_relaxed.owl transitional PMD Orphanet:280224|ICD10:E75.2 owl:Class MONDO:0022236 biolink:NamedThing colpocephaly Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. tmpak2llvmy_mondo_relaxed.owl GARD:0010008|MESH:C535973|SCTID:253160006 MONDO:0022808 https://rarediseases.info.nih.gov/diseases/10008/colpocephaly owl:Class MONDO:0003197 biolink:NamedThing granular cell carcinoma An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. tmpak2llvmy_mondo_relaxed.owl granular cell carcinoma|granular cell adenocarcinoma|granular cell carcinoma (morphologic abnormality) NCIT:C3681|DOID:4903|UMLS:C0205644|ICDO:8320/3 owl:Class MONDO:0007993 biolink:NamedThing microgastria-limb reduction defect syndrome This syndrome is characterised by the association of microgastria with a limb reduction defect. tmpak2llvmy_mondo_relaxed.owl congenital microgastria and limb reduction defects|MLRD|microgastria-limb reduction defects association|microgastria limb reduction defect MESH:C537554|GARD:0003640|ICD10:Q87.8|OMIM:156810|Orphanet:2538|UMLS:C1834929 owl:Class UBERON:0010844 biolink:NamedThing clavicle pre-cartilage condensation A pre-cartilage condensation that has the potential to develop into a clavicle. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21576 biolink:NamedThing NHLRC1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002114 biolink:NamedThing CD38-positive unswitched memory B cell A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl CD38+ unswitched memory B cell|CD38-positive unswitched memory B-lymphocyte|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B-lymphocyte|CD38+ unswitched memory B-cell|CD38-positive unswitched memory B lymphocyte|CD38-positive unswitched memory B-cell cell owl:Class MONDO:0013025 biolink:NamedThing chromosome 6q24-q25 deletion syndrome 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. tmpak2llvmy_mondo_relaxed.owl monosomy 6q25|Del(6)(q25)|deletion 6q25|chromosome 6q25 microdeletion syndrome|6q25 microdeletion syndrome|del(6q25)|chromosome 6q24-q25 deletion syndrome UMLS:C4304527|Orphanet:251056|UMLS:C3150215|DOID:0060424|NCIT:C36470|OMIM:612863|GARD:0003764|ICD10:Q93.5|SCTID:719663005 owl:Class GO:0031503 biolink:NamedThing protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. tmpak2llvmy_mondo_relaxed.owl establishment and maintenance of protein complex localization|protein complex localisation|protein complex localization owl:Class MONDO:0003692 biolink:NamedThing adult malignant mesenchymoma A malignant mesenchymoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl malignant mesenchymoma|malignant mesenchymoma of adults|adult malignant mesenchymoma NCIT:C7947|UMLS:C0279548|DOID:5894 owl:Class UBERON:0004001 biolink:NamedThing olfactory bulb layer . tmpak2llvmy_mondo_relaxed.owl cytoarchitectural part of olfactory bulb owl:Class MONDO:0012334 biolink:NamedThing hereditary spastic paraplegia 29 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 29, autosomal dominant|spastic paraplegia 29|SPG29|hereditary spastic paraplegia type 29|autosomal dominant spastic paraplegia 29|autosomal dominant spastic paraplegia type 29 SCTID:733029008|GARD:0009729|Orphanet:101009|OMIM:609727|ICD10:G11.4|MESH:C536863|DOID:0110780|UMLS:C1857855 owl:Class MONDO:0019421 biolink:NamedThing X-linked intellectual disability, Seemanova type X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl SCTID:718897009|UMLS:CN227630|ICD10:Q87.8|Orphanet:85323 owl:Class MONDO:0007587 biolink:NamedThing external auditory canal atresia-vertical talus-hypertelorism syndrome tmpak2llvmy_mondo_relaxed.owl Rasmussen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|Rasmussen-Johnsen-Thomsen syndrome|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance|Rasmussen Johnsen Thomsen syndrome GARD:0004638|UMLS:C2930867|Orphanet:3023|OMIM:133705|ICD10:Q87.8 owl:Class MONDO:0018537 biolink:NamedThing squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. tmpak2llvmy_mondo_relaxed.owl squamous cell carcinoma of gallblader and EBT ICD10:C24.9|ICD10:C24.0|UMLS:CN237538|SCTID:766978002|ICD10:C24.1|ICD10:C24.8|ICD10:C23|Orphanet:424996 owl:Class MONDO:0054697 biolink:NamedThing immunodeficiency 11b with atopic dermatitis tmpak2llvmy_mondo_relaxed.owl IMD11B|immunodeficiency 11B with ATOPIC dermatitis|atopic dermatitis, elevated IgE, and eosinophilia OMIM:617638|UMLS:C4539957 owl:Class NCBITaxon:5500 biolink:NamedThing Coccidioides tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030361 biolink:NamedThing Aicardi-Goutieres syndrome 8 tmpak2llvmy_mondo_relaxed.owl AGS8|Aicardi-Goutieres syndrome 8 OMIM:619486 owl:Class MONDO:0005890 biolink:NamedThing osteitis fibrosa A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. tmpak2llvmy_mondo_relaxed.owl hyperparathyroid bone disease|Von Recklinghausen's disease of Bone|osteitis fibrosa cystica generalisata|Von Recklinghausen disease of Bone|osteitis fibrosa cystica|Von Recklinghausen's bone disease EFO:0007413|NCIT:C34875|UMLS:C0029405|SCTID:84727000|DOID:3341|MESH:D010002 owl:Class MONDO:0012375 biolink:NamedThing autosomal recessive nonsyndromic deafness 47 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. tmpak2llvmy_mondo_relaxed.owl DFNB47|autosomal recessive nonsyndromic deafness type 47|autosomal recessive deafness 47|deafness, neurosensory, autosomal recessive 47|deafness, autosomal recessive 47 OMIM:609946|UMLS:C1864964|GARD:0009935|DOID:0110504|ICD10:H90.3|MESH:C566498 owl:Class MONDO:0002368 biolink:NamedThing papillary serous cystadenocarcinoma A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpak2llvmy_mondo_relaxed.owl papillary serous cystadenocarcinoma|papillary serous carcinoma|serous surface papillary carcinoma (morphologic abnormality)|micropapillary serous carcinoma|papillary serous adenocarcinoma ICDO:8460/3|SCTID:716649003|NCIT:C8377|UMLS:C0334359|DOID:2632 owl:Class MONDO:0017638 biolink:NamedThing manganese poisoning Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) tmpak2llvmy_mondo_relaxed.owl manganese intoxication|Manganism MedDRA:10058951|EFO:1001808|Orphanet:306682|ICD9:503|ICD10:T57.2|MESH:D020149|SCTID:88687001 owl:Class NCIT:C16273 biolink:NamedThing Alcohol Consumption Consumption of liquids containing ethanol, including the behaviors associated with drinking the alcohol. tmpak2llvmy_mondo_relaxed.owl Alcohol Consumption owl:Class MONDO:0008775 biolink:NamedThing Amobarbital, deficient N-hydroxylation of tmpak2llvmy_mondo_relaxed.owl Amobarbital, deficient N-hydroxylation of OMIM:204800|MESH:C565959|UMLS:C1859816 owl:Class MONDO:0011195 biolink:NamedThing Usher syndrome type 1E A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Usher syndrome type IE|Usher syndrome, type 1E|USH1E|USHER syndrome, type IE UMLS:C1865865|GARD:0005439|OMIM:602097|DOID:0110833|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e owl:Class MONDO:0008161 biolink:NamedThing otodental syndrome Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. tmpak2llvmy_mondo_relaxed.owl otodental syndrome with coloboma|otodental dysplasia|otodental syndrome|oculootodental syndrome|chromosome 11q13 deletion syndrome|globodontia Orphanet:2791|ICD10:K00.2|SCTID:707310009|UMLS:C1833693|OMIM:166750|GARD:0004168 owl:Class HP:0002035 biolink:NamedThing Rectal prolapse Protrusion of the rectal mucous membrane through the anus. tmpak2llvmy_mondo_relaxed.owl Rectal prolapsed|Rectum protrudes through anus MSH:D012005|UMLS:C0034888|MEDDRA:10038077|SNOMEDCT_US:57773001 human_phenotype owl:Class MONDO:0009200 biolink:NamedThing eyebrow duplication-syndactyly syndrome Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl eyebrows, DUPLICATION of, with stretchable skin and syndactyly|eyebrows duplication of, with stretchable skin and syndactyly OMIM:227210|GARD:0002216|MESH:C536383|Orphanet:3172|UMLS:C1856896 owl:Class MONDO:0010113 biolink:NamedThing thalidomide susceptibility tmpak2llvmy_mondo_relaxed.owl thalidomide susceptibility OMIM:273600 owl:Class UBERON:0003508 biolink:NamedThing pedal digit blood vessel A blood vessel that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl blood vessel of digit of terminal segment of free lower limb|digitus pedis blood vessel|terminal segment of free lower limb digit blood vessel|toe blood vessel|blood vessel of digitus pedis|blood vessel of digit of foot|digit of foot blood vessel|blood vessel of toe|digit of terminal segment of free lower limb blood vessel|blood vessel of terminal segment of free lower limb digit|foot digit blood vessel|hind limb digit blood vessel|blood vessel of foot digit owl:Class FOODON:03400148 biolink:NamedThing milk or milk product (us cfr) Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0148 http://langual.org owl:Class FOODON:03400164 biolink:NamedThing dairy product (us cfr) Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0164 http://langual.org owl:Class UBERON:0007173 biolink:NamedThing lateral border of scapula The lateral border (or axillary border, or margin) is the thickest of the three borders of the scapula. It begins above at the lower margin of the glenoid cavity, and inclines obliquely downward and backward to the inferior angle. Immediately below the glenoid cavity is a rough impression, the infraglenoid tuberosity, about 2.5 cm. in length, which gives origin to the long head of the Triceps brachii; in front of this is a longitudinal groove, which extends as far as the lower third of this border, and affords origin to part of the Subscapularis. The inferior third is thin and sharp, and serves for the attachment of a few fibers of the Teres major behind, and of the Subscapularis in front. tmpak2llvmy_mondo_relaxed.owl axillary border of scapula|lateral border of scapula|margo lateralis (scapula)|lateral part of scapula|margo lateralis scapulae owl:Class NCBITaxon:33343 biolink:NamedThing Prosorrhyncha tmpak2llvmy_mondo_relaxed.owl Heteropterodea|bugs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7524 biolink:NamedThing Hemiptera tmpak2llvmy_mondo_relaxed.owl bugs PMID:7666451|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010695 biolink:NamedThing occipital hair, white lock of tmpak2llvmy_mondo_relaxed.owl occipital hair, white lock of OMIM:310900 owl:Class MONDO:0016702 biolink:NamedThing oligoastrocytoma A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) tmpak2llvmy_mondo_relaxed.owl glioma, mixed, benign|mixed oligo-astrocytoma|MOA|mixed oligoastrocytoma|mixed astrocytoma-oligodendroglioma|mixed oligodendroglioma-astrocytoma|oligoastrocytoma|mixed astrocytic-oligodendroglial neoplasm|WHO grade II mixed glioma|mixed astrocytic-oligodendroglial tumor MedDRA:10027744|ICD10:C71.9|DOID:7912|GARD:0009769|NCIT:C4050|SCTID:716647001|ONCOTREE:OAST|EFO:0000630|UMLS:C0280793|Orphanet:251656 https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma owl:Class MONDO:0044317 biolink:NamedThing premature ovarian failure 13 tmpak2llvmy_mondo_relaxed.owl POF13|premature ovarian failure 13 OMIM:617442|UMLS:C4479510 owl:Class MONDO:0010646 biolink:NamedThing macular dystrophy, X-linked tmpak2llvmy_mondo_relaxed.owl macular dystrophy, X-linked MESH:C564110|UMLS:C1839842|OMIM:309100 owl:Class MONDO:0015209 biolink:NamedThing non-syndromic gastroduodenal malformation A gastroduodenal malformation that is not part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl nonsyndromic gastroduodenal malformation|isolated gastroduodenal malformation Orphanet:108963 owl:Class MONDO:0011364 biolink:NamedThing autosomal recessive nonsyndromic deafness 16 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 16|deafness, autosomal recessive type 16|deafness, autosomal recessive 16|autosomal recessive nonsyndromic deafness 16|autosomal recessive nonsyndromic deafness type 16|autosomal recessive nonsyndromic deafness caused by mutation in STRC|DFNB16|STRC autosomal recessive nonsyndromic deafness OMIM:603720|DOID:0110471|UMLS:C1863561|ICD10:H90.3|MESH:C566339 owl:Class MONDO:0018289 biolink:NamedThing congenital disorder of glycosylation with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl CDG with dilated cardiomyopathy 2022-03-01 Orphanet:371176|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0011289 biolink:NamedThing apraxia of eyelid opening tmpak2llvmy_mondo_relaxed.owl apraxia of eyelid opening OMIM:603119 owl:Class HP:0012091 biolink:NamedThing Abnormality of pancreas physiology An anomaly of the function of the pancreas. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023048 peter 2012-08-20T09:17:10Z human_phenotype owl:Class MONDO:0012903 biolink:NamedThing autosomal recessive nonsyndromic deafness 45 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 45|deafness, autosomal recessive 45|autosomal recessive deafness 45|DFNB45 DOID:0110502|OMIM:612433|ICD10:H90.3 owl:Class MONDO:0014426 biolink:NamedThing nanophthalmos 4 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. tmpak2llvmy_mondo_relaxed.owl nanophthalmia caused by mutation in TMEM98|NNO4|nanophthalmos type 4|TMEM98 nanophthalmia|nanophthalmos 4|Nanophthalmia 4 OMIM:615972|UMLS:C4014848 owl:Class MONDO:0017188 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form Orphanet:276603|ICD10:E16.1 owl:Class MONDO:0001717 biolink:NamedThing posterior corneal pigmentation tmpak2llvmy_mondo_relaxed.owl posterior corneal pigmentations SCTID:267639001|DOID:13448|UMLS:C0155106|ICD10:H18.05|ICD9:371.13 owl:Class OBO:CHR_9606-chr3q13.31 biolink:NamedThing chr3q13.31 (Human) tmpak2llvmy_mondo_relaxed.owl 117600000 113700000 hg38 owl:Class MONDO:0022949 biolink:NamedThing defective apolipoprotein b-100 tmpak2llvmy_mondo_relaxed.owl GARD:0001720 https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100 owl:Class HGNC:2536 biolink:NamedThing CTSK tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098754 biolink:NamedThing detoxification Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041261 biolink:NamedThing disorder of acid-base balance tmpak2llvmy_mondo_relaxed.owl disorder of acid-base balance|disturbance of acid-base balance UMLS:C0268029|SCTID:26436007 owl:Class HP:0002514 biolink:NamedThing Cerebral calcification The presence of calcium deposition within brain structures. tmpak2llvmy_mondo_relaxed.owl Brain calcification|Intracranial calcifications|Abnormal deposits of calcium in the brain|Intracerebral calcifications|Intracranial calcification UMLS:C0270685|SNOMEDCT_US:17944005 This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. HP:0002502|HP:0005806|HP:0006848 human_phenotype owl:Class MONDO:0009701 biolink:NamedThing myopathy, granulovacuolar lobular, with electrical myotonia tmpak2llvmy_mondo_relaxed.owl myopathy, granulovacuolar lobular, with electrical myotonia UMLS:C1850745|OMIM:254950|MESH:C564974 owl:Class MONDO:0100204 biolink:NamedThing parainfluenza virus type 2 infectious disease A disease caused by infection with parainfluenza virus type 2. tmpak2llvmy_mondo_relaxed.owl human rubulavirus 2 infectious disease|infection caused by human parainfluenza virus 2|infection due to human parainfluenza virus 2 OMOP:4289924 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0001965 biolink:NamedThing sclerosing keratitis tmpak2llvmy_mondo_relaxed.owl sclerokeratitis SCTID:27886001|UMLS:C0155090|ICD9:370.54|ICD10:H16.33|DOID:14444 owl:Class MONDO:0015352 biolink:NamedThing distal hereditary motor neuropathy type 2 tmpak2llvmy_mondo_relaxed.owl dHMN2|dSMA2|distal spinal muscular atrophy type 2 Orphanet:139525|ICD10:G12.2|MESH:C580044|DOID:0111206 owl:Class MONDO:0012753 biolink:NamedThing amyotrophic lateral sclerosis type 9 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis type 9|ANG amyotrophic lateral sclerosis|ALS9|amyotrophic lateral sclerosis 9|amyotrophic lateral sclerosis caused by mutation in ANG UMLS:C2678468|MESH:C567499|DOID:0060200|GARD:0010498|OMIM:611895 https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9 owl:Class MONDO:0014679 biolink:NamedThing polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis tmpak2llvmy_mondo_relaxed.owl polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis|PMGYCHA UMLS:C4225295|OMIM:616531 owl:Class GO:0010941 biolink:NamedThing regulation of cell death Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018439 biolink:NamedThing eosinophilic colitis Inflammation of the colon that is characterized by eosinic infiltration. tmpak2llvmy_mondo_relaxed.owl NCIT:C27053|ICD9:558.42|ICD10:K52.8|SCTID:29120000|UMLS:C0267448|ICD10:K52.82|Orphanet:402035 owl:Class MONDO:0019399 biolink:NamedThing Isaac syndrome Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. tmpak2llvmy_mondo_relaxed.owl Isaacs' syndrome|neuromyotonia|Quantal squander syndrome|peripheral nerve hyperexcitability|continuous muscle fiber activity syndrome|Isaac's-Merten's syndrome|Isaac-Mertens syndrome|acquired neuromyotonia SCTID:305719002|Orphanet:84142|GARD:0006793|ICD10:G71.1|UMLS:CN206101|UMLS:C0751919 owl:Class MONDO:0001582 biolink:NamedThing cicatricial ectropion tmpak2llvmy_mondo_relaxed.owl UMLS:C0155196|DOID:12782|SCTID:28914006|ICD9:374.14 owl:Class MONDO:0002465 biolink:NamedThing bronchiolitis Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. tmpak2llvmy_mondo_relaxed.owl RSV bronchiolitis|bronchiolitis (disease)|bronchiolitis|viral bronchiolitis|wheezy bronchitis bronchiolitis (disease) HP:0011950|DOID:2942|MESH:D001988|ICD9:466.19|NCIT:C39658|SCTID:4120002|UMLS:C0006271 owl:Class HGNC:1787 biolink:NamedThing CDKN2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004454 biolink:NamedThing cellular congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. tmpak2llvmy_mondo_relaxed.owl cellular congenital mesoblastic nephroma UMLS:C1516474|NCIT:C39815|DOID:8082 owl:Class MONDO:0003319 biolink:NamedThing scrotum neoplasm A benign or malignant neoplasm that affects the scrotum. tmpak2llvmy_mondo_relaxed.owl neoplasm of the scrotum|scrotum neoplasm (disease)|scrotal neoplasm|scrotal Ca|scrotal tumor|malignant tumor of scrotum|tumor of the scrotum|neoplasm of scrotum|malignant scrotal neoplasm|malignant tumour of scrotum|scrotum tumor|tumor of scrotum DOID:518|ICD10:C63.2|UMLS:C0341790|SCTID:126905005|ICD9:187.7|ICD9:239.5|NCIT:C4380 owl:Class MONDO:0019002 biolink:NamedThing Lhermitte-Duclos disease Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. tmpak2llvmy_mondo_relaxed.owl LDD|dysplastic gangliocytoma of cerebellum|dysplastic gangliocytoma of the cerebellum|dysplastic cerebellar gangliocytoma GARD:0006901|Orphanet:65285|UMLS:C0391826|ICD10:Q04.8|NCIT:C8419|ICDO:9493/0 owl:Class MONDO:0006688 biolink:NamedThing byssinosis An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. tmpak2llvmy_mondo_relaxed.owl pneumoconiosis from cotton dust|flax-dressers' disease|stripper's asthma|cotton dust pneumoconiosis|cotton mill fever|Monday morning fever MESH:D002095|ICD10:J66.0|GARD:0005976|DOID:10323|UMLS:C0006542|SCTID:13151001|NCIT:C84605|MedDRA:10006822|EFO:1000851|ICD9:504|UMLS:C2242894 https://rarediseases.info.nih.gov/diseases/5976/byssinosis owl:Class HGNC:26927 biolink:NamedThing FOXRED1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006450 biolink:NamedThing therapy-related myeloid neoplasm Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. tmpak2llvmy_mondo_relaxed.owl therapy-related AML and MDS|therapy-related myeloid neoplasm|TMN|therapy-related myeloid neoplasms|therapy-related acute myeloid leukemia and myelodysplastic syndrome|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related EFO:1000575|ONCOTREE:TMN|ICDO:9920/3|NCIT:C27912 owl:Class HP:0000534 biolink:NamedThing Abnormal eyebrow morphology An abnormality of the eyebrow. tmpak2llvmy_mondo_relaxed.owl Abnormality of the eyebrow UMLS:C4011556 human_phenotype owl:Class MONDO:0005233 biolink:NamedThing non-small cell lung carcinoma A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. tmpak2llvmy_mondo_relaxed.owl non-small cell carcinoma of lung|NSCLC|NSCLC - non-small cell lung cancer|non-small cell lung cancer|non-small cell cancer of lung|non-small cell carcinoma of the lung|non-small cell lung carcinoma (disease)|non-small cell cancer of the lung|non-small cell lung carcinoma non-small cell lung carcinoma (disease) EFO:0003060|ONCOTREE:NSCLC|NCIT:C2926|ICD10:C34|MESH:D002289|DOID:3908|UMLS:C0007131|HP:0030358|SCTID:254637007|KEGG:05223 owl:Class HP:0010524 biolink:NamedThing Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:42341009|MSH:D000377|UMLS:C0001816 peter 2009-09-20T11:33:03Z human_phenotype owl:Class MONDO:0014182 biolink:NamedThing autosomal recessive nonsyndromic deafness 88 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 88|ELMOD3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 88|autosomal recessive nonsyndromic deafness type 88|deafness, autosomal recessive 88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|DFNB88 UMLS:C2829267|DOID:0110533|OMIM:615429|ICD10:H90.3 owl:Class HGNC:4887 biolink:NamedThing HJV tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35222 biolink:NamedThing inhibitor A substance that diminishes the rate of a chemical reaction. tmpak2llvmy_mondo_relaxed.owl inhibitor|inhibiteur|inhibidor|inhibitors owl:Class ECTO:0000689 biolink:NamedThing exposure to P450 inhibitor An exposure to P450 inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to P450 inhibitor owl:Class HGNC:7133 biolink:NamedThing KMT2D tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0051464 biolink:NamedThing positive regulation of cortisol secretion Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. tmpak2llvmy_mondo_relaxed.owl up regulation of cortisol secretion|activation of cortisol secretion|stimulation of cortisol secretion|upregulation of cortisol secretion|up-regulation of cortisol secretion owl:Class MONDO:0014337 biolink:NamedThing complex cortical dysplasia with other brain malformations 5 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, Complex, with Other brain malformations type 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|TUBB2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 5|complex cortical dysplasia with other brain malformations type 5|CDCBM5 DOID:0090135|OMIM:615763|UMLS:C3810407 owl:Class MONDO:0019979 biolink:NamedThing renal hypoplasia, unilateral Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. tmpak2llvmy_mondo_relaxed.owl ICD10:Q60.3|Orphanet:97361 owl:Class MONDO:0012635 biolink:NamedThing COG8-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. tmpak2llvmy_mondo_relaxed.owl congenital disorder of glycosylation, type IIh|congenital disorder of glycosylation type IIh|congenital disorder of glycosylation type 2h|CDG syndrome type IIh|COG8-CDG|carbohydrate deficient glycoprotein syndrome type IIh|CDG IIh|CDG-IIh|CDG2H|COG8-CDG (CDG-IIh) UMLS:C1970021|DOID:0070260|GARD:0012411|OMIM:611182|ICD10:E77.8|Orphanet:95428|MESH:C566987|SCTID:717774004 owl:Class MONDO:0017221 biolink:NamedThing Pelizaeus-Merzbacher disease, connatal form The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. tmpak2llvmy_mondo_relaxed.owl severe PMD|Pelizaeus-Merzbacher disease type II|connatal PMD UMLS:CN202703|Orphanet:280210|ICD10:E75.2 owl:Class MONDO:0004560 biolink:NamedThing follicular infundibulum tumor tmpak2llvmy_mondo_relaxed.owl basal cell hamartoma with follicular differentiation|tumor of the follicular infundibulum|neoplasm of the follicular infundibulum|follicular infundibulum neoplasm|tumor of follicular infundibulum UMLS:C0346006|NCIT:C4469|SCTID:254694002|DOID:8426|ICD9:239.2 owl:Class MONDO:0005491 biolink:NamedThing Chagas cardiomyopathy A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly. tmpak2llvmy_mondo_relaxed.owl Trypanosoma cruzi caused cardiomyopathy|Trypanosoma cruzi cardiomyopathy MESH:D002598|ICD9:086.0|SCTID:998008|EFO:0005529 owl:Class HGNC:16187 biolink:NamedThing SLC52A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043455 biolink:NamedThing humoral hypercalcemia of malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. tmpak2llvmy_mondo_relaxed.owl humoral hypercalcemia of malignancy|malignant hypercalcemia|malignancy associated hypercalcemia|hypercalcemia of malignancy|mahc|hhm UMLS:C0149911|SCTID:47709007|MESH:C562390|NCIT:C3496 owl:Class MONDO:0041114 biolink:NamedThing peripheral ischemia Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. tmpak2llvmy_mondo_relaxed.owl peripheral ischemic vascular disease|peripheral ischemia SCTID:233958001 owl:Class MONDO:0006590 biolink:NamedThing palmoplantar keratosis A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. tmpak2llvmy_mondo_relaxed.owl keratosis palmaris et plantaris|keratoderma, palmoplantar|palmoplantar keratoderma GARD:0008167|DOID:3390|SCTID:706885006|NCIT:C34748|ICD10:L85.2|EFO:1000745|ICD9:757.39 owl:Class MONDO:0030071 biolink:NamedThing retinitis pigmentosa 89 tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 89|RETINITIS PIGMENTOSA 89|RP89 OMIM:618955 owl:Class MONDO:0015441 biolink:NamedThing ring chromosome 7 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). tmpak2llvmy_mondo_relaxed.owl R7|Ring chromosome 7 syndrome|Ring 7|chromosome 7 ring|Ring chromosome type 7|rose cluster 7 SCTID:765489006|GARD:0001345|Orphanet:1449|NCIT:C121986|MESH:C537813|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 owl:Class MONDO:0002781 biolink:NamedThing glossopharyngeal nerve paralysis Paralysis of the glossopharyngeal nerve. tmpak2llvmy_mondo_relaxed.owl glossopharyngeal nerve cranial nerve palsy|cranial nerve palsy of glossopharyngeal nerve DOID:3816|NCIT:C27335|UMLS:C0919940 owl:Class HGNC:11950 biolink:NamedThing TNNT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008424 biolink:NamedThing sella turcica, bridged tmpak2llvmy_mondo_relaxed.owl sella turcica, bridged OMIM:182200|MESH:C566689 owl:Class HP:0000132 biolink:NamedThing Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. tmpak2llvmy_mondo_relaxed.owl Abnormally heavy bleeding during menstruation|Hypermenorrhea|Abnormally heavy periods SNOMEDCT_US:386692008|UMLS:C0025323|MSH:D008595 HP:0100609 human_phenotype owl:Class HP:0000140 biolink:NamedThing Abnormality of the menstrual cycle An abnormality of the ovulation cycle. tmpak2llvmy_mondo_relaxed.owl Abnormality of the menstrual cycle|Menstrual abnormalities UMLS:C3549779|UMLS:C4025888 human_phenotype owl:Class GO:0010700 biolink:NamedThing negative regulation of norepinephrine secretion Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011021 biolink:NamedThing neuronal intestinal dysplasia, type B tmpak2llvmy_mondo_relaxed.owl neuronal intestinal dysplasia, type B|NID B UMLS:C1832589|OMIM:601223 owl:Class MONDO:0008806 biolink:NamedThing Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. tmpak2llvmy_mondo_relaxed.owl Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|APHALANGY with hemivertebrae|Johnson-Munson syndrome|Johnson Munson syndrome OMIM:207620|Orphanet:1112|UMLS:C1859754|MESH:C535881|SCTID:733118006|ICD10:Q87.8|GARD:0003051 owl:Class MONDO:0023273 biolink:NamedThing pigmented dermatofibrosarcoma protuberans A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells. tmpak2llvmy_mondo_relaxed.owl Pigmented dermatofibrosarcoma protuberans of skin|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Pigmented DFSPs|Pigmented Dermatofibrosarcoma Protuberans|Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|Pigmented DFSP|Bednar tumor|DFSP, Pigmented|Pigmented dermatofibrosarcoma protuberans|Dermatofibrosarcoma Protuberans, Pigmented|Bednar Tumor|Dermatofibrosarcoma Protuberan, Pigmented|Bednar's Tumor|Tumor, Bednar|Protuberan, Pigmented Dermatofibrosarcoma|bednar tumor|Pigmented dermatofibrosarcoma|DFSPs, Pigmented|Bednars Tumor|Protuberans, Pigmented Dermatofibrosarcoma|pigmented dermatofibrosarcoma protuberans|Pigmented Dermatofibrosarcoma Protuberan|Tumor, Bednar's|Pigmented storiform neurofibroma NCIT:C9430|UMLS:C0334464|SCTID:398670003|GARD:0009624 owl:Class NCBITaxon:672 biolink:NamedThing Vibrio vulnificus tmpak2llvmy_mondo_relaxed.owl Beneckea vulnifica PMID:1015934|PMID:8186099|GC_ID:11 ncbi_taxonomy owl:Class CL:0002029 biolink:NamedThing Fc-epsilon RIalpha-low mast cell progenitor A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-04-27T01:22:19Z cell owl:Class CL:0000831 biolink:NamedThing mast cell progenitor A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. tmpak2llvmy_mondo_relaxed.owl colony forming unit mast cell|MCP|CFU-MC|CFU-Mast MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. cell owl:Class MONDO:0017676 biolink:NamedThing marginal papular palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl marginal papular palmoplantar hyperkeratosis Orphanet:307995|ICD10:Q82.8 owl:Class CHEBI:35293 biolink:NamedThing fused compound tmpak2llvmy_mondo_relaxed.owl polycyclic fused-ring compounds|fused-ring polycyclic compound|fused compounds|fused-ring polycyclic compounds|fused polycyclic compounds owl:Class CHEBI:33635 biolink:NamedThing polycyclic compound tmpak2llvmy_mondo_relaxed.owl polycyclic compounds owl:Class MONDO:0015100 biolink:NamedThing aregenerative anemia tmpak2llvmy_mondo_relaxed.owl ICD10:D46.7|Orphanet:101096|SCTID:89112009|MedDRA:10054329|UMLS:C0553669 owl:Class ENVO:01000640 biolink:NamedThing planetary mantle A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density. tmpak2llvmy_mondo_relaxed.owl mantle owl:Class GO:0045780 biolink:NamedThing positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption. tmpak2llvmy_mondo_relaxed.owl up regulation of bone resorption|stimulation of bone resorption|activation of bone resorption|up-regulation of bone resorption|upregulation of bone resorption owl:Class MONDO:0044747 biolink:NamedThing human anaplasmosis An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. tmpak2llvmy_mondo_relaxed.owl Anaplasmoses|anaplasmosis|human anaplasmosis SCTID:427481004|NCIT:C128425|ICD9:082.49 owl:Class MONDO:0011893 biolink:NamedThing autosomal dominant nonsyndromic deafness 52 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 52|DFNA52|autosomal dominant nonsyndromic deafness type 52|deafness, autosomal dominant 42|autosomal dominant deafness 52 ICD10:H90.3|DOID:0110578|MESH:C564348|UMLS:C1843232|OMIM:607683 owl:Class MONDO:0044207 biolink:NamedThing specific granule deficiency 1 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. tmpak2llvmy_mondo_relaxed.owl neutrophil lactoferrin deficiency|lactoferrin-deficient neutrophils|CEBPE specific granule deficiency|specific granule deficiency 1|SGD1|specific granule deficiency caused by mutation in CEBPE OMIM:245480 owl:Class MONDO:0005891 biolink:NamedThing ostertagiasis A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. tmpak2llvmy_mondo_relaxed.owl UMLS:C0029471|EFO:0007414|MESH:D010029|DOID:3985 owl:Class MONDO:0013271 biolink:NamedThing frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome tmpak2llvmy_mondo_relaxed.owl FND3|frontonasal dysplasia type 3|frontonasal dysplasia 3|ALX1-related frontonasal dysplasia Orphanet:306542|UMLS:C3150706|OMIM:613456|GARD:0012640 https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome owl:Class GO:0140242 biolink:NamedThing translation at postsynapse Translation that occurs at the postsynapse. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021020 biolink:NamedThing Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). tmpak2llvmy_mondo_relaxed.owl UGT deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|hyperbilirubinemia, Crigler-Najjar type 1|Crigler-Najjar syndrome, type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|bilirubin-UGT deficiency type 1|Crigler-Najjar syndrome, type I|Crigler Najjar syndrome, type 1 GARD:0000047|ICD10:E80.5|SCTID:8933000|OMIM:218800|Orphanet:79234|MedDRA:10057034 https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 owl:Class MONDO:0004260 biolink:NamedThing peptic ulcer perforation Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. tmpak2llvmy_mondo_relaxed.owl acute peptic ulcer with perforation|perforated peptic ulcer|peptic ulcer with perforation SCTID:79118000|EFO:1001389|MESH:D010439|UMLS:C0267291|DOID:752|UMLS:C0030925 owl:Class HP:0004313 biolink:NamedThing Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. tmpak2llvmy_mondo_relaxed.owl Decreased antibody level in blood|Immunoglobulin deficiency|Reduced immunoglobulin levels|Hypogammaglobulinemia|Decreased serum immunoglobulin|Decreased immunoglobulin level UMLS:C4048270|SNOMEDCT_US:119250001|UMLS:C0086438|MSH:D000361 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2008-02-20T03:34:00Z HP:0010703 human_phenotype owl:Class MONDO:0001355 biolink:NamedThing ocular siderosis A hemosiderosis that involves the camera-type eye. tmpak2llvmy_mondo_relaxed.owl siderosis bulbi|camera-type eye hemosiderosis|siderosis of globe|siderosis of eye|hemosiderosis of camera-type eye ICD9:360.23|SCTID:25277000|ICD10:H44.32|UMLS:C0271001|DOID:11754 owl:Class MONDO:0009389 biolink:NamedThing hyperlysinemia due to defect in lysine transport into mitochondria tmpak2llvmy_mondo_relaxed.owl hyperlysinemia due to defect in lysine TRANSPORT into mitochondria UMLS:C1855927|MESH:C565499|OMIM:238710 owl:Class MONDO:0016376 biolink:NamedThing confetti-like macular atrophy tmpak2llvmy_mondo_relaxed.owl ICD10:L90.8|Orphanet:221142 owl:Class UBERON:0010070 biolink:NamedThing intermediate layer of tympanic membrane The intermediate fibrous layer of the tympanic membrane. tmpak2llvmy_mondo_relaxed.owl fibrous layer of tympanic membrane|tympanic endothelium|fibrous stratum of tympanic membrane|connective tissue layer of tympanic membrane|intermediate fibrous layer of tympanic membrane owl:Class MONDO:0040501 biolink:NamedThing ehlers-danlos syndrome, arthrochalasia type, 2 tmpak2llvmy_mondo_relaxed.owl EDSARTH2|Ehlers-Danlos syndrome, arthrochalasia type, 2|EDS 7B|EDS VIIB|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant OMIM:617821 owl:Class MONDO:0009536 biolink:NamedThing chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation tmpak2llvmy_mondo_relaxed.owl lymphoblastic transformation, intrinsic defect type 1N|lymphoblastic transformation, intrinsic defect IN OMIM:247450|MESH:C565431|UMLS:C1855474 owl:Class MONDO:0016614 biolink:NamedThing autosomal recessive ataxia due to PEX10 deficiency tmpak2llvmy_mondo_relaxed.owl mild peroxismal disorder due to PEX10 deficiency UMLS:CN201819|ICD10:G11.8|Orphanet:247815 Editor note: TODO add gene owl:Class MONDO:0003477 biolink:NamedThing brain stem ependymoma An ependymoma that arises from the brain stem. tmpak2llvmy_mondo_relaxed.owl ependymoma of brainstem|ependymoma of brain stem|ependymoma of the brainstem|brainstem ependymoma|brain stem ependymoma|ependymoma of the brain stem NCIT:C5098|DOID:5508|UMLS:C1332609 owl:Class MONDO:0007769 biolink:NamedThing hyperpigmentation of eyelid Over-production of pigment in the eyelid. tmpak2llvmy_mondo_relaxed.owl hyperpigmentation of eyelids|dyspigmentation of eyelid UMLS:C0155211|SCTID:41115008|ICD10:H02.71|EFO:1000711|MESH:C562400|ICD9:374.52|OMIM:145100|DOID:10122 owl:Class MONDO:0002042 biolink:NamedThing mechanical ectropion An ectropion with a mechanical etiology. tmpak2llvmy_mondo_relaxed.owl ICD9:374.12|UMLS:C0155194|DOID:1569|ICD10:H02.121-129|SCTID:45020000 owl:Class MONDO:0006383 biolink:NamedThing primary cutaneous diffuse large B-cell lymphoma, Leg type An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required. tmpak2llvmy_mondo_relaxed.owl primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT EFO:1000490|ICDO:9680/3|Orphanet:178544|NCIT:C45194|ICD10:C83.3|UMLS:C1709656 owl:Class UBERON:0005808 biolink:NamedThing bone tissue of long bone A bone tissue that is part of a long bone. tmpak2llvmy_mondo_relaxed.owl osseous tissue of long bone owl:Class MONDO:0007849 biolink:NamedThing keratitis fugax hereditaria tmpak2llvmy_mondo_relaxed.owl keratitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria|Keratoendotheliitis fugax hereditaria|KEFH OMIM:148200|UMLS:C1835697|MESH:C563650 owl:Class MONDO:0010736 biolink:NamedThing split hand-foot malformation 2 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26. tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation 2|SHSF2|split hand foot anomaly - X-linked|SHFM2|split hand/foot malformation X-linked|SHFD2|split hand-foot malformation type 2|split-hand/split-foot anomaly, X-linked|split hand foot deformity 2|split-hand/foot deformity 2 MESH:C564056|GARD:0004968|DOID:0090027|OMIM:313350|ICD10:Q71.6 owl:Class UBERON:0002618 biolink:NamedThing root of trochlear nerve tmpak2llvmy_mondo_relaxed.owl central part of trochlear nerve|trochlear nerve root|trochlear nerve fibers|4nf|trochlear nerve tract|trochlear nerve or its root|fibrae nervi trochlearis|trochlear nerve/root owl:Class MONDO:0005920 biolink:NamedThing Plasmodium falciparum malaria Malaria resulting from infection by Plasmodium falciparum. tmpak2llvmy_mondo_relaxed.owl falciparum malaria [malignant tertian]|falciparum malaria|malignant tertian fever|Plasmodium falciparum malaria, unspecified|malignant tertian fever (finding)|malaria fever, subtertian EFO:0007444|ICD9:084.0|ICD10:B50.9|UMLS:C0024535|MESH:D016778|ICD9:084.9|ICD10:B50|NCIT:C34798|DOID:14067|SCTID:62676009 owl:Class NCBITaxon:727 biolink:NamedThing Haemophilus influenzae tmpak2llvmy_mondo_relaxed.owl Bacterium influenzae|Mycobacterium influenzae|Influenza-bacillus|Haemophilus meningitidis|Coccobacillus pfeifferi GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:693660 biolink:NamedThing unclassified Primate lentivirus group tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11652 biolink:NamedThing Primate lentivirus group tmpak2llvmy_mondo_relaxed.owl Primate immunodeficiency viruses GC_ID:1 ncbi_taxonomy owl:Class CL:0000322 biolink:NamedThing pneumocyte An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. tmpak2llvmy_mondo_relaxed.owl alveolar epithelial cell|pneumonocyte BTO:0000395|CALOHA:TS-2168|FMA:62499 cell owl:Class NCBITaxon:29120 biolink:NamedThing Oligoryzomys tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007942 biolink:NamedThing Mammastatin tmpak2llvmy_mondo_relaxed.owl Mammastatin OMIM:154370 owl:Class NCBITaxon:162997 biolink:NamedThing Culex annulirostris tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:506 biolink:NamedThing Alcaligenaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011540 biolink:NamedThing spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 14|SCA14|spinocerebellar ataxia type 14 ICD10:G11.2|MESH:C537196|SCTID:719210007|GARD:0009867|OMIM:605361|UMLS:C4304883|Orphanet:98763|UMLS:C1854369|DOID:0050964 owl:Class HP:0001735 biolink:NamedThing Acute pancreatitis A acute form of pancreatitis. tmpak2llvmy_mondo_relaxed.owl Acute pancreatic inflammation|Pancreatitis, acute SNOMEDCT_US:197456007|UMLS:C0001339 HP:0004512 human_phenotype owl:Class HP:0001733 biolink:NamedThing Pancreatitis The presence of inflammation in the pancreas. tmpak2llvmy_mondo_relaxed.owl Pancreatic inflammation SNOMEDCT_US:75694006|UMLS:C0030305|MSH:D010195 human_phenotype owl:Class MONDO:0001492 biolink:NamedThing kyphoscoliotic heart disease tmpak2llvmy_mondo_relaxed.owl UMLS:C0152102|ICD9:416.1|DOID:12325|SCTID:45650007|ICD10:I27.1 owl:Class MONDO:0001493 biolink:NamedThing chronic pulmonary heart disease Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. tmpak2llvmy_mondo_relaxed.owl Cor pulmonale SCTID:87837008|NCIT:C34478|ICD9:416.8|ICD9:416.9|DOID:12326|UMLS:C0238074 owl:Class NCBITaxon:544448 biolink:NamedThing Tenericutes tmpak2llvmy_mondo_relaxed.owl Mollicutota|Mollicutaeota PMID:26654112|GC_ID:11|PMID:29458499 ncbi_taxonomy owl:Class NCBITaxon:1783272 biolink:NamedThing Terrabacteria group tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:23851394|PMID:18988685 ncbi_taxonomy owl:Class CL:1000453 biolink:NamedThing epithelial cell of intermediate tubule An epithelial cell that is part of the intermediate tubule. tmpak2llvmy_mondo_relaxed.owl FMA:70980 cell owl:Class MONDO:0018420 biolink:NamedThing autosomal recessive spastic paraplegia type 68 tmpak2llvmy_mondo_relaxed.owl SPG68 ICD10:G11.4|UMLS:CN226127|Orphanet:401825 owl:Class MONDO:0006435 biolink:NamedThing submandibular gland adenocarcinoma An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of submandibular gland|submandibular gland adenocarcinoma|adenocarcinoma of the submandibular gland EFO:1000554|NCIT:C5940|UMLS:C1336521 owl:Class MONDO:0004724 biolink:NamedThing submandibular gland cancer A malignant neoplasm involving the submandibular gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of the submandibular gland|submandibular gland carcinoma|malignant neoplasm of submaxillary gland|malignant neoplasm of submandibular gland|cancer of submandibular gland|malignant tumor of submandibular gland|submandibular gland cancer|malignant tumor of the submandibular gland|malignant submandibular gland neoplasm|carcinoma of submandibular gland SCTID:363380002|ICD10:C08.0|DOID:9173|ICD9:142.1|UMLS:C0153360|NCIT:C8396 owl:Class MONDO:0016554 biolink:NamedThing neonatal iodine exposure Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. tmpak2llvmy_mondo_relaxed.owl iodine antenatal exposure GARD:0003025|Orphanet:238688|ICD10:P72.2|UMLS:CN226956 owl:Class NCBITaxon:8492 biolink:NamedThing Archosauria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013355 biolink:NamedThing congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. tmpak2llvmy_mondo_relaxed.owl anemia, congenital dyserythropoietic, type 4|CDA due to KLF1 mutation|CDA type IV|CDAN4|CDA type 4|congenital dyserythropoietic anemia due to KLF1 mutation|CDA IV|congenital dyserythropoietic anemia type 4|anemia, congenital dyserythropoietic, type IV|CDA, type 4 Orphanet:293825|DOID:0111400|OMIM:613673|UMLS:C3150926|ICD10:D64.4|SCTID:719453009 owl:Class MONDO:0016200 biolink:NamedThing qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - tmpak2llvmy_mondo_relaxed.owl qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type - Orphanet:209203 owl:Class CL:2000062 biolink:NamedThing placental villus capillary endothelial cell Any capillary endothelial cell that is part of a placenta. tmpak2llvmy_mondo_relaxed.owl http://www.ncbi.nlm.nih.gov/books/NBK53245/ TermGenie 2014-10-07T17:55:56Z cell owl:Class GO:0032218 biolink:NamedThing riboflavin transport The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001691 biolink:NamedThing laryngeal cartilage cancer A malignant neoplasm involving the laryngeal cartilage. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of laryngeal cartilages|malignant tumor of laryngeal cartilage|laryngeal cartilage cancer|malignant neoplasm of laryngeal cartilage|malignant laryngeal cartilage neoplasm|cancer of laryngeal cartilage DOID:13348|ICD10:C32.3|SCTID:363431006|UMLS:C0153486|ICD9:161.3 owl:Class MONDO:0004368 biolink:NamedThing sphenoorbital meningioma A meningioma that affects the sphenoorbital region. tmpak2llvmy_mondo_relaxed.owl UMLS:C1336040|NCIT:C5285|DOID:7819 owl:Class CL:0002264 biolink:NamedThing type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. tmpak2llvmy_mondo_relaxed.owl FMA:83411 tmeehan 2010-09-10T10:54:42Z cell owl:Class MONDO:0005021 biolink:NamedThing dilated cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. tmpak2llvmy_mondo_relaxed.owl congestive cardiomyopathy|idiopathic dilation cardiomyopathy|dilated cardiomyopathy|primary dilated cardiomyopathy|familial dilated cardiomyopathy HP:0001644|MESH:D002311|MedDRA:10056370|KEGG:05414|SCTID:195021004|ICD9:425.4|EFO:0000407|ICD10:I42.0|Orphanet:217604|MP:0002795|UMLS:C0007193|DOID:12930|NCIT:C84673 owl:Class MONDO:0032675 biolink:NamedThing myasthenic syndrome, congenital, 25, presynaptic tmpak2llvmy_mondo_relaxed.owl MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC|CMS25 OMIM:618323 owl:Class MONDO:0013449 biolink:NamedThing Leber congenital amaurosis 7 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis 7|Leber congenital amaurosis type 7|CRX Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRX|LCA7 OMIM:613829|UMLS:C3151192|ICD10:H35.5|GARD:0010880|DOID:0110333 https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7 owl:Class MONDO:0019158 biolink:NamedThing tropical endomyocardial fibrosis Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. tmpak2llvmy_mondo_relaxed.owl TEMF|Davies disease ICD10:I42.3|SCTID:715626008|Orphanet:75565|UMLS:C2882252|UMLS:CN205710 owl:Class MONDO:0015376 biolink:NamedThing first branchial cleft anomaly tmpak2llvmy_mondo_relaxed.owl first branchial cleft fistula|first branchial cleft cyst Orphanet:141013|ICD10:Q18.0|SCTID:73371000119103 owl:Class NCIT:C36278 biolink:NamedThing Finding by Site or System tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6621 biolink:NamedThing LIPE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005736 biolink:NamedThing eastern equine encephalitis Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. tmpak2llvmy_mondo_relaxed.owl Neuroinvasive Eastern equine encephalitis virus infection|Eastern equine encephalomyelitis|EEE MedDRA:10014587|DOID:10841|Orphanet:83594|MESH:D020242|ICD10:A83.2|UMLS:C0153065|GARD:0010821|EFO:0007242|ICD9:062.2 https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis owl:Class HGNC:43 biolink:NamedThing TAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25302 biolink:NamedThing COQ9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012022 biolink:NamedThing orofacial cleft 4 tmpak2llvmy_mondo_relaxed.owl orofacial cleft 4|cleft lip with or without cleft palate, nonsyndromic, 4|OFC4 OMIM:608371|DOID:0080398|MESH:C564251|UMLS:C1842143 owl:Class HGNC:4573 biolink:NamedThing GRIA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011016 biolink:NamedThing type 1 diabetes mellitus 11 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. tmpak2llvmy_mondo_relaxed.owl IDDM11|diabetes mellitus, insulin-dependent, 11|insulin-dependent diabetes mellitus 11 UMLS:C1832605|ICD10:E10|OMIM:601208|DOID:0110750|MESH:C563371 owl:Class MONDO:0017819 biolink:NamedThing atypical dentin dysplasia due to SMOC2 deficiency tmpak2llvmy_mondo_relaxed.owl dentin dysplasia type 1 with microdontia and shape anomalies UMLS:CN203789|Orphanet:314721|ICD10:K00.5 owl:Class MONDO:0000541 biolink:NamedThing jejunal adenocarcinoma A adenocarcinoma that involves the jejunum. tmpak2llvmy_mondo_relaxed.owl jejunal adenocarcinoma|jejunum adenocarcinoma|jejunal adenocarcinoma (disease) jejunal adenocarcinoma (disease) DOID:0050926|HP:0030411|UMLS:C4072935 owl:Class MONDO:0005121 biolink:NamedThing Enterococcus faecalis infection A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. tmpak2llvmy_mondo_relaxed.owl Enterococcus faecalis disease or disorder|Enterococcus faecalis caused disease or disorder|Enterococcus faecalis infectious disease EFO:0000780 owl:Class MONDO:0008364 biolink:NamedThing Raynaud disease An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. tmpak2llvmy_mondo_relaxed.owl Raynaud disease|Raynaud's disease|Raynaud's syndrome (disorder) [ambiguous]|secondary Raynaud phenomenon|secondary Raynaud's phenomenon|secondary Raynaud's disease|Raynaud's syndrome|cold fingers, hereditary|Raynaud syndrome|secondary Raynaud disease DOID:10300|SCTID:195295006|OMIM:179600|EFO:1001145|NCIT:C116359|MESH:D011928|ICD9:443.0|ICD10:I73.0|UMLS:C0034734 owl:Class MONDO:0016443 biolink:NamedThing papular elastorrhexis An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities. tmpak2llvmy_mondo_relaxed.owl eruptive collagenoma|Nevus anelasticus|disseminated nevus anelasticus NCIT:C4707|UMLS:C0473584|UMLS:C0406816|Orphanet:228264|SCTID:239138008 owl:Class MONDO:0016983 biolink:NamedThing Bartter syndrome with hypocalcemia Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) tmpak2llvmy_mondo_relaxed.owl Bartter syndrome type V|Bartter syndrome type 5 ICD10:E26.8|Orphanet:263417|UMLS:C3715128 owl:Class MONDO:0017781 biolink:NamedThing 12p12.1 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 12p12.1|Del(12)(p12.1) UMLS:CN203731|Orphanet:313884|ICD10:Q93.5 owl:Class HGNC:4803 biolink:NamedThing HADHB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003121 biolink:NamedThing middle cranial fossa meningioma A meningioma that affects the middle cranial fossa. tmpak2llvmy_mondo_relaxed.owl meningioma of middle cranial fossa|meningioma (disease) of middle cranial fossa|meningioma of the middle cranial fossa|middle cranial fossa meningioma (disease) DOID:4749|NCIT:C5586|UMLS:C1334757 owl:Class HGNC:4585 biolink:NamedThing GRIN2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002903 biolink:NamedThing articulation disorder A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). tmpak2llvmy_mondo_relaxed.owl articulation impairment|phonological disorder SCTID:386701004|DOID:4186|ICD9:315.39|NCIT:C92564|MESH:D001184 owl:Class NCBITaxon:1206794 biolink:NamedThing Ecdysozoa tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004754 biolink:NamedThing rectal prolapse Protrusion of the rectum through the anus. tmpak2llvmy_mondo_relaxed.owl rectal prolapse|rectal prolapse (disease)|procidentia, rectum rectal prolapse (disease) UMLS:C0034888|ICD10:K62.3|HP:0002035|DOID:9307|ICD9:569.1|NCIT:C34973 owl:Class MONDO:0019430 biolink:NamedThing X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. tmpak2llvmy_mondo_relaxed.owl Orphanet:85338|ICD10:G31.8|UMLS:CN227633 owl:Class MONDO:0008529 biolink:NamedThing T-cell Subgroups, non-HLA-linked tmpak2llvmy_mondo_relaxed.owl T-cell Subgroups, non-HLA-linked OMIM:186950 owl:Class GO:0060089 biolink:NamedThing molecular transducer activity A compound molecular function in which an effector function is controlled by one or more regulatory components. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2000065 biolink:NamedThing negative regulation of cortisol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of cortisol synthesis|negative regulation of cortisol biosynthesis|negative regulation of cortisol anabolism|negative regulation of cortisol formation owl:Class MONDO:0003953 biolink:NamedThing pediatric CNS choriocarcinoma A choriocarcinoma that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric central nervous system choriocarcinoma|choriocarcinoma of pediatric CNS|choriocarcinoma of the pediatric central nervous system|choriocarcinoma of the pediatric CNS|choriocarcinoma of childhood CNS|choriocarcinoma of the childhood central nervous system|choriocarcinoma of the childhood CNS|childhood CNS choriocarcinoma|childhood central nervous system choriocarcinoma|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of the central nervous system of childhood|Central nervous system choriocarcinoma|childhood choriocarcinoma of the central nervous system|choriocarcinoma of childhood central nervous system|choriocarcinoma of pediatric central nervous system NCIT:C6206|UMLS:C1377604|DOID:6639 owl:Class MONDO:0011846 biolink:NamedThing bulimia nervosa, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl BULN1|BN|bulimia nervosa, susceptibility to, type 2|bulimia nervosa, susceptibility to, 2|anorexia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, 1|BULN|BULN2|susceptibility to bulimia nervosa 2|bulimia nervosa, susceptibility to UMLS:CN244558|OMIM:607499|OMIM:610269 owl:Class MONDO:0033373 biolink:NamedThing developmental and epileptic encephalopathy, 64 tmpak2llvmy_mondo_relaxed.owl DEE64|EIEE64|epileptic encephalopathy, early infantile, 64 UMLS:CN248512|OMIM:618004 owl:Class MONDO:0003475 biolink:NamedThing papillary ependymoma A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl papillary ependymoma NCIT:C4319|ICDO:9393/3|DOID:5505|UMLS:C0334578 owl:Class MONDO:0003894 biolink:NamedThing mediastinal melanocytic neurilemmoma A melanotic schwannoma that affects the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinal melanotic schwannoma|melanocytic schwannoma of mediastinum|mediastinal melanocytic schwannoma|melanocytic schwannoma of the mediastinum|melanocytic neurilemmoma of the mediastinum|melanocytic neurilemmoma of mediastinum NCIT:C6635|UMLS:C1334668|DOID:6484 owl:Class MONDO:0002821 biolink:NamedThing trabecular follicular adenocarcinoma tmpak2llvmy_mondo_relaxed.owl follicular adenocarcinoma, trabecular (morphologic abnormality)|follicular adenocarcinoma, trabecular|trabecular follicular carcinoma UMLS:C0334327|DOID:3964 owl:Class MONDO:0015532 biolink:NamedThing generalized eruptive histiocytosis tmpak2llvmy_mondo_relaxed.owl generalized eruptive histiocytoma UMLS:C0347404|Orphanet:157991|ICD10:D76.3|SCTID:110980006 owl:Class MONDO:0018672 biolink:NamedThing IgG4-related aortitis tmpak2llvmy_mondo_relaxed.owl IgG4-related periaortitis Orphanet:449400|ICD10:I77.6 owl:Class GO:0000323 biolink:NamedThing lytic vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009674 biolink:NamedThing accessory XI nerve spinal component The spinal root of accessory nerve (or part) is firm in texture, and its fibers arise from the motor cells in the lateral part of the anterior column of the gray substance of the medulla spinalis as low as the fifth cervical nerve. Passing through the lateral funiculus of the medulla spinalis, they emerge on its surface and unite to form a single trunk, which ascends between the ligamentum denticulatum and the posterior roots of the spinal nerves; enters the skull through the foramen magnum, and is then directed to the jugular foramen, through which it passes, lying in the same sheath of dura mater as the vagus, but separated from it by a fold of the arachnoid. In the jugular foramen, it receives one or two filaments from the cranial part of the nerve, or else joins it for a short distance and then separates from it again. As its exit from the jugular foramen, it runs backward in front of the internal jugular vein in 66.6 per cent. of cases, and behind in it 33.3 per cent. The nerve then descends obliquely behind the Digastricus and Stylohyoideus to the upper part of the Sternocleidomastoideus; it pierces this muscle, and courses obliquely across the posterior triangle of the neck, to end in the deep surface of the Trapezius. As it traverses the Sternocleidomastoideus it gives several filaments to the muscle, and joins with branches from the second cervical nerve. In the posterior triangle it unites with the second and third cervical nerves, while beneath the Trapezius it forms a plexus with the third and fourth cervical nerves, and from this plexus fibers are distributed to the muscle. tmpak2llvmy_mondo_relaxed.owl spinal part of the accessory nerve owl:Class HGNC:21285 biolink:NamedThing ADCY10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010630 biolink:NamedThing imprinting gene related to retinoblastoma tmpak2llvmy_mondo_relaxed.owl imprinting gene related to retinoblastoma OMIM:308290 owl:Class MONDO:0020160 biolink:NamedThing secondary entropion tmpak2llvmy_mondo_relaxed.owl ICD10:H02.0|Orphanet:98569 owl:Class MONDO:0032879 biolink:NamedThing megabladder, congenital tmpak2llvmy_mondo_relaxed.owl MEGABLADDER, CONGENITAL|MGBL OMIM:618719 owl:Class MONDO:0100445 biolink:NamedThing LCA5 retinopathy A retinopathy caused by biallelic variants in the LCA5 gene. tmpak2llvmy_mondo_relaxed.owl amaurosis congenita of Leber, type 5|Leber congenital amaurosis type 5|LCA5 retinopathy|LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis 5|Leber congenital amaurosis caused by mutation in LCA5 owl:Class MONDO:0025431 biolink:NamedThing keratoconjunctivitis, infectious Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia. tmpak2llvmy_mondo_relaxed.owl infectious keratoconjunctivitis|Keratoconjunctivitides, infectious|infectious Keratoconjunctivitides MESH:D007639|UMLS:C0022576 owl:Class HGNC:2605 biolink:NamedThing CYP27A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19261 biolink:NamedThing MTO1 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:4000032 biolink:NamedThing exposure to decreased water temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water. tmpak2llvmy_mondo_relaxed.owl exposure to decreased amount in temperature of water owl:Class MONDO:0013826 biolink:NamedThing autosomal recessive nonsyndromic deafness 86 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpak2llvmy_mondo_relaxed.owl TBC1D24 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 86|DFNB86|autosomal recessive nonsyndromic deafness type 86|autosomal recessive deafness 86|deafness, autosomal recessive type 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24 UMLS:C2829265|ICD10:H90.3|OMIM:614617|DOID:0110532 owl:Class MONDO:0002778 biolink:NamedThing epidural spinal canal meningioma A meningioma that arises in the epidural spinal canal space. tmpak2llvmy_mondo_relaxed.owl meningioma of epidural spinal canal|meningioma of the epidural spinal canal DOID:3809|UMLS:C1333417|NCIT:C5310 owl:Class MONDO:0010463 biolink:NamedThing X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. tmpak2llvmy_mondo_relaxed.owl X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome|chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia OMIM:300863|ICD10:Q87.8|Orphanet:163966|UMLS:C3275476|SCTID:719837003 owl:Class MONDO:0043089 biolink:NamedThing acute posterior multifocal placoid pigment epitheliopathy Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications. tmpak2llvmy_mondo_relaxed.owl epitheliopathy, acute posterior multifocal placoid pigment|apmppe|APMPPE|acute placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy|acute multifocal placoid pigment epitheliopathy|AMPPE|multifocal placoid pigment epitheliopathy|amppe - acute multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis GARD:0002183|UMLS:C0154884|SCTID:89188001 owl:Class HGNC:14921 biolink:NamedThing TAS2R16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009278 biolink:NamedThing hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. tmpak2llvmy_mondo_relaxed.owl M/SCHAD|Hadh deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinism due to SCHAD deficiency|HADH deficiency|3-hydroxyacyl-CoA dehydrogenase deficiency|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|M-SCHAD deficiency|SCHAD deficiency, formerly|medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|had deficiency|SCHAD deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|HADHSC deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency 2022-02-01 MESH:C535310|GARD:0009870|Orphanet:71212|ICD10:E71.3 Reason: duplicate. This will be merged with MONDO:0012382 'hyperinsulinemic hypoglycemia, familial, 4'. https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency|https://github.com/monarch-initiative/mondo/issues/3977 owl:Class MONDO:0024379 biolink:NamedThing circadian rhythm sleep disorder, irregular sleep wake type A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day. tmpak2llvmy_mondo_relaxed.owl ISWD|irregular sleep-wake disorder|irregular sleep-wake pattern SCTID:271793004|UMLS:C0393771|ICD10:G47.23|ICD9:327.33 owl:Class CHEBI:36961 biolink:NamedThing chalcocarbonic acid tmpak2llvmy_mondo_relaxed.owl chalcocarbonic acids|chalcocarbonic acid owl:Class MONDO:0012798 biolink:NamedThing deafness, unilateral, with delayed endolymphatic hydrops tmpak2llvmy_mondo_relaxed.owl deafness, unilateral, with delayed endolymphatic hydrops UMLS:C2677512|MESH:C567420|OMIM:612097 owl:Class MONDO:0004961 biolink:NamedThing stage I endometrioid carcinoma Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix. tmpak2llvmy_mondo_relaxed.owl EFO:0000205 owl:Class NCIT:C36745 biolink:NamedThing Abnormal Epithelial Cell tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7160 biolink:NamedThing MMP14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002694 biolink:NamedThing cavernous sinus thrombosis Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) tmpak2llvmy_mondo_relaxed.owl thrombosis of cavernous venous sinus SCTID:89980009|DOID:3575|MESH:D020226|UMLS:C0238454 owl:Class MONDO:0002692 biolink:NamedThing intracranial sinus thrombosis Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects. tmpak2llvmy_mondo_relaxed.owl MESH:D012851|UMLS:C0037198|DOID:3572 owl:Class MONDO:0033572 biolink:NamedThing intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES|IDDEBF OMIM:619031 owl:Class UBERON:0018115 biolink:NamedThing left renal pelvis A renal pelvis that is part of a left ureter. tmpak2llvmy_mondo_relaxed.owl pelvis of left ureter|renal pelvis of left kidney owl:Class MONDO:0019394 biolink:NamedThing Senior-Boichis syndrome Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. tmpak2llvmy_mondo_relaxed.owl Boichis disease|nephronophthisis-hepatic fibrosis syndrome SCTID:717187000|UMLS:CN206093|Orphanet:84081 owl:Class MONDO:0008405 biolink:NamedThing scapula, contour of vertebral border of tmpak2llvmy_mondo_relaxed.owl scapula, contour of vertebral border of OMIM:181300 owl:Class MONDO:0018183 biolink:NamedThing staphylococcal necrotizing pneumonia Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. tmpak2llvmy_mondo_relaxed.owl Orphanet:36238|SCTID:763888005|ICD10:J15.2 owl:Class MONDO:0007932 biolink:NamedThing age related macular degeneration 2 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. tmpak2llvmy_mondo_relaxed.owl macular Degeneration, Senile|macular degeneration, age-related, 2|age related macular degeneration type 2|macular Degeneration, age-related, type 2|maculopathy, age-related, 2|ARMD2 MESH:C562479|UMLS:C3495438|DOID:0110015|OMIM:153800 owl:Class MONDO:0003542 biolink:NamedThing dental pulp calcification tmpak2llvmy_mondo_relaxed.owl pulpal calcifications|pulp calcifications|pulp calcification SCTID:57602001|ICD10:K04.2|UMLS:C0011401|DOID:5608|MESH:D003784 owl:Class PATO:0001657 biolink:NamedThing increased osmolarity A osmolarity which is relatively high. tmpak2llvmy_mondo_relaxed.owl high osmolarity owl:Class MONDO:0014138 biolink:NamedThing nemaline myopathy 8 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. tmpak2llvmy_mondo_relaxed.owl nemaline myopathy 8|nemaline myopathy type 8|nemaline myopathy caused by mutation in KLHL40|nemaline myopathy 8, autosomal recessive|KLHL40 nemaline myopathy|NEM8 UMLS:C3809209|DOID:0110930|NCIT:C129871|OMIM:615348 owl:Class NCBITaxon:2039 biolink:NamedThing Tropheryma whipplei tmpak2llvmy_mondo_relaxed.owl Tropheryma whippelii|Whipple's disease-associated bacterium|Whipple's bacillus PMID:10555351|PMID:10843039|PMID:8863438|PMID:1377787|PMID:11491348|GC_ID:11 ncbi_taxonomy owl:Class FOODON:00001053 biolink:NamedThing fermented dairy food product tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24564 biolink:NamedThing C2CD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017325 biolink:NamedThing early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. tmpak2llvmy_mondo_relaxed.owl early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ICD10:E72.1|Orphanet:289266 owl:Class UBERON:0006290 biolink:NamedThing scapula cartilage element A scapula endochondral element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:236781 biolink:NamedThing Tineinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41012 biolink:NamedThing Tineidae tmpak2llvmy_mondo_relaxed.owl clothes moths|clothes-moths|fungus moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020454 biolink:NamedThing congenital complete agenesis of pericardium Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. tmpak2llvmy_mondo_relaxed.owl Orphanet:99129|ICD10:Q24.8 owl:Class MONDO:0005425 biolink:NamedThing podoconiosis A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. tmpak2llvmy_mondo_relaxed.owl nonfilarial elephantiasis|elephantiasis from soil|soil elephantiasis|non-filarial elephantiasis ICD9:457.1|DOID:0050138|SCTID:47595008|EFO:0004712 owl:Class NCBITaxon:171549 biolink:NamedThing Bacteroidales tmpak2llvmy_mondo_relaxed.owl PMID:28905708|GC_ID:11 ncbi_taxonomy owl:Class GO:0098642 biolink:NamedThing network-forming collagen trimer A collagen trimer that forms networks. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7675 biolink:NamedThing NDN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017543 biolink:NamedThing zygodactyly type 2 tmpak2llvmy_mondo_relaxed.owl Zygodactyly, Lueken type|syndactyly type 1, Lueken type|SD1, Lueken type|syndactyly type 1b|SD1b UMLS:CN203275|ICD10:Q70.3|ICD10:Q70.0|Orphanet:295189|ICD10:Q70.2|ICD10:Q70.1 owl:Class HP:0030810 biolink:NamedThing Abnormal tongue physiology Any functional anomaly of the tongue. tmpak2llvmy_mondo_relaxed.owl UMLS:C4280754 human_phenotype owl:Class CHEBI:25046 biolink:NamedThing linear tetrapyrrole tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6682 biolink:NamedThing Eucarida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:72041 biolink:NamedThing Eumalacostraca tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006488 biolink:NamedThing vaginal carcinosarcoma An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. tmpak2llvmy_mondo_relaxed.owl vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal carcinosarcoma|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Müllerian) tumor|vaginal malignant mixed Mullerian tumor NCIT:C40278|DOID:136|EFO:1000618|UMLS:C1519918 owl:Class MONDO:0017388 biolink:NamedThing celiac trunk compression syndrome tmpak2llvmy_mondo_relaxed.owl Dunbar syndrome UMLS:CN203119|Orphanet:293208|ICD10:I77.4 owl:Class MONDO:0015927 biolink:NamedThing idiopathic eosinophilic pneumonia tmpak2llvmy_mondo_relaxed.owl ICD10:J82|Orphanet:182101|SCTID:708031000|UMLS:C3872845 owl:Class MONDO:0017033 biolink:NamedThing primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder tmpak2llvmy_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar vascular disorder 2022-03-01 UMLS:CN202345|Orphanet:264935 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0010209 biolink:NamedThing xanthinuria type I A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. tmpak2llvmy_mondo_relaxed.owl xanthinuria type 1|isolated xanthine oxidase deficiency|xanthine dehydrogenase deficiency|xanthine oxidoreductase deficiency|xanthinuria type I|type 1 xanthinuria|hereditary xanthinuria, type I|XAN1|XDH deficiency|xanthinuria, type 1|XOR deficiency|xanthinuria, type I|XO deficiency|xanthine oxidase deficiency Orphanet:93601|OMIM:278300|ICD10:E79.8|MESH:C562584|SCTID:72682008|GARD:0005621 owl:Class HGNC:9832 biolink:NamedThing RAG2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020800 biolink:NamedThing demyelinating disease of central nervous system Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system. tmpak2llvmy_mondo_relaxed.owl Demyelinating disease of central nervous system|Demyelinating Disease of Central Nervous System|demyelinating disease of central nervous system|demyelinating cns disease|Demyelinating disease central nervous system (CNS)|demyelinating disorder of central nervous system|Demyelinating CNS disease|demyelinating disorders of the central nervous system|Demyelinating disorders of the central nervous system|demyelinating disease central nervous system (cns)|Demyelinating Disorder of Central Nervous System GARD:0012052|SCTID:6118003|NCIT:C34526|ICD9:341.9|ICD9:341.8|UMLS:C0011302 Editor note: see: https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44 owl:Class MONDO:0004504 biolink:NamedThing penile urethral cancer A urethra cancer that involves the penis. tmpak2llvmy_mondo_relaxed.owl penile urethral malignant neoplasm|penis urethra cancer|urethra cancer of penis UMLS:C1518950|DOID:8223|NCIT:C39868 owl:Class MONDO:0004840 biolink:NamedThing non-congenital cyst of kidney tmpak2llvmy_mondo_relaxed.owl ICD9:593.2|UMLS:C0268799|SCTID:105999006|ICD10:N28.1|DOID:9621 owl:Class HsapDv:0000139 biolink:NamedThing 45-year-old human stage Middle aged stage that refers to an adult who is over 45 and under 46. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006945 biolink:NamedThing renal artery obstruction Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). tmpak2llvmy_mondo_relaxed.owl EFO:1001150|UMLS:C0035066|MESH:D012078|ICD10:N28.0|DOID:2972 owl:Class GO:1903565 biolink:NamedThing negative regulation of protein localization to cilium Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. tmpak2llvmy_mondo_relaxed.owl inhibition of protein localization to cilium|down-regulation of protein localization to cilium|down regulation of protein localization to cilium|downregulation of protein localization to cilium owl:Class MONDO:0023528 biolink:NamedThing KSHV inflammatory cytokine syndrome A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. tmpak2llvmy_mondo_relaxed.owl KICS|KSHV inflammatory cytokine syndrome|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome GARD:0010827|UMLS:C4086533|NCIT:C125711 https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome owl:Class NCBITaxon:5061 biolink:NamedThing Aspergillus niger tmpak2llvmy_mondo_relaxed.owl Aspergillus lacticoffeatus GC_ID:1|PMID:21892240 NCBITaxon:319628 ncbi_taxonomy owl:Class MONDO:0012974 biolink:NamedThing autosomal dominant nonsyndromic deafness 59 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 59|DFNA59|autosomal dominant deafness 59|deafness, autosomal dominant 59 UMLS:C2675238|ICD10:H90.3|DOID:0110583|OMIM:612642|MESH:C567216 owl:Class MONDO:0013604 biolink:NamedThing myopia 21, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. tmpak2llvmy_mondo_relaxed.owl myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|MYP21|ZNF644 myopia (disease) UMLS:C3279997|OMIM:614167 owl:Class MONDO:0009163 biolink:NamedThing encephalomalacia, multilocular tmpak2llvmy_mondo_relaxed.owl encephalomalacia, multilocular MESH:C565597|OMIM:225700|UMLS:C1856991 owl:Class MONDO:0007655 biolink:NamedThing fissured tongue tmpak2llvmy_mondo_relaxed.owl erythema migrans|scrotal tongue|tongue, fissured|plicated tongue|geographic tongue and fissured tongue|fissure of tongue|glossitis, benign migratory|Furrowed tongue|fissure of tongue, congenital|congenital plicated tongue|geographic and fissured tongue|ectopic geographic tongue|congenital fissure of tongue|lingua plicata DOID:11514|OMIM:137400|ICD10:K14.5|ICD9:750.13|MESH:D014063|UMLS:C0040412|ICD9:529.5|SCTID:52368004|UMLS:C1842051|GARD:0006493 owl:Class MONDO:0013581 biolink:NamedThing intellectual disability, autosomal dominant 2 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene. tmpak2llvmy_mondo_relaxed.owl DOCK8 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|intellectual disability, autosomal dominant 2|autosomal dominant mental retardation 2|mental retardation, autosomal dominant 2|autosomal dominant intellectual disability 2|intellectual disability, autosomal dominant type 2|mental retardation, autosomal dominant type 2|MRD2|autosomal dominant non-syndromic intellectual disability 2 DOID:0070032|UMLS:C3279842|OMIM:614113 owl:Class MONDO:0009950 biolink:NamedThing pyruvate kinase deficiency of red cells Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl pyruvate kinase deficiency of erythrocyte|pyruvate kinase deficiency of red cells|hemolytic Anemia due to pyruvate Kinase deficiency|PK deficiency|pyruvate kinase deficiency|hemolytic anemia due to red cell pyruvate kinase deficiency|Pk deficiency|pyruvate kinase deficiency of erythrocytes Orphanet:766|ICD10:D55.2|SCTID:124331002|MESH:C564858|OMIM:266200|GARD:0007514|NCIT:C99037|UMLS:C0340968|DOID:0111077 owl:Class MONDO:0022612 biolink:NamedThing Brunsting-Perry syndrome tmpak2llvmy_mondo_relaxed.owl cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome|localized cicatricial pemphigoid UMLS:C1304226|EFO:0008611|GARD:0010454 https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome owl:Class PO:0025082 biolink:NamedThing reproductive shoot system A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094). tmpak2llvmy_mondo_relaxed.owl sistema de brote reproductivo (Spanish, exact)|生殖シュート 系、苗条系 (Japanese, exact) rwalls 2010-09-17T09:49:10Z plant_anatomy owl:Class UBERON:0001838 biolink:NamedThing sublingual duct A duct of a sublingual gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022771 biolink:NamedThing circumscribed disseminated keratosis Jadassohn lew type tmpak2llvmy_mondo_relaxed.owl GARD:0001366 https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type owl:Class MONDO:0031008 biolink:NamedThing nephrotic syndrome, type 24 tmpak2llvmy_mondo_relaxed.owl NPHS24 OMIM:619263 owl:Class GO:0042044 biolink:NamedThing fluid transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:57077 biolink:NamedThing Dicrocoelium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:73421 biolink:NamedThing Dicrocoeliidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011335 biolink:NamedThing spondyloepimetaphyseal dysplasia with multiple dislocations A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|SEMD-MD|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|SEMDJL2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type OMIM:603546|MESH:C535784|GARD:0009866|NCIT:C125419|Orphanet:93360|ICD10:Q77.7|DOID:0112199|SCTID:766820007|UMLS:C1863732 https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations owl:Class HGNC:6494 biolink:NamedThing LAMC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017487 biolink:NamedThing radial hemimelia, bilateral tmpak2llvmy_mondo_relaxed.owl radial longitidinal meromelia, bilateral Orphanet:295071|ICD10:Q71.4 owl:Class MONDO:0019671 biolink:NamedThing radial hemimelia Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. tmpak2llvmy_mondo_relaxed.owl radial ray agenesis|radial clubhand|radial longitidinal meromelia|congenital longitudinal deficiency of the radius ICD10:Q71.4|SCTID:48008009|GARD:0000225|Orphanet:93321|ICD9:755.59 owl:Class MONDO:0016249 biolink:NamedThing hereditary site-specific ovarian cancer syndrome Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. tmpak2llvmy_mondo_relaxed.owl ICD10:C56|Orphanet:213524|UMLS:CN201037 owl:Class MONDO:0015713 biolink:NamedThing idiopathic central precocious puberty tmpak2llvmy_mondo_relaxed.owl ICD9:259.1|NCIT:C120372|Orphanet:169615|SCTID:237817008|UMLS:C0342544|ICD10:E22.8 owl:Class HGNC:30802 biolink:NamedThing PNPLA2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013773 biolink:NamedThing right nipple A nipple that is in_the_right_side_of a body proper. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011222 biolink:NamedThing glaucoma 1, open angle, D tmpak2llvmy_mondo_relaxed.owl glaucoma 1, open angle, D|GLC1D|glaucoma, primary open angle, adult-onset UMLS:C1865427|MESH:C566551|OMIM:602429 owl:Class MONDO:0001530 biolink:NamedThing secondary hyperparathyroidism of renal origin tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism due to renal insufficiency|secondary hyperparathyroidism (of renal origin) SCTID:19034001|ICD9:588.81|ICD10:N25.81|DOID:12465|UMLS:C0271847 owl:Class MONDO:0032878 biolink:NamedThing neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia tmpak2llvmy_mondo_relaxed.owl NEDBASH|NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM:618718 owl:Class CL:0002453 biolink:NamedThing oligodendrocyte precursor cell The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-11-10T02:51:34Z cell owl:Class GO:0090273 biolink:NamedThing regulation of somatostatin secretion Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019197 biolink:NamedThing folinic acid-responsive seizures Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. tmpak2llvmy_mondo_relaxed.owl Folinic acid responsive seizures Orphanet:79097|ICD10:G40.3|UMLS:CN205780|SCTID:717276003 Editor note: TODO request from CHEBI owl:Class MONDO:0010605 biolink:NamedThing hemopoietic proliferation tmpak2llvmy_mondo_relaxed.owl hemopoietic proliferation OMIM:306930 owl:Class MONDO:0021294 biolink:NamedThing carcinoma in situ of gastric cardia A in situ carcinoma that involves the cardia of stomach. tmpak2llvmy_mondo_relaxed.owl gastric cardia carcinoma in situ aJCC v6 and v7|gastric cardia carcinoma in situ|stage 0 gastric cardia carcinoma|carcinoma in situ of the gastric cardia|carcinoma in situ of cardia of stomach|cardia of stomach carcinoma in situ|stage 0 cardia of stomach carcinoma|cardia of stomach in situ carcinoma|carcinoma in situ of the cardia of the stomach UMLS:C0345795|NCIT:C4428|SCTID:92560002 owl:Class HP:0033479 biolink:NamedThing Abnormal circulating bilirubin concentration tmpak2llvmy_mondo_relaxed.owl 2021-01-09 23:02:44+00:00 peter human_phenotype owl:Class MONDO:0010640 biolink:NamedThing Leber optic atrophy, susceptibility to tmpak2llvmy_mondo_relaxed.owl Loas|Leber hereditary optic neuropathy, modifier of|Leber optic atrophy, susceptibility to|Lhon, modifier of OMIM:308905 owl:Class MONDO:0019429 biolink:NamedThing X-linked neurodegenerative syndrome, Hamel type X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. tmpak2llvmy_mondo_relaxed.owl Orphanet:85336|ICD10:G31.8|SCTID:718847005|UMLS:CN206187 owl:Class HP:0004357 biolink:NamedThing Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025341 peter 2008-03-17T03:02:00Z human_phenotype owl:Class MONDO:0015038 biolink:NamedThing lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia. tmpak2llvmy_mondo_relaxed.owl Orphanet:100015|ICD10:Q04.3|UMLS:CN228904 owl:Class CHEBI:49475 biolink:NamedThing argon atom tmpak2llvmy_mondo_relaxed.owl argon|18Ar|Ar owl:Class MONDO:0025066 biolink:NamedThing epidermitis, exudative, of swine An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) tmpak2llvmy_mondo_relaxed.owl exudative dermatitis of swine|disease, greasy pig|swine exudative Dermatitides|swine exudative dermatitis|Epidermitis, exudative of swine|greasy pig disease UMLS:C0014521|MESH:D004818 owl:Class MONDO:0009598 biolink:NamedThing metaphyseal chondrodysplasia-retinitis pigmentosa syndrome tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa with or without skeletal anomalies|metaphyseal chondrodysplasia with retinitis pigmentosa|brachydactyly-short stature-retinitis pigmentosa syndrome|RPSKA OMIM:250410|Orphanet:166035|MESH:C565398|UMLS:C1855188 owl:Class MONDO:0012208 biolink:NamedThing congenital reticular ichthyosiform erythroderma tmpak2llvmy_mondo_relaxed.owl ichthyosis variegata|erythrokeratoderma, reticular|CRIE|Aarau disease|ichthyosis with confetti|erythroderma, ichthyosiform, congenital reticular|IWC MESH:C563781|OMIM:609165|SCTID:703504006|Orphanet:281190|UMLS:C3665704 owl:Class HGNC:28178 biolink:NamedThing CCDC115 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001113 biolink:NamedThing Fiedler's myocarditis tmpak2llvmy_mondo_relaxed.owl isolated (Fiedler's) myocarditis|idiopathic myocarditis|fiedler myocarditis DOID:10778|SCTID:266238009|ICD9:422.91|UMLS:C0155689|ICD10:I40.1 owl:Class MONDO:0020769 biolink:NamedThing Menke-Hennekam syndrome 2 tmpak2llvmy_mondo_relaxed.owl MKHK2|Menke-Hennekam syndrome 2 OMIM:618333 owl:Class MONDO:0022740 biolink:NamedThing Christian Johnson angenieta syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001316 https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome owl:Class MONDO:0003965 biolink:NamedThing Capgras syndrome A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. tmpak2llvmy_mondo_relaxed.owl Capgras delusion theory MESH:D002194|NCIT:C34446|DOID:6680 owl:Class MONDO:0020493 biolink:NamedThing Haddad syndrome Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. tmpak2llvmy_mondo_relaxed.owl ondine-Hirschsprung disease|Haddad syndrome|congenital central alveolar hypoventilation-Hirschsprung disease syndrome|ondine-Hirschsprung syndrome ICD10:G47.3|Orphanet:99803|SCTID:719972004 owl:Class MONDO:0018133 biolink:NamedThing attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. tmpak2llvmy_mondo_relaxed.owl atypical Chediak-Higashi syndrome|attenuated Chediak-Higashi syndrome|atypical Chédiak-Higashi syndrome UMLS:CN204519|SCTID:720520009|ICD10:E70.3|Orphanet:352723|UMLS:C4304022 owl:Class MONDO:0007114 biolink:NamedThing angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. tmpak2llvmy_mondo_relaxed.owl ASPED|Angel shaped phalangoepiphyseal dysplasia|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia OMIM:105835|MESH:C536361|SCTID:720984008|ICD10:Q78.8|MedDRA:10066017|GARD:0000671|Orphanet:63442 owl:Class MONDO:0030871 biolink:NamedThing vertebral hypersegmentation and orofacial anomalies tmpak2llvmy_mondo_relaxed.owl VHO OMIM:619122 owl:Class CL:0002574 biolink:NamedThing stromal cell of pancreas A stromal cell of the pancreas. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-02T02:40:41Z cell owl:Class MONDO:0100220 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 2 tmpak2llvmy_mondo_relaxed.owl RILDBC2|RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 OMIM:619013 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013360 biolink:NamedThing brachyolmia, Maroteaux type Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias. tmpak2llvmy_mondo_relaxed.owl brachyolmia type 2|brachyolmia, Maroteaux type|BCYM2 ICD10:Q76.3|SCTID:389165004|OMIM:613678|Orphanet:93302 owl:Class HGNC:13481 biolink:NamedThing UNC93B1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38166 biolink:NamedThing organic heteropolycyclic compound tmpak2llvmy_mondo_relaxed.owl organic heteropolycyclic compounds owl:Class NCBITaxon:186627 biolink:NamedThing Cypriniphysae tmpak2llvmy_mondo_relaxed.owl Cypriniphysi GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186626 biolink:NamedThing Otophysi tmpak2llvmy_mondo_relaxed.owl Otophysa GC_ID:1 ncbi_taxonomy owl:Class CHEBI:83820 biolink:NamedThing non-proteinogenic amino acid Any amino-acid that is not naturally encoded in the genetic code of any organism. tmpak2llvmy_mondo_relaxed.owl non-proteinogenic amino-acids|non-proteinogenic amino acids|non-coded amino-acid|non-coded amino acids|non-proteinogenic amino-acid|non-canonical amino acids|non-canonical amino-acid|non-coded amino-acids|non-canonical amino-acids|non-canonical amino acid|non-coded amino acid owl:Class MONDO:0011459 biolink:NamedThing arrhythmogenic right ventricular dysplasia 5 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 5|ARVC5|familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia type 5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|arrhythmogenic right ventricular dysplasia, familial, type 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy 5|ARVD5 UMLS:C1858379|OMIM:604400|MESH:C565776|DOID:0110074|ICD10:I42.8 owl:Class MONDO:0004890 biolink:NamedThing partial central choroid dystrophy tmpak2llvmy_mondo_relaxed.owl partial central dystrophy of choroid|partial central choroid dystrophy|choroidal dystrophy, central areolar|circinate choroidal dystrophy UMLS:C0339427|DOID:9822|ICD9:363.53|SCTID:193468002 owl:Class MONDO:0016546 biolink:NamedThing primary orthostatic tremor Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. tmpak2llvmy_mondo_relaxed.owl pot|OT|orthostatic tremor, primary|shaky leg syndrome Orphanet:238606|GARD:0008563|MESH:C536418|ICD10:G25.2|SCTID:715902009 https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor owl:Class GO:0043932 biolink:NamedThing ossification involved in bone remodeling The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. tmpak2llvmy_mondo_relaxed.owl ossification involved in bone remodelling owl:Class CHEBI:16541 biolink:NamedThing protein polypeptide chain A naturally occurring polypeptide synthesized at the ribosome. tmpak2llvmy_mondo_relaxed.owl Protein|protein polypeptide chains|polypeptide chain owl:Class UBERON:0004715 biolink:NamedThing annulus fibrosus disci intervertebralis The ring of fibrocartilage and fibrous tissue forming the circumference of the intervertebral disc; surrounds the nucleus pulposus, which is prone to herniation when the annulus fibrosus is compromised. tmpak2llvmy_mondo_relaxed.owl fibrous ring of intervertebral disc|anulus fibrosus (diskus intervertebralis)|anulus fibrosus of intervertebral disk|annulus fibrosus of intervertebral disc|annulus fibrosus owl:Class CL:0007002 biolink:NamedThing precementoblast Skeletogenic cell that has the potential to develop into a cementoblast. tmpak2llvmy_mondo_relaxed.owl haendel 2012-06-15T04:37:13Z cell owl:Class MONDO:0013630 biolink:NamedThing Meckel syndrome, type 9 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpak2llvmy_mondo_relaxed.owl Meckel syndrome, type 9|MKS9|B9D1 Meckel syndrome|Meckel syndrome caused by mutation in B9D1 OMIM:614209|UMLS:C3280155 owl:Class HGNC:24123 biolink:NamedThing B9D1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:445 biolink:NamedThing SETX tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p12.1 biolink:NamedThing chr16p12.1 (Human) tmpak2llvmy_mondo_relaxed.owl 28500000 24200000 hg38 owl:Class MONDO:0011169 biolink:NamedThing keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. tmpak2llvmy_mondo_relaxed.owl Klick syndrome|keratosis linearis with ichthyosis congenita and sclerosing keratoderma|keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome|KLICK|KLICK syndrome MESH:C566600|ICD10:Q82.8|OMIM:601952|UMLS:C1866029|SCTID:763775000|Orphanet:281201 owl:Class HGNC:20330 biolink:NamedThing POMP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0015037 biolink:NamedThing pedal digit 1 metatarsal endochondral element A pedal digit 1 metatarsal bone or its cartilage or pre-cartilage precursor. tmpak2llvmy_mondo_relaxed.owl pedal digit I metatarsal endochondral element|pedal digit 1 metatarsal skeletal element|pedal digit 1 metatarsal element owl:Class HGNC:12033 biolink:NamedThing TRAF3 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031268 biolink:NamedThing pseudopodium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. tmpak2llvmy_mondo_relaxed.owl pseudopodium organization and biogenesis|pseudopodium organisation owl:Class HGNC:8548 biolink:NamedThing P4HB tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000081 biolink:NamedThing child stage Immature stage that refers to child who is over 2 and under 13 years old. tmpak2llvmy_mondo_relaxed.owl 2-12 years owl:Class MONDO:0017658 biolink:NamedThing hyperekplexia A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia tmpak2llvmy_mondo_relaxed.owl ICD10:G25.8|Orphanet:306773 owl:Class HGNC:492 biolink:NamedThing ANK1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:46883 biolink:NamedThing carboxy group tmpak2llvmy_mondo_relaxed.owl CARBOXY GROUP|-CO2H|carboxy|-COOH|carboxyl group|-C(O)OH owl:Class MONDO:0013819 biolink:NamedThing intellectual disability, autosomal dominant 14 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant 14|COFFIN-SIRIS syndrome 2|mental retardation, autosomal dominant 14|autosomal dominant intellectual disability 14|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome 2|intellectual disability, autosomal dominant type 14|CSS2|MRD14|autosomal dominant mental retardation 14|ARID1A Coffin-Siris syndrome|Coffin-Siris syndrome caused by mutation in ARID1A OMIM:614607|UMLS:C3553247|DOID:0070044 owl:Class MONDO:0550003 biolink:NamedThing SEC61B-related polycystic liver disease Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene. tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1882 owl:Class HGNC:16993 biolink:NamedThing SEC61B tmpak2llvmy_mondo_relaxed.owl owl:Class N10b281a55529461695438586c5d33363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013559 biolink:NamedThing Hermansky-Pudlak syndrome 7 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. tmpak2llvmy_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in DTNBP1|Hermansky-Pudlak syndrome type 7|HPS7|DTNBP1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 7 UMLS:C3279756|DOID:0060545|ICD10:E70.3|OMIM:614076|Orphanet:231531 owl:Class GO:0005585 biolink:NamedThing collagen type II trimer A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004534 biolink:NamedThing microglandular adenosis of breast A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. tmpak2llvmy_mondo_relaxed.owl microglandular adenosis of the breast|breast microglandular adenosis NCIT:C5199|DOID:8335|UMLS:C1334753 owl:Class MONDO:0014845 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 22 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 22|VWA3B autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 22; SCAR22|SCAR22|spinocerebellar ataxia, autosomal recessive type 22|autosomal recessive cerebellar ataxia caused by mutation in VWA3B DOID:0111614|OMIM:616948|UMLS:C4310781 owl:Class MONDO:0044753 biolink:NamedThing lumbar spinal stenosis A spinal stenosis that involves the lumbar region of vertebral column. tmpak2llvmy_mondo_relaxed.owl lumbar spinal stenosis|lumbar region of vertebral column spinal stenosis|spinal stenosis of lumbar region|spinal stenosis of lumbar region of vertebral column UMLS:C0158288|HP:0004610|ICD9:724.02|SCTID:18347007 owl:Class MONDO:0013746 biolink:NamedThing ventricular septal defect 1 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpak2llvmy_mondo_relaxed.owl GATA4 ventricular septal defect (disease)|ventricular septal defect type 1|VSD1|ventricular septal defect 1|ventricular septal defect (disease) caused by mutation in GATA4 UMLS:C3280777|OMIM:614429 owl:Class CL:1000849 biolink:NamedThing kidney distal convoluted tubule epithelial cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001056 cell owl:Class HGNC:21641 biolink:NamedThing TSPAN12 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:28659 biolink:NamedThing phosphorus atom tmpak2llvmy_mondo_relaxed.owl Phosphorus|fosforo|phosphorus|phosphore|Phosphor|P|15P owl:Class MONDO:0013641 biolink:NamedThing Warburg micro syndrome 2 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. tmpak2llvmy_mondo_relaxed.owl Warburg micro syndrome type 2|Warburg micro syndrome caused by mutation in RAB3GAP2|micro syndrome 2|WARBURG micro syndrome 2|RAB3GAP2 Warburg micro syndrome|Warburg micro syndrome 2|WARBM2 ICD10:Q87.0|DOID:0110717|OMIM:614225|UMLS:C3280214 owl:Class MONDO:0008596 biolink:NamedThing trichorhinophalangeal syndrome type I An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. tmpak2llvmy_mondo_relaxed.owl trichorhinophalangeal dysplasia type I|TRPS1|Sugio-Kajii syndrome|type I trichorhinophalangeal syndrome|TRPS 1|trichorhinophalangeal syndrome, type I|trichorhinophalangeal syndrome type 1|Giedion syndrome|trichorhinophalangeal syndrome, type 1|type III trichorhinophalangeal syndrome|trichorhinophalangeal syndrome type I MESH:C536820|SCTID:254091006|NCIT:C75109|ICD9:759.89|DOID:14743|OMIM:190350|GARD:0007800 owl:Class HGNC:19344 biolink:NamedThing DENND5A tmpak2llvmy_mondo_relaxed.owl owl:Class N0f809ee33e564d2ca2fc6b1d22a5f3d1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:2867 biolink:NamedThing DHODH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11120 biolink:NamedThing SMPD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011971 biolink:NamedThing hyper-IgM syndrome type 5 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. tmpak2llvmy_mondo_relaxed.owl hyper IgM syndrome 5|hyper-IgM syndrome 5|hyper-IgM syndrome caused by mutation in UNG|hyper-IgM syndrome due to uracil N-glycosylase|immunodeficiency with hyper IgM type 5|UNG hyper-IgM syndrome|hyper-IgM syndrome type 5|HIGM5|hyper-IgM syndrome due to UNG deficiency|immunodeficiency with hyper-IgM, type 5 GARD:0010581|DOID:0060759|OMIM:608106|Orphanet:101092|ICD10:D80.5 https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 owl:Class OBI:0000684 biolink:NamedThing specimen collection objective A objective specification to obtain a material entity for potential use as an input during an investigation. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11234 biolink:NamedThing Measles morbillivirus tmpak2llvmy_mondo_relaxed.owl subacute sclerosing panencephalitis virus, SSPEV|Cell-associated subacute sclerosing panencephalitis|Subacute sclerosing panencephalitis virus|rubeola virus|measles virus MV|rougeole virus|subacute sclerose panencephalitis virus|Measles virus GC_ID:1 NCBITaxon:11230 ncbi_taxonomy owl:Class UBERON:0004469 biolink:NamedThing musculature of back Any collection of muscles that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscles of back|musculi dorsi|set of muscles of back|muscle group of back owl:Class N6e4a89a092b2427686614d8260f11d4c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0019882 biolink:NamedThing antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpak2llvmy_mondo_relaxed.owl antigen presentation|antigen processing owl:Class UBERON:0036244 biolink:NamedThing secretion of serous membrane A transudate found in the serous sac. tmpak2llvmy_mondo_relaxed.owl serous sac fluid|serous fluid owl:Class HGNC:9719 biolink:NamedThing PEX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011974 biolink:NamedThing retinitis pigmentosa 7 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa 7, digenic|RP 7|retinitis pigmentosa type 7|retinitis pigmentosa 7|Leber congenital amaurosis 18|RP7 ICD10:H35.5|GARD:0010386|DOID:0110383|OMIM:608133|UMLS:C1842475 https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7 owl:Class HGNC:10882 biolink:NamedThing SIM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012276 biolink:NamedThing generalized epilepsy-paroxysmal dyskinesia syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl epilepsy, generalized, with paroxysmal dyskinesia|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy|PNKD3|generalized epilepsy and paroxysmal dyskinesia|GEPD Orphanet:79137|MESH:C563719|OMIM:609446|ICD10:G40.3|UMLS:C1836173 owl:Class CL:0002232 biolink:NamedThing epithelial cell of prostatic duct An epithelial cell of prostatic duct. tmpak2llvmy_mondo_relaxed.owl ductal epithelial cell of prostate FMA:74224 tmeehan 2010-09-07T01:55:51Z CL:1000462 cell owl:Class PATO:0002039 biolink:NamedThing biconcave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. tmpak2llvmy_mondo_relaxed.owl owl:Class N7b0fe502098942aaaa4db7cbe813a821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:11828 biolink:NamedThing TJP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HsapDv:0000110 biolink:NamedThing 16-year-old human stage Adolescent stage that refers to an adolescent who is over 16 and under 17 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012934 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl Clls3|leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3 OMIM:612557 owl:Class CHEBI:16137 biolink:NamedThing chondroitin D-glucuronate A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units. tmpak2llvmy_mondo_relaxed.owl Chondroitin|Chondroitin-D-glucuronate owl:Class UBERON:0009032 biolink:NamedThing right pulmonary vein Vein that drains right lung and returns blood to the heart. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7569 biolink:NamedThing MYH11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013679 biolink:NamedThing sclerosteosis 2 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. tmpak2llvmy_mondo_relaxed.owl sclerosteosis type 2|sclerosteosis 2|LRP4 sclerosteosis|SOST2|sclerosteosis caused by mutation in LRP4 UMLS:C3280402|DOID:0060757|OMIM:614305|ICD10:M85.2 owl:Class MONDO:0006972 biolink:NamedThing silo filler disease A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. tmpak2llvmy_mondo_relaxed.owl silo filler's disease|silo filler disease|silo-fillers' disease DOID:4374|MESH:D012832|UMLS:C0037120|SCTID:61233003|EFO:1001182 owl:Class MONDO:0029133 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant 4 tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 1I|LGMDD4|muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM:618129 owl:Class MONDO:0004956 biolink:NamedThing metastatic prostate carcinoma A carcinoma that arises from the prostate gland and has spread to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl metastatic prostate carcinoma|prostate cancer metastatic|metastatic prostate cancer|prostate carcinoma metastatic EFO:0000196|ICD9:199.1|SCTID:314994000|NCIT:C8946 owl:Class NCBITaxon:774 biolink:NamedThing Bartonella bacilliformis tmpak2llvmy_mondo_relaxed.owl Bartonia bacilliformis GC_ID:11 ncbi_taxonomy owl:Class N9dd1786f81bb4d9eaa6f51b76ea93a8d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:20672 biolink:NamedThing PHF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010140 biolink:NamedThing isolated thyrotropin-releasing hormone deficiency Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. tmpak2llvmy_mondo_relaxed.owl isolated TRF deficiency|isolated thyrotropin-releasing factor deficiency|TRH deficiency|isolated thyroliberin deficiency|isolated protirelin deficiency|isolated TSH-releasing factor deficiency|tertiary hypothyroidism|isolated TRH deficiency|thyrotropin-releasing hormone deficiency|isolated prothyroliberin deficiency|hypothalamic hypothyroidism ICD9:253.4|OMIM:275120|Orphanet:238670|ICD10:E03.1|NCIT:C121741|SCTID:10736002 owl:Class HGNC:12298 biolink:NamedThing TRH tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:10372 biolink:NamedThing Human betaherpesvirus 7 tmpak2llvmy_mondo_relaxed.owl Human herpesvirus type 7|Herpes simplex virus 7|human herpesvirus 7 HHV-7|HHV-7|Human herpesvirus 7 GC_ID:1 NCBITaxon:57277 ncbi_taxonomy owl:Class MONDO:0011833 biolink:NamedThing spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. tmpak2llvmy_mondo_relaxed.owl SCA21|spinocerebellar ataxia 21|spinocerebellar ataxia type 21 DOID:0050972|UMLS:C1843891|ICD10:G11.1|OMIM:607454|MESH:C537200|GARD:0009999|UMLS:C4305144|Orphanet:98773|SCTID:718774001 owl:Class GO:0006936 biolink:NamedThing muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8926 biolink:NamedThing PHKA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010929 biolink:NamedThing craniosynostosis 4 Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. tmpak2llvmy_mondo_relaxed.owl ERF craniosynostosis|ERF-related craniosynostosis|craniosynostosis type 4|craniosynostosis caused by mutation in ERF|CRS4|craniosynostosis 4 OMIM:600775|UMLS:C3806917 owl:Class HP:0002883 biolink:NamedThing Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. tmpak2llvmy_mondo_relaxed.owl Rapid breathing UMLS:C0020578|MSH:D006985|SNOMEDCT_US:68978004 human_phenotype owl:Class HGNC:25118 biolink:NamedThing OTULIN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021416 biolink:NamedThing polyp of gallbladder A polyp that involves the gall bladder. tmpak2llvmy_mondo_relaxed.owl polyp of the gallbladder|gallbladder polyp|gall bladder polyp NCIT:C3909|UMLS:C0262493|SCTID:197433003 owl:Class MONDO:0003042 biolink:NamedThing adult mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of adults UMLS:C1332207|DOID:4547|NCIT:C27375 owl:Class MONDO:0014365 biolink:NamedThing spermatogenic failure 13 Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. tmpak2llvmy_mondo_relaxed.owl azoospermia caused by mutation in TAF4B|spermatogenic failure 13|SPGF13|TAF4B azoospermia|spermatogenic failure type 13 OMIM:615841|UMLS:C4014449|DOID:0070182 owl:Class HGNC:11538 biolink:NamedThing TAF4B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012568 biolink:NamedThing osteoarthritis susceptibility 4 tmpak2llvmy_mondo_relaxed.owl osteoarthritis susceptibility 4|osteoarthritis, generalized, without dysplasia|OS4 UMLS:C1835815|OMIM:610839 owl:Class MONDO:0008847 biolink:NamedThing atrichia with papular lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. tmpak2llvmy_mondo_relaxed.owl APL|atrichia with papular lesions|papular atrichia UMLS:C1859592|SCTID:715963002|MESH:C565924|DOID:0060689|ICD10:L65.8|Orphanet:86819|OMIM:209500 owl:Class HGNC:7863 biolink:NamedThing NNT tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19 biolink:NamedThing chr19 (Human) tmpak2llvmy_mondo_relaxed.owl 58617616 0 hg38 owl:Class HGNC:30348 biolink:NamedThing POLR3B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014754 biolink:NamedThing primary coenzyme Q10 deficiency 8 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. tmpak2llvmy_mondo_relaxed.owl primary coenzyme Q10 deficiency 8|coenzyme Q10 deficiency, primary, 8|COQ10D8|coenzyme Q10 deficiency caused by mutation in COQ7|COQ7 coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, type 8 UMLS:C4225226|DOID:0070245|OMIM:616733 owl:Class HGNC:2244 biolink:NamedThing COQ7 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022299 biolink:NamedThing upper eyelid nerve A nerve that innervates an upper eyelid. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010566 biolink:NamedThing Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:400006008|MSH:D006222|SNOMEDCT_US:51398009|UMLS:C0018552 sandra1 2009-10-16T02:51:16Z human_phenotype owl:Class MONDO:0014124 biolink:NamedThing Adams-Oliver syndrome 4 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene. tmpak2llvmy_mondo_relaxed.owl AOS4|Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in EOGT UMLS:C3809092|OMIM:615297 owl:Class HGNC:28526 biolink:NamedThing EOGT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007908 biolink:NamedThing multiple symmetric lipomatosis Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). tmpak2llvmy_mondo_relaxed.owl multiple symmetrical lipomatosis|lipomatosis, familial benign cervical|Launois-Bensaude syndrome|multiple symmetric lipomatosis|Madelung's neck|Madelung disease|Launois-Bensaude lipomatosis|familial benign cervical lipomatosis|cervical symmetrical lipomatosis|Madelung's disease|lipomatosis, multiple symmetric|benign symmetrical lipomatosis|MSL|familial symmetric lipomatosis|lipodystrophy, cephalothoracic|cephalothoracic lipodystrophy|Launois-Bensaude's lipomatosis Orphanet:2398|EFO:1000737|OMIM:151800|UMLS:CN201658|DOID:14116|UMLS:C0024445|GARD:0006957|SCTID:238902007|NCIT:C4392|ICD10:E88.8|UMLS:C0023804 https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis owl:Class OBO:CHR_9606-chr5q35 biolink:NamedThing chr5q35 (Human) tmpak2llvmy_mondo_relaxed.owl 181538259 169000000 hg38 owl:Class MONDO:0014781 biolink:NamedThing combined oxidative phosphorylation deficiency 29 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 29|combined oxidative phosphorylation deficiency caused by mutation in TXN2|TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency 29; COXPD29|COXPD29 DOID:0111501|UMLS:C4225200|OMIM:616811 owl:Class HGNC:8507 biolink:NamedThing OSMR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003264 biolink:NamedThing basosquamous carcinoma A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. tmpak2llvmy_mondo_relaxed.owl skin basosquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|metatypical carcinoma|Basisquamous cell carcinoma|basosquamous tumor, malignant|metatypical carcinoma (morphologic abnormality)|basosquamous carcinoma|basosquamous cell carcinoma EFO:1000529|DOID:5063|ICDO:8094/3|UMLS:C0007118|NCIT:C2922|MESH:D002281 MONDO:0006413 owl:Class MONDO:0006229 biolink:NamedThing gastric small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl STSC|stomach small cell carcinoma|small cell carcinoma of the stomach|Oat cell carcinoma of stomach|small cell carcinoma of stomach|Oat cell carcinoma of the stomach|gastric small cell carcinoma|gastric Oat cell carcinoma|gastric small cell neuroendocrine carcinoma DOID:6552|NCIT:C6764|ONCOTREE:STSC|EFO:1000277|UMLS:C1333788 owl:Class UBERON:0003282 biolink:NamedThing mesentery of heart A mesentery that surrounds the heart. tmpak2llvmy_mondo_relaxed.owl mesocardium|heart mesentery|cardiac mesentery owl:Class Ncac7336cf70a4c049085a4bbc6fae825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0001848 biolink:NamedThing complement binding Binding to a component or product of the complement cascade. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011864 biolink:NamedThing tendon collagen fibril The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13601 biolink:NamedThing FBXL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032606 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 2 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2|MC1DN2 OMIM:618222 owl:Class PR:000007499 biolink:NamedThing fibroblast growth factor 8 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1142 biolink:NamedThing BTNL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001168 biolink:NamedThing spastic hemiplegia A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. tmpak2llvmy_mondo_relaxed.owl spastic hemiplegic cerebral palsy|hemiplegic cerebral palsy|hemiplegic infantile cerebral palsy|congenital hemiplegia NCIT:C116905|SCTID:79633009|UMLS:C0270805|ICD9:342.10|ICD9:343.1|DOID:10967 owl:Class CL:1000486 biolink:NamedThing basal cell of urothelium A basal cell that is part of the urothelium. tmpak2llvmy_mondo_relaxed.owl FMA:84150 cell owl:Class HGNC:12830 biolink:NamedThing XRCC3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C12664 biolink:NamedThing Abdomen tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:5740 biolink:NamedThing Giardia tmpak2llvmy_mondo_relaxed.owl Giardia GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008783 biolink:NamedThing dorsal venous arch The dorsal venous arch of the foot is a superficial vein that connects the small saphenous vein and the great saphenous vein. Anatomically, it is defined by where the dorsal veins of the first and fifth digit, respectively, meet the great saphenous vein and small saphenous vein. tmpak2llvmy_mondo_relaxed.owl dorsal venous arch of foot|arcus venosus dorsalis pedis owl:Class MONDO:0010476 biolink:NamedThing neurodegeneration with brain iron accumulation 5 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. tmpak2llvmy_mondo_relaxed.owl neurodegeneration with brain iron accumulation 5|static encephalopathy of childhood with neurdegeneration in adulthood|NBIA5|neurodegeneration with brain iron accululation 5|SENDA|WDR45 neurodegeneration with brain iron accumulation|beta-propeller protein-associated neurodegeneration|static encephalopathy of childhood with neurodegeneration in adulthood|BPAN|neurodegeneration with brain iron accumulation caused by mutation in WDR45|neurodegeneration with brain iron accumulation type 5|static encephalopathy Of childhood with neurodegeneration In adulthood SCTID:732959007|ICD10:G23.0|UMLS:CN168656|DOID:0110739|GARD:0012570|OMIM:300894|UMLS:C3550973|Orphanet:329284 owl:Class HGNC:28912 biolink:NamedThing WDR45 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016144 biolink:NamedThing qualitative or quantitative defects of delta-sarcoglycan tmpak2llvmy_mondo_relaxed.owl delta-sarcoglycanopathy UMLS:CN072428|Orphanet:207070|GARD:0001799 owl:Class HP:0001959 biolink:NamedThing Polydipsia Excessive thirst manifested by excessive fluid intake. tmpak2llvmy_mondo_relaxed.owl Extreme thirst SNOMEDCT_US:267026004|SNOMEDCT_US:17173007|MSH:D059606|UMLS:C0085602 human_phenotype owl:Class MONDO:0011892 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 9 Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene. tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, type 9|epilepsy, idiopathic generalized, susceptibility to, 9|generalised epilepsy caused by mutation in CACNB4|susceptibility to idiopathic generalized epilepsy 9|EIG9|CACNB4 generalised epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 6 OMIM:607682|DOID:0111323 owl:Class MONDO:0013827 biolink:NamedThing hyperekplexia 3 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. tmpak2llvmy_mondo_relaxed.owl hyperekplexia type 3|hyperekplexia 3|SLC6A5 hereditary hyperekplexia|hereditary hyperekplexia caused by mutation in SLC6A5|HKPX3 DOID:0060698|ICD10:G25.8|OMIM:614618|UMLS:C3553288 owl:Class HGNC:11051 biolink:NamedThing SLC6A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013145 biolink:NamedThing Brugada syndrome 6 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. tmpak2llvmy_mondo_relaxed.owl KCNE3 Brugada syndrome|Brugada syndrome caused by mutation in KCNE3|Brugada syndrome type 6|Brugada syndrome 6|BRGDA6 OMIM:613119|ICD10:I49.8|DOID:0110223|UMLS:C2751089|MESH:C567735 owl:Class PO:0025527 biolink:NamedThing shoot system development stage A collective plant organ structure development stage (PO:0025338) that begins with the onset of the plant organ development stage (PO:0025339) and ends with either gametophyte senescent stage (PO:0025343) or sporophyte senescent stage (PO:0007017) or death. tmpak2llvmy_mondo_relaxed.owl PO_GIT:517 The shoot system (PO:0009006) develops fron the shoot apical meristem (PO:0020148) in the plant embryo (PO:0009009) in vascular plants. In lower plants the gametophore (PO:0030018) arises from a gametophore meristematic apical cell (PO:0030019) in the protonema (PO:0030003). Laurel_Cooper 2012-12-13T18:21:19Z plant_structure_development_stage owl:Class MONDO:0015344 biolink:NamedThing idiopathic acute transverse myelitis Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. tmpak2llvmy_mondo_relaxed.owl ATM/TM Orphanet:139423|ICD10:G37.3 owl:Class MONDO:0014667 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene. tmpak2llvmy_mondo_relaxed.owl CEMCOX3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3|COA5 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3 DOID:0080359|OMIM:616500|UMLS:C4225154 owl:Class UBERON:0005497 biolink:NamedThing non-neural ectoderm tmpak2llvmy_mondo_relaxed.owl ventral ectoderm|non neural ectoderm|epidermal ectoderm|epithelial ectoderm|surface ectoderm owl:Class UBERON:0035036 biolink:NamedThing naris epithelium An epithelium that is part of a naris [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019437 biolink:NamedThing enthesitis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. tmpak2llvmy_mondo_relaxed.owl enthesitis-related arthritis|enthesitis related arthritis, juvenile|juvenile spondylarthropathy|enthesitis-related JIA|juvenile enthesitis-related arthritis|era NCIT:C119024|GARD:0010969|Orphanet:85438|ICD10:M08.8|SCTID:410801005 https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis owl:Class MONDO:0015057 biolink:NamedThing renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl susceptibility to angioedema induced by ace inhibitors|reactive angioendotheliomatosis|RAE|Raas-blocker-induced angioedema|Raas-blocker-induced angioneurotic edema|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema|AEACEI|angioedema induced by ACE inhibitors, susceptibility to ICD10:T78.3|Orphanet:100057|MESH:C535293|GARD:0009445 Editor note: consider separate class for OMIM for predisposition owl:Class MONDO:0024539 biolink:NamedThing choroidal dystrophy, central areolar, 1 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpak2llvmy_mondo_relaxed.owl GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar|choroidal dystrophy, central areolar, 1|CACD1|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal sclerosis OMIM:215500 owl:Class MONDO:0014522 biolink:NamedThing retinal dystrophy and obesity tmpak2llvmy_mondo_relaxed.owl retinal dystrophy and obesity|RDOB UMLS:C4015424|OMIM:616188 owl:Class MONDO:0016734 biolink:NamedThing anaplastic ganglioglioma A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl AGNG ICDO:9505/3|NCIT:C4717|ONCOTREE:AGNG|UMLS:C0431112|Orphanet:251957|GARD:0010639 https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma owl:Class MONDO:0009579 biolink:NamedThing Frank-Ter Haar syndrome Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. tmpak2llvmy_mondo_relaxed.owl megalocornea, multiple skeletal anomalies, and developmental delay|Frank Ter Haar syndrome|Ter Haar syndrome|FTHS|Borrone Dermatocardioskeletal syndrome|Frank-Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|autosomal recessive Melnick-Needles syndrome (formerly)|FRANK-TER Haar syndrome|Melnick-Needles syndrome, autosomal recessive, formerly MESH:C537274|SCTID:720958002|OMIM:249420|GARD:0005138|DOID:0111789|Orphanet:137834|ICD10:Q87.8|UMLS:C1855305 https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome owl:Class HGNC:29242 biolink:NamedThing SH3PXD2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013791 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal recessive tmpak2llvmy_mondo_relaxed.owl thrombophilia due to PROTEIN S deficiency, autosomal recessive|THPH6|thrombophilia due to protein S deficiency, autosomal recessive UMLS:C3281092|OMIM:614514 owl:Class HGNC:10892 biolink:NamedThing SIX6 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010976 biolink:NamedThing B lymphocytopenia An abnormal decrease from the normal count of B cells. tmpak2llvmy_mondo_relaxed.owl Decreased B cell count|B cell lymphopenia|Reduction in B cell number|B cell deficiency|Low B cell count UMLS:C1855067 Plasma B cells differentiate from B cells and secrete large amounts of antibodies. peter 2011-02-06T09:44:11Z HP:0002956 human_phenotype owl:Class MONDO:0012463 biolink:NamedThing retinitis pigmentosa 35 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in SEMA4A|SEMA4A retinitis pigmentosa|retinitis pigmentosa 35|RP 35|RP35|retinitis pigmentosa type 35 ICD10:H35.5|UMLS:C1853214|GARD:0010402|DOID:0110357|OMIM:610282|MESH:C565206 https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35 owl:Class HGNC:10729 biolink:NamedThing SEMA4A tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0005125 biolink:NamedThing cytokine activity The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. tmpak2llvmy_mondo_relaxed.owl autocrine activity|paracrine activity owl:Class CL:0002351 biolink:NamedThing progenitor cell of endocrine pancreas A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. tmpak2llvmy_mondo_relaxed.owl pancreatic islet progenitor cell|pancreatic endocrine progenitor tmeehan 2010-09-21T04:41:06Z cell owl:Class MONDO:0009694 biolink:NamedThing myeloperoxidase deficiency tmpak2llvmy_mondo_relaxed.owl MPOD|myeloperoxidase deficiency|MPO deficiency ICD10:E80.3|SCTID:234433009|GARD:0003868|UMLS:C0398595|ICD9:288.8|MESH:C562864|Orphanet:2587|OMIM:254600 https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency owl:Class HGNC:7218 biolink:NamedThing MPO tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001868 biolink:NamedThing skin of chest A zone of skin that is part of a chest [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl chest zone of skin|chest skin|front of thorax zone of skin|zone of skin of anterior part of thorax|anterolateral part of thorax zone of skin|zone of skin of chest|zone of skin of anterior thoracic region|zone of skin of anterolateral part of thorax|zone of skin of pectoral part of chest|zone of skin of front of thorax|anterior thoracic region zone of skin|zone of skin of anterior chest owl:Class GO:0004339 biolink:NamedThing glucan 1,4-alpha-glucosidase activity Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. tmpak2llvmy_mondo_relaxed.owl gamma-1,4-glucan glucohydrolase activity|lysosomal alpha-glucosidase activity|exo-1,4-alpha-glucosidase activity|glucoamylase activity|gamma-amylase activity|glucose amylase activity|1,4-alpha-D-glucan glucohydrolase activity|amyloglucosidase activity owl:Class MONDO:0014093 biolink:NamedThing retinitis pigmentosa 66 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. tmpak2llvmy_mondo_relaxed.owl RBP3 retinitis pigmentosa|retinitis pigmentosa caused by mutation in RBP3|retinitis pigmentosa 66|RP66|retinitis pigmentosa type 66 DOID:0110393|ICD10:H35.5|OMIM:615233|UMLS:C3715216 owl:Class HGNC:23094 biolink:NamedThing SLC16A12 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24912 biolink:NamedThing LARP7 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000992 biolink:NamedThing Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. tmpak2llvmy_mondo_relaxed.owl Sun sensitivity|Skin photosensitivity|Photosensitive skin|Photosensitivity|Sensitivity to sunlight|Photosensitive skin rashes MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506 HP:0006831|HP:0007538|HP:0005594 human_phenotype owl:Class MONDO:0010832 biolink:NamedThing Bardet-Biedl syndrome 3 tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 3|Bardet-Biedl syndrome type 3|BBS3 ICD10:Q87.89|GARD:0000822|OMIM:600151|UMLS:C1859564|MESH:C537911|DOID:0110125 https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 owl:Class PR:000001809 biolink:NamedThing CD59-like glycoprotein tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14295 biolink:NamedThing SHANK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007594 biolink:NamedThing factor 5 excess with spontaneous thrombosis tmpak2llvmy_mondo_relaxed.owl thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis|Proaccelerin Excess MESH:C565026|OMIM:134400|UMLS:C1851378 owl:Class HP:0011996 biolink:NamedThing Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. tmpak2llvmy_mondo_relaxed.owl Plasma factor V elevated|Elevated factor V activity UMLS:C4021106 peter 2012-07-19T11:40:31Z human_phenotype owl:Class MONDO:0011473 biolink:NamedThing Leber congenital amaurosis 5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene. tmpak2llvmy_mondo_relaxed.owl LCA5|LCA5 Leber congenital amaurosis|amaurosis congenita of Leber, type 5|Leber congenital amaurosis 5|Leber congenital amaurosis type 5|Leber congenital amaurosis caused by mutation in LCA5 UMLS:C1858301|MESH:C536602|ICD10:H35.5|GARD:0009983|OMIM:604537|DOID:0110215 https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5 owl:Class HGNC:31923 biolink:NamedThing LCA5 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010579 biolink:NamedThing manual digit 5 phalanx pre-cartilage condensation A pre-cartilage condensation that is part of a manual digit 5 mesenchyme. tmpak2llvmy_mondo_relaxed.owl manual digit V phalanx pre-cartilage condensation|fore limb digit 5 phalanx pre-cartilage condensation|hand digit 5 phalanx pre-cartilage condensation owl:Class MONDO:0014560 biolink:NamedThing amelogenesis imperfecta type 1F Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta caused by mutation in AMBN|AMBN amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta, type IF|amelogenesis imperfecta, type 1F|AI1F|amelogenesis imperfecta type IF DOID:0110065|UMLS:C4225394|ICD10:K00.5|OMIM:616270 owl:Class MONDO:0014843 biolink:NamedThing premature ovarian failure 11 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. tmpak2llvmy_mondo_relaxed.owl premature ovarian failure type 11|premature ovarian failure 11|ERCC6 primary ovarian failure|primary ovarian failure caused by mutation in ERCC6|POF11|premature ovarian failure 11; POF11 UMLS:C4310783|OMIM:616946 owl:Class MONDO:0007617 biolink:NamedThing Coffin-Siris syndrome 1 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 12|fifth digit syndrome|MRD12|COFFIN-SIRIS syndrome|Coffin-Siris syndrome 1|autosomal dominant mental retardation 12|intellectual disability, autosomal dominant 12|CSS1|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|COFFIN-SIRIS syndrome 1|mental retardation, autosomal dominant type 12|CSS|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features GARD:0009945|UMLS:C3281201|UMLS:CN029606|DOID:0070042|UMLS:C1864967|OMIM:614562|OMIM:135900|OMIM:609943|MESH:C538391 https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features owl:Class GO:1902600 biolink:NamedThing proton transmembrane transport The directed movement of a proton across a membrane. tmpak2llvmy_mondo_relaxed.owl proton transmembrane transport|passive proton transport, down the electrochemical gradient|ATP hydrolysis coupled proton transport|hydrogen ion transmembrane transport|hydrogen transport|proton transport|hydrogen transmembrane transport|hydrogen ion transport owl:Class NCBITaxon:10310 biolink:NamedThing Human alphaherpesvirus 2 tmpak2llvmy_mondo_relaxed.owl Herpes simplex virus (type 2)|Herpes simplex virus type 2|HSV2|Herpes simplex virus type 2 (HSV-2)|Human herpesvirus 2|Herpes simplex virus II|Herpes simplex virus 2|herpes simplex virus type 2 HSV-2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009254 biolink:NamedThing fucosidosis Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. tmpak2llvmy_mondo_relaxed.owl A-fucosidase deficiency|Alpha-L-fucosidase deficiency|lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|fucosidosis|alpha fucosidase deficiency Orphanet:349|NCIT:C61274|OMIM:230000|DOID:14500|UMLS:C0016788|SCTID:64716005|MESH:D005645|GARD:0006473|ICD9:271.8|ICD10:E77.1 https://rarediseases.info.nih.gov/diseases/6473/fucosidosis owl:Class HGNC:4006 biolink:NamedThing FUCA1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:24671 biolink:NamedThing FLAD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014978 biolink:NamedThing preimplantation embryonic lethality 2 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene. tmpak2llvmy_mondo_relaxed.owl preimplantation embryonic lethality 2; PREMBL2|preimplantation embryonic lethality caused by mutation in PADI6|PREMBL2|preimplantation embryonic lethality type 2|preimplantation embryonic lethality 2|PADI6 preimplantation embryonic lethality OMIM:617234|UMLS:C4310659 owl:Class HGNC:20449 biolink:NamedThing PADI6 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6893 biolink:NamedThing MAPT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004290 biolink:NamedThing subglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. tmpak2llvmy_mondo_relaxed.owl verrucous carcinoma of subglottis|subglottic verrucous carcinoma|subglottis verrucous carcinoma|verrucous carcinoma of the subglottis UMLS:C0280330|NCIT:C8190|DOID:7584 owl:Class MONDO:0001237 biolink:NamedThing appendix lymphoma A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. tmpak2llvmy_mondo_relaxed.owl vermiform appendix lymphoma|appendiceal lymphoma|lymphoma of vermiform appendix|lymphoma of appendix|appendix lymphoma|lymphoma of the appendix|primary appendix lymphoma NCIT:C5513|DOID:11241|UMLS:C1332328 owl:Class GO:0032609 biolink:NamedThing interferon-gamma production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. tmpak2llvmy_mondo_relaxed.owl type II interferon production|type II IFN production|interferon-gamma secretion|IFNG production|interferon-gamma biosynthetic process owl:Class HGNC:29937 biolink:NamedThing CCDC65 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015315 biolink:NamedThing neonatal brainstem dysfunction Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:137929|UMLS:CN199283 owl:Class ENVO:00002186 biolink:NamedThing contaminated water tmpak2llvmy_mondo_relaxed.owl polluted water owl:Class MONDO:0000990 biolink:NamedThing acute subendocardial myocardial infarction Acute form of subendocardial myocardial infarction. tmpak2llvmy_mondo_relaxed.owl acute subendocardial infarction|subendocardial myocardial infarction, acute|acute nontransmural infarction|subendocardial infarction acute myocardial infarction ICD9:410.72|ICD9:410.70|ICD9:410.71|ICD9:410.7|SCTID:70422006|DOID:10266|UMLS:C0264710 owl:Class MONDO:0003714 biolink:NamedThing bladder urachal squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl bladder urachal squamous cell carcinoma UMLS:C1511206|NCIT:C39845|DOID:5957 owl:Class UBERON:0011202 biolink:NamedThing urachus epithelium An epithelium that is part of a urachus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010431 biolink:NamedThing Joubert syndrome 10 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. tmpak2llvmy_mondo_relaxed.owl JBTS10|OFD1 Joubert syndrome|Joubert syndrome 10|Joubert syndrome type 10|Joubert syndrome caused by mutation in OFD1 MESH:C567582|DOID:0110981|UMLS:C2749019|OMIM:300804 owl:Class UBERON:0000326 biolink:NamedThing pancreatic juice Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach. tmpak2llvmy_mondo_relaxed.owl pancreatic fluid|pancreatic secretion|succus pancreaticus owl:Class UBERON:0010547 biolink:NamedThing pedal digit 1 metatarsal pre-cartilage condensation A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 1 mesenchyme. tmpak2llvmy_mondo_relaxed.owl hind limb digit 1 metatarsal pre-cartilage condensation|pedal digit I metatarsal pre-cartilage condensation|foot digit 1 metatarsal pre-cartilage condensation|toe 1 metatarsal pre-cartilage condensation owl:Class GO:0003027 biolink:NamedThing regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpak2llvmy_mondo_relaxed.owl carotid body chemoreceptor response to lowering of systemic arterial blood pressure|vagal reflex|carotid body chemoreceptor regulation of systemic arterial blood pressure|regulation of systemic arterial blood pressure by carotid body chemoreceptor signalling owl:Class CHEBI:49023 biolink:NamedThing prostaglandin antagonist A compound that inhibits the action of prostaglandins. tmpak2llvmy_mondo_relaxed.owl prostaglandin inhibitor owl:Class MONDO:0010687 biolink:NamedThing nephrolithiasis, X-linked recessive, with renal failure tmpak2llvmy_mondo_relaxed.owl urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|nephrolithiasis 1|nephrolithiasis, X-linked recessive, type 1|XRN OMIM:310468|MESH:C562901|SCTID:236713006 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations owl:Class GO:0097325 biolink:NamedThing melanocyte proliferation The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4075 biolink:NamedThing GABRA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013202 biolink:NamedThing Waardenburg syndrome type 4C A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome type 4C|Waardenburg syndrome type IVC|Waardenburg syndrome with Hirschsprung disease type 4C|Waardenburg syndrome with Hirschsprung disease, type 4C|WS4C|Waardenburg syndrome, type 4C DOID:0110955|MESH:C567679|OMIM:613266|UMLS:C2750452 owl:Class ENVO:01000305 biolink:NamedThing high temperature environment A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008833 biolink:NamedThing renal-hepatic-pancreatic dysplasia 1 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. tmpak2llvmy_mondo_relaxed.owl NPHP3 renal-hepatic-pancreatic dysplasia|RHPD1|Rhpd|renal-hepatic-pancreatic dysplasia type 1|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|renal-hepatic-pancreatic dysplasia 1 UMLS:C3715199|OMIM:208540 owl:Class HGNC:7907 biolink:NamedThing NPHP3 tmpak2llvmy_mondo_relaxed.owl owl:Class NCIT:C19085 biolink:NamedThing Sexual Transmission tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010474 biolink:NamedThing linear skin defects with multiple congenital anomalies 2 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene. tmpak2llvmy_mondo_relaxed.owl LSDMCA2|COX7B microphthalmia with linear skin defects syndrome|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|linear skin defects with multiple congenital anomalies 2|linear skin defects with multiple congenital anomalies type 2|microphthalmia with linear skin defects syndrome caused by mutation in COX7B UMLS:C3550921|OMIM:300887 owl:Class HGNC:11055 biolink:NamedThing SLC6A8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002540 biolink:NamedThing childhood oligodendroglioma An oligodendroglioma that arises from the central nervous system and occurs during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric oligodendroglioma|oligodendroglioma of childhood|oligodendroglioma DOID:3183|NCIT:C4045|UMLS:C0280475 owl:Class UBERON:0001725 biolink:NamedThing cranial synchondrosis The cartilaginous joints of the skull; these include sphenoethmoidal synchondrosis, sphenooccipital synchondrosis, sphenopetrosal synchondrosis, petrooccipital synchondrosis, anterior intraoccipital synchondrosis and posterior intraoccipital synchondrosis. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18618 biolink:NamedThing LRRK2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0046110 biolink:NamedThing xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. tmpak2llvmy_mondo_relaxed.owl xanthine metabolism owl:Class HGNC:4976 biolink:NamedThing HLCS tmpak2llvmy_mondo_relaxed.owl owl:Class Nedd1e4ddd7964c26b69a63e22593786c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:16512 biolink:NamedThing BSND tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004621 biolink:NamedThing upper lip cancer A malignant neoplasm involving the upper lip. tmpak2llvmy_mondo_relaxed.owl malignant upper lip neoplasm|malignant neoplasm of upper lip|upper lip cancer|cancer of upper lip ICD10:C00.3|ICD10:C00.0|ICD9:140.0|DOID:8630|ICD9:140.3 owl:Class HP:0000999 biolink:NamedThing Pyoderma Any manifestation of a skin disease associated with the production of pus. tmpak2llvmy_mondo_relaxed.owl Pus-filled lesion UMLS:C0034212|SNOMEDCT_US:70759006|MSH:D011711 Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. human_phenotype owl:Class HGNC:9115 biolink:NamedThing PMM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009783 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|POLG autosomal recessive progressive external ophthalmoplegia|arPEO|cerebellar ataxia infantile with progressive external ophthalmoplegia|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG|PEOB1|autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with cerebellar ataxia infantile UMLS:C4225153|OMIM:258450|DOID:0111522|GARD:0001191 https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1 owl:Class OBO:CHR_9606-chr14q32.2 biolink:NamedThing chr14q32.2 (Human) tmpak2llvmy_mondo_relaxed.owl 100900000 95800000 hg38 owl:Class MONDO:0015912 biolink:NamedThing macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. tmpak2llvmy_mondo_relaxed.owl MYH9-related disease|MYH9-RD|Sebastian syndrome|Dohle leukocyte inclusions with giant platelets|MYH9-related syndromic thrombocytopenia|Sebastian Platelet syndrome|macrothrombocytopenia progressive deafness|bleeding disorder, Platelet-type, 6|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|Alport syndrome with macrothrombocytopenia|macrothrombocytopenia, nephritis, and deafness|Fechtner syndrome|FTNS|Sebastian platelet syndrome|giant platelet syndrome with thrombocytopenia|macrothrombocytopenia with leukocyte inclusions|MYH-9 related disease|MYH9-related disorder|MYH9 related disorders|MYH9 related thrombocytopenia|macrothrombocytopenia with dispersed leukocytic inclusions|Brodie Chole griffin syndrome|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|matins|May-Hegglin anomaly|Alport syndrome with macrothrombocytopenia, formerly|MHA|SBS|MYH9-related syndrome|Epstein syndrome|May-Hegglin thrombocytopenia|macrothrombocytopenia and progressive sensorineural deafness UMLS:CN226270|SCTID:234484005|OMIM:155100|MESH:C537831|SCTID:712922002|ICD9:582.89|Orphanet:182050|OMIM:605249|UMLS:C1834478|Orphanet:1019|SCTID:236422008|OMIM:153640|ICD9:287.33|UMLS:C0398641|NCIT:C131639|UMLS:C0403445|NCIT:C131650|ICD10:D69.4|OMIM:600208|Orphanet:807|UMLS:CN226030|NCIT:C131646|DOID:0060651|GARD:0000179|Orphanet:850|UMLS:CN226018|ICD9:759.89|SCTID:234485006|NCIT:C131642|GARD:0000180|Orphanet:1984 https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia owl:Class HGNC:2718 biolink:NamedThing DDB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2027 biolink:NamedThing CLCNKB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012745 biolink:NamedThing dilated cardiomyopathy 1Z Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpak2llvmy_mondo_relaxed.owl CMD1Z|familial isolated dilated cardiomyopathy caused by mutation in TNNC1|dilated cardiomyopathy type 1Z|TNNC1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1Z|cardiomyopathy, dilated, type 1Z MESH:C567506|UMLS:C2678475|OMIM:611879|ICD10:I42.0|DOID:0110434 owl:Class N82eb5b84cadd40c4a9410f527b011c9b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ECTO:9001822 biolink:NamedThing exposure to antagonist An exposure to antagonist. tmpak2llvmy_mondo_relaxed.owl exposure to antagonist owl:Class HGNC:6176 biolink:NamedThing ITPA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004602 biolink:NamedThing glutathione peroxidase activity Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. tmpak2llvmy_mondo_relaxed.owl selenium-glutathione peroxidase activity|GSH peroxidase activity|non-selenium glutathione peroxidase activity|reduced glutathione peroxidase activity|glutathione:hydrogen-peroxide oxidoreductase activity owl:Class HGNC:8021 biolink:NamedThing NT5E tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004829 biolink:NamedThing urethra skeletal muscle tissue A portion of skeletal muscle tissue that is part of a urethra [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl urethra skeletal muscle|skeletal muscle tissue of urethra|skeletal muscle of urethra|urethra skeletal muscle tissue|urethral skeletal muscle owl:Class MONDO:0014696 biolink:NamedThing cerebrooculofacioskeletal syndrome 3 tmpak2llvmy_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 3|cerebrooculofacioskeletal syndrome 3|COFS3 OMIM:616570|MESH:C565035|UMLS:C1851443 owl:Class MONDO:0008555 biolink:NamedThing thrombocytopenia 2 An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. tmpak2llvmy_mondo_relaxed.owl thrombocytopenia 2|THC2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia, autosomal dominant, 2 OMIM:188000|NCIT:C129035|GARD:0005191|MESH:C536519 https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2 owl:Class GO:0008301 biolink:NamedThing DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. tmpak2llvmy_mondo_relaxed.owl DNA bending activity|DNA bending involving DNA binding owl:Class MONDO:0015566 biolink:NamedThing 2q24 microdeletion syndrome 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. tmpak2llvmy_mondo_relaxed.owl chromosome 2q24 microdeletion syndrome|monosomy 2q24|deletion 2q24|Del(2)(q24)|2q24 deletion MESH:C538316|GARD:0003746|Orphanet:1617|UMLS:CN036809|SCTID:719658006|ICD10:Q93.5 owl:Class HGNC:4886 biolink:NamedThing HFE tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9069 biolink:NamedThing PLEC tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060786 biolink:NamedThing regulation of cell differentiation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014660 biolink:NamedThing microcephaly 15, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH15|microcephaly 15, primary, autosomal recessive UMLS:C4225310|DOID:0070277|OMIM:616486 owl:Class HGNC:25897 biolink:NamedThing MFSD2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013758 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease dominant intermediate type E|Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|CMTDIE|Charcot-Marie-Tooth disease-nephropathy syndrome|Charcot-Marie-Tooth disease, dominant Intermediate type E|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease dominant intermediate E SCTID:722294004|UMLS:C4302667|ICD10:G60.0|GARD:0012011|UMLS:C3280845|OMIM:614455|Orphanet:93114|DOID:0110205 Not in the OMIM series. owl:Class CHEBI:35640 biolink:NamedThing adrenergic uptake inhibitor Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin. tmpak2llvmy_mondo_relaxed.owl adrenergic reuptake inhibitors|ARI|NERI|norepinephrine reuptake inhibitors|norepinephrine reuptake inhibitor|NRI|adrenergic reuptake inhibitor|adrenergic uptake inhibitors owl:Class UBERON:0036267 biolink:NamedThing vulval vein tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11135 biolink:NamedThing Feline infectious peritonitis virus tmpak2llvmy_mondo_relaxed.owl FIPV GC_ID:1 ncbi_taxonomy owl:Class N5b3bf8b08aa04c1ba733d2774db4242e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002641 biolink:NamedThing subclavian artery aneurysm A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm. tmpak2llvmy_mondo_relaxed.owl ICD9:442.82|DOID:342|UMLS:C0155746|SCTID:40136003 Editor note: consider moving to HPO owl:Class HGNC:11577 biolink:NamedThing TAZ tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1674 biolink:NamedThing CD3E tmpak2llvmy_mondo_relaxed.owl owl:Class N60972149488b4839a672c672320224d6 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11620 biolink:NamedThing Lassa mammarenavirus tmpak2llvmy_mondo_relaxed.owl Lassa virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006535 biolink:NamedThing skin secretion A portion of organism substance that secreted_by a zone of skin. tmpak2llvmy_mondo_relaxed.owl skin fluid|skin fluid/secretion|skin substance owl:Class MONDO:0014374 biolink:NamedThing nephronophthisis 18 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis 18|nephronophthisis type 18|NPHP18|nephronophthisis (disease) caused by mutation in CEP83|CEP83 nephronophthisis (disease) OMIM:615862|UMLS:C3890591|DOID:0111125 owl:Class MONDO:0000543 biolink:NamedThing ovarian melanoma A melanoma (disease) that involves the ovary. tmpak2llvmy_mondo_relaxed.owl ovary metastatic melanoma|ovary melanoma (disease)|melanoma (disease) of ovary|metastatic melanoma of ovary DOID:0050928 owl:Class MONDO:0013179 biolink:NamedThing hereditary spastic paraplegia 44 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|autosomal recessive spastic paraplegia type 44|SPG44|GJC2 autosomal recessive complex spastic paraplegia|spastic paraplegia 44, autosomal recessive|hereditary spastic paraplegia type 44 SCTID:723821002|ICD10:G11.4|UMLS:C2750784|Orphanet:320401|DOID:0110796|OMIM:613206|MESH:C567707 owl:Class MONDO:0009919 biolink:NamedThing peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. tmpak2llvmy_mondo_relaxed.owl pseudo-neonatal adrenoleukodystrophy|pseudo-NALD|ACOX1 deficiency|peroxisomal acyl-coenzyme A oxidase|peroxisomal acyl-CoA oxidase deficiency|straight-chain acyl-Coa oxidase deficiency|Pseudoneonatal adrenoleukodystrophy|Pseudoadrenoleukodystrophy Orphanet:2971|DOID:0050797|UMLS:C1849678|GARD:0004543|MESH:C536662|ICD10:E71.3|SCTID:238069004|ICD9:255.41|OMIM:264470 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0010916 biolink:NamedThing polycystic kidney disease 3 with or without polycystic liver disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. tmpak2llvmy_mondo_relaxed.owl Pkd3|polycystic kidney disease 3 with or without polycystic liver disease|GANAB autosomal dominant polycystic kidney disease|Apkd3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|polycystic kidney disease, type 3|polycystic kidney disease type 3|polycystic kidney disease 3, autosomal dominant|PKD3|polycystic kidney disease 3|polycystic kidney disease, adult, type III|polycystic kidney disease, adult, type 3 DOID:0110860|UMLS:C3887964|OMIM:600666 owl:Class HGNC:4138 biolink:NamedThing GANAB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014287 biolink:NamedThing short-rib thoracic dysplasia 11 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 11 with or without polydactyly|SRTD11 ICD10:Q77.2|UMLS:C3810200|DOID:0110095|OMIM:615633 owl:Class HGNC:28296 biolink:NamedThing DYNC2I2 tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001013 biolink:NamedThing integrin alpha-X tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:590 biolink:NamedThing Salmonella tmpak2llvmy_mondo_relaxed.owl PMID:15653929|PMID:10319519|PMID:12072558|PMID:10939679|PMID:9731304|GC_ID:11|PMID:3231714|PMID:15653930 ncbi_taxonomy owl:Class HGNC:16356 biolink:NamedThing USH1G tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19440 biolink:NamedThing SBDS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020734 biolink:NamedThing erythrocyte AMP deaminase deficiency tmpak2llvmy_mondo_relaxed.owl erythrocyte AMP deaminase deficiency UMLS:C2752073|OMIM:612874 owl:Class HGNC:470 biolink:NamedThing AMPD3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16999 biolink:NamedThing CLP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009454 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 1 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. tmpak2llvmy_mondo_relaxed.owl ICF1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|centromeric instability, immunodeficiency syndrome|immunodeficiency syndrome, variable|ICF syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090008|OMIM:242860|NCIT:C156430|ICD10:D84.8 owl:Class HGNC:2979 biolink:NamedThing DNMT3B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014021 biolink:NamedThing familial episodic pain syndrome with predominantly upper body involvement tmpak2llvmy_mondo_relaxed.owl episodic pain syndrome, familial, 1|FEPS1|episodic pain syndrome, familial, type 1 Orphanet:391389|UMLS:C3808667|ICD10:M79.6|OMIM:615040|UMLS:CN204968 owl:Class MONDO:0013072 biolink:NamedThing Emery-Dreifuss muscular dystrophy 5, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|EMERY-Dreifuss muscular dystrophy 5, autosomal dominant|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|EDMD5|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy DOID:0070250|UMLS:C2751805|OMIM:612999 owl:Class GO:0007010 biolink:NamedThing cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpak2llvmy_mondo_relaxed.owl cytoskeleton organization and biogenesis|cytoskeleton organisation|cytoskeletal organization and biogenesis|cytoskeletal regulator activity owl:Class MONDO:0013491 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability tmpak2llvmy_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability|MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation OMIM:613926|DOID:0080317|UMLS:C3151356 owl:Class NCBITaxon:6248 biolink:NamedThing Strongyloides stercoralis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:17158 biolink:NamedThing PLD3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23216 biolink:NamedThing ZNF469 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060082 biolink:NamedThing eye blink reflex The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing. tmpak2llvmy_mondo_relaxed.owl nictitating membrane reflex owl:Class MONDO:0100279 biolink:NamedThing peroxisome biogenesis disorder due to PEX11B defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. tmpak2llvmy_mondo_relaxed.owl PEX11B related peroxisome biogenesis disorder|peroxisome biogenesis disorder due to PEX11B defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class Na3bfa312002c4f919ec80f1871620ab7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0005965 biolink:NamedThing outflow part of right atrium Outflow part of atrium which consists of wall and cavity of the outflow part of right atrium and the tricuspid valve.[FMA] tmpak2llvmy_mondo_relaxed.owl outflow tract of right atrium|main part of right atrium owl:Class CL:1000332 biolink:NamedThing serous cell of epithelium of terminal bronchiole A serous secreting cell that is part of the epithelium of terminal bronchiole. tmpak2llvmy_mondo_relaxed.owl FMA:263082 cell owl:Class NCBITaxon:1773 biolink:NamedThing Mycobacterium tuberculosis tmpak2llvmy_mondo_relaxed.owl Mycobacterium tuberculosis variant tuberculosis|Mycobacterium tuberculosis typus humanus|Bacillus tuberculosis|Bacterium tuberculosis|Mycobacterium tuberculosis var. hominis PMID:29205127|GC_ID:11 NCBITaxon:2528440 ncbi_taxonomy owl:Class HGNC:11957 biolink:NamedThing MED12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019921 biolink:NamedThing paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. tmpak2llvmy_mondo_relaxed.owl paternal uniparental disomy of chromosome type 6|UPD(6)pat Orphanet:96191|ICD10:Q99.8 owl:Class NCBITaxon:5498 biolink:NamedThing Cladosporium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:1685474 ncbi_taxonomy owl:Class MONDO:0012136 biolink:NamedThing carnitine palmitoyl transferase II deficiency, neonatal form The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. tmpak2llvmy_mondo_relaxed.owl CPT 2 deficiency, lethal neonatal|CPT2, lethal systemic form|carnitine palmitoyl transferase II deficiency, neonatal form|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|Cpt2 deficiency, lethal neonatal|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, neonatal|Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPTII, neonatal form|CPTII, lethal systemic form|CPT2, neonatal form|Carnitine Palmitoyltransferase 2 deficiency, antenatal Orphanet:228308|MESH:C563463|UMLS:C1833518|ICD10:E71.3|OMIM:608836 owl:Class MONDO:0100228 biolink:NamedThing LAMA2-related muscular dystrophy Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. tmpak2llvmy_mondo_relaxed.owl LAMA2-related muscular dystrophy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014984 biolink:NamedThing lung disease, immunodeficiency, and chromosome breakage syndrome; tmpak2llvmy_mondo_relaxed.owl lung disease, immunodeficiency, and chromosome breakage syndrome|LICS UMLS:C4310653|OMIM:617241 owl:Class NCBITaxon:69826 biolink:NamedThing Ornithodoros savignyi tmpak2llvmy_mondo_relaxed.owl Argas savignyi GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011693 biolink:NamedThing glaucoma, normal tension, susceptibility to tmpak2llvmy_mondo_relaxed.owl NTG|glaucoma, normal tension, susceptibility to|glaucoma, normal pressure, susceptibility to OMIM:606657 owl:Class MONDO:0022851 biolink:NamedThing Dennis-Fairhurst-Moore syndrome A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl Hallermam Streiff like syndrome|Dennis Fairhurst Moore syndrome GARD:0000290|MESH:C538210|Orphanet:2109 https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome owl:Class MONDO:0016595 biolink:NamedThing inhalational anthrax A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. tmpak2llvmy_mondo_relaxed.owl pulmonary anthrax|respiratory anthrax disease|wool-sorters' disease|respiratory anthrax|inhalation anthrax disease|inhalation anthrax|woolsorters' disease ICD10:A22.1|DOID:0050160|MedDRA:10035667|Orphanet:247257|UMLS:C0155866|SCTID:11389007|MESH:C571912|ICD9:022.1 owl:Class N6e46734df8ad43f69b5b4e9e4e98c301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:6772 biolink:NamedThing SMAD6 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35143 biolink:NamedThing hemoglobin tmpak2llvmy_mondo_relaxed.owl haemoglobin|vertebrate haemoglobin|hemoglobin owl:Class MONDO:0060554 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 1 tmpak2llvmy_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome 1|VCRL1|3-hydroxyanthranilic acidemia|congenital NAD deficiency Disorder 1 UMLS:C4540004|OMIM:617660 owl:Class ENVO:01001286 biolink:NamedThing slate dust Dust which is primarily composed of slate particles. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000274 biolink:NamedThing slate Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012144 biolink:NamedThing Waardenburg syndrome type 2D Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome type 2 caused by mutation in SNAI2|Waardenburg syndrome, type 2D|WS2D|SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type IID DOID:0110952|MESH:C563839|OMIM:608890|UMLS:C1837203 owl:Class HGNC:11094 biolink:NamedThing SNAI2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030343 biolink:NamedThing vitamin D3 25-hydroxylase activity Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. tmpak2llvmy_mondo_relaxed.owl cholecalciferol 25-hydroxylase activity owl:Class HP:0002015 biolink:NamedThing Dysphagia Difficulty in swallowing. tmpak2llvmy_mondo_relaxed.owl Swallowing difficulty|Poor swallowing|Deglutition disorder|Difficulty swallowing|Swallowing difficulties MSH:D003680|SNOMEDCT_US:288939007|SNOMEDCT_US:40739000|UMLS:C0011168|MEDDRA:10013950 HP:0002569 human_phenotype owl:Class MONDO:0009431 biolink:NamedThing hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. tmpak2llvmy_mondo_relaxed.owl hypophosphatemic rickets with hypercalciuria, hereditary|hypercalciuric rickets|HHRH|hypercalciuric hypophosphatemic rickets|hypophosphatemic hypercalciuric rickets SCTID:237891005|Orphanet:157215|ICD10:E83.3|DOID:0050947|OMIM:241530|NCIT:C131450|UMLS:C1853271|MESH:C562793 owl:Class HP:0000074 biolink:NamedThing Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. tmpak2llvmy_mondo_relaxed.owl Ureteropelvic junction stenosis|Pelviureteric junction obstruction MSH:C537373|SNOMEDCT_US:95575002|UMLS:C0521619 human_phenotype owl:Class HGNC:5125 biolink:NamedThing HOXC13 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:633 biolink:NamedThing Yersinia pseudotuberculosis tmpak2llvmy_mondo_relaxed.owl Pasteurella lymphangitidis|Bacterium pseudotuberculosis|Shigella pseudotuberculosis|Bacillus pseudotuberkulosis|Pasteurella pseudotuberculosis GC_ID:11|PMID:2223608|PMID:23919959 NCBITaxon:1161941 ncbi_taxonomy owl:Class GO:0031667 biolink:NamedThing response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000375 biolink:NamedThing bronchus carcinoma in situ A carcinoma in situ involving a bronchus. tmpak2llvmy_mondo_relaxed.owl bronchus in situ carcinoma|carcinoma in situ of bronchus|stage 0 bronchus carcinoma UMLS:C2939445|DOID:0050614|SCTID:92557009 owl:Class MONDO:0011159 biolink:NamedThing autosomal dominant nonsyndromic deafness 13 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|deafness, autosomal dominant 13|autosomal dominant nonsyndromic deafness type 13|deafness, autosomal dominant type 13|DFNA13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 13 UMLS:C1866095|ICD10:H90.3|MESH:C566612|OMIM:601868|DOID:0110545 owl:Class Ne98f5bca8ea54371a26f5d9b68d6cfa3 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N428ef462bd8b4c8683cc88fbdee45140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009397 biolink:NamedThing neonatal severe primary hyperparathyroidism Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. tmpak2llvmy_mondo_relaxed.owl neonatal severe hyperparathyroidism|hyperparathyroidism, neonatal severe primary|Nsph|NSHPT|hyperparathyroidism, neonatal severe MESH:C563375|Orphanet:417|NCIT:C131853|ICD10:E21.0|GARD:0002838|UMLS:C1832615|OMIM:239200|SCTID:715218009 owl:Class MONDO:0010860 biolink:NamedThing autosomal recessive nonsyndromic deafness 3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 3|deafness, autosomal recessive 3|autosomal recessive nonsyndromic deafness 3|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|neurosensory nonsyndromic recessive deafness 3|NRSD3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|DFNB3|deafness, autosomal recessive type 3|MYO15A autosomal recessive nonsyndromic deafness DOID:0110488|ICD10:H90.3|OMIM:600316|UMLS:C1838263|MESH:C563961 owl:Class HGNC:7594 biolink:NamedThing MYO15A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003254 biolink:NamedThing cardiac granular cell neoplasm A very rare granular cell tumor that arises from the heart. tmpak2llvmy_mondo_relaxed.owl granular cell neoplasm of heart|granular cell tumor of heart|heart granular cell tumor|granular cell tumor of the heart|granular cell neoplasm of the heart|Cardiac granular cell neoplasm|Cardiac granular cell tumor DOID:5044|NCIT:C5360|UMLS:C1332845 owl:Class MONDO:0010235 biolink:NamedThing X-linked intellectual disability-psychosis-macroorchidism syndrome tmpak2llvmy_mondo_relaxed.owl mental retardation psychosis macroorchidism|mental retardation, X-linked, with spasticity|MRXS13|X-linked mental retardation 79|intellectual disability, X-linked 79|mental retardation, X-linked 79|mental retardation with psychosis, pyramidal signs, and macroorchidism|PPM-X|Lindsay-Burn syndrome|intellectual disability, X-linked, syndromic 13|intellectual disability, X-linked, syndromic type 13|X-linked intellectual disability with spasticity|X-linked mental retardation with spasticity|intellectual deficit, X-linked - psychosis - macroorchidism|intellectual disability with psychosis, pyramidal signs, and macroorchidism|intellectual disability, X-linked, with spasticity|PPM-X syndrome|mental retardation, X-linked, syndromic type 13|intellectual disability psychosis macroorchidism|mental retardation, X-linked, syndromic 13|mental retardation, X-linked 16|X-linked intellectual disability 79|intellectual disability, X-linked 16 ICD10:F71.1|GARD:0003506|DOID:0060827|OMIM:300055|Orphanet:3077|ICD9:758.89|SCTID:702356009 https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome owl:Class HGNC:6990 biolink:NamedThing MECP2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005966 biolink:NamedThing outflow part of left atrium An outflow tract of atrium that is part of a left atrium. tmpak2llvmy_mondo_relaxed.owl outflow tract of left atrium|main part of left atrium owl:Class HGNC:11194 biolink:NamedThing SOX18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007424 biolink:NamedThing autosomal dominant nonsyndromic deafness 1 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 1|DFNA1|deafness, autosomal dominant 1, with or without thrombocytopenia|deafness, autosomal dominant type 1|DIAPH1 autosomal dominant nonsyndromic deafness|LFHL1|deafness, autosomal dominant 1|Konigsmark syndrome|autosomal dominant deafness 1|hereditary Low frequency hearing loss|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|hereditary low frequency hearing loss 1|deafness, progressive Low tone UMLS:C1852282|OMIM:124900|DOID:0110541|MESH:C565121|ICD10:H90.3 owl:Class MONDO:0012369 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 6|SLEB6 OMIM:609939 owl:Class HGNC:12362 biolink:NamedThing TSC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018714 biolink:NamedThing primary intralymphatic angioendothelioma An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation. tmpak2llvmy_mondo_relaxed.owl papillary intralymphatic angioendothelioma|malignant endothelial papillary angioendothelioma|papillary Endovascular angioendothelioma|Dabska tumor|pila ICD10:D18.0|Orphanet:458768|UMLS:CN242194|NCIT:C7526|ICDO:9135/1 owl:Class PO:0025338 biolink:NamedThing collective plant organ structure development stage A plant structure development stage (PO:0009012) that has as primary participant a collective plant structure (PO:0025497). tmpak2llvmy_mondo_relaxed.owl 集合的植物構造の発生過程 (Japanese, exact)|etapa de desarrollo de una estructura colectiva de la planta (Spanish, exact) PO_GIT:391 Includes flower development stage (PO:0007615), corolla development stage (PO:0007604), and inflorescence development stage (PO:0001083). rwalls 2011-10-19T11:12:49Z plant_structure_development_stage owl:Class UBERON:0002805 biolink:NamedThing right limbic lobe A limbic lobe that is part of a right cerebral hemisphere. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6055 biolink:NamedThing IMPG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044682 biolink:NamedThing MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome tmpak2llvmy_mondo_relaxed.owl MYBPC1-related autosomal recessive non-lethal AMC syndrome Orphanet:498693 owl:Class MONDO:0013882 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 2 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. tmpak2llvmy_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome type 2|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO|PIGO hyperphosphatasia-intellectual disability syndrome|HPMRS2|glycosylphosphatidylinositol biosynthesis defect 6|hyperphosphatasia with intellectual disability syndrome 2|hyperphosphatasia with mental retardation syndrome 2 OMIM:614749|UMLS:C3553637 owl:Class UBERON:0011131 biolink:NamedThing intermetacarpal joint A skeletal joint that connects two adjacent metacarpals[FMA,modified]. tmpak2llvmy_mondo_relaxed.owl intermetacarpal articulation|intermetacarpal owl:Class MONDO:0044956 biolink:NamedThing paranasal sinus mucoepidermoid carcinoma A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. tmpak2llvmy_mondo_relaxed.owl paranasal sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of accessory sinus|mucoepidermoid carcinoma of the paranasal sinus|mucoepidermoid carcinoma of paranasal sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the accessory sinus NCIT:C6018 owl:Class MONDO:0013729 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 3 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene. tmpak2llvmy_mondo_relaxed.owl pregnancy loss, recurrent, susceptibility to, 3|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|RPRGL3|pregnancy loss, recurrent, susceptibility to, type 3|ANXA5 pregnancy loss, recurrent, susceptibility OMIM:614391 owl:Class HGNC:543 biolink:NamedThing ANXA5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006769 biolink:NamedThing gastroparesis Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. tmpak2llvmy_mondo_relaxed.owl gastroparesis syndrome|gastroparesis|gastroparalysis|gastroparesis (disease)|gastric atonia gastroparesis (disease) ICD10:K31.84|ICD9:536.3|HP:0002578|MESH:D018589|SCTID:196753007|DOID:11914|UMLS:C0152020|MedDRA:10018043|EFO:1000948 owl:Class MONDO:0013990 biolink:NamedThing pontocerebellar hypoplasia type 8 A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 8|pontocerebellar hypoplasia due to CHMP1A mutation|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|pontocerebellar hypoplasia type 8|PCH8|CHMP1A non-syndromic pontocerebellar hypoplasia OMIM:614961|ICD10:Q04.3|Orphanet:324569|SCTID:718611007|DOID:0060277|UMLS:C3554209 owl:Class HGNC:8740 biolink:NamedThing CHMP1A tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:523103 biolink:NamedThing Trichophyton mentagrophytes tmpak2llvmy_mondo_relaxed.owl Arthroderma vanbreuseghemii|Spiralia mentagrophytes|Microides mentagrophytes|Ectotrichophyton mentagrophytes|Ctenomyces mentagrophytes|Microsporum mentagrophytes GC_ID:1 NCBITaxon:63407 ncbi_taxonomy owl:Class UBERON:0008243 biolink:NamedThing upper back muscle A muscle of back that is part of a dorsal thoracic segment of trunk. tmpak2llvmy_mondo_relaxed.owl owl:Class N0f33d1691173487a9a53feaace3fceea biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nb38d2748a5d14d989ec898404a877f2f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:2396 biolink:NamedThing CRYBA4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004521 biolink:NamedThing adult epithelioid sarcoma An epithelioid sarcoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl epithelioid sarcoma of adults|adult epithelioid sarcoma|epithelioid sarcoma UMLS:C0279545|DOID:8282|NCIT:C7944 owl:Class GO:0006778 biolink:NamedThing porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. tmpak2llvmy_mondo_relaxed.owl porphyrin metabolic process|porphyrin metabolism owl:Class HGNC:1962 biolink:NamedThing CHRNB2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003393 biolink:NamedThing mesentery of urinary system A mesentery that is part of a urinary system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mesentery of renal system|urinary system mesentery|mesentery of systema urinaria|excretory system mesentery|systema urinaria mesentery|mesentery of excretory system|renal system mesentery owl:Class MONDO:0042727 biolink:NamedThing sacrococcygeal teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. tmpak2llvmy_mondo_relaxed.owl pre-sacral teratoma|presacral teratoma|sacrococcygeal teratoma SCTID:281561000|HP:0030736|GARD:0000319|NCIT:C99055|Orphanet:494421|UMLS:C0559459 owl:Class PR:000001925 biolink:NamedThing scavenger receptor cysteine-rich type 1 protein M130 tmpak2llvmy_mondo_relaxed.owl owl:Class N6a6a8906012f4148be6c157beec3405e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HsapDv:0000096 biolink:NamedThing 2-year-old human stage Child stage that refers to a child who is over 2 and under 3 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9059 biolink:NamedThing PLCB4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010816 biolink:NamedThing Qazi Markouizos syndrome Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. tmpak2llvmy_mondo_relaxed.owl hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|Puertorican infant hypotonia syndrome|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|Dysharmonic skeletal maturation muscular fibre disproportion|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion|Qazi-Markouizos syndrome UMLS:C2931142|ICD10:Q87.8|MESH:C536259|Orphanet:3010|GARD:0000371|DOID:0050740|SCTID:721887007|OMIM:600096 https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome owl:Class UBERON:0001246 biolink:NamedThing interlobular bile duct The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. tmpak2llvmy_mondo_relaxed.owl interlobular ductule owl:Class MONDO:0006512 biolink:NamedThing estrogen-receptor positive breast cancer A subtype of breast cancer that is estrogen-receptor positive tmpak2llvmy_mondo_relaxed.owl estrogen receptor positive breast cancer|ER+ breast cancer EFO:1000649|DOID:0060075 owl:Class MONDO:0008047 biolink:NamedThing episodic ataxia type 1 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. tmpak2llvmy_mondo_relaxed.owl hereditary paroxysmal ataxia with neuromyotonia|familial paroxysmal kinesigenic ataxia and continuous myokymia|myokymia 1|myokymia with periodic ataxia|episodic ataxia, type 1|episodic ataxia with myokymia|ataxia, episodic, with myokymia|EA1|acetazolamide-responsive periodic ataxia|hereditary episodic ataxia caused by mutation in KCNA1|Isaacs-Mertens syndrome|continuous muscle fiber activity|myokymia 1 with or without hypomagnesemia|KCNA1 hereditary episodic ataxia|paroxysmal ataxia with neuromyotonia, hereditary|continuous muscle fiber activity, hereditary UMLS:CN042654|UMLS:C1719788|Orphanet:37612|ICD10:G11.8|DOID:0050989|SCTID:421182009|OMIM:160120 owl:Class MONDO:0011828 biolink:NamedThing intellectual disability, autosomal recessive 2 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 2A|mental retardation, autosomal recessive 2|mental retardation, autosomal recessive type 2|MRT2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|intellectual disability, autosomal recessive 2A|intellectual disability, autosomal recessive 2|CRBN autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 2 UMLS:C1843942|MESH:C564404|OMIM:607417 owl:Class HGNC:30185 biolink:NamedThing CRBN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012025 biolink:NamedThing branchiootic syndrome 3 Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene. tmpak2llvmy_mondo_relaxed.owl branchiootic syndrome 3|BOS3|SIX1 branchiootic syndrome|bo syndrome 3|branchiootic syndrome type 3|branchiootic syndrome caused by mutation in SIX1 UMLS:C1842124|MESH:C564248|OMIM:608389 owl:Class GO:1901148 biolink:NamedThing gene expression involved in extracellular matrix organization Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. tmpak2llvmy_mondo_relaxed.owl extracellular matrix protein production|expression of extracellular matrix proteins owl:Class MONDO:0022948 biolink:NamedThing Deal Barratt Dillon syndrome tmpak2llvmy_mondo_relaxed.owl Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea MESH:C538206|UMLS:C2931773 owl:Class CL:2000015 biolink:NamedThing fibroblast of arm Any skin fibroblast that is part of a arm. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:29:06Z cell owl:Class CL:0000011 biolink:NamedThing migratory trunk neural crest cell Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpak2llvmy_mondo_relaxed.owl cell owl:Class UBERON:0007490 biolink:NamedThing keratin-based acellular structure Acellular anatomical structure whose predominant constituent is keratin. tmpak2llvmy_mondo_relaxed.owl keratin-based structure owl:Class UBERON:0035826 biolink:NamedThing left adrenal gland medulla the adrenal gland medulla that is in the left side of the abdomen tmpak2llvmy_mondo_relaxed.owl medulla of left suprarenal gland|left adrenal medulla|medulla of left adrenal gland owl:Class UBERON:0005109 biolink:NamedThing metanephric smooth muscle tissue Any smooth muscle tissue that is part of a metanephros. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013470 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 7 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene. tmpak2llvmy_mondo_relaxed.owl Gefs+, type 7|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|SCN9A generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 7|GEFSP7|febrile seizures, familial, 3B OMIM:613863|DOID:0111295|MESH:C567827 owl:Class Nf53b806f65e44edda3a313f5145ca9b4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:4624 biolink:NamedThing GSS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009548 biolink:NamedThing hepatic sinusoid of left of lobe of liver A hepatic sinusoid that is part of a left lobe of liver. tmpak2llvmy_mondo_relaxed.owl left lobe hepatic sinusoids owl:Class N0ff8ac32768444a5bc5402aa8a87339d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010952 biolink:NamedThing hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. tmpak2llvmy_mondo_relaxed.owl hereditary hyperferritinemia cataract syndrome|hereditary hyperferritinemia-cataract syndrome|HHCS|Bonneau-Beaumont syndrome|HRFTC|hyperferritinemia cataract syndrome|hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|cataract-hyperferritinemia syndrome|hyperferritinemia with or without cataract GARD:0002806|ICD10:H26.0|Orphanet:163|ICD9:366.44|DOID:0111256|OMIM:600886|MESH:C538137|SCTID:702398007|ICD9:289.89|UMLS:C1833213 owl:Class HGNC:7773 biolink:NamedThing NF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021208 biolink:NamedThing endocrine alopecia tmpak2llvmy_mondo_relaxed.owl SCTID:54539003|UMLS:C0002176|ICD9:704.09 owl:Class CHEBI:36856 biolink:NamedThing hydrogen isocyanide tmpak2llvmy_mondo_relaxed.owl CNH|HNC|hydrogen isocyanide|nitriliomethanide|hydroisocyanic acid|HN(+)#C(-) owl:Class UBERON:0005334 biolink:NamedThing oral lamina propria A lamina propria that is part of a mucosa of oral region. tmpak2llvmy_mondo_relaxed.owl lamina propria of oral mucosa owl:Class MONDO:0012925 biolink:NamedThing Diamond-Blackfan anemia 5 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. tmpak2llvmy_mondo_relaxed.owl RPL35A Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 5|DBA5|Diamond-Blackfan anemia caused by mutation in RPL35A|Diamond-Blackfan anemia 5 OMIM:612528|MESH:C567280|UMLS:C2675859 owl:Class HGNC:10345 biolink:NamedThing RPL35A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013191 biolink:NamedThing focal segmental glomerulosclerosis 5 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. tmpak2llvmy_mondo_relaxed.owl focal segmental glomerulosclerosis caused by mutation in INF2|INF2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis type 5|FSGS5|glomerulosclerosis, focal segmental, 5|focal segmental glomerulosclerosis 5 MESH:C567687|OMIM:613237|ICD10:N04.1|UMLS:C2750475|DOID:0111130 owl:Class HP:0002607 biolink:NamedThing Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. tmpak2llvmy_mondo_relaxed.owl Anal incontinence|Loss of bowel control|Fecal incontinence|Faecal incontinence UMLS:C0015732|SNOMEDCT_US:72042002|MSH:D005242 HP:0007147 human_phenotype owl:Class MONDO:0013454 biolink:NamedThing Leber congenital amaurosis 11 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene. tmpak2llvmy_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in IMPDH1|IMPDH1 Leber congenital amaurosis|LCA11|amaurosis congenita of Leber, type 11|Leber congenital amaurosis 11|Leber congenital amaurosis type 11 DOID:0110216|MESH:C564140|HGNC:6052|GARD:0010488|OMIM:613837|UMLS:C1840284|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11 owl:Class HGNC:11916 biolink:NamedThing TNFRSF1A tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002503 biolink:NamedThing Spinocerebellar tract degeneration tmpak2llvmy_mondo_relaxed.owl Spinocerebellar degeneration|Degeneration of the spinocerebellar tracts UMLS:C1866751 human_phenotype owl:Class MONDO:0013388 biolink:NamedThing developmental and epileptic encephalopathy, 11 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 11|early infantile epileptic encephalopathy caused by mutation in SCN2A|SCN2A early infantile epileptic encephalopathy|DEE11|epileptic encephalopathy, early infantile, type 11|EIEE11 UMLS:C3150987|OMIM:613721|DOID:0080421 owl:Class HGNC:6161 biolink:NamedThing ITGB6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011875 biolink:NamedThing ligament of sternoclavicular joint A skeletal ligament that is part of a sternoclavicular joint. tmpak2llvmy_mondo_relaxed.owl ligamentum sternoclavicularis|sternoclavicular joint ligament owl:Class UBERON:0009610 biolink:NamedThing forebrain neural plate A neural plate that develops_from a future forebrain. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3815 biolink:NamedThing FOXI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0800001 biolink:NamedThing delayed sleep phase syndrome, susceptibility to An inherited susceptibility or predisposition to developing delayed sleep phase syndrome. tmpak2llvmy_mondo_relaxed.owl OMIM:614163 http://orcid.org/0000-0001-8314-2140 https://github.com/monarch-initiative/mondo/issues/2863 owl:Class NCBITaxon:121752 biolink:NamedThing Lacazia loboi tmpak2llvmy_mondo_relaxed.owl Paracoccidioides loboi (nom. inval.)|Paracoccidioides loboi GC_ID:1 NCBITaxon:38947 ncbi_taxonomy owl:Class MONDO:0011413 biolink:NamedThing cataract 9 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene. tmpak2llvmy_mondo_relaxed.owl cataract (disease) caused by mutation in CRYAA|cataract, autosomal dominant|CTRCT9|CRYAA cataract (disease)|cataract 9 multiple types with or without microcornea|cataract, autosomal recessive congenital 1|autosomal recessive congenital cataract 1|cataract 9, multiple types|cataract 9, multiple types, with or without microcornea|CATC1 ICD10:Q12.0|OMIM:604219|DOID:0110266|UMLS:C1858679 owl:Class HGNC:2388 biolink:NamedThing CRYAA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015350 biolink:NamedThing 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl dup(17)(q11.2)|Grisart-Destree syndrome|Grisart-Destrée syndrome|trisomy 17q11.2 Orphanet:139474|UMLS:C4304642|UMLS:CN199408|SCTID:719583002|ICD10:Q92.3 owl:Class MONDO:0015648 biolink:NamedThing startle epilepsy Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. tmpak2llvmy_mondo_relaxed.owl SCTID:763632004|ICD10:G40.8|Orphanet:166427|UMLS:CN200058 owl:Class ENVO:01000554 biolink:NamedThing hydrocarbon gas A gas that is primarily composed of hydrocarbon molecules. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010469 biolink:NamedThing epsilon-trimethyllysine hydroxylase deficiency tmpak2llvmy_mondo_relaxed.owl susceptibility to X-linked autism 6|TMLHED|EPSILON-trimethyllysine HYDROXYLASE deficiency|AUTSX6|epsilon-trimethyllysine hydroxylase deficiency|autism, susceptibility to, X-linked 6 OMIM:300872|UMLS:C3550875 owl:Class HGNC:18308 biolink:NamedThing TMLHE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021727 biolink:NamedThing aberrant subclavian artery Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. tmpak2llvmy_mondo_relaxed.owl congenital malpositioned subclavian artery|congenital malposition of subclavian artery|aberrant subclavian artery|aberrant right subclavian artery|aberrant left subclavian artery GARD:0005706|MESH:C535555|UMLS:C2936828|SCTID:93353003 https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery owl:Class MONDO:0005405 biolink:NamedThing childhood onset asthma Asthma that starts in childhood. tmpak2llvmy_mondo_relaxed.owl asthma of childhood|pediatric asthma|childhood asthma UMLS:C0264408|SCTID:233678006|EFO:0004591 owl:Class MONDO:0011031 biolink:NamedThing autosomal dominant nonsyndromic deafness 10 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 10|autosomal dominant nonsyndromic deafness type 10|autosomal dominant nonsyndromic deafness 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|DFNA10|deafness, autosomal dominant 10|deafness, autosomal dominant type 10|EYA4 autosomal dominant nonsyndromic deafness MESH:C563354|ICD10:H90.3|UMLS:C1832476|DOID:0110542|OMIM:601316 owl:Class HGNC:31399 biolink:NamedThing SLC6A17 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7106 biolink:NamedThing ATXN3 tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:9001943 biolink:NamedThing exposure to food acidity regulator An exposure to food acidity regulator. tmpak2llvmy_mondo_relaxed.owl exposure to food acidity regulator owl:Class MONDO:0012684 biolink:NamedThing arrhythmogenic right ventricular dysplasia 12 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene. tmpak2llvmy_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 12|ARVC12|JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular cardiomyopathy 12|arrhythmogenic right ventricular dysplasia type 12|arrhythmogenic right ventricular dysplasia, familial, 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP|arrhythmogenic right ventricular dysplasia, familial, type 12|ARVD12 MESH:C566925|OMIM:611528|DOID:0110083|ICD10:I42.8|UMLS:C1969081 owl:Class HGNC:6207 biolink:NamedThing JUP tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001012 biolink:NamedThing lithometeor A meteor which is primarily composed of rock. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001068 biolink:NamedThing meteoroid An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids. tmpak2llvmy_mondo_relaxed.owl owl:Class N3aa8b18c2a1645649a6573e208964cf5 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0001753 biolink:NamedThing cementum Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument. tmpak2llvmy_mondo_relaxed.owl cementum of tooth|cement of tooth|bone of attachment|cement|cementum owl:Class ENVO:00002010 biolink:NamedThing saline water Water which contains a significant concentration of dissolved salts. tmpak2llvmy_mondo_relaxed.owl salt water owl:Class MONDO:0013838 biolink:NamedThing coenzyme Q10 deficiency, primary, 3 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. tmpak2llvmy_mondo_relaxed.owl coenzyme Q10 deficiency caused by mutation in PDSS2|coenzyme Q10 deficiency, primary, 3|PDSS2 coenzyme Q10 deficiency|COQ10D3|coenzyme Q10 deficiency, primary, type 3 DOID:0070240|UMLS:C3553358|OMIM:614652 owl:Class HGNC:23041 biolink:NamedThing PDSS2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:28314 biolink:NamedThing Aleutian mink disease virus tmpak2llvmy_mondo_relaxed.owl Aleutian mink disease parvovirus|AMDV|Aleutian disease virus GC_ID:1 ncbi_taxonomy owl:Class PO:0000229 biolink:NamedThing flower meristem A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395). tmpak2llvmy_mondo_relaxed.owl floral meristem (exact)|花芽分裂組織 (Japanese, exact)|ear floret meristem (narrow)|mersitema floral (Spanish, exact)|tassel floret meristem (narrow)|Poaceae floret meristem (narrow)|floret meristem (narrow)|floral apical meristem (related) In Zea mays and other grasses, the floret meristem is part of a spikelet and develops into a specific type of floret. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the spikelet type that the meristem is part of. Choose the most specific term possible from: spikelet (PO:0009051), ear spikelet (PO:0006320), ear pedicellate spikelet (PO:0006348), ear sessile spikelet (PO:0006349), tassel spikelet (PO:0006309), tassel pedicellate spikelet (PO:0006312), tassel sessile spikelet (PO:0006311). PO:0006329|PO:0006373|PO:0006374|PO:0025091 plant_anatomy owl:Class MONDO:0014803 biolink:NamedThing spasticity-ataxia-gait anomalies syndrome tmpak2llvmy_mondo_relaxed.owl childhood-onset spasticity with hyperglycinemia|SPAHGC|spasticity, childhood-onset, with hyperglycinemia|childhood-onset spasticity with variant non-ketotic hyperglycinemia Orphanet:401866|ICD10:E88.8|UMLS:C4225178|OMIM:616859 owl:Class MONDO:0015396 biolink:NamedThing congenital laryngeal cyst Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. tmpak2llvmy_mondo_relaxed.owl ICD10:Q31.8|Orphanet:141124|UMLS:C0339880|SCTID:765763007 owl:Class GO:0014020 biolink:NamedThing primary neural tube formation The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. tmpak2llvmy_mondo_relaxed.owl primary neurulation|primary neural tube morphogenesis owl:Class UBERON:0004451 biolink:NamedThing trunk or cervical vertebra A vertebra in the trunk or cervical region. Includes all cervical, thoracic and lumbar vertebrae, but excludes caudal vertebra. tmpak2llvmy_mondo_relaxed.owl presacral vertebra owl:Class MONDO:0008828 biolink:NamedThing camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. tmpak2llvmy_mondo_relaxed.owl camptodactyly arthropathy pericarditis syndrome|pericarditis arthropathy camptodactyly syndrome|familial fibrosing serositis|PAC syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|congenital familial hypertrophic synovitis|camptodactyly-arthropathy-pericarditis syndrome|pericarditis-arthropathy-camptodactyly syndrome|fibrosing serositis, familial|Jacobs syndrome|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|hypertrophic synovitis, congenital familial|arthropathy-camptodactyly syndrome|arthropathy camptodactyly syndrome|CACP syndrome|Cap syndrome|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|CACP GARD:0000306|DOID:0090127|OMIM:208250|EFO:0009028|Orphanet:2848|MESH:C537560 https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome owl:Class MONDO:0009255 biolink:NamedThing galactokinase deficiency Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. tmpak2llvmy_mondo_relaxed.owl galactokinase deficiency galactosemia|galactosemia 2|GALK-D|galactosemia II|Galk deficiency|galactokinase deficiency|hereditary galactokinase deficiency|galactosemia type 2|GALK deficiency GARD:0002422|UMLS:C0268155|DOID:14695|OMIM:230200|SCTID:124302001|ICD10:E74.29|Orphanet:79237|ICD10:E74.2|NCIT:C114767 https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency owl:Class MONDO:0018665 biolink:NamedThing X-linked acrogigantism due to a point mutation tmpak2llvmy_mondo_relaxed.owl familial infantile gigantism due to a point mutation|X-LAG (X-linked acrogigantism) due to a point mutation ICD10:E22.0|Orphanet:448348|UMLS:CN237730 owl:Class GO:0046835 biolink:NamedThing carbohydrate phosphorylation The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011601 biolink:NamedThing gingiva of upper jaw A gingiva that is part of a upper jaw region. tmpak2llvmy_mondo_relaxed.owl gum of maxilla|maxillary gum|gum of upper jaw|upper gingiva|upper gum|upper jaw gingiva owl:Class MONDO:0030912 biolink:NamedThing intellectual disability, autosomal dominant 47 tmpak2llvmy_mondo_relaxed.owl STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|MRD47|intellectual disability, autosomal dominant 47|autosomal dominant intellectual disability 47|autosomal dominant mental retardation 47|mental retardation, autosomal dominant 47 DOID:0080238|UMLS:CN429988|OMIM:617635|Orphanet:502434 owl:Class UBERON:0004812 biolink:NamedThing male prepuce epithelium An epithelium that is part of a prepuce of penis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl prepuce epithelial tissue|epithelium of foreskin|prepuce of penis epithelial tissue|epithelial tissue of foreskin|epithelium of penile prepuce|prepuce of penis epithelium|epithelium of prepuce of penis|epithelium of prepuce|foreskin epithelium|epithelial tissue of penile prepuce|epithelial tissue of prepuce of penis|epithelial tissue of prepuce|penile prepuce epithelium|prepuce epithelium|penile prepuce epithelial tissue|foreskin epithelial tissue owl:Class GO:0060285 biolink:NamedThing cilium-dependent cell motility Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpak2llvmy_mondo_relaxed.owl microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility owl:Class HGNC:6742 biolink:NamedThing LZTR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012859 biolink:NamedThing autosomal recessive osteopetrosis 7 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene. tmpak2llvmy_mondo_relaxed.owl osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteopetrosis, autosomal recessive type 7|TNFRSF11A osteopetrosis (disease)|osteopetrosis osteoclast-poor with hypogammaglobulinemia|osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteopetrosis autosomal recessive 7|osteopetrosis-hypogammaglobulinemia syndrome|osteopetrosis (disease) caused by mutation in TNFRSF11A|autosomal recessive osteopetrosis type 7|OPTB7|osteopetrosis, autosomal recessive 7 OMIM:612301|DOID:0110946|Orphanet:178389|MESH:C567354|ICD10:Q78.2|GARD:0010106|UMLS:C2676766 https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7 owl:Class MONDO:0014861 biolink:NamedThing autoimmune disease, multisystem, infantile-onset, 2 Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. tmpak2llvmy_mondo_relaxed.owl autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset, type 2|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|ADMIO2|autoimmune disease, multisystem, infantile-onset, 2 UMLS:C4310768|OMIM:617006 owl:Class HGNC:12858 biolink:NamedThing ZAP70 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018930 biolink:NamedThing monosomy 21 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl chromosome 21q deletion|monosomy 21q|partial monosomy 21q|21q- syndrome|21q deletion|21q deletion syndrome|partial 21q monosomy|21q monosomy|deletion 21q|monosomy type 21 GARD:0010860|Orphanet:574|MESH:C537108|UMLS:C0795875|NCIT:C36469|ICD10:Q93.0 owl:Class GO:0038064 biolink:NamedThing collagen receptor activity Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpak2llvmy_mondo_relaxed.owl transmembrane collagen receptor activity owl:Class GO:0038065 biolink:NamedThing collagen-activated signaling pathway A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. tmpak2llvmy_mondo_relaxed.owl collagen-activated signalling pathway owl:Class MONDO:0014040 biolink:NamedThing autosomal recessive osteopetrosis 8 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene. tmpak2llvmy_mondo_relaxed.owl SNX10 autosomal recessive osteopetrosis|autosomal recessive osteopetrosis type 8|osteopetrosis, autosomal recessive type 8|SNX10 autosomal recessive malignant osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive 8|autosomal recessive osteopetrosis caused by mutation in SNX10|OPTB8 DOID:0110940|UMLS:C3554478|NCIT:C150556|OMIM:615085 owl:Class HGNC:14974 biolink:NamedThing SNX10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014255 biolink:NamedThing complement factor b deficiency tmpak2llvmy_mondo_relaxed.owl CFBD|complement factor b deficiency|complement factor B deficiency OMIM:615561|UMLS:C3809950 owl:Class MONDO:0013737 biolink:NamedThing hereditary spastic paraplegia 46 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. tmpak2llvmy_mondo_relaxed.owl GBA2 autosomal recessive complex spastic paraplegia|spastic paraplegia 46, autosomal recessive|autosomal recessive spastic paraplegia 46|SPG46|hereditary spastic paraplegia type 46|hereditary spastic paraplegia 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|autosomal recessive spastic paraplegia type 46 ICD10:G11.4|SCTID:723822009|OMIM:614409|UMLS:C2828721|Orphanet:320391|DOID:0110798|UMLS:C4510081 owl:Class MONDO:0021083 biolink:NamedThing congenital fibrosis of extraocular muscles type 1 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene. tmpak2llvmy_mondo_relaxed.owl blepharoptosis with absent eye movements|fibrosis of extraocular muscles, congenital, 3B|ophthalmoplegia, congenital|Feom1 locus|CFEOM1|fibrosis of extraocular muscles, congenital, 1|congenital fibrosis of extraocular muscles caused by mutation in KIF21A|KIF21A congenital fibrosis of extraocular muscles OMIM:135700 owl:Class HGNC:19349 biolink:NamedThing KIF21A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005551 biolink:NamedThing eye allergy An allergic disease involving a pathogenic inflammatory response in the camera-type eye. tmpak2llvmy_mondo_relaxed.owl EFO:0005751 owl:Class MONDO:0005797 biolink:NamedThing HIV wasting syndrome Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). tmpak2llvmy_mondo_relaxed.owl Orphanet:90081|MESH:D019247|EFO:0007312|UMLS:C0343755 owl:Class IAO:0000033 biolink:NamedThing directive information entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000001408 biolink:NamedThing ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011845 biolink:NamedThing duct of sebaceous gland A duct that is part of a sebaceous gland. tmpak2llvmy_mondo_relaxed.owl sebaceous gland duct owl:Class HGNC:18621 biolink:NamedThing COG6 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2077 biolink:NamedThing CLN6 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3671 biolink:NamedThing FGF14 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1000307 biolink:NamedThing fibroblast of dense regular elastic tissue A fibroblast that is part of the dense regular elastic tissue. tmpak2llvmy_mondo_relaxed.owl FMA:261287 cell owl:Class HGNC:15597 biolink:NamedThing HPS3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5037 biolink:NamedThing HNRNPDL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002555 biolink:NamedThing trigeminal schwannoma A schwannoma that involves the trigeminal nerve. tmpak2llvmy_mondo_relaxed.owl schwannoma of the trigeminal nerve|fifth cranial nerve schwannoma|trigeminal neurilemmoma|schwannoma of trigeminal nerve|trigeminal schwannoma|schwannoma of fifth cranial nerve|neurilemmoma of the trigeminal nerve|neurilemmoma of fifth cranial nerve|neurilemmoma of trigeminal nerve|fifth cranial nerve neurilemmoma|schwannoma of the fifth cranial nerve|trigeminal nerve schwannoma|neurilemmoma of the fifth cranial nerve UMLS:C0349582|ICD9:215.9|SCTID:277185000|NCIT:C4655|DOID:3202 owl:Class MONDO:0011560 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 3|SLEB3 OMIM:605480 owl:Class N97c00fc096bf44518cc9e7b5ec1cf044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0035289 biolink:NamedThing axillary tail of breast An extension of the tissue of the breast which extends into the axilla. tmpak2llvmy_mondo_relaxed.owl axillary tail of Spence|tail of Spence|processus axillaris (glandula mammaria)|axillary process|axillary tail owl:Class MONDO:0013766 biolink:NamedThing familial cold autoinflammatory syndrome 3 PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. tmpak2llvmy_mondo_relaxed.owl familial cold autoinflammatory syndrome type 3|PLCG2-associated antibody deficiency and immune dysregulation|PLCG2 familial cold autoinflammatory syndrome|FACU|plaid|familial cold urticaria with common variable immunodeficiency|familial atypical cold urticaria|familial cold autoinflammatory syndrome 3|FCAS3|familial cold autoinflammatory syndrome caused by mutation in PLCG2|antibody deficiency and immune dysregulation, PLCG2-associated UMLS:C3280914|DOID:0090064|OMIM:614468|ICD10:L50.2|Orphanet:300359 owl:Class MONDO:0012250 biolink:NamedThing Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 4H|Charcot-Marie-Tooth disease, type 4H|CMT4H|Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|FGD4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy, type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|autosomal recessive Charcot-Marie-Tooth disease type 4H UMLS:C1836336|OMIM:609311|SCTID:715802008|DOID:0110192|Orphanet:99954|GARD:0012442|ICD10:G60.0|MESH:C563740 https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h owl:Class MONDO:0019494 biolink:NamedThing primary pediatric heart tumor Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. tmpak2llvmy_mondo_relaxed.owl Cardiac tumor of child|heart tumor of child|pediatric heart neoplasm UMLS:CN206281|Orphanet:875|ICD10:D15.1|ICD10:C38.0 owl:Class HP:0100845 biolink:NamedThing Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. tmpak2llvmy_mondo_relaxed.owl Anaphylaxis SNOMEDCT_US:39579001|UMLS:C0002792|MSH:D000707 Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. doelkens 2011-06-09T06:54:40Z human_phenotype owl:Class CL:2000091 biolink:NamedThing endometrial microvascular endothelial cells Any microvascular endothelial cell that is part of a endometrial blood vessel. tmpak2llvmy_mondo_relaxed.owl TermGenie 2015-03-31T21:02:36Z cell owl:Class HGNC:291 biolink:NamedThing ADSL tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:34104 biolink:NamedThing Streptobacillus tmpak2llvmy_mondo_relaxed.owl Haverhillia GC_ID:11|PMID:25858245|PMID:26438009|PMID:24912824 ncbi_taxonomy owl:Class HGNC:8854 biolink:NamedThing PEX12 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2514 biolink:NamedThing CTNNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21304 biolink:NamedThing ADPRS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:4300226 biolink:NamedThing forelimb bud mesenchyme Mesenchyme that is part of a forelimb bud. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25240 biolink:NamedThing ANO6 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005036 biolink:NamedThing mucosa of main bronchus A mucosa that is part of a main bronchus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl main bronchus organ mucosa|main bronchus mucous membrane|mucous membrane of principal bronchus|principal bronchus organ mucosa|principal bronchus mucosa|mucosa of organ of bronchus principalis|mucosa of principal bronchus|principal bronchus mucosa of organ|mucosa of primary bronchus|primary bronchus mucous membrane|mucous membrane of main bronchus|organ mucosa of bronchus principalis|primary bronchus mucosa of organ|bronchus principalis organ mucosa|mucosa of organ of main bronchus|bronchus principalis mucosa|mucous membrane of bronchus principalis|mucosa of organ of principal bronchus|bronchus principalis mucous membrane|primary bronchus organ mucosa|mucous membrane of primary bronchus|mucosa of organ of primary bronchus|organ mucosa of main bronchus|organ mucosa of principal bronchus|organ mucosa of primary bronchus|principal bronchus mucous membrane|primary bronchus mucosa|main bronchus mucosa of organ|main bronchial mucosa|bronchus principalis mucosa of organ|mucosa of bronchus principalis|main bronchus mucosa owl:Class ENVO:01001087 biolink:NamedThing formation of a liquid aerosol in an atmosphere A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere. tmpak2llvmy_mondo_relaxed.owl formation of liquid particles in an atmosphere|formation of liquid droplets in an atmosphere owl:Class UBERON:0015280 biolink:NamedThing pancreas left lobe A pancreatic lobule that is in_the_left_side_of a exocrine pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:15561 biolink:NamedThing IL36RN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013502 biolink:NamedThing 5th arch mesenchyme A mesenchyme that is part of a pharyngeal arch 5. tmpak2llvmy_mondo_relaxed.owl 5th pharyngeal arch mesenchyme|pharyngeal arch 5 mesenchyme|5th branchial arch mesenchyme owl:Class HGNC:19977 biolink:NamedThing RDH12 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005028 biolink:NamedThing mucosa of maxillary sinus A mucosa that is part of a maxillary sinus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl mucous membrane of maxillary sinus|organ mucosa of antrum of highmore|antrum of highmore mucous membrane|antrum of highmore organ mucosa|mucous membrane of antrum of highmore|maxillary sinus mucous membrane|antrum of highmore mucosa of organ|maxillary sinus organ mucosa|mucosa of organ of maxillary sinus|organ mucosa of maxillary sinus|mucosa of antrum of highmore|maxillary sinus mucosa of organ|maxillary sinus mucosa|mucosa of organ of antrum of highmore|antrum of highmore mucosa owl:Class UBERON:0004015 biolink:NamedThing embryonic-extraembryonic boundary The connection between the embryo proper and extraembryonic tissues tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0022613 biolink:NamedThing ribonucleoprotein complex biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. tmpak2llvmy_mondo_relaxed.owl RNA-protein complex biogenesis|ribonucleoprotein complex biogenesis and assembly owl:Class HGNC:12509 biolink:NamedThing UBQLN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009002 biolink:NamedThing coloboma, ocular, autosomal recessive tmpak2llvmy_mondo_relaxed.owl coloboma, ocular, autosomal recessive OMIM:216820|UMLS:C4011974 owl:Class HGNC:10526 biolink:NamedThing SALL2 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:60895 biolink:NamedThing D-alpha-amino acid anion Any alpha-amino acid anion in which the parent amino acid has D-configuration. tmpak2llvmy_mondo_relaxed.owl D-alpha-amino carboxylate|D-alpha-amino acid anions owl:Class HGNC:397 biolink:NamedThing ALAS2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21652 biolink:NamedThing OSTM1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002022 biolink:NamedThing Ly-76 high positive erythrocyte An enucleate erythrocyte that is Lyg-76-high. tmpak2llvmy_mondo_relaxed.owl Marker is associated with mouse cell types. tmeehan 2010-04-26T11:51:27Z cell owl:Class N2919505fcd534db39be7c715c7d99a27 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0060973 biolink:NamedThing cell migration involved in heart development The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008513 biolink:NamedThing synpolydactyly type 1 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene. tmpak2llvmy_mondo_relaxed.owl non-syndromic synpolydactyly caused by mutation in HOXD13|synpolydactyly type 1|synpolydactyly, Vordingborg type|syndactyly, type 2|SPD1|synpolydactyly 1|SD2a|synpolydactyly with foot anomalies|SPD, Vordingborg type|SD2, Vordingborg type|HOXD13 non-syndromic synpolydactyly OMIM:186000|ICD10:Q70.2|ICD10:Q70.0|Orphanet:295195|UMLS:CN203278 Editors note: check whether is_a: MONDO:0019683 is appropriate owl:Class HGNC:14637 biolink:NamedThing ABCA12 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002928 biolink:NamedThing dentate gyrus polymorphic layer A cellular layer of the dentate gyrus enclosed by the granule cell layer. A number of cell types are located in the polymorphic layer but the most prominent is the mossy cell. tmpak2llvmy_mondo_relaxed.owl polymorph layer of the dentate gyrus|CA4 owl:Class HGNC:3331 biolink:NamedThing EMD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013566 biolink:NamedThing Fanconi anemia complementation group L Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. tmpak2llvmy_mondo_relaxed.owl Fanconi anemia complementation group type L|Fanconi anemia, complementation group L|Fanconi Anemia, complementation group type 50|Fanconi anemia caused by mutation in FANCL|FANCL Fanconi anemia|Fanconi anemia complementation group L|FANCL|Fanconi Anemia, complementation Group 50 OMIM:614083|DOID:0111082 owl:Class HGNC:20748 biolink:NamedThing FANCL tmpak2llvmy_mondo_relaxed.owl owl:Class N3b1a164d928a449180337e8ebd4e0a68 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:2000766 biolink:NamedThing negative regulation of cytoplasmic translation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2910 biolink:NamedThing DLL4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19750 biolink:NamedThing TTC7A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18620 biolink:NamedThing COG4 tmpak2llvmy_mondo_relaxed.owl owl:Class N927495bcbd594e1597a267180d1571f4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:2000068 biolink:NamedThing pericardium fibroblast Any fibroblast that is part of a pericardium. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6430 TermGenie 2014-10-07T18:38:06Z cell owl:Class HGNC:713 biolink:NamedThing ARSA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000791 biolink:NamedThing euchromatin A dispersed and relatively uncompacted form of chromatin. tmpak2llvmy_mondo_relaxed.owl nuclear euchromatin owl:Class MONDO:0011067 biolink:NamedThing autosomal recessive nonsyndromic deafness 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 12|DFNB12|autosomal recessive deafness 12|autosomal recessive nonsyndromic deafness type 12|autosomal recessive nonsyndromic deafness 12|deafness, autosomal recessive type 12 DOID:0110467|OMIM:601386|ICD10:H90.3|MESH:C563327|UMLS:C1832394 owl:Class HGNC:19331 biolink:NamedThing MMAB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054637 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 1 tmpak2llvmy_mondo_relaxed.owl Tosti syndrome|NSLH|NSLH1|Noonan syndrome-like disorder with loose anagen hair 1 OMIM:607721 owl:Class MONDO:0013375 biolink:NamedThing Klippel-Feil syndrome 3, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene. tmpak2llvmy_mondo_relaxed.owl KFS3|Klippel-FEIL syndrome 3, autosomal dominant|Klippel-Feil syndrome 3, autosomal dominant|GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3 DOID:0080591|OMIM:613702|UMLS:C3150967 owl:Class HGNC:29222 biolink:NamedThing ZNF644 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7869 biolink:NamedThing NOL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010810 biolink:NamedThing vitamin D hydroxylation-deficient rickets, type 1B An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. tmpak2llvmy_mondo_relaxed.owl vitamin D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|vitamin D hydroxylation-deficient rickets, type 1B|vitamin D-dependent rickets, type 1B|VDDR1B|vitamin D 25-Hydroxylase deficiency|CYP2R1 vitamin D-dependent rickets, type 1|Vitam D hydroxylation-deficient rickets type 1b|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1 MESH:C564005|OMIM:600081|UMLS:C1838657|NCIT:C131074 owl:Class MONDO:0011963 biolink:NamedThing Joubert syndrome 2 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 2|cerebellooculorenal syndrome 2|TMEM216 Joubert syndrome|Joubert syndrome caused by mutation in TMEM216|JBTS2|CORS2|Joubert syndrome type 2|Cerebellooculorenal syndrome 2 GARD:0010167|MESH:C536294|DOID:0110988|UMLS:C1842577|OMIM:608091 https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 owl:Class HGNC:3433 biolink:NamedThing ERCC1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002344 biolink:NamedThing CD56-negative, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive. tmpak2llvmy_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-20T04:33:11Z cell owl:Class HsapDv:0000104 biolink:NamedThing 10-year-old human stage Child stage that refers to a child who is over 10 and under 11 years old. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000061 biolink:NamedThing placental amniotic mesenchymal stromal cell Any mesenchymal stem cell that is part of a placenta. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7140 TermGenie 2014-10-07T17:51:11Z cell owl:Class N8a804bda90964a9e808cb093b938863e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nd7e8dde9408243fa94752252ca43a977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012793 biolink:NamedThing hypouricemia, renal, 2 tmpak2llvmy_mondo_relaxed.owl hypouricemia, renal, 2|RHUC2|hypouricemia, renal, type 2|uric acid concentration, serum, quantitative trait locus 2|gout susceptibility 2 OMIM:612076|UMLS:C2677549|MESH:C567426 owl:Class HGNC:5293 biolink:NamedThing HTR2A tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4908 biolink:NamedThing HIBCH tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013411 biolink:NamedThing cranial cavity Anatomical cavity that is the lumen of the skull and contains the brain. tmpak2llvmy_mondo_relaxed.owl cavitas cranii|intracranial space|intracranial cavity owl:Class HGNC:417 biolink:NamedThing ALDOB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012746 biolink:NamedThing dilated cardiomyopathy 2A A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, 2A|dilated cardiomyopathy type 2A|cardiomyopathy, dilated, autosomal recessive|CMD2A|cardiomyopathy, congestive, autosomal recessive|cardiomyopathy, dilated, type 2A OMIM:611880|UMLS:C2678474|DOID:0110460|ICD10:I42.0 owl:Class HGNC:7436 biolink:NamedThing MTHFR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0004155 biolink:NamedThing 6,7-dihydropteridine reductase activity Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine. tmpak2llvmy_mondo_relaxed.owl 6,7-dihydropteridine:NAD(P)H oxidoreductase activity|DHPR activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|dihydropteridine reductase activity|NADPH-dihydropteridine reductase activity|NADPH-specific dihydropteridine reductase activity|NAD(P)H2:6,7-dihydropteridine oxidoreductase activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine reductase (NADH) activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|dihydropteridine reduction|NADH-dihydropteridine reductase activity owl:Class ECTO:7000069 biolink:NamedThing exposure to organic material A exposure event involving the interaction of an exposure receptor to organic material. tmpak2llvmy_mondo_relaxed.owl organic material exposure owl:Class MONDO:0012918 biolink:NamedThing primary ciliary dyskinesia 10 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, 10|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAAF2|ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus|CILD10|ciliary dyskinesia, primary, type 10 DOID:0110612|OMIM:612518|MESH:C567287|ICD10:Q34.8|UMLS:C2675867 owl:Class MONDO:0001041 biolink:NamedThing dentin caries A dental caries that involves the dentine. tmpak2llvmy_mondo_relaxed.owl compound dental caries|dental caries extending into dentine|dental caries of dentine|dentine dental caries ICD9:521.02|ICD10:K02.1|DOID:10461|UMLS:C0266846|SCTID:442551007 owl:Class HGNC:20324 biolink:NamedThing TGDS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007396 biolink:NamedThing dysostosis, Stanescu type Stanescu type dysostosis is a rare form of osteosclerosis. tmpak2llvmy_mondo_relaxed.owl osteosclerosis, Stanescu type|autosomal dominant osteosclerosis, Stanescu type|craniofacial dysostosis-diaphyseal hyperplasia syndrome|Stanescu osteosclerosis|dysostosis Stanescu type|craniofacial dysostosis with diaphyseal hyperplasia UMLS:C0432263|Orphanet:1798|MESH:C562974|GARD:0002016|SCTID:254124008|OMIM:122900|ICD10:Q78.8 owl:Class HGNC:9411 biolink:NamedThing PRKCSH tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001835 biolink:NamedThing alpine biome A biome which is subject to alpine altitudinal conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000340 biolink:NamedThing alpine An altitudinal condition which inheres in a bearer by virtue of the bearer having a monthly mean temperature is less than 10 degrees Celsius and being located at altitudes above the tree line and below the snowline. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012791 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. tmpak2llvmy_mondo_relaxed.owl MTDPS5|encephalomyopathy|booth-Haworth-Dilling syndrome|mitochondrial encephalomyopathy aminoacidopathy|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial DNA depletion syndrome type 5|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial DNA depletion syndrome 5|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) DOID:0080124|GARD:0003681|OMIM:612073|MESH:C567624|ICD10:G71.3|Orphanet:1933 https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy owl:Class HGNC:11448 biolink:NamedThing SUCLA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001917 biolink:NamedThing chronic perichondritis of pinna Chronic form of perichondritis of auricle. tmpak2llvmy_mondo_relaxed.owl chronic pinna perichondritis|perichondritis of auricle, chronic|chronic perichondritis of auricle UMLS:C0155391|DOID:14243|SCTID:45431004|ICD9:380.02 owl:Class GO:0005743 biolink:NamedThing mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. tmpak2llvmy_mondo_relaxed.owl inner mitochondrion membrane|inner mitochondrial membrane|mitochondrion inner membrane owl:Class MONDO:0100316 biolink:NamedThing long QT syndrome 1 tmpak2llvmy_mondo_relaxed.owl long QT syndrome 1/2, digenic|long QT syndrome type 1|long QT syndrome 1, acquired, susceptibility to|LQT1|ventricular fibrillation with prolonged QT interval|long QT syndrome 1 OMIM:192500|ICD10:I45.8|NCIT:C85049|GARD:0003284|DOID:0110644|SCTID:20852007|MedDRA:10039211 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:10723 biolink:NamedThing SEMA3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020756 biolink:NamedThing migraine, familial hemiplegic, 1 tmpak2llvmy_mondo_relaxed.owl hemiplegic migraine, familial type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia|familial hemiplegic migraine type 1|migraine, sporadic hemiplegic|FHM1|migraine, familial hemiplegic, 1|migraine, familial hemiplegic, type 1|MHP1 OMIM:141500|DOID:0111181|GARD:0002638 owl:Class MONDO:0007785 biolink:NamedThing hyperthyroxinemia, dystransthyretinemic tmpak2llvmy_mondo_relaxed.owl hyperthyroxinemia, dystransthyretinemic|dystransthyretinemic Euthyroidal hyperthyroxinemia|hyperthyroxinemia, Dysprealbuminemic|dystransthyretinemic hyperthyroxinemia|Euthryroidal hyperthyroxinemia 2|DTTRH MESH:C567719|OMIM:145680|DOID:0080219|UMLS:C2750824 owl:Class MONDO:0002133 biolink:NamedThing chronic rheumatic pericarditis Chronic form of rheumatic pericarditis. tmpak2llvmy_mondo_relaxed.owl rheumatic pericarditis, chronic ICD10:I09.2|ICD9:393|DOID:1869|SCTID:78069008|UMLS:C0155561 owl:Class UBERON:0009695 biolink:NamedThing epithelium of laryngopharynx A epithelium that is part of a hypopharynx. tmpak2llvmy_mondo_relaxed.owl epithelium of laryngeal pharynx|laryngopharynx epithelium owl:Class HGNC:6584 biolink:NamedThing LHB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011633 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|HMSN2C|Charcot-Marie-Tooth neuropathy type 2C|hereditary motor and sensory neuropathy 2 C|Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth neuropathy, type 2C|TRPV4 Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy, type 2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy, type IIC|CMT2C|CMT 2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|HMSN 2C|hereditary motor and sensory neuropathy type IIc|HMSN 2 C|Charcot Marie Tooth disease type 2C|Charcot-Marie-Tooth disease, axonal, type 2C OMIM:606071|SCTID:717010007|ICD10:G60.0|GARD:0001250|DOID:0110182|Orphanet:99937 https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c owl:Class MONDO:0000615 biolink:NamedThing progesterone-receptor positive breast cancer tmpak2llvmy_mondo_relaxed.owl DOID:0060077 Editor note: check why not in NCIT; note also that triple-positive should be classified here owl:Class NCIT:C15496 biolink:NamedThing Progesterone Receptor Positive tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009552 biolink:NamedThing mal de Meleda Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. tmpak2llvmy_mondo_relaxed.owl transgrediens palmoplantar keratoderma of Siemens|keratosis palmoplantaris transgradiens of Siemens|mal de Meleda|keratosis palmoplantaris transgrediens of Siemens|MAL DE Meleda|Meleda disease|MDM DOID:0060862|OMIM:248300|SCTID:239069005|UMLS:C0025221|ICD9:757.39|Orphanet:87503|GARD:0000092|ICD10:Q82.8 owl:Class MONDO:0007609 biolink:NamedThing fibromatosis, gingival, 1 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary gingival fibromatosis caused by mutation in SOS1|GINGF|fibromatosis, gingival, hereditary|gingival fibromatosis, 1|SOS1 gingival fibromatosis|hereditary gingival fibromatosis, 1|fibromatosis gingival, hereditary, 1|gingival fibromatosis caused by mutation in SOS1|HGF1|GINGF1|GGF1|SOS1 hereditary gingival fibromatosis|fibromatosis, gingival, type 1|fibromatosis, gingival, 1 GARD:0006509|UMLS:CN030594|OMIM:135300 https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1 owl:Class NCBITaxon:10232 biolink:NamedThing Acanthocephala tmpak2llvmy_mondo_relaxed.owl acanthocephalans|thorny-headed worms|spiny-headed worms|Acanthocephala GC_ID:1 ncbi_taxonomy owl:Class HGNC:6005 biolink:NamedThing IL21 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014839 biolink:NamedThing chorea, childhood-onset, with psychomotor retardation tmpak2llvmy_mondo_relaxed.owl chorea, childhood-onset, with psychomotor retardation|COCPMR|chorea, childhood-onset, with psychomotor retardation; COCPMR OMIM:616939|UMLS:C4310787 owl:Class MONDO:0012761 biolink:NamedThing chromosome 3q29 microduplication syndrome 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly. tmpak2llvmy_mondo_relaxed.owl trisomy 3q29|microduplication 3Q29 syndrome|3q29 microduplication syndrome|chromosome 3q29 DUPLICATION syndrome|3q29 microduplication DOID:0060459|Orphanet:251038|OMIM:611936|UMLS:C2749873|ICD10:Q92.3|MESH:C567626|GARD:0010360|SCTID:717973004 https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome owl:Class MONDO:0014444 biolink:NamedThing Bardet-Biedl syndrome 16 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpak2llvmy_mondo_relaxed.owl BBS16|SDCCAG8 Bardet-Biedl syndrome|Bardet-Biedl syndrome 16|Bardet-Biedl syndrome caused by mutation in SDCCAG8|Bardet-Biedl syndrome type 16 OMIM:615993|ICD10:Q87.89|DOID:0110138|UMLS:C3889474 owl:Class UBERON:8300002 biolink:NamedThing left forelimb A forelimb that is on the left side of a pectoral complex. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005332 biolink:NamedThing mesonephric S-shaped body The mesonephric S-shaped body is the successor of the mesonephric comma-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000065 biolink:NamedThing ovarian microvascular endothelial cell Any microvascular endothelial cell that is part of a female urethra. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7300 TermGenie 2014-10-07T18:18:01Z cell owl:Class ENVO:02500001 biolink:NamedThing desertification A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife. tmpak2llvmy_mondo_relaxed.owl owl:Class N5f1a207112494ebb8d93bb752ad9ea3f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010433 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 15 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 15|SLEB15 OMIM:300809 owl:Class MONDO:0014580 biolink:NamedThing intellectual disability, autosomal dominant 33 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant 33|DPP6 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|autosomal dominant non-syndromic intellectual disability 33|autosomal dominant mental retardation 33|MRD33|mental retardation, autosomal dominant type 33|mental retardation, autosomal dominant 33|intellectual disability, autosomal dominant type 33 OMIM:616311|DOID:0070063 owl:Class MONDO:0014997 biolink:NamedThing nephronophthisis 20 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis type 20|nephronophthisis 20|MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1|NPHP20 OMIM:617271|DOID:0111127|UMLS:C4310640 owl:Class MONDO:0043589 biolink:NamedThing femoral neck fracture Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. tmpak2llvmy_mondo_relaxed.owl femur neck fractures|fracture of neck of femur|neck of femur bone fracture|femur neck fracture|bone fracture of neck of femur|femoral neck fracture|nof - fracture of neck of femur|fracture of hip EFO:1001792|SCTID:5913000|MESH:D005265 owl:Class MONDO:0012471 biolink:NamedThing Aicardi-Goutieres syndrome 3 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. tmpak2llvmy_mondo_relaxed.owl RNASEH2C Aicardi-Goutieres syndrome|AGS3|Aicardi-Goutieres syndrome type 3|Aicardi-Goutieres syndrome 3|Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C -related Aicardi-Goutieres syndrome GARD:0010895|OMIM:610329|UMLS:C1835916|MESH:C563683 owl:Class HGNC:24116 biolink:NamedThing RNASEH2C tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016516 biolink:NamedThing lamina propria of prostatic urethra A lamina propria that is part of a prostatic urethra. tmpak2llvmy_mondo_relaxed.owl lamina propria of prostatic urethra|lamina propria of prostatic part of urethra owl:Class HGNC:9688 biolink:NamedThing CAVIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17993 biolink:NamedThing TRPM4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:775 biolink:NamedThing SERPINC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003593 biolink:NamedThing breast liposarcoma A malignant adipose tissue neoplasm of the breast. tmpak2llvmy_mondo_relaxed.owl breast liposarcoma|liposarcoma of breast|liposarcoma of the breast NCIT:C5187|UMLS:C1332632|DOID:5701 owl:Class MONDO:0014740 biolink:NamedThing autosomal dominant nonsyndromic deafness 68 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 68|deafness, autosomal dominant type 68|deafness, autosomal dominant 68|HOMER2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|DFNA68|autosomal dominant nonsyndromic deafness type 68 ICD10:H90.3|OMIM:616707|UMLS:C4225240|DOID:0110589 owl:Class HGNC:17513 biolink:NamedThing HOMER2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001352 biolink:NamedThing round ligament malignant neoplasm A malignant neoplasm involving the round ligament of uterus. tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of round ligament|malignant neoplasm of round ligament of uterus|round ligament of uterus cancer|cancer of round ligament of uterus|malignant round ligament of uterus neoplasm SCTID:188204000|ICD10:C57.2|DOID:11748|ICD9:183.5|UMLS:C0346867 owl:Class MONDO:0009683 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. tmpak2llvmy_mondo_relaxed.owl limb-girdle muscular dystrophy type 2H|muscular dystrophy, limb-girdle, type 2H|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|sarcotubular myopathy|autosomal recessive limb-girdle muscular dystrophy type 2H|Sarcotubular myopathy|muscular dystrophy, Hutterite type|TRIM32 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy Hutterite type|muscular dystrophy limb-girdle type 2H|LGMD2H|limb-girdle muscular dystrophy due to TRIM32 deficiency OMIM:254110|MESH:C535897|SCTID:43226001|DOID:0110282|GARD:0003844|Orphanet:1878|ICD9:359.89|ICD10:G71.0|UMLS:C0270968 owl:Class HGNC:9302 biolink:NamedThing PPP2R1A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012180 biolink:NamedThing arrhythmogenic right ventricular dysplasia 9 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. tmpak2llvmy_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, type 9|arrhythmogenic right ventricular dysplasia, familial, 9|arrhythmogenic right ventricular cardiomyopathy 9|ARVD9|arrhythmogenic right ventricular dysplasia 9|ARVC9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|arrhythmogenic right ventricular dysplasia type 9 ICD10:I42.8|OMIM:609040|UMLS:C1836906|MESH:C563808|DOID:0110077 owl:Class HGNC:4281 biolink:NamedThing GJA8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006093 biolink:NamedThing ascending colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpak2llvmy_mondo_relaxed.owl carcinoid tumor of ascending colon|ascending colon neuroendocrine neoplasm G1|carcinoid tumor of the ascending colon|ascending colon neuroendocrine tumor, well differentiated, low grade|ascending colon carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon NET G1|ascending colon neuroendocrine tumor G1|ascending colon carcinoid tumor UMLS:C1332340|EFO:1000094|NCIT:C6427 owl:Class MONDO:0014583 biolink:NamedThing congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. tmpak2llvmy_mondo_relaxed.owl myasthenic syndrome, congenital, 3A, slow-channel|CMS3A|congenital myasthenic syndrome type 3A|congenital myasthenic syndrome 3A, slow-channel DOID:0110666|UMLS:C4225372|OMIM:616321 owl:Class GO:0019902 biolink:NamedThing phosphatase binding Binding to a phosphatase. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011596 biolink:NamedThing atopic dermatitis 2 Any atopic eczema in which the cause of the disease is a mutation in the FLG gene. tmpak2llvmy_mondo_relaxed.owl ATOD2|atopic dermatitis type 2|dermatitis, ATOPIC, 2|atopic eczema caused by mutation in FLG|FLG atopic eczema|dermatitis, Atopic, type 2 DOID:0110098|UMLS:C1853965|MESH:C565293|OMIM:605803 owl:Class HGNC:37 biolink:NamedThing ABCA7 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000981 biolink:NamedThing mass liquid flow A process whereby a volume of liquid moves due to a disequilibrium of physical forces. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12872 biolink:NamedThing ZIC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12261 biolink:NamedThing TRDN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1940 biolink:NamedThing CHM tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000515 biolink:NamedThing skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. tmpak2llvmy_mondo_relaxed.owl skeletal myoblast FMA:84799 cell owl:Class MONDO:0011600 biolink:NamedThing congenital myasthenic syndrome 4A A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl CMS1A1|myasthenic syndrome, congenital, 4A, slow-channel|Cms Ia1|CMS Ia1|congenital myasthenic syndrometype Ia1|congenital myasthenic syndrome type Ia1, formerly|congenital myasthenic syndrome 4A slow-channel|congenital myasthenic syndrome type Ia1|congenital myasthenic syndrome type 4A|CMS4A|Cms Ia1, formerly OMIM:605809|DOID:0110678|UMLS:C1853949 owl:Class HGNC:12463 biolink:NamedThing UBB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014487 biolink:NamedThing congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. tmpak2llvmy_mondo_relaxed.owl SIFD|SIFD syndrome|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Orphanet:369861|DOID:0080209|OMIM:616084|ICD10:D64.0|UMLS:C4015172 owl:Class Nde60437adb0947708f4c33dc6901b3c8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:30242 biolink:NamedThing TUSC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016652 biolink:NamedThing 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. tmpak2llvmy_mondo_relaxed.owl monosomy 2q31.1|Del(2)(q31.1) ICD10:Q93.5|UMLS:C4274647|Orphanet:251014|SCTID:716387004|UMLS:CN201880 owl:Class MONDO:0011245 biolink:NamedThing ichthyosis, hystrix-like, with deafness tmpak2llvmy_mondo_relaxed.owl Hid syndrome|ichthyosis, hystrix-like, with deafness MESH:C566528|OMIM:602540|UMLS:C1865234 owl:Class MONDO:0009377 biolink:NamedThing hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. tmpak2llvmy_mondo_relaxed.owl hyperammonemia due to N-acetylglutamate synthase deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|N-acetylglutamate synthase deficiency|NAGSD|N-acetyl glutamate synthetase deficiency|N-acetylglutamate synthetase deficiency|Nags deficiency|NAG synthetase deficiency|NAGS deficiency Orphanet:927|OMIM:237310|MESH:C536109|SCTID:57119000|ICD10:E72.2|GARD:0007158|NCIT:C129307 owl:Class HGNC:17996 biolink:NamedThing NAGS tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25784 biolink:NamedThing DCAF17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007451 biolink:NamedThing diabetes insipidus, nephrogenic, autosomal tmpak2llvmy_mondo_relaxed.owl diabetes insipidus, nephrogenic, autosomal|diabetes insipidus, nephrogenic, type 2 UMLS:C1563706|OMIM:125800 owl:Class HGNC:634 biolink:NamedThing AQP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041093 biolink:NamedThing central retinal vein occlusion with macular edema tmpak2llvmy_mondo_relaxed.owl central retinal vein occlusion with macular edema SCTID:232039004 owl:Class HP:0002748 biolink:NamedThing Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. tmpak2llvmy_mondo_relaxed.owl Weak and soft bones UMLS:C0035579|MSH:D012279|SNOMEDCT_US:41345002 human_phenotype owl:Class GO:0042088 biolink:NamedThing T-helper 1 type immune response An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. tmpak2llvmy_mondo_relaxed.owl Th1 immune response owl:Class MONDO:0014950 biolink:NamedThing aortic aneurysm, familial thoracic 10 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. tmpak2llvmy_mondo_relaxed.owl aortic aneurysm, familial thoracic 10|LOX familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, familial thoracic type 10|AAT10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX UMLS:C4284414|OMIM:617168 owl:Class HGNC:6664 biolink:NamedThing LOX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012610 biolink:NamedThing inflammatory bowel disease 10 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 10|IBD10|ATG16L1 inflammatory bowel disease|inflammatory bowel disease 10|inflammatory bowel disease caused by mutation in ATG16L1|inflammatory bowel disease (Crohn disease) 10 OMIM:611081|UMLS:C1970207|DOID:0110885|MESH:C567021 owl:Class MONDO:0013366 biolink:NamedThing spondylocostal dysostosis 4, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. tmpak2llvmy_mondo_relaxed.owl HES7 autosomal recessive spondylocostal dysostosis|SCDO4|spondylocostal dysostosis 4, autosomal recessive|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7|spondylocostal dysostosis 4|Hes7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in HES7 UMLS:C3150942|GARD:0004976|OMIM:613686 owl:Class MONDO:0014232 biolink:NamedThing craniosynostosis 5, susceptibility to Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. tmpak2llvmy_mondo_relaxed.owl ALX4 craniosynostosis|CRS5|susceptibility to craniosynostosis 5|craniosynostosis 5, susceptibility to|craniosynostosis caused by mutation in ALX4 OMIM:615529 owl:Class MONDO:0100275 biolink:NamedThing fatty acyl-CoA reductase defects Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene. tmpak2llvmy_mondo_relaxed.owl FAR1 defect|fatty acyl-CoA reductase defects http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:26222 biolink:NamedThing FAR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005886 biolink:NamedThing oral candidiasis Infection of the mucosal lining of the mouth with the fungus Candida albicans. tmpak2llvmy_mondo_relaxed.owl thrush, oral|oral moniliasis|thrush|mouth candidiasis|candidiasis of mouth EFO:0007406|MESH:D002180|UMLS:C0006849|ICD10:B37.0|ICD10:B37.9|DOID:14262|SCTID:79740000|ICD9:112.0|NCIT:C28137 owl:Class HP:0002983 biolink:NamedThing Micromelia The presence of abnormally small extremities. tmpak2llvmy_mondo_relaxed.owl Smaller or shorter than typical limbs UMLS:C0025995|SNOMEDCT_US:74370006|MEDDRA:10027546 HP:0005753|HP:0003030 human_phenotype owl:Class UBERON:0007384 biolink:NamedThing appendage lymph vessel A lymphatic vessel that is part of a limb/fin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020735 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 1 tmpak2llvmy_mondo_relaxed.owl adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenocortical hyperplasia|AIMAH1|Cushing syndrome, adrenal, due to AIMAH|corticotropin-independent macronodular adrenal hyperplasia OMIM:219080|DOID:0111623|UMLS:C1857451 owl:Class MONDO:0100135 biolink:NamedThing Dravet syndrome Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. tmpak2llvmy_mondo_relaxed.owl SME|DS|myoclonic epilepsy, severe, of infancy|Dravet syndrome NCIT:C116573|UMLS:C0751122|ICD9:345.10|DOID:0060171|GARD:0010430|SCTID:230437002 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome owl:Class MONDO:0010499 biolink:NamedThing Ritscher-Schinzel syndrome 2 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. tmpak2llvmy_mondo_relaxed.owl CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome caused by mutation in CCDC22|RTSC2|Ritscher-Schinzel syndrome 2|Ritscher-Schinzel syndrome type 2 UMLS:C4225419|OMIM:300963|DOID:0060572 owl:Class HGNC:28909 biolink:NamedThing CCDC22 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8778 biolink:NamedThing PDE3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0031481 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 1 tmpak2llvmy_mondo_relaxed.owl microcephaly, epilepsy, and diabetes syndrome|primary microcephaly-epilepsy-permanent neonatal diabetes syndrome|MEDS1 OMIM:614231|Orphanet:306558|UMLS:C3280240 owl:Class HGNC:18550 biolink:NamedThing IER3IP1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016552 biolink:NamedThing phlegm mucus produced in the respiratory tract. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000989 biolink:NamedThing Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. tmpak2llvmy_mondo_relaxed.owl Itching|Skin itching|pruritis|Itchy skin SNOMEDCT_US:424492005|MSH:D011537|UMLS:C0033774|SNOMEDCT_US:279333002|SNOMEDCT_US:418290006|SNOMEDCT_US:418363000 human_phenotype owl:Class MONDO:0000875 biolink:NamedThing adult acute monocytic leukemia A acute monocytic leukemia that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl acute monocytic leukemia|M5b adult acute leukemia|adult acute monocytic leukemia|acute monocytic leukemia of adults|adult acute differentiated monocytic leukemia (M5b)|M5b adult acute differentiated monocytic leukemia DOID:0080149|UMLS:C0280634|NCIT:C8263 owl:Class MONDO:0021134 biolink:NamedThing acquired factor X deficiency An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition. tmpak2llvmy_mondo_relaxed.owl acquired factor X deficiency NCIT:C131626|ICD9:286.9|UMLS:C0272328|SCTID:33820001 owl:Class MONDO:0009165 biolink:NamedThing Aicardi-Goutieres syndrome 1 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. tmpak2llvmy_mondo_relaxed.owl Aicardi-Goutieres syndrome caused by mutation in TREX1|Aicardi-Goutieres syndrome type 1|Ags|Cree encephalitis|AGS1|Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome 1, autosomal dominant|TREX1 Aicardi-Goutieres syndrome|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Pseudotoxoplasmosis syndrome OMIM:225750|GARD:0010893|UMLS:C0796126 owl:Class MONDO:0012876 biolink:NamedThing heparin cofactor 2 deficiency tmpak2llvmy_mondo_relaxed.owl Hcf2 deficiency|heparin cofactor 2 deficiency|Hcf 2 deficiency|heparin cofactor II deficiency|thrombophilia due to heparin cofactor 2 deficiency SCTID:234468009|ICD9:286.3|OMIM:612356|MESH:C562865|UMLS:C0398626 owl:Class HGNC:4838 biolink:NamedThing SERPIND1 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:03000055 biolink:NamedThing desublimation of water vapour into ice A desublimation process during which water vapour is frozen into water ice. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013755 biolink:NamedThing arterial blood A blood that is part of a artery. tmpak2llvmy_mondo_relaxed.owl blood in artery|arterial blood|portion of arterial blood owl:Class MONDO:0018736 biolink:NamedThing kaposiform lymphangiomatosis A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells. tmpak2llvmy_mondo_relaxed.owl KLA Orphanet:464329|ICD10:D18.1 Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] owl:Class FOODON:03305803 biolink:NamedThing goat milk (raw) tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F5803 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class N37c749d9169e480ca2b60c1a898bca26 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ENVO:00002013 biolink:NamedThing igneous rock Rock formed from molten magma. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009999 biolink:NamedThing autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. tmpak2llvmy_mondo_relaxed.owl costovertebral segmentation defect with mesomelia, formerly|costovertebral segmentation defect with mesomelia|COVESDEM syndrome|Robinow syndrome, autosomal recessive|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly|Covesdem syndrome, formerly|Covesdem syndrome|costovertebral segmentation defect-mesomelia syndrome|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|RRS DOID:0060764|ICD10:Q87.1|Orphanet:1507|OMIM:268310|MESH:C535863|UMLS:C1849334 owl:Class HGNC:17043 biolink:NamedThing NIPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060840 biolink:NamedThing artery development The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3604 biolink:NamedThing FBN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010494 biolink:NamedThing linear skin defects with multiple congenital anomalies 3 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene. tmpak2llvmy_mondo_relaxed.owl linear skin defects with cardiomyopathy and Other congenital anomalies|linear skin defects with multiple congenital anomalies 3|linear skin defects with multiple congenital anomalies type 3|NDUFB11 microphthalmia with linear skin defects syndrome|LSDMCA3|microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11 UMLS:C4225421|OMIM:300952 owl:Class HGNC:20372 biolink:NamedThing NDUFB11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035881 biolink:NamedThing ethmoidomaxillary suture A suture between the orbital surface of the body of the maxilla with the orbital plate of the ethmoid bone. tmpak2llvmy_mondo_relaxed.owl sutura ethmoidomaxillaris|ethmoidomaxillary suture of skull owl:Class MONDO:0017815 biolink:NamedThing acquired porencephaly An instance of porencephaly that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired porencephaly ICD10:G93.0|SCTID:38837006|Orphanet:314697|UMLS:C0151860 owl:Class MONDO:0014174 biolink:NamedThing renal-hepatic-pancreatic dysplasia 2 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. tmpak2llvmy_mondo_relaxed.owl RHPD2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|renal-hepatic-pancreatic dysplasia 2|NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia type 2 OMIM:615415|UMLS:C3809434 owl:Class HP:0010884 biolink:NamedThing Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023675 peter 2010-09-20T11:17:40Z human_phenotype owl:Class HGNC:26576 biolink:NamedThing KY tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014683 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9|Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|MDDGA9 DOID:0111232|OMIM:616538|UMLS:C4225291 owl:Class GO:0006573 biolink:NamedThing valine metabolic process The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. tmpak2llvmy_mondo_relaxed.owl valine metabolism owl:Class MONDO:0009118 biolink:NamedThing disseminated sclerosis with narcolepsy tmpak2llvmy_mondo_relaxed.owl disseminated sclerosis with narcolepsy OMIM:223300|UMLS:C1857229|MESH:C565621 owl:Class MONDO:0009339 biolink:NamedThing congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. tmpak2llvmy_mondo_relaxed.owl bile acid synthesis defect, congenital, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|AKR1D1 congenital bile acid synthesis defect|congenital bile acid synthesis defect, type 2|congenital bile acid synthesis defect type 2|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|BASD2|bile acid synthesis defect, congenital, 2|CBAS2 ICD10:K76.8|GARD:0010045|DOID:0111069|OMIM:235555|MESH:C535443|Orphanet:79303|UMLS:C1856127 owl:Class MONDO:0014343 biolink:NamedThing Desbuquois dysplasia 2 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene. tmpak2llvmy_mondo_relaxed.owl Desbuquois dysplasia 2|XYLT1 Desbuquois dysplasia|Desbuquois dysplasia caused by mutation in XYLT1|Desbuquois dysplasia type 2|Baratela-Scott syndrome|DBQD2 OMIM:300881|UMLS:C3550876|UMLS:C4014294|OMIM:615777 owl:Class MONDO:0014686 biolink:NamedThing short stature, microcephaly, and endocrine dysfunction tmpak2llvmy_mondo_relaxed.owl SSMED|short stature, microcephaly, and endocrine dysfunction OMIM:616541|UMLS:C4225288 owl:Class HGNC:12831 biolink:NamedThing XRCC4 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0001659 biolink:NamedThing temperature homeostasis A homeostatic process in which an organism modulates its internal body temperature. tmpak2llvmy_mondo_relaxed.owl thermoregulation owl:Class MONDO:0008176 biolink:NamedThing Paget disease of bone 3 tmpak2llvmy_mondo_relaxed.owl Paget disease of bone type 3|familial Paget disease of bone|Paget disease of bone, familial|PDB3|Paget disease of bone 3 GARD:0004191|UMLS:C4085252|OMIM:167250 owl:Class PATO:0002255 biolink:NamedThing grooved Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels. tmpak2llvmy_mondo_relaxed.owl creased|channeled owl:Class MONDO:0013579 biolink:NamedThing methylmalonate semialdehyde dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl developmental delay due to MMSDH deficiency|developmental delay due to ALDH6A1 deficiency|methylmalonate semialdehyde dehydrogenase deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency|MMSDHD|MMSDH deficiency ICD10:E71.1|MESH:C566402|UMLS:C3279840|Orphanet:289307|OMIM:614105 owl:Class MONDO:0014101 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene. tmpak2llvmy_mondo_relaxed.owl MDDGA12|Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|POMK muscular dystrophy-dystroglycanopathy, type A OMIM:615249|DOID:0111235|UMLS:C3808964 owl:Class ECTO:0000672 biolink:NamedThing exposure to agonist An exposure to agonist. tmpak2llvmy_mondo_relaxed.owl exposure to agonist owl:Class MONDO:0012154 biolink:NamedThing myopia 6 Any myopia in which the cause of the disease is a mutation in the SCO2 gene. tmpak2llvmy_mondo_relaxed.owl myopia type 6|SCO2 myopia (disease)|myopia 6|MYP6|myopia, susceptibility to|myopia (disease) caused by mutation in SCO2 MESH:C536105|OMIM:608908|GARD:0009937 https://rarediseases.info.nih.gov/diseases/9937/myopia-6 owl:Class HGNC:2040 biolink:NamedThing CLDN19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005539 biolink:NamedThing small bowel Crohn disease An Crohn disease involving a pathogenic inflammatory response in the small intestine. tmpak2llvmy_mondo_relaxed.owl small bowel Crohn's disease EFO:0005629 owl:Class MONDO:0005399 biolink:NamedThing venous thromboembolism Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. tmpak2llvmy_mondo_relaxed.owl venous thromboembolism NCIT:C99537|EFO:0004286|UMLS:C1861172|MESH:D054556 owl:Class MONDO:0019278 biolink:NamedThing hair anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:79363 owl:Class HGNC:26551 biolink:NamedThing DZIP1L tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:392 biolink:NamedThing AKT2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11653 biolink:NamedThing TCN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003206 biolink:NamedThing acquired hemangioma A hemangioma that is not present at birth but develops later in life. tmpak2llvmy_mondo_relaxed.owl acquired hemangioma NCIT:C27018|DOID:492|UMLS:C0856897 owl:Class MONDO:0014418 biolink:NamedThing myopathy, centronuclear, 5 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. tmpak2llvmy_mondo_relaxed.owl CNM5|autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, 5|myopathy, centronuclear, type 5|SPEG autosomal recessive centronuclear myopathy UMLS:C4014814|OMIM:615959|DOID:0111222 owl:Class CL:1001318 biolink:NamedThing renal interstitial pericyte tmpak2llvmy_mondo_relaxed.owl KUPO:0001104 cell owl:Class NCBITaxon:36827 biolink:NamedThing Clostridium botulinum B tmpak2llvmy_mondo_relaxed.owl PMID:8863443|GC_ID:11 ncbi_taxonomy owl:Class HGNC:1397 biolink:NamedThing CACNA1S tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012494 biolink:NamedThing testicular microlithiasis tmpak2llvmy_mondo_relaxed.owl testicular microlithiasis (disease)|testicular microlithiasis testicular microlithiasis (disease) MESH:C566478|HP:0012215|OMIM:610441|UMLS:C1864873 owl:Class HGNC:11020 biolink:NamedThing SLC34A2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410042 biolink:NamedThing arteriole of lymph node An arteriole that is part of a lymph node. tmpak2llvmy_mondo_relaxed.owl lymph node arteriole owl:Class HGNC:10545 biolink:NamedThing MSMO1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035045 biolink:NamedThing parotid gland intralobular duct Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5009 biolink:NamedThing HMGA2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30578 biolink:NamedThing EXPH5 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p13.2 biolink:NamedThing chr16p13.2 (Human) tmpak2llvmy_mondo_relaxed.owl 10400000 7800000 hg38 owl:Class MONDO:0014538 biolink:NamedThing fibrosis of extraocular muscles, congenital, 5 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. tmpak2llvmy_mondo_relaxed.owl CFEOM5|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|fibrosis of extraocular muscles, congenital, type 5|fibrosis of extraocular muscles, congenital, 5|COL25A1 congenital fibrosis of extraocular muscles OMIM:616219|UMLS:C4015552 owl:Class CL:2000076 biolink:NamedThing hindlimb stylopod vein endothelial cell Any vein endothelial cell that is part of a hindlimb stylopod. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T18:40:47Z cell owl:Class MONDO:0005868 biolink:NamedThing myelophthisic anemia A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. tmpak2llvmy_mondo_relaxed.owl anemia LEUKOERYTHROBLASTIC|leukoerythroblastosis|leukoerythroblastic reaction|myelophthisis|anemia, leukoerythroblastic EFO:0007388|NCIT:C36218|DOID:2354|MESH:D000750|SCTID:2694001|UMLS:C0002890|ICD9:285.8|ICD10:D61.82 owl:Class HGNC:4879 biolink:NamedThing HEXB tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2417 biolink:NamedThing CRYGS tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034707 biolink:NamedThing differentiating neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11086 biolink:NamedThing Louping ill virus tmpak2llvmy_mondo_relaxed.owl LI GC_ID:1 ncbi_taxonomy owl:Class HGNC:7795 biolink:NamedThing NFKB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2073 biolink:NamedThing TPP1 tmpak2llvmy_mondo_relaxed.owl owl:Class N1b6a31e182c54225ac75322cfa3c361b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:5218 biolink:NamedThing HSD3B2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022296 biolink:NamedThing inferior palpebral branch of infra-orbital nerve A nerve that innervates a lower eyelid and is a branch of the infra-orbital branch of the maxillary nerve. tmpak2llvmy_mondo_relaxed.owl rami palpebrales inferiores nervi infraorbitalis owl:Class MONDO:0017379 biolink:NamedThing polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. tmpak2llvmy_mondo_relaxed.owl polyneuropathy mental retardation acromicria premature menopause|polyneuropathy intellectual disability acromicria premature menopause|Lundberg syndrome|polyneuropathy - intellectual deficit - acromicria - premature menopause GARD:0004424|UMLS:CN203094|ICD10:Q87.8|Orphanet:2928 Editor note: awaiting HPO owl:Class MONDO:0000770 biolink:NamedThing shellfish allergy Allergic reaction to shellfish or shellfish products. tmpak2llvmy_mondo_relaxed.owl MESH:D000067208|DOID:0060495|SCTID:300913006|UMLS:C0577625 owl:Class FOODON:03315468 biolink:NamedThing shellfish meat (whole or parts) tmpak2llvmy_mondo_relaxed.owl SUBSET_SIREN:F15468 SIREN DB annotation: * has quality 'solid' (http://purl.obolibrary.org/obo/FOODON_03430151) * derives from 'meat part of animal' (http://purl.obolibrary.org/obo/FOODON_03420103) http://langual.org subset_siren owl:Class MONDO:0012161 biolink:NamedThing susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. tmpak2llvmy_mondo_relaxed.owl susceptibility to respiratory infections associated with CD8alpha chain mutation|familial CD8 deficiency|CD8 deficiency, familial ICD10:D84.8|MESH:C563824|OMIM:608957|SCTID:766983005|UMLS:C1837065|Orphanet:169085 owl:Class HGNC:10978 biolink:NamedThing SLC24A4 tmpak2llvmy_mondo_relaxed.owl owl:Class PR:000005307 biolink:NamedThing CCAAT/enhancer-binding protein alpha tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17944 biolink:NamedThing EXOSC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024247 biolink:NamedThing benign eccrine neoplasm A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma. tmpak2llvmy_mondo_relaxed.owl eccrine sweat gland neoplasm, benign|benign eccrine tumor of skin|benign eccrine tumor|benign eccrine skin tumor|benign eccrine sweat gland neoplasm|benign eccrine tumor of the skin|benign eccrine neoplasm of the skin|benign skin tumor with eccrine differentiation|benign eccrine neoplasm of skin|benign eccrine neoplasm|benign eccrine skin neoplasm NCIT:C6797|UMLS:C1332493|SCTID:254715009 owl:Class HGNC:18744 biolink:NamedThing DNAI2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020531 biolink:NamedThing long chain acyl-CoA dehydrogenase deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. tmpak2llvmy_mondo_relaxed.owl long chain acyl-CoA dehydrogenase deficiency|LCAD|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|LCAD deficiency|acyl-CoA dehydrogenase, long-chain deficiency|ACADL deficiency|long-chain acyl-CoA dehydrogenase deficiency|long-chain acyl-Coenzyme A dehydrogenase deficiency|inborn long-chain-acyl-CoA dehydrogenase activity disorder|inborn error of long-chain-acyl-CoA dehydrogenase activity UMLS:C0220711|ICD10:E71.3|GARD:0009700|SCTID:237996001|MESH:C535690|NCIT:C84537|Orphanet:99900 owl:Class CL:0002421 biolink:NamedThing nucleated reticulocyte A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. tmpak2llvmy_mondo_relaxed.owl tmeehan 2010-10-15T09:24:05Z cell owl:Class HGNC:32550 biolink:NamedThing ZBTB42 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:8410018 biolink:NamedThing right colic vein A portal vein that drains the ascending colon. It is a tributary of the superior mesenteric vein, and travels with its corresponding artery, the right colic artery. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020729 biolink:NamedThing autosomal recessive agammaglobulinemia 1 tmpak2llvmy_mondo_relaxed.owl autosomal recessive agammaglobulinemia 1|agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM1|agammaglobulinemia 1, autosomal recessive OMIM:601495 owl:Class MONDO:0002141 biolink:NamedThing cutaneous undifferentiated pleomorphic sarcoma An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. tmpak2llvmy_mondo_relaxed.owl cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|undifferentiated pleomorphic sarcoma of zone of skin|malignant skin fibrous histiocytoma|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)|cutaneous unclassified pleomorphic sarcoma|cutaneous undifferentiated pleomorphic sarcoma|malignant cutaneous fibrous histiocytoma|cutaneous malignant fibrous histiocytoma|malignant fibrous histiocytoma of skin|zone of skin undifferentiated pleomorphic sarcoma EFO:1000212|UMLS:C1275254|ICD9:171.9|DOID:1906|NCIT:C5576|SCTID:404014008 owl:Class UBERON:0003373 biolink:NamedThing ectoderm of footplate An ectoderm that is part of a footplate. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26527 biolink:NamedThing HGSNAT tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019232 biolink:NamedThing perception of rate of movement The series of events by which an organism senses the speed and direction of movement of the body and its parts. tmpak2llvmy_mondo_relaxed.owl kinesthesia owl:Class MONDO:0008090 biolink:NamedThing cyclic hematopoiesis A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. tmpak2llvmy_mondo_relaxed.owl cyclic hematopoiesis|CN|cyclical neutropenia|dysplasia, myelocytic periodic|neutropenia cyclic|CH|neutropenia, periodic|cyclic agranulocytosis|periodic neutropenia|cyclic neutropenia SCTID:191347008|Orphanet:2686|ICD10:D70|ICD9:288.02|MESH:C536227|OMIM:162800|ICD10:D70.4|DOID:5339|MedDRA:10053176|NCIT:C3820|GARD:0006229 owl:Class HGNC:3309 biolink:NamedThing ELANE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017199 biolink:NamedThing osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. tmpak2llvmy_mondo_relaxed.owl Heide syndrome UMLS:CN202651|UMLS:C4274786|SCTID:716189005|Orphanet:2787 owl:Class CL:2000051 biolink:NamedThing splenic fibroblast Any fibroblast that is part of a spleen. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-10-06T18:58:47Z cell owl:Class UBERON:0001186 biolink:NamedThing left renal artery Renal artery that supplies the left kidney tmpak2llvmy_mondo_relaxed.owl left renal arterial tree owl:Class CHEBI:33608 biolink:NamedThing hydrogen molecular entity tmpak2llvmy_mondo_relaxed.owl hydrogen compounds|hydrogen molecular entities owl:Class UBERON:0008887 biolink:NamedThing rectal venous plexus The hemorrhoidal plexus (or rectal venous plexus) surrounds the rectum, and communicates in front with the vesical venous plexus in the male, and the uterovaginal plexus in the female. A free communication between the portal and systemic venous systems is established through the hemorrhoidal plexus. tmpak2llvmy_mondo_relaxed.owl plexus haemorrhoidalis|plexus venosus rectalis|hemorrhoidal plexus|haemorrhoidal plexus owl:Class MONDO:0014617 biolink:NamedThing intellectual disability, autosomal dominant 38 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal dominant 38|autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|psychomotor retardation, epilepsy, and language disability syndrome|mental retardation, autosomal dominant 38|mental retardation, autosomal dominant type 38|EEF1A2 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 38|intellectual disability, autosomal dominant type 38|MRD38|autosomal dominant non-syndromic intellectual disability 38|autosomal dominant intellectual disability 38|PRELDS DOID:0070068|OMIM:616393|UMLS:C4225343 owl:Class MONDO:0013567 biolink:NamedThing atrial septal defect 3 Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect caused by mutation in MYH6|atrial septal defect type 3|MYH6 atrial heart septal defect|ASD3|atrial heart septal defect type 3|atrial septal defect 3 ICD10:Q21.1|MESH:C563540|OMIM:614089|DOID:0110108|UMLS:C3279790 owl:Class OBO:CHR_9606-chr16q22 biolink:NamedThing chr16q22 (Human) tmpak2llvmy_mondo_relaxed.owl 74100000 66600000 hg38 owl:Class GO:0009081 biolink:NamedThing branched-chain amino acid metabolic process The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. tmpak2llvmy_mondo_relaxed.owl branched chain family amino acid metabolism owl:Class MONDO:0019143 biolink:NamedThing angiostrongyliasis A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. tmpak2llvmy_mondo_relaxed.owl ICD9:128.8|ICD10:B81.3|MedDRA:10069517|MESH:C536369|ICD10:B83.2|NCIT:C128394|UMLS:C0392662|GARD:0000683|SCTID:61750000|Orphanet:74|DOID:0050256 https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis owl:Class MONDO:0014378 biolink:NamedThing primary ciliary dyskinesia 29 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. tmpak2llvmy_mondo_relaxed.owl primary ciliary dyskinesia type 29|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO|ciliary dyskinesia, primary, type 29|CCNO primary ciliary dyskinesia|ciliary dyskinesia, primary, 29, without situs inversus|CILD29|ciliary dyskinesia, primary, 29 OMIM:615872|DOID:0110600|ICD10:Q34.8|UMLS:C4014534 owl:Class HGNC:18576 biolink:NamedThing CCNO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014249 biolink:NamedThing multiple fibroadenoma of the breast Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. tmpak2llvmy_mondo_relaxed.owl mammary polyadenomatosis|MFAB|multiple fibroadenomas of the breast Orphanet:50920|UMLS:C3809918|ICD10:D24|OMIM:615554 owl:Class UBERON:0005664 biolink:NamedThing 2nd arch endoderm An endoderm that is part of a pharyngeal arch 2. tmpak2llvmy_mondo_relaxed.owl 2nd pharyngeal arch endoderm owl:Class N5e3fea99c4b1479f9dc1496929ecc899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004173 biolink:NamedThing adenocarcinoma of skene gland origin A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. tmpak2llvmy_mondo_relaxed.owl carcinoma of the paraurethral gland|paraurethral gland adenocarcinoma|Skene gland carcinoma|paraurethral gland carcinoma|carcinoma of paraurethral gland|carcinoma of Skene gland|adenocarcinoma of Skene gland origin|carcinoma of Skene's gland|adenocarcinoma of Skene gland DOID:7284|NCIT:C39863|UMLS:C1527427 owl:Class MONDO:0000233 biolink:NamedThing Japanese spotted fever A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. tmpak2llvmy_mondo_relaxed.owl oriental spotted fever|Rickettsia japonica spotted fever|Japanese spotted fevers|spotted fever, Japanese|fevers, Japanese spotted|Japanese spotted fever|fever, Japanese spotted UMLS:C2108396|DOID:0050050 owl:Class UBERON:0009125 biolink:NamedThing petrosal placode Epibranchial placode between geniculate and nodose. Associated with 2nd branchial cleft. tmpak2llvmy_mondo_relaxed.owl epibranchial placode 2|glossopharyngeal placode|glossopharyngeal epibranchial placode|glossopharyngeal IX placode owl:Class UBERON:0003659 biolink:NamedThing pedal digit muscle Any muscle organ that is part of a toe [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl digit of foot muscle organ|digitus pedis muscle organ|hind limb digit muscle|toe muscle organ|muscle organ of digit of foot|foot digit muscle organ|terminal segment of free lower limb digit muscle organ|muscle organ of foot digit|muscle organ of terminal segment of free lower limb digit|muscle organ of digit of terminal segment of free lower limb|foot digit muscle|digit of terminal segment of free lower limb muscle organ|muscle organ of digitus pedis|muscle organ of toe owl:Class UBERON:0035073 biolink:NamedThing duct of eccrine sweat gland tmpak2llvmy_mondo_relaxed.owl ductal part of eccrine sweat gland owl:Class GO:1901264 biolink:NamedThing carbohydrate derivative transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11114 biolink:NamedThing KDM5C tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7652 biolink:NamedThing NBN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008822 biolink:NamedThing posterior mediastinum The posterior mediastinum is an irregular triangular space running parallel with the vertebral column. tmpak2llvmy_mondo_relaxed.owl mediastinum posterius|posterior mediastinal part of chest owl:Class N9b5aa952e02d46a69464dbac276d8d47 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018851 biolink:NamedThing familial keratoacanthoma Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl hereditary keratoacanthoma|multiple keratoacanthoma SCTID:716774008|Orphanet:493|UMLS:CN227546|ICD10:L85.8 Editor note: consider adding subtypes owl:Class MONDO:0014169 biolink:NamedThing dyschromatosis universalis hereditaria 3 Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene. tmpak2llvmy_mondo_relaxed.owl ABCB6 dyschromatosis universalis hereditaria|dyschromatosis universalis hereditaria 3|dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria type 3|DUH3 UMLS:C3809394|OMIM:615402 owl:Class CL:0000079 biolink:NamedThing stratified epithelial cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0014283 biolink:NamedThing autosomal dominant nonsyndromic deafness 56 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 56|DFNA56|deafness, autosomal dominant type 56|autosomal dominant nonsyndromic deafness type 56|autosomal dominant nonsyndromic deafness caused by mutation in TNC|TNC autosomal dominant nonsyndromic deafness|autosomal dominant deafness 56 OMIM:615629|ICD10:H90.3|DOID:0110581|UMLS:C3810170 owl:Class UBERON:0004291 biolink:NamedThing heart rudiment A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. tmpak2llvmy_mondo_relaxed.owl heart cone|rudimentary heart owl:Class UBERON:0005992 biolink:NamedThing pulmonary valve cusp The three fibrous triangular components and associated flap of the pulmonary valve tmpak2llvmy_mondo_relaxed.owl semilunar valvule of pulmonary valve|cusp of pulmonary valve|semilunar cusp of pulmonary valve|pulmonary valvular cusp|pulmonary semilunar valvule owl:Class MONDO:0010948 biolink:NamedThing cataract 10 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene. tmpak2llvmy_mondo_relaxed.owl cataract 10, multiple types|CTRCT10|cataract, congenital zonular, with sutural opacities|CRYBA1 early-onset non-syndromic cataract|congenital zonular cataract with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|CCZS OMIM:600881|UMLS:C1833229|ICD10:Q12.0|MESH:C563435|DOID:0110258 owl:Class HGNC:2394 biolink:NamedThing CRYBA1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11080 biolink:NamedThing Saint Louis encephalitis virus tmpak2llvmy_mondo_relaxed.owl St. Louis encephalitis virus GC_ID:1 NCBITaxon:64321 ncbi_taxonomy owl:Class MONDO:0009838 biolink:NamedThing Parana hard-skin syndrome A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. tmpak2llvmy_mondo_relaxed.owl hard skin syndrome Parana type|Parana hard skin syndrome|hard-skin syndrome, Parana type|hard skin syndrome, Parana type|Parana hard-skin syndrome OMIM:260530|ICD10:L91.8|NCIT:C126559|UMLS:C1850079|GARD:0002598|Orphanet:2812|MESH:C564905 owl:Class MONDO:0012030 biolink:NamedThing autosomal dominant nonsyndromic deafness 43 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 43|autosomal dominant nonsyndromic deafness type 43|deafness, autosomal dominant 43|DFNA43 OMIM:608394|MESH:C564246|UMLS:C1842108|DOID:0110568|ICD10:H90.3 owl:Class MONDO:0022611 biolink:NamedThing Brunoni syndrome tmpak2llvmy_mondo_relaxed.owl mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia|mesomelia, radial hypoplasia bifid thumb unusual facies MESH:C537408|UMLS:C2931486 owl:Class HGNC:1323 biolink:NamedThing C4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018597 biolink:NamedThing plastic bronchitis A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe. tmpak2llvmy_mondo_relaxed.owl pseudo-membranous bronchitis|fibrinous bronchitis|croupous bronchitis Orphanet:439881|UMLS:C0264342|SCTID:53926002 owl:Class HGNC:25576 biolink:NamedThing NAXD tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0033725 biolink:NamedThing Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). tmpak2llvmy_mondo_relaxed.owl Small corpus callosum|Thinning of the corpus callosum 2021-04-07 16:39:13+00:00 peter human_phenotype owl:Class HP:0001273 biolink:NamedThing Abnormal corpus callosum morphology Abnormality of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl Abnormal corpus callosum|Abnormality of the corpus callosum|Corpus callosum abnormality UMLS:C1842581 The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. HP:0007323 human_phenotype owl:Class MONDO:0600024 biolink:NamedThing familial idiopathic inflammatory myopathy An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause. tmpak2llvmy_mondo_relaxed.owl familial idiopathic myositis OMIM:160750|MESH:C000598744 http://orcid.org/0000-0002-5460-8025 owl:Class GO:0044851 biolink:NamedThing hair cycle phase The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5358 biolink:NamedThing IRF8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021915 biolink:NamedThing arakawa syndrome 2 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. tmpak2llvmy_mondo_relaxed.owl homocystinuria-megaloblastic Anemia, cblG complementation type|tetrahydrofolate methyltransferase deficiency|N5-methylhomocysteine transferase deficiency|Arakawa syndrome II|methionine synthase deficiency|Arakawa's syndrome II|methylcobalamin deficiency, cblG type|tetrahydrofolate-methyltransferase deficiency syndrome|Arakawa's syndrome 2 NCIT:C99081|UMLS:C0268611|SCTID:89579000|MESH:C537426 owl:Class HGNC:288 biolink:NamedThing ADRB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017507 biolink:NamedThing congenital absence/hypoplasia of thumb, bilateral Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias. tmpak2llvmy_mondo_relaxed.owl thumb oligodactyly, bilateral|thumb hypodactyly, bilateral ICD10:Q71.3|Orphanet:295112 owl:Class MONDO:0018485 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. tmpak2llvmy_mondo_relaxed.owl glycogen storage disease type II, late onset|Pompe disease, late-onset|glycogenosis type II, late-onset|glycogen storage disease type 2, late-onset|GSD type 2, late onset|glycogenosis type II, late onset|Pompe disease, late onset|glycogenosis type 2, late-onset|Alpha-1,4-glucosidase acid deficiency, late-onset|GSD due to acid maltase deficiency, late-onset|GSD type II, late-onset|glycogen storage disease type 2, late onset|glycogenosis type 2, late onset|GSD type II, late onset|glycogen storage disease type II, late-onset|GSD type 2, late-onset|Alpha-1,4-glucosidase acid deficiency, late onset|GSD due to acid maltase deficiency, late onset SCTID:722343009|Orphanet:420429|UMLS:C0342753|ICD10:E74.0|UMLS:C3888925 owl:Class MONDO:0020389 biolink:NamedThing pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome tmpak2llvmy_mondo_relaxed.owl PVA/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|APV/PDA, non-Fallot type Orphanet:99048|UMLS:CN207270|ICD10:Q22.2 owl:Class MONDO:0015816 biolink:NamedThing indolent primary cutaneous T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl Orphanet:178548 owl:Class MONDO:0012712 biolink:NamedThing dystonia with cerebellar atrophy tmpak2llvmy_mondo_relaxed.owl dystonia with cerebellar atrophy|DYTCA UMLS:C2673697|MESH:C567131|OMIM:611694 owl:Class MONDO:0016029 biolink:NamedThing esthesioneuroblastoma Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. tmpak2llvmy_mondo_relaxed.owl olfactory neuroblastoma SCTID:422886007|Orphanet:1957|GARD:0002197|ICD10:C30.0 owl:Class MONDO:0010995 biolink:NamedThing Charcot-Marie-Tooth disease type 1C Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. tmpak2llvmy_mondo_relaxed.owl HMSN IC|CMT1C|Charcot-Marie-Tooth disease, demyelinating, type 1C|CMT 1C|CMT, slow nerve conduction type C|Charcot-Marie-Tooth neuropathy, type 1C|Charcot-Marie-Tooth neuropathy type 1C|LITAF Charcot-Marie-Tooth disease type 1|HMSN1C|neuropathy, hereditary motor and sensory, type 1C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|Charcot Marie Tooth disease type 1C|HMSN 1C|CMT slow nerve conduction type C|neuropathy hereditary motor and sensory type 1C MESH:C537984|DOID:0110151|UMLS:C0270913|OMIM:601098|ICD10:G60.0|GARD:0001247|Orphanet:101083 https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c owl:Class NCBITaxon:327045 biolink:NamedThing Orthoretrovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023083 biolink:NamedThing epimetaphyseal dysplasia cataract tmpak2llvmy_mondo_relaxed.owl GARD:0002175 https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract owl:Class MONDO:0012344 biolink:NamedThing Alzheimer disease 11 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease 11|Alzheimer disease, familial, 11|Ad11|AD11|Alzheimer disease type 11|Alzheimer's disease type 11|Alzheimer disease 11 OMIM:609790|UMLS:C1853360|DOID:0110044|MESH:C565228|ICD10:G30 owl:Class HGNC:14262 biolink:NamedThing AUTS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019971 biolink:NamedThing melanoma of soft tissue tmpak2llvmy_mondo_relaxed.owl clear cell sarcoma of the tendons and aponeuroses Orphanet:97338 owl:Class MONDO:0100129 biolink:NamedThing intracranial arachoid cyst A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl intracranial arachnoid cysts|arachnoid cysts, intracranial OMIM:207790 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:29106 biolink:NamedThing DDHD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024245 biolink:NamedThing ductal eccrine adenocarcinoma tmpak2llvmy_mondo_relaxed.owl ductal eccrine carcinoma|sweat gland carcinoma of the hand|anaplastic syringoma|eccrine ductal carcinoma of skin|ductal eccrine adenocarcinoma|malignant hidradenoma|eccrine ductal carcinoma (morphologic abnormality)|primary mucoepidermoid cutaneous carcinoma|eccrine ductal carcinoma|malignant acrospiroma|hidradenocarcinoma NCIT:C43345|DOID:5570|SCTID:403939009 owl:Class ECTO:0000557 biolink:NamedThing exposure to inhibitor An exposure to inhibitor. tmpak2llvmy_mondo_relaxed.owl exposure to inhibitor owl:Class MONDO:0000304 biolink:NamedThing penicilliosis A disease caused by infection with Talaromyces marneffei. tmpak2llvmy_mondo_relaxed.owl Talaromyces marneffei infectious disease|Talaromyces marneffei disease or disorder|infection caused by Talaromyces marneffei|Penicillium marneffei infectious disease|infection due to Penicillium marneffei|infection caused by Penicillium marneffei|Talaromyces marneffei caused disease or disorder DOID:0050288|SCTID:372936000|SCTID:713315007|UMLS:C1274008 owl:Class MONDO:0045033 biolink:NamedThing opportunistic systemic mycosis A mycosis that arises from infection in an immunologically compromised host and is systemic. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003320 biolink:NamedThing blastema predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. tmpak2llvmy_mondo_relaxed.owl blastema predominant renal Wilms' tumor|blastema predominant kidney Wilms' tumor|blastema predominant Wilms tumor|blastema predominant kidney Wilms tumor|blastema predominant nephroblastoma|blastema predominant renal adenosarcoma|blastema predominant renal Wilm's tumor|blastema predominant kidney adenosarcoma|blastema predominant renal Wilms tumor NCIT:C9147|UMLS:C0279609|DOID:5182 owl:Class MONDO:0015053 biolink:NamedThing hereditary angioedema type 1 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl HAE 1|hereditary angioneurotic edema type 1|HAE-I ICD9:279.8|ICD10:D84.1|Orphanet:100050|SCTID:234619000 owl:Class MONDO:0054806 biolink:NamedThing microcephaly 23, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl microcephaly 23, PRIMARY, autosomal recessive|MCPH23 UMLS:CN244932|OMIM:617985 owl:Class MONDO:0014333 biolink:NamedThing polymicrogyria, bilateral perisylvian, autosomal recessive tmpak2llvmy_mondo_relaxed.owl BPPR|polymicrogyria, bilateral perisylvian, autosomal recessive|Pmgr OMIM:615752|UMLS:C3810405 owl:Class CL:0000393 biolink:NamedThing electrically responsive cell A cell whose function is determined by its response to an electric signal. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0008661 biolink:NamedThing vitiligo Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. tmpak2llvmy_mondo_relaxed.owl vitiligo-associated multiple autoimmune disease susceptibility 6|VAMAS6 ICD10:L80|NCIT:C26915|ICD9:709.01|OMIM:193200|MESH:D014820|DOID:12306|EFO:0004208|UMLS:C0042900 owl:Class MONDO:0011039 biolink:NamedThing atrophia maculosa varioliformis cutis, familial tmpak2llvmy_mondo_relaxed.owl atrophia MACULOSA VARIOLIFORMIS cutis, familial|varioliform macular atrophy of the skin|atrophia maculosa varioliformis cutis, familial|AMVC MESH:C563349|UMLS:C1832465|OMIM:601341 owl:Class MONDO:0020540 biolink:NamedThing ovarian gynandroblastoma A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. tmpak2llvmy_mondo_relaxed.owl Gynandroblastoma of the ovary|Gynandroblastoma of ovary|Gynandroblastoma UMLS:C0346178|ICDO:8632/1|UMLS:C0018413|EFO:1000422|NCIT:C3072|ICD10:D40.1|SCTID:254867003|ICD10:D39.1|GARD:0009665|Orphanet:99914 https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma owl:Class MONDO:0023153 biolink:NamedThing tuberculous ascites tmpak2llvmy_mondo_relaxed.owl Tuberculous ascites|Tuberculous Ascites|tuberculous ascites SCTID:4501007|UMLS:C0275919|NCIT:C27076 owl:Class MONDO:0009417 biolink:NamedThing hypergonadotropic hypogonadism-cataract syndrome This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. tmpak2llvmy_mondo_relaxed.owl hypogonadism-cataract syndrome|cataracts and testicular failure|hypogonadism cataract syndrome|Lubinsky syndrome SCTID:721233005|MESH:C543092|GARD:0000298|Orphanet:2410|OMIM:240950|ICD10:E29.1|UMLS:C1855859 owl:Class MONDO:0013239 biolink:NamedThing hereditary spastic paraplegia 41 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia 41|spastic paraplegia 41, autosomal dominant|autosomal dominant spastic paraplegia type 41|hereditary spastic paraplegia type 41|SPG41 ICD10:G11.4|OMIM:613364|UMLS:CN203988|Orphanet:320355|SCTID:763069002|DOID:0110793 owl:Class MONDO:0012606 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl mycobacterium tuberculosis, susceptibility to, 2|MTBS2|Mycobacterium tuberculosis, susceptibility to, type 2 OMIM:611046 owl:Class MONDO:0015854 biolink:NamedThing supernumerary breasts tmpak2llvmy_mondo_relaxed.owl accessory breasts|polymastia MedDRA:10049786|Orphanet:180182|ICD10:Q83.1 owl:Class MONDO:0033547 biolink:NamedThing Li-Ghorbani-Weisz-Hubshman syndrome tmpak2llvmy_mondo_relaxed.owl LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME|LIGOWS OMIM:618974 owl:Class NCBITaxon:6231 biolink:NamedThing Nematoda tmpak2llvmy_mondo_relaxed.owl nematodes|Nemata|nematode|roundworm|roundworms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014262 biolink:NamedThing Rienhoff syndrome Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. tmpak2llvmy_mondo_relaxed.owl Rienhoff syndrome|Loeys-Dietz syndrome 5|LDS5|Loeys-Dietz syndrome type 5 OMIM:615582|DOID:0070236|EFO:1000012|UMLS:C3810012|GARD:0012356 https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome owl:Class MONDO:0013095 biolink:NamedThing glioma susceptibility 6 tmpak2llvmy_mondo_relaxed.owl glioma susceptibility 6|GLM6 UMLS:C2751639|OMIM:613031 owl:Class HP:0030724 biolink:NamedThing Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. tmpak2llvmy_mondo_relaxed.owl CNS cyst|Cyst of the central nervous system UMLS:C0349606|SNOMEDCT_US:277333006|MSH:D020863 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. human_phenotype owl:Class HGNC:333 biolink:NamedThing AGT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010309 biolink:NamedThing intellectual disability, X-linked 42 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 42|MRX42|mental retardation, X-linked 42 OMIM:300372|UMLS:C1845810|MESH:C564524 owl:Class MONDO:0008088 biolink:NamedThing neuropathy, with paraprotein in serum, cerebrospinal fluid and urine tmpak2llvmy_mondo_relaxed.owl neuropathy, with paraprotein in serum, cerebrospinal fluid and urine OMIM:162600|MESH:C563516|UMLS:C1834180 owl:Class MONDO:0019753 biolink:NamedThing localized Castleman disease Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. tmpak2llvmy_mondo_relaxed.owl Unicentric angiofollicular ganglionic hyperplasia|Unicentric angiofollicular lymph hyperplasia|localized Angiofollicular lymphoid hyperplasia|localized Castleman disease|Unicentric Castleman disease GARD:0006005|Orphanet:93685|UMLS:C3898582|NCIT:C115200|UMLS:CN206685|ICD10:D36.0 owl:Class MONDO:0007148 biolink:NamedThing appendicitis, proneness to tmpak2llvmy_mondo_relaxed.owl appendicitis, susceptibility|appendicitis, proneness to OMIM:107700 owl:Class MONDO:0000481 biolink:NamedThing cervical dystonia Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery. tmpak2llvmy_mondo_relaxed.owl spasmodic torticollis SCTID:74333002|ICD9:333.83|NCIT:C85072|DOID:0050840|Orphanet:93962|GARD:0010668 https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia owl:Class FOODON:03411013 biolink:NamedThing plant used for producing extract or concentrate tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018450 biolink:NamedThing spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. tmpak2llvmy_mondo_relaxed.owl X-linked spinal muscular atrophy with respiratory distress|diaphragmatic spinal muscular atrophy type 2|SMARD2|severe infantile axonal neuropathy with respiratory failure type 2 Orphanet:404521|ICD10:G12.2|UMLS:CN226195 owl:Class HGNC:4263 biolink:NamedThing GHR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043287 biolink:NamedThing superior vena cava syndrome Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. tmpak2llvmy_mondo_relaxed.owl superior vena cava obstruction|SVCS|superior vena cava syndrome|SVC obstruction|superior vena cava thrombosis|SVC syndrome MESH:D013479|SCTID:63363004|GARD:0009264|NCIT:C3396 owl:Class MONDO:0018347 biolink:NamedThing severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome tmpak2llvmy_mondo_relaxed.owl severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability ICD10:Q87.8|Orphanet:397933|UMLS:CN226082 owl:Class MONDO:0009522 biolink:NamedThing Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. tmpak2llvmy_mondo_relaxed.owl LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|ectodermal dysplasia, Berlin type|Berlin syndrome|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis SCTID:239032007|UMLS:C0406729|ICD10:Q82.4|Orphanet:1816|UMLS:C1855504|MESH:C565440|OMIM:246500 owl:Class HGNC:13993 biolink:NamedThing PRDM8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018765 biolink:NamedThing cryptogenic multifocal ulcerous stenosing enteritis tmpak2llvmy_mondo_relaxed.owl CMUSE Orphanet:468635|SCTID:722849002|UMLS:C4302263 owl:Class MONDO:0015308 biolink:NamedThing laminopathy type Decaudain-Vigouroux Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. tmpak2llvmy_mondo_relaxed.owl laminopathy with severe metabolic syndrome and myopathy UMLS:C4518324|ICD10:E88.8|Orphanet:137871|SCTID:724205009 owl:Class MONDO:0100402 biolink:NamedThing acute myeloid leukemia, del(13q14-q21) Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.) tmpak2llvmy_mondo_relaxed.owl AML, del(13q14-q21)|AML, del(13)(q14-q21)|AML, del(13)(q14q21)|AML, del(13q)(13q14-21)|AML, 13q14-q21 Deletion owl:Class HGNC:6116 biolink:NamedThing IRF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007997 biolink:NamedThing microspherophakia with hernia tmpak2llvmy_mondo_relaxed.owl microspherophakia with hernia GARD:0009462|OMIM:157150|MESH:C537468|UMLS:C1834881 https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia owl:Class MONDO:0013321 biolink:NamedThing forsythe-wakeling syndrome tmpak2llvmy_mondo_relaxed.owl microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FWS|FORSYTHE-WAKELING syndrome UMLS:C3150859|OMIM:613606 owl:Class HGNC:13997 biolink:NamedThing PRDM12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017229 biolink:NamedThing distal monosomy 12p Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. tmpak2llvmy_mondo_relaxed.owl distal deletion 12p|distal monosomy type 12p|12p13.33 microdeletion syndrome|Del(12)(p13.33) Orphanet:280325|ICD10:Q93.5|UMLS:CN202714 owl:Class MONDO:0011558 biolink:NamedThing Usher syndrome type 2C A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl USHER syndrome, type IIC|USH2C|Usher syndrome, type IIb, formerly|Usher syndrome, type 2C|Usher syndrome, type IIb|Usher syndrome, type IIc, Gpr98/Pdzd7, digenic|Usher syndrome type IIC DOID:0110839|ICD10:H35.5|NCIT:C153174|GARD:0008497|MESH:C536492|OMIM:605472 https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c owl:Class MONDO:0004449 biolink:NamedThing intraductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. tmpak2llvmy_mondo_relaxed.owl NCIT:C40387|DOID:8068|UMLS:C1512935 owl:Class MONDO:0005717 biolink:NamedThing contagious pustular dermatitis An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. tmpak2llvmy_mondo_relaxed.owl ecthyma contagiosum|Orf|sheep pox|ecthyma, Contagious|thistle disease|scabby mouth UMLS:C0013570|ICD10:B08.02|DOID:8771|EFO:0007222|ICD9:051.2|SCTID:74050005|MESH:D004474 owl:Class MONDO:0002416 biolink:NamedThing ethmoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpak2llvmy_mondo_relaxed.owl ethmoidal sinus epidermoid carcinoma|ethmoid sinus epidermoid carcinoma|squamous cell carcinoma of ethmoidal sinus|squamous cell carcinoma of the ethmoidal sinus|epidermoid carcinoma of the ethmoid sinus|squamous cell carcinoma of ethmoid sinus|ethmoidal sinus squamous cell carcinoma|epidermoid carcinoma of the ethmoidal sinus|epidermoid carcinoma of ethmoidal sinus|ethmoid sinus squamous cell carcinoma|epidermoid carcinoma of ethmoid sinus|squamous cell carcinoma of the ethmoid sinus NCIT:C6065|DOID:2763|SCTID:707359008|UMLS:C1333477 owl:Class MONDO:0013250 biolink:NamedThing autosomal recessive nonsyndromic deafness 85 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. tmpak2llvmy_mondo_relaxed.owl DFNB85|autosomal recessive nonsyndromic deafness type 85|deafness, autosomal recessive 85|autosomal recessive deafness 85 UMLS:C3160740|OMIM:613392|ICD10:H90.3|DOID:0110531 owl:Class MONDO:0013160 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, Pomt2-related|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-POMT2 related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 UMLS:C3150416|OMIM:613156|NCIT:C126690 owl:Class MONDO:0007426 biolink:NamedThing deafness, unilateral tmpak2llvmy_mondo_relaxed.owl deafness, unilateral MESH:C567079|OMIM:125000|UMLS:C2607947 owl:Class MONDO:0013300 biolink:NamedThing commissural facial cleft Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl transverse cleft, isolated|macrostomia, isolated|commissural cleft, isolated|macrostomia|lateral cleft, isolated MESH:D008265|ICD9:744.83|Orphanet:141276|OMIM:613545|ICD10:Q18.4|SCTID:40159009 owl:Class MONDO:0002265 biolink:NamedThing stereotypic movement disorder Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) tmpak2llvmy_mondo_relaxed.owl stereotypy habit disorder|stereotyped repetitive movements NOS (finding)|stereotyped repetitive movements ICD9:307.3|DOID:2303|SCTID:5507002|ICD10:F98.4|MESH:D019956 owl:Class GO:0070069 biolink:NamedThing cytochrome complex A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010930 biolink:NamedThing Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. tmpak2llvmy_mondo_relaxed.owl Abnormality of monovalent inorganic cation homeostasis UMLS:C4023645 peter 2011-01-06T10:38:38Z human_phenotype owl:Class MONDO:0009481 biolink:NamedThing Jumping Frenchmen of Maine tmpak2llvmy_mondo_relaxed.owl exaggerated startle reflex|'jumpers' of Maine|Jumping Frenchmen of Maine OMIM:244100|GARD:0006803 owl:Class MONDO:0009061 biolink:NamedThing cystic fibrosis Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. tmpak2llvmy_mondo_relaxed.owl cystic fibrosis|CF|mucoviscidosis SCTID:190905008|UMLS:C0010674|ICD10:E84.1|ICD10:E84.9|ICD10:E84.0|ICD9:277.0|GARD:0006233|ICD10:E84.8|Orphanet:586|OMIM:219700|MESH:D003550|DOID:1485|ICD10:E84|MedDRA:10011762|NCIT:C2975 https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis owl:Class MONDO:0012790 biolink:NamedThing amyotrophic lateral sclerosis type 10 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in TARDBP|TARDBP amyotrophic lateral sclerosis|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|amyotrophic lateral sclerosis 10|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|ALS10|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|Ftld-TDP, Tardbp-related|amyotrophic lateral sclerosis type 10 GARD:0010497|UMLS:C3502417|MESH:C567429|OMIM:612069|DOID:0060201 https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10 owl:Class MONDO:0012224 biolink:NamedThing febrile seizures, familial, 6 tmpak2llvmy_mondo_relaxed.owl febrile seizures, familial, 6|FEB6|convulsions, familial febrile, 6 OMIM:609253|MESH:C563764|UMLS:C1836518|DOID:0111309 owl:Class MONDO:0009413 biolink:NamedThing immunodeficiency, common variable, 2 tmpak2llvmy_mondo_relaxed.owl CVID2|antibody deficiency due to TACI defect|hypogammaglobulinemia due to TACI deficiency|immunodeficiency, common variable, type 2|immunodeficiency, common variable, 2 UMLS:C3150354|OMIM:240500 owl:Class HGNC:18810 biolink:NamedThing CATSPER2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001144 biolink:NamedThing partial third-nerve palsy tmpak2llvmy_mondo_relaxed.owl third or oculomotor nerve palsy, partial|third nerve palsy with pupil sparing|partial third nerve palsy SCTID:194118007|UMLS:C0271370|ICD9:378.51|DOID:10864 owl:Class MONDO:0020628 biolink:NamedThing microcephaly, growth restriction, and increased sister chromatid exchange 2 tmpak2llvmy_mondo_relaxed.owl MGRISCE2|microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM:618097|Orphanet:508512 owl:Class MONDO:0011368 biolink:NamedThing papillary thyroid Microcarcinoma A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. tmpak2llvmy_mondo_relaxed.owl papillary Microcarcinoma of the thyroid|papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary thyroid gland Microcarcinoma|papillary Microcarcinoma of the thyroid gland MESH:C563277|ICDO:8341/3|OMIM:603744|NCIT:C46004|UMLS:C1709457 owl:Class MONDO:0004500 biolink:NamedThing lung superior sulcus carcinoma A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. tmpak2llvmy_mondo_relaxed.owl superior sulcus carcinoma of lung|superior sulcus lung carcinoma|superior sulcus carcinoma of the lung UMLS:C1336529|NCIT:C7779|DOID:8208 owl:Class MONDO:0043923 biolink:NamedThing lichen planus, oral A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. tmpak2llvmy_mondo_relaxed.owl olp - oral lichen planus|oral lichen planus MESH:D017676|UMLS:C0206139|EFO:1001415|NCIT:C7406|SCTID:235049008 owl:Class CL:1000417 biolink:NamedThing myoepithelial cell of sweat gland A myoepithelial cell that is part of the sweat gland. tmpak2llvmy_mondo_relaxed.owl FMA:67801 cell owl:Class ECTO:9000171 biolink:NamedThing exposure to acetate An exposure to acetate. tmpak2llvmy_mondo_relaxed.owl exposure to acetate owl:Class UBERON:0035110 biolink:NamedThing lateral plantar nerve A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5. tmpak2llvmy_mondo_relaxed.owl external plantar nerve|nervus plantaris lateralis owl:Class MONDO:0035892 biolink:NamedThing Mills syndrome A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. tmpak2llvmy_mondo_relaxed.owl Orphanet:94091 owl:Class MONDO:0020129 biolink:NamedThing acquired motor neuron disease An instance of motor neuron disease that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired anterior horn cell disease|acquired motor neuron disease UMLS:CN207019|Orphanet:98506 owl:Class MONDO:0021115 biolink:NamedThing luminal B breast carcinoma A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. tmpak2llvmy_mondo_relaxed.owl Luminal B subtype of breast carcinoma|Luminal B|Luminal B breast cancer|Luminal B breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma UMLS:C3642346|NCIT:C53555 owl:Class GO:0002269 biolink:NamedThing leukocyte activation involved in inflammatory response A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. tmpak2llvmy_mondo_relaxed.owl leukocyte activation during inflammatory response|immune cell activation during inflammatory response owl:Class GO:0015985 biolink:NamedThing energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023204 biolink:NamedThing Fukuda-Miyanomae-Nakata syndrome tmpak2llvmy_mondo_relaxed.owl Fukuyama type muscular dystrophy|muscular dystrophy, congenital, with central nervous system involvement|muscular dystrophy, congenital progressive, with mental retardation|Cerebromuscular dystrophy, Fukuyama type|muscular dystrophy, congenital, Fukuyama type|FCMD|muscular dystrophy, congenital progressive, with intellectual disability Orphanet:2060|GARD:0006475|UMLS:CN776933|GARD:0002411 https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome|https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy owl:Class MONDO:0009112 biolink:NamedThing rhizomelic chondrodysplasia punctata type 2 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. tmpak2llvmy_mondo_relaxed.owl rhizomelic chondrodysplasia punctata, type 2|RCDP2|type 2 rhizomelic chondrodysplasia punctata|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|Dhapat deficiency|GNPAT rhizomelic chondrodysplasia punctata|Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata type 2|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate O-acyltransferase deficiency|Gnpat deficiency|Rcdp2 GARD:0009429|DOID:0110852|Orphanet:309796|UMLS:C1857242|OMIM:222765|ICD10:Q77.3|MESH:C537607 https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0010784 biolink:NamedThing chloramphenicol toxicity tmpak2llvmy_mondo_relaxed.owl chloramphenicol toxicity|anemia, chloramphenicol-induced|chloramphenicol resistance OMIM:515000 owl:Class MONDO:0012068 biolink:NamedThing brachial palsy, familial congenital tmpak2llvmy_mondo_relaxed.owl brachial palsy, familial congenital MESH:C563901|UMLS:C1837810|OMIM:608585 owl:Class MONDO:0009494 biolink:NamedThing Ketoadipicaciduria tmpak2llvmy_mondo_relaxed.owl Ketoadipicaciduria 2021-01-01 UMLS:C1855626|MESH:C565453|OMIM:245130 Reason: duplicate. This will be merged with MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria owl:Class MONDO:0024861 biolink:NamedThing mixed teratoma and seminoma tmpak2llvmy_mondo_relaxed.owl mixed teratoma and seminoma NCIT:C9010 owl:Class MONDO:0020522 biolink:NamedThing Ehlers-Danlos syndrome type 7B tmpak2llvmy_mondo_relaxed.owl Ehlers-Danlos syndrome, arthrochalasia type, 2|EDSARTH2|Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDS VIIB GTR:AN1112503|GTR:AN1112966|UMLS:C1851801|MESH:C565061|UMLS:CN706304|GTR:AN1112967|ICD10:Q79.6|Orphanet:99876|GTR:AN1112965 owl:Class MONDO:0054549 biolink:NamedThing peroxisome biogenesis disorder 10B tmpak2llvmy_mondo_relaxed.owl PBD10B|peroxisome biogenesis disorder 10B OMIM:617370 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0004269 biolink:NamedThing breast cystic hypersecretory carcinoma tmpak2llvmy_mondo_relaxed.owl cystic hypersecretory carcinoma of the breast|cystic hypersecretory duct carcinoma of the breast DOID:7537 owl:Class HGNC:9986 biolink:NamedThing RFX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002775 biolink:NamedThing anovulation The absence of ovulation. tmpak2llvmy_mondo_relaxed.owl UMLS:C0003128|DOID:3781|MESH:D000858 owl:Class MONDO:0004287 biolink:NamedThing pancreatic foamy gland adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. tmpak2llvmy_mondo_relaxed.owl pancreatic foamy gland adenocarcinoma DOID:7577|NCIT:C37256|UMLS:C1335303 owl:Class MONDO:0004893 biolink:NamedThing hypertropia Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. tmpak2llvmy_mondo_relaxed.owl DOID:9837|NCIT:C34716|ICD9:378.31|UMLS:C0020575|SCTID:40608009|ICD10:H50.2 owl:Class MONDO:0011539 biolink:NamedThing nemaline myopathy 5 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. tmpak2llvmy_mondo_relaxed.owl Amish nemaline myopathy|nemaline myopathy type 5|NEM5|nemaline myopathy caused by mutation in TNNT1|nemaline myopathy 5|nemaline myopathy, Amish type|TNNT1 nemaline myopathy|ANM|nemaline myopathy 5, Amish type|nemaline myopathy, caused by mutation in the troponin t1 gene ICD10:G71.2|OMIM:605355|DOID:0110936|GARD:0008334|Orphanet:98902|UMLS:C1854380|MESH:C538397 owl:Class MONDO:0017596 biolink:NamedThing diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. tmpak2llvmy_mondo_relaxed.owl primary DLBCL of the CNS|central nervous system diffuse large B-cell lymphoma|CNS DLBCL|DLBCL of the CNS|diffuse large B-cell lymphoma of central nervous system|primary diffuse large B-cell lymphoma of the central nervous system Orphanet:300849|UMLS:C2026186|NCIT:C71720|SCTID:734066005|ICD10:C83.3|ICDO:9680/3 owl:Class MONDO:0009033 biolink:NamedThing temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. tmpak2llvmy_mondo_relaxed.owl craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|Dysmorphism, corpus callosum agenesis and colobomas|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|Temtamy-Shalash syndrome|temtamy syndrome|intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|TEMTAMY syndrome|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|TEMTYS GARD:0005688|MESH:C536959|NCIT:C148371|OMIM:218340|DOID:0111621|Orphanet:1777|SCTID:719947004|UMLS:C1857512|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome owl:Class MONDO:0015579 biolink:NamedThing Hb Bart's hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. tmpak2llvmy_mondo_relaxed.owl Hemoglobin Bart's hydrops fetalis|homozygous alpha0-thalassemia|Alpha-thalassemia hydrops fetalis|Alpha-thalassemia major ICD9:282.49|Orphanet:163596|ICD10:D56.0|SCTID:5300004 owl:Class CHEBI:36527 biolink:NamedThing glycosylsphingoid tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:25513 biolink:NamedThing neutral glycosphingolipid Any glycosphingolipid containing unsubstituted glycosyl moieties. tmpak2llvmy_mondo_relaxed.owl neutral glycosphingolipids owl:Class MONDO:0100106 biolink:NamedThing neonatal epileptic encephalopathy A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. tmpak2llvmy_mondo_relaxed.owl 2022-02-01 Reason: out of scope. Recommended for obsoletion by the ClinGen Epilepsy GCEP. Term to consdier: MONDO:0100455 Neonatal-onset developmental and epileptic encephalopathy. MONDO:0100455 http://orcid.org/0000-0001-5208-3432 owl:Class PR:000001293 biolink:NamedThing C-type lectin domain family 4 member K tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044321 biolink:NamedThing structural heart defects and renal anomalies syndrome tmpak2llvmy_mondo_relaxed.owl SHDRA|structural heart defects and renal anomalies syndrome UMLS:C4479549|OMIM:617478 owl:Class UBERON:0016888 biolink:NamedThing transitional anatomical structure An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014661 biolink:NamedThing epidermolysis bullosa simplex with nail dystrophy tmpak2llvmy_mondo_relaxed.owl EBSND|epidermolysis bullosa simplex with nail dystrophy OMIM:616487|UMLS:C4225309 owl:Class MONDO:0007449 biolink:NamedThing dermo-odonto dysplasia Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. tmpak2llvmy_mondo_relaxed.owl dermo odontodysplasia|ectodermal dysplasia, hair-nail-Tooth type|dermoodonto dysplasia|dermo-odonto-dysplasia|DERMOODONTODYSPLASIA|dermo-odonto dysplasia MESH:C565103|UMLS:C4303591|OMIM:125640|ICD10:Q82.4|UMLS:C1852144|SCTID:721091003|GARD:0001816|Orphanet:1660 owl:Class HGNC:1810 biolink:NamedThing CDY2A tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:49274 biolink:NamedThing Solanum subgen. Lycopersicon tmpak2llvmy_mondo_relaxed.owl Lycopersicon GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007475 biolink:NamedThing duodenal ulcer, hyperpepsinogenemic 1 tmpak2llvmy_mondo_relaxed.owl duodenal Ulcer, hyperpepsinogenemic type 1|duodenal ulcer, hyperpepsinogenemic I OMIM:126850|UMLS:C1852008|MESH:C565086 owl:Class MONDO:0016446 biolink:NamedThing acquired cutis laxa An instance of cutis laxa that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl cutis laxa acquisita|acquired cutis laxa UMLS:C0406549|Orphanet:228285|SCTID:19726003 owl:Class MONDO:0041182 biolink:NamedThing polymorphic light eruption tmpak2llvmy_mondo_relaxed.owl polymorphic light eruption|polymorphic photodermatitis|polymorphous light eruption UMLS:C0031736|SCTID:238525001 owl:Class MONDO:0017164 biolink:NamedThing hemolytic disease of the newborn with Kell alloimmunization tmpak2llvmy_mondo_relaxed.owl maternal anti-Kell alloimmunization|anti-K HDN UMLS:CN202586|Orphanet:275944|ICD10:P55.8 owl:Class CL:0002585 biolink:NamedThing retinal blood vessel endothelial cell A blood vessel endothelial cell that is part of the retina. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T03:28:27Z cell owl:Class HGNC:1960 biolink:NamedThing CHRNA7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012317 biolink:NamedThing visceral neuropathy, familial, 3, autosomal dominant tmpak2llvmy_mondo_relaxed.owl pseudoobstruction, idiopathic intestinal|enteric neuropathy, familial|pseudoobstruction, chronic intestinal, neuropathic|visceral neuropathy, familial, autosomal dominant UMLS:C1864996|OMIM:609629 owl:Class MONDO:0022798 biolink:NamedThing Cohen lockood wyborney syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001423 https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome owl:Class MONDO:0015040 biolink:NamedThing myelodysplastic syndrome with excess blasts-1 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) tmpak2llvmy_mondo_relaxed.owl RAEB-1|MDS-EB-1|RAEB-I|myelodysplastic syndrome with Excess blasts-1|refractory anemia with excess blasts type 1 NCIT:C7167|ICD10:D46.2|UMLS:C1318550|Orphanet:100019 owl:Class HGNC:7631 biolink:NamedThing NAGA tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrM biolink:NamedThing chrM (Human) tmpak2llvmy_mondo_relaxed.owl 16569 0 hg38 owl:Class MONDO:0009262 biolink:NamedThing GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. tmpak2llvmy_mondo_relaxed.owl gangliosidosis, generalized GM1, adult type|GM1-gangliosidosis, type III|Beta-galactosidase deficiency type 3|adult-onset GM1 gangliosidosis|adult GM1 gangliosidosis|gangliosidosis, generalized GM1, chronic type|gangliosidosis, generalized GM1, type 3|GM1-gangliosidosis, type 3|gangliosidosis GM1 type 3|gangliosidosis generalized GM1 chronic type Orphanet:79257|DOID:0080489|SCTID:238027003|GARD:0002431|OMIM:230650|ICD10:E75.1 https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 owl:Class MONDO:0020866 biolink:NamedThing nasopharyngeal diphtheria Infection of the nasopharynx by Corynebacterium diphtheriae. tmpak2llvmy_mondo_relaxed.owl nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|Nasopharyngeal diphtheria UMLS:C0012558|NCIT:C34547|SCTID:75589004|ICD9:032.1 owl:Class HGNC:496 biolink:NamedThing RIPK4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:2000028 biolink:NamedThing cerebellum glutamatergic neuron Any glutamatergic neuron that is part of a cerebellum. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T00:24:10Z cell owl:Class MONDO:0017073 biolink:NamedThing cervical spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268762 owl:Class MONDO:0018051 biolink:NamedThing Jessner lymphocytic infiltration of the skin Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. tmpak2llvmy_mondo_relaxed.owl Jessner-Kanof lymphocytic infiltration of the skin|Jessner-Kanof syndrome|benign lymphocytic infiltration|lymphocytic infiltrate of Jessner|benign chronic T-cell infiltrative disorder|Jessner disease ICD10:L98.6|UMLS:C0580181|GARD:0006940|Orphanet:33314 https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner owl:Class MONDO:0004244 biolink:NamedThing proximal-type epithelioid sarcoma An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. tmpak2llvmy_mondo_relaxed.owl proximal-type epithelioid sarcoma|central epithelioid sarcoma|PTES NCIT:C27472|ONCOTREE:PTES|UMLS:C1335563|DOID:7492 owl:Class HP:0031258 biolink:NamedThing Delirium A state of sudden and severe confusion. tmpak2llvmy_mondo_relaxed.owl 2017-08-12 16:00:36+00:00 peter human_phenotype owl:Class MONDO:0017766 biolink:NamedThing disorder of manganese transport tmpak2llvmy_mondo_relaxed.owl UMLS:CN227208|Orphanet:309851|ICD10:E83.8 owl:Class MONDO:0043789 biolink:NamedThing serum sickness Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. tmpak2llvmy_mondo_relaxed.owl Sicknesses, serum|serum sickness|serum reaction|serum Sicknesses|sickness, serum|transfusion reaction due to serum protein reaction|protein sickness|intoxication by serum NCIT:C79718|EFO:1001845|SCTID:72284000|UMLS:C0036830|MESH:D012713 owl:Class MONDO:0007282 biolink:NamedThing cataract 29 A cataract that has material basis in variation in the region 2pter-p24. tmpak2llvmy_mondo_relaxed.owl cataract 29 coralliform|cataract 29|cataract type 29|cataract 29, coralliform|CTRCT29 OMIM:115800|UMLS:C3805409|DOID:0110232|ICD10:Q12.0 owl:Class MONDO:0010034 biolink:NamedThing anosmia for butyl mercaptan tmpak2llvmy_mondo_relaxed.owl skunk N-butyl mercaptan, inability to smell|skunk N-BUTYLMERCAPTAN, inability to smell OMIM:270350 Editor note: consider obsoleting and replacing with OBA trait owl:Class MONDO:0024344 biolink:NamedThing pityriasis folliculorum tmpak2llvmy_mondo_relaxed.owl pityriasis folliculorum UMLS:C0406312|SCTID:200993008|ICD9:696.5 owl:Class MONDO:0003783 biolink:NamedThing lymphopenia Reduction in the number of lymphocytes. tmpak2llvmy_mondo_relaxed.owl lymphopenia (disease)|lymphocytopenia|lymphopenia lymphopenia (disease) MESH:D008231|ICD10:D72.810|SCTID:48813009|HP:0001888|UMLS:C0024312|ICD9:288.51|ICD9:288.8|DOID:614 owl:Class HGNC:317 biolink:NamedThing AFP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005555 biolink:NamedThing cycloplegia Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. tmpak2llvmy_mondo_relaxed.owl paresis of accommodation|cycloplegic paralysis of accommodation|paralysis of accommodation|visual accommodation paralysis|ciliary muscle paresis|accommodative paresis|loss of accommodation|cycloplegia SCTID_2010_1_31:68158006|SCTID_2010_1_31:255335004|EFO:0005758|ICD10:H52.52|UMLS:C0235238|Wikipedia:Cycloplegia|ICD9:367.51|SCTID:68158006|SCTID_2010_1_31:232141000|DOID:10033 owl:Class MONDO:0001460 biolink:NamedThing dyshormonogenic goiter tmpak2llvmy_mondo_relaxed.owl UMLS:C0152077|ICD10:E07.1|DOID:12175|SCTID:190304001|ICD9:246.1 owl:Class HGNC:2678 biolink:NamedThing DARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016568 biolink:NamedThing Lowe-Kohn-Cohen syndrome Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. tmpak2llvmy_mondo_relaxed.owl deafness nephritis anorectal malformation|Lowe Kohn Cohen syndrome|dominant ano-rectal malformation, nephritis and nerve-deafness|deafness-nephritis-ano-rectal malformation syndrome|deafness - nephritis - ano-rectal malformation Orphanet:2408|GARD:0001695|MESH:C535996|UMLS:C2931080|SCTID:766249007|ICD10:Q87.8 Editor note: check GARD assignment https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation owl:Class MONDO:0011793 biolink:NamedThing celiac disease, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 5|celiac disease, susceptibility to, 5|CELIAC5|GSES OMIM:607202 owl:Class MONDO:0032740 biolink:NamedThing deafness, autosomal recessive 100 tmpak2llvmy_mondo_relaxed.owl DFNB100|DEAFNESS, AUTOSOMAL RECESSIVE 100 OMIM:618422|DOID:0111638 owl:Class MONDO:0005126 biolink:NamedThing tuberculoid leprosy A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. tmpak2llvmy_mondo_relaxed.owl smooth leprosy|tuberculoid leprosy [type T]|type T leprosy ICD10:A30.1|DOID:1025|MESH:D015441|SCTID:70143003|UMLS:C0023351|EFO:0001056|ICD9:030.1 owl:Class MONDO:0019953 biolink:NamedThing mega-cisterna magna tmpak2llvmy_mondo_relaxed.owl ICD10:Q07.8|Orphanet:97252 owl:Class MONDO:0013151 biolink:NamedThing choroidal dystrophy, central areolar, 3 tmpak2llvmy_mondo_relaxed.owl choroidal dystrophy, central areolar, with or without drusen|choroidal dystrophy, central areolar, 3|CACD3 UMLS:C2751055|OMIM:613144|MESH:C567729 owl:Class MONDO:0009090 biolink:NamedThing deafness, sensorineural, autosomal-mitochondrial type tmpak2llvmy_mondo_relaxed.owl deafness, sensorineural, autosomal-mitochondrial type DOID:0111752|OMIM:221745|MESH:C565637 owl:Class MONDO:0003586 biolink:NamedThing esophagus liposarcoma A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. tmpak2llvmy_mondo_relaxed.owl liposarcoma of esophagus|esophagus liposarcoma|esophageal liposarcoma|liposarcoma of the esophagus NCIT:C5705|DOID:5694|UMLS:C1333456 owl:Class GO:0043177 biolink:NamedThing organic acid binding Binding to an organic acid, any acidic compound containing carbon in covalent linkage. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011608 biolink:NamedThing atopic dermatitis 5 An atopic dermatitis associated with variation in the region 13q12-q14. tmpak2llvmy_mondo_relaxed.owl atopic dermatitis type 5|ATOD5|dermatitis, ATOPIC, 5 UMLS:C1853900|MESH:C565280|DOID:0110101|OMIM:605844 owl:Class MONDO:0009708 biolink:NamedThing myopathy, myosin storage, autosomal recessive tmpak2llvmy_mondo_relaxed.owl myopathy, hyaline body, autosomal recessive|MSMB|myopathy, myosin storage, autosomal recessive MESH:C564970|DOID:0111268|UMLS:C1850709|OMIM:255160 owl:Class MONDO:0010671 biolink:NamedThing microphthalmia, syndromic 1 tmpak2llvmy_mondo_relaxed.owl microphthalmia, syndromic 1|Maa, formerly|Lenz dysplasia|MCOPS1|Maa|Lenz microphthalmia syndrome|microphthalmia, syndromic type 1 OMIM:309800|SCTID:438504004|MESH:C537464|ICD9:759.89 owl:Class MONDO:0002951 biolink:NamedThing skin adenoid basal cell carcinoma A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. tmpak2llvmy_mondo_relaxed.owl skin adenoid basal cell carcinoma|adenoid basal cell carcinoma DOID:4294|NCIT:C27535|SCTID:402525008|ICDO:8098/3 Editor note: adenoid refers to histological subtype, not tonsils owl:Class HP:0000044 biolink:NamedThing Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpak2llvmy_mondo_relaxed.owl Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism|Isolated hypogonadotropic hypogonadism UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006|UMLS:C3489396 HP:0008224|HP:0003335 human_phenotype owl:Class MONDO:0033657 biolink:NamedThing leukodystrophy, hypomyelinating, 20 tmpak2llvmy_mondo_relaxed.owl HLD20 OMIM:619071 owl:Class MONDO:0006065 biolink:NamedThing lactose intolerance adult type Adult onset lactose intolerance tmpak2llvmy_mondo_relaxed.owl disaccharide intolerance 3|adult lactase deficiency|hypolactasia, adult type|lactose intolerance, ADULT type EFO:1000063|OMIM:223100 owl:Class MONDO:0011298 biolink:NamedThing schizophrenia 8 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. tmpak2llvmy_mondo_relaxed.owl schizophrenia 8|schizophrenia 8 with or without an affective disorder|SCZD8|schizophrenia susceptibility locus, chromosome 18-related DOID:0070084|UMLS:C1864124|OMIM:603206 owl:Class HGNC:13743 biolink:NamedThing ALOXE3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015987 biolink:NamedThing scimitar syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. tmpak2llvmy_mondo_relaxed.owl Epibronchial right pulmonary vein syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome|Halasz syndrome MESH:D012587|ICD9:747.49|MedDRA:10051951|ICD10:Q26.8|NCIT:C85056|UMLS:C0036400|SCTID:39905002|Orphanet:185 owl:Class MONDO:0016626 biolink:NamedThing hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:248305|ICD10:D55.2 Editor note: TODO find relevant GO class owl:Class MONDO:0020324 biolink:NamedThing intravascular large B-cell lymphoma Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. tmpak2llvmy_mondo_relaxed.owl intravascular large B-cell lymphoma|intravascular lymphomatosis|angioendotheliomatosis proliferans systemisata|angiotropic large cell lymphoma|Tappeiner-Pfleger disease|malignant angioendotheliomatosis|angiotropic lymphoma|intravascular B-cell lymphoma|IVBCL ONCOTREE:IVBCL|ICD9:202.80|ICDO:9712/3|UMLS:CN207146|NCIT:C4342|SCTID:255102004|ICD10:C83.3|MedDRA:10069643|Orphanet:98839 owl:Class MONDO:0000807 biolink:NamedThing latex allergy Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. tmpak2llvmy_mondo_relaxed.owl MESH:D020315|SCTID:300916003|ICD9:989.82|DOID:0060532|ICD9:V15.07|ICD9:995.3 Editor note: TODO request owl:Class CHEBI:76835 biolink:NamedThing EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). tmpak2llvmy_mondo_relaxed.owl oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* inhibitors|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor|EC 1.1.1.* inhibitor owl:Class CHEBI:76726 biolink:NamedThing EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). tmpak2llvmy_mondo_relaxed.owl EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* inhibitor|inhibitor of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donor|inhibitor of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group inhibitors|inhibitors of oxidoreductase acting on CH-OH group of donors owl:Class MONDO:0009555 biolink:NamedThing malocclusion and short stature tmpak2llvmy_mondo_relaxed.owl malocclusion and short stature MESH:C565421|UMLS:C1855453|OMIM:248350 owl:Class MONDO:0000363 biolink:NamedThing gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. tmpak2llvmy_mondo_relaxed.owl DOID:0050584 owl:Class NCBITaxon:63672 biolink:NamedThing Turbo tmpak2llvmy_mondo_relaxed.owl Turbo GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005719 biolink:NamedThing footplate apical ectodermal ridge An apical ectodermal ridge that is part of a footplate. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2731342 biolink:NamedThing Monodnaviria tmpak2llvmy_mondo_relaxed.owl single-stranded DNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013952 biolink:NamedThing peroxisome biogenesis disorder 13A (Zellweger) tmpak2llvmy_mondo_relaxed.owl PBD13A|peroxisome biogenesis disorder, complementation group K|peroxisome biogenesis disorder 13A (Zellweger) UMLS:C3554004|DOID:0080487|MESH:C566624|OMIM:614887 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100268 biolink:NamedThing peroxisome biogenesis disorder due to PEX14 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene. tmpak2llvmy_mondo_relaxed.owl PEX14 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX14 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008193 biolink:NamedThing paralysis agitans, juvenile, of Hunt tmpak2llvmy_mondo_relaxed.owl paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt SCTID:43647007|MESH:C562469|ICD9:333.0|GARD:0010359|OMIM:168100 https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt owl:Class MONDO:0009830 biolink:NamedThing parkinsonian-pyramidal syndrome A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. tmpak2llvmy_mondo_relaxed.owl autosomal recessive early-onset Parkinson disease 15|PARK15|autosomal recessive early-onset Parkinson's disease 15|autosomal recessive early-onset Parkinson disease type 15|pallidopyramidal syndrome|Parkinson disease 15, autosomal recessive early-onset|pallido-pyramidal disease|pallido-pyramidal syndrome|parkinsonian-pyramidal syndrome|Pallidopyramidal syndrome OMIM:260300|Orphanet:171695|GARD:0009175|ICD10:G20|MESH:C538104|DOID:0060372|UMLS:C1850100 owl:Class OBO:OBA_0000001 biolink:NamedThing biological attribute tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022556 biolink:NamedThing oculo-cerebral dysplasia tmpak2llvmy_mondo_relaxed.owl unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia|Behrens Baumann dust syndrome|Behrens-Baumann-Vogel syndrome GARD:0004021 Editor note: TODO update from ORDO https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia owl:Class HGNC:10001 biolink:NamedThing RGS5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011161 biolink:NamedThing sperm-specific antigen 1 tmpak2llvmy_mondo_relaxed.owl sperm-specific antigen 1|SSFA1|fertilization antigen 1|sperm-specific antigen type 1 OMIM:601876 owl:Class MONDO:0001548 biolink:NamedThing hepatic coma A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) tmpak2llvmy_mondo_relaxed.owl hepatocerebral intoxication DOID:12550|UMLS:C0019147|SCTID:72836002|ICD9:070.42|ICD10:K72.91 owl:Class MONDO:0001711 biolink:NamedThing hepatic encephalopathy Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. tmpak2llvmy_mondo_relaxed.owl portal-systemic encephalopathy|encephalopathy, hepatic|Hepatoencephalopathy DOID:13413|ICD10:K72|ICD9:572.2|SCTID:13920009|MESH:D006501|NCIT:C79596|UMLS:C0019151|GARD:0010452 https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy owl:Class MONDO:0019629 biolink:NamedThing sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. tmpak2llvmy_mondo_relaxed.owl isolated congenital sclerocornea|sclerocornea (disease)|sclerocornea sclerocornea (disease) DOID:0060252|Orphanet:91490|ICD10:Q13.3|HP:0000647|MESH:C565209 owl:Class MONDO:0007090 biolink:NamedThing amastia, bilateral, with ureteral triplication and dysmorphism tmpak2llvmy_mondo_relaxed.owl amastia, bilateral, with ureteral triplication and dysmorphism UMLS:C1863015|OMIM:104350|MESH:C566295 owl:Class NCBITaxon:740972 biolink:NamedThing Tritrichomonadida tmpak2llvmy_mondo_relaxed.owl Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001 PMID:20093080|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016616 biolink:NamedThing oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies tmpak2llvmy_mondo_relaxed.owl pauciarticular chronic arthritis without anti-nuclear antibodies|oligoarticular JIA without anti-nuclear antibodies ICD10:M08.4|UMLS:CN201824|Orphanet:247846 owl:Class MONDO:0019433 biolink:NamedThing oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. tmpak2llvmy_mondo_relaxed.owl Pauciarticular chronic arthritis|Pauciarticular JIA|Oligoarticular JIA|Pauciarticular juvenile idiopathic arthritis UMLS:C3898105|Orphanet:85410|UMLS:C2931171|NCIT:C119032|ICD10:M08.4|EFO:1002019|GARD:0004261|MESH:C536312 owl:Class MONDO:0017864 biolink:NamedThing congenital pulmonary veins atresia or stenosis Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. tmpak2llvmy_mondo_relaxed.owl pulmonary veins stenosis|pulmonary vein stenosis GARD:0004598|UMLS:C0340756|Orphanet:3188|ICD10:Q26.3|SCTID:234062003 owl:Class MONDO:0033362 biolink:NamedThing developmental and epileptic encephalopathy, 53 tmpak2llvmy_mondo_relaxed.owl DEE53|EIEE53|epileptic encephalopathy, early infantile, 53 DOID:0080464|UMLS:C4479313|OMIM:617389 owl:Class UBERON:0036268 biolink:NamedThing pelvic vein tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003302 biolink:NamedThing epithelioid neurofibroma A rare neurofibroma with epithelioid morphology. tmpak2llvmy_mondo_relaxed.owl epithelioid neurofibroma UMLS:C1275264|ICD9:215.9|NCIT:C6558|SCTID:404032008|DOID:5149 owl:Class MONDO:0015436 biolink:NamedThing ring chromosome 20 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. tmpak2llvmy_mondo_relaxed.owl chromosome 20 ring|R20|Ring chromosome type 20|Ring chromosome 20 syndrome|Ring 20 NCIT:C169001|SCTID:23686004|Orphanet:1444|MESH:C580424|ICD9:758.89|ICD10:Q93.2|GARD:0001334 https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 owl:Class MAXO:0000014 biolink:NamedThing radiation therapy Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation. tmpak2llvmy_mondo_relaxed.owl radiotherapeutics|radiation therapy procedure|RT|radiotherapy|radiation owl:Class UBERON:0018146 biolink:NamedThing transverse process of lumbar vertebra A transverse process that is part of a lumbar vertebra tmpak2llvmy_mondo_relaxed.owl lumbar transverse process|costa lumbalis owl:Class HGNC:5383 biolink:NamedThing IDH2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26513 biolink:NamedThing NSMCE2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010748 biolink:NamedThing torticollis-keloids-cryptorchidism-renal dysplasia syndrome Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. tmpak2llvmy_mondo_relaxed.owl torticollis keloids cryptorchidism renal dysplasia|Tkc|Goeminne syndrome|TKCR|torticollis, keloids, cryptorchidism, and renal dysplasia|Tkcr syndrome Orphanet:3341|OMIM:314300|ICD10:Q87.8|UMLS:C1839129|MESH:C536970|GARD:0005230 owl:Class MONDO:0004323 biolink:NamedThing muscular atrophy The loss of muscle tissue due to inactivity or disease. tmpak2llvmy_mondo_relaxed.owl muscle wasting|wasting - muscle|amyotrophia ICD9:728.2|SCTID:88092000|DOID:767|MESH:D009133 owl:Class HGNC:1349 biolink:NamedThing SAMD9L tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002210 biolink:NamedThing syndesmosis Fibrous joint in which the articulating bones or cartilages of the vertebral column and the limbs as well as articulating ossicles, are connected by skeletal ligaments or membranes. Examples: Intervertebral syndesmosis, inferior tibiofibular joint.[FMA] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004524 biolink:NamedThing thyroid gland atypical follicular adenoma A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. tmpak2llvmy_mondo_relaxed.owl atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality)|thyroid gland atypical follicular adenoma UMLS:C1266046|NCIT:C27729|ICDO:8330/1|DOID:8292 owl:Class MONDO:0020687 biolink:NamedThing supratentorial ependymal tumor An ependymal tumor arising from the supratentorial region of the brain. tmpak2llvmy_mondo_relaxed.owl supratentorial ependymal tumor NCIT:C131611 owl:Class MONDO:0015724 biolink:NamedThing non-distal trisomy 13q Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. tmpak2llvmy_mondo_relaxed.owl non-telomeric trisomy 13q|non-distal duplication 13q|non-distal trisomy type 13q ICD10:Q92.3|SCTID:764996009|Orphanet:1702 owl:Class NCBITaxon:194 biolink:NamedThing Campylobacter tmpak2llvmy_mondo_relaxed.owl PMID:12361288|GC_ID:11|PMID:1704793|PMID:16627635|PMID:19801389|PMID:29034857|PMID:11542086 ncbi_taxonomy owl:Class MONDO:0008644 biolink:NamedThing velocardiofacial syndrome A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. tmpak2llvmy_mondo_relaxed.owl 22q11 deletion syndrome|Vcf syndrome|chromosome 22Q11.2 deletion syndrome|velocardiofacial syndrome|deletion 22q11.2 syndrome|Shprintzen Vcf syndrome|VCF-velocardiofacial syndrome|Shprintzen syndrome UMLS:CN205308|ICD10:Q93.81|ICD9:758.32|DOID:12583|OMIM:192430 owl:Class UBERON:0005327 biolink:NamedThing mesonephric glomerular epithelium A mesonephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the mesonephros[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001135 biolink:NamedThing desert planet A terrestrial planet which has a surface dominated by hot deserts. tmpak2llvmy_mondo_relaxed.owl dry planet owl:Class MONDO:0010462 biolink:NamedThing syndromic X-linked intellectual disability Chudley-Schwartz type A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|mental retardation, X-linked, syndromic, Chudley-Schwartz type|MRXSCS DOID:0060819|UMLS:C3275471|OMIM:300861 owl:Class MONDO:0010570 biolink:NamedThing craniofrontonasal syndrome Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. tmpak2llvmy_mondo_relaxed.owl craniofrontonasal dysplasia|craniofrontonasal dysostosis|CFND|CFNS|craniofrontonasal syndrome DOID:14737|OMIM:304110|Orphanet:1520|MESH:C536456|UMLS:C0220767|GARD:0001578|SCTID:715421009|ICD10:Q87.1 owl:Class MONDO:0011938 biolink:NamedThing atrial septal defect 2 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpak2llvmy_mondo_relaxed.owl atrial heart septal defect type 2|atrial septal defect 2|atrial heart septal defect caused by mutation in GATA4|atrial septal defect type 2|ASD2|GATA4 atrial heart septal defect MESH:C538263|UMLS:C1842778|ICD10:Q21.1|OMIM:607941|DOID:0110107 owl:Class CHEBI:38070 biolink:NamedThing anti-arrhythmia drug A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres. tmpak2llvmy_mondo_relaxed.owl antiarrhythmic agent|anti-arrhythmia agent owl:Class MONDO:0009308 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-negative tmpak2llvmy_mondo_relaxed.owl granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD due to deficiency of the Alpha Subunit of cytochrome B|Cyba deficiency|CGD, autosomal recessive cytochrome B-negative OMIM:233690|DOID:0070193|MESH:C565533|UMLS:C1856255 owl:Class MONDO:0006131 biolink:NamedThing cerebellar liponeurocytoma A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl cerebellar liponeurocytoma|lipomatous medulloblastoma (formerly)|CLNC|lipomatous medulloblastoma|cerebellar liponeurocytoma (WHO grade II) Orphanet:251931|GARD:0010642|ICDO:0000/0|EFO:1000159|ONCOTREE:CLNC|SCTID:716592003|DOID:6458|UMLS:C1370507|NCIT:C6905 https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma owl:Class CHEBI:137980 biolink:NamedThing metalloid atom An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included. tmpak2llvmy_mondo_relaxed.owl metalloid|metalloids owl:Class GO:0016627 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on the CH-CH group of donors, other acceptors owl:Class HGNC:11536 biolink:NamedThing TAF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032915 biolink:NamedThing long QT syndrome 16 tmpak2llvmy_mondo_relaxed.owl long QT syndrome 16|Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LQT16|LONG QT SYNDROME 16 OMIM:618782 owl:Class MONDO:0017184 biolink:NamedThing autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). tmpak2llvmy_mondo_relaxed.owl autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency UMLS:CN202625|UMLS:C4274080|SCTID:717046003|ICD10:E16.1|Orphanet:276575 owl:Class MONDO:0002967 biolink:NamedThing dermatophytosis of scalp or beard Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. tmpak2llvmy_mondo_relaxed.owl tinea capitis|dermatophytosis of scalp and beard|tinea capitis due to Trichophyton rubrum|scalp dermatophytosis|scalp ringworm|dermatophytosis of scalp|Trichophyton rubrum tinea capitis SCTID:266148000|UMLS:C1274426|UMLS:C0011640|DOID:4337|NCIT:C34536|ICD9:110.0 owl:Class HGNC:17082 biolink:NamedThing MLC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011965 biolink:NamedThing familial temporal lobe epilepsy 2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3. tmpak2llvmy_mondo_relaxed.owl Ftle|epilepsy, familial temporal lobe, 2|epilepsy, familial temporal lobe|temporal epilepsy, familial|familial temporal lobe epilepsy|ETL2|familial temporal lobe epilepsy type 2 ICD10:G40.2|MESH:C536956|GARD:0005135|OMIM:608096|Orphanet:98819|DOID:0060755 owl:Class MONDO:0018085 biolink:NamedThing umbilical cord ulceration-intestinal atresia syndrome Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. tmpak2llvmy_mondo_relaxed.owl umbilical cord ulceration and intestinal atresia|umbilical cord ulcer with intestinal atresia|umbilical ulceration and intestinal atresia Orphanet:3405|UMLS:C2931371|GARD:0005403|MESH:C536938 owl:Class MONDO:0032712 biolink:NamedThing combined oxidative phosphorylation deficiency 38 tmpak2llvmy_mondo_relaxed.owl COXPD38|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 DOID:0111466|OMIM:618378 owl:Class CL:0002108 biolink:NamedThing CD38-negative IgG memory B cell A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0009560 biolink:NamedThing oculotrichoanal syndrome tmpak2llvmy_mondo_relaxed.owl Marles syndrome|Marles-Greenberg-Persaud syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies|Manitoba oculotrichoanal syndrome|MOTA|MOTA syndrome|Manitoba Trichoanal syndrome|MANITOBA oculotrichoanal syndrome SCTID:703539006|MESH:C536022|OMIM:248450|ICD9:759.89|GARD:0003395|ICD10:Q87.8|Orphanet:2717|UMLS:C1855425 owl:Class MONDO:0004458 biolink:NamedThing bladder mixed adenocarcinoma tmpak2llvmy_mondo_relaxed.owl DOID:8096|NCIT:C39839|UMLS:C1511192 owl:Class MONDO:0014099 biolink:NamedThing nephrotic syndrome, type 8 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. tmpak2llvmy_mondo_relaxed.owl ARHGDIA nephrotic syndrome|nephrotic syndrome caused by mutation in ARHGDIA|nephrotic syndrome, type 8|NPHS8 DOID:0080389|UMLS:C3808953|OMIM:615244 owl:Class MONDO:0008493 biolink:NamedThing overhydrated hereditary stomatocytosis Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl stomatocytosis I|Potassium sodium disorder of erythrocyte|OHS|Potassium-sodium disorder of erythrocyte|OVERHYDRATED hereditary stomatocytosis|overhydrated hereditary stomatocytosis|OHST|stomatocytosis 1 MESH:C566111|GARD:0004183|OMIM:185000|ICD10:D58.8|UMLS:C1861455|Orphanet:3203|SCTID:722125003|DOID:0111562 owl:Class HGNC:7029 biolink:NamedThing MET tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030042 biolink:NamedThing proteinuria, chronic benign tmpak2llvmy_mondo_relaxed.owl PROTEINURIA, CHRONIC BENIGN|proteinuria, chronic benign|PROCHOB OMIM:618884 owl:Class MONDO:0007241 biolink:NamedThing bundle branch block, familial isolated complete right tmpak2llvmy_mondo_relaxed.owl bundle branch block, familial isolated complete right MESH:C562759|OMIM:113950|SCTID:233919006|UMLS:C0340504 owl:Class MONDO:0033480 biolink:NamedThing spinocerebellar ataxia 45 tmpak2llvmy_mondo_relaxed.owl SCA45|spinocerebellar ataxia 45 UMLS:CN623017|DOID:0080287|Orphanet:589527|OMIM:617769 owl:Class MONDO:0009183 biolink:NamedThing junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. tmpak2llvmy_mondo_relaxed.owl EB-Pa-ACC|epidermolysis bullosa junctionalis with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|JEB-PA|junctional epidermolysis bullosa with pyloric atresia|Carmi syndrome|epidermolysis bullosa, junctional, with pyloric atresia|JEB-Pa|junctional epidermolysis bullosa-pyloric atresia syndrome|aplasia cutis congenita with gastrointestinal atresia|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa with pyloric atresia GARD:0009694|MESH:C535377|ICD10:Q81.8|DOID:0060733|UMLS:C1856934|Orphanet:79403|OMIM:226730 https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia owl:Class MONDO:0012708 biolink:NamedThing primary lateral sclerosis, adult, 1 tmpak2llvmy_mondo_relaxed.owl primary lateral sclerosis, ADULT, 1|PLSA1|Pls, adult OMIM:611637|MESH:C566900 owl:Class MONDO:0020547 biolink:NamedThing chronic graft versus host disease Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications. tmpak2llvmy_mondo_relaxed.owl graft versus host disease, chronic|GVHD, chronic|chronic GVHD Orphanet:99921|SCTID:402356004|GARD:0010964|NCIT:C4981|UMLS:C0867389|MedDRA:10066261|ICD10:D89.811|ICD10:T86.0|ICD9:279.52 https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease owl:Class HP:0100299 biolink:NamedThing Muscle fiber inclusion bodies tmpak2llvmy_mondo_relaxed.owl Muscle fibre inclusion bodies UMLS:C4022159 This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. doelkens 2010-08-10T02:21:34Z human_phenotype owl:Class MONDO:0020631 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 2 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, infantile or early childhood, 2|IECEE2 OMIM:617829|DOID:0080471|UMLS:CN757794 owl:Class MONDO:0009523 biolink:NamedThing Lichtenstein syndrome Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Lichtenstein syndrome|neutropenia immunoglobulin deficiency peculiar facies and bony anomalies SCTID:763668009|MESH:C535894|Orphanet:2390|UMLS:C1855502|OMIM:246550|GARD:0003248 https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome owl:Class MONDO:0030999 biolink:NamedThing neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism tmpak2llvmy_mondo_relaxed.owl NEDCAFD OMIM:619244 owl:Class MONDO:0032685 biolink:NamedThing infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development tmpak2llvmy_mondo_relaxed.owl CASGID|infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development|INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618339 owl:Class MONDO:0009711 biolink:NamedThing congenital fiber-type disproportion myopathy A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. tmpak2llvmy_mondo_relaxed.owl CFTD|congenital fiber-type disproportion|myopathy, congenital, with fiber-type disproportion|myopathy, congenital with fiber-type disproportion|congenital fiber type disproportion|congenital myopathy with fiber type disproportion|CFTDM|congenital myopathy with fibre type disproportion|fiber-type disproportion myopathy, congenital GARD:0006161|Orphanet:2020|DOID:0080102|OMIM:255310|ICD10:G71.2|UMLS:C0546264|NCIT:C120046 owl:Class MONDO:0100371 biolink:NamedThing acute hepatitis C virus infection A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics. tmpak2llvmy_mondo_relaxed.owl acute hepatitis C NCIT:C157782 owl:Class MONDO:0023221 biolink:NamedThing Gaucher ichthyosis restrictive dermopathy tmpak2llvmy_mondo_relaxed.owl GARD:0002444 https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy owl:Class MONDO:0026723 biolink:NamedThing intellectual developmental disorder, X-linked 108 tmpak2llvmy_mondo_relaxed.owl MRX108|Mental Retardation, X-Linked 108|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 OMIM:301024 owl:Class MONDO:0008181 biolink:NamedThing palmaris longus muscle, absence of tmpak2llvmy_mondo_relaxed.owl palmaris longus muscle, absence of OMIM:167600 owl:Class MONDO:0004234 biolink:NamedThing chronic lymphoproliferative disorder of NK-cells An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. tmpak2llvmy_mondo_relaxed.owl NK-type lymphoproliferative disorder of granular lymphocytes|natural killer-cell large granular lymphocyte leukemia|chronic lymphoproliferative disorder of NK-cells|NK-cell lineage granular lymphocyte proliferative disorder|NK-cell large granular lymphocyte lymphocytosis|chronic NK lymphocytosis|CNKL|chronic NK-LGL lymphoproliferative disorder|indolent large granular NK-cell lymphoproliferative disorder|NK-LGL leukemia|chronic NK-cell lymphocytosis|NK-LGLL|indolent NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of natural killer cells|CLPD-NK|chronic NK-large granular lymphocyte lymphoproliferative disorder DOID:7465|NCIT:C39591|Orphanet:512017|ICDO:9831/3|SCTID:722955006|UMLS:C1512709 owl:Class MONDO:0008677 biolink:NamedThing widow's peak tmpak2llvmy_mondo_relaxed.owl widow's peak|widow'S peak|widow's peak (disease) widow's peak (disease) OMIM:194000|HP:0000349 owl:Class MONDO:0015351 biolink:NamedThing neuropathy with hearing impairment This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl UMLS:CN199414|Orphanet:139512|SCTID:723497003|ICD10:G60.8 owl:Class MONDO:0054740 biolink:NamedThing blepharocheilodontic syndrome 1 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. tmpak2llvmy_mondo_relaxed.owl blepharo-cheilo-odontic syndrome caused by mutation in CDH1|Lagophthalmia with bilateral cleft 51P and palate|clefting, ectropion, and conical teeth|CDH1 blepharo-cheilo-odontic syndrome|blepharocheilodontic syndrome|BCDS1|ectropion, Inferior, with cleft 51P and/Or palate|BCD syndrome|elschnig syndrome|blepharocheilodontic syndrome 1 OMIM:119580|DOID:0080345 owl:Class MONDO:0013003 biolink:NamedThing isolated congenital hypoglossia/aglossia Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). tmpak2llvmy_mondo_relaxed.owl hypoglossia with situs inversus|hypoglossia, isolated ICD10:Q38.3|Orphanet:141152|OMIM:612776|UMLS:C2748587 owl:Class MONDO:0018270 biolink:NamedThing extraskeletal Ewing sarcoma A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. tmpak2llvmy_mondo_relaxed.owl extraosseous Ewing sarcoma|extraosseous Ewing tumor|extraskeletal Ewing tumor|extraosseous Ewing's sarcoma|extraskeletal Ewing sarcoma|EOE|Extra-osseous Ewing's sarcoma|extraskeletal Ewing's sarcoma|extraosseous Ewing's tumor UMLS:C0279980|Orphanet:370334|NCIT:C7135|ICD10:C49.9|DOID:4232|UMLS:CN204849 owl:Class PR:000001281 biolink:NamedThing ADP-ribosyl cyclase tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019789 biolink:NamedThing cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. tmpak2llvmy_mondo_relaxed.owl Winkelmann cytophagic panniculitis|CHP Orphanet:94087|SCTID:238883003|UMLS:C0406594|ICD10:M35.8 owl:Class CHEBI:60164 biolink:NamedThing ionic polymer An ionic polymer is a polymer, composed of ionic macromolecules. tmpak2llvmy_mondo_relaxed.owl polyionic polymer owl:Class MONDO:0011987 biolink:NamedThing cone-rod dystrophy 13 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 13|cone-rod dystrophy 13|CORD13|cone-rod dystrophy caused by mutation in RPGRIP1|RPGRIP1 cone-rod dystrophy DOID:0111016|OMIM:608194|UMLS:C2750720|MESH:C567698 owl:Class HGNC:6848 biolink:NamedThing MAP3K1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011494 biolink:NamedThing hyaluronan metabolism, defect 1N tmpak2llvmy_mondo_relaxed.owl hyaluronan metabolism, defect IN|hyaluronan metabolism, defect type 1N UMLS:C1858083|OMIM:604855|MESH:C565742 owl:Class MONDO:0018684 biolink:NamedThing idiopathic neonatal atrial flutter Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. tmpak2llvmy_mondo_relaxed.owl neonatal cardiac dysrhythmia UMLS:CN205105|SCTID:715560009|Orphanet:45452|ICD10:P29.1 owl:Class MONDO:0005191 biolink:NamedThing metastatic melanoma A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpak2llvmy_mondo_relaxed.owl metastatic malignant melanoma|metastatic melanoma UMLS:C0278883|EFO:0002617|SCTID:443493003|NCIT:C8925 owl:Class NCBITaxon:71584 biolink:NamedThing Balantidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:21497 biolink:NamedThing ACAD9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003834 biolink:NamedThing gastric cardia carcinoma A carcinoma that arises from epithelial cells of the cardia of stomach. tmpak2llvmy_mondo_relaxed.owl gastric cardia (stomach) cancer|cancer of gastric cardia|gastric cardia cancer|carcinoma of cardia of stomach|cardia of stomach carcinoma|carcinoma of the gastric cardia|cancer of the gastric cardia|carcinoma of gastric cardia|carcinoma of the cardia of the stomach DOID:6270|NCIT:C6794|EFO:1001252|UMLS:C1333763 owl:Class GO:0008483 biolink:NamedThing transaminase activity Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. tmpak2llvmy_mondo_relaxed.owl aminotransferase activity owl:Class MONDO:0032768 biolink:NamedThing developmental and epileptic encephalopathy, 76 tmpak2llvmy_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76|EIEE76|DEE76|Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|epileptic encephalopathy, early infantile, 76 OMIM:618468 owl:Class CHEBI:26819 biolink:NamedThing sulfuric ester An ester of an alcohol and sulfuric acid. tmpak2llvmy_mondo_relaxed.owl sulfuric acid ester|sulfuric acid esters|sulfate ester owl:Class MONDO:0007601 biolink:NamedThing familial Mediterranean fever, autosomal dominant tmpak2llvmy_mondo_relaxed.owl Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant UMLS:C1851347|MESH:C565021|OMIM:134610 owl:Class MONDO:0012697 biolink:NamedThing otosclerosis 7 tmpak2llvmy_mondo_relaxed.owl OTSC7|otosclerosis 7 UMLS:C1969044|MESH:C566913|OMIM:611572 owl:Class MONDO:0008080 biolink:NamedThing neurofibromatosis, type III, mixed central and peripheral tmpak2llvmy_mondo_relaxed.owl neurofibromatosis, type III, of Riccardi|Nf 3|neurofibromatosis, type III, Riccardi type|neurofibromas, palmar cutaneous|neurofibromatosis, type III, mixed central and peripheral|NF3A SCTID:254240003|OMIM:162260|MESH:C537389 owl:Class MONDO:0015731 biolink:NamedThing high anorectal malformation High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence. tmpak2llvmy_mondo_relaxed.owl ICD10:Q42.1|Orphanet:171201|ICD9:751.5|SCTID:253771003|ICD10:Q42.0 owl:Class MONDO:0019123 biolink:NamedThing continuous spikes and waves during sleep Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. tmpak2llvmy_mondo_relaxed.owl CSWSS syndrome|continuous spikes and waves during slow-wave sleep|epileptic encephalopathy with continuous spike-and-wave during slow sleep|CSWS UMLS:CN205644|ICD10:F80.3|UMLS:C3806403|UMLS:CN181337|Orphanet:725 owl:Class MONDO:0014855 biolink:NamedThing intellectual disability, autosomal dominant 42 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene. tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant type 42|autosomal dominant mental retardation 42|mental retardation, autosomal dominant 42|MRD42|autosomal dominant intellectual disability 42|Gnb1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|autosomal dominant non-syndromic intellectual disability 42|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|intellectual disability, autosomal dominant type 42|intellectual disability, autosomal dominant 42|GNB1 autosomal dominant non-syndromic intellectual disability DOID:0070072|UMLS:C4310774|OMIM:616973 Editor note: check status as syndromic owl:Class MONDO:0009098 biolink:NamedThing dextrocardia with unusual facies and microphthalmia tmpak2llvmy_mondo_relaxed.owl dextrocardia with unusual facies and microphthalmia|Aughton syndrome|dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability MESH:C538269|OMIM:221950|GARD:0000136|UMLS:C1857298 https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia owl:Class HP:0004327 biolink:NamedThing Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. tmpak2llvmy_mondo_relaxed.owl Abnormal vitreous humour morphology UMLS:C4025356 The vitreous humor is the clear gel that fills the space between the lens and the retina. peter 2008-02-27T04:20:00Z human_phenotype owl:Class MONDO:0016668 biolink:NamedThing sickle cell-beta-thalassemia disease syndrome Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl Hb S beta-thalassemia|sickle cell-Beta-thalassemia|sickle beta thalassemia|HbS-beta-thalassemia syndrome|Hb S-Beta thalassemia|Hemoglobin sickle-beta thalassemia|S-Beta thalassemia|sickle cell-Beta thalassemia|sickle cell-beta-thalassemia disease syndrome|sickle cell - beta-thalassemia disease|HbS - beta-thalassemia NCIT:C95539|MedDRA:10055579|SCTID:127041004|MedDRA:10040655|ICD10:D57.2|Orphanet:251359|GARD:0010333 https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia owl:Class MONDO:0008232 biolink:NamedThing phagocytosis, plasma-related defect 1N tmpak2llvmy_mondo_relaxed.owl phagocytosis, plasma-RELATED defect IN|phagocytosis, plasma-related defect type 1N UMLS:C1868402|MESH:C566808|OMIM:171100 owl:Class MONDO:0016316 biolink:NamedThing mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. tmpak2llvmy_mondo_relaxed.owl MPSIIB|mucopolysaccharidosis type 2B|mucopolysaccharidosis type IIB|iduronate 2-sulfatase deficiency type B|MPS2B|mucopolysaccharidosis type 2, attenuated form|mucopolysaccharidosis type II, attenuated form|Hunter syndrome type B Orphanet:217093|UMLS:CN201132|ICD10:E76.1 owl:Class MONDO:0008619 biolink:NamedThing ulna metaphyseal dysplasia syndrome Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. tmpak2llvmy_mondo_relaxed.owl Rosenberg-Lohr syndrome|metaphyseal chondrodysplasia, Rosenberg type|ulna metaphyseal dysplasia syndrome|metaphyseal chondroplasia Rosenberg type|Rosenberg Lohr syndrome|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna GARD:0004740|MESH:C536935|UMLS:C1860615|ICD10:Q78.5|SCTID:715242008|Orphanet:1837|OMIM:191420 https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome owl:Class MONDO:0007835 biolink:NamedThing intussusception Telescoping or invagination of a part of the intestine into an adjacent segment. tmpak2llvmy_mondo_relaxed.owl invagination of intestine or colon|intussusception of intestine|intussusception|intussusception (morphologic abnormality) SCTID:49723003|ICD10:K56.1|ICD9:560.0|MESH:D007443|UMLS:C0021933|DOID:8446|OMIM:147710 owl:Class MONDO:0032927 biolink:NamedThing triokinase and FMN cyclase deficiency syndrome tmpak2llvmy_mondo_relaxed.owl TKFCD|TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME OMIM:618805 owl:Class NCBITaxon:36855 biolink:NamedThing Brucella canis tmpak2llvmy_mondo_relaxed.owl Brucella melitensis bv. Canis|Brucella melitensis biovar Canis GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012662 biolink:NamedThing Usher syndrome type 2D Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. tmpak2llvmy_mondo_relaxed.owl Usher syndrome, type 2D|Usher syndrome caused by mutation in WHRN|Usher syndrome type IID|Usher syndrome type 2D|USHER syndrome, type IID|USH2D|WHRN Usher syndrome OMIM:611383|ICD10:H35.5|DOID:0110840 owl:Class UBERON:0004888 biolink:NamedThing right lung hilus A lung hilus that is part of the right lung. tmpak2llvmy_mondo_relaxed.owl hilus of right lung|right lung hilum|hilum of right lung|right pulmonary hilum|right pulmonary hilus owl:Class CHEBI:78113 biolink:NamedThing fatty acid anion 3:0 Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl fatty acid 3:0 owl:Class MONDO:0023046 biolink:NamedThing ectodermal dysplasia blindness tmpak2llvmy_mondo_relaxed.owl GARD:0002045 https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness owl:Class MONDO:0017511 biolink:NamedThing split hand, unilateral Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpak2llvmy_mondo_relaxed.owl ICD10:Q71.6|Orphanet:295120 owl:Class HP:0003133 biolink:NamedThing Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025647 human_phenotype owl:Class MONDO:0015349 biolink:NamedThing progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. tmpak2llvmy_mondo_relaxed.owl SCTID:719267003|ICD10:E75.2|Orphanet:139447|UMLS:C4304840 owl:Class MONDO:0006848 biolink:NamedThing marasmus The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. tmpak2llvmy_mondo_relaxed.owl nutritional marasmus|nutritional atrophy SCTID:29740003|EFO:1001033|UMLS:C0086588|DOID:12328|MedDRA:10026820|ICD9:261|ICD10:E41 owl:Class GO:0071295 biolink:NamedThing cellular response to vitamin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042458 biolink:NamedThing Trichinella spiralis infectious disease An disease or disorder caused by infection with Trichinella spiralis. tmpak2llvmy_mondo_relaxed.owl Trichinella spiralis disease or disorder|trichinosis caused by Trichinella spiralis|infection by larvae of Trichinella spiralis|infection caused by larvae of Trichinella spiralis|Trichinella spiralis caused disease or disorder|trichinellosis caused by Trichinella spiralis|trichiniasis caused by Trichinella spiralis|trichinelliasis caused by Trichinella spiralis SCTID:88264003|UMLS:C3887668 owl:Class MONDO:0022496 biolink:NamedThing arthrogryposis IUGR thoracic dystrophy A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. tmpak2llvmy_mondo_relaxed.owl Van Bervliet syndrome GARD:0000782 https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy owl:Class MONDO:0022938 biolink:NamedThing deafness goiter stippled epiphyses tmpak2llvmy_mondo_relaxed.owl GARD:0001689 https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses owl:Class HGNC:14372 biolink:NamedThing SCYL1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0011585 biolink:NamedThing cell condensation Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0029141 biolink:NamedThing Usher syndrome, type 4 tmpak2llvmy_mondo_relaxed.owl USH4|Usher syndrome, type IV OMIM:618144 owl:Class MONDO:0004283 biolink:NamedThing vulvar clear cell hidradenocarcinoma A vulvar sweat gland carcinoma characterized by the presence of clear cells. tmpak2llvmy_mondo_relaxed.owl vulvar clear cell hidradenocarcinoma UMLS:C1520076|DOID:7567|NCIT:C40307 owl:Class MONDO:0100421 biolink:NamedThing acute myeloid leukemia, GATA1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.) tmpak2llvmy_mondo_relaxed.owl AML, GF-1 Gene Mutation|AML, GATA1 gene mutation|AML, GATA-1 Gene Mutation|AML, GF1 Gene Mutation|AML, GATA1 Mutation|AML, GATA Binding Protein 1 Gene Mutation|AML, ERYF1 Gene Mutation|AML, NFE1 Gene Mutation|AML, NF-E1 Gene Mutation owl:Class GO:1905114 biolink:NamedThing cell surface receptor signaling pathway involved in cell-cell signaling Any cell surface receptor signaling pathway that is involved in cell-cell signaling. tmpak2llvmy_mondo_relaxed.owl cell surface receptor linked signalling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling owl:Class HGNC:6026 biolink:NamedThing CXCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0000349 biolink:NamedThing limbic system A set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. tmpak2llvmy_mondo_relaxed.owl visceral brain owl:Class NCBITaxon:60516 biolink:NamedThing Dibothriocephalus latus tmpak2llvmy_mondo_relaxed.owl Diphyllobothrium latum|broad fish tapeworm GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6340 biolink:NamedThing Annelida tmpak2llvmy_mondo_relaxed.owl segmented worms|annelid worms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010208 biolink:NamedThing wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). tmpak2llvmy_mondo_relaxed.owl wrinkled skin syndrome|WSS|wrinkly skin syndrome UMLS:C0406587|ICD9:259.8|SCTID:238875009|ICD10:Q82.8|Orphanet:2834|GARD:0000273|MESH:C536750|OMIM:278250 owl:Class MONDO:0012679 biolink:NamedThing autosomal recessive osteopetrosis 6 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive osteopetrosis intermediate form|osteopetrosis, autosomal recessive, Intermediate form|osteopetrosis, autosomal recessive 6|intermediate osteopetrosis|PLEKHM1 osteopetrosis (disease)|autosomal recessive osteopetrosis type 6|osteopetrosis autosomal recessive intermediate form|OPTB6|autosomal recessive intermediate osteopetrosis|osteopetrosis (disease) caused by mutation in PLEKHM1|osteopetrosis autosomal recessive 6|osteopetrosis, autosomal recessive type 6 ICD10:Q78.2|MESH:C566931|GARD:0004156|Orphanet:210110|DOID:0110945|OMIM:611497|UMLS:C1969093 https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 owl:Class MONDO:0010081 biolink:NamedThing subaortic stenosis, membranous tmpak2llvmy_mondo_relaxed.owl subaortic stenosis, membranous OMIM:271950|MESH:C564793 owl:Class MONDO:0005810 biolink:NamedThing infectious mononucleosis A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. tmpak2llvmy_mondo_relaxed.owl monocytic angina|mononucleosis|Mono|Gammaherpesviral mononucleosis|Pfeiffer's disease|Filatov's disease|glandular fever MESH:D007244|ICD10:B27|UMLS:C0021345|NCIT:C34726|SCTID:186668002|ICD10:B27.9|DOID:8568|ICD9:075|ICD10:B27.0|EFO:0007326 owl:Class MONDO:0019906 biolink:NamedThing ring chromosome 11 Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. tmpak2llvmy_mondo_relaxed.owl Ring chromosome type 11|Ring chromosome 11 syndrome|r11|chromosome 11 ring|RC11|r(11) syndrome|Ring 11 ICD10:Q93.2|Orphanet:96175|UMLS:C0265444|GARD:0010846|SCTID:111310003|ICD9:758.89|EFO:0002849 https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 owl:Class CHEBI:131699 biolink:NamedThing EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7). tmpak2llvmy_mondo_relaxed.owl DNA polymerase III inhibitors|sequenase inhibitor|deoxyribonucleic polymerase inhibitors|DNA polymerase beta inhibitor|deoxyribonucleic polymerase I inhibitors|DNA polymerase alpha inhibitors|DNA polymerase inhibitor|deoxynucleate polymerase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitor|DNA polymerase II inhibitor|DNA polymerase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitor|DNA polymerase I inhibitors|DNA nucleotidyltransferase inhibitor|deoxyribonucleic acid polymerase inhibitors|DNA duplicase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|deoxyribonucleic polymerase inhibitor|DNA duplicase inhibitor|deoxyribonucleic acid polymerase inhibitor|DNA polymerase beta inhibitors|DNA-dependent DNA polymerase inhibitors|DNA-dependent DNA polymerase inhibitor|Taq Pol I inhibitors|DNA replicase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitors|deoxyribonucleic duplicase inhibitors|Klenow fragment inhibitors|Taq DNA polymerase inhibitor|deoxyribonucleic duplicase inhibitor|deoxyribonucleic acid duplicase inhibitor|deoxynucleate polymerase inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|Tca DNA polymerase inhibitor|DNA polymerase gamma inhibitors|duplicase inhibitors|deoxyribonucleic acid duplicase inhibitors|DNA polymerase III inhibitor|DNA polymerase I inhibitor|Taq DNA polymerase inhibitors|EC 2.7.7.7 inhibitor|Klenow fragment inhibitor|DNA replicase inhibitors|DNA nucleotidyltransferase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|EC 2.7.7.7 inhibitors|Tca DNA polymerase inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|duplicase inhibitor|DNA polymerase II inhibitors|Taq Pol I inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|DNA polymerase gamma inhibitor|sequenase inhibitors|DNA polymerase alpha inhibitor|deoxyribonucleic polymerase I inhibitor owl:Class MONDO:0044800 biolink:NamedThing desmoplastic spitz nevus A Spitz nevus associated with fibrous stroma formation. tmpak2llvmy_mondo_relaxed.owl Desmoplastic spitz Nevus SCTID:400022009|NCIT:C82864|UMLS:C1275419 owl:Class MONDO:0022577 biolink:NamedThing Billet bear syndrome A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. tmpak2llvmy_mondo_relaxed.owl billet-bear syndrome|Lower limb partial duplication renal agenesis GARD:0000892 https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome owl:Class HGNC:5163 biolink:NamedThing HPS1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:2001544 biolink:NamedThing sublingual cartilage Pharyngeal arch cartilage that is the median cartilage of the ventral hyoid arch, generally lying between the paired ventral hypohyals. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016509 biolink:NamedThing microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome tmpak2llvmy_mondo_relaxed.owl MPPC syndrome|microcornea posterior megalolenticonus persistent fetal vasculature coloboma UMLS:CN201521|Orphanet:231736|ICD10:Q15.8|GARD:0010938 owl:Class HGNC:11025 biolink:NamedThing SLC3A1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2846 biolink:NamedThing DGCR6 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38975 biolink:NamedThing methylbenzene Any alkylbenzene that is benzene substituted with one or more methyl groups. tmpak2llvmy_mondo_relaxed.owl methylbenzenes owl:Class MONDO:0033809 biolink:NamedThing isolated blepharochalasis tmpak2llvmy_mondo_relaxed.owl Orphanet:519390 owl:Class MONDO:0044138 biolink:NamedThing hyalitis Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. tmpak2llvmy_mondo_relaxed.owl Vitreitis|hyalitis|vitritis|hyaloiditis|Vitritis SCTID:95802009|UMLS:C0235812|NCIT:C50587|EFO:1001907 owl:Class MONDO:0017517 biolink:NamedThing brachydactyly of toes, unilateral tmpak2llvmy_mondo_relaxed.owl short toes, unilateral ICD10:Q72.8|Orphanet:295132 owl:Class MONDO:0011538 biolink:NamedThing frontoocular syndrome tmpak2llvmy_mondo_relaxed.owl frontoocular syndrome OMIM:605321|UMLS:C1854405|MESH:C565340 owl:Class NCBITaxon:51291 biolink:NamedThing Chlamydiales tmpak2llvmy_mondo_relaxed.owl chlamydias PMID:26179278|PMID:16079343|PMID:10319462|GC_ID:11|PMID:25634949|PMID:10826799|PMID:11211265 ncbi_taxonomy owl:Class NCBITaxon:204429 biolink:NamedThing Chlamydiia tmpak2llvmy_mondo_relaxed.owl Chlamydiae PMID:26179278|GC_ID:11 ncbi_taxonomy owl:Class HGNC:11834 biolink:NamedThing TKT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0034723 biolink:NamedThing fin taste bud A taste bud that is located on a fin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012612 biolink:NamedThing intellectual disability, autosomal recessive 12 tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 12|mental retardation, autosomal recessive type 12|mental retardation, autosomal recessive 12|intellectual disability, autosomal recessive type 12|MRT12 OMIM:611090|MESH:C567019|UMLS:C1970200 owl:Class FOODON:03411301 biolink:NamedThing algae An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008267 biolink:NamedThing orofaciodigital syndrome V Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). tmpak2llvmy_mondo_relaxed.owl OFD5|orofaciodigital syndrome type 5|oral-facial-digital syndrome 5|Thurston syndrome|polydactyly, postaxial, with Median cleft of upper lip|orofaciodigital syndrome Thurston type|polydactyly postaxial with median cleft of upper lip|Ofds 5|orofaciodigital syndrome type V|oral-Facial-digital syndrome, type 5|orofaciodigital syndrome 5|polydactyly, postaxial, with median cleft of upper lip|OFD syndrome 5|orofaciodigital syndrome, Thurston type|oral-facial-digital syndrome type 5|orofaciodigital syndrome V|oral facial digital syndrome 5|oral facial digital syndrome type 5 GARD:0004120|MESH:C557819|SCTID:722105002|Orphanet:2919|UMLS:C1868118|OMIM:174300|DOID:0060375|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 owl:Class MONDO:0009520 biolink:NamedThing 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. tmpak2llvmy_mondo_relaxed.owl HMGCLD|HL deficiency|deficiency of hydroxymethylglutaryl-CoA lyase|hydroxymethylglutaryl-CoA lyase deficiency|HMG-Coa lyase deficiency|Hydroxymethylglutaric aciduria|HMG-CoA lyase deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|Hmgcl deficiency|3-hydroxy-3-methylglutaric aciduria|HMG CoA lyase deficiency|3-OH 3-Methyl glutaric aciduria|defect in leucine metabolism GARD:0008387|MESH:C538324|SCTID:410059004|ICD10:E71.1|UMLS:C1533587|NCIT:C84523|Orphanet:20|UMLS:C0268601|OMIM:246450 owl:Class HP:0040214 biolink:NamedThing Abnormal insulin level An abnormal concentration of insulin in the body. tmpak2llvmy_mondo_relaxed.owl UMLS:C4073160 human_phenotype owl:Class UBERON:0034708 biolink:NamedThing cerebellum marginal layer tmpak2llvmy_mondo_relaxed.owl MZCB|marginal zone of cerebellum owl:Class MONDO:0016156 biolink:NamedThing qualitative or quantitative defects of FKRP tmpak2llvmy_mondo_relaxed.owl Orphanet:207119 owl:Class MONDO:0024560 biolink:NamedThing PDA1 tmpak2llvmy_mondo_relaxed.owl patent ductus arteriosus 1|PDA1|PDA OMIM:607411 owl:Class MONDO:0044724 biolink:NamedThing 3-methylglutaconic aciduria type 9 tmpak2llvmy_mondo_relaxed.owl MGCA9|3-Methylglutaconic aciduria, type 9|MGA9|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-METHYLGLUTACONIC aciduria, type IX|3-methylglutaconic acuduria type IX, MGCA9|3-methylglutaconic acuduria type IX DOID:0070002|Orphanet:505216|UMLS:CN510468|OMIM:617698 owl:Class NCBITaxon:29960 biolink:NamedThing Penaeus indicus tmpak2llvmy_mondo_relaxed.owl Fenneropenaeus indicus|Penaeus (Fenneropenaeus) indicus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010996 biolink:NamedThing hereditary hemorrhagic telangiectasia type 3 tmpak2llvmy_mondo_relaxed.owl telangiectasia, hereditary hemorrhagic, type 3|Osler Weber Rendu syndrome type 3|telangiectasia hereditary hemorrhagic type 3|HHT3|ORW3 GARD:0009902|MESH:C537140|OMIM:601101 https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 owl:Class GO:0042537 biolink:NamedThing benzene-containing compound metabolic process The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives. tmpak2llvmy_mondo_relaxed.owl benzene-containing compound metabolism|benzene and derivative metabolic process|benzene and derivative metabolism owl:Class MONDO:0016358 biolink:NamedThing limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. tmpak2llvmy_mondo_relaxed.owl limited cutaneous systemic scleroderma Orphanet:220402|GARD:0001053|SCTID:298285004|ICD10:M34.1 owl:Class CHEBI:50267 biolink:NamedThing protective agent Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. tmpak2llvmy_mondo_relaxed.owl chemoprotective agents|protective agents|chemoprotective agent|chemoprotectant|chemoprotectants owl:Class HGNC:385 biolink:NamedThing AKR1C2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010477 biolink:NamedThing blepharophimosis - intellectual disability syndrome, MKB type The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. tmpak2llvmy_mondo_relaxed.owl blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|BMRS, MKB type|Ohdo syndrome, X-linked|BMRS, Maat-Kievit-Brunner type|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|OHDOX|X-linked Ohdo syndrome OMIM:300895|Orphanet:293707|UMLS:C3698541|SCTID:699297004|ICD9:759.89 owl:Class MONDO:0023599 biolink:NamedThing mesomelic dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). tmpak2llvmy_mondo_relaxed.owl Mesomelic Dysplasia|mesomelic dysplasia|mesomelic dysplasias|Mesomelic dysplasia|Mesomelic dwarf SCTID:205473008|UMLS:C0410536|NCIT:C121156 owl:Class MONDO:0030307 biolink:NamedThing spermatogenic failure 55 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 55|SPGF55 OMIM:619380 owl:Class UBERON:0005011 biolink:NamedThing mucosa of right uterine tube A mucosa that is part of a right uterine tube [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right uterine tube mucous membrane|right oviduct mucosa of organ|right uterine tube mucosa of organ|mucosa of organ of right oviduct|right uterine tube organ mucosa|right fallopian tube mucosa of organ|organ mucosa of right fallopian tube|right fallopian tube mucous membrane|right oviduct mucous membrane|right fallopian tube organ mucosa|mucosa of organ of right fallopian tube|right oviduct mucosa|right fallopian tube mucosa|mucosa of right oviduct|mucosa of right fallopian tube|mucosa of organ of right uterine tube|organ mucosa of right uterine tube|right uterine tube mucosa|organ mucosa of right oviduct|mucous membrane of right oviduct|mucous membrane of right fallopian tube|right oviduct organ mucosa|mucous membrane of right uterine tube owl:Class NCBITaxon:1264872 biolink:NamedThing Basidiobolales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1399768 biolink:NamedThing Basidiobolomycetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012156 biolink:NamedThing myasthenic syndrome, congenital, 1B, fast-channel A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. tmpak2llvmy_mondo_relaxed.owl congenital myasthenic syndrome type 1B|myasthenic syndrome, congenital, 1B, FAST-channel|congenital myasthenic syndrome 1B|CMS1B|congenital myasthenic syndrome 1B, fast-channel|myasthenic syndrome, congenital, 1B, fast-channel UMLS:C4225405|OMIM:608930|UMLS:C1837122|DOID:0110662 owl:Class MONDO:0006884 biolink:NamedThing panophthalmitis Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. tmpak2llvmy_mondo_relaxed.owl SCTID:33382000|UMLS:C0030332|MESH:D010202|DOID:13732|ICD9:360.02|EFO:1001081|MedDRA:10033683 owl:Class MONDO:0027451 biolink:NamedThing autosomal recessive cutis laxa type 2D An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. tmpak2llvmy_mondo_relaxed.owl ARCL2D|cutis laxa, autosomal recessive, type IID|cutis laxa, autosomal recessive, type 2D|autosomal recessive cutis laxa type IID OMIM:617403|DOID:0070129|ICD10:Q82.8 owl:Class MONDO:0006762 biolink:NamedThing freemartinism A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). tmpak2llvmy_mondo_relaxed.owl EFO:1000939|DOID:4671|MESH:D005611|UMLS:C0016697 owl:Class HGNC:11566 biolink:NamedThing TAPBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001567 biolink:NamedThing nephrocalcinosis Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. tmpak2llvmy_mondo_relaxed.owl hypercalcemic nephropathy MESH:D009397|DOID:12679|UMLS:C0027709|ICD9:275.49|NCIT:C84918|GARD:0007177|SCTID:48638002 https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis owl:Class MONDO:0007503 biolink:NamedThing ear without helix tmpak2llvmy_mondo_relaxed.owl ear without helix OMIM:128800 owl:Class MONDO:0010920 biolink:NamedThing microtia Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. tmpak2llvmy_mondo_relaxed.owl congenital microtias|microtia, congenital|microtias, congenital|microtia-anotia|M-A|anotia OMIM:600674|GARD:0000431|MESH:D065817|ICD10:Q17.2|MedDRA:10027555|ICD9:744.23|MESH:C537772|Orphanet:83463|SCTID:35045004 owl:Class MONDO:0006273 biolink:NamedThing low grade fibromyxoid sarcoma with giant collagen rosettes A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes. tmpak2llvmy_mondo_relaxed.owl hyalinizing spindle cell tumor with giant Rosettes UMLS:C1708749|EFO:1000329|NCIT:C45203 owl:Class MONDO:0018495 biolink:NamedThing X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237501|Orphanet:423479|ICD10:E79.8 owl:Class GO:0010256 biolink:NamedThing endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. tmpak2llvmy_mondo_relaxed.owl endomembrane organization|endomembrane system organisation owl:Class MONDO:0003926 biolink:NamedThing neurilemmoma of the pleura A schwannoma that involves the pleura. tmpak2llvmy_mondo_relaxed.owl schwannoma of pleura|pleural neurilemmoma|pleura schwannoma|schwannoma of the pleura|pleural schwannoma|neurilemmoma of pleura UMLS:C1335435|NCIT:C5418|DOID:6564 owl:Class MONDO:0010468 biolink:NamedThing aneurysm, intracranial berry, 5 tmpak2llvmy_mondo_relaxed.owl ANIB5|aneurysm, intracranial BERRY, 5 UMLS:C1835857|MESH:C563670|OMIM:300870 owl:Class CHEBI:132233 biolink:NamedThing 1-phenylpropan-2-amine A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group. tmpak2llvmy_mondo_relaxed.owl 1-phenylpropan-2-amine owl:Class CHEBI:32877 biolink:NamedThing primary amine A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. tmpak2llvmy_mondo_relaxed.owl Primary monoamine|R-NH2|primary amines|Primary amine|RCH2NH2|primaeres Amin owl:Class MONDO:0033005 biolink:NamedThing Galloway-Mowat syndrome 1 tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|GAMOS1|nephrosis-neuronal dysmigration syndrome|nephrosis-microcephaly syndrome|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia, and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|Galloway-Mowat syndrome 1|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly DOID:0060364|UMLS:CN031715|OMIM:251300 owl:Class MONDO:0001989 biolink:NamedThing atrophic glossitis tmpak2llvmy_mondo_relaxed.owl Hunter's glossitis|smooth atrophic tongue|glossitis, Hunter's|atrophy of tongue papillae SCTID:9491003|UMLS:C0155964|ICD9:529.4|ICD10:K14.4|DOID:1453 owl:Class HGNC:12412 biolink:NamedThing TUBB2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017468 biolink:NamedThing congenital shoulder dislocation tmpak2llvmy_mondo_relaxed.owl ICD10:Q68.8|ICD9:755.59|SCTID:23876003|Orphanet:295030 owl:Class PO:0000037 biolink:NamedThing shoot axis apex A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127). tmpak2llvmy_mondo_relaxed.owl ápice del epiblasto (epiblastema) (Spanish, exact)|シュート頂、茎頂 (Japanese, exact) PO_GIT:234 plant_anatomy owl:Class MONDO:0009375 biolink:NamedThing hymen, imperforate tmpak2llvmy_mondo_relaxed.owl hymen, imperforate ICD10:Q52.3|SCTID:65937002|MESH:C562397|OMIM:237100|ICD9:752.42 owl:Class MONDO:0011347 biolink:NamedThing craniosynostosis with ectopia lentis tmpak2llvmy_mondo_relaxed.owl craniosynostosis with ectopia lentis OMIM:603595|UMLS:C1863678|MESH:C566357 owl:Class HP:0008321 biolink:NamedThing Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). tmpak2llvmy_mondo_relaxed.owl Decreased factor x activity|Factor X deficiency UMLS:C0015519|MSH:D005171|UMLS:C4024702|SNOMEDCT_US:76642003 human_phenotype owl:Class HP:0010990 biolink:NamedThing Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023609 The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. peter 2011-02-08T04:31:53Z human_phenotype owl:Class CL:0012001 biolink:NamedThing neuron of the forebrain A CNS neuron of the forebrain. tmpak2llvmy_mondo_relaxed.owl forebrain neuron tberardini cell owl:Class MONDO:0004035 biolink:NamedThing glomangiomatosis A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. tmpak2llvmy_mondo_relaxed.owl DOID:6906|NCIT:C27496|UMLS:C1333824 owl:Class MONDO:0007106 biolink:NamedThing anal sphincter dysplasia tmpak2llvmy_mondo_relaxed.owl anal sphincter dysplasia|ASDP MESH:C538254|OMIM:105563|UMLS:C1862936|GARD:0009822 https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia owl:Class HGNC:25671 biolink:NamedThing RNASEH2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000673 biolink:NamedThing integrative agnosia Agnosia characterized by the inability to integrate perceptual wholes within knowledge. tmpak2llvmy_mondo_relaxed.owl DOID:0060143 owl:Class MONDO:0006805 biolink:NamedThing intermediate coronary syndrome Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. tmpak2llvmy_mondo_relaxed.owl Preinfarction angina|anginal chest pain at rest|worsening angina|unstable angina|angina at rest|impending infarction MedDRA:10022554|DOID:8805|ICD9:411.1|ICD10:I20.0|UMLS:C0002965|EFO:1000985|MESH:D000789 owl:Class MONDO:0019783 biolink:NamedThing neovascular glaucoma Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. tmpak2llvmy_mondo_relaxed.owl secondary angle-closure glaucoma with rubeosis DOID:1687|MESH:D015355|SCTID:232086000|Orphanet:94058|MedDRA:10062891|EFO:1001060|UMLS:C0017609 owl:Class MONDO:0017238 biolink:NamedThing hemoglobinopathy Toms River tmpak2llvmy_mondo_relaxed.owl transient neonatal cyanosis and anemia due to Toms River Hemoglobin Orphanet:280615|ICD10:D58.2 owl:Class MONDO:0002333 biolink:NamedThing splenic abscess An abscess that is located in the spleen. tmpak2llvmy_mondo_relaxed.owl splenic abscess|splenic abscess (disease) splenic abscess (disease) NCIT:C35347|UMLS:C0272412|DOID:2530|ICD9:289.59|ICD10:D73.3|SCTID:82053000|HP:0025059 owl:Class MONDO:0004438 biolink:NamedThing sporadic breast cancer A carcinoma that arises from the breast and is not caused by inherited genetic mutations. tmpak2llvmy_mondo_relaxed.owl sporadic breast cancer|sporadic breast carcinoma UMLS:C1336076|NCIT:C7566|DOID:8029 owl:Class HGNC:3236 biolink:NamedThing EGFR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006642 biolink:NamedThing alcohol withdrawal delirium An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) tmpak2llvmy_mondo_relaxed.owl alcohol withdrawal-induced delirium Tremens|delirium Tremens|delirium, alcohol withdrawal|hallucinosis, alcohol withdrawal|alcohol withdrawal associated autonomic hyperactivity|alcohol withdrawal induced delirium Tremens|alcohol withdrawal hallucinosis|autonomic hyperactivity, alcohol withdrawal associated|delirium Tremens, alcohol withdrawal induced SCTID:8635005|ICD9:291.0|MedDRA:10001610|EFO:1000800|MESH:D000430 owl:Class HP:0100639 biolink:NamedThing Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. tmpak2llvmy_mondo_relaxed.owl Erectile abnormalities|Abnormal erection doelkens 2010-12-29T05:45:28Z human_phenotype owl:Class MONDO:0020383 biolink:NamedThing fundus pulverulentus Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. tmpak2llvmy_mondo_relaxed.owl UMLS:CN207257|Orphanet:99004|ICD10:H35.5 owl:Class MONDO:0030930 biolink:NamedThing neurodevelopmental disorder with or without early-onset generalized epilepsy tmpak2llvmy_mondo_relaxed.owl NEDEGE OMIM:619157 owl:Class MONDO:0007945 biolink:NamedThing mannose 6-phosphate receptor recognition defect, Lebanese type tmpak2llvmy_mondo_relaxed.owl mannose 6-phosphate receptor recognition defect, Lebanese type|phosphodiester glycoside deficiency MESH:C563601|UMLS:C1835134|OMIM:154570 owl:Class MONDO:0017403 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, right dominant form tmpak2llvmy_mondo_relaxed.owl familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form ICD10:I42.8|UMLS:CN203147|Orphanet:293910 owl:Class MONDO:0002953 biolink:NamedThing skin infiltrative basal cell carcinoma A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues. tmpak2llvmy_mondo_relaxed.owl skin infiltrating basal cell carcinoma|infiltrating basal cell carcinoma|infiltrative basal cell carcinoma UMLS:C0334257|DOID:4299|ICDO:8092/3|NCIT:C27539 owl:Class MONDO:0015702 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD45 deficiency tmpak2llvmy_mondo_relaxed.owl CD45 deficiency|T-B+ SCID due to CD45 deficiency DOID:0060014|Orphanet:169157|ICD10:D81.2 owl:Class GO:1901190 biolink:NamedThing regulation of formation of translation initiation ternary complex Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. tmpak2llvmy_mondo_relaxed.owl regulation of translation initiation ternary complex assembly owl:Class MONDO:0002787 biolink:NamedThing adamantinous craniopharyngioma A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl adamantinous Rathke's pouch tumor|adamantinomatous craniopharyngioma|adamantinous craniopharyngioma (morphologic abnormality)|adamantinous neoplasm of Rathke's pouch|craniopharyngioma, adamantinomatous|adamantinous Rathke's pouch neoplasm|adamantinous tumor of Rathke's pouch ICDO:9351/1|DOID:3846|NCIT:C4726|EFO:1000069|UMLS:C0431129 owl:Class NCBITaxon:52282 biolink:NamedThing Sarcoptes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:474019 biolink:NamedThing Sarcoptinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018153 biolink:NamedThing Erdheim-Chester disease Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. tmpak2llvmy_mondo_relaxed.owl lipoid granulomatosis|Erdheim Chester disease|polyostotic sclerosing histiocytosis|lipogranulomatosis|Erdheim-Chester disease|ECD DOID:4329|EFO:1000926|MedDRA:10060801|ICD9:277.89|Orphanet:35687|GARD:0006369|ONCOTREE:ECD|MESH:D031249|NCIT:C53972|UMLS:C0878675|ICD10:D76.3|SCTID:699537002 owl:Class MONDO:0032897 biolink:NamedThing intellectual developmental disorder with hypotonia and behavioral abnormalities tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES|IDDHBA OMIM:618748 owl:Class NCIT:C15493 biolink:NamedThing Estrogen Receptor Negative tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000239 biolink:NamedThing adiaspiromycosis Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). tmpak2llvmy_mondo_relaxed.owl adiaspiromycosis|adiaspirosis|pulmonary adiaspiromycosis|haplosporangiosis ICD9:117.9|DOID:0050072|SCTID:23892008|MEDGEN:537148|UMLS:C0259737 owl:Class MONDO:0013297 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. tmpak2llvmy_mondo_relaxed.owl LGMD1H|muscular dystrophy limb-girdle type 1H|muscular dystrophy, limb-girdle, type 1H|limb-girdle muscular dystrophy type 1H GARD:0012532|OMIM:613530|ICD10:G71.0|Orphanet:238755|DOID:0110303|UMLS:C3150786 owl:Class MONDO:0023016 biolink:NamedThing duplication of leg mirror foot tmpak2llvmy_mondo_relaxed.owl GARD:0001976 https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot owl:Class MONDO:0009349 biolink:NamedThing holoprosencephaly 1 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly 1|isolated arhinencephaly|Hpe, familial|holoprosencephaly type 1|HPE1|Demyer sequence|cyclopia|arhinencephaly|holoprosencephaly, familial Alobar Orphanet:268936|NCIT:C75476|ICD10:Q04.1|OMIM:236100|DOID:0110881 owl:Class NBO:0000073 biolink:NamedThing chewing The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC] tmpak2llvmy_mondo_relaxed.owl chew|gnaw|mastication owl:Class MONDO:0017925 biolink:NamedThing T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. tmpak2llvmy_mondo_relaxed.owl T-cell immunodeficiency due to RHOH deficiency UMLS:CN714013|Orphanet:324294|ICD10:D84.8 owl:Class MONDO:0022823 biolink:NamedThing congenital contractures tmpak2llvmy_mondo_relaxed.owl GARD:0001477 https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures owl:Class HGNC:13013 biolink:NamedThing KAT6A tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6247 biolink:NamedThing Strongyloides tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016475 biolink:NamedThing Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 tmpak2llvmy_mondo_relaxed.owl Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 Orphanet:231117|ICD10:Q87.3|UMLS:CN201470 owl:Class MONDO:0011465 biolink:NamedThing infundibulocystic basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl skin infundibulocystic basal cell carcinoma|basal cell carcinoma with follicular differentiation|basal cell carcinoma, infundibulocystic MESH:C537655|UMLS:C1304297|DOID:4279|GARD:0009788|OMIM:604451|NCIT:C27540 https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic owl:Class HGNC:25781 biolink:NamedThing ARMC5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017492 biolink:NamedThing fibular hemimelia, unilateral tmpak2llvmy_mondo_relaxed.owl fibular longitudinal meromelia, unilateral ICD10:Q72.6|Orphanet:295081 owl:Class MONDO:0010473 biolink:NamedThing X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic type 32|mental retardation, X-linked, syndromic 32|intellectual disability, X-linked, syndromic 32|mental retardation, X-linked, syndromic type 32|MRXS32 OMIM:300886|DOID:0060828|UMLS:C3550913|Orphanet:324410 owl:Class MONDO:0004516 biolink:NamedThing bulbomembranous urethral cancer tmpak2llvmy_mondo_relaxed.owl bulbomembranous urethral malignant neoplasm UMLS:C1511339|DOID:8259|NCIT:C39869 owl:Class HGNC:13508 biolink:NamedThing BPY2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022883 biolink:NamedThing craniofacial and skeletal defects tmpak2llvmy_mondo_relaxed.owl GARD:0001570 https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects owl:Class GO:0051101 biolink:NamedThing regulation of DNA binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014878 biolink:NamedThing patent ductus arteriosus 2 tmpak2llvmy_mondo_relaxed.owl patent ductus arteriosus type 2|patent ductus arteriosus 2; PDA2|patent ductus arteriosus 2|PDA2 UMLS:C4284595|OMIM:617035 owl:Class NCBITaxon:10245 biolink:NamedThing Vaccinia virus tmpak2llvmy_mondo_relaxed.owl vaccinia virus VV GC_ID:1 ncbi_taxonomy owl:Class HGNC:12029 biolink:NamedThing TRAC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032869 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6|MC5DN6 DOID:0111749|OMIM:618683 owl:Class HGNC:4313 biolink:NamedThing GLDC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010356 biolink:NamedThing nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. tmpak2llvmy_mondo_relaxed.owl nephrogenic syndrome of inappropriate antidiuresis|NSIAD SCTID:723440000|MESH:C564491|UMLS:C1845202|ICD10:E22.2|Orphanet:93606|OMIM:300539 owl:Class UBERON:0004940 biolink:NamedThing submucosa of common hepatic duct A submucosa that is part of a common hepatic duct [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl submucosa of hepatic duct|hepatic duct submucosa|common hepatic duct submucosa|common hepatic ductal submucosa owl:Class HP:0001025 biolink:NamedThing Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. tmpak2llvmy_mondo_relaxed.owl Hives MSH:D014581|UMLS:C0042109|SNOMEDCT_US:126485001|SNOMEDCT_US:247472004|SNOMEDCT_US:64305001|MEDDRA:10046735 human_phenotype owl:Class MONDO:0014656 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. tmpak2llvmy_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2|PEOB2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal recessive 2 OMIM:616479|DOID:0111515|UMLS:C4225312 owl:Class HGNC:9848 biolink:NamedThing RANBP2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042886 biolink:NamedThing amide transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1903509 biolink:NamedThing liposaccharide metabolic process The chemical reactions and pathways involving liposaccharide. tmpak2llvmy_mondo_relaxed.owl liposaccharide metabolism owl:Class MONDO:0011105 biolink:NamedThing alacrima, congenital, autosomal recessive tmpak2llvmy_mondo_relaxed.owl alacrima, congenital, autosomal recessive OMIM:601549|UMLS:C4012597 owl:Class MONDO:0012877 biolink:NamedThing major affective disorder 8 tmpak2llvmy_mondo_relaxed.owl MAJOR affective disorder 8|MAFD8|bipolar affective disorder|major affective disorder 8 OMIM:612357|MESH:C567530 owl:Class MONDO:0011282 biolink:NamedThing tumor suppressor gene on chromosome 11 tmpak2llvmy_mondo_relaxed.owl tumor suppressor gene on chromosome 11|Tsg11|tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor UMLS:C1864232|OMIM:603040 owl:Class GO:0046031 biolink:NamedThing ADP metabolic process The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. tmpak2llvmy_mondo_relaxed.owl ADP metabolism owl:Class MONDO:0009119 biolink:NamedThing diverticulosis, small-intestinal tmpak2llvmy_mondo_relaxed.owl diverticulosis, small-intestinal UMLS:C1857228|MESH:C565620|OMIM:223320 owl:Class MONDO:0022965 biolink:NamedThing desmoplastic infantile ganglioglioma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl Desmoplastic infantile ganglioglioma|DIG UMLS:C1321878|NCIT:C4738|ONCOTREE:DIG|GARD:0008648 https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma owl:Class MONDO:0010837 biolink:NamedThing primary hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. tmpak2llvmy_mondo_relaxed.owl primary hyperparathyroidism|primary hyperparathyroidism (disease) primary hyperparathyroidism (disease) MESH:D049950|SCTID:36348003|GARD:0008612|EFO:0008519|ICD10:E21.0|ICD9:252.01|HP:0008200|DOID:11202|NCIT:C48280 Editor note: check relationship to parent and familiar form owl:Class HP:0011390 biolink:NamedThing Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023381 The inner ear contains the cochlea and the semicircular canals. hecht 2012-03-09T04:59:24Z human_phenotype owl:Class MONDO:0013570 biolink:NamedThing combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in AARS2|combined oxidative phosphorylation deficiency 8|AARS2 combined oxidative phosphorylation deficiency|COXPD8|combined oxidative phosphorylation deficiency type 8|cardiomyopathy, hypertrophic mitochondrial, fatal infantile DOID:0111479|OMIM:614096|UMLS:C3279793|UMLS:C4518839|Orphanet:319504|ICD10:I42.2|SCTID:733600007 owl:Class MONDO:0032779 biolink:NamedThing neurodevelopmental disorder with microcephaly and structural brain anomalies tmpak2llvmy_mondo_relaxed.owl NEDMIBA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES OMIM:618492 owl:Class MONDO:0032681 biolink:NamedThing encephalopathy, progressive, early-onset, with episodic rhabdomyolysis tmpak2llvmy_mondo_relaxed.owl ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS|PEERB OMIM:618331 owl:Class MONDO:0015311 biolink:NamedThing autism-facial port-wine stain syndrome This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. tmpak2llvmy_mondo_relaxed.owl autism with port-wine stain Orphanet:137911|GARD:0010303|UMLS:CN199278 https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain owl:Class MONDO:0019551 biolink:NamedThing hereditary motor and sensory neuropathy type 6 tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 6|CMT6|peripheral neuropathy and optic atrophy|hereditary motor and sensory neuropathy type 6 UMLS:C0393807|Orphanet:90120|ICD10:G60.0|DOID:0080068 owl:Class MONDO:0015438 biolink:NamedThing ring chromosome 22 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. tmpak2llvmy_mondo_relaxed.owl chromosome 22 ring|Ring 22|R22|r(22) syndrome|Ring chromosome 22 syndrome|Ring chromosome type 22 SCTID:13555004|ICD10:Q93.2|Orphanet:1446|UMLS:CN036599|MESH:C536795|GARD:0001336 https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 owl:Class MONDO:0022945 biolink:NamedThing deafness peripheral neuropathy arterial disease tmpak2llvmy_mondo_relaxed.owl GARD:0001701 https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease owl:Class MONDO:0003848 biolink:NamedThing ectopic thymus A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution. tmpak2llvmy_mondo_relaxed.owl ectopic thymus DOID:6307|NCIT:C27804|UMLS:C1333375 owl:Class MONDO:0008794 biolink:NamedThing anhidrosis, familial generalized, with abnormal or absent sweat glands tmpak2llvmy_mondo_relaxed.owl anhidrosis, familial generalized, with abnormal or absent sweat glands OMIM:206600|UMLS:C4225670 owl:Class MONDO:0010742 biolink:NamedThing pentalogy of Cantrell Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. tmpak2llvmy_mondo_relaxed.owl Midline defects, X-linked|thoraco-abdominal syndrome|Cantrell Haller Ravitsch syndrome|thoracoabdominal syndrome|Cantrell deformity|pentalogy of Cantrell|Cantrell pentalogy|Cantrell syndrome|Tas|THAS NCIT:C99011|UMLS:C0559483|OMIM:313850|Orphanet:1335|GARD:0007359|SCTID:281587000|ICD10:Q89.7|MESH:D058502|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell owl:Class MONDO:0014815 biolink:NamedThing intellectual disability, autosomal recessive 52 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. tmpak2llvmy_mondo_relaxed.owl LMAN2L autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 52|MRT52|intellectual disability, autosomal recessive type 52|mental retardation, autosomal recessive type 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|mental retardation, autosomal recessive 52 UMLS:C4225168|OMIM:616887 owl:Class MONDO:0002452 biolink:NamedThing prostate leiomyoma A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl leiomyoma of prostate gland|leiomyoma of the prostate|leiomyoma of prostate|prostate gland leiomyoma|prostatic leiomyoma|prostate leiomyoma DOID:2887|UMLS:C1335510|NCIT:C5544 owl:Class MONDO:0011585 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 2 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). tmpak2llvmy_mondo_relaxed.owl HMNJ|autosomal recessive distal spinal muscular atrophy type 2|spinal muscular atrophy, distal, autosomal recessive, 2|neuropathy, distal hereditary motor, Jerash type|dHMNJ|MNDJ|spinal muscular atrophy, Jerash type|hereditary motor neuropathy, Jerash type|distal hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, type 2|distal hereditary motor neuropathy Jerash type|motor neuropathy, distal, Jerash type|spinal muscular atrophy Jerash type|DSMA2|neuronopathy, distal hereditary motor, Jerash type OMIM:605726|Orphanet:139552|ICD10:G12.2|GARD:0010133|MESH:C535715|SCTID:763533003|DOID:0111065 owl:Class MONDO:0004268 biolink:NamedThing subareolar duct papillomatosis tmpak2llvmy_mondo_relaxed.owl subareolar duct papillomatosis DOID:7533 owl:Class MONDO:0010652 biolink:NamedThing X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. tmpak2llvmy_mondo_relaxed.owl Tranebjaerg Svejgaard syndrome|mental retardation X-linked, Tranebjaerg type seizures and psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|X-linked intellectual disability - seizures - psoriasis|mental retardation and psoriasis|X-linked intellectual disability associated with psoriasis|intellectual disability and psoriasis|Tranebjaerg-Svejgaard syndrome|X-linked mental retardation associated with psoriasis OMIM:309480|SCTID:719810000|MESH:C536978|GARD:0005238|Orphanet:3052|ICD10:Q87.8 owl:Class MONDO:0024647 biolink:NamedThing urolithiasis Stone(s) within the urinary tract. tmpak2llvmy_mondo_relaxed.owl calculus|kidney stone|urinary stones|urolithiasis NCIT:C114688|DOID:0080653|SCTID:95566004|ICD10:N21|UMLS:C0451641 owl:Class HGNC:19358 biolink:NamedThing ALG12 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000153 biolink:NamedThing glycosaminoglycan secreting cell A cell that secretes glycosaminoglycans. tmpak2llvmy_mondo_relaxed.owl GAG secreting cell|hyaluronic acid secreting cell cell owl:Class MONDO:0100367 biolink:NamedThing port-wine nevi-mega cisterna magna-hydrocephalus syndrome A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. tmpak2llvmy_mondo_relaxed.owl nova syndrome Orphanet:2703 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021777 biolink:NamedThing acute rheumatic heart disease Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). tmpak2llvmy_mondo_relaxed.owl acute rheumatic carditis|acute rheumatic heart disease|acute Rheumatic Heart Disease|acute rheumatic fever with heart involvement|Active rheumatic fever with heart involvement|active rheumatic fever with heart involvement SCTID:312591002|ICD9:391.9|NCIT:C34985|UMLS:C0035440|ICD9:391.8 owl:Class MONDO:0012423 biolink:NamedThing MORM syndrome MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. tmpak2llvmy_mondo_relaxed.owl mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy and micropenis|intellectual disability, truncal obesity, retinal dystrophy and micropenis|MORMS|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome OMIM:610156|MESH:C536984|GARD:0010121|SCTID:715628009|UMLS:C1857802|Orphanet:75858 https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome owl:Class ENVO:01001206 biolink:NamedThing grassland ecosystem An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics. tmpak2llvmy_mondo_relaxed.owl downs|Grassland|downland|grazing area|down|GRASSLAND|glade|herbaceous area|grassland owl:Class MONDO:0032666 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4|EV4 OMIM:618307 owl:Class MONDO:0001851 biolink:NamedThing primary lacrimal atrophy tmpak2llvmy_mondo_relaxed.owl UMLS:C0155229|SCTID:17093002|ICD9:375.13|DOID:1399 owl:Class MONDO:0017156 biolink:NamedThing pulmonary arterial hypertension associated with chronic hemolytic anemia Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl PAH associated with chronic hemolytic anemia 2022-03-01 Orphanet:275828|EFO:0009195|SCTID:697908003|ICD10:I27.2|UMLS:C3698315|ICD9:416.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0015520 biolink:NamedThing late infantile CACH syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN199659|Orphanet:157716|ICD10:E75.2 owl:Class MONDO:0011607 biolink:NamedThing narcolepsy 2, susceptibility to tmpak2llvmy_mondo_relaxed.owl narcolepsy 2, susceptibility to|NRCLP2 UMLS:C1853901|OMIM:605841 owl:Class MONDO:0016373 biolink:NamedThing isolated facial myokymia tmpak2llvmy_mondo_relaxed.owl ICD10:G51.4|Orphanet:221106 Editor note: todo check MESH owl:Class NCBITaxon:88770 biolink:NamedThing Panarthropoda tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006140 biolink:NamedThing cervical mucinous adenocarcinoma, minimal deviation variant A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands. tmpak2llvmy_mondo_relaxed.owl cervical mucinous adenocarcinoma, minimal deviation type|cervical mucinous adenocarcinoma, minimal deviation variant|cervical adenoma malignum DOID:6627|EFO:1000169|UMLS:C1516423|NCIT:C40206 owl:Class MONDO:0032672 biolink:NamedThing intellectual developmental disorder with cardiac defects and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl IDDCDF|INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES Orphanet:562569|OMIM:618316 owl:Class MONDO:0004402 biolink:NamedThing testicular yolk sac tumor, glandular-alveolar pattern A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. tmpak2llvmy_mondo_relaxed.owl testicular yolk sac tumor, glandular-alveolar pattern|glandular-alveolar pattern testicular yolk sac tumor UMLS:C1515305|NCIT:C39926|DOID:7930 owl:Class HGNC:2334 biolink:NamedThing CR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022200 biolink:NamedThing treatment for disease tmpak2llvmy_mondo_relaxed.owl 2022-02-01 This modifier will be obsoleted in favor of MAO. Reason: out of scope. Term to consider: MAXO:0000002. MAXO:0000002 owl:Class MONDO:0016080 biolink:NamedThing congenital bronchobiliary fistula Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. tmpak2llvmy_mondo_relaxed.owl ICD10:Q32.4|GARD:0001475|Orphanet:2040|SCTID:719452004 https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula owl:Class UBERON:0003555 biolink:NamedThing spinal cord pia mater A pia mater that is part of a spinal cord [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl spinal cord pia mater of neuraxis|pia mater of spinal cord|pia mater of neuraxis of spinal cord owl:Class MONDO:0012099 biolink:NamedThing AICA-ribosiduria AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. tmpak2llvmy_mondo_relaxed.owl AICAR transformylase/IMP cyclohydrolase deficiency|Aica-Ribosuria due to Atic deficiency|ATIC deficiency|5-amino-4-imidazole carboxamide ribosiduria|Atic deficiency ICD10:E79.8|UMLS:C1837530|OMIM:608688|MESH:C563876|Orphanet:250977|SCTID:725289009|UMLS:C4510943 owl:Class MONDO:0054843 biolink:NamedThing ciliary dyskinesia, primary, 38 tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, Primary, 38, with or without situs inversus|CILD38|ciliary dyskinesia, PRIMARY, 38 OMIM:618063|UMLS:CN252651 owl:Class PR:000025796 biolink:NamedThing integrin alpha tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020464 biolink:NamedThing euryblepharon Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. tmpak2llvmy_mondo_relaxed.owl ICD10:Q10.1|UMLS:CN207327|SCTID:400954002|Orphanet:99172 owl:Class HP:0010719 biolink:NamedThing Abnormality of hair texture An abnormality of the texture of the hair. tmpak2llvmy_mondo_relaxed.owl Abnormality of hair volume|Abnormality of hair consistency|Abnormality of hair curl pattern|Abnormality of hair texture UMLS:C4072880|UMLS:C4072881|UMLS:C4073290|UMLS:C4023722 sdoelken 2010-04-20T09:41:53Z HP:0003776|HP:0002295 human_phenotype owl:Class MONDO:0009545 biolink:NamedThing macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance tmpak2llvmy_mondo_relaxed.owl Macroepiphyseal dysplasia, McAlister coe type|McAlister coe Whyte syndrome|macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance OMIM:248010|GARD:0000173|UMLS:C2931597|MESH:C537721 https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance owl:Class MONDO:0012077 biolink:NamedThing amyotrophic lateral sclerosis type 8 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene. tmpak2llvmy_mondo_relaxed.owl VAPB amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 8|amyotrophic lateral sclerosis 8|ALS8|amyotrophic lateral sclerosis caused by mutation in VAPB OMIM:608627|MESH:C563895|GARD:0010499|DOID:0050752 https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8 owl:Class MONDO:0009848 biolink:NamedThing dissecting cellulitis of the scalp Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. tmpak2llvmy_mondo_relaxed.owl dissecting cellulitis of the scalp|perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial GARD:0001883|ICD10:L08.8|MESH:C562486|ICD9:704.8|OMIM:260910|UMLS:C0263506|Orphanet:345|SCTID:77333008|MedDRA:10056961 https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp owl:Class MONDO:0020684 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 1 tmpak2llvmy_mondo_relaxed.owl EDSPD1|Ehlers-Danlos syndrome, periodontitis type|EDS 8|Ehlers-Danlos syndrome, periodontosis type|Ehlers-Danlos syndrome, periodontal type, 1|Ehlers-Danlos syndrome, type 8 OMIM:130080 owl:Class MONDO:0022896 biolink:NamedThing craniosynostosis contractures cleft tmpak2llvmy_mondo_relaxed.owl GARD:0001591 https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft owl:Class MONDO:0025096 biolink:NamedThing malignant catarrh A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. tmpak2llvmy_mondo_relaxed.owl malignant catarrhal fevers|Catarrhs, malignant|fevers, malignant catarrhal|fever, malignant catarrhal|catarrhal fevers, malignant|malignant catarrhal fever|catarrhal fever, malignant|malignant Catarrhs|catarrh, malignant MESH:D008304|SCTID:24043009|UMLS:C0276241 owl:Class HGNC:30546 biolink:NamedThing FDX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008463 biolink:NamedThing split-hand and split-foot with hypodontia tmpak2llvmy_mondo_relaxed.owl split-hand and split-foot with hypodontia UMLS:C1866742|MESH:C566665|OMIM:183500 owl:Class MONDO:0008053 biolink:NamedThing myopia 2, autosomal dominant tmpak2llvmy_mondo_relaxed.owl myopia 2, autosomal dominant|MYP2 UMLS:C1834531|MESH:C563541|OMIM:160700 owl:Class MONDO:0015479 biolink:NamedThing submucosal cleft palate tmpak2llvmy_mondo_relaxed.owl ICD10:Q35.9|Orphanet:155878 owl:Class MONDO:0030270 biolink:NamedThing lymphatic malformation 9 tmpak2llvmy_mondo_relaxed.owl lymphatic malformation 9|LMPHM9 OMIM:619319 owl:Class MONDO:0002954 biolink:NamedThing superficial multifocal basal cell carcinoma A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. tmpak2llvmy_mondo_relaxed.owl superficial basal cell carcinoma|superficial multicentric basal-cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|multifocal superficial basal cell carcinoma|multicentric basal cell carcinoma NCIT:C4108|DOID:4300|ICDO:8091/3|SCTID:403914000|UMLS:C0334256 owl:Class MONDO:0016010 biolink:NamedThing vitamin K-antagonist embryofetopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. tmpak2llvmy_mondo_relaxed.owl fetal warfarin syndrome|vitamin K antagonist embryopathy|embryofetopathy due to oral anticoagulant therapy|fetal Coumadin syndrome|coumarin syndrome|warfarin syndrome|vitamin K antagonist embryofetopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonists embryofetopathy|congenital warfarin syndrome|warfarin embryopathy|vitamin K-antagonist embryopathy|coumarin embryopathy|DiSala syndrome|fetal anticoagulant syndrome|warfarin embryofetopathy|di Sala syndrome SCTID:38323006|NCIT:C98906|ICD9:759.89|MedDRA:10051445|Orphanet:1914|UMLS:C0265374|ICD10:Q86.2|MESH:C536683|GARD:0008580 https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome owl:Class MONDO:0019857 biolink:NamedThing congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. tmpak2llvmy_mondo_relaxed.owl SCTID:717333002|Orphanet:95715|UMLS:C4273914|ICD10:P72.2 owl:Class GO:0002279 biolink:NamedThing mast cell activation involved in immune response The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response. tmpak2llvmy_mondo_relaxed.owl mast cell activation during immune response owl:Class MONDO:0017568 biolink:NamedThing Prata-Liberal-Goncalves syndrome Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. tmpak2llvmy_mondo_relaxed.owl acrodysplasia scoliosis|brachydactyly-scoliosis-carpal fusion syndrome UMLS:CN203304|ICD10:Q87.8|GARD:0000491|Orphanet:2956|UMLS:C2931761 owl:Class GO:0002793 biolink:NamedThing positive regulation of peptide secretion Any process that activates or increases the frequency, rate, or extent of peptide secretion. tmpak2llvmy_mondo_relaxed.owl up-regulation of peptide secretion|upregulation of peptide secretion|up regulation of peptide secretion|stimulation of peptide secretion|activation of peptide secretion owl:Class MONDO:0007257 biolink:NamedThing candidiasis, familial, 1 tmpak2llvmy_mondo_relaxed.owl CANDF1|candidiasis, familial, 1|Cmct|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease MESH:C567779|OMIM:114580|UMLS:C2751429 owl:Class MONDO:0010032 biolink:NamedThing Sjogren-Larsson-like ichthyosis without CNS or eye involvement tmpak2llvmy_mondo_relaxed.owl Sjogren-Larsson-like ichthyosis without CNS or eye involvement|Sjogren-Larsson-like syndrome|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement GARD:0004885|OMIM:270220|UMLS:C1849195|MESH:C536668 owl:Class MONDO:0000240 biolink:NamedThing invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. tmpak2llvmy_mondo_relaxed.owl UMLS:C0238013|DOID:0050073|SCTID:721798004 owl:Class MONDO:0011536 biolink:NamedThing optic atrophy 4 tmpak2llvmy_mondo_relaxed.owl OPA4|optic atrophy 4 MESH:C565343|UMLS:C1854430|OMIM:605293|DOID:0111440 owl:Class HGNC:493 biolink:NamedThing ANK2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2704647 biolink:NamedThing Metakinetoplastina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022804 biolink:NamedThing colobomata unilobar lung heart defect tmpak2llvmy_mondo_relaxed.owl GARD:0001442 https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect owl:Class UBERON:0012070 biolink:NamedThing palatal tooth A tooth that is on the roof of the mouth. tmpak2llvmy_mondo_relaxed.owl palatal teeth owl:Class HGNC:13586 biolink:NamedThing FBXO7 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16133 biolink:NamedThing TBC1D20 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0017650 biolink:NamedThing developing mesenchymal structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016673 biolink:NamedThing localized junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. tmpak2llvmy_mondo_relaxed.owl JEB-nH loc Orphanet:251393|GARD:0012923|UMLS:CN201914|ICD10:Q81.8 https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type owl:Class MONDO:0022639 biolink:NamedThing Cantu sanchez-corona Garcia-Cruz syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001082 https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome owl:Class MONDO:0003019 biolink:NamedThing potassium deficiency disease Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. tmpak2llvmy_mondo_relaxed.owl hypokalemia|potassium deficiency disorder|hypopotassemia UMLS:C1514284|HP:0002900|ICD10:E87.6|ICD9:276.8|DOID:4500|MESH:D007008|SCTID:43339004|NCIT:C34939 Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT owl:Class MONDO:0020436 biolink:NamedThing atrial septal defect, sinus venosus type tmpak2llvmy_mondo_relaxed.owl sinus venosus ASD|atrial septal defect sinus venosus|ASD, sinus venosus type|sinus venosus atrial septal defects GARD:0010696|MESH:C548009|Orphanet:99105|ICD10:Q21.1|SCTID:95268002 owl:Class MONDO:0005936 biolink:NamedThing recurrent pneumonia Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. tmpak2llvmy_mondo_relaxed.owl recurrent pneumonia|recurrent pneumonia (disease) recurrent pneumonia (disease) SCTID:699014000|EFO:0007461|HP:0006532 owl:Class MONDO:0012875 biolink:NamedThing inflammatory bowel disease 21 An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 21|inflammatory bowel disease 21|IBD21 OMIM:612354|DOID:0110906|UMLS:C2676507|MESH:C567338 owl:Class NCBITaxon:5125 biolink:NamedThing Hypocreales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:222543 biolink:NamedThing Hypocreomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:17572334 NCBITaxon:673183 ncbi_taxonomy owl:Class MONDO:0016670 biolink:NamedThing sickle cell-hemoglobin d disease syndrome tmpak2llvmy_mondo_relaxed.owl sickle cell - hemoglobin D disease|HbSD disease Orphanet:251370|UMLS:C0272084|ICD10:D57.2|MedDRA:10056724|GARD:0012458 owl:Class MONDO:0019761 biolink:NamedThing laryngotracheoesophageal cleft type 1 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. tmpak2llvmy_mondo_relaxed.owl LTEC I|LTEC1|laryngo-tracheo-esophageal cleft type 1 ICD10:Q32.1|Orphanet:93938|UMLS:CN206696 owl:Class MONDO:0006865 biolink:NamedThing necrotizing ulcerative gingivitis A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. tmpak2llvmy_mondo_relaxed.owl Vincent's gingivitis|Vincent's angina|acute necrotising ulcerative gingivostomatitis|phagedenic gingivitis|angina - Vincents|Vincent angina|Vincent's disease|Vincent's angina - pharyngitis|acute necrotising ulcerative gingivitis|Fusospirillary gingivitis|Vincent's infection|acute necrotising ulcerative gingivostomatitis [ambiguous]|Fusospirillosis|Vincent's infection, any site|acute necrotising ulcerative gingivitis [ambiguous]|acute necrotizing ulcerative gingivostomatitis|trench mouth|Vincent's stomatitis|acute membranous gingivitis|acute ulceromembranous gingivitis|acute necrotizing ulcerative gingivitis|ANUG|early acute necrotising gingivitis MESH:D005892|SCTID:186963008|GARD:0005736|ICD10:A69.1|EFO:1001058|NCIT:C34637|DOID:13924|ICD9:101|UMLS:C0017575 owl:Class MONDO:0008886 biolink:NamedThing Sabinas brittle hair syndrome tmpak2llvmy_mondo_relaxed.owl Sabinas brittle hair syndrome|brittle hair syndrome, Sabinas type|Sabinas syndrome|brittle hair and mental Deficit OMIM:211390|UMLS:C0796271|GARD:0000313|MESH:C536320|Orphanet:3123 https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome owl:Class MONDO:0032797 biolink:NamedThing myopathy, congenital, with tremor tmpak2llvmy_mondo_relaxed.owl Myogenic Tremor|MYOPATHY, CONGENITAL, WITH TREMOR|MYOTREM OMIM:618524 owl:Class MONDO:0017420 biolink:NamedThing intercalary limb defects tmpak2llvmy_mondo_relaxed.owl intercalary meromelia Orphanet:294927 owl:Class MONDO:0023178 biolink:NamedThing fragile X syndrome type 1 tmpak2llvmy_mondo_relaxed.owl GARD:0002366 https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1 owl:Class HGNC:25568 biolink:NamedThing FANCI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022908 biolink:NamedThing cutis gyratum acanthosis nigricans craniosynostosis tmpak2llvmy_mondo_relaxed.owl GARD:0001635 https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis owl:Class MONDO:0015689 biolink:NamedThing myeloid neoplasm associated with PDGFRA rearrangement Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasm associated with PDGFRA rearrangement SCTID:738527001|UMLS:C4545381|ICD10:D47.1|Orphanet:168947 owl:Class MONDO:0007662 biolink:NamedThing anterior segment dysgenesis 4 Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene. tmpak2llvmy_mondo_relaxed.owl iridogoniodysgenesis caused by mutation in PITX2|ASGD4|iris hypoplasia with early-onset glaucoma, autosomal dominant|IRID2|iridogoniodysgenesis, type 2|iridogoniodysgenesis type 2|PITX2 iridogoniodysgenesis|anterior segment dysgenesis 4|iridogoniodysgenesis syndrome DOID:0080609|GARD:0003026|OMIM:137600|UMLS:C1842031 owl:Class GO:0015068 biolink:NamedThing glycine amidinotransferase activity Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate. tmpak2llvmy_mondo_relaxed.owl L-arginine:glycine amidinotransferase activity|arginine-glycine amidinotransferase activity|arginine-glycine transamidinase activity|glycine transamidinase activity owl:Class GO:0015067 biolink:NamedThing amidinotransferase activity Catalysis of the reversible transfer of an amidino group to an acceptor. tmpak2llvmy_mondo_relaxed.owl transamidinase activity owl:Class MONDO:0003389 biolink:NamedThing epithelial-myoepithelial carcinoma A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. tmpak2llvmy_mondo_relaxed.owl epithelial-myoepithelial carcinoma|EMYOCA UMLS:C0334392|NCIT:C4199|DOID:5309|ONCOTREE:EMYOCA|ICDO:8562/3|GARD:0006364 owl:Class MONDO:0003602 biolink:NamedThing intracranial liposarcoma A malignant adipose tissue neoplasm of the intracranial region. tmpak2llvmy_mondo_relaxed.owl DOID:5714|NCIT:C6973|UMLS:C1334242 owl:Class HP:0001513 biolink:NamedThing Obesity Accumulation of substantial excess body fat. tmpak2llvmy_mondo_relaxed.owl Having too much body fat|Obesity SNOMEDCT_US:414916001|MSH:D009765|SNOMEDCT_US:414915002|UMLS:C0028754 human_phenotype owl:Class MONDO:0032783 biolink:NamedThing aortic valve disease 3 tmpak2llvmy_mondo_relaxed.owl AORTIC VALVE DISEASE 3|AOVD3 OMIM:618496 owl:Class MONDO:0000663 biolink:NamedThing anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. tmpak2llvmy_mondo_relaxed.owl DOID:0060133 owl:Class HP:0000828 biolink:NamedThing Abnormality of the parathyroid gland An abnormality of the parathyroid gland. tmpak2llvmy_mondo_relaxed.owl Parathyroid disease MSH:D010279|UMLS:C4025822|SNOMEDCT_US:73132005|UMLS:C0030517 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. human_phenotype owl:Class MONDO:0020750 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 tmpak2llvmy_mondo_relaxed.owl OMIM:618193 owl:Class MONDO:0016971 biolink:NamedThing limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. tmpak2llvmy_mondo_relaxed.owl Leyden-Mobius muscular dystrophy|limb-girdle muscular dystrophy|limb girdle muscular dystrophy|erb's muscular dystrophy|LGMD|Leyden-Mbius muscular dystrophy NCIT:C84828|Orphanet:263|ICD10:G71.0|UMLS:C0270950|GARD:0006907|SCTID:78468005|UMLS:C0686353|DOID:11724|MESH:D049288 https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy owl:Class MONDO:0004918 biolink:NamedThing central corneal ulcer tmpak2llvmy_mondo_relaxed.owl DOID:9910|ICD9:370.03|SCTID:7426009|UMLS:C0155069|ICD10:H16.01 owl:Class MONDO:0003929 biolink:NamedThing vestibular micropapillomatosis A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. tmpak2llvmy_mondo_relaxed.owl vestibular micropapillomatosis|micropapillomatosis labialis NCIT:C40290|DOID:6569|UMLS:C1519982 owl:Class UBERON:0004263 biolink:NamedThing upper arm skin A zone of skin that is part of a forelimb stylopod [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skin of arm stylopod|arm stylopod skin|skin of upper arm owl:Class MONDO:0045055 biolink:NamedThing glycogen-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. tmpak2llvmy_mondo_relaxed.owl Glycogen-rich carcinoma NCIT:C4153 owl:Class MONDO:0016669 biolink:NamedThing sickle cell-hemoglobin c disease syndrome tmpak2llvmy_mondo_relaxed.owl HbSC disease|sickle cell - hemoglobin C disease ICD10:D57.2|Orphanet:251365|UMLS:C0019034|MedDRA:10057072|GARD:0006584 owl:Class NCBITaxon:784 biolink:NamedThing Orientia tsutsugamushi tmpak2llvmy_mondo_relaxed.owl Theileria tsutsugamushi|Rickettsia tsutsugamushi|Rickettsia orientalis|Rickettsia akamushi GC_ID:11|PMID:8590688|PMID:1906730 ncbi_taxonomy owl:Class NCBITaxon:69474 biolink:NamedThing Orientia tmpak2llvmy_mondo_relaxed.owl PMID:8590688|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004152 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. tmpak2llvmy_mondo_relaxed.owl CLL/SLL with IGVH SHM|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma NCIT:C37201|DOID:7230|UMLS:C1333037 owl:Class NCBITaxon:69034 biolink:NamedThing Rotaliidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class SO:1000036 biolink:NamedThing inversion A continuous nucleotide sequence is inverted in the same position. tmpak2llvmy_mondo_relaxed.owl inversion owl:Class HGNC:286 biolink:NamedThing ADRB2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11936 biolink:NamedThing FASLG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018621 biolink:NamedThing lymphoplasmacytic lymphoma without IgM production tmpak2llvmy_mondo_relaxed.owl lymphoplasmacytic lymphoma without Immunoglobulin M production Orphanet:443159|ICD10:C83.0 owl:Class MONDO:0018877 biolink:NamedThing retinitis punctata albescens tmpak2llvmy_mondo_relaxed.owl UMLS:CN205224|Orphanet:52427|SCTID:715562001|ICD10:H35.5 owl:Class MONDO:0010066 biolink:NamedThing familial isolated congenital asplenia Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. tmpak2llvmy_mondo_relaxed.owl asplenia, familial|splenic hypoplasia|ICAS|asplenia, isolated congenital|hyposplenia, isolated congenital SCTID:726708009|MESH:C563028|ICD10:Q89.0|Orphanet:101351|OMIM:271400 owl:Class MONDO:0006280 biolink:NamedThing lung sclerosing hemangioma A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. tmpak2llvmy_mondo_relaxed.owl Pneumocytoma|sclerosing Pneumocytoma|lung sclerosing angioma|sclerosing angioma of lung|sclerosing hemangioma of lung|sclerosing hemangioma|sclerosing haemangioma|sclerosing hemangioma of the lung|pulmonary sclerosing hemangioma|lung sclerosing hemangioma|sclerosing angioma of the lung NCIT:C5656|DOID:495|EFO:1000337|DOID:5766|SCTID:707365008|UMLS:C1509148|ICD9:228.09|MESH:D047868 Editor note: we beieve the 3 DO classes are equivalent MONDO:0006934 owl:Class MONDO:0020307 biolink:NamedThing benign childhood occipital epilepsy, Panayiotopoulos type Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. tmpak2llvmy_mondo_relaxed.owl Panayiotopoulos syndrome|early-onset benign childhood occipital epilepsy ICD9:345.80|ICD10:G40.0|SCTID:230387008|Orphanet:98815|UMLS:CN207127 owl:Class HGNC:9642 biolink:NamedThing PTPN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003983 biolink:NamedThing synchronous bilateral breast carcinoma Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. tmpak2llvmy_mondo_relaxed.owl DOID:6742|UMLS:C1515107|NCIT:C40370 owl:Class MONDO:0006119 biolink:NamedThing breast mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor. tmpak2llvmy_mondo_relaxed.owl breast MALT lymphoma|breast mucosa-associated lymphoid tissue lymphoma EFO:1000146|NCIT:C35688|UMLS:C1332633 owl:Class CL:0001027 biolink:NamedThing CD7-negative lymphoid progenitor cell CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. tmpak2llvmy_mondo_relaxed.owl CD7-negative lymphoid precursor These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). cell owl:Class UBERON:0006652 biolink:NamedThing muscular layer of vagina tmpak2llvmy_mondo_relaxed.owl vaginal muscularis|muscular coat of vagina|tunica muscularis vaginae owl:Class MONDO:0008105 biolink:NamedThing nose, anomalous shape of tmpak2llvmy_mondo_relaxed.owl nose, anomalous shape of|potato Nose OMIM:164000|MESH:C538354|GARD:0010040 owl:Class MONDO:0017599 biolink:NamedThing splenic diffuse red pulp small B-cell lymphoma Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. tmpak2llvmy_mondo_relaxed.owl splenic diffuse red pulp lymphoma|SDRPL ONCOTREE:SDRPL|ICDO:9591/3|ICD10:C83.0|NCIT:C80309|UMLS:C2699508|SCTID:763884007|Orphanet:300869 owl:Class MONDO:0018445 biolink:NamedThing global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome tmpak2llvmy_mondo_relaxed.owl glow syndrome Orphanet:404476|ICD10:Q87.3|UMLS:CN226190 owl:Class MONDO:0030981 biolink:NamedThing immunodeficiency 79 tmpak2llvmy_mondo_relaxed.owl IMD79|immunodeficiency 79|CD4 Deficiency OMIM:619238 owl:Class MONDO:0022424 biolink:NamedThing alpha-mannosidosis type 1 tmpak2llvmy_mondo_relaxed.owl MESH:C536584|UMLS:C2931251 owl:Class HGNC:11786 biolink:NamedThing THBS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100435 biolink:NamedThing Schwartz-Jampel syndrome type 1 tmpak2llvmy_mondo_relaxed.owl SJA syndrome|Schwartz-Jampel syndrome type 1|Schwartz-Jampel syndrome 1|SJS1|Chondrodystrophic myotonia|Schwartz-Jampel syndrome, type 1 OMIM:255800|DOID:0090005 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:6318 biolink:NamedThing KIF2A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100399 biolink:NamedThing acute myeloid leukemia, t(3;3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(3;3)(q21;q26.2)|AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q26;q21)|AML, t(3;3)(q21.3q26.2) NCIT:C122717 owl:Class FOODON:00002470 biolink:NamedThing food object quality tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024281 biolink:NamedThing juvenile chronic polyarthritis A group of conditions used to describe polyarthritis occurring in children. tmpak2llvmy_mondo_relaxed.owl juvenile chronic polyarthritis NCIT:C26979 owl:Class MONDO:0021759 biolink:NamedThing acquired fructose intolerance Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. tmpak2llvmy_mondo_relaxed.owl fructose malabsorption|intestinal fructose intolerance|acquired fructose intolerance|dietary fructose intolerance GARD:0002399|SCTID:413427002 https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance owl:Class UBERON:0003928 biolink:NamedThing digestive system duct A duct that is part of a digestive system [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl duct of digestive system|duct of gastrointestinal system|gastrointestinal system duct owl:Class NCBITaxon:1913638 biolink:NamedThing Zoopagomycota tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:27738200 ncbi_taxonomy owl:Class UBERON:0010428 biolink:NamedThing flat bone A bone that is shaped as a broad flat plate and composed of two thin layers of compact tissue enclosing between them a variable quantity of cancellous tissue, which is the location of red bone marrow. tmpak2llvmy_mondo_relaxed.owl os planum owl:Class MONDO:0030073 biolink:NamedThing Mitchell syndrome tmpak2llvmy_mondo_relaxed.owl Mitchell syndrome|MITCH OMIM:618960 owl:Class MONDO:0010928 biolink:NamedThing dwarfism, familial, with muscle spasms tmpak2llvmy_mondo_relaxed.owl dwarfism, familial, with muscle spasms|dwarfism familial with muscle spasms|familial dwarfism and painful muscle spasms MESH:C563447|OMIM:600771|GARD:0010610|UMLS:C1833341 https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms owl:Class MONDO:0032758 biolink:NamedThing neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia tmpak2llvmy_mondo_relaxed.owl NDCAMA|NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA OMIM:618451 owl:Class MONDO:8000011 biolink:NamedThing visceral neuropathy, familial, 1, autosomal recessive A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. tmpak2llvmy_mondo_relaxed.owl Argyrophil myenteric plexus deficiency of|visceral neuropathy familial|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus, deficiency of|visceral neuropathy, familial, autosomal recessive|NID A|pseudoobstruction, chronic idiopathic intestinal, neuronal type|intestinal pseudoobstruction due to neuronal disease|neuronal intestinal dysplasia, type a UMLS:C1855733|ICD10:K59.8|GARD:0003969|MESH:C537394|Orphanet:99811|OMIM:243180 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011387 biolink:NamedThing psoriasis 4, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 4, susceptibility to|PSORS4 DOID:0111280|OMIM:603935 owl:Class MONDO:0001754 biolink:NamedThing eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. tmpak2llvmy_mondo_relaxed.owl postpartum eclampsia|eclampsia in puerperium|eclampsia, postpartum ICD10:O15|UMLS:C0013537|UMLS:C0156678|ICD10:O15.9|DOID:13593|MESH:D004461|ICD9:642.64|SCTID:303063000|NCIT:C87167|GARD:0006316 https://rarediseases.info.nih.gov/diseases/6316/eclampsia owl:Class MONDO:0045048 biolink:NamedThing toxemia of pregnancy A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. tmpak2llvmy_mondo_relaxed.owl toxemia of pregnancy NCIT:C34943 owl:Class MONDO:0030266 biolink:NamedThing immunodeficiency 80 with or without congenital cardiomyopathy tmpak2llvmy_mondo_relaxed.owl immunodeficiency 80 with or without congenital cardiomyopathy|MCM10 deficiency|IMD80 OMIM:619313 owl:Class MONDO:0044635 biolink:NamedThing diaph1-related sensorineural hearing loss-thrombocytopenia syndrome tmpak2llvmy_mondo_relaxed.owl diaph1-related sensorineural hearing loss-thrombocytopenia syndrome|DIAPH1-related sensorineural deafness-thrombocytopenia syndrome Orphanet:494444 owl:Class MONDO:0000452 biolink:NamedThing progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. tmpak2llvmy_mondo_relaxed.owl PRMS|progressive-relapsing MS UMLS:C0393666|SCTID:230374002|DOID:0050785 owl:Class MONDO:0044787 biolink:NamedThing nasal cavity and paranasal sinus squamous cell carcinoma A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. tmpak2llvmy_mondo_relaxed.owl nasal cavity and paranasal sinus squamous cell cancer|nasal cavity and paranasal sinus squamous cell carcinoma NCIT:C68611|UMLS:C0280332 Editor note: TODO add uberon term owl:Class MONDO:0008194 biolink:NamedThing Paramolar tubercle of bolk tmpak2llvmy_mondo_relaxed.owl Paramolar tubercle of bolk|bolk cusp SCTID:78305006|OMIM:168200 owl:Class MONDO:0020509 biolink:NamedThing secondary syringomyelia Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. tmpak2llvmy_mondo_relaxed.owl Orphanet:99857|ICD10:G95.0 owl:Class NCBITaxon:1933309 biolink:NamedThing Oropouche orthobunyavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:46725 biolink:NamedThing oxide mineral tmpak2llvmy_mondo_relaxed.owl oxide minerals owl:Class MONDO:0002755 biolink:NamedThing solitary osseous plasmacytoma A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion. tmpak2llvmy_mondo_relaxed.owl isolated osseous plasmacytoma|SPB|isolated plasmacytoma of bone|solitary plasmacytoma of bone SCTID:426336007|ICD9:238.6|UMLS:C0272256|ONCOTREE:SPB|DOID:3722|NCIT:C7812 owl:Class NCBITaxon:34353 biolink:NamedThing Dipodascaceae tmpak2llvmy_mondo_relaxed.owl anamorphic Dipodascaceae GC_ID:1 NCBITaxon:118261 ncbi_taxonomy owl:Class NCBITaxon:4892 biolink:NamedThing Saccharomycetales tmpak2llvmy_mondo_relaxed.owl budding yeasts|Endomycetales GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005048 biolink:NamedThing pancreatic insulin-producing neuroendocrine tumor An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome. tmpak2llvmy_mondo_relaxed.owl insulin-producing tumor of the islet cells|Beta cell tumor of the pancreas|Beta cell tumor of pancreas|beta cell tumor of the pancreas|pancreatic insulin producing neoplasm|pancreatic insulin producing tumor|insulin-producing tumor of islet cells|Beta cell tumor|pancreatic insulin-producing neuroendocrine tumor|pancreatic insulin producing NET|pancreatic insulin-producing tumor|beta cell neoplasm|insulin-producing islet cell tumor|pancreatic Beta cell tumor NCIT:C3140|Orphanet:97279|ICDO:8151/0|ICDO:8151/1 owl:Class MONDO:0006813 biolink:NamedThing intradermal nevus A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction. tmpak2llvmy_mondo_relaxed.owl dermal Nevus MESH:D018330|MedDRA:10058537|UMLS:C0206737|ICDO:8750/0|NCIT:C3804|EFO:1000995|SCTID:302838006 owl:Class GO:1903553 biolink:NamedThing positive regulation of extracellular exosome assembly Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. tmpak2llvmy_mondo_relaxed.owl up-regulation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|upregulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly owl:Class MONDO:0006632 biolink:NamedThing osteoarthritis, hand Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children). tmpak2llvmy_mondo_relaxed.owl EFO:1000789 owl:Class MONDO:0015091 biolink:NamedThing autosomal dominant spastic paraplegia type 9 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|cataracts, motor neuronopathy, short stature and skeletal abnormalities|ALDH18A1 autosomal dominant complex spastic paraplegia|autosomal dominant spastic paraparesis|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|SPG9|bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|spastic paraplegia 9 GARD:0009583|ICD10:G11.4|Orphanet:100990 owl:Class MONDO:0020807 biolink:NamedThing ovarian sertoli-stromal cell tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. tmpak2llvmy_mondo_relaxed.owl Ovarian Sertoli-Stromal Tumor|Ovarian Sertoli-Stromal Cell Tumor NCIT:C39966 owl:Class MONDO:0004624 biolink:NamedThing uvula cancer A malignant neoplasm involving the palatine uvula. tmpak2llvmy_mondo_relaxed.owl malignant uvular tumor|malignant neoplasm of palatine uvula|malignant uvula tumour|malignant palatine uvula neoplasm|malignant tumor of uvula|cancer of palatine uvula|palatine uvula cancer|malignant uvular tumour|malignant uvular neoplasm|malignant uvula tumor|malignant uvula neoplasm DOID:8635|ICD9:145.4|SCTID:363389001|NCIT:C35177|ICD10:C05.2|UMLS:C0153377 owl:Class NCBITaxon:36596 biolink:NamedThing Prunus armeniaca tmpak2llvmy_mondo_relaxed.owl Armeniaca vulgaris var. glabra|Armeniaca vulgaris|apricot|Armeniaca vulgaris var. vulgaris GC_ID:1 NCBITaxon:262400 ncbi_taxonomy owl:Class MONDO:0013108 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl leukemia, B-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, acute lymphoblastic|All1|ALL|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, T-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to UMLS:C2751595|OMIM:613065 owl:Class MONDO:0001928 biolink:NamedThing suppurative cholangitis Cholangitis that is characterized by pyogenic organisms. tmpak2llvmy_mondo_relaxed.owl suppurative cholangitis DOID:14269|NCIT:C35336|ICD10:K83.0|SCTID:69850007|UMLS:C0267924 owl:Class MONDO:0012187 biolink:NamedThing Fanconi anemia complementation group J Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. tmpak2llvmy_mondo_relaxed.owl FANCJ|Fanconi Anemia, complementation group type J|Fanconi anemia complementation group type J|Fanconi anemia complementation group J|Fanconi anemia, complementation group J MESH:C563801|OMIM:609054|UMLS:C1836860|NCIT:C129027|DOID:0111097 owl:Class MONDO:0019406 biolink:NamedThing craniofacial conodysplasia Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.5|Orphanet:85168 owl:Class HGNC:23573 biolink:NamedThing MORC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016301 biolink:NamedThing congenitally corrected transposition of the great arteries Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. tmpak2llvmy_mondo_relaxed.owl transposition of the great arteries, congenitally corrected|levo-transposition of the great vessels|L-transposition of the great arteries|ventriculoarterial and atrioventricular discordance|Double discordance|discordant ventriculoarterial and atrioventricular connections|ventricular inversion|L-transposition of the great vessels|transposition of the great vessels, congenitally corrected|congenitally corrected transposition of the great vessels|levo-transposition of the great arteries ICD10:Q20.5|NCIT:C98902|GARD:0001544|ICD9:745.12|MESH:C535426|SCTID:83799000|UMLS:C3274488|MedDRA:10011120|Orphanet:216694 https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries owl:Class MONDO:0018767 biolink:NamedThing severe primary trimethylaminuria Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene. tmpak2llvmy_mondo_relaxed.owl TMAuria|stale fish syndrome|TMAU|fish malodor syndrome|fish odor syndrome|fish-odor syndrome Orphanet:468726|GARD:0006447|ICD10:E88.8|MESH:C536561|OMIM:602079|HP:0003614|DOID:0080361 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0017636 biolink:NamedThing hemiparkinsonism-hemiatrophy syndrome Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. tmpak2llvmy_mondo_relaxed.owl Hp-HA syndrome ICD10:G20|Orphanet:306669|UMLS:CN203531 owl:Class HGNC:7534 biolink:NamedThing MXI1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013150 biolink:NamedThing parkinsonism-dystonia, infantile Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. tmpak2llvmy_mondo_relaxed.owl PARKINSONISM-dystonia, infantile|parkinsonism-dystonia, infantile|PKDYS|Parkinsonism-dystonia infantile|infantile Parkinsonism-dystonia|dopamine transporter deficiency syndrome|IPD MESH:C567730|OMIMPS:613135|GARD:0010484|SCTID:722763000|NCIT:C129866|UMLS:C2751067|Orphanet:238455 https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia owl:Class GO:2001024 biolink:NamedThing negative regulation of response to drug Any process that stops, prevents or reduces the frequency, rate or extent of response to drug. tmpak2llvmy_mondo_relaxed.owl negative regulation of drug susceptibility/resistance|negative regulation of drug resistance owl:Class MONDO:0003888 biolink:NamedThing childhood testicular mixed embryonal carcinoma and teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. tmpak2llvmy_mondo_relaxed.owl pediatric testicular teratocarcinoma|childhood teratocarcinoma of the testis|childhood testicular mixed embryonal carcinoma and teratoma|childhood testicular teratocarcinoma|childhood teratocarcinoma of testis UMLS:C1333008|NCIT:C6539|DOID:6474 owl:Class MONDO:0015639 biolink:NamedThing benign partial epilepsy with secondarily generalized seizures in infancy Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. tmpak2llvmy_mondo_relaxed.owl Orphanet:166302|ICD10:G40.1|UMLS:CN226718 owl:Class NCBITaxon:209 biolink:NamedThing Helicobacter tmpak2llvmy_mondo_relaxed.owl PMID:17329766|PMID:11156001|PMID:29034857|GC_ID:11|PMID:1704793|PMID:15143020 NCBITaxon:28203 ncbi_taxonomy owl:Class UBERON:0011602 biolink:NamedThing gingiva of lower jaw A gingiva that is part of a lower jaw region. tmpak2llvmy_mondo_relaxed.owl lower jaw gingiva|gum of lower jaw|lower jaw gum|lower gingiva|lower gum|gum of mandible|mandibular gum owl:Class HGNC:438 biolink:NamedThing ALPL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006839 biolink:NamedThing Lutembacher syndrome A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. tmpak2llvmy_mondo_relaxed.owl syndrome, Lutembacher|Lutembachers syndrome|Lutembacher's anomaly|Lutembacher syndrome|syndrome, Lutembacher's|Lutembacher's syndrome SCTID:204319006|UMLS:C0024164|EFO:1001024|MESH:D008185|DOID:1998 owl:Class MONDO:0006979 biolink:NamedThing steatitis A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) tmpak2llvmy_mondo_relaxed.owl DOID:4025|MESH:D013231|EFO:1001191|UMLS:C0038235|SCTID:33882007 owl:Class ENVO:00000017 biolink:NamedThing saline hydrographic feature A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L). tmpak2llvmy_mondo_relaxed.owl owl:Class RO:0002577 biolink:NamedThing system A material entity consisting of multiple components that are causally integrated. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004487 biolink:NamedThing endometrial type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia. tmpak2llvmy_mondo_relaxed.owl cervical adenomyoma, endometrial type DOID:8178|NCIT:C40233|UMLS:C1516406 owl:Class MONDO:0010151 biolink:NamedThing tricarboxylic acid cycle, defect of tmpak2llvmy_mondo_relaxed.owl tricarboxylic acid cycle, defect of UMLS:C1848746|MESH:C564762|OMIM:275370 owl:Class MONDO:0011248 biolink:NamedThing distal monosomy 13q Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. tmpak2llvmy_mondo_relaxed.owl distal 13q deletion|telomeric deletion13q|monosomy 13q32|anal atresia, hypospadias, and penoscrotal inversion|13q32 deletion|distal monosomy type 13q|deletion 13q32 OMIM:602553|ICD10:Q93.5|MESH:C566526|UMLS:C1865208|SCTID:763527007|Orphanet:1590 owl:Class MONDO:0011398 biolink:NamedThing dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. tmpak2llvmy_mondo_relaxed.owl DEB, pruriginosa|epidermolysis bullosa pruriginosa|pruriginous dystrophic epidermolysis bullosa|dystrophic epidermolysis bullosa pruriginosa|DEB-Pr|Deb, pruriginosa Orphanet:89843|SCTID:403810008|ICD10:Q81.2|UMLS:C1275114|ICD9:757.39|MESH:C563192|OMIM:604129 owl:Class MONDO:0019809 biolink:NamedThing congenital aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. tmpak2llvmy_mondo_relaxed.owl Congential aortic valve insufficiency|congenital aortic insufficiency|congenital insufficiency of aortic valve Orphanet:95449|ICD9:746.4|UMLS:C0158617|NCIT:C103936|MedDRA:10010370|SCTID:28656008|ICD10:Q23.1 owl:Class ENVO:01001200 biolink:NamedThing anthropised terrestrial environmental zone A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005919 biolink:NamedThing placental insufficiency Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. tmpak2llvmy_mondo_relaxed.owl insufficiency, placental|uteroplacental vascular insufficiency Orphanet:439167|ICD10:O36.5|DOID:3891|EFO:0007443|SCTID:237292005|UMLS:C0032051|MESH:D010927|ICD9:762.2 owl:Class MONDO:0015092 biolink:NamedThing cleft hard palate tmpak2llvmy_mondo_relaxed.owl Orphanet:101023|ICD10:Q35.1|SCTID:448915004 owl:Class MONDO:0008744 biolink:NamedThing alar cartilages hypoplasia-coloboma-telecanthus syndrome Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. tmpak2llvmy_mondo_relaxed.owl frontonasal dysplasia with alar clefts|coloboma of alar-nasal cartilages with telecanthus|alar-nasal cartilages, coloboma of, with telecanthus MESH:C535967|GARD:0000588|ICD10:Q75.8|UMLS:C1859964|OMIM:203000|Orphanet:2007 owl:Class MONDO:0009184 biolink:NamedThing epidermolysis bullosa with diaphragmatic hernia tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa with diaphragmatic hernia MESH:C565588|OMIM:226735 owl:Class MONDO:0016615 biolink:NamedThing oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies tmpak2llvmy_mondo_relaxed.owl oligoarticular JIA with anti-nuclear antibodies|pauciarticular chronic arthritis with anti-nuclear antibodies ICD10:M08.4|UMLS:CN201823|Orphanet:247839 owl:Class MONDO:0003069 biolink:NamedThing suppurative lymphadenitis A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. tmpak2llvmy_mondo_relaxed.owl suppurative lymphadenopathy DOID:4639|UMLS:C0392051|NCIT:C27135|SCTID:48573006|ICD9:457.8 owl:Class MONDO:0015845 biolink:NamedThing uterine cervical aplasia and agenesis tmpak2llvmy_mondo_relaxed.owl ICD10:Q51.5|Orphanet:180145 owl:Class MONDO:0008653 biolink:NamedThing vesicoureteral reflux 1 tmpak2llvmy_mondo_relaxed.owl VUR1|VUR|vesicoureteral reflux 1 UMLS:CN032731|OMIM:193000 owl:Class MONDO:0022457 biolink:NamedThing ankyloblepharon filiforme imperforate anus tmpak2llvmy_mondo_relaxed.owl GARD:0000697 https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus owl:Class MONDO:0009461 biolink:NamedThing male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). tmpak2llvmy_mondo_relaxed.owl macrocephalic sperm head syndrome|macrozoospermia|infertility associated with Multitailed spermatozoa and excessive DNA|infertility associated with multi-tailed spermatozoa and excessive DNA|SPGF5|spermatogenic failure 5|Male infertility due to macrozoospermia|spermatogenic failure type 5|Male infertility with large-headed, multiflagellar, polyploid spermatozoa GARD:0012385|DOID:0070183|Orphanet:137893|ICD10:N46|OMIM:243060|MESH:C562903|SCTID:236806004|UMLS:C0403812 owl:Class MONDO:0001139 biolink:NamedThing sexual masochism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer. tmpak2llvmy_mondo_relaxed.owl sexual masochism NCIT:C94356|SCTID:51239001|ICD9:302.83|DOID:10849|MESH:D008398|ICD10:F65.51 owl:Class MONDO:0001996 biolink:NamedThing steroid-induced glaucoma - borderline tmpak2llvmy_mondo_relaxed.owl borderline glaucoma steroid responder|steroid responders borderline glaucoma SCTID:302895007|ICD9:365.03|UMLS:C0339572|DOID:14548 owl:Class HGNC:7493 biolink:NamedThing MT-TN tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9725 biolink:NamedThing PYGL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019676 biolink:NamedThing brachydactyly type B A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons. tmpak2llvmy_mondo_relaxed.owl Orphanet:93383|SCTID:389168002|UMLS:C1300267|GARD:0000985|ICD10:Q73.8 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class MONDO:0032665 biolink:NamedThing intellectual developmental disorder, autosomal recessive 68 tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68|MRT68|Mental Retardation, Autosomal Recessive 68 OMIM:618302 owl:Class MONDO:0012841 biolink:NamedThing inflammatory bowel disease 18 An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 18|IBD18|inflammatory bowel disease 18 OMIM:612262|DOID:0110888|UMLS:C2677090|MESH:C567377 owl:Class MONDO:0016995 biolink:NamedThing familial multiple meningioma Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. tmpak2llvmy_mondo_relaxed.owl Orphanet:263662|UMLS:CN202309|ICD10:D32.9 owl:Class HGNC:26147 biolink:NamedThing AGBL5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012235 biolink:NamedThing autosomal recessive spinocerebellar ataxia 7 Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia autosomal recessive 7|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia, autosomal recessive 7|SCAR7|spinocerebellar ataxia, autosomal recessive type 7 OMIM:609270|Orphanet:284324|DOID:0080059|UMLS:C1836474|ICD10:G11.1|MESH:C563753|GARD:0012232 https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 owl:Class MONDO:0008133 biolink:NamedThing optic atrophy 3 tmpak2llvmy_mondo_relaxed.owl autosomal dominant optic atrophy type 3|optic atrophy 3|optic atrophy and cataract, autosomal dominant|OPA3|optic atrophy 3 with cataract|optic atrophy 3, autosomal dominant|OPA3, autosomal dominant|optic atrophy, cataract, and neurologic disorder DOID:0111433|MESH:C537128|Orphanet:67036|GARD:0010203|OMIM:165300|UMLS:C1833809|SCTID:719517009|ICD10:H47.2 https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract owl:Class MONDO:0004181 biolink:NamedThing breast adenomyoepithelial adenosis An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. tmpak2llvmy_mondo_relaxed.owl NCIT:C40391|DOID:7312|UMLS:C1511283 owl:Class MONDO:0010988 biolink:NamedThing aplasia cutis-myopia syndrome Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia GARD:0000756|SCTID:720499004|Orphanet:1117|OMIM:601075|ICD10:Q84.8|MESH:C563394 https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia owl:Class MONDO:0037252 biolink:NamedThing thecoma An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported. tmpak2llvmy_mondo_relaxed.owl thecoma MESH:D013798|NCIT:C3405|ICDO:8600/0 owl:Class MONDO:0007423 biolink:NamedThing deafness, mid-tone neural tmpak2llvmy_mondo_relaxed.owl deafness, mid-tone neural MESH:C565122|OMIM:124700|UMLS:C1852283 owl:Class UBERON:0011956 biolink:NamedThing right hepatic vein A hepatic vein that is part of a right lobe of liver. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004502 biolink:NamedThing parapharyngeal meningioma tmpak2llvmy_mondo_relaxed.owl UMLS:C1335345|DOID:8216|NCIT:C5303 owl:Class CHEBI:76729 biolink:NamedThing EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*). tmpak2llvmy_mondo_relaxed.owl oxidoreductase acting on donor CH-CH group inhibitor|inhibitors of oxidoreductase acting on CH-CH group of donor|inhibitor of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|EC 1.3.* inhibitor|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|inhibitors of oxidoreductase acting on CH-CH group of donors|EC 1.3.* inhibitors|inhibitor of oxidoreductase acting on CH-CH group of donor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors owl:Class CL:2000012 biolink:NamedThing fibroblast of pedal digit skin Any skin fibroblast that is part of a pedal digit skin. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-04T15:16:44Z cell owl:Class FOODON:03400643 biolink:NamedThing Codex Alimentarius classification of food and feed commodities Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food. The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989). The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues. The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0643 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class FOODON:03400352 biolink:NamedThing international agency food product type Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0352 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class MONDO:0030976 biolink:NamedThing oculomotor-abducens synkinesis tmpak2llvmy_mondo_relaxed.owl OCABSN OMIM:619215 owl:Class MONDO:0000263 biolink:NamedThing laryngotracheitis An inflammation of both larynx and trachea. tmpak2llvmy_mondo_relaxed.owl ICD9:464|DOID:0050148|SCTID:55130001|ICD10:J37.1|ICD9:476.1|ICD10:J04.2|UMLS:C0023076|ICD9:464.2|ICD10:J04 owl:Class MONDO:0003732 biolink:NamedThing adult central nervous system mature teratoma A central nervous system mature teratoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl central nervous system mature teratoma of adults|adult central nervous system mature teratoma NCIT:C27400|DOID:6016|UMLS:C1332194 owl:Class MONDO:0023091 biolink:NamedThing esophageal atresia coloboma talipes tmpak2llvmy_mondo_relaxed.owl GARD:0002196 https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes owl:Class UBERON:0006312 biolink:NamedThing ocular refractive media Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006154 biolink:NamedThing colon mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon. tmpak2llvmy_mondo_relaxed.owl colonic MALT lymphoma|colon MALT lymphoma|colonic MALToma|colonic mucosa-associated lymphoid tissue lymphoma|MALT lymphoma of colon|MALToma of the colon|MALT lymphoma of the colon|colon MALToma|MALToma of colon UMLS:C1333096|EFO:1000186|NCIT:C5498 owl:Class MONDO:0045054 biolink:NamedThing cancer-related condition A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). tmpak2llvmy_mondo_relaxed.owl cancer-related problem or condition|problem/condition, cancer-related|cancer-related condition|oncologic complications|cancer related problem/condition|problem/condition, cancer related NCIT:C8278|UMLS:C0280950 owl:Class MONDO:0001074 biolink:NamedThing chronic tic disorder A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. tmpak2llvmy_mondo_relaxed.owl tic disorder, chronic|chronic motor or vocal tic disorder NCIT:C116768|ICD9:307.22|DOID:10600|ICD10:F95.1 owl:Class MONDO:0007720 biolink:NamedThing hernia, double inguinal tmpak2llvmy_mondo_relaxed.owl hernia, double inguinal OMIM:142350|UMLS:C0860251|MESH:C563164 owl:Class MONDO:0006013 biolink:NamedThing visna disease Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie. tmpak2llvmy_mondo_relaxed.owl Visna/maedi virus infectious disease|Visna/maedi virus caused disease or disorder|Visna/maedi virus disease or disorder UMLS:C0080323|EFO:0007542|MESH:D016182 owl:Class GO:0006833 biolink:NamedThing water transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:38496 biolink:NamedThing electron-transport chain inhibitor tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019109 biolink:NamedThing CANOMAD syndrome CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy. tmpak2llvmy_mondo_relaxed.owl chronic sensory ataxic neuropathy with anti-disialosyl antibodies|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome Orphanet:71279|ICD10:G61.8|GARD:0009778|SCTID:715624006|MESH:C537980|UMLS:C2931684 https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome owl:Class MONDO:0007388 biolink:NamedThing congenitally short costocoracoid ligament Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. tmpak2llvmy_mondo_relaxed.owl fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|congenital shortness of the costocoracoid ligament|costocoracoid ligament congenitally short|costocoracoid ligament, congenitally short OMIM:122580|ICD10:Q68.8|MESH:C536448|GARD:0001551|Orphanet:2391|SCTID:725101002 https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short owl:Class MONDO:0045017 biolink:NamedThing cholesterol biosynthetic process disease A disease that has its basis in the disruption of cholesterol biosynthetic process. tmpak2llvmy_mondo_relaxed.owl disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process|cholesterol synthesis disease UMLS:C0342829|SCTID:238036004 owl:Class MONDO:0014325 biolink:NamedThing pachyonychia congenita 4 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. tmpak2llvmy_mondo_relaxed.owl KRT6B pachyonychia congenita|pachyonychia congenita type 4|pachyonychia congenita 4|PC4|pachyonychia congenita caused by mutation in KRT6B UMLS:C3714949|OMIM:615728 owl:Class MONDO:0007824 biolink:NamedThing incisors, lower central, absence of tmpak2llvmy_mondo_relaxed.owl incisors, lower central, absence of OMIM:147330 owl:Class MONDO:0019945 biolink:NamedThing solar urticaria Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation. tmpak2llvmy_mondo_relaxed.owl MedDRA:10041307|Orphanet:97230|SCTID:10347006|ICD9:708.8|ICD10:L56.3|UMLS:C0263610 owl:Class MONDO:0019264 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. tmpak2llvmy_mondo_relaxed.owl Schindler disease type 3|NAGA deficiency type 3 Orphanet:79281|UMLS:C1836545|ICD10:E77.1 owl:Class MONDO:0017112 biolink:NamedThing isolated unilateral hemispheric cerebellar hypoplasia Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. tmpak2llvmy_mondo_relaxed.owl SCTID:766934006|ICD10:Q04.3|Orphanet:269218 owl:Class MONDO:0017231 biolink:NamedThing erythropoietic uroporphyria associated with myeloid malignancy tmpak2llvmy_mondo_relaxed.owl Orphanet:280379|ICD10:E80.2|GARD:0010948 https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy owl:Class MONDO:0020773 biolink:NamedThing cerebrospinal fluid rhinorrhea Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) tmpak2llvmy_mondo_relaxed.owl Cerebrospinal fluid rhinorrhea|Cerebrospinal Fluid Rhinorrheas|Rhinorrhea, Cerebrospinal Fluid|Rhinorrheas, CSF|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Cerebrospinal Rhinorrhea|Rhinorrhea, CSF|CSF Rhinorrhea|Cerebrospinal rhinorrhea|Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Rhinorrheas|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea|CSF rhinorrhoea|Rhinorrheas, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|csf - cerebrospinal rhinorrhea|post Traumatic Cerebrospinal Fluid Rhinorrhea|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Spontaneous Rhinorrhea, Cerebrospinal Fluid|cerebrospinal fluid rhinorrhea|Traumatic Rhinorrhea, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post Traumatic|CSF Rhinorrheas|cerebrospinal rhinorrhea|post-Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Rhinorrhea, Cerebrospinal|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|Cerebrospinal Fluid Rhinorrhea, Traumatic|Spontaneous Cerebrospinal Fluid Rhinorrhea|CSF - Cerebrospinal rhinorrhea|Cerebrospinal fluid rhinorrhoea|Rhinorrheas, Cerebrospinal|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Cerebrospinal Fluid Rhinorrhea, post-Traumatic GTR:AN1353832|MESH:D002559|ICD9:349.81|NCIT:C84627|SCTID:85638002|UMLS:C0007815|GTR:AN1355639|HP:0030998 owl:Class MONDO:0043327 biolink:NamedThing cerebrospinal fluid leak Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). tmpak2llvmy_mondo_relaxed.owl Leakages, cerebrospinal fluid|Drainages, cerebrospinal fluid|cerebrospinal fluid leak, traumatic|cerebrospinal fluid leak, post-traumatic|CSF leak|cerebrospinal fluid drainage, traumatic|cerebrospinal fluid leakage|leakage, cerebrospinal fluid|fluid drainage, cerebrospinal|cerebrospinal fluid leakage, spontaneous|cerebrospinal fluid leakage, post-traumatic|CSF rhinorrhea|spinal cerebrospinal fluid leak, post-traumatic|Leaks, cerebrospinal fluid|cerebrospinal fluid drainage, spontaneous|fluid Drainages, cerebrospinal|cerebrospinal fluid leakage, traumatic|CSF otorrhea|spinal cerebrospinal fluid leak|cerebrospinal fluid Drainages|cerebrospinal fluid leakage, post traumatic|spinal CSF leak|cerebrospinal fluid Leakages|fluid leak, cerebrospinal|fluid Leakages, cerebrospinal|spinal cerebrospinal fluid leak, spontaneous|drainage, cerebrospinal fluid|spinal cerebrospinal fluid leak, traumatic|fluid leakage, cerebrospinal|leak, cerebrospinal fluid|cerebrospinal fluid drainage, post-traumatic|cerebrospinal fluid leak, spontaneous|fluid Leaks, cerebrospinal|cerebrospinal fluid leak|cerebrospinal fluid drainage|cerebrospinal fluid drainage, post traumatic|spinal cerebrospinal fluid leak, post traumatic|cerebrospinal fluid Leaks|cerebrospinal fluid leak, post traumatic|csf - cerebrospinal fluid leak SCTID:230744007|GARD:0010166|MESH:D065634 owl:Class NCBITaxon:160008 biolink:NamedThing Mesocestoides lineatus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0037531 biolink:NamedThing intestinal lymph node tmpak2llvmy_mondo_relaxed.owl visceral lumbar lymph node|intestinal node owl:Class UBERON:0015860 biolink:NamedThing visceral abdominal lymph node tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004794 biolink:NamedThing exposure keratitis tmpak2llvmy_mondo_relaxed.owl lagophthalmic keratitis|exposure keratoconjunctivitis UMLS:C0339295|DOID:9461|ICD10:H16.21|SCTID:14366000|ICD9:370.34 owl:Class MONDO:0017331 biolink:NamedThing Pilotto syndrome Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. tmpak2llvmy_mondo_relaxed.owl cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation|cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability UMLS:C2931484|GARD:0004368|MESH:C537400|Orphanet:2894 https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome owl:Class MONDO:0001914 biolink:NamedThing scleromalacia perforans A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur. tmpak2llvmy_mondo_relaxed.owl UMLS:C0155354|ICD10:H15.05|ICD9:379.04|SCTID:26664005|DOID:14230 owl:Class MONDO:0040699 biolink:NamedThing necrotizing scleritis A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern. tmpak2llvmy_mondo_relaxed.owl ICD9:379.09|SCTID:95797003 owl:Class MONDO:0015841 biolink:NamedThing partial septate uterus Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. tmpak2llvmy_mondo_relaxed.owl uterus subseptus|subtotal septate uterus ICD10:Q51.2|SCTID:5364006|Orphanet:180129 owl:Class MONDO:0008499 biolink:NamedThing short stature-wormian bones-dextrocardia syndrome Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia. tmpak2llvmy_mondo_relaxed.owl short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|Stratton-Parker syndrome|STRATTON-PARKER syndrome|Stratton Parker syndrome SCTID:763631006|OMIM:185120|Orphanet:2863|GARD:0004856|UMLS:C1861448|MESH:C566105|ICD10:Q87.1 owl:Class MONDO:0005742 biolink:NamedThing emphysematous cholecystitis Cholecystitis resulting from infection by gas producing organisms. tmpak2llvmy_mondo_relaxed.owl gaseous pericholecystitis NCIT:C35592|SCTID:95558008|EFO:0007249|DOID:9765|MESH:D041882|UMLS:C0521610 owl:Class HGNC:7494 biolink:NamedThing MT-TP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022432 biolink:NamedThing alves Castelo dos Santos syndrome tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract MESH:C536593 owl:Class MONDO:0007952 biolink:NamedThing maxillofacial dysostosis tmpak2llvmy_mondo_relaxed.owl maxillofacial dysostosis UMLS:C1835088|MESH:C563599|GARD:0006991|OMIM:155000 https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis owl:Class GO:0016408 biolink:NamedThing C-acyltransferase activity Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100023 biolink:NamedThing self-limited familial and non-familial neonatal seizures A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. tmpak2llvmy_mondo_relaxed.owl self-limited familial neonatal-infantile epilepsy 2018-06-22 23:38:16+00:00 Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy. owl:Class HGNC:23056 biolink:NamedThing ALG3 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0010975 biolink:NamedThing Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. tmpak2llvmy_mondo_relaxed.owl Abnormality of B cell count|Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell numbers UMLS:C4021208 peter 2011-02-06T09:38:18Z human_phenotype owl:Class HP:0002846 biolink:NamedThing Abnormal B cell morphology A structural abnormality of B cells. tmpak2llvmy_mondo_relaxed.owl Abnormal B cells|Abnormality of B cells UMLS:C4021748 B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. human_phenotype owl:Class UBERON:0005623 biolink:NamedThing semi-lunar valve the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk tmpak2llvmy_mondo_relaxed.owl semilunar valves|semilunar valve owl:Class MONDO:0014197 biolink:NamedThing combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. tmpak2llvmy_mondo_relaxed.owl combined immunodeficiency due to MALT1 deficiency|immunodeficiency 12|immunodeficiency type 12|IMD12 Orphanet:397964|ICD10:D81.8|OMIM:615468|UMLS:C3809583 owl:Class FOODON:00001792 biolink:NamedThing crustacean food product tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:00001911 biolink:NamedThing goat dairy food product tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9871 biolink:NamedThing RASA1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003398 biolink:NamedThing mesentery of jejunum A mesentery that is part of a jejunum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl jejunal mesentery|mesojejunum|jejunum mesentery owl:Class GO:1901663 biolink:NamedThing quinone biosynthetic process The chemical reactions and pathways resulting in the formation of quinone. tmpak2llvmy_mondo_relaxed.owl quinone biosynthesis|quinone formation|quinone synthesis|quinone cofactor synthesis|quinone cofactor biosynthetic process|quinone cofactor anabolism|quinone anabolism|quinone cofactor biosynthesis|quinone cofactor formation owl:Class MONDO:0001799 biolink:NamedThing localized anterior staphyloma tmpak2llvmy_mondo_relaxed.owl anterior staphyloma, localized DOID:13787|SCTID:21946002|ICD9:379.14|ICD10:H15.82|UMLS:C0155362 owl:Class MONDO:0022645 biolink:NamedThing cardioencephalomyopathy tmpak2llvmy_mondo_relaxed.owl GARD:0010673 https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy owl:Class MONDO:0014948 biolink:NamedThing short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay tmpak2llvmy_mondo_relaxed.owl SRMMD|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM:617164|UMLS:C4310686 owl:Class HGNC:17861 biolink:NamedThing TRAF3IP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008850 biolink:NamedThing Cooper-Jabs syndrome Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. tmpak2llvmy_mondo_relaxed.owl aural atresia, multiple congenital anomalies, and mental retardation|aural atresia-multiple congenital anomalies-intellectual disability syndrome|aural atresia, multiple congenital anomalies, and intellectual disability MESH:C565923|Orphanet:1488|SCTID:720748007|ICD10:Q87.8|OMIM:209770 owl:Class MONDO:0016646 biolink:NamedThing autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. tmpak2llvmy_mondo_relaxed.owl ICD10:H47.2|Orphanet:250932|UMLS:CN201872 owl:Class MONDO:0008231 biolink:NamedThing Peyronie disease A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. tmpak2llvmy_mondo_relaxed.owl Induratio penis plastica|Peyronie's disease|Peyronie disease|Peyronie's fibromatosis OMIM:171000|ICD10:N48.6|ICD9:607.85|DOID:8616|UMLS:C0030848 owl:Class MONDO:0015492 biolink:NamedThing Anti-neutrophil cytoplasmic antibody-associated vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpak2llvmy_mondo_relaxed.owl ANCA-associated vasculitis|AAV|antineutrophil cytoplasmic antibody-associated vasculitis Orphanet:156152|GARD:0013011|UMLS:C2717865|MESH:D056648 owl:Class IAO:0000178 biolink:NamedThing material information bearer A material entity in which a concretization of an information content entity inheres. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032657 biolink:NamedThing developmental and epileptic encephalopathy, 69 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 69|DEE69|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69|EIEE69 OMIM:618285 owl:Class MONDO:0044083 biolink:NamedThing alternariosis Opportunistic fungal infection by a member of Alternaria genus. tmpak2llvmy_mondo_relaxed.owl Alternariosis, cutaneous|cutaneous alternariosis|subcutaneous Alternarioses|Alternariosis, dermal|Alternarioses, subcutaneous|Alternarioses|Alternariosis, subcutaneous|subcutaneous Alternariosis|cutaneous Alternarioses|dermal Alternariosis|cutaneous Alternariosis|Alternarioses, dermal|dermal Alternarioses|Alternarioses, cutaneous SCTID:238436005|EFO:1001893|MESH:D060487 owl:Class MONDO:0019444 biolink:NamedThing Trichinellosis A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. tmpak2llvmy_mondo_relaxed.owl Human trichinellosis|trichinosis|trichiniasis|infection with Trichinella ICD10:B75|MedDRA:10044608|Orphanet:863|SCTID:709018004|MESH:D014235|GARD:0005250 owl:Class MONDO:0024521 biolink:NamedThing aortic aneurysm, familial abdominal, 1 tmpak2llvmy_mondo_relaxed.owl AAA1|aortic aneurysm, familial abdominal, 1|aneurysm, abdominal aortic|abdominal aortic aneurysm OMIM:100070 owl:Class MONDO:0011681 biolink:NamedThing episodic ataxia type 4 Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. tmpak2llvmy_mondo_relaxed.owl periodic vestibulocerebellar ataxia|episodic ataxia, type 4|EA4|PATX|ataxia, periodic vestibulocerebellar DOID:0050992|Orphanet:79136|ICD10:G11.8|SCTID:718754008|MESH:C564698|OMIM:606552|UMLS:C1847843 owl:Class MONDO:0018703 biolink:NamedThing isolated splenogonadal fusion tmpak2llvmy_mondo_relaxed.owl SGF Orphanet:457083|ICD10:Q89.0|UMLS:CN242095 owl:Class MONDO:0003925 biolink:NamedThing ethmoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpak2llvmy_mondo_relaxed.owl ethmoid sinus inverted papilloma|inverted papilloma of ethmoid sinus|inverted papilloma of the ethmoid sinus DOID:6562|UMLS:C1333474|NCIT:C6843 owl:Class NCBITaxon:133423 biolink:NamedThing Batillus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023530 biolink:NamedThing kallikrein hypertension tmpak2llvmy_mondo_relaxed.owl kallikrein attenuated hypertension MESH:C537707|HGNC:6357|GARD:0006811|UMLS:C1171349 https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension owl:Class MONDO:0006809 biolink:NamedThing intracranial embolism Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. tmpak2llvmy_mondo_relaxed.owl cerebral embolism with cerebral infarction|cerebral embolism EFO:1000991|ICD9:434.10|ICD10:I66|SCTID:75543006|DOID:4372|MESH:D020766|ICD9:434.1 owl:Class MONDO:0007706 biolink:NamedThing cavernous hemangiomas of face-supraumbilical midline raphe syndrome tmpak2llvmy_mondo_relaxed.owl raphe, supraumbilical Midline, with cavernous Facial hemangiomas|sternal nonunion with supraumbilical raphe|hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|supraumbilical midabdominal raphe and facial cavernous hemangiomas|hemangiomas cavernous of face supraumbilical midline raphe OMIM:140850|MESH:C538144|Orphanet:2124|ICD10:D18.0|SCTID:234140000|GARD:0008524|UMLS:C0472694 owl:Class MONDO:0033310 biolink:NamedThing Joubert syndrome 31 tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 31|JBTS31 DOID:0080277|OMIM:617761 owl:Class HGNC:9706 biolink:NamedThing NECTIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023043 biolink:NamedThing ectodermal dysplasia alopecia preaxial polydactyly tmpak2llvmy_mondo_relaxed.owl absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance GARD:0002040|MESH:C538016|UMLS:C2931691 https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly owl:Class MONDO:0024642 biolink:NamedThing gastric neuroendocrine tumor G2 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. tmpak2llvmy_mondo_relaxed.owl gastric NET G2|gastric neuroendocrine tumor G2 NCIT:C95880|UMLS:C3272407 owl:Class MONDO:0030302 biolink:NamedThing immunodeficiency 81 tmpak2llvmy_mondo_relaxed.owl IMD81|immunodeficiency 81 OMIM:619374 owl:Class HGNC:12805 biolink:NamedThing XDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025417 biolink:NamedThing fowlpox A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. tmpak2llvmy_mondo_relaxed.owl fowl pox|pox, Bird|fowl diphtheria|Birdpox|Bird pox|epithelioma contagiosum|Variola avium|pox, fowl|fowl Diphtherias|diphtheria, fowl|Diphtherias, fowl MESH:D005586 owl:Class MONDO:0022405 biolink:NamedThing retinal ciliopathy due to mutation in nephronophthisis gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156180 owl:Class HGNC:29634 biolink:NamedThing MEGF10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018370 biolink:NamedThing KLHL9-related early-onset distal myopathy KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. tmpak2llvmy_mondo_relaxed.owl SCTID:763776004|ICD10:G71.0|Orphanet:399081 owl:Class MONDO:0017810 biolink:NamedThing variant ABeta2M amyloidosis A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. tmpak2llvmy_mondo_relaxed.owl autosomal dominant beta2-microglobulinic amyloidosis ICD10:E85.1|Orphanet:314652|SCTID:722292000|UMLS:C4302669|UMLS:CN203779 owl:Class NCBITaxon:121739 biolink:NamedThing Lacazia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:8124 biolink:NamedThing OGDH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022575 biolink:NamedThing biliary hypoplasia A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. tmpak2llvmy_mondo_relaxed.owl GARD:0008383 Editor note: consider making this a finding https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia owl:Class CHEBI:36338 biolink:NamedThing lepton Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). tmpak2llvmy_mondo_relaxed.owl leptons owl:Class MONDO:0032649 biolink:NamedThing hypotrichosis 14 tmpak2llvmy_mondo_relaxed.owl HYPT14|HYPOTRICHOSIS 14 OMIM:618275|DOID:0080582 owl:Class MONDO:0002984 biolink:NamedThing reticulohistiocytic granuloma A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 tmpak2llvmy_mondo_relaxed.owl solitary histiocytoma|solitary reticulohistiocytoma|Reticulohistiocytoma|solitary reticulohistiocytosis|solitary Reticulohistiocytoma|reticulohistiocytic granuloma (morphologic abnormality) NCIT:C3356|DOID:4394|SCTID:404162004|GARD:0012967|UMLS:C0035290|ICD9:277.89 owl:Class MONDO:0014782 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2X Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, type 2X|LGMD2X|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES|muscular dystrophy, limb-girdle, type 2x|BVES autosomal recessive limb-girdle muscular dystrophy DOID:0110290|Orphanet:476084|UMLS:C4225199|OMIM:616812 owl:Class MONDO:0014141 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 tmpak2llvmy_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|congenital muscular dystrophy-GMPPB related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|MDDGB14|muscular dystrophy, congenital, GMPPB-related OMIM:615351|UMLS:C3809221 owl:Class MONDO:0019981 biolink:NamedThing unilateral multicystic dysplastic kidney Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. tmpak2llvmy_mondo_relaxed.owl unilateral multicystic renal dysplasia|unilateral MCDK Orphanet:97363|ICD10:Q61.4 owl:Class MONDO:0003964 biolink:NamedThing myositis ossificans A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. tmpak2llvmy_mondo_relaxed.owl ossification - muscle|myositis ossificans progressiva|progressive myositis ossificans|Myisitis ossificans|FOP|progressive ossifying myositis|fibrodysplasia ossificans progressiva NCIT:C3253|DOID:668|MESH:D009221|UMLS:C0027122 owl:Class UBERON:0001483 biolink:NamedThing skin of shoulder A zone of skin that is part of a shoulder region. tmpak2llvmy_mondo_relaxed.owl zone of skin of shoulder|shoulder zone of skin|shoulder skin owl:Class MONDO:0019141 biolink:NamedThing porokeratosis of Mibelli Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. tmpak2llvmy_mondo_relaxed.owl GARD:0004438|Orphanet:735|ICD9:757.39|UMLS:C0949506|ICD10:Q82.8|SCTID:80432009 owl:Class MONDO:0021659 biolink:NamedThing combined carcinoid and adenocarcinoma A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells. tmpak2llvmy_mondo_relaxed.owl combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|combined carcinoid tumor and adenocarcinoma|composite carcinoid neoplasm|mixed carcinoid neoplasm|adenocarcinoid tumor|composite carcinoid|composite carcinoid tumor|mixed carcinoid tumor|adenocarcinoid neoplasm UMLS:C0334302|MESH:C538230|ICDO:8244/3|NCIT:C4139|ICDO:8245/3|GARD:0005741 owl:Class NCBITaxon:222545 biolink:NamedThing Xylariomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147550 biolink:NamedThing Sordariomycetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030312 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 29 tmpak2llvmy_mondo_relaxed.owl Barakat-Van Ham-Kaya syndrome|spinocerebellar ataxia, autosomal recessive 29|neurodevelopmental disorder with hypotonia and cerebellar ataxia|SCAR29 OMIM:619389 owl:Class CHEBI:33408 biolink:NamedThing pnictogen oxoacid tmpak2llvmy_mondo_relaxed.owl pnictogen oxoacids owl:Class NCBITaxon:201174 biolink:NamedThing Actinobacteria tmpak2llvmy_mondo_relaxed.owl actinobacteria|Actinobacteraeota|Actinobacteriota PMID:11837318|PMID:29458499|PMID:16280504|PMID:26654112|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007153 biolink:NamedThing arteries, anomalies of tmpak2llvmy_mondo_relaxed.owl arteries, anomalies of OMIM:108000 owl:Class MONDO:0012566 biolink:NamedThing autism, susceptibility to, 11 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 11|AUTS11 OMIM:610836 owl:Class MONDO:0022109 biolink:NamedThing catatrichy tmpak2llvmy_mondo_relaxed.owl forelock MESH:C535346|UMLS:C1861799|GARD:0010080 https://rarediseases.info.nih.gov/diseases/10080/catatrichy owl:Class MONDO:0006149 biolink:NamedThing clear cell papillary cystadenoma A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion. tmpak2llvmy_mondo_relaxed.owl clear cell papillary cystadenoma ICDO:8443/0|EFO:1000181|UMLS:C1880102|NCIT:C65203 owl:Class MONDO:0017105 biolink:NamedThing glioependymal/ependymal cyst Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). tmpak2llvmy_mondo_relaxed.owl Orphanet:269197 owl:Class MONDO:0009280 biolink:NamedThing monosodium glutamate sensitivity tmpak2llvmy_mondo_relaxed.owl monosodium glutamate sensitivity|Chinese restaurant syndrome SCTID:56344009|ICD9:989.89|UMLS:C0008127|OMIM:231630|MESH:C562377 owl:Class MONDO:0007715 biolink:NamedThing hemolytic poikilocytic anemia due to reduced ankyrin binding sites tmpak2llvmy_mondo_relaxed.owl hemolytic poikilocytic anemia due to reduced ankyrin binding sites MESH:C564197|OMIM:141700|UMLS:C1841622 owl:Class MONDO:0016754 biolink:NamedThing vestibular schwannoma Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness. tmpak2llvmy_mondo_relaxed.owl vestibular schwannoma (disease)|acoustic neurilemoma|acoustic neurinoma|acoustic neuroma|vestibular schwannoma vestibular schwannoma (disease) Orphanet:252175|MedDRA:10000523|ICD10:D33.3|HP:0009588 owl:Class MONDO:0013213 biolink:NamedThing hearing loss, cisplatin-induced, susceptibility to tmpak2llvmy_mondo_relaxed.owl CIHL|hearing loss, cisplatin-induced, susceptibility to OMIM:613290 owl:Class NCBITaxon:4893 biolink:NamedThing Saccharomycetaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:221665|NCBITaxon:44280 ncbi_taxonomy owl:Class MONDO:0017222 biolink:NamedThing Pelizaeus-Merzbacher disease, classic form The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. tmpak2llvmy_mondo_relaxed.owl classic PMD Orphanet:280219|SCTID:87607002|ICD10:E75.2 owl:Class MONDO:0020703 biolink:NamedThing erythroid neoplasm tmpak2llvmy_mondo_relaxed.owl erythroid neoplasm|erythroid tumor NCIT:C7064 owl:Class NBO:0000010 biolink:NamedThing reproductive behavior Behavior directly related to the production of offspring [NBO:AC] tmpak2llvmy_mondo_relaxed.owl reproductive behaviour|reproduction owl:Class MONDO:0003836 biolink:NamedThing malignant thyroid stimulating hormone producing neoplasm of pituitary gland A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. tmpak2llvmy_mondo_relaxed.owl malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant thyrotropinoma of pituitary gland|malignant TSH secreting pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant TSH secreting pituitary gland neoplasm|malignant TSH producing tumor of the pituitary|malignant TSH secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant TSH producing tumor of pituitary|malignant TSH producing neoplasm of the pituitary|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant thyrotropinoma of pituitary|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant thyroid stimulating hormone producing tumor|malignant TSH secreting tumor of pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing pituitary tumor|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting tumor of the pituitary|malignant pituitary gland thyrotropinoma|malignant TSH producing pituitary gland tumor|malignant TSH secreting tumor of the pituitary gland|malignant TSH producing tumor of pituitary gland|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant pituitary thyrotropinoma|thyrotropin producing pituitary gland carcinoma|malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyrotropinoma|malignant thyroid stimulating hormone producing pituitary tumor|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant TSH secreting neoplasm of the pituitary|malignant TSH producing neoplasm of pituitary gland|malignant TSH producing neoplasm of the pituitary gland|malignant thyrotropinoma of the pituitary|malignant TSH producing pituitary gland neoplasm|malignant TSH producing pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant thyroid stimulating hormone producing tumor of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant TSH secreting tumor of pituitary|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant thyroid stimulating hormone producing tumor of pituitary|malignant TSH secreting tumor of the pituitary|malignant TSH secreting neoplasm of pituitary gland|malignant TSH producing tumor of the pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary|TSH-producing pituitary gland carcinoma|malignant thyroid stimulating hormone secreting pituitary tumor|malignant thyrotropinoma of the pituitary gland|malignant TSH secreting pituitary tumor|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone producing tumor of the pituitary gland|TSH producing pituitary gland carcinoma DOID:6274|NCIT:C5965|UMLS:C1334627 owl:Class UBERON:0001952 biolink:NamedThing epithelium of oropharynx An epithelium that is part of a oropharynx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl oropharynx epithelium|oropharynx epithelial tissue|oropharyngeal epithelium owl:Class MONDO:0032794 biolink:NamedThing leber congenital amaurosis 19 tmpak2llvmy_mondo_relaxed.owl LCA19|LEBER CONGENITAL AMAUROSIS 19 OMIM:618513 owl:Class MONDO:0013655 biolink:NamedThing intellectual disability, autosomal dominant 8 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene. tmpak2llvmy_mondo_relaxed.owl MRD8|mental retardation, autosomal dominant 8|NDHMSD|intellectual disability, autosomal dominant type 8|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|autosomal dominant intellectual disability 8|GRIN1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 8|intellectual disability, autosomal dominant 8|mental retardation, autosomal dominant type 8|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|autosomal dominant non-syndromic intellectual disability 8|mental retardation, autosomal dominant 8, formerly|intellectual disability, autosomal dominant 8, formerly OMIM:614254|DOID:0070038|UMLS:C3280282 owl:Class CHEBI:60911 biolink:NamedThing racemate A racemate is an equimolar mixture of a pair of enantiomers. tmpak2llvmy_mondo_relaxed.owl racemates|racemic mixture|melange racemique owl:Class MONDO:0016026 biolink:NamedThing infant epilepsy with migrant focal crisis An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown. tmpak2llvmy_mondo_relaxed.owl GARD:0002995|UMLS:C4510564|ICD10:G40.4|SCTID:724274009|Orphanet:1943 https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis owl:Class MONDO:0023483 biolink:NamedThing infectious myositis An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. tmpak2llvmy_mondo_relaxed.owl infective myositis|infectious myositis ICD9:728.0|NCIT:C26984|SCTID:29689003|GARD:0009131 https://rarediseases.info.nih.gov/diseases/9131/infective-myositis owl:Class MONDO:0010747 biolink:NamedThing X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. tmpak2llvmy_mondo_relaxed.owl X-linked torsion dystonia-Parkinsonism syndrome|Lubag|dystonia-Parkinsonism, X-linked|DYT3|X-linked dystonia-Parkinsonism syndrome|XDP|X-linked dystonia-parkinsonism/Lubag|torsion dystonia-Parkinsonism, Filipino type|dystonia 3, torsion, X-linked|X-linked dystonia Parkinsonism|DYT-TAF1|Lubag syndrome SCTID:698279003|OMIM:314250|NCIT:C126330|Orphanet:53351|DOID:0090057|ICD10:G24.1|UMLS:C1839130|GARD:0010533|MESH:C564048 owl:Class MONDO:0006820 biolink:NamedThing kidney cortex necrosis Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. tmpak2llvmy_mondo_relaxed.owl renal cortical necrosis MESH:D007673|DOID:2973|SCTID:444691002|MedDRA:10023414|ICD10:N17.1|EFO:1001003|ICD9:583.6 owl:Class NCBITaxon:42231 biolink:NamedThing Mansonella perstans tmpak2llvmy_mondo_relaxed.owl Dipetalonema perstans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007630 biolink:NamedThing North Carolina macular dystrophy North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. tmpak2llvmy_mondo_relaxed.owl central areolar pigment epithelial dystrophy|macular dystrophy retinal 1 North Carolina type|North Carolina macular dystrophy|progressive foveal dystrophy|NCMD|central retinal pigment epithelial dystrophy|caped|North Carolina macular dystrophy, retinal 1|CAPE dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type|foveal dystrophy, progressive, formerly|retinal pigment epithelial dystrophy, central|retinal pigment epithelial dystrophy central|MCDR1|foveal dystrophy progressive|foveal dystrophy, progressive UMLS:C0730294|GARD:0009179|Orphanet:75327|OMIM:136550|SCTID:312925009|ICD10:H35.5|MESH:C537835 OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy owl:Class MONDO:0018418 biolink:NamedThing autosomal recessive spastic paraplegia type 66 tmpak2llvmy_mondo_relaxed.owl SPG66 UMLS:CN226125|ICD10:G11.4|Orphanet:401815 owl:Class MONDO:0032803 biolink:NamedThing immunodeficiency 64 tmpak2llvmy_mondo_relaxed.owl IMD64|IMMUNODEFICIENCY 64 OMIM:618534 owl:Class HGNC:11605 biolink:NamedThing TBX6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002988 biolink:NamedThing cervix melanoma An aggressive malignant tumor of melanocytic origin that arises from the cervix. tmpak2llvmy_mondo_relaxed.owl primary malignant melanoma of the cervix uteri|melanoma of the cervix|cervical melanoma|primary malignant melanoma of the uterine cervix NCIT:C40239|DOID:4413|GARD:0009664|UMLS:C0877611 owl:Class MONDO:0006605 biolink:NamedThing scalp dermatosis Dermotosis of scalp tmpak2llvmy_mondo_relaxed.owl dermatosis of scalp MESH:D012536|EFO:1000761|DOID:3136|UMLS:C0036271|SCTID:402694007 owl:Class MONDO:0009859 biolink:NamedThing PHAVER syndrome Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. tmpak2llvmy_mondo_relaxed.owl Powell-Chandra-Saal syndrome|pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects|PHAVER syndrome OMIM:261575|GARD:0004465|SCTID:723453002|MESH:C538357|Orphanet:2876|ICD10:Q87.8|UMLS:C1849928 https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome owl:Class MONDO:0018425 biolink:NamedThing Huntington disease-like syndrome due to C9ORF72 expansions tmpak2llvmy_mondo_relaxed.owl C9ORF72-related Huntington disease phenocopy|C9ORF72-related Huntington disease-like syndrome|Huntington disease phenocopy due to C9ORF72 expansions UMLS:CN226138|ICD10:G10|Orphanet:401901 owl:Class MONDO:0001998 biolink:NamedThing Foster-Kennedy syndrome Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. tmpak2llvmy_mondo_relaxed.owl DOID:14555|ICD10:H47.14|SCTID:87764000|ICD9:377.04|UMLS:C0152112|EFO:1001330 owl:Class MONDO:0002003 biolink:NamedThing papilledema Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. tmpak2llvmy_mondo_relaxed.owl papilloedema|edema of the optic disc|Choked disk ICD10:H46.0|SCTID:423341008|NCIT:C3307|ICD10:H47.10|GARD:0007318|ICD9:377.31|DOID:146|ICD10:H47.1|ICD9:377.0|ICD9:377.00 https://rarediseases.info.nih.gov/diseases/7318/papilledema owl:Class MONDO:0011254 biolink:NamedThing brachydactyly, intraventricular septal defect, and deafness tmpak2llvmy_mondo_relaxed.owl brachydactyly, intraventricular septal defect, and deafness OMIM:602561|UMLS:C1865182|MESH:C566521 owl:Class MONDO:0004400 biolink:NamedThing malignant type A thymoma A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. tmpak2llvmy_mondo_relaxed.owl thymoma, medullary, malignant|malignant type A thymoma DOID:7927|UMLS:C0279707|ICDO:8581/3|NCIT:C7999 owl:Class MONDO:0002588 biolink:NamedThing thymoma type A A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years. tmpak2llvmy_mondo_relaxed.owl primary thymic epithelial tumor type A|thymoma, medullary|medullary thymoma|thymoma type A|spindle cell thymoma|primary thymic epithelial neoplasm type A ICD10:C37|NCIT:C6454|DOID:3279|Orphanet:263310|ICD10:D15.0|ICDO:8581/1|UMLS:C1266091 owl:Class GO:0047291 biolink:NamedThing lactosylceramide alpha-2,3-sialyltransferase activity Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3. tmpak2llvmy_mondo_relaxed.owl GM3 synthase activity|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|SAT 1|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity|GM3 synthetase activity|cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity|ganglioside GM3 synthase activity|CMP-sialic acid:lactosylceramide-sialyltransferase activity|ganglioside GM3 synthetase activity owl:Class HGNC:2263 biolink:NamedThing COX15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002556 biolink:NamedThing microcystic/reticular schwannoma The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. tmpak2llvmy_mondo_relaxed.owl microcystic/reticular schwannoma NCIT:C5321|UMLS:C4054526 owl:Class MONDO:0060629 biolink:NamedThing neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive tmpak2llvmy_mondo_relaxed.owl NDHMSR|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820|UMLS:CN737161 owl:Class NCBITaxon:2732506 biolink:NamedThing Pisoniviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019339 biolink:NamedThing 47,XYY syndrome 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. tmpak2llvmy_mondo_relaxed.owl XYY karyotype|Double Y|Y disomy|47,XYY syndrome|Double Y syndrome|XYY syndrome|47,XYY|47, XYY syndrome|disomy Y|YY syndrome MESH:C535317|NCIT:C85237|GARD:0005674|SCTID:50749006|Orphanet:8|MedDRA:10056894|ICD10:Q98.5 https://github.com/monarch-initiative/mondo/issues/3155 owl:Class MONDO:0019578 biolink:NamedThing nodular lichen myxedematosus Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. tmpak2llvmy_mondo_relaxed.owl atypical tuberous myxedema of Jadassohn-Dosseker Orphanet:90393|SCTID:717257000|ICD10:L98.5|UMLS:C4273968 owl:Class MONDO:0044644 biolink:NamedThing congenital agenesis of the scrotum tmpak2llvmy_mondo_relaxed.owl congenital scrotal agenesis|congenital absence of the scrotum|congenital scrotal absence Orphanet:495879 owl:Class MONDO:0025389 biolink:NamedThing brucellosis, bovine A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent. tmpak2llvmy_mondo_relaxed.owl disease, bang's|bang's disease|disease, bang|Brucelloses, bovine|bovine brucellosis|Bangs disease|bang disease|bovine Brucelloses MESH:D002007 owl:Class MONDO:0006178 biolink:NamedThing dedifferentiated solitary fibrous tumor A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma. tmpak2llvmy_mondo_relaxed.owl EFO:1000214|NCIT:C79948|UMLS:C2699572 owl:Class MONDO:0004059 biolink:NamedThing dentin sensitivity Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. tmpak2llvmy_mondo_relaxed.owl sensitive dentin UMLS:C0011432|MESH:D003807|DOID:698|SCTID:13468005 owl:Class MONDO:0017211 biolink:NamedThing infectious panuveitis tmpak2llvmy_mondo_relaxed.owl Orphanet:279925|ICD10:H44.1 owl:Class UBERON:0008324 biolink:NamedThing erectile tissue with numerous vascular spaces that may become engorged with blood tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100417 biolink:NamedThing acute myeloid leukemia, WT1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.) tmpak2llvmy_mondo_relaxed.owl AML, WIT-2 Gene Mutation|AML, WAGR Gene Mutation|AML, WT33 Gene Mutation|AML, WT1 mutation|AML, Wilms Tumor 1 Gene Mutation|AML, GUD Gene Mutation|AML, WT1 gene mutation owl:Class CHEBI:50995 biolink:NamedThing secondary amino compound A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups. tmpak2llvmy_mondo_relaxed.owl secondary amino compounds owl:Class MONDO:0003138 biolink:NamedThing subacute glomerulonephritis A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. tmpak2llvmy_mondo_relaxed.owl NCIT:C35801|DOID:4782|SCTID:123609007|UMLS:C1263744 owl:Class MONDO:0019020 biolink:NamedThing PANDAS PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. tmpak2llvmy_mondo_relaxed.owl pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections|pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorder associated with Streptococcus Orphanet:66624|UMLS:CN205481|GARD:0007312|MESH:C537163 owl:Class UBERON:0036290 biolink:NamedThing myocardium of anterior wall of left ventricle tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015408 biolink:NamedThing diffuse lymphatic malformation tmpak2llvmy_mondo_relaxed.owl disseminated lymphatic malformation|diffuse lymphangioma|disseminated lymphangioma|generalized lymphatic anomaly|diffuse lymphangiomatosis|disseminated lymphangiomatosis|Gla ICD10:I89.8|Orphanet:141209|UMLS:C0343090|SCTID:703298001 owl:Class MONDO:0004422 biolink:NamedThing cerebral falx meningioma A meningioma that affects the falx cerebri. tmpak2llvmy_mondo_relaxed.owl meningioma of falx cerebri|falx cerebri meningioma|meningioma of the falx of the cerebrum|meningioma of cerebral falx|meningioma of falx of cerebrum|Falcine meningioma|meningioma of the falx cerebri|meningioma of the cerebral falx|falx cerebri meningioma (disease)|meningioma (disease) of falx cerebri DOID:7986|UMLS:C1333597|NCIT:C5267 owl:Class MONDO:0032738 biolink:NamedThing gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy tmpak2llvmy_mondo_relaxed.owl GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY|GDRM OMIM:618419 owl:Class MONDO:0060720 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation tmpak2llvmy_mondo_relaxed.owl CDGF|congenital disorder of glycosylation with defective fucosylation UMLS:CN248517|OMIMPS:618005 owl:Class MONDO:0030875 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 5 tmpak2llvmy_mondo_relaxed.owl FTDALS5|frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM:619141 owl:Class MONDO:0023170 biolink:NamedThing focal or multifocal malformations in neuronal migration tmpak2llvmy_mondo_relaxed.owl GARD:0002350 https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration owl:Class MONDO:0010259 biolink:NamedThing retinitis pigmentosa 24 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. tmpak2llvmy_mondo_relaxed.owl RP 24|retinitis pigmentosa type 24|RP24|retinitis pigmentosa 24 GARD:0010389|UMLS:C3887982|DOID:0110416|OMIM:300155|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 owl:Class MONDO:0032641 biolink:NamedThing mirror movements 4 tmpak2llvmy_mondo_relaxed.owl MIRROR MOVEMENTS 4|MRMV4 OMIM:618264 owl:Class MONDO:0016079 biolink:NamedThing sporadic Creutzfeldt-Jakob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). tmpak2llvmy_mondo_relaxed.owl sporadic CJD SCTID:713060000|ICD10:A81.0|Orphanet:204|ICD9:046.19|MedDRA:10011384 owl:Class MONDO:0012049 biolink:NamedThing orofaciodigital syndrome VII tmpak2llvmy_mondo_relaxed.owl orofaciodigital syndrome 7|orofaciodigital syndrome VII|oral-Facial-digital syndrome, type 7|Whelan syndrome|OFD7|orofaciodigital syndrome type 7|orofaciodigital syndrome type VII|Ofds 7 UMLS:C0796100|DOID:0060377|UMLS:CN206429|MESH:C563104|OMIM:608518|Orphanet:90649 owl:Class MONDO:0001415 biolink:NamedThing atrophy of testis Loss of testicular volume. tmpak2llvmy_mondo_relaxed.owl testicular atrophy NCIT:C123259|SCTID:17585008|DOID:11994|ICD9:608.3|UMLS:C0156312|ICD10:N50.0 owl:Class MONDO:0044312 biolink:NamedThing immunoskeletal dysplasia with neurodevelopmental abnormalities tmpak2llvmy_mondo_relaxed.owl IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities|ISDNA OMIM:617425|UMLS:C4479452 owl:Class NCBITaxon:5073 biolink:NamedThing Penicillium tmpak2llvmy_mondo_relaxed.owl Eupenicillium GC_ID:1 NCBITaxon:28577 ncbi_taxonomy owl:Class MONDO:0003058 biolink:NamedThing microcystic meningioma A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. tmpak2llvmy_mondo_relaxed.owl microcystic meningioma (morphologic abnormality)|microcystic meningioma NCIT:C4721|DOID:4594|UMLS:C1384408|EFO:1000376 owl:Class MONDO:0011463 biolink:NamedThing polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. tmpak2llvmy_mondo_relaxed.owl polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive Orphanet:538096|MESH:C565773|OMIM:604431|UMLS:C1858353 owl:Class MONDO:0023157 biolink:NamedThing fibular hypoplasia scapulo pelvic dysplasia absent tmpak2llvmy_mondo_relaxed.owl GARD:0002333 https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent owl:Class NCBITaxon:6936 biolink:NamedThing Argasidae tmpak2llvmy_mondo_relaxed.owl soft ticks|softbacked ticks GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000553 biolink:NamedThing uterine corpus endometrial carcinoma A endometrial carcinoma (disease) that involves the body of uterus. tmpak2llvmy_mondo_relaxed.owl body of uterus endometrial carcinoma (disease)|endometrial carcinoma (disease) of body of uterus DOID:0050939 owl:Class MONDO:0006539 biolink:NamedThing diffuse lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. tmpak2llvmy_mondo_relaxed.owl diffuse lipomatosis UMLS:C1333298|EFO:1000687|DOID:3923|NCIT:C6504 owl:Class MONDO:0001697 biolink:NamedThing reading disorder A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process. tmpak2llvmy_mondo_relaxed.owl SCTID:52824009|ICD9:315.00|DOID:13365|ICD9:315.09 owl:Class MONDO:0011634 biolink:NamedThing rippling muscle disease A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch tmpak2llvmy_mondo_relaxed.owl SCTID:709281006|MedDRA:10069417|ICD9:359.29|ICD10:G71.8 https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease owl:Class MONDO:0016207 biolink:NamedThing phacoanaphylactic uveitis Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins. tmpak2llvmy_mondo_relaxed.owl lens-induced iridocyclitis|endophthalmitis phacoanaphylactica|Phacoantigenic endophthalmitis|Phacoallergic endophthalmitis|lens-induced endophthalmitis|lens-induced uveitis|Phako-anaphylactic endophthalmitis UMLS:C1444621|SCTID:410494003|Orphanet:209959|ICD10:H20.2 owl:Class CL:2000084 biolink:NamedThing conjunctiva goblet cell Any goblet cell that is part of a conjunctiva. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-12-02T19:28:38Z cell owl:Class MONDO:0019727 biolink:NamedThing mixed cryoglobulinemia type III Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. tmpak2llvmy_mondo_relaxed.owl MC type III Orphanet:93555|UMLS:CN206634|ICD10:D89.1 owl:Class UBERON:0004914 biolink:NamedThing duodenal papilla One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. tmpak2llvmy_mondo_relaxed.owl papilla duodeni|papilla of duodenum|papilla duodenalis owl:Class MONDO:0001337 biolink:NamedThing inflamed seborrheic keratosis tmpak2llvmy_mondo_relaxed.owl ICD10:L82.0|SCTID:442348004|DOID:11685|ICD9:702.11|UMLS:C0376117 owl:Class MONDO:0023059 biolink:NamedThing Elliott ludman Teebi syndrome tmpak2llvmy_mondo_relaxed.owl multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs UMLS:C2931128|MESH:C536204|GARD:0000189 https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome owl:Class HGNC:2433 biolink:NamedThing CSF1R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015016 biolink:NamedThing anterior segment dysgenesis 6 tmpak2llvmy_mondo_relaxed.owl anterior segment dysgenesis 6|anterior segment dysgenesis type 6|ASGD6 UMLS:C4310623|DOID:0080611|OMIM:617315 owl:Class MONDO:0002799 biolink:NamedThing nodular medulloblastoma A medulloblastoma characterized by nodularity and neuronal differentiation. tmpak2llvmy_mondo_relaxed.owl DOID:3873 owl:Class MONDO:0001044 biolink:NamedThing esophageal atresia A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. tmpak2llvmy_mondo_relaxed.owl imperforate esophagus|congenital esophageal atresia|esophageal atresia (disease)|congenital imperforate esophagus|congenital atresia of esophagus|esophageal atresia|oesophageal atresia esophageal atresia (disease) DOID:10485|GARD:0006381|SCTID:26179002|ICD9:750.3|HP:0002032|ICD10:Q39.0|MESH:D004933|NCIT:C87072 owl:Class MONDO:0005985 biolink:NamedThing Togaviridae infectious disease Virus diseases caused by the togaviridae. tmpak2llvmy_mondo_relaxed.owl Togaviridae caused disease or disorder|Togaviridae disease or disorder EFO:0007513|GARD:0007776|UMLS:C0040361|MESH:D014036 owl:Class MONDO:0015271 biolink:NamedThing idiopathic camptocormia Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. tmpak2llvmy_mondo_relaxed.owl bent spine syndrome|idiopathic progressive lumbar kyphosis|bent spine|idiopathic camptocormism|camptocormia|camptocormism GARD:0001063|ICD10:M43.8|Orphanet:1320|SCTID:13534001|MESH:C537968|MedDRA:10069646 owl:Class MONDO:0029130 biolink:NamedThing polydactyly, postaxial, type A8 tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, type A8|PAPA8 OMIM:618123 owl:Class MONDO:0008107 biolink:NamedThing nystagmus, hereditary vertical tmpak2llvmy_mondo_relaxed.owl nystagmus, hereditary vertical|hereditary vertical nystagmus|congenital hereditary vertical nystagmus OMIM:164150|MESH:C537857|UMLS:C1834078|GARD:0009604 https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical owl:Class MONDO:0014875 biolink:NamedThing hyperaldosteronism, familial, type IV tmpak2llvmy_mondo_relaxed.owl aldosteronism, primary, and hypertension|hyperaldosteronism, familial, type 4|hyperaldosteronism, familial, type IV; HALD4|HALD4|FH 4|hyperaldosteronism, familial, type IV OMIM:617027|UMLS:C4310756 owl:Class MONDO:0018991 biolink:NamedThing hepatoportal sclerosis Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. tmpak2llvmy_mondo_relaxed.owl obliterative portal venopathy ICD10:K74.1|Orphanet:64743|UMLS:C4273756|SCTID:718096004 owl:Class MONDO:0100072 biolink:NamedThing neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. tmpak2llvmy_mondo_relaxed.owl 2019-01-23 23:06:10+00:00 This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo). owl:Class HGNC:7601 biolink:NamedThing MYO3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001999 biolink:NamedThing primary pulmonary hypertension Increased blood pressure in the arteries of the lungs; the etiology is unknown. tmpak2llvmy_mondo_relaxed.owl primary pulmonary hypertension|pulmonary hypertension, primary DOID:14557|ICD10:I27.0|ICD9:416.0 owl:Class MONDO:0018844 biolink:NamedThing urachal cyst Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. tmpak2llvmy_mondo_relaxed.owl urachal cyst (disease)|urachal cyst urachal cyst (disease) HP:0012618|SCTID:17234001|Orphanet:488|MESH:D014496|ICD10:Q64.4|NCIT:C85216|GARD:0005425|MedDRA:10065375 owl:Class UBERON:0013239 biolink:NamedThing future glans penis A future glans that is part of a male genital tubercle. tmpak2llvmy_mondo_relaxed.owl glans of male genital tubercle owl:Class MONDO:0032575 biolink:NamedThing diarrhea 9 tmpak2llvmy_mondo_relaxed.owl DIAR9|DIARRHEA 9 OMIM:618168 owl:Class MONDO:0042908 biolink:NamedThing Schaap-Taylor-Baraitser syndrome tmpak2llvmy_mondo_relaxed.owl Schaap Taylor Baraitser syndrome|cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature GARD:0000248 owl:Class MONDO:0025712 biolink:NamedThing angioedema, hereditary, 4 tmpak2llvmy_mondo_relaxed.owl HAE4 OMIM:619360 owl:Class MONDO:0016308 biolink:NamedThing Niemann-Pick disease type C, late infantile neurologic onset tmpak2llvmy_mondo_relaxed.owl UMLS:CN201114|Orphanet:216978|ICD10:E75.2 owl:Class HGNC:26530 biolink:NamedThing CFAP53 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006875 biolink:NamedThing ocular hypertension Abnormally high intraocular pressure. tmpak2llvmy_mondo_relaxed.owl ICD10:H40.05|SCTID:4210003|DOID:9282|UMLS:C0028840|MedDRA:10030043|ICD9:365.04|EFO:1001069|MESH:D009798 owl:Class MONDO:0002221 biolink:NamedThing urethral urothelial papilloma Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003 tmpak2llvmy_mondo_relaxed.owl urethral urothelial papilloma|urethra urothelial papilloma DOID:2140|NCIT:C5061|UMLS:C1519826 owl:Class MONDO:0008186 biolink:NamedThing pancytopenia and occlusive vascular disease tmpak2llvmy_mondo_relaxed.owl pancytopenia and occlusive vascular disease MESH:C566836|UMLS:C1868652|OMIM:167850 owl:Class GO:0072503 biolink:NamedThing cellular divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018192 biolink:NamedThing paratesticular adenocarcinoma tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of paratestis|adenocarcinoma of the paratestis ICD10:C63.1|ICD10:C63.7|ICD10:C63.2|Orphanet:363478|ICD10:C63.0|ICD10:C63.8 owl:Class UBERON:0007243 biolink:NamedThing tunica media of vein A tunica media that is part of a vein. tmpak2llvmy_mondo_relaxed.owl venous media|tunica media (venae) owl:Class MONDO:0016782 biolink:NamedThing paternal 14q32.2 hypomethylation syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN202038|Orphanet:254531 owl:Class MONDO:0013765 biolink:NamedThing coronary heart disease, susceptibility to, 6 Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. tmpak2llvmy_mondo_relaxed.owl CHDS6|MMP3 coronary artery disease|coronary artery disease caused by mutation in MMP3|coronary heart disease, susceptibility to, type 6|coronary heart disease, susceptibility to, 6|susceptibility to coronary heart disease 6 OMIM:614466 owl:Class MONDO:0032639 biolink:NamedThing deafness, autosomal recessive 112 tmpak2llvmy_mondo_relaxed.owl DFNB112|DEAFNESS, AUTOSOMAL RECESSIVE 112 DOID:0111637|OMIM:618257 owl:Class PATO:0000060 biolink:NamedThing spatial pattern A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. tmpak2llvmy_mondo_relaxed.owl distribution|pattern owl:Class MONDO:0030702 biolink:NamedThing autoimmune atherosclerosis An autoimmune form of atherosclerosis. tmpak2llvmy_mondo_relaxed.owl DOID:0040096 owl:Class MONDO:0010253 biolink:NamedThing migraine, familial typical, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl Mgr2|Mfts|migraine, familial typical, susceptibility to, type 2|migraine with or without aura, susceptibility to, 2|migraine, familial typical, susceptibility to, 2 OMIM:300125 owl:Class UBERON:0004183 biolink:NamedThing placental labyrinth blood vessel The embryonic vessels grow through the layer to come in close contact with the maternal blood supply tmpak2llvmy_mondo_relaxed.owl blood vessel of labyrinthine layer of placenta|labyrinthine layer of placenta blood vessel|labyrinthine layer blood vessel|blood vessel of placenta labyrinth|blood vessel of labyrinthine layer|placenta labyrinth blood vessel owl:Class HGNC:13030 biolink:NamedThing ZBTB18 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015294 biolink:NamedThing nephrogenic systemic fibrosis Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. tmpak2llvmy_mondo_relaxed.owl NSF|NFD|nephrogenic fibrosing dermopathy ICD9:588.89|NCIT:C84920|MESH:D054989|EFO:1001814|Orphanet:137617|UMLS:C3888044|UMLS:C1619692|GARD:0009725|MedDRA:10067467|SCTID:424114000 https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis owl:Class MONDO:0014430 biolink:NamedThing intellectual disability, autosomal recessive 45 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, autosomal recessive 45|MRT45|FBXO31 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 45|mental retardation, autosomal recessive type 45|intellectual disability, autosomal recessive type 45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31 OMIM:615979|UMLS:C4014864 owl:Class MONDO:0005256 biolink:NamedThing moderate heart failure Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest. tmpak2llvmy_mondo_relaxed.owl Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003148 owl:Class MONDO:0009305 biolink:NamedThing granulocytopenia with immunoglobulin abnormality tmpak2llvmy_mondo_relaxed.owl granulocytopenia with immunoglobulin abnormality OMIM:233600|MESH:C565535|UMLS:C1856263 owl:Class MONDO:0002606 biolink:NamedThing epithelioid type angiomyolipoma An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia. tmpak2llvmy_mondo_relaxed.owl DOID:3318|NCIT:C38151|UMLS:C1333426 owl:Class MONDO:0011981 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, type 2|autoimmune thyroid disease, susceptibility to, 2|AITD2 OMIM:608174|UMLS:C1842445 owl:Class MONDO:0001385 biolink:NamedThing cortical blindness Visual impairment due to visual cortex dysfunction. tmpak2llvmy_mondo_relaxed.owl ICD9:377.75|NCIT:C118707|UMLS:C0155320|SCTID:68574006|MESH:D019575|ICD10:H47.61|DOID:11831 owl:Class HGNC:2897 biolink:NamedThing DLC1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0019184 biolink:NamedThing nonribosomal peptide biosynthetic process The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. tmpak2llvmy_mondo_relaxed.owl non-ribosomal peptide biosynthesis|non-ribosomal peptide formation|non-ribosomal peptide biosynthetic process|nonribosomal peptide biosynthesis|non-ribosomal peptide synthesis|nonribosomal peptide synthesis|nonribosomal peptide synthetase|nonribosomal peptide formation|nonribosomal peptide anabolism owl:Class HGNC:6481 biolink:NamedThing LAMA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002675 biolink:NamedThing neurofibrosarcoma A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) tmpak2llvmy_mondo_relaxed.owl neurosarcoma [obs]|neurosarcoma DOID:3512|GARD:0008211|MESH:D018319 owl:Class MONDO:0011557 biolink:NamedThing radiation sensitivity/chromosome instability syndrome, autosomal dominant tmpak2llvmy_mondo_relaxed.owl radiation sensitivity/chromosome instability syndrome, autosomal dominant MESH:C565326|OMIM:605463|UMLS:C1854244 owl:Class MONDO:0008846 biolink:NamedThing atransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. tmpak2llvmy_mondo_relaxed.owl atransferrinemia|hypotransferrinemia, familial|transferrin serum level quantitative trait locus 1|hereditary atransferrinemia|congenital hypotransferrinemia|familial hypotransferrinemia|congenital atransferrinemia GARD:0009595|DOID:0050649|UMLS:C0521802|ICD10:E88.0|SCTID:111571009|MESH:C538259|Orphanet:1195|NCIT:C125693|OMIM:209300 https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia owl:Class NCBITaxon:426439 biolink:NamedThing Haemaphysalinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007002 biolink:NamedThing trochlear nerve disease A disease involving the trochlear nerve. tmpak2llvmy_mondo_relaxed.owl superior oblique muscle innervation disorder|trochlear nerve disorder|disease or disorder of trochlear nerve|trochlear nerve disease|disorder of trochlear nerve|IVth nerve disorder|disease of trochlear nerve|IVth cranial nerve disorder|trochlear nerve disease or disorder NCIT:C78395|EFO:1001220|MESH:D020432|ICD9:378.53|MedDRA:10074765|DOID:13864|ICD10:H49.1 owl:Class MONDO:0014626 biolink:NamedThing spinocerebellar ataxia type 41 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 41|spinocerebellar ataxia type 41|SCA41 DOID:0111744|Orphanet:458798|EFO:0009058|OMIM:616410|ICD10:G11.2|UMLS:C4225158 owl:Class GO:0002351 biolink:NamedThing serotonin production involved in inflammatory response The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpak2llvmy_mondo_relaxed.owl serotonin production involved in acute inflammatory response owl:Class UBERON:0004946 biolink:NamedThing submucosa of ileum A submucosa that is part of a ileum [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl ileal submucosa|ileum submucosa owl:Class MONDO:0011216 biolink:NamedThing hemochromatosis type 2A Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. tmpak2llvmy_mondo_relaxed.owl HJV hemochromatosis type 2|HFE2A|hemochromatosis type 2 caused by mutation in HJV|hemochromatosis, type 2A|hemochromatosis type 2A|hemochromatosis, juvenile|hemochromatosis, type 2 OMIM:602390|DOID:0111027 owl:Class MONDO:0012959 biolink:NamedThing psoriasis 11, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 11, susceptibility to|PSORS11 OMIM:612599|DOID:0111285 owl:Class FOODON:00001118 biolink:NamedThing cattle dairy food product tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008326 biolink:NamedThing pseudocholinesterase, increase in plasma level of tmpak2llvmy_mondo_relaxed.owl pseudocholinesterase, increase in plasma level OF OMIM:177600 owl:Class MONDO:0100115 biolink:NamedThing acute flaccid myelitis An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. tmpak2llvmy_mondo_relaxed.owl AFM NCIT:C128379 owl:Class MONDO:0017787 biolink:NamedThing erythroderma desquamativum tmpak2llvmy_mondo_relaxed.owl Leiner-Moussous desquamative erythroderma|erythroderma desquamativum of infancy|generalized erythroderma, diarrhea, and failure to thrive|erythroderma desquamativa of Leiner|Leiner disease GARD:0002191|MESH:C535512|ICD10:L21.1|Orphanet:314|UMLS:CN203737|HGNC:1331 Editors note: check whether xref to HGNC:1331 is appropriate https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner owl:Class HGNC:7097 biolink:NamedThing MIF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019754 biolink:NamedThing multicentric Castleman disease Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. tmpak2llvmy_mondo_relaxed.owl multicentric Angiofollicular lymphoid hyperplasia|PMCD|idiopathic multicentric Castleman's disease|multicentric Castleman's disease|MCD|multicentric giant lymph node hyperplasia|plasmablastic multicentric Castleman disease|multicentric plasma cell variant of Castleman's disease NCIT:C27855|Orphanet:93686|url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|DOID:0111152|ICD10:D36.0|GARD:9644|UMLS:C1334815|GARD:0009644 owl:Class MONDO:0016087 biolink:NamedThing progressive non-infectious anterior vertebral fusion Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. tmpak2llvmy_mondo_relaxed.owl Copenhagen syndrome UMLS:C4304839|ICD10:Q87.8|Orphanet:2062|SCTID:719268008|UMLS:CN200850 owl:Class MONDO:0007822 biolink:NamedThing incisors, long upper central tmpak2llvmy_mondo_relaxed.owl incisors, long upper central OMIM:147300 owl:Class MONDO:0033637 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 7 tmpak2llvmy_mondo_relaxed.owl MC4DN7 OMIM:619051 owl:Class UBERON:0005567 biolink:NamedThing rhombomere 1 lateral wall A rhombomere lateral wall that is part of a rhombomere 1. tmpak2llvmy_mondo_relaxed.owl lateral wall rhombomere 1 owl:Class MONDO:0008807 biolink:NamedThing apnea, central sleep tmpak2llvmy_mondo_relaxed.owl sleep apnea, lethal central|apnea, central sleep OMIM:107640|UMLS:C0520680|OMIM:207720 See https://github.com/monarch-initiative/mondo/issues/46 owl:Class HGNC:18420 biolink:NamedThing SETD2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30927 biolink:NamedThing SLC6A20 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002300 biolink:NamedThing Mutism tmpak2llvmy_mondo_relaxed.owl Muteness|Inability to speak UMLS:C0026884|MSH:D009155|SNOMEDCT_US:88052002 human_phenotype owl:Class MONDO:0020183 biolink:NamedThing neurogenic palpebral tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:98593|UMLS:CN207043 owl:Class HGNC:9912 biolink:NamedThing RBMY1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021334 biolink:NamedThing immunoproliferative disorder Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. tmpak2llvmy_mondo_relaxed.owl Immunoproliferative disease|immunoproliferative disorder|Immunoproliferative disorder|Disorders, Immunoproliferative|Immunoproliferative Disorders|Immunoproliferative Disorder|Disorder, Immunoproliferative SCTID:127071007|ICD9:203.80|MESH:D007160|UMLS:C0021070 owl:Class HGNC:16002 biolink:NamedThing MPLKIP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018254 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor type tmpak2llvmy_mondo_relaxed.owl Orphanet:370015|ICD10:Q77.8 owl:Class MONDO:0008065 biolink:NamedThing nasal groove, familial transverse tmpak2llvmy_mondo_relaxed.owl nasal groove, familial transverse OMIM:161500|UMLS:C1834370 owl:Class HGNC:5173 biolink:NamedThing HRAS tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0120039 biolink:NamedThing plasma membrane bounded cell projection morphogenesis The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004851 biolink:NamedThing toxic myocarditis tmpak2llvmy_mondo_relaxed.owl UMLS:C0155691|SCTID:31993003|ICD9:422.93|DOID:9694 owl:Class MONDO:0007493 biolink:NamedThing torsion dystonia 4 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). tmpak2llvmy_mondo_relaxed.owl autosomal dominant torsion dystonia-4|whispering dysphonia|dystonia musculorum deformans 4|dystonia 4, torsion, autosomal dominant|torsion dystonia type 4|hereditary whispering dysphonia|primary dystonia, DYT4 type|DYT4|whispering dysphonia, hereditary UMLS:C1851943|GARD:0010138|SCTID:719276005|DOID:0090041|Orphanet:98805|ICD10:G24.1|UMLS:C1860315|OMIM:128101 owl:Class MONDO:0016020 biolink:NamedThing frontal encephalocele tmpak2llvmy_mondo_relaxed.owl anterior encephalocele ICD10:Q01.0|Orphanet:1931|SCTID:253103006 owl:Class MONDO:0017948 biolink:NamedThing ABetaA21G amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. tmpak2llvmy_mondo_relaxed.owl HCHWA, Flemish type|cerebral amyloid angiopathy, APP-related, Flemish variant|ABeta amyloidosis, Flemish type|ABetaA21G-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Flemish type ICD10:E85.4+|ICD10:I68.0*|Orphanet:324718 owl:Class MONDO:0000893 biolink:NamedThing mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells. tmpak2llvmy_mondo_relaxed.owl mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|indeterminate bronchioloalveolar carcinoma DOID:0080184|UMLS:C1266036|ICDO:8254/3|NCIT:C7270 owl:Class MONDO:0044308 biolink:NamedThing bardet-biedl syndrome 21 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 21|BBS21 OMIM:617406|UMLS:C4319932 owl:Class MONDO:0017607 biolink:NamedThing caudal regression sequence Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. tmpak2llvmy_mondo_relaxed.owl caudal dysplasia|sacral agenesis syndrome|sacral regression syndrome MedDRA:10059387|ICD10:Q76.0|GARD:0006007|Orphanet:3027|UMLS:C1867774|MedDRA:10054842|NCIT:C124505|MedDRA:10068896|UMLS:C1838568 owl:Class MONDO:0001772 biolink:NamedThing ulcer of anus and rectum tmpak2llvmy_mondo_relaxed.owl anal and rectal ulcer DOID:13662|ICD9:569.41|ICD10:K62.6 owl:Class MONDO:0019029 biolink:NamedThing segmental odontomaxillary dysplasia Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. tmpak2llvmy_mondo_relaxed.owl SOD ICD9:524.89|Orphanet:67039|ICD10:K00.4|SCTID:699756005 owl:Class MONDO:0008750 biolink:NamedThing microcephaly-albinism-digital anomalies syndrome Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. tmpak2llvmy_mondo_relaxed.owl albinism-microcephaly digital anomalies syndrome|albinism-microcephaly-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|microcephaly-albinism-digital anomalies syndrome Orphanet:2513|MESH:C537322|ICD10:Q87.8|GARD:0003604|OMIM:203340|UMLS:C1859910|SCTID:719377004 https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome owl:Class MONDO:0021905 biolink:NamedThing apert-like polydactyly syndrome tmpak2llvmy_mondo_relaxed.owl apert like polydactyly syndrome GARD:0000746 https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome owl:Class MONDO:0030005 biolink:NamedThing epilepsy, early-onset, with or without developmental delay tmpak2llvmy_mondo_relaxed.owl epilepsy, early-onset, with or without developmental delay|EPEDD|EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY OMIM:618832 owl:Class MONDO:0005478 biolink:NamedThing torsades de pointes A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. tmpak2llvmy_mondo_relaxed.owl UMLS:C0040479|MESH:D016171|EFO:0005307|HP:0001664|SCTID:31722008 owl:Class MONDO:0100393 biolink:NamedThing acute myeloid leukemia, t(8;16) Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.) tmpak2llvmy_mondo_relaxed.owl AML, t(8;16) owl:Class HGNC:18481 biolink:NamedThing ATP6V0A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019975 biolink:NamedThing pellagra Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. tmpak2llvmy_mondo_relaxed.owl pellagra|niacin-tryptophan deficiency|niacin deficiency UMLS:C4317126|ICD9:265.2|GARD:0010014|SCTID:418279001|UMLS:C0030783|Orphanet:97352|MedDRA:10029400|ICD10:E52|MESH:D010383|DOID:8457|EFO:0008570 https://rarediseases.info.nih.gov/diseases/10014/pellagra owl:Class NCBITaxon:12086 biolink:NamedThing Human poliovirus 3 tmpak2llvmy_mondo_relaxed.owl Human poliovirus type 3|Poliovirus 3|Polio virus 3|Poliovirus type 3|HPV-3 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018900 biolink:NamedThing corticosteroid-sensitive aseptic abscess syndrome Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. tmpak2llvmy_mondo_relaxed.owl aseptic abscesses syndrome|aseptic systemic abscesses|corticosteroid-sensitive aseptic abscesses|disseminated aseptic abscesses SCTID:720751000|GARD:0010946|UMLS:CN205271|Orphanet:54251 owl:Class MONDO:0002613 biolink:NamedThing histrionic personality disorder A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. tmpak2llvmy_mondo_relaxed.owl histrionic personality disorder (disease)|histrionic personality disorder histrionic personality disorder (disease) ICD10:F60.4|SCTID:55341008|ICD9:301.59|DOID:334|HP:0012077|NCIT:C92634|ICD9:301.5|ICD9:301.50|MESH:D006677 owl:Class NCBITaxon:439490 biolink:NamedThing unclassified ssRNA viruses tmpak2llvmy_mondo_relaxed.owl unassigned ssRNA viruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:29515 biolink:NamedThing PLEKHG2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011031 biolink:NamedThing Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023583 peter 2011-03-04T08:01:07Z human_phenotype owl:Class MONDO:0007236 biolink:NamedThing branchiootorenal syndrome 1 tmpak2llvmy_mondo_relaxed.owl BOR1|branchiootorenal dysplasia|branchiootorenal syndrome type 1|branchiootorenal syndrome 1|Melnick-Fraser syndrome DOID:0111423|OMIM:113650 owl:Class MONDO:0032854 biolink:NamedThing zimmermann-laband syndrome 3 tmpak2llvmy_mondo_relaxed.owl ZLS3|ZIMMERMANN-LABAND SYNDROME 3 OMIM:618658 owl:Class MONDO:0017354 biolink:NamedThing infantile glycine encephalopathy Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. tmpak2llvmy_mondo_relaxed.owl infantile onset glycine encephalopathy|infantile NKH|glycine encephalopathy of infancy|infantile non-ketotic hyperglycinemia Orphanet:289860|ICD10:E72.5 owl:Class MONDO:0015715 biolink:NamedThing severe hemophilia B Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl severe factor IX deficiency|severe hemophilia type B Orphanet:169793|UMLS:CN200227|ICD10:D67 owl:Class MONDO:0002958 biolink:NamedThing signet ring basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma|signet Ring cell basal cell carcinoma NCIT:C38110|UMLS:C1519320|DOID:4304 owl:Class NCBITaxon:2732515 biolink:NamedThing Blubervirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003570 biolink:NamedThing lipid-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. tmpak2llvmy_mondo_relaxed.owl lipid-rich carcinoma (morphologic abnormality)|lipid-rich carcinoma ICDO:8314/3|NCIT:C4152|UMLS:C0334318|DOID:5658 owl:Class MONDO:0008309 biolink:NamedThing primary release disorder of platelets tmpak2llvmy_mondo_relaxed.owl bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets UMLS:C1867770|GARD:0010357|MESH:C566759|OMIM:176630 https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets owl:Class UBERON:0015083 biolink:NamedThing proximal tarsal bone pre-cartilage condensation A proximal tarsal endochondral element that is composed primarily of a pre-cartilage condensation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007499 biolink:NamedThing ear folding tmpak2llvmy_mondo_relaxed.owl ear folding OMIM:128500 owl:Class MONDO:0032902 biolink:NamedThing Joubert syndrome 36 tmpak2llvmy_mondo_relaxed.owl JOUBERT SYNDROME 36|JBTS36 OMIM:618763 owl:Class MONDO:0002139 biolink:NamedThing sigmoid disease Pathological processes in the sigmoid colon region of the large intestine (intestine, large). tmpak2llvmy_mondo_relaxed.owl MESH:D012810|DOID:1897|UMLS:C0037072 owl:Class MONDO:0023288 biolink:NamedThing green sandford davison syndrome tmpak2llvmy_mondo_relaxed.owl anal anomalies, renal tract abnormalities, genital malformations, and syndactyly|renal and anogenital malformations with syndactyly UMLS:C2931777|GARD:0002447|MESH:C538221 https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome owl:Class MONDO:0000552 biolink:NamedThing breast lobular carcinoma An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. tmpak2llvmy_mondo_relaxed.owl lobule of mammary gland carcinoma|lobular carcinoma|lobular carcinoma of the breast|lobular adenocarcinoma|lobular breast carcinoma|carcinoma of lobule of mammary gland|lobular carcinoma of breast SCTID:278054005|EFO:0008509|DOID:0050938|ICDO:8520/3|NCIT:C3771 owl:Class MONDO:0016123 biolink:NamedThing muscular tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:206982 Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. owl:Class MONDO:0017835 biolink:NamedThing lymphocytic hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl lymphoid HES|lymphocytic variant HES|HES-L Orphanet:314970|UMLS:CN203810|ICD10:D47.5 owl:Class MONDO:0006928 biolink:NamedThing proliferative vitreoretinopathy Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. tmpak2llvmy_mondo_relaxed.owl vitreoretinopathy, neovascular inflammatory, autosomal dominant|retinitis proliferans|ADNIV|vitreoretinopathy, neovascular inflammatory|autosomal dominant neovascular inflammatory vitreoretinopathy|VRNI DOID:9719|MESH:D018630|MedDRA:10057896|OMIM:193235|ICD9:362.29|Orphanet:329211|ICD10:H35.2|UMLS:C0242852|SCTID:232016005|EFO:1001129 owl:Class MONDO:0016990 biolink:NamedThing acquired prothrombin deficiency An instance of prothrombin deficiency that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired factor II deficiency|acquired prothrombin deficiency|hypoprothrombinemia, acquired|acquired hypoprothrombinemia UMLS:C0392610|Orphanet:26348|MESH:C538174|NCIT:C131622|ICD10:D68.4|GARD:0000475|SCTID:4152002 owl:Class UBERON:0004851 biolink:NamedThing aorta endothelium the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall tmpak2llvmy_mondo_relaxed.owl aortic endothelium|trunk of systemic arterial tree endothelium|endothelium of trunk of aortic tree|endothelium of adult aorta|endothelium of trunk of systemic arterial tree|trunk of aortic tree endothelium|endothelium of aorta|adult aorta endothelium owl:Class MONDO:0032793 biolink:NamedThing O'Donnell-Luria-Rodan syndrome tmpak2llvmy_mondo_relaxed.owl O'Donnell-Luria-Rodan syndrome|ODLURO OMIM:618512 owl:Class MONDO:0006714 biolink:NamedThing coronary aneurysm Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. tmpak2llvmy_mondo_relaxed.owl aneurysm of coronary vessels|aneurysmal lesion of coronary artery|arteriovenous aneurysm of coronary vessels|coronary artery aneurysm HP:0030882|GARD:0006200|SCTID:50570003|EFO:1000881|MedDRA:10002348|UMLS:C0010051|ICD9:414.11|ICD10:I25.41|DOID:3362|MESH:D003323|ICD10:I25.4 owl:Class MONDO:0008859 biolink:NamedThing berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification tmpak2llvmy_mondo_relaxed.owl berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification|cerebral aneurysm-cirrhosis syndrome GARD:0008552|UMLS:C1859519|OMIM:210050|MESH:C565905 https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification owl:Class MONDO:0006214 biolink:NamedThing follicular variant thyroid gland papillary carcinoma A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl FVPTC EFO:1000261|NCIT:C126594|UMLS:C3714651 owl:Class MONDO:0001167 biolink:NamedThing spastic diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. tmpak2llvmy_mondo_relaxed.owl cerebral spastic infantile paralysis|Little's disease|infantile spastic cerebral palsy|diplegic infantile cerebral palsy|cerebral palsy spastic diplegic|Little disease|infantile diplegic cerebral palsy NCIT:C34781|ICD10:G80.1|MESH:C537945|DOID:10965|SCTID:281411007|ICD9:343.0|GARD:0009637|UMLS:C0270804 MONDO:0022698 https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy owl:Class MONDO:0008790 biolink:NamedThing anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism tmpak2llvmy_mondo_relaxed.owl anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism UMLS:C1859785|OMIM:206400|MESH:C565952 owl:Class MONDO:0014895 biolink:NamedThing developmental and epileptic encephalopathy, 40 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. tmpak2llvmy_mondo_relaxed.owl GUF1 early infantile epileptic encephalopathy|EIEE40|epileptic encephalopathy, early infantile, type 40|early infantile epileptic encephalopathy caused by mutation in GUF1|epileptic encephalopathy, early infantile, 40|DEE40|epileptic encephalopathy, early infantile, 40; EIEE40 OMIM:617065|DOID:0080427|UMLS:C4310737 owl:Class MONDO:0004824 biolink:NamedThing neonatal candidiasis A fungal infection by any of the Candida species in a newborn infant up to 28 days old. tmpak2llvmy_mondo_relaxed.owl neonatal candida infection|neonatal Monilia infection|neonatal Candida infection|neonatal moniliasis SCTID:414821002|NCIT:C116810|ICD9:771.7|ICD10:P37.5|UMLS:C0276682|DOID:9577 owl:Class MONDO:0008164 biolink:NamedThing otosclerosis 1 tmpak2llvmy_mondo_relaxed.owl otosclerosis 1|OTSC1|OTS UMLS:CN032031|OMIM:166800 owl:Class MONDO:0010382 biolink:NamedThing fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. tmpak2llvmy_mondo_relaxed.owl FXTAS|FXTAS syndrome|fragile 10 tremor/ataxia syndrome|fragile X tremor/ataxia syndrome MESH:C564105|DOID:0050879|OMIM:300623|UMLS:C1839780|NCIT:C126566|Orphanet:93256|SCTID:448045004|ICD10:G11.2 owl:Class MONDO:0018625 biolink:NamedThing classic stiff person syndrome tmpak2llvmy_mondo_relaxed.owl classic SPS Orphanet:443192|UMLS:CN237666|ICD10:G25.8 owl:Class MONDO:0043836 biolink:NamedThing tuberculosis, spinal Tuberculosis of the vertebrae. tmpak2llvmy_mondo_relaxed.owl tuberculous spondylitis|pott's disease|pott's paraplegia|disease, pott's|spinal tuberculosis|tuberculosis of spine (pott's)|tuberculosis of vertebral column|Potts disease|disease, pott|spinal Tuberculoses|tuberculosis of vertebral column - pott's|pott disease|Tuberculoses, spinal NCIT:C35087|MESH:D014399|SCTID:35984006 owl:Class HGNC:243 biolink:NamedThing ADD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020414 biolink:NamedThing persistent fifth aortic arch tmpak2llvmy_mondo_relaxed.owl ICD10:Q25.4|Orphanet:99076 owl:Class MONDO:0008110 biolink:NamedThing ocular dominance tmpak2llvmy_mondo_relaxed.owl ocular dominance OMIM:164190 owl:Class MONDO:0012258 biolink:NamedThing epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex with migratory circinate erythema|EBS-migr Orphanet:158681|ICD10:Q81.0|UMLS:C1836284|MESH:C563730|OMIM:609352|SCTID:716700003 owl:Class MONDO:0023607 biolink:NamedThing Laurence-Prosser-Rocker syndrome tmpak2llvmy_mondo_relaxed.owl Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly|Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect UMLS:C2931651|MESH:C537882|GARD:0003201 https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome owl:Class NCBITaxon:2509494 biolink:NamedThing Merbecovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005916 biolink:NamedThing placenta accreta The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) tmpak2llvmy_mondo_relaxed.owl placenta Percreta|placenta Increta|Percreta, placenta|Increta, placenta|accreta, placenta DOID:4744|ICD10:O43.21|MESH:D010921|SCTID:70129008|EFO:0007440|NCIT:C26856 owl:Class NCBITaxon:63673 biolink:NamedThing Turbo cornutus tmpak2llvmy_mondo_relaxed.owl Batillus cornutus|Turbo (Taeniaturbo) cornutus|Turbo (Batillus) cornutus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012169 biolink:NamedThing premature ovarian failure 3 tmpak2llvmy_mondo_relaxed.owl premature ovarian failure type 3|Pof3|premature ovarian failure 3 OMIM:608996|MESH:C563816|UMLS:C1837008 owl:Class MONDO:0012780 biolink:NamedThing celiac disease, susceptibility to, 11 tmpak2llvmy_mondo_relaxed.owl celiac disease, susceptibility to, 11|CELIAC11|gluten-sensitive enteropathy, susceptibility to, 11 OMIM:612009 owl:Class MONDO:0000485 biolink:NamedThing spasmodic dystonia A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx. tmpak2llvmy_mondo_relaxed.owl laryngeal dystonia|adductor spasmodic dysphonia|abductor spasmodic dysphonia|laryngeal dyskinesia|spastic dysphonia|mixed spasmodic dysphonia (type)|spasmodic dysphonia UMLS:C1963946|MESH:D055154|GARD:0007668|ICD9:478.79|DOID:0050844|Orphanet:93961|SCTID:3331000119108 owl:Class MONDO:0003482 biolink:NamedThing Pediculus humanus corporis infestation A infectious disease involving the Pediculus humanus corporis. tmpak2llvmy_mondo_relaxed.owl infections, Pediculus humanus corporis|body louse infestation|Pediculus humanus corporis infection|Pediculus corporis|Pediculus corporis [body louse]|Pediculus humanus infestation SCTID:25188002|UMLS:C0030758|DOID:5513|ICD10:B85.1|ICD9:132.1 owl:Class NCBITaxon:1437201 biolink:NamedThing Pentapetalae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0700001 biolink:NamedThing shrinking lung syndrome A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient. tmpak2llvmy_mondo_relaxed.owl small lungs|SLS|shrinking of the lung Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis. http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:51026 biolink:NamedThing Oxyuridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:51025 biolink:NamedThing Oxyuroidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:24662 biolink:NamedThing hydroxy-amino acid A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1649845 biolink:NamedThing Yersinia pseudotuberculosis complex tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0015791 biolink:NamedThing peripheral precocious puberty Precocious puberty caused by sex hormones. tmpak2llvmy_mondo_relaxed.owl gonadotropin independent precocious puberty|GIPP|gonadotropin-independent precocious puberty|precocious pseudopuberty ICD10:E30.1|SCTID:736606009|Orphanet:178040 owl:Class HGNC:6447 biolink:NamedThing KRT9 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19899 biolink:NamedThing ZFAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016299 biolink:NamedThing holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). tmpak2llvmy_mondo_relaxed.owl Orphanet:2165|ICD10:Q04.2|UMLS:CN201097 owl:Class CHEBI:23482 biolink:NamedThing cyclohexanones Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001927 biolink:NamedThing pulmonary valve insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure. tmpak2llvmy_mondo_relaxed.owl pulmonary valve regurgitation|pulmonary regurgitation|pulmonary regurg.|pulmonic insufficiency|pulmonic valve regurgitation|regurgitation, pulmonary|pulmonary insufficiency following trauma and surgery|pulmonary incompetence, non-rheumatic|pulmonary incompetence|pulmonary valvular regurgitation NCIT:C50848|SCTID:194995005|DOID:14265|MESH:D011665 owl:Class HGNC:17129 biolink:NamedThing SLC39A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014135 biolink:NamedThing pulmonary hypertension, primary, 3 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. tmpak2llvmy_mondo_relaxed.owl pulmonary hypertension, primary, 3|pulmonary hypertension, primary, type 3|primary pulmonary hypertension caused by mutation in CAV1|CAV1 primary pulmonary hypertension|PPH3 OMIM:615343|UMLS:C3809192 owl:Class MONDO:0007651 biolink:NamedThing gastrocutaneous syndrome tmpak2llvmy_mondo_relaxed.owl peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia|gastrocutaneous syndrome Orphanet:2069|UMLS:C1850899|OMIM:137270|GARD:0002438|MESH:C535651 https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome owl:Class UBERON:0002057 biolink:NamedThing phrenic artery An artery that supplies the diaphragm tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18782 biolink:NamedThing CCDC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013846 biolink:NamedThing peripartum cardiomyopathy, susceptibility to tmpak2llvmy_mondo_relaxed.owl peripartum cardiomyopathy, susceptibility to|Ppcm, susceptibility to OMIM:614670 owl:Class HGNC:4326 biolink:NamedThing GLRA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100290 biolink:NamedThing colon serrated polyposis The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. tmpak2llvmy_mondo_relaxed.owl NCIT:C96470|UMLS:C3272797 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010062 biolink:NamedThing spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia with dysmorphism GARD:0004958|OMIM:271270|UMLS:C1849088|ICD10:G11.8|Orphanet:1185|MESH:C564802 owl:Class MONDO:0002693 biolink:NamedThing lateral sinus thrombosis Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure. tmpak2llvmy_mondo_relaxed.owl thrombosis of lateral venous sinus|thrombosis transverse sinus MESH:D020227|SCTID:192761004|UMLS:C0270639|DOID:3574 owl:Class MONDO:0003971 biolink:NamedThing gastric pylorus carcinoma A carcinoma that arises from the pylorus. tmpak2llvmy_mondo_relaxed.owl cancer of the gastric pylorus|gastric pylorus cancer|carcinoma of the pylorus of the stomach|carcinoma of the gastric pylorus|carcinoma of pylorus of stomach|carcinoma of gastric pylorus|gastric pylorus carcinoma|cancer of the pylorus of the stomach|cancer of pylorus of stomach|gastric pylorus (stomach) cancer|cancer of gastric pylorus DOID:6703|UMLS:C1333787|NCIT:C6795 owl:Class NCBITaxon:4447 biolink:NamedThing Liliopsida tmpak2llvmy_mondo_relaxed.owl Monocotyledoneae|monocots|monocotyledons GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class MONDO:0011315 biolink:NamedThing Osebold skeletal dysplasia/osteolysis syndrome tmpak2llvmy_mondo_relaxed.owl Osebold skeletal dysplasia/osteolysis syndrome OMIM:603389|MESH:C566380|UMLS:C1863922 owl:Class MONDO:0033658 biolink:NamedThing neurodevelopmental disorder with seizures and brain atrophy tmpak2llvmy_mondo_relaxed.owl NEDSEBA OMIM:619072 owl:Class MONDO:0100328 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome tmpak2llvmy_mondo_relaxed.owl OMIMPS:614231 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:32925 biolink:NamedThing ATXN8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032913 biolink:NamedThing congenital heart defects, multiple types, 7 tmpak2llvmy_mondo_relaxed.owl CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7|CHTD7 OMIM:618780 owl:Class CHEBI:50681 biolink:NamedThing methotrexate(2-) tmpak2llvmy_mondo_relaxed.owl (2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate|methotrexate owl:Class MONDO:0030268 biolink:NamedThing developmental and epileptic encephalopathy 6B tmpak2llvmy_mondo_relaxed.owl DEE6B|developmental and epileptic encephalopathy 6B OMIM:619317 owl:Class MONDO:0016844 biolink:NamedThing trisomy 20p Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. tmpak2llvmy_mondo_relaxed.owl chromosome 20p duplication|partial trisomy 20p|partial trisomy of chromosome 20p|20p duplication|trisomy 20p|Duplication 20p|partial duplication of chromosome 20p|Duplication of 20p|dup(20p)|trisomy type 20p|partial trisomy of the short arm of chromosome 20|20p trisomy|partial duplication of the short arm of chromosome 20 Orphanet:261318|GARD:0005333|ICD10:Q92.2|ICD9:758.5|MESH:C535371|SCTID:111311004 owl:Class MONDO:0004843 biolink:NamedThing pathologic nystagmus Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. tmpak2llvmy_mondo_relaxed.owl ICD10:H55.00|MESH:D009759|DOID:9650|UMLS:C0028738|ICD10:H55.0|ICD9:379.50 owl:Class MONDO:0012122 biolink:NamedThing moyamoya disease 3 tmpak2llvmy_mondo_relaxed.owl MYMY3|Moyamoya disease 3 OMIM:608796|UMLS:C1837418|MESH:C536993 owl:Class MONDO:0049221 biolink:NamedThing myopia 26, X-linked, female-limited tmpak2llvmy_mondo_relaxed.owl MYP26|myopia 26, X-linked, female-limited UMLS:C4538795|OMIM:301010 owl:Class NCIT:C43431 biolink:NamedThing Activity An active process; excludes processes and mechanisms which fulfill biological functions. tmpak2llvmy_mondo_relaxed.owl Activity|General activity owl:Class MONDO:0000858 biolink:NamedThing neuronal intestinal dysplasia tmpak2llvmy_mondo_relaxed.owl ICD9:751.5|SCTID:253783001|DOID:0080072|UMLS:C0345244 owl:Class MONDO:0019015 biolink:NamedThing omphalocele Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. tmpak2llvmy_mondo_relaxed.owl omphalocele (disease)|omphalocele|congenital omphalocele|omphalocoele|exomphalos|eventration omphalocele (disease) MedDRA:10030308|UMLS:C0795690|SCTID:18735004|ICD10:Q79.2|Orphanet:660|HP:0001539|ICD9:756.72|DOID:0060327|NCIT:C98997 owl:Class MONDO:0011132 biolink:NamedThing T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. tmpak2llvmy_mondo_relaxed.owl Pignata Guarino syndrome|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|FOXN1 deficiency|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|alopecia immunodeficiency|T-cell immunodeficiency, congenital alopecia and nail dystrophy|alymphoid cystic thymic dysgenesis|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|winged helix deficiency MESH:C536781|ICD10:D82.8|UMLS:C1866426|Orphanet:169095|SCTID:720345008|OMIM:601705|DOID:0060769|GARD:0004358 https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy owl:Class HGNC:13733 biolink:NamedThing CDH23 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016776 biolink:NamedThing frontal fibrosing alopecia Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. tmpak2llvmy_mondo_relaxed.owl FFA SCTID:717055000|Orphanet:254492|GARD:0010886|ICD10:L66.1|UMLS:C4255374 https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia owl:Class MONDO:0001798 biolink:NamedThing hypermobility syndrome tmpak2llvmy_mondo_relaxed.owl benign joint hypermobility ICD10:M35.7|SCTID:85551004|DOID:13781|ICD9:728.5|UMLS:C0152093 owl:Class MONDO:0011419 biolink:NamedThing camera-Marugo-Cohen syndrome tmpak2llvmy_mondo_relaxed.owl camera Marugo Cohen syndrome|obesity, mental retardation, body asymmetry, and muscle weakness|obesity, intellectual disability, body asymmetry, and muscle weakness|camera-Marugo-Cohen syndrome GARD:0008413|OMIM:604257|MESH:C537964|UMLS:C1858661 https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome owl:Class MONDO:0017696 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form tmpak2llvmy_mondo_relaxed.owl glycogen storage disease type IV, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|GSDIV, non progressive hepatic form|glycogenosis type 4, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogenosis type IV, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|GSD type 4, non progressive hepatic form UMLS:CN203595|Orphanet:308638|ICD10:E74.0 owl:Class MONDO:0032566 biolink:NamedThing squalene synthase deficiency tmpak2llvmy_mondo_relaxed.owl SQSD|SQUALENE SYNTHASE DEFICIENCY|Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids OMIM:618156 owl:Class MONDO:0023255 biolink:NamedThing glossopalatine ankylosis micrognathia ear anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0002495 https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies owl:Class HGNC:16997 biolink:NamedThing MLLT11 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:203397 biolink:NamedThing Rotaliacea tmpak2llvmy_mondo_relaxed.owl Rotalioidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011967 biolink:NamedThing heterotopia, periventricular, associated with chromosome 5P anomalies tmpak2llvmy_mondo_relaxed.owl heterotopia, periventricular, associated with chromosome 5P anomalies|periventricular nodular heterotopia 3 MESH:C564291|OMIM:608098|UMLS:C1842562 owl:Class MONDO:0003289 biolink:NamedThing deep leiomyoma A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpak2llvmy_mondo_relaxed.owl deep leiomyoma DOID:5128|NCIT:C6512|UMLS:C1333266 owl:Class MONDO:0009449 biolink:NamedThing ciliary dyskinesia with defective radial spokes tmpak2llvmy_mondo_relaxed.owl cilia with defective radial spokes|ciliary dyskinesia with defective radial spokes|immotile cilia syndrome due to defective radial spokes|immotile cilia syndrome, due to defective radial spokes GARD:0002981|OMIM:242670|SCTID:233664005|UMLS:C0340035|MESH:C536286|ICD9:759.89 owl:Class MONDO:0008400 biolink:NamedThing salivary duct calculi Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. tmpak2llvmy_mondo_relaxed.owl parotid duct calculi|salivary duct calculi|submandibular duct calculi MESH:D012465|OMIM:181010 owl:Class MONDO:0004863 biolink:NamedThing purulent endophthalmitis tmpak2llvmy_mondo_relaxed.owl SCTID:41720003|ICD9:360.00|DOID:9724|ICD10:H44.00|ICD10:H44.0|UMLS:C0259800|ICD9:360.0 owl:Class MONDO:0003435 biolink:NamedThing microcystic adenoma A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. tmpak2llvmy_mondo_relaxed.owl microcystic adenoma|microcystic adenoma (morphologic abnormality) DOID:5403|NCIT:C3685|ICDO:8202/0|UMLS:C0205648 owl:Class MONDO:0054845 biolink:NamedThing developmental and epileptic encephalopathy, 66 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 66|DEE66|EIEE66 OMIM:618067|DOID:0080446|UMLS:CN252658 owl:Class MONDO:0010175 biolink:NamedThing van Bogaert-Hozay syndrome tmpak2llvmy_mondo_relaxed.owl A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|acro-osteolysis-facial dysplasia syndrome|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|Hozay's syndrome|van Bogaert-Hozay syndrome|Hozay’s syndrome OMIM:277150|UMLS:C1848598|GARD:0008415|MESH:C536526 https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome owl:Class MONDO:0017162 biolink:NamedThing imperforate oropharynx-costo vetebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. tmpak2llvmy_mondo_relaxed.owl Seghers syndrome|imperforate oropharynx-costovertebral anomalies syndrome|imperforate oropharynx-costo vetebral anomalies UMLS:CN202584|Orphanet:2759|GARD:0002989 owl:Class MONDO:0003942 biolink:NamedThing eosinophilic variant of chromophobe renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl eosinophilic variant of chromophobe renal cell carcinoma UMLS:C1333405|DOID:6606|NCIT:C27889 owl:Class MONDO:0017885 biolink:NamedThing chromophobe renal cell carcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. tmpak2llvmy_mondo_relaxed.owl ChRCC|chromophobe renal cell carcinoma|CRCC|chromophobe carcinoma of the kidney|kidney chromophobe|chromophobe carcinoma|CHRCC|chromophobe carcinoma of kidney|chromophobe cell carcinoma of kidney|chromophobe renal cell cancer|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of the kidney|chromophobe adenocarcinoma|renal cell carcinoma, chromophobe type|renal cell carcinoma, chromophobe cell EFO:0000335|Orphanet:319303|ICDO:8317/3|SCTID:733471003|ICDO:8270/3|DOID:4471|NCIT:C4146|GARD:0006064|ICD10:C64|ONCOTREE:CHRCC|UMLS:C3887514|UMLS:C1266042 https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma owl:Class HP:0000528 biolink:NamedThing Anophthalmia Absence of the globe or eyeball. tmpak2llvmy_mondo_relaxed.owl Clinical anophthalmia, unilateral/bilateral|No eyeball|Anophthalmia, clinical|Failure of development of eyeball|Missing eyeball|Absence of globes of eyes|Ocular absence|No globe of eye|Missing globe of eye|Absence of eyeballs UMLS:C0003119|SNOMEDCT_US:204099004|Fyler:4864|MSH:D000853|SNOMEDCT_US:7183006 HP:0001485|HP:0007664 human_phenotype owl:Class MONDO:0006903 biolink:NamedThing peroneal nerve paralysis Paralysis of the nerves located in the legs. tmpak2llvmy_mondo_relaxed.owl palsy, peroneal nerve|nerve palsy, peroneal|peroneal nerve palsy MedDRA:10033828|NCIT:C27061|ICD10:G57.3|SCTID:399088004|DOID:6925|EFO:1001102|UMLS:C0270810 owl:Class NCBITaxon:5094 biolink:NamedThing Talaromyces tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017171 biolink:NamedThing mucopolysaccharidosis type 6, rapidly progressing tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis type VI, rapidly progressing|arylsulfatase B deficiency, rapidly progressing|MPS6, rapidly progressing|MPSVI, rapidly progressing UMLS:CN202600|ICD10:E76.2|Orphanet:276212 owl:Class MONDO:0007559 biolink:NamedThing photoparoxysmal response 1 tmpak2llvmy_mondo_relaxed.owl Photoconvulsive reaction|PPR1|epilepsy, photogenic|photoparoxysmal response 1|Ppr|photosensitivity UMLS:C1868677|OMIM:132100 owl:Class MONDO:0000410 biolink:NamedThing funisitis An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. tmpak2llvmy_mondo_relaxed.owl DOID:0050698|ICD9:658.80|SCTID:396343006|UMLS:C1275592|NCIT:C97077 owl:Class MONDO:0014086 biolink:NamedThing osteogenesis imperfecta type 15 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta, type XV|osteogenesis imperfecta caused by mutation in WNT1|OI15|WNT1 osteogenesis imperfecta|osteogenesis imperfecta type XV|osteogenesis imperfecta, type 15|OI, type 15 ICD10:Q78.0|OMIM:615220|DOID:0110347|UMLS:C3808844 owl:Class MONDO:0042961 biolink:NamedThing sacral hemangiomas multiple congenital abnormalities tmpak2llvmy_mondo_relaxed.owl UMLS:C2931443|MESH:C537222|GARD:0000317 owl:Class MONDO:0008462 biolink:NamedThing split lower lip tmpak2llvmy_mondo_relaxed.owl split Lower type lip|split lower lip OMIM:183400 owl:Class MONDO:0008180 biolink:NamedThing congenital velopharyngeal incompetence Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. tmpak2llvmy_mondo_relaxed.owl velopharyngeal insufficiency|velopharyngeal incompetence|palatopharyngeal incompetence ICD10:J39.2|OMIM:167500|UMLS:C0042454|Orphanet:2291|GARD:0005470|MESH:D014681 owl:Class MONDO:0032862 biolink:NamedThing hydrocephalus, congenital communicating, 1 tmpak2llvmy_mondo_relaxed.owl HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1|HYDCC1 OMIM:618667 owl:Class MONDO:0008398 biolink:NamedThing salivary substance, Clostridium botulinum type tmpak2llvmy_mondo_relaxed.owl salivary substance, Clostridium botulinum type UMLS:C1867056|OMIM:180950 owl:Class MONDO:0010614 biolink:NamedThing X-linked congenital generalized hypertrichosis X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. tmpak2llvmy_mondo_relaxed.owl Macias-Flores Garcia-Cruz Rivera syndrome|hCG|hypertrichosis, congenital generalized|Cgh|Macias Flores-Garcia Cruz-Rivera syndrome|HTC2|chromosome Xq27.1 Interchromosomal insertion syndrome|hypertrichosis congenital generalized X-linked|congenital generalized hypertrichosis, Macias-Flores type|chromosome Xq27.1 interchromosomal insertion syndrome MESH:C538388|OMIM:307150|Orphanet:79495|GARD:0002863|ICD10:Q84.2 https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis owl:Class MONDO:0009219 biolink:NamedThing fascial dystrophy, congenital tmpak2llvmy_mondo_relaxed.owl fascial dystrophy, congenital ICD9:709.8|OMIM:228020|MESH:C563219|SCTID:399948007 owl:Class MONDO:0019848 biolink:NamedThing posterior hypospadias Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. tmpak2llvmy_mondo_relaxed.owl perineal, scrotal or penoscrotal hypospadias ICD10:Q54.2|ICD10:Q54.3|Orphanet:95706 owl:Class MONDO:0012765 biolink:NamedThing lymphatic malformation 2 tmpak2llvmy_mondo_relaxed.owl LMPH1B|lymphedema, hereditary, 1B DOID:0070211|UMLS:C2677787|MESH:C567452|OMIM:611944 owl:Class MONDO:0060556 biolink:NamedThing joint laxity, short stature, and myopia tmpak2llvmy_mondo_relaxed.owl JLSM|joint laxity, short stature, and myopia UMLS:C4540020|OMIM:617662|Orphanet:527450 owl:Class MONDO:0008172 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal dominant tmpak2llvmy_mondo_relaxed.owl PDP, autosomal dominant|Pho, autosomal dominant|pachydermoperiostosis, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant|PHOAD OMIM:167100|UMLS:C2674695 owl:Class SO:0000299 biolink:NamedThing specific_recombination_site A location where recombination or occurs during mitosis or meiosis. tmpak2llvmy_mondo_relaxed.owl specific recombination site owl:Class UBERON:0011593 biolink:NamedThing maxillary tooth A tooth that is attached to a maxilla[TAO,modified]. tmpak2llvmy_mondo_relaxed.owl maxillary teeth owl:Class MONDO:0024430 biolink:NamedThing allesthesia A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. tmpak2llvmy_mondo_relaxed.owl Alloesthesias|Allachesthesias|Allesthesias|Dyschirias|dyschiria|false allochiria|Alloesthesia|allochiria|Allachesthesia MESH:D066190 owl:Class MONDO:0006897 biolink:NamedThing periapical granuloma Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. tmpak2llvmy_mondo_relaxed.owl apical granuloma|periapical granuloma UMLS:C0031029|MedDRA:10060985|MESH:D010484|EFO:1001096|DOID:4617|SCTID:81407003 owl:Class MONDO:0020535 biolink:NamedThing house allergic alveolitis House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. tmpak2llvmy_mondo_relaxed.owl SCTID:725415009|Orphanet:99907|ICD10:J67.8|UMLS:C4511048 owl:Class MONDO:0011755 biolink:NamedThing senior-loken syndrome 3 tmpak2llvmy_mondo_relaxed.owl SLSN3|SENIOR-Loken syndrome 3 UMLS:C1846980|MESH:C564637|OMIM:606995 owl:Class HGNC:5438 biolink:NamedThing IFNG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001623 biolink:NamedThing cicatricial lagophthalmos tmpak2llvmy_mondo_relaxed.owl cicatricial lagophthalmos|cicatricial lagophthalmos (disease) cicatricial lagophthalmos (disease) HP:0030004|ICD10:H02.21|DOID:13038|ICD9:374.23|UMLS:C0155199 owl:Class MONDO:0001596 biolink:NamedThing hypochondriasis A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. tmpak2llvmy_mondo_relaxed.owl hypochondriacal neurosis|hypochondriacal disorder|hypochondria ICD10:F45.21|MESH:D006998|ICD9:300.7|DOID:12883|ICD10:F45.2|SCTID:18193002 owl:Class MONDO:0017097 biolink:NamedThing isolated focal cortical dysplasia type Ib tmpak2llvmy_mondo_relaxed.owl FCD type IB ICD10:Q04.8|Orphanet:268980|UMLS:CN202454 owl:Class MONDO:0030905 biolink:NamedThing deafness, autosomal recessive 117 tmpak2llvmy_mondo_relaxed.owl DFNB117|deafness, autosomal recessive 117 OMIM:619174 owl:Class MONDO:0015786 biolink:NamedThing Prader-Willi syndrome due to imprinting mutation tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.1|Orphanet:177910|UMLS:CN200368 owl:Class MONDO:0023084 biolink:NamedThing epiphyseal dysplasia dysmorphism camptodactyly tmpak2llvmy_mondo_relaxed.owl GARD:0002177 https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly owl:Class MONDO:0001971 biolink:NamedThing farmer's lung disease Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. tmpak2llvmy_mondo_relaxed.owl farmer lung|Farmers lung|farmer's lung UMLS:C0015634|GARD:0006427|ICD9:495.0|NCIT:C34605|ICD10:J67.0|SCTID:18690003|DOID:14453|Orphanet:99906|MedDRA:10016221 https://rarediseases.info.nih.gov/diseases/6427/farmers-lung owl:Class MONDO:0018143 biolink:NamedThing pyruvate carboxylase deficiency, benign type Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. tmpak2llvmy_mondo_relaxed.owl pyruvate carboxylase deficiency type C UMLS:CN204540|Orphanet:353320|ICD10:E74.4 owl:Class MONDO:0011392 biolink:NamedThing autosomal recessive nonsyndromic deafness 20 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 20|DFNB20|autosomal recessive deafness 20|deafness, autosomal recessive 20 UMLS:C1858840|ICD10:H90.3|OMIM:604060|MESH:C565828|DOID:0110478 owl:Class MONDO:0004224 biolink:NamedThing chronic metabolic polyneuropathy tmpak2llvmy_mondo_relaxed.owl chronic metabolic polyneuropathy DOID:7441|UMLS:C1333042|NCIT:C35602 owl:Class MONDO:0020349 biolink:NamedThing acute motor axonal neuropathy Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). tmpak2llvmy_mondo_relaxed.owl AMAN|acute pure motor Guillain-Barré syndrome|acute pure motor GBS|acute pure motor Guillain-Barre syndrome UMLS:C3890941|UMLS:CN207196|SCTID:715770009|Orphanet:98918|ICD10:G61.0|NCIT:C116929 owl:Class MONDO:0030856 biolink:NamedThing developmental and epileptic encephalopathy 89 tmpak2llvmy_mondo_relaxed.owl developmental and epileptic encephalopathy 89|DEE89 OMIM:619124 owl:Class CHEBI:5386 biolink:NamedThing globin tmpak2llvmy_mondo_relaxed.owl Globin|globins|pentacoordinate globin owl:Class HP:0008398 biolink:NamedThing Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. tmpak2llvmy_mondo_relaxed.owl Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of pinky finger|Underdeveloped fifth fingernail UMLS:C4024682 HP:0200103 human_phenotype owl:Class MONDO:0033202 biolink:NamedThing deafness, autosomal recessive 109 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 109|DFNB109 OMIM:618013|DOID:0111639|UMLS:CN248519 owl:Class HGNC:6109 biolink:NamedThing IPW tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009083 biolink:NamedThing conductive deafness-malformed external ear syndrome tmpak2llvmy_mondo_relaxed.owl conductive hearing loss-malformed external ear syndrome|Ear deformity and conductive hearing loss|conductive deafness with malformed external ear|Mengel-Konigsmark syndrome|deafness, conductive, with malformed external EAR|conductive deafness - malformed external ear|conductive hearing loss and malformed low-set ears|familial congenital moderate neural hearing loss GARD:0001460|Orphanet:3216|OMIM:221300|MESH:C565644|UMLS:C1857341 owl:Class MONDO:0007222 biolink:NamedThing brachydactyly type D A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. tmpak2llvmy_mondo_relaxed.owl BDD|stub thumb|brachydactyly, type D OMIM:113200|MESH:C562420|DOID:0110971 Editor note: OMIM xrefs Orphanet ID that does not appear to exist owl:Class MONDO:0006659 biolink:NamedThing arteriosclerosis obliterans Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. tmpak2llvmy_mondo_relaxed.owl arteriosclerosis obliterans (disorder) [ambiguous] MedDRA:10065418|ICD9:440.8|EFO:1000820|UMLS:C0003851|SCTID:361133006|DOID:5160|MESH:D001162 owl:Class HGNC:4286 biolink:NamedThing GJB4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016886 biolink:NamedThing partial deletion of the short arm of chromosome 4 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome 4p|partial deletion of the short arm of chromosome type 4|partial monosomy of chromosome 4p|partial monosomy of the short arm of chromosome 4 2021-01-01 ICD10:Q93.3|Orphanet:261884 Reason: duplicate. This will be merged with MONDO:0022762 chromosome 4 short arm deletion owl:Class MONDO:0007439 biolink:NamedThing deoxyribose-5-phosphate aldolase deficiency tmpak2llvmy_mondo_relaxed.owl deoxyribose-5-phosphate aldolase deficiency UMLS:C1852200|MESH:C565112|OMIM:125460 owl:Class HGNC:3694 biolink:NamedThing FGG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010573 biolink:NamedThing cutis verticis gyrata, thyroid aplasia, and intellectual disability tmpak2llvmy_mondo_relaxed.owl cutis verticis gyrata, thyroid aplasia, and intellectual disability|Akesson syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome MESH:C535610|OMIM:304200|UMLS:CN237776|GARD:0000578|Orphanet:79482 owl:Class MONDO:0004533 biolink:NamedThing perineural angioma A hemangioma arising from perineural tissues. tmpak2llvmy_mondo_relaxed.owl perineural hemangioma NCIT:C6526|DOID:8331|UMLS:C1335382 owl:Class HGNC:17870 biolink:NamedThing INVS tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7516 biolink:NamedThing MUC5B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004520 biolink:NamedThing intratubular embryonal carcinoma Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) tmpak2llvmy_mondo_relaxed.owl stage 0 testicular embryonal carcinoma aJCC v6 and v7|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6|stage 0 testicular embryonal carcinoma aJCC v7 DOID:8275|NCIT:C7325|UMLS:C1336096 owl:Class ENVO:03000008 biolink:NamedThing compaction process A physical process during which atoms, molecules, or other consituents of a material entity are forced closer together. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011356 biolink:NamedThing exostosis, Dupuytren subungual tmpak2llvmy_mondo_relaxed.owl subungual exostoses|exostosis, Dupuytren subungual|Dupuytren subungual exostosis GARD:0008280|UMLS:C1863622|OMIM:603656|MESH:C535723 https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis owl:Class MONDO:0019085 biolink:NamedThing vernal keratoconjunctivitis Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. tmpak2llvmy_mondo_relaxed.owl VKC|Spring catarrh ICD10:H16.2|GARD:0007854|UMLS:C0022577|Orphanet:70476|SCTID:317349009 https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis owl:Class MONDO:0017788 biolink:NamedThing contractures - webbed neck - micrognathia - hypoplastic nipples syndrome tmpak2llvmy_mondo_relaxed.owl Dinno syndrome Orphanet:314002|UMLS:CN203738 owl:Class MONDO:0013964 biolink:NamedThing Diamond-Blackfan anemia 11 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. tmpak2llvmy_mondo_relaxed.owl DBA11|Diamond-Blackfan anemia 11|Diamond-Blackfan anemia caused by mutation in RPL26|Diamond-Blackfan Anemia type 11|RPL26 Diamond-Blackfan anemia UMLS:C3554042|OMIM:614900 owl:Class NCBITaxon:54285 biolink:NamedThing Oestrinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010070 biolink:NamedThing brachyolmia type 1, Hobaek type tmpak2llvmy_mondo_relaxed.owl brachyolmia type 1, Hobaek type|spondylodysplasia with Pure brachyolmia|brachyolmia, recessive type of Hobaek|BCYM1A UMLS:C1849055|MESH:C537099|OMIM:271530|Orphanet:93301 owl:Class MONDO:0007593 biolink:NamedThing facial spasm tmpak2llvmy_mondo_relaxed.owl facial spasm OMIM:134300 owl:Class MONDO:0003040 biolink:NamedThing retrograde amnesia The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. tmpak2llvmy_mondo_relaxed.owl ICD10:R41.2|DOID:4543|MESH:D000648 owl:Class MONDO:0009568 biolink:NamedThing mast syndrome Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. tmpak2llvmy_mondo_relaxed.owl SPG21|autosomal recessive spastic paraplegia type 21|Mast syndrome|autosomal recessive spastic paraplegia 21|spastic paraplegia 21, autosomal recessive|hereditary spastic paraplegia 21|mast syndrome OMIM:248900|ICD10:G11.4|SCTID:764734003|MESH:C565409|Orphanet:101001|DOID:0060245|UMLS:C1855346 owl:Class MONDO:0009298 biolink:NamedThing GOMBO syndrome tmpak2llvmy_mondo_relaxed.owl GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia UMLS:C1856274|GARD:0002537|MESH:C537284|OMIM:233270 owl:Class MONDO:0010957 biolink:NamedThing agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations tmpak2llvmy_mondo_relaxed.owl KENNERKNECHT syndrome|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations|agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|Kennerknecht syndrome UMLS:C1833162|OMIM:600908 owl:Class CHEBI:33719 biolink:NamedThing alpha-amino-acid cation tmpak2llvmy_mondo_relaxed.owl alpha-amino acid cations|alpha-amino-acid cations|alpha-amino-acid cation owl:Class MONDO:0006894 biolink:NamedThing patellofemoral pain syndrome A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. tmpak2llvmy_mondo_relaxed.owl MESH:D046788|UMLS:C0877149|DOID:14284|EFO:1001092|MedDRA:10049143|SCTID:430725003 owl:Class UBERON:0035548 biolink:NamedThing colic artery tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011770 biolink:NamedThing aortic aneurysm, familial thoracic 2 tmpak2llvmy_mondo_relaxed.owl FAA2|aortic aneurysm, familial thoracic 2|AAT2 OMIM:607087|MESH:C564627|UMLS:C1846837 owl:Class MONDO:0022555 biolink:NamedThing Beardwell syndrome tmpak2llvmy_mondo_relaxed.owl familial ankylosing vertebral hyperostosis with tylosis UMLS:C2931581|MESH:C537665 owl:Class GO:0016469 biolink:NamedThing proton-transporting two-sector ATPase complex A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. tmpak2llvmy_mondo_relaxed.owl hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase owl:Class HP:0000360 biolink:NamedThing Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. tmpak2llvmy_mondo_relaxed.owl Ringing in the ears|Ringing in ears UMLS:C0040264|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001|MSH:D014012 human_phenotype owl:Class MONDO:0016394 biolink:NamedThing sporadic infantile bilateral striatal necrosis Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpak2llvmy_mondo_relaxed.owl acute bilateral striatal necrosis|sporadic infantile striatonigral necrosis|ABSN|sporadic IBSN|sporadic infantile striatonigral degeneration Orphanet:225147|ICD10:G23.2 owl:Class MONDO:0005125 biolink:NamedThing borderline leprosy A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. tmpak2llvmy_mondo_relaxed.owl Midborderline leprosy|borderline leprosy [group B]|borderline or dimorphous leprosy ICD9:030.3|ICD10:A30.3|MESH:D015439|EFO:0001055|DOID:1023|UMLS:C3251797|UMLS:C0023346|SCTID:400154003 owl:Class MONDO:0001226 biolink:NamedThing acute contagious conjunctivitis Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. tmpak2llvmy_mondo_relaxed.owl pinkeye|Contagious opthalmia|conjunctivitis infective SCTID:399219006|NCIT:C35704|ICD9:041.89|UMLS:C1313983|DOID:11213 owl:Class MONDO:0014637 biolink:NamedThing DOCK2 deficiency tmpak2llvmy_mondo_relaxed.owl immunodeficiency 40|IMD40|immunodeficiency type 40 Orphanet:447737|GARD:0012653|UMLS:C4225328|OMIM:616433|ICD10:D81.8 https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency owl:Class MONDO:0019615 biolink:NamedThing pituitary dermoid and epidermoid cysts tmpak2llvmy_mondo_relaxed.owl Orphanet:91351 owl:Class MONDO:0010720 biolink:NamedThing partial androgen insensitivity syndrome Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. tmpak2llvmy_mondo_relaxed.owl androgen insensitivity, partial, with or without breast cancer|androgen insensitivity syndrome, partial|incomplete male pseudohermaphroditism|pais|partial androgen resistance syndrome|pseudohermaphroditism, incomplete male, type I|Reifenstein syndrome|PAIS|type I familial incomplete male pseudohermaphroditism|Reifenstein syndrome, partial|androgen insensitivity, partial|androgen resistance syndrome, partial|familial incomplete Male pseudohermaphroditism, type 1 SCTID:122811000119101|OMIM:312100|OMIM:312300|GTR:AN0098649|GARD:0005692|ICD10:E34.5|GTR:AN0098655|GTR:AN0098654|MESH:C538435|NCIT:C120192|Orphanet:90797|ICD10:E34.52|GTR:AN0098650|GTR:AN0098652|UMLS:CN035075|OMIM:307300|GTR:AN0098651 https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome owl:Class MONDO:0023179 biolink:NamedThing fragile X syndrome type 2 tmpak2llvmy_mondo_relaxed.owl GARD:0002367 https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2 owl:Class HGNC:13886 biolink:NamedThing ABCG5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007696 biolink:NamedThing Emery-Nelson syndrome tmpak2llvmy_mondo_relaxed.owl hand and foot deformity with flat facies|hand and foot deformity-flat facies syndrome|familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity - flat facies Orphanet:1927|ICD10:Q87.8|MESH:C535626|OMIM:139750|GARD:0002593|UMLS:C1841693 owl:Class GO:1901363 biolink:NamedThing heterocyclic compound binding Binding to heterocyclic compound. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003638 biolink:NamedThing lung meningioma A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. tmpak2llvmy_mondo_relaxed.owl lung primary meningioma|pulmonary meningioma|meningioma (disease) of lung|meningioma of the lung|lung meningioma|lung meningioma (disease)|primary pulmonary meningioma|meningioma of lung UMLS:C1334450|DOID:5764|NCIT:C5668 owl:Class GO:0070324 biolink:NamedThing thyroid hormone binding Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroxine binding|triiodothyronine binding owl:Class MONDO:0008532 biolink:NamedThing teeth present at birth tmpak2llvmy_mondo_relaxed.owl teeth present AT birth|teeth present at birth|Natal teeth|teeth present at birth (disease) teeth present at birth (disease) HP:0000695|OMIM:187050|SCTID:21995002 owl:Class MONDO:0002630 biolink:NamedThing small cell osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable. tmpak2llvmy_mondo_relaxed.owl SCOS|round cell osteosarcoma|small cell osteosarcoma UMLS:C0279622|DOID:3377|NCIT:C4023|ONCOTREE:SCOS|ICDO:9185/3 owl:Class HGNC:3430 biolink:NamedThing ERBB2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004447 biolink:NamedThing proximal epiphysis of phalanx A proximal epiphysis that is part of a phalanx [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0042322 biolink:NamedThing negative regulation of circadian sleep/wake cycle, REM sleep Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. tmpak2llvmy_mondo_relaxed.owl down regulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|inhibition of circadian sleep/wake cycle, REM sleep owl:Class MONDO:0029142 biolink:NamedThing deafness, autosomal recessive 111 tmpak2llvmy_mondo_relaxed.owl DFNB111|deafness, autosomal recessive 111 OMIM:618145|DOID:0111640 owl:Class MONDO:0010214 biolink:NamedThing xeroderma pigmentosum variant type Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. tmpak2llvmy_mondo_relaxed.owl xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum, variant type|XPV|xeroderma pigmentosum variant|xeroderma pigmentosum variant type|photosensitivity with defective DNA synthesis NCIT:C141367|ICD10:Q82.1|OMIM:278750|Orphanet:90342|GARD:0005630|DOID:0110847|MESH:C536766|UMLS:C1848410 https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type owl:Class HGNC:21176 biolink:NamedThing RMND1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011563 biolink:NamedThing fibromatosis, gingival, 2 tmpak2llvmy_mondo_relaxed.owl hereditary gingival fibromatosis, 2|HGF2|GINGF2|GGF2|fibromatosis, gingival, 2|gingival fibromatosis, 2|fibromatosis gingival, hereditary, 2|fibromatosis, gingival, hereditary, 2 MESH:C565323|GARD:0002474|OMIM:605544 owl:Class MONDO:0100079 biolink:NamedThing developmental and epileptic encephalopathy, 6 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. tmpak2llvmy_mondo_relaxed.owl DEE6|developmental and epileptic encephalopathy, 6|epileptic encephalopathy, early infantile, 6|EIEE6 OMIM:607208 EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:25507 biolink:NamedThing VAC14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019764 biolink:NamedThing laryngotracheoesophageal cleft type 4 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. tmpak2llvmy_mondo_relaxed.owl LTEC4|LTEC IV|laryngo-tracheo-esophageal cleft type 4 Orphanet:93941|ICD10:Q32.1|UMLS:CN206699 owl:Class MONDO:0009733 biolink:NamedThing nephrotic syndrome, type 4 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. tmpak2llvmy_mondo_relaxed.owl DMS|familial mesangial sclerosis|NPHS4|nephrotic syndrome, type 4|diffuse isolated mesangial sclerosis|nephrotic syndrome caused by mutation in WT1|nephrotic syndrome, early onset with diffuse mesangial sclerosis|WT1 nephrotic syndrome|congenital nephrotic syndrome - diffuse mesangial sclerosis|mesangial sclerosis, diffuse|isolated diffuse mesangial sclerosis|diffuse mesangial sclerosis DOID:0080383|OMIM:256370|GARD:0003547|NCIT:C121198 owl:Class MONDO:0001441 biolink:NamedThing pica disease An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. tmpak2llvmy_mondo_relaxed.owl Pica eating disorder|Pica DOID:12128|ICD9:307.52|SCTID:14077003|NCIT:C92566|MESH:D010842 owl:Class MONDO:0011687 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. tmpak2llvmy_mondo_relaxed.owl HSPB1 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot-Marie-Tooth neuropathy, type 2F|Charcot-Marie-Tooth disease, neuronal, type 2F|Charcot-Marie-Tooth disease type 2F|Charcot Marie Tooth disease type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|Charcot-Marie-Tooth neuropathy type 2F|CMT2F|CMT 2F UMLS:C4304675|OMIM:606595|DOID:0110163|GARD:0009194|MESH:C535413|SCTID:719510006|UMLS:C1847823|ICD10:G60.0|Orphanet:99940 https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f owl:Class NCBITaxon:6681 biolink:NamedThing Malacostraca tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:28648 biolink:NamedThing DIS3L2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010404 biolink:NamedThing X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, X-linked 5|X-linked spinocerebellar ataxia type 5|SCAX5 ICD10:G11.0|OMIM:300703|MESH:C567478|UMLS:C2678048|SCTID:766818009|Orphanet:314978 owl:Class MONDO:0016530 biolink:NamedThing laryngocele A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. tmpak2llvmy_mondo_relaxed.owl NCIT:C97062|Orphanet:2372|MedDRA:10023885|MESH:D059608|ICD10:Q31.3|UMLS:C0265761|SCTID:51523009|GARD:0003191|ICD9:748.3 https://rarediseases.info.nih.gov/diseases/3191/laryngocele owl:Class MONDO:0014960 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIMPS:617186|UMLS:C4310675 owl:Class MONDO:0010562 biolink:NamedThing colonic atresia Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. tmpak2llvmy_mondo_relaxed.owl colonic atresia (disease)|colonic atresia|atresia of colon|colon atresia|congenital atresia of colon colonic atresia (disease) ICD10:Q42.9|Orphanet:1198|MESH:C562562|OMIM:303650|HP:0010448|GARD:0001446|NCIT:C101024|SCTID:37054000 owl:Class CHEBI:58953 biolink:NamedThing saturated fatty acid anion Any fatty acid anion in which there is no C-C unsaturation. tmpak2llvmy_mondo_relaxed.owl saturated fatty acid anions owl:Class MONDO:0012182 biolink:NamedThing skeletal dysplasia, rhizomelic, with retinitis pigmentosa tmpak2llvmy_mondo_relaxed.owl skeletal dysplasia, rhizomelic, with retinitis pigmentosa OMIM:609047|UMLS:C1836898|MESH:C563806 owl:Class MONDO:0003509 biolink:NamedThing pineal region choriocarcinoma A choriocarcinoma (disease) that involves the pineal body. tmpak2llvmy_mondo_relaxed.owl choriocarcinoma of pineal region|choriocarcinoma of the pineal area|choriocarcinoma of the pineal region|pineal area choriocarcinoma|choriocarcinoma of pineal area|pineal choriocarcinoma UMLS:C1335414|NCIT:C6759|DOID:5553 owl:Class MONDO:0033092 biolink:NamedThing ichthyosis, congenital, autosomal recessive 13 tmpak2llvmy_mondo_relaxed.owl autosomal recessive congenital ichthyosis 13|ARCI13|ichthyosis, congenital, autosomal recessive 13 OMIM:617574|DOID:0080257|UMLS:CN321864 owl:Class MONDO:0022509 biolink:NamedThing asternia Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. tmpak2llvmy_mondo_relaxed.owl absent sternum GARD:0009221 https://rarediseases.info.nih.gov/diseases/9221/asternia owl:Class UBERON:0016896 biolink:NamedThing periosteum of long bone A periosteum that is part of a long bone. tmpak2llvmy_mondo_relaxed.owl long bone periosteum owl:Class MONDO:0044657 biolink:NamedThing MME-related autosomal dominant Charcot Marie Tooth disease type 2 tmpak2llvmy_mondo_relaxed.owl MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 Orphanet:497757 owl:Class GO:0002204 biolink:NamedThing somatic recombination of immunoglobulin genes involved in immune response The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. tmpak2llvmy_mondo_relaxed.owl somatic recombination of antibody genes during immune response|somatic recombination of immunoglobulin genes during immune response owl:Class HP:0000625 biolink:NamedThing Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. tmpak2llvmy_mondo_relaxed.owl Notched eyelid|Eyelid coloboma|Cleft eyelid|Full thickness defect of the eyelid UMLS:C0521573|SNOMEDCT_US:95202004 The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. human_phenotype owl:Class HP:0001654 biolink:NamedThing Abnormal heart valve morphology Any structural abnormality of a cardiac valve. tmpak2llvmy_mondo_relaxed.owl Abnormality of the heart valves|Valvular abnormality|Valvular heart disease UMLS:C0018824|UMLS:C0241654|MSH:D006349|SNOMEDCT_US:368009 HP:0001703 human_phenotype owl:Class MONDO:0005758 biolink:NamedThing eunuchism The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. tmpak2llvmy_mondo_relaxed.owl hypergonadotropic hypogonadism (Male)|Male hypergonadotropic hypogonadism|Primary testicular failure SCTID:267403002|EFO:0007266|UMLS:C0238117|MESH:D005058|NCIT:C131195|DOID:5003|ICD9:257.2 owl:Class MONDO:0020362 biolink:NamedThing inverse Marcus-Gunn phenomenon Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:98951|UMLS:CN207213|ICD10:Q07.8 owl:Class MONDO:0007946 biolink:NamedThing jaw-winking syndrome Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. tmpak2llvmy_mondo_relaxed.owl Marcus-Gunn syndrome|abnormal innervation syndrome of eyelid|Maxillopalpebral synkinesis|Marcus Gunn syndrome|mandibulo-palpebral synkinesis-ptosis syndrome|jaw-blinking|Marcus-Gunn phenomenon|jaw-winking|Marcus Gunn phenomenon|pterygoid-levator synkinesis|jaw-winking syndrome|familial Marcus Gunn phenomenon (subtype) MESH:C535908|ICD9:374.43|SCTID:5127009|ICD9:742.8|GARD:0006972|Orphanet:91412|MedDRA:10064583|OMIM:154600|UMLS:C0266521|ICD10:Q07.8|DOID:560 owl:Class MONDO:0032572 biolink:NamedThing cardiac, facial, and digital anomalies with developmental delay tmpak2llvmy_mondo_relaxed.owl CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY|CAFDADD OMIM:618164 owl:Class MONDO:0012304 biolink:NamedThing photoparoxysmal response 2 tmpak2llvmy_mondo_relaxed.owl photoparoxysmal response with or without idiopathic generalized epilepsy|PPR2|photoparoxysmal response 2 UMLS:C1835967|OMIM:609572 owl:Class MONDO:0006079 biolink:NamedThing ameloblastic carcinoma A rare, cytologically malignant ameloblastoma that may metastasize. tmpak2llvmy_mondo_relaxed.owl ameloblastic carcinoma|odontoma, ameloblastic, malignant EFO:1000078|UMLS:C1314678|Orphanet:314422|ICD10:C41.1|NCIT:C7492|GARD:0011855 https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma owl:Class OBO:CHR_9606-chr10p biolink:NamedThing chr10p (Human) tmpak2llvmy_mondo_relaxed.owl 39800000 0 hg38 owl:Class HGNC:8819 biolink:NamedThing PDXK tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9141 biolink:NamedThing PMVK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008691 biolink:NamedThing zinc, elevated plasma tmpak2llvmy_mondo_relaxed.owl albumin binding of zinc, elevated|hyperzincemia and hypercalprotectinemia|hyperzincemia, familial Dysalbuminemic|zinc, elevated plasma OMIM:194470 owl:Class ENVO:01000041 biolink:NamedThing neritic sea surface microlayer biome The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001288 biolink:NamedThing endometriosis of rectovaginal septum and vagina Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina. tmpak2llvmy_mondo_relaxed.owl vaginal endometriosis ICD10:N80.4|UMLS:C0156346|ICD9:617.4|DOID:11431|SCTID:198253003|NCIT:C128064 owl:Class MONDO:0016666 biolink:NamedThing unexplained long-lasting fever/inflammatory syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN201905|Orphanet:251332 https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0700088 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. tmpak2llvmy_mondo_relaxed.owl DYT-MR-1|Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia|Paroxystic non-kinesigenic choreoathetosis GARD:0008722|Orphanet:98810 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0020476 biolink:NamedThing mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. tmpak2llvmy_mondo_relaxed.owl MTLE-HS Orphanet:99701 owl:Class MONDO:0004365 biolink:NamedThing necrotic uveal melanoma A uveal melanoma characterized by the presence of tumor cell necrosis. tmpak2llvmy_mondo_relaxed.owl DOID:7808|NCIT:C7990|UMLS:C1334931 owl:Class HGNC:20389 biolink:NamedThing RETN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100107 biolink:NamedThing non-neonatal early infantile epileptic encephalopathy Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012619 biolink:NamedThing intellectual disability, autosomal recessive 11 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 11|intellectual disability, autosomal recessive 11|MRT11 UMLS:C1970193|MESH:C567012|OMIM:611097 owl:Class ENVO:02000140 biolink:NamedThing fluid environmental material A liquid or a gas. tmpak2llvmy_mondo_relaxed.owl fluid owl:Class MONDO:0010319 biolink:NamedThing syndromic X-linked intellectual disability Hedera type X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic, Hedera type|intellectual disability, X-linked, with epilepsy|mental retardation, X-linked, syndromic, Hedera type|X-linked intellectual disability, Hedera type|X-linked intellectual disability with epilepsy|MRXE|X-linked mental retardation with epilepsy|MRXSH|mental retardation, X-linked, with epilepsy UMLS:C1845543|OMIM:300423|DOID:0060806|Orphanet:93952|MESH:C564516 owl:Class ENVO:03000015 biolink:NamedThing geographic basin A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016651 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpak2llvmy_mondo_relaxed.owl oxidoreductase activity, acting on NADH or NADPH, other acceptor|NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH owl:Class MONDO:0012270 biolink:NamedThing Tukel syndrome tmpak2llvmy_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, with ulnar hand anomalies|fibrosis of extraocular muscles, congenital, 4|Cfeom-U|congenital extraocular muscle fibrosis with ulnar hand anomalies|Tukel syndrome GARD:0009814|UMLS:C1836217|OMIM:609428 owl:Class HGNC:68 biolink:NamedThing ABCD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009512 biolink:NamedThing lethal Larsen-like syndrome Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out. tmpak2llvmy_mondo_relaxed.owl Larsen-like syndrome, lethal type|Larsen-like multiple joint dislocation syndrome OMIM:245650|UMLS:C4304741|UMLS:C1855535|MESH:C537872|GARD:0003181|SCTID:719409004|Orphanet:2371|ICD10:Q74.8 owl:Class MONDO:0001837 biolink:NamedThing acute gonococcal salpingitis Acute form of gonococcal salpingitis. tmpak2llvmy_mondo_relaxed.owl gonococcal salpingitis, specified as acute|gonococcal salpingitis, acute UMLS:C0275654|ICD9:098.17|DOID:13942|SCTID:45377007 owl:Class MONDO:0018918 biolink:NamedThing carcinoma of gallbladder and extrahepatic biliary tract Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. tmpak2llvmy_mondo_relaxed.owl carcinoma of gallbladder and EBT Orphanet:56044|MedDRA:10007426|UMLS:CN205299 owl:Class GO:0060375 biolink:NamedThing regulation of mast cell differentiation Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006118 biolink:NamedThing breast fibrosis Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. tmpak2llvmy_mondo_relaxed.owl fibrosis of breast|fibrosclerosis of the breast|breast fibrosclerosis|fibrosis of the breast|fibrosclerosis of breast|breast fibrosis ICD9:610.3|NCIT:C3660|DOID:10353|SCTID:29070004|EFO:1000145|UMLS:C0156318|ICD10:N60.3 owl:Class MONDO:0040923 biolink:NamedThing late latent syphilis Latent syphilis when infection was acquired more than twelve months previously. tmpak2llvmy_mondo_relaxed.owl late latent syphilis NCIT:C128371|SCTID:186903006|UMLS:C1260915 owl:Class MONDO:0008635 biolink:NamedThing uterine anomalies tmpak2llvmy_mondo_relaxed.owl uterine anomalies OMIM:192000|MESH:C562565 owl:Class MONDO:0011617 biolink:NamedThing arthropathy, erosive tmpak2llvmy_mondo_relaxed.owl arthropathy, erosive UMLS:C1853829|OMIM:605935|MESH:C565273 owl:Class MONDO:0023200 biolink:NamedThing Fryns Fabry Remans syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002407 https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome owl:Class NCBITaxon:69773 biolink:NamedThing Penicillium glabrum tmpak2llvmy_mondo_relaxed.owl Citromyces glaber|Citromyces glaber Wehmer, 1911|Penicillium frequentans GC_ID:1 NCBITaxon:1195892 ncbi_taxonomy owl:Class MONDO:0023657 biolink:NamedThing intellectual developmental disorder, autosomal dominant 65 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 65|MRD65 OMIM:619320 owl:Class ECTO:0500025 biolink:NamedThing exposure to manufactured product A exposure event involving the interaction of an exposure receptor to manufactured product. tmpak2llvmy_mondo_relaxed.owl manufactured product exposure owl:Class MONDO:0035122 biolink:NamedThing GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder tmpak2llvmy_mondo_relaxed.owl Orphanet:589547 owl:Class HGNC:9350 biolink:NamedThing PRDM6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008625 biolink:NamedThing urate-binding globulin, decrease 1N tmpak2llvmy_mondo_relaxed.owl urate-binding globulin, decrease type 1N|urate-binding globulin, decrease IN MESH:C566013|OMIM:191530|UMLS:C1860587 owl:Class MONDO:0010994 biolink:NamedThing micromelic dwarfism, Fryns type tmpak2llvmy_mondo_relaxed.owl micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|SEMD, micromelic|spondyloepimetaphyseal dysplasia, micromelic|spondyloepimetaphyseal dysplasia micromelic|dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects SCTID:715479009|UMLS:C1832800|OMIM:601096|GARD:0003642|MESH:C537556|Orphanet:2641|ICD10:Q77.8 owl:Class MONDO:0008659 biolink:NamedThing transcobalamin I deficiency tmpak2llvmy_mondo_relaxed.owl Tcn1 deficiency|transcobalamin 1 deficiency with lactoferrin deficiency|cobalamin R Binder Protein deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency|transcobalamin 1 deficiency|transcobalamin-1 deficiency|Haptocorrin deficiency|TCI deficiency|R Binder deficiency with lactoferrin deficiency|transcobalamin I deficiency SCTID:237933007|UMLS:C0342700|Orphanet:2967|MESH:C562798|GARD:0005239|ICD10:E53.8|OMIM:193090 https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency owl:Class GO:0009168 biolink:NamedThing purine ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate formation|purine ribonucleoside monophosphate anabolism|purine ribonucleoside monophosphate biosynthesis owl:Class MONDO:0024661 biolink:NamedThing tubulovillous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. tmpak2llvmy_mondo_relaxed.owl tubulovillous adenoma ICDO:8263/0|NCIT:C4143|UMLS:C0334307 owl:Class MONDO:0015290 biolink:NamedThing neurotrophic keratopathy Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. tmpak2llvmy_mondo_relaxed.owl neurotrophic keratitis ICD10:H16.2|Orphanet:137596|UMLS:C0339296|SCTID:128080005|MedDRA:10069732 owl:Class MONDO:0017825 biolink:NamedThing silent pituitary adenoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN203795|Orphanet:314786|ICD10:D35.2 owl:Class MONDO:0004775 biolink:NamedThing lens-induced iridocyclitis tmpak2llvmy_mondo_relaxed.owl lens-induced iridocyclitis ICD9:364.23|ICD10:H20.2|SCTID:70461003|UMLS:C0339320|DOID:9388 owl:Class MONDO:0005695 biolink:NamedThing central nervous system AIDS arteritis Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. tmpak2llvmy_mondo_relaxed.owl HIV 1 associated CNS vasculitis|HIV-1-associated CNS Vasculitides|CNS vasculitis, HIV associated|HIV-associated CNS Vasculitides|CNS Vasculitides, HIV-associated|vasculitis of the central nervous system, HIV associated|cerebral aneurysmal arteriopathy, AIDS-associated|Vasculitides, HIV-1-associated CNS|vasculitis, HIV-associated CNS|HIV-1-associated CNS vasculitis|cerebral aneurysmal arteriopathy, AIDS associated|CNS vasculitis, HIV-1-associated|HIV-associated vasculitis of the central nervous system|HIV-associated CNS vasculitis|vasculitis, HIV-1-associated CNS|CNS vasculitis, HIV-associated|vasculitis of the central nervous system, HIV-associated|HIV associated vasculitis of the central nervous system|Vasculitides, HIV-associated CNS|CNS Vasculitides, HIV-1-associated|AIDS-associated cerebral aneurysmal arteriopathy|AIDS associated cerebral aneurysmal arteriopathy|central nervous system AIDS arteritis MESH:D020943|UMLS:C0752329|UMLS:C0752330|EFO:0007198|UMLS:C0752331 owl:Class MONDO:0014762 biolink:NamedThing heterotaxy, visceral, 7, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. tmpak2llvmy_mondo_relaxed.owl MMP21 visceral heterotaxy|heterotaxy, visceral, 7, autosomal|heterotaxy, visceral, 7, autosomal; HTX7|visceral heterotaxy caused by mutation in MMP21|HTX7 OMIM:616749|UMLS:C4225217 owl:Class MONDO:0016499 biolink:NamedThing acute pandysautonomia Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. tmpak2llvmy_mondo_relaxed.owl acute panautonomic Guillain-BarrC) syndrome|acute panautonomic neuropathy|acute panautonomic GBS|acute panautonomic Guillain-Barré syndrome ICD10:G61.0|Orphanet:231457|UMLS:C2315246|SCTID:430042004 owl:Class HP:0000301 biolink:NamedThing Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpak2llvmy_mondo_relaxed.owl Abnormality of facial muscles|Facial muscle issue UMLS:C4025865 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. human_phenotype owl:Class MONDO:0017728 biolink:NamedThing Tay-Sachs disease, B1 variant tmpak2llvmy_mondo_relaxed.owl GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant ICD10:E75.0|SCTID:238024005|Orphanet:309239 owl:Class MONDO:0018808 biolink:NamedThing Caroli syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN776859|Orphanet:480520 owl:Class MONDO:0010813 biolink:NamedThing pancreatic beta cell agenesis with neonatal diabetes mellitus tmpak2llvmy_mondo_relaxed.owl pancreatic beta cell agenesis with neonatal diabetes mellitus MESH:C538111|UMLS:C1838655|Orphanet:28455|OMIM:600089 owl:Class MONDO:0015392 biolink:NamedThing nasal glial heterotopia Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. tmpak2llvmy_mondo_relaxed.owl nasal glioma SCTID:5645008|UMLS:C0266490|Orphanet:141112|ICD9:748.1 owl:Class CL:0002120 biolink:NamedThing CD24-positive CD38-negative IgG-negative class switched memory B cell An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0001510 biolink:NamedThing lateral displacement of eye tmpak2llvmy_mondo_relaxed.owl lateral displacement of globe DOID:12360|ICD10:H05.21|SCTID:48747004|UMLS:C0155272|ICD9:376.36 owl:Class HGNC:10069 biolink:NamedThing RNF6 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001698 biolink:NamedThing Pericardial effusion Accumulation of fluid within the pericardium. tmpak2llvmy_mondo_relaxed.owl Pericardial effusions|Fluid around heart MSH:D010490|Fyler:1940|SNOMEDCT_US:373945007|UMLS:C0031039 human_phenotype owl:Class MONDO:0012805 biolink:NamedThing childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. tmpak2llvmy_mondo_relaxed.owl GLUT1 deficiency syndrome type 2|DYT18|childhood onset GLUT1 deficiency syndrome type 2|childhood onset GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome 2|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|DYT-SLC2A1|ped with or without epilepsy and/or hemolytic Anemia|paroxysmal exertion-induced dyskinesia|paroxysmal exercise-induced dystonia|ped|dystonia 18|GLUT1DS2|PxMD-SLC2A1 DOID:0090045|OMIM:612126|MESH:C564288|SCTID:724072002|Orphanet:98811|GARD:0010541|UMLS:C1842534|ICD10:G24.8 owl:Class NCBITaxon:1762 biolink:NamedThing Mycobacteriaceae tmpak2llvmy_mondo_relaxed.owl PMID:19244447|PMID:30186281|PMID:29497402|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017520 biolink:NamedThing symbrachydactyly of hand and foot, bilateral tmpak2llvmy_mondo_relaxed.owl UMLS:CN203253|ICD10:Q73.8|Orphanet:295138 owl:Class MONDO:0001815 biolink:NamedThing extrapyramidal and movement disease tmpak2llvmy_mondo_relaxed.owl UMLS:C0477355|ICD10:G25.9|ICD10:G20-G26|DOID:13839|ICD9:333.90 owl:Class MONDO:0007051 biolink:NamedThing acromegaloid facial appearance syndrome Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. tmpak2llvmy_mondo_relaxed.owl acromegaloid facial appearance syndrome|thick lips and oral mucosa|AFA syndrome Orphanet:965|SCTID:720456009|GARD:0000501|OMIM:102150|UMLS:C0796280|MESH:C535655|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome owl:Class MONDO:0012932 biolink:NamedThing myopia 16, autosomal dominant tmpak2llvmy_mondo_relaxed.owl myopia 16, autosomal dominant|MYP16 MESH:C567259|UMLS:C2675523|OMIM:612554 owl:Class MONDO:0009718 biolink:NamedThing myxedema A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. tmpak2llvmy_mondo_relaxed.owl myxedema UMLS:C0027145|NCIT:C34834|MESH:D009230|OMIM:255900|EFO:1001055|SCTID:43153006|DOID:11634|MedDRA:10028663|ICD10:E03.9 Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. owl:Class MONDO:0011599 biolink:NamedThing birdshot chorioretinopathy Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. tmpak2llvmy_mondo_relaxed.owl birdshot chorioretinopathy|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|birdshot retinochoroiditis|birdshot chorioretinitis|vitiliginous choroiditis|birdshot retinochoroidopathy|BSCR|Bscr OMIM:605808|UMLS:C0339402|SCTID:231981005|MESH:C537630|ICD10:H30.1|GARD:0005926|UMLS:C1853959|DOID:0111079|Orphanet:179 https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy owl:Class MONDO:0004364 biolink:NamedThing choroid necrotic melanoma tmpak2llvmy_mondo_relaxed.owl choroid necrotic melanoma|necrotic choroid melanoma|necrotic melanoma of the choroid|necrotic melanoma of choroid DOID:7807|NCIT:C6865|UMLS:C1333026 owl:Class MONDO:0012100 biolink:NamedThing major depressive disorder 2 tmpak2llvmy_mondo_relaxed.owl major depressive disorder type 2|major depressive disorder 2|unipolar depression 2|MDD2 OMIM:608691|UMLS:C1837529|MESH:C563875 owl:Class MONDO:0004697 biolink:NamedThing esophageal leukoplakia A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl leukoplakia of the esophagus|leukoplakia of esophagus|esophageal epidermoid metaplasia|esophageal leukoplakia (disease)|esophageal leukoplakia|esophagus leukoplakia esophageal leukoplakia (disease) DOID:9021|HP:0012859|SCTID:89057003|ICD9:530.83|NCIT:C3953|UMLS:C0267095 owl:Class CHEBI:36043 biolink:NamedThing antimicrobial drug A drug used to treat or prevent microbial infections. tmpak2llvmy_mondo_relaxed.owl antimicrobial drugs owl:Class MONDO:0017566 biolink:NamedThing macrodactyly of toes, unilateral tmpak2llvmy_mondo_relaxed.owl macrodactyly of foot, unilateral ICD10:Q74.2|Orphanet:295243 owl:Class MONDO:0004054 biolink:NamedThing acute canaliculitis tmpak2llvmy_mondo_relaxed.owl acute lacrimal canaliculitis|acute canaliculitis, lacrimal UMLS:C0339130|SCTID:84399007|ICD10:H04.33|ICD9:375.31|DOID:6969 owl:Class MONDO:0004055 biolink:NamedThing acute inflammation of lacrimal passage tmpak2llvmy_mondo_relaxed.owl DOID:6970|ICD10:H04.3|SCTID:302900006|UMLS:C0339129|ICD9:375.3 owl:Class MONDO:0017557 biolink:NamedThing Madelung deformity, bilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295223|ICD10:Q74.0 owl:Class MONDO:0018154 biolink:NamedThing Madelung deformity Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow. tmpak2llvmy_mondo_relaxed.owl ICD9:755.54|GARD:0012973|Orphanet:35688|SCTID:4530000|MedDRA:10007700|ICD10:Q74.0 owl:Class UBERON:0004230 biolink:NamedThing urinary bladder neck smooth muscle A portion of smooth muscle tissue that is part of a neck of urinary bladder [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl trigonal muscle|non-striated muscle of neck of urinary bladder|involuntary muscle of urinary bladder neck|involuntary muscle of neck of bladder|involuntary muscle of neck of urinary bladder|vesical neck non-striated muscle|urinary bladder neck non-striated muscle|neck of urinary bladder non-striated muscle|neck of urinary bladder smooth muscle tissue|bladder neck non-striated muscle|smooth muscle of vesical neck|vesical neck smooth muscle|non-striated muscle of urinary bladder neck|neck of urinary bladder smooth muscle|involuntary muscle of bladder neck|smooth muscle of bladder neck|neck of bladder non-striated muscle|smooth muscle of neck of urinary bladder|urinary bladder neck muscle|urinary bladder neck involuntary muscle|non-striated muscle of vesical neck|involuntary muscle of vesical neck|smooth muscle tissue of urinary bladder neck|neck of bladder involuntary muscle|vesical neck involuntary muscle|smooth muscle tissue of vesical neck|neck of bladder smooth muscle tissue|bladder neck involuntary muscle|non-striated muscle of bladder neck|non-striated muscle of neck of bladder|smooth muscle tissue of neck of bladder|neck of urinary bladder involuntary muscle|smooth muscle tissue of bladder neck|urinary bladder neck smooth muscle tissue|smooth muscle tissue of neck of urinary bladder|neck of bladder smooth muscle|trigonal muscle of urinary bladder|bladder neck smooth muscle tissue|vesical neck smooth muscle tissue|smooth muscle of neck of bladder|smooth muscle of urinary bladder neck|bladder neck smooth muscle owl:Class MONDO:0006783 biolink:NamedThing hemopneumothorax Collection of air and blood in the pleural cavity. tmpak2llvmy_mondo_relaxed.owl MedDRA:10060632|SCTID:16632002|MESH:D006468|ICD9:511.89|ICD10:J94.2|EFO:1000963|DOID:2718|UMLS:C0019077 owl:Class GO:0043891 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. tmpak2llvmy_mondo_relaxed.owl glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|triosephosphate dehydrogenase (NAD(P))|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P)+) owl:Class MONDO:0008417 biolink:NamedThing sclerocornea, autosomal dominant tmpak2llvmy_mondo_relaxed.owl sclerocornea, autosomal dominant OMIM:181700|MESH:C566692 owl:Class MONDO:0012040 biolink:NamedThing inflammatory bowel disease 9 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26. tmpak2llvmy_mondo_relaxed.owl IBD9|inflammatory bowel disease 9|inflammatory bowel disease type 9 DOID:0110886|MESH:C563926|UMLS:C1838019|OMIM:608448 owl:Class GO:0099111 biolink:NamedThing microtubule-based transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:74783 biolink:NamedThing astringent A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. tmpak2llvmy_mondo_relaxed.owl adstringent|astringents|adstringents owl:Class MONDO:0010021 biolink:NamedThing seizures, benign familial neonatal, autosomal recessive tmpak2llvmy_mondo_relaxed.owl autosomal dominant form of benign neonatal seizures|seizures, benign familial neonatal, autosomal recessive|convulsions, benign familial neonatal, autosomal recessive|epilepsy, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form|Bfns, autosomal recessive UMLS:C1849250|OMIM:269720|MESH:C564823|GARD:0001519 owl:Class MONDO:0012171 biolink:NamedThing marfanoid habitus with situs inversus tmpak2llvmy_mondo_relaxed.owl marfanoid habitus with situs inversus UMLS:C1836994|OMIM:609008|MESH:C563814 owl:Class MONDO:0007237 biolink:NamedThing familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. tmpak2llvmy_mondo_relaxed.owl juvenile macromastia|JHB|familial juvenile gigantomastia|virginal breast hypertrophy|juvenile gigantomastia|hypertrophy of the breast, juvenile|gigantomastia, juvenile|virginal mammary hypertrophy Orphanet:180176|MESH:C536821|OMIM:113670|UMLS:CN226754|ICD10:N62 owl:Class HGNC:24866 biolink:NamedThing CEP104 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015660 biolink:NamedThing sporadic fetal brain disruption sequence Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237425|Orphanet:1665|SCTID:763717004|ICD10:Q02 owl:Class HP:0002250 biolink:NamedThing Abnormal large intestine morphology Any abnormality of the large intestine. tmpak2llvmy_mondo_relaxed.owl Abnormality of the large intestine UMLS:C4025715 The large intestine comprises the cecum and colon. human_phenotype owl:Class HGNC:403 biolink:NamedThing ALDH3A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015171 biolink:NamedThing congenital enterocyte heparan sulfate deficiency Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. tmpak2llvmy_mondo_relaxed.owl Orphanet:103910|SCTID:725591002|ICD10:P78.3 owl:Class HGNC:2577 biolink:NamedThing CYBA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015788 biolink:NamedThing symptomatic form of hemophilia B in female carriers A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. tmpak2llvmy_mondo_relaxed.owl ICD10:D67|UMLS:CN200370|Orphanet:177929 owl:Class MONDO:0004672 biolink:NamedThing fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. tmpak2llvmy_mondo_relaxed.owl infection by Fasciolopsis buski|infectious disease by Fasciolopsis UMLS:C0015656|DOID:888|ICD10:B66.5|NCIT:C128388|SCTID:54266002|ICD9:121.4 owl:Class NCBITaxon:1511862 biolink:NamedThing Carnivore amdoparvovirus 1 tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004133 biolink:NamedThing pituitary gland mixed eosinophil-basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. tmpak2llvmy_mondo_relaxed.owl pituitary gland mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality)|mixed acidophil-basophil adenoma|mixed eosinophil-basophil adenoma DOID:7179|UMLS:C0334312|NCIT:C4148|ICDO:8281/0 owl:Class MONDO:0018733 biolink:NamedThing intellectual disability syndrome due to a DYRK1A point mutation tmpak2llvmy_mondo_relaxed.owl DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311|UMLS:CN242084 owl:Class MONDO:0017082 biolink:NamedThing basal encephalocele tmpak2llvmy_mondo_relaxed.owl Orphanet:268829|ICD10:Q01.8|UMLS:C4023176 owl:Class MONDO:0100218 biolink:NamedThing arthrogryposis multiplex congenita 5 tmpak2llvmy_mondo_relaxed.owl ARTHROGRYPOSIS MULTIPLEX CONGENITA 5|AMC5 OMIM:618947 http://orcid.org/0000-0001-5208-3432 owl:Class CL:2000033 biolink:NamedThing limb basal cell of epidermis Any basal cell of epidermis that is part of a limb. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T02:28:25Z cell owl:Class MONDO:0001098 biolink:NamedThing separation anxiety disorder An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. tmpak2llvmy_mondo_relaxed.owl MESH:D001010|NCIT:C35014|EFO:1001916|SCTID:11806006|DOID:10685 owl:Class MONDO:0004428 biolink:NamedThing alveoli adenoma A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. tmpak2llvmy_mondo_relaxed.owl adenoma, bronchioloalveolar, benign|alveolar adenoma (morphologic abnormality)|adenoma of alveoli|alveolar adenoma|adenoma of the alveoli UMLS:C0334303|DOID:8003|ICDO:8251/0|NCIT:C4140 owl:Class MONDO:0013317 biolink:NamedThing torsade-de-pointes syndrome with short coupling interval Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. tmpak2llvmy_mondo_relaxed.owl torsade DE pointes, short-coupled variant SCTID:718104007|UMLS:C3150851|ICD10:I49.8|Orphanet:51084|OMIM:613600 owl:Class MONDO:0032780 biolink:NamedThing hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities tmpak2llvmy_mondo_relaxed.owl HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES|HIDEA OMIM:618493 owl:Class MONDO:0005466 biolink:NamedThing hypersomnia A sleep disorder characterized by excessive sleepiness. tmpak2llvmy_mondo_relaxed.owl hypersomnia|hypersomnia (disease) hypersomnia (disease) SCTID:77692006|UMLS:C0917799|HP:0100786|ICD9:780.54|EFO:0005246|NCIT:C78346 owl:Class HP:0002329 biolink:NamedThing Drowsiness Excessive daytime sleepiness. tmpak2llvmy_mondo_relaxed.owl Sleepy|Drowsiness SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|MSH:D012894|UMLS:C0013144 human_phenotype owl:Class MONDO:0015533 biolink:NamedThing benign cephalic histiocytosis tmpak2llvmy_mondo_relaxed.owl UMLS:C0347403|SCTID:255192005|ICD10:D76.3|ICD9:216.8|Orphanet:157997 owl:Class MONDO:0032729 biolink:NamedThing intellectual developmental disorder, autosomal recessive 70 tmpak2llvmy_mondo_relaxed.owl MRT70|Mental Retardation, Autosomal Recessive 70|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM:618402 owl:Class UBERON:0005662 biolink:NamedThing 4th arch ectoderm An ectoderm that is part of a pharyngeal arch 4. tmpak2llvmy_mondo_relaxed.owl 4th pharyngeal arch ectoderm owl:Class MONDO:0032600 biolink:NamedThing Snijders Blok-Campeau syndrome tmpak2llvmy_mondo_relaxed.owl intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies|SNIJDERS BLOK-CAMPEAU SYNDROME|SNIBCPS OMIM:618205 owl:Class MONDO:0013535 biolink:NamedThing hydroxyacyl glutathione hydrolase deficiency tmpak2llvmy_mondo_relaxed.owl glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency MESH:C564215|UMLS:C3279657|OMIM:614033 owl:Class MONDO:0019532 biolink:NamedThing autoimmune hemolytic anemia, warm type Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C). tmpak2llvmy_mondo_relaxed.owl warm-reacting-antibody hemolytic anemia|wAHA|warm antibody AIHA|warm antibody hemolytic anemia|wAIHA|warm antibody autoimmune hemolytic anemia|warm AIHA Orphanet:90033|UMLS:C0272118|GARD:0007876|MedDRA:10047822|ICD10:D59.1|NCIT:C162611|SCTID:3978000 owl:Class MONDO:0010416 biolink:NamedThing deafness, cataract, retinitis pigmentosa, and sperm abnormalities tmpak2llvmy_mondo_relaxed.owl deafness, cataract, retinitis pigmentosa, and sperm abnormalities MESH:C567467|OMIM:300719|UMLS:C2678011 owl:Class MONDO:0004448 biolink:NamedThing frontal sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpak2llvmy_mondo_relaxed.owl frontal sinus inverted papilloma|inverted papilloma of the frontal sinus|inverted papilloma of frontal sinus UMLS:C1333644|DOID:8060|NCIT:C6842 owl:Class MONDO:0003736 biolink:NamedThing cancerophobia An overwhelming, irrational, and persistent fear of being diagnosed with cancer. tmpak2llvmy_mondo_relaxed.owl fear of getting cancer (finding)|Cancerphobia|fear of getting cancer|cancer phobia DOID:602|NCIT:C35492|EFO:1001879 owl:Class MONDO:0005487 biolink:NamedThing schizoaffective disorder A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. tmpak2llvmy_mondo_relaxed.owl NCIT:C94378|ICD10:F25.9|EFO:0005411|ICD10:F25|DOID:5418|ICD9:295.7 owl:Class MONDO:0004813 biolink:NamedThing tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. tmpak2llvmy_mondo_relaxed.owl ICD10:A15.0|ICD9:011.7|ICD9:011.76|ICD9:011.72|UMLS:C0152600|DOID:9534|ICD9:011.71|ICD9:011.73|ICD9:011.70|SCTID:29731002 owl:Class MONDO:0002455 biolink:NamedThing exocervical carcinoma A carcinoma that arises from the squamous epithelium of the exocervix. tmpak2llvmy_mondo_relaxed.owl ectocervix carcinoma|exocervix carcinoma|carcinoma of exocervix|exocervical cancer|carcinoma of the exocervix|carcinoma of ectocervix|exocervical carcinoma NCIT:C7453|SCTID:372100004|UMLS:C1299238|DOID:2892 owl:Class MONDO:0007448 biolink:NamedThing familial dermatographia Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own. tmpak2llvmy_mondo_relaxed.owl VBU|familial dermographism|dermographism|Dermatographism, familial|Dermodistortive urticaria|familial dermatographism|dermatographia|vibratory urticaria|DDU|dermographism, familial|vibratory angioedema|dermatographic urticaria|dermo-distortive urticaria MESH:C536612|ICD10:L50.3|DOID:743|OMIM:125635|SCTID:7632005|GARD:0009480|EFO:1000685|ICD9:708.3 https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism owl:Class HGNC:11875 biolink:NamedThing TMPO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018324 biolink:NamedThing adult-onset myasthenia gravis Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. tmpak2llvmy_mondo_relaxed.owl adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis Orphanet:391490|ICD10:G70.0 owl:Class GO:0060322 biolink:NamedThing head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007580 biolink:NamedThing esterase ES-2, regulator for tmpak2llvmy_mondo_relaxed.owl esterase ES-2, regulator for OMIM:133300 Editor note: consider obsoleting owl:Class MONDO:0013949 biolink:NamedThing peroxisome biogenesis disorder 11A (Zellweger) tmpak2llvmy_mondo_relaxed.owl PBD11A|peroxisome biogenesis disorder, complementation group H|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group 13 DOID:0080485|OMIM:614883|UMLS:C3554000 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008299 biolink:NamedThing posterior column ataxia tmpak2llvmy_mondo_relaxed.owl posterior column ataxia|Biemond ataxia OMIM:176250|MESH:C536342|GARD:0010044|UMLS:C1867923 https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia owl:Class MONDO:0007814 biolink:NamedThing immune deficiency, familial variable tmpak2llvmy_mondo_relaxed.owl immune deficiency, familial variable OMIM:146830|UMLS:C1840266|MESH:C564136|GARD:0002984 https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable owl:Class MONDO:0010783 biolink:NamedThing Alzheimer disease, susceptibility to, mitochondrial tmpak2llvmy_mondo_relaxed.owl Alzheimer disease, susceptibility to, mitochondrial OMIM:502500 owl:Class MONDO:0011460 biolink:NamedThing arrhythmogenic right ventricular dysplasia 6 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. tmpak2llvmy_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular dysplasia type 6|familial arrhythmogenic right ventricular dysplasia 6|ARVC6|arrhythmogenic right ventricular cardiomyopathy 6|ARVD6 UMLS:C1858378|OMIM:604401|MESH:C565775|DOID:0110075|ICD10:I42.8 owl:Class MONDO:0006836 biolink:NamedThing Listeria meningitis Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) tmpak2llvmy_mondo_relaxed.owl Listeria monocytogenes Meningitides|Listeria monocytogenes infectious meningitis|meningoencephalitis, Listeria|Cerebritides, Listeria|Listeria monocytogenes caused infectious meningitis|meningitis, Listeria monocytogenes|Listeria monocytogenes meningitis|Listeria Meningoencephalitides|Meningoencephalitides, Listeria|Meningitides, Listeria|Listeria cerebritis|cerebritis, Listeria|Listeria Cerebritides|Listeria meningitis|Listeria meningoencephalitis|Listeria Meningitides|Meningitides, Listeria monocytogenes EFO:1001021|MESH:D008584|UMLS:C0025293|ICD9:320.7|DOID:11572|SCTID:31568009 owl:Class MONDO:0009996 biolink:NamedThing rhizomelic syndrome, Urbach type Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. tmpak2llvmy_mondo_relaxed.owl rhizomelic syndrome|rhizomelic dysplasia, familial|familial rhizomelic dysplasia UMLS:C1849382|GARD:0004705|MESH:C537611|ICD10:Q87.1|OMIM:268250|Orphanet:3098 owl:Class MONDO:0016078 biolink:NamedThing congenital systemic arteriovenous fistula tmpak2llvmy_mondo_relaxed.owl Orphanet:2039|ICD10:Q27.3 owl:Class MONDO:0030354 biolink:NamedThing facioscapulohumeral muscular dystrophy 3, digenic tmpak2llvmy_mondo_relaxed.owl FSHD3|facioscapulohumeral muscular dystrophy 3, digenic OMIM:619477 owl:Class MONDO:0002029 biolink:NamedThing chronic gonorrhea of cervix Chronic form of gonococcal cervicitis. tmpak2llvmy_mondo_relaxed.owl chronic gonococcal cervicitis|gonococcal cervicitis, chronic UMLS:C0153206|SCTID:76802005|DOID:1512|ICD9:098.35 owl:Class MONDO:0011733 biolink:NamedThing parasomnia, sleep bruxism type tmpak2llvmy_mondo_relaxed.owl parasomnia, Sleeptalking type|nocturnal facio-mandibular myoclonus|parasomnia, sleep bruxism type|PSMNSB|faciomandibular myoclonus, nocturnal MESH:C536389|GARD:0010195|OMIM:606840 owl:Class HP:0045005 biolink:NamedThing Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. tmpak2llvmy_mondo_relaxed.owl Abnormality of neural tube closure MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 HPO:skoehler human_phenotype owl:Class HP:0410043 biolink:NamedThing Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). tmpak2llvmy_mondo_relaxed.owl 2017-09-20 00:25:37+00:00 Fyler:4339 ORCID:0000-0001-5208-3432 human_phenotype owl:Class MONDO:0012913 biolink:NamedThing Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. tmpak2llvmy_mondo_relaxed.owl Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|WAGRO|chromosome 11P13-p12 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wagro syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome|WAGR syndrome with obesity MESH:C567292|OMIM:612469|NCIT:C122804|UMLS:C2675904 owl:Class MONDO:0002125 biolink:NamedThing status epilepticus A life-threatening situation in which the brain is in a continuous state of seizure. tmpak2llvmy_mondo_relaxed.owl generalized convulsive status epilepticus|SE|grand mal status|GCSE NCIT:C85079|DOID:1824|UMLS:C0038220|GARD:0010191|EFO:0008526|SCTID:230456007|MESH:D013226|ICD10:G41 https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus owl:Class MONDO:0100456 biolink:NamedThing neonatal encephalopathy with non-epileptic myoclonus A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4059 owl:Class MONDO:0012998 biolink:NamedThing faciocardiomelic syndrome tmpak2llvmy_mondo_relaxed.owl faciocardiomelic syndrome MESH:C567176|UMLS:C2674798|OMIM:612731 owl:Class HGNC:30220 biolink:NamedThing RFT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044998 biolink:NamedThing carpal region disease A disease or disorder that involves the carpal region. tmpak2llvmy_mondo_relaxed.owl disease or disorder of carpal region|carpal region disease or disorder|disease of carpal region|wrist region disease|disorder of carpal region|disorder of wrist region UMLS:C1290872|SCTID:128130001 owl:Class HP:0002148 biolink:NamedThing Hypophosphatemia An abnormally decreased phosphate concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Hypophosphataemia|Low blood phosphate level UMLS:C0085682|SNOMEDCT_US:4996001|MSH:D017674 human_phenotype owl:Class ECTO:9001640 biolink:NamedThing exposure to electron donor An exposure to electron donor. tmpak2llvmy_mondo_relaxed.owl exposure to electron donor owl:Class MONDO:0011588 biolink:NamedThing platelet-type bleeding disorder 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. tmpak2llvmy_mondo_relaxed.owl PGHS1 deficiency|platelet prostaglandin-endoperoxide synthase 1 deficiency|platelet COX1 deficiency|BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet cyclooxygenase 1 deficiency|bleeding disorder, platelet-type, 12 OMIM:605735|UMLS:C2751535|DOID:0111058|MESH:C567786 owl:Class MONDO:0011404 biolink:NamedThing Caronte tmpak2llvmy_mondo_relaxed.owl Caronte|Car OMIM:604172 Editor note: TODO check owl:Class MONDO:0016121 biolink:NamedThing congenital myotonia tmpak2llvmy_mondo_relaxed.owl ICD10:G71.1|Orphanet:206973 owl:Class CHEBI:38297 biolink:NamedThing thiabicycloalkane tmpak2llvmy_mondo_relaxed.owl thiabicycloalkanes owl:Class HGNC:1980 biolink:NamedThing CILP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025397 biolink:NamedThing canine distemper A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species. tmpak2llvmy_mondo_relaxed.owl canine Distempers|Distempers, canine|Distempers|canine distemper|distemper, canine MESH:D004216 owl:Class MONDO:0004366 biolink:NamedThing mixed astrocytoma-ependymoma-oligodendroglioma A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. tmpak2llvmy_mondo_relaxed.owl mixed astrocytoma-ependymoma-oligodendroglioma UMLS:C0280792|DOID:7817|NCIT:C8272 owl:Class MONDO:0016863 biolink:NamedThing Okihiro syndrome due to 20q13 microdeletion tmpak2llvmy_mondo_relaxed.owl Okihiro syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)|Duane-radial ray syndrome due to monosomy 20q13 UMLS:CN202208|ICD10:Q87.8|Orphanet:261638 owl:Class MONDO:0019999 biolink:NamedThing intestinal malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:97945 owl:Class MONDO:0003972 biolink:NamedThing gastric body carcinoma A carcinoma that arises from epithelial cells of the body of stomach. tmpak2llvmy_mondo_relaxed.owl carcinoma of the gastric body|cancer of the gastric body|body of stomach carcinoma|cancer of body of stomach|carcinoma of body of stomach|carcinoma of the body of the stomach|cancer of the body of the stomach|gastric body (stomach) cancer|gastric body carcinoma|gastric body cancer|carcinoma of gastric body|cancer of gastric body DOID:6705|SCTID:254557000|NCIT:C8399|UMLS:C0345804 owl:Class MONDO:0008020 biolink:NamedThing multiple exostoses with spastic tetraparesis tmpak2llvmy_mondo_relaxed.owl multiple exostoses with spastic tetraparesis|Hamann Zanki schimrigk syndrome|spasticity multiple exostoses MESH:C563566|OMIM:158345|GARD:0000291|UMLS:C1834724 owl:Class NCBITaxon:480118 biolink:NamedThing Eremoneura tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011425 biolink:NamedThing dilated cardiomyopathy 1H A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy with conduction defect|cardiomyopathy, dilated, with conduction defect|dilated cardiomyopathy type 1H|cardiomyopathy, dilated, 1H|CMD1H MESH:C536277|OMIM:604288|DOID:0110429|ICD10:I42.0|UMLS:C1858591 owl:Class MONDO:0003127 biolink:NamedThing embryoma tmpak2llvmy_mondo_relaxed.owl blastoma DOID:4766|UMLS:C0936282 Editor note: consider merging with parent class. Wikipedia says: It is not a precise term, and it is not commonly used in modern medical literature. Embryomas have been defined as: "Adult neoplasms expressing one or more embryo-exclusive genes" owl:Class MONDO:0008571 biolink:NamedThing Blount disease, infantile tmpak2llvmy_mondo_relaxed.owl tibia vara, infantile|Blount disease, infantile|Osteochondrosis deformans tibiae, infantile OMIM:188700|UMLS:C3150037 owl:Class MONDO:0012782 biolink:NamedThing celiac disease, susceptibility to, 13 tmpak2llvmy_mondo_relaxed.owl celiac disease, susceptibility to, 13|gluten-sensitive enteropathy, susceptibility to, 13|CELIAC13 OMIM:612011 owl:Class MONDO:0022930 biolink:NamedThing dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia tmpak2llvmy_mondo_relaxed.owl Aughton sloan Milad syndrome UMLS:C2931823|MESH:C538340|GARD:0000137 https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia owl:Class HGNC:7714 biolink:NamedThing NDUFS7 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0010007 biolink:NamedThing His-Purkinje system cell tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030824 biolink:NamedThing Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. tmpak2llvmy_mondo_relaxed.owl Mizuo-Nakamura phenomenon UMLS:C4280748 human_phenotype owl:Class MONDO:0021575 biolink:NamedThing oocyte maturation defect 4 tmpak2llvmy_mondo_relaxed.owl OOMD4|oocyte maturation defect 4 OMIM:617743|UMLS:CN562785 owl:Class MONDO:0007961 biolink:NamedThing megalencephaly, autosomal dominant tmpak2llvmy_mondo_relaxed.owl megalencephaly, autosomal dominant UMLS:C3805727|OMIM:155350 owl:Class MONDO:0016608 biolink:NamedThing megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). tmpak2llvmy_mondo_relaxed.owl megalencephaly (disease)|macroencephaly|megalencephaly megalencephaly (disease) HP:0001355|MESH:D058627|Orphanet:2477|ICD10:Q04.5|MedDRA:10050183|SCTID:9740002|ICD9:742.4 owl:Class MONDO:0020777 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 2 tmpak2llvmy_mondo_relaxed.owl CDGF2|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 OMIM:618324 owl:Class NCBITaxon:4858 biolink:NamedThing Basidiobolaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001686 biolink:NamedThing anatomical narrow angle borderline glaucoma tmpak2llvmy_mondo_relaxed.owl DOID:13327|ICD9:365.02 owl:Class MONDO:0009574 biolink:NamedThing megalencephaly with dysmyelination tmpak2llvmy_mondo_relaxed.owl megalencephaly with dysmyelination|megalencephaly with diffuse white matter hypodensity MESH:C565408|OMIM:249240|UMLS:C1855309 owl:Class NCBITaxon:2082223 biolink:NamedThing Panagrolaimomorpha tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011384 biolink:NamedThing hypertension, essential, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, 1|Hyt1|hypertension, essential, susceptibility to, type 1 OMIM:603918 owl:Class MONDO:0007792 biolink:NamedThing familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpak2llvmy_mondo_relaxed.owl familial hypocalciuric hypercalcemia type 2|hypercalcemia, familial benign type 2|hypocalciuric hypercalcemia type II|FHH type 2|hypocalciuric hypercalcemia, familial, type 2|hypocalciuric hypercalcemia, familial, type II|HHC2|familial benign hypercalcemia, type 2|hypercalcemia, familial benign, type 2|FBH2 MESH:C537146|UMLS:C1840347|DOID:0060701|Orphanet:101049|ICD10:E83.5|OMIM:145981|GARD:0009758 owl:Class MONDO:0004571 biolink:NamedThing intestinal impaction tmpak2llvmy_mondo_relaxed.owl ICD10:K56.49|ICD10:K56.4|ICD9:560.30|SCTID:62851005|DOID:8448|ICD9:560.39 owl:Class UBERON:0005630 biolink:NamedThing fetal membrane The amnion and chorion which surround and protect a developing fetus. tmpak2llvmy_mondo_relaxed.owl adnexa fetalia owl:Class HGNC:11285 biolink:NamedThing SRD5A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001938 biolink:NamedThing vulvar dystrophy A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. tmpak2llvmy_mondo_relaxed.owl dystrophy of vulva NCIT:C34565|SCTID:51689003|UMLS:C0013426|ICD10:N90.4|DOID:14292|ICD9:624.0|ICD9:624.09 owl:Class MONDO:0002209 biolink:NamedThing heel spur A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. tmpak2llvmy_mondo_relaxed.owl calcaneus exostosis|calcaneal spur ICD10:M77.30|UMLS:C0158322|ICD9:726.73|SCTID:55260003|ICD10:M77.3|DOID:210|MESH:D036982 owl:Class HGNC:2959 biolink:NamedThing DNASE1L3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26784 biolink:NamedThing MTRFR tmpak2llvmy_mondo_relaxed.owl owl:Class GO:1904115 biolink:NamedThing axon cytoplasm Any cytoplasm that is part of a axon. tmpak2llvmy_mondo_relaxed.owl axoplasm owl:Class MONDO:0012920 biolink:NamedThing type 1 diabetes mellitus 21 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. tmpak2llvmy_mondo_relaxed.owl IDDM21|insulin-dependent diabetes mellitus 21|diabetes mellitus, insulin-dependent, 21 UMLS:C2675865|OMIM:612521|ICD10:E10|DOID:0110758|MESH:C567285 owl:Class MONDO:0032789 biolink:NamedThing intellectual developmental disorder, autosomal recessive 71 tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71|MRT71|Mental Retardation, Autosomal Recessive 71 OMIM:618504 owl:Class MONDO:0002644 biolink:NamedThing idiopathic granulomatous myositis tmpak2llvmy_mondo_relaxed.owl granulomatous myositis|idiopathic granulomatous myositis NCIT:C27575|DOID:3428|UMLS:C1334150|Orphanet:206979 owl:Class MONDO:0016618 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies tmpak2llvmy_mondo_relaxed.owl polyarthritis without rheumatoid factor without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Orphanet:247861|ICD10:M08.3 owl:Class NCBITaxon:642 biolink:NamedThing Aeromonas tmpak2llvmy_mondo_relaxed.owl PMID:11155981|PMID:1380286|PMID:16560691|PMID:7520733|PMID:12067377|PMID:8934910|PMID:15388703|PMID:8347521|PMID:12807216|GC_ID:11|PMID:17158971|PMID:19567585|PMID:1380289|PMID:17012583 ncbi_taxonomy owl:Class NCBITaxon:84642 biolink:NamedThing Aeromonadaceae tmpak2llvmy_mondo_relaxed.owl Aeromonas group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0041825 biolink:NamedThing bacterial meningitis caused by gram-negative bacteria tmpak2llvmy_mondo_relaxed.owl bacterial meningitis caused by gram-negative bacteria|gram-negative bacterial meningitis|bacterial meningitis due to gram-negative bacteria|meningitis with gram negative bacteria UMLS:C0854215|SCTID:425887005 owl:Class MONDO:0011935 biolink:NamedThing retinitis pigmentosa 30 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa type 30|RP30|FSCN2 retinitis pigmentosa|RP 30|retinitis pigmentosa caused by mutation in FSCN2|macular Degeneration|retinitis pigmentosa 30 GARD:0010401|UMLS:C1842816|OMIM:607921|ICD10:H35.5|DOID:0110406 owl:Class MONDO:0029131 biolink:NamedThing peripheral neuropathy, autosomal recessive, with or without impaired intellectual development tmpak2llvmy_mondo_relaxed.owl peripheral neuropathy, autosomal recessive, with or without impaired intellectual development|PNRIID OMIM:618124 owl:Class MONDO:0017480 biolink:NamedThing amelia of lower limb, unilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q72.0|Orphanet:295057 owl:Class MONDO:0100414 biolink:NamedThing acute myeloid leukemia, CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.) tmpak2llvmy_mondo_relaxed.owl AML, C/EBP-Alpha Gene Mutation|AML, CEBP Gene Mutation|AML, C/EBPalpha Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation|AML, CEBPA gene mutation|AML, CEBPA Mutation|AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation NCIT:C151898 owl:Class MONDO:0020706 biolink:NamedThing Heberden's node Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis. tmpak2llvmy_mondo_relaxed.owl Heberden's node|tuberculum arthriticum NCIT:C34671|SCTID:239869009 owl:Class HGNC:17194 biolink:NamedThing NDUFA13 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002121 biolink:NamedThing CD24-negative CD38-negative IgG-negative class switched memory B cell A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0018337 biolink:NamedThing severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency tmpak2llvmy_mondo_relaxed.owl ICD10:E88.8|Orphanet:397593 owl:Class CHEBI:51151 biolink:NamedThing dipolar compound An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. tmpak2llvmy_mondo_relaxed.owl dipolar compounds owl:Class NCIT:C36779 biolink:NamedThing Malignant Epithelial Cell tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:35219 biolink:NamedThing plant growth retardant tmpak2llvmy_mondo_relaxed.owl plant growth retardants|plant growth inhibitor|plant growth inhibitors owl:Class MONDO:0020317 biolink:NamedThing acute myeloid leukemia with 11q23 abnormalities An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. tmpak2llvmy_mondo_relaxed.owl acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|AML with 11q23 abnormalities|acute myeloid leukemia with 11q23 (MLL) abnormalities|AML with t(9;11)(p22;q23); MLLT3-MLL ICD10:C92.6|SCTID:444911000|Orphanet:98831|ICDO:9897/3|NCIT:C82403 owl:Class MONDO:0006382 biolink:NamedThing poorly differentiated thyroid gland carcinoma An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004) tmpak2llvmy_mondo_relaxed.owl thyroid gland poorly differentiated carcinoma|poorly differentiated thyroid cancer|poorly differentiated thyroid carcinoma|poorly differentiated thyroid gland carcinoma|poorly differentiated thyroid gland cancer|poorly differentiated carcinoma of the thyroid gland|poorly differentiated carcinoma of thyroid gland|insular carcinoma ICDO:8337/3|ONCOTREE:THPD|EFO:1000489|UMLS:C1266050|NCIT:C6040 owl:Class UBERON:0003294 biolink:NamedThing gland of foregut A gland that is part of a foregut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl foregut gland owl:Class MONDO:0100186 biolink:NamedThing GTP cyclohydrolase I deficiency with hyperphenylalaninemia tmpak2llvmy_mondo_relaxed.owl hyperphenylalaninemia, BH4-deficient, B|GTP cyclohydrolase I deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|GTPCH deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|hyperphenylalaninemia, Bh4-deficient, type B|HPABH4B|GTP cyclohydrolase 1 deficiency UMLS:C0268467|GARD:0002844|Orphanet:2102|OMIM:233910|SCTID:23447005|ICD10:E70.1|NCIT:C141442 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency owl:Class MONDO:0022875 biolink:NamedThing cortada Koussef Matsumoto syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001546 https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome owl:Class MONDO:0006128 biolink:NamedThing central nervous system anaplastic large cell lymphoma An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord. tmpak2llvmy_mondo_relaxed.owl anaplastic large cell lymphoma of central nervous system|central nervous system anaplastic large cell lymphoma|anaplastic large cell lymphoma of the central nervous system|anaplastic large cell lymphoma of the CNS|primary CNS anaplastic large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|anaplastic large cell lymphoma of CNS|anaplastic CNS large cell lymphoma|anaplastic central nervous system large cell lymphoma EFO:1000156|NCIT:C5322|UMLS:C1335476 owl:Class MONDO:0009100 biolink:NamedThing IDDM 1 tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, type 1|insulin-dependent diabetes mellitus 1|diabetes mellitus, insulin-dependent, 1|IDDM|IDDM1|juvenile-onset diabetes|diabetes mellitus, insulin-dependent OMIM:222100 owl:Class MONDO:0018048 biolink:NamedThing heparin-induced thrombocytopenia Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. tmpak2llvmy_mondo_relaxed.owl heparin-induced thrombocytopenia|HAT|heparin-induced thrombocytopenia (disease)|heparin-induced thrombocytopenia type 2|HIT|heparin-associated thrombocytopenia heparin-induced thrombocytopenia (disease) HP:0011874|MedDRA:10062506|ICD10:D69.5|Orphanet:3325|ICD9:289.84|UMLS:C0272285|GARD:0002650|SCTID:73397007 owl:Class HP:0010465 biolink:NamedThing Precocious puberty in females The onset of puberty before the age of 8 years in girls. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:19911007|UMLS:C0271616 peter 2009-09-15T08:48:42Z human_phenotype owl:Class HP:0000826 biolink:NamedThing Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. tmpak2llvmy_mondo_relaxed.owl Early puberty|Early onset of puberty MSH:D011629|SNOMEDCT_US:123527003|SNOMEDCT_US:400179000|UMLS:C0034013 human_phenotype owl:Class MONDO:0017935 biolink:NamedThing hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF1A deficiency SCTID:721234004|ICD10:E16.1|Orphanet:324575|UMLS:C4303475 owl:Class ENVO:00000019 biolink:NamedThing saline lake A lake whose water contains a considerable concentration of dissolved salts. tmpak2llvmy_mondo_relaxed.owl soda lake|salina|salt lake owl:Class MONDO:0017467 biolink:NamedThing tibio-fibular synostosis Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. tmpak2llvmy_mondo_relaxed.owl Tibio-fibular fusion ICD10:Q74.2|SCTID:737581000|Orphanet:295028 owl:Class MONDO:0015872 biolink:NamedThing giant adenofibroma of the breast Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. tmpak2llvmy_mondo_relaxed.owl Orphanet:180267|UMLS:CN200476|ICD10:D24 owl:Class MONDO:0013858 biolink:NamedThing pontine tegmental cap dysplasia Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. tmpak2llvmy_mondo_relaxed.owl PONTINE tegmental CAP dysplasia|pontine tegmental cap dysplasia|PTCD GARD:0010919|OMIM:614688|Orphanet:269229|UMLS:C3541340|ICD10:Q04.8 https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia owl:Class MONDO:0001962 biolink:NamedThing abnormality of glucagon secretion tmpak2llvmy_mondo_relaxed.owl glucagon secretion abnormality DOID:14427|UMLS:C0154191|ICD9:251.4|SCTID:11178005 owl:Class MONDO:0060663 biolink:NamedThing congenital heart defects, multiple types, 5 tmpak2llvmy_mondo_relaxed.owl CHTD5|CONGENITAL heart defects, multiple types, 5 OMIM:617912|UMLS:CN873437 owl:Class MONDO:0016603 biolink:NamedThing citrullinemia type II Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. tmpak2llvmy_mondo_relaxed.owl citrullinemia type 2|CTLN2|adult-onset type II citrullinemia|adult-onset type 2 citrullinemia|citrullinemia type II|adult-onset citrin deficiency Orphanet:247585|SCTID:716863007|NCIT:C150603|ICD10:E72.2 owl:Class HP:0002345 biolink:NamedThing Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. tmpak2llvmy_mondo_relaxed.owl Ataxic tremor UMLS:C0234376|SNOMEDCT_US:30721006|MSH:D014202|UMLS:C4020853 Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors human_phenotype owl:Class HGNC:29418 biolink:NamedThing FNIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007346 biolink:NamedThing cochleosaccular degeneration-cataract syndrome Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl COCHLEOSACCULAR degeneration with progressive cataracts|Cochleosaccular Degeneration of the inner Ear with progressive cataracts|Cochleosaccular Degeneration|Cochleosaccular degeneration of the inner ear and progressive cataracts UMLS:C1861512|MESH:C536432|GARD:0009418|SCTID:715528001|OMIM:120040|Orphanet:3233 https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts owl:Class MONDO:0010422 biolink:NamedThing Alzheimer disease 16 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease 16|Alzheimer disease 16|AD16|Alzheimer's disease type 16 OMIM:300756|MESH:C567463|DOID:0110036|UMLS:C2677888 owl:Class MONDO:0012172 biolink:NamedThing mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. tmpak2llvmy_mondo_relaxed.owl TFPD|TFP deficiency|trifunctional Protein deficiency|trifunctional Protein deficiency with myopathy and neuropathy|MTPD|mitochondrial trifunctional protein deficiency|mitochondrial trifunctional PROTEIN deficiency NCIT:C98991|OMIM:609015|SCTID:237999008|Orphanet:746|ICD10:G71.3|MESH:C566945|DOID:0111277|GARD:0003684|ICD9:277.85 https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency owl:Class HGNC:2610 biolink:NamedThing CYP2A6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009938 biolink:NamedThing pulmonic stenosis tmpak2llvmy_mondo_relaxed.owl pulmonic stenosis|valvular pulmonic stenosis|pulmonic stenosis (disease)|pulmonary stenosis pulmonic stenosis (disease) GARD:0010071|UMLS:C1956257|HP:0001642|OMIM:265500 owl:Class HGNC:3618 biolink:NamedThing FCGR2B tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:33240 biolink:NamedThing coordination entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). tmpak2llvmy_mondo_relaxed.owl coordination entities|coordination entity|coordination compounds owl:Class MONDO:0010971 biolink:NamedThing infundibulopelvic stenosis-multicystic kidney syndrome Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. tmpak2llvmy_mondo_relaxed.owl infundibulopelvic dysgenesis UMLS:C1832949|OMIM:600989|GARD:0003005|MESH:C535528|Orphanet:1849|SCTID:725905005 owl:Class GO:0043457 biolink:NamedThing regulation of cellular respiration Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018624 biolink:NamedThing spontaneous intracranial hypotension tmpak2llvmy_mondo_relaxed.owl spontaneous cerebrospinal fluid leak UMLS:CN237665|Orphanet:443180|ICD10:G96.0 owl:Class MONDO:0032736 biolink:NamedThing metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression tmpak2llvmy_mondo_relaxed.owl METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION|MECREN OMIM:618416 owl:Class MONDO:0017488 biolink:NamedThing ulnar hemimelia, bilateral tmpak2llvmy_mondo_relaxed.owl ulnar longitudinal meromelia, bilateral Orphanet:295073|ICD10:Q71.5 owl:Class CL:2000070 biolink:NamedThing optic choroid fibroblast Any fibroblast that is part of a optic choroid. tmpak2llvmy_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6620 TermGenie 2014-10-07T18:50:43Z cell owl:Class MONDO:0012046 biolink:NamedThing congenital corneal opacities, cornea guttata, and corectopia tmpak2llvmy_mondo_relaxed.owl corneal opacities, congenital, with cornea guttata and corectopia|congenital corneal opacities, cornea guttata, and corectopia MESH:C563921|OMIM:608484|UMLS:C1837970 owl:Class HGNC:1984 biolink:NamedThing CISH tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:577468 biolink:NamedThing Micrococcales incertae sedis tmpak2llvmy_mondo_relaxed.owl unclassified Micrococcineae GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014946 biolink:NamedThing Sifrim-Hitz-Weiss syndrome tmpak2llvmy_mondo_relaxed.owl Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss syndrome; SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome|SIHIWES UMLS:C4310688|OMIM:617159 owl:Class MONDO:0017926 biolink:NamedThing multiple paragangliomas associated with polycythemia tmpak2llvmy_mondo_relaxed.owl paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis UMLS:CN204064|Orphanet:324299 owl:Class MONDO:0013996 biolink:NamedThing focal facial dermal dysplasia type II Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. tmpak2llvmy_mondo_relaxed.owl FFDD2|focal facial dermal dysplasia 2, Brauer-Setleis type|FFDD type II|Brauer-Setleis syndrome OMIM:614973|Orphanet:398173|ICD10:Q82.8|UMLS:C3554245 owl:Class GO:0098773 biolink:NamedThing skin epidermis development The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1773 biolink:NamedThing CDK4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005469 biolink:NamedThing orthostatic hypotension Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. tmpak2llvmy_mondo_relaxed.owl orthostatic hypotension (disease)|orthostatic hypotension orthostatic hypotension (disease) ICD9:458.0|SCTID:28651003|HP:0001278|EFO:0005252 owl:Class MONDO:0017147 biolink:NamedThing idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. tmpak2llvmy_mondo_relaxed.owl IPAH|primary pulmonary arterial hypertension ICD9:416.0|UMLS:CN202574|UMLS:C3203102|MedDRA:10065151|Orphanet:275766|SCTID:697898008|ICD10:I27.0 owl:Class MONDO:0017418 biolink:NamedThing chronic intestinal failure Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). tmpak2llvmy_mondo_relaxed.owl CIF UMLS:C4274352|UMLS:CN203168|Orphanet:294422|SCTID:716665002 owl:Class MONDO:0600010 biolink:NamedThing moderate hypophosphatasia Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0033645 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 11 tmpak2llvmy_mondo_relaxed.owl MC4DN11 OMIM:619054 owl:Class HGNC:24595 biolink:NamedThing DYNC2LI1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006338 biolink:NamedThing lateral ventricle choroid plexus stroma A choroid plexus stroma that is part of a lateral ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017248 biolink:NamedThing congenital pulmonary airway malformation type 0 tmpak2llvmy_mondo_relaxed.owl CPAM type 0|congenital cystic adenomatous malformation of the lung type 0|congenital cystic adenomatoid malformation of the lung type 0 Orphanet:280827|ICD10:Q33.0 owl:Class MONDO:0004450 biolink:NamedThing carotid artery occlusion A occlusion precerebral artery that involves the carotid artery segment. tmpak2llvmy_mondo_relaxed.owl occlusion and stenosis of carotid artery|occlusion precerebral artery of carotid artery segment|carotid artery segment occlusion precerebral artery ICD9:433.10|SCTID:266254007|DOID:807|UMLS:C0265101 owl:Class HP:0009804 biolink:NamedThing Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop tmpak2llvmy_mondo_relaxed.owl Dental agenesis|Fewer teeth than normal|Reduced number of teeth|Teeth, agenesis|Missing some teeth|Decreased number of teeth|Tooth agenesis|Decreased tooth count|Failure of development of some teeth UMLS:C4024202|UMLS:C4083050 Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. 2009-02-14T06:20:53Z human_phenotype owl:Class MONDO:0005624 biolink:NamedThing atrophic thyroiditis Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. tmpak2llvmy_mondo_relaxed.owl EFO:0006813|UMLS:C0238183|SCTID:83664006 It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient owl:Class MONDO:0018708 biolink:NamedThing squamous cell carcinoma of the oral tongue tmpak2llvmy_mondo_relaxed.owl OTSCC|oral tongue squamous cell carcinoma UMLS:CN242132|ICD10:C02.3|ICD10:C02.4|Orphanet:457252|ICD10:C02.1|ICD10:C02.2|ICD10:C02.8|ICD10:C02.0 owl:Class MONDO:0004817 biolink:NamedThing non-secretory plasma cell myeloma A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. tmpak2llvmy_mondo_relaxed.owl non-secreting myeloma|non-secretory multiple myeloma|non-secretory myeloma|non-functioning myeloma|non-secretory plasma cell myeloma NCIT:C4734|UMLS:C0456845|UMLS:C3898125|DOID:9547|SCTID:277580004 owl:Class MONDO:0041167 biolink:NamedThing carcinoid crisis A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. tmpak2llvmy_mondo_relaxed.owl carcinoid crisis SCTID:237833006|UMLS:C0342569 Editor note: consider ceding to HPO owl:Class HGNC:9802 biolink:NamedThing RAC2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002188 biolink:NamedThing vulvar nodular hidradenoma A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. tmpak2llvmy_mondo_relaxed.owl vulvar nodular hidradenoma|nodular hidradenoma of mammalian vulva|mammalian vulva nodular hidradenoma NCIT:C40312|UMLS:C1520091|DOID:2060 owl:Class HGNC:4036 biolink:NamedThing FYB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017392 biolink:NamedThing pre-descemet corneal dystrophy Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. tmpak2llvmy_mondo_relaxed.owl PDCD SCTID:231934009|ICD9:371.56|ICD10:H18.5|Orphanet:293462 owl:Class MONDO:0020351 biolink:NamedThing Blake pouch cyst Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. tmpak2llvmy_mondo_relaxed.owl Orphanet:98922|ICD10:Q03.1 owl:Class FOODON:03000001 biolink:NamedThing food peeling process peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp). tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0004191 biolink:NamedThing nephrogenic adenoma So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. tmpak2llvmy_mondo_relaxed.owl nephrogenic adenoma UMLS:C0334039|NCIT:C7413|DOID:7334 owl:Class MONDO:0032625 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 21 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21|MC1DN21 OMIM:618242 owl:Class MONDO:0020179 biolink:NamedThing palpebral nevus A melanocytic nevus that involves the skin of eyelid. tmpak2llvmy_mondo_relaxed.owl melanocytic nevus of skin of eyelid|nevus of the eyelid|nevus of eyelid|eyelid nevus|skin of eyelid melanocytic nevus SCTID:231827008|NCIT:C3880|UMLS:C0239460|Orphanet:98588 owl:Class GO:0007113 biolink:NamedThing endomitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. tmpak2llvmy_mondo_relaxed.owl endomitosis owl:Class HGNC:21484 biolink:NamedThing MCM9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019813 biolink:NamedThing congenital tricuspid stenosis tmpak2llvmy_mondo_relaxed.owl SCTID:36233006|MedDRA:10010656|Orphanet:95459|ICD10:Q22.4 owl:Class MONDO:0005312 biolink:NamedThing pouchitis Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative). tmpak2llvmy_mondo_relaxed.owl ICD9:569.71|Orphanet:217067|EFO:0003921|ICD10:K91.850|UMLS:C0376620|MESH:D019449 owl:Class HGNC:20376 biolink:NamedThing SUMF1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000274 biolink:NamedThing Small face A face that is short (HP:0011219) and narrow (HP:0000275). tmpak2llvmy_mondo_relaxed.owl Hypoplasia of face|Small facies|Facial hypoplasia|Microfacies|Short and narrow face|Microface|Small face UMLS:C1855538 This term represents a combination of two terms, short face and narrow face. human_phenotype owl:Class MONDO:0007505 biolink:NamedThing earring holes, natural tmpak2llvmy_mondo_relaxed.owl earlobe sinuses|earring holes, natural OMIM:129000 owl:Class MONDO:0006411 biolink:NamedThing sinonasal undifferentiated carcinoma A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. tmpak2llvmy_mondo_relaxed.owl sinonasal undifferentiated carcinoma|highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|SNUC|undifferentiated Sinonasal cancer|Sinonasal anaplastic carcinoma ONCOTREE:SNUC|SCTID:697993003|MESH:C537344|NCIT:C54294|GARD:0009249|UMLS:C1710096|EFO:1000527 https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma owl:Class MONDO:0003938 biolink:NamedThing bladder colonic type adenocarcinoma tmpak2llvmy_mondo_relaxed.owl bladder colonic type adenocarcinoma|bladder enteric type adenocarcinoma DOID:6594|NCIT:C39835|UMLS:C1511188 owl:Class MONDO:0043377 biolink:NamedThing juvenile spondyloarthropathy A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. tmpak2llvmy_mondo_relaxed.owl juvenile Spondyloarthritis|juvenile spondyloarthropathy|JSpA SCTID:239806000|UMLS:C0409676|NCIT:C114347|GARD:0012939 owl:Class MONDO:0010098 biolink:NamedThing taurodontism Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. tmpak2llvmy_mondo_relaxed.owl taurodontism (disease)|Bull teeth|taurodontism|large pulp chambers in the molars taurodontism (disease) Orphanet:3289|OMIM:272700|HP:0000679|ICD10:K00.2|MESH:C536946|UMLS:C0266039|SCTID:51744007|GARD:0005119 owl:Class MONDO:0030854 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 tmpak2llvmy_mondo_relaxed.owl OIEDS1|OIEDS Syndrome 1|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 OMIM:619115 owl:Class MONDO:0004194 biolink:NamedThing ovarian stromal hyperthecosis A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. tmpak2llvmy_mondo_relaxed.owl DOID:7347|UMLS:C1518743|NCIT:C40446 owl:Class MONDO:0100315 biolink:NamedThing isolated adrenal insufficiency An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age. tmpak2llvmy_mondo_relaxed.owl isolated adrenal insufficiency http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7422 biolink:NamedThing MT-CO3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032880 biolink:NamedThing developmental and epileptic encephalopathy, 82 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 82|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82|EIEE82|Got2 Deficiency|DEE82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of OMIM:618721 owl:Class MONDO:0007912 biolink:NamedThing lithium transport tmpak2llvmy_mondo_relaxed.owl lithium transport OMIM:152420 owl:Class UBERON:0004412 biolink:NamedThing proximal epiphysis of femur A proximal epiphysis that is part of a femur [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl capital femoral epiphysis|proximal femoral epiphysis owl:Class ENVO:01000176 biolink:NamedThing shrubland biome A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013098 biolink:NamedThing noise induced hearing loss A condition in which a person loses the ability to hear due to exposure to high intensity sound. tmpak2llvmy_mondo_relaxed.owl noise-induced hearing loss|hearing loss, noise-induced, susceptibility to|NIHL MESH:D006317|SCTID:73415002|NCIT:C34664|OMIM:613035|ICD9:388.12|EFO:1001254 owl:Class MONDO:0008724 biolink:NamedThing adducted thumbs-arthrogryposis syndrome, Christian type A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. tmpak2llvmy_mondo_relaxed.owl adducted thumbs syndrome Orphanet:2952|ICD10:Q74.8|OMIM:201550 owl:Class MONDO:0014700 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation|Au-Kline syndrome|AU-Kline syndrome|AUKS UMLS:CN237748|OMIM:616580|Orphanet:453504|UMLS:C4225274 owl:Class MONDO:0007787 biolink:NamedThing Ambras type hypertrichosis universalis congenita Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. tmpak2llvmy_mondo_relaxed.owl HTC 1|hypertrichosis universalis congenita Ambras type|congenital generalized hypertrichosis, Ambras type|hypertrichosis, congenital generalized|HTC1|Ambras syndrome|hypertrichosis universalis congenita, Ambras type DOID:0111060|UMLS:C1840362|GARD:0008206|OMIM:145701|Orphanet:1023|ICD10:Q84.2 owl:Class MONDO:0012213 biolink:NamedThing hereditary spastic paraplegia 26 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 26|hereditary spastic paraplegia type 26|SPG26|GM2 synthase deficiency|spastic paraplegia 26, autosomal recessive|autosomal recessive spastic paraplegia type 26|autosomal recessive spastic paraplegia 26 Orphanet:101006|SCTID:726607007|GARD:0009587|MESH:C536862|ICD10:G11.4|UMLS:C1836632|DOID:0110777|UMLS:C4511959|OMIM:609195 owl:Class MONDO:0001038 biolink:NamedThing perforated corneal ulcer tmpak2llvmy_mondo_relaxed.owl ICD9:370.06|DOID:10445|ICD10:H16.07|UMLS:C0151844|SCTID:46606001 owl:Class HGNC:11811 biolink:NamedThing KLF11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032677 biolink:NamedThing lissencephaly 9 with complex brainstem malformation tmpak2llvmy_mondo_relaxed.owl LIS9|LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION Orphanet:572013|OMIM:618325 owl:Class MONDO:0100114 biolink:NamedThing dry age related macular degeneration Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy. tmpak2llvmy_mondo_relaxed.owl dry ARMD|dry AMD MEDDRA:10075567 http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000506 biolink:NamedThing enkephalin secreting cell An endorphine cell that secretes enkephalin. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CL:0000569 biolink:NamedThing cardiac mesenchymal cell A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. tmpak2llvmy_mondo_relaxed.owl cell owl:Class CHEBI:64911 biolink:NamedThing antimitotic Any compound that inhibits cell division (mitosis). tmpak2llvmy_mondo_relaxed.owl mitotic inhibitor|mitosis inhibitor|mitosis inhibitors|mitotic inhibitors|antimitotics owl:Class NCIT:C38328 biolink:NamedThing Unfavorable Clinical Outcome tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011439 biolink:NamedThing spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. tmpak2llvmy_mondo_relaxed.owl SCA12|spinocerebellar ataxia 12|spinocerebellar ataxia type 12 UMLS:C1858501|UMLS:C4304885|ICD10:G11.2|Orphanet:98762|OMIM:604326|DOID:0050962|SCTID:719208005|GARD:0010476|NCIT:C154316|MESH:C565790 owl:Class CL:0002604 biolink:NamedThing astrocyte of the hippocampus tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T06:57:33Z cell owl:Class MONDO:0019034 biolink:NamedThing accessory pancreas Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. tmpak2llvmy_mondo_relaxed.owl pancreas accessorium MESH:C536003|GARD:0000454|ICD10:Q45.3|SCTID:79037006|Orphanet:674 https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas owl:Class MONDO:0012473 biolink:NamedThing right pulmonary artery, anomalous origin of, familial tmpak2llvmy_mondo_relaxed.owl right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus|Arpa, familial|familial anomalous origin of right pulmonary artery|right pulmonary artery, anomalous origin of, familial|familial ARPA|ARPA familial|anomalous origin of right pulmonary artery familial MESH:C535681|UMLS:C1835910|OMIM:610338|GARD:0010146 https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial owl:Class ENVO:01001090 biolink:NamedThing formation of a solid aerosol from gaseous material in an atmosphere A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere. tmpak2llvmy_mondo_relaxed.owl formation of solid particles from gaseous material in an atmosphere|formation of a solid aerosol in an atmosphere|atmospheric formation of a solid aerosol|formation of a solid aerosol in the atmosphere owl:Class MONDO:0012922 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 5 tmpak2llvmy_mondo_relaxed.owl infantile hypertrophic pyloric stenosis type 5|pyloric stenosis, infantile hypertrophic, 5|IHPS5 MESH:C567283|OMIM:612525|UMLS:C2675862 owl:Class MONDO:0002946 biolink:NamedThing gynatresia A congenital or acquired occlusion of an opening in any part of the female genital tract. tmpak2llvmy_mondo_relaxed.owl MESH:D006175|DOID:429|NCIT:C84743|UMLS:C0018414|EFO:1001335 owl:Class HGNC:9181 biolink:NamedThing POLH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017964 biolink:NamedThing 46,XX disorder of sex development induced by exogenous maternal-derived androgen tmpak2llvmy_mondo_relaxed.owl 46,XX DSD induced by exogenous maternal-derived androgen ICD10:Q56.2|UMLS:CN227228|Orphanet:325099 owl:Class HGNC:5382 biolink:NamedThing IDH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013779 biolink:NamedThing Wiskott-Aldrich syndrome 2 Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene. tmpak2llvmy_mondo_relaxed.owl WAS2|Wipf1 deficiency|WIPF1 Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome type 2|Wiskott-Aldrich syndrome 2|Wiskott-Aldrich syndrome caused by mutation in WIPF1 OMIM:614493|UMLS:C3281001|OMIM:277970 owl:Class MONDO:0001885 biolink:NamedThing lateral cystocele tmpak2llvmy_mondo_relaxed.owl SCTID:441891001|UMLS:C2711750|ICD9:618.02|DOID:14130|ICD10:N81.12 owl:Class MONDO:0001791 biolink:NamedThing neonatal urinary tract infectious disease tmpak2llvmy_mondo_relaxed.owl urinary tract infection of newborn ICD10:P39.3|UMLS:C0235815|SCTID:12301009|DOID:1375|ICD9:771.82 owl:Class MONDO:0054739 biolink:NamedThing Fraser syndrome 3 tmpak2llvmy_mondo_relaxed.owl Fraser syndrome 3|FRASRS3 DOID:0111406|UMLS:C4540040|OMIM:617667 owl:Class HGNC:26114 biolink:NamedThing EDC3 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:50689 biolink:NamedThing reproductive control drug A substance used either in the prevention or facilitation of pregnancy. tmpak2llvmy_mondo_relaxed.owl reproductive control drugs|reproductive control agent owl:Class MONDO:0008058 biolink:NamedThing cylindrical spirals myopathy Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. tmpak2llvmy_mondo_relaxed.owl myotonic myopathy with cylindrical spirals MESH:C563535|OMIM:160990|DOID:0080103|GARD:0011906|ICD10:G71.2|Orphanet:171886|SCTID:764525006|UMLS:C1834418 https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy owl:Class MONDO:0019630 biolink:NamedThing congenital ectropion uveae Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. tmpak2llvmy_mondo_relaxed.owl Orphanet:91491|ICD10:Q10.1 owl:Class IAO:0000225 biolink:NamedThing obsolescence reason specification The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpak2llvmy_mondo_relaxed.owl The creation of this class has been inspired in part by Werner Ceusters' paper, Applying evolutionary terminology auditing to the Gene Ontology. obsolescence reason specification PERSON: Alan Ruttenberg|PERSON: Melanie Courtot owl:Class ENVO:01001155 biolink:NamedThing astrogeological gas An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium. tmpak2llvmy_mondo_relaxed.owl gas owl:Class MONDO:0008431 biolink:NamedThing slipped femoral capital epiphyses A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. tmpak2llvmy_mondo_relaxed.owl epiphysiolysis capitis femoris|slipped femoral capital epiphyses MESH:D060048|UMLS:C0149887|OMIM:182260 owl:Class MONDO:0006630 biolink:NamedThing osteoarthritis, spine A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). tmpak2llvmy_mondo_relaxed.owl EFO:1000787|MESH:D055013|SCTID:8847002 owl:Class HGNC:11647 biolink:NamedThing TCIRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001521 biolink:NamedThing intermittent explosive disorder A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. tmpak2llvmy_mondo_relaxed.owl explosive personality disorder SCTID:231527003|ICD10:F63.81|ICD9:312.34|DOID:12401|ICD9:301.3|NCIT:C94332|ICD10:F60.3 owl:Class MONDO:0011140 biolink:NamedThing benign familial neonatal-infantile seizures Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl convulsions benign familial neonatal|benign neonatal-infantile epilepsy|benign familial infantile convulsions|epilepsy, benign neonatal-infantile|BFIS1|BFNIS|seizures, benign familial infantile, 1|convulsions, benign familial infantile, 1|benign familial neonatal-infantile seizures ICD10:G40.4|GARD:0001518|Orphanet:140927|MedDRA:10067866 owl:Class ENVO:01001091 biolink:NamedThing formation of a liquid aerosol from gaseous material in an atmosphere A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere. tmpak2llvmy_mondo_relaxed.owl formation of liquid droplets from gaseous material in an atmosphere|formation of a liquid aerosol in an atmosphere|formation of a liquid aerosol in the atmosphere|atmospheric formation of a liquid aerosol|formation of liquid particles from gaseous material in an atmosphere owl:Class MONDO:0009153 biolink:NamedThing ectopia lentis et pupillae tmpak2llvmy_mondo_relaxed.owl ectopia lentis with ectopia of pupil|ectopia lentis et pupillae MESH:C563268|UMLS:C1644196|SCTID:419237004|OMIM:225200|DOID:0111648 owl:Class MONDO:0056822 biolink:NamedThing amyotonia congenita tmpak2llvmy_mondo_relaxed.owl Oppenheim disease|amyotonia congenita OMIM:205000 owl:Class MONDO:0010780 biolink:NamedThing mitochondrial myopathy with reversible cytochrome C oxidase deficiency tmpak2llvmy_mondo_relaxed.owl reversible infantile cytochrome C oxidase deficiency|mitochondrial myopathy, infantile, transient|mitochondrial myopathy with reversible COX deficiency|mitochondrial myopathy with reversible complex IV deficiency|benign COX deficiency|MMIT|Cox deficiency myopathy, infantile, transient|respiratory chain deficiency, infantile, transient|infantile reversible cytochrome C oxidase deficiency myopathy|reversible infantile respiratory chain deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency OMIM:500009|UMLS:C3151898|Orphanet:254864|ICD10:G71.3 owl:Class MONDO:0009195 biolink:NamedThing erythema of acral regions tmpak2llvmy_mondo_relaxed.owl erythema of acral regions OMIM:227000 owl:Class MONDO:0005406 biolink:NamedThing gestational diabetes Carbohydrate intolerance first diagnosed during pregnancy. tmpak2llvmy_mondo_relaxed.owl diabetes in pregnancy|maternal gestational diabetes mellitus|gestational diabetes mellitus|GDM DOID:11714|NCIT:C34942|SCTID:11687002|ICD10:O24.4|EFO:0004593|MESH:D016640|UMLS:C0085207 owl:Class MONDO:0010500 biolink:NamedThing intellectual disability, X-linked, syndromic 33 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked, syndromic type 33|mental retardation, X-linked, syndromic type 33|MRXS33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic 33|X-linked syndromic intellectual disability caused by mutation in TAF1|mental retardation, X-linked, syndromic 33 UMLS:C4225418|OMIM:300966 owl:Class FOODON:03400685 biolink:NamedThing 022 tree nuts (tn) (ccpr) Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0685 http://langual.org owl:Class FOODON:03400652 biolink:NamedThing 04 nuts and seeds (ccpr) TYPE 04 - NUTS AND SEEDS Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated. The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0652 http://langual.org owl:Class MONDO:0008423 biolink:NamedThing sinus node disease and myopia tmpak2llvmy_mondo_relaxed.owl sinus node disease and myopia|Sss-myopia syndrome|sick sinus syndrome and myopia MESH:C566690|GARD:0004880|OMIM:182190|UMLS:C1866960 https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia owl:Class MONDO:0018864 biolink:NamedThing Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. tmpak2llvmy_mondo_relaxed.owl nosocomial Kikuchi's disease|Kikuchi disease|histiocytic necrotising lymphadenitis|Kikuchi-Fujimoto's disease|Kikuchi necrotizing lymphadenitis|Kikuchi's disease|histiocytic necrotizing lymphadenitis NCIT:C71719|UMLS:C0398367|MESH:D020042|Orphanet:50918|ICD10:I88.1|GARD:0006834|SCTID:127217009 owl:Class MONDO:0004020 biolink:NamedThing mediastinal gray zone lymphoma A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities. tmpak2llvmy_mondo_relaxed.owl mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|mediastinal Gray zone lymphoma DOID:6867|NCIT:C37870|UMLS:C1334657 owl:Class MONDO:0003658 biolink:NamedThing B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl Hodgkin-like anaplastic large cell lymphoma|Gray zone lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|large B-cell lymphoma with Hodgkin features|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma NCIT:C37869|GARD:0010897|ICDO:9596/3|DOID:5822|UMLS:C1333878 https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma owl:Class MONDO:0032874 biolink:NamedThing ciliary dyskinesia, primary, 43 tmpak2llvmy_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILD43|CILIARY DYSKINESIA, PRIMARY, 43 OMIM:618699 owl:Class MONDO:0044144 biolink:NamedThing panic disorder with agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. tmpak2llvmy_mondo_relaxed.owl panic disorder with agoraphobia NCIT:C97194|SCTID:35607004 owl:Class GO:0034311 biolink:NamedThing diol metabolic process The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. tmpak2llvmy_mondo_relaxed.owl dihydric alcohol metabolic process|diol metabolism owl:Class MONDO:0001929 biolink:NamedThing ascending cholangitis Acute infection of the bile ducts caused by bacteria ascending from the small intestine. tmpak2llvmy_mondo_relaxed.owl ascending cholangitis NCIT:C35372|ICD10:K83.0|DOID:14270|UMLS:C0311273|SCTID:26918003 owl:Class MONDO:0043135 biolink:NamedThing microcephaly microphthalmos blindness tmpak2llvmy_mondo_relaxed.owl MESH:C537541|GARD:0003629|UMLS:C2931526 owl:Class MONDO:0024507 biolink:NamedThing aniridia 1 tmpak2llvmy_mondo_relaxed.owl AN1|aniridia II|aniridia 1|cataract, congenital, with late-onset corneal dystrophy|aniridia II, formerly SCTID:253231007|OMIM:106210 owl:Class MONDO:0004649 biolink:NamedThing anaerobic pneumonia A pneumonia caused by anaerobic bacteria. tmpak2llvmy_mondo_relaxed.owl pneumonia due to anaerobic bacteria|pneumonia due to anaerobes|pneumonia caused by anaerobic bacteria ICD9:482.81|ICD9:482.89|SCTID:409664000|DOID:873|UMLS:C1443976 owl:Class MONDO:0020418 biolink:NamedThing dysphagia lusoria tmpak2llvmy_mondo_relaxed.owl ICD10:Q25.4|SCTID:231719009|ICD9:787.29|UMLS:C0267073|Orphanet:99082 owl:Class MONDO:0008589 biolink:NamedThing tremor of intention, ataxia, and lipofuscinosis tmpak2llvmy_mondo_relaxed.owl tremor of intention, ataxia, and lipofuscinosis UMLS:C1860872|OMIM:190200|MESH:C566038 owl:Class MONDO:0018804 biolink:NamedThing MYO5B-related progressive familial intrahepatic cholestasis tmpak2llvmy_mondo_relaxed.owl MYO5B deficiency UMLS:CN776887|Orphanet:480491 owl:Class HGNC:6138 biolink:NamedThing ITGA2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043291 biolink:NamedThing Rokitansky-Aschoff sinuses of the gallbladder An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. tmpak2llvmy_mondo_relaxed.owl intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses|Rokitansky-Aschoff sinuses MESH:C535869|GARD:0009419|SCTID:22149007|UMLS:C0267892 owl:Class HGNC:11335 biolink:NamedThing SSX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020557 biolink:NamedThing pleuropulmonary blastoma type 3 A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. tmpak2llvmy_mondo_relaxed.owl type III pleuropulmonary blastoma ICD10:C34.9|ICD10:C34.3|ICD10:C34.1|NCIT:C45628|UMLS:CN207459|ICD10:C34.2|ICD10:C34.8|Orphanet:99935|SCTID:707673006|ICD9:162.9 owl:Class MONDO:0011559 biolink:NamedThing benign recurrent intrahepatic cholestasis type 2 tmpak2llvmy_mondo_relaxed.owl BRIC2|cholestasis, benign recurrent intrahepatic, 2|cholestasis, benign recurrent intrahepatic 2|mild ABCB11 deficiency|Bric type 2|cholestasis, benign recurrent intrahepatic, type 2|recurrent familial intrahepatic cholestasis 2|benign recurrent intrahepatic cholestasis 2 MESH:C535934|ICD10:K83.1|GARD:10029|DOID:0070232|Orphanet:99961|GARD:0010029|OMIM:605479 https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 owl:Class MONDO:0018786 biolink:NamedThing pontine autosomal dominant microangiopathy with leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl PADMAL Orphanet:477749 owl:Class NCBITaxon:451868 biolink:NamedThing Pleosporomycetidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1|PMID:17486979 ncbi_taxonomy owl:Class MONDO:0009358 biolink:NamedThing Hutterite cerebroosteonephrodysplasia syndrome tmpak2llvmy_mondo_relaxed.owl Hutterite cerebroosteonephrodysplasia syndrome|cond|cerebroosteonephosis syndrome GARD:0009956|MESH:C536074|OMIM:236450|UMLS:C1856054 https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome owl:Class HP:0001967 biolink:NamedThing Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. tmpak2llvmy_mondo_relaxed.owl Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy UMLS:C0268747|MSH:C537346|SNOMEDCT_US:111406002 This finding can be demonstrated by renal biopsy. HP:0004728 human_phenotype owl:Class MONDO:0011118 biolink:NamedThing bilineal acute myeloid leukemia An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 tmpak2llvmy_mondo_relaxed.owl bilineal acute leukemia|acute bilineal leukemia ICD10:C95.0|Orphanet:98836|NCIT:C6923|UMLS:C0349680 owl:Class HGNC:4855 biolink:NamedThing HDC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010888 biolink:NamedThing endometriosis of uterus The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. tmpak2llvmy_mondo_relaxed.owl uterine corpus adenomyosis|endometriosis, myometrium|endometriosis of myometrium|myometrium endometriosis (disease)|adenomyosis of uterus|endometriosis (disease) of myometrium|adenomyosis of the uterus|uterus corpus adenomyosis|uterine adenomyosis|adenomyosis|endometriosis interna ICD9:617.0|SCTID:237115002|EFO:1001757|MESH:D062788|OMIM:600458|DOID:288|NCIT:C6996|ICD10:N80.0|UMLS:C0341858|GARD:0008156 Editor note: NCIT does not classify as a subtype of endometriosis owl:Class HGNC:10603 biolink:NamedThing SCO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005689 biolink:NamedThing cannabis dependence Physical and psychological dependence on the drug cannabis. tmpak2llvmy_mondo_relaxed.owl marijuana dependence|marijuana abuse|cannabis abuse SCTID:85005007|ICD10:F12|ICD10:F12.2|DOID:9505|SCTID:37344009|ICD9:304.3|EFO:0007191|ICD10:F12.1|MESH:D002189|DOID:1849|ICD9:304.30|NCIT:C34445|ICD9:305.2 owl:Class MONDO:0011306 biolink:NamedThing muscular dystrophy, congenital, with cerebellar atrophy tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, with cerebellar atrophy UMLS:C1864028|OMIM:603323|MESH:C566392 owl:Class MONDO:0005837 biolink:NamedThing mandibular cancer A malignant neoplasm involving the mandible tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of mandible|mandible cancer|mandibular neoplasm|malignant neoplasm of lower jaw bone|neoplasm of mandible|cancer of mandible|malignant mandible neoplasm|malignant neoplasm of inferior maxilla ICD10:C41.1|NCIT:C35178|EFO:0007356|SCTID:448668007|MESH:D008339|DOID:2338|ICD9:170.1 owl:Class MONDO:0004836 biolink:NamedThing intravascular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis UMLS:C0432529|SCTID:254738007|DOID:9603|ICD9:728.79|NCIT:C4729 owl:Class MONDO:0060733 biolink:NamedThing humerofemoral hypoplasia with radiotibial ray deficiency tmpak2llvmy_mondo_relaxed.owl humerofemoral hypoplasia with radiotibial ray deficiency|HHRRD|Hfhrtrd OMIM:618022|UMLS:CN248526 owl:Class MONDO:0005755 biolink:NamedThing equine infectious anemia Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. tmpak2llvmy_mondo_relaxed.owl UMLS:C0014661|MESH:D004859|EFO:0007263 owl:Class HGNC:4250 biolink:NamedThing GGT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007070 biolink:NamedThing adiposis dolorosa Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. tmpak2llvmy_mondo_relaxed.owl Neurolipomatosis|Adiposalgia|Dercum's disease|Dercum disease|adiposis dolorosa|lipomatosis dolorosa|adipose tissue rheumatism ICD10:E88.2|OMIM:103200|SCTID:71404003|Wikipedia:Adiposis_dolorosa|UMLS:C0001529|EFO:1000667|MESH:D000274|DOID:3928|Orphanet:36397|NCIT:C84540|ICD9:272.8|GARD:0005750|MedDRA:10001294 https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa owl:Class MONDO:0010786 biolink:NamedThing chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. tmpak2llvmy_mondo_relaxed.owl diarrhea, chronic, with villous atrophy UMLS:C1838912|ICD10:K59.1|Orphanet:1670|MESH:C564019|OMIM:520100 owl:Class MONDO:0016792 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA tmpak2llvmy_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA|OXPHOS disease due to a large-scale single deletion of mtDNA|OXPHOS disease due to a large-scale single deletion of mitochondrial DNA 2022-03-01 UMLS:CN202049|Orphanet:254767 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0033282 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 5 tmpak2llvmy_mondo_relaxed.owl MMDS5|multiple mitochondrial dysfunctions syndrome 5 UMLS:CN388855|OMIM:617613|DOID:0080274 owl:Class NCBITaxon:5799 biolink:NamedThing Eimeriidae tmpak2llvmy_mondo_relaxed.owl Eimeriids GC_ID:1 ncbi_taxonomy owl:Class HGNC:13187 biolink:NamedThing ZP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012795 biolink:NamedThing hypophosphatemic rickets and hyperparathyroidism tmpak2llvmy_mondo_relaxed.owl hypophosphatemic rickets and hyperparathyroidism OMIM:612089|MESH:C567423|UMLS:C2677524 owl:Class HP:0000083 biolink:NamedThing Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. tmpak2llvmy_mondo_relaxed.owl Renal failure in adulthood|Renal failure UMLS:C0035078|UMLS:C1839604|SNOMEDCT_US:42399005|UMLS:C1565489|MSH:D051437|SNOMEDCT_US:236423003 HP:0000084|HP:0004723 human_phenotype owl:Class HP:0011799 biolink:NamedThing Abnormality of facial soft tissue tmpak2llvmy_mondo_relaxed.owl Deformity of facial soft tissue|Malformation of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue UMLS:C4023183 peter 2012-04-23T07:27:57Z human_phenotype owl:Class MONDO:0005589 biolink:NamedThing thiopurine immunosuppressant-induced pancreatitis Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. tmpak2llvmy_mondo_relaxed.owl EFO:0006315 owl:Class ENVO:09200017 biolink:NamedThing composition of water The composition of some water. tmpak2llvmy_mondo_relaxed.owl water composition owl:Class MONDO:0016786 biolink:NamedThing partial hydatidiform mole Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. tmpak2llvmy_mondo_relaxed.owl incomplete hydatidiform mole|incomplete hydatid Mole|partial hydatid Mole|partial Mole|incomplete molar pregnancy|partial molar pregnancy|PHM ICDO:9103/0|UMLS:C0334529|NCIT:C4293|Orphanet:254693|SCTID:237250000|ONCOTREE:PHM|ICD10:O01.1 owl:Class NCBITaxon:43742 biolink:NamedThing Calyptratae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009129 biolink:NamedThing dwarfism, proportionate, with hip dislocation tmpak2llvmy_mondo_relaxed.owl dwarfism, proportionate, with hip dislocation|dwarfism, proportionate with hip dislocation UMLS:C1857196|OMIM:223550|GARD:0010606|MESH:C565614 https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation owl:Class MONDO:0010105 biolink:NamedThing teratoma, pineal tmpak2llvmy_mondo_relaxed.owl teratoma, pineal OMIM:273120|UMLS:C1848902|MESH:C537401 owl:Class MONDO:0001736 biolink:NamedThing neonatal infective mastitis tmpak2llvmy_mondo_relaxed.owl DOID:13520|SCTID:3468005|ICD9:771.5|ICD10:P39.0|UMLS:C0158948 owl:Class UBERON:0001472 biolink:NamedThing vaginal venous plexus The vaginal plexuses are placed at the sides of the vagina; they communicate with the uterine, vesical, and hemorrhoidal plexuses, and are drained by the vaginal veins, one on either side, into the hypogastric veins. [WP,unvetted]. tmpak2llvmy_mondo_relaxed.owl plexus venosus vaginalis|venous vaginal plexus owl:Class UBERON:0005652 biolink:NamedThing pedal digit 5 epithelium An epithelium that is part of a pedal digit 5. tmpak2llvmy_mondo_relaxed.owl pedal digit V epithelium|hind limb digit 5 epithelium|foot digit 5 epithelium owl:Class HGNC:28557 biolink:NamedThing KLHDC8B tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000297 biolink:NamedThing Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpak2llvmy_mondo_relaxed.owl Atony of facial musculature|Low facial muscle tone|Decreased facial muscle tone|Hypotonic facies|Reduced facial muscle tone UMLS:C4280646|UMLS:C1845251 human_phenotype owl:Class MONDO:0008448 biolink:NamedThing spheroid body myopathy Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. tmpak2llvmy_mondo_relaxed.owl myopathy, spheroid body|autosomal dominant spheroid body myopathy OMIM:182920|Orphanet:268129|ICD10:G71.8|MESH:C000598645|GARD:0008711|SCTID:765092004|UMLS:C1866785|DOID:0080091 https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy owl:Class MONDO:0011790 biolink:NamedThing Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. tmpak2llvmy_mondo_relaxed.owl thiamine metabolism dysfunction syndrome 3 (microcephaly type)|microcephaly, Amish type|MCPHA|Amish lethal microcephaly MESH:C538247|GARD:0008606|SCTID:702437000|Orphanet:99742|ICD10:Q02|UMLS:C1846648|OMIM:607196 https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly owl:Class MONDO:0019332 biolink:NamedThing punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. tmpak2llvmy_mondo_relaxed.owl keratoderma, palmoplantar punctate type 1|punctate palmoplantar keratoderma type I|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|Brauer-Buschke-Fischer syndrome|Buschke-Fischer-Brauer syndrome|type I punctate palmoplantar keratoderma|PPKP1 GARD:0003103|Orphanet:79501|UMLS:CN205995|ICD10:Q82.8|SCTID:717184007 owl:Class GO:0099738 biolink:NamedThing cell cortex region The complete extent of cell cortex that underlies some some region of the plasma membrane. tmpak2llvmy_mondo_relaxed.owl perimembrane region owl:Class MONDO:0011723 biolink:NamedThing hemifacial myohyperplasia Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. tmpak2llvmy_mondo_relaxed.owl hemifacial myohyperplasia|HMH|hypertrophy and asymmetry of the facial muscles SCTID:699420006|Orphanet:141148|MESH:C535862|ICD9:744.89|OMIM:606773|GARD:0010084|ICD10:Q67.4 https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia owl:Class MONDO:0016847 biolink:NamedThing trisomy 1q Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. tmpak2llvmy_mondo_relaxed.owl Duplication 1q|trisomy type 1q SCTID:768927001|ICD10:Q92.2|Orphanet:261344 owl:Class MONDO:0043129 biolink:NamedThing merlob grunebaum reisner syndrome tmpak2llvmy_mondo_relaxed.owl familial opposable triphalangeal thumbs associated with duplication of the big toes MESH:C537461|GARD:0003545|UMLS:C2931499 owl:Class HGNC:10561 biolink:NamedThing ATXN8OS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017499 biolink:NamedThing congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. tmpak2llvmy_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, bilateral ICD10:Q71.23|ICD10:Q71.2|Orphanet:295095 owl:Class MONDO:0017443 biolink:NamedThing congenital absence of both forearm and hand Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. tmpak2llvmy_mondo_relaxed.owl radio-ulnar terminal transverse meromelia ICD10:Q71.2|Orphanet:294979 owl:Class HGNC:18466 biolink:NamedThing RNASEH1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007217 biolink:NamedThing brachydactyly type A3 tmpak2llvmy_mondo_relaxed.owl Brachymesophalangy 5|brachydactyly-clinodactyly|brachymesophalangy V|BDA3|brachydactyly, type A3 MESH:C537090|UMLS:C1862140|GARD:0000963|DOID:0110966|OMIM:112700 Editor note: OMIM xrefs Orphanet:93393 but this appears not to exist https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3 owl:Class MONDO:0011553 biolink:NamedThing autosomal recessive nonsyndromic deafness 26 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 26|DFNB26|autosomal recessive nonsyndromic deafness type 26|deafness, autosomal recessive 26 OMIM:605428|DOID:0110484|MESH:C565329|UMLS:C1854275|ICD10:H90.3 owl:Class MONDO:0012301 biolink:NamedThing mitochondrial DNA depletion syndrome, myopathic form Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. tmpak2llvmy_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 2|mitochondrial DNA depletion myopathy, Tk2-related|mitochondrial DNA depletion syndrome 2 (myopathic type)|mtDNA depletion syndrome, myopathic form|MTDPS2|mitochondrial DNA depletion syndrome 2 Orphanet:254875|SCTID:703527003|ICD10:G71.3|DOID:0080120|UMLS:C3501891|OMIM:609560|ICD9:359.89|MESH:C563698 owl:Class MONDO:0006842 biolink:NamedThing lymphangiomyoma A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum. tmpak2llvmy_mondo_relaxed.owl lymphangiomyoma|lymphangioleiomyoma UMLS:C0024223|EFO:1001027|NCIT:C3204|ICDO:9174/0|MESH:D008203 owl:Class MONDO:0019325 biolink:NamedThing phakomatosis cesioflammea tmpak2llvmy_mondo_relaxed.owl phakomatosis pigmentovascularis type 2 Orphanet:79483|SCTID:703284009|ICD10:Q85.8|UMLS:CN205984|ICD9:759.6 owl:Class OBO:CARO_0030000 biolink:NamedThing biological entity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018754 biolink:NamedThing cyanide poisoning tmpak2llvmy_mondo_relaxed.owl ICD10:T65.0|UMLS:CN242145|SCTID:66207005|ICD9:989.0|Orphanet:466670 owl:Class NCBITaxon:111520 biolink:NamedThing Penaeoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6684 biolink:NamedThing Dendrobranchiata tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009200 biolink:NamedThing limb epidermis The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium. tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:24402 biolink:NamedThing glycosphingolipid A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. tmpak2llvmy_mondo_relaxed.owl glycosphingolipids owl:Class MONDO:0007479 biolink:NamedThing dwarfism, Levi type tmpak2llvmy_mondo_relaxed.owl dwarfism Levi's type|snub-nosed type of dwarfism|dwarfism, Levi type|dwarfism Levi type MESH:C565081|OMIM:127100|UMLS:C1851994|GARD:0006294 https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type owl:Class MONDO:0100002 biolink:NamedThing food protein-induced allergic proctocolitis A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins. tmpak2llvmy_mondo_relaxed.owl milk protein proctocololitis|allergic proctocolitis|FPIPC 2018-03-14 03:32:19+00:00 owl:Class MONDO:0019778 biolink:NamedThing Smith-Fineman-Myers syndrome Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpak2llvmy_mondo_relaxed.owl Smith Fineman Myers syndrome|mental retardation Smith Fineman Myers type|intellectual disability Smith Fineman Myers type UMLS:C0796159|GARD:0003521|SCTID:719212004|MESH:C537445|Orphanet:93974 owl:Class UBERON:0036285 biolink:NamedThing wall of left ventricle Wall of ventricle which is continuous with the wall of aorta. tmpak2llvmy_mondo_relaxed.owl left ventricular wall owl:Class NCBITaxon:134362 biolink:NamedThing Capnodiales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0036918 biolink:NamedThing punctate acrokeratoderma freckle-like pigmentation tmpak2llvmy_mondo_relaxed.owl Orphanet:99710 owl:Class MONDO:0013330 biolink:NamedThing agenesis of the corpus callosum and congenital lymphedema tmpak2llvmy_mondo_relaxed.owl agenesis of the corpus callosum and congenital lymphedema OMIM:613623|UMLS:C3150887 owl:Class CL:1001045 biolink:NamedThing kidney cortex artery cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001077 cell owl:Class CL:1000891 biolink:NamedThing kidney arterial blood vessel cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001029 cell owl:Class MONDO:0024249 biolink:NamedThing pityriasis lichenoides A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica). tmpak2llvmy_mondo_relaxed.owl Pityriasis Lichenoides, chronic|parapsoriasis en gouttes|Pityriasis Lichenoides|Pityriasis Lichenoides, acute|Pityriasis Lichenoides et Varioliformis Acuta|acute Pityriasis Lichenoides|Pityriasis Lichenoides chronica|chronic Pityriasis Lichenoides|parapsoriasis guttata|pityriasis lichenoides SCTID:200983001|GARD:0010265|MESH:D017514|NCIT:C85013 owl:Class MONDO:0042964 biolink:NamedThing Machado-Joseph disease type 4 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. tmpak2llvmy_mondo_relaxed.owl azorean disease, type iv UMLS:C0686352|ICD9:334.3|SCTID:91956006 owl:Class MONDO:0014170 biolink:NamedThing complex cortical dysplasia with other brain malformations 3 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. tmpak2llvmy_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations 3|complex cortical dysplasia with other brain malformations type 3|KIF2A complex cortical dysplasia with other brain malformations|CDCBM3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|cortical dysplasia, Complex, with Other brain malformations type 3 DOID:0090134|UMLS:C3809414|OMIM:615411 owl:Class MONDO:0011597 biolink:NamedThing atopic dermatitis 3 An atopic dermatitis associated with variation in the region 20p. tmpak2llvmy_mondo_relaxed.owl atopic dermatitis with asthma|atopic dermatitis type 3|dermatitis, Atopic, with asthma|dermatitis, ATOPIC, 3|ATOD3 MESH:C565292|DOID:0110099|OMIM:605804|UMLS:C1853964 owl:Class MONDO:0012218 biolink:NamedThing dandy-walker malformation with occipital cephalocele, autosomal dominant tmpak2llvmy_mondo_relaxed.owl ADDWOC|Dandy-Walker malformation with occipital cephalocele, autosomal dominant OMIM:609222|MESH:C567185|UMLS:C2674987 owl:Class MONDO:0022859 biolink:NamedThing cor biloculare A congenital anatomic anomaly in which the heart has only two chambers. tmpak2llvmy_mondo_relaxed.owl TWO-chambered heart|Cor Biloculare|absence of atrial and ventricular septa|cor biloculare ICD9:745.7|UMLS:C0152238|SCTID:81990004|GARD:0006193|NCIT:C124591 https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare owl:Class MONDO:0012956 biolink:NamedThing multiple sclerosis, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl MS2|multiple sclerosis, susceptibility to, 2 OMIM:612594 owl:Class ENVO:01001284 biolink:NamedThing barium dust Dust which is primarily composed of barium particles. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015559 biolink:NamedThing lymphoadenopathic mastocytosis with eosinophilia tmpak2llvmy_mondo_relaxed.owl Orphanet:158793|ICD10:C96.2 owl:Class MONDO:0020333 biolink:NamedThing aggressive systemic mastocytosis Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues. tmpak2llvmy_mondo_relaxed.owl ASM|lymphadenopathic mastocytosis with eosinophilia|aggressive systemic mastocytosis (morphologic abnormality) ICD10:C96.2|MedDRA:10056453|DOID:4798|SCTID:716655008|Orphanet:98850|ONCOTREE:ASM|NCIT:C9285|ICDO:9741/3|UMLS:C1112486 owl:Class MONDO:0018319 biolink:NamedThing familial episodic pain syndrome tmpak2llvmy_mondo_relaxed.owl FEPS DOID:0111728|OMIMPS:615040|UMLS:CN228162|GARD:0012684|ICD10:M79.6|Orphanet:391384|UMLS:CN204967 https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome owl:Class HGNC:6383 biolink:NamedThing KNG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100395 biolink:NamedThing acute myeloid leukemia, t(5;11)(q35;p15) Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.) tmpak2llvmy_mondo_relaxed.owl AML, t(5;11)(q35;p15) NCIT:C131502 owl:Class MONDO:0044903 biolink:NamedThing myelofibrosis A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 tmpak2llvmy_mondo_relaxed.owl myelofibrosis NCIT:C3248 owl:Class MONDO:0033561 biolink:NamedThing deeah syndrome tmpak2llvmy_mondo_relaxed.owl DEEAH|DEEAH SYNDROME|Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities OMIM:619004 owl:Class MONDO:0011556 biolink:NamedThing basal cell carcinoma, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma, multiple|multiple basal cell carcinoma|BCC1|basal cell carcinoma, nonsyndromic|basal cell carcinoma, susceptibility to, 1 GARD:0009303|OMIM:605462 owl:Class MONDO:0012902 biolink:NamedThing autosomal dominant nonsyndromic deafness 27 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1. tmpak2llvmy_mondo_relaxed.owl DFNA27|deafness, autosomal dominant 27|autosomal dominant nonsyndromic deafness type 27|autosomal dominant deafness 27 DOID:0110556|ICD10:H90.3|OMIM:612431 owl:Class MONDO:0008370 biolink:NamedThing reticular dystrophy of retinal pigment epithelium tmpak2llvmy_mondo_relaxed.owl reticular dystrophy of retinal pigment epithelium MESH:C566721|UMLS:C1867332|SCTID:723502001|OMIM:179840 owl:Class MONDO:0009979 biolink:NamedThing reticular dystrophy of the retinal pigment epithelium Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. tmpak2llvmy_mondo_relaxed.owl retinal dystrophy, reticular pigmentary, of POSTERIOR POLE ICD10:H35.5|MESH:C564844|Orphanet:99002|OMIM:267800 owl:Class FOODON:00002507 biolink:NamedThing taurine cattle Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle. tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:00000016 biolink:NamedThing sea A large expanse of saline water usually connected with an ocean. tmpak2llvmy_mondo_relaxed.owl open sound|sea|Sea|marginal sea|open sea|open water|closed sea|channel owl:Class MONDO:0013070 biolink:NamedThing spermatogenic failure 7 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 7|spermatogenic failure type 7|SPGF7|Male infertility, nonsyndromic, autosomal recessive DOID:0070173|UMLS:C2751811|OMIM:612997|MESH:C567832 owl:Class MONDO:0032787 biolink:NamedThing holoprosencephaly 12 with or without pancreatic agenesis tmpak2llvmy_mondo_relaxed.owl HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS|HPE12 OMIM:618500 owl:Class CHEBI:33661 biolink:NamedThing monocyclic compound tmpak2llvmy_mondo_relaxed.owl monocyclic compounds owl:Class MONDO:0009421 biolink:NamedThing hypogonadism, male tmpak2llvmy_mondo_relaxed.owl hypogonadism and testicular atrophy|hypogonadism, male SCTID:48723006|OMIM:241100|ICD9:257.2 Editor note: check OMIM owl:Class HGNC:5209 biolink:NamedThing HSD11B2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022430 biolink:NamedThing persistent fetal circulation syndrome A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. tmpak2llvmy_mondo_relaxed.owl persistent pulmonary hypertension of the newborn|persistent fetal circulation|PPHN SCTID:233815004|NCIT:C85006 Editor note: consider relationship to MONDO:0009934 owl:Class GO:0043233 biolink:NamedThing organelle lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032881 biolink:NamedThing premature ovarian failure 16 tmpak2llvmy_mondo_relaxed.owl PREMATURE OVARIAN FAILURE 16|POF16 OMIM:618723 owl:Class MONDO:0002106 biolink:NamedThing labyrinthine unilateral reactive loss tmpak2llvmy_mondo_relaxed.owl loss of labyrinthine reactivity, unilateral|unilateral loss of labyrinthine reactivity DOID:1776|ICD9:386.55|UMLS:C0155519 owl:Class MONDO:0003465 biolink:NamedThing fibrous synovial sarcoma tmpak2llvmy_mondo_relaxed.owl fibrous sarcoma of synovium|fibrous sarcoma of the synovium NCIT:C6533|DOID:5484|UMLS:C1333616 owl:Class MONDO:0017413 biolink:NamedThing Reunion island Larsen syndrome tmpak2llvmy_mondo_relaxed.owl multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome|RLS Orphanet:294049|UMLS:CN203163|ICD10:Q74.8|EFO:0002319 owl:Class MONDO:0011192 biolink:NamedThing autosomal recessive nonsyndromic deafness 18A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in USH1C|autosomal recessive deafness 18A|DFNB18A|deafness, autosomal recessive 18|USH1C autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 18A|autosomal recessive nonsyndromic deafness type 18A|deafness, autosomal recessive 18A MESH:C566580|DOID:0110473|UMLS:C1865870|ICD10:H90.3|OMIM:602092 owl:Class UBERON:0004142 biolink:NamedThing outflow tract septum The outflow tract septum is a partition in the outflow tract tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:2590 biolink:NamedThing CYP11A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001716 biolink:NamedThing corneal argyrosis tmpak2llvmy_mondo_relaxed.owl argyrosis of cornea|argentous corneal deposits DOID:13447|ICD9:371.16|SCTID:21328003|ICD10:H18.02|UMLS:C0155108 owl:Class MONDO:0000813 biolink:NamedThing cardiac tuberculosis Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. tmpak2llvmy_mondo_relaxed.owl cardiovascular tuberculosis DOID:0060570|UMLS:C0041308|EFO:1001442|MESH:D014381 owl:Class CL:0002134 biolink:NamedThing stromal cell of ovarian medulla A stromal cell of the ovarian medulla. tmpak2llvmy_mondo_relaxed.owl FMA:256171 tmeehan 2010-08-23T12:12:17Z cell owl:Class MONDO:0030989 biolink:NamedThing spermatogenic failure 53 tmpak2llvmy_mondo_relaxed.owl SPGF53|spermatogenic failure 53 OMIM:619258 owl:Class MONDO:0029148 biolink:NamedThing spermatogenic failure 34 tmpak2llvmy_mondo_relaxed.owl SPGF34|SPERMATOGENIC FAILURE 34 OMIM:618153 owl:Class MONDO:0019729 biolink:NamedThing light and heavy chain deposition disease tmpak2llvmy_mondo_relaxed.owl LHCDD Orphanet:93557|UMLS:CN206636|ICD10:D89.8 owl:Class HGNC:9457 biolink:NamedThing PLPBP tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0009906 biolink:NamedThing root of optic nerve A nerve root that extends_fibers_into a nerve connecting eye with brain. tmpak2llvmy_mondo_relaxed.owl optic nerve root|optic tract root|root of optic tract owl:Class MONDO:0033554 biolink:NamedThing immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia tmpak2llvmy_mondo_relaxed.owl IMD73B|immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia OMIM:618986 owl:Class MONDO:0013683 biolink:NamedThing vesicoureteral reflux 5 tmpak2llvmy_mondo_relaxed.owl VUR5|vesicoureteral reflux 5 UMLS:C3280440|OMIM:614318 owl:Class MONDO:0000395 biolink:NamedThing alcohol-related birth defect A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. tmpak2llvmy_mondo_relaxed.owl alcohol related birth defect|ARBD DOID:0050668|NCIT:C92727|UMLS:C3146244 owl:Class NCBITaxon:7088 biolink:NamedThing Lepidoptera tmpak2llvmy_mondo_relaxed.owl moths|butterflies and moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100160 biolink:NamedThing alcoholic ketoacidosis An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae. tmpak2llvmy_mondo_relaxed.owl alcoholic acidosis|alcoholic ketosis In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. owl:Class MONDO:0016852 biolink:NamedThing paternal uniparental disomy of chromosome X tmpak2llvmy_mondo_relaxed.owl UPD(X)pat|paternal uniparental disomy of chromosome type X ICD10:Q99.8|Orphanet:261524 owl:Class GO:0046700 biolink:NamedThing heterocycle catabolic process The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpak2llvmy_mondo_relaxed.owl heterocycle catabolism|heterocycle breakdown|heterocycle degradation owl:Class MONDO:0018816 biolink:NamedThing isolated neonatal sclerosing cholangitis Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. tmpak2llvmy_mondo_relaxed.owl sclerosing cholangitis, neonatal|NSC UMLS:C4479344|Orphanet:480556|OMIM:617394 owl:Class MONDO:0020392 biolink:NamedThing discrete fixed membranous subaortic stenosis tmpak2llvmy_mondo_relaxed.owl Orphanet:99051|ICD10:Q24.4 owl:Class MONDO:0024488 biolink:NamedThing tumor grading characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008363 biolink:NamedThing raindrop hypopigmentation tmpak2llvmy_mondo_relaxed.owl raindrop hypopigmentation MESH:C566724|OMIM:179500 owl:Class NCBITaxon:37567 biolink:NamedThing Ditrysia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030017 biolink:NamedThing combined oxidative phosphorylation deficiency 43 tmpak2llvmy_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43|combined oxidative phosphorylation deficiency 43|COXPD43 OMIM:618851 owl:Class CHEBI:25701 biolink:NamedThing organic oxide An oxide in which the oxygen atom is bonded to a carbon atom. tmpak2llvmy_mondo_relaxed.owl organic oxides owl:Class MONDO:0033810 biolink:NamedThing isolated iridoschisis tmpak2llvmy_mondo_relaxed.owl Orphanet:519392 owl:Class MONDO:0022803 biolink:NamedThing coloboma porencephaly hydronephrosis tmpak2llvmy_mondo_relaxed.owl GARD:0001439 https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis owl:Class MONDO:0005262 biolink:NamedThing central nervous system cyst A congenital or acquired cyst that is present in the central nervous system. tmpak2llvmy_mondo_relaxed.owl cysts, suprasellar|cleft cysts, Rathke's|cysts, central nervous system|cysts, Rathke cleft|cyst of CNS|Rathke cleft cysts|suprasellar cyst|Rathkes cleft cysts|cyst, suprasellar|CNS cyst|Rathke's cleft cysts|cyst of the CNS|suprasellar cysts|central nervous system cyst|cyst of the Central nervous system|central nervous system cyst (disease)|cyst of Central nervous system central nervous system cyst (disease) EFO:0003760|NCIT:C4657|HP:0030724|UMLS:C0349606|MESH:D020863|SCTID:277333006 owl:Class MONDO:0013897 biolink:NamedThing Loeys-Dietz syndrome 4 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. tmpak2llvmy_mondo_relaxed.owl Loeys-Dietz syndrome caused by mutation in TGFB2|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|TGFB2 Loeys-Dietz syndrome|Loeys-Dietz syndrome type 4|LDS4|Loeys-Dietz syndrome 4 OMIM:614816|DOID:0070233|GARD:0010588|UMLS:C3553762 owl:Class MONDO:0017086 biolink:NamedThing primary tethered cord syndrome Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. tmpak2llvmy_mondo_relaxed.owl segmental vertebral anomalies|primary tethered spinal cord syndrome|occult spinal dysraphism sequence|occult spinal dysraphism|tethered cord syndrome Orphanet:268861|UMLS:CN202446|GARD:0004018|SCTID:70534000 owl:Class MONDO:0024520 biolink:NamedThing renal hypodysplasia/aplasia 3 tmpak2llvmy_mondo_relaxed.owl renal hypodysplasia/aplasia 3|RHDA3 EFO:0009137|UMLS:CN703737|OMIM:617805 owl:Class HGNC:9039 biolink:NamedThing PLA2G6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014799 biolink:NamedThing cataract 45 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. tmpak2llvmy_mondo_relaxed.owl cataract type 45|CTRCT45|cataract 45|SIPA1L3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in SIPA1L3 UMLS:C4225182|DOID:0110262|ICD10:Q12.0|OMIM:616851 owl:Class MONDO:0016014 biolink:NamedThing fetal minoxidil syndrome Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. tmpak2llvmy_mondo_relaxed.owl minoxidil antenatal infection|minoxidil antenatal exposure ICD10:Q86.8|ICD9:760.79|UMLS:C0432373|GARD:0002308|Orphanet:1918|SCTID:254251003 https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome owl:Class HP:0033747 biolink:NamedThing Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. tmpak2llvmy_mondo_relaxed.owl 2021-04-21 10:58:44+00:00 peter human_phenotype owl:Class MONDO:0007457 biolink:NamedThing diastema, dental medial tmpak2llvmy_mondo_relaxed.owl diastema, dental medial OMIM:125900|MESH:C565098 owl:Class NCBITaxon:6032 biolink:NamedThing Apansporoblastina tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0033401 biolink:NamedThing Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. tmpak2llvmy_mondo_relaxed.owl 2021-01-09 15:02:58+00:00 peter human_phenotype owl:Class MONDO:0022946 biolink:NamedThing deafness progressive cataract autosomal dominant tmpak2llvmy_mondo_relaxed.owl GARD:0001702 https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant owl:Class HGNC:9067 biolink:NamedThing PLD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004413 biolink:NamedThing cervical non-keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. tmpak2llvmy_mondo_relaxed.owl NCIT:C40188|UMLS:C1518366|DOID:7961 owl:Class MONDO:0017932 biolink:NamedThing muscular hypertrophy-hepatomegaly-polyhydramnios syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204070|Orphanet:324416 owl:Class GO:0002790 biolink:NamedThing peptide secretion The controlled release of a peptide from a cell or a tissue. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004145 biolink:NamedThing meningothelial meningioma A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. tmpak2llvmy_mondo_relaxed.owl meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma EFO:1000372|UMLS:C0334605|DOID:7212|NCIT:C4329|ICDO:9531/0 owl:Class MONDO:0004439 biolink:NamedThing periocular meningioma A meningioma that affects the periocular region. tmpak2llvmy_mondo_relaxed.owl NCIT:C6777|DOID:8030|UMLS:C1335383 owl:Class MONDO:0060550 biolink:NamedThing polydactyly, postaxial, type a7 tmpak2llvmy_mondo_relaxed.owl polydactyly, postaxial, type A7|PAPA7 OMIM:617642 owl:Class MONDO:0049223 biolink:NamedThing osteogenesis imperfecta, type 19 tmpak2llvmy_mondo_relaxed.owl OI19|osteogenesis imperfecta, type XIX UMLS:CN252653|OMIM:301014 owl:Class NCBITaxon:90339 biolink:NamedThing Rhinosporidium seeberi tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:90338 biolink:NamedThing Rhinosporidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:9305 biolink:NamedThing PPP2R2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012492 biolink:NamedThing restless legs syndrome, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl RLS3|restless legs syndrome, susceptibility to, 3 GARD:0010270|OMIM:610438 owl:Class NCBITaxon:2731363 biolink:NamedThing Herviviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100111 biolink:NamedThing focal segmental glomerulosclerosis and neurodevelopmental syndrome A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. tmpak2llvmy_mondo_relaxed.owl FSGSNEDS OMIM:619428 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3530 owl:Class HGNC:7462 biolink:NamedThing MT-ND6 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001191 biolink:NamedThing water surface The surface layer of a volume of water. tmpak2llvmy_mondo_relaxed.owl surface of a body of water|water body surface owl:Class HGNC:16035 biolink:NamedThing STRC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002582 biolink:NamedThing subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. tmpak2llvmy_mondo_relaxed.owl SCTID:302855005|UMLS:C0153924|DOID:3264|ICD9:208.2|ICD9:208.20 owl:Class MONDO:0020205 biolink:NamedThing bulbar conjunctival dermoid or conjunctival dermolipoma tmpak2llvmy_mondo_relaxed.owl Orphanet:98617 owl:Class MONDO:0019596 biolink:NamedThing 46,XY disorder of sex development due to testicular steroidogenesis defect tmpak2llvmy_mondo_relaxed.owl 46,XY DSD due to testicular steroidogenesis defect 2022-03-01 ICD10:E29.1|UMLS:CN227658|Orphanet:90787 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0017484 biolink:NamedThing femoral agenesis/hypoplasia, unilateral tmpak2llvmy_mondo_relaxed.owl femoral intercalary meromelia, unilateral Orphanet:295065|ICD10:Q72.4 owl:Class MONDO:0010231 biolink:NamedThing intellectual disability, X-linked 20 tmpak2llvmy_mondo_relaxed.owl MRX20|intellectual disability, X-linked 20|mental retardation, X-linked 20 UMLS:C0796226|MESH:C563142|OMIM:300047 owl:Class UBERON:0002148 biolink:NamedThing locus ceruleus The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. tmpak2llvmy_mondo_relaxed.owl nucleus caeruleus|locus cinereus|loci coeruleus|nucleus of locus caeruleus|substantia ferruginea|locus coeruleus (Vicq d'Azyr)|caerulean nucleus|locus caeruleus|nucleus loci caerulei|locus coeruleu|blue nucleus|locus coeruleus|nucleus pigmentosus pontis owl:Class HGNC:2183 biolink:NamedThing VPS13B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002763 biolink:NamedThing urethral verrucous carcinoma A verrucous carcinoma that involves the urethra. tmpak2llvmy_mondo_relaxed.owl urethra verrucous carcinoma|urethral verrucous carcinoma UMLS:C1519827|DOID:3749|NCIT:C39874 owl:Class MONDO:0009014 biolink:NamedThing cornea plana 2 Any cornea plana in which the cause of the disease is a mutation in the KERA gene. tmpak2llvmy_mondo_relaxed.owl cornea plana caused by mutation in KERA|cornea plana 2|cornea plana type 2|CNA2|cornea plana 2, autosomal recessive|KERA cornea plana UMLS:C1857574|MESH:C565677|OMIM:217300 owl:Class UBERON:0010534 biolink:NamedThing primitive mesonephric nephron Anatomical cluster which give rise to mature mesonephric nephrons. Zebrafish continously generate new mesonephric nephrons. tmpak2llvmy_mondo_relaxed.owl developing mesonephric nephron|primitive mesonephric nephron owl:Class MONDO:0007287 biolink:NamedThing cataract 41 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene. tmpak2llvmy_mondo_relaxed.owl congenital nuclear type cataract 41|cataract 41, congenital nuclear type|cataract 41|cataract type 41|WFS1 early-onset non-syndromic cataract|CTRCT41|early-onset non-syndromic cataract caused by mutation in WFS1 ICD10:Q12.0|OMIM:116400|DOID:0110241|UMLS:C3805412 owl:Class MONDO:0030314 biolink:NamedThing inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive|IBD31 OMIM:619398 owl:Class GO:0016421 biolink:NamedThing CoA carboxylase activity Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008530 biolink:NamedThing teeth, odd shapes of tmpak2llvmy_mondo_relaxed.owl teeth, odd shapes of|conical teeth, multiple|Lobodontia UMLS:C1861274|MESH:C566076|OMIM:187000 owl:Class MONDO:0007904 biolink:NamedThing median nodule of the upper lip Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. tmpak2llvmy_mondo_relaxed.owl LIP, MEDIAN NODULE of upper GARD:0003440|SCTID:722034006|UMLS:C1835396|ICD10:Q18.8|OMIM:151630|Orphanet:2699 https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip owl:Class NCBITaxon:3758 biolink:NamedThing Prunus domestica tmpak2llvmy_mondo_relaxed.owl Prunus domestica subsp. intermedia|plum GC_ID:1 NCBITaxon:114938 ncbi_taxonomy owl:Class HP:0100512 biolink:NamedThing Low levels of vitamin D A reduced concentration of Vitamin D. tmpak2llvmy_mondo_relaxed.owl Vitamin D deficiency|Deficient in vitamin D UMLS:C0042870|SNOMEDCT_US:34713006|MSH:D014808 doelkens 2010-12-17T06:19:35Z human_phenotype owl:Class UBERON:0007652 biolink:NamedThing esophageal sphincter A sphincter that is part of an esophagus. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8002 biolink:NamedThing NRL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001007 biolink:NamedThing chronic meningitis Chronic form of meningitis (disease). tmpak2llvmy_mondo_relaxed.owl chronic meningitis (disease)|meningitis (disease), chronic UMLS:C0154653|SCTID:21664006|ICD9:322.2|DOID:10341|ICD10:G03.1 owl:Class HP:0010460 biolink:NamedThing Abnormality of the female genitalia Abnormality of the female genital system. tmpak2llvmy_mondo_relaxed.owl UMLS:C4023820 Abnormality of the female internal or external genitalia. peter 2009-09-15T08:32:09Z human_phenotype owl:Class MONDO:0022500 biolink:NamedThing arthrogryposis multiplex congenita CNS calcification A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. tmpak2llvmy_mondo_relaxed.owl GARD:0000785 https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification owl:Class MONDO:0044626 biolink:NamedThing female infertility due to oocyte meiotic arrest tmpak2llvmy_mondo_relaxed.owl Orphanet:488191 owl:Class GO:1902221 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. tmpak2llvmy_mondo_relaxed.owl erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism owl:Class NCBITaxon:310911 biolink:NamedThing Amdoparvovirus tmpak2llvmy_mondo_relaxed.owl Amdovirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005531 biolink:NamedThing morphine dependence Strong dependence, both physiological and emotional, upon morphine. tmpak2llvmy_mondo_relaxed.owl EFO:0005612|DOID:2560|SCTID:231479000|MESH:D009021 owl:Class MONDO:0011148 biolink:NamedThing Spondylospinal thoracic dysostosis Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. tmpak2llvmy_mondo_relaxed.owl spondylospinal thoracic dysostosis MESH:C566622|GARD:0010571|OMIM:601809|UMLS:C1866184 https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis owl:Class MONDO:0022985 biolink:NamedThing diffuse cavernous hemangioma of the rectum tmpak2llvmy_mondo_relaxed.owl cavernous haemangioma of the rectum GARD:0010750 https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum owl:Class MONDO:0006889 biolink:NamedThing paraphimosis A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. tmpak2llvmy_mondo_relaxed.owl UMLS:C0030483|SCTID:13758004|MedDRA:10033890|MESH:D010263|ICD10:N47.2|NCIT:C34893|EFO:1001086|DOID:5334 owl:Class MONDO:0007722 biolink:NamedThing heterochromia iridis tmpak2llvmy_mondo_relaxed.owl heterochromia iridis|heterochromia iridis (disease) heterochromia iridis (disease) OMIM:142500|MESH:C538115|HP:0001100 owl:Class MONDO:0040698 biolink:NamedThing subacute bursitis tmpak2llvmy_mondo_relaxed.owl subacute bursitis SCTID:109298000|UMLS:C1290159 owl:Class MONDO:0022712 biolink:NamedThing oculo digital syndrome tmpak2llvmy_mondo_relaxed.owl Chemke Oliver Mallek syndrome|Chemke-Oliver-Mallek syndrome|multiple ophthalmic anomalies and digital hypoplasia UMLS:C2931063|GARD:0004025|MESH:C535922 https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome owl:Class HGNC:23068 biolink:NamedThing TRAPPC2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6267 biolink:NamedThing Anisakidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:33257 ncbi_taxonomy owl:Class MONDO:0032526 biolink:NamedThing spinocerebellar ataxia 48 tmpak2llvmy_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA 48|SCA48 OMIM:618093|DOID:0111746 owl:Class MONDO:0011709 biolink:NamedThing split hand-foot malformation 5 Split-hand/foot malformation mapped to chromosome 2q31. tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation 5|SHFM5|split-hand/foot malformation type 5|split hand-foot malformation type 5 UMLS:C1847622|OMIM:606708|DOID:0090022|NCIT:C75002|ICD10:Q71.6|MESH:C564674 owl:Class MONDO:0032804 biolink:NamedThing ectodermal dysplasia 15, hypohidrotic/hair type tmpak2llvmy_mondo_relaxed.owl ECTD15|ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE DOID:0111651|OMIM:618535 owl:Class MONDO:0018357 biolink:NamedThing neonatal antiphospholipid syndrome tmpak2llvmy_mondo_relaxed.owl neonatal Hughes syndrome|neonatal antiphospholipid antibody syndrome UMLS:CN226098|ICD10:D68.6|Orphanet:398097 owl:Class MONDO:0044326 biolink:NamedThing developmental delay and seizures with or without movement abnormalities DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}). tmpak2llvmy_mondo_relaxed.owl DEDSM|developmental delay and seizures with or without movement abnormalities UMLS:CN769090|DOID:0080473|OMIM:617836 owl:Class MONDO:0024536 biolink:NamedThing glucocorticoid deficiency 1 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. tmpak2llvmy_mondo_relaxed.owl ACTH resistance|familial glucocorticoid deficiency caused by mutation in MC2R|GCCD1|glucocorticoid deficiency 1|familial glucocorticoid deficiency 1|adrenal unresponsiveness to ACTH|MC2R familial glucocorticoid deficiency DOID:0080621|UMLS:C1859974|OMIM:202200 owl:Class HGNC:14357 biolink:NamedThing MMP21 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001484 biolink:NamedThing paranoid schizophrenia A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. tmpak2llvmy_mondo_relaxed.owl paraphrenic schizophrenia|paranoid type schizophrenia subchronic state|chronic paranoid schizophrenia|paraphrenia - late|paranoid type schizophrenia ICD9:295.30|ICD9:295.31|ICD10:F20.0|MESH:D012563|DOID:1229|ICD9:295.32|NCIT:C35006|ICD9:295.3|SCTID:31658008 owl:Class MONDO:0012889 biolink:NamedThing sarcoidosis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl sarcoidosis, susceptibility to, 3|SS3 OMIM:612388 owl:Class MONDO:0009193 biolink:NamedThing epithelial squamous dysplasia, keratinizing desquamative, of urinary tract tmpak2llvmy_mondo_relaxed.owl epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MESH:C565584|UMLS:C1856902|OMIM:226985 owl:Class MONDO:0019889 biolink:NamedThing distal trisomy 22q Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. tmpak2llvmy_mondo_relaxed.owl distal trisomy type 22q|telomeric duplication 22q|distal duplication 22q|trisomy 22qter Orphanet:96109|SCTID:764512003|ICD10:Q92.3 owl:Class MONDO:0100073 biolink:NamedThing methicillin-resistant staphylococcus aureus infectious disease Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins. tmpak2llvmy_mondo_relaxed.owl MRSA http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0018120 biolink:NamedThing right renal medulla interstitium A renal medulla interstitium that is part of a right kidney. tmpak2llvmy_mondo_relaxed.owl medullary interstitial tissue of right kidney owl:Class MONDO:0006592 biolink:NamedThing parapsoriasis Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. tmpak2llvmy_mondo_relaxed.owl parapsoriasis en plaque|digitate dermatosis GARD:0007328|SCTID:88233000|NCIT:C3312|ICD10:L41.9|ICD9:696.2|DOID:9088|ICD10:L41|UMLS:C0030491|MESH:D010267|EFO:1000747|Wikipedia:Parapsoriasis https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis owl:Class UBERON:2001364 biolink:NamedThing hemal spine Hemal spines are extensions of hemal arches in the ventral skeletogenous septum of the caudal region. tmpak2llvmy_mondo_relaxed.owl hémacanthe|épine hémale|haemacanthe|haemal spine owl:Class MONDO:0004369 biolink:NamedThing renal infectious disease tmpak2llvmy_mondo_relaxed.owl ICD9:590.9|ICD9:590|ICD10:N15.9|DOID:782 owl:Class MONDO:0008781 biolink:NamedThing juvenile amyotrophic lateral sclerosis with dementia A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. tmpak2llvmy_mondo_relaxed.owl ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex UMLS:C1859806|DOID:0110067|OMIM:205200|MESH:C565956 owl:Class NCBITaxon:52281 biolink:NamedThing Sarcoptidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83158 biolink:NamedThing Sarcoptoidea tmpak2llvmy_mondo_relaxed.owl Listrophoroidea|Psoroptoidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100401 biolink:NamedThing acute myeloid leukemia, del(5q31-q32) Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.) tmpak2llvmy_mondo_relaxed.owl AML, del(5)(q31-q32)|AML, 5q31-32 Deletion|AML, del(5q31-q32)|AML, del(5)(q31q32) owl:Class HGNC:25360 biolink:NamedThing DDX59 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0004265 biolink:NamedThing outflow tract myocardium A myocardium that is part of a outflow tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl myocardium of outflow tract|heart myocardium of outflow tract|heart muscle of outflow tract|outflow tract heart muscle|cardiac muscle of outflow tract|muscle of heart of outflow tract|outflow tract heart myocardium|outflow tract cardiac muscle|outflow tract muscle of heart owl:Class GO:0098976 biolink:NamedThing excitatory chemical synaptic transmission Synaptic transmission that results in an excitatory postsynaptic potential. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0035827 biolink:NamedThing right adrenal gland cortex the thick outer layer of the adrenal gland that is in the right side of the abdomen tmpak2llvmy_mondo_relaxed.owl cortex of right adrenal gland|right adrenal cortex|cortex of right suprarenal gland owl:Class NCBITaxon:5765 biolink:NamedThing Vahlkampfiidae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2601530 biolink:NamedThing Eutetramitia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:26738 biolink:NamedThing sphingenine A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration. tmpak2llvmy_mondo_relaxed.owl sphingenines owl:Class HGNC:3402 biolink:NamedThing EPHX2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11733 biolink:NamedThing TEX11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020411 biolink:NamedThing aorto-left ventricular tunnel tmpak2llvmy_mondo_relaxed.owl ICD10:Q20.8|Orphanet:99071 owl:Class MONDO:0011092 biolink:NamedThing ribbing disease Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. tmpak2llvmy_mondo_relaxed.owl ribbing disease|diaphyseal sclerosis, multiple|multiple diaphyseal sclerosis|hereditary multiple diaphyseal sclerosis UMLS:C1832273|GARD:0008494|MESH:C537613|OMIM:601477 https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease owl:Class MONDO:0000884 biolink:NamedThing myeloid and lymphoid neoplasms associated with FGFR1 abnormalities tmpak2llvmy_mondo_relaxed.owl DOID:0080167 Editor note: check relation to MONDO:0007844 owl:Class MONDO:0006624 biolink:NamedThing overactive bladder Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. tmpak2llvmy_mondo_relaxed.owl overactive bladder|overactive bladder (disease) overactive bladder (disease) MedDRA:10020853|HP:0000012|EFO:1000781|MESH:D053201|SCTID:236633002|ICD9:596.51 owl:Class GO:0062149 biolink:NamedThing detection of stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6278 biolink:NamedThing KCNK3 tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:8000013 biolink:NamedThing reasoned ontology module An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available. tmpak2llvmy_mondo_relaxed.owl reasoned ontology module owl:Class MONDO:0002696 biolink:NamedThing Sertoli cell tumor A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. tmpak2llvmy_mondo_relaxed.owl tubular androblastoma NOS (morphologic abnormality)|Sertoli cell tumor|tubular androblastoma NCIT:C39976|MESH:D012707|ICDO:8640/1|DOID:3577|ICDO:8630/1|UMLS:C0036769 owl:Class MONDO:0015585 biolink:NamedThing cryptogenic late-onset epileptic spasms Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. tmpak2llvmy_mondo_relaxed.owl late-onset infantile spasms Orphanet:163708 owl:Class MONDO:0025030 biolink:NamedThing digital dermatitis in cattle Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. tmpak2llvmy_mondo_relaxed.owl bovine foot Warts|Ovine digital dermatitis|bovine hairy footwart|dermatitis, bovine digital|hairy footwarts, bovine|digital Dermatitides|Ovine digital Dermatitides|digital dermatitis, papillomatous|papillomatous digital Dermatitides|footwarts, bovine hairy|digital dermatitis, bovine|papillomatosis, digital|Papillomatoses, digital|bovine digital dermatitis|digital Dermatitides, papillomatous|bovine digital Dermatitides|digital Dermatitides, bovine|hairy footwart, bovine|digital Dermatitides, Ovine|digital Papillomatoses|Dermatitides, bovine digital|papillomatous digital dermatitis|foot Warts, bovine|Dermatitides, digital|bovine foot wart|digital dermatitis, Ovine|foot wart, bovine|bovine hairy footwarts|digital papillomatosis|Warts, bovine foot|wart, bovine foot|dermatitis, digital|footwart, bovine hairy MESH:D058066 owl:Class MONDO:0006977 biolink:NamedThing spermatocele A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. tmpak2llvmy_mondo_relaxed.owl MESH:D013088|ICD10:N50.3|ICD10:N43.40|DOID:11997|ICD9:608.1|SCTID:49263001|ICD10:N43.4|EFO:1001189|MedDRA:10041490|UMLS:C0037859 owl:Class MONDO:0023007 biolink:NamedThing Drachtman Weinblatt Sitarz syndrome A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus. tmpak2llvmy_mondo_relaxed.owl Drachtman Weinblatt Sitarz syndrome|marrow hypoplasia associated with congenital neurologic anomalies MESH:C535603|GARD:0001913|UMLS:C2930947 https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome owl:Class MONDO:0007550 biolink:NamedThing epidermolysis bullosa simplex Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. tmpak2llvmy_mondo_relaxed.owl EBS-gen sev|epidermolysis bullosa herpetiformis Dowling-Meara type|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, Dowling-Meara type|Dowling-Meara type epidermolysis bullosa simplex|EBS-DM|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa simplex, generalized severe|EBSDM|EBS, generalized severe|epidermolysis bullosa herpetiformis, Dowling-Meara type DOID:0060735|Orphanet:79396|SCTID:254179000|OMIM:131760|ICD10:Q81.0|GARD:0002141|ICD9:771.2 https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type owl:Class FOODON:03420144 biolink:NamedThing plant above surface, excluding fruit and seed tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1678141 biolink:NamedThing Orthohepevirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0097529 biolink:NamedThing myeloid leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10660 biolink:NamedThing SDC3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020823 biolink:NamedThing infantile miliaria tmpak2llvmy_mondo_relaxed.owl SCTID:402824003 owl:Class MONDO:0033652 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 17 tmpak2llvmy_mondo_relaxed.owl MC4DN17 OMIM:619061 owl:Class MONDO:0010191 biolink:NamedThing von Willebrand disease 3 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). tmpak2llvmy_mondo_relaxed.owl VWD type 3|von Willebrand disease type 3|von Willebrand disease type III|Von Willebrand disease, type 3|von Willebrand's disease type 3|VWD, type 3|VWD3|VON WILLEBRAND disease, type 3|von Willebrand disease 3|von Willebrand's disease 3 ICD10:D68.0|DOID:0111054|NCIT:C85213|Orphanet:166096|UMLS:C1264041|SCTID:128108002|MESH:D056729|OMIM:277480 owl:Class MONDO:0025086 biolink:NamedThing hip dysplasia, canine A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. tmpak2llvmy_mondo_relaxed.owl dysplasia, canine hip|canine hip dysplasia UMLS:C0019556|MESH:D006619 owl:Class MONDO:0019728 biolink:NamedThing heavy chain deposition disease tmpak2llvmy_mondo_relaxed.owl HCDD UMLS:C1333947|Orphanet:93556|ICD10:D89.8|UMLS:CN206635|NCIT:C7339 owl:Class MONDO:0100375 biolink:NamedThing acute myeloid leukemia, t(15;17)(q24;q21) Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(15;17)(q22;q12)|AML, t(15;17)(q24;q21)|AML, t(15;17)(q22;q21) NCIT:C36055 owl:Class MONDO:0016425 biolink:NamedThing Hughes-Stovin syndrome Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. tmpak2llvmy_mondo_relaxed.owl SCTID:721226005|UMLS:CN201382|ICD10:I28.8|Orphanet:228116 owl:Class MONDO:0030043 biolink:NamedThing congenital disorder of glycosylation, type iit tmpak2llvmy_mondo_relaxed.owl CDG2T|Cdg Iit|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt OMIM:618885 owl:Class MONDO:0004182 biolink:NamedThing stage IVb bladder cancer Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. tmpak2llvmy_mondo_relaxed.owl Jewett-Marshall stage D2 urinary bladder carcinoma|Jewett-Marshall stage D1 bladder cancer|stage IVB bladder cancer|Jewett-Marshall bladder cancer|Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 bladder cancer|stage IVB urinary bladder cancer|stage IVB urinary bladder carcinoma UMLS:C1336362|NCIT:C9368|DOID:7315 Editor note: consider obsoleting or moving to stage owl:Class UBERON:0018132 biolink:NamedThing tail fat pad Encapsulated adipose tissue that is part of a tail. tmpak2llvmy_mondo_relaxed.owl tail fat depot owl:Class MONDO:0008317 biolink:NamedThing proteolytic capacity of plasma tmpak2llvmy_mondo_relaxed.owl proteolytic capacity of plasma OMIM:176900 owl:Class MONDO:0002047 biolink:NamedThing pulmonary systemic sclerosis tmpak2llvmy_mondo_relaxed.owl lung disease with systemic sclerosis|scleroderma lung disease|scleroderma of lung|lung involvement in systemic sclerosis ICD9:517.2|SCTID:196133001|UMLS:C0339904|ICD10:M34.81|DOID:1578 owl:Class HGNC:9236 biolink:NamedThing PPARG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007919 biolink:NamedThing lymphatic malformation 1 Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. tmpak2llvmy_mondo_relaxed.owl LMPH1A|lymphedema, hereditary, 1A|Milroy disease|hereditary lymphedema type I|early onset lymphedema|hereditary lymphedema caused by mutation in FLT4|congenital hereditary lymphedema|Nonne’s syndrome|lymphedema, early-onset|FLT4 hereditary lymphedema|Nonne-Milroy disease|lymphedema, hereditary, type 1A|primary congenital lymphedema|Nonne-Milroy lymphedema|congenital primary lymphedema|Nonne-Milroy syndrome|hereditary lymphedema 1 DOID:0070210|Orphanet:79452|SCTID:399889006|GARD:0007220|OMIM:153100 https://github.com/monarch-initiative/mondo/issues/2768 owl:Class MONDO:0007868 biolink:NamedThing hyperekplexia 1 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. tmpak2llvmy_mondo_relaxed.owl Stiff-baby syndrome|Kok disease|exaggerated startle reaction|startle reaction, exaggerated|startle disease, familial|hyperekplexia type 1|Stiff-Person syndrome, congenital|hyperekplexia, hereditary 1|Stiff-Man syndrome, congenital|Sthe|HKPX1|hyperekplexia 1|hyperekplexia, hereditary type 1 DOID:0060696|ICD10:G25.8|OMIM:149400 owl:Class HP:0000071 biolink:NamedThing Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. tmpak2llvmy_mondo_relaxed.owl Narrowing of the ureter UMLS:C0521618|SNOMEDCT_US:95574003 human_phenotype owl:Class MONDO:0004838 biolink:NamedThing orthostatic proteinuria tmpak2llvmy_mondo_relaxed.owl postural albuminuria DOID:9617|ICD10:R80.2|ICD9:593.6|UMLS:C0232867 owl:Class MONDO:0010381 biolink:NamedThing Tn polyagglutination syndrome tmpak2llvmy_mondo_relaxed.owl galactosyltransferase deficiency|TNPS|Tn polyagglutination syndrome OMIM:300622|DOID:0080520|UMLS:C0272137|MESH:C562719 owl:Class MONDO:0006673 biolink:NamedThing pituitary gland basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. tmpak2llvmy_mondo_relaxed.owl pituitary gland basophilic adenoma|pituitary basophilic adenoma|mucoid cell adenoma|basophil adenoma|basophilic adenoma|basophilic pituitary gland adenoma EFO:1000834|UMLS:C0001431|ICDO:8300/0|MESH:D000237|DOID:4542|NCIT:C2856 owl:Class NCBITaxon:5796 biolink:NamedThing Coccidia tmpak2llvmy_mondo_relaxed.owl coccidians GC_ID:1 ncbi_taxonomy owl:Class HGNC:10941 biolink:NamedThing SLC1A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013080 biolink:NamedThing primary biliary cholangitis 3 tmpak2llvmy_mondo_relaxed.owl PBC3|biliary cirrhosis, primary, 3 OMIM:613008|MESH:C567816|UMLS:C2751695 owl:Class HP:0001080 biolink:NamedThing Biliary tract abnormality An abnormality of the biliary tree. tmpak2llvmy_mondo_relaxed.owl Biliary tract disease UMLS:C0549613|UMLS:C0005424|MSH:D001660|SNOMEDCT_US:105997008 human_phenotype owl:Class MONDO:0013678 biolink:NamedThing EDICT syndrome EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. tmpak2llvmy_mondo_relaxed.owl endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|autosomal dominant keratoconus with early-onset anterior polar cataracts|keratoconus, familial, with early-onset anterior polar cataract|KTCNCT|familial keratoconus with cataract|EDICT|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|EDICT syndrome|keratoconus with cataract Orphanet:293936|UMLS:C3280392|SCTID:722439009|OMIM:614303 owl:Class MONDO:0014977 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Z An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. tmpak2llvmy_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z|POGLUT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2Z|muscular dystrophy, limb-girdle, type 2Z OMIM:617232|NCIT:C142082|UMLS:C4310660|Orphanet:480682|UMLS:CN776834 MONDO:0018817 owl:Class SO:0001637 biolink:NamedThing rRNA_gene A gene that encodes for ribosomal RNA. tmpak2llvmy_mondo_relaxed.owl rDNA|rRNA gene owl:Class MONDO:0007177 biolink:NamedThing auriculoosteodysplasia Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. tmpak2llvmy_mondo_relaxed.owl multiple osseous dysplasia, characteristic ear shape, and short stature|auriculoosteodysplasia|auriculo-osteodysplasia GARD:0008663|UMLS:C1862381|OMIM:109000|ICD10:Q87.5|Orphanet:114|MESH:C538271 https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia owl:Class MONDO:0020403 biolink:NamedThing congenital mitral valve agenesis Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.3|Orphanet:99062 owl:Class MONDO:0020694 biolink:NamedThing salivary gland epithelial myoepithelial carcinoma A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. tmpak2llvmy_mondo_relaxed.owl salivary gland epithelial myoepithelial carcinoma NCIT:C35701 owl:Class MONDO:0100248 biolink:NamedThing rapidly progressive primary central nervous system vasculitis A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions. tmpak2llvmy_mondo_relaxed.owl rapidly progressive PCNSV owl:Class MONDO:0030366 biolink:NamedThing cardiomyopathy, dilated, 2E tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, dilated, 2E|CMD2E OMIM:619492 owl:Class MONDO:0008543 biolink:NamedThing tetralogy of fallot and glaucoma tmpak2llvmy_mondo_relaxed.owl familial tetralogy of fallot and glaucoma|tetralogy of fallot and glaucoma MESH:C536501|GARD:0010107|UMLS:C1861234|OMIM:187501 https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma owl:Class NCBITaxon:766764 biolink:NamedThing Debaryomycetaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015101 biolink:NamedThing Marin-Amat syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN197448|ICD10:Q07.8|Orphanet:101104 owl:Class HP:0004368 biolink:NamedThing Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. tmpak2llvmy_mondo_relaxed.owl Increased purine levels|Increased purine level UMLS:C4025332 peter 2008-03-18T06:31:00Z human_phenotype owl:Class HP:0004352 biolink:NamedThing Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormal circulating purine level UMLS:C4025346 Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. peter 2008-03-17T01:04:00Z human_phenotype owl:Class MONDO:0006737 biolink:NamedThing dystocia Slow or difficult obstetric labor or childbirth. tmpak2llvmy_mondo_relaxed.owl EFO:1000911|MESH:D004420 owl:Class MONDO:0016745 biolink:NamedThing diffuse leptomeningeal melanocytosis Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. tmpak2llvmy_mondo_relaxed.owl DLM|leptomeningeal melanomatosis Orphanet:252031 owl:Class MONDO:0017840 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. tmpak2llvmy_mondo_relaxed.owl classic 21-OHD CAH, simple virilizing form ICD10:E25.0|Orphanet:315311 owl:Class UBERON:0011766 biolink:NamedThing left recurrent laryngeal nerve tmpak2llvmy_mondo_relaxed.owl vagus X nerve left recurrent laryngeal branch|left recurrent laryngeal branch|left recurrent laryngeal nerve owl:Class HGNC:4824 biolink:NamedThing HBA2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0005132 biolink:NamedThing Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. tmpak2llvmy_mondo_relaxed.owl UMLS:C0240709 human_phenotype owl:Class CL:0009039 biolink:NamedThing colon goblet cell A goblet cell that is located in the colon. tmpak2llvmy_mondo_relaxed.owl goblet cell of colon owl:Class MONDO:0024310 biolink:NamedThing angiodysplasia of stomach A angiodysplasia that involves the stomach. tmpak2llvmy_mondo_relaxed.owl stomach angiodysplasia|gastric vascular dysplasia|gastric angiodysplasia SCTID:424802006|UMLS:C0744273 owl:Class UBERON:0002324 biolink:NamedThing muscle of back Any muscle organ that is part of a back [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl muscle organ of back|back muscle organ|back muscle owl:Class UBERON:0014852 biolink:NamedThing chorda tendinea of right ventricle Chorda tendinea which is attached to the leaflet of tricuspid valve and is continuous with the endocardium of papillary muscle of right ventricle. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0004363 biolink:NamedThing Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. tmpak2llvmy_mondo_relaxed.owl Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal blood calcium concentration|Abnormal circulating Ca concentration peter 2008-03-17T04:15:00Z HP:0040077 human_phenotype owl:Class MONDO:0015378 biolink:NamedThing fourth branchial cleft anomaly tmpak2llvmy_mondo_relaxed.owl fourth branchial cleft fistula|fourth branchial cleft cyst ICD10:Q18.0|Orphanet:141037|SCTID:707234001 owl:Class MONDO:0100222 biolink:NamedThing A20 haploinsufficiency Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. tmpak2llvmy_mondo_relaxed.owl HA20 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0044675 biolink:NamedThing LRP5-related primary osteoporosis tmpak2llvmy_mondo_relaxed.owl Orphanet:498481 owl:Class MONDO:0004421 biolink:NamedThing sclerosing breast papilloma A breast papilloma characterized by the presence of predominant sclerosing architectural features. tmpak2llvmy_mondo_relaxed.owl Complex sclerosing papillary lesion of the breast|sclerosing breast papilloma|Complex sclerosing papillary lesion NCIT:C27944|UMLS:C1335932|DOID:7984 owl:Class MONDO:0009471 biolink:NamedThing intrinsic factor and r binder, combined congenital deficiency of tmpak2llvmy_mondo_relaxed.owl intrinsic factor and r binder, combined congenital deficiency of OMIM:243320|UMLS:C1855721|MESH:C565461 owl:Class HGNC:6719 biolink:NamedThing LTC4S tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017365 biolink:NamedThing hereditary acrokeratotic poikiloderma, Weary type tmpak2llvmy_mondo_relaxed.owl congenital poikiloderma with bullae, Weary type Orphanet:2907|ICD10:Q82.8 owl:Class MONDO:0008260 biolink:NamedThing Kindler syndrome Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. tmpak2llvmy_mondo_relaxed.owl Kindler syndrome|poikiloderma, congenital, with bullae, Weary type|poikiloderma, hereditary acrokeratotic|congenital bullous poikiloderma|bullous acrokeratotic poikiloderma of Kindler and Weary|poikiloderma of Kindler|KINDLER syndrome|KNDLRS|KS SCTID:238836000|Orphanet:2908|ICD10:Q81.8|MESH:C536321|OMIM:173650|DOID:0060472|GARD:0004391 owl:Class MONDO:0013723 biolink:NamedThing bacteremia, susceptibility to, 1 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene. tmpak2llvmy_mondo_relaxed.owl TIRAP bacteremia, susceptibility|BACTS1|bacteremia, susceptibility to, type 1|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, susceptibility to, 1|bacteremia, resistance to OMIM:614382 owl:Class MONDO:0054742 biolink:NamedThing combined oxidative phosphorylation deficiency 35 tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 35|COXPD35 UMLS:CN807948|OMIM:617873|DOID:0111464 owl:Class CHEBI:35107 biolink:NamedThing azane Saturated acyclic nitrogen hydrides having the general formula NnHn+2. tmpak2llvmy_mondo_relaxed.owl azanes owl:Class MONDO:0006348 biolink:NamedThing pancreatic small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. tmpak2llvmy_mondo_relaxed.owl small cell carcinoma of endocrine pancreas|pancreatic small cell NEC G3|pancreatic small cell neuroendocrine carcinoma|endocrine pancreas small cell carcinoma|pancreatic small cell NEC EFO:1000444|NCIT:C95583|UMLS:C2987240 owl:Class MONDO:0016164 biolink:NamedThing herpetiform pemphigus Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226858|Orphanet:208524|ICD10:L10.2 owl:Class CHEBI:36339 biolink:NamedThing baryon Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). tmpak2llvmy_mondo_relaxed.owl baryons owl:Class MONDO:0008663 biolink:NamedThing snowflake vitreoretinal degeneration Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. tmpak2llvmy_mondo_relaxed.owl SVD|vitreoretinal degeneration, snowflake type|snowflake vitreoretinal degeneration|snowflake degeneration in hereditary vitreoretinal degeneration GARD:0009706|OMIM:193230|MESH:C536677|Orphanet:91496|ICD10:H35.5|DOID:0111570|UMLS:C1860405 https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration owl:Class UBERON:0001142 biolink:NamedThing left renal vein A renal vein that drains the left kidney tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2157 biolink:NamedThing Archaea tmpak2llvmy_mondo_relaxed.owl Mendosicutes|Prokaryota|Prokaryotae|archaea|Monera|Procaryotae|prokaryote|Metabacteria|Archaebacteria|prokaryotes PMID:11541975|PMID:10425795|PMID:11321083|PMID:8123559|PMID:25527841|PMID:11542064|PMID:10939651|PMID:11211268|PMID:9336922|PMID:8590690|PMID:10425796|PMID:11411719|PMID:10490293|PMID:10843050|PMID:11321113|PMID:10425797|GC_ID:11|PMID:11540071|PMID:2112744|PMID:9103655|PMID:10939677|PMID:10939673|PMID:270744|PMID:12054223|PMID:11542149|PMID:11760965 ncbi_taxonomy owl:Class NCBITaxon:41687 biolink:NamedThing Scedosporium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:66829 ncbi_taxonomy owl:Class CHEBI:22977 biolink:NamedThing cadmium atom tmpak2llvmy_mondo_relaxed.owl Cd|Kadmium|cadmium|cadmio|48Cd owl:Class MONDO:0017535 biolink:NamedThing central polydactyly of fingers, unilateral tmpak2llvmy_mondo_relaxed.owl mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral ICD10:Q69.0|Orphanet:295171 owl:Class MONDO:0020252 biolink:NamedThing essential strabismus tmpak2llvmy_mondo_relaxed.owl Orphanet:98682 owl:Class MONDO:0005407 biolink:NamedThing childhood eosinophilic esophagitis An eosinophilic esophagitis that starts in childhood. tmpak2llvmy_mondo_relaxed.owl eosinophilic esophagitis of childhood|pediatric eosinophilic esophagitis EFO:0004594 owl:Class MONDO:0002385 biolink:NamedThing benign cystic nephroma A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. tmpak2llvmy_mondo_relaxed.owl cystic nephroma|benign multilocular cystic nephroma|benign cystic nephroma UMLS:C1266138|EFO:1000213|ICDO:8959/0|NCIT:C7504|DOID:2673 owl:Class MONDO:0016318 biolink:NamedThing progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). tmpak2llvmy_mondo_relaxed.owl PML|leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis MESH:D007968|Orphanet:217260|NCIT:C26815|ICD9:046.3|DOID:643|SCTID:22255007|EFO:0007455|UMLS:C0023524|GARD:0007468|MedDRA:10036807|ICD10:A81.2 https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy owl:Class NCBITaxon:53469 biolink:NamedThing Ancylostomatinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016416 biolink:NamedThing diphallia tmpak2llvmy_mondo_relaxed.owl Diphallus SCTID:253851000|GARD:0001872|Orphanet:227|ICD10:Q55.6|ICD9:752.69 https://rarediseases.info.nih.gov/diseases/1872/diphallia owl:Class MONDO:0007460 biolink:NamedThing discrimination, Two-point, reduction 1N tmpak2llvmy_mondo_relaxed.owl discrimination, TWO-point, reduction IN|discrimination, Two-point, reduction type 1N|sensory discrimination OMIM:126180 owl:Class ENVO:00002017 biolink:NamedThing metamorphic rock A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012002 biolink:NamedThing autosomal recessive nonsyndromic deafness 40 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 40|DFNB40|deafness, autosomal recessive 40|autosomal recessive nonsyndromic deafness type 40 DOID:0110499|OMIM:608264|ICD10:H90.3|UMLS:C1842345|MESH:C564266 owl:Class MONDO:0011350 biolink:NamedThing autosomal dominant nonsyndromic deafness 17 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. tmpak2llvmy_mondo_relaxed.owl late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|autosomal dominant deafness 17|deafness, autosomal dominant type 17|nonsyndromic hereditary deafness DFNA17|DFNA17|deafness, autosomal dominant nonsyndromic sensorineural 17|autosomal dominant nonsyndromic deafness type 17|Cochleosaccular Degeneration|MYH9 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 17 ICD10:H90.3|GARD:0009726|OMIM:603622|DOID:0110548 owl:Class MONDO:0009918 biolink:NamedThing fundus dystrophy, pseudoinflammatory, recessive form tmpak2llvmy_mondo_relaxed.owl pseudoinflammatory fundus dystrophy|fundus dystrophy, pseudoinflammatory, recessive form|PFD Lavia type|Pfd, Lavia type|Pfd, Finnish type|fundus dystrophy, pseudoinflammatory recessive form UMLS:C1849694|OMIM:264420|MESH:C535828|GARD:0009633 owl:Class MONDO:0012374 biolink:NamedThing brachyphalangy, polydactyly, and tibial aplasia/hypoplasia tmpak2llvmy_mondo_relaxed.owl brachyphalangy, polydactyly and absent tibiae|brachyphalangy, polydactyly, and tibial aplasia/hypoplasia OMIM:609945|GARD:0009893|UMLS:C1864965|MESH:C537100 https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia owl:Class MONDO:0300000 biolink:NamedThing SSR3-CDG A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure. tmpak2llvmy_mondo_relaxed.owl SSR3 congenital disorder of glycosylation|SSR3 deficiency http://orcid.org/0000-0001-9969-8610 http://orcid.org/0000-0003-2338-2550 owl:Class MONDO:0001500 biolink:NamedThing gender identity disorder A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). tmpak2llvmy_mondo_relaxed.owl SCTID:87991007|ICD9:302.6|ICD9:302.8|ICD9:302.89|ICD10:F64.2|DOID:1234|ICD9:302.85|NCIT:C94362|EFO:0008587 owl:Class MONDO:0015572 biolink:NamedThing cerebral malformation due to abnormal neuronal migration tmpak2llvmy_mondo_relaxed.owl non-syndromic cerebral malformation due to abnormal neuronal migration|brain malformation due to abnormal neuronal migration 2022-03-01 ICD10:Q04.8|Orphanet:163209 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58. MONDO_0016054 owl:Class MONDO:0011646 biolink:NamedThing laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy tmpak2llvmy_mondo_relaxed.owl laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy UMLS:C1853556|MESH:C565252|OMIM:606183 owl:Class MONDO:0021008 biolink:NamedThing secondary antiphospholipid syndrome An antiphospholipid syndrome that occurs alongside another autoimmune disorder. tmpak2llvmy_mondo_relaxed.owl UMLS:C0409983|ICD9:795.79|SCTID:239895006 owl:Class HGNC:23168 biolink:NamedThing FANCM tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001966 biolink:NamedThing chronic closed-angle glaucoma Chronic form of angle-closure glaucoma. tmpak2llvmy_mondo_relaxed.owl anatomical narrow angle glaucoma|chronic narrow angle glaucoma|angle-closure glaucoma, chronic|chronic angle-closure glaucoma UMLS:C0154947|ICD9:365.23|ICD10:H40.22|DOID:14445|SCTID:33647009 owl:Class ENVO:01001309 biolink:NamedThing liquid air-water interface layer A liquid surface layer which is in contact with air. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018058 biolink:NamedThing tracheal agenesis Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. tmpak2llvmy_mondo_relaxed.owl tracheal absence|congenital tracheal agenesis|congenital absence of trachea MESH:C536975|NCIT:C35376|GARD:0005233|Orphanet:3346|SCTID:3987009|ICD10:Q32.1|UMLS:C1261567 https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis owl:Class MONDO:0009801 biolink:NamedThing familial osteodysplasia, Anderson type Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl osteodysplasia, familial, Anderson type|osteodysplasia familial Anderson type Orphanet:2769|GARD:0004136|MESH:C564923|OMIM:259250|UMLS:C1850186 https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type owl:Class MONDO:0008419 biolink:NamedThing scoliosis, isolated, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl IS1|adolescent idiopathic scoliosis|adolescent isolated scoliosis|scoliosis, isolated, susceptibility to, 1 OMIM:181800 owl:Class MONDO:0016173 biolink:NamedThing non-paraneoplastic sensory ganglionopathy tmpak2llvmy_mondo_relaxed.owl non-paraneoplastic sensory neuronopathy Orphanet:208989 owl:Class MONDO:0009540 biolink:NamedThing chronic mucocutaneous candidiasis due to lymphokine deficiency tmpak2llvmy_mondo_relaxed.owl lymphokine deficiency OMIM:247650|UMLS:C1855471|MESH:C565428 owl:Class MONDO:0010087 biolink:NamedThing Sugarman brachydactyly Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl Sugarman-Hager-Kulik syndrome|Sugarman brachydactyly|brachydactyly with Major proximal phalangeal shortening|brachydactyly of the hands and feet with duplication of the first toes|brachydactyly with major proximal phalangeal shortening DOID:0110979|GARD:0005058|OMIM:272150|Orphanet:498602 https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly owl:Class MONDO:0009844 biolink:NamedThing pellagra-like syndrome tmpak2llvmy_mondo_relaxed.owl pellagra-like syndrome|pellagra like syndrome|pellagra-like skin rash-neurological manifestations syndrome|pellagra-like rash with neurologic manifestations MESH:C538352|GARD:0004267|OMIM:260650|Orphanet:2837|UMLS:C1850052 https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome owl:Class NCBITaxon:1868215 biolink:NamedThing Orthopneumovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0002243 biolink:NamedThing smooth muscle cell of sphincter of pupil A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells. tmpak2llvmy_mondo_relaxed.owl smooth muscle fibre of sphincter of pupil|smooth muscle fiber of sphincter of pupil FMA:70611 tmeehan 2010-09-08T08:53:42Z cell owl:Class MONDO:0010900 biolink:NamedThing intrauterine growth retardation with increased mitomycin c sensitivity tmpak2llvmy_mondo_relaxed.owl intrauterine growth retardation with increased mitomycin c sensitivity MESH:C536744|GARD:0005593|OMIM:600546 https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity owl:Class MONDO:0002267 biolink:NamedThing obstructive lung disease Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. tmpak2llvmy_mondo_relaxed.owl respiratory airway obstruction MESH:D008173|UMLS:C0600260|DOID:2320 owl:Class MONDO:0011960 biolink:NamedThing schizophrenia 11 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. tmpak2llvmy_mondo_relaxed.owl schizophrenia type 11|schizophrenia susceptibility locus, chromosome 10Q-related|SCZD11|Sczd11|schizophrenia 11 UMLS:C1842605|DOID:0070087|OMIM:608078 owl:Class GO:0015804 biolink:NamedThing neutral amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21033 biolink:NamedThing HACE1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5017 biolink:NamedThing HMX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001238 biolink:NamedThing polycythemia neonatorum A condition in which the red blood cell level is greater than established reference ranges in a newborn. tmpak2llvmy_mondo_relaxed.owl neonatal polycythemia|plethora of newborn|polycythemia neonatorum|polycythemia of the newborn NCIT:C27069|DOID:11242|UMLS:C0272153|SCTID:32984002|ICD10:P61.1|ICD9:776.4 owl:Class MONDO:0011235 biolink:NamedThing pelvic dysplasia-arthrogryposis of lower limbs syndrome tmpak2llvmy_mondo_relaxed.owl pelvic dysplasia arthrogryposis of lower limbs|pelvic hypoplasia with LOWER-limb arthrogryposis|Ray-Peterson-Scott syndrome|pelvic hypoplasia with lower limb arthrogryposis|pelvic hypoplasia with arthrogryposis of lower limbs Orphanet:2840|GARD:0004269|UMLS:C1865294|OMIM:602484 owl:Class NCBITaxon:6183 biolink:NamedThing Schistosoma mansoni tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014990 biolink:NamedThing uncombable hair syndrome 3 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene. tmpak2llvmy_mondo_relaxed.owl UHS3|uncombable hair syndrome 3; UHS3|uncombable hair syndrome 3|uncombable hair syndrome caused by mutation in TCHH|uncombable hair syndrome type 3|TCHH uncombable hair syndrome OMIM:617252|UMLS:C4310648 owl:Class MONDO:0002757 biolink:NamedThing acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. tmpak2llvmy_mondo_relaxed.owl SCTID:17866004|UMLS:C0155420|ICD9:381.06|DOID:3728 owl:Class MONDO:0002737 biolink:NamedThing acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. tmpak2llvmy_mondo_relaxed.owl SCTID:77478005|UMLS:C0395865|ICD9:381.03|DOID:3696 owl:Class MONDO:0003133 biolink:NamedThing exudative glomerulonephritis Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. tmpak2llvmy_mondo_relaxed.owl NCIT:C35706|UMLS:C0546345|DOID:4777 owl:Class MONDO:0018871 biolink:NamedThing acute myelomonocytic leukemia M4 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl AMML|acute myeloblastic leukemia type 4|acute M4 myeloid leukemia|AML M4|acute myelomonocytic leukemia (FAB type M4)|AML-M4|acute myelomonocytic leukemia|AMMoL GARD:0000529|ICD10:C92.5|MedDRA:10000890|NCIT:C7463|Orphanet:517|ICDO:9867/3|UMLS:C0023479|EFO:0000223|ONCOTREE:AMML|SCTID:110005000 https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia owl:Class MONDO:0100432 biolink:NamedThing FNIP1-associated syndrome Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome. tmpak2llvmy_mondo_relaxed.owl immunodeficiency with cardiomyopathy and pre-excitation syndrome|absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome|FNIP1 deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4021 owl:Class MONDO:0007185 biolink:NamedThing Banki syndrome Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. tmpak2llvmy_mondo_relaxed.owl fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)|Banki syndrome ICD10:Q68.1|MESH:C566228|Orphanet:1228|GARD:0000813|SCTID:733093004|OMIM:109300|UMLS:C1862319 https://rarediseases.info.nih.gov/diseases/813/banki-syndrome owl:Class MONDO:0012545 biolink:NamedThing neutral lipid storage myopathy tmpak2llvmy_mondo_relaxed.owl neutral lipid storage disease without ichthyosis|neutral lipid storage disease with myopathy|NLSDM|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease with myopathy without ichthyosis Orphanet:98908|GARD:0010288|ICD10:E75.5|SCTID:699315005|OMIM:610717 owl:Class MONDO:0054805 biolink:NamedThing microcephaly 22, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH22|microcephaly 22, PRIMARY, autosomal recessive OMIM:617984 owl:Class MONDO:0002136 biolink:NamedThing eczematous dermatitis of eyelid tmpak2llvmy_mondo_relaxed.owl DOID:1893|ICD10:H01.13|SCTID:36259009|ICD9:373.31|UMLS:C0155177 owl:Class MONDO:0011083 biolink:NamedThing trichodental syndrome Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl Tricho-dental dysplasia|Tricho-dental syndrome|TRICHODENTAL dysplasia|kersey syndrome UMLS:C0406724|MESH:C536551|OMIM:601453|GARD:0000265|SCTID:277810000|Orphanet:3351 https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome owl:Class MONDO:0001511 biolink:NamedThing thyrotoxic exophthalmos tmpak2llvmy_mondo_relaxed.owl DOID:12362|ICD9:376.21|SCTID:19885005|UMLS:C0155265 owl:Class MONDO:0001509 biolink:NamedThing endocrine exophthalmos tmpak2llvmy_mondo_relaxed.owl SCTID:276177000|ICD9:376.2|UMLS:C0155264|DOID:12359 owl:Class MONDO:0010042 biolink:NamedThing spastic diplegia and intellectual disability tmpak2llvmy_mondo_relaxed.owl spastic diplegia, infantile type|hereditary spastic diplegia with intellectual disability|spastic diplegia infantile type|spastic diplegia and intellectual disability|spastic diplegia and mental retardation|hereditary spastic diplegia with mental retardation MESH:C537481|GARD:0004911|OMIM:270600|UMLS:C1849139 owl:Class MONDO:0014207 biolink:NamedThing age related macular degeneration 14 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. tmpak2llvmy_mondo_relaxed.owl ARMD14|macular Degeneration, age-related, type 14|macular degeneration, age-related, 14|age related macular degeneration type 14|macular Degeneration, age-related, reduced risk of OMIM:615489|DOID:0110026 owl:Class HGNC:10327 biolink:NamedThing RPL26 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0700090 biolink:NamedThing epilepsy, familial temporal lobe, 1 An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, type 1|ETL1|epilepsy, lateral temporal lobe, autosomal dominant|epilepsy, partial, with auditory features NCIT:C141441|OMIM:600512 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/2614 owl:Class MONDO:0019582 biolink:NamedThing self-healing papular mucinosis Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. tmpak2llvmy_mondo_relaxed.owl Orphanet:90397|ICD10:L98.5 owl:Class MONDO:0019179 biolink:NamedThing monosomy 9q22.3 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. tmpak2llvmy_mondo_relaxed.owl microdeletion 9q22.3 SCTID:724098008|Orphanet:77301|MESH:C579873|ICD10:Q93.5|UMLS:C3711390 owl:Class MONDO:0032939 biolink:NamedThing intellectual developmental disorder, autosomal dominant 63, with macrocephaly tmpak2llvmy_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 63, With Macrocephaly|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY|MRD63 OMIM:618825 owl:Class NCBITaxon:2732525 biolink:NamedThing Pokkesviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2899 biolink:NamedThing DLEC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1455 biolink:NamedThing CALR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003575 biolink:NamedThing comedocarcinoma A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. tmpak2llvmy_mondo_relaxed.owl comedo carcinoma|Comedocarcinoma ICDO:8501/3|NCIT:C4188|DOID:5670|UMLS:C0334370 Editor note: The DO class may refer to a different entity owl:Class MONDO:0019926 biolink:NamedThing X small rings X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. tmpak2llvmy_mondo_relaxed.owl ICD10:Q99.8|Orphanet:96201|SCTID:766760004 owl:Class HGNC:4806 biolink:NamedThing HAL tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001429 biolink:NamedThing land conversion process An anthropisation process during which terrestrial environments - natural or anthropised - or parts thereof are altered to facilitate human activities such as agriculture, settlement, or commerce. tmpak2llvmy_mondo_relaxed.owl land conversion|land development owl:Class MONDO:0017065 biolink:NamedThing lumbosacral spina bifida aperta tmpak2llvmy_mondo_relaxed.owl Orphanet:268388|UMLS:CN202424 owl:Class MONDO:0012404 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 8|SLEB8 OMIM:610066 owl:Class CHEBI:36340 biolink:NamedThing fermion Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. tmpak2llvmy_mondo_relaxed.owl fermions|fermion owl:Class MONDO:0000313 biolink:NamedThing hypophosphatemia Lower than normal levels of phosphates in the circulating blood. tmpak2llvmy_mondo_relaxed.owl hypophosphatemia (disease)|hypophosphatemia hypophosphatemia (disease) SCTID:4996001|DOID:0050336|MESH:D017674|UMLS:C0085682|HP:0002148|NCIT:C37977 owl:Class HGNC:33067 biolink:NamedThing SNORD116-1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043199 biolink:NamedThing short limb dwarf lethal colavita kozlowski type tmpak2llvmy_mondo_relaxed.owl Colavita Kozlowski syndrome GARD:0004823|MESH:C537597|UMLS:C2931544 owl:Class MONDO:0001859 biolink:NamedThing algoneurodystrophy tmpak2llvmy_mondo_relaxed.owl ICD9:733.7|DOID:14022|ICD10:M89.00|ICD10:M89.0 owl:Class MONDO:0005773 biolink:NamedThing Gerstmann syndrome Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. tmpak2llvmy_mondo_relaxed.owl Gerstmann Badal syndrome|aphasia-angular gyrus syndrome|GS|developmental Gerstmann syndrome|Gerstmann tetrad DOID:4969|ICD10:F81.2|GARD:0008660|EFO:0007285|ICD9:784.69|SCTID:36785009|Orphanet:221117|MESH:D005862|MedDRA:10048608 https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome owl:Class UBERON:0005854 biolink:NamedThing cervical spinal cord ventral column A subdivision of spinal cord ventral column that is part of a cervical spinal cord. tmpak2llvmy_mondo_relaxed.owl cervical spinal cord anterior column owl:Class MONDO:0012379 biolink:NamedThing asthma-related traits, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl asthma-related traits, susceptibility to, 3|asthma-related traits, susceptibility to, type 3|ASRT3 OMIM:609958 owl:Class UBERON:0003524 biolink:NamedThing tail blood vessel A blood vessel that is part of a tail [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl post-vent region blood vessel|blood vessel of tail|blood vessel of post-vent region owl:Class MONDO:0018392 biolink:NamedThing male infertility with spermatogenesis disorder due to single gene mutation tmpak2llvmy_mondo_relaxed.owl 2022-03-01 GARD:0012513|Orphanet:399786|UMLS:CN227340|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation owl:Class MONDO:0009392 biolink:NamedThing hyperopia, high tmpak2llvmy_mondo_relaxed.owl hyperopia, high OMIM:238950|MESH:C565497 owl:Class NCBITaxon:11588 biolink:NamedThing Rift Valley fever virus tmpak2llvmy_mondo_relaxed.owl RVFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1933187 biolink:NamedThing Rift Valley fever phlebovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054722 biolink:NamedThing geleophysic dysplasia 3 tmpak2llvmy_mondo_relaxed.owl GPHYSD3|GELEOPHYSIC dysplasia 3 DOID:0111727|OMIM:617809 owl:Class MONDO:0022400 biolink:NamedThing retinal ciliopathy due to mutation in the rpgrip gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156174 owl:Class MONDO:0004215 biolink:NamedThing cutaneous anthrax An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. tmpak2llvmy_mondo_relaxed.owl anthrax, skin type|skin anthrax MESH:C531621|UMLS:C0003177|ICD9:022.0|GARD:0008158|DOID:7426|ICD10:A22.0|SCTID:84980006 https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax owl:Class MONDO:0012936 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, 5|leukemia, chronic lymphocytic, susceptibility to, type 5|Clls5 OMIM:612559 owl:Class MONDO:0019636 biolink:NamedThing renal agenesis, unilateral Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. tmpak2llvmy_mondo_relaxed.owl congenital single kidney|congenital solitary kidney|unilateral renal agenesis NCIT:C101220|Orphanet:93100|UMLS:C0266294|ICD10:Q60.0|MedDRA:10053624 owl:Class MONDO:0018777 biolink:NamedThing autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN776826|Orphanet:476119 owl:Class MONDO:0001335 biolink:NamedThing hypotrichosis of eyelid A hypotrichosis that involves the eyelid. tmpak2llvmy_mondo_relaxed.owl eyelid hypotrichosis SCTID:70738004|ICD9:374.55|ICD10:H02.72|DOID:11671|UMLS:C0155214 owl:Class MONDO:0019885 biolink:NamedThing distal trisomy 11q Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 11qter|telomeric duplication 11q|distal duplication 11q|distal trisomy type 11q Orphanet:96103|ICD10:Q92.3|SCTID:764447009|MESH:C538294 owl:Class MONDO:0001207 biolink:NamedThing neonatal respiratory failure tmpak2llvmy_mondo_relaxed.owl respiratory failure of newborn SCTID:95619009|ICD10:P28.5|DOID:11161|UMLS:C0521648|ICD9:770.84 owl:Class MONDO:0010717 biolink:NamedThing pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. tmpak2llvmy_mondo_relaxed.owl pyruvate dehydrogenase complex E1 component subunit alpha deficiency|pyruvate decarboxylase deficiency|PDH deficiency|ataxia, intermittent, with pyruvate dehydrogenase deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|pyruvate dehydrogenase Complex deficiency|ataxia with lactic acidosis 1|lactic acidemia, thiamine-responsive|pyruvate dehydrogenase E1-ALPHA deficiency|pyruvate dehydrogenase E1-alpha deficiency|ataxia, intermittent, with abnormal pyruvate metabolism|PDHAD ICD10:E74.4|Orphanet:79243|OMIM:312170|GARD:0004620|SCTID:124593001|ICD9:277.6 owl:Class FOODON:03400644 biolink:NamedThing a. primary food commodities of plant origin (ccpr) tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0644 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class MONDO:0019536 biolink:NamedThing typical hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. tmpak2llvmy_mondo_relaxed.owl D+HUS|hemolytic-uremic syndrome with diarrhea|D-plus hemolytic uremic syndrome (D+HUS)|typical HUS|Sxt-HUS|Shiga-like toxin-associated HUS GARD:0006241|Orphanet:90038|ICD10:D59.3|UMLS:CN206363 https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus owl:Class MONDO:0015810 biolink:NamedThing primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl ICD10:C84.4|Orphanet:178522 owl:Class MONDO:0010515 biolink:NamedThing Meester-Loeys syndrome tmpak2llvmy_mondo_relaxed.owl Meester-Loeys syndrome; MRLS|Meester-Loeys syndrome|MRLS UMLS:C4310811|OMIM:300989 owl:Class MONDO:0003373 biolink:NamedThing kidney leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. tmpak2llvmy_mondo_relaxed.owl renal leiomyosarcoma|leiomyosarcoma of the kidney|leiomyosarcoma of kidney|kidney leiomyosarcoma NCIT:C6183|UMLS:C1335743|DOID:5287 owl:Class MONDO:0021907 biolink:NamedThing aplasia cutis autosomal recessive Aplasia cutis with autosomal recessive inheritance. tmpak2llvmy_mondo_relaxed.owl GARD:0000749 https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive owl:Class MONDO:0054748 biolink:NamedThing Fanconi anemia, complementation group S tmpak2llvmy_mondo_relaxed.owl Fanconi anemia, complementation group S|Fanconi anemia, complementation GROUP S|FANCS OMIM:617883 owl:Class NCBITaxon:2732423 biolink:NamedThing Arfiviricetes tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023022 biolink:NamedThing dwarfism thin bones multiple fractures tmpak2llvmy_mondo_relaxed.owl GARD:0001992 https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures owl:Class MONDO:0013731 biolink:NamedThing MEGF10-Related Myopathy tmpak2llvmy_mondo_relaxed.owl EMARDD|early-onset myopathy, areflexia, respiratory distress and dysphagia|MEGF10-Related Myopathy|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset|MEGF10 Myopathy DOID:0111333|GARD:0012199|Orphanet:439212|UMLS:C3280679|ICD10:G71.2|OMIM:614399 owl:Class MONDO:0013560 biolink:NamedThing Hermansky-Pudlak syndrome 8 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. tmpak2llvmy_mondo_relaxed.owl BLOC1S3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|HPS8|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8 UMLS:C3888026|Orphanet:231537|DOID:0060546|ICD10:E70.3|UMLS:CN201510|OMIM:614077 owl:Class MONDO:0003479 biolink:NamedThing toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. tmpak2llvmy_mondo_relaxed.owl acute chemical pulmonary edema|acute chemical fume pulmonary edema SCTID:233733000|UMLS:C3714582|ICD9:506.9|DOID:551 owl:Class MONDO:0017860 biolink:NamedThing methanol poisoning Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). tmpak2llvmy_mondo_relaxed.owl Orphanet:31825|ICD10:T51.1|UMLS:CN203895 owl:Class MONDO:0016862 biolink:NamedThing Alagille syndrome due to a JAG1 point mutation tmpak2llvmy_mondo_relaxed.owl Alagille syndrome 1|ALGS1|syndromic bile duct paucity due to a JAG1 point mutation|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille-Watson syndrome due to a JAG1 point mutation|Alagille-Watson syndrome|Alagille syndrome due to a JAG1 point mutation|arteriohepatic dysplasia|Alagille syndrome type 1|cholestasis with peripheral pulmonary stenosis UMLS:C1956125|OMIM:118450|ICD10:Q44.7|Orphanet:261619|UMLS:CN202206 owl:Class GO:0003995 biolink:NamedThing acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. tmpak2llvmy_mondo_relaxed.owl acyl-CoA:(acceptor) 2,3-oxidoreductase activity|acyl coenzyme A dehydrogenase activity|acyl dehydrogenase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain acyl-CoA dehydrogenase activity|acyl CoA dehydrogenase activity|general acyl CoA dehydrogenase activity|long-chain acyl coenzyme A dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|medium-chain acyl-CoA dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|acyl-CoA reductase activity|fatty acyl coenzyme A dehydrogenase activity owl:Class MONDO:0011156 biolink:NamedThing progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. tmpak2llvmy_mondo_relaxed.owl PFIC2|severe ABCB11 deficiency|cholestasis, progressive familial intrahepatic, 2|BSEP deficiency|ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|cholestasis, progressive familial intrahepatic, type 2|progressive familial intrahepatic cholestasis type 2 DOID:0070222|UMLS:CN205889|Orphanet:79304|GARD:0001288|ICD10:K76.8|OMIM:601847 https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 owl:Class MONDO:0020851 biolink:NamedThing spermatogenic failure 30 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 30|SPGF30 OMIM:618110 owl:Class NCBITaxon:4081 biolink:NamedThing Solanum lycopersicum tmpak2llvmy_mondo_relaxed.owl Solanum lycopersicum var. humboldtii|tomato|Solanum esculentum|Lycopersicon esculentum|Lycopersicon esculentum var. esculentum GC_ID:1 NCBITaxon:195582 ncbi_taxonomy owl:Class MONDO:0009246 biolink:NamedThing Friedreich ataxia and congenital glaucoma tmpak2llvmy_mondo_relaxed.owl Friedreich ataxia and congenital glaucoma MESH:C538061|OMIM:229310|UMLS:C1856688 owl:Class MONDO:0045038 biolink:NamedThing cutaneous basidiobolomycosis tmpak2llvmy_mondo_relaxed.owl UMLS:C0343966|SCTID:240786004 owl:Class MONDO:0023569 biolink:NamedThing Kozlowski Ouvrier syndrome tmpak2llvmy_mondo_relaxed.owl agenesis of the corpus callosum with intellectual disability and osseous lesions|agenesis of the corpus callosum with mental retardation and osseous lesions GARD:0003139|UMLS:C2931512|MESH:C537508 https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome owl:Class MONDO:0022785 biolink:NamedThing cleft palate cardiac defect ectrodactyly tmpak2llvmy_mondo_relaxed.owl GARD:0001387 https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly owl:Class MONDO:0020630 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 1 tmpak2llvmy_mondo_relaxed.owl IECEE1|epileptic encephalopathy, infantile or early childhood, 1 OMIM:617711|DOID:0080472 owl:Class MONDO:0002938 biolink:NamedThing metatypical basal cell carcinoma A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl skin metatypical carcinoma|basosquamous carcinoma of skin|skin metatypical basal cell carcinoma DOID:4281|SCTID:254702000|NCIT:C66903|ICDO:8095/3 owl:Class MONDO:0007036 biolink:NamedThing Achard syndrome A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. tmpak2llvmy_mondo_relaxed.owl arachnodactyly, receding lower jaw and joint laxity of hands/feet|Achard syndrome GARD:0008176|DOID:6686|OMIM:100700|NCIT:C35809|MESH:C536012|UMLS:C1332135 https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome owl:Class MONDO:0009896 biolink:NamedThing polymyoclonus, infantile tmpak2llvmy_mondo_relaxed.owl polymyoclonus, infantile MESH:C535524|UMLS:C1849731|OMIM:263550 owl:Class MONDO:0004646 biolink:NamedThing decubitus ulcer Death of tissue due to external pressure. tmpak2llvmy_mondo_relaxed.owl decubitus ulcer any site|decubitus ulcer, upper back|pressure ulcer|decubitus ulcer, elbow|decubitus ulcer, lower back|decubitus ulcer, other site|decubitus (pressure) ulcer|bedsore|pressure sores|decubitus ulcer DOID:8717|EFO:0007067|ICD10:L89.9|ICD9:707.00|SCTID:399912005|MESH:D003668|ICD10:L89|UMLS:C0011127|ICD9:707.0 owl:Class MONDO:0022417 biolink:NamedThing alopecia congenita keratosis palmoplantaris tmpak2llvmy_mondo_relaxed.owl alopecia congenita with hyperkeratosis of the palms and soles|alopecia congenita with keratosis palmoplantaris MESH:C537050 owl:Class HGNC:2523 biolink:NamedThing CTRC tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6769 biolink:NamedThing SMAD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011009 biolink:NamedThing muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers UMLS:C1832665|OMIM:601170|MESH:C563378 owl:Class MONDO:0013319 biolink:NamedThing chromosome 4Q32.1-q32.2 triplication syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 4Q32.1-q32.2 triplication syndrome OMIM:613603|UMLS:C3150857 owl:Class MONDO:0017502 biolink:NamedThing acheiria, unilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of hand, unilateral ICD10:Q71.3|Orphanet:295101 owl:Class HGNC:6931 biolink:NamedThing MC3R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016468 biolink:NamedThing toxin-mediated infectious botulism Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). tmpak2llvmy_mondo_relaxed.owl toxin-mediated infective botulism ICD10:A05.1|Orphanet:230800 owl:Class MONDO:0001655 biolink:NamedThing dissociated nystagmus tmpak2llvmy_mondo_relaxed.owl dissociated nystagmus ICD9:379.55|ICD10:H55.04|UMLS:C0155380|SCTID:9520006|DOID:13174 owl:Class MONDO:0012810 biolink:NamedThing aneurysm, intracranial berry, 7 tmpak2llvmy_mondo_relaxed.owl aneurysm, intracranial BERRY, 7|ANIB7 UMLS:C2677337|OMIM:612161|MESH:C567406 owl:Class MONDO:0007504 biolink:NamedThing thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher-Hirt syndrome|Escher Hirt syndrome ICD10:H90.0|SCTID:722476007|GARD:0002195|OMIM:128980|Orphanet:2405 owl:Class MONDO:0003743 biolink:NamedThing heart malignant hemangiopericytoma A malignant hemangiopericytoma arising in the heart. tmpak2llvmy_mondo_relaxed.owl malignant Cardiac hemangiopericytoma|malignant heart hemangiopericytoma|malignant hemangiopericytoma of the heart|heart spindle cell tumor|heart hemangiopericytoma|malignant hemangiopericytoma of heart DOID:6034|UMLS:C1334567|NCIT:C5365 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class NCBITaxon:81852 biolink:NamedThing Enterococcaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class UBERON:0003312 biolink:NamedThing mesenchyme of testis Mesenchyme that is part of a developing testis [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl testis mesenchyme owl:Class MONDO:0007165 biolink:NamedThing spastic ataxia 7 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. tmpak2llvmy_mondo_relaxed.owl miosis, congenital, with spastic ataxia|spastic ataxia type 7|SPAX7|spastic ataxia 7, autosomal dominant|spastic ataxia with congenital miosis|autosomal dominant spastic ataxia type 7 OMIM:108650|ICD10:G11.4|UMLS:C1862441|MESH:C566247|SCTID:763669001|DOID:0050945|Orphanet:1182 owl:Class MONDO:0001923 biolink:NamedThing vitreoretinal dystrophy tmpak2llvmy_mondo_relaxed.owl vitreoretinal dystrophies DOID:14251|ICD9:362.73|SCTID:79556007|ICD10:H35.51|UMLS:C0154863 owl:Class HGNC:8855 biolink:NamedThing PEX13 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:36885 biolink:NamedThing 20-oxo steroid An oxo steroid carrying an oxo group at position 20. tmpak2llvmy_mondo_relaxed.owl 20-oxo steroids owl:Class MONDO:0020743 biolink:NamedThing mixed phenotype acute leukemia An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. tmpak2llvmy_mondo_relaxed.owl mixed phenotype acute leukemia|MPAL Orphanet:530995|MedDRA:10067399|NCIT:C82179|ICD10:C95.0 owl:Class MONDO:0008522 biolink:NamedThing synovial chondromatosis, familial, with dwarfism tmpak2llvmy_mondo_relaxed.owl synovial chondromatosis, familial with dwarfism|synovial chondromatosis, familial, with dwarfism MESH:C566087|UMLS:C1861304|OMIM:186575|GARD:0007720 https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism owl:Class MONDO:0012935 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 4|leukemia, chronic lymphocytic, susceptibility to, 4|Clls4 OMIM:612558 owl:Class MONDO:0010665 biolink:NamedThing Wilson-Turner syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic 6|WTS|mental retardation, X-linked, with gynecomastia and obesity|intellectual disability, X-linked, with gynecomastia and obesity|MRXS6|Wilson Turner intellectual disability syndrome (formerly)|intellectual disability, X-linked, syndromic 6|intellectual disability, X-linked, syndromic 6 (formerly)|intellectual disability, X-linked, with gynecomastia and obesity (formerly)|X-linked intellectual disability - gynecomastia - obesity|X-linked intellectual disability-gynecomastia-obesity syndrome|mental retardation, X-linked, syndromic 6 (formerly)|Wilson-TURNER X-linked mental retardation syndrome|Wilson Turner mental retardation syndrome (formerly)|mental retardation, X-linked, with gynecomastia and obesity (formerly)|Wilson-TURNER X-linked intellectual disability syndrome DOID:0060814|Orphanet:3459|MESH:C536708|GARD:0005579|OMIM:309585|SCTID:719834005 https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome owl:Class MONDO:0001957 biolink:NamedThing critical illness polyneuropathy tmpak2llvmy_mondo_relaxed.owl DOID:14402|ICD10:G62.81|ICD9:357.82|UMLS:C0393851|SCTID:230594005 owl:Class MONDO:0002929 biolink:NamedThing pulmonary immaturity tmpak2llvmy_mondo_relaxed.owl primary atelectasis, in perinatal period|primary atelectasis of newborn ICD9:770.4|ICD10:P28.0|DOID:424|SCTID:42908004 owl:Class MONDO:0012315 biolink:NamedThing distal 10q deletion syndrome Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. tmpak2llvmy_mondo_relaxed.owl chromosome 10q deletion|monosomy 10q|distal deletion 10q|10q deletion|partial monosomy 10q|monosomy 10qter|distal monosomy 10q|deletion 10q|10q monosomy|distal monosomy type 10q|telomeric deletion 10q|terminal chromosome 10Q26 deletion syndrome|chromosome 10q26 deletion syndrome|terminal chromosome 10q26 deletion syndrome UMLS:C4305277|Orphanet:96148|GARD:0003711|ICD10:Q93.5|OMIM:609625|DOID:0060390|UMLS:C2674937|MESH:C567182|SCTID:718687003 owl:Class NCBITaxon:204428 biolink:NamedThing Chlamydiae tmpak2llvmy_mondo_relaxed.owl Chlamydiota|Chlamydaeota PMID:29458499|PMID:26654112|GC_ID:11|PMID:24185849 ncbi_taxonomy owl:Class MONDO:0004160 biolink:NamedThing female stress incontinence The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. tmpak2llvmy_mondo_relaxed.owl female urinary stress incontinence|stress incontinence - female NCIT:C35042|DOID:724|ICD9:625.6|UMLS:C0038437 owl:Class NCBITaxon:41705 biolink:NamedThing Protacanthopterygii tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003591 biolink:NamedThing kidney liposarcoma A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. tmpak2llvmy_mondo_relaxed.owl renal liposarcoma|liposarcoma of kidney|kidney liposarcoma|liposarcoma of the kidney DOID:5699|NCIT:C6185|UMLS:C1335745 owl:Class MONDO:0032574 biolink:NamedThing osteochondrodysplasia, brachydactyly, and overlapping malformed digits tmpak2llvmy_mondo_relaxed.owl OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS|OCBMD OMIM:618167 owl:Class MONDO:0010597 biolink:NamedThing glutamyl ribose-5-phosphate storage disease tmpak2llvmy_mondo_relaxed.owl glutamyl ribose-5-phosphate storage disease|ADP-ribose Protein hydrolase deficiency OMIM:305920|MESH:C564422|UMLS:C1844440 owl:Class MONDO:0001762 biolink:NamedThing dentine erosion A tooth erosion, non-bacterial that involves the dentine. tmpak2llvmy_mondo_relaxed.owl dentine tooth erosion, non-bacterial|tooth erosion, non-bacterial of dentine DOID:13629|ICD9:521.32 owl:Class MONDO:0006721 biolink:NamedThing de Quervain disease Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. tmpak2llvmy_mondo_relaxed.owl tenosynovitis, de Quervain's|radial styloid tenosynovitis MESH:D053684|ICD10:M65.4|UMLS:C0149870|DOID:14107|EFO:1000891|SCTID:21794005|ICD9:727.04 owl:Class MONDO:0010325 biolink:NamedThing X-linked intellectual disability, Stocco dos Santos type tmpak2llvmy_mondo_relaxed.owl Stocco dos Santos syndrome|Stocco DOS Santos X-linked mental retardation syndrome|intellectual disability, Stocco dos Santos type|Stocco DOS Santos X-linked intellectual disability syndrome|mental retardation, X-linked, Stocco Dos Santos type|intellectual disability, X-linked, Stocco Dos Santos type|SDSX|Sdsx|mental retardation, Stocco dos Santos type GARD:0001133|UMLS:C1845530|ICD10:Q87.8|SCTID:718910006|OMIM:300434|MESH:C537495|Orphanet:85288 owl:Class MONDO:0003134 biolink:NamedThing proliferative glomerulonephritis A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. tmpak2llvmy_mondo_relaxed.owl SCTID:441815006|DOID:4778|ICD9:583.0|UMLS:C0235618|NCIT:C35281 owl:Class HGNC:3260 biolink:NamedThing EIF2B4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002797 biolink:NamedThing Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. tmpak2llvmy_mondo_relaxed.owl Increased bone resorption|Osteolytic defects of bones|Breakdown of bone MSH:D010014|SNOMEDCT_US:203522001|UMLS:C0221204|SNOMEDCT_US:30425001 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. HP:0010737 human_phenotype owl:Class MONDO:0006811 biolink:NamedThing intracranial hypotension Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) tmpak2llvmy_mondo_relaxed.owl MESH:D019585|ICD9:349.89|DOID:4723|EFO:1000993|MedDRA:10049977|SCTID:433691000124104|UMLS:C0524812 owl:Class MONDO:0013945 biolink:NamedThing peroxisome biogenesis disorder 9B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 11|peroxisome biogenesis disorder type 9B|Refsum disease, adult, 2|peroxisome biogenesis disorder, complementation group R|peroxisome biogenesis disorder, PEX7-related, atypical|PBD9B|peroxisome biogenesis disorder 9B UMLS:CN159238|OMIM:614879 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0009056 biolink:NamedThing cutis verticis gyrata and intellectual disability tmpak2llvmy_mondo_relaxed.owl cutis verticis gyrata and mental retardation|CVG/MR|cutis verticis gyrata and intellectual disability|cutis verticis gyrata-intellectual disability syndrome OMIM:219300|UMLS:C1857444|Orphanet:1557 owl:Class MONDO:0017167 biolink:NamedThing malignant epithelial tumor of salivary glands tmpak2llvmy_mondo_relaxed.owl malignant epithelial tumor of the salivary glands UMLS:CN202591|Orphanet:276145|ICD10:C08.0|ICD10:C07|ICD10:C08.8|ICD10:C08.1 owl:Class MONDO:0002845 biolink:NamedThing necrotizing gastritis A variant of phlegmonous gastritis, typically progressing to gastric gangrene. tmpak2llvmy_mondo_relaxed.owl necrotizing gastritis DOID:4037|NCIT:C27329|UMLS:C0877152 owl:Class MONDO:0005675 biolink:NamedThing border disease Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. tmpak2llvmy_mondo_relaxed.owl MESH:D001882|UMLS:C0006008|EFO:0007177 owl:Class MONDO:0010550 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. tmpak2llvmy_mondo_relaxed.owl Charcot Marie Tooth disease X-linked recessive 2|CMTX 2|CMTX2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease X-linked recessive type 2 OMIM:302801|ICD10:G60.0|MESH:C535302|UMLS:C1844873|DOID:0110208|Orphanet:101076|GARD:0001243|SCTID:763457000 owl:Class MONDO:0002517 biolink:NamedThing tenosynovitis of foot and ankle tmpak2llvmy_mondo_relaxed.owl ICD9:727.06|DOID:312 owl:Class MONDO:0020303 biolink:NamedThing Angelman syndrome due to paternal uniparental disomy of chromosome 15 tmpak2llvmy_mondo_relaxed.owl Angelman syndrome due to paternal uniparental disomy of chromosome type 15|UPD(15)pat Orphanet:98795|ICD10:Q93.5|UMLS:CN207117 owl:Class MONDO:0017534 biolink:NamedThing postaxial polydactyly type B, bilateral tmpak2llvmy_mondo_relaxed.owl UMLS:CN203265|ICD10:Q69.0|Orphanet:295169 owl:Class MONDO:0012181 biolink:NamedThing hereditary spastic paraplegia 27 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 27, autosomal recessive|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|SPG27 UMLS:C1836899|Orphanet:101007|OMIM:609041|DOID:0110778|ICD10:G11.4|MESH:C563807 owl:Class MONDO:0007444 biolink:NamedThing dermal Ridges, patternless tmpak2llvmy_mondo_relaxed.owl dermal Ridges, patternless UMLS:C1852160|MESH:C565109|OMIM:125540 owl:Class HGNC:2708 biolink:NamedThing DCR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008189 biolink:NamedThing papillomatosis, florid, of nipple A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. tmpak2llvmy_mondo_relaxed.owl papillomatosis florid of nipple|erosive adenomatosis of the nipple|erosive adenomatosis of nipple|erosive nipple adenomatosis|florid papillomatosis|florid papillomatosis of the nipple|papillomatosis, florid, of nipple OMIM:167950|NCIT:C4383|GARD:0010174|SCTID:237467005|UMLS:C1868647|MESH:C537167 https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple owl:Class MONDO:0044624 biolink:NamedThing pediatric collagenous gastritis tmpak2llvmy_mondo_relaxed.owl childhood-onset collagenous gastritis Orphanet:487809 owl:Class MONDO:0006726 biolink:NamedThing diaphragmatic eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. tmpak2llvmy_mondo_relaxed.owl diaphragmatic eventration|diaphragmatic eventration (disease) diaphragmatic eventration (disease) SCTID:34168003|MESH:D003965|HP:0009110|DOID:10480|EFO:1000898|ICD10:Q79.1 owl:Class NCIT:C16956 biolink:NamedThing Pathologic Process tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006330 biolink:NamedThing ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. tmpak2llvmy_mondo_relaxed.owl ossifying fibromyxoid neoplasm|OFMT|ossifying fibromyxoma|ossifying fibromyxoid tumor (morphologic abnormality) EFO:1000408|SCTID:404076001|ICDO:8842/0|DOID:2685|ONCOTREE:OFMT|NCIT:C6582|UMLS:C1266128 owl:Class MONDO:0011406 biolink:NamedThing cholesteatoma, congenital tmpak2llvmy_mondo_relaxed.owl cholesteatoma, congenital SCTID:232262007|OMIM:604183|MESH:C562858 owl:Class HGNC:4942 biolink:NamedThing HLA-DQA1 tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03411374 biolink:NamedThing crustacean Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033537 biolink:NamedThing combined oxidative phosphorylation deficiency 47 tmpak2llvmy_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47|COXPD47 OMIM:618958 owl:Class MONDO:0025483 biolink:NamedThing mammary neoplasms, animal Tumors or cancer of the mammary gland in animals (mammary glands, animal). tmpak2llvmy_mondo_relaxed.owl mammary carcinomas, animal|mammary carcinoma, animal|carcinoma, animal mammary|mammary neoplasm, animal|mammary neoplasms|animal mammary neoplasms|carcinomas, animal mammary|animal mammary neoplasm|mammary neoplasm|animal mammary carcinomas|neoplasm, animal mammary|neoplasm, mammary|neoplasms, mammary|animal mammary carcinoma|neoplasms, animal mammary MESH:D015674 owl:Class MONDO:0003317 biolink:NamedThing metachronous kidney Wilms' tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. tmpak2llvmy_mondo_relaxed.owl metachronous Wilms tumor of the kidney|metachronous Wilms' tumor|metachronous Wilms tumor NCIT:C38158|UMLS:C1334705|DOID:5178 owl:Class CHEBI:47882 biolink:NamedThing cyclic polypyrrole tmpak2llvmy_mondo_relaxed.owl cyclic polypyrroles|macrocyclic polypyrroles|polypyrrole macrocycles owl:Class NCBITaxon:4753 biolink:NamedThing Pneumocystis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:44281 biolink:NamedThing Pneumocystidaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022737 biolink:NamedThing choroideremia hypopituitarism This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. tmpak2llvmy_mondo_relaxed.owl choroideraemia hypopituitarism|choroideremia hypopituitarism|choroideraemia co-occurrent with hypopituitarism|choroideremia co-occurrent with hypopituitarism SCTID:715417002|UMLS:C4275146|GARD:0001312 https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism owl:Class FOODON:03400289 biolink:NamedThing USA agency food product type Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0289 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class MONDO:0013844 biolink:NamedThing stuttering, familial persistent, 4 tmpak2llvmy_mondo_relaxed.owl STUT4|stuttering, familial persistent, 4 OMIM:614668|UMLS:C3553403 owl:Class MONDO:0011940 biolink:NamedThing mycobacterium tuberculosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to infection by|Mycobacterium tuberculosis, protection against|mycobacterium tuberculosis, susceptibility to GARD:0002456|MESH:C536092|OMIM:607948 Editor note: consider merge with parent. This OMIM ID seems to represent the whole series owl:Class MONDO:0015773 biolink:NamedThing fibular dimelia-diplopodia syndrome Fibular dimelia-diplopodia syndrome is a rare developmental anomaly. tmpak2llvmy_mondo_relaxed.owl leg duplication-mirror foot syndrome Orphanet:1757|UMLS:CN200350|SCTID:720953006|ICD10:Q74.8 owl:Class MONDO:0001727 biolink:NamedThing active cochleovestibular Meniere disease tmpak2llvmy_mondo_relaxed.owl active cochleovestibular Meniere disease|active cochleovestibular Meniere's disease|active Meniere's disease, cochleovestibular|cochleovestibular active Mnire's disease ICD9:386.01|DOID:13490|UMLS:C0155496|SCTID:194348002 owl:Class MONDO:0016605 biolink:NamedThing perinatal lethal hypophosphatasia A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. tmpak2llvmy_mondo_relaxed.owl perinatal lethal phosphoethanolaminuria|perinatal lethal Rathburn disease ICD10:E83.3|Orphanet:247623|UMLS:C2673477 owl:Class MONDO:0030018 biolink:NamedThing autoinflammation with episodic fever and lymphadenopathy tmpak2llvmy_mondo_relaxed.owl AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY|autoinflammation with episodic fever and lymphadenopathy|Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|AIEFL|Cria Syndrome OMIM:618852 owl:Class MONDO:0012600 biolink:NamedThing autism, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl AUTS9|autism, susceptibility to, 9 OMIM:611015 owl:Class MONDO:0014841 biolink:NamedThing trichothiodystrophy 6, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. tmpak2llvmy_mondo_relaxed.owl nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|TTD6|GTF2E2 nonphotosensitive trichothiodystrophy|trichothiodystrophy 6, nonphotosensitive|trichothiodystrophy 6, nonphotosensitive; TTD6 UMLS:C4310785|OMIM:616943 owl:Class MONDO:0000668 biolink:NamedThing autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. tmpak2llvmy_mondo_relaxed.owl DOID:0060138 owl:Class MONDO:0008773 biolink:NamedThing amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis tmpak2llvmy_mondo_relaxed.owl amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis MESH:C565960|GARD:0000763|OMIM:204730|UMLS:C1859818 https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis owl:Class MONDO:0015346 biolink:NamedThing Jeavons syndrome Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. tmpak2llvmy_mondo_relaxed.owl epilepsy with eyelid myoclonias|eyelid myoclonia with and without absences|EMEA UMLS:CN199399|ICD10:G40.3|SCTID:716278005|Orphanet:139431|UMLS:C4274731 owl:Class HGNC:12771 biolink:NamedThing CCN6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017836 biolink:NamedThing erythrokeratoderma en cocardes Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl erythrokeratoderma "en cocardes"|Degos genodermatosis "en cocardes"|erythrokeratoderma ''en cocardes''|Degos genodermatosis 'en cocardes'|erythrokeratoderma 'en cocardes'|Degos genodermatosis|Degos 'en cocarde' erythrokeratoderma ICD10:Q82.8|Orphanet:315|ICD9:447.8|SCTID:239062001|UMLS:CN203813|GARD:0001722 https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma owl:Class UBERON:0004869 biolink:NamedThing parietal organ A part of the epithalamus present in some animal species. The eye may be photoreceptive and is usually associated with the pineal gland, regulating circadian rhythmicity and hormone production for thermoregulation. The parietal eye is a part of the epithalamus, which can be divided into two major parts; the epiphysis (the pineal organ, or pineal gland if mostly endocrine) and the parietal organ (often called the parietal eye, or third eye if it is photoreceptive). It arises as an anterior evagination of the pineal organ or as a separate outgrowth of the roof of the diencephalon. In some species, it protrudes through the skull.[4] The parietal eye uses a different biochemical method of detecting light than rod cells or cone cells in a normal vertebrate eye[WP]. tmpak2llvmy_mondo_relaxed.owl third eye|parietal eye owl:Class MONDO:0017554 biolink:NamedThing radio-ulnar synostosis, unilateral tmpak2llvmy_mondo_relaxed.owl radio-ulnar fusion, unilateral UMLS:CN203290|Orphanet:295217|ICD10:Q74.0 owl:Class MONDO:0009909 biolink:NamedThing progesterone resistance tmpak2llvmy_mondo_relaxed.owl pseudocorpus luteum insufficiency|progesterone resistance MESH:C564871|UMLS:C1849699|OMIM:264080 owl:Class MONDO:0013480 biolink:NamedThing renal hypomagnesemia 6 tmpak2llvmy_mondo_relaxed.owl renal hypomagnesemia-6|hypomagnesemia 6, renal|HOMG6|renal hypomagnesemia type 6 OMIM:613882|UMLS:C3151295|DOID:0060884|ICD10:E83.4|GARD:0012155 https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 owl:Class MONDO:0018879 biolink:NamedThing lichen planopilaris Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. tmpak2llvmy_mondo_relaxed.owl follicular lichen planus|lichen planopilaris classic type|lichen planus follicularis|LPP|lichen follicularis|Kossard disease|frontal fibrosing alopecia (subtype) ICD10:L66.1|GARD:0003247|SCTID:64540004|MESH:C535892|Orphanet:525|UMLS:C0023645 owl:Class MONDO:0017918 biolink:NamedThing white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. tmpak2llvmy_mondo_relaxed.owl familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome|Curatolo Cilio Pessagno syndrome Orphanet:3207|UMLS:C2931292|MESH:C536701|GARD:0005560 https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome owl:Class MONDO:0001249 biolink:NamedThing trachoma A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. tmpak2llvmy_mondo_relaxed.owl trachoma dubium|active stage trachoma UMLS:C0040592|ICD9:076.9|ICD9:076.1|DOID:11265|MESH:D014141|ICD10:A71.0|ICD10:A71.1|GARD:0010374|ICD10:A71|ICD9:076.0|ICD9:076|SCTID:2576002|ICD10:A71.9 https://rarediseases.info.nih.gov/diseases/10374/trachoma owl:Class MONDO:0021723 biolink:NamedThing vaginismus Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection. tmpak2llvmy_mondo_relaxed.owl myalgia of pelvic floor|vaginismus ICD10:N94.2|MESH:D052065|UMLS:C2004487 owl:Class MONDO:0019606 biolink:NamedThing simple cryoglobulinemia Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. tmpak2llvmy_mondo_relaxed.owl cryoglobulinemia type 1 UMLS:C4510006|SCTID:723674005|Orphanet:91139|ICD10:D89.1|UMLS:CN206459 owl:Class GO:0036385 biolink:NamedThing nucleoid DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019025 biolink:NamedThing extracutaneous mastocytoma A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003 tmpak2llvmy_mondo_relaxed.owl extracutaneous mastocytoma SCTID:63175003|EFO:1000932|UMLS:C0272202|Orphanet:66662|DOID:4659|ICD10:C96.2|ICDO:9740/1|NCIT:C7136 owl:Class MONDO:0054601 biolink:NamedThing pituitary adenoma 5, multiple types tmpak2llvmy_mondo_relaxed.owl pituitary adenoma 5, multiple types|PITA5 OMIM:617540|UMLS:C4539685 owl:Class UBERON:0019189 biolink:NamedThing carotid artery endothelium tmpak2llvmy_mondo_relaxed.owl carotid endothelium|carotid epithelium owl:Class MONDO:0018922 biolink:NamedThing cold agglutinin disease Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C). tmpak2llvmy_mondo_relaxed.owl CAS|cold antibody hemolytic anemia|cold agglutinin syndrome|chronic cold agglutinin disease|anemia, hemolytic, cold antibody|cold antibody disease|CAD GARD:0006130|Orphanet:56425|ICD10:D59.1|SCTID:127055007|UMLS:C1264008|UMLS:CN205305 owl:Class UBERON:0004549 biolink:NamedThing right eye An eye that is part of a right side of organism [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl right orbital region|right eyeball|right orbital part of face owl:Class MONDO:0011180 biolink:NamedThing broad terminal phalanges, familial tmpak2llvmy_mondo_relaxed.owl broad terminal phalanges, familial MESH:C566588|UMLS:C1865923|OMIM:602071 owl:Class MONDO:0011598 biolink:NamedThing atopic dermatitis 4 An atopic dermatitis associated with variation in the region 17q25.3. tmpak2llvmy_mondo_relaxed.owl atopic dermatitis type 4|ATOD4|dermatitis, ATOPIC, 4 UMLS:C1853963|MESH:C565291|OMIM:605805|DOID:0110100 owl:Class MONDO:0020852 biolink:NamedThing spermatogenic failure 31 tmpak2llvmy_mondo_relaxed.owl SPGF31|spermatogenic failure 31 OMIM:618112 owl:Class HGNC:19087 biolink:NamedThing EBF3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8727 biolink:NamedThing PCM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006824 biolink:NamedThing Krebs 2 carcinoma Carcinoma having known association to krebs2 gene mutation tmpak2llvmy_mondo_relaxed.owl UMLS:C0007128|MESH:D002287|EFO:1001007 owl:Class MONDO:0008533 biolink:NamedThing teeth, supernumerary An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. tmpak2llvmy_mondo_relaxed.owl teeth, supernumerary MESH:D014096|ICD10:K00.1|OMIM:187100|SCTID:8666004 owl:Class MONDO:0012175 biolink:NamedThing cataract 28 A cataract that has material basis in variation in the region 6p12-q12. tmpak2llvmy_mondo_relaxed.owl age-related cortical cataract 1|ARCC1|CTRCT28|cataract 28|cataract type 28|cataract, age-related cortical, 1 MESH:C563812|OMIM:609026|DOID:0110244|UMLS:C1836942 owl:Class MONDO:0007270 biolink:NamedThing cardiomyopathy, familial restrictive, 1 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpak2llvmy_mondo_relaxed.owl RCM1|cardiomyopathy, familial restrictive, type 1|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial restrictive, 1|Rcm|TNNI3 familial isolated restrictive cardiomyopathy DOID:0111425|UMLS:C1861861|OMIM:115210|MESH:C566168 owl:Class MONDO:0011109 biolink:NamedThing multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype MESH:C563291|Orphanet:166016|OMIM:601560|SCTID:768935003|ICD10:Q78.8|UMLS:C1832112 owl:Class UBERON:0034994 biolink:NamedThing hindbrain cortical intermediate zone tmpak2llvmy_mondo_relaxed.owl hindbrain mantle layer owl:Class UBERON:0004040 biolink:NamedThing cortical intermediate zone The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone tmpak2llvmy_mondo_relaxed.owl cerebral cortex mantle layer|cortical mantle layer|cerebral cortex mantle zone|IZ owl:Class UBERON:0005234 biolink:NamedThing optic eminence ectoderm An ectoderm that is part of a optic eminence [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023282 biolink:NamedThing granulomatous hypophysitis Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. tmpak2llvmy_mondo_relaxed.owl idiopathic granulomatous hypophysitis GARD:0006547 https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis owl:Class MONDO:0010483 biolink:NamedThing X-linked intellectual disability, Cantagrel type X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked type 98|MRX98|intellectual disability, X-linked 98|mental retardation, X-linked 98|mental retardation, X-linked type 98 Orphanet:85277|ICD10:Q87.8|SCTID:719016007|OMIM:300912|UMLS:C3806730 owl:Class MONDO:0006684 biolink:NamedThing brain edema Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) tmpak2llvmy_mondo_relaxed.owl intracranial swelling|wet brain MESH:D001929|DOID:4724|EFO:1000845|MedDRA:10006121|SCTID:2032001|ICD9:348.5 owl:Class GO:0030263 biolink:NamedThing apoptotic chromosome condensation The compaction of chromatin during apoptosis. tmpak2llvmy_mondo_relaxed.owl pyknosis owl:Class HP:0010311 biolink:NamedThing Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. tmpak2llvmy_mondo_relaxed.owl Absent/small breasts|Absent/underdeveloped breasts UMLS:C4023911 peter 2009-07-12T02:31:49Z human_phenotype owl:Class MONDO:0006970 biolink:NamedThing sialolithiasis A concretion in the salivary gland. tmpak2llvmy_mondo_relaxed.owl sialolith|Stone of salivary gland or duct|salivary gland Stone ICD10:K11.5|MESH:D015494|DOID:12905|MedDRA:10040631|UMLS:C0036091|EFO:1001180|SCTID:28826002|ICD9:527.5 owl:Class MONDO:0033532 biolink:NamedThing Suleiman-El-Hattab syndrome tmpak2llvmy_mondo_relaxed.owl SULEIMAN-EL-HATTAB SYNDROME|SULEHS OMIM:618950 owl:Class MONDO:0007517 biolink:NamedThing ectrodactyly-cleft palate syndrome tmpak2llvmy_mondo_relaxed.owl ectrodactyly-cleft palate syndrome|Ecp syndrome Orphanet:1889|UMLS:C1851848|UMLS:CN229012|MESH:C565064|OMIM:129830 owl:Class MONDO:0006995 biolink:NamedThing tethered spinal cord syndrome A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. tmpak2llvmy_mondo_relaxed.owl spinal cord syndrome|tethered cord DOID:1089|SCTID:249491000119100|ICD9:741|ICD10:Q05.9|ICD10:Q05|EFO:1001210|NCIT:C99080|ICD9:756.19 owl:Class MONDO:0020433 biolink:NamedThing ectasia of the left appendage Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. tmpak2llvmy_mondo_relaxed.owl dilatation of the left appendage|dilatation of the left atrial appendage|dilatation of the left auricle|ectasia of the left atrial appendage|ectasia of the left auricle Orphanet:99102|ICD10:Q20.8 owl:Class MONDO:0013957 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG).. tmpak2llvmy_mondo_relaxed.owl Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 32A|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|MSMD due to partial IRF8 deficiency|MSMD due to partial interferon regulatory factor 8 deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|IRF8 deficiency, autosomal dominant|immunodeficiency type 32A|IMD32A|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8 UMLS:C3808589|ICD10:D84.8|OMIM:614893|Orphanet:319600 owl:Class MONDO:0042975 biolink:NamedThing pseudoachondroplastic dysplasia 2 tmpak2llvmy_mondo_relaxed.owl recessive pseudoachondroplasia|pseudoachondroplastic dysplasia 2|spondyloepiphyseal dysplasia pseudoachondroplastic 2 GARD:0004542|UMLS:C2931030|MESH:C535820|MEDGEN:418965 owl:Class MONDO:0012243 biolink:NamedThing B-cell immunodeficiency, distal limb anomalies, and urogenital malformations tmpak2llvmy_mondo_relaxed.owl B-cell immunodeficiency, distal limb anomalies, and urogenital malformations|Hoffman syndrome|Bilu syndrome UMLS:C1836437|MESH:C563745|OMIM:609296 owl:Class NCBITaxon:68336 biolink:NamedThing Bacteroidetes/Chlorobi group tmpak2llvmy_mondo_relaxed.owl Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group|CFB/Chlorobi group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0033262 biolink:NamedThing nephrotic syndrome 15 tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome 15|nephrotic syndrome, type 15|NPHS15 DOID:0080271|OMIM:617609|UMLS:CN388854 owl:Class MONDO:0010158 biolink:NamedThing T-substance anomaly tmpak2llvmy_mondo_relaxed.owl T-substance anomaly OMIM:276200 owl:Class MONDO:0016413 biolink:NamedThing congenital hypothyroidism due to maternal intake of antithyroid drugs tmpak2llvmy_mondo_relaxed.owl ICD10:P72.2|Orphanet:226313 owl:Class HGNC:9280 biolink:NamedThing PPOX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010336 biolink:NamedThing orofaciodigital syndrome VIII Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. tmpak2llvmy_mondo_relaxed.owl oral-facial-digital syndrome, Edwards type|orofaciodigital syndrome, Edwards type|OFD8|OFD syndrome 8|orofaciodigital syndrome type VIII|oral-facial-digital syndrome type 8|orofaciodigital syndrome VIII|orofaciodigital syndrome 8|oral-Facial-digital syndrome, type 8|oral facial digital syndrome 8|Ofds 8|oral facial digital syndrome type 8|orofaciodigital syndrome type 8|oral-Facial-digital syndrome with hypoplastic Epiglottis SCTID:722106001|MESH:C557820|OMIM:300484|Orphanet:2755|GARD:0004060|ICD10:Q87.0|DOID:0060378 owl:Class PO:0009012 biolink:NamedThing plant structure development stage A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes. tmpak2llvmy_mondo_relaxed.owl etapa de desarrollo de estructura vegetal (Spanish, exact)|Arabidopsis growth (related)|plant growth and development stage (exact) PO_GIT:185 Refers to GO:0032502 'developmental process', which includes growth, differentiation, and senescence, and BFO:0000003 'ocurrent'. PO:0007021 plant_structure_development_stage owl:Class MONDO:0005680 biolink:NamedThing Brill-Zinsser disease A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. tmpak2llvmy_mondo_relaxed.owl sporadic typhus|Brill's disease|Brill disease|recrudescent typhus|Brill Zinsser disease|latent typhus Orphanet:99990|EFO:0007182|ICD10:A75.1|ICD9:081.1|SCTID:47761007|DOID:11254|UMLS:C0006181 owl:Class MONDO:0600003 biolink:NamedThing bacterial hemorrhagic fever A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus. tmpak2llvmy_mondo_relaxed.owl haemorrhagic fever, bacterial|bacterial haemorrhagic fever owl:Class MONDO:0012879 biolink:NamedThing schizophrenia 14 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. tmpak2llvmy_mondo_relaxed.owl Sczd14|schizophrenia type 14|SCZD14|schizophrenia 14|schizophrenia susceptibility locus, chromosome 2Q32-related DOID:0070090|OMIM:612361|UMLS:C2677614 owl:Class MONDO:0043529 biolink:NamedThing carcinoid heart disease Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. tmpak2llvmy_mondo_relaxed.owl heart disease, carcinoid|carcinoid heart disease|carcinoid heart diseases|heart diseases, carcinoid MESH:D002275|EFO:1001775|UMLS:C0007093|SCTID:36222008 owl:Class MONDO:0009975 biolink:NamedThing reticulum cell sarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes. tmpak2llvmy_mondo_relaxed.owl reticulosarcoma|histiocytic lymphoma|interdigitating cell sarcoma|large-cell Lymphomas|reticulum cell sarcoma|reticular cell sarcoma|Reticulum cell sarcoma|sarcoma of reticular cell Orphanet:86900|NCIT:C27824|ICD9:200.0|DOID:8538|OMIM:267730|SCTID:373168002|ICD9:200.7|ICD9:200.00|MedDRA:10038804|ICD10:C96.4|EFO:0005287 Editor note: check this owl:Class MONDO:0012996 biolink:NamedThing AGAT deficiency L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. tmpak2llvmy_mondo_relaxed.owl GATM deficiency|disorder of glycine amidinotransferase activity|CCDS3|AGAT deficiency|cerebral creatine deficiency syndrome 3|arginine:glycine amidinotransferase deficiency|cerebral creatine deficiency syndrome type 3|glycine amidinotransferase activity disease|creatine deficiency syndrome due to AGAT deficiency|L-arginine:glycine amidinotransferase deficiency OMIM:612718|GARD:0010323|MESH:C567192|SCTID:702440000|ICD9:270.8|UMLS:C2675179|DOID:0050712|ICD10:E72.8|Orphanet:35704 owl:Class MONDO:0013332 biolink:NamedThing brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability tmpak2llvmy_mondo_relaxed.owl brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability OMIM:613627|UMLS:C3150890|SCTID:719162001 owl:Class MONDO:0015061 biolink:NamedThing neurogenic thoracic outlet syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. tmpak2llvmy_mondo_relaxed.owl neurogenic cervical rib syndrome|NTOS|neurogenic TOS|neurogenic costoclavicular syndrome|neurogenic thoracic outlet compression syndrome UMLS:C0751549|Orphanet:100073|SCTID:2040007|ICD10:G54.0 owl:Class MONDO:0030849 biolink:NamedThing intellectual developmental disorder with speech delay and axonal peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl IDDSAPN OMIM:619099 owl:Class MPATH:1000 biolink:NamedThing pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002663 biolink:NamedThing myocardial endocrine cell of atrium A myocardial endocrine cell that is part of the atrium. tmpak2llvmy_mondo_relaxed.owl FMA:83389 tmeehan 2011-07-11T02:45:39Z cell owl:Class HGNC:7982 biolink:NamedThing NR4A3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013969 biolink:NamedThing combined oxidative phosphorylation defect type 11 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 11|combined oxidative phosphorylation deficiency caused by mutation in RMND1|combined oxidative phosphorylation defect type 11|combined oxidative phosphorylation deficiency type 11|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|COXPD11|RMND1 combined oxidative phosphorylation deficiency UMLS:C3554067|OMIM:614922|DOID:0111481|ICD10:G31.8|Orphanet:324535 owl:Class HGNC:11506 biolink:NamedThing SYP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010147 biolink:NamedThing tongue, pigmented fungiform papillae of tmpak2llvmy_mondo_relaxed.owl tongue, pigmented fungiform papillae of OMIM:275250|UMLS:C1848756 owl:Class MONDO:0030961 biolink:NamedThing Olmsted syndrome 2 tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2|OLMS2|Olmsted syndrome 2 OMIM:619208 owl:Class GO:0048193 biolink:NamedThing Golgi vesicle transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. tmpak2llvmy_mondo_relaxed.owl Golgi-derived vesicle transport owl:Class HGNC:6357 biolink:NamedThing KLK1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:30892 biolink:NamedThing HUWE1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044033 biolink:NamedThing posterior leukoencephalopathy syndrome An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. tmpak2llvmy_mondo_relaxed.owl posterior reversible encephalopathy syndrome|leukoencephalopathy syndrome, Posterior|reversible occipital parietal encephalopathy|reversible posterior leukoencephalopathy syndrome|syndrome, Posterior leukoencephalopathy|Posterior reversible encephalopathy syndrome|leukoencephalopathy syndromes, Posterior|reversible Posterior leukoencephalopathy syndrome|syndromes, Posterior leukoencephalopathy|PRES|RPLE|reversible Posterior cerebral edema syndrome EFO:1001804|MESH:D054038|SCTID:450886002|NCIT:C78598 owl:Class MONDO:0004594 biolink:NamedThing puerperal pulmonary embolism tmpak2llvmy_mondo_relaxed.owl ICD9:673.80|ICD9:673|ICD10:O88.23|ICD10:O88.21|SCTID:200284000|ICD9:673.81|DOID:8512 owl:Class MONDO:0013311 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome type 1|EDSS1|ectodermal dysplasia-syndactyly syndrome 1|EDSS Orphanet:247820|OMIMPS:613573|UMLS:CN228599|ICD10:Q82.8 owl:Class MONDO:0010769 biolink:NamedThing hairy ears, Y-linked tmpak2llvmy_mondo_relaxed.owl hypertrichosis pinnae auris, Y-linked|hairy ears, Y-linked MESH:C564029|UMLS:C1839070|OMIM:425500 owl:Class MONDO:0009472 biolink:NamedThing acetylation, slow tmpak2llvmy_mondo_relaxed.owl acetylation, Fast|Fast acetylator phenotype|acetylation, slow|Isoniazid inactivation, slow|slow acetylator phenotype|INH inactivation, slow|INH inactivation, Fast OMIM:243400 owl:Class HGNC:21191 biolink:NamedThing DAOA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0025481 biolink:NamedThing zoonosis An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). tmpak2llvmy_mondo_relaxed.owl diseases, zoonotic|disease, zoonotic infectious|zoonotic diseases|infection, zoonotic|diseases, zoonotic infectious|zoonotic infectious diseases|zoonotic infectious disease|infectious disease, zoonotic|zoonotic infection|disease, zoonotic|zoonotic disease|zoonoses|infectious diseases, zoonotic|infections, zoonotic|zoonotic infections MESH:D015047|Wikipedia:Zoonosis|NCIT:C35803|UMLS:C0043528 owl:Class UBERON:0012490 biolink:NamedThing muscle layer of anal canal A muscular coat that is part of a anal canal. tmpak2llvmy_mondo_relaxed.owl muscularis propria of anal canal|muscularis externa of anal canal|muscular coat of anal canal|anal canal muscularis propria|muscular layer of anal canal|anal muscularis propria owl:Class MONDO:0015420 biolink:NamedThing cleft lip and alveolus Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. tmpak2llvmy_mondo_relaxed.owl ICD10:Q36.0|ICD10:Q36.9|ICD9:525.8|Orphanet:141291|SCTID:373643003|ICD10:Q36.1 owl:Class IAO:8000002 biolink:NamedThing editors ontology module An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users. tmpak2llvmy_mondo_relaxed.owl source ontology module editors ontology module owl:Class HGNC:4458 biolink:NamedThing GPI tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044633 biolink:NamedThing idiopathic pleuroparenchymal fibroelastosis tmpak2llvmy_mondo_relaxed.owl IPPFE|idiopathic pleuropulmonary fibroelastosis Orphanet:494428 owl:Class MONDO:0024343 biolink:NamedThing pityriasis simplex tmpak2llvmy_mondo_relaxed.owl dandruff|pityriasis simplex|furfuracea ICD9:690.18|SCTID:200767005 owl:Class MONDO:0013045 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3|MTBS3 OMIM:612929 owl:Class HGNC:6493 biolink:NamedThing LAMC2 tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01001813 biolink:NamedThing construction A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6439 biolink:NamedThing KRT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009233 biolink:NamedThing Fibulo-ulnar hypoplasia-renal anomalies syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl Fibulo ulnar hypoplasia renal anomalies|Saito Kuba Tsuruta syndrome|Saito-Kuba-Tsuruta syndrome|FIBULOULNAR aplasia or hypoplasia with renal abnormalities GARD:0000320|MESH:C537226|OMIM:228940|ICD10:Q87.8|SCTID:716094008|UMLS:C1856727|Orphanet:2256 owl:Class OBO:CHR_9606-chr17q21.31 biolink:NamedThing chr17q21.31 (Human) tmpak2llvmy_mondo_relaxed.owl 46800000 42800000 hg38 owl:Class MONDO:0004801 biolink:NamedThing unilateral hypoactive labyrinth tmpak2llvmy_mondo_relaxed.owl DOID:9496|ICD9:386.53|UMLS:C0155517 owl:Class UBERON:0015150 biolink:NamedThing dorsal hair A strand of hair that is part of a dorsum. tmpak2llvmy_mondo_relaxed.owl hair of back|dorsal coat hair|back hair owl:Class HGNC:30022 biolink:NamedThing PPARGC1B tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11617 biolink:NamedThing Arenaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008067 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl Npca2|nasopharyngeal carcinoma, susceptibility to, 2|NPCA2|nasopharyngeal carcinoma, susceptibility to, type 2 UMLS:C2750548|OMIM:161550|GARD:0007163 owl:Class MONDO:0006554 biolink:NamedThing granuloma annulare Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. tmpak2llvmy_mondo_relaxed.owl Granulome annulare|granuloma annulare EFO:1000704|DOID:3777|ICD10:L92.0|GARD:0006546|ICD9:709.8|Wikipedia:Granuloma_annulare|MESH:D016460|NCIT:C3470|SCTID:65508009|UMLS:C0085074 https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare owl:Class MONDO:0007976 biolink:NamedThing mesomelic dwarfism of hypoplastic tibia and radius type tmpak2llvmy_mondo_relaxed.owl mesomelic dwarfism of hypoplastic tibia and radius type GARD:0007313|OMIM:156230|UMLS:C1835010|MESH:C563589 https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type owl:Class MONDO:0011265 biolink:NamedThing tooth agenesis, selective, 2 tmpak2llvmy_mondo_relaxed.owl STHAG2|hypodontia/oligodontia 2|tooth agenesis, selective, 2 MESH:C566513|OMIM:602639|UMLS:C1865092 owl:Class MONDO:0017113 biolink:NamedThing isolated bilateral hemispheric cerebellar hypoplasia Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. tmpak2llvmy_mondo_relaxed.owl Orphanet:269221|ICD10:Q04.3 owl:Class MONDO:0009496 biolink:NamedThing Kniest-like dysplasia with pursed lips and ectopia lentis tmpak2llvmy_mondo_relaxed.owl Kniest-like dysplasia with pursed lips and ectopia lentis|burton syndrome UMLS:C1855606|OMIM:245160|GARD:0010512 owl:Class CHEBI:35442 biolink:NamedThing antiparasitic agent A substance used to treat or prevent parasitic infections. tmpak2llvmy_mondo_relaxed.owl antiparasitic drugs|antiparasitics|parasiticides owl:Class MONDO:0017057 biolink:NamedThing hereditary thrombocytopenia with normal platelets tmpak2llvmy_mondo_relaxed.owl Orphanet:268322|UMLS:CN227073|ICD10:D69.4 owl:Class MONDO:0026731 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 8 tmpak2llvmy_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8|CHNG8 OMIM:301033 owl:Class MONDO:0024316 biolink:NamedThing physiological malfunction arising from mental factor A dysfunction in biological function that is due to a psychological process. tmpak2llvmy_mondo_relaxed.owl physiological malfunction arising from mental Factor NCIT:C35186|UMLS:C0154548 owl:Class MONDO:0003966 biolink:NamedThing testicular monophasic choriocarcinoma A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. tmpak2llvmy_mondo_relaxed.owl NCIT:C39935|DOID:6693|UMLS:C1515290 owl:Class ENVO:01001346 biolink:NamedThing erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011978 biolink:NamedThing CoQ-responsive OXPHOS deficiency tmpak2llvmy_mondo_relaxed.owl CoQ-responsive OXPHOS deficiency|CoQ-responsive oxidative phosphorylation disorder UMLS:C1842463|OMIM:608158|GARD:0010240|MESH:C535470 owl:Class MONDO:0019558 biolink:NamedThing discoid lupus erythematosus A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). tmpak2llvmy_mondo_relaxed.owl DLE MedDRA:10013072|UMLS:C0024138|SCTID:200938002|NCIT:C26820|ICD10:L93.0|MESH:D008179|Orphanet:90281 owl:Class NCBITaxon:86661 biolink:NamedThing Bacillus cereus group tmpak2llvmy_mondo_relaxed.owl PMID:23475340|GC_ID:11|PMID:1715736|PMID:26373441 ncbi_taxonomy owl:Class HP:0012418 biolink:NamedThing Hypoxemia An abnormally low level of blood oxygen. tmpak2llvmy_mondo_relaxed.owl Hypoxia|Low blood oxygen level MSH:D000860|SNOMEDCT_US:389087006|UMLS:C0700292 Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:07:07Z human_phenotype owl:Class MONDO:0034216 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha tmpak2llvmy_mondo_relaxed.owl resistance to thyroid hormone alpha Orphanet:566231 owl:Class HP:0000870 biolink:NamedThing Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. tmpak2llvmy_mondo_relaxed.owl Prolactin excess|Hyperprolactinaemia|Hyperprolactinemia MSH:D006966|SNOMEDCT_US:237662005|UMLS:C0020514 human_phenotype owl:Class MONDO:0030974 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 4 tmpak2llvmy_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 4|MC2DN4 OMIM:619224 owl:Class MONDO:0011754 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 2 tmpak2llvmy_mondo_relaxed.owl hyperreninemic hypoaldosteronism, familial, type 2|hyperreninemic hypoaldosteronism, familial, 2|FHHA2|Fhha2|aldosterone synthase deficiency unrelated to CYP11B2|aldosterone synthase deficiency unrelated to the aldosterone synthase gene OMIM:606984|Orphanet:99764|UMLS:C1846990|MESH:C564638|ICD10:E27.4 owl:Class MONDO:0030066 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, 5 tmpak2llvmy_mondo_relaxed.owl granulomatous disease, chronic, autosomal recessive, 5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|CGD5|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 OMIM:618935 owl:Class MONDO:0054869 biolink:NamedThing nondystrophic myotonia tmpak2llvmy_mondo_relaxed.owl NDM MESH:C536245|GARD:0009852 owl:Class MONDO:0008212 biolink:NamedThing Pechet factor deficiency tmpak2llvmy_mondo_relaxed.owl Dynia factor deficiency|Pechet factor deficiency UMLS:C1868545|MESH:C566814|OMIM:169200 owl:Class MONDO:0030917 biolink:NamedThing intellectual disability, autosomal dominant 51 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 51|autosomal dominant intellectual disability 51|MRD51|autosomal dominant mental retardation 51|intellectual disability, autosomal dominant 51 OMIM:617788|UMLS:CN671931|DOID:0080232 owl:Class MONDO:0001259 biolink:NamedThing pituitary gland infarction Ischemic necrosis of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl pituitary infarction|pituitary gland infarction|pituitary infarct NCIT:C27117|ICD9:253.8|SCTID:95830009|UMLS:C0342405|DOID:1130 owl:Class MONDO:0002721 biolink:NamedThing necrosis of pituitary Ischemic or hemorrhagic necrosis of the pituitary gland. tmpak2llvmy_mondo_relaxed.owl pituitary gland Necrosis|pituitary necrosis UMLS:C0271558|SCTID:59572000|DOID:3646|NCIT:C27066 owl:Class MONDO:0008290 biolink:NamedThing porokeratosis 1, Mibelli type tmpak2llvmy_mondo_relaxed.owl porokeratosis 1, multiple types|porokeratosis 1, MIBELLI type|POROK1|porokeratosis of Mibelli OMIM:175800 owl:Class MONDO:0001643 biolink:NamedThing exophthalmic ophthalmoplegia tmpak2llvmy_mondo_relaxed.owl UMLS:C0152135|DOID:13135|ICD9:376.22|SCTID:69763009 owl:Class MONDO:0012028 biolink:NamedThing autoimmune disease, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl autoimmune disease susceptibility locus, chromosome 8-related|vitiligo-associated multiple autoimmune disease susceptibility 4|autoimmune disease, susceptibility to, 3|AIS3 OMIM:608392 owl:Class GO:0016407 biolink:NamedThing acetyltransferase activity Catalysis of the transfer of an acetyl group to an acceptor molecule. tmpak2llvmy_mondo_relaxed.owl acetylase activity owl:Class MONDO:0005127 biolink:NamedThing lepromatous leprosy A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. tmpak2llvmy_mondo_relaxed.owl type L leprosy|lepromatous leprosy [type L] MESH:D015440|EFO:0001057|ICD9:030.0|DOID:10887|ICD10:A30.5|UMLS:C0023348|SCTID:21560005 owl:Class MONDO:0054752 biolink:NamedThing multiple synostoses syndrome 4 tmpak2llvmy_mondo_relaxed.owl SYNS4|multiple synostoses syndrome 4 OMIM:617898|UMLS:CN842246 owl:Class FOODON:00002505 biolink:NamedThing dairy cattle Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made. This class covers both male and female members of a dairy breed. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017297 biolink:NamedThing chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids tmpak2llvmy_mondo_relaxed.owl CLIPPERS GARD:0010779|Orphanet:284448|UMLS:C3854437 owl:Class MONDO:0006729 biolink:NamedThing discrete subaortic stenosis A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. tmpak2llvmy_mondo_relaxed.owl EFO:1000901|UMLS:C0012628|MESH:D021922|DOID:5804 owl:Class MONDO:0006987 biolink:NamedThing subvalvular aortic stenosis An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. tmpak2llvmy_mondo_relaxed.owl MedDRA:10042431|UMLS:C0340375|DOID:5805|EFO:1001199|GARD:0005052|SCTID:204368006|MESH:D001020 https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis owl:Class HP:0010974 biolink:NamedThing Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. tmpak2llvmy_mondo_relaxed.owl Abnormality of myeloid leukocytes UMLS:C4023618 A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. peter 2011-02-06T09:24:46Z human_phenotype owl:Class MONDO:0008259 biolink:NamedThing familial spontaneous pneumothorax Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. tmpak2llvmy_mondo_relaxed.owl spontaneous pneumothorax|pneumothorax, primary spontaneous|primary spontaneous pneumothorax|Psp OMIM:173600|DOID:0080218|ICD10:J93.1|MESH:C566795|Orphanet:2903|UMLS:C4275252|UMLS:C1868193|SCTID:715219001|GARD:0004997 owl:Class HP:0000858 biolink:NamedThing Irregular menstruation Abnormally high variation in the amount of time between periods. tmpak2llvmy_mondo_relaxed.owl Menstrual irregularity|Irregular menses|Irregular periods|Menstrual irregularities UMLS:C0156404|SNOMEDCT_US:80182007 Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. human_phenotype owl:Class CHEBI:50336 biolink:NamedThing 4-hydroxybenzyl group tmpak2llvmy_mondo_relaxed.owl 4-hydroxybenzyl|tyrosine side-chain owl:Class MONDO:0010968 biolink:NamedThing glaucoma 3, primary infantile, B tmpak2llvmy_mondo_relaxed.owl glaucoma primary congenita type 3B|glaucoma, primary congenital, type B|glaucoma 3 primary infantile B|Glc3, type B|primary congenital glaucoma type 3B|GLC3 type B|primary congenital glaucoma|glaucoma 3, primary infantile, B|GLC3B MESH:C536824|OMIM:600975|UMLS:C1832977|GARD:0002490 https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b owl:Class MONDO:0007773 biolink:NamedThing hyperproglucagonemia tmpak2llvmy_mondo_relaxed.owl glucagon, large molecular weight species of|hyperproglucagonemia OMIM:145270|UMLS:C1840388|MESH:C564159 owl:Class MONDO:0019591 biolink:NamedThing panhypopituitarism Insufficient production of all the anterior pituitary hormones. tmpak2llvmy_mondo_relaxed.owl Simmonds' disease|complete hypopituitarism|Simmond's disease NCIT:C110940|DOID:9410|UMLS:C0242343|ICD9:253.2|SCTID:32390006|MedDRA:10033662|Orphanet:90695|ICD10:E23.0 owl:Class MONDO:0010984 biolink:NamedThing Usher syndrome type 1D A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner. tmpak2llvmy_mondo_relaxed.owl Usher syndrome type 1D|Usher syndrome type ID|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|USHER syndrome, type ID|Usher syndrome, type 1D|USH1D|Ush1D/F, Cdh23/Pcdh15, digenic ICD10:H35.5|GARD:0005438|DOID:0110831|OMIM:601067 https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d owl:Class MONDO:0017508 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, bilateral tmpak2llvmy_mondo_relaxed.owl digits 2-5 oligodactyly, bilateral|digits 2-5 hypodactyly, bilateral|Adactyly of hand, bilateral Orphanet:295114|ICD10:Q71.3 owl:Class MONDO:0007096 biolink:NamedThing amenorrhea-galactorrhea syndrome tmpak2llvmy_mondo_relaxed.owl amenorrhea-galactorrhea syndrome UMLS:C0271556|MESH:C537072|SCTID:64678009|ICD9:253.1|OMIM:104600 owl:Class MONDO:0007470 biolink:NamedThing calvarial doughnut lesions-bone fragility syndrome This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. tmpak2llvmy_mondo_relaxed.owl doughnut lesions of skull, familial|familial doughnut lesions of skull Orphanet:85192|SCTID:720598005|MESH:C565089|OMIM:126550|ICD10:M85.8|UMLS:C1852022 owl:Class MONDO:0010085 biolink:NamedThing Schilder disease Schilder's disease is a progressive demyelinating disorder of the central nervous system. tmpak2llvmy_mondo_relaxed.owl Myelinoclastic diffuse sclerosis|SUDANOPHILIC cerebral sclerosis|Schilder disease|Schilder's disease UMLS:C0007795|ICD10:G37.0|SCTID:49692006|OMIM:272100|ICD9:341.1|Orphanet:59298 owl:Class HGNC:5111 biolink:NamedThing HOXB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017952 biolink:NamedThing non-familial rare disease with dilated cardiomyopathy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:324767|UMLS:CN204097 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disease or disorder' MONDO_0000001 owl:Class HGNC:12744 biolink:NamedThing MLXIPL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022208 biolink:NamedThing crystal arthropathy tmpak2llvmy_mondo_relaxed.owl Crystal Arthritides|Arthropathy, Crystal|Arthropathies, Crystalline|Crystalline arthritis|Crystalline Arthropathies|crystal-related arthropathy and periarthropathy|Crystal Arthropathies|Crystal-induced arthritis AND/OR synovitis|Arthritides, Crystalline|Crystalline Arthritis|Crystal-related arthropathy and periarthropathy|Arthritis, Crystal|Arthropathy, Crystalline|Crystal Arthritis|crystal-induced arthritis and/or synovitis|Crystal Arthropathy|Crystalline Arthritides|Arthritides, Crystal|crystal arthropathy|Arthritis, Crystalline|Arthropathies, Crystal|Crystalline Arthropathy|crystalline arthritis|Crystal arthropathy MEDGEN:508879|ICD9:712.80|ICD9:712|GARD:0012802|UMLS:C0152087|SCTID:18834007|ICD9:712.88|ICD9:712.90|ICD9:712.98 owl:Class MONDO:0018835 biolink:NamedThing nodular regenerative hyperplasia of the liver Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. tmpak2llvmy_mondo_relaxed.owl nodular regenerative hyperplasia|non-cirrhotic nodulation|miliary hepatocellular adenomatosis|non-cirrhotic portal hypertension|non-cirrhotic nodular transformation GARD:0010929|SCTID:715140008|UMLS:CN205145|Orphanet:48372|ICD9:573.8|ICD10:K76.8 owl:Class MONDO:0016975 biolink:NamedThing thymoma type AB A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years. tmpak2llvmy_mondo_relaxed.owl primary thymic epithelial neoplasm type AB|mixed type thymoma|thymoma, mixed type|thymoma type AB|primary thymic epithelial tumor type AB Orphanet:263324|ICD10:D15.0|ICDO:8582/1|DOID:3280|EFO:1000582|ICD10:C37|NCIT:C6885|UMLS:C1266092 owl:Class MONDO:0011396 biolink:NamedThing keratoderma hereditarium mutilans with ichthyosis Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl Vohwinkel syndrome, variant form|mutilating keratoderma with ichthyosis|Vohwinkel syndrome with ichthyosis|Camisa disease|Loricrin keratoderma|keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Orphanet:79395|MESH:C565826|SCTID:717183001|UMLS:C1858805|OMIM:604117|ICD10:Q82.8 owl:Class MONDO:0011525 biolink:NamedThing Carney complex type 2 tmpak2llvmy_mondo_relaxed.owl CNC2|Carney complex, type 2|Carney Myxoma-endocrine Complex, type 2 OMIM:605244 owl:Class MONDO:0019879 biolink:NamedThing distal trisomy 4q Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. tmpak2llvmy_mondo_relaxed.owl distal trisomy type 4q|trisomy 4qter|distal duplication 4q|telomeric duplication 4q Orphanet:96096|ICD10:Q92.3|SCTID:763273008 owl:Class HGNC:19165 biolink:NamedThing TBC1D4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008600 biolink:NamedThing trigger thumb A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). tmpak2llvmy_mondo_relaxed.owl trigger thumb|recurrent trigger thumb (type)|congenital trigger thumb (type)|bilateral trigger thumb (type) UMLS:C0158328|GARD:0008484|MESH:D052582|OMIM:190410|SCTID:42786005 https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb owl:Class MONDO:0002199 biolink:NamedThing benign mixed tumor of the vulva A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. tmpak2llvmy_mondo_relaxed.owl chondroid syringoma of the vulva|benign mixed tumor of the vulva NCIT:C40302|UMLS:C1511091|DOID:2078 owl:Class MONDO:0011991 biolink:NamedThing autosomal recessive nonsyndromic deafness 38 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 38|DFNB38|deafness, autosomal recessive 38|autosomal recessive nonsyndromic deafness type 38 OMIM:608219|MESH:C564273|DOID:0110496|UMLS:C1842381|ICD10:H90.3 owl:Class MONDO:0100396 biolink:NamedThing acute myeloid leukemia, t(7;12)(q36;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.) tmpak2llvmy_mondo_relaxed.owl AML, t(7;12)(q36;p13) NCIT:C122690 owl:Class MONDO:0010152 biolink:NamedThing trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. tmpak2llvmy_mondo_relaxed.owl trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|eyelashes, long with intellectual disability|eyelashes, long, with intellectual disability|Oliver McFarlane syndrome|eyelashes, long, with mental retardation|Oliver-McFarlane syndrome|long eyelashes-intellectual disability syndrome|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|OMCS UMLS:C1848745|GARD:0005266|MESH:C536554|Orphanet:3363|SCTID:719944006|DOID:0111271|OMIM:275400 owl:Class MONDO:0022971 biolink:NamedThing diabetes persistent mullerian ducts tmpak2llvmy_mondo_relaxed.owl GARD:0001840 https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts owl:Class MONDO:0013030 biolink:NamedThing dilated cardiomyopathy 1BB Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpak2llvmy_mondo_relaxed.owl CMD1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2|dilated cardiomyopathy type 1BB|cardiomyopathy, dilated, 1BB|DSG2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Bb DOID:0110458|UMLS:C2752072|MESH:C567877|ICD10:I42.0|OMIM:612877 owl:Class MONDO:0006863 biolink:NamedThing myxosarcoma An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. tmpak2llvmy_mondo_relaxed.owl myxosarcoma, malignant|myxosarcoma|myxosarcoma (morphologic abnormality) UMLS:C0027155|DOID:4136|MESH:D009236|EFO:1001056|ICDO:8840/3|NCIT:C3255 owl:Class MONDO:0013603 biolink:NamedThing myopia 20, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP20|myopia 20, autosomal dominant OMIM:614166|UMLS:C3279996 owl:Class MONDO:0008188 biolink:NamedThing papillomatosis, confluent and reticulated tmpak2llvmy_mondo_relaxed.owl carp|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|papillomatosis, confluent and reticulated|papillomatosis, familial cutaneous UMLS:C0263385|OMIM:167900|MESH:C566832 owl:Class MONDO:0700063 biolink:NamedThing complete A disease characteristic in which the cause of the disease is present in all the cells of the organism. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007025 biolink:NamedThing chancre The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. tmpak2llvmy_mondo_relaxed.owl EFO:1001247|MESH:D002601 owl:Class MONDO:0021836 biolink:NamedThing Aksu von Stockhausen syndrome A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl hereditary branchial arch defects|aksu von stockhausen syndrome MESH:C535611|GARD:0000579 https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome owl:Class MONDO:0032827 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 16 tmpak2llvmy_mondo_relaxed.owl EIG16|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 OMIM:618596 owl:Class MONDO:0032893 biolink:NamedThing pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures tmpak2llvmy_mondo_relaxed.owl PAMDDFS|PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES OMIM:618737 owl:Class HGNC:129 biolink:NamedThing ACTA1 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001592 biolink:NamedThing increased curvature A curvature which is relatively high. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044627 biolink:NamedThing acute macular neuroretinopathy tmpak2llvmy_mondo_relaxed.owl AMNR Orphanet:488239 owl:Class GO:0060841 biolink:NamedThing venous blood vessel development The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007411 biolink:NamedThing cutis laxa, autosomal dominant 1 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. tmpak2llvmy_mondo_relaxed.owl ELN autosomal dominant cutis laxa|cutis laxa, autosomal dominant 1|autosomal dominant cutis laxa caused by mutation in ELN|ADCL1|cutis laxa, autosomal dominant type 1|autosomal dominant cutis laxa 1 UMLS:C3276539|DOID:0070130|ICD10:Q82.8|OMIM:123700 owl:Class HGNC:17282 biolink:NamedThing RIMS1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:2001152 biolink:NamedThing negative regulation of renal water transport Any process that stops, prevents or reduces the frequency, rate or extent of renal water transport. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001250 biolink:NamedThing red pulp of spleen the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation tmpak2llvmy_mondo_relaxed.owl pulpa splenica|spleen red pulp|red pulp|splenic red pulp|pulpa rubra owl:Class HGNC:24200 biolink:NamedThing FAM111B tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13841 biolink:NamedThing ADGRG6 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7583 biolink:NamedThing MYL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020652 biolink:NamedThing immature teratoma of vulva tmpak2llvmy_mondo_relaxed.owl ONCOTREE:VIMT owl:Class HGNC:13780 biolink:NamedThing GFM1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002059 biolink:NamedThing Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. tmpak2llvmy_mondo_relaxed.owl Supratentorial atrophy|Degeneration of cerebrum UMLS:C4020860|SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|SNOMEDCT_US:418143002|UMLS:C0154671|UMLS:C0235946 Atrophy may be progressive over time. HP:0006890|HP:0002422 human_phenotype owl:Class UBERON:0008255 biolink:NamedThing right clavicle A clavicle that is in the right side of a entire appendicular skeleton. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:29433 biolink:NamedThing NEXMIF tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28887 biolink:NamedThing LEMD3 tmpak2llvmy_mondo_relaxed.owl owl:Class N5199c0bac2b14f9eac78082bb2026ee2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:7001 biolink:NamedThing MEIS2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007174 biolink:NamedThing medial border of scapula The medial border of the scapula (vertebral border, medial margin) is the longest of the three borders, and extends from the medial to the inferior angle. It is arched, intermediate in thickness between the superior and the axillary borders, and the portion of it above the spine forms an obtuse angle with the part below. This border presents an anterior and a posterior lip, and an intermediate narrow area. The anterior lip affords attachment to the Serratus anterior; the posterior lip, to the Supraspinatus above the spine, the Infraspinatus below; the area between the two lips, to the Levator scapulC& above the triangular surface at the commencement of the spine, to the Rhomboideus minor on the edge of that surface, and to the Rhomboideus major below it; this last is attached by means of a fibrous arch, connected above to the lower part of the triangular surface at the base of the spine, and below to the lower part of the border. tmpak2llvmy_mondo_relaxed.owl vertebral border of the scapula|margo medialis scapulae|vertebral border of scapula|medial part of scapula|vertebral border|medial border of the scapula|margo medialis (scapula)|medial margin of the scapula owl:Class MONDO:0012420 biolink:NamedThing autosomal recessive nonsyndromic deafness 49 An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive type 49|MARVELD2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 49|autosomal recessive deafness 49|deafness, autosomal recessive 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|DFNB49|autosomal recessive nonsyndromic deafness type 49 UMLS:C1857811|MESH:C565717|ICD10:H90.3|NCIT:C129024|DOID:0110506|OMIM:610153 owl:Class HGNC:25135 biolink:NamedThing LRSAM1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8856 biolink:NamedThing PEX14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014028 biolink:NamedThing distal arthrogryposis type 5D Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. tmpak2llvmy_mondo_relaxed.owl distal arthrogryposis type 5 without ophthalmoparesis|arthrogryposis, distal, type 5D|DA5D|distal arthrogryposis type 5 without ophthalmoplegia|distal arthrogryposis caused by mutation in ECEL1|ECEL1 distal arthrogryposis Orphanet:329457|DOID:0111594|GARD:0013059|ICD10:Q68.8|OMIM:615065|UMLS:C3554415 https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d owl:Class MONDO:0014084 biolink:NamedThing ataxia with oculomotor apraxia type 3 tmpak2llvmy_mondo_relaxed.owl ataxia-oculomotor apraxia type 3|AOA3|ataxia-oculomotor apraxia 3|ataxia-oculomotor apraxia-3 OMIM:615217|GARD:0013112|DOID:0060557|UMLS:C3554690 owl:Class HGNC:9009 biolink:NamedThing PKD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014940 biolink:NamedThing neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset tmpak2llvmy_mondo_relaxed.owl NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP OMIM:617145|UMLS:C4310693 owl:Class GO:0060235 biolink:NamedThing lens induction in camera-type eye Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013795 biolink:NamedThing fibrochondrogenesis 2 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. tmpak2llvmy_mondo_relaxed.owl FBCG2|fibrochondrogenesis 2|fibrochondrogenesis type 2|fibrochondrogenesis caused by mutation in COL11A2|COL11A2 fibrochondrogenesis UMLS:C3281128|OMIM:614524 owl:Class MONDO:0008680 biolink:NamedThing Wilms tumor 2 tmpak2llvmy_mondo_relaxed.owl familial Wilms tumor 2|Wilms tumor 2|WT2|Wilms tumor type 2|FWT2 OMIM:194071|GARD:0008559|MESH:C536853 https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 owl:Class HGNC:4713 biolink:NamedThing H19 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6637 biolink:NamedThing LMNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003881 biolink:NamedThing vulvar apocrine adenocarcinoma An apocrine adenocarcinoma that arises from the sweat glands in the vulva. tmpak2llvmy_mondo_relaxed.owl apocrine adenocarcinoma of mammalian vulva|vulvar apocrine adenocarcinoma|mammalian vulva apocrine adenocarcinoma DOID:6448|NCIT:C40308|UMLS:C2202741 owl:Class MONDO:0013927 biolink:NamedThing peroxisome biogenesis disorder 3A (Zellweger) tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder 3A (Zellweger)|PBD3A|peroxisome biogenesis disorder, complementation group 3 DOID:0080478|NCIT:C155752|OMIM:614859|UMLS:C3553929|MESH:C566633 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CL:1001582 biolink:NamedThing lateral ventricle neuron Neuron of lateral ventricle. tmpak2llvmy_mondo_relaxed.owl lateral ventricle neuronal cells|lateral ventricle neural cell|lateral ventricle neuronal cell CALOHA:TS-1261 owl:Class N82d68d61481b497f81ab8b447e69aefc biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006380 biolink:NamedThing pleural sarcomatoid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma. tmpak2llvmy_mondo_relaxed.owl pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma|sarcomatoid mesothelioma of pleura UMLS:C1709578|EFO:1000486|NCIT:C45663 owl:Class MONDO:0016823 biolink:NamedThing mycetoma Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. tmpak2llvmy_mondo_relaxed.owl Madura foot MESH:D008271|ICD10:B47.9|Orphanet:2583|ICD10:B47|ICD10:B47.1|GARD:0003862|SCTID:410039003|NCIT:C85505|UMLS:C0024449|MedDRA:10028427|ICD10:B47.0 owl:Class MONDO:0014579 biolink:NamedThing Senior-Loken syndrome 8 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpak2llvmy_mondo_relaxed.owl Senior-Loken syndrome 8|Senior-Loken syndrome type 8|SENIOR-Loken syndrome 8|Senior-Loken syndrome caused by mutation in WDR19|SLSN8|WDR19 Senior-Loken syndrome UMLS:C4225376|OMIM:616307 owl:Class MONDO:0014534 biolink:NamedThing lissencephaly 6 with microcephaly Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene. tmpak2llvmy_mondo_relaxed.owl LIS6|microlissencephaly caused by mutation in KATNB1|KATNB1 Microlissencephaly|KATNB1 microlissencephaly|lissencephaly 6 with microcephaly|Microlissencephaly caused by mutation in KATNB1 OMIM:616212 owl:Class HGNC:6217 biolink:NamedThing KATNB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005574 biolink:NamedThing tauopathy Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. tmpak2llvmy_mondo_relaxed.owl UMLS:C0949664|DOID:680|MESH:D024801|EFO:0005815 owl:Class MONDO:0006720 biolink:NamedThing cystic, mucinous, and serous neoplasm Neoplasms containing cyst-like formations or producing mucin or serum. tmpak2llvmy_mondo_relaxed.owl EFO:1000889|MESH:D018297 owl:Class HGNC:12811 biolink:NamedThing XK tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001541 biolink:NamedThing Ascites Accumulation of fluid in the peritoneal cavity. tmpak2llvmy_mondo_relaxed.owl Accumulation of fluid in the abdomen UMLS:C0003962|MSH:D001201|SNOMEDCT_US:389026000 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. human_phenotype owl:Class CHEBI:65001 biolink:NamedThing EC 3.1.1.3 (triacylglycerol lipase) inhibitor Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3). tmpak2llvmy_mondo_relaxed.owl triacylglycerol lipase (EC 3.1.1.3) inhibitors|heparin releasable hepatic lipase inhibitor|tributyrase inhibitors|triglyceride lipase inhibitors|Tweenase inhibitor|GEH inhibitors|triolein hydrolase inhibitor|pancreatic lipase inhibitors|liver lipase inhibitor|salt-resistant post-heparin lipase inhibitor|EC 3.1.1.3 inhibitors|tributyrinase inhibitors|butyrinase inhibitor|glycerol-ester hydrolase inhibitors|lipase inhibitors|Tweenase inhibitors|cacordase inhibitor|GEH inhibitor|steapsin inhibitors|triglyceridase inhibitor|pancreatic lipase inhibitor|triglyceridase inhibitors|tributyrinase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitor|Tween hydrolase inhibitor|triacylglycerol lipase inhibitors|triacylglycerol lipase inhibitor|tributyrin esterase inhibitors|salt-resistant post-heparin lipase inhibitors|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|post-heparin plasma protamine-resistant lipase inhibitor|PPL inhibitor|hepatic monoacylglycerol acyltransferase inhibitor|EC 3.1.1.3 inhibitor|PPL inhibitors|tributyrase inhibitor|steapsin inhibitor|cacordase inhibitors|hepatic lipase inhibitors|glycerol ester hydrolase inhibitor|hepatic lipase inhibitor|tween-hydrolyzing esterase inhibitors|lipase inhibitor|hepatic monoacylglycerol acyltransferase inhibitors|liver lipase inhibitors|pancreatic triacylglycerol lipase inhibitors|pancreatic triacylglycerol lipase inhibitor|lipazin inhibitor|Tween hydrolase inhibitors|triglyceride hydrolase inhibitors|triacetinase inhibitors|triolein hydrolase inhibitors|tween-hydrolysing esterase inhibitor|triglyceride lipase inhibitor|triacylglycerol ester hydrolase inhibitor|Tweenesterase inhibitors|glycerol ester hydrolase inhibitors|butyrinase inhibitors|triacetinase inhibitor|lipazin inhibitors|triglyceride hydrolase inhibitor|heparin releasable hepatic lipase inhibitors|capalase L inhibitor|capalase L inhibitors|post-heparin plasma protamine-resistant lipase inhibitors|Tweenesterase inhibitor|triacylglycerol ester hydrolase inhibitors|glycerol-ester hydrolase inhibitor|tributyrin esterase inhibitor owl:Class UBERON:0004246 biolink:NamedThing outflow tract smooth muscle A portion of smooth muscle tissue that is part of a outflow tract [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl non-striated muscle of outflow tract|outflow tract non-striated muscle|smooth muscle tissue of outflow tract|involuntary muscle of outflow tract|outflow tract smooth muscle tissue|outflow tract involuntary muscle|smooth muscle of outflow tract owl:Class HP:0001876 biolink:NamedThing Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). tmpak2llvmy_mondo_relaxed.owl Low blood cell count|uk_spelling SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198 human_phenotype owl:Class MONDO:0013929 biolink:NamedThing autosomal recessive nonsyndromic deafness 98 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 98|DFNB98|deafness, autosomal recessive type 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|autosomal recessive deafness 98|TSPEAR autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 98|deafness, autosomal recessive 98 OMIM:614861|ICD10:H90.3|UMLS:C3553932|DOID:0110540 owl:Class HGNC:1268 biolink:NamedThing TSPEAR tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002423 biolink:NamedThing DN2a thymocyte A DN2 thymocyte that is Kit-hi. tmpak2llvmy_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:05Z cell owl:Class HGNC:18348 biolink:NamedThing TICAM1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013668 biolink:NamedThing tetrasomy 18p Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. tmpak2llvmy_mondo_relaxed.owl chromosome 18p tetrasomy|Isochromosome 18P syndrome|tetrasomy 18p|tetrasomy chromosome 18p|tetrasomy type 18p|Isochromosome 18p|tetrasomy type 18P MESH:C538306|OMIM:614290|SCTID:698849002|ICD9:758.89|UMLS:C0795868|Orphanet:3307|GARD:0000035|ICD10:Q99.8 owl:Class MONDO:0012736 biolink:NamedThing long QT syndrome 9 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. tmpak2llvmy_mondo_relaxed.owl long QT syndrome 9, acquired, susceptibility to|long QT syndrome 2/9, digenic|CAV3 long QT syndrome|LQT9|long QT syndrome type 9|long QT syndrome caused by mutation in CAV3|long QT syndrome 9 ICD10:I45.8|GARD:0010435|OMIM:611818|DOID:0110650|MESH:C567515 https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 owl:Class HGNC:13556 biolink:NamedThing IFT122 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010081 biolink:NamedThing future common hepatic duct An extrahepatic bile duct that has the potential to develop into a common hepatic duct. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002812 biolink:NamedThing Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. tmpak2llvmy_mondo_relaxed.owl UMLS:C0239138|SNOMEDCT_US:74820003|MSH:D060905 The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. human_phenotype owl:Class MONDO:0007984 biolink:NamedThing metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly|metaphyseal dysplasia maxillary hypoplasia brachydactyly|MDMHB DOID:0111513|UMLS:CN201864|Orphanet:2504|OMIM:156510|GARD:0003568|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly owl:Class HGNC:2933 biolink:NamedThing DMPK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016237 biolink:NamedThing diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. tmpak2llvmy_mondo_relaxed.owl GARD:0001861|ICD10:Q82.8|Orphanet:2123|UMLS:C0474965|SCTID:254782003 https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis owl:Class UBERON:3000977 biolink:NamedThing body external integument structure Dermal, epidermal, glandular and pigment structures of the body integument. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14263 biolink:NamedThing RAB23 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007561 biolink:NamedThing multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, type 1|multiple epiphyseal dysplasia (disease) caused by mutation in COMP|Polyepiphyseal dysplasia type 1|multiple epiphyseal dysplasia COMP-related|multiple epiphyseal dysplasia, Comp-related|epiphyseal dysplasia, ribbing type|EDM1|MED1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, Fairbank type|epiphyseal dysplasia multiple 1|epiphyseal dysplasia, multiple, 1|COMP multiple epiphyseal dysplasia (disease) Orphanet:93308|ICD10:Q77.3|OMIM:132400|UMLS:C4275061|GARD:0002180|SCTID:715673002|UMLS:C1838280|DOID:0070303 https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 owl:Class MONDO:0010155 biolink:NamedThing Dorfman-Chanarin disease tmpak2llvmy_mondo_relaxed.owl ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral Lipid storage disease|neutral lipid storage disease with ichthyosis|disorder of cornification 12 (neutral lipid storage type)|Dorfman Chanarin syndrome|DCs|neutral Lipid storage disease with ichthyosis|triglyceride storage disease with impaired long-chain fatty acid oxidation|CDS|Chanarin-Dorfman syndrome|NLSDI|Chanarin-Dorfman disease|neutral lipid storage disease with ichthyotic|Dorfman-Chanarin syndrome ICD10:E75.5|OMIM:275630|Orphanet:98907|SCTID:19604005|GARD:0003979 owl:Class HGNC:21396 biolink:NamedThing ABHD5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25403 biolink:NamedThing SASS6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018712 biolink:NamedThing composite hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia. tmpak2llvmy_mondo_relaxed.owl composite hemangioendothelioma ICD10:D18.0|UMLS:C1304513|NCIT:C45475|Orphanet:458758|UMLS:CN242120|SCTID:403984006 owl:Class N1a189d15893d4fe0b72974daee22fa4f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023197 biolink:NamedThing frontonasal dysplasia Klippel feil syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002394 https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome owl:Class MONDO:0011913 biolink:NamedThing Alzheimer disease 3 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. tmpak2llvmy_mondo_relaxed.owl familial Alzheimer's disease, type 3|Alzheimer disease familial 3|familial Alzheimer disease, type 3|Alzheimer disease early onset type 3|Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|Alzheimer disease 3, early-onset|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease 3, early onset|Alzheimer disease, familial, 3|PSEN1 early-onset autosomal dominant Alzheimer disease|Alzheimer disease type 3|Alzheimer disease 3|Alzheimer's disease 3|Alzheimer's disease type 3|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|AD3|AD NCIT:C123412|DOID:0110042|MESH:C536598|GARD:0009468|OMIM:607822 owl:Class GO:0060097 biolink:NamedThing cytoskeletal rearrangement involved in phagocytosis, engulfment The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0005239 biolink:NamedThing basal plate metencephalon tmpak2llvmy_mondo_relaxed.owl metencephalon basal plate owl:Class HGNC:9177 biolink:NamedThing POLE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012981 biolink:NamedThing hereditary spherocytosis type 4 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene. tmpak2llvmy_mondo_relaxed.owl hereditary spherocytosis 4|hereditary spherocytosis caused by mutation in SLC4A1|spherocytosis, type 4|SPH4|HS4|SLC4A1 hereditary spherocytosis|spherocytosis, hereditary, 4 OMIM:612653|UMLS:C2675212|DOID:0110919|MESH:C567208 owl:Class PATO:0002468 biolink:NamedThing distensible A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. tmpak2llvmy_mondo_relaxed.owl owl:Class PO:0025530 biolink:NamedThing reproductive shoot system development stage A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082). tmpak2llvmy_mondo_relaxed.owl PO_GIT:517 Laurel_Cooper 2012-12-13T19:01:14Z plant_structure_development_stage owl:Class MONDO:0032617 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 11 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11|MC1DN11 OMIM:618234 owl:Class HGNC:18828 biolink:NamedThing NDUFAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11608 biolink:NamedThing TBXA2R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013943 biolink:NamedThing peroxisome biogenesis disorder 8B tmpak2llvmy_mondo_relaxed.owl peroxisome biogenesis disorder type 8B|peroxisome biogenesis disorder 8B|PBD8B UMLS:C3553960|OMIM:614877 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013642 biolink:NamedThing holoprosencephaly 11 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. tmpak2llvmy_mondo_relaxed.owl holoprosencephaly type 11|holoprosencephaly 11|HPE11|CDON holoprosencephaly|holoprosencephaly caused by mutation in CDON OMIM:614226|UMLS:C3280215|DOID:0110877 owl:Class HGNC:17104 biolink:NamedThing CDON tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:13478 biolink:NamedThing UBE3B tmpak2llvmy_mondo_relaxed.owl owl:Class CL:1001606 biolink:NamedThing foreskin keratinocyte Keratinocyte from foreskin. tmpak2llvmy_mondo_relaxed.owl CALOHA:TS-0385 owl:Class MONDO:0009271 biolink:NamedThing geroderma osteodysplastica Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. tmpak2llvmy_mondo_relaxed.owl GO|Gerodermia osteodysplastica|Walt Disney dwarfism|GERODERMA OSTEODYSPLASTICUM|geroderma osteodysplastica|Geroderma osteodysplasticum MESH:C537799|Orphanet:2078|DOID:0111266|UMLS:C0432255|SCTID:254116003|ICD10:Q82.8|GARD:0000413|OMIM:231070|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica owl:Class MONDO:0014042 biolink:NamedThing left ventricular noncompaction 7 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. tmpak2llvmy_mondo_relaxed.owl left ventricular noncompaction 7|left ventricular noncompaction caused by mutation in MIB1|LVNC7|left ventricular noncompaction type 7|MIB1 left ventricular noncompaction UMLS:C3554496|OMIM:615092 owl:Class MONDO:0019140 biolink:NamedThing acute ackee fruit intoxication Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. tmpak2llvmy_mondo_relaxed.owl ackee poisoning|Jamaican vomiting sickness|Jamaican vomiting syndrome|acute intoxication by Blighia sapida ICD9:988.2|GARD:0009299|MESH:C537562|ICD10:T62.2|Orphanet:73423|SCTID:49434001 owl:Class MONDO:0044631 biolink:NamedThing early-onset familial noncirrhotic portal hypertension tmpak2llvmy_mondo_relaxed.owl Orphanet:494348 owl:Class N0f4f04114edb479fbe11f51beebf0d20 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0002549 biolink:NamedThing fibroblast of choroid plexus A fibroblast that is part of the choroid plexus. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:01:39Z cell owl:Class MONDO:0024531 biolink:NamedThing myopathy, tubular aggregate, 1 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene. tmpak2llvmy_mondo_relaxed.owl STIM1 tubular aggregate myopathy|myopathy, tubular aggregate|tubular aggregate myopathy caused by mutation in STIM1|TAM1|myopathy, tubular aggregate, 1|tubular aggregate myopathy OMIM:160565|UMLS:C4011726 owl:Class HGNC:11386 biolink:NamedThing STIM1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:27230 biolink:NamedThing ESCO2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19190 biolink:NamedThing DOCK7 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022916 biolink:NamedThing cystic hygroma lethal cleft palate tmpak2llvmy_mondo_relaxed.owl Cowchock Wapner Kurtz syndrome GARD:0001653 https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate owl:Class MONDO:0009761 biolink:NamedThing cystic hygroma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. tmpak2llvmy_mondo_relaxed.owl macrocystic lymphatic malformation|cystic hygroma, fetal|hygroma|nuchal bleb, familial|cystic lymphangioma|cystic hygroma ICD10:D18.1|EFO:1000888|NCIT:C3724|GARD:0006234|MedDRA:10058949|DOID:3081|OMIM:257350|Orphanet:79486|ICDO:9173/0|MESH:D018191|SCTID:399882002 owl:Class MONDO:0010313 biolink:NamedThing intellectual disability, X-linked 63 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. tmpak2llvmy_mondo_relaxed.owl MRX63|mental retardation, X-linked 63|intellectual disability, X-linked type 63|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|intellectual disability, X-linked 63|mental retardation, X-linked 68|mental retardation, X-linked type 63|ACSL4-related intellectual disability|ACSL4 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 68 UMLS:C1845672|MESH:C564522|GARD:0005613|OMIM:300387 owl:Class UBERON:0011088 biolink:NamedThing ligament of knee joint A ligament that is part of a knee joint. tmpak2llvmy_mondo_relaxed.owl knee joint ligament owl:Class UBERON:0013632 biolink:NamedThing sesamoid cartilage A sesamoid element that is composed primarily of cartilage tissue. tmpak2llvmy_mondo_relaxed.owl cartilago sesamoidea|sesamoid cartilage of cricopharyngeal ligament owl:Class NCBITaxon:1659 biolink:NamedThing Actinomyces israelii tmpak2llvmy_mondo_relaxed.owl Cohnistreptothrix israeli|Oospora israeli|Brevistreptothrix israeli|Nocardia israeli|Actinobacterium israeli|Discomyces israeli|Corynebacterium israeli|Proactinomyces israeli|Streptothrix israeli PMID:30186281|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0012482 biolink:NamedThing submucosa of cloaca A submucosa that is part of a cloaca [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl cloaca submucosa|cloacal submucosa owl:Class NCBITaxon:2169971 biolink:NamedThing Visna-maedi virus tmpak2llvmy_mondo_relaxed.owl Maedi visna virus|Visna virus|Maedi visna virus MVV|Maedi-Visna virus|Visna lentivirus|Visna/maedi virus|Maedi/Visna virus GC_ID:1 NCBITaxon:11741|NCBITaxon:31677 ncbi_taxonomy owl:Class MONDO:0007221 biolink:NamedThing brachydactyly type C tmpak2llvmy_mondo_relaxed.owl brachydactyly, Haws type|brachydactyly, type C|brachydactyly type C|brachydactyly Haws type MESH:C537093|GARD:0000986|Orphanet:93384|DOID:0110970|UMLS:C1862103|OMIM:113100|ICD10:Q73.8 owl:Class MONDO:0010083 biolink:NamedThing succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. tmpak2llvmy_mondo_relaxed.owl Ssadh deficiency|SSADHD|gamma-hydroxybutyric aciduria|gamma-hydroxybutyricaciduria|succinic semialdehyde dehydrogenase deficiency|4-hydroxybutyric aciduria|GABA metabolic defect|SSADH deficiency|SSADH OMIM:271980|DOID:0060175|UMLS:C0268631|GARD:0007695|MESH:C535803|SCTID:49748000|ICD10:E72.8|Orphanet:22 https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency owl:Class HGNC:408 biolink:NamedThing ALDH5A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015681 biolink:NamedThing childhood disintegrative disorder Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. tmpak2llvmy_mondo_relaxed.owl heller syndrome|dementia infantilis NCIT:C97164|ICD10:F84.3|UMLS:CN072151|Orphanet:168782|UMLS:C0236791|GARD:0006040|MedDRA:10008522|SCTID:71961003 https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder owl:Class MONDO:0014691 biolink:NamedThing Noonan syndrome 9 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. tmpak2llvmy_mondo_relaxed.owl NS9|SOS2 Noonan syndrome|Noonan syndrome 9|Noonan syndrome caused by mutation in SOS2|Noonan syndrome type 9 DOID:0060587|UMLS:C4225282|OMIM:616559 owl:Class HGNC:4136 biolink:NamedThing GAMT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014030 biolink:NamedThing primary ciliary dyskinesia 20 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, primary, type 20|CILD20|primary ciliary dyskinesia caused by mutation in CCDC114|ciliary dyskinesia, primary, 20|primary ciliary dyskinesia type 20|primary ciliary dyskinesia 20 with or without situs inversus|CCDC114 primary ciliary dyskinesia|ciliary dyskinesia, primary, 20, with or without situs inversus OMIM:615067|DOID:0110625|UMLS:C3540844|ICD10:Q34.8 owl:Class HGNC:6118 biolink:NamedThing IRF3 tmpak2llvmy_mondo_relaxed.owl owl:Class Ne328f36ec9374cc984a0ce376890c65c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:23044 biolink:NamedThing NANOS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000494 biolink:NamedThing renal fibrosis A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. tmpak2llvmy_mondo_relaxed.owl EFO:1001517|SCTID:197660000|UMLS:C0151650|DOID:0050855 owl:Class CHEBI:62488 biolink:NamedThing signalling molecule A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. tmpak2llvmy_mondo_relaxed.owl signalling molecules|signal molecule|signaling molecule|signal molecules|signaling molecules owl:Class HGNC:3800 biolink:NamedThing FOXC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100370 biolink:NamedThing acute hepatitis B virus infection A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk. tmpak2llvmy_mondo_relaxed.owl acute hepatitis B NCIT:C157781 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010969 biolink:NamedThing cone-rod dystrophy 5 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene. tmpak2llvmy_mondo_relaxed.owl PITPNM3 cone-rod dystrophy|cone-rod dystrophy caused by mutation in PITPNM3|CORD5|cone-rod dystrophy 5|cone-rod dystrophy type 5 UMLS:C1832976|MESH:C563415|GARD:0010655|DOID:0111010|OMIM:600977 https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5 owl:Class N8e1d96295b4841f1a72aa4f248c9b7ce biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000968 biolink:NamedThing kidney lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. tmpak2llvmy_mondo_relaxed.owl lipoma of kidney|renal lipoma|lipoma of the kidney|kidney lipoma DOID:10194|NCIT:C5101|UMLS:C1335744 owl:Class NCBITaxon:41283 biolink:NamedThing Chrysosporium parvum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0007499 biolink:NamedThing ectoderm and mesoderm interaction A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. tmpak2llvmy_mondo_relaxed.owl ectoderm/mesoderm interaction owl:Class CHEBI:25154 biolink:NamedThing manganese molecular entity tmpak2llvmy_mondo_relaxed.owl manganese molecular entity|manganese compounds|manganese molecular entities owl:Class HGNC:2195 biolink:NamedThing COL18A1 tmpak2llvmy_mondo_relaxed.owl owl:Class Nbe86877bbac646ad9d72fa617be9a66d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N867585a30fbb4702a164b85f44e0b321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:52283 biolink:NamedThing Sarcoptes scabiei tmpak2llvmy_mondo_relaxed.owl Sarcoptes scabiei var. suis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei var. canis|Sarcoptes scabiei type canis|Sarcoptes scabiei type chimp|Sarcoptes scabiei var. hominis|Sarcoptes scabiei var. chimp|Sarcoptes scabiei type hominis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei var. wombati|Sarcoptes scabiei type suis|Sarcoptes scabiei type wombati|Sarcoptes scabiei var. wallaby GC_ID:1 NCBITaxon:197185|NCBITaxon:337908|NCBITaxon:268761|NCBITaxon:268762|NCBITaxon:268763|NCBITaxon:198574 ncbi_taxonomy owl:Class NCBITaxon:2169701 biolink:NamedThing Onyong-nyong virus tmpak2llvmy_mondo_relaxed.owl O'nyong-nyong virus|ONN GC_ID:1 NCBITaxon:11027 ncbi_taxonomy owl:Class MONDO:0012429 biolink:NamedThing Aicardi-Goutieres syndrome 2 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. tmpak2llvmy_mondo_relaxed.owl RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 2|AGS2|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|Aicardi-Goutieres syndrome type 2|RNASEH2B-related Aicardi-Goutieres syndrome OMIM:610181|GARD:0010894|UMLS:C3489724 owl:Class UBERON:0001554 biolink:NamedThing skin of hip A zone of skin that is part of a hip region. tmpak2llvmy_mondo_relaxed.owl hip skin|hip zone of skin|hip region zone of skin|regio coxae zone of skin|zone of skin of hip region|zone of skin of regio coxae|zone of skin of hip owl:Class MONDO:0033864 biolink:NamedThing infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:522077|OMIM:618218 owl:Class HGNC:11509 biolink:NamedThing SYT1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18179 biolink:NamedThing VPS33A tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0010074 biolink:NamedThing chromaffin system Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. tmpak2llvmy_mondo_relaxed.owl chromaffin tissue|argentaffin system owl:Class CHEBI:149689 biolink:NamedThing D-dopa zwitterion An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3. tmpak2llvmy_mondo_relaxed.owl (2R)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|D-dopa|(2R)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate owl:Class HGNC:8028 biolink:NamedThing NTHL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007012 biolink:NamedThing variant Creutzfeldt-Jakob disease A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. tmpak2llvmy_mondo_relaxed.owl vCJD NCIT:C128438|DOID:5435|MedDRA:10064199|ICD10:A81.01|UMLS:C0085209|ICD9:046.11|SCTID:304603007|GARD:0009550|Orphanet:576370|EFO:1001233|MONDO:0005409 owl:Class ECTO:5000000 biolink:NamedThing exposure to geographic feature A exposure event involving the interaction of an exposure receptor to geographic feature. tmpak2llvmy_mondo_relaxed.owl geographic feature exposure owl:Class MONDO:0007533 biolink:NamedThing elliptocytosis 2 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpak2llvmy_mondo_relaxed.owl elliptocytosis type 2|EL2|SPTA1 hereditary elliptocytosis|elliptocytosis, Rhesus-unlinked type|elliptocytosis 2|hereditary elliptocytosis caused by mutation in SPTA1 UMLS:C1851741|OMIM:130600|MESH:C565058 owl:Class HGNC:3097 biolink:NamedThing DYSF tmpak2llvmy_mondo_relaxed.owl owl:Class N9c995fbf05a049fea9130806549adbe8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:29501 biolink:NamedThing GPSM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012812 biolink:NamedThing developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 4|early infantile epileptic encephalopathy 4|epileptic encephalopathy, early infantile, 4|early infantile epileptic encephalopathy caused by mutation in STXBP1|DEE4|EIEE4|STXBP1-related encephalopathy|STXBP1 early infantile epileptic encephalopathy|developmental and epileptic encephalopathy, 4|STXBP1-related early-onset encephalopathy NCIT:C162472|MESH:C567404|SCTID:768666006|OMIM:612164|UMLS:C2677326|Orphanet:599373|DOID:0080436|GARD:0012900 https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 owl:Class N2c5ff21a3b5c4aeda5b5aa9c2d76345f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:CHR_9606-chr22q11 biolink:NamedThing chr22q11 (Human) tmpak2llvmy_mondo_relaxed.owl 25500000 15000000 hg38 owl:Class UBERON:0005661 biolink:NamedThing 3rd arch ectoderm An ectoderm that is part of a pharyngeal arch 3. tmpak2llvmy_mondo_relaxed.owl 3rd pharyngeal arch ectoderm owl:Class UBERON:0005421 biolink:NamedThing pectoral appendage apical ectodermal ridge An apical ectodermal ridge that is part of a pectoral appendage bud. tmpak2llvmy_mondo_relaxed.owl apical ectodermal ridge forelimb|wing apical ectodermal ridge|AER forelimb|upper limb bud apical ectodermal ridge|apical fold pectoral fin|wing AER|apical ectodermal ridge pectoral fin bud|aer pectoral fin|apical ectodermal ridge pectoral fin owl:Class MONDO:0013345 biolink:NamedThing d-2-hydroxyglutaric aciduria 2 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. tmpak2llvmy_mondo_relaxed.owl d-2-hydroxyglutaric aciduria 2|D-2-hydroxyglutaric aciduria type 2|IDH2 D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria caused by mutation in IDH2|D2HGA2|D-2-hydroxyglutaric aciduria 2 UMLS:C3150909|OMIM:613657|DOID:0111352 owl:Class Nc9ef3408260543a38653e7e1e62df7ac biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007369 biolink:NamedThing hereditary coproporphyria Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. tmpak2llvmy_mondo_relaxed.owl porphyria hepatica coproporphyria|Harderoporphyria|hereditary coproporphyria porphyria|Cpo deficiency|coproporphyrinogen oxidase deficiency|coproporphyria|porphyria hepatica II|coproporphyria, hereditary|HCP|coproporphyria hereditary|CPRO deficiency|Cpox deficiency|hereditary coproporphyria|Cpx deficiency MedDRA:10019866|DOID:13269|GARD:0006619|Orphanet:79273|NCIT:C84759|UMLS:C0162531|ICD10:E80.29|OMIM:121300|MESH:D046349|SCTID:7425008|ICD10:E80.2 https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria owl:Class HGNC:5013 biolink:NamedThing HMOX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018766 biolink:NamedThing chronic enteropathy associated with SLCO2A1 gene tmpak2llvmy_mondo_relaxed.owl CEAS Orphanet:468641 owl:Class HGNC:21653 biolink:NamedThing TOPORS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004079 biolink:NamedThing lung mucous gland adenoma A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. tmpak2llvmy_mondo_relaxed.owl adenoma of the bronchial mucus gland|lung polyadenoma|adenoma of bronchial mucous gland|adenoma of bronchial mucus gland|adenoma of the bronchial mucous gland|bronchial cystadenoma|lung mucous gland adenoma|bronchial mucus gland adenoma UMLS:C1332640|NCIT:C5664|DOID:7030 owl:Class MONDO:0016879 biolink:NamedThing partial deletion of chromosome 17 tmpak2llvmy_mondo_relaxed.owl partial deletion of chromosome type 17|partial monosomy of chromosome 17 ICD10:Q93.5|Orphanet:261831 owl:Class HGNC:30605 biolink:NamedThing SEPSECS tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014739 biolink:NamedThing autosomal recessive nonsyndromic deafness 97 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene. tmpak2llvmy_mondo_relaxed.owl DFNB97|autosomal recessive deafness 97|deafness, autosomal recessive 97|MET autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 97|deafness, autosomal recessive type 97|autosomal recessive nonsyndromic deafness caused by mutation in MET UMLS:C4084709|OMIM:616705|ICD10:H90.3|DOID:0110539 owl:Class MONDO:0005947 biolink:NamedThing rickettsial pneumonia Pneumonia caused by infection with bacteria of the family rickettsiaceae. tmpak2llvmy_mondo_relaxed.owl Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia MESH:D011022|ICD9:484.8|EFO:0007472|UMLS:C0032307|SCTID:233621003 owl:Class NCBITaxon:848 biolink:NamedThing Fusobacterium tmpak2llvmy_mondo_relaxed.owl Fusibacterium PMID:1715737|PMID:11931161|GC_ID:11 ncbi_taxonomy owl:Class GO:0044381 biolink:NamedThing glucose import in response to insulin stimulus The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. tmpak2llvmy_mondo_relaxed.owl cellular glucose import in response to insulin stimulus owl:Class MONDO:0018755 biolink:NamedThing scorpion envenomation Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. tmpak2llvmy_mondo_relaxed.owl poisoning due to scorpion venom|poisoning caused by scorpion venom|toxic effect of venom of scorpion UMLS:CN242103|ICD10:T63.2|SCTID:217670007|Orphanet:466677 owl:Class MONDO:0019893 biolink:NamedThing distal monosomy 19p13.3 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). tmpak2llvmy_mondo_relaxed.owl distal deletion 19p|telomeric deletion 19p Orphanet:96129|ICD10:Q93.5 owl:Class CHEBI:33352 biolink:NamedThing manganese group element atom tmpak2llvmy_mondo_relaxed.owl manganese group element|manganese group elements|group 7 elements owl:Class NCBITaxon:210 biolink:NamedThing Helicobacter pylori tmpak2llvmy_mondo_relaxed.owl Helicobacter nemestrinae|Campylobacter pylori|Campylobacter pyloridis|Campylobacter pylori subsp. pylori PMID:8494747|PMID:1995031|PMID:11931154|PMID:8186097|GC_ID:11 NCBITaxon:219 ncbi_taxonomy owl:Class MONDO:0008410 biolink:NamedThing Scheuermann disease A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. tmpak2llvmy_mondo_relaxed.owl juvenile osteochondritis of the spine|familial Scheuermann disease|Sherman's disease|spinal Osteochondrosis|Scheuermann's kyphosis|juvenile kyphosis|juvenile osteochondrosis of spine|Scheuermann juvenile kyphosis|Scheuermann's disease|familial spinal osteochondrosis|Scheuermann disease|Calve's disease|Scheuermann kyphosis|juvenile osteochondrosis of Scheurermann|familial Scheuermann juvenile kyphosis ICD10:M42.00|DOID:13300|UMLS:C0036310|ICD10:M42.0|NCIT:C34999|OMIM:181440|SCTID:53406005|Orphanet:3135|EFO:0008576|GARD:0007610|ICD9:732.0 owl:Class MONDO:0100082 biolink:NamedThing LEOPARD syndrome 1 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. tmpak2llvmy_mondo_relaxed.owl LEOPARD syndrome 1|LPRD1|multiple lentigines syndrome|lentiginosis, cardiomyopathic|LEOPARD syndrome type 1 DOID:0080548|OMIM:151100 owl:Class CL:0002062 biolink:NamedThing type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar type I cell|small alveolar cells|type I alveolar cells|ATI|membranous pneumocytes|squamous alveolar lining cell|lung type 1 cells|type 1 pneumocyte|type 1 alveolar epithelial cells|squamous alveolar cell|AT1|type I alveolar epithelial cells BTO:0000780|FMA:62500 tmeehan 2010-06-23T04:37:54Z cell owl:Class MONDO:0014445 biolink:NamedThing Bardet-Biedl syndrome 17 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in LZTFL1|Bardet-Biedl syndrome type 17|Bardet-Biedl syndrome 17|LZTFL1 Bardet-Biedl syndrome|BBS17 ICD10:Q87.89|OMIM:615994|UMLS:C3714980|DOID:0110139 owl:Class HGNC:6741 biolink:NamedThing LZTFL1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:260963 biolink:NamedThing Avulavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0004619 biolink:NamedThing phosphoglycerate mutase activity Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. tmpak2llvmy_mondo_relaxed.owl monophosphoglycerate mutase activity|phosphoglyceromutase activity|phosphoglycerate phosphomutase activity|PGAM activity|PGM|MPGM|D-phosphoglycerate 2,3-phosphomutase activity|diphosphoglycomutase|monophosphoglyceromutase activity|bisphosphoglyceromutase|GriP mutase|PGA mutase activity owl:Class Na8f1d4edf4724afda354d9fde46b5407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011921 biolink:NamedThing aural atresia, congenital tmpak2llvmy_mondo_relaxed.owl aural atresia, congenital|CAA|aural atresia, congenital, with hyposmia MESH:C564321|UMLS:C1842937|OMIM:607842 owl:Class HGNC:10669 biolink:NamedThing TSHZ1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11768 biolink:NamedThing TGFB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011430 biolink:NamedThing pulverulent cataract A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33. tmpak2llvmy_mondo_relaxed.owl Coppock-like cataract|pulverulent cataract|dusty cataract MESH:C565133|UMLS:CN207240|Orphanet:98984|ICD10:Q12.0|Orphanet:98986|UMLS:C1833118 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class HGNC:2410 biolink:NamedThing CRYGC tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0098647 biolink:NamedThing collagen beaded filament A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure. tmpak2llvmy_mondo_relaxed.owl beads on a string owl:Class MONDO:0003414 biolink:NamedThing skin pilomatrix carcinoma A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. tmpak2llvmy_mondo_relaxed.owl calcified epithelial carcinoma of Malherbe|malignant pilomatricoma|Trichomatrical carcinoma|calcifying epitheliocarcinoma|pilomatricoma, malignant|matrical carcinoma|pilomatrix skin carcinoma|pilomatrix carcinoma of skin|pilomatrix carcinoma|invasive pilomatrixoma|pilomatrix carcinoma of the skin|Pilomatrical carcinoma DOID:5376|ICDO:8110/3|NCIT:C4114|Orphanet:499182|SCTID:307610008|ICD10:C44.3|UMLS:C0585475|ICD10:C44.4 owl:Class UBERON:0007606 biolink:NamedThing ciliated stratified columnar epithelium tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008321 biolink:NamedThing pruritus, hereditary localized tmpak2llvmy_mondo_relaxed.owl pruritus, hereditary localized OMIM:177100|UMLS:C1867499|MESH:C566754 owl:Class GO:0044325 biolink:NamedThing transmembrane transporter binding Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpak2llvmy_mondo_relaxed.owl ion channel binding owl:Class HGNC:2649 biolink:NamedThing CYP51A1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1392 biolink:NamedThing Bacillus anthracis tmpak2llvmy_mondo_relaxed.owl Bacteridium anthracis|anthrax|Bacillus cereus var. anthracis|anthrax bacterium PMID:8123566|GC_ID:11 NCBITaxon:1494525|NCBITaxon:1494531|NCBITaxon:1494577 ncbi_taxonomy owl:Class HGNC:3954 biolink:NamedThing FRG1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16644 biolink:NamedThing IFITM5 tmpak2llvmy_mondo_relaxed.owl owl:Class Nd2ac3a71e1f04ed68510e3fbb27ae976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007397 biolink:NamedThing craniometaphyseal dysplasia, autosomal dominant tmpak2llvmy_mondo_relaxed.owl CMD|CMDD|craniometaphyseal dysplasia, autosomal dominant|CMDJ|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, Jackson type UMLS:C1852502|GARD:0001581|OMIM:123000|MESH:C565145 owl:Class HGNC:15492 biolink:NamedThing ANKH tmpak2llvmy_mondo_relaxed.owl owl:Class Ndff9b898f1444150a454e7dde0d900f9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ncd067dae38e64cc5b9c3f6f7016a236c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0007447 biolink:NamedThing Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. tmpak2llvmy_mondo_relaxed.owl Diffuse palmoplantar keratoderma|Hyperkeratosis, diffuse palmoplantar UMLS:C4021575|MSH:D015776 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. HP:0007435 human_phenotype owl:Class CL:0000807 biolink:NamedThing DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. tmpak2llvmy_mondo_relaxed.owl preT.DN3.Th|TN3 thymocyte|early cortical thymocyte|DN3 alpha-beta immature T lymphocyte|DN3 alpha-beta immature T-cell|DN3 immature T cell|double negative 3|DN3 alpha-beta immature T-lymphocyte|DN3 cell|TN3 cell cell owl:Class UBERON:0009742 biolink:NamedThing proamniotic cavity The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds tmpak2llvmy_mondo_relaxed.owl owl:Class N10a88d8884b74272a27ad2f382317af9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0001961 biolink:NamedThing positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. tmpak2llvmy_mondo_relaxed.owl stimulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signalling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway owl:Class MONDO:0012313 biolink:NamedThing short QT syndrome type 2 Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpak2llvmy_mondo_relaxed.owl SQT2|short QT syndrome caused by mutation in KCNQ1|short QT syndrome type 2|short QT syndrome 2|KCNQ1 short QT syndrome UMLS:C1865019|MESH:C566505|OMIM:609621 owl:Class HGNC:2974 biolink:NamedThing DNM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014056 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 9|susceptibility to cutaneous malignant melanoma 9|CMM9|melanoma, cutaneous malignant, susceptibility to, type 9 OMIM:615134 owl:Class HP:0003677 biolink:NamedThing Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. tmpak2llvmy_mondo_relaxed.owl Slow progression|Signs and symptoms worsen slowly with time|Slow disease progression|Slowly progressive disorder UMLS:C1854494 HP:0003675|HP:0003681 human_phenotype owl:Class MONDO:0025512 biolink:NamedThing type II hypersensitivity reaction disease A disease that has its basis in the disruption of type II hypersensitivity. tmpak2llvmy_mondo_relaxed.owl type II hypersensitivity disease|disorder of type II hypersensitivity EFO:0005809 Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22) owl:Class MONDO:0012430 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|WDR81 dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|CAMRQ2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 OMIM:610185|MESH:C567656|UMLS:C2750234 owl:Class MONDO:0014214 biolink:NamedThing short-rib thoracic dysplasia 8 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 8 with or without polydactyly|SRTD8|short rib-polydactyly syndrome type VI|SRPS6|short rib-polydactyly syndrome, type 6 ICD10:Q77.2|DOID:0110094|UMLS:C3809691|OMIM:615503 owl:Class HGNC:21862 biolink:NamedThing DYNC2I1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9082 biolink:NamedThing PLOD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002163 biolink:NamedThing thymus lipoma A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion. tmpak2llvmy_mondo_relaxed.owl thymus lipoma|Thymolipoma|Thymolipomatous hamartoma|lipoma of thymus DOID:1975|NCIT:C6452|UMLS:C1336744 owl:Class MONDO:0004304 biolink:NamedThing mixed cell type adenoma of parathyroid A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). tmpak2llvmy_mondo_relaxed.owl parathyroid gland mixed cell type adenoma|mixed cell type adenoma of the parathyroid|parathyroid mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|mixed cell type adenoma of parathyroid gland|mixed cell type adenoma of parathyroid DOID:7610|UMLS:C0279701|NCIT:C7994 owl:Class MONDO:0017204 biolink:NamedThing toxic maculopathy due to antimalarial drugs Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. tmpak2llvmy_mondo_relaxed.owl ICD10:H35.3|Orphanet:279894|SCTID:763621004|UMLS:CN202676|ICD10:T37.2 owl:Class CHEBI:22333 biolink:NamedThing alkylating agent Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:4416 biolink:NamedThing GNPAT tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0016530 biolink:NamedThing parietal cortex Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border. tmpak2llvmy_mondo_relaxed.owl cortex of parietal lobe|gray matter of parietal lobe|parietal lobe cortex|parietal neocortex owl:Class HGNC:1641 biolink:NamedThing CD209 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018325 biolink:NamedThing juvenile myasthenia gravis Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. tmpak2llvmy_mondo_relaxed.owl childhood myasthenia gravis|juvenile acquired myasthenia|juvenile autoimmune myasthenia gravis|pediatric myasthenia gravis|myasthenia gravis of childhood ICD10:G70.0|Orphanet:391497 owl:Class HGNC:17192 biolink:NamedThing TIRAP tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq26 biolink:NamedThing chrXq26 (Human) tmpak2llvmy_mondo_relaxed.owl 138900000 129500000 hg38 owl:Class MONDO:0014018 biolink:NamedThing hereditary spastic paraplegia 54 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia 54|SPG54|DDHD2 autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|autosomal recessive spastic paraplegia type 54|spastic paraplegia 54, autosomal recessive SCTID:723824005|OMIM:615033|UMLS:C4510083|ICD10:G11.4|DOID:0110806|Orphanet:320380|UMLS:C3539495 owl:Class ENVO:01001645 biolink:NamedThing gaseous part of an atmosphere That part of an atmosphere which is composed of gaseous material. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18451 biolink:NamedThing MCFD2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25726 biolink:NamedThing LAS1L tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q13.3 biolink:NamedThing chr20q13.3 (Human) tmpak2llvmy_mondo_relaxed.owl 64444167 56400000 hg38 owl:Class HP:0030186 biolink:NamedThing Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. tmpak2llvmy_mondo_relaxed.owl Essential tremor UMLS:C0234376|SNOMEDCT_US:609558009|UMLS:C0270736|MSH:D020329|SNOMEDCT_US:30721006|MSH:D014202 human_phenotype owl:Class MONDO:0017690 biolink:NamedThing disorder of galactose metabolism tmpak2llvmy_mondo_relaxed.owl SCTID:237963003|Orphanet:308467|ICD10:E74.2|UMLS:C0342745 owl:Class CL:1001052 biolink:NamedThing kidney cortex vein cell tmpak2llvmy_mondo_relaxed.owl KUPO:0001084 cell owl:Class PATO:0001735 biolink:NamedThing liquid configuration A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of liquids. tmpak2llvmy_mondo_relaxed.owl liquid owl:Class MONDO:0000913 biolink:NamedThing hereditary spherocytosis type 2 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene. tmpak2llvmy_mondo_relaxed.owl hereditary spherocytosis 2|HS2|hereditary spherocytosis type 2|hereditary spherocytosis caused by mutation in SPTB|spherocytosis, type 2|SPH2|SPTB hereditary spherocytosis|spherocytosis, hereditary, 2 DOID:0110917|UMLS:C2674219|OMIM:616649 owl:Class HGNC:9330 biolink:NamedThing PQBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class N4606e0d13f994a78b040dc341ec7d723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0005288 biolink:NamedThing tela choroidea of third ventricle Tela chorioidea that lines the third ventricle[ZFA]. The part of the choroid plexus in relation to the body of the ventricle forms the vascular fringed margin of a triangular process of pia mater, named the tela chorioidea of the third ventricle, and projects from under cover of the lateral edge of the fornix. Blood is supplied by branches from the superior cerebellar artery[WP]. tmpak2llvmy_mondo_relaxed.owl tela chorioidea third ventricle|tela choroidea ventriculi tertii|tela choroidea third ventricle|tela chorioidea of third ventricle|choroid membrane of third ventricle owl:Class NCBITaxon:11232 biolink:NamedThing Canine morbillivirus tmpak2llvmy_mondo_relaxed.owl CDV|canine distemper virus CDV|Canine distemper virus GC_ID:1 ncbi_taxonomy owl:Class Ncbcb54c072f544a7ab34e6f0074c765b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:8022 biolink:NamedThing NT5C2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0007313 biolink:NamedThing Cerebral degeneration tmpak2llvmy_mondo_relaxed.owl Neuroaxonal degeneration in the brain SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671 HP:0006874 human_phenotype owl:Class HGNC:8066 biolink:NamedThing NUP62 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014269 biolink:NamedThing combined oxidative phosphorylation deficiency 19 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. tmpak2llvmy_mondo_relaxed.owl LYRM4 combined oxidative phosphorylation deficiency|COXPD19|combined oxidative phosphorylation deficiency 19|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|combined oxidative phosphorylation deficiency type 19 DOID:0111476|UMLS:C3810055|OMIM:615595 owl:Class MONDO:0016957 biolink:NamedThing partial duplication of the long arm of chromosome 6 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl trisomy 6q|6q duplication|Duplication 6q|chromosome 6q duplication|partial trisomy of chromosome 6q|partial trisomy of the long arm of chromosome 6|partial duplication of the long arm of chromosome type 6|partial trisomy 6q|partial duplication of chromosome 6q|6q trisomy GARD:0005353|Orphanet:262878|MESH:C537812 owl:Class MONDO:0016052 biolink:NamedThing atypical autism Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. ' tmpak2llvmy_mondo_relaxed.owl MedDRA:10003747|ICD10:F84.1|SCTID:231536004|ICD9:299.80|Orphanet:199627 owl:Class MONDO:0005855 biolink:NamedThing molluscum contagiosum A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl DOID:8867|SCTID:40070004|ICD9:078.0|ICD10:B08.1|UMLS:C0026393|MESH:D008976|EFO:0007375 owl:Class HGNC:4800 biolink:NamedThing HSD17B10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019000 biolink:NamedThing perineural cyst Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. tmpak2llvmy_mondo_relaxed.owl Tarlov cyst|perineural cysts|Tarlov cysts|sacral neural cysts|sacral perineural cysts|sacral Tarlov cysts ICD10:G54.8|SCTID:81634008|EFO:1001858|GARD:0009258|Orphanet:65250|MESH:D052958 owl:Class MONDO:0009971 biolink:NamedThing newborn respiratory distress syndrome Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. tmpak2llvmy_mondo_relaxed.owl respiratory distress syndrome Of newborns (RDS)|RDS Of newborns|respiratory distress syndrome, infant|neonatal respiratory distress|respiratory distress syndrome Of newborns|pulmonary hypoperfusion syndrome of newborn|RDS|infant ARDS|HMD - hyaline membrane disease|respiratory distress syndrome in premature infants|infant acute respiratory distress syndrome|IRDS|pulmonary hyaline membrane disease|neonatal respiratory distress syndrome|newborns (RDS), respiratory distress syndrome Of|syndrome Of newborns (RDS), respiratory distress|RDS - infants|RDS, respiratory distress syndrome Of newborns|infant respiratory distress syndrome|infantile respiratory distress syndrome|hyaline membrane disease|hyaline Membrane disease|hyaline Membrane disease, formerly|RDS of prematurity|NRDS|respiratory distress syndrome|respiratory distress syndrome of newborn|respiratory distress syndrome in the newborn OMIM:267450|DOID:12716|Orphanet:70587|SCTID:46775006|ICD10:P22.0|UMLS:C0020192|UMLS:C1968593|NCIT:C27560|GARD:0000112|ICD9:769|EFO:1000644|UMLS:C0035220 owl:Class CHEBI:131604 biolink:NamedThing Mycoplasma genitalium metabolite Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. tmpak2llvmy_mondo_relaxed.owl Mycoplasma genitalium metabolites owl:Class Ndf9848680e814ef2832651e4d0133c58 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N8024c94596dc4d0c8f9c652da4eb8dd3 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:6345 biolink:NamedThing KLF1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:141668 biolink:NamedThing L-tyrosinal(1+) A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal. tmpak2llvmy_mondo_relaxed.owl (2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium|L-tyrosinal owl:Class MONDO:0013255 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 2 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. tmpak2llvmy_mondo_relaxed.owl arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome|ARCS2|arthrogryposis, renal dysfunction, and cholestasis 2|arthrogryposis, renal dysfunction, and cholestasis type 2 OMIM:613404|DOID:0111354|UMLS:C3150672 owl:Class OBO:CHR_9606-chr19q biolink:NamedThing chr19q (Human) tmpak2llvmy_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class HGNC:6342 biolink:NamedThing KIT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009294 biolink:NamedThing glycogen storage disease VI Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. tmpak2llvmy_mondo_relaxed.owl hepatic phosphorylase deficiency|hers' disease|glycogen storage disease caused by mutation in PYGL|glycogen storage disease 6|GSD type 6|hepatophosphorylase deficiency glycogenosis|glycogen storage disease due to liver glycogen phosphorylase deficiency|PYGL glycogen storage disease|glycogen storage disease VI|GSD6|glycogen storage disease type 6|hepatic glycogen phosphorylase deficiency|glycogenosis type VI|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease type VI|hers disease|GSD 6|glycogenosis due to liver glycogen phosphorylase deficiency|liver glycogen phosphorylase deficiency|GSD type VI|phosphorylase deficiency glycogen-storage disease of liver|glycogenosis type 6 Orphanet:369|MedDRA:10053240|UMLS:C0017925|GARD:0006529|MESH:D006013|ICD10:E74.09|OMIM:232700|DOID:2754|ICD10:E74.0|NCIT:C126875|SCTID:29291001 owl:Class ECTO:7000073 biolink:NamedThing exposure to mineral material A exposure event involving the interaction of an exposure receptor to mineral material. tmpak2llvmy_mondo_relaxed.owl mineral material exposure owl:Class N50f131db301746d1b22106216a3eae68 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0014706 biolink:NamedThing primitive renal collecting duct system tmpak2llvmy_mondo_relaxed.owl primitive collecting duct|metanephros primitive collecting ducts owl:Class UBERON:0005216 biolink:NamedThing optic eminence surface ectoderm An external ectoderm that is part of a optic eminence [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013437 biolink:NamedThing retinitis pigmentosa 43 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene. tmpak2llvmy_mondo_relaxed.owl PDE6A retinitis pigmentosa|retinitis pigmentosa 43|RP43|retinitis pigmentosa caused by mutation in PDE6A|retinitis pigmentosa type 43 UMLS:C3151139|OMIM:613810|ICD10:H35.5|DOID:0110379 owl:Class HGNC:8785 biolink:NamedThing PDE6A tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0000963 biolink:NamedThing opaque A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. tmpak2llvmy_mondo_relaxed.owl cloudy|non-transparent|clouding owl:Class NCBITaxon:51028 biolink:NamedThing Enterobius vermicularis tmpak2llvmy_mondo_relaxed.owl human pinworm GC_ID:1 ncbi_taxonomy owl:Class Nb222c86e0a694af4a4faed5cec0923be biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0002001 biolink:NamedThing CD34-positive, CD38-positive granulocyte monocyte progenitor A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. tmpak2llvmy_mondo_relaxed.owl Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. tmeehan 2010-01-13T03:19:22Z cell owl:Class CL:2000032 biolink:NamedThing peripheral nervous system neuron Any neuron that is part of a peripheral nervous system. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-06-25T02:28:17Z cell owl:Class Nf16b82643ad04a529ab7b5c2b0b0bae8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:15999 biolink:NamedThing SELENON tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032628 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 24 tmpak2llvmy_mondo_relaxed.owl MC1DN24|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 OMIM:618245 owl:Class HGNC:7704 biolink:NamedThing NDUFB9 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:23089 biolink:NamedThing SLC13A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100273 biolink:NamedThing glyceronephosphate O-acyltransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene. tmpak2llvmy_mondo_relaxed.owl GNPAT deficiency|glyceronephosphate O-acyltransferase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0014659 biolink:NamedThing infantile liver failure syndrome 2 Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene. tmpak2llvmy_mondo_relaxed.owl infantile liver failure caused by mutation in NBAS|infantile liver failure syndrome 2|NBAS infantile liver failure|ILFS2|infantile liver failure syndrome type 2 UMLS:CN232144|GARD:0013113|OMIM:616483 owl:Class HGNC:8977 biolink:NamedThing PIK3CD tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q33 biolink:NamedThing chr2q33 (Human) tmpak2llvmy_mondo_relaxed.owl 208200000 196600000 hg38 owl:Class Nb8db47cae4b2478aab1d1341e33e14ad biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014859 biolink:NamedThing developmental and epileptic encephalopathy, 37 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 37|FRRS1L early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, 37; EIEE37|EIEE37|epileptic encephalopathy, early infantile, 37|DEE37 OMIM:616981|UMLS:C4310770|DOID:0080435 owl:Class HGNC:1362 biolink:NamedThing FRRS1L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014733 biolink:NamedThing Charcot-Marie-Tooth disease type 4K SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1|Charcot-Marie-Tooth disease, type 4k|SURF1 Charcot-Marie-Tooth disease type 4|SURF1-related CMT4|Charcot-Marie-Tooth disease type 4K|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|CMT4K|SURF1-related Charcot-Marie-Tooth disease type 4|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease, type 4K DOID:0110187|OMIM:616684|Orphanet:391351|UMLS:C4225246|SCTID:765047006|ICD10:G60.0 owl:Class GO:0002020 biolink:NamedThing protease binding Binding to a protease or a peptidase. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009084 biolink:NamedThing conductive deafness-ptosis-skeletal anomalies syndrome Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. tmpak2llvmy_mondo_relaxed.owl deafness, conductive, with ptosis and skeletal anomalies|Jackson-Barr syndrome|deafness conductive ptosis skeletal anomalies|Jackson Barr syndrome OMIM:221320|Orphanet:3236|MESH:C535993|GARD:0000305|SCTID:763213001|UMLS:C1857340 owl:Class HP:0010910 biolink:NamedThing Hypervalinemia An increased concentration of valine in the blood. tmpak2llvmy_mondo_relaxed.owl High blood valine concentration MSH:C536524|SNOMEDCT_US:47719001|UMLS:C0268573 peter 2010-12-08T08:44:27Z human_phenotype owl:Class MONDO:0021420 biolink:NamedThing polyp of vocal cord A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. tmpak2llvmy_mondo_relaxed.owl laryngeal vocal fold polyp|polyp of the vocal cord|vocal cord polyp SCTID:9078005|UMLS:C0042929|NCIT:C3440 owl:Class MONDO:0002943 biolink:NamedThing external ear basal cell carcinoma A basal cell carcinoma that arises from the skin of the external ear. tmpak2llvmy_mondo_relaxed.owl basal cell carcinoma of external ear|basal cell external ear carcinoma|basal cell carcinoma of the external ear|external Ear basal cell carcinoma|external ear skin basal cell carcinoma|basal cell carcinoma of the external Ear|skin basal cell carcinoma of external ear|basal cell carcinoma of external Ear DOID:4287|UMLS:C1333491|NCIT:C6082 owl:Class UBERON:0003725 biolink:NamedThing cervical nerve plexus An arrangement of nerve fibers, running from the spine that travels to the head and neck where it innervates skin and muscle. tmpak2llvmy_mondo_relaxed.owl plexus cervicalis|cervical plexus|cervical nerve plexus owl:Class CHEBI:33295 biolink:NamedThing diagnostic agent A substance administered to aid diagnosis of a disease. tmpak2llvmy_mondo_relaxed.owl diagnostic aid owl:Class HGNC:11142 biolink:NamedThing SIK1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060054 biolink:NamedThing positive regulation of epithelial cell proliferation involved in wound healing Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013487 biolink:NamedThing recurrent Neisseria infections due to factor D deficiency tmpak2llvmy_mondo_relaxed.owl complement factor D deficiency|factor D deficiency|recurrent Neisseria infections due to factor D deficiency|CFDD OMIM:613912|UMLS:C0398764|SCTID:234607008|Orphanet:169467|ICD9:279.8|ICD10:D84.1|MESH:C565027 owl:Class CHEBI:597326 biolink:NamedThing pyridoxal 5'-phosphate(2-) The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate. tmpak2llvmy_mondo_relaxed.owl pyridoxal 5'-phosphate dianion|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|pyridoxal 5'-phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-) owl:Class MONDO:0022656 biolink:NamedThing cardiomyopathy spherocytosis tmpak2llvmy_mondo_relaxed.owl GARD:0001110 https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis owl:Class NCBITaxon:34609 biolink:NamedThing Amblyomma maculatum tmpak2llvmy_mondo_relaxed.owl Gulf Coast tick GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017256 biolink:NamedThing idiopathic anterior uveitis tmpak2llvmy_mondo_relaxed.owl ICD10:H20.9|ICD10:H20.2|ICD10:H20.0|ICD10:H20.1|Orphanet:280914|UMLS:C0339315|ICD10:H20.8|SCTID:231947004 owl:Class N254fcaa8ceef4c969d7fffc603ff5a53 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0100094 biolink:NamedThing cannabinoid hyperemesis syndrome A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. tmpak2llvmy_mondo_relaxed.owl CHS http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0016515 biolink:NamedThing muscular layer of prostatic urethra A muscular coat that is part of a prostatic urethra. tmpak2llvmy_mondo_relaxed.owl muscle layer of prostatic urethra|muscular coat of prostatic urethra|muscle layer of prostatic part of urethra owl:Class MONDO:0010465 biolink:NamedThing Kabuki syndrome 2 tmpak2llvmy_mondo_relaxed.owl Kabuki syndrome 2|KABUK2|KABUKI syndrome 2|Kabuki syndrome type 2 OMIM:300867|UMLS:C3275495 owl:Class UBERON:0035847 biolink:NamedThing fibrocartilage enthesis tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0001995 biolink:NamedThing fibrocartilage Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns. tmpak2llvmy_mondo_relaxed.owl stratified cartilage tissue|fibrocartilage tissue owl:Class MONDO:0009300 biolink:NamedThing Perrault syndrome 1 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. tmpak2llvmy_mondo_relaxed.owl Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|HSD17B4 Perrault syndrome|ovarian dysgenesis with sensorineural deafness|PRLTS1|Perrault syndrome caused by mutation in HSD17B4|Perrault syndrome 1 OMIM:233400 owl:Class N357f014ff2c14407809e222327921a62 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:16892 biolink:NamedThing CD96 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:11084 biolink:NamedThing Tick-borne encephalitis virus tmpak2llvmy_mondo_relaxed.owl FSME virus|TBEV|tick-borne encephalitis virus TBEV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013210 biolink:NamedThing autosomal recessive nonsyndromic deafness 25 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene. tmpak2llvmy_mondo_relaxed.owl DFNB25|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|autosomal recessive nonsyndromic deafness 25|deafness, autosomal recessive 25|autosomal recessive deafness 25|deafness, autosomal recessive type 25|GRXCR1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 25 OMIM:613285|UMLS:C1414017|ICD10:H90.3|DOID:0110483 owl:Class MONDO:0032612 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 7 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7|MC1DN7 OMIM:618229 owl:Class HGNC:7717 biolink:NamedThing NDUFV2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:28880 biolink:NamedThing MAGT1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0070075 biolink:NamedThing tear secretion The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009049 biolink:NamedThing Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. tmpak2llvmy_mondo_relaxed.owl adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease|AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|primary bilateral macronodular adrenal hyperplasia|primary macronodular adrenal hyperplasia|ACTH-independent Cushing syndrome|MMAD|corticotropin-independent macronodular adrenal hyperplasia ICD10:E24.8|SCTID:720459002|UMLS:CN200644|GARD:0010824|UMLS:C2062388|MESH:C565662|Orphanet:189427 https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia owl:Class N0641926a4b8d4a0189d9a636e896ff54 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016050 biolink:NamedThing thiamine-responsive encephalopathy Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. tmpak2llvmy_mondo_relaxed.owl Orphanet:199348|SCTID:723557004 owl:Class GO:0042303 biolink:NamedThing molting cycle The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc. tmpak2llvmy_mondo_relaxed.owl owl:Class N24687c5f753c48b0b9ac66527f5fa323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004420 biolink:NamedThing breast malignant eccrine spiradenoma A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. tmpak2llvmy_mondo_relaxed.owl breast malignant spiradenoma|malignant spiradenoma of breast|malignant breast eccrine spiradenoma|malignant eccrine spiradenoma of breast|malignant eccrine spiradenoma of the breast DOID:7983|NCIT:C5180|UMLS:C1334565 owl:Class MONDO:0013601 biolink:NamedThing gluthathione peroxidase deficiency tmpak2llvmy_mondo_relaxed.owl glutathione peroxidase deficiency|gluthathione peroxidase deficiency|GPXD SCTID:234590006|UMLS:C0398747|OMIM:614164 owl:Class Nd9a16e34b9e142829f18002d1ec3a615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N36b53acad82e46c08ce9017bd6f9b82f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0002537 biolink:NamedThing hermaphrodite gonad A gonad with both testicular and ovarian aspects[WP]. tmpak2llvmy_mondo_relaxed.owl ovotestis|hermaphrodite gland|hermaphrodite genitalia|glandula hermaphroditica owl:Class MONDO:0010822 biolink:NamedThing Warburg micro syndrome 1 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. tmpak2llvmy_mondo_relaxed.owl Warburg micro syndrome 1|RAB3GAP1 Warburg micro syndrome|Warburg micro syndrome caused by mutation in RAB3GAP1|Warburg micro syndrome type 1|WARBM1|micro syndrome|micro syndrome 1|WARBURG micro syndrome 1 OMIM:600118|DOID:0110716|ICD10:Q87.0 owl:Class MONDO:0032632 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 28 tmpak2llvmy_mondo_relaxed.owl MC1DN28|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 OMIM:618249 owl:Class MONDO:0004328 biolink:NamedThing maxillary sinus adenocarcinoma An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of maxillary sinus|adenocarcinoma of the maxillary sinus|maxillary sinus adenocarcinoma NCIT:C6240|SCTID:707339009|UMLS:C1334642|DOID:7684 owl:Class MONDO:0012771 biolink:NamedThing asthma-related traits, susceptibility to, 7 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene. tmpak2llvmy_mondo_relaxed.owl asthma-related traits, susceptibility to, type 7|asthma-RELATED traits, susceptibility to, 7|ASRT7|CHI3L1 inherited susceptibility to asthma|asthma-related traits, susceptibility to, 7|inherited susceptibility to asthma caused by mutation in CHI3L1 OMIM:611960 owl:Class HGNC:17869 biolink:NamedThing AFF4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004549 biolink:NamedThing cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. tmpak2llvmy_mondo_relaxed.owl cork-handlers' disease or lung|cork-handlers' lung|cork worker's lung|Suberosis UMLS:C0152108|DOID:840|ICD9:495.3|SCTID:13394002|ICD10:J67.3 owl:Class MONDO:0033622 biolink:NamedThing spermatogenic failure 44 tmpak2llvmy_mondo_relaxed.owl SPGF44 OMIM:619044 owl:Class HGNC:25566 biolink:NamedThing SETD5 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:17935 biolink:NamedThing CD207 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:42408 biolink:NamedThing Neotoma albigula tmpak2llvmy_mondo_relaxed.owl white-throated woodrat GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014600 biolink:NamedThing dyskeratosis congenita, autosomal recessive 6 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. tmpak2llvmy_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive type 6|dyskeratosis congenita caused by mutation in PARN|autosomal recessive dyskeratosis congenita 6|DKCB6|PARN dyskeratosis congenita|dyskeratosis congenita, autosomal recessive 6 UMLS:C4225356|OMIM:616353|DOID:0070024 owl:Class MONDO:0014481 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 2 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. tmpak2llvmy_mondo_relaxed.owl EGFR neonatal inflammatory skin and bowel disease|inflammatory skin and bowel disease, neonatal, 2|NISBD2|inflammatory skin and bowel disease, neonatal, type 2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR OMIM:616069|UMLS:C4015130 owl:Class MONDO:0014968 biolink:NamedThing encephalopathy, progressive, with amyotrophy and optic atrophy tmpak2llvmy_mondo_relaxed.owl encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy OMIM:617207|UMLS:C4310667 owl:Class HGNC:9060 biolink:NamedThing PLCD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001397 biolink:NamedThing Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. tmpak2llvmy_mondo_relaxed.owl Fatty infiltration of liver|Steatosis|Fatty liver|Liver steatosis SNOMEDCT_US:442191002|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:197321007 Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. HP:0002252|HP:0200121 human_phenotype owl:Class UBERON:0014640 biolink:NamedThing occipital gyrus A gyrus that is part of a occipital lobe. tmpak2llvmy_mondo_relaxed.owl gyrus occipitalis owl:Class MONDO:0013064 biolink:NamedThing multiple synostoses syndrome 3 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. tmpak2llvmy_mondo_relaxed.owl multiple synostoses syndrome type 3|multiple synostoses syndrome 3|SYNS3|FGF9 multiple synostoses syndrome|multiple synostoses syndrome caused by mutation in FGF9 OMIM:612961|UMLS:C2751826|MESH:C567839 owl:Class HGNC:3687 biolink:NamedThing FGF9 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:12015 biolink:NamedThing TPO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012872 biolink:NamedThing thrombophilia, familial, due to decreased release of tissue plasminogen activator tmpak2llvmy_mondo_relaxed.owl THPH9|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator|thrombophilia, familial, due to decreased release of tissue plasminogen activator OMIM:612348|MESH:C567341 owl:Class HGNC:23406 biolink:NamedThing DOLK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041447 biolink:NamedThing metastatic malignant neoplasm in the colon The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. tmpak2llvmy_mondo_relaxed.owl metastatic malignant neoplasm to the colon|metastatic tumor to the colon|metastatic neoplasm to the colon|metastatic malignant neoplasm in the colon UMLS:C0346974|NCIT:C8411 owl:Class N0c4c2b15a2714c0bb5587ef9f9f1ee32 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013564 biolink:NamedThing anhaptoglobinemia tmpak2llvmy_mondo_relaxed.owl anhaptoglobinemia|Ahaptoglobinemia|hypohaptoglobinemia|AHP|ANHAPTOGLOBINEMIA OMIM:614081|UMLS:C3279786 owl:Class MONDO:0004217 biolink:NamedThing childhood brain germinoma A germinoma arising from the brain during childhood. tmpak2llvmy_mondo_relaxed.owl germinoma of childhood brain|germinoma of the pediatric brain|pediatric brain germ cell cancer|pediatric brain germinoma|germinoma of the childhood brain|brain germinoma of childhood|germinoma of pediatric brain DOID:7429|UMLS:C1332948|NCIT:C6207 owl:Class Nc7bc6f5c29084c9298efd137dcc24835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl PO:0000018 biolink:NamedThing ovule primordium A floral structure primordium (PO:0025477) that is committed to the development of an ovule (PO:0020003). tmpak2llvmy_mondo_relaxed.owl 胚珠原基（可視的） (Japanese, exact)|portion of ovule primordium tissue (exact)|primordio de óvulo (Spanish, exact) PO_GIT:465 The transition from ovule primordium to ovule occurs when an integument (PO:0020021) begins to develop from the protoderm (PO:0006210). plant_anatomy owl:Class HGNC:24858 biolink:NamedThing MFF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011520 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl SLEB2|susceptibility to systemic lupus erythematosus 2|systemic lupus erythematosus, susceptibility to, type 2|systemic lupus erythematosus, susceptibility to, 2 OMIM:605218|UMLS:C1854577 owl:Class Na6fc92decd7e4fc180866d41f433aa29 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019985 biolink:NamedThing drug-related renal tubular dysgenesis tmpak2llvmy_mondo_relaxed.owl ICD10:Q63.8|Orphanet:97368 owl:Class HGNC:2312 biolink:NamedThing CPN1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0002076 biolink:NamedThing cuticle of hair smooth and glossy outer protective cell layer of hair shaft tmpak2llvmy_mondo_relaxed.owl hair cuticle owl:Class NCBITaxon:5478 biolink:NamedThing [Candida] glabrata tmpak2llvmy_mondo_relaxed.owl Candida glabrata|Torulopsis glabrata|Cryptococcus glabratus GC_ID:1|PMID:14654427 ncbi_taxonomy owl:Class MONDO:0006199 biolink:NamedThing endometrial undifferentiated carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. tmpak2llvmy_mondo_relaxed.owl endometrial undifferentiated carcinoma|undifferentiated endometrial carcinoma NCIT:C40156|UMLS:CN201056|EFO:1000242 owl:Class GO:0043401 biolink:NamedThing steroid hormone mediated signaling pathway A series of molecular signals mediated by a steroid hormone binding to a receptor. tmpak2llvmy_mondo_relaxed.owl steroid hormone mediated signalling owl:Class MONDO:0004509 biolink:NamedThing intrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts. tmpak2llvmy_mondo_relaxed.owl intrahepatic biliary papillomatosis|intrahepatic bile duct papillary neoplasm|intrahepatic bile duct papillomatosis DOID:8230|NCIT:C7125|UMLS:C1334258 owl:Class MONDO:0013553 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 2 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene. tmpak2llvmy_mondo_relaxed.owl ICF2|immunodeficiency-centromeric instability-facial anomalies syndrome 2|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|ICF syndrome 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome ICD10:D84.8|UMLS:C3279748|DOID:0090009|OMIM:614069 owl:Class Nd57699a2498e453b8c2f91faa42c4de6 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N1702f12821ba4f268c99a59e08b27284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:4839 biolink:NamedThing HCFC1 tmpak2llvmy_mondo_relaxed.owl owl:Class N047c213b7c274f07b0c369e7a20610c2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N828f8294475a4deea5cba04bae9f1923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:10301 biolink:NamedThing RPL11 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0022361 biolink:NamedThing lung field A specific region of the foregut into the area in which the lung will develop. tmpak2llvmy_mondo_relaxed.owl lung field owl:Class NCBITaxon:181088 biolink:NamedThing Haemaphysalis flava tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007778 biolink:NamedThing umbilical artery endothelium An endothelium that is part of a umbilical artery. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0097006 biolink:NamedThing regulation of plasma lipoprotein particle levels Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. tmpak2llvmy_mondo_relaxed.owl plasma lipoprotein particle homeostasis owl:Class HGNC:3771 biolink:NamedThing FMO3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11429 biolink:NamedThing STX11 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11326 biolink:NamedThing SSR4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000713 biolink:NamedThing Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. tmpak2llvmy_mondo_relaxed.owl UMLS:C0085631|SNOMEDCT_US:24199005 human_phenotype owl:Class MONDO:0007126 biolink:NamedThing spondyloarthropathy, susceptibility to, 1 Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene. tmpak2llvmy_mondo_relaxed.owl spondyloarthropathy, susceptibility to caused by mutation in HLA-B|spondyloarthropathy, susceptibility to, 1|HLA-B spondyloarthropathy, susceptibility to|ankylosing spondylitis, susceptibility to|Marie-Strumpell spondylitis|SPDA1|susceptibility to spondyloarthropathy 1|spondyloarthropathy, susceptibility to, type 1|Bechterew syndrome DOID:0080603|OMIM:106300 owl:Class Nd633b0a44c5a4ceda0f622ba6dacdcfe biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014437 biolink:NamedThing Bardet-Biedl syndrome 9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. tmpak2llvmy_mondo_relaxed.owl Bardet-Biedl syndrome 9|BBS9 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 9|BBS9|Bardet-Biedl syndrome caused by mutation in BBS9 DOID:0110131|MESH:C565918|EFO:0009027|ICD10:Q87.89|OMIM:615986|GARD:0010208|UMLS:C1859567 https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 owl:Class MONDO:0014639 biolink:NamedThing familial temporal lobe epilepsy 7 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. tmpak2llvmy_mondo_relaxed.owl epilepsy, familial temporal lobe, 7|ETL7|epilepsy, familial temporal lobe, type 7|familial temporal lobe epilepsy type 7 OMIM:616436|DOID:0060751|UMLS:C4225327 owl:Class HGNC:42 biolink:NamedThing ABCB11 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:55323 biolink:NamedThing antidiarrhoeal drug Any drug found useful in the symptomatic treatment of diarrhoea. tmpak2llvmy_mondo_relaxed.owl antidiarrhoeal|antidiarrheal drug|antidiarrheal drugs|antiperistaltic drugs|antiperistaltic drug|antidiarrhoeal agent|antidiarrhoeal agents|antidiarrheal agents|antidiarrheal|antidiarrheals|antiperistaltic agent|antidiarrhoeals|antidiarrhoeal drugs|antiperistaltic agents|antiperistaltic|antidiarrheal agent|antiperistaltics owl:Class HGNC:6853 biolink:NamedThing MAP3K14 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:414 biolink:NamedThing ALDOA tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0090275 biolink:NamedThing negative regulation of somatostatin secretion Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:609 biolink:NamedThing APOC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0018117 biolink:NamedThing left renal cortex interstitium A renal cortex interstitium that is part of a left kidney. tmpak2llvmy_mondo_relaxed.owl cortical interstitial tissue of left kidney owl:Class HP:0011461 biolink:NamedThing Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). tmpak2llvmy_mondo_relaxed.owl Foetal onset UMLS:C4023347 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:58:21Z human_phenotype owl:Class GO:0008527 biolink:NamedThing taste receptor activity Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste. tmpak2llvmy_mondo_relaxed.owl gustatory receptor owl:Class HGNC:7703 biolink:NamedThing NDUFB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001942 biolink:NamedThing generalized anxiety disorder An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. tmpak2llvmy_mondo_relaxed.owl GAD ICD10:F41.1|ICD9:300.02|NCIT:C92622|EFO:1001892|DOID:14320|SCTID:21897009 owl:Class MONDO:0012464 biolink:NamedThing cone-rod dystrophy 10 Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy caused by mutation in SEMA4A|CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy 10|cone-rod dystrophy type 10 OMIM:610283|UMLS:C1846529|MESH:C564597|DOID:0111017 owl:Class MONDO:0001613 biolink:NamedThing vertebrobasilar insufficiency Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. tmpak2llvmy_mondo_relaxed.owl vertebrobasilar artery syndrome|vertebrobasilar insufficiency|vertebro-basilar insufficiency|vertebrobasilar arterial insufficiency ICD10:G45.0|ICD9:435.3|DOID:13003|MESH:D014715|SCTID:195199008|UMLS:C0042568|EFO:1001449 owl:Class HGNC:1371 biolink:NamedThing CA12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014759 biolink:NamedThing intellectual disability, autosomal recessive 51 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. tmpak2llvmy_mondo_relaxed.owl MRT51|intellectual disability, autosomal recessive 51|mental retardation, autosomal recessive 51|HNMT autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|mental retardation, autosomal recessive type 51|intellectual disability, autosomal recessive type 51 OMIM:616739|UMLS:C4225220 owl:Class UBERON:0010152 biolink:NamedThing skin mucus A mucous secretion that is produced by glands in the epidermis. tmpak2llvmy_mondo_relaxed.owl epidermal mucus|skin mucous owl:Class GO:0033059 biolink:NamedThing cellular pigmentation The deposition or aggregation of coloring matter in a cell. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011660 biolink:NamedThing autosomal dominant nonsyndromic deafness 22 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpak2llvmy_mondo_relaxed.owl DFNA 22|MYO6 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal dominant 22|deafness, autosomal dominant nonsyndromic sensorineural 22|autosomal dominant nonsyndromic deafness type 22|DFNA22|autosomal dominant deafness 22|deafness, autosomal dominant type 22 DOID:0110552|MESH:C538197|OMIM:606346|ICD10:H90.3|GARD:0009167 owl:Class HGNC:13666 biolink:NamedThing AAAS tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11896 biolink:NamedThing TNFAIP3 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0013240 biolink:NamedThing future glans clitoris A future glans that is part of a female genital tubercle. tmpak2llvmy_mondo_relaxed.owl glans of female genital tubercle owl:Class ENVO:02000108 biolink:NamedThing cotton dust tmpak2llvmy_mondo_relaxed.owl owl:Class N1b922261313043f393d5082c9598cb85 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:6211 biolink:NamedThing Echinococcus multilocularis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:20889 biolink:NamedThing LRIG2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013862 biolink:NamedThing immunodeficiency, common variable, 7 tmpak2llvmy_mondo_relaxed.owl immunodeficiency, common variable, 7|immunodeficiency, common variable, type 7|CVID7 UMLS:C3542922|OMIM:614699 owl:Class HGNC:3431 biolink:NamedThing ERBB3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:3546 biolink:NamedThing F8 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0030222 biolink:NamedThing Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:25762009|MSH:D000377|UMLS:C0234502 human_phenotype owl:Class HGNC:4180 biolink:NamedThing GBE1 tmpak2llvmy_mondo_relaxed.owl owl:Class Nbc03cdfe300d4c5e98524780680965a5 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl CL:0007001 biolink:NamedThing skeletogenic cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). tmpak2llvmy_mondo_relaxed.owl scleroblast Needs logical definition. Should be capable_of skeletal system morphogenesis? or skeletal tissue development? needs to be added to GO. NOTES:a cell type of the early embryo (see also: mesenchymal cells) that will give rise to mineralized connective tissue. Scleroblasts can differentiate into osteoblasts (bone-forming cells), chondroblasts (cartilage-forming cells), odontoblasts (dentin-forming cells), ameloblasts (enamel-forming cells). The mesenchymal cells developing into osteoblasts and chondroblasts are derived from the mesoderm. Those developing into odontoblasts are neural crest cells. Those developing into ameloblasts are derived from the ectoderm. (http://www.copewithcytokines.de/cope.cgi?key=scleroblasts) haendel 2012-06-15T02:51:27Z cell owl:Class CL:0000649 biolink:NamedThing prickle cell A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin. tmpak2llvmy_mondo_relaxed.owl prickle cell of epidermis FMA:69059 CL:0002186 cell owl:Class MONDO:0008993 biolink:NamedThing cleft palate-stapes fixation-oligodontia syndrome Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. tmpak2llvmy_mondo_relaxed.owl cleft palate, deafness, and oligodontia|cleft palate stapes fixation oligodontia ICD10:Q87.8|Orphanet:2010|UMLS:C1859081|MESH:C565844|GARD:0001393|OMIM:216300 https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia owl:Class HGNC:11948 biolink:NamedThing TNNT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018259 biolink:NamedThing didymosis aplasticosebacea tmpak2llvmy_mondo_relaxed.owl aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046|UMLS:CN204834|ICD10:Q84.8 owl:Class MONDO:0012395 biolink:NamedThing cataract 18 Any cataract in which the cause of the disease is a mutation in the FYCO1 gene. tmpak2llvmy_mondo_relaxed.owl CATC2|cataract type 18|cataract 18 autosomal recessive|CTRCT18|cataract (disease) caused by mutation in FYCO1|FYCO1 cataract (disease)|autosomal recessive congenital cataract 2|cataract 18|cataract, autosomal recessive congenital 2 ICD10:Q12.0|MESH:C535337|GARD:0009892|OMIM:610019|DOID:0110238 owl:Class HGNC:14673 biolink:NamedThing FYCO1 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014768 biolink:NamedThing superior palpebral vein A blood vessel that drains from from an upper eyelid. tmpak2llvmy_mondo_relaxed.owl venae palpebrales superiores owl:Class MONDO:0014632 biolink:NamedThing hypomyelinating leukodystrophy 10 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 10|leukodystrophy, hypomyelinating, 10|HLD10|PYCR2 leukodystrophy|hypomyelinating leukodystrophy type 10|leukodystrophy caused by mutation in PYCR2 UMLS:C4225332|OMIM:616420|DOID:0060788 owl:Class PATO:0000610 biolink:NamedThing open A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view. tmpak2llvmy_mondo_relaxed.owl owl:Class Nbec2ed7c303744e19ff46df9fd19d171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0005117 biolink:NamedThing metanephric distal convoluted tubule The metanephric distal convoluted tubule is a portion of the metanephric nephron tubule that connects the metanephric loop of Henle to the collecting duct[GO]. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032624 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 19 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19|MC1DN19 OMIM:618241 owl:Class MONDO:0000301 biolink:NamedThing ophthalmomyiasis An myiasis caused by infection with Oestrus ovis. tmpak2llvmy_mondo_relaxed.owl ophthalmomyiasis|Oestrus ovis caused myiasis|ophthalmic myiasis|Oestrus ovis myiasis DOID:0050268|UMLS:C0027034|SCTID:48216006 owl:Class CHEBI:57652 biolink:NamedThing chondroitin D-glucuronate anion Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3. tmpak2llvmy_mondo_relaxed.owl chondroitin D-glucuronate|chondroitin D-glucuronate polyanion owl:Class MONDO:0013093 biolink:NamedThing glioma susceptibility 3 Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. tmpak2llvmy_mondo_relaxed.owl glioma susceptibility type 3|GLM3|malignant glioma caused by mutation in BRCA2|glioma susceptibility 3|BRCA2 malignant glioma OMIM:613029 owl:Class HGNC:14468 biolink:NamedThing SLC26A8 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:171 biolink:NamedThing Leptospira tmpak2llvmy_mondo_relaxed.owl PMID:10425768|GC_ID:11|PMID:9103653|PMID:1581182|PMID:19868121 NCBITaxon:29512|NCBITaxon:29516|NCBITaxon:29514 ncbi_taxonomy owl:Class N13427b1733f143769a16628a044c5695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011113 biolink:NamedThing Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 4C|Charcot Marie Tooth disease type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease, type 4C|SH3TC2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy, type 4C|Charcot-Marie-Tooth neuropathy type 4C|CMT4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|CMT 4C NCIT:C129864|SCTID:715797002|GARD:0009201|Orphanet:99949|MESH:C535423|ICD10:G60.0|OMIM:601596|UMLS:C1866636|DOID:0110183 https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c owl:Class MONDO:0001739 biolink:NamedThing purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. tmpak2llvmy_mondo_relaxed.owl acute suppurative labyrinthitis|bacterial labyrinthitis|suppurative labyrinthitis DOID:13534|ICD9:386.33|SCTID:24817009|UMLS:C0155506 owl:Class MONDO:0015303 biolink:NamedThing macular amyloidosis Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. tmpak2llvmy_mondo_relaxed.owl ICD10:E85.4+|Orphanet:137814|UMLS:C0544839|ICD10:L99.0* owl:Class MONDO:0005826 biolink:NamedThing lipid pneumonia Pneumonia due to aspiration or inhalation of various oily or fatty substances. tmpak2llvmy_mondo_relaxed.owl exogenous lipoid pneumonia|lipoid pneumonitis|lipoidpneumonitis|cholesterol pneumonia|pneumonia lipid MESH:D011017|GARD:0006394|SCTID:707449006|ICD10:J69.1|EFO:0007345|DOID:3241|UMLS:C0032298 owl:Class MONDO:0011820 biolink:NamedThing scoliosis, isolated, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl scoliosis, isolated, susceptibility to, 2|IS2 OMIM:607354 owl:Class MONDO:0004375 biolink:NamedThing end stage renal failure Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. tmpak2llvmy_mondo_relaxed.owl renal disease (ESRD), end stage|disease (ESRD), end stage renal|ESRD|end stage renal disease (ESRD)|end stage kidney failure|ESRD, end stage renal disease|chronic kidney disease, stage 5|renal disease, end stage|end stage kidney disease|end stage renal disease SCTID:46177005|ICD9:585.6|NCIT:C9439|DOID:783 owl:Class MONDO:0001153 biolink:NamedThing gender dysphoria A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5) tmpak2llvmy_mondo_relaxed.owl transsexualism DOID:10919|SCTID:93461009|ICD9:302.50|MESH:D000068116 owl:Class MONDO:0022889 biolink:NamedThing craniostenosis with congenital heart disease intellectual disability tmpak2llvmy_mondo_relaxed.owl GARD:0001585 https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation owl:Class HP:0025270 biolink:NamedThing Abnormality of esophagus physiology Any physiological abnormality of the esophagus. tmpak2llvmy_mondo_relaxed.owl Functional abnormality of the oesophagus|Abnormality of oesophagus physiology|Functional abnormality of the esophagus 2016-12-18 13:39:06+00:00 HPO:probinson human_phenotype owl:Class MONDO:0001954 biolink:NamedThing thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. tmpak2llvmy_mondo_relaxed.owl ICD10:I82.1|DOID:14392|SCTID:31268005|UMLS:C0152250|ICD9:453.1 owl:Class MONDO:0017538 biolink:NamedThing Preaxial polydactyly of toes, bilateral tmpak2llvmy_mondo_relaxed.owl bifid great toes, bilateral|bifid halluces, bilateral|bifid hallux, bilateral Orphanet:295177|ICD10:Q69.2 owl:Class MONDO:0032679 biolink:NamedThing combined oxidative phosphorylation deficiency 37 tmpak2llvmy_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37|COXPD37 OMIM:618329|DOID:0111499 owl:Class MONDO:0014403 biolink:NamedThing short stature due to GHSR deficiency Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. tmpak2llvmy_mondo_relaxed.owl GHDP|short stature due to growth hormone secretagogue receptor deficiency|ghrelin receptor deficiency|growth hormone deficiency, isolated partial SCTID:766817004|ICD10:E34.3|OMIM:615925|Orphanet:314811 owl:Class MONDO:0015734 biolink:NamedThing rectal duplication Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. tmpak2llvmy_mondo_relaxed.owl Orphanet:171220|SCTID:725910009|ICD10:Q43.4 owl:Class MONDO:0017699 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form tmpak2llvmy_mondo_relaxed.owl GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|GBE deficiency, childhood combined hepatic and myopathic form Orphanet:308684|ICD10:E74.0|MedDRA:10053250 owl:Class MONDO:0015711 biolink:NamedThing specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells tmpak2llvmy_mondo_relaxed.owl 2022-03-01 ICD10:D80.6|Orphanet:169443 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency predominantly affecting antibody production' MONDO_0015132 owl:Class MONDO:0009442 biolink:NamedThing ichthyosis congenita with biliary atresia tmpak2llvmy_mondo_relaxed.owl ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia|ichthyosis congenita with biliary atresia MESH:C562886|SCTID:235916001|OMIM:242400|GARD:0002948 https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia owl:Class MONDO:0016041 biolink:NamedThing congenital microgastria Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. tmpak2llvmy_mondo_relaxed.owl Orphanet:199293|ICD10:Q40.2|ICD9:750.7|SCTID:83714006 owl:Class MONDO:0001874 biolink:NamedThing toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. tmpak2llvmy_mondo_relaxed.owl ototoxicity SCTID:9062008|ICD9:386.34|SCTID:3344003|DOID:14081|UMLS:C0155507|EFO:0006951 owl:Class MONDO:0017258 biolink:NamedThing idiopathic panuveitis Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. tmpak2llvmy_mondo_relaxed.owl Orphanet:280921|ICD10:H44.1|SCTID:766933000 owl:Class MONDO:0008974 biolink:NamedThing Greenberg dysplasia A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. tmpak2llvmy_mondo_relaxed.owl hem dysplasia|hem skeletal dysplasia|hem|Greenberg dysplasia|hydrops, ectopic calcification, moth-eaten skeletal dysplasia|autosomal recessive lethal chondrodystrophy with congenital hydrops|GRBGD|skeletal dysplasia, Greenberg type|hydrops-ectopic calcification-motheaten syndrome|chondrodystrophy, hydropic and prenatally lethal type|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|hem/Greenberg dysplasia|moth-eaten skeletal dysplasia|Greenberg skeletal dysplasia DOID:0111588|OMIM:215140|ICD10:Q77.3|UMLS:C2931048|SCTID:389261002|MESH:C535858|Orphanet:1426|UMLS:CN199524|GARD:0008754 https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia owl:Class MONDO:0018644 biolink:NamedThing autosomal dominant complex spastic paraplegia type 9B tmpak2llvmy_mondo_relaxed.owl AD-SPG9B ICD10:G11.4|UMLS:CN237702|Orphanet:447757 Editor note: check this owl:Class MONDO:0010377 biolink:NamedThing myopia 13, X-linked tmpak2llvmy_mondo_relaxed.owl myopia 13, X-linked|MYP13 OMIM:300613|MESH:C564473|UMLS:C1845096 owl:Class MONDO:0023071 biolink:NamedThing enterovirus antenatal infection tmpak2llvmy_mondo_relaxed.owl GARD:0002130 https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection owl:Class HP:0010702 biolink:NamedThing Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. tmpak2llvmy_mondo_relaxed.owl Increased antibody level in blood|Hyperglobulinemia|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased gamma globulin|Hypergammaglobulinemia|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinaemia MSH:D006942|SNOMEDCT_US:127388009|SNOMEDCT_US:129646001|UMLS:C1306857|UMLS:C0541985|UMLS:C0020455|UMLS:C2048011|UMLS:C0151669 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2010-03-22T08:20:07Z HP:0002852|HP:0004435|HP:0004314 human_phenotype owl:Class MONDO:0012569 biolink:NamedThing mitral valve prolapse, myxomatous 3 tmpak2llvmy_mondo_relaxed.owl mitral valve prolapse, myxomatous 3|MMVP3|MVP3|myxomatous mitral valve prolapse 3|mitral valve prolapse 3 UMLS:C1835814|OMIM:610840|MESH:C563655 owl:Class MONDO:0018780 biolink:NamedThing congenital generalized hypercontractile muscle stiffness syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:476406 owl:Class MONDO:0003152 biolink:NamedThing adult brainstem gliosarcoma tmpak2llvmy_mondo_relaxed.owl adult brainstem gliosarcoma|adult brain stem gliosarcoma NCIT:C9370|DOID:4812|UMLS:C1377914 owl:Class CHEBI:51447 biolink:NamedThing organic univalent group tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032912 biolink:NamedThing Coffin-Siris syndrome 11 tmpak2llvmy_mondo_relaxed.owl COFFIN-SIRIS SYNDROME 11|CSS11 OMIM:618779 owl:Class MONDO:0004575 biolink:NamedThing choline deficiency disease A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) tmpak2llvmy_mondo_relaxed.owl choline deficiency MESH:D002796|SCTID:238113006|UMLS:C0008412|DOID:8456|ICD9:266.2 owl:Class MONDO:0022978 biolink:NamedThing diaphragmatic hernia upper limb defects tmpak2llvmy_mondo_relaxed.owl GARD:0001847 https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects owl:Class MONDO:0017061 biolink:NamedThing closed iniencephaly tmpak2llvmy_mondo_relaxed.owl SCTID:203927003|Orphanet:268366|ICD10:Q00.2 owl:Class MONDO:0008706 biolink:NamedThing Ackerman syndrome Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. tmpak2llvmy_mondo_relaxed.owl pyramidal molar-glaucoma-upper abnormal lip syndrome|Ackerman fused molar rooth syndrome|glaucoma, juvenile, with unusual upper lip and dental roots|juvenile glaucoma with unusual upper lip and dental roots|pyramidal molars, glaucoma, abnormal upper lip|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|Ackerman syndrome UMLS:C1860167|MESH:C538170|ICD10:K00.2|Orphanet:2561|OMIM:200970|SCTID:722280000|GARD:0000469 https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome owl:Class MONDO:0019766 biolink:NamedThing X-linked intellectual disability, Porteous type tmpak2llvmy_mondo_relaxed.owl UMLS:CN206701|Orphanet:93945 owl:Class MONDO:0009987 biolink:NamedThing autosomal recessive pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa, pericentral|retinopathy, pericentral pigmentary, autosomal recessive DOID:0110422|OMIM:268060|UMLS:C1849398|MESH:C564838|ICD10:H35.5 owl:Class CL:1000073 biolink:NamedThing spinal cord radial glial cell tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016062 biolink:NamedThing median cleft lip/mandibule Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification. tmpak2llvmy_mondo_relaxed.owl median cleft lower facial stage SCTID:723383005|Orphanet:2006|ICD10:Q36.1 owl:Class MONDO:0007782 biolink:NamedThing hyperthermia, cutaneous, with headaches and nausea tmpak2llvmy_mondo_relaxed.owl hyperthermia, cutaneous, with headaches and nausea|farmer syndrome UMLS:C1840373|MESH:C564156|OMIM:145590 owl:Class MONDO:0030010 biolink:NamedThing hypogonadotropic hypogonadism 25 with anosmia tmpak2llvmy_mondo_relaxed.owl HH25|hypogonadotropic hypogonadism 25 with anosmia|HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM:618841 owl:Class OBI:0002076 biolink:NamedThing collection of specimens A material entity that has two or more specimens as its parts. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020794 biolink:NamedThing colorectal medullary carcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpak2llvmy_mondo_relaxed.owl colorectal medullary carcinoma NCIT:C43590 owl:Class NCBITaxon:47570 biolink:NamedThing Schizotrypanum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009164 biolink:NamedThing encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts tmpak2llvmy_mondo_relaxed.owl Lyon syndrome|encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts UMLS:C1856990|MESH:C565596|OMIM:225740 owl:Class CL:0000329 biolink:NamedThing oxygen accumulating cell tmpak2llvmy_mondo_relaxed.owl cell owl:Class OBO:CHR_9606-chr13q34 biolink:NamedThing chr13q34 (Human) tmpak2llvmy_mondo_relaxed.owl 114364328 109600000 hg38 owl:Class UBERON:0035818 biolink:NamedThing visceral fat Any fat deposit surrounding a visceral organ. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010300 biolink:NamedThing intellectual disability, X-linked 53 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 53|MRX53|intellectual disability, X-linked 53 OMIM:300324|UMLS:C1845889|MESH:C564533 owl:Class MONDO:0014277 biolink:NamedThing developmental dysplasia of the hip 2 tmpak2llvmy_mondo_relaxed.owl developmental dysplasia of the hip 2|DDH2 OMIM:615612|UMLS:C3715079 owl:Class GO:0032769 biolink:NamedThing negative regulation of monooxygenase activity Any process that stops or reduces the activity of a monooxygenase. tmpak2llvmy_mondo_relaxed.owl downregulation of monooxygenase activity|inhibition of monooxygenase activity|down regulation of monooxygenase activity|down-regulation of monooxygenase activity owl:Class MONDO:0015385 biolink:NamedThing external auditory canal aplasia/hypoplasia tmpak2llvmy_mondo_relaxed.owl external auditory canal stenosis/atresia Orphanet:141074|ICD10:Q16.1 owl:Class UBERON:0005946 biolink:NamedThing outflow tract of atrium An outflow tract that is part of a cardiac atrium. tmpak2llvmy_mondo_relaxed.owl outflow part of atrium owl:Class MONDO:0015270 biolink:NamedThing butyrylcholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. tmpak2llvmy_mondo_relaxed.owl hypocholinesterasemia, fluoride-resistant, Japanese type|apnea, postanesthetic|butyrylcholinesterase deficiency|pseudocholinesterase E1|Suxamethonium sensitivity|BCHED|succinylcholine sensitivity|cholinesterase 2 deficiency|pseudocholinesterase deficiency|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|Acholinesterasemia OMIM:617936|UMLS:C1283400|Orphanet:132|MESH:C537417|SCTID:191397007|GARD:0007482|ICD9:289.89 owl:Class MONDO:0010868 biolink:NamedThing rippling muscle disease 1 tmpak2llvmy_mondo_relaxed.owl rippling muscle disease 1|RMD1|rippling muscle disease, 1 DOID:0070308|OMIM:600332|GARD:0009165 owl:Class HGNC:3721 biolink:NamedThing FKBP5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030044 biolink:NamedThing pseudo-TORCH syndrome 3 tmpak2llvmy_mondo_relaxed.owl PSEUDO-TORCH SYNDROME 3|PTORCH3|pseudo-torch syndrome 3 OMIM:618886 owl:Class MONDO:0012298 biolink:NamedThing omphalocele, diaphragmatic hernia, and radial ray defects tmpak2llvmy_mondo_relaxed.owl omphalocele, diaphragmatic hernia, and radial ray defects|Gershoni-Baruch syndrome MESH:C563701|OMIM:609545|GARD:0010354|UMLS:C1836007 owl:Class MONDO:0009682 biolink:NamedThing muscular dystrophy, congenital, with rapid progression tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, congenital, with rapid progression MESH:C564983|OMIM:254100|UMLS:C1850840 owl:Class NCBITaxon:2605435 biolink:NamedThing Evosea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008578 biolink:NamedThing toe, rotated fifth tmpak2llvmy_mondo_relaxed.owl toe, rotated fifth OMIM:189150 owl:Class MONDO:0054852 biolink:NamedThing peeling skin syndrome 6 tmpak2llvmy_mondo_relaxed.owl PSS6|peeling skin syndrome 6 OMIM:618084 owl:Class HP:0001482 biolink:NamedThing Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. tmpak2llvmy_mondo_relaxed.owl Firm lump under the skin|Multiple, subcutaneous nodules|Nodule below the skin|Growth of abnormal tissue under the skin|Subcutaneous nodules UMLS:C0746926|UMLS:C0151811|SNOMEDCT_US:95325000 Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. HP:0005903 human_phenotype owl:Class HP:0200036 biolink:NamedThing Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. tmpak2llvmy_mondo_relaxed.owl Growth of abnormal tissue on or under the skin SNOMEDCT_US:95319004|UMLS:C0037287 A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. sebastiankohler 2010-06-18T01:48:50Z human_phenotype owl:Class MONDO:0011834 biolink:NamedThing spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. tmpak2llvmy_mondo_relaxed.owl SCA18|sensorimotor neuropathy with ataxia, autosomal dominant|spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant|SMNA GARD:0009976|UMLS:C1843884|ICD10:G11.8|Orphanet:98771|SCTID:719250005|UMLS:C4304848|MESH:C537197|OMIM:607458|DOID:0050969 owl:Class GO:0012506 biolink:NamedThing vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030202 biolink:NamedThing heparin metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpak2llvmy_mondo_relaxed.owl heparan sulfate metabolic process|heparin metabolism owl:Class MONDO:0006905 biolink:NamedThing pigmented spindle cell nevus A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma. tmpak2llvmy_mondo_relaxed.owl spindle cell Nevus of Reed SCTID:254812004|MESH:D018331|EFO:1001105|NCIT:C4751 owl:Class MONDO:0019820 biolink:NamedThing univentricular cardiopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:95483 owl:Class MONDO:0021811 biolink:NamedThing acute mountain sickness Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances. tmpak2llvmy_mondo_relaxed.owl high altitude pulmonary edema|acosta's disease|altitude anoxia|high altitude cerebral edema|acute mountain sickness|Mountain sickness|altitude sickness|soroche ICD9:993.2|UMLS:C0238284|SCTID:78590007|GARD:0005730 https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness owl:Class MONDO:0012263 biolink:NamedThing autoimmune disease, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl autoimmune disease susceptibility locus, chromosome 4-related|vitiligo-associated multiple autoimmune disease susceptibility 5|autoimmune disease, susceptibility to, 4|AIS4 OMIM:609400 owl:Class MONDO:0012598 biolink:NamedThing fibromatosis, gingival, 4 tmpak2llvmy_mondo_relaxed.owl HGF4|GINGF4|fibromatosis gingival, hereditary, 4|fibromatosis, gingival, hereditary, 4|hereditary gingival fibromatosis, 4|GGF4|gingival fibromatosis, 4|fibromatosis, gingival, 4 OMIM:611010|MESH:C567028|GARD:0002475 owl:Class MONDO:0008118 biolink:NamedThing odontomatosis-aortae esophagus stenosis syndrome Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. tmpak2llvmy_mondo_relaxed.owl odontoma dysphagia syndrome|boder syndrome|odontoma-dysphagia syndrome|Odontomatosis (multiple odontomas) with dysphagia MESH:C537740|GARD:0000238|OMIM:164330|Orphanet:2724|UMLS:C1834013|SCTID:716180009 owl:Class MONDO:0010834 biolink:NamedThing hirschsprung disease, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 5|HSCR5 OMIM:600156 owl:Class MONDO:0044648 biolink:NamedThing kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome tmpak2llvmy_mondo_relaxed.owl kyphoscoliosis-lateral tongue atrophy-HSP syndrome Orphanet:496689 owl:Class MONDO:0006755 biolink:NamedThing euthyroid sick syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. tmpak2llvmy_mondo_relaxed.owl sick-euthyroid syndrome|euthyroid sick syndrome|sick euthyroid syndrome DOID:2856|MESH:D005067|ICD10:E07.81|MedDRA:10015549|EFO:1000931|ICD9:790.94|NCIT:C113170|UMLS:C0015190|SCTID:237542005 owl:Class HP:0100303 biolink:NamedThing Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. tmpak2llvmy_mondo_relaxed.owl Muscle fiber cytoplasmic bodies|Muscle fibre cytoplasmic bodies|Muscle fibre cytoplasmatic inclusion bodies UMLS:C4022157 doelkens 2010-08-10T02:39:22Z HP:0003790 human_phenotype owl:Class MONDO:0001405 biolink:NamedThing dermatophytosis of groin and perianal area Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. tmpak2llvmy_mondo_relaxed.owl Dhobie itch|dermatophytosis of groin & perianal area|dermatophytosis of groin and perianal area|tinea cruris SCTID:399029005|DOID:11917|UMLS:C0011638|NCIT:C34535|ICD9:110.3 owl:Class MONDO:0010628 biolink:NamedThing immunoglobulin M, level of tmpak2llvmy_mondo_relaxed.owl immunoglobulin M, level of OMIM:308250 owl:Class MONDO:0014235 biolink:NamedThing chromosome 22q13 duplication syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 22q13 duplication syndrome UMLS:C3809844|DOID:0060437|OMIM:615538 owl:Class MONDO:0005238 biolink:NamedThing round cell liposarcoma A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. tmpak2llvmy_mondo_relaxed.owl cellular myxoid liposarcoma|round cell liposarcoma (morphologic abnormality)|round cell liposarcoma DOID:5692|EFO:0003084|UMLS:C0334471|SCTID:404070007|ICDO:8853/3|ICD9:171.9|NCIT:C4252 owl:Class MONDO:0017249 biolink:NamedThing congenital pulmonary airway malformation type 1 tmpak2llvmy_mondo_relaxed.owl congenital cystic disease of the lung type 1|CCAM type 1|CPAM type 1|congenital cystic adenomatous malformation of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1 Orphanet:280832|ICD10:Q33.0 owl:Class MONDO:0022404 biolink:NamedThing retinal ciliopathy due to mutation in usher gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156177 owl:Class MONDO:0008776 biolink:NamedThing amyloidosis of gingiva and conjunctiva, with intellectual disability tmpak2llvmy_mondo_relaxed.owl Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva with intellectual disability GARD:0000657|UMLS:C1859815|OMIM:204850|MESH:C565958 https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability owl:Class HGNC:26158 biolink:NamedThing ELMOD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032763 biolink:NamedThing immunodeficiency 62 tmpak2llvmy_mondo_relaxed.owl immunodeficiency 62|IMMUNODEFICIENCY 62|IMD62 OMIM:618459 owl:Class MONDO:0012380 biolink:NamedThing autosomal dominant nonsyndromic deafness 53 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant nonsyndromic sensorineural 53|autosomal dominant nonsyndromic deafness type 53|DFNA53|deafness, autosomal dominant 53|autosomal dominant deafness 53 GARD:0009934|UMLS:C1864957|MESH:C566495|OMIM:609965|ICD10:H90.3|DOID:0110579 owl:Class MONDO:0000610 biolink:NamedThing marantic endocarditis Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). tmpak2llvmy_mondo_relaxed.owl non-bacterial thrombotic endocarditis|nonbacterial thrombotic endocarditis MESH:D059905|DOID:0060068|SCTID:57181007 owl:Class NCBITaxon:85025 biolink:NamedThing Nocardiaceae tmpak2llvmy_mondo_relaxed.owl Williamsiaceae PMID:19244447|PMID:30186281|GC_ID:11 NCBITaxon:182102 ncbi_taxonomy owl:Class MONDO:0007392 biolink:NamedThing coxoauricular syndrome Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. tmpak2llvmy_mondo_relaxed.owl coxoauricular syndrome MESH:C565148|UMLS:C1852513|OMIM:122780|Orphanet:1508|ICD10:Q87.1|GARD:0001558|SCTID:732248005 https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome owl:Class NCBITaxon:119093 biolink:NamedThing Trichuridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001072 biolink:NamedThing mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. tmpak2llvmy_mondo_relaxed.owl ICD9:642.41|DOID:10590|ICD9:642.40|SCTID:41114007|ICD9:642.44|ICD9:642.43|ICD9:642.42 owl:Class MONDO:0007390 biolink:NamedThing coumarin resistance tmpak2llvmy_mondo_relaxed.owl coumarin, poor metabolism of|coumarin sensitivity|warfarin resistance|coumarin resistance|warfarin sensitivity OMIM:122700|GARD:0012721|SCTID:726543008|UMLS:C0750384|GARD:0012639|UMLS:CN078029 owl:Class MONDO:0016491 biolink:NamedThing hemoglobin E-beta-thalassemia syndrome Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. tmpak2llvmy_mondo_relaxed.owl HbE-beta-thalassemia syndrome|E-beta-thalassemia UMLS:C0472777|Orphanet:231249|ICD10:D58.2 owl:Class HGNC:6762 biolink:NamedThing MAD1L1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010245 biolink:NamedThing X-linked cone-rod dystrophy 2 tmpak2llvmy_mondo_relaxed.owl CORDX2|X-linked cone dystrophy 2|X-linked cone-rod dystrophy type 2|cone-rod dystrophy X-linked 2|cone dystrophy X-linked 2|cone dystrophy 2, X-linked|COD2|cone-rod dystrophy, X-linked, 2 OMIM:300085|GARD:0001462|MESH:C564717|DOID:0111006 https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2 owl:Class MONDO:0008887 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 1 tmpak2llvmy_mondo_relaxed.owl bronchiectasis with or without elevated sweat chloride type 1|BESC1|bronchiectasis with or without elevated sweat chloride 1|cystic fibrosis-like syndrome OMIM:211400|DOID:0080526|UMLS:C2749757|MESH:C567618 owl:Class MONDO:0012302 biolink:NamedThing parietal foramina 3 tmpak2llvmy_mondo_relaxed.owl PFM3|parietal foramina 3 UMLS:C1835980|OMIM:609566|MESH:C563697 owl:Class MONDO:0016128 biolink:NamedThing parasitic myositis tmpak2llvmy_mondo_relaxed.owl ICD9:728.2|SCTID:60970005|UMLS:C0263997|Orphanet:206997|ICD10:M60.0 owl:Class MONDO:0001225 biolink:NamedThing opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. tmpak2llvmy_mondo_relaxed.owl SCTID:5602001|ICD9:305.5|DOID:11206|ICD10:F11.1 owl:Class NCBITaxon:39759 biolink:NamedThing Deltavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2842321 biolink:NamedThing Kolmioviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024465 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 2 tmpak2llvmy_mondo_relaxed.owl pulmonary alveolar proteinosis, congenital, 2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|interstitial lung disease due to surfactant Protein C deficiency|SMDP2|surfactant metabolism dysfunction, pulmonary, 2 OMIM:610913 owl:Class UBERON:0010052 biolink:NamedThing mucosa of dorsum of tongue A mucosa that is part of a dorsum of tongue. tmpak2llvmy_mondo_relaxed.owl mucosa of dorsal surface of tongue owl:Class MONDO:0009371 biolink:NamedThing 3-hydroxyisobutyric aciduria 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl 3-hydroxyisobutyric aciduria|disorder of valine metabolism Orphanet:939|MESH:C535312|ICD10:E71.1|UMLS:C0342737|ICD9:791.9|GARD:0005662|SCTID:237957007|OMIM:236795 https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria owl:Class HGNC:21863 biolink:NamedThing RBM28 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019335 biolink:NamedThing mild hyperphenylalaninemia Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. tmpak2llvmy_mondo_relaxed.owl mHPA|non-PKU HPA|mild HPA Orphanet:79651|ICD10:E70.1 owl:Class MONDO:0017677 biolink:NamedThing focal acral hyperkeratosis tmpak2llvmy_mondo_relaxed.owl PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis|punctate palmoplantar hyperkeratosis type 3 without elastoidosis UMLS:C1302839|Orphanet:308013|SCTID:400115004|ICD10:Q82.8 owl:Class MONDO:0011139 biolink:NamedThing preaxial hallucal polydactyly tmpak2llvmy_mondo_relaxed.owl preaxial hallucal polydactyly MESH:C566632|UMLS:C1866339|OMIM:601759 owl:Class MONDO:0030030 biolink:NamedThing Nizon-Isidor syndrome tmpak2llvmy_mondo_relaxed.owl NIZON-ISIDOR SYNDROME|NIZIDS|nizon-isidor syndrome OMIM:618872 owl:Class MONDO:0043156 biolink:NamedThing nephrotic syndrome ocular anomalies tmpak2llvmy_mondo_relaxed.owl Glastre Cochat Bouvier syndrome|familial infantile nephrotic syndrome with ocular abnormalities GARD:0003945|MESH:C536403|UMLS:C2931188 owl:Class MONDO:0018231 biolink:NamedThing primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments tmpak2llvmy_mondo_relaxed.owl primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 2022-01-01 Orphanet:364531 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class SO:0001510 biolink:NamedThing intrachromosomal A change in chromosomes that occurs between two separate chromosomes. tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0001509 biolink:NamedThing chromosomal_variation_attribute An attribute of a change in the structure or number of a chromosomes. tmpak2llvmy_mondo_relaxed.owl chromosomal variation attribute owl:Class HGNC:6062 biolink:NamedThing ING1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017482 biolink:NamedThing humeral agenesis/hypoplasia, unilateral tmpak2llvmy_mondo_relaxed.owl humeral intercalary meromelia, unilateral Orphanet:295061|ICD10:Q71.8 owl:Class MONDO:0009029 biolink:NamedThing cranial nerves, congenital paresis of tmpak2llvmy_mondo_relaxed.owl cranial nerves, congenital paresis of MESH:C565673|OMIM:218100|UMLS:C1857531 owl:Class MONDO:0012303 biolink:NamedThing migraine with or without aura, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, 8|Mgr8|migraine with or without aura, susceptibility to, type 8 OMIM:609570 owl:Class HGNC:8064 biolink:NamedThing NUP214 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0054785 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 6 tmpak2llvmy_mondo_relaxed.owl MMDS6|multiple MITOCHONDRIAL dysfunctions syndrome 6 DOID:0070332|UMLS:CN244567|OMIM:617954 owl:Class MONDO:0019552 biolink:NamedThing centrifugal lipodystrophy Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. tmpak2llvmy_mondo_relaxed.owl lipodystrophia centrifugalis abdominalis infantilis ICD10:E88.1|Orphanet:90156 owl:Class MONDO:0009887 biolink:NamedThing desquamative interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. tmpak2llvmy_mondo_relaxed.owl desquamative interstitial pneumonia|DIP|respiratory bronchiolitis-associated interstitial lung disease|ILD, desquamative|pneumonia, desquamative interstitial, familial|pneumonitis, desquamative interstitial, familial|respiratory bronchiolitis interstitial lung disease|interstitial pneumonitis, desquamative, familial|interstitial lung disease, desquamative|familial desquamative interstitial pneumonitis|RBILD SCTID:8549006|NCIT:C35288|ICD10:J84.1|ICD10:J84.115|ICD10:J84.117|Orphanet:98852|OMIM:263000|DOID:0050158|ICD9:516.37|ICD9:516.34|MESH:C562470|UMLS:C0238378 owl:Class MONDO:0002627 biolink:NamedThing chondroblastic osteosarcoma An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. tmpak2llvmy_mondo_relaxed.owl CHOS|chondroblastic osteogenic sarcoma|chondrosarcomatous osteogenic sarcoma|chondroblastic osteosarcoma (morphologic abnormality)|chondroblastic osteosarcoma DOID:3372|ONCOTREE:CHOS|ICDO:9181/3|NCIT:C4021|UMLS:C0279603 owl:Class MONDO:0011785 biolink:NamedThing hereditary spastic paraplegia 19 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia type 19|autosomal dominant spastic paraplegia 19|SPG19|spastic paraplegia 19, autosomal dominant|hereditary spastic paraplegia type 19|spastic paraplegia 19 DOID:0110772|ICD10:G11.4|Orphanet:100999|GARD:0009588|MESH:C536856|OMIM:607152|UMLS:C1846685|SCTID:763375003 owl:Class ENVO:00005750 biolink:NamedThing grassland soil A portion of soil which is found in a grassland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023238 biolink:NamedThing giant mammary hamartoma tmpak2llvmy_mondo_relaxed.owl giant hamartoma of the breast GARD:0000208|MESH:C536818|UMLS:C2931343 https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma owl:Class MONDO:0019522 biolink:NamedThing recessive dystrophic epidermolysis bullosa-generalized other Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. tmpak2llvmy_mondo_relaxed.owl RDEB, non-Hallopeau-Siemens type|RDEB-generalized other|generalized mitis RDEB|RDEB, generalized intermediate|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|recessive dystrophic epidermolysis bullosa, generalized intermediate|RDEB-O|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|RDEB generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other UMLS:CN206337|Orphanet:89842|GARD:0012794|ICD10:Q81.2 https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other owl:Class MONDO:0008579 biolink:NamedThing toes, relative length of first and second tmpak2llvmy_mondo_relaxed.owl toes, relative length of first and second OMIM:189200 owl:Class MONDO:0032764 biolink:NamedThing Khan-Khan-Katsanis syndrome tmpak2llvmy_mondo_relaxed.owl KHAN-KHAN-KATSANIS SYNDROME|3K Syndrome|3KS OMIM:618460 owl:Class MONDO:0005295 biolink:NamedThing intermittent vascular claudication A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. tmpak2llvmy_mondo_relaxed.owl Charcot's syndrome|intermittent claudication DOID:3669|ICD9:440.21|SCTID:63491006|ICD10:I73.9|MESH:D007383|EFO:0003876|UMLS:C0021775 owl:Class MONDO:0015605 biolink:NamedThing distal monosomy 9p Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. tmpak2llvmy_mondo_relaxed.owl telomeric deletion 9p|monosomy 9pter|distal deletion 9p|distal monosomy type 9p ICD10:Q93.5|SCTID:763530000|Orphanet:1642|MESH:C538025 owl:Class MONDO:0007224 biolink:NamedThing brachydactyly, type E, with atrial septal defect, type 2 tmpak2llvmy_mondo_relaxed.owl brachydactyly, type E, with atrial septal defect, type II UMLS:C1862101|OMIM:113301|MESH:C566193 owl:Class ENVO:01001782 biolink:NamedThing landmass A large continuous area of land, either surrounded by sea or contiguous with another landmass. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020602 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 1 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. tmpak2llvmy_mondo_relaxed.owl dysplasia gigantism syndrome, X-linked|GPC3 Simpson-Golabi-Behmel syndrome|DGSX Golabi-Rosen syndrome|bulldog syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Sgbs|Simpson-Golabi-Behmel syndrome, type 1|Simpson dysmorphia syndrome|Simpson-Golabi-Behmel syndrome type 1|Golabi-Rosen syndrome|SGBS1 OMIM:312870|DOID:0060248 owl:Class HP:0010668 biolink:NamedThing Abnormality of the zygomatic bone An abnormality of the zygomatic bone. tmpak2llvmy_mondo_relaxed.owl Anomaly of the zygomatic bone|Abnormality of the cheekbone|Deformity of the zygomatic bone|Deformity of the cheekbone|Malformation of the zygomatic bone UMLS:C4023749 peter 2010-02-26T08:13:11Z human_phenotype owl:Class MONDO:0020980 biolink:NamedThing hair nevus A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. tmpak2llvmy_mondo_relaxed.owl hair nevus|hairy nevus|nevoid hypertrichosis SCTID:201161009|UMLS:C0018508|NCIT:C3074 owl:Class MONDO:0020979 biolink:NamedThing pilosebaceous hamartoma A hamartoma characterized by localized pilosebaceous apparatus malformation. tmpak2llvmy_mondo_relaxed.owl pilosebaceous hamartoma NCIT:C5565 owl:Class MONDO:0004568 biolink:NamedThing paralytic ileus An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. tmpak2llvmy_mondo_relaxed.owl paralytic ileus (disease)|paralytic ileus paralytic ileus (disease) ICD10:K56.0|UMLS:C0030446|HP:0002590|ICD9:560.1|NCIT:C93045|SCTID:55525008|DOID:8442 owl:Class MONDO:0022846 biolink:NamedThing congenital nonhemolytic jaundice tmpak2llvmy_mondo_relaxed.owl GARD:0006177 https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice owl:Class MONDO:0019577 biolink:NamedThing anonychia-onychodystrophy syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C536378|Orphanet:90390|UMLS:C1862840|ICD10:Q84.3 owl:Class MONDO:0009654 biolink:NamedThing mucopolysaccharidoses, unclassified types tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidoses, unclassified types 2022-01-01 UMLS:C0220752|MESH:C562442|OMIM:252700 Reason: out of scope. Term to consider: MONDO_0019249. MONDO:0019249 owl:Class MONDO:0022839 biolink:NamedThing congenital human immunodeficiency virus tmpak2llvmy_mondo_relaxed.owl neonatal human immunodeficiency virus|congenital HIV|neonatal HIV UMLS:C0520783|GARD:0010328 https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus owl:Class HGNC:2309 biolink:NamedThing CPLX1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003616 biolink:NamedThing salpingitis isthmica nodosa Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. tmpak2llvmy_mondo_relaxed.owl SCTID:36742000|NCIT:C40119|UMLS:C0269043|DOID:5730 owl:Class MONDO:0033365 biolink:NamedThing developmental and epileptic encephalopathy, 56 tmpak2llvmy_mondo_relaxed.owl DEE56|EIEE56|infantile epileptic encephalopathy 56|epileptic encephalopathy, early infantile, 56 OMIM:617665|UMLS:CN477042|DOID:0080282 owl:Class MONDO:0020359 biolink:NamedThing congenital symblepharon tmpak2llvmy_mondo_relaxed.owl DOID:0111720|Orphanet:98948|ICD10:Q11.2 owl:Class MONDO:0008792 biolink:NamedThing familial angiolipomatosis Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. tmpak2llvmy_mondo_relaxed.owl angiolipomatosis, familial|angiolipoma Microthromboticum OMIM:206550|ICD10:D17.9|Orphanet:199279|UMLS:C1859784|MESH:C565951 owl:Class MONDO:0017659 biolink:NamedThing sporadic hyperekplexia tmpak2llvmy_mondo_relaxed.owl ICD10:G25.8|Orphanet:306776 owl:Class NCBITaxon:41011 biolink:NamedThing Tineoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:98969 ncbi_taxonomy owl:Class MONDO:0014822 biolink:NamedThing 15q14 microdeletion syndrome 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl monosomy 15q14|Del(15)(q14)|chromosome 15q14 deletion syndrome UMLS:C4305230|OMIM:616898|UMLS:C4225666|ICD10:Q93.5|SCTID:719575008|Orphanet:261190 owl:Class MONDO:0022693 biolink:NamedThing cerebral calcification cerebellar hypoplasia tmpak2llvmy_mondo_relaxed.owl GARD:0001201 https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia owl:Class MONDO:0033258 biolink:NamedThing deafness, autosomal dominant 71 tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 71|deafness, autosomal dominant 71|DFNA71 OMIM:617605|DOID:0080267 owl:Class HGNC:4519 biolink:NamedThing GPR68 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014622 biolink:NamedThing isolated focal non-epidermolytic palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, nonepidermolytic, focal type 2|palmoplantar keratoderma, nonepidermolytic, focal 2|FNEPPK2 UMLS:C4225339|OMIM:616400|Orphanet:448264 owl:Class MONDO:0020320 biolink:NamedThing acute myeloblastic leukemia with maturation An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl FAB M2|M2 acute myelogenous leukemia|M2 acute myeloblastic leukemia|acute myeloblastic leukemia type 2|M2 acute myeloid leukemia with maturation|AML M2|M2 acute myeloblastic leukemia with maturation|AML with maturation|M2 acute myelogenous leukemia with maturation|M2 acute granulocytic leukemia|acute myelogenous leukemia with maturation|acute myeloblastic leukemia M2|M2 acute myelocytic leukemia with maturation|acute myeloid leukemia with maturation|acute myelocytic leukemia with maturation|M2 acute myeloid leukemia|acute myeloid leukemia (AML-M2)|AM|acute M2 myeloid leukemia|LAM M2 NCIT:C3250|Orphanet:98834|ICDO:9874/3|GARD:0000527|EFO:0003028|ICD10:C92.0|ONCOTREE:AM https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation owl:Class MONDO:0025085 biolink:NamedThing hepatitis, viral, animal Inflammation of the liver in animals due to viral infection. tmpak2llvmy_mondo_relaxed.owl MESH:D006524 owl:Class MONDO:0001135 biolink:NamedThing voyeurism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity. tmpak2llvmy_mondo_relaxed.owl ICD9:302.82|SCTID:63835008|NCIT:C94360|MESH:D014843|DOID:10834|ICD10:F65.3 owl:Class MONDO:0056795 biolink:NamedThing X-linked spermatogenic failure 1 tmpak2llvmy_mondo_relaxed.owl Del Castillo syndrome|Sertoli cell-only syndrome|SPGFX1|spermatogenic failure, X-linked, 1|spermatogenic failure, X-linked, type 1|Germinal cell aplasia OMIM:305700|DOID:0070189 https://github.com/monarch-initiative/mondo/issues/3633 owl:Class MONDO:0011050 biolink:NamedThing microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. tmpak2llvmy_mondo_relaxed.owl Ellis Yale Winter syndrome|Ellis-Yale-Winter syndrome|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs|microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis GARD:0002098|OMIM:601355|Orphanet:2516|MESH:C563341|ICD10:Q87.8|SCTID:719379001 owl:Class CL:0008030 biolink:NamedThing excitatory neuron tmpak2llvmy_mondo_relaxed.owl dos 2017-07-12 11:11:06+00:00 owl:Class MONDO:0013065 biolink:NamedThing premature ovarian failure 7 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. tmpak2llvmy_mondo_relaxed.owl adrenal insufficiency, Nr5A1-related|primary ovarian failure caused by mutation in NR5A1|NR5A1 primary ovarian failure|premature ovarian failure type 7|Pof7|premature ovarian failure 7 OMIM:612964|MESH:C567838|UMLS:C2751825 owl:Class MONDO:0017831 biolink:NamedThing mild Canavan disease Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. tmpak2llvmy_mondo_relaxed.owl juvenile Canavan disease Orphanet:314918|ICD10:E75.2 owl:Class MONDO:0001565 biolink:NamedThing abnormal retinal correspondence tmpak2llvmy_mondo_relaxed.owl ICD9:368.34|DOID:12668|UMLS:C0155010|ICD10:H53.31|SCTID:79195003 owl:Class FOODON:03420122 biolink:NamedThing nonmeat part of animal Bone, feathers, shell, skin or trim fat. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019898 biolink:NamedThing distal monosomy 14q Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. tmpak2llvmy_mondo_relaxed.owl distal monosomy type 14q|distal deletion 14q|telomeric deletion 14q Orphanet:96150|ICD10:Q93.5 owl:Class MONDO:0011647 biolink:NamedThing Alzheimer disease 7 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. tmpak2llvmy_mondo_relaxed.owl Alzheimer disease type 7|AD7|Alzheimer's disease 7|Alzheimer disease, familial 7|Ad7|Alzheimer's disease type 7|Alzheimer disease, familial, 7|Alzheimer disease 7 MESH:C565251|UMLS:C1853555|ICD10:G30|DOID:0110039|OMIM:606187 owl:Class MONDO:0005847 biolink:NamedThing middle lobe syndrome Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl SCTID:28295001|UMLS:C0026069|DOID:2810|MESH:D008878|EFO:0007367 owl:Class MONDO:0032914 biolink:NamedThing ciliary dyskinesia, primary, 44 tmpak2llvmy_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 44, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 44|CILD44 OMIM:618781 owl:Class MONDO:0030835 biolink:NamedThing developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy tmpak2llvmy_mondo_relaxed.owl DIGFAN OMIM:619090 owl:Class GO:0055081 biolink:NamedThing anion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0011122 biolink:NamedThing Abnormality of skin physiology Any abnormality of the physiological function of the skin. tmpak2llvmy_mondo_relaxed.owl Abnormality of skin physiology UMLS:C4023527 peter 2011-06-12T10:05:14Z human_phenotype owl:Class MONDO:0001512 biolink:NamedThing intermittent proptosis tmpak2llvmy_mondo_relaxed.owl intermittent exophthalmos ICD9:376.34|ICD10:H05.25|DOID:12363|SCTID:49774006|UMLS:C0155270 owl:Class MONDO:0001145 biolink:NamedThing total third-nerve palsy tmpak2llvmy_mondo_relaxed.owl third or oculomotor nerve palsy, total|third nerve palsy with pupil involved|total third nerve palsy UMLS:C0271371|SCTID:194119004|DOID:10866|ICD9:378.52 owl:Class MONDO:0003652 biolink:NamedThing acute urate nephropathy Urolithiasis in which the composition of the stones is predominantly urate. tmpak2llvmy_mondo_relaxed.owl uric acid nephrolithiasis|uric acid urolithiasis SCTID:236496000|UMLS:C0341712|ICD9:274.11|NCIT:C123037|ICD9:583.9|UMLS:C0403719|DOID:580 owl:Class MONDO:0009307 biolink:NamedThing granulomatous disease with defect in neutrophil chemotaxis tmpak2llvmy_mondo_relaxed.owl granulomatous disease with defect in neutrophil chemotaxis OMIM:233670|UMLS:C1856261|MESH:C565534 owl:Class HP:0000112 biolink:NamedThing Nephropathy A nonspecific term referring to disease or damage of the kidneys. tmpak2llvmy_mondo_relaxed.owl Kidney damage|Kidney disease SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C1408258|MSH:D007674 human_phenotype owl:Class MONDO:0010456 biolink:NamedThing renal cell carcinoma, Xp11-associated tmpak2llvmy_mondo_relaxed.owl renal cell carcinoma, Xp11-associated|RCCX1 UMLS:C3275446|OMIM:300854 owl:Class CL:0000627 biolink:NamedThing transporting cell A cell involved in transporting nutrients, minerals, water, gases and other chemicals between cells for a variety of purposes including conveying nutrition to other tissues, removing waste products from the tissues, conveying gases for respiration, distributing heat and repelling invasion of foreign substances. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0044320 biolink:NamedThing retinitis pigmentosa 79 tmpak2llvmy_mondo_relaxed.owl RP79|retinitis pigmentosa 79 UMLS:C4479526|OMIM:617460 owl:Class MONDO:0019986 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy tmpak2llvmy_mondo_relaxed.owl ICD10:N04.8|Orphanet:97555|UMLS:CN206920 owl:Class MONDO:0015095 biolink:NamedThing Peters anomaly-cataract syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q13.3|Orphanet:101033|UMLS:C2931652|MESH:C537885 owl:Class MONDO:0007358 biolink:NamedThing comedones, familial Dyskeratotic tmpak2llvmy_mondo_relaxed.owl comedones, familial Dyskeratotic SCTID:254219004|MESH:C562838|UMLS:C0345424|ICD9:757.39|OMIM:120450 owl:Class MONDO:0002961 biolink:NamedThing large cell acanthoma tmpak2llvmy_mondo_relaxed.owl DOID:4321|NCIT:C27518|UMLS:C1334362 owl:Class MONDO:0011742 biolink:NamedThing hirschsprung disease, susceptibility to, 7 tmpak2llvmy_mondo_relaxed.owl HSCR7|Hirschsprung disease, susceptibility to, 7 OMIM:606875 owl:Class PATO:0002071 biolink:NamedThing increased affinity An affinity which is relatively high. tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03420295 biolink:NamedThing fruit seed (anatomical part) The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's). Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011561 biolink:NamedThing Alzheimer disease 6 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. tmpak2llvmy_mondo_relaxed.owl AD6|plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer disease 6|Alzheimer's disease type 6|Alzheimer disease 6, late onset|Alzheimer disease 6, late-onset|Alzheimer disease type 6|Alzheimer's disease 6 OMIM:605526|ICD10:G30|MESH:C565325|DOID:0110038 owl:Class MONDO:0022821 biolink:NamedThing congenital benign spinal muscular atrophy dominant tmpak2llvmy_mondo_relaxed.owl GARD:0001474 https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant owl:Class GO:0090274 biolink:NamedThing positive regulation of somatostatin secretion Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044763 biolink:NamedThing diarrheal disease secondary to decreased bowel motility A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion. tmpak2llvmy_mondo_relaxed.owl diarrhea from decreased bowel motility owl:Class MONDO:0011554 biolink:NamedThing deafness, nonsyndromic, modifier 1 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 26, modifier of|DFNM1|DFNB26M|deafness, nonsyndromic, modifier Of, 1|deafness, autosomal recessive 26, modifier OF|Dfnb26, suppressor of|deafness, nonsyndromic, modifier 1|Dfnb26, modifier of OMIM:605429 owl:Class HP:0005406 biolink:NamedThing Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. tmpak2llvmy_mondo_relaxed.owl Recurrent episodes of infectious dermatitis|Recurrent episodes of impetigo|Recurrent bacterial skin infections|Recurrent pyogenic skin infections|Recurrent cutaneous pyogenic infections UMLS:C1835686 Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. HP:0000983 human_phenotype owl:Class NCBITaxon:196 biolink:NamedThing Campylobacter fetus tmpak2llvmy_mondo_relaxed.owl Spirillum fetus|Vibrio fetus GC_ID:11|PMID:11321120|PMID:1354478 ncbi_taxonomy owl:Class MONDO:0018813 biolink:NamedThing high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement tmpak2llvmy_mondo_relaxed.owl Orphanet:480541 owl:Class MONDO:0033046 biolink:NamedThing Meier-Gorlin syndrome 8 tmpak2llvmy_mondo_relaxed.owl MGORS8|Meier-Gorlin syndrome 8 UMLS:C4479655|OMIM:617564|DOID:0080255 owl:Class SO:0001483 biolink:NamedThing SNV SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. tmpak2llvmy_mondo_relaxed.owl single nucleotide variant owl:Class MONDO:0012685 biolink:NamedThing major affective disorder 5 tmpak2llvmy_mondo_relaxed.owl major affective disorder 5|MAFD5|MAJOR affective disorder 5|bipolar affective disorder OMIM:611535|MESH:C567074 owl:Class MONDO:0012370 biolink:NamedThing autosomal recessive nonsyndromic deafness 51 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. tmpak2llvmy_mondo_relaxed.owl DFNB51|autosomal recessive deafness 51|autosomal recessive nonsyndromic deafness type 51|deafness, autosomal recessive 51 DOID:0110508|ICD10:H90.3|GARD:0009918|OMIM:609941|MESH:C538202 owl:Class GO:0044042 biolink:NamedThing glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. tmpak2llvmy_mondo_relaxed.owl glucan metabolism owl:Class GO:0016868 biolink:NamedThing intramolecular transferase activity, phosphotransferases Catalysis of the transfer of a phosphate group from one position to another within a single molecule. tmpak2llvmy_mondo_relaxed.owl phosphomutase activity|phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers owl:Class HGNC:25538 biolink:NamedThing DARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019316 biolink:NamedThing maculopapular cutaneous mastocytosis Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. tmpak2llvmy_mondo_relaxed.owl urticaria pigmentosa/maculopapular cutaneous mastocytosis|Paucicellular mastocytosis|telangiectasia macularis eruptive perstans|UP/MPCM|urticaria pigmentosa|telangiectatic cutaneous mastocytosis GARD:0013079|SCTID:78745000|NCIT:C3433|UMLS:C0042111|Orphanet:79457|ICDO:9740/1|DOID:12309|MedDRA:10046752|ICD10:Q82.2|ICD9:708.8 owl:Class GO:0030104 biolink:NamedThing water homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. tmpak2llvmy_mondo_relaxed.owl regulation of osmotic pressure|osmoregulation owl:Class MONDO:0021024 biolink:NamedThing malaria, susceptibility to tmpak2llvmy_mondo_relaxed.owl malaria, Severe, resistance to|malaria, susceptibility to|malaria, cerebral, resistance to|malaria, Severe, susceptibility to|malaria, resistance to|malaria, cerebral, susceptibility to OMIM:611162 owl:Class MONDO:0023194 biolink:NamedThing frints de Smet Fabry Fryns syndrome tmpak2llvmy_mondo_relaxed.owl Symbrachydactyly of the hand and foot MESH:C538062|GARD:0001680 https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome owl:Class GO:0009127 biolink:NamedThing purine nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine nucleoside monophosphate formation|purine nucleoside monophosphate biosynthesis|purine nucleoside monophosphate synthesis|purine nucleoside monophosphate anabolism owl:Class MONDO:0030962 biolink:NamedThing nephrotic syndrome, type 23 tmpak2llvmy_mondo_relaxed.owl nephrotic syndrome, type 23|NPHS23 OMIM:619201 owl:Class MONDO:0010811 biolink:NamedThing benign prostatic hyperplasia A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. tmpak2llvmy_mondo_relaxed.owl benign prostatic hyperplasia (disease)|prostatic hyperplasia, benign|benign prostate hyperplasia|benign prostatic hyperplasia - BPH|prostate hypertrophy|BPH|benign hyperplasia of prostate|benign prostatic Hypertrophy|benign prostatic hypertrophy|benign hyperplasia of the prostate|benign prostatic hyperplasia|prostatic hypertrophy benign prostatic hyperplasia (disease) ICD9:600.20|SCTID:266569009|NCIT:C2897|EFO:0000284|MESH:D011470|OMIM:600082|HP:0008711|UMLS:C1704272|DOID:11132|ICD9:600|ICD9:600.0 MONDO:0001201 owl:Class MONDO:0001180 biolink:NamedThing bullous keratopathy Keratopathy that is characterized by the presence of epithelial bullae. tmpak2llvmy_mondo_relaxed.owl SCTID:57207003|UMLS:C0155111|NCIT:C26970|DOID:11031|ICD9:371.23|ICD10:H18.1 owl:Class HGNC:8621 biolink:NamedThing PAX7 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:2560547 biolink:NamedThing La Crosse orthobunyavirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019506 biolink:NamedThing obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. tmpak2llvmy_mondo_relaxed.owl Orphanet:88643|UMLS:CN227640|SCTID:722051004 owl:Class MONDO:0030929 biolink:NamedThing microcephaly 27, primary, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MCPH27|microcephaly 27, primary, autosomal dominant OMIM:619180 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class HP:0003584 biolink:NamedThing Late onset A type of adult onset with onset of symptoms after the age of 60 years. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025592 human_phenotype owl:Class MONDO:0022790 biolink:NamedThing cleft tongue tmpak2llvmy_mondo_relaxed.owl bifid tongue|cleft tongue syndrome GARD:0001395 https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue owl:Class NCBITaxon:2499398 biolink:NamedThing Arnidovirineae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0600025 biolink:NamedThing hydrosalpinx Fluid accumulation and dilatation of the fallopian tube due to tubal blockage. tmpak2llvmy_mondo_relaxed.owl fallopian tube obstruction|blocked fallopian tube NCIT:C142886 http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3249 owl:Class MONDO:0007467 biolink:NamedThing DNA, low-repetitive sequences of tmpak2llvmy_mondo_relaxed.owl repetitive sequence DNA|DNA, low-repetitive sequences of OMIM:126390 Editor note: TODO check owl:Class MONDO:0015422 biolink:NamedThing orofaciodigital syndrome type 13 Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. tmpak2llvmy_mondo_relaxed.owl oral facial digital syndrome 13|OFD syndrome 13|Degner syndrome|oral-facial-digital syndrome XIII|oral-facial-digital syndrome type 13|OFDS 13|oral-facial-digital syndrome 13|oral facial digital syndrome type 13|orofaciodigital syndrome XIII|orofaciodigital syndrome 13|OFD13 ICD10:Q87.0|MESH:C548035|GARD:0010694|SCTID:763835004|Orphanet:141330|UMLS:C2932680 owl:Class MONDO:0015382 biolink:NamedThing lower lip fistula A cysts and fistulae of the face and oral cavity that involves the lower lip. tmpak2llvmy_mondo_relaxed.owl cysts and fistulae of the face and oral cavity of lower lip|lower lip cysts and fistulae of the face and oral cavity ICD10:Q38.0|Orphanet:141064 owl:Class HGNC:25461 biolink:NamedThing PUS3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20914 biolink:NamedThing BLOC1S3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008169 biolink:NamedThing osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension tmpak2llvmy_mondo_relaxed.owl osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension MESH:C563478|OMIM:166990|UMLS:C1833688|GARD:0002277 owl:Class MONDO:0004078 biolink:NamedThing mucinous intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that produces abundant mucin. tmpak2llvmy_mondo_relaxed.owl mucinous intrahepatic cholangiocarcinoma|mucin-producing intrahepatic cholangiocarcinoma NCIT:C41618|UMLS:C1513718|DOID:7024 owl:Class MONDO:0018615 biolink:NamedThing hemicrania continua Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied. tmpak2llvmy_mondo_relaxed.owl SCTID:443095000|UMLS:CN237652|GARD:0010795|Orphanet:443070|ICD10:G44.51|UMLS:C2349425|ICD10:G44.0|ICD9:339.41 https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua owl:Class MONDO:0002551 biolink:NamedThing c-P angle neurinoma tmpak2llvmy_mondo_relaxed.owl cerebellopontine angle schwannoma|cerebellar Pontine angle neurinoma|cerebellopontine angle neurinoma NCIT:C5413|DOID:3199|UMLS:C1332905 owl:Class MONDO:0032598 biolink:NamedThing developmental and epileptic encephalopathy, 68 tmpak2llvmy_mondo_relaxed.owl EIEE68|epileptic encephalopathy, early infantile, 68|DEE68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 OMIM:618201 owl:Class MONDO:0018464 biolink:NamedThing severe phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. tmpak2llvmy_mondo_relaxed.owl severe PRPS1 superactivity|severe PRPP synthetase superactivity ICD10:E79.8|Orphanet:411543|UMLS:CN237444 owl:Class MONDO:0006524 biolink:NamedThing acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. tmpak2llvmy_mondo_relaxed.owl primary diffuse atrophy|Herxheimer disease DERMO:0002165|DOID:0060344|ICD10:L90.4|ICD9:701.8|UMLS:C0263421|EFO:1000665|SCTID:4340003 owl:Class MONDO:0006523 biolink:NamedThing acrodermatitis An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. tmpak2llvmy_mondo_relaxed.owl UMLS:C0001197|ICD9:686.8|MESH:D000169|SCTID:8197001|EFO:1000664|CSP:4008-0032|GARD:0005722|NCIT:C84532|DOID:2722 https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis owl:Class MONDO:0012054 biolink:NamedThing schizophrenia 12 A schizophrenia that has material basis in a mutation on chromosome 1p36.2. tmpak2llvmy_mondo_relaxed.owl Sczd12|schizophrenia type 12|schizophrenia susceptibility locus, chromosome 1P-related|SCZD12|schizophrenia 12 DOID:0070088|OMIM:608543|UMLS:C1837893 owl:Class MONDO:0007130 biolink:NamedThing congenital total pulmonary venous return anomaly Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. tmpak2llvmy_mondo_relaxed.owl TAPVR1|scimitar syndrome|scimitar anomaly|total anomalous pulmonary venous return|pulmonary venolobar syndrome|TAPVR|total anomalous pulmonary VENOUS return 1|anomalous pulmonary Venous return ICD9:747.41|Orphanet:99125|EFO:1001167|ICD10:Q26.2|SCTID:111323005|OMIM:106700|ICD10:Q26.8|DOID:4297|NCIT:C98585 owl:Class MONDO:0004255 biolink:NamedThing Wolffian adnexal tumor A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass. tmpak2llvmy_mondo_relaxed.owl WAT|Wolffian adnexal neoplasm|Wolffian adnexal tumor|Wolffian tumor|female adnexal tumor of probable Wolffian origin|Wolffian adenoma|FATWO MESH:C536741|DOID:7514|UMLS:C1520159|NCIT:C40141|GARD:0008680 owl:Class MONDO:0054836 biolink:NamedThing parkinsonism-dystonia, infantile, 2 tmpak2llvmy_mondo_relaxed.owl Parkinsonism-dystonia, infantile, 2|PKDYS2 UMLS:CN248785|OMIM:618049 owl:Class GO:0016798 biolink:NamedThing hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any glycosyl bond. tmpak2llvmy_mondo_relaxed.owl N-glycosylase|glycosylase|glycosidase activity owl:Class MONDO:0002252 biolink:NamedThing granulomatous hepatitis Hepatitis that is characterized by the presence of granulomas. tmpak2llvmy_mondo_relaxed.owl UMLS:C0235369|DOID:2239|NCIT:C27015|SCTID:86514004 owl:Class HGNC:11133 biolink:NamedThing SNAP29 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011886 biolink:NamedThing torsion dystonia 13 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. tmpak2llvmy_mondo_relaxed.owl torsion dystonia type 13|dystonia 13, torsion, autosomal dominant|primary dystonia with mixed phenotype|DYT13|primary torsion dystonia with predominant craniocervical or upper limb onset|primary dystonia, DYT13 type DOID:0090037|Orphanet:98807|OMIM:607671|MESH:C564354|SCTID:719278006|ICD10:G24.1 owl:Class MONDO:0015850 biolink:NamedThing transverse vaginal septum tmpak2llvmy_mondo_relaxed.owl HP:0000145|ICD10:Q52.1|Orphanet:180160|ICD10:Q52.11 owl:Class MONDO:0007274 biolink:NamedThing carpal displacement tmpak2llvmy_mondo_relaxed.owl carpal displacement|carpal bossing OMIM:115400|UMLS:C1861847 owl:Class HGNC:2847 biolink:NamedThing DGCR8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016848 biolink:NamedThing juvenile temporal arteritis Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. tmpak2llvmy_mondo_relaxed.owl JGCA|JPMR|juvenile polymyalgia rheumatica|juvenile cranial arteritis|non-giant cell granulomatous temporal arteritis with eosinophilia|juvenile giant cell arteritis|JTA Orphanet:26137|GARD:0003068|ICD10:L95.8|UMLS:C0751547|SCTID:722020006 https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis owl:Class MONDO:0007766 biolink:NamedThing Morgagni-Stewart-Morel syndrome Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant. tmpak2llvmy_mondo_relaxed.owl MSM syndrome|Morgagni-Stewart-Morel syndrome|hyperostosis frontalis interna|hyperostosis frontalis interna, obesity, shortness and cognitive impairment OMIM:144800|GARD:0008593|Orphanet:77296|ICD10:M85.2|NCIT:C84772|MESH:D006957|SCTID:82054006 https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome owl:Class MONDO:0009864 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, mitochondrial tmpak2llvmy_mondo_relaxed.owl PEPCK2|PEPCK2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|PEPCK 2 deficiency|PCK2 deficiency|phosphoenolpyruvate carboxykinase 2 deficiency Orphanet:79317|MESH:C564890|GARD:0004279|UMLS:C1849821|OMIM:261650 owl:Class MONDO:0030355 biolink:NamedThing facioscapulohumeral muscular dystrophy 4, digenic tmpak2llvmy_mondo_relaxed.owl FSHD4|facioscapulohumeral muscular dystrophy 4, digenic OMIM:619478 owl:Class MONDO:0015275 biolink:NamedThing partial atrioventricular canal Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea. tmpak2llvmy_mondo_relaxed.owl partial AVSD|partial atrioventricular canal defect|partial common atrioventricular canal|PAVC|partial atrioventricular septal defects GARD:0004229|MESH:C536112|SCTID:718216009|Orphanet:1330|ICD10:Q21.2 https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal owl:Class MONDO:0007497 biolink:NamedThing ear antitragus, tag at base of tmpak2llvmy_mondo_relaxed.owl ear antitragus, tag at base of OMIM:128290 owl:Class HGNC:4415 biolink:NamedThing GNMT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032785 biolink:NamedThing polydactyly, postaxial, type a10 tmpak2llvmy_mondo_relaxed.owl POLYDACTYLY, POSTAXIAL, TYPE A10|PAPA10 OMIM:618498 owl:Class MONDO:0016315 biolink:NamedThing mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. tmpak2llvmy_mondo_relaxed.owl mucopolysaccharidosis type 2, severe form|Hunter syndrome type A|mucopolysaccharidosis type IIA|mucopolysaccharidosis type II, severe form|iduronate 2-sulfatase deficiency type A|MPSIIA|mucopolysaccharidosis type 2A|MPS2A UMLS:CN201131|ICD10:E76.1|SCTID:73146005|Orphanet:217085 owl:Class MONDO:0011221 biolink:NamedThing Weyers ulnar ray/oligodactyly syndrome tmpak2llvmy_mondo_relaxed.owl Weyers ulnar ray/oligodactyly syndrome GARD:0010178|UMLS:C1865566|MESH:C536696|OMIM:602418 https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome owl:Class MONDO:0013109 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl leukemia, acute lymphocytic, susceptibility to, 2|ALL2|leukemia, acute lymphoblastic, susceptibility to, 2 OMIM:613067|UMLS:C2751593 owl:Class MONDO:0012163 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. tmpak2llvmy_mondo_relaxed.owl SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID UMLS:C1837028|MESH:C563822|ICD10:D81.2|DOID:0090014|OMIM:608971 Editor note: check relationship to sibs owl:Class MONDO:0001255 biolink:NamedThing ventilation pneumonitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. tmpak2llvmy_mondo_relaxed.owl Air-conditioner and humidifier lung|humidifier lung UMLS:C0155891|DOID:11289|ICD9:495.7|SCTID:195990006|ICD10:J67.7 owl:Class PATO:0001031 biolink:NamedThing elasticity A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001883 biolink:NamedThing blue toe syndrome A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. tmpak2llvmy_mondo_relaxed.owl DOID:14121|UMLS:C0242645|MESH:D018438 owl:Class MONDO:0020796 biolink:NamedThing Silver-Russell syndrome 1 tmpak2llvmy_mondo_relaxed.owl SRS1 OMIM:180860 owl:Class HGNC:6024 biolink:NamedThing IL7R tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8818 biolink:NamedThing SLC26A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012076 biolink:NamedThing midface hypoplasia, obesity, developmental delay, and neonatal hypotonia tmpak2llvmy_mondo_relaxed.owl midface hypoplasia, obesity, developmental delay, and neonatal hypotonia OMIM:608624|MESH:C563896|UMLS:C1837730 owl:Class HP:0002450 biolink:NamedThing Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. tmpak2llvmy_mondo_relaxed.owl Abnormal shape of motor neuron UMLS:C4025707 human_phenotype owl:Class MONDO:0018671 biolink:NamedThing IgG4-related kidney disease tmpak2llvmy_mondo_relaxed.owl Orphanet:449395|UMLS:CN237737|ICD10:N11.8 owl:Class HP:0002653 biolink:NamedThing Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. tmpak2llvmy_mondo_relaxed.owl Bone pain SNOMEDCT_US:12584003|UMLS:C0151825 human_phenotype owl:Class GO:0097205 biolink:NamedThing renal filtration A renal system process in which fluid circulating through the body is filtered through a barrier system. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015658 biolink:NamedThing cerebral diseases of vascular origin with epilepsy tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:166487|UMLS:CN200067 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: nervous system disorder' MONDO_0005071 owl:Class MONDO:0001953 biolink:NamedThing pyuria The presence of excessive white blood cells in the urine as determined by urinalysis. tmpak2llvmy_mondo_relaxed.owl pyuria|pyuria (disease)|pus cells in urine pyuria (disease) DOID:1439|MESH:D011776|HP:0012085 owl:Class MONDO:0003567 biolink:NamedThing bilateral hypoactive labyrinth tmpak2llvmy_mondo_relaxed.owl hypoactive bilateral labyrinthine dysfunction|hypoactive labyrinth, bilateral SCTID:194375009|UMLS:C0155518|ICD9:386.54|DOID:565 owl:Class MONDO:0013229 biolink:NamedThing hot water reflex epilepsy Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. tmpak2llvmy_mondo_relaxed.owl epilepsy, hot water|hot water epilepsy|bathing epilepsy|water immersion epilepsy ICD9:345.10|ICD10:G40.8|OMIMPS:613339|UMLS:CN200053|Orphanet:166412|UMLS:C0393729|SCTID:230454005 Editor note: TODO add ECTO owl:Class GO:0090368 biolink:NamedThing regulation of ornithine metabolic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018317 biolink:NamedThing growth retardation-mild developmental delay-chronic hepatitis syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN204964|Orphanet:391366 owl:Class MONDO:0043183 biolink:NamedThing podder-tolmie syndrome tmpak2llvmy_mondo_relaxed.owl meningoencephalocele, arthrogryposis and hypoplastic thumbs MESH:C537518|UMLS:C2931519|GARD:0004387 owl:Class MONDO:0011124 biolink:NamedThing spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD OMIM:601668|ICD10:Q77.7|MESH:C566644|UMLS:C1866507|Orphanet:168451 owl:Class MONDO:0012668 biolink:NamedThing Tented eyebrows tmpak2llvmy_mondo_relaxed.owl Tented eyebrows OMIM:611426 owl:Class MONDO:0002535 biolink:NamedThing verrucous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance. tmpak2llvmy_mondo_relaxed.owl UMLS:C0334243|NCIT:C4101|ICDO:8051/0|DOID:3177 owl:Class HGNC:21504 biolink:NamedThing PRY2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007261 biolink:NamedThing Carabelli anomaly of maxillary molar teeth tmpak2llvmy_mondo_relaxed.owl Carabelli anomaly of maxillary molar teeth OMIM:114700|UMLS:C1861897|MESH:C566175 owl:Class MONDO:0002461 biolink:NamedThing membranoproliferative glomerulonephritis Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. tmpak2llvmy_mondo_relaxed.owl membranoproliferative glomerulonephritis (disease)|membranoproliferative glomerulonephritis|chronic glomerulonephritis, lobular|lobular glomerulonephritis membranoproliferative glomerulonephritis (disease) HP:0000793|DOID:2920 owl:Class MONDO:0010352 biolink:NamedThing intellectual disability, X-linked 82 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 82|MRX82|intellectual disability, X-linked 82 MESH:C564496|UMLS:C1845286|OMIM:300518 owl:Class NCBITaxon:135625 biolink:NamedThing Pasteurellales tmpak2llvmy_mondo_relaxed.owl Pasteruellaceae group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0022067 biolink:NamedThing Cantu sanchez-corona fragoso syndrome tmpak2llvmy_mondo_relaxed.owl severe mental deficiency proportionate dwarfism and delayed sexual maturation|severe mental deficiency, proportionate dwarfism, and delayed sexual maturation UMLS:C2930937|GARD:0001081|MESH:C535571 https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome owl:Class MONDO:0022602 biolink:NamedThing brachydactyly small stature face anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0000974 https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies owl:Class MONDO:0017803 biolink:NamedThing primary progressive apraxia of speech tmpak2llvmy_mondo_relaxed.owl PPAOS Orphanet:314566|UMLS:CN203766 owl:Class GO:0150063 biolink:NamedThing visual system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. tmpak2llvmy_mondo_relaxed.owl optic pathway development|visual pathway development owl:Class GO:0048880 biolink:NamedThing sensory system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009381 biolink:NamedThing hyperbilirubinemia, conjugated, type 3 tmpak2llvmy_mondo_relaxed.owl hyperbilirubinemia, conjugated, type III UMLS:C0400964|OMIM:237550|MESH:C562885|SCTID:235906009 owl:Class MONDO:0009592 biolink:NamedThing metaphyseal acroscyphodysplasia Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. tmpak2llvmy_mondo_relaxed.owl Bellini syndrome|wedge-shaped epiphyses of the knees with intellectual disability and short stature|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|wedge-shaped epiphyses of knees|cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|metaphyseal acroscyphodysplasia|Bellini Chiumello Rimoldi syndrome|wedge-Shaped epiphyses of knees|wedge-shaped epiphyses of the knees with mental retardation and short stature Orphanet:1240|ICD10:Q78.5|GARD:0003519|MESH:C537350|UMLS:C1855243|OMIM:250215 https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia owl:Class MONDO:0017116 biolink:NamedThing congenital communicating hydrocephalus tmpak2llvmy_mondo_relaxed.owl congenital non-obstructive hydrocephalus ICD10:Q03.8|Orphanet:269505 owl:Class MONDO:0022778 biolink:NamedThing cleft lip palate intellectual disability corneal opacity tmpak2llvmy_mondo_relaxed.owl GARD:0001380 https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity owl:Class MONDO:0000684 biolink:NamedThing verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. tmpak2llvmy_mondo_relaxed.owl DOID:0060154 owl:Class MONDO:0007047 biolink:NamedThing punctate palmoplantar keratoderma type III Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later tmpak2llvmy_mondo_relaxed.owl acrokeratoelastoidosis of Costa|acrokeratoelastoidosis|TIA|punctate palmoplantar keratoderma type 3|punctate palmoplantar hyperkeratosis type 3|ake|collagenous plaques of hands and feet|NTIA|collagenous plaques of hand and feet|rare form of Hirschsprung's disease|palmoplantar keratoderma, punctate type III|aganglionosis, total colonic|near-total intestinal aganglionosis|palmoplantar keratoderma, punctate type 3|PPKP3 UMLS:C0545044|ICD10:Q82.8|OMIM:101850|Orphanet:38|DOID:0060362|MESH:C535653|GARD:0000133|GARD:0000125|EFO:1000758 Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 owl:Class MONDO:0011653 biolink:NamedThing thyroid cancer, nonmedullary, 3 tmpak2llvmy_mondo_relaxed.owl thyroid cancer, nonmedullary, 3|thyroid cancer, nonmedullary, 1, formerly|thyroid cancer, nonmedullary, 1|NMTC3 UMLS:C1853488|OMIM:606240 owl:Class CHEBI:36688 biolink:NamedThing heterotricyclic compound tmpak2llvmy_mondo_relaxed.owl heterotricyclic compound|heterotricyclic compounds owl:Class MONDO:0010055 biolink:NamedThing spinal muscular atrophy with microcephaly and mental subnormality tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy with microcephaly and mental subnormality MESH:C564806|UMLS:C1849108|OMIM:271110 owl:Class GO:0005761 biolink:NamedThing mitochondrial ribosome A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. tmpak2llvmy_mondo_relaxed.owl 55S ribosome, mitochondrial owl:Class MONDO:0002717 biolink:NamedThing spinal cord intramedullary teratoma tmpak2llvmy_mondo_relaxed.owl intramedullary spinal teratoma|intramedullary teratoma of spinal cord|intramedullary teratoma of the spinal cord|intramedullary spinal cord teratoma NCIT:C5428|DOID:3639|UMLS:C1334259 owl:Class MONDO:0020555 biolink:NamedThing pleuropulmonary blastoma type 1 A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. tmpak2llvmy_mondo_relaxed.owl type I pleuropulmonary blastoma SCTID:707671008|ICD10:C34.9|ICD10:C34.3|ICD10:C34.1|UMLS:CN207457|ICD10:C34.2|Orphanet:99933|ICD10:C34.8|ICD9:162.9|NCIT:C45626 owl:Class MONDO:0012090 biolink:NamedThing autosomal dominant nonsyndromic deafness 47 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 47|autosomal dominant nonsyndromic deafness type 47|deafness, autosomal dominant 47|DFNA47 UMLS:C1837609|MESH:C563885|OMIM:608652|ICD10:H90.3|DOID:0110570 owl:Class MONDO:0013513 biolink:NamedThing atrial fibrillation, familial, 9 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene. tmpak2llvmy_mondo_relaxed.owl familial atrial fibrillation caused by mutation in KCNJ2|ATFB9|atrial fibrillation, familial, 9|atrial fibrillation, familial, type 9|KCNJ2 familial atrial fibrillation OMIM:613980|UMLS:C3151431 owl:Class HGNC:9382 biolink:NamedThing PRKACG tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010522 biolink:NamedThing X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta 3 hypoplastic type|AIH3 (formerly)|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|X-linked enamel hypoplasia|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|amelogenesis imperfecta 3, hypoplastic type, formerly|enamel hypoplasia, X-linked|amelogenesis imperfecta type IE X-linked 2|amelogenesis imperfecta 3, hypoplastic type|AIH3|amelogenesis imperfecta 3, hypoplastic type (formerly) GARD:0009944|ICD10:K00.5|DOID:0110059|OMIM:301201|UMLS:C1845051 owl:Class MONDO:0005751 biolink:NamedThing epidemic pleurodynia An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. tmpak2llvmy_mondo_relaxed.owl Bamble disease|epidemic pleurisy|devil's grip|Bornholm disease|epidemic myalgia|epidemic, myositis EFO:0007259|ICD9:074.1|SCTID:83264000|ICD10:B33.0|UMLS:C0032238|DOID:10882|MESH:D011000 owl:Class MONDO:0022825 biolink:NamedThing congenital cystic eye tmpak2llvmy_mondo_relaxed.owl CCE Orphanet:519384|GARD:0010617 https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye owl:Class MONDO:0017473 biolink:NamedThing patella aplasia/hypoplasia, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295041 owl:Class HGNC:25640 biolink:NamedThing UFSP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:19 biolink:NamedThing AANAT tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10540 biolink:NamedThing SAT1 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000670 biolink:NamedThing primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. tmpak2llvmy_mondo_relaxed.owl primitive germ cell|gonocyte FMA:70567 cell owl:Class MONDO:0019478 biolink:NamedThing adult nodular lymphocyte predominant Hodgkin lymphoma A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult nodular lymphocyte predominant Hodgkin's lymphoma|nodular lymphocyte predominant Hodgkin lymphoma|adult NLPHD|adult nodular lymphocyte predominant Hodgkin's disease UMLS:C1332210|MEDGEN:231044|NCIT:C7942 owl:Class MONDO:0010250 biolink:NamedThing intellectual disability, X-linked 49 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 15|intellectual disability, X-linked 15|intellectual disability, X-linked 49|MRX49|mental retardation, X-linked 49 OMIM:300114 owl:Class UBERON:0012252 biolink:NamedThing endocervical epithelium The glandular epithelium that lines the endocervix. tmpak2llvmy_mondo_relaxed.owl endocervical glandular epithelium owl:Class MONDO:0030055 biolink:NamedThing sorbitol dehydrogenase deficiency with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl SORDD|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY|sorbitol dehydrogenase deficiency with peripheral neuropathy|Sorbitol Dehydrogenase Deficiency OMIM:618912 owl:Class MONDO:0007214 biolink:NamedThing brachydactyly-preaxial hallux varus syndrome Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. tmpak2llvmy_mondo_relaxed.owl dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly preaxial with hallux varus and thumb abduction|Christian brachydactyly|preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction MESH:C537087|GARD:0000972|OMIM:112450|Orphanet:1278|DOID:0110962|UMLS:C1862162|ICD10:Q73.8 owl:Class MONDO:0014833 biolink:NamedThing heart and brain malformation syndrome tmpak2llvmy_mondo_relaxed.owl heart and brain malformation syndrome; HBMS|HBMS|heart and brain malformation syndrome OMIM:616920|UMLS:C4310793 owl:Class MONDO:0016707 biolink:NamedThing astroblastoma Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. tmpak2llvmy_mondo_relaxed.owl cerebral astroblastoma|astroblastoma|astroblastoma (morphologic abnormality)|AstB GARD:0010635|ICDO:9430/3|ICD10:C71.9|ONCOTREE:ASTB|DOID:7305|UMLS:C0334587|Orphanet:251679|NCIT:C4324 https://rarediseases.info.nih.gov/diseases/10635/astroblastoma owl:Class MONDO:0016704 biolink:NamedThing glial tumor of neuroepithelial tissue with unknown origin tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:251668|UMLS:CN201948 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glioma MONDO_0021042 owl:Class MONDO:0009957 biolink:NamedThing Reese retinal dysplasia tmpak2llvmy_mondo_relaxed.owl Reese retinal dysplasia MESH:C564854|UMLS:C1849450|GARD:0010566|OMIM:266400 https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia owl:Class UBERON:0005437 biolink:NamedThing conus medullaris The conus medullaris is the terminal end of the spinal cord. It occurs near lumbar vertebral levels 1 (L1) and 2 (L2). After the spinal cord tapers out, the spinal nerves continue as dangling nerve roots called cauda equina. This terminal nerve root tail is referred to as the filum terminale. The upper end of the conus medullaris is usually not well defined. tmpak2llvmy_mondo_relaxed.owl medullary cone|termination of the spinal cord owl:Class MONDO:0042603 biolink:NamedThing Sanderson-Fraser syndrome tmpak2llvmy_mondo_relaxed.owl Sanderson Fraser syndrome|proptosis, Robin association, clenched hands, and multiple abnormalities GARD:0000153|MESH:C537232|UMLS:C2931450 owl:Class MONDO:0015230 biolink:NamedThing anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl Cassia Stocco dos Santos syndrome|anophthalmia megalocornea cardiopathy skeletal anomalies SCTID:720495005|Orphanet:1101|UMLS:CN197570|GARD:0000717|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies owl:Class MONDO:0001239 biolink:NamedThing anemia of prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. tmpak2llvmy_mondo_relaxed.owl AOP NCIT:C97167|ICD10:P61.2|UMLS:C0158996|SCTID:47100003|DOID:11243|ICD9:776.6 owl:Class NCBITaxon:51027 biolink:NamedThing Enterobius tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:29605 biolink:NamedThing SH2B3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024568 biolink:NamedThing infantile liver failure syndrome 1 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. tmpak2llvmy_mondo_relaxed.owl Lars infantile liver failure|acute infantile liver failure - multisystemic involvement syndrome|ILFS1|infantile liver failure caused by mutation in Lars|infantile liver failure syndrome type 1|LARS infantile liver failure|infantile liver failure syndrome 1|infantile liver failure caused by mutation in LARS Orphanet:370088|ICD10:K72.0|GARD:0013114|OMIM:615438|UMLS:C3809522 MONDO:0014188 owl:Class CHEBI:51374 biolink:NamedThing GABA agent A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024529 biolink:NamedThing MVP1 tmpak2llvmy_mondo_relaxed.owl mitral valve prolapse, myxomatous 1|myxomatous mitral valve prolapse 1|mitral valve prolapse 1|prolapsed mitral valve|MVP1|barlow syndrome|mitral valve prolapse, familial|mitral regurgitation, familial|click-murmur syndrome|floppy mitral valve|PMV|mitral valve prolapse, familial, X-linked|myxomatous valvular disease, familial UMLS:CN074267|OMIM:157700|GARD:0003688 owl:Class MONDO:0019405 biolink:NamedThing facial onset sensory and motor neuronopathy Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. tmpak2llvmy_mondo_relaxed.owl facial onset sensorimotor neuronopathy syndrome|FOSMN syndrome|facial onset sensory and motor neuronopathy syndrome SCTID:723306004|GARD:0012036|UMLS:CN206118|Orphanet:85162|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy owl:Class MONDO:0005932 biolink:NamedThing pseudorabies A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. tmpak2llvmy_mondo_relaxed.owl EFO:0007457|UMLS:C0033839|MESH:D011557 owl:Class NCBITaxon:2499399 biolink:NamedThing Cornidovirineae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016535 biolink:NamedThing white matter of occipital lobe A white matter of cerebral lobe that is part of a occipital lobe. tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016860 biolink:NamedThing intramolecular oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. tmpak2llvmy_mondo_relaxed.owl intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases owl:Class MONDO:0004128 biolink:NamedThing lung occult large cell carcinoma A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpak2llvmy_mondo_relaxed.owl occult large cell lung carcinoma|occult large cell carcinoma of lung|occult large cell carcinoma of the lung NCIT:C6685|UMLS:C1335095|DOID:7169 owl:Class MONDO:0032659 biolink:NamedThing mucocutaneous ulceration, chronic tmpak2llvmy_mondo_relaxed.owl CMCU|MUCOCUTANEOUS ULCERATION, CHRONIC OMIM:618287 owl:Class NCBITaxon:58839 biolink:NamedThing Encephalitozoon intestinalis tmpak2llvmy_mondo_relaxed.owl Septata intestinalis GC_ID:1 NCBITaxon:27986 ncbi_taxonomy owl:Class GO:0071496 biolink:NamedThing cellular response to external stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007802 biolink:NamedThing hypospadias 3, autosomal tmpak2llvmy_mondo_relaxed.owl HYSP3|hypospadias 3, autosomal OMIM:146450|MESH:C567191|UMLS:C2675154 owl:Class GO:0002208 biolink:NamedThing somatic diversification of immunoglobulins involved in immune response The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. tmpak2llvmy_mondo_relaxed.owl somatic diversification of antibodies during immune response|somatic diversification of immunoglobulins during immune response owl:Class MONDO:0004531 biolink:NamedThing sclerosing adenosis of breast Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. tmpak2llvmy_mondo_relaxed.owl breast sclerosing adenosis|sclerosing adenosis|sclerosing adenosis of the breast|sclerosing breast adenosis NCIT:C5205|UMLS:C1335931|DOID:8310|SCTID:105261000119101 owl:Class MONDO:0003447 biolink:NamedThing clear cell hidradenoma An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. tmpak2llvmy_mondo_relaxed.owl clear cell hidradenoma|clear cell myoepithelioma|clear cell hidradenoma (morphologic abnormality) UMLS:C1370701|DOID:5443|NCIT:C7567 owl:Class MONDO:0016773 biolink:NamedThing atrophic lichen planus Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. tmpak2llvmy_mondo_relaxed.owl atrophic LP Orphanet:254449|GARD:0012675|ICD10:L43.8|MedDRA:10056959|NCIT:C34777|UMLS:C0023647|SCTID:25858008 https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus owl:Class MONDO:0001523 biolink:NamedThing luxation of globe tmpak2llvmy_mondo_relaxed.owl luxation of eye SCTID:20842008|DOID:1241|ICD9:360.81|ICD10:H44.82|UMLS:C0154806 owl:Class NCBITaxon:41165 biolink:NamedThing Schizopyrenida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007869 biolink:NamedThing Kyrle disease Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. tmpak2llvmy_mondo_relaxed.owl Kyrle disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle's disease UMLS:C0263382|OMIM:149500|GARD:0009738|MESH:C538130|SCTID:34042008 https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease owl:Class HGNC:7490 biolink:NamedThing MT-TL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012663 biolink:NamedThing Plasmodium falciparum fever episodes quantitative trait locus 1 tmpak2llvmy_mondo_relaxed.owl Plasmodium falciparum fever episodes quantitative trait locus 1|Pffe1|malaria fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus type 1 OMIM:611384 Editor note consider obsoleting owl:Class MONDO:0011548 biolink:NamedThing cerebral palsy, ataxic, autosomal recessive tmpak2llvmy_mondo_relaxed.owl cerebral palsy, ataxic, autosomal recessive|cerebral palsy ataxic|Acp|ataxic cerebral palsy ICD9:343.8|GARD:0010451|OMIM:605388 https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic owl:Class HP:0003241 biolink:NamedThing External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. tmpak2llvmy_mondo_relaxed.owl Underdevelopment of external reproductive organs|Hypogenitalism|Small genitalia UMLS:C1855333 Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. HP:0000788|HP:0003245 human_phenotype owl:Class HP:0000811 biolink:NamedThing Abnormal external genitalia tmpak2llvmy_mondo_relaxed.owl Abnormal external genitalia UMLS:C4025825 human_phenotype owl:Class MONDO:0002788 biolink:NamedThing papillary craniopharyngioma A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl papillary Rathke's pouch neoplasm|papillary Rathke pouch neoplasm|papillary craniopharyngioma (morphologic abnormality)|craniopharyngioma, papillary (morphologic abnormality)|papillary Rathke's pouch tumor|craniopharyngioma, papillary|papillary tumor of Rathke's pouch|papillary neoplasm of Rathke's pouch EFO:1000447|DOID:3847|ICDO:9352/1|UMLS:C0431128|NCIT:C4725 owl:Class MONDO:0005366 biolink:NamedThing chronic hepatitis B virus infection Chronic form of hepatitis B infection. tmpak2llvmy_mondo_relaxed.owl hepatitis B, chronic|chronic Hepatitis B|hepatitis B infection, chronic UMLS:C0524909|MESH:D019694|EFO:0004239 owl:Class MONDO:0015597 biolink:NamedThing pustulosis palmaris et plantaris tmpak2llvmy_mondo_relaxed.owl LPP|acropustulosis|PPP|pustular psoriasis of the palms and/or soles|localized pustular psoriasis|palmoplantar pustulosis|pustulosis of palm and sole NCIT:C34888|GARD:0012820|SCTID:81271001|Orphanet:163927|ICD10:L40.3|MedDRA:10050185|SCTID:27520001|DOID:4398|ICD9:696.1 owl:Class MONDO:0007229 biolink:NamedThing Brachymetatarsus 4 tmpak2llvmy_mondo_relaxed.owl metatarsus IV, short|Brachymetatarsus type 4|BRACHYMETATARSUS IV|toe, fourth, short OMIM:113475 owl:Class MONDO:0011566 biolink:NamedThing abdominal obesity-metabolic syndrome quantitative trait locus 2 tmpak2llvmy_mondo_relaxed.owl abdominal obesity-metabolic syndrome quantitative trait locus 2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|Aoms2 OMIM:605572 owl:Class HGNC:6764 biolink:NamedThing MAD2L2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009225 biolink:NamedThing fever, familial lifelong persistent tmpak2llvmy_mondo_relaxed.owl fever, familial lifelong persistent OMIM:228400|UMLS:C1856788|MESH:C565569 owl:Class MONDO:0011564 biolink:NamedThing cone-rod dystrophy 8 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 8|cone-rod dystrophy 8|CORD8 MESH:C565322|DOID:0111014|UMLS:C1854180|OMIM:605549 owl:Class MONDO:0010870 biolink:NamedThing tibial muscular dystrophy Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. tmpak2llvmy_mondo_relaxed.owl tardive tibial muscular dystrophy|tibial muscular dystrophy, tardive|distal myopathy, Udd type|distal titinopathy|Tmd|TMD|Udd myopathy|Finnish tibial muscular dystrophy|Udd type distal myopathy UMLS:C1450052|OMIM:600334|ICD10:G71.0|Orphanet:609|SCTID:698846009|UMLS:C1838244|DOID:0111078 owl:Class MONDO:0006251 biolink:NamedThing inclusion body fibromatosis A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions. tmpak2llvmy_mondo_relaxed.owl Reye's tumor|inclusion body fibromatosis|digital fibrous tumor of Reye|infantile digital fibromatosis|inclusion body fibromatosis (disease)|infantile digital fibroma/fibromatosis|Reye tumor inclusion body fibromatosis (disease) HP:0025197|NCIT:C3456|EFO:1000301 owl:Class MONDO:0004530 biolink:NamedThing early invasive cervical adenocarcinoma A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. tmpak2llvmy_mondo_relaxed.owl cervical microinvasive adenocarcinoma NCIT:C36096|DOID:8307|UMLS:C1333369 owl:Class MONDO:0008217 biolink:NamedThing pelvis-shoulder dysplasia Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. tmpak2llvmy_mondo_relaxed.owl Kosenow syndrome|pelvis-shoulder dysplasia|Scapuloiliac dysostosis ICD10:Q87.5|MESH:C566811|SCTID:719298001|Orphanet:2839|UMLS:C1868508|OMIM:169550 owl:Class MONDO:0005198 biolink:NamedThing vulvar intraepithelial neoplasia Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type. tmpak2llvmy_mondo_relaxed.owl vulva intraepithelial neoplasia|squamous vulvar intraepithelial neoplasia|vulval intraepithelial neoplasia|intraepithelial neoplasia of vulva|VIN|vulvar intraepithelial tumor|intraepithelial neoplasia of the vulva UMLS:C0346210|NCIT:C4756|ICD10:D07.1|EFO:0002627|Orphanet:137583 owl:Class MONDO:0043783 biolink:NamedThing sclerema neonatorum A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. tmpak2llvmy_mondo_relaxed.owl underwood's disease|sclerema adiposum|sclerema neonatorum SCTID:206539008|NCIT:C35009|MESH:D012593 owl:Class MONDO:0001916 biolink:NamedThing gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. tmpak2llvmy_mondo_relaxed.owl enteric tularemia|intestinal tularaemia ICD9:021.8|ICD9:021.1|DOID:14239|ICD10:A21.3 owl:Class MONDO:0013611 biolink:NamedThing retinitis pigmentosa 62 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene. tmpak2llvmy_mondo_relaxed.owl MAK retinitis pigmentosa|retinitis pigmentosa type 62|retinitis pigmentosa caused by mutation in MAK|RP62|retinitis pigmentosa 62 OMIM:614181|UMLS:C3280042|DOID:0110380|ICD10:H35.5 owl:Class MONDO:0032596 biolink:NamedThing myasthenic syndrome, congenital, 23, presynaptic tmpak2llvmy_mondo_relaxed.owl CMS23|MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM:618197 owl:Class HGNC:18806 biolink:NamedThing CAMTA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011167 biolink:NamedThing type 1 diabetes mellitus 6 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. tmpak2llvmy_mondo_relaxed.owl insulin-dependent diabetes mellitus 6|autoimmune thyroid disease, susceptibility to, 5|IDDM6|diabetes mellitus, insulin-dependent, 6 UMLS:C1866041|MESH:C566603|OMIM:601941|DOID:0110745|ICD10:E10 owl:Class MONDO:0044314 biolink:NamedThing retinitis pigmentosa 78 tmpak2llvmy_mondo_relaxed.owl RP78|retinitis pigmentosa 78 UMLS:C4479481|OMIM:617433 owl:Class MONDO:0011297 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 2 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24. tmpak2llvmy_mondo_relaxed.owl ENFL2|autosomal dominant nocturnal frontal lobe epilepsy type 2|epilepsy, nocturnal frontal lobe, 2|nocturnal frontal lobe epilepsy 2 DOID:0060683|UMLS:C1864125|MESH:C566400|OMIM:603204 owl:Class CL:0002679 biolink:NamedThing natural helper lymphocyte A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13 tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-08-29T10:08:02Z cell owl:Class MONDO:0002894 biolink:NamedThing spinal chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpak2llvmy_mondo_relaxed.owl spinal column chordoma|chordoma of the spinal column|chordoma of spinal column|chordoma of spine|spinal chordoma|spinal Chordomas NCIT:C5156|DOID:4153|UMLS:C1859101|EFO:1000543 owl:Class MONDO:0004280 biolink:NamedThing asymmetric motor neuropathy tmpak2llvmy_mondo_relaxed.owl UMLS:C1332341|NCIT:C27953|DOID:7559 owl:Class HGNC:738 biolink:NamedThing ASCL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002104 biolink:NamedThing conversion disorder Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. tmpak2llvmy_mondo_relaxed.owl conversion hysteria or reaction|functional movement disorder|conversion hysterical neurosis|functional neurological disorder|hysterical neurosis, conversion type|FND GARD:0006191|MESH:D003291|ICD10:F44|ICD9:300.11|DOID:1768 https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder owl:Class MONDO:0010084 biolink:NamedThing sucrosuria, hiatus hernia and intellectual disability tmpak2llvmy_mondo_relaxed.owl sucrosuria, hiatus hernia and mental retardation|sucrosuria, hiatus hernia and intellectual disability MESH:C564792|OMIM:272000|UMLS:C1848963 owl:Class NCBITaxon:1351 biolink:NamedThing Enterococcus faecalis tmpak2llvmy_mondo_relaxed.owl Micrococcus zymogenes|Streptococcus liquefaciens|Streptococcus faecalis|Micrococcus ovalis|Enterococcus proteiformis|Enterocoque|Streptococcus glycerinaceus GC_ID:11 NCBITaxon:1796631|NCBITaxon:657310|NCBITaxon:1219670 ncbi_taxonomy owl:Class NCBITaxon:1350 biolink:NamedThing Enterococcus tmpak2llvmy_mondo_relaxed.owl PMID:9103648|PMID:8427810|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008868 biolink:NamedThing biliary malformation with renal tubular insufficiency tmpak2llvmy_mondo_relaxed.owl cholestatic jaundice and renal tubular insufficiency|biliary malformation with renal tubular insufficiency SCTID:235914003|MESH:C537726|UMLS:C0400972|OMIM:210550 owl:Class HGNC:10798 biolink:NamedThing SFTPA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0040872 biolink:NamedThing non-psychogenic polydipsia A form of primary polydipsia not caused by underlying psychiatric symptoms. tmpak2llvmy_mondo_relaxed.owl idiopathic polydipsia owl:Class MONDO:0012459 biolink:NamedThing hypertension, essential, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, 6|Hyt6|hypertension, essential, susceptibility to, type 6|hypertension, essential, kidney function-related OMIM:610262 owl:Class NCBITaxon:71274 biolink:NamedThing asterids tmpak2llvmy_mondo_relaxed.owl Asteridae PMID:12144762|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007735 biolink:NamedThing congenital Horner syndrome Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. tmpak2llvmy_mondo_relaxed.owl HORNER syndrome, congenital|congenital Claude-Bernard-Horner syndrome|congenital Horner syndrome|congenital Horner syndrome (disease) congenital Horner syndrome (disease) ICD10:G90.2|HP:0006837|MESH:C564178|Orphanet:91413|UMLS:C1840475|OMIM:143000 owl:Class MONDO:0032885 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor-Toutain type tmpak2llvmy_mondo_relaxed.owl SEMDIST|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE OMIM:618728 owl:Class MONDO:0033636 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 4 tmpak2llvmy_mondo_relaxed.owl MC4DN4 OMIM:619048 owl:Class MONDO:0004387 biolink:NamedThing luteoma of pregnancy A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. tmpak2llvmy_mondo_relaxed.owl leuteoma of pregnancy|luteoma MESH:D018311|DOID:7880|UMLS:C0024167|UMLS:C1517842|NCIT:C40445 owl:Class MONDO:0015994 biolink:NamedThing muscular dystrophy-white matter spongiosis syndrome tmpak2llvmy_mondo_relaxed.owl Atrophie blanche|muscular dystrophy white matter spongiosis Orphanet:1877|GARD:0003854|UMLS:CN200619|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis owl:Class MONDO:0022734 biolink:NamedThing chorioretinopathy dominant form microcephaly tmpak2llvmy_mondo_relaxed.owl GARD:0001308 https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly owl:Class MONDO:0006066 biolink:NamedThing acinar prostate adenocarcinoma, foamy gland variant A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm. tmpak2llvmy_mondo_relaxed.owl UMLS:C1515863|NCIT:C39882|EFO:1000064 owl:Class GO:0007622 biolink:NamedThing rhythmic behavior The specific behavior of an organism that recur with measured regularity. tmpak2llvmy_mondo_relaxed.owl rhythmic behaviour|rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus owl:Class MONDO:0004243 biolink:NamedThing vulvar proximal-type epithelioid sarcoma An epithelioid sarcoma of the proximal type involving the vulva. tmpak2llvmy_mondo_relaxed.owl UMLS:C1520093|DOID:7491|NCIT:C40319 owl:Class MONDO:0026732 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 9 tmpak2llvmy_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9|CHNG9 OMIM:301035 owl:Class MONDO:0010664 biolink:NamedThing syndromic X-linked intellectual disability Snyder type Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. tmpak2llvmy_mondo_relaxed.owl SRS|intellectual disability, X-linked, syndromic, Snyder-Robinson type|syndromic X-linked intellectual disability Snyder type|spermine synthase deficiency|MRXSSR|X-linked intellectual disability Snyder-Robinson type|intellectual disability, X-linked, Snyder-Robinson type|X-linked intellectual disability, Snyder type|Snyder-Robinson intellectual disability syndrome|mental retardation, X-linked, syndromic, Snyder-Robinson type|X-linked mental retardation Snyder-Robinson type|Snyder-Robinson mental retardation syndrome|Snyder-Robinson syndrome|mental retardation, X-linked, Snyder-Robinson type SCTID:702416008|UMLS:C0796160|Orphanet:3063|GARD:0005615|ICD9:758.89|OMIM:309583|MESH:C536678|DOID:0060802|ICD10:Q87.8 owl:Class MONDO:0002440 biolink:NamedThing erythropoietin polycythemia Polycythemia that is caused by excess erythropoietin. tmpak2llvmy_mondo_relaxed.owl secondary polycythemia with excess erythropoietin|polycythemia due to excess erythopoetin production|polycythemia, nephrogenous|nephrogenous polycythemia|polycythaemia due to Excess erythropoetin production NCIT:C35434|UMLS:C0391869|ICD10:D75.1|SCTID:367328005|DOID:2839 owl:Class MONDO:0015102 biolink:NamedThing non-secreting chemodectoma tmpak2llvmy_mondo_relaxed.owl non-functioning chemodectoma|non-secreting chemodectoma Orphanet:101106 owl:Class ENVO:01001501 biolink:NamedThing radiation from a manufactured product An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product. tmpak2llvmy_mondo_relaxed.owl artificial radiation|anthropogenic radiation owl:Class MONDO:0400003 biolink:NamedThing skeletal fluorosis A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. tmpak2llvmy_mondo_relaxed.owl fluorosis of the skeleton http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0023140 biolink:NamedThing fenton Wilkinson Toselano syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002287 https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome owl:Class HGNC:14409 biolink:NamedThing SLC25A19 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000752 biolink:NamedThing Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. tmpak2llvmy_mondo_relaxed.owl Hyperactive behaviour|More active than typical|Hyperactive behavior MSH:D006948|UMLS:C0424295|SNOMEDCT_US:44548000 HP:0008764 human_phenotype owl:Class MONDO:0012042 biolink:NamedThing hirschsprung disease, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 8|HSCR8 OMIM:608462 owl:Class MONDO:0004718 biolink:NamedThing xeroderma of eyelid tmpak2llvmy_mondo_relaxed.owl SCTID:55846006|UMLS:C0155179|ICD10:H01.14|ICD9:373.33|DOID:9140 owl:Class MONDO:0019367 biolink:NamedThing regional odontodysplasia Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. tmpak2llvmy_mondo_relaxed.owl ghost teeth SCTID:66063001|MESH:D018126|Orphanet:83450|ICD10:K00.4 owl:Class HP:0100000 biolink:NamedThing Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. tmpak2llvmy_mondo_relaxed.owl Early onset of sexual maturation UMLS:C4022392 doelkens 2010-05-04T10:35:02Z human_phenotype owl:Class MONDO:0030026 biolink:NamedThing retinal dystrophy with leukodystrophy tmpak2llvmy_mondo_relaxed.owl retinal dystrophy with leukodystrophy|RETINAL DYSTROPHY WITH LEUKODYSTROPHY|RDLKD OMIM:618863 owl:Class MONDO:0016258 biolink:NamedThing uterine corpus carcinofibroma An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component. tmpak2llvmy_mondo_relaxed.owl uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri ICD10:C54.8|ICD10:C54.0|UMLS:C1883485|ICD10:C54.2|ICDO:8934/3|NCIT:C40182|Orphanet:213605|ICD10:C54.1|ICD10:C54.3 owl:Class MONDO:0011649 biolink:NamedThing AVSD 1 tmpak2llvmy_mondo_relaxed.owl atrioventricular septal defect|AVSD|endocardial cushion defect|atrioventricular septal defect, susceptibility to, 1|atrioventricular canal defect|AVC defect OMIM:606215 owl:Class MONDO:0025459 biolink:NamedThing rinderpest A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. tmpak2llvmy_mondo_relaxed.owl plague, cattle|cattle plague UMLS:C0035637|MESH:D012301 owl:Class MONDO:0032815 biolink:NamedThing mitochondrial DNA depletion syndrome 17 tmpak2llvmy_mondo_relaxed.owl MTDPS17|MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM:618567 owl:Class HP:0011035 biolink:NamedThing Abnormal renal cortex morphology An abnormality of the cortex of the kidney. tmpak2llvmy_mondo_relaxed.owl Abnormality of renal cortex morphology UMLS:C4023580 peter 2011-03-06T11:31:39Z human_phenotype owl:Class MONDO:0008942 biolink:NamedThing cerebelloparenchymal disorder II tmpak2llvmy_mondo_relaxed.owl cerebelloparenchymal disorder II|CPD2|CPD, late-onset recessive type MESH:C565866|UMLS:C1859299|OMIM:213100 owl:Class MONDO:0011141 biolink:NamedThing folate level in erythrocytes tmpak2llvmy_mondo_relaxed.owl folate level in erythrocytes OMIM:601775 owl:Class UBERON:0005979 biolink:NamedThing crista terminalis The vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium tmpak2llvmy_mondo_relaxed.owl crista terminalis cordis|crista terminalis atrii dextri|crista terminalis of right atrium owl:Class MONDO:0004050 biolink:NamedThing telangiectatic osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. tmpak2llvmy_mondo_relaxed.owl malignant bone aneurysm|TEOS|telangiectatic osteosarcoma|telangiectatic osteosarcoma (morphologic abnormality) NCIT:C3902|DOID:6951|ICDO:9183/3|ONCOTREE:TEOS|UMLS:C0259782 owl:Class MONDO:0054761 biolink:NamedThing microcephaly 20, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl microcephaly 20, PRIMARY, autosomal recessive|MCPH20 OMIM:617914 owl:Class MONDO:0018426 biolink:NamedThing AXIN2-related attenuated familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli|AXIN2-related AFAP ICD10:D12.6|UMLS:CN226139|Orphanet:401911 owl:Class MONDO:0012657 biolink:NamedThing Mungan syndrome tmpak2llvmy_mondo_relaxed.owl visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|MUNGAN syndrome|MGS|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities OMIM:611376|MESH:C548078|GARD:0010687 owl:Class MONDO:0016834 biolink:NamedThing 16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. tmpak2llvmy_mondo_relaxed.owl dup(16)(p11.2p12.2)|trisomy 16p11.2p12.2 UMLS:C4518821|SCTID:733518000|UMLS:CN202168|ICD10:Q92.3|Orphanet:261204 owl:Class MONDO:0008835 biolink:NamedThing asthma, short stature, and elevated IgA tmpak2llvmy_mondo_relaxed.owl asthma, short stature, and elevated IgA MESH:C565934|UMLS:C1859647|OMIM:208600 owl:Class MONDO:0035362 biolink:NamedThing TRIM22-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene. tmpak2llvmy_mondo_relaxed.owl TRIM22-related IBD 2021-12-01 Orphanet:597201 Reason: out of scope. Term to consider: MONDO_0005265 'inflammatory bowel disease'. https://github.com/monarch-initiative/mondo/issues/3540 owl:Class MONDO:0004098 biolink:NamedThing malignant melanocytic peripheral nerve sheath tumor of mediastinum A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. tmpak2llvmy_mondo_relaxed.owl mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic peripheral nerve sheath tumor of mediastinum|malignant mediastinal melanocytic peripheral nerve sheath tumor|mediastinal melanocytic MPNST|malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanotic peripheral nerve sheath tumor of the mediastinum NCIT:C6630|DOID:7077|UMLS:C1334600 owl:Class MONDO:0003753 biolink:NamedThing nasal vestibule squamous papilloma A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. tmpak2llvmy_mondo_relaxed.owl squamous papilloma of nasal vestibule|papilloma of nasal vestibule|nasal vestibule squamous papilloma|papilloma of the nasal vestibule|squamous papilloma of the nasal vestibule|nasal vestibule papilloma ICD9:478.19|DOID:6059|NCIT:C4369|UMLS:C0339826|SCTID:232364006 owl:Class NCBITaxon:2842407 biolink:NamedThing Alpharhabdovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012307 biolink:NamedThing familial scaphocephaly syndrome, McGillivray type Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. tmpak2llvmy_mondo_relaxed.owl scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome|scaphocephaly, maxillary retrusion, and intellectual disability Orphanet:168624|UMLS:C1865070|OMIM:609579|MESH:C566511|ICD10:Q87.0 owl:Class PATO:0002507 biolink:NamedThing keratinous A composition quality inhering in a bearer by virtue of the bearer's consisting of keratin. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005235 biolink:NamedThing smoldering plasma cell myeloma A plasma cell myeloma lacking clinical manifestations and organ impairment. tmpak2llvmy_mondo_relaxed.owl smoldering Multiple myeloma/plasma cell myeloma|smoldering plasma cell myeloma|asymptomatic plasma cell myeloma|smoldering multiple myeloma|smoldering myeloma|asymptomatic myeloma SCTID:440422002|NCIT:C7149|DOID:9551|EFO:0003073 owl:Class MONDO:0020513 biolink:NamedThing spermatocytic seminoma A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. tmpak2llvmy_mondo_relaxed.owl spermatocytic seminoma|testicular spermatocytic seminoma|spermatocytoma Orphanet:99865|DOID:5834|DOID:7891|ICDO:9063/3|NCIT:C39921|UMLS:C0334517|ICD10:C62.9 owl:Class MONDO:0010809 biolink:NamedThing familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). tmpak2llvmy_mondo_relaxed.owl familial CML-like syndrome|CML-like syndrome, familial|myelocytic leukemia-like syndrome, familial, chronic GARD:0010141|MESH:C536093|OMIM:600080|UMLS:C1838670|DOID:0060761 https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic owl:Class HGNC:4444 biolink:NamedThing GP9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023757 biolink:NamedThing meralgia paresthetica Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms. tmpak2llvmy_mondo_relaxed.owl bernhardt's paresthesia|entrapment of lateral cutaneous nerve of thigh|lateral cutaneous femoral nerve of thigh syndrome|compression of lateral cutaneous femoral nerve of thigh|meralgia paraesthetica familial (type)|bernhardt-rot syndrome|Bernhardt-Roth syndrome|lateral femoral cutaneous nerve entrapment ICD9:355.1|GARD:0009417|UMLS:C0152110|MESH:C537458|SCTID:85007004 https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica owl:Class MONDO:0009202 biolink:NamedThing Thakker-Donnai syndrome tmpak2llvmy_mondo_relaxed.owl Dysmorphism multiple structural anomalies|dysmorphic facial features and multiple structural abnormalities|Dysmorphism-multiple structural anomalies syndrome|facial dysmorphism with multiple malformations GARD:0005158|Orphanet:1780|OMIM:227255|ICD10:Q87.8|UMLS:C2931219 https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome owl:Class NCBITaxon:10319 biolink:NamedThing Varicellovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020849 biolink:NamedThing immunodeficiency 57 tmpak2llvmy_mondo_relaxed.owl IMD57|IMMUNODEFICIENCY 57 OMIM:618108 owl:Class MONDO:0008034 biolink:NamedThing muscular dystrophy, pseudohypertrophic, with Internalized capillaries tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, pseudohypertrophic, with Internalized capillaries UMLS:C1834652|OMIM:159050|MESH:C563554 owl:Class GO:0051235 biolink:NamedThing maintenance of location Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. tmpak2llvmy_mondo_relaxed.owl maintenance of localization|retention|storage|sequestering owl:Class MONDO:0008831 biolink:NamedThing asphyxiating thoracic dystrophy 1 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. tmpak2llvmy_mondo_relaxed.owl short-rib thoracic dysplasia 1 with or without polydactyly|Jeune syndrome|asphyxiating thoracic dystrophy 1|asphyxiating thoracic dystrophy type 1|thoracic-pelvic-phalangeal dystrophy|ATD1|SRTD1 ICD10:Q77.2|OMIM:208500|UMLS:CN119532|DOID:0110085 owl:Class OBO:MFOMD_0000101 biolink:NamedThing delusion Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose). DSM-IV-TR (american Psychiatric Association) tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024285 biolink:NamedThing epsilon-heavy chain disease tmpak2llvmy_mondo_relaxed.owl IgE heavy chain disease ICD9:273.2|UMLS:C0272254|SCTID:60620005 owl:Class HGNC:15517 biolink:NamedThing XYLT2 tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CP_0000043 biolink:NamedThing cartwheel heterochromatin Heterochromatin that is arranged in a carthwheel pattern. tmpak2llvmy_mondo_relaxed.owl tmeehan 2009-12-28T04:28:35Z cell owl:Class GO:0097690 biolink:NamedThing iron ion transmembrane transporter inhibitor activity Binds to and stops, prevents, or reduces the activity of an iron ion transmembrane transporter. tmpak2llvmy_mondo_relaxed.owl iron channel inhibitor activity owl:Class MONDO:0013122 biolink:NamedThing glaucoma 3, primary congenital, D tmpak2llvmy_mondo_relaxed.owl glaucoma 3, primary congenital, D|GLC3D|glaucoma 3, primary congenital, type D MESH:C567765|UMLS:C2751316|OMIM:613086 owl:Class CHEBI:33842 biolink:NamedThing aromatic annulene tmpak2llvmy_mondo_relaxed.owl aromatic annulenes owl:Class MONDO:0009729 biolink:NamedThing nephropathy - deafness - hyperparathyroidism syndrome Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Edwards Patton Dilly syndrome|nephropathy, deafness, and hyperparathyroidism|Edwards-Patton-Dilly syndrome|nephropathy - deafness - hyperparathyroidism OMIM:256120|UMLS:C1850553|GARD:0003940|Orphanet:2668|SCTID:724093004|MESH:C536401|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism owl:Class MONDO:0012955 biolink:NamedThing lung cancer susceptibility 4 tmpak2llvmy_mondo_relaxed.owl lung cancer susceptibility 4|LNCR4 OMIM:612593|UMLS:C2675479 owl:Class MONDO:0022715 biolink:NamedThing Chiari malformation type 3 tmpak2llvmy_mondo_relaxed.owl Chiari type III malformation|Arnold Chiari malformation type III|Chiari malformation type III SCTID:253186001|GARD:0009233 https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 owl:Class MONDO:0009132 biolink:NamedThing dysautonomia-like disorder tmpak2llvmy_mondo_relaxed.owl dysautonomia like disorder|dysautonomia-like disorder GARD:0009475|OMIM:224000|UMLS:C1857153|MESH:C535728 https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder owl:Class NCBITaxon:555406 biolink:NamedThing Archamoebae tmpak2llvmy_mondo_relaxed.owl PMID:23020233|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012343 biolink:NamedThing aortic aneurysm, familial abdominal, 2 tmpak2llvmy_mondo_relaxed.owl AAA2|aortic aneurysm, familial abdominal, 2 MESH:C565229|OMIM:609782|UMLS:C1853364 owl:Class MONDO:0018654 biolink:NamedThing idiopathic dropped head syndrome tmpak2llvmy_mondo_relaxed.owl isolated neck extensor myopathy UMLS:CN237712|Orphanet:447881 owl:Class MONDO:0013792 biolink:NamedThing intracerebral hemorrhage Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. tmpak2llvmy_mondo_relaxed.owl ich|stroke, hemorrhagic, susceptibility to|hemorrhage, intracerebral, susceptibility to MESH:D002543|SCTID:274100004|OMIM:614519|ICD9:431|EFO:0005669 Editor note: consider separate subclass for OMIM ID owl:Class MONDO:0044014 biolink:NamedThing postpartum thyroiditis A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum tmpak2llvmy_mondo_relaxed.owl thyroiditides, postpartum|thyroiditis, post-partum|post-partum thyroiditis|thyroiditides, post-partum|postpartum thyroiditides|post partum thyroiditis|thyroiditis, postpartum|postpartum thyroiditis|post-partum thyroiditides MESH:D050032|UMLS:C0271815|SCTID:52772002|NCIT:C114389 owl:Class NCBITaxon:7898 biolink:NamedThing Actinopterygii tmpak2llvmy_mondo_relaxed.owl Osteichthyes|ray-finned fishes|fish|Actinopterygi|fishes|bony fishes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013814 biolink:NamedThing podoconiosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl PDCOS|lymphostatic verrucosis, susceptibility to|podoconiosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to OMIM:614590 owl:Class NCBITaxon:11244 biolink:NamedThing Pneumoviridae tmpak2llvmy_mondo_relaxed.owl Pneumovirinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020007 biolink:NamedThing absence of the pulmonary artery Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. tmpak2llvmy_mondo_relaxed.owl UMLS:CN206941|ICD10:Q25.7|Orphanet:980 owl:Class MONDO:0016360 biolink:NamedThing marcothrombocytopenia with mitral valve insufficiency Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. tmpak2llvmy_mondo_relaxed.owl ICD10:D69.4|Orphanet:220448 owl:Class HP:0002248 biolink:NamedThing Hematemesis The vomiting of blood. tmpak2llvmy_mondo_relaxed.owl Vomitting blood SNOMEDCT_US:8765009|UMLS:C0018926|MSH:D006396 The source of hematemesis is generally the upper gastrointestinal tract. human_phenotype owl:Class MONDO:0001896 biolink:NamedThing obstructive hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. tmpak2llvmy_mondo_relaxed.owl non-communicating hydrocephalus NCIT:C116347|SCTID:230746009|ICD9:331.4|UMLS:C0549423|DOID:14159|ICD10:G91.1 owl:Class MONDO:0010290 biolink:NamedThing goiter, multinodular 2 tmpak2llvmy_mondo_relaxed.owl MNG2|goiter, multinodular 2 UMLS:C1846033|MESH:C564546|OMIM:300273 owl:Class MONDO:0022573 biolink:NamedThing biliary atresia intrahepatic non syndromic form tmpak2llvmy_mondo_relaxed.owl GARD:0000887 https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form owl:Class MONDO:0043131 biolink:NamedThing michels caskey syndrome tmpak2llvmy_mondo_relaxed.owl Mullerian aplasia with hypoplastic thumbs|Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities UMLS:C2931537|MESH:C537576|GARD:0003590 owl:Class HGNC:2621 biolink:NamedThing CYP2C19 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012422 biolink:NamedThing type 1 diabetes mellitus 19 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. tmpak2llvmy_mondo_relaxed.owl IDDM19|diabetes mellitus, insulin-dependent, 19|insulin-dependent diabetes mellitus 19 DOID:0110756|OMIM:610155|MESH:C565715|UMLS:C1857808|ICD10:E10 owl:Class MONDO:0100185 biolink:NamedThing immune reconstitution inflammatory syndrome An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens. tmpak2llvmy_mondo_relaxed.owl immune restoration disease|IRS|immune reconstitution syndrome|IRD|IRIS|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0027048 biolink:NamedThing deafness, Y-linked 2 tmpak2llvmy_mondo_relaxed.owl DFNY2 DOID:0111758|OMIM:400047 owl:Class MONDO:0003673 biolink:NamedThing apical myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. tmpak2llvmy_mondo_relaxed.owl DOID:5848 owl:Class MONDO:0033482 biolink:NamedThing spinocerebellar ataxia 47 tmpak2llvmy_mondo_relaxed.owl SCA47|spinocerebellar ataxia 47 DOID:0111743|UMLS:CN244564|OMIM:617931 owl:Class HGNC:16232 biolink:NamedThing COX4I2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024490 biolink:NamedThing tumor grade X, general grading system tmpak2llvmy_mondo_relaxed.owl undetermined grade owl:Class MONDO:0001660 biolink:NamedThing proliferative diabetic retinopathy Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. tmpak2llvmy_mondo_relaxed.owl DOID:13207|NCIT:C84457|UMLS:C0154830|SCTID:59276001|ICD9:362.02 owl:Class MONDO:0002904 biolink:NamedThing echolalia A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. tmpak2llvmy_mondo_relaxed.owl echolalia|echolalia (disease) echolalia (disease) DOID:4188|MESH:D004454|HP:0010529 owl:Class MONDO:0042499 biolink:NamedThing benign familial neonatal-infantile seizures 1 tmpak2llvmy_mondo_relaxed.owl BFIS1|benign familial infantile convulsions syndrome 1|benign infantile familial convulsions|benign infantile familial convulsions 1|seizures, benign familial infantile, 1|convulsions, benign familial infantile, 1|BFIC1|benign familial infantile convulsions syndrome GARD:0000856|OMIM:601764 owl:Class MONDO:0008766 biolink:NamedThing amaurosis-hypertrichosis syndrome Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. tmpak2llvmy_mondo_relaxed.owl amaurosis congenita, cone-rod type, with congenital hypertrichosis|amaurosis congenita cone-rod type with congenital hypertrichosis ICD10:H35.5|OMIM:204110|GARD:0000637|Orphanet:1021|SCTID:720983002|MESH:C536604 https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis owl:Class MONDO:0100419 biolink:NamedThing acute myeloid leukemia, KIT exon 8 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.) tmpak2llvmy_mondo_relaxed.owl AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation|AML, c-KIT Exon 8 Mutation|AML, KIT exon 8 mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation|AML, CD117 Exon 8 Mutation owl:Class NCBITaxon:945 biolink:NamedThing Ehrlichia chaffeensis tmpak2llvmy_mondo_relaxed.owl PMID:1757557|PMID:11760958|GC_ID:11 ncbi_taxonomy owl:Class CL:1001602 biolink:NamedThing cerebral cortex endothelial cell Endothelial cells forming the walls of the capillaries within the cerebral cortex. tmpak2llvmy_mondo_relaxed.owl cerebral cortex endothelial cells|endothelial cells of cerebral cortex CALOHA:TS-2372 owl:Class MONDO:0006313 biolink:NamedThing nabothian cyst A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium. tmpak2llvmy_mondo_relaxed.owl SCTID:24565001|NCIT:C34835|UMLS:C0027269|Wikipedia:Nabothian_cyst|EFO:1000390 Editor note: check this owl:Class HP:0012700 biolink:NamedThing Abnormal large intestine physiology A functional anomaly of the large intestine. tmpak2llvmy_mondo_relaxed.owl UMLS:C4022766 peter 2014-03-22T06:20:38Z human_phenotype owl:Class MONDO:0044923 biolink:NamedThing acute myeloid leukemia with mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. tmpak2llvmy_mondo_relaxed.owl AML, NPM1 gene mutation|NPMc+ AML|AML, NPM1 Mutation|AML with mutated NPM1|AML, Nucleophosmin Gene Mutation|AML, Mutation of the Nucleophosmin Gene|acute myeloid leukemia with cytoplasmic nucleophosmin|acute myeloid leukemia with mutated NPM1|acute myeloid leukemia, NPM1 gene mutation ONCOTREE:AMLNPM1|NCIT:C82431|UMLS:C2826177 https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0024532 biolink:NamedThing otofaciocervical syndrome 1 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpak2llvmy_mondo_relaxed.owl OTFCS|OFC|EYA1 otofaciocervical syndrome|otofaciocervical syndrome caused by mutation in EYA1|OFC1|otofaciocervical syndrome 1 OMIM:166780|UMLS:CN034490|UMLS:C3714941 owl:Class MONDO:0006930 biolink:NamedThing pseudobulbar palsy A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. tmpak2llvmy_mondo_relaxed.owl pseudobulbar palsy|pseudobulbar paralysis NCIT:C129934|ICD9:335.23|EFO:1001131|UMLS:C0033790|MedDRA:10037114|DOID:12680|MESH:D020828|SCTID:7379000 owl:Class MONDO:0012558 biolink:NamedThing epiphyseal dysplasia, Baumann type tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, Baumann type OMIM:610797|UMLS:C1835830|MESH:C563664 owl:Class MONDO:0013908 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3 OMIM:614834 owl:Class HGNC:2844 biolink:NamedThing DGCR tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010776 biolink:NamedThing hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial tmpak2llvmy_mondo_relaxed.owl hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial MESH:C564024|OMIM:500005|UMLS:C1839021 owl:Class UBERON:0005005 biolink:NamedThing mucosa of left ureter A mucosa that is part of a left ureter [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl organ mucosa of left ureter|mucous membrane of left ureter|left ureter mucous membrane|left ureteral mucosa|left ureter mucosa of organ|mucosa of organ of left ureter|left ureter mucosa|left ureter organ mucosa owl:Class MONDO:0011752 biolink:NamedThing nephronophthisis 4 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. tmpak2llvmy_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in NPHP4|juvenile nephronophthisis 4|NPHP4 nephronophthisis (disease)|nephronophthisis 4, juvenile|NPHP4|nephronophthisis type 4|nephronophthisis 4 UMLS:C2959367|UMLS:C1847013|DOID:0111115|MESH:C564640|OMIM:606966|SCTID:446989009 owl:Class MONDO:0013023 biolink:NamedThing orofacial cleft 12 tmpak2llvmy_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 12|orofacial cleft 12|OFC12 OMIM:612858|DOID:0080405|UMLS:C2748505|MESH:C567548 owl:Class MONDO:0005925 biolink:NamedThing pneumonic pasteurellosis Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. tmpak2llvmy_mondo_relaxed.owl EFO:0007449|MESH:D012766|UMLS:C0036969 owl:Class MONDO:0012716 biolink:NamedThing spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). tmpak2llvmy_mondo_relaxed.owl spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome|SED-BDS|Sed-BDS|Tatoo dysplasia|fantasy Island syndrome|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|tattoo dysplasia UMLS:C2673649|OMIM:611717|MESH:C567128|GARD:0010629|SCTID:718765003|ICD10:Q77.7|Orphanet:163654 owl:Class MONDO:0024412 biolink:NamedThing Peptostreptococcus infectious disease A disease caused by infection with Peptostreptococcus. tmpak2llvmy_mondo_relaxed.owl Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder|Peptostreptococcus infection SCTID:135341000119101|ICD9:041.84|UMLS:C1096562 owl:Class NCBITaxon:147571 biolink:NamedThing Piedraiaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2750822 biolink:NamedThing unclassified Mycobacterium avium complex (MAC) tmpak2llvmy_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014146 biolink:NamedThing autosomal dominant hypocalcemia 2 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpak2llvmy_mondo_relaxed.owl hypocalcemia, autosomal dominant type 2|autosomal dominant hypocalcemia type 2|HYPOC2|hypocalcemia, autosomal dominant 2 OMIM:615361|DOID:0090108|UMLS:C3809243 owl:Class MONDO:0032716 biolink:NamedThing leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate tmpak2llvmy_mondo_relaxed.owl LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE|ARLIAK OMIM:618384 owl:Class MONDO:0007338 biolink:NamedThing cleft soft palate Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. tmpak2llvmy_mondo_relaxed.owl cleft soft palate|cleft velum|soft cleft palate|cleft velum palatinum MESH:C562950|SCTID:253997002|ICD10:Q35.3|Orphanet:99772|DOID:0110214|OMIM:119570 owl:Class MONDO:0007821 biolink:NamedThing immunoglobulin switch sequences tmpak2llvmy_mondo_relaxed.owl immunoglobulin switch sequences|Immunoglobulin-independent switch Sequences|S Sequences 2022-02-01 OMIM:147260|UMLS:C1840234 Reason: out of scope. owl:Class CHEBI:35191 biolink:NamedThing triterpene A C30 terpene. tmpak2llvmy_mondo_relaxed.owl triterpenes|Triterpen|triterpenos|triterpeno owl:Class MONDO:0009600 biolink:NamedThing metaphyseal dysplasia, anetoderma, and optic atrophy tmpak2llvmy_mondo_relaxed.owl metaphyseal dysplasia, anetoderma, and optic atrophy OMIM:250450|UMLS:C1855174|MESH:C565395 owl:Class MONDO:0005799 biolink:NamedThing hookworm infectious disease Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. tmpak2llvmy_mondo_relaxed.owl infection, hookworm|Bunostomiases|hookworm infection|infections, hookworm|Bunostomiasis EFO:0007314 Editor note: TODO owl:Class MONDO:0018475 biolink:NamedThing PRKAR1B-related neurodegenerative dementia with intermediate filaments tmpak2llvmy_mondo_relaxed.owl ICD10:G31.8|Orphanet:412066|UMLS:CN237461 owl:Class MONDO:0007838 biolink:NamedThing Jacobsen syndrome Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. tmpak2llvmy_mondo_relaxed.owl Del(11)(q23.3)|distal deletion 11q|Del(11)(qter)|telomeric deletion 11q|Jacobsen syndrome|distal monosomy 11q|chromosome 11q deletion syndrome|11q terminal deletion disorder|monosomy 11qter|partial 11q monosomy syndrome|JBS GARD:0000307|NCIT:C75457|DOID:0111723|SCTID:715438008|Orphanet:2308|ICD10:Q93.5|UMLS:C0795841|OMIM:147791 owl:Class MONDO:0009714 biolink:NamedThing myosclerosis Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. tmpak2llvmy_mondo_relaxed.owl myosclerosis, congenital, of Lowenthal|myosclerosis, autosomal recessive|myopathy, myosclerotic|congenital myosclerosis, LC6wenthal type|congenital myosclerosis, Löwenthal type SCTID:763895001|MESH:C564968|Orphanet:289380|OMIM:255600|ICD10:G71.8|MedDRA:10064584 owl:Class NCBITaxon:138949 biolink:NamedThing Enterovirus B tmpak2llvmy_mondo_relaxed.owl Human enterovirus B|Enterovirus EV-B GC_ID:1 ncbi_taxonomy owl:Class HGNC:465 biolink:NamedThing AMHR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032730 biolink:NamedThing leukodystrophy, hypomyelinating, 18 tmpak2llvmy_mondo_relaxed.owl LEUKODYSTROPHY, HYPOMYELINATING, 18|HLD18 OMIM:618404 owl:Class MONDO:0011737 biolink:NamedThing parkinson disease 10 tmpak2llvmy_mondo_relaxed.owl PARK10|Parkinson disease 10|Parkinson disease, Age at onset of MESH:C564653|UMLS:C1847360|OMIM:606852 owl:Class MONDO:0020394 biolink:NamedThing tunnel subaortic stenosis tmpak2llvmy_mondo_relaxed.owl Orphanet:99053|ICD10:Q24.4 owl:Class MONDO:0011572 biolink:NamedThing type 1 diabetes mellitus 18 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. tmpak2llvmy_mondo_relaxed.owl insulin-dependent diabetes mellitus 18|IDDM18|diabetes mellitus, insulin-dependent, 18 MESH:C565315|DOID:0110755|ICD10:E10|UMLS:C1854125|OMIM:605598 owl:Class MONDO:0001664 biolink:NamedThing submucous uterine fibroid tmpak2llvmy_mondo_relaxed.owl submucous leiomyoma of uterus UMLS:C0153993|DOID:13222|ICD9:218.0|ICD10:D25.0|SCTID:95279007 owl:Class MONDO:0007351 biolink:NamedThing coloboma of macula Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. tmpak2llvmy_mondo_relaxed.owl coloboma of macula|macular coloboma|agenesis of macula|hereditary macular coloboma (subtype) Orphanet:98945|OMIM:120300|GARD:0001436|ICD10:Q14.8 owl:Class MONDO:0007513 biolink:NamedThing ectodermal dysplasia with adrenal cyst tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia with adrenal cyst|Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome Orphanet:3391|OMIM:129550|MESH:C538015|UMLS:C1851850 owl:Class MONDO:0030013 biolink:NamedThing immunodeficiency 66 tmpak2llvmy_mondo_relaxed.owl IMD66|IMMUNODEFICIENCY 66|immunodeficiency 66 OMIM:618847 owl:Class HGNC:17866 biolink:NamedThing HAVCR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004538 biolink:NamedThing endocervical type cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. tmpak2llvmy_mondo_relaxed.owl cervical adenocarcinoma, endocervical type|cervical mucinous adenocarcinoma, endocervical type NCIT:C40202|UMLS:C1516421|DOID:8340 owl:Class MONDO:0010450 biolink:NamedThing intellectual disability, X-linked 89 tmpak2llvmy_mondo_relaxed.owl intellectual disability, X-linked 89|mental retardation, X-linked 89|MRX89 OMIM:300848|MESH:C564036 owl:Class MONDO:0009888 biolink:NamedThing polycystic kidney, cataract, and congenital blindness tmpak2llvmy_mondo_relaxed.owl polycystic kidney, cataract, and congenital blindness UMLS:C1849771|MESH:C564882|OMIM:263100 owl:Class MONDO:0100383 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;19)(q23;p13) owl:Class MONDO:0016822 biolink:NamedThing myalgia-eosinophilia syndrome associated with tryptophan A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. tmpak2llvmy_mondo_relaxed.owl MedDRA:10014952|Orphanet:2582|ICD10:M35.8 owl:Class HGNC:11795 biolink:NamedThing THPO tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16466 biolink:NamedThing SUFU tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001496 biolink:NamedThing male genital organ stricture tmpak2llvmy_mondo_relaxed.owl stricture of male genital organs DOID:12333|ICD9:608.85|SCTID:198064007 owl:Class MONDO:0022444 biolink:NamedThing amyloidosis bronchopulmonary Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. tmpak2llvmy_mondo_relaxed.owl GARD:0001026 https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary owl:Class MONDO:0011206 biolink:NamedThing ventriculomegaly with defects of the radius and kidney tmpak2llvmy_mondo_relaxed.owl ventriculomegaly with defects of the radius and kidney UMLS:C1865780|MESH:C566565|OMIM:602200 owl:Class MONDO:0010569 biolink:NamedThing X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. tmpak2llvmy_mondo_relaxed.owl X-linked partial agenesis of corpus callosum|corpus callosum, partial agenesis of, X-linked|X-linked complicated corpus callosum agenesis|X-linked partial corpus callosum agenesis MESH:C564115|GARD:0012526|ICD10:Q04.8|OMIM:304100|Orphanet:1497|UMLS:C1839909 owl:Class MONDO:0022977 biolink:NamedThing diaphragmatic hernia exomphalos corpus callosum agenesis tmpak2llvmy_mondo_relaxed.owl GARD:0001846 https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis owl:Class MONDO:0007758 biolink:NamedThing epidermolytic palmoplantar keratoderma A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. tmpak2llvmy_mondo_relaxed.owl epidermolytic palmoplantar keratoderma of Vörner|palmoplantar keratoderma, epidermolytic|epidermolytic palmoplantar keratoderma of VC6rner|epidermolytic palmoplantar keratoderma of Voerner|EPPK|diffuse erythrodermic palmoplantar keratoderma, Voerner type|keratoderma, epidermolytic palmoplantar|keratosis of Greither|Ppke|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|hyperkeratosis palmoplantar localized epidermolytic|tylosis|hyperkeratosis, localized epidermolytic|palmoplantar keratoderma, Vorner type|diffuse erythrodermic palmoplantar keratoderma, Vörner type|palmoplantar keratoderma, epidermolytic, with knuckle pads|keratosis palmaris Et plantaris Familiaris Orphanet:2199|SCTID:399955009|DOID:0080223|GARD:0002826|ICD9:757.39|ICD10:Q82.8|UMLS:C1721006|NCIT:C84693|OMIM:144200 https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma owl:Class MONDO:0010128 biolink:NamedThing thyrocerebrorenal syndrome Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl cutler-Bass-Romshe syndrome|Thyrocerebral-retinal syndrome|THYROCEREBRORETINAL syndrome UMLS:C1848813|OMIM:274240|SCTID:733096007|GARD:0005203|Orphanet:3327|MESH:C536908|UMLS:C4518579 owl:Class MONDO:0017268 biolink:NamedThing acral self-healing collodion baby Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities. tmpak2llvmy_mondo_relaxed.owl acral SHCB SCTID:718633009|ICD10:Q80.2|Orphanet:281127 owl:Class MONDO:0015054 biolink:NamedThing hereditary angioedema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpak2llvmy_mondo_relaxed.owl HAE-II|HAE 2|hereditary angioneurotic edema type 2 UMLS:C1862892|ICD10:D84.1|Orphanet:100051 owl:Class HGNC:9685 biolink:NamedThing PTPRZ1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25763 biolink:NamedThing SMG9 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015033 biolink:NamedThing ABeta amyloidosis, dutch type Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. tmpak2llvmy_mondo_relaxed.owl HCHWA, Dutch type|cerebral amyloid angiopathy, APP-related, Dutch variant|ABetaE22Q amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA-D SCTID:56453003|Orphanet:100006|ICD10:E85.4+|ICD9:277.39|ICD10:I68.0* owl:Class HGNC:3573 biolink:NamedThing FADD tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:446 biolink:NamedThing Legionella pneumophila tmpak2llvmy_mondo_relaxed.owl PMID:434652|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013230 biolink:NamedThing epilepsy, hot water, 2 tmpak2llvmy_mondo_relaxed.owl HWE2|epilepsy, hot water, 2 UMLS:C3150536|OMIM:613340 owl:Class MONDO:0019841 biolink:NamedThing pituitary hormone defiency from vascular origin tmpak2llvmy_mondo_relaxed.owl ICD10:E23.0|Orphanet:95611 owl:Class MONDO:0044700 biolink:NamedThing SIN3A-related intellectual disability syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:500166 owl:Class MONDO:0023609 biolink:NamedThing le Marec-Bracq-Picaud syndrome tmpak2llvmy_mondo_relaxed.owl complex malformation syndrome with brachymesomelia GARD:0000171|MESH:C536997|UMLS:C2931385 https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome owl:Class HGNC:799 biolink:NamedThing ATP1A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005698 biolink:NamedThing cervical incompetence A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. tmpak2llvmy_mondo_relaxed.owl DOID:9681|SCTID:17382005|ICD9:654.50|MESH:D002581|ICD10:N88.3|EFO:0007202|ICD9:622.5 owl:Class MONDO:0011276 biolink:NamedThing orofacial cleft 2 tmpak2llvmy_mondo_relaxed.owl orofacial cleft 2|cleft lip with or without cleft palate, nonsyndromic, 2|OFC2 UMLS:C1864323|MESH:C566419|DOID:0080396|OMIM:602966 owl:Class MONDO:0022826 biolink:NamedThing congenital cystic eye multiple ocular and intracranial anomalies tmpak2llvmy_mondo_relaxed.owl GARD:0001479 https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies owl:Class MONDO:0012629 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31. tmpak2llvmy_mondo_relaxed.owl dystonia 20|PNKD2|paroxysmal nonkinesigenic dyskinesia type 2|paroxysmal nonkinesigenic dyskinesia 2 ICD10:G24.8|UMLS:C1970149|OMIM:611147|MESH:C567001|DOID:0090047 owl:Class MONDO:0001936 biolink:NamedThing brawny scleritis tmpak2llvmy_mondo_relaxed.owl ICD10:H15.02|ICD9:379.06|UMLS:C0155356|DOID:14287|SCTID:91612009 owl:Class MONDO:0004940 biolink:NamedThing acute female pelvic peritonitis tmpak2llvmy_mondo_relaxed.owl ICD10:N73.3|SCTID:85051008|UMLS:C0269032|ICD9:614.5|DOID:9978 owl:Class NCBITaxon:40005 biolink:NamedThing Yellow fever virus group tmpak2llvmy_mondo_relaxed.owl Yellow fever viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015097 biolink:NamedThing aortic valve dysplasia tmpak2llvmy_mondo_relaxed.owl SCTID:253604004|ICD10:Q23.0|Orphanet:101043|ICD9:746.89 owl:Class MONDO:0017712 biolink:NamedThing combined pancreatic lipase-colipase deficiency "Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. tmpak2llvmy_mondo_relaxed.owl Orphanet:309111|ICD10:K90.3 owl:Class MONDO:0032822 biolink:NamedThing developmental and epileptic encephalopathy, 80 tmpak2llvmy_mondo_relaxed.owl Glycosylphosphatidylinositol Biosynthesis Defect 20|EIEE80|DEE80|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80|epileptic encephalopathy, early infantile, 80 OMIM:618580 owl:Class MONDO:0100428 biolink:NamedThing progressive bulbar palsy of childhood A progressive bulbar palsy of childhood that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl Fazio-Londe disease UMLS:C0393540|DOID:0080632|OMIM:211500|Orphanet:56965|SCTID:230246005 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0030337 biolink:NamedThing cutis laxa, autosomal recessive, type 2E tmpak2llvmy_mondo_relaxed.owl ARCL2E|cutis laxa, autosomal recessive, type 2E OMIM:619451 owl:Class MONDO:0009676 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2B|DYSF autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|limb-girdle muscular dystrophy due to dysferlin deficiency|limb-girdle muscular dystrophy type 3|limb-girdle muscular dystrophy, type 2B|limb-girdle muscular dystrophy type 2B|muscular dystrophy, limb-girdle, type 3|LGMD3|LGMD2B ICD10:G71.0|DOID:0110276|NCIT:C142080|MESH:C535899|SCTID:718179003|GARD:0008574|Orphanet:268|OMIM:253601 owl:Class MONDO:0016356 biolink:NamedThing diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). tmpak2llvmy_mondo_relaxed.owl diffuse cutaneous systemic scleroderma|progressive cutaneous systemic scleroderma|dSSc|DcSSc|progressive cutaneous systemic sclerosis ICD10:M34.0|GARD:0009751|NCIT:C116791|Orphanet:220393 https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis owl:Class MONDO:0006300 biolink:NamedThing medullomyoblastoma with myogenic differentiation A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. tmpak2llvmy_mondo_relaxed.owl MMB|medullomyoblastoma with myogenic differentiation|medullomyoblastoma UMLS:C0205833|EFO:1000368|ICDO:9472/3|DOID:3861|NCIT:C3706|ONCOTREE:MMB owl:Class CL:0011013 biolink:NamedThing motile sperm cell A sperm cell that is cabaple of motion (motility). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100408 biolink:NamedThing acute myeloid leukemia, t(16;21)(q24;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(16;21)(q24;q22) owl:Class MONDO:0003788 biolink:NamedThing childhood embryonal testis carcinoma An embryonal carcinoma that arises from the testis during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of the testis|pediatric embryonal carcinoma of testis|childhood embryonal carcinoma of testis|testicular embryonal carcinoma of childhood|pediatric embryonal carcinoma of the testis|childhood testicular embryonal carcinoma DOID:6162|UMLS:C1333007|NCIT:C6545 owl:Class MONDO:0005435 biolink:NamedThing anti-neutrophil antibody associated vasculitis Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpak2llvmy_mondo_relaxed.owl EFO:0004826 owl:Class MONDO:0018548 biolink:NamedThing acute poisoning by drugs with membrane-stabilizing effect Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. tmpak2llvmy_mondo_relaxed.owl Orphanet:43119|UMLS:CN227538 owl:Class MONDO:0016783 biolink:NamedThing maternal 14q32.2 hypermethylation syndrome tmpak2llvmy_mondo_relaxed.owl ICD10:Q99.8|UMLS:CN202039|Orphanet:254534 owl:Class MONDO:0019795 biolink:NamedThing acalvaria Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. tmpak2llvmy_mondo_relaxed.owl Acrania|primary acalvaria ICD10:Q00.0|UMLS:C2930936|Orphanet:945|SCTID:203923004|MESH:C535570|GARD:0000361 https://rarediseases.info.nih.gov/diseases/361/acalvaria owl:Class MONDO:0023196 biolink:NamedThing frontonasal malformation cloacal exstrophy tmpak2llvmy_mondo_relaxed.owl fronto nasal malformation cloacal exstrophy GARD:0002389 https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy owl:Class MONDO:0017092 biolink:NamedThing unilateral polymicrogyria Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. tmpak2llvmy_mondo_relaxed.owl SCTID:715905006|ICD10:Q04.3|UMLS:C4024960|Orphanet:268943 owl:Class PO:0030108 biolink:NamedThing berry fruit A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085). tmpak2llvmy_mondo_relaxed.owl berry (exact)|beere (exact, German)|baya (exact, Spanish)|bacca (exact)|pyrine (narrow)|indehiscent fruit (broad) PO_GIT:652 Examples: pepper (Capsicum annuum), papaya (Carica papaya), avocado (Persea americana), may apple (Podophyllum peltatum), date palm (Phoenix dactylifera), tomato (Solanum lycopersicum), potato (Solanum tuberosum), chocolate (Theobroma cacao), blueberry (Vaccinium spp.), and grape (Vitis vinifera). plant_anatomy owl:Class MONDO:0018340 biolink:NamedThing hereditary isolated aplastic anemia tmpak2llvmy_mondo_relaxed.owl ICD10:D61.0|Orphanet:397692 owl:Class MONDO:0017694 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. tmpak2llvmy_mondo_relaxed.owl GSD type 2, infantile onset|GSD due to acid maltase deficiency, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type II, infantile onset|glycogen storage disease type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|Pompe disease, infantile onset|glycogenosis type II, infantile onset|GSD type II, infantile onset|glycogenosis type 2, infantile onset SCTID:722302009|UMLS:C3888924|ICD10:E74.0|UMLS:CN203590|Orphanet:308552 owl:Class UBERON:0003343 biolink:NamedThing mucosa of oral region A mucosa that is part of a oral opening [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl subdivision of mouth mucosa of organ|oral region organ mucosa|oral region mucosa|oral opening mucosa|mucous membrane of oral part of face|oral part of face mucosa|organ mucosa of oral region|oral opening organ mucosa|mucous membrane of subdivision of mouth|oral region mucosa of organ|oral part of face mucous membrane|organ mucosa of oral part of face|subdivision of mouth mucosa|oral part of face mucosa of organ|subdivision of mouth mucous membrane|mucosa of oral opening|mucosa of oral part of face|subdivision of mouth organ mucosa|oral opening mucous membrane|mucosa of organ of oral opening|oral part of face organ mucosa|mucosa of subdivision of mouth|mucosa of organ of oral region|organ mucosa of subdivision of mouth|organ mucosa of oral opening|oral region mucous membrane|mucosa of organ of oral part of face|mucous membrane of oral region|mucous membrane of oral opening|mucosa of organ of subdivision of mouth|oral opening mucosa of organ owl:Class MONDO:0006426 biolink:NamedThing spinal cord primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal cord primitive neuroectodermal tumor|primitive neuroectodermal tumor of the spinal cord|spinal cord PNET|primitive neuroectodermal neoplasm of the spinal cord|primitive neuroectodermal neoplasm of spinal cord|primitive neuroectodermal tumor of spinal cord|spinal cord primitive neuroectodermal neoplasm NCIT:C5406|EFO:1000545|DOID:6872|UMLS:C1336048 owl:Class MONDO:0011174 biolink:NamedThing hyperzincemia with functional zinc depletion tmpak2llvmy_mondo_relaxed.owl hyperzincemia with functional zinc depletion OMIM:601979|MESH:C566595|UMLS:C1865986 owl:Class CL:0002024 biolink:NamedThing Kit-positive megakaryocyte progenitor cell A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low. tmpak2llvmy_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T02:39:15Z cell owl:Class MONDO:0009355 biolink:NamedThing Hooft disease tmpak2llvmy_mondo_relaxed.owl delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids|Hooft disease MESH:C535329|OMIM:236300|UMLS:C0268479|GARD:0009702 https://rarediseases.info.nih.gov/diseases/9702/hooft-disease owl:Class MONDO:0010983 biolink:NamedThing dystonia 9 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. tmpak2llvmy_mondo_relaxed.owl Cse choreoathetosis, paroxysmal, with episodic ataxia|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|DYT9|choreoathetosis/spasticity, episodic|dystonia type 9|episodic choreoathetosis/spasticity|dystonia 9 OMIM:601042|UMLS:C1832855|MESH:C563401|ICD10:G24.8|Orphanet:53583|DOID:0090044|SCTID:715564000 owl:Class NCBITaxon:2172821 biolink:NamedThing Multicrustacea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015554 biolink:NamedThing typical urticaria pigmentosa tmpak2llvmy_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158766 owl:Class UBERON:0009640 biolink:NamedThing hypophyseal cartilage forms around the developing pituitary, and together with prechordal cartilages creates body of sphenoid bone tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017981 biolink:NamedThing syngnathia-cleft palate syndrome tmpak2llvmy_mondo_relaxed.owl syngnathia cleft palate GARD:0005091|UMLS:CN204137|Orphanet:3263 owl:Class HGNC:10471 biolink:NamedThing RUNX1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25964 biolink:NamedThing RETREG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007409 biolink:NamedThing cryptomicrotia-brachydactyly-excess fingertip arch syndrome Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988. tmpak2llvmy_mondo_relaxed.owl CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia-brachydactyly syndrome|Tonoki Ohura Niikawa syndrome|Cryptomicrotia brachydactyly syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki-Ohura-Niikawa syndrome Orphanet:1547|ICD10:Q87.8|SCTID:725096002|UMLS:C1852454|GARD:0008174|MESH:C536219|OMIM:123560 owl:Class MONDO:0022989 biolink:NamedThing diomedi bernardi placidi syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001870 https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome owl:Class MONDO:0033366 biolink:NamedThing developmental and epileptic encephalopathy, 57 tmpak2llvmy_mondo_relaxed.owl epileptic encephalopathy, early infantile, 57|EIEE57|DEE57|infantile epileptic encephalopathy 57 DOID:0080284|UMLS:CN633295|OMIM:617771 owl:Class HGNC:1836 biolink:NamedThing CEBPE tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0009000 biolink:NamedThing sensory neuron of spinal nerve A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord. tmpak2llvmy_mondo_relaxed.owl spinal sensory neuron owl:Class MONDO:0016572 biolink:NamedThing central bilateral macrogyria Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. tmpak2llvmy_mondo_relaxed.owl Orphanet:2431|SCTID:720632004|UMLS:C4303949|ICD10:Q04.8 owl:Class MONDO:0012944 biolink:NamedThing chromosome 17P13.3, telomeric, duplication syndrome tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency 3|chromosome 17P13.3, telomeric, duplication syndrome OMIM:612576|UMLS:C2675492|MESH:C567245 owl:Class NCBITaxon:35325 biolink:NamedThing dsRNA viruses tmpak2llvmy_mondo_relaxed.owl dsRNA nonenveloped viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004799 biolink:NamedThing ulcerative blepharitis tmpak2llvmy_mondo_relaxed.owl ICD10:H01.01|DOID:9483|UMLS:C0155173|ICD9:373.01|SCTID:91662004 owl:Class HGNC:13861 biolink:NamedThing LZTS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011743 biolink:NamedThing Alzheimer disease 4 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease type 4|Alzheimer's disease 4|Alzheimer disease, familial, 4|AD4|Ad4|Alzheimer disease type 4|familial Alzheimer disease, type 4|Alzheimer disease familial type 4|Alzheimer disease 4|familial Alzheimer's disease, type 4|Alzheimer disease, familial4 GARD:0009469|DOID:0110040|OMIM:606889|UMLS:C1847200|NCIT:C123413|MESH:C536596 owl:Class MONDO:0015991 biolink:NamedThing citrullinemia Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). tmpak2llvmy_mondo_relaxed.owl deficiency of citrulline-aspartate ligase|ass deficiency MESH:D020159|NCIT:C84639|UMLS:C0175683|Orphanet:187|ICD10:E72.2|SCTID:124711003|ICD10:E72.23|DOID:9273 owl:Class MONDO:0019309 biolink:NamedThing late-onset junctional epidermolysis bullosa Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. tmpak2llvmy_mondo_relaxed.owl EB progressive|JEB-lo SCTID:719432000|UMLS:CN205949|ICD10:Q81.8|UMLS:C4304724|GARD:0012921|Orphanet:79406 https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa owl:Class HGNC:17116 biolink:NamedThing CATSPER1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016591 biolink:NamedThing sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. tmpak2llvmy_mondo_relaxed.owl SAOA|idiopathic late-onset cerebellar ataxia Orphanet:247234|SCTID:734023003 owl:Class MONDO:0016592 biolink:NamedThing non-hereditary degenerative ataxia tmpak2llvmy_mondo_relaxed.owl Orphanet:247239 owl:Class MONDO:0012261 biolink:NamedThing autism, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, 6|AUTS6 OMIM:609378|UMLS:C1836271 owl:Class MONDO:0007520 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. tmpak2llvmy_mondo_relaxed.owl EEC syndrome 1|EEC|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|EEC1 MESH:C565062|ICD10:Q82.4|DOID:0060784|OMIM:129900 owl:Class MONDO:0001320 biolink:NamedThing ring staphyloma tmpak2llvmy_mondo_relaxed.owl DOID:11594|SCTID:5299007|UMLS:C0155363|ICD9:379.15|ICD10:H15.85 Editor note: consider placing in HPO owl:Class MONDO:0003918 biolink:NamedThing angiomatous meningioma A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. tmpak2llvmy_mondo_relaxed.owl angiomatous meningioma (morphologic abnormality) NCIT:C4332|UMLS:C0334608|EFO:1000086|DOID:6548|ICDO:9534/0 owl:Class MONDO:0013012 biolink:NamedThing inflammatory bowel disease 27 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 tmpak2llvmy_mondo_relaxed.owl IBD27|inflammatory bowel disease 27|inflammatory bowel disease type 27 OMIM:612796|MESH:C567559|UMLS:C2748550|DOID:0110902 owl:Class MONDO:0007400 biolink:NamedThing Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. tmpak2llvmy_mondo_relaxed.owl craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|Jackson-Weiss syndrome|craniosynostosis, midfacial hypoplasia, and foot abnormalities|JWS GARD:0006796|Orphanet:1540|ICD9:759.89|NCIT:C123814|ICD10:Q87.8|SCTID:709105005|MESH:C537559|DOID:0111337|OMIM:123150|UMLS:C0795998 https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome owl:Class HGNC:8086 biolink:NamedThing OAS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004374 biolink:NamedThing adult extraskeletal osteosarcoma An osteosarcoma arising from the soft tissue, and occurring in adults. tmpak2llvmy_mondo_relaxed.owl adult extraskeletal osteosarcoma|extraosseous osteosarcoma of adults|adult extraosseous osteosarcoma|extraskeletal osteosarcoma NCIT:C7925|DOID:7827|UMLS:C0278985 owl:Class MONDO:0010082 biolink:NamedThing subaortic stenosis-short stature syndrome tmpak2llvmy_mondo_relaxed.owl subaortic stenosis short stature syndrome|subaortic stenosis--short stature syndrome|Onat syndrome Orphanet:3191|OMIM:271960|UMLS:C0795947|GARD:0000405|MESH:C537749 https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome owl:Class MONDO:0022567 biolink:NamedThing bhaskar jagannathan syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:C2930901|MESH:C535437 owl:Class NCBITaxon:29031 biolink:NamedThing Phlebotomus papatasi tmpak2llvmy_mondo_relaxed.owl Phlebotomus (Phlebotomus) papatasi|Phlebotomus papatasii GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004165 biolink:NamedThing selective IgD deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. tmpak2llvmy_mondo_relaxed.owl selective IgD immunodeficiency|selective immunoglobulin D deficiency ICD9:279.03|DOID:7263|UMLS:C0398695|NCIT:C27144|SCTID:234541006 owl:Class MONDO:0017691 biolink:NamedThing erythrocyte galactose epimerase deficiency tmpak2llvmy_mondo_relaxed.owl erythrocyte GALE deficiency|erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte GALE-D|erythrocyte epimerase deficiency galactosemia|erythrocyte UDP-galactose-4-epimerase deficiency Orphanet:308473|UMLS:C0574090|ICD10:E74.2|SCTID:297238008 owl:Class MONDO:0008141 biolink:NamedThing ossicular malformations, familial tmpak2llvmy_mondo_relaxed.owl ossicular malformations, familial|familial ossicular malformations|familial middle ear ossicular anomalies MESH:C537142|OMIM:165680|UMLS:C1833790|GARD:0008184 https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial owl:Class NCBITaxon:1963758 biolink:NamedThing Myomorpha tmpak2llvmy_mondo_relaxed.owl mice and others|Sciurognathi GC_ID:1 ncbi_taxonomy owl:Class HGNC:9535 biolink:NamedThing PSMA6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014834 biolink:NamedThing dyskinesia, limb and orofacial, infantile-onset tmpak2llvmy_mondo_relaxed.owl dyskinesia, limb and orofacial, infantile-onset|IOLOD|dyskinesia, limb and orofacial, infantile-onset; IOLOD UMLS:C4310792|OMIM:616921 owl:Class MONDO:0006635 biolink:NamedThing Acinetobacter infectious disease Infections with bacteria of the genus acinetobacter. tmpak2llvmy_mondo_relaxed.owl infection, Acinetobacter|Mimae infections|Acinetobacter caused disease or disorder|infections, Acinetobacter|Mimae infection|infections, Mimae|Acinetobacter infection|infection, Mimae|Acinetobacter disease or disorder DOID:3091|MESH:D000151|EFO:1000792|UMLS:C0001139 owl:Class MONDO:0016430 biolink:NamedThing Balo concentric sclerosis Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. tmpak2llvmy_mondo_relaxed.owl Baló concentric sclerosis|Balo's concentric sclerosis|Marburg variant|Balo concentric sclerosis|diffuse cerebral sclerosis of Schilder|Balo disease|Tumefactive multiple sclerosis|Balo's disease|concentric demyelination|encephalitis periaxialis concentrica GARD:0005885|ICD10:G37.0|MedDRA:10010252|UMLS:C0004712|DOID:0060215|ICD10:G37.5|Orphanet:228165|ICD9:341.1|ICD10:G31.81|SCTID:230380005 https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis owl:Class MONDO:0018498 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect tmpak2llvmy_mondo_relaxed.owl DORV with subaortic or doubly committed VSD Orphanet:423693|ICD10:Q20.1 owl:Class HP:0000421 biolink:NamedThing Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. tmpak2llvmy_mondo_relaxed.owl Nose bleed|Nasal haemorrhage|Nasal hemorrhage|Frequent nosebleeds|Nosebleed|Nose bleeding|Bloody nose MSH:D004844|ICD9:784.7|ICD10:R04.0|SNOMEDCT_US:12441001|EFO:0003895|SNOMEDCT_US:249366005|NCIT:C26766|COHD:318556|UMLS:C0014591 human_phenotype owl:Class HGNC:5959 biolink:NamedThing ELP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012778 biolink:NamedThing celiac disease, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl celiac disease, susceptibility to, 9|CELIAC9|gluten-sensitive enteropathy, susceptibility to, 9 OMIM:612007 owl:Class MONDO:0011389 biolink:NamedThing autosomal dominant nonsyndromic deafness 16 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 16|DFNA16|deafness, autosomal dominant 16|autosomal dominant nonsyndromic deafness type 16 ICD10:H90.3|OMIM:603964|UMLS:C1858916|DOID:0110547|MESH:C565832 owl:Class MONDO:0031007 biolink:NamedThing spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis tmpak2llvmy_mondo_relaxed.owl SHILCA|SHILCA Syndrome OMIM:619260 owl:Class HGNC:17185 biolink:NamedThing ASB10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017479 biolink:NamedThing amelia of upper limb, bilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q71.0|Orphanet:295055 owl:Class MONDO:0022103 biolink:NamedThing chronic prostatitis An infectious or non-infectious chronic inflammatory process that affects the prostate gland. tmpak2llvmy_mondo_relaxed.owl Chronic Prostatitis|Chronic prostatitis|chronic prostatitis SCTID:19905009|ICD9:601.1|NCIT:C26930|UMLS:C0085696 owl:Class MONDO:0001588 biolink:NamedThing chronic lacrimal gland enlargement tmpak2llvmy_mondo_relaxed.owl chronic enlargement of lacrimal gland SCTID:4839005|DOID:12809|ICD9:375.03|ICD10:H04.03|UMLS:C1300133 owl:Class MONDO:0032567 biolink:NamedThing isolated growth hormone deficiency, type 4 tmpak2llvmy_mondo_relaxed.owl Isolated Growth Hormone Deficiency, Type Ib, Formerly|Isolated Growth Hormone Deficiency, Type Ib|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV|Dwarfism of Sindh|IGHD4 OMIM:618157 owl:Class GO:0044877 biolink:NamedThing protein-containing complex binding Binding to a macromolecular complex. tmpak2llvmy_mondo_relaxed.owl protein complex binding|macromolecular complex binding owl:Class HP:0000632 biolink:NamedThing Lacrimation abnormality Abnormality of tear production. tmpak2llvmy_mondo_relaxed.owl Abnormality of tear production UMLS:C4021801 HP:0000521 human_phenotype owl:Class MONDO:0000901 biolink:NamedThing relapsed/refractory diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. tmpak2llvmy_mondo_relaxed.owl DOID:0080192 owl:Class MONDO:0024227 biolink:NamedThing miliaria pustulosa A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. tmpak2llvmy_mondo_relaxed.owl DOID:0070319|SCTID:26988005 owl:Class MONDO:0013832 biolink:NamedThing keratoconus 8 tmpak2llvmy_mondo_relaxed.owl keratoconus 8|KTCN8 UMLS:C3553307|OMIM:614628 owl:Class MONDO:0004540 biolink:NamedThing epithelioid malignant peripheral nerve sheath tumor A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. tmpak2llvmy_mondo_relaxed.owl malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm|epithelioid MPNST|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor|malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid tumor of peripheral nerve sheath SCTID:404038007|NCIT:C6561|UMLS:C1321427|DOID:8353|EFO:1000245 owl:Class GO:0032990 biolink:NamedThing cell part morphogenesis The process in which the anatomical structures of a cell part are generated and organized. tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:8000009 biolink:NamedThing single layer subset ontology module A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint. tmpak2llvmy_mondo_relaxed.owl ribbon subset single layer ontology module owl:Class MONDO:0011267 biolink:NamedThing intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration tmpak2llvmy_mondo_relaxed.owl Mrst|mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration|intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration UMLS:C1864549|MESH:C566429|OMIM:602685 owl:Class MONDO:0012072 biolink:NamedThing familial partial lipodystrophy, Kobberling type Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl FPLD1|familial partial lipodystrophy type 1|familial partial lipodystrophy, Köbberling type|familial partial lipodystrophy type Köbberling|lipodystrophy, familial partial, type 1|lipodystrophy, familial partial, Kobberling type Orphanet:79084|DOID:0070207|ICD10:E88.1|SCTID:725035001|GARD:0012598|OMIM:608600 owl:Class MONDO:0019465 biolink:NamedThing nodal marginal zone B-cell lymphoma Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. tmpak2llvmy_mondo_relaxed.owl Monocytoid B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymphoma|NMZL|nodal marginal zone B-cell lymph. UMLS:C0855139|DOID:0080211|NCIT:C8863|MedDRA:10029460|ONCOTREE:NMZL|Orphanet:86867|SCTID:277623009|ICD10:C83.0 owl:Class MONDO:0004359 biolink:NamedThing delusional disorder A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). tmpak2llvmy_mondo_relaxed.owl SCTID:48500005|NCIT:C94379|ICD9:297.1|ICD10:F22.0|DOID:778|ICD10:F22 owl:Class MONDO:0013980 biolink:NamedThing palmoplantar keratoderma, punctate type ib tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, punctate type IB|PPKP1B OMIM:614936|UMLS:C3554145 owl:Class MONDO:0018419 biolink:NamedThing autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. tmpak2llvmy_mondo_relaxed.owl SPG67 Orphanet:401820|UMLS:CN226126|SCTID:766767001|ICD10:G11.4 owl:Class MONDO:0018332 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, severe neonatal type tmpak2llvmy_mondo_relaxed.owl glutaric aciduria type 2, severe neonatal type|MAD deficiency, severe neonatal type|MADD, severe neonatal type ICD10:E71.3|Orphanet:394529|UMLS:CN205004 owl:Class MONDO:0019611 biolink:NamedThing TSH-secreting pituitary adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. tmpak2llvmy_mondo_relaxed.owl TSHoma|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing adenoma of pituitary gland|TSH producing adenoma of the pituitary|TSH secreting pituitary adenoma|thyrotrophic adenoma|TSH secreting adenoma of pituitary|TSH-oma|thyroid stimulating hormone secreting adenoma of pituitary|TSH producing adenoma of pituitary gland|TSH secreting adenoma of the pituitary gland|thyroid stimulating hormone producing pituitary adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH-producing adenoma|thyroid stimulating hormone-secreting pituitary adenoma|thyrotropinoma|thyroid stimulating hormone secreting adenoma of pituitary gland|thyroid stimulating hormone secreting adenoma of the pituitary|TSH producing pituitary gland adenoma|thyroid stimulating hormone producing pituitary gland adenoma|thyroid stimulating hormone secreting pituitary adenoma|thyroid stimulating hormone secreting pituitary gland adenoma|thyroid stimulating hormone producing adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of the pituitary gland|pituitary thyrotrophic adenoma|thyroid stimulating hormone-producing adenoma|TSH secreting pituitary gland adenoma|TSH producing adenoma of pituitary|TSH secreting adenoma of pituitary gland|thyrotroph adenoma|thyroid stimulating hormone producing adenoma of pituitary|TSH-producing pituitary gland adenoma|TSH producing pituitary adenoma|TSH producing adenoma of the pituitary gland|thyrotropin producing pituitary gland adenoma|thyrotrope adenoma UMLS:C0346303|Orphanet:91347|ICD10:D35.2|NCIT:C8011 owl:Class MONDO:0041806 biolink:NamedThing drug-resistant tuberculosis tmpak2llvmy_mondo_relaxed.owl drug resistant tuberculosis SCTID:423709000 owl:Class HGNC:11594 biolink:NamedThing TBX15 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001921 biolink:NamedThing chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. tmpak2llvmy_mondo_relaxed.owl chronic atticoantral suppurative otitis media DOID:14248|ICD9:382.2|ICD10:H66.2|UMLS:C0155441|SCTID:267759006|ICD10:H66.20|UMLS:C0565831 owl:Class MONDO:0002526 biolink:NamedThing dermal unilateral segmental cavernous angioma tmpak2llvmy_mondo_relaxed.owl unilateral segmental cavernous hemangioma|unilateral segmental cavernous hemangioma of the skin UMLS:C0474966|DOID:3148 owl:Class MONDO:0012800 biolink:NamedThing trichoepithelioma, multiple familial, 2 tmpak2llvmy_mondo_relaxed.owl trichoepithelioma multiple familial 2|Mft2|trichoepithelioma, multiple familial, type 2|multiple familial trichoepithelioma 2|trichoepithelioma, multiple familial, 2 GARD:0010373|UMLS:C2677505|MESH:C567418|OMIM:612099 https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 owl:Class MONDO:0006534 biolink:NamedThing cholinergic urticaria A type of physical urticarias (or hives) that appears when a person is sweating. tmpak2llvmy_mondo_relaxed.owl Wikipedia:Cholinergic_urticaria|SCTID:73098005|UMLS:C0152230|EFO:1000679|ICD10:L50.5|ICD9:708.5|DOID:14443 owl:Class NCBITaxon:1783257 biolink:NamedThing PVC group tmpak2llvmy_mondo_relaxed.owl PMID:16704931|GC_ID:11|PMID:23851394|PMID:24185849 NCBITaxon:51290 ncbi_taxonomy owl:Class MONDO:0015430 biolink:NamedThing ring chromosome 1 Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. tmpak2llvmy_mondo_relaxed.owl Ring chromosome 1 syndrome|Ring chromosome type 1|chromosome 1, ring|r(1) syndrome|chromosome 1 ring|Ring 1|R1 GARD:0001320|NCIT:C36474|SCTID:47017007|Orphanet:1437|MESH:C535361|UMLS:CN036412|ICD10:Q93.2|GTR:AN0102272 owl:Class HGNC:8806 biolink:NamedThing PDHA1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:56210 biolink:NamedThing Calomys callosus tmpak2llvmy_mondo_relaxed.owl large vesper mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009890 biolink:NamedThing Gillessen-Kaesbach-Nishimura syndrome tmpak2llvmy_mondo_relaxed.owl GIKANIS|Gillessen-Kaesbach-Nishimura syndrome|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia UMLS:C1849762|MESH:C564881|OMIM:263210 owl:Class HGNC:9076 biolink:NamedThing PLIN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004100 biolink:NamedThing lung mixed small cell and squamous cell carcinoma A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. tmpak2llvmy_mondo_relaxed.owl combined small cell and squamous cell lung carcinoma|small cell and large cell carcinoma of the lung|small cell and squamous cell carcinoma of the lung|mixed small cell and squamous cell carcinoma of lung|mixed small cell and squamous cell carcinoma of the lung|small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung UMLS:C1334788|NCIT:C9423|DOID:7081 owl:Class MONDO:0004102 biolink:NamedThing columnar cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. tmpak2llvmy_mondo_relaxed.owl columnar cell variant papillary thyroid gland carcinoma|columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary carcinoma UMLS:C1333120|ICDO:8344/3|NCIT:C35830|DOID:7088 owl:Class MONDO:0007071 biolink:NamedThing adrenocortical hypofunction, chronic primary congenital tmpak2llvmy_mondo_relaxed.owl adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital SCTID:12427005|OMIM:103230|MESH:C562711|ICD9:255.41|UMLS:C0271740 owl:Class MONDO:0017093 biolink:NamedThing unilateral focal polymicrogyria Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. tmpak2llvmy_mondo_relaxed.owl Orphanet:268947|ICD10:Q04.3 owl:Class MONDO:0012958 biolink:NamedThing multiple sclerosis, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl MS4|multiple sclerosis, susceptibility to, 4 OMIM:612596 owl:Class HGNC:436 biolink:NamedThing ALOX5AP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004200 biolink:NamedThing superficial urinary bladder carcinoma A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade. tmpak2llvmy_mondo_relaxed.owl superficial urinary bladder carcinoma|superficial urinary bladder cancer|superficial bladder cancer|superficial bladder carcinoma UMLS:C1336527|NCIT:C27474|DOID:7371|SCTID:425231005 owl:Class HP:0000759 biolink:NamedThing Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). tmpak2llvmy_mondo_relaxed.owl Abnormal peripheral nervous system structure|Peripheral nervous system disease SNOMEDCT_US:42658009|UMLS:C0031117|SNOMEDCT_US:302226006|MSH:D010523|UMLS:C4025831 The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. HP:0003483 human_phenotype owl:Class MONDO:0012671 biolink:NamedThing tremor, hereditary essential, 3 tmpak2llvmy_mondo_relaxed.owl tremor, hereditary essential, 3|ETM3 UMLS:C1969617|DOID:0111430|OMIM:611456|MESH:C566949 owl:Class MONDO:0017830 biolink:NamedThing severe Canavan disease Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. tmpak2llvmy_mondo_relaxed.owl neonatal Canavan disease|infantile Canavan disease Orphanet:314911|UMLS:CN203803|ICD10:E75.2 owl:Class MONDO:0020315 biolink:NamedThing unclassified myelodysplastic syndrome Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. tmpak2llvmy_mondo_relaxed.owl 2022-01-01 Orphanet:98827|UMLS:CN207136|ICD10:D46.7 Reason: out of scope. Term to consider: MONDO_0019453. MONDO:0019453 owl:Class MONDO:0032908 biolink:NamedThing CEBALID syndrome tmpak2llvmy_mondo_relaxed.owl CEBALID SYNDROME|CEBALID|MN1 C-terminal truncation syndrome|MCTT|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development OMIM:618774 owl:Class MONDO:0011198 biolink:NamedThing spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. tmpak2llvmy_mondo_relaxed.owl metaphyseal anadysplasia 1|spondyloepimetaphyseal dysplasia type 2|SEMD, Missouri type|SEMD type 2|Missouri type of spondyloepimetaphyseal dysplasia|SEMD Missouri type|spondyloepimetaphyseal dysplasia Missouri type|spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356|SCTID:719171005|OMIM:602111|DOID:0080030|GARD:0010618|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type owl:Class MONDO:0022453 biolink:NamedThing angiomyomatous hamartoma An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node. tmpak2llvmy_mondo_relaxed.owl GARD:0008313|UMLS:C2959445 https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma owl:Class MONDO:0022854 biolink:NamedThing congenital unilateral pulmonary hypoplasia tmpak2llvmy_mondo_relaxed.owl GARD:0001507 https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia owl:Class MONDO:0012814 biolink:NamedThing diastasis recti and weakness of the linea alba tmpak2llvmy_mondo_relaxed.owl diastasis recti and weakness of the linea alba MESH:C567402|UMLS:C2677303|OMIM:612198 owl:Class MONDO:0008241 biolink:NamedThing phosphoglycoprotein 1 tmpak2llvmy_mondo_relaxed.owl phosphoglycoprotein 1|phosphoglycoprotein type 1|PGP1 OMIM:172290 owl:Class MONDO:0010661 biolink:NamedThing severe X-linked intellectual disability, Gustavson type Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. tmpak2llvmy_mondo_relaxed.owl X-linked mental retardation Gustavson type|X-linked intellectual disability Gustavson type|gust|intellectual disability X-linked severe Gustavson type|intellectual disability with optic atrophy, deafness, and seizures|mental retardation X-linked severe Gustavson type|Gustavson syndrome|mental retardation with optic atrophy, deafness, and seizures SCTID:722213009|OMIM:309555|UMLS:C0795965|MESH:C536759|Orphanet:3078|GARD:0005611|ICD10:F72.9 owl:Class MONDO:0002870 biolink:NamedThing tricuspid valve insufficiency The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. tmpak2llvmy_mondo_relaxed.owl insufficiency, tricuspid|tricuspid valve regurgitation|tricuspid incompetence|tricuspid insufficiency|tricuspid regurgitation SCTID:111287006|UMLS:C0040961|DOID:4080|NCIT:C50842|MESH:D014262 owl:Class HGNC:17035 biolink:NamedThing EXOSC8 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8143 biolink:NamedThing OPCML tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024525 biolink:NamedThing Fanconi renotubular syndrome 1 tmpak2llvmy_mondo_relaxed.owl Fanconi syndrome without cystinosis|Fanconi renotubular syndrome|renal Fanconi syndrome|Luder-Sheldon syndrome|Fanconi renotubular syndrome 1|adult Fanconi syndrome|FRTS1 OMIM:134600 owl:Class MONDO:0009802 biolink:NamedThing osteodysplasty, precocious, of Danks, Mayne, and Kozlowski tmpak2llvmy_mondo_relaxed.owl osteodysplasty, precocious, of Danks, Mayne, and Kozlowski|osteodysplasty precocious of Danks Mayne and Kozlowski|Danks Mayne Kozlowski precocious osteodysplasty UMLS:C1850185|OMIM:259270|GARD:0008662|MESH:C564922 https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski owl:Class MONDO:0043230 biolink:NamedThing ciguatera fish poisoning Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. tmpak2llvmy_mondo_relaxed.owl toxic effect of ciguatera fish poisoning|Poisonings, ciguatera fish|poisoning, ciguatera|Poisonings, ciguatera|ciguatera fish Poisonings|ciguatera Poisonings|ciguatoxin causing toxic effect|poisoning, ciguatera fish|ciguatera poisoning|ciguatera|ciguatera fish poisoning SCTID:241774007|GARD:0006113|MESH:D036841 owl:Class HGNC:8527 biolink:NamedThing OXCT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006033 biolink:NamedThing diffuse intrinsic pontine glioma A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis. tmpak2llvmy_mondo_relaxed.owl infiltrative brainstem glioma|DIPG EFO:1000026|UMLS:C2986658|NCIT:C94764|GARD:0013075|Orphanet:497188|ONCOTREE:DIPG https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma owl:Class MONDO:0016421 biolink:NamedThing toxic oil syndrome Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. tmpak2llvmy_mondo_relaxed.owl MedDRA:10051222|Orphanet:227972|SCTID:239910001 owl:Class MONDO:0011191 biolink:NamedThing capillary infantile hemangioma tmpak2llvmy_mondo_relaxed.owl hemangioma, hereditary capillary|hemangioma, capillary infantile|HCI UMLS:C1865871|Orphanet:91415|OMIM:602089|MESH:C535860 Editor note: consider merging or making class explicitly for inherited forms. Note also Orphanet equiv is obsolete owl:Class MONDO:0044683 biolink:NamedThing limbic encephalitis with neurexin-3 antibodies tmpak2llvmy_mondo_relaxed.owl Orphanet:498700 owl:Class HGNC:26392 biolink:NamedThing PTCHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8512 biolink:NamedThing OTC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003088 biolink:NamedThing intramuscular hemangioma A hemangioma arising from skeletal muscle. tmpak2llvmy_mondo_relaxed.owl intramuscular hemangioma (morphologic abnormality)|intramuscular angioma NCIT:C3699|DOID:468|ICDO:9132/0|UMLS:C0205789 owl:Class MONDO:0020505 biolink:NamedThing ravine syndrome Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. tmpak2llvmy_mondo_relaxed.owl progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome Orphanet:99852|ICD10:E75.2|SCTID:715794009|UMLS:CN207401|UMLS:C4275006 owl:Class MONDO:0008549 biolink:NamedThing thoracic dysostosis, isolated tmpak2llvmy_mondo_relaxed.owl thoracic dysostosis, isolated UMLS:C1861204|MESH:C566063|OMIM:187750 owl:Class MONDO:0011825 biolink:NamedThing streptococcus, group A, severity of infection by tmpak2llvmy_mondo_relaxed.owl streptococcus, group A, severity of infection by OMIM:607395 owl:Class MONDO:0015863 biolink:NamedThing polyembryoma Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. tmpak2llvmy_mondo_relaxed.owl gonadal polyembryoma GARD:0009621|NCIT:C66776|Orphanet:180229|UMLS:C0334518 https://rarediseases.info.nih.gov/diseases/9621/polyembryoma owl:Class MONDO:0007992 biolink:NamedThing microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. tmpak2llvmy_mondo_relaxed.owl hereditary microcornea, glaucoma, and absent frontal sinuses|microcornea, glaucoma, and absent frontal sinuses UMLS:C1834935|Orphanet:2536|GARD:0003637|OMIM:156700|ICD10:Q15.8|MESH:C537552 owl:Class GO:1903561 biolink:NamedThing extracellular vesicle Any vesicle that is part of the extracellular region. tmpak2llvmy_mondo_relaxed.owl microparticle owl:Class MONDO:0018269 biolink:NamedThing white platelet syndrome White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. tmpak2llvmy_mondo_relaxed.owl platelet granule deficiency disorder SCTID:718553004|UMLS:C2931293|GARD:0009282|ICD10:D69.1|MESH:C536702|Orphanet:370131 Editor note: check relationship to platelet granule deficiency disorder https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome owl:Class MONDO:0007790 biolink:NamedThing Charcot-Marie-Tooth disease type 3 tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 3|CMT3|HMSN 3|HMSN3|DSN|HMSN III|Dejerine-Sottas syndrome|hereditary motor and sensory neuropathy 3|Charcot-Marie-Tooth disease type 3|hereditary motor and sensory neuropathy type III|hereditary motor and sensory neuropathy type 3|Dejerine-Sottas neuropathy|hypertrophic neuropathy of Dejerine-Sottas|hypertrophic neuropathy of infancy DOID:0050540|OMIM:145900|SCTID:111499002|Orphanet:64748|UMLS:C0011195|NCIT:C133087|GARD:0009204|ICD10:G60.0 Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit owl:Class MONDO:0032739 biolink:NamedThing spermatogenic failure 36 tmpak2llvmy_mondo_relaxed.owl SPERMATOGENIC FAILURE 36|SPGF36 OMIM:618420 owl:Class HGNC:1540 biolink:NamedThing SERPINA6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018462 biolink:NamedThing Angelman syndrome due to imprinting defect in 15q11-q13 tmpak2llvmy_mondo_relaxed.owl Orphanet:411515|UMLS:CN237442|ICD10:Q93.5 owl:Class HGNC:6139 biolink:NamedThing ITGA3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020520 biolink:NamedThing adult pulmonary Langerhans cell histiocytosis Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. tmpak2llvmy_mondo_relaxed.owl PLCH|pulmonary Langerhans cell histiocytosis|pulmonary eosinophilic granuloma|pulmonary histiocytosis X ICD10:J84.82|ICD10:C96.5|NCIT:C142833|UMLS:C3161104|SCTID:328611000119105|UMLS:C1455705|Orphanet:99874 owl:Class MONDO:0009855 biolink:NamedThing d-bifunctional protein deficiency A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. tmpak2llvmy_mondo_relaxed.owl multifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase 4 deficiency|D-bifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase IV deficiency|d-bifunctional protein deficiency|DBP deficiency|HSD17B4 deficiency|Pbfe deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|bifunctional enzyme deficiency|peroxisomal bifunctional enzyme deficiency|pseudo-Zellweger syndrome|peroxisomal multifunctional enzyme deficiency ICD10:E71.3|DOID:0090031|Orphanet:300|ICD9:277.6|NCIT:C119676|UMLS:CN203333|UMLS:C1533628|SCTID:238068007|OMIM:261515|UMLS:C0342870|GARD:0004539 https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HP:0045058 biolink:NamedThing Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). tmpak2llvmy_mondo_relaxed.owl UMLS:C4073180 human_phenotype owl:Class NCBITaxon:70426 biolink:NamedThing Oxyuridomorpha tmpak2llvmy_mondo_relaxed.owl Oxyurida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008957 biolink:NamedThing cervical vertebrae, agenesis of tmpak2llvmy_mondo_relaxed.owl cervical vertebrae, agenesis of OMIM:214290|MESH:C562952 owl:Class MONDO:0004771 biolink:NamedThing Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. tmpak2llvmy_mondo_relaxed.owl Fuch's heterochromic iridocyclitis|Fuchs uveitis syndrome|Fuchs' heterochromic cyclitis DOID:9375|UMLS:C0016782|ICD10:H20.81|ICD9:364.21|SCTID:11226001 owl:Class CHEBI:35856 biolink:NamedThing lipoxygenase inhibitor A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes. tmpak2llvmy_mondo_relaxed.owl lipooxygenase inhibitor|lipoxygenase inhibitors owl:Class MONDO:0018793 biolink:NamedThing primary condylar hyperplasia tmpak2llvmy_mondo_relaxed.owl type 1 condylar hyperplasia Orphanet:477781 owl:Class HP:0025426 biolink:NamedThing Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. tmpak2llvmy_mondo_relaxed.owl Abnormality of the bronchi 2017-04-23 12:50:43+00:00 HPO:probinson HP:0002109 human_phenotype owl:Class MONDO:0008622 biolink:NamedThing tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. tmpak2llvmy_mondo_relaxed.owl Bork Stender Schmidt syndrome|Bork syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly SCTID:719910004|Orphanet:1264|GARD:0000938|UMLS:C1860605|ICD10:Q82.4|OMIM:191482|MESH:C536576 owl:Class MONDO:0007860 biolink:NamedThing focal palmoplantar and gingival keratoderma Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. tmpak2llvmy_mondo_relaxed.owl focal palmoplantar and gingival hyperkeratosis syndrome|focal palmoplantar and gingival hyperkeratosis|keratosis focal palmoplantar gingival|focal palmoplantar and oral mucosa hyperkeratosis|keratosis, focal palmoplantar and gingival GARD:0003098|SCTID:764963007|Orphanet:2200|ICD10:Q82.8|OMIM:148730|UMLS:C1835650|MESH:C536157 https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma owl:Class MONDO:0006982 biolink:NamedThing subacute thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. tmpak2llvmy_mondo_relaxed.owl giant-cell thyroiditis|Subacute granulomatous thyroiditis|De Quervain's thyroiditis|Subacute thyroiditis|De Quervain thyroiditis|granulomatous thyroiditis|de Quervain's thyroiditis|DeQuervain thyroiditis DOID:7165|MESH:D013968|ICD9:245.1|SCTID:428041004|NCIT:C35828|MedDRA:10042298|ICD10:E06.1|UMLS:C0040149|EFO:1001194 owl:Class MONDO:0010796 biolink:NamedThing Parkinson disease, mitochondrial tmpak2llvmy_mondo_relaxed.owl Parkinson disease, mitochondrial UMLS:C1838867|OMIM:556500|MESH:C564015 owl:Class MONDO:0012641 biolink:NamedThing restless legs syndrome, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl RLS5|RLS 5|restless legs syndrome, susceptibility to, 5 GARD:0010272|OMIM:611242 owl:Class MONDO:0019509 biolink:NamedThing cutaneous leukocytoclastic angiitis Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. tmpak2llvmy_mondo_relaxed.owl hypersensitivity angiitis|cutaneous leukocytoclastic vasculitis|cutaneous small vessel vasculitis|cutaneous small-vessel vasculitis|cutaneous hypersensitivity vasculitis|leukocytoclastic angiitis NCIT:C122919|ICD10:M31.0|SCTID:718217000|GARD:0007851|Orphanet:889 owl:Class MONDO:0015354 biolink:NamedThing hereditary sensory and autonomic neuropathy with deafness and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. tmpak2llvmy_mondo_relaxed.owl HSAN with deafness and global delay SCTID:717826009|ICD10:G60.8|UMLS:CN226662|Orphanet:139573|UMLS:C4303566 owl:Class MONDO:0003614 biolink:NamedThing intravenous leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. tmpak2llvmy_mondo_relaxed.owl intravenous leiomyomatosis GARD:0010802|DOID:5729|ICD9:238.1|NCIT:C4518|UMLS:C0346200|SCTID:254883003 https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis owl:Class MONDO:0032703 biolink:NamedThing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis tmpak2llvmy_mondo_relaxed.owl SSASKS|SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM:618363 owl:Class ENVO:01000334 biolink:NamedThing talus slope A talus slope is a slope which has a surface layer composed of scree. tmpak2llvmy_mondo_relaxed.owl scree slope owl:Class MONDO:0043994 biolink:NamedThing acute cholecystitis Acute inflammation of the gallbladder. tmpak2llvmy_mondo_relaxed.owl acute cholecystitis NCIT:C35152|MESH:D041881|SCTID:65275009 owl:Class NCBITaxon:2732007 biolink:NamedThing Nucleocytoviricota tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001878 biolink:NamedThing acquired hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired gastric outlet stenosis|acquired hypertrophic pyloric stenosis|adult hypertrophic pyloric stenosis SCTID:266438007|ICD9:537.0|DOID:14099|UMLS:C2937286 owl:Class MONDO:0006698 biolink:NamedThing cholecystolithiasis Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. tmpak2llvmy_mondo_relaxed.owl EFO:1000864|UMLS:C0947622|MedDRA:10049890|MESH:D041761|DOID:11151 owl:Class HGNC:16262 biolink:NamedThing YAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019583 biolink:NamedThing localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. tmpak2llvmy_mondo_relaxed.owl Orphanet:90398|ICD10:L98.5 owl:Class CHEBI:15339 biolink:NamedThing acceptor A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. tmpak2llvmy_mondo_relaxed.owl accepteur|Akzeptor|Acceptor|Hydrogen-acceptor|A|Oxidized donor owl:Class HGNC:21144 biolink:NamedThing DSE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011808 biolink:NamedThing cataract 27 A cataract that has material basis in mutation in the region 2p12. tmpak2llvmy_mondo_relaxed.owl CTRCT27|Ccnp|cataract 27 nuclear progressive|cataract 27|cataract 27, nuclear progressive|cataract type 27 UMLS:C1846520|DOID:0110233|MESH:C564596|OMIM:607304|ICD10:Q12.0 owl:Class MONDO:0017478 biolink:NamedThing amelia of upper limb, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295053|ICD10:Q71.0 owl:Class MONDO:0009871 biolink:NamedThing pili torti-developmental delay-neurological abnormalities syndrome Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. tmpak2llvmy_mondo_relaxed.owl pili torti and developmental delay|pili torti developmental delay neurological abnormalities OMIM:261990|MESH:C537398|GARD:0004362|UMLS:C1849811|Orphanet:2891 owl:Class HP:0031064 biolink:NamedThing Impaired continence Partial or total incontinence of bowel or bladder. tmpak2llvmy_mondo_relaxed.owl 2017-05-28 22:29:13+00:00 peter human_phenotype owl:Class MONDO:0011927 biolink:NamedThing tufted angioma Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. tmpak2llvmy_mondo_relaxed.owl tufted angioma of the skin|tufted angioma of skin|angioblastoma of Nakagawa|angioma, tufted|Nakagawa angioblastoma|tufted skin angioma|tufted hemangioma of skin|angioma tufted|tufted hemangioma|tufted angioma (disease)|tufted hemangioma of the skin|tufted angioma tufted angioma (disease) GARD:0000425|Orphanet:1063|SCTID:705155008|OMIM:607859|MESH:C536924|UMLS:C0346073|ICDO:9161/0|ICD10:D18.0|HP:0012329|NCIT:C4487|ICD9:215.9 owl:Class NCBITaxon:1980613 biolink:NamedThing unclassified Bunyavirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023679 biolink:NamedThing hematohidrosis Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting. tmpak2llvmy_mondo_relaxed.owl Hematohidrosis|Hematidrosis GARD:0013131|UMLS:C0473554|ICD9:705.89|ICD10:L74.8|SCTID:238757003 owl:Class MONDO:0010872 biolink:NamedThing parotid salivary glands, polycystic dysgenetic disease of tmpak2llvmy_mondo_relaxed.owl PDDP|parotid salivary glands, polycystic dysgenetic disease OF OMIM:600343 owl:Class CHEBI:76773 biolink:NamedThing EC 3.1.1.* (carboxylic ester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). tmpak2llvmy_mondo_relaxed.owl EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* inhibitors|EC 3.1.1.* inhibitor owl:Class HP:0000050 biolink:NamedThing Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). tmpak2llvmy_mondo_relaxed.owl Hypoplastic male genitalia|Small male external genitalia|Underdeveloped male genitalia UMLS:C1852534 HP:0008710|HP:0008721 human_phenotype owl:Class MONDO:0009877 biolink:NamedThing Laron syndrome Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. tmpak2llvmy_mondo_relaxed.owl Laron-type dwarfism|primary growth hormone insensitivity|Laron type pituitary dwarfism I|complete growth hormone insensitivity|primary GH insensitivity|primary growth hormone resistance|GH receptor deficiency|primary GH resistance|short stature due to growth hormone resistance|Laron syndrome|Laron dwarfism|pituitary dwarfism II|growth hormone insensitivity syndrome|Laron-type isolated somatotropin defect|Growth hormone receptor deficiency|pituitary dwarfism 2 ICD10:E34.3|GARD:0006859|SCTID:38196001|Orphanet:633|OMIM:262500|NCIT:C130994|DOID:9521|MESH:D046150 owl:Class MONDO:0017989 biolink:NamedThing His bundle tachycardia His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. tmpak2llvmy_mondo_relaxed.owl junctional ectopic tachycardia|JET GARD:0002706|UMLS:C0039235|ICD10:I47.1|MESH:D013613|Orphanet:3283|SCTID:233901002|NCIT:C111646|ICD9:427.89 https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia owl:Class MONDO:0011513 biolink:NamedThing Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology tmpak2llvmy_mondo_relaxed.owl Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology OMIM:605055|UMLS:C1857933|MESH:C565728 owl:Class MONDO:0011004 biolink:NamedThing lissencephaly type 3-metacarpal bone dysplasia syndrome This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. tmpak2llvmy_mondo_relaxed.owl lissencephaly type III and bone dysplasia|lissencephaly type 3 and bone dysplasia OMIM:601160|Orphanet:86822|MESH:C563383|ICD10:Q04.3|SCTID:718720007|UMLS:C1832678 owl:Class MONDO:0001690 biolink:NamedThing parasitic conjunctivitis tmpak2llvmy_mondo_relaxed.owl DOID:13341|SCTID:13816006|ICD9:372.15|UMLS:C0155148 owl:Class MONDO:0054727 biolink:NamedThing spermatogenic failure 23 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 23|SPGF23 DOID:0070181|UMLS:C4540185|OMIM:617707 owl:Class CL:0002036 biolink:NamedThing Slamf1-positive multipotent progenitor cell A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. tmpak2llvmy_mondo_relaxed.owl KSL cell Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:35Z cell owl:Class MONDO:0001503 biolink:NamedThing primary eye hypotony tmpak2llvmy_mondo_relaxed.owl primary hypotony of eye ICD10:H44.44|DOID:12349|SCTID:2251002|ICD9:360.31|UMLS:C0154782 owl:Class MONDO:0000243 biolink:NamedThing ectothrix infectious disease A dermatophyte infection of the hair that infects the hair surface. tmpak2llvmy_mondo_relaxed.owl DOID:0050097 owl:Class MONDO:0001457 biolink:NamedThing secondary vitreoretinal degeneration tmpak2llvmy_mondo_relaxed.owl ICD9:362.66|UMLS:C0154859|SCTID:60676002|DOID:12167|ICD10:H35.46 owl:Class NCBITaxon:198624 biolink:NamedThing Dermocystida tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009396 biolink:NamedThing hyperparathyroidism, neonatal self-limited primary, with hypercalciuria tmpak2llvmy_mondo_relaxed.owl hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MESH:C565496|OMIM:239199|UMLS:C1855924 owl:Class HGNC:11573 biolink:NamedThing TAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002313 biolink:NamedThing vernal conjunctivitis Inflammation of the cornea that is seasonal in nature. tmpak2llvmy_mondo_relaxed.owl UMLS:C0009773|ICD9:372.13|NCIT:C34508|SCTID:318316003|DOID:2474|ICD10:H10.44 owl:Class MONDO:0011069 biolink:NamedThing cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction tmpak2llvmy_mondo_relaxed.owl Frydman Cohen Ashkenazi syndrome|cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction MESH:C538072|OMIM:601389|UMLS:C1832391|GARD:0001227 https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction owl:Class HGNC:3267 biolink:NamedThing EIF2S3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000784 biolink:NamedThing melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. tmpak2llvmy_mondo_relaxed.owl Cucumis melo fruit allergy DOID:0060509 owl:Class MONDO:0006466 biolink:NamedThing thyroid gland spindle cell tumor with thymus-like differentiation A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. tmpak2llvmy_mondo_relaxed.owl settle tumor|settle|spindle epithelial tumor with thymus-like differentiation tumor UMLS:C1266099|NCIT:C46105|ICDO:8588/3|EFO:1000593|DOID:0050923 owl:Class UBERON:0037237 biolink:NamedThing wall of lacrimal duct tmpak2llvmy_mondo_relaxed.owl lacrimal ductal wall owl:Class MONDO:0032872 biolink:NamedThing ciliary dyskinesia, primary, 42 tmpak2llvmy_mondo_relaxed.owl CILD42|CILIARY DYSKINESIA, PRIMARY, 42|Ciliary Dyskinesia, Primary, 42, Without Situs Inversus OMIM:618695 owl:Class MONDO:0032668 biolink:NamedThing Diamond-Blackfan anemia 18 tmpak2llvmy_mondo_relaxed.owl DBA18|DIAMOND-BLACKFAN ANEMIA 18 OMIM:618310 owl:Class MONDO:0016466 biolink:NamedThing asbestosis A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. tmpak2llvmy_mondo_relaxed.owl idiopathic interstitial pneumonitis - from asbestos exposure|asbestosis|asbestos intoxication|asbestos pneumoconiosis|asbestos intoxination|asbestos dust pneumoconiosis|pneumoconiosis from asbestos dust|pulmonary fibrosis - from asbestos exposure ICD10:J61|EFO:0007153|MESH:D001195|UMLS:C0003949|SCTID:22607003|Orphanet:2302|DOID:10320|GARD:0005852|NCIT:C84573|ICD9:501|CSP:2596-4484 owl:Class HGNC:6740 biolink:NamedThing LYZ tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18233 biolink:NamedThing BANK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022809 biolink:NamedThing Colver Steer Godman syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001448 https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome owl:Class MONDO:0011407 biolink:NamedThing facial paresis, hereditary congenital, 2 tmpak2llvmy_mondo_relaxed.owl Moebius syndrome 3, formerly|Mobius syndrome 3|Moebius syndrome 3|facial paresis, hereditary congenital, 2|Mobius syndrome 3, formerly|HCFP2 OMIM:604185|UMLS:C1858717 owl:Class MONDO:0003770 biolink:NamedThing thoracic spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the thoracic region of the spinal cord. tmpak2llvmy_mondo_relaxed.owl meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord|thoracic intraspinal meningioma DOID:6103|NCIT:C5297|UMLS:C1336738 owl:Class MONDO:0032930 biolink:NamedThing intellectual developmental disorder with poor growth and with or without seizures or ataxia tmpak2llvmy_mondo_relaxed.owl IDPOGSA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA OMIM:618808 owl:Class MONDO:0007155 biolink:NamedThing arteritis, familial granulomatous, with juvenile polyarthritis tmpak2llvmy_mondo_relaxed.owl arteritis, familial granulomatous, with juvenile polyarthritis OMIM:108050|MESH:C566253|UMLS:C1862510 owl:Class MONDO:0017533 biolink:NamedThing postaxial polydactyly type B, unilateral tmpak2llvmy_mondo_relaxed.owl UMLS:CN203264|Orphanet:295167|ICD10:Q69.0 owl:Class MONDO:0000306 biolink:NamedThing trichosporonosis Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. tmpak2llvmy_mondo_relaxed.owl Trichosporon caused disease or disorder|Trichosporon infectious disease|Trichosporon disease or disorder DOID:0050290|SCTID:240761008|UMLS:C0343939|MESH:D060586 owl:Class MONDO:0011943 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl SLEN2|systemic lupus erythematosus with nephritis, susceptibility to, 2 OMIM:607966 owl:Class MONDO:0008367 biolink:NamedThing red cell phospholipid defect with hemolysis tmpak2llvmy_mondo_relaxed.owl phosphatidylcholine Red cell Membrane disorder|high Red cell phosphatidylcholine hemolytic Anemia|HPCHA|leaky Red cell syndrome|red cell phospholipid defect with hemolysis UMLS:C1867339|MESH:C535298|GARD:0010013|OMIM:179700 https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis owl:Class MONDO:0006677 biolink:NamedThing bile reflux Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. tmpak2llvmy_mondo_relaxed.owl EFO:1000838|UMLS:C0005403|MESH:D001655|DOID:12237 owl:Class MONDO:0017812 biolink:NamedThing segmental progressive overgrowth syndrome with fibroadipose hyperplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:314662|UMLS:CN203781 owl:Class MONDO:0011203 biolink:NamedThing Pierre Robin sequence with pectus excavatum and rib and scapular anomalies tmpak2llvmy_mondo_relaxed.owl Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild OMIM:602196|GARD:0010090|UMLS:C1865783|MESH:C535775 https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies owl:Class MONDO:0008018 biolink:NamedThing Muir-Torre syndrome Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. tmpak2llvmy_mondo_relaxed.owl MRTES|multiple keratoacanthoma, Muir-Torre type|cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|Muir-Torre syndrome|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|MUIR-Torre syndrome ICD10:L72.8|OMIM:158320|UMLS:C1321489|GARD:0006821|SCTID:403824007|MedDRA:10063042|Orphanet:587|MESH:D055653|NCIT:C84905|DOID:0050465 owl:Class MONDO:0002085 biolink:NamedThing benign shuddering attacks tmpak2llvmy_mondo_relaxed.owl DOID:1713|ICD9:333.93|UMLS:C0375200|ICD10:G25.83|SCTID:446995005 owl:Class MONDO:0007488 biolink:NamedThing Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. tmpak2llvmy_mondo_relaxed.owl Senile dementia of the Lewy body type|diffuse Lewy body disease|dementia with Lewy bodies|DLB|Lewy body disease|dementia, Lewy body|Lewy body dementia|Lewy body variant of Alzheimer disease|diffuse Lewy body disease with gaze palsy EFO:0006792|ICD10:G31.83|ICD9:331.82|GARD:0003243|UMLS:C0752347|SCTID:312991009|DOID:12217|NCIT:C84826|OMIM:127750 owl:Class MONDO:0024518 biolink:NamedThing reactive thrombocytosis A thrombocytosis caused by an underlying condition, such as an infection. tmpak2llvmy_mondo_relaxed.owl secondary thrombocytosis UMLS:C0457506|ICD9:286.9|SCTID:234500001 owl:Class MONDO:0003397 biolink:NamedThing gingival hypertrophy Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. tmpak2llvmy_mondo_relaxed.owl hypertrophy of gingivae DOID:5338|UMLS:C0017567|MESH:D005886 owl:Class MONDO:0022096 biolink:NamedThing pyogenic granuloma A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. tmpak2llvmy_mondo_relaxed.owl hemangioma, Lobular Capillary|Granuloma, Pyogenic|Pyogenic granuloma|Pyogenic Granuloma|Granuloma Telangiecticum|angiogranulomas|Lobular capillary hemangioma|Lobular Capillary Hemangioma|Granuloma pyogenicum|Granulation Tissue-Type Hemangioma|Capillary hemangioma of granulation tissue type|Granuloma Pyogenicum|Granuloma telangiectaticum|Capillary Hemangioma, Lobular|PG - Pyogenic granuloma|angiogranuloma|Granulomata Pyogenicum|Lobular Hemangioma|hemangiomatous Granulation Tissue GARD:0010963|MESH:D017789|UMLS:C0085653|SCTID:200722003 owl:Class MONDO:0012384 biolink:NamedThing panic disorder 3 tmpak2llvmy_mondo_relaxed.owl panic disorder susceptibility locus, chromosome 4Q-related|panic disorder 3|Pand3|panic disorder type 3 OMIM:609985|UMLS:C1864946 owl:Class MONDO:0005776 biolink:NamedThing gnathomiasis An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). tmpak2llvmy_mondo_relaxed.owl Gnathostoma infection|Gnathostomiasis|infectious disease by Gnathostoma GARD:0009286|EFO:0007289|ICD9:128.1|MESH:D058429|SCTID:44086001|ICD10:B83.1|NCIT:C128395|UMLS:C0018013|DOID:11379 owl:Class MONDO:0022776 biolink:NamedThing cleft lip and/or palate with mucous cysts of lower tmpak2llvmy_mondo_relaxed.owl GARD:0001372 https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower owl:Class MONDO:0009628 biolink:NamedThing microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. tmpak2llvmy_mondo_relaxed.owl microcolon|microcolon (disease) microcolon (disease) ICD9:751.5|MESH:C562563|SCTID:18389004|HP:0004388|OMIM:251400|NCIT:C98987 owl:Class MONDO:0033618 biolink:NamedThing Vissers-Bodmer syndrome tmpak2llvmy_mondo_relaxed.owl VIBOS OMIM:619033 owl:Class UBERON:0010977 biolink:NamedThing flexor pre-muscle mass tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0042602 biolink:NamedThing Samson-Viljoen syndrome tmpak2llvmy_mondo_relaxed.owl lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia|Samson Viljoen syndrome UMLS:C2931449|MESH:C537231|GARD:0000152 owl:Class MONDO:0007577 biolink:NamedThing esophageal ring, lower tmpak2llvmy_mondo_relaxed.owl esophageal ring, lower ICD9:750.3|MESH:C562765|SCTID:235623002|UMLS:C0341137|OMIM:133240 owl:Class MONDO:0013199 biolink:NamedThing tuberous sclerosis 2 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). tmpak2llvmy_mondo_relaxed.owl tuberous sclerosis type 2|tuberous sclerosis 2|tuberous sclerosis, type 2|TSC2 Angiomyolipomas, renal, modifier of|TSC2 GARD:0005381|NCIT:C75331|OMIM:613254|DOID:0080325 owl:Class MONDO:0007166 biolink:NamedThing ataxia with fasciculations tmpak2llvmy_mondo_relaxed.owl ataxia with fasciculations MESH:C566246|OMIM:108700|UMLS:C1862440 owl:Class MONDO:0007956 biolink:NamedThing Pai syndrome Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. tmpak2llvmy_mondo_relaxed.owl median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa|Pai syndrome|cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa UMLS:C1835087|GARD:0003439|MESH:C536135|ICD10:Q87.8|SCTID:722201004|OMIM:155145|Orphanet:1993 https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa owl:Class MONDO:0011993 biolink:NamedThing aspirin resistance tmpak2llvmy_mondo_relaxed.owl aspirin, resistance to Cardioprotective Effect of|aspirin, resistance to Antithrombotic Effect of|aspirin resistance OMIM:608223 owl:Class MONDO:0022403 biolink:NamedThing Ahumada Del Castillo syndrome A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. tmpak2llvmy_mondo_relaxed.owl nonpuerperal galactorrhe amenorrhea|Argonz Del Castillo syndrome|galactorrhea amenorrhea without pregnancy|amenorrhea galactorrhea FSH decrease syndrome|Argonz Ahumada Del Castillo syndrome GARD:0005763 https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome owl:Class MONDO:0003136 biolink:NamedThing anti-basement membrane glomerulonephritis Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. tmpak2llvmy_mondo_relaxed.owl anti-glomerular basement Membrane antibody disease|anti-GBM antibody disease NCIT:C35798|UMLS:C1332309|DOID:4780 owl:Class MONDO:0001271 biolink:NamedThing lens subluxation A partial dislocation of the lens of the eye. tmpak2llvmy_mondo_relaxed.owl subluxation of lens|lens subluxation|lens subluxation (disease) lens subluxation (disease) ICD10:H27.11|DOID:11364|ICD9:379.32|HP:0001132|UMLS:C0023316|NCIT:C34772|SCTID:65814009|MESH:D007906 owl:Class HGNC:3337 biolink:NamedThing ADGRE2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14889 biolink:NamedThing DNAJB11 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21580 biolink:NamedThing KIAA0319 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012278 biolink:NamedThing supranuclear palsy, progressive, 2 tmpak2llvmy_mondo_relaxed.owl supranuclear palsy, progressive, 2|PSNP2 UMLS:C1836148|MESH:C563717|OMIM:609454 owl:Class MONDO:0007583 biolink:NamedThing exostoses of heel tmpak2llvmy_mondo_relaxed.owl exostoses of heel MESH:C563167|UMLS:C0877431|OMIM:133600 Editor note: consider obsoleting owl:Class MONDO:0014350 biolink:NamedThing Seckel syndrome 8 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. tmpak2llvmy_mondo_relaxed.owl Seckel syndrome type 8|DNA2 Seckel syndrome|SCKL8|Seckel syndrome caused by mutation in DNA2|Seckel syndrome 8 UMLS:C3891452|OMIM:615807|DOID:0070009 owl:Class FOODON:03412345 biolink:NamedThing lichen A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:29169 biolink:NamedThing Ancylostoma tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class BFO:0000027 biolink:NamedThing object aggregate tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0033198 biolink:NamedThing deafness, autosomal recessive 106 tmpak2llvmy_mondo_relaxed.owl DFNB106|deafness, autosomal recessive 106|autosomal recessive nonsyndromic deafness 106 DOID:0080261|OMIM:617637 owl:Class HGNC:15964 biolink:NamedThing DAZ2 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0000834 biolink:NamedThing Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. tmpak2llvmy_mondo_relaxed.owl Adrenal abnormalities|Adrenal gland disease UMLS:C0001621|MSH:D000307|UMLS:C4021794|SNOMEDCT_US:30171000 human_phenotype owl:Class MONDO:0054666 biolink:NamedThing ovarian dysgenesis 5 tmpak2llvmy_mondo_relaxed.owl ODG5|ovarian dysgenesis 5 OMIM:617690|DOID:0080497|UMLS:C4540141 owl:Class MONDO:0003144 biolink:NamedThing medulloepithelioma A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. tmpak2llvmy_mondo_relaxed.owl medulloepithelioma of the central nervous system|Diktyoma, malignant|MDEP|medulloepithelioma, central nervous system|medulloepithelioma NOS (morphologic abnormality)|central nervous system medulloepithelioma DOID:4790|UMLS:C0334596|Orphanet:251883|SCTID:715903004|NCIT:C4327|ONCOTREE:MDEP owl:Class SO:0002072 biolink:NamedThing sequence_comparison A position or feature where two sequences have been compared. tmpak2llvmy_mondo_relaxed.owl sequence comparison|INSDC_note:sequence_comparison|INSDC_feature:misc_feature owl:Class MONDO:0001132 biolink:NamedThing sexual sadism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual. tmpak2llvmy_mondo_relaxed.owl sexual sadism SCTID:59394009|NCIT:C94358|MESH:D012448|ICD10:F65.52|DOID:10817|ICD9:302.84 owl:Class MONDO:0023619 biolink:NamedThing lentigo maligna melanoma Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. tmpak2llvmy_mondo_relaxed.owl LMM|malignant lentigo melanoma|SKLMM|lentigo maligna melanoma|Hutchison melanotic freckle UMLS:C2739810|ICD9:172.8|NCIT:C9151|GARD:0009962|ICDO:8742/3|SCTID:302837001|ONCOTREE:SKLMM https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma owl:Class MONDO:0019205 biolink:NamedThing trichodysplasia-amelogenesis imperfecta syndrome The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl UMLS:CN205796|Orphanet:79129 owl:Class MONDO:0001617 biolink:NamedThing transient global amnesia A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. tmpak2llvmy_mondo_relaxed.owl transient global amnesia (disease)|transient global amnesia transient global amnesia (disease) MESH:D020236|DOID:13027|GARD:0008172|ICD10:G45.4|HP:0010534|NCIT:C85198|ICD9:437.7 owl:Class HGNC:3497 biolink:NamedThing EVC tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18453 biolink:NamedThing NAXE tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014291 biolink:NamedThing autosomal dominant nonsyndromic deafness 54 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 54|DFNA54|autosomal dominant deafness 54|deafness, autosomal dominant 54 ICD10:H90.3|OMIM:615649|DOID:0110580 owl:Class MONDO:0018832 biolink:NamedThing HTRA1-related autosomal dominant cerebral small vessel disease tmpak2llvmy_mondo_relaxed.owl HTRA1-related autosomal dominant cerebral angiopathy Orphanet:482077|UMLS:CN776823 owl:Class GO:0034219 biolink:NamedThing carbohydrate transmembrane transport The process in which a carbohydrate is transported across a membrane. tmpak2llvmy_mondo_relaxed.owl transmembrane carbohydrate transport|carbohydrate membrane transport owl:Class GO:0008643 biolink:NamedThing carbohydrate transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. tmpak2llvmy_mondo_relaxed.owl sugar transport owl:Class HGNC:1241 biolink:NamedThing C1QA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015535 biolink:NamedThing xanthoma disseminatum tmpak2llvmy_mondo_relaxed.owl Montgomery syndrome Orphanet:158003|SCTID:399970005|GARD:0013186|UMLS:C0043322|ICD10:D76.3|MedDRA:10052575 https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum owl:Class MONDO:0032806 biolink:NamedThing trichothiodystrophy 7, nonphotosensitive tmpak2llvmy_mondo_relaxed.owl TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE|TTD7 OMIM:618546 owl:Class MONDO:0003561 biolink:NamedThing malignant giant cell tumor of soft parts An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. tmpak2llvmy_mondo_relaxed.owl giant cell malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|malignant Osteoclastoma|malignant giant cell neoplasm of soft parts|malignant giant cell tumor of soft parts (morphologic abnormality)|malignant giant cell tumor of soft parts|giant cell fibrous histiocytoma ICDO:9251/3|NCIT:C8380|UMLS:C0334554|DOID:5638 owl:Class MONDO:0019549 biolink:NamedThing severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. tmpak2llvmy_mondo_relaxed.owl AR-CMT2, Ouvrier type|autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|SEOAN due to MFN2 deficiency SCTID:766977007|UMLS:CN206378|Orphanet:90118|ICD10:G60.0 owl:Class UBERON:0006349 biolink:NamedThing epigastric artery An external iliac artery branch that supplies blood to the anterior abdominal wall. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017275 biolink:NamedThing spastic paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. tmpak2llvmy_mondo_relaxed.owl Bahemuka-Brown syndrome|Bahemuka Brown syndrome|spastic paraplegia facial cutaneous lesions SCTID:763403007|Orphanet:2819|MESH:C537797|GARD:0000806|UMLS:C2931617 owl:Class MONDO:0020369 biolink:NamedThing Chandler syndrome Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. tmpak2llvmy_mondo_relaxed.owl Chandler's syndrome|endothelial corneal dystrophy|dystrophy of corneal endothelium|posterior membrane corneal dystrophy DOID:11554|ICD10:H18.51|MedDRA:10057487|UMLS:C0544008|ICD10:H21.2|GARD:0006033|Orphanet:98979|ICD9:371.57 owl:Class MONDO:0008544 biolink:NamedThing tetramelic monodactyly Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. tmpak2llvmy_mondo_relaxed.owl tetramelic monodactyly|Sommer Hines syndrome|Sommer-Hines syndrome|tetramelic monodactyly with autosomal dominant inheritance ICD10:Q73.8|MESH:C566066|Orphanet:2564|OMIM:187510|UMLS:C1861233|GARD:0003707 https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly owl:Class MONDO:0018979 biolink:NamedThing multifocal motor neuropathy Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. tmpak2llvmy_mondo_relaxed.owl multifocal motor neuropathy with conduction block|MMN|MMNCB ICD9:357.89|GARD:0011011|SCTID:230591002|UMLS:C0393847|ICD10:G61.82|ICD10:G61.8|Orphanet:641 https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy owl:Class MONDO:0024864 biolink:NamedThing medium/large size posterior uveal melanoma tmpak2llvmy_mondo_relaxed.owl medium/large size posterior uveal melanoma NCIT:C9090|UMLS:C0278868 owl:Class MONDO:0001559 biolink:NamedThing perineocele tmpak2llvmy_mondo_relaxed.owl ICD10:N81.81|ICD9:618.05|DOID:12637 owl:Class MONDO:0018566 biolink:NamedThing short stature-advanced bone age-early-onset osteoarthritis syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN237575|Orphanet:435804|ICD10:M89.8 owl:Class MONDO:0013508 biolink:NamedThing myopia 19, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP19|myopia 19, autosomal dominant OMIM:613969|UMLS:C3151410 owl:Class HGNC:2671 biolink:NamedThing DAO tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013237 biolink:NamedThing susceptibility to mononeuropathy of the median nerve, mild tmpak2llvmy_mondo_relaxed.owl mononeuropathy of the median nerve, mild|MNMN|carpal tunnel syndrome, susceptibility to UMLS:C3150596|OMIM:613353 owl:Class MONDO:0012226 biolink:NamedThing febrile seizures, familial, 5 tmpak2llvmy_mondo_relaxed.owl FEB5|convulsions, familial febrile, 5|febrile seizures, familial, 5 UMLS:C1836507|MESH:C563762|DOID:0111306|OMIM:609255 owl:Class MONDO:0017921 biolink:NamedThing hearing loss-familial salivary gland insensitivity to aldosterone syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. tmpak2llvmy_mondo_relaxed.owl Tunglang savage Bellman syndrome|Tungland-Bellman syndrome|hearing loss insensitivity to aldosterone|hearing loss and familial salivary gland insensitivity to aldosterone SCTID:716239006|MESH:C536927|GARD:0000422|Orphanet:3225 owl:Class HGNC:10727 biolink:NamedThing SEMA3E tmpak2llvmy_mondo_relaxed.owl owl:Class FOODON:03414466 biolink:NamedThing tunicate Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:9359 biolink:NamedThing SLC26A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001692 biolink:NamedThing pedophilia A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children. tmpak2llvmy_mondo_relaxed.owl Paedophilia ICD10:F65.4|DOID:13351|SCTID:84002002|NCIT:C94355|MESH:D010378|ICD9:302.2 owl:Class CL:0000432 biolink:NamedThing reticular cell Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. tmpak2llvmy_mondo_relaxed.owl reticulum cell FMA:62877 cell owl:Class MONDO:0033201 biolink:NamedThing deafness, autosomal recessive 57 tmpak2llvmy_mondo_relaxed.owl DFNB57|deafness, autosomal recessive 57 UMLS:CN248511|OMIM:618003|DOID:0111635 owl:Class MONDO:0015833 biolink:NamedThing pseudounicornuate uterus Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. tmpak2llvmy_mondo_relaxed.owl incomplete unilateral aplasia of the Müllerian ducts|incomplete unilateral Müllerian aplasia|incomplete unilateral aplasia of the Mullerian ducts|unicornuate uterus with rudimentary horn|incomplete unilateral Mullerian aplasia ICD10:Q51.4|Orphanet:180079 owl:Class MONDO:0006412 biolink:NamedThing sinus histiocytosis with massive lymphadenopathy A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. tmpak2llvmy_mondo_relaxed.owl RDD|Rosai-Dorfman disease ICD9:277.89|MESH:D015618|GARD:0007588|EFO:1000528|SCTID:34287003|NCIT:C36075 owl:Class MONDO:0009017 biolink:NamedThing corneal degeneration, band-shaped spheroid tmpak2llvmy_mondo_relaxed.owl corneal degeneration, band-shaped spheroid OMIM:217520 owl:Class PATO:0002143 biolink:NamedThing sloped downward tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001481 biolink:NamedThing sloped A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022401 biolink:NamedThing agyria pachygyria polymicrogyria Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. tmpak2llvmy_mondo_relaxed.owl GARD:0000572 https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria owl:Class MONDO:0024264 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 2 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. tmpak2llvmy_mondo_relaxed.owl hypothyroidism, congenital, nongoitrous, 2|thyrotropin resistance|hypothyroidism, athyreotic|thyroid agenesis|thyroid dysgenesis|CHNG2|resistance to thyrotropin|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|athyreotic hypothyroidism|thyroid hypoplasia|hypothyroidism, congenital, due to thyroid dysgenesis|congenital nongoitrous hypothyroidism 2|thyroid, ectopic|congenital nongoitrous hypothryoidism 2 OMIM:218700|ICD10:E03.1|DOID:0070124 owl:Class HGNC:8101 biolink:NamedThing OCA2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0041186 biolink:NamedThing Rowell syndrome A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. tmpak2llvmy_mondo_relaxed.owl lupus erythematosus and erythema multiforme-like syndrome|Rowell's syndrome SCTID:238926009|UMLS:C0406637 owl:Class MONDO:0011606 biolink:NamedThing baby rattle pelvis dysplasia tmpak2llvmy_mondo_relaxed.owl baby rattle pelvis dysplasia|baby rattle pelvic dysplasia OMIM:605838|MESH:C537794|GARD:0009289|UMLS:C1853911|MESH:C565282 https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia owl:Class HGNC:4012 biolink:NamedThing FUT1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006369 biolink:NamedThing pineal parenchymal tumor of intermediate differentiation A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl pineal parenchymal tumor of intermediate differentiation|pineal parenchymal tumour of intermediate differentiation|pineal parenchymal tumors of intermediate differentiation|PPTID|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) EFO:1000474|GARD:0010644|NCIT:C6967|SCTID:715904005|ONCOTREE:PPTID|UMLS:C1367859|DOID:5030 owl:Class MONDO:0009695 biolink:NamedThing myeloproliferative disease, autosomal recessive tmpak2llvmy_mondo_relaxed.owl myeloproliferative disease, autosomal recessive MESH:C564977|OMIM:254700|UMLS:C1850779 owl:Class MONDO:0023551 biolink:NamedThing C1q nephropathy C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. tmpak2llvmy_mondo_relaxed.owl C1q nephropathy GARD:0012136|UMLS:C0403434|SCTID:236412002 owl:Class MONDO:0008654 biolink:NamedThing nystagmus 4, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl NYS4|NYSTAGMUS 4, congenital, autosomal dominant|vestibulocerebellar disorder with predominant ocular signs GARD:0009603|OMIM:193003|MESH:C537856 owl:Class MONDO:0030919 biolink:NamedThing intellectual disability, autosomal dominant 53 tmpak2llvmy_mondo_relaxed.owl autosomal dominant intellectual disability 53|mental retardation, autosomal dominant 53|autosomal dominant mental retardation 53|MRD53|intellectual disability, autosomal dominant 53 DOID:0080228|EFO:0009165|OMIM:617798 owl:Class MONDO:0007491 biolink:NamedThing dystelephalangy tmpak2llvmy_mondo_relaxed.owl congenital bilateral metadiaphyseal acrodysplasia of the little finger|dystelephalangy|Kirner deformity OMIM:128000|MESH:C538000|GARD:0010059|UMLS:C1851955 https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy owl:Class MONDO:0032694 biolink:NamedThing microcephaly 25, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MCPH25|MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618351 owl:Class MONDO:0009544 biolink:NamedThing macrocephaly/megalencephaly syndrome, autosomal recessive tmpak2llvmy_mondo_relaxed.owl Fryns Dereymaeker Haegeman syndrome|MGCPH|mental retardation, macrocephaly, short stature and craniofacial dysmorphism|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism|macrocephaly/megalencephaly syndrome, autosomal recessive UMLS:C3806412|GARD:0000148|MESH:C537453|OMIM:248000 owl:Class MONDO:0009894 biolink:NamedThing short-rib thoracic dysplasia 6 with or without polydactyly A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. tmpak2llvmy_mondo_relaxed.owl polydactyly with neonatal chondrodystrophy, type II|SRTD6|Srps, type 2|short rib-polydactyly syndrome, type 2|Majewski syndrome|short rib-polydactyly syndrome type II|short rib-polydactyly syndrome, type 2A|polydactyly with neonatal chondrodystrophy, type 2|polydactyly with neonatal chondrodystrophy type II|short rib-polydactyly syndrome type IIA|short-rib thoracic dysplasia 6 with or without polydactyly|SRPS2A ICD10:Q77.2|NCIT:C122654|DOID:0110092|OMIM:263520 owl:Class MONDO:0013855 biolink:NamedThing influenza, severe, susceptibility to tmpak2llvmy_mondo_relaxed.owl susceptibility to severe influenza|influenza, severe, susceptibility to OMIM:614680 owl:Class HP:0010295 biolink:NamedThing Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. tmpak2llvmy_mondo_relaxed.owl Lingual aplasia/hypoplasia UMLS:C4023916|UMLS:C4280384 peter 2009-07-12T11:41:04Z human_phenotype owl:Class MONDO:0018193 biolink:NamedThing testicular teratoma tmpak2llvmy_mondo_relaxed.owl teratoma of testis|teratoma of the testis|testicular teratoma (disease)|testicular teratoma testicular teratoma (disease) Orphanet:363483|NCIT:C3877|HP:0100616|EFO:1000573|ICD10:C62.9 owl:Class MONDO:0030897 biolink:NamedThing Lessel-Kreienkamp syndrome tmpak2llvmy_mondo_relaxed.owl LESKRES OMIM:619149 owl:Class MONDO:0030971 biolink:NamedThing immunodeficiency 78 with autoimmunity and developmental delay tmpak2llvmy_mondo_relaxed.owl TPP2 deficiency|immunodeficiency 78 with autoimmunity and developmental delay|IMD78 OMIM:619220 owl:Class MONDO:0001084 biolink:NamedThing primary optic atrophy tmpak2llvmy_mondo_relaxed.owl SCTID:21098003|DOID:10627|UMLS:C0155291|ICD9:377.11|ICD10:H47.21 owl:Class MONDO:0011294 biolink:NamedThing schizophrenia 5 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. tmpak2llvmy_mondo_relaxed.owl schizophrenia 5 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 6Q-related|SCZD5|schizophrenia 5 UMLS:C1864153|DOID:0070081|OMIM:603175 owl:Class MONDO:0009328 biolink:NamedThing hemangiomatosis, cutaneous, with associated features tmpak2llvmy_mondo_relaxed.owl hemangiomatosis, cutaneous, with associated features MESH:C562438|OMIM:234800|UMLS:C0220738 owl:Class MONDO:0017600 biolink:NamedThing hairy cell leukemia variant Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C). tmpak2llvmy_mondo_relaxed.owl hairy cell leukaemia variant|HCL-V|hairy cell leukemia variant|prolymphocytic variant of HCL|prolymphocytic variant of hairy cell leukemia|HCL-v|leukemic reticuloendotheliosis variant Orphanet:300878|DOID:713|SCTID:277568007|ICD10:C91.4|ICDO:9591/3|NCIT:C7401|UMLS:C0349633|MedDRA:10019054 owl:Class MONDO:0016545 biolink:NamedThing leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy palmoplantar keratoderma UMLS:CN201627|Orphanet:2386|GARD:0003232 https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma owl:Class MONDO:0000882 biolink:NamedThing myeloid and lymphoid neoplasms associated with PDGFRA rearrangement Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia. tmpak2llvmy_mondo_relaxed.owl myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement 2021-01-01 NCIT:C84275|UMLS:C2827360|DOID:0080165|ICDO:9965/3|ONCOTREE:MLNPDGFRA Reason: duplicate. This will be merged with MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement owl:Class MONDO:0005566 biolink:NamedThing neonatal abstinence syndrome A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. tmpak2llvmy_mondo_relaxed.owl neonatal narcotic withdrawal syndrome|drug withdrawal syndrome in newborn|neonatal withdrawal|NAS DOID:9828|MESH:D009357|UMLS:C0027609|NCIT:C87101|ICD9:760.8|ICD10:P96.1|ICD9:779.5|SCTID:414819007|EFO:0005799 owl:Class MONDO:0011033 biolink:NamedThing type 1 diabetes mellitus 13 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. tmpak2llvmy_mondo_relaxed.owl IDDM13|insulin-dependent diabetes mellitus 13|diabetes mellitus, insulin-dependent, 13 OMIM:601318|ICD10:E10|UMLS:C1832474|DOID:0110752|MESH:C563352 owl:Class MONDO:0024893 biolink:NamedThing toxocara canis infection (canine roundworms) tmpak2llvmy_mondo_relaxed.owl Toxocara catis infection (feline roundworms)|Human infection with the larvae of canine or feline roundworms MESH:C531834|UMLS:C2930846 owl:Class MONDO:0008096 biolink:NamedThing nevus flammeus of nape of neck tmpak2llvmy_mondo_relaxed.owl nevus flammeus of nape of neck|Unna Nevus|erythema nuchae OMIM:163100|MESH:C567524 owl:Class MONDO:0022733 biolink:NamedThing choreoacanthocytosis amyotrophic tmpak2llvmy_mondo_relaxed.owl GARD:0001306 https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic owl:Class ECTO:1000019 biolink:NamedThing exposure to high pressure environment A exposure event involving the interaction of an exposure receptor to high pressure environment. tmpak2llvmy_mondo_relaxed.owl high pressure environment exposure owl:Class MONDO:0001390 biolink:NamedThing transient refractive change tmpak2llvmy_mondo_relaxed.owl SCTID:81519008|ICD9:367.81|DOID:11850|UMLS:C0155000 owl:Class MONDO:0007629 biolink:NamedThing fragile site 10Q23 tmpak2llvmy_mondo_relaxed.owl fragile site type 10Q23|fragile site 10Q23 OMIM:136540|UMLS:C1850987 owl:Class MONDO:0010369 biolink:NamedThing nystagmus 5, congenital, X-linked tmpak2llvmy_mondo_relaxed.owl NYS5|NYSTAGMUS 5, congenital, X-linked OMIM:300589|UMLS:C1845116 owl:Class MONDO:0009001 biolink:NamedThing macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl coloboma of macula and skeletal anomalies ICD10:Q87.8|OMIM:216800|Orphanet:91494|SCTID:722463001|MESH:C565686|UMLS:C1857619 owl:Class HGNC:3420 biolink:NamedThing EPS8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007498 biolink:NamedThing ear exostoses tmpak2llvmy_mondo_relaxed.owl exostoses of external auditory canal|ear exostoses UMLS:C0155411|OMIM:128300 owl:Class MONDO:0011779 biolink:NamedThing laryngeal atresia, encephalocele, and limb deformities tmpak2llvmy_mondo_relaxed.owl laryngeal atresia, encephalocele, and limb deformities|Lel MESH:C564620|OMIM:607132|UMLS:C1846721 owl:Class MONDO:0013574 biolink:NamedThing cutis laxa - Marfanoid syndrome tmpak2llvmy_mondo_relaxed.owl cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype UMLS:C0432335|OMIM:614100|Orphanet:171719|SCTID:254221009|MESH:C563639 owl:Class HGNC:4706 biolink:NamedThing GYS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022407 biolink:NamedThing retinal ciliopathy due to mutation in bardet-biedl gene tmpak2llvmy_mondo_relaxed.owl Orphanet:156183 owl:Class MONDO:0011079 biolink:NamedThing rhizomelic dysplasia, Patterson-Lowry type Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. tmpak2llvmy_mondo_relaxed.owl Patterson Lowry syndrome|rhizomelic dysplasia Patterson Lowry type|Patterson-Lowry rhizomelic dysplasia|rhizomelic dysplasia, Patterson-Lowry type GARD:0004703|UMLS:C1832359|ICD10:Q78.8|MESH:C537609|OMIM:601438|Orphanet:2831|SCTID:715505002 https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type owl:Class MONDO:0012119 biolink:NamedThing asperger syndrome, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl ASPG3|ASPERGER syndrome, susceptibility to, 3 UMLS:C1837434|OMIM:608781 owl:Class HGNC:28163 biolink:NamedThing CCDC28B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022428 biolink:NamedThing aluminosis Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. tmpak2llvmy_mondo_relaxed.owl aluminosis of lung|pulmonary aluminosis|aluminium lung SCTID:90623003|UMLS:C0311227|GARD:0008357 https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung owl:Class MONDO:0002340 biolink:NamedThing tactile epilepsy tmpak2llvmy_mondo_relaxed.owl NCIT:C4687|DOID:2550|UMLS:C0393724|SCTID:230449001 owl:Class MONDO:0005543 biolink:NamedThing autoimmune hepatitis type 1 Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA). tmpak2llvmy_mondo_relaxed.owl type 1 AIH|autoimmune hepatitis type 1 SCTID:721711009|Orphanet:563576|SCTID:197284004|ICD9:571.49 owl:Class HGNC:29316 biolink:NamedThing ZSWIM6 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0006564 biolink:NamedThing L-serine biosynthetic process The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpak2llvmy_mondo_relaxed.owl L-serine formation|L-serine anabolism|L-serine biosynthesis|L-serine synthesis owl:Class MONDO:0008132 biolink:NamedThing optic atrophy with demyelinating disease of CNS tmpak2llvmy_mondo_relaxed.owl optic atrophy with demyelinating disease of CNS UMLS:C1833830|MESH:C563496|DOID:0111756|OMIM:165200 owl:Class OBO:CHR_9606-chr5q12 biolink:NamedThing chr5q12 (Human) tmpak2llvmy_mondo_relaxed.owl 67400000 59600000 hg38 owl:Class MONDO:8000005 biolink:NamedThing fungal discitis Discitis caused by infection with fungi. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:31555 biolink:NamedThing MIR184 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013662 biolink:NamedThing Barrett esophagus Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) tmpak2llvmy_mondo_relaxed.owl Barrett's esophagus with esophagitis|columnar-lined esophagus|Barrett's ulcer of esophagus|adenocarcinoma of esophagus|Barrett metaplasia|ulcerative esophagitis|cello|BE|Barretts syndrome|columnar epithelial-lined Lower esophagus|Barrett esophagus|CLE|Barrett's oesophagus|Barrett's esophagus DOID:9206|MESH:D001471|EFO:0000280|ICD10:K22.7|ICD9:530.85|SCTID:196609006|OMIM:614266|NCIT:C2891|ICD10:K22.70 owl:Class HGNC:714 biolink:NamedThing ARSB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010727 biolink:NamedThing Russell-silver syndrome, X-linked tmpak2llvmy_mondo_relaxed.owl Russell-silver syndrome, X-linked|Russell-Silver-like syndrome with skin pigmentation|Partington syndrome OMIM:312780|SCTID:702412005|ICD9:758.81 owl:Class MONDO:0011656 biolink:NamedThing paget disease of bone 4 tmpak2llvmy_mondo_relaxed.owl Paget disease of bone 4|PDB4 OMIM:606263|MESH:C565240|UMLS:C1853473 owl:Class MONDO:0018613 biolink:NamedThing AH amyloidosis tmpak2llvmy_mondo_relaxed.owl heavy chain amyloidosis Orphanet:442582|ICD10:E85.9 owl:Class MONDO:0015741 biolink:NamedThing distal trisomy 18q tmpak2llvmy_mondo_relaxed.owl distal duplication 18q|distal trisomy type 18q|telomeric duplication 18q|trisomy 18qter ICD10:Q92.3|Orphanet:1716 owl:Class IAO:0000078 biolink:NamedThing curation status specification The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpak2llvmy_mondo_relaxed.owl GROUP:OBI:|OBI_0000266 Better to represent curation as a process with parts and then relate labels to that process (in IAO meeting) curation status specification PERSON:Bill Bug owl:Class NCIT:C25444 biolink:NamedThing Body Cavity tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001694 biolink:NamedThing diffuse interstitial keratitis tmpak2llvmy_mondo_relaxed.owl SCTID:17157001|DOID:13353|ICD10:H16.32|ICD9:370.52|UMLS:C0155089 owl:Class MONDO:0015424 biolink:NamedThing lethal chondrodysplasia, Moerman type tmpak2llvmy_mondo_relaxed.owl Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type UMLS:CN199519|GARD:0003225|Orphanet:1420|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type owl:Class MONDO:0032744 biolink:NamedThing spermatogenic failure 37 tmpak2llvmy_mondo_relaxed.owl SPGF37|SPERMATOGENIC FAILURE 37 OMIM:618429 owl:Class MONDO:0054776 biolink:NamedThing epilepsy, familial focal, with variable foci 4 tmpak2llvmy_mondo_relaxed.owl FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4 UMLS:CN244552|OMIM:617935 owl:Class MONDO:0002750 biolink:NamedThing bladder colloid adenocarcinoma tmpak2llvmy_mondo_relaxed.owl bladder mucinous adenocarcinoma NCIT:C39837|DOID:3710|UMLS:C1511193 owl:Class MONDO:0020725 biolink:NamedThing anemia due to chronic disorder Anemia due to a disorder that is persistent or long-standing in nature. tmpak2llvmy_mondo_relaxed.owl Secondary anemia|anemia due to chronic disorder|anemia due to Chronic Disorder|anemia of chronic disorder|anemia of chronic disease|anemia of chronic inflammation|anemia of systemic disease|anemia of chronic illness ICD9:285.29|SCTID:234347009|UMLS:C0002873|NCIT:C35659 owl:Class MONDO:0020643 biolink:NamedThing autism susceptibility 1 tmpak2llvmy_mondo_relaxed.owl AUTS1|autism susceptibility 1 OMIM:209850 owl:Class MONDO:0008200 biolink:NamedThing autosomal dominant Parkinson disease 1 tmpak2llvmy_mondo_relaxed.owl autosomal dominant Parkinson's disease 1|Parkinson disease 1, autosomal dominant Lewy body|autosomal dominant Parkinson disease 1|PARK1|autosomal dominant Parkinson disease type 1|atypical Parkinson disease|Parkinson disease 1, autosomal dominant DOID:0060367|MESH:C566823|OMIM:168601 Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation owl:Class MONDO:0008586 biolink:NamedThing esophageal atresia/tracheoesophageal fistula Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. tmpak2llvmy_mondo_relaxed.owl tracheoesophageal fistula|tracheoesophageal fistula with or without esophageal atresia|tracheoesophageal fistula with or without esohageal atresia|esophageal atresia with or without tracheoesophageal fistula|TEF|esophageal atresia and/or tracheoesophageal fistula|te fistula ICD10:Q39.1|MedDRA:10030146|MedDRA:10021530|Orphanet:1199|DOID:0080171|GARD:0007792|SCTID:95435007|MESH:C531835|OMIM:189960|ICD10:Q39.0 owl:Class MONDO:0030914 biolink:NamedThing Clark-Baraitser syndrome tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 49|mental retardation, tall stature, obesity, macrocephaly and typical facial features|MRD49|mental retardation, autosomal dominant 49|Clark-Baraitser syndrome|Baraitser syndrome|intellectual disability, autosomal dominant 49|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|autosomal dominant intellectual disability 49 GARD:0009994|OMIM:300602|MESH:C536208|OMIM:617752|UMLS:C2931130|UMLS:CN593636|DOID:0080234 https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome owl:Class HP:0030828 biolink:NamedThing Wheezing A high-pitched whistling sound associated with labored breathing. tmpak2llvmy_mondo_relaxed.owl Wheezing UMLS:C0043144|MSH:D012135|SNOMEDCT_US:56018004 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less human_phenotype owl:Class MONDO:0002174 biolink:NamedThing preretinal fibrosis A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) tmpak2llvmy_mondo_relaxed.owl cellophane maculopathy|macular puckering of retina|macular retinal puckering MESH:D019773|DOID:2006|ICD9:362.89|ICD9:362.56|SCTID:367649002 owl:Class MONDO:0001157 biolink:NamedThing dependent personality disorder A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. tmpak2llvmy_mondo_relaxed.owl NCIT:C92637|MESH:D003859|ICD10:F60.7|ICD9:301.6|DOID:10931|SCTID:84466009 owl:Class MONDO:0023035 biolink:NamedThing Eagle syndrome Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. tmpak2llvmy_mondo_relaxed.owl elongated styloid process syndrome|Eagle's syndrome|elongated styloid process which causes cervico facial pain tinnitus and otalgia|styloid-stylohoid syndrome MESH:C538010|SCTID:609143007|ICD9:733.99|GARD:0009401 https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome owl:Class MONDO:0030074 biolink:NamedThing spondylometaphyseal dysplasia with corneal dystrophy tmpak2llvmy_mondo_relaxed.owl SMDCD|SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY|spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961 owl:Class MONDO:0004009 biolink:NamedThing kidney pelvis sarcomatoid transitional cell carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. tmpak2llvmy_mondo_relaxed.owl renal pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of the kidney pelvis|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of the renal pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis DOID:6844|UMLS:C1335752|NCIT:C6186 owl:Class MONDO:0019327 biolink:NamedThing phakomatosis spilorosea tmpak2llvmy_mondo_relaxed.owl phakomatosis pigmentovascularis type 3 ICD9:759.6|Orphanet:79485|UMLS:CN205986|ICD10:Q85.8|SCTID:703285005 owl:Class MONDO:0003470 biolink:NamedThing cellular ependymoma An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl NCIT:C4713|UMLS:C1384403|DOID:5500 owl:Class HGNC:9545 biolink:NamedThing PSMB8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023066 biolink:NamedThing enchondromatosis dwarfism deafness tmpak2llvmy_mondo_relaxed.owl Wallis cremin Beighton syndrome GARD:0000294 https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness owl:Class NCBITaxon:138 biolink:NamedThing Borrelia tmpak2llvmy_mondo_relaxed.owl Relapsing Fever Borrelia PMID:32320380|PMID:8863416|PMID:31836459|PMID:28141502|PMID:31454394|PMID:8863409|GC_ID:11|PMID:24744012|PMID:27930271|PMID:31722850|PMID:30154058|PMID:30586413 ncbi_taxonomy owl:Class MONDO:0004815 biolink:NamedThing osteosclerotic plasma cell myeloma A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. tmpak2llvmy_mondo_relaxed.owl osteosclerotic plasma cell myeloma|osteosclerotic myeloma|osteosclerotic multiple myeloma NCIT:C7765|SCTID:425657001|DOID:9541 owl:Class HGNC:3214 biolink:NamedThing EEF2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020439 biolink:NamedThing patent foramen ovale A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. tmpak2llvmy_mondo_relaxed.owl foramen ovale patent|defect, patent or persistent, ostium secundum|patent foramen ovale|persistent ostium secundum|patent foramen ovale (disease)|atrial septal defect within oval fossa|ostium secundum type atrial septal defect patent foramen ovale (disease) ICD10:Q21.1|DOID:13620|HP:0001655|Orphanet:99108|UMLS:C0016522|MESH:D054092|MedDRA:10016982|NCIT:C34619 owl:Class HGNC:4892 biolink:NamedThing HGD tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044988 biolink:NamedThing hip region disease A disease or disorder that involves the hip. tmpak2llvmy_mondo_relaxed.owl disease of hip|disease or disorder of hip|hip disease or disorder|disorder of hip region|disorder of hip|hip disease SCTID:118935006|UMLS:C1290862 owl:Class MONDO:0009849 biolink:NamedThing hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). tmpak2llvmy_mondo_relaxed.owl hyperimmunoglobinemia D with recurrent fever|hyperimmunoglobulinemia D syndrome|hyper-IgD syndrome|periodic fever Dutch type|hyperimmunoglobulinemia D and periodic fever syndrome|hyper IgD syndrome|periodic fever, Dutch type|partial mevalonate kinase deficiency|HIDS Orphanet:343|GARD:0002788|UMLS:C0398691|ICD10:E85.0|OMIM:260920 owl:Class MONDO:0030910 biolink:NamedThing intellectual disability, autosomal dominant 45 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 45|autosomal dominant intellectual disability 45|autosomal dominant mental retardation 45|intellectual disability, autosomal dominant 45|MRD45 OMIM:617600|UMLS:CN368509|DOID:0080236 owl:Class MONDO:0007137 biolink:NamedThing isolated congenital anosmia This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. tmpak2llvmy_mondo_relaxed.owl anosmia, isolated congenital|congenital anosmia|anosmia, congenital|ANIC ICD10:Q07.8|MESH:C535983|OMIM:107200|Orphanet:88620|GARD:0009486|SCTID:230502003 owl:Class MONDO:0042956 biolink:NamedThing Saal-Bulas syndrome tmpak2llvmy_mondo_relaxed.owl Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum UMLS:C2931439|MESH:C537193|GARD:0000311 owl:Class MONDO:0006560 biolink:NamedThing hypohidrosis Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. tmpak2llvmy_mondo_relaxed.owl Oligohidrosis EFO:1000712|SCTID:45004005|HP:0000966|ICD10:L74.4|MESH:D007007|Wikipedia:Hypodidrosis|UMLS:C0020620|DOID:11155 Editor note: consider obsoleting owl:Class MONDO:0007777 biolink:NamedThing hypertaurinuric cardiomyopathy tmpak2llvmy_mondo_relaxed.owl hypertaurinuric cardiomyopathy MESH:C564157|UMLS:C1840385|OMIM:145350 owl:Class MONDO:0000677 biolink:NamedThing semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. tmpak2llvmy_mondo_relaxed.owl DOID:0060147 owl:Class MONDO:0007053 biolink:NamedThing restless legs syndrome 1 tmpak2llvmy_mondo_relaxed.owl acromelalgia, hereditary|restless legs syndrome, susceptibility to, 1|RLS1|Ekbom syndrome UMLS:C3888109|GARD:0009709|MESH:C538443|OMIM:102300 owl:Class MONDO:0008350 biolink:NamedThing pulmonic stenosis and deafness tmpak2llvmy_mondo_relaxed.owl pulmonic stenosis and deafness UMLS:C1867406|OMIM:178651 owl:Class MONDO:0014080 biolink:NamedThing osteosclerotic metaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl osteosclerotic metaphyseal dysplasia|OSMD UMLS:C3554665|Orphanet:500548|OMIM:615198 owl:Class MONDO:0015477 biolink:NamedThing pinnae fistula or cyst Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. tmpak2llvmy_mondo_relaxed.owl Orphanet:155838|ICD10:Q18.8 owl:Class MONDO:0017730 biolink:NamedThing metachromatic leukodystrophy, adult form tmpak2llvmy_mondo_relaxed.owl arylsulfatase A deficiency, adult form|MLD, adult form Orphanet:309271|ICD10:E75.2 owl:Class MONDO:0015401 biolink:NamedThing maxillary arteriovenous malformation Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. tmpak2llvmy_mondo_relaxed.owl arteriovenous malformation of maxilla SCTID:703335004|ICD10:Q27.3|Orphanet:141171 owl:Class MONDO:0016552 biolink:NamedThing congenital primary megaureter, nonrefluxing and unobstructed form tmpak2llvmy_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238654 owl:Class NCBITaxon:715989 biolink:NamedThing sordariomyceta tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009980 biolink:NamedThing retinal telangiectasia and hypogammaglobulinemia tmpak2llvmy_mondo_relaxed.owl Frenkel Russe syndrome|retinal telangiectasia and hypogammaglobulinemia|retinal telangiectasia associated with hypogammaglobulinemia OMIM:267900|UMLS:C2930961|GARD:0002383|MESH:C535638 owl:Class MONDO:0009261 biolink:NamedThing GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. tmpak2llvmy_mondo_relaxed.owl gangliosidosis, generalized GM1, type 2|juvenile GM1 gangliosidosis|gangliosidosis generalized GM1 juvenile type|GM1-gangliosidosis, type 2|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type II|gangliosidosis generalized GM1 type 2|late-infantile GM1 gangliosidosis|gangliosidosis, generalized GM1, late-infantile type Orphanet:79256|SCTID:18756002|ICD10:E75.1|DOID:0080501|OMIM:230600|GARD:0010126 https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 owl:Class MONDO:0012949 biolink:NamedThing aneurysm, intracranial berry, 9 tmpak2llvmy_mondo_relaxed.owl ANIB9|aneurysm, intracranial BERRY, 9 MESH:C567238|OMIM:612586|UMLS:C2675485 owl:Class MONDO:0015721 biolink:NamedThing mild hemophilia A Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl mild hemophilia type A|mild factor VIII deficiency SCTID:26029002|UMLS:C0272324|Orphanet:169808|ICD10:D66 owl:Class MONDO:0002317 biolink:NamedThing central nervous system origin vertigo An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) tmpak2llvmy_mondo_relaxed.owl vertigo of central origin|central vestibular vertigo ICD9:386.2|DOID:2479|SCTID:38403006|ICD10:H81.49|UMLS:C0155503|ICD10:H81.4 owl:Class MONDO:0016639 biolink:NamedThing lower limb deficiency-hypospadias syndrome Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. tmpak2llvmy_mondo_relaxed.owl Fried-Goldberg-Mundel syndrome|lower limb malformation-hypospadias syndrome UMLS:C2930962|Orphanet:2487|MESH:C535640 owl:Class MONDO:0022673 biolink:NamedThing autosomal dominant non-nuclear cataract tmpak2llvmy_mondo_relaxed.owl PCC|cataract congenital dominant non nuclear|cataract, Nonnuclear polymorphic congenital, autosomal dominant|CCP|autosomal dominant nonnuclear polymorphic congenital cataract|cataract, polymorphic congenital MESH:C538284|GARD:0001144 https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear owl:Class MONDO:0003147 biolink:NamedThing space motion sickness Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) tmpak2llvmy_mondo_relaxed.owl syndrome, Space adaptation|Space adaptation syndrome|adaptation syndrome, Space|motion sickness, Space EFO:1001188|DOID:4796|MESH:D018489|UMLS:C0242700 owl:Class MONDO:0017334 biolink:NamedThing 12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. tmpak2llvmy_mondo_relaxed.owl deletion 12q15q21.1|monosomy 12q15q21.1|Del(12)(q15)(q21.1) SCTID:734030009|UMLS:CN202984|Orphanet:289513|ICD10:Q93.5|UMLS:C4518344 owl:Class MONDO:0044872 biolink:NamedThing dysautonomia An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. tmpak2llvmy_mondo_relaxed.owl dysautonomia NCIT:C53439 owl:Class MONDO:0043094 biolink:NamedThing ichthyosis, follicular tmpak2llvmy_mondo_relaxed.owl follicular ichthyosis SCTID:238627002|GARD:0002355 owl:Class UBERON:0003434 biolink:NamedThing wrist nerve A nerve that is part of a wrist [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl nerve of wrist|carpal region nerve|nerve of carpal region owl:Class HGNC:31948 biolink:NamedThing CEACAM16 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006864 biolink:NamedThing necrotizing sialometaplasia A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. tmpak2llvmy_mondo_relaxed.owl EFO:1001057|MESH:D012797|MedDRA:10072176|SCTID:109769000|ICD9:527.8|DOID:12901|UMLS:C0037033|ICD10:K11.8 owl:Class MONDO:0008829 biolink:NamedThing chylous ascites Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. tmpak2llvmy_mondo_relaxed.owl congenital chylous ascites|ascites, chylous MedDRA:10003446|GARD:0001359|NCIT:C34482|OMIM:208300|ICD10:I89.8|UMLS:C0008732|SCTID:52985009|ICD9:457.8|MESH:D002915|Orphanet:1160 https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites owl:Class MONDO:0001434 biolink:NamedThing inflammatory spondylopathy tmpak2llvmy_mondo_relaxed.owl inflammatory spondylopathies in disease EC|inflammatory spondylopathies in disease classified elsewhere|inflammatory spondylopathy in disease classified elsewhere ICD9:720.81|DOID:12105|ICD9:720.9|ICD9:720.89|SCTID:202649003 owl:Class GO:0030312 biolink:NamedThing external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017220 biolink:NamedThing laryngotracheoesophageal cleft type 0 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. tmpak2llvmy_mondo_relaxed.owl LTEC0|laryngo-tracheo-esophageal cleft type 0 UMLS:CN202702|ICD10:Q32.1|Orphanet:280205 owl:Class NCBITaxon:469 biolink:NamedThing Acinetobacter tmpak2llvmy_mondo_relaxed.owl PMID:9226915|GC_ID:11|PMID:10028249|PMID:9336926|PMID:8934907|PMID:7520730 ncbi_taxonomy owl:Class MONDO:0011521 biolink:NamedThing inflammatory bowel disease 7 An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36. tmpak2llvmy_mondo_relaxed.owl IBD7|inflammatory bowel disease 7|inflammatory bowel disease type 7 MESH:C565353|DOID:0110882|UMLS:C1854573|OMIM:605225 owl:Class MONDO:0018812 biolink:NamedThing MSH3-related attenuated familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl MSH3-related AFAP|MSH3-related attenuated familial adenomatous polyposis|MSH3-related attenuated familial polyposis coli|MSH3-related attenuated FAP Orphanet:480536|UMLS:CN776886 owl:Class MONDO:0014979 biolink:NamedThing myoclonus, intractable, neonatal tmpak2llvmy_mondo_relaxed.owl myoclonus, intractable, neonatal; NEIMY|NEIMY|myoclonus, intractable, neonatal UMLS:C4310658|OMIM:617235 owl:Class MONDO:0023368 biolink:NamedThing Ho-Kaufman-McAlister syndrome Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet tmpak2llvmy_mondo_relaxed.owl cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome UMLS:C2931819|MESH:C538325|GARD:0001266 https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome owl:Class MONDO:0002239 biolink:NamedThing post-surgical hypoinsulinemia tmpak2llvmy_mondo_relaxed.owl postsurgical hypoinsulinemia DOID:2181|ICD10:E89.1|ICD9:251.3|SCTID:190437000|UMLS:C0154190 owl:Class HGNC:17023 biolink:NamedThing RNF139 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015388 biolink:NamedThing polyrrhinia Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. tmpak2llvmy_mondo_relaxed.owl Polyrhinia|Double nose ICD10:Q30.8|Orphanet:141091|SCTID:716279002 owl:Class HP:0030674 biolink:NamedThing Antenatal onset Onset prior to birth. tmpak2llvmy_mondo_relaxed.owl UMLS:C2673646 human_phenotype owl:Class MONDO:0017235 biolink:NamedThing familial omphalocele syndrome with facial dysmorphism Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. tmpak2llvmy_mondo_relaxed.owl UMLS:CN202726|Orphanet:280403 owl:Class NCBITaxon:1314886 biolink:NamedThing Neobalantidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003231 biolink:NamedThing acute nonparalytic poliomyelitis A poliomyelitis that does not exhibit paralysis. tmpak2llvmy_mondo_relaxed.owl nonparalytic poliomyelitis|acute nonparalytic poliomyelitis|non-paralytic aseptic meningitis ICD10:A80.4|DOID:4986|SCTID:14535005|ICD9:045.23|ICD9:045.2|UMLS:C0152998|ICD9:045.20|ICD9:045.22 owl:Class MONDO:0017340 biolink:NamedThing juvenile nasopharyngeal angiofibroma Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. tmpak2llvmy_mondo_relaxed.owl juvenile nasopharyngeal angiofibroma|JNA|nasopharyngeal juvenile angiofibroma|juvenile nasopharyngeal angiofibroma (disease)|nasopharyngeal angiofibroma juvenile nasopharyngeal angiofibroma (disease) NCIT:C27479|ICD10:D10.6|UMLS:C1367536|SCTID:716590006|HP:0030429|Orphanet:289596|UMLS:CN202999 owl:Class MONDO:0032846 biolink:NamedThing osteogenesis imperfecta, type 20 tmpak2llvmy_mondo_relaxed.owl OI20|OSTEOGENESIS IMPERFECTA, TYPE XX OMIM:618644 owl:Class MONDO:0030899 biolink:NamedThing oculocutaneous albinism type 8 tmpak2llvmy_mondo_relaxed.owl oculocutaneous albinism, type 8|OCA8 OMIM:619165|Orphanet:597733 owl:Class HGNC:10968 biolink:NamedThing SLC22A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001683 biolink:NamedThing pancreatic mucinous ductal ectasia tmpak2llvmy_mondo_relaxed.owl UMLS:C1335310|DOID:13313|NCIT:C5717 owl:Class MONDO:0018003 biolink:NamedThing limbic encephalitis with DPP6 antibodies tmpak2llvmy_mondo_relaxed.owl limbic encephalitis with dipeptidyl-peptidase 6 antibodies|limbic encephalitis with DPPX antibodies ICD10:G13.1|Orphanet:329341 owl:Class HGNC:3393 biolink:NamedThing EPHB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016036 biolink:NamedThing Ledderhose disease Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences. tmpak2llvmy_mondo_relaxed.owl Lederhose disease|plantar fibromatosis MedDRA:10035154|ICD10:M72.2|Orphanet:199251|MESH:C537000|GARD:0006873 https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease owl:Class MONDO:0008203 biolink:NamedThing Passovoy factor defect tmpak2llvmy_mondo_relaxed.owl Passovoy factor defect OMIM:168830|UMLS:C3149707 owl:Class MONDO:0016533 biolink:NamedThing apolipoprotein A-II amyloidosis tmpak2llvmy_mondo_relaxed.owl hereditary renal amyloidosis due to apolipoprotein A-II variant|familial renal amyloidosis due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial amyloid nephropathy due to apolipoprotein A-II variant|AApoAII amyloidosis Orphanet:238269|ICD10:E85.0|UMLS:CN201610 owl:Class FOODON:03420237 biolink:NamedThing floret or flower The pigmented blossom of a plant that contains the reproductive organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010260 biolink:NamedThing arthrogryposis, congenital, lower limb, X-linked tmpak2llvmy_mondo_relaxed.owl arthrogryposis, X-linked, type V|arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V, formerly|ACLLX UMLS:C1846273|OMIM:300158|MESH:C564574 owl:Class MONDO:0017463 biolink:NamedThing congenital pseudoarthrosis of the femur tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of the femur Orphanet:295020|ICD10:Q74.2 owl:Class CL:0002573 biolink:NamedThing Schwann cell A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. tmpak2llvmy_mondo_relaxed.owl BTO:0001220|CALOHA:TS-0898 tmeehan 2011-03-02T01:19:27Z cell owl:Class UBERON:0015476 biolink:NamedThing nose skin A zone of skin that is part of a external nose. tmpak2llvmy_mondo_relaxed.owl skin of nose|skin of external nose|external nasal skin owl:Class MONDO:0033654 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 19 tmpak2llvmy_mondo_relaxed.owl MC4DN19 OMIM:619063 owl:Class HGNC:30778 biolink:NamedThing GATAD2B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030058 biolink:NamedThing deafness, autosomal dominant 77 tmpak2llvmy_mondo_relaxed.owl deafness, autosomal dominant 77|DFNA77|DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM:618915 owl:Class MONDO:0011509 biolink:NamedThing low density lipoprotein cholesterol, mild elevation of tmpak2llvmy_mondo_relaxed.owl low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of OMIM:605028 owl:Class GO:0016826 biolink:NamedThing hydrolase activity, acting on acid sulfur-nitrogen bonds Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. tmpak2llvmy_mondo_relaxed.owl hydrolase activity, acting on acid sulphur-nitrogen bonds owl:Class GO:0003018 biolink:NamedThing vascular process in circulatory system A circulatory process that occurs at the level of the vasculature. tmpak2llvmy_mondo_relaxed.owl vasculature process owl:Class HGNC:4805 biolink:NamedThing HAGH tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:582 biolink:NamedThing APBB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010367 biolink:NamedThing SHOX-related short stature SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. tmpak2llvmy_mondo_relaxed.owl short stature, idiopathic, X-linked|ISS OMIM:300582|ICD10:Q87.1|MESH:C564479|EFO:0008989|Orphanet:314795|SCTID:763868006 owl:Class MONDO:0011915 biolink:NamedThing mitral valve prolapse, myxomatous 2 tmpak2llvmy_mondo_relaxed.owl mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|MMVP2|MVP2|myxomatous mitral valve prolapse 2 MESH:C564326|OMIM:607829|UMLS:C1843003 owl:Class MONDO:0017466 biolink:NamedThing congenital pseudoarthrosis of the ulna tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of the ulna Orphanet:295026|ICD10:Q74.0 owl:Class MONDO:0018064 biolink:NamedThing trigonocephaly-broad thumbs syndrome Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl Hunter Rudd Hoffmann syndrome|Hunter-Rudd-Hoffmann syndrome Orphanet:3365|ICD10:Q87.0|GARD:0002756|SCTID:719949001 owl:Class MONDO:0030918 biolink:NamedThing intellectual disability, autosomal dominant 52 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal dominant 52|MRD52|autosomal dominant mental retardation 52|autosomal dominant intellectual disability 52|intellectual disability, autosomal dominant 52 UMLS:CN671932|DOID:0080231|OMIM:617796|EFO:0009152 owl:Class MONDO:0032626 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 22 tmpak2llvmy_mondo_relaxed.owl MC1DN22|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 OMIM:618243 owl:Class MONDO:0022653 biolink:NamedThing cardiomyopathy due to anthracyclines tmpak2llvmy_mondo_relaxed.owl GARD:0001107 https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines owl:Class HGNC:2206 biolink:NamedThing COL4A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023650 biolink:NamedThing littoral cell angioma of the spleen Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. tmpak2llvmy_mondo_relaxed.owl littoral cell angioma SCTID:418040002|GARD:0009714|UMLS:C1627365|MESH:C537031 https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen owl:Class MONDO:0000811 biolink:NamedThing anomalous left coronary artery from the pulmonary artery A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. tmpak2llvmy_mondo_relaxed.owl ALCAPA|BWGS|Bland-White-Garland syndrome|White-Garland syndrome|ALCAPA disorder MESH:D063748|DOID:0060562|UMLS:C1735886 owl:Class SO:0000578 biolink:NamedThing snoRNA_encoding A region that can be transcribed into a small nucleolar RNA (snoRNA). tmpak2llvmy_mondo_relaxed.owl snoRNA encoding owl:Class MONDO:0017402 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, biventricular form tmpak2llvmy_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form ICD10:I42.8|UMLS:CN203146|Orphanet:293899 owl:Class HP:0030082 biolink:NamedThing Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. tmpak2llvmy_mondo_relaxed.owl Abnormal drinking behaviour|Abnormal drinking behavior UMLS:C4022657 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. human_phenotype owl:Class MONDO:0008402 biolink:NamedThing cleft palate-large ears-small head syndrome Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. tmpak2llvmy_mondo_relaxed.owl cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|cleft palate large ears small head|Say Barber Hobbs syndrome|SAY syndrome UMLS:C1867023|ICD10:Q87.8|SCTID:763130006|MESH:C536621|Orphanet:2013|GARD:0000162|OMIM:181180 owl:Class MONDO:0002716 biolink:NamedThing childhood spinal cord tumor A benign or malignant neoplasm affecting the spinal cord during childhood. tmpak2llvmy_mondo_relaxed.owl pediatric spinal cord neoplasm|childhood spinal cord neoplasm|spinal cord neoplasm of childhood UMLS:C1134515|NCIT:C9234|DOID:3637 owl:Class HGNC:1689 biolink:NamedThing CD59 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032757 biolink:NamedThing ciliary dyskinesia, primary, 41 tmpak2llvmy_mondo_relaxed.owl CILD41|CILIARY DYSKINESIA, PRIMARY, 41 OMIM:618449 owl:Class MONDO:0011956 biolink:NamedThing autism, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl AUTS3|autism, susceptibility to, 3 OMIM:608049 owl:Class MONDO:0013636 biolink:NamedThing primary biliary cholangitis 4 tmpak2llvmy_mondo_relaxed.owl PBC4|biliary cirrhosis, primary, 4 OMIM:614220|UMLS:C3280201 owl:Class MONDO:0006111 biolink:NamedThing bladder flat intraepithelial lesion A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ. tmpak2llvmy_mondo_relaxed.owl bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|flat intraepithelial lesion of the bladder|urinary bladder flat intraepithelial lesion UMLS:C1332559|NCIT:C37266|DOID:5429|EFO:1000126 owl:Class HGNC:7114 biolink:NamedThing MKRN3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008166 biolink:NamedThing ovalocytosis, hereditary hemolytic, with defective erythropoiesis tmpak2llvmy_mondo_relaxed.owl ovalocytosis, hereditary hemolytic, with defective erythropoiesis MESH:C563479|OMIM:166910|UMLS:C1833689 owl:Class MONDO:0001987 biolink:NamedThing senile degeneration of brain tmpak2llvmy_mondo_relaxed.owl Senile brain degen. DOID:14524|UMLS:C0154669|ICD9:331.2|SCTID:45864009 owl:Class MONDO:0005892 biolink:NamedThing otitis media with effusion Otitis media associated with accumulation of fluid in the middle ear. tmpak2llvmy_mondo_relaxed.owl secretory otitis Media|serous otitis Media|OME EFO:0007415|NCIT:C34886|MESH:D010034|ICD9:381.20|ICD9:381.29|SCTID:78868004 owl:Class MONDO:0007192 biolink:NamedThing beta-amino acids, renal transport of tmpak2llvmy_mondo_relaxed.owl taurine renal reabsorption|BETA-amino acids, renal TRANSPORT OF|AABT OMIM:109660|UMLS:C1862289 owl:Class MONDO:0001803 biolink:NamedThing myringitis bullosa hemorrhagica A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. tmpak2llvmy_mondo_relaxed.owl bullous myringitis SCTID:33528003|DOID:13791|UMLS:C0155461|ICD9:384.01|ICD10:H73.01 owl:Class MONDO:0007370 biolink:NamedThing coracoclavicular joint, anomalous tmpak2llvmy_mondo_relaxed.owl coracoclavicular joint, anomalous OMIM:121350|MESH:C565161 owl:Class MONDO:0003945 biolink:NamedThing bone epithelioid hemangioma A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. tmpak2llvmy_mondo_relaxed.owl osseous hemangioma|osseous epithelioid hemangioma|osseous epithelioid angioma|bone hemangioma|epithelioid hemangioma of the bone|epithelioid hemangioma of bone|epithelioid angioma of the bone|bone epithelioid hemangioma|bone epithelioid angioma|epithelioid angioma of bone|hemangioma of bone DOID:6610|UMLS:C1332575|NCIT:C5396|EFO:1000132|UMLS:C1332578 Editor note: DO classifies this as benign owl:Class MONDO:0014697 biolink:NamedThing immunodeficiency, common variable, 12 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. tmpak2llvmy_mondo_relaxed.owl common variable immunodeficiency caused by mutation in NFKB1|NFKB1 deficiency|immunodeficiency, common variable, type 12|immunodeficiency, common variable, 12|CVID12|NFKB1 common variable immunodeficiency UMLS:C4225277|OMIM:616576 owl:Class HP:0000023 biolink:NamedThing Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. tmpak2llvmy_mondo_relaxed.owl MSH:D006552|UMLS:C0019294|MEDDRA:10022016|SNOMEDCT_US:396232000 Inguinal hernia appears as a bulge in the groin. human_phenotype owl:Class GO:0060606 biolink:NamedThing tube closure Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0021812 biolink:NamedThing adnexal spiradenoma/cylindroma of a sweat gland A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. tmpak2llvmy_mondo_relaxed.owl cylindroma of skin|cylindroma|cylindroma of the skin|dermal cylindroma|adnexal sweat gland spiradenoma/cylindroma SCTID:274903001|ICDO:8200/0|NCIT:C27094|GARD:0008641 Editor note: See GARD:0010464 https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland owl:Class MONDO:0009939 biolink:NamedThing pulmonic stenosis and congenital nephrosis tmpak2llvmy_mondo_relaxed.owl pulmonic stenosis and congenital nephrosis UMLS:C0403552|OMIM:265600|SCTID:236530006|MESH:C562895 owl:Class MONDO:0001504 biolink:NamedThing fetishism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish"). tmpak2llvmy_mondo_relaxed.owl DOID:1235|NCIT:C94353|ICD9:302.81|MESH:D005329|ICD10:F65.0|SCTID:59174009 owl:Class MONDO:0006932 biolink:NamedThing pulmonary edema Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). tmpak2llvmy_mondo_relaxed.owl edema, pulmonary SCTID:19242006|EFO:1001134|DOID:11396|NCIT:C26868|ICD10:J81.1|ICD10:J81|MedDRA:10037375|MESH:D011654|UMLS:C0034063 owl:Class MONDO:0036484 biolink:NamedThing Charcot-Marie-Tooth disease, dominant intermediate G tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease dominant intermediate G|CMTDIG UMLS:CN847583|OMIM:617882|DOID:0080294 owl:Class CL:0010017 biolink:NamedThing zygote A zygote in a plant or an animal. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001568 biolink:NamedThing mixed receptive-expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpak2llvmy_mondo_relaxed.owl SCTID:25766007|ICD10:F80.2|ICD9:315.32|DOID:12685|NCIT:C92563 owl:Class MONDO:0013309 biolink:NamedThing chromosome 2p12-p11.2 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 2p12-p11.2 deletion syndrome DOID:0060414|OMIM:613564|UMLS:C3150804 owl:Class HGNC:8965 biolink:NamedThing PIGK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020462 biolink:NamedThing tarsal kink syndrome Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. tmpak2llvmy_mondo_relaxed.owl Orphanet:99170|UMLS:CN207325 owl:Class MONDO:0032737 biolink:NamedThing spastic paraplegia 80, autosomal dominant tmpak2llvmy_mondo_relaxed.owl SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT|SPG80 OMIM:618418 owl:Class HGNC:336 biolink:NamedThing AGTR1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:5005 biolink:NamedThing HMGCL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011848 biolink:NamedThing headache associated with sexual activity tmpak2llvmy_mondo_relaxed.owl benign sexual headache|headache associated with sexual activity|HSA OMIM:607504|ICD10:G44.82 owl:Class MONDO:0012047 biolink:NamedThing alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia tmpak2llvmy_mondo_relaxed.owl alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia UMLS:C1837946|OMIM:608509|MESH:C563920 owl:Class MONDO:0006243 biolink:NamedThing hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. tmpak2llvmy_mondo_relaxed.owl hepatoid carcinoma|hepatoid adenocarcinoma ICDO:8576/3|DOID:0060534|UMLS:C1266090|EFO:1000293|NCIT:C66950 owl:Class MONDO:0032650 biolink:NamedThing neurodegeneration, childhood-onset, with cerebellar atrophy tmpak2llvmy_mondo_relaxed.owl NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY|CONDCA OMIM:618276 owl:Class MONDO:0017108 biolink:NamedThing isolated total cerebellar vermis agenesis tmpak2llvmy_mondo_relaxed.owl Orphanet:269206|ICD10:Q04.3 owl:Class MONDO:0001428 biolink:NamedThing pylorospasm tmpak2llvmy_mondo_relaxed.owl ICD9:537.81|DOID:12072|UMLS:C0152163|SCTID:335002 owl:Class MONDO:0009386 biolink:NamedThing hyperlexia tmpak2llvmy_mondo_relaxed.owl precocious reading|hyperlexia|compulsive reading OMIM:238350|MESH:C565500 owl:Class MONDO:0015529 biolink:NamedThing paroxysmal Hemicrania Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. tmpak2llvmy_mondo_relaxed.owl MESH:D051302|MedDRA:10019461|SCTID:443094001|UMLS:C1399352|ICD9:339.03|Orphanet:157835|EFO:1001822|GARD:0010794|ICD10:G44.0 https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania owl:Class HGNC:7497 biolink:NamedThing MT-TS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003306 biolink:NamedThing atypical neurofibroma A neurofibroma characterized by the presence of cellular pleomorphism. tmpak2llvmy_mondo_relaxed.owl atypical neurofibroma DOID:5153|NCIT:C41426|UMLS:C1510961 owl:Class HGNC:25843 biolink:NamedThing ZNF750 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008352 biolink:NamedThing pupillary membrane, persistence of tmpak2llvmy_mondo_relaxed.owl pupillary membrane, persistence of MESH:C562700|OMIM:178900 owl:Class MONDO:0009647 biolink:NamedThing Morquio syndrome C tmpak2llvmy_mondo_relaxed.owl Morquio syndrome type C|Morquio syndrome, Nonkeratosulfate-Excreting type|Morquio syndrome C OMIM:252300|MESH:C536247 owl:Class MONDO:0012892 biolink:NamedThing bone fragility with contractures, arterial rupture, and deafness A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. tmpak2llvmy_mondo_relaxed.owl connective tissue disorder due to lysyl hydroxylase-3 deficiency|connective tissue disorder due to LH3 deficiency|LH3 deficiency|bone fragility with contractures, arterial rupture, and deafness|bone fragility-contractures-arterial rupture-deafness syndrome|lysyl Hydroxylase 3 deficiency MESH:C567320|SCTID:763318007|Orphanet:300284|UMLS:C2676285|OMIM:612394 owl:Class MONDO:0017497 biolink:NamedThing congenital absence of thigh and lower leg with foot present, bilateral tmpak2llvmy_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, bilateral ICD10:Q72.13|Orphanet:295091|ICD10:Q72.1 owl:Class HGNC:1917 biolink:NamedThing CHD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004396 biolink:NamedThing cervical spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the cervical region of the spinal cord. tmpak2llvmy_mondo_relaxed.owl meningioma of cervical spinal canal and spinal cord|meningioma of the cervical spinal canal and spinal cord|cervical intraspinal meningioma NCIT:C5296|DOID:7915|UMLS:C1332916 owl:Class MONDO:0015740 biolink:NamedThing trisomy 18p Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy. tmpak2llvmy_mondo_relaxed.owl 18p trisomy|Duplication 18p|Duplication of the short arm of chromosome 18|trisomy of the short arm of chromosome 18|chromosome 18p duplication|partial trisomy 18p|trisomy type 18p|18p duplication MESH:C538307|Orphanet:1715|GARD:0005323|ICD10:Q92.2 owl:Class MONDO:0004311 biolink:NamedThing carcinoma of Cowper glands A carcinoma that involves the bulbo-urethral gland. tmpak2llvmy_mondo_relaxed.owl carcinoma of Cowper glands|carcinoma of bulbo-urethral gland|Cowper gland carcinoma|bulbo-urethral gland carcinoma UMLS:C1516284|NCIT:C39864|DOID:7632 owl:Class NCBITaxon:170 biolink:NamedThing Leptospiraceae tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:16014471 ncbi_taxonomy owl:Class NCBITaxon:1643688 biolink:NamedThing Leptospirales tmpak2llvmy_mondo_relaxed.owl Leptospiriales GC_ID:11|PMID:23908650 ncbi_taxonomy owl:Class NCBITaxon:2560066 biolink:NamedThing Matonaviridae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006429 biolink:NamedThing splenic hodgkin lymphoma A rare Hodgkin lymphoma that arises from the spleen. tmpak2llvmy_mondo_relaxed.owl Hodgkin's lymphoma of spleen|splenic Hodgkin's disease|Hodgkin's lymphoma of the spleen|Hodgkin's disease of spleen|primary splenic Hodgkin's lymphoma|splenic Hodgkin's lymphoma|splenic Hodgkins lymphoma|Hodgkin's disease of the spleen SCTID:93527005|NCIT:C7295|EFO:1000548|UMLS:C0153791 owl:Class MONDO:0009139 biolink:NamedThing dyssegmental dysplasia, Rolland-Desbuquois type tmpak2llvmy_mondo_relaxed.owl dyssegmental dwarfism Rolland-Desbuquois type|Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|dyssegmental dysplasia Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism, Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type OMIM:224400|ICD10:Q77.7|MESH:C537999|SCTID:95243004|UMLS:C0432209|GARD:0009810|Orphanet:156731|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type owl:Class HGNC:1748 biolink:NamedThing CDH1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:21679 biolink:NamedThing RSPO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017551 biolink:NamedThing humero-radial synostosis, bilateral tmpak2llvmy_mondo_relaxed.owl humero-radial fusion, bilateral ICD10:Q74.0|Orphanet:295211 owl:Class HGNC:18568 biolink:NamedThing HSFY1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012021 biolink:NamedThing myopia 17, autosomal dominant tmpak2llvmy_mondo_relaxed.owl myopia 4|MYP17|myopia 17, autosomal dominant|myopia 4, formerly UMLS:C3888211|OMIM:608367 owl:Class CL:0000498 biolink:NamedThing inhibitory interneuron An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS). tmpak2llvmy_mondo_relaxed.owl FMA:84776 cell owl:Class MONDO:0009085 biolink:NamedThing deafness-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. tmpak2llvmy_mondo_relaxed.owl deafness vitiligo achalasia|congenital deafness with vitiligo and achalasia|deafness, congenital, with vitiligo and achalasia UMLS:C1857339|Orphanet:3239|ICD10:Q87.8|OMIM:221350|MESH:C565642|GARD:0001705 https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia owl:Class MONDO:0013041 biolink:NamedThing atypical hemolytic-uremic syndrome with I factor anomaly tmpak2llvmy_mondo_relaxed.owl susceptibility to atypical hemolytic uremic syndrome 3|aHUS, susceptibility to, 3|aHUS3|hemolytic uremic syndrome, atypical, susceptibility to, 3|hemolytic uremic syndrome, atypical, susceptibility to, type 3|D-HUS with I factor anomaly|hemolytic-uremic syndrome without diarrhea with I factor anomaly|atypical HUS with I factor anomaly|AHUS3|aHUS with I factor anomaly ICD10:D58.8|OMIM:612923|Orphanet:93580 owl:Class MONDO:0011854 biolink:NamedThing secretory diarrhea, myopathy, and deafness tmpak2llvmy_mondo_relaxed.owl secretory diarrhea, myopathy, and deafness MESH:C564382|UMLS:C1843757|OMIM:607540 owl:Class HP:0100306 biolink:NamedThing Muscle fiber hyaline bodies tmpak2llvmy_mondo_relaxed.owl Muscle fibre hyaline bodies UMLS:C4022155 doelkens 2010-08-10T02:49:13Z human_phenotype owl:Class MONDO:0017583 biolink:NamedThing mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. tmpak2llvmy_mondo_relaxed.owl Orphanet:3004|ICD10:Q87.2|UMLS:CN203387 owl:Class MONDO:0044721 biolink:NamedThing severe combined immunodeficiency due to LAT deficiency tmpak2llvmy_mondo_relaxed.owl SCID due to LAT deficiency|immunodeficiency 52|IMD52 OMIM:617514|UMLS:C4479588|Orphanet:504523 owl:Class MONDO:0001693 biolink:NamedThing ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. tmpak2llvmy_mondo_relaxed.owl ICD9:302.0|DOID:13352 owl:Class MONDO:0022586 biolink:NamedThing bone dysplasia Moore type tmpak2llvmy_mondo_relaxed.owl GARD:0000923 https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type owl:Class MONDO:0009707 biolink:NamedThing myopathy with giant abnormal mitochondria tmpak2llvmy_mondo_relaxed.owl myopathy with giant abnormal mitochondria OMIM:255140|UMLS:C1850717|MESH:C564971 owl:Class MONDO:0016991 biolink:NamedThing acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. tmpak2llvmy_mondo_relaxed.owl isolated acute necrotizing encephalopathy|isolated ANE|ANEC ICD10:G31.8|Orphanet:263524|SCTID:763310000 owl:Class HGNC:17493 biolink:NamedThing GMNN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013967 biolink:NamedThing peroxisome biogenesis disorder 14B tmpak2llvmy_mondo_relaxed.owl PEX14B|PEX11B peroxisome biogenesis disorder|peroxisome biogenesis disorder type 14B|peroxisome biogenesis disorder 14B UMLS:C3554055|OMIM:614920 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class FOODON:03411081 biolink:NamedThing penaeid shrimp family *Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae] tmpak2llvmy_mondo_relaxed.owl Natantia|Dendrobranchiata Bate, 1888 owl:Class HGNC:1582 biolink:NamedThing CCND1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008650 biolink:NamedThing posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. tmpak2llvmy_mondo_relaxed.owl vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|Faulk-Epstein-Jones syndrome|vertebral fusion posterior lumbosacral blepharoptosis|Faulk Epstein Jones syndrome|congenital ptosis and posterior fusion of lumbosacral vertebrae|familial posterior lumbosacral vertebral fusion and eyelid ptosis UMLS:C1860464|GARD:0005487|SCTID:724064004|OMIM:192800|ICD10:Q87.5|GARD:0002276|MESH:C536344|Orphanet:2064 https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome owl:Class MONDO:0017530 biolink:NamedThing polysyndactyly, bilateral tmpak2llvmy_mondo_relaxed.owl preaxial polydactyly type 4, bilateral Orphanet:295161|UMLS:CN203261|ICD10:Q70.4 owl:Class MONDO:0019093 biolink:NamedThing immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). tmpak2llvmy_mondo_relaxed.owl specific antibody deficiency UMLS:C0398711|SCTID:234556002|ICD10:D80.8|Orphanet:70593|GARD:0011903 owl:Class HGNC:25396 biolink:NamedThing FREM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010637 biolink:NamedThing keratosis follicularis spinulosa decalvans, X-linked tmpak2llvmy_mondo_relaxed.owl keratosis follicularis Spinulosa decalvans cum Ophiasi|keratosis follicularis SPINULOSA decalvans, X-linked|keratosis follicularis spinulosa decalvans cum ophiasi|KFSDX|Kfsdx|keratosis follicularis spinulosa decalvans|keratosis follicularis spinulosa decalvans, X-linked UMLS:C3887525|OMIM:308800|MESH:C536159 owl:Class HGNC:16628 biolink:NamedThing SLC49A4 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000666 biolink:NamedThing fenestrated cell tmpak2llvmy_mondo_relaxed.owl window cell cell owl:Class GO:0009179 biolink:NamedThing purine ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine ribonucleoside diphosphate metabolism owl:Class HGNC:18365 biolink:NamedThing IFNL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006716 biolink:NamedThing coronary thrombosis Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. tmpak2llvmy_mondo_relaxed.owl thrombotic disease of coronary vessel|coronary vessel thrombotic disease|coronary artery thrombosis UMLS:C0010072|ICD10:I22|MedDRA:10011108|SCTID:398274000|DOID:11847|ICD10:I21|EFO:1000883|MESH:D003328 owl:Class MONDO:0012788 biolink:NamedThing coronary heart disease, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl CHDS9|coronary heart disease, susceptibility to, 9 OMIM:612030 owl:Class HGNC:30551 biolink:NamedThing TXNL4A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012711 biolink:NamedThing peripapillary atrophy, beta type tmpak2llvmy_mondo_relaxed.owl peripapillary chorioretinal atrophy, Beta type|Beta-PPA|peripapillary atrophy, BETA type|peripapillary atrophy, beta type|PPAB UMLS:C1968838|OMIM:611650|MESH:C566898 owl:Class MONDO:0002110 biolink:NamedThing adrenal rest tumor A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia. tmpak2llvmy_mondo_relaxed.owl adrenal rest neoplasm|adrenal rest tumor MESH:D000314|NCIT:C2860|DOID:1786|EFO:1000798|ICDO:8671/0|UMLS:C0001630 owl:Class CHEBI:29057 biolink:NamedThing keratan tmpak2llvmy_mondo_relaxed.owl owl:Class ENVO:01000303 biolink:NamedThing endolithic environment An endolithic environment is an environment that exists within solid rock. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015629 biolink:NamedThing von Willebrand disease type 2B Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. tmpak2llvmy_mondo_relaxed.owl von Willebrand disease, type 2B|von Willebrand disease type 2B NCIT:C131687|UMLS:C1282971|SCTID:359721009|SCTID:359717002|ICD10:D68.0|Orphanet:166087 owl:Class MONDO:0008732 biolink:NamedThing adrenal hypoplasia, cytomegalic type tmpak2llvmy_mondo_relaxed.owl adrenal hypoplasia, cytomegalic type UMLS:C1859977|OMIM:202155 owl:Class MONDO:0019259 biolink:NamedThing classic phenylketonuria Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. tmpak2llvmy_mondo_relaxed.owl classic PKU Orphanet:79254|MedDRA:10034875|ICD10:E70.0 owl:Class MONDO:0032778 biolink:NamedThing arthrogryposis multiplex congenita 3, myogenic type tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex congenita, myogenic type|AMCM OMIM:618484 owl:Class MONDO:0011283 biolink:NamedThing mitochondrial DNA depletion syndrome 1 tmpak2llvmy_mondo_relaxed.owl myoneurogastrointestinal encephalopathy syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|Polip syndrome|mitochondrial DNA depletion syndrome 1 (MNGIE type)|mitochondrial DNA depletion syndrome 1|Mngie, tymp-related|MTDPS1|mitochondrial DNA depletion syndrome type 1 DOID:0080119|OMIM:603041 owl:Class MONDO:0023124 biolink:NamedThing familial pulmonary arterial hypertension leucopenia and atrial septal defect tmpak2llvmy_mondo_relaxed.owl familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD GARD:0010455 https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect owl:Class MONDO:0013292 biolink:NamedThing chromosome 4q21 deletion syndrome The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. tmpak2llvmy_mondo_relaxed.owl chromosome 4q21 deletion syndrome|monosomy 4q21|4q21 microdeletion syndrome|Del(4)(q21) ICD10:Q93.5|DOID:0060420|UMLS:C3150756|SCTID:719660008|OMIM:613509|Orphanet:238750|UMLS:C4304530 owl:Class MONDO:0012769 biolink:NamedThing prostate cancer, hereditary, 14 tmpak2llvmy_mondo_relaxed.owl prostate cancer, hereditary, 14|HPC14 UMLS:C2677772|OMIM:611958|MESH:C567448 owl:Class MONDO:0008128 biolink:NamedThing ophthalmoplegia, familial static tmpak2llvmy_mondo_relaxed.owl external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static OMIM:165000|UMLS:C1833839|MESH:C563500 owl:Class GO:0009295 biolink:NamedThing nucleoid The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000662 biolink:NamedThing amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. tmpak2llvmy_mondo_relaxed.owl receptive amusia DOID:0060132|UMLS:C0234497 owl:Class MONDO:0001427 biolink:NamedThing Dieulafoy lesion Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly. tmpak2llvmy_mondo_relaxed.owl Exulceratio simplex Dieulafoy|Dieulafoy disease|Dieulafoy's lesion|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy lesion (hemorrhagic) of stomach and duodenum SCTID:109558001|GARD:0010930|UMLS:C0341217|ICD9:537.84|DOID:12070|ICD10:K31.82 https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion owl:Class HGNC:3151 biolink:NamedThing ECHS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013034 biolink:NamedThing keratosis palmoplantaris striata 2 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. tmpak2llvmy_mondo_relaxed.owl DSP striate palmoplantar keratoderma|keratosis palmoplantaris striata II|striate palmoplantar keratoderma 2|striate palmoplantar keratoderma caused by mutation in DSP|PPKS2|keratoderma, palmoplantar, striate form 2|keratosis palmoplantaris striata type 2 OMIM:612908|MESH:C565102|UMLS:C1852127 owl:Class HGNC:28867 biolink:NamedThing IGF2BP2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000682 biolink:NamedThing time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. tmpak2llvmy_mondo_relaxed.owl DOID:0060152 owl:Class MONDO:0001183 biolink:NamedThing contact lens corneal edema tmpak2llvmy_mondo_relaxed.owl SCTID:49362009|UMLS:C0474442|ICD9:371.24|DOID:11034 owl:Class MONDO:0012170 biolink:NamedThing autosomal recessive nonsyndromic deafness 36 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 36|autosomal recessive nonsyndromic deafness caused by mutation in ESPN|deafness, autosomal dominant, without vestibular involvement|ESPN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 36|DFNB36|deafness, autosomal recessive 36, with or without vestibular involvement|autosomal recessive deafness 36 OMIM:609006|ICD10:H90.3|MESH:C563815|DOID:0110494 owl:Class MONDO:0018063 biolink:NamedThing nodular non-suppurative panniculitis Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. tmpak2llvmy_mondo_relaxed.owl idiopathic lobular panniculitis|Relapsing febrile nodular panniculitis|WCD|Weber-Christian disease|Pfeiffer-Weber-Christian syndrome|panniculitis nodular nonsuppurative|nodular nonsuppurative panniculitis|idiopathic nodular panniculitis|Weber-Christian panniculitis|Relapsing febrile nodular nonsuppurative panniculitis|Weber - Christian disease|Weber Christian disease|nodular non-suppurative febrile panniculitis GARD:0007879|Orphanet:33577|UMLS:C0030328|SCTID:33760009|MESH:D010201|DOID:1525|ICD10:M35.6|MedDRA:10047883|EFO:1000742 owl:Class HGNC:9291 biolink:NamedThing PPP1R3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005398 biolink:NamedThing upper aerodigestive tract neoplasm Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) tmpak2llvmy_mondo_relaxed.owl EFO:0004284|ICD9:239.89|SCTID:439361000 owl:Class HGNC:9364 biolink:NamedThing PRG4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:568 biolink:NamedThing AP3D1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001177 biolink:NamedThing anorectal stricture tmpak2llvmy_mondo_relaxed.owl stenosis of rectum and anus ICD10:K62.4|DOID:11014|ICD9:569.2|SCTID:197216007 owl:Class MONDO:0032928 biolink:NamedThing T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant tmpak2llvmy_mondo_relaxed.owl TLIND|T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT OMIM:618806 owl:Class MONDO:0014353 biolink:NamedThing PGM3-CDG tmpak2llvmy_mondo_relaxed.owl Cid due to PGM3 deficiency|IMD23|phosphoglucomutase 3 deficiency|phosphoglucomutase deficiency type 3|immunodeficiency type 23|immunodeficiency with hyper IgE and cognitive impairment|combined immunodeficiency due to PGM3 deficiency|PGM3-CDG|immunodeficiency-vasculitis-myoclonus syndrome|immunodeficiency 23|PGM3-related congenital disorder of glycosylation UMLS:C4014371|ICD10:E77.8|Orphanet:443811|OMIM:615816|GARD:0004331 owl:Class HGNC:6309 biolink:NamedThing KERA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005859 biolink:NamedThing mucocutaneous leishmaniasis The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. tmpak2llvmy_mondo_relaxed.owl mucocutaneous leishmaniasis, American|mucocutaneous leishmaniasis, (American)|cutaneous leishmaniasis, American|American cutaneous leishmaniasis|New World cutaneous leishmaniasis|American mucocutaneous leishmaniasis EFO:0007379|UMLS:C1328252|UMLS:C3495436|DOID:9155|MESH:D007897|ICD9:085.5|ICD10:B55.2|NCIT:C34769 owl:Class MONDO:0005007 biolink:NamedThing colon mucinous adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpak2llvmy_mondo_relaxed.owl colonic mucinous adenocarcinoma|mucinous colon adenocarcinoma|colloid colon adenocarcinoma|colonic colloid adenocarcinoma|colloid adenocarcinoma of the colon|colon colloid adenocarcinoma|mucinous adenocarcinoma of the colon|colloid adenocarcinoma of colon|mucinous adenocarcinoma of colon|colon colloidal adenocarcinoma|colloidal colon adenocarcinoma|colon mucinous adenocarcinoma|colonic colloidal adenocarcinoma|colloidal adenocarcinoma of colon|colloidal adenocarcinoma of the colon NCIT:C7966|EFO:0000364|DOID:3029|UMLS:C0279639 owl:Class MONDO:0017544 biolink:NamedThing zygodactyly type 3 tmpak2llvmy_mondo_relaxed.owl syndactyly type 1, Montagu type|SD1c|Zygodactyly, Montagu type|syndactyly type 1c|SD1, Montagu type ICD10:Q70.3|ICD10:Q70.0|ICD10:Q70.2|ICD10:Q70.1|Orphanet:295191|UMLS:CN203276 owl:Class MONDO:0018436 biolink:NamedThing megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. tmpak2llvmy_mondo_relaxed.owl megakaryoblastic AML with t(1;22)(p13;q13) ICD10:C94.2|Orphanet:402023|SCTID:763796007 owl:Class MONDO:0000914 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. tmpak2llvmy_mondo_relaxed.owl CASIL|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|dementia, hereditary multi-infarct type|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|CADASIL|CADASIL syndrome|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|CADASIL type 1|CADASIL1|hereditary multi-infarct dementia|CADASIL 1|familial vascular leukoencephalopathy OMIM:125310|DOID:0111035|MedDRA:10065551|GARD:0001049|NCIT:C84606|Orphanet:136|UMLS:C0751587|SCTID:390936003|MESH:D046589|ICD10:F01.1 owl:Class HGNC:6126 biolink:NamedThing IRS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017947 biolink:NamedThing ABeta amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. tmpak2llvmy_mondo_relaxed.owl HCHWA, Italian type|cerebral amyloid angiopathy, APP-related, Italian variant|ABetaE22K amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Italian type Orphanet:324713|ICD10:I68.0*|ICD10:E85.4+ owl:Class MONDO:0004453 biolink:NamedThing testicular yolk sac tumor, myxomatous pattern A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl myxomatous pattern testicular yolk sac tumor|testicular yolk sac tumor, myxomatous pattern DOID:8081|UMLS:C1515309|NCIT:C39929 owl:Class MONDO:0007980 biolink:NamedThing metachromasia of fibroblasts tmpak2llvmy_mondo_relaxed.owl metachromasia of fibroblasts OMIM:156300 owl:Class MONDO:0043206 biolink:NamedThing trichostasis spinulosa Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown. tmpak2llvmy_mondo_relaxed.owl elevated dark spiny papules on the face or trunk|trichostasis spinulosa UMLS:C0263487|GARD:0005269|MESH:C536558|SCTID:21049007 owl:Class MONDO:0020857 biolink:NamedThing ovarian dysgenesis 7 tmpak2llvmy_mondo_relaxed.owl ODG7|OVARIAN DYSGENESIS 7 OMIM:618117|DOID:0080499 owl:Class MONDO:0030934 biolink:NamedThing intellectual developmental disorder, autosomal dominant 64 tmpak2llvmy_mondo_relaxed.owl MRD64|intellectual developmental disorder, autosomal dominant 64|mental retardation, autosomal dominant 64 OMIM:619188 owl:Class MONDO:0017486 biolink:NamedThing radial hemimelia, unilateral tmpak2llvmy_mondo_relaxed.owl radial longitidinal meromelia, unilateral ICD10:Q71.4|Orphanet:295069 owl:Class MONDO:0008036 biolink:NamedThing myasthenia, limb-girdle, autoimmune tmpak2llvmy_mondo_relaxed.owl myasthenia gravis, limb-girdle|myasthenia, limb-girdle, autoimmune MESH:C563552|UMLS:C1834635|OMIM:159400|GARD:0008575 owl:Class MONDO:0032863 biolink:NamedThing spermatogenic failure 41 tmpak2llvmy_mondo_relaxed.owl SPGF41|SPERMATOGENIC FAILURE 41 OMIM:618670 owl:Class MONDO:0004341 biolink:NamedThing colloid carcinoma of the pancreas An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. tmpak2llvmy_mondo_relaxed.owl pancreatic mucinous Noncystic carcinoma|colloid carcinoma of the pancreas|mucinous Noncystic carcinoma DOID:7717|NCIT:C37214|UMLS:C1333081 owl:Class HGNC:7419 biolink:NamedThing MT-CO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017522 biolink:NamedThing hyperphalangy, bilateral tmpak2llvmy_mondo_relaxed.owl supernumerary phalanx, bilateral|supernumerary phalanges, bilateral Orphanet:295142|ICD10:Q74.8 owl:Class MONDO:0030903 biolink:NamedThing Hermansky-Pudlak syndrome 11 tmpak2llvmy_mondo_relaxed.owl HPS11|Hermansky-Pudlak syndrome OMIM:619172 owl:Class MONDO:0019811 biolink:NamedThing tricuspid valve agenesis tmpak2llvmy_mondo_relaxed.owl congenital unguarded tricuspid orifice ICD10:Q22.4|Orphanet:95457 owl:Class NCBITaxon:10298 biolink:NamedThing Human alphaherpesvirus 1 tmpak2llvmy_mondo_relaxed.owl herpes simplex virus type-1 HSV-1|herpes simplex virus type 1 HSV-1|HSV1|Herpes simplex virus 1|Human herpesvirus type 1|Herpes simplex virus type 1|herpes simplex virus HSV-1|Human herpesvirus 1|herpes simplex virus 1 HSV-1|HSV-1|herpes simplex virus type 1 HSV1 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019884 biolink:NamedThing distal trisomy 10q Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. tmpak2llvmy_mondo_relaxed.owl distal duplication 10q|distal trisomy type 10q|trisomy 10qter|telomeric duplication 10q SCTID:718689000|Orphanet:96102|ICD10:Q92.3|MESH:C538087 owl:Class MONDO:0009137 biolink:NamedThing dysmyelination with jaundice tmpak2llvmy_mondo_relaxed.owl dysmyelination with jaundice UMLS:C1857143|MESH:C565610|OMIM:224250 owl:Class MONDO:0007557 biolink:NamedThing epidermolysis bullosa with congenital localized absence of skin and deformity of nails tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa dystrophica, Bart type|epidermolysis bullosa with congenital localized absence of skin and deformity of nails MESH:C562638|DOID:0111347|OMIM:132000|ICD9:757.39|SCTID:2689001 owl:Class MONDO:0019780 biolink:NamedThing anotia Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. tmpak2llvmy_mondo_relaxed.owl ICD10:Q16.0|Orphanet:93976|SCTID:57436000|MedDRA:10002654|ICD10:Q16.1|ICD9:744.01 owl:Class MONDO:0012995 biolink:NamedThing myopia 15, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MYP15|myopia 15, autosomal dominant MESH:C567193|OMIM:612717|UMLS:C2675180 owl:Class MONDO:0007729 biolink:NamedThing developmental dysplasia of the hip 1 tmpak2llvmy_mondo_relaxed.owl developmental dysplasia of the hip 1|hip dysplasia, developmental|DDH1|acetabular dysplasia|hip dysplasia, congenital OMIM:142700 owl:Class MONDO:0025419 biolink:NamedThing furunculosis A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. tmpak2llvmy_mondo_relaxed.owl furuncle|Furuncles|Furunculoses|boils MESH:D005667|NCIT:C34629 owl:Class UBERON:0001141 biolink:NamedThing right renal vein A renal vein that drains the right kidney tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:26988 biolink:NamedThing METTL23 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009457 biolink:NamedThing immunoglobulin d level in plasma, low tmpak2llvmy_mondo_relaxed.owl IMMUNOGLOBULIN D level in plasma, LOW OMIM:242890 owl:Class NCBITaxon:29263 biolink:NamedThing tick-borne encephalitis virus group tmpak2llvmy_mondo_relaxed.owl Tick-borne encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:223472 biolink:NamedThing Psoroptidia tmpak2llvmy_mondo_relaxed.owl Sarcoptidia GC_ID:1 NCBITaxon:261182 ncbi_taxonomy owl:Class MONDO:0054602 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis, 2 tmpak2llvmy_mondo_relaxed.owl gaze palsy, familial horizontal, with progressive scoliosis, 2|HGPPS2 UMLS:C4479640|OMIM:617542 owl:Class MONDO:0010365 biolink:NamedThing myopathy, congenital, with fiber-type disproportion, X-linked tmpak2llvmy_mondo_relaxed.owl CFTDX|myopathy, congenital, with fiber-type disproportion, X-linked DOID:0111226|OMIM:300580|MESH:C567594|UMLS:C2749128 owl:Class MONDO:0015694 biolink:NamedThing malignant melanoma of the mucosa A melanoma (disease) that involves the mucosa. tmpak2llvmy_mondo_relaxed.owl mucosa melanoma (disease)|mucosa melanoma|melanoma (disease) of mucosa Orphanet:168999|UMLS:CN200193|GARD:0012649 owl:Class UBERON:8410015 biolink:NamedThing arteriole of colon An arteriole located in the colon. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022113 biolink:NamedThing central centrifugal cicatricial alopecia tmpak2llvmy_mondo_relaxed.owl CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA|central centrifugal alopecia|central centrifugal cicatricial alopecia|CCCA|hot comb alopecia OMIM:618352|ICD9:704.09|SCTID:109441000119102|GARD:0010826|UMLS:C1274708 https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia owl:Class MONDO:0014044 biolink:NamedThing dysmorphism-conductive hearing loss-heart defect syndrome A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears. tmpak2llvmy_mondo_relaxed.owl TYSHCHENKO syndrome ICD10:Q87.8|OMIM:615102|UMLS:C3554774|Orphanet:289553|SCTID:763279007 owl:Class HGNC:3765 biolink:NamedThing FLT3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011798 biolink:NamedThing hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration tmpak2llvmy_mondo_relaxed.owl hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration|harp syndrome UMLS:C1846582|OMIM:607236|Orphanet:157855|MESH:C564603 owl:Class MONDO:0018521 biolink:NamedThing squamous cell carcinoma of pancreas A squamous cell carcinoma that involves the pancreas. tmpak2llvmy_mondo_relaxed.owl pancreatic squamous cell carcinoma|pancreas squamous cell carcinoma|squamous cell carcinoma of the pancreas ICD10:C25.2|UMLS:CN237524|UMLS:C2675993|DOID:0080323|ICD10:C25.8|ICD10:C25.1|Orphanet:424039|ICD10:C25.0|ICD10:C25.7 owl:Class HGNC:25815 biolink:NamedThing CEP63 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018245 biolink:NamedThing 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. tmpak2llvmy_mondo_relaxed.owl Del(2)(p21) without cystinuria Orphanet:369881|ICD10:Q93.5|UMLS:CN204807 owl:Class GO:0061844 biolink:NamedThing antimicrobial humoral immune response mediated by antimicrobial peptide An immune response against microbes mediated by anti-microbial peptides in body fluid. tmpak2llvmy_mondo_relaxed.owl peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response owl:Class MONDO:0007040 biolink:NamedThing Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. tmpak2llvmy_mondo_relaxed.owl ACPS 3|acrocephalopolysyndactyly type 3|Sakati syndrome|acrocephalopolysyndactyly type III|Sakati-Nyhan-Tisdale syndrome|Sakati-Nyhan syndrome|ACPS with leg hypoplasia|ACPS3 MESH:C537227|DOID:0060359|SCTID:403768004|ICD10:Q87.0|OMIM:101120|GARD:0000115|UMLS:C1275079|Orphanet:3128 owl:Class HGNC:18501 biolink:NamedThing RPS4Y2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014362 biolink:NamedThing chromosome 16 inversion, 0.45-Mb tmpak2llvmy_mondo_relaxed.owl chromosome 16 inversion, 0.45-Mb OMIM:615835 owl:Class MONDO:0060758 biolink:NamedThing spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits|SCA42ND OMIM:618087 owl:Class HGNC:18571 biolink:NamedThing XKRY tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004564 biolink:NamedThing thyroid malformation An anatomic abnormality of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl thyroid gland malformation DOID:8433|NCIT:C27331 owl:Class MONDO:0009095 biolink:NamedThing dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|dermatoosteolysis, Kirghizian type|Kirghizian Dermatoosteolysis|Dermatoosteolysis Kirghizian type GARD:0001814|SCTID:721090002|Orphanet:1657|UMLS:C1857301|OMIM:221810|MESH:C535373 https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type owl:Class MONDO:0020430 biolink:NamedThing cor triatriatum sinister Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy. tmpak2llvmy_mondo_relaxed.owl cor triatriatum sinistrum|divided left atrium SCTID:253353007|GARD:0012484|ICD10:Q24.2|ICD9:746.89|Orphanet:99099 https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister owl:Class MONDO:0019982 biolink:NamedThing bilateral multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. tmpak2llvmy_mondo_relaxed.owl bilateral MCDK|Pelvi-ureteric junction obstruction|MRD|PUJO|bilateral multicystic renal dysplasia SCTID:717749002|Orphanet:97364|ICD10:Q61.4|GARD:0009517 owl:Class NCBITaxon:2560525 biolink:NamedThing Human orthorubulavirus 2 tmpak2llvmy_mondo_relaxed.owl HPIV2|PIV-2|Human parainfluenza virus type 2|Human parainfluenza virus 2|Parainfluenza virus type 2|human parainfluenza virus|Human rubulavirus 2|Human parainfluenza 2 virus|HPIV-2 GC_ID:1 NCBITaxon:1979160|NCBITaxon:11199|NCBITaxon:11212 ncbi_taxonomy owl:Class MONDO:0017610 biolink:NamedThing epidermolysis bullosa simplex Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. tmpak2llvmy_mondo_relaxed.owl EEB|epidermolysis bullosa simplex|EBS|epidermolysis bullosa intraepidermic DOID:4644|ICD9:757.39|SCTID:67144006|NCIT:C84692|MESH:D016110|ICD10:Q81.0|GARD:0010752|Orphanet:304|UMLS:C0079298 https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex owl:Class MONDO:0001368 biolink:NamedThing phthisical cornea tmpak2llvmy_mondo_relaxed.owl ICD9:371.05|DOID:11793|UMLS:C0155102|SCTID:28143002 owl:Class MONDO:0001978 biolink:NamedThing regional ureteric cancer Carcinoma of the ureter without spread to any other region. tmpak2llvmy_mondo_relaxed.owl regional ureteric carcinoma|regional ureter carcinoma|regional malignant ureteral tumor UMLS:C0854921|NCIT:C9356|DOID:14491 owl:Class MONDO:0017944 biolink:NamedThing invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. tmpak2llvmy_mondo_relaxed.owl iNTS disease|invasive non-typhoidal salmonella disease ICD10:A02.0|ICD10:A02.9|SCTID:763772002|ICD10:A02.2|ICD10:A02.8|ICD10:A02.1|Orphanet:324648 owl:Class MONDO:0043087 biolink:NamedThing thickened earlobes with conductive deafness from incus-stapes abnormalities tmpak2llvmy_mondo_relaxed.owl conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|thickened earlobes with conductive deafness from incus-stapes abnormalities|Schweitzer Kemink Graham syndrome GARD:0002034|UMLS:C2931222|MESH:C536511 owl:Class MONDO:0032936 biolink:NamedThing myopathy, congenital, with respiratory insufficiency and bone fractures tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES|MYORIBF OMIM:618822 owl:Class MONDO:0019396 biolink:NamedThing collagen type III glomerulopathy Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. tmpak2llvmy_mondo_relaxed.owl Collagenofibrotic glomerulopathy Orphanet:84087|SCTID:708127008|UMLS:CN206095|UMLS:C3872695|ICD9:583.89|ICD10:N07.6 owl:Class MONDO:0005861 biolink:NamedThing multidrug-resistant tuberculosis Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis. tmpak2llvmy_mondo_relaxed.owl MDR-TB|multidrug-resistant TB MESH:D018088|EFO:0007381|SCTID:423092005|NCIT:C128415|UMLS:C0206526|DOID:401 owl:Class MONDO:0003862 biolink:NamedThing melanotic psammomatous malignant peripheral nerve sheath tumor A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. tmpak2llvmy_mondo_relaxed.owl melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous MPNST DOID:6344|UMLS:C1513101|NCIT:C6910 owl:Class MONDO:0003863 biolink:NamedThing malignant melanocytic neoplasm of the peripheral nerve sheath A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. tmpak2llvmy_mondo_relaxed.owl melanotic malignant peripheral nerve sheath tumor|malignant melanotic peripheral nerve sheath tumor|melanotic malignant nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant melanocytic neoplasm of the peripheral nerve sheath|melanocytic MPNST|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanocytic peripheral nerve sheath tumor|melanotic malignant peripheral nerve sheath tumour UMLS:C0474847|NCIT:C4748|DOID:6345|SCTID:404039004|ICD9:171.9 owl:Class MONDO:0100074 biolink:NamedThing norovirus infectious disease Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0000333 biolink:NamedThing intestinal gland A gland that is part of the intestinal mucosa. Examples include the intestinal crypts, duodenal gland[cjm]. tmpak2llvmy_mondo_relaxed.owl mucosa of intestine gland|bowel organ mucosa gland|bowel mucous membrane gland|bowel mucosa of organ gland|gland of bowel mucosa|gland of bowel mucous membrane|gland of mucous membrane of intestine|intestine mucous membrane gland|mucosa of organ of intestine gland|gland of intestinal mucosa|bowel mucosa gland|gland of mucosa of organ of bowel|intestinal mucosa gland|gland of bowel mucosa of organ|gland of bowel organ mucosa|gland of intestine mucous membrane|gland of intestine mucosa|gland of intestine mucosa of organ|mucous membrane of bowel gland|gland of intestine organ mucosa|intestine organ mucosa gland|mucosa of organ of bowel gland|gland of mucosa of organ of intestine|gland of organ mucosa of bowel|mucosa of bowel gland|organ mucosa of bowel gland|organ mucosa of intestine gland|mucous membrane of intestine gland|glandulae intestinales|gland of organ mucosa of intestine|glandula intestinalis|gland of mucosa of bowel|gland of mucosa of intestine|gland of mucous membrane of bowel|intestine mucosa gland|intestine mucosa of organ gland owl:Class MONDO:0011661 biolink:NamedThing inflammatory bowel disease 5 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 5|inflammatory bowel disease type 5|IBD5 DOID:0110889|OMIM:606348|UMLS:C1853438|MESH:C565234 owl:Class NCBITaxon:156300 biolink:NamedThing Chaetothyriales incertae sedis tmpak2llvmy_mondo_relaxed.owl GC_ID:1 NCBITaxon:36051 ncbi_taxonomy owl:Class MONDO:0016437 biolink:NamedThing late-onset focal dermal elastosis Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. tmpak2llvmy_mondo_relaxed.owl PXE-like late-onset focal dermal elastosis|pseudoxanthoma-like late-onset focal dermal elastosis Orphanet:228227 owl:Class MONDO:0015045 biolink:NamedThing alpha-heavy chain disease Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. tmpak2llvmy_mondo_relaxed.owl Mediterranean abdominal lymphoma|Alpha heavy chain disease|Immunoproliferative small intestinal disease|IPSID|Alpha-HCD|Mediterranean lymphoma|alpha chain disease|Seligmann's disease|Mediterraneanl lymphoma MESH:D007161|ICDO:9764/3|DOID:0060126|ICDO:9760/3|NCIT:C3132|ICD10:C88.3|Orphanet:100025|EFO:1001798|UMLS:C0021071 owl:Class MONDO:0030978 biolink:NamedThing endove syndrome, limb-only type tmpak2llvmy_mondo_relaxed.owl ENDOVESL|Mesomelia of Lower Extremities With Hand and Foot Anomalies OMIM:619217 owl:Class MONDO:0003211 biolink:NamedThing nasal cavity adenocarcinoma A carcinoma that arises from glandular epithelial cells of the nasal cavity tmpak2llvmy_mondo_relaxed.owl nasal cavity adenocarcinoma|adenocarcinoma of the nasal cavity|adenocarcinoma of nasal cavity NCIT:C6015|DOID:4930|UMLS:C1334920 owl:Class MONDO:0020983 biolink:NamedThing myocardial rupture Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). tmpak2llvmy_mondo_relaxed.owl Heart Ruptures|Cardiac Ruptures|Cardiac Rupture|Heart Rupture|Ventricular Free Wall Rupture|Cardiac Free Wall Rupture|Free Wall Rupture, Heart|Myocardial Rupture|Rupture of heart MESH:D006341|UMLS:C0018813|GARD:0010468 owl:Class MONDO:0012916 biolink:NamedThing chromosome 2p16.1-p15 deletion syndrome 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl monosomy 2p15-p16.1|2p15-p16.1 microdeletion syndrome|monosomy 2p15p16.1|2p15p16.1 microdeletion syndrome|Del(2)(p15p16.1)|chromosome 2p16.1-p15 deletion syndrome GARD:0013391|Orphanet:261349|OMIM:612513|UMLS:C2675875|UMLS:C4304538|SCTID:719651000|MESH:C567289|DOID:0060415|ICD10:Q93.5 owl:Class NCBITaxon:11149 biolink:NamedThing Transmissible gastroenteritis virus tmpak2llvmy_mondo_relaxed.owl porcine transmissible gastroenteritis virus|transmissible gastroenteritis virus TGEV|Porcine transmissable gastroenteritis coronavirus|TGEV|Porcine transmissible gastroenteritis coronavirus|transmissible gastroenteritis coronavirus GC_ID:1 NCBITaxon:12859 ncbi_taxonomy owl:Class MONDO:0019825 biolink:NamedThing congenital coronary artery aneurysm Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. tmpak2llvmy_mondo_relaxed.owl congenital coronary aneurysm ICD10:Q24.5|SCTID:204378009|Orphanet:95491 owl:Class MONDO:0014563 biolink:NamedThing mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency tmpak2llvmy_mondo_relaxed.owl ECHS1D|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency UMLS:C4225391|GARD:0013019|OMIM:616277 owl:Class MONDO:0011926 biolink:NamedThing psoriasis 9, susceptibility to tmpak2llvmy_mondo_relaxed.owl psoriasis 9, susceptibility to|PSORS9 OMIM:607857|DOID:0111284 owl:Class HGNC:16406 biolink:NamedThing EFHC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006981 biolink:NamedThing subacute bacterial endocarditis Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. tmpak2llvmy_mondo_relaxed.owl SBE - Subacute bacterial endocarditis|Subacute bacterial endocarditis|Subacute endocarditis, lenta|endocarditis lenta|SBE EFO:1001193|NCIT:C34583|DOID:4562|MESH:D004698|UMLS:C0014122|MedDRA:10042271|SCTID:73774007 owl:Class HGNC:18391 biolink:NamedThing SCGB3A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007934 biolink:NamedThing benign concentric annular macular dystrophy Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration. tmpak2llvmy_mondo_relaxed.owl macular dystrophy, concentric annular|maculopathy, bull's eye|Mcdca|macular dystrophy, benign concentric annular Orphanet:251287|GARD:0009887|SCTID:719520001|OMIM:153870|ICD10:H35.5|MESH:C537833|UMLS:C4304667 owl:Class MONDO:0019103 biolink:NamedThing benign exophthalmos syndrome Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. tmpak2llvmy_mondo_relaxed.owl bes UMLS:C4304668|ICD10:H05.2|SCTID:719519007|Orphanet:71269 owl:Class MONDO:0006610 biolink:NamedThing skin atrophy The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. tmpak2llvmy_mondo_relaxed.owl atrophic condition of skin|atrophy - skin|atrophic skin|atrophy of skin|atrophoderma DOID:2733|SCTID:400190005|NCIT:C35163|EFO:1000766|Wikipedia:Steroid_atrophy|ICD10:L90.9|ICD10:L90|ICD9:701.8|UMLS:C0151514 owl:Class MONDO:0009646 biolink:NamedThing Monosomy 7 myelodysplasia and leukemia syndrome 1 tmpak2llvmy_mondo_relaxed.owl myelodysplasia and leukemia syndrome with monosomy 7|monosomy 7 of bone marrow|M7MLS1|chromosome 7Q deletion OMIM:252270|UMLS:C1854978|MESH:C565370 owl:Class MONDO:0032835 biolink:NamedThing spondyloepiphyseal dysplasia, nishimura type tmpak2llvmy_mondo_relaxed.owl SEDN|SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM:618618 owl:Class HP:0001581 biolink:NamedThing Recurrent skin infections Infections of the skin that happen multiple times. tmpak2llvmy_mondo_relaxed.owl Cutaneous infections|Recurrent skin infections|Skin infections, recurrent UMLS:C1853193 HP:0007563 human_phenotype owl:Class MONDO:0011856 biolink:NamedThing spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome tmpak2llvmy_mondo_relaxed.owl SmD with with bowed forearms and facial dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism GARD:0008719|UMLS:C1843706|ICD10:Q77.8|Orphanet:168552|MESH:C535791|OMIM:607543 owl:Class MONDO:0001802 biolink:NamedThing acute tympanitis tmpak2llvmy_mondo_relaxed.owl acute myringitis ICD9:384.00|ICD10:H73.009|UMLS:C0155460|ICD10:H73.0|ICD10:H73.00|DOID:13790|SCTID:297009 owl:Class MONDO:0011074 biolink:NamedThing autosomal dominant nonsyndromic deafness 7 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23. tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 7|autosomal dominant deafness 7|DFNA7|deafness, autosomal dominant 7 MESH:C563321|ICD10:H90.3|OMIM:601412|UMLS:C1832379|DOID:0110591 owl:Class MONDO:0015250 biolink:NamedThing spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. tmpak2llvmy_mondo_relaxed.owl Hamano-Tsukamoto syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms|Hamano Tsukamoto syndrome|spinal atrophy ophthalmoplegia pyramidal syndrome GARD:0004942|Orphanet:1217|MESH:C535625|UMLS:C2930956|ICD10:G12.2 https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome owl:Class MONDO:0017816 biolink:NamedThing primary systemic amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. tmpak2llvmy_mondo_relaxed.owl systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis|systemic AL amyloidosis ICD10:E85.3|ICD10:E85.2|SCTID:89449005|UMLS:C0281479|ICD10:E85.0|NCIT:C8299|UMLS:C0268380|Orphanet:314701|ICD10:E85.1 owl:Class MONDO:0008778 biolink:NamedThing amyloidosis, cutaneous bullous tmpak2llvmy_mondo_relaxed.owl amyloidosis, cutaneous bullous MESH:C562644|SCTID:38606009|OMIM:204900|UMLS:C0268399|ICD9:277.39 owl:Class MONDO:0017721 biolink:NamedThing Sandhoff disease, infantile form tmpak2llvmy_mondo_relaxed.owl infantile GM2 gangliosidosis 0 variant|Hexosaminidases A and B deficiency, infantile form ICD10:E75.0|UMLS:CN203617|Orphanet:309155 owl:Class MONDO:0023182 biolink:NamedThing Franceschini Vardeu Guala syndrome tmpak2llvmy_mondo_relaxed.owl MESH:C537272|UMLS:C2931463|GARD:0002371 https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome owl:Class MONDO:0012305 biolink:NamedThing photoparoxysmal response 3 tmpak2llvmy_mondo_relaxed.owl photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3|PPR3 OMIM:609573|UMLS:C1835966|MESH:C563695 owl:Class MONDO:0007738 biolink:NamedThing spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. tmpak2llvmy_mondo_relaxed.owl bifurcation of distal humerus with oligoectro-syndactyly|Gollop Coates syndrome|chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia with congenital joint dislocations|chondrodysplasia with congenital joint dislocations, CHST3 type|Omani type|spondyloepiphyseal dysplasia, Omani type|spondyloepiphyseal dysplasia with congenital JOINT dislocations|SDCD, CHST3 type|Kozlowski Celermajer tink syndrome|SEDCJD|CHST3-related skeletal dysplasia|spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|Humerospinal dysostosis|humero-spinal dysostosis with congenital heart disease ICD9:756.9|ICD10:Q74.8|DOID:0050813|GARD:0002533|OMIM:143095|SCTID:702400006|Orphanet:263463|MESH:C537283 https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome owl:Class MONDO:0006163 biolink:NamedThing colorectal serrated adenocarcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. tmpak2llvmy_mondo_relaxed.owl colorectal serrated adenocarcinoma EFO:1000196|ICDO:8213/3|NCIT:C96485|UMLS:C3272809 owl:Class MONDO:0003643 biolink:NamedThing giant hemangioma A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. tmpak2llvmy_mondo_relaxed.owl giant hemangioma UMLS:C1333817|DOID:5774|NCIT:C27777 owl:Class NCBITaxon:2732534 biolink:NamedThing Piccovirales tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006742 biolink:NamedThing endemic goiter Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. tmpak2llvmy_mondo_relaxed.owl simple goiter|iodine-deficiency-related endemic goitre|simple goitre MedDRA:10068848|SCTID:56805008|ICD10:E01.0|ICD9:240.0|DOID:13198|MESH:D006043|NCIT:C35023|ICD10:E01.2|EFO:1000916 owl:Class MONDO:0001665 biolink:NamedThing oculoglandular tularemia A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. tmpak2llvmy_mondo_relaxed.owl ICD9:021.3|ICD10:A21.1|UMLS:C0152944|SCTID:73363000|DOID:13226 owl:Class MONDO:0012607 biolink:NamedThing asthma-related traits, susceptibility to, 5 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene. tmpak2llvmy_mondo_relaxed.owl inherited susceptibility to asthma caused by mutation in IRAK3|IRAK3 inherited susceptibility to asthma|ASRT5|asthma-related traits, susceptibility to, type 5|asthma-related traits, susceptibility to, 5 OMIM:611064 owl:Class MONDO:0013682 biolink:NamedThing vesicoureteral reflux 4 tmpak2llvmy_mondo_relaxed.owl vesicoureteral reflux 4|VUR4 UMLS:C3280439|OMIM:614317 owl:Class MONDO:0009649 biolink:NamedThing moyamoya disease 1 tmpak2llvmy_mondo_relaxed.owl MYMY1|spontaneous occlusion of the circle of Willis|Moyamoya disease|Moyamoya disease 1 ICD9:437.5|OMIM:252350|SCTID:69116000 owl:Class MONDO:0006753 biolink:NamedThing Escherichia coli meningitis A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) tmpak2llvmy_mondo_relaxed.owl UMLS:C0338395|ICD9:320.7|ICD9:320.82|EFO:1000929|MESH:D020814|SCTID:192655005 owl:Class MONDO:0018525 biolink:NamedThing solid pseudopapillary carcinoma of pancreas A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues. tmpak2llvmy_mondo_relaxed.owl solid pseudopapillary carcinoma of the pancreas|solid pseudopapillary carcinoma of pancreas|solid pseudopapillary neoplasm of the pancreas|pancreatic solid pseudopapillary carcinoma ICD10:C25.8|Orphanet:424065|NCIT:C5728|ICD10:C25.1|DOID:6827|ICDO:8452/3|EFO:1000542|UMLS:C1336029|ICD10:C25.0|ICD10:C25.7|ICD10:C25.2 owl:Class MONDO:0004256 biolink:NamedThing lumbar spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the lumbar region of the spinal cord. tmpak2llvmy_mondo_relaxed.owl lumbar intraspinal meningioma|meningioma of lumbar spinal canal and spinal cord|meningioma of the lumbar spinal canal and spinal cord UMLS:C1334436|NCIT:C5298|DOID:7515 owl:Class MONDO:0012377 biolink:NamedThing asperger syndrome, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 4|ASPG4 OMIM:609954 owl:Class NCBITaxon:1570301 biolink:NamedThing Saccotheciaceae tmpak2llvmy_mondo_relaxed.owl Saccotheciei|Aureobasidiaceae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023038 biolink:NamedThing eccentrochondrodysplasia tmpak2llvmy_mondo_relaxed.owl GARD:0006314 https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia owl:Class HGNC:3705 biolink:NamedThing FIBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014971 biolink:NamedThing amelogenesis imperfecta, hypomaturation type, IIa6 tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6|AI2A6 UMLS:C4310665|OMIM:617217 owl:Class MONDO:0019839 biolink:NamedThing panhypophysitis tmpak2llvmy_mondo_relaxed.owl Infundibulo-panhypophysitis ICD10:E23.6|Orphanet:95513 owl:Class MONDO:0016039 biolink:NamedThing infantile digital fibromatosis tmpak2llvmy_mondo_relaxed.owl Reye tumor|recurring digital fibrous tumor of childhood|inclusion body fibromatosis|IDF|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes ICD9:238.8|GARD:0008487|Orphanet:199267|ICD10:M72.8|SCTID:399903008|UMLS:C1318562 https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis owl:Class MONDO:0013132 biolink:NamedThing hereditary spastic paraplegia 36 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. tmpak2llvmy_mondo_relaxed.owl autosomal dominant spastic paraplegia 36|spastic paraplegia 36, autosomal dominant|hereditary spastic paraplegia type 36|autosomal dominant spastic paraplegia type 36|SPG36 ICD10:G11.4|UMLS:C4510078|OMIM:613096|SCTID:723819007|MESH:C567930|Orphanet:320365|DOID:0110787|UMLS:C2936879 owl:Class MONDO:0008148 biolink:NamedThing osteogenesis imperfecta type 4 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). tmpak2llvmy_mondo_relaxed.owl OI4|OI type IV|osteogenesis imperfecta, type IV|osteogenesis imperfecta type IV|common variable OI with normal sclerae|osteogenesis imperfecta with normal sclerae|osteogenesis imperfecta, type 4|OI, type 4|osteogenesis imperfecta with normal sclera|OI type 4 ICD10:Q78.0|MESH:C536045|DOID:0110340|OMIM:166220|NCIT:C98576|GARD:0008696|Orphanet:216820|SCTID:205497004|UMLS:C0268363 owl:Class NCBITaxon:5579 biolink:NamedThing Aureobasidium tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022468 biolink:NamedThing antigen-peptide-transporter 2 deficiency An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. tmpak2llvmy_mondo_relaxed.owl antigen processing (TAP) deficiency syndrome|TAP 2 deficiency GARD:0000732 https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency owl:Class MONDO:0012751 biolink:NamedThing aortic aneurysm, familial abdominal, 3 tmpak2llvmy_mondo_relaxed.owl AAA3|aortic aneurysm, familial abdominal, 3 MESH:C567501|OMIM:611891|UMLS:C2678470 owl:Class HGNC:12517 biolink:NamedThing UCP1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:25792 biolink:NamedThing USB1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0043096 biolink:NamedThing holoacardius amorphus tmpak2llvmy_mondo_relaxed.owl Holoacardius amorphus|fetus anideus|amorphous globosus|amorphus globosus Orphanet:2161|SCTID:41049003|GARD:0002720 owl:Class MONDO:0007530 biolink:NamedThing electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon tmpak2llvmy_mondo_relaxed.owl electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon OMIM:130200 owl:Class MONDO:0018977 biolink:NamedThing polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. tmpak2llvmy_mondo_relaxed.owl neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein|anti-MAG neuropathy ICD10:G61.8|UMLS:C1736154|Orphanet:639 owl:Class HGNC:6930 biolink:NamedThing MC2R tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015413 biolink:NamedThing median cleft of the upper lip and maxilla Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. tmpak2llvmy_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141239 owl:Class HGNC:7316 biolink:NamedThing MS4A2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001015 biolink:NamedThing eosinophilic meningitis Meningitis in which eosinophils predominate in the cerebrospinal fluid. tmpak2llvmy_mondo_relaxed.owl SCTID:25671008|DOID:10361|ICD9:322.1|UMLS:C0154652|NCIT:C128374 owl:Class MONDO:0016531 biolink:NamedThing digestive duplication tmpak2llvmy_mondo_relaxed.owl ICD10:Q45.8|Orphanet:238 owl:Class MONDO:0020378 biolink:NamedThing early-onset posterior polar cataract tmpak2llvmy_mondo_relaxed.owl Orphanet:98993|ICD10:Q12.0 owl:Class UBERON:0001071 biolink:NamedThing superficial cervical artery It ascends beneath the anterior margin of the trapezius, distributing branches to it, and to the neighboring muscles and lymph glands in the neck, and anastomosing with the superficial branch of the descending branch of the occipital artery. tmpak2llvmy_mondo_relaxed.owl superficial branch of transverse cervical artery owl:Class MONDO:0015716 biolink:NamedThing moderately severe hemophilia B Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl moderately severe hemophilia type B|moderately severe factor IX deficiency UMLS:CN200228|Orphanet:169796|ICD10:D67 owl:Class MONDO:0016514 biolink:NamedThing epidermolysis bullosa simplex with anodontia/hypodontia tmpak2llvmy_mondo_relaxed.owl Gamborg-Nielsen syndrome|Kallin syndrome ICD10:Q81.0|Orphanet:2325 owl:Class MONDO:0034846 biolink:NamedThing primary desmosis coli A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. tmpak2llvmy_mondo_relaxed.owl ICD10:K59.9|Orphanet:565641 owl:Class MONDO:0015534 biolink:NamedThing juvenile xanthogranuloma A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. tmpak2llvmy_mondo_relaxed.owl Naevoxanthoendothelioma|JXG|multiple eruptive juvenile xanthogranuloma|juvenile xanthogranuloma|xanthoma neviforme Orphanet:158000|DOID:4424|EFO:1000311|NCIT:C3451|MESH:D014972|SCTID:400204000|UMLS:C0043324|ICD10:D76.3 owl:Class ECTO:9002062 biolink:NamedThing exposure to food propellant An exposure to food propellant. tmpak2llvmy_mondo_relaxed.owl exposure to food propellant owl:Class MONDO:0010016 biolink:NamedThing sclerosteosis 1 Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene. tmpak2llvmy_mondo_relaxed.owl sclerosteosis 1|SOST|sclerosteosis type 1|cortical hyperostosis with syndactyly|sclerosteosis caused by mutation in SOST|SOST1|SOST sclerosteosis UMLS:CN032489|ICD10:M85.2|OMIM:269500|DOID:0060756 owl:Class NCBITaxon:480418 biolink:NamedThing Mycobacterium lepromatosis tmpak2llvmy_mondo_relaxed.owl GC_ID:11|PMID:25831531|PMID:19019760 ncbi_taxonomy owl:Class MONDO:0012103 biolink:NamedThing spinocerebellar ataxia type 25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 25|SCA25 MESH:C537202|GARD:0009996|Orphanet:101111|SCTID:718770005|OMIM:608703|DOID:0050974|UMLS:C1837518|ICD10:G11.8 owl:Class MONDO:0010849 biolink:NamedThing palmoplantar keratoderma, Bothnian type tmpak2llvmy_mondo_relaxed.owl palmoplantar keratoderma, Bothnian type|PPKB GARD:0001862|OMIM:600231|DOID:0111707 owl:Class MONDO:0033259 biolink:NamedThing deafness, autosomal dominant 72 tmpak2llvmy_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 72|deafness, autosomal dominant 72|DFNA72 DOID:0080268|OMIM:617606 owl:Class MONDO:0030880 biolink:NamedThing mandibuloacral dysplasia progeroid syndrome tmpak2llvmy_mondo_relaxed.owl MDPS OMIM:619127 owl:Class MONDO:0024607 biolink:NamedThing congenital muscular dystrophy with cataracts and intellectual disability A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. tmpak2llvmy_mondo_relaxed.owl MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability DOID:0080197|OMIM:617404|EFO:0009149|UMLS:C4479410 owl:Class HGNC:11596 biolink:NamedThing TBX19 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0003111 biolink:NamedThing Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. tmpak2llvmy_mondo_relaxed.owl Electrolyte disorders|Abnormality of ion homeostasis UMLS:C1704431|UMLS:C4025654|SNOMEDCT_US:237840007 HP:0003253 human_phenotype owl:Class MONDO:0012681 biolink:NamedThing febrile seizures, familial, 7 tmpak2llvmy_mondo_relaxed.owl FEB7|febrile seizures, familial, 7|febrile convulsions, familial, 7 OMIM:611515|MESH:C566929|UMLS:C1969087|DOID:0111311 owl:Class MONDO:0025622 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 tmpak2llvmy_mondo_relaxed.owl CMTMA1 OMIM:500013 owl:Class MONDO:0022402 biolink:NamedThing agyria-pachygyria type 1 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. tmpak2llvmy_mondo_relaxed.owl type I lissencephaly|Bielchowsky type of lissencephaly GARD:0000573 https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1 owl:Class GO:0035150 biolink:NamedThing regulation of tube size Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012001 biolink:NamedThing mandibulofacial dysostosis with ptosis, autosomal dominant tmpak2llvmy_mondo_relaxed.owl mandibulofacial dysostosis with ptosis, autosomal dominant MESH:C564267|OMIM:608257|UMLS:C1842349 owl:Class HGNC:1492 biolink:NamedThing SHPK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011175 biolink:NamedThing Friedreich ataxia 2 Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11 tmpak2llvmy_mondo_relaxed.owl Friedreich ataxia 2|FRDA2 DOID:0111219|MESH:C566594|OMIM:601992|UMLS:C1865981 owl:Class MONDO:0012628 biolink:NamedThing coronary heart disease, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl CHDS8|coronary heart disease, susceptibility to, 8 OMIM:611139 owl:Class MONDO:0009813 biolink:NamedThing chronic recurrent multifocal osteomyelitis Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. tmpak2llvmy_mondo_relaxed.owl osteomyelitis, chronic multifocal|non-bacterial osteomyelitis|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|chronic recurrent multifocal osteomyelitis|NBO|CRMO|CMO|chronic recurrent multifocal osteomyelitis (disease)|chronic multifocal osteomyelitis|CNO/CRMO|multifocal osteomyelitis, chronic chronic recurrent multifocal osteomyelitis (disease) ICD10:M86.3|SCTID:240151005|MESH:C535456|UMLS:C0410422|OMIM:259680|HP:0002754|DOID:0060645|NCIT:C119042|Orphanet:324964|GARD:0006108 owl:Class MONDO:0043193 biolink:NamedThing richieri-costa guion-almeida cohen syndrome tmpak2llvmy_mondo_relaxed.owl acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-costa Guion-Almeida Cohen syndrome|overgrowth - craniosynostosis - arthrogryposis|Richieri Costa Guion-Almeida dwarfism MESH:C535676|UMLS:C2930979|GARD:0004712 owl:Class FOODON:00001871 biolink:NamedThing food product analog tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011103 biolink:NamedThing autosomal dominant nonsyndromic deafness 3A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. tmpak2llvmy_mondo_relaxed.owl neurosensory nonsyndromic dominant deafness 1|DFNA3A|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|NSRD1|deafness, autosomal dominant nonsyndromic sensorineural 3|autosomal dominant nonsyndromic deafness type 3A|autosomal dominant deafness 3A|deafness, autosomal dominant type 3A|DFNA3|GJB2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 3A MESH:C567277|UMLS:C2675750|ICD10:H90.3|DOID:0110564|GARD:0009933|OMIM:601544 Editor note: consider adding grouping for 3A/3B owl:Class MONDO:0004164 biolink:NamedThing lymphoepithelioma-like acinar prostate adenocarcinoma A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates. tmpak2llvmy_mondo_relaxed.owl acinar prostate adenocarcinoma, lymphoepithelioma-like variant|lymphoepithelioma-like variant acinar prostate adenocarcinoma NCIT:C39885|DOID:7246|UMLS:C1515864 owl:Class MONDO:0020717 biolink:NamedThing autosomal dominant woolly hair tmpak2llvmy_mondo_relaxed.owl ADWH OMIM:194300|DOID:0111573 owl:Class MONDO:0030973 biolink:NamedThing immunodeficiency 77 tmpak2llvmy_mondo_relaxed.owl IMD77|immunodeficiency 77 OMIM:619223 owl:Class MONDO:0044640 biolink:NamedThing charcot-marie-tooth disease type 2T tmpak2llvmy_mondo_relaxed.owl autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|AR-CMT2T|CMT2T UMLS:CN237675|Orphanet:495274 owl:Class MONDO:0012388 biolink:NamedThing myopia 11, autosomal dominant tmpak2llvmy_mondo_relaxed.owl myopia 11, autosomal dominant|MYP11 UMLS:C1864941|OMIM:609994|MESH:C566490 owl:Class MONDO:0016099 biolink:NamedThing overlap myositis Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature. tmpak2llvmy_mondo_relaxed.owl non-specific myositis|adult-onset overlap myositis Orphanet:206572 owl:Class MONDO:0024275 biolink:NamedThing amebic dysentery Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. tmpak2llvmy_mondo_relaxed.owl amebiasis, intestinal|amebic dysentery|Colitides, amoebic|amoebiasis due to Entamoeba histolytica|intestinal Entamoebiases|intestinal Amoebiases|dysenteries, amoebic|Entamoebiases, intestinal|amoebic colitis|amoebiases, intestinal|intestinal Amebiases|amoebic Colitides|colitis, amoebic|intestinal amebiasis|Amebiases, intestinal|entamoebiasis, intestinal|amebic colitis|colitis, amebic|amoebiasis, intestinal|dysentery, amoebic|amoebic dysenteries|intestinal amoebiasis|amoebic dysentery due to Entamoeba histolytica|amebic colitides|amebic dysenteries|Colitides, amebic|amoebic dysentery|intestinal entamoebiasis|dysenteries, amebic GARD:0000652|MESH:D004404|NCIT:C34558 owl:Class MONDO:0016522 biolink:NamedThing Kousseff syndrome Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. tmpak2llvmy_mondo_relaxed.owl sacral meningocele conotruncal heart defects|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck MESH:C537223|ICD10:Q87.8|GARD:0004752|Orphanet:2351|SCTID:726083008|UMLS:C2931444 owl:Class MONDO:0003989 biolink:NamedThing polyembryoma of the ovary A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. tmpak2llvmy_mondo_relaxed.owl polyembryoma|ovarian polyembryoma UMLS:C1514199|DOID:6774|NCIT:C39990|ONCOTREE:OPE owl:Class MONDO:0032604 biolink:NamedThing retinitis pigmentosa 84 tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 84|RP84 OMIM:618220 owl:Class MONDO:0013142 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2B Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, type IIB|neuropathy, hereditary sensory and autonomic, type 2B|hereditary sensory and autonomic neuropathy type IIB|RETREG1 hereditary sensory and autonomic neuropathy type 2|HSAN2B|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|hereditary sensory and autonomic neuropathy type 2B UMLS:C2751092|OMIM:613115|DOID:0070150 owl:Class MONDO:0009860 biolink:NamedThing phenformin 4-hydroxylation tmpak2llvmy_mondo_relaxed.owl phenformin 4-hydroxylation OMIM:261590 owl:Class MONDO:0011086 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. tmpak2llvmy_mondo_relaxed.owl SCID due to complete RAG1-2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID due to complete RAG1/2 deficiency|severe combined immunodeficiency due to complete RAG1-2 deficiency DOID:0090013|UMLS:C1832322|GARD:0010339|ICD10:D81.1|Orphanet:331206|OMIM:601457|MESH:C563311 owl:Class UBERON:0015149 biolink:NamedThing ventral hair A strand of hair that is part of a ventrum. tmpak2llvmy_mondo_relaxed.owl ventral coat hair owl:Class MONDO:0006660 biolink:NamedThing arthus reaction A localized vasculitis resulting from deposition of antibody-antigen complexes. tmpak2llvmy_mondo_relaxed.owl arthus reaction (function)|arthus phenomenon|arthus type urticaria|arthus reaction MedDRA:10003420|NCIT:C34400|MESH:D001183|ICD10:T78.41|SCTID:402413008|ICD9:995.21|UMLS:C0003907|ICD9:708.8|EFO:1000821|DOID:1556 Editor note: DO classifies as type III, NCIT as type I owl:Class MONDO:0008969 biolink:NamedThing cholesterol pneumonia tmpak2llvmy_mondo_relaxed.owl familiaere cholesterin-Pneumonie|cholesterol pneumonia SCTID:233728004|MESH:C535937|UMLS:C0549472|ICD9:516.8|GARD:0008500|OMIM:215030 https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia owl:Class MONDO:0006246 biolink:NamedThing high grade surface osteosarcoma A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpak2llvmy_mondo_relaxed.owl high grade surface osteosarcoma|high-grade surface osteosarcoma EFO:1000296|NCIT:C53958|ICDO:9194/3|ONCOTREE:HGSOS|UMLS:C1266165 owl:Class MONDO:0018322 biolink:NamedThing HSD10 disease, infantile type HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. tmpak2llvmy_mondo_relaxed.owl HSD10 disease, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type|MHBD deficiency, classic type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|MHBD deficiency, infantile type|HSD10 deficiency, classic type|2-methyl-3-hydroxybutyric aciduria, classic type|2-methyl-3-hydroxybutyric aciduria, infantile type UMLS:CN204974|ICD10:E72.8|Orphanet:391428 owl:Class CL:0011019 biolink:NamedThing mesothelial cell of epicardium A mesothelial cell that is part of the epicardium. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017189 biolink:NamedThing adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide tmpak2llvmy_mondo_relaxed.owl NI-PHH Orphanet:276608|SCTID:717044000|ICD10:E16.1|UMLS:C4274082 owl:Class MONDO:0022435 biolink:NamedThing Mauriac syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. tmpak2llvmy_mondo_relaxed.owl Mauriac's syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome|Mauriac syndrome NCIT:C130997|GTR:AN0543843|UMLS:C0221005|ICD9:258.1|GTR:AN0543890|SCTID:80660001 owl:Class MONDO:0010677 biolink:NamedThing muscular dystrophy, Mabry type tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, Mabry type OMIM:310000|UMLS:C1839670|MESH:C564096 owl:Class MONDO:0026720 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 12 tmpak2llvmy_mondo_relaxed.owl MC1DN12|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 OMIM:301020 owl:Class MONDO:0015732 biolink:NamedThing intermediate anorectal malformation Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. tmpak2llvmy_mondo_relaxed.owl SCTID:734024009|Orphanet:171208|ICD10:Q42.0|ICD10:Q42.1 owl:Class HGNC:33867 biolink:NamedThing SDHAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018663 biolink:NamedThing regressive spondylometaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl regressive spondylometaphyseal dysplasia ICD10:Q77.8|Orphanet:448267|UMLS:CN248525|OMIM:618019 owl:Class MONDO:0004460 biolink:NamedThing thyroid gland fetal adenoma A thyroid gland adenoma composed of microfollicular structures. tmpak2llvmy_mondo_relaxed.owl thyroid fetal adenoma|thyroid gland microfollicular adenoma|microfollicular adenoma (morphologic abnormality)|microfollicular adenoma DOID:8102|NCIT:C4160|ICDO:8333/0|UMLS:C0334328 owl:Class MONDO:0010655 biolink:NamedThing X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. tmpak2llvmy_mondo_relaxed.owl Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|Lujan-Fryns syndrome|Lujan syndrome|mental retardation, X-linked, with Marfanoid habitus|LUJAN-Fryns syndrome|intellectual disability, X-linked, with Marfanoid habitus Orphanet:776|GARD:0003307|SCTID:422437002|OMIM:309520|MESH:C537724|ICD10:Q87.8 owl:Class NCBITaxon:39700 biolink:NamedThing Trypanozoon tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009681 biolink:NamedThing Ullrich congenital muscular dystrophy 1 tmpak2llvmy_mondo_relaxed.owl Ullrich congenital muscular dystrophy type 1|Ullrich disease|muscular dystrophy, Scleroatonic|UCMD1|Ullrich Scleroatonic muscular dystrophy|Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 1 OMIM:254090|UMLS:CN033863 owl:Class MONDO:0030925 biolink:NamedThing oocyte maturation defect 10 tmpak2llvmy_mondo_relaxed.owl oocyte maturation defect 10|OOMD10 OMIM:619176 owl:Class MONDO:0017299 biolink:NamedThing acute annular outer retinopathy tmpak2llvmy_mondo_relaxed.owl AAOR Orphanet:284460 owl:Class HGNC:14201 biolink:NamedThing JPH1 tmpak2llvmy_mondo_relaxed.owl owl:Class IAO:0000007 biolink:NamedThing action specification A directive information entity that describes an action the bearer will take.|a directive information entity that describes an action the bearer will take tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012330 biolink:NamedThing talo-patello-scaphoid osteolysis Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl singh-Williams-McAlister syndrome|talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals UMLS:C1864784|GARD:0010061|MESH:C536894|Orphanet:50809|OMIM:609655 owl:Class MONDO:0012018 biolink:NamedThing myopathy, myosin storage, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MSMA|myopathy, myosin storage, autosomal dominant|myopathy, hyaline body, autosomal dominant|myopathy with lysis of type 1 myofibrils SCTID:699267007|ICD9:359.89|UMLS:C1842160|MESH:C564253|OMIM:608358 owl:Class MONDO:0020181 biolink:NamedThing mesenchymatous palpebral tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:98591|UMLS:CN207041 owl:Class HP:0002244 biolink:NamedThing Abnormality of the small intestine An abnormality of the small intestine. tmpak2llvmy_mondo_relaxed.owl UMLS:C4025717 human_phenotype owl:Class MONDO:0026404 biolink:NamedThing X inactivation, familial skewed, 1 tmpak2llvmy_mondo_relaxed.owl X-inactivation, familial skewed, 1|X INACTIVATION, FAMILIAL SKEWED, 1|X inactivation, familial skewed, 1|SXI1 OMIM:300087 owl:Class HP:0002063 biolink:NamedThing Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. tmpak2llvmy_mondo_relaxed.owl Rigidity|Muscle rigidity UMLS:C0026837|SNOMEDCT_US:16046003|MSH:D009127 Rigidity is often a manifestation of basal ganglia diseases. human_phenotype owl:Class MONDO:0019650 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with minimal change tmpak2llvmy_mondo_relaxed.owl steroid-sensitive MCNS ICD10:N04.0|UMLS:CN206522|Orphanet:93207 owl:Class MONDO:0003216 biolink:NamedThing ureter adenocarcinoma A carcinoma that arises from glandular epithelial cells of the ureter tmpak2llvmy_mondo_relaxed.owl adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter|ureter adenocarcinoma UMLS:C1336873|NCIT:C6155|DOID:4938 owl:Class MONDO:0033667 biolink:NamedThing Delpire-McNeill syndrome tmpak2llvmy_mondo_relaxed.owl DELMNES OMIM:619083 owl:Class HGNC:14867 biolink:NamedThing APOL4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003858 biolink:NamedThing anterior optic tract meningioma A meningioma that affects the anterior visual pathway. tmpak2llvmy_mondo_relaxed.owl anterior visual pathway meningioma NCIT:C7538|UMLS:C1332308|DOID:6334 owl:Class MONDO:0019120 biolink:NamedThing pili bifurcati Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. tmpak2llvmy_mondo_relaxed.owl Orphanet:720|ICD10:L67.8|SCTID:717360009 owl:Class HGNC:10998 biolink:NamedThing SLC27A4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030907 biolink:NamedThing intellectual disability, X-linked 106 tmpak2llvmy_mondo_relaxed.owl MRX106|X-linked mental retardation 106|intellectual disability, X-linked 106|mental retardation, X-linked 106|X-linked intellectual disability 106 DOID:0080240|OMIM:300997 owl:Class MONDO:0000482 biolink:NamedThing focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. tmpak2llvmy_mondo_relaxed.owl organic writer's cramp|writer's cramp|hand and arm dystonia UMLS:C0154676|DOID:0050841|SCTID:52008007|ICD9:333.84 owl:Class MONDO:0018717 biolink:NamedThing mixed cystic lymphatic malformation tmpak2llvmy_mondo_relaxed.owl mixed cystic lymphangioma Orphanet:458792|ICD10:D18.1 owl:Class MONDO:0007578 biolink:NamedThing esterase B tmpak2llvmy_mondo_relaxed.owl ESB|esterase B|esterase type B OMIM:133260 Editor note: consider obsoleting owl:Class MONDO:0013424 biolink:NamedThing 3p- syndrome Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. tmpak2llvmy_mondo_relaxed.owl 3p monosomy|deletion 3p25|3p deletion|3p- syndrome|chromosome 3pter-p25 deletion syndrome|partial monosomy 3p|chromosome 3, monosomy 3p25|deletion 3p|monosomy 3pter|del(3p25)|chromosome 3p deletion|monosomy 3p|distal monosomy type 3p|Del(3p) syndrome|chromosome 3p- syndrome|distal monosomy 3p|telomeric monosomy 3p|distal 3p deletion Orphanet:1620|GARD:0000037|ICD10:Q93.5|NCIT:C41377|GARD:0003750|SCTID:763528002|DOID:0060417|OMIM:613792|MESH:C536804 owl:Class MONDO:0022822 biolink:NamedThing congenital cardiovascular shunt tmpak2llvmy_mondo_relaxed.owl GARD:0006154 https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt owl:Class MONDO:0017850 biolink:NamedThing sirenomelia Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. tmpak2llvmy_mondo_relaxed.owl mermaid syndrome|Fused legs and feet|mermaid malformation|symmelia|Sirenomelus|sirenomelia sequence SCTID:67254002|NCIT:C118455|UMLS:C0037205|GARD:0007652|Orphanet:3169|ICD10:Q87.2|MedDRA:10049216 owl:Class MONDO:0008573 biolink:NamedThing tibial torsion, bilateral medial tmpak2llvmy_mondo_relaxed.owl tibial torsion, bilateral medial UMLS:C1861097|OMIM:188800|MESH:C566045 owl:Class MONDO:0036483 biolink:NamedThing short-rib thoracic dysplasia 18 with polydactyly tmpak2llvmy_mondo_relaxed.owl SRTD18|short-rib thoracic dysplasia 18 with polydactyly UMLS:CN795020|DOID:0080293|OMIM:617866 owl:Class MONDO:0020637 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a partial deficiency tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002003 biolink:NamedThing CD34-positive, GlyA-negative erythroid progenitor cell An erythroid progenitor cell that is CD34-positive and is GlyA-negative. tmpak2llvmy_mondo_relaxed.owl FMA:83517 Cell markers associated with human cells. tmeehan 2010-04-26T10:14:30Z cell owl:Class MONDO:0030920 biolink:NamedThing intellectual disability, autosomal dominant 54 tmpak2llvmy_mondo_relaxed.owl autosomal dominant mental retardation 54|mental retardation, autosomal dominant 54|autosomal dominant intellectual disability 54|MRD54|intellectual disability, autosomal dominant 54 EFO:0009164|DOID:0080230|OMIM:617799 owl:Class UBERON:0018251 biolink:NamedThing meningeal vein One of the veins draining a meninix. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:56251 biolink:NamedThing Plagiorchioidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001276 biolink:NamedThing expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpak2llvmy_mondo_relaxed.owl developmental expressive language disorder|expressive language disorder SCTID:229733002|NCIT:C92562|DOID:11385|ICD9:315.31|ICD10:F80.1 owl:Class MONDO:0009951 biolink:NamedThing radiculoneuropathy, fatal neonatal tmpak2llvmy_mondo_relaxed.owl Radiculoneuropathy, fatal neonatal MESH:C564857|OMIM:266250|UMLS:C1849471 owl:Class HGNC:9987 biolink:NamedThing RFXANK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008357 biolink:NamedThing radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. tmpak2llvmy_mondo_relaxed.owl radial hypoplasia, triphalangeal thumbs and hypospadias|Schmitt-Gillenwater-Kelly syndrome|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema Orphanet:2252|ICD10:Q87.2|SCTID:716092007|MESH:C536262|GARD:0004626|OMIM:179250 owl:Class MONDO:0019307 biolink:NamedThing generalized junctional epidermolysis bullosa non-Herlitz type Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. tmpak2llvmy_mondo_relaxed.owl generalized atrophic benign epidermolysis bullosa|GABEB|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa, Disentis type|junctional epidermolysis bullosa generalisata mitis|JEB, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|generalized junctional epidermolysis bullosa, non-Herlitz type|JEB-nH gen SCTID:724225008|DOID:0060738|GARD:0012922|ICD10:Q81.8|Orphanet:79402 owl:Class MONDO:0011042 biolink:NamedThing Martinez-Frias syndrome tmpak2llvmy_mondo_relaxed.owl pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martinez-Frias syndrome|Martínez-Frías syndrome UMLS:CN199270|OMIM:601346|Orphanet:137862|UMLS:C1832443 owl:Class MONDO:0012655 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl myoclonic epilepsy, juvenile, susceptibility to, 4|EJM4 DOID:0111327|OMIM:611364|UMLS:C1969656 owl:Class MONDO:0007121 biolink:NamedThing aniridia, microcornea, and spontaneously Reabsorbed cataract tmpak2llvmy_mondo_relaxed.owl aniridia, microcornea, and spontaneously Reabsorbed cataract MESH:C566280|UMLS:C1862867|OMIM:106230 owl:Class MONDO:0012766 biolink:NamedThing hereditary spastic paraplegia 37 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. tmpak2llvmy_mondo_relaxed.owl spastic paraplegia 37, autosomal dominant|SPG37|hereditary spastic paraplegia type 37|autosomal dominant spastic paraplegia type 37|autosomal dominant spastic paraplegia 37 DOID:0110788|UMLS:C2936880|MESH:C567931|SCTID:763369007|ICD10:G11.4|Orphanet:171612|OMIM:611945 owl:Class HGNC:29683 biolink:NamedThing SLC25A32 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006586 biolink:NamedThing neurotic excoriation A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin. tmpak2llvmy_mondo_relaxed.owl dermatitis artefacta|dermatitis ficta|dermatitis factitia|dermatitis factitia [artefacta]|factitious skin disease DOID:9165|UMLS:C1274184|EFO:1000741|Wikipedia:Neurotic_excoriations|SCTID:402736003|ICD9:300.19|ICD9:698.4|ICD10:L98.1 owl:Class MONDO:0016438 biolink:NamedThing linear focal dermal elastosis Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. tmpak2llvmy_mondo_relaxed.owl Elastotic striae|linear focal elastosis Orphanet:228236 owl:Class MONDO:0004558 biolink:NamedThing thyroid gland macrofollicular adenoma A thyroid gland adenoma composed of large size follicles. tmpak2llvmy_mondo_relaxed.owl macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality)|colloid adenoma ICDO:8334/0|NCIT:C4161|UMLS:C0334329|DOID:8419 owl:Class MONDO:0020434 biolink:NamedThing atrial septal defect, ostium secundum type tmpak2llvmy_mondo_relaxed.owl ostium secundum ASD|ostium secundum atrial septal defect|osASD|ASD ostium secundum type|ASD, ostium secundum type MedDRA:10031302|Orphanet:99103|MedDRA:10031303|ICD10:Q21.1|GARD:0005865 owl:Class MONDO:0007474 biolink:NamedThing duodenal ulcer due to antral G-cell hyperfunction tmpak2llvmy_mondo_relaxed.owl hypergastrinemic, hyperpepsinogenemic duodenal ulcer|duodenal ulcer due to antral G-cell hyperfunction MESH:C535721|OMIM:126840|GARD:0009743|UMLS:C1852009 https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction owl:Class MONDO:0009281 biolink:NamedThing glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. tmpak2llvmy_mondo_relaxed.owl GCDHD|glutaric acidemia, type 1|Ga 1|glutaric acidemia 1|glutaric acidemia type 1|GA1|glutaric aciduria 1|glutaric acidemia type I|glutaryl-CoA dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia I|glutaric aciduria type I|glutaryl-coenzyme A dehydrogenase deficiency|glutaric aciduria, type 1 OMIM:231670|MESH:C536833|ICD10:E72.3|DOID:0111254|SCTID:76175005|GARD:0006522|UMLS:C0268595|NCIT:C99101|Orphanet:25 owl:Class MONDO:0012202 biolink:NamedThing malaria, mild, susceptibility to tmpak2llvmy_mondo_relaxed.owl Mals|susceptibility to mild malaria|malaria, mild, susceptibility to OMIM:609148 owl:Class MONDO:0017328 biolink:NamedThing non-central nervous system-localized embryonal carcinoma tmpak2llvmy_mondo_relaxed.owl non-CNS-localized embryonal carcinoma Orphanet:289362|UMLS:CN202968|ICD10:C22.7 owl:Class MONDO:0012063 biolink:NamedThing ulnar/fibula ray defect-brachydactyly syndrome Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. tmpak2llvmy_mondo_relaxed.owl Morava-Mehes syndrome|ulnar/fibular RAY defect and brachydactyly SCTID:719843001|Orphanet:52056|ICD10:Q73.8|OMIM:608571|MESH:C563905 owl:Class GO:1990904 biolink:NamedThing ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules. tmpak2llvmy_mondo_relaxed.owl intracellular ribonucleoprotein complex|extracellular ribonucleoprotein complex|RNP|protein-RNA complex|RNA-protein complex|ribonucleoprotein complex owl:Class MONDO:0011484 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 1 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. tmpak2llvmy_mondo_relaxed.owl CPVT1|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|ventricular tachycardia, stress-induced polymorphic|catecholaminergic polymorphic ventricular tachycardia 1|catecholaminergic polymorphic ventricular tachycardia type 1|CVPT1 NCIT:C123414|ICD10:I47.2|UMLS:C4053736|OMIM:604772|DOID:0060675 owl:Class GO:0019842 biolink:NamedThing vitamin binding Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004112 biolink:NamedThing radiation cystitis Inflammation of the bladder due to irradiation. tmpak2llvmy_mondo_relaxed.owl irradiation cystitis NCIT:C123174|UMLS:C0156270|DOID:7127|ICD10:N30.4|ICD9:595.82|SCTID:11251000 owl:Class MONDO:0032937 biolink:NamedThing myopathy, congenital proximal, with minicore lesions tmpak2llvmy_mondo_relaxed.owl MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS|MYOPMIL OMIM:618823 owl:Class HGNC:4175 biolink:NamedThing GATM tmpak2llvmy_mondo_relaxed.owl owl:Class SO:0001272 biolink:NamedThing tRNA_gene A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA. tmpak2llvmy_mondo_relaxed.owl tRNA gene owl:Class MONDO:0010061 biolink:NamedThing autosomal recessive cerebellar ataxia-blindness-deafness syndrome tmpak2llvmy_mondo_relaxed.owl SCABD|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|spinocerebellar ataxia, autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|autosomal recessive spinocerebellar ataxia type 3|autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|SCAR3|spinocerebellar ataxia with blindness and deafness|spinocerebellar ataxia autosomal recessive 3 DOID:0111612|OMIM:271250|ICD10:G11.1|GARD:0009971|UMLS:C1849094|MESH:C537309|Orphanet:95433 owl:Class MONDO:0010678 biolink:NamedThing muscular dystrophy, progressive Pectorodorsal tmpak2llvmy_mondo_relaxed.owl muscular dystrophy, progressive, involving shoulder girdle and back|muscular dystrophy, progressive Pectorodorsal OMIM:310095|UMLS:C1839669|MESH:C564095 owl:Class MONDO:0006578 biolink:NamedThing mediastinal lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. tmpak2llvmy_mondo_relaxed.owl mediastinal lipomatosis DOID:3926|UMLS:C1334662|NCIT:C27488|EFO:1000732 owl:Class MONDO:0002587 biolink:NamedThing encapsulated thymoma A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. tmpak2llvmy_mondo_relaxed.owl encapsulated thymoma NCIT:C7386|UMLS:C1333383|DOID:3278 owl:Class MONDO:0013698 biolink:NamedThing arthrogryposis, distal, type 1B tmpak2llvmy_mondo_relaxed.owl arthrogryposis, distal, type 1B|DA1B OMIM:614335|UMLS:C3280526|DOID:0111598 owl:Class HGNC:4944 biolink:NamedThing HLA-DQB1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:35278 biolink:NamedThing unclassified ssRNA positive-strand viruses tmpak2llvmy_mondo_relaxed.owl ssRNA positive-strand viruses|unclassified ssRNA positive-strand viruses, no DNA stage|ssRNA positive-strand viruses, no DNA stage GC_ID:1 NCBITaxon:38173 ncbi_taxonomy owl:Class MONDO:0020363 biolink:NamedThing honey-droplet corneal dystrophy tmpak2llvmy_mondo_relaxed.owl ICD10:H18.5|UMLS:CN207218|Orphanet:98958 owl:Class MONDO:0003076 biolink:NamedThing unilateral retinoblastoma A retinoblastoma that only involves a single eye. tmpak2llvmy_mondo_relaxed.owl NCIT:C8714|UMLS:C0854915|DOID:4651 owl:Class MONDO:0007322 biolink:NamedThing chondrodysplasia punctata, tibial-metacarpal type tmpak2llvmy_mondo_relaxed.owl chondrodysplasia punctata, tibia-metacarpal type|chondrodysplasia punctata, Mt type SCTID:254083002|Orphanet:79346|ICD9:756.59|OMIM:118651|MESH:C562961|ICD10:Q77.3 owl:Class MONDO:0015558 biolink:NamedThing isolated bone marrow mastocytosis tmpak2llvmy_mondo_relaxed.owl Orphanet:158778|ICD10:C96.2 owl:Class MONDO:0022414 biolink:NamedThing allain-babin-demarquez syndrome tmpak2llvmy_mondo_relaxed.owl craniosynostosis synostoses hypertensive nephropathy|acro cephalo synostosis Orphanet:1526|GARD:0000124 https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome owl:Class UBERON:0015154 biolink:NamedThing lateral gland of orbital region A gland that is located in or around the ocular region, nearer the outer canthi. tmpak2llvmy_mondo_relaxed.owl lateral ocular gland|lateral orbital gland owl:Class MONDO:0002072 biolink:NamedThing melanotic neuroectodermal tumor A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course. tmpak2llvmy_mondo_relaxed.owl melanotic neuroectodermal tumor of infancy (morphologic abnormality)|melanotic Progonoma|retinal anlage neoplasm|pigmented neuroectodermal tumor|melanotic neuroectodermal tumor of infancy|pigmented neuroectodermal tumour of infancy|MNTI|infantile melanotic neuroectodermal neoplasm|melanotic neuroectodermal tumor (morphologic abnormality) DOID:166|MESH:D017600|EFO:1001038|SCTID:404042005|UMLS:C0206094|ICDO:9363/0|NCIT:C3717 owl:Class MONDO:0018137 biolink:NamedThing temperature-sensitive oculocutaneous albinism type 1 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). tmpak2llvmy_mondo_relaxed.owl OCA1-TS|TS OCA type 1 ICD10:E70.3|Orphanet:352737|UMLS:C1847132 owl:Class MONDO:0026727 biolink:NamedThing Shukla-Vernon syndrome tmpak2llvmy_mondo_relaxed.owl SHUKLA-VERNON SYNDROME|SHUVER OMIM:301029 owl:Class MONDO:0020361 biolink:NamedThing partial cryptophthalmia tmpak2llvmy_mondo_relaxed.owl ICD10:Q11.2|Orphanet:98950|DOID:0111718 owl:Class HP:0011772 biolink:NamedThing Abnormal thyroid morphology A structural abnormality of the thyroid gland. tmpak2llvmy_mondo_relaxed.owl Abnormality of thyroid morphology|Abnormal shape of thyroid gland UMLS:C4023195 peter 2012-04-22T05:54:57Z human_phenotype owl:Class MONDO:0007545 biolink:NamedThing Eosinophilopenia tmpak2llvmy_mondo_relaxed.owl eosinophil aplasia|Eosinophilopenia OMIM:131430|UMLS:C1851586 owl:Class MONDO:0012750 biolink:NamedThing lethal arthrogryposis-anterior horn cell disease syndrome tmpak2llvmy_mondo_relaxed.owl lethal arthrogryposis with anterior horn cell disease|LAAHD|Vuopala disease OMIM:611890|SCTID:715565004|Orphanet:53696|UMLS:C2678471|MESH:C567502 owl:Class MONDO:0024377 biolink:NamedThing circadian rhythm sleep disorder, delayed sleep phase type A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. tmpak2llvmy_mondo_relaxed.owl sleepwake schedule disorder, delayed phase|sleep-wake schedule disorder, delayed phase|DSPD|DSPS|delayed sleep phase syndrome|sleep wake schedule disorder, delayed phase type SCTID:28011000119104|UMLS:C0393770|ICD10:G47.21|DOID:0111141 owl:Class MONDO:0015568 biolink:NamedThing isolated congenital nasal pyriform aperture stenosis tmpak2llvmy_mondo_relaxed.owl isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia Orphanet:162516|ICD10:Q30.8 owl:Class MONDO:0044629 biolink:NamedThing congenital amyoplasia tmpak2llvmy_mondo_relaxed.owl amyoplasia congenita Orphanet:488586 owl:Class MONDO:0016604 biolink:NamedThing dysraphism-cleft lip/palate-limb reduction defects syndrome tmpak2llvmy_mondo_relaxed.owl dysraphism, cleft lip/palate, limb reduction defects|Medeira-Dennis-Donnai syndrome UMLS:CN201798|GARD:0003438|ICD10:Q00.0|Orphanet:2476 owl:Class MONDO:0021927 biolink:NamedThing arthrogryposis epileptic seizures migrational brain disorder tmpak2llvmy_mondo_relaxed.owl arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder GARD:0000781|UMLS:C2931495|MESH:C537442 https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder owl:Class HGNC:14361 biolink:NamedThing IRX5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013119 biolink:NamedThing autosomal recessive nonsyndromic deafness 77 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 77|DFNB77|autosomal recessive nonsyndromic deafness 77|LOXHD1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 77|autosomal recessive nonsyndromic deafness type 77|deafness, autosomal recessive 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1 ICD10:H90.3|DOID:0110525|MESH:C567543|OMIM:613079|UMLS:C2746083 owl:Class MONDO:0009762 biolink:NamedThing nystagmus, congenital, autosomal recessive tmpak2llvmy_mondo_relaxed.owl nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive GARD:0009609|UMLS:C3151571|OMIM:257400|MESH:C564938 owl:Class MONDO:0024348 biolink:NamedThing pityriasis capitis tmpak2llvmy_mondo_relaxed.owl pityriasis capitis 2022-02-01 SCTID:400201008 Reason: out of scope. owl:Class HGNC:20800 biolink:NamedThing SLC35D1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015772 biolink:NamedThing trisomy 8q Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. tmpak2llvmy_mondo_relaxed.owl partial trisomy 8q|8q duplication|8q trisomy|trisomy type 8q|chromosome 8q duplication|Duplication 8q UMLS:C0795829|MESH:C538020|ICD10:Q92.2|Orphanet:1752|GARD:0005362|NCIT:C36428 owl:Class MONDO:0017110 biolink:NamedThing isolated Dandy-Walker malformation with hydrocephalus tmpak2llvmy_mondo_relaxed.owl Orphanet:269212|ICD10:Q03.1 owl:Class MONDO:0044337 biolink:NamedThing stromal sarcoma A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma. tmpak2llvmy_mondo_relaxed.owl stromal tumor, malignant|stromal sarcoma|stromal sarcoma, malignant ICDO:8935/3|UMLS:C1370723|NCIT:C6926 owl:Class MONDO:0030895 biolink:NamedThing nephrotic syndrome, type 22 tmpak2llvmy_mondo_relaxed.owl NPHS22|nephrotic syndrome, type 22 OMIM:619155 owl:Class MONDO:0002831 biolink:NamedThing non-keratinizing sinonasal squamous cell carcinoma A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. tmpak2llvmy_mondo_relaxed.owl Sinonasal Schneiderian carcinoma|cylindrical cell carcinoma|Ringertz carcinoma|sinonasal squamous cell carcinoma|Schneiderian carcinoma|Sinonasal transitional cell carcinoma|Sinonasal cylindrical cell carcinoma|non-keratinizing sinonasal squamous cell carcinoma UMLS:C0334270|DOID:4003|ONCOTREE:SNSC|NCIT:C54287|ICDO:8121/3 Editor note: TODO check ONCOTREE mapping owl:Class MONDO:0020814 biolink:NamedThing miliaria alba tmpak2llvmy_mondo_relaxed.owl SCTID:201191004 owl:Class GO:0006860 biolink:NamedThing extracellular amino acid transport The directed extracellular movement of amino acids. tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:742845 biolink:NamedThing Malasseziaceae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008844 biolink:NamedThing Athrombia, essential tmpak2llvmy_mondo_relaxed.owl Athrombia, essential OMIM:209050|UMLS:C1859595|MESH:C565927 owl:Class MONDO:0017081 biolink:NamedThing parietal encephalocele tmpak2llvmy_mondo_relaxed.owl ICD10:Q01.8|SCTID:253109005|Orphanet:268826 owl:Class MONDO:0019574 biolink:NamedThing secondary intestinal lymphangiectasia Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. tmpak2llvmy_mondo_relaxed.owl UMLS:C4273969|SCTID:717255008|Orphanet:90363|ICD10:I89.0 owl:Class MONDO:0007750 biolink:NamedThing hypercholesterolemia, familial, 1 tmpak2llvmy_mondo_relaxed.owl LDL receptor disorder|hyper-low-density-lipoproteinemia|low density lipoprotein cholesterol level quantitative trait locus 2|FHC|hyperlipoproteinemia, type 2A|hyperlipoproteinemia, type 2|hypercholesterolemia, familial|FHCL1|hypercholesterolemic xanthomatosis, familial|hypercholesterolemia, familial, 1 OMIM:143890|SCTID:398036000 owl:Class MONDO:0032588 biolink:NamedThing periventricular nodular heterotopia 8 tmpak2llvmy_mondo_relaxed.owl PERIVENTRICULAR NODULAR HETEROTOPIA 8|PVNH8 OMIM:618185 owl:Class MONDO:0001395 biolink:NamedThing macular keratitis tmpak2llvmy_mondo_relaxed.owl DOID:11871|ICD9:370.22|SCTID:2853006|ICD10:H16.11|UMLS:C0155076 owl:Class MONDO:0033375 biolink:NamedThing orofaciodigital syndrome 17 tmpak2llvmy_mondo_relaxed.owl Ofds 17|OFD17|orofaciodigital syndrome XVII|oral-Facial-digital syndrome, type 17 OMIM:617926|UMLS:CN902091|DOID:0080289 owl:Class MONDO:0004236 biolink:NamedThing duodenal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. tmpak2llvmy_mondo_relaxed.owl duodenal somatostatin producing tumor|duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatinoma|duodenal somatostatin-producing NET|duodenal delta cell somatostatin producing tumor DOID:7479|NCIT:C27407|UMLS:C1333320 owl:Class MONDO:0000948 biolink:NamedThing xerophthalmia Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. tmpak2llvmy_mondo_relaxed.owl conjunctival xerosis ICD9:375.15|ICD10:H04.12|DOID:10138|SCTID:363677007|NCIT:C34503|UMLS:C0043349|UMLS:C3665609|ICD10:E50.7|MESH:D014985 owl:Class MONDO:0009027 biolink:NamedThing cramps, familial adolescent tmpak2llvmy_mondo_relaxed.owl cramps, familial adolescent OMIM:218050 owl:Class HGNC:6414 biolink:NamedThing KRT12 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013903 biolink:NamedThing nystagmus 7, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl NYSTAGMUS 7, congenital, autosomal dominant|NYS7 UMLS:C3553801|OMIM:614826 owl:Class MONDO:0007857 biolink:NamedThing keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. tmpak2llvmy_mondo_relaxed.owl keratosis palmaris ET plantaris with clinodactyly|palmoplantar keratoderma-clinodactyly syndrome Orphanet:86919|MESH:C563646|UMLS:C1835663|ICD10:Q82.8|OMIM:148520 owl:Class MONDO:0012627 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 13 Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. tmpak2llvmy_mondo_relaxed.owl juvenile myoclonic epilepsy caused by mutation in GABRA1|GABRA1 juvenile myoclonic epilepsy|epilepsy, idiopathic generalized, susceptibility to, 13|epilepsy, juvenile myoclonic, susceptibility to, 5|epilepsy, idiopathic generalized, susceptibility to, type 13|epilepsy, childhood absence, susceptibility to, 4|EIG13|susceptibility to idiopathic generalized epilepsy 13 DOID:0111314|MESH:C567002|OMIM:611136 Editor note: check classification under EIG owl:Class HP:0001878 biolink:NamedThing Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). tmpak2llvmy_mondo_relaxed.owl Haemolytic anaemia|Increased hemolysis|Hemolytic anaemia UMLS:C0002878|MSH:D000743|SNOMEDCT_US:61261009 Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. HP:0004868|HP:0005503|HP:0001910|HP:0004853|HP:0004827 human_phenotype owl:Class MONDO:0000997 biolink:NamedThing monocular esotropia A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. tmpak2llvmy_mondo_relaxed.owl ICD10:H50.01|SCTID:5455000|UMLS:C0152204|DOID:10293|ICD9:378.01 owl:Class MONDO:0009558 biolink:NamedThing Treacher Collins syndrome 3 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. tmpak2llvmy_mondo_relaxed.owl Treacher-Collins syndrome caused by mutation in POLR1C|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|Treacher Collins syndrome type 3|TCS3|POLR1C Treacher-Collins syndrome|Treacher Collins syndrome 3|TREACHER COLLINS syndrome 3 MESH:C535707|OMIM:248390|GARD:0009125 https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 owl:Class MONDO:0032940 biolink:NamedThing retinitis pigmentosa 88 tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 88|RP88 OMIM:618826 owl:Class MONDO:0018587 biolink:NamedThing non-recovering obstetric brachial plexus lesion tmpak2llvmy_mondo_relaxed.owl non-recovering OBPL|chronic obstetric brachial plexus palsy|non-recovering OBPI|chronic obstetric brachial plexus injury ICD10:P14.3|UMLS:CN237616|Orphanet:439202 owl:Class MONDO:0032607 biolink:NamedThing vertebral anomalies and variable endocrine and T-cell dysfunction tmpak2llvmy_mondo_relaxed.owl VETD|VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION DOID:0070345|OMIM:618223 owl:Class MONDO:0019823 biolink:NamedThing premature closure of the arterial duct Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. tmpak2llvmy_mondo_relaxed.owl premature closure of the patent ductus arteriosus Orphanet:95486|ICD10:Q25.8 owl:Class GO:0071103 biolink:NamedThing DNA conformation change A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. tmpak2llvmy_mondo_relaxed.owl DNA conformation modification owl:Class MONDO:0018103 biolink:NamedThing Quinquaud's folliculitis decalvans Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. tmpak2llvmy_mondo_relaxed.owl Quinquaud's disease|Quinquaud’s disease|folliculitis decalvans|Quinquaud's decalvans folliculitis UMLS:CN227263|GARD:0000373|SCTID:53593008|ICD10:L66.2|ICD9:704.09|Orphanet:346 https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis owl:Class MONDO:0011247 biolink:NamedThing jejunal atresia with renal adysplasia tmpak2llvmy_mondo_relaxed.owl jejunal atresia with renal adysplasia UMLS:C1865209|MESH:C537567|GARD:0009985|OMIM:602551 https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia owl:Class MONDO:0030338 biolink:NamedThing anencephaly 2 tmpak2llvmy_mondo_relaxed.owl anencephaly 2|ANPH2 OMIM:619452 owl:Class MONDO:0012779 biolink:NamedThing celiac disease, susceptibility to, 10 tmpak2llvmy_mondo_relaxed.owl celiac disease, susceptibility to, 10|gluten-sensitive enteropathy, susceptibility to, 10|CELIAC10 OMIM:612008 owl:Class MONDO:0100067 biolink:NamedThing childhood spindle cell rhabdomyosarcoma A spindle cell rhabdomyosarcoma occurring in children. tmpak2llvmy_mondo_relaxed.owl NCIT:C123397 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009657 biolink:NamedThing Sanfilippo syndrome type C A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpak2llvmy_mondo_relaxed.owl HGSNAT deficiency|MPSIIIC|MPS 3C|Sanfilippo syndrome type C|mucopolysaccharidosis type IIIC|MPS IIIC|MPS III C|Sanfilippo C|MPS3C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|mucopolysaccharidosis type 3C|mucopolysaccharidosis, type 3C|Sanfilippo syndrome C|mucopolysaccharidosis, type IIIC|Mucopoly-saccharidosis type 3C|heparan-alpha-glucosaminide N-acetyltransferase deficiency Orphanet:79271|UMLS:C0086649|SCTID:75238000|GARD:0007073|OMIM:252930|ICD10:E76.2|DOID:0111393|NCIT:C84899 owl:Class MONDO:0000138 biolink:NamedThing metaphyseal chondrodysplasia tmpak2llvmy_mondo_relaxed.owl metaphyseal chondrodysplasia (disease)|metaphyseal chondrodysplasia metaphyseal chondrodysplasia (disease) SCTID:28681006|HP:0005871 owl:Class MONDO:0044313 biolink:NamedThing intellectual disability, autosomal recessive 60 tmpak2llvmy_mondo_relaxed.owl MRT60|intellectual disability, autosomal recessive 60|mental retardation, autosomal recessive 60 OMIM:617432 owl:Class MONDO:0001367 biolink:NamedThing chronic congestive splenomegaly Chronic form of congestive splenomegaly. tmpak2llvmy_mondo_relaxed.owl congestive splenomegaly, chronic ICD10:D73.2|ICD9:289.51|DOID:11787|UMLS:C0398661|SCTID:191382009 owl:Class MONDO:0021571 biolink:NamedThing multiple sclerosis, susceptibility to 1 tmpak2llvmy_mondo_relaxed.owl multiple sclerosis, susceptibility to|MS|disseminated sclerosis|MS1|susceptibility to multiple sclerosis|multiple sclerosis, susceptibility to, 1 OMIM:126200|UMLS:CN031763 owl:Class MONDO:0014401 biolink:NamedThing tall stature-scoliosis-macrodactyly of the great toes syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. tmpak2llvmy_mondo_relaxed.owl epiphyseal chondrodysplasia, MIURA type|ECDM|Miura type epiphyseal chondrodysplasia|tall stature-scoliosis-macrodactyly of the halluces syndrome DOID:0070316|OMIM:615923|Orphanet:329191|UMLS:C4014690 owl:Class MONDO:0019435 biolink:NamedThing rheumatoid factor-positive polyarticular juvenile idiopathic arthritis A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. tmpak2llvmy_mondo_relaxed.owl rheumatoid factor-positive polyarticular JIA|polyarticular JIA, RF+|polyarthritis with rheumatoid factor|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarticular juvenile idiopathic arthritis, RF+|juvenile idiopathic rheumatoid factor-positive polyarthritis NCIT:C119034|ICD10:M08.0|UMLS:C3890733|Orphanet:85435 owl:Class MONDO:0011256 biolink:NamedThing emphysema, congenital, with deafness, penoscrotal web, and intellectual disability tmpak2llvmy_mondo_relaxed.owl emphysema, congenital, with deafness, penoscrotal web, and mental retardation|emphysema, congenital, with deafness, penoscrotal web, and intellectual disability OMIM:602564|MESH:C566519|UMLS:C1865180 owl:Class HGNC:7849 biolink:NamedThing NME1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:121759 biolink:NamedThing Paracoccidioides brasiliensis tmpak2llvmy_mondo_relaxed.owl Loboa loboi GC_ID:1 NCBITaxon:71432|NCBITaxon:70254 ncbi_taxonomy owl:Class MONDO:0044309 biolink:NamedThing Diamond-Blackfan anemia 16 tmpak2llvmy_mondo_relaxed.owl Diamond-Blackfan anemia 16|DBA16 UMLS:C4479424|OMIM:617408 owl:Class MONDO:0004169 biolink:NamedThing premenstrual tension A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. tmpak2llvmy_mondo_relaxed.owl DOID:727|ICD9:625.4|MESH:D011293|ICD10:N94.3|UMLS:C0376356 owl:Class MONDO:0006857 biolink:NamedThing middle cerebral artery infarction Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. tmpak2llvmy_mondo_relaxed.owl UMLS:C0740392|MESH:D020244|EFO:1001045|DOID:3525 owl:Class MONDO:0030977 biolink:NamedThing neuropathy, hereditary motor, with myopathic features tmpak2llvmy_mondo_relaxed.owl HMNMYO OMIM:619216 owl:Class MONDO:0024566 biolink:NamedThing febrile seizures, familial, 11 tmpak2llvmy_mondo_relaxed.owl FEB11|convulsions, familial febrile, 11|febrile seizures, familial, 11 UMLS:C3280734|OMIM:614418|DOID:0111308 owl:Class GO:0043168 biolink:NamedThing anion binding Binding to an anion, a charged atom or group of atoms with a net negative charge. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010760 biolink:NamedThing XH antigen tmpak2llvmy_mondo_relaxed.owl XH antigen OMIM:314800 owl:Class MONDO:0007489 biolink:NamedThing dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known. tmpak2llvmy_mondo_relaxed.owl dysplasia epiphysealis hemimelica|Trevor disease SCTID:205480005|GARD:0002019|ICD9:756.59|UMLS:C0432282|MESH:C537997|Orphanet:1822|ICD10:Q74.8|OMIM:127800 https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica owl:Class NCBITaxon:319546 biolink:NamedThing Rickettsia conorii subsp. conorii tmpak2llvmy_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0022862 biolink:NamedThing cormier rustin munnich syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001523 https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome owl:Class MONDO:0011824 biolink:NamedThing autism, susceptibility to, 8 tmpak2llvmy_mondo_relaxed.owl AUTS8|AUTS2|AUTS2, formerly|autism, susceptibility to, 8 OMIM:607373 owl:Class GO:0002442 biolink:NamedThing serotonin secretion involved in inflammatory response The regulated release of serotonin by a cell as part of an inflammatory response. tmpak2llvmy_mondo_relaxed.owl serotonin secretion involved in acute inflammatory response|serotonin release involved in inflammatory response owl:Class MONDO:0001454 biolink:NamedThing Blessig's cysts tmpak2llvmy_mondo_relaxed.owl Microcystoid retinal degeneration|Microcystoid degeneration of retina|Blessig cysts|Iwanoff's cysts UMLS:C0154855|ICD10:H35.42|ICD9:362.62|SCTID:37075008|DOID:12164 owl:Class MONDO:0013639 biolink:NamedThing narcolepsy 6, susceptibility to tmpak2llvmy_mondo_relaxed.owl narcolepsy 6, susceptibility to|NRCLP6 OMIM:614223 owl:Class MONDO:0012603 biolink:NamedThing episodic kinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. tmpak2llvmy_mondo_relaxed.owl episodic kinesigenic dyskinesia 2|episodic kinesigenic dyskinesia type 2|dystonia 19|EKD2 DOID:0090054|ICD10:G24.8|MESH:C567026|OMIM:611031|UMLS:C1970238 owl:Class MONDO:0007193 biolink:NamedThing primary biliary cholangitis 1 tmpak2llvmy_mondo_relaxed.owl biliary cirrhosis, primary, 1|PBC1|Pbc UMLS:CN029380|OMIM:109720 owl:Class MONDO:0020365 biolink:NamedThing congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. tmpak2llvmy_mondo_relaxed.owl autosomal dominant congenital hereditary endothelial dystrophy|CHEDI|CHED1|congenital hereditary endothelial dystrophy type 1|autosomal dominant CHED SCTID:416633008|Orphanet:98975|ICD10:H18.5 owl:Class GO:0016741 biolink:NamedThing transferase activity, transferring one-carbon groups Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor). tmpak2llvmy_mondo_relaxed.owl methyltransferase activity owl:Class MONDO:0007571 biolink:NamedThing primary erythermalgia Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. tmpak2llvmy_mondo_relaxed.owl PERYTHM|erythromelalgia, primary|erythermalgia, primary|primary erythromelalgia|Mitchell disease (formerly)|neuropathy, small Fiber|erythromelalgia, familial Orphanet:90026|UMLS:C0014805|ICD10:I73.8|GARD:0006377|OMIM:133020|NCIT:C125383|SCTID:709489006 Editor note: consider link to MONDO:0016028 owl:Class MONDO:0018757 biolink:NamedThing supratip dysplasia Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. tmpak2llvmy_mondo_relaxed.owl ICD10:J34.8|Orphanet:466695 owl:Class CHEBI:131927 biolink:NamedThing dicarboxylic acids and O-substituted derivatives A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. tmpak2llvmy_mondo_relaxed.owl dicarboxylic acids and derivatives owl:Class MONDO:0016529 biolink:NamedThing duplication of urethra Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. tmpak2llvmy_mondo_relaxed.owl urethral duplication ICD10:Q64.7|Orphanet:237|SCTID:69015003|ICD9:753.8|GARD:0001975 https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra owl:Class MONDO:0016393 biolink:NamedThing hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. tmpak2llvmy_mondo_relaxed.owl Bosma arhinia-microphthalmia syndrome|Bosma-Henkin-Christiansen syndrome Orphanet:2250|UMLS:CN201299|ICD10:Q87.8 owl:Class MONDO:0003941 biolink:NamedThing classic variant of chromophobe renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl classic variant of chromophobe renal cell carcinoma NCIT:C27888|DOID:6605|UMLS:C1333062 owl:Class MONDO:0043300 biolink:NamedThing actinic cheilitis tmpak2llvmy_mondo_relaxed.owl actinic cheilitis|solar keratosis of lip|actinic cheilosis MESH:C535669|GARD:0009619|UMLS:C0267026|SCTID:46795000 owl:Class MONDO:0012262 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3c tmpak2llvmy_mondo_relaxed.owl Feom4 locus|fibrosis of extraocular muscles, congenital, 3C|CFEOM3C MESH:C567666|OMIM:609384|UMLS:C2750404 owl:Class MONDO:0011483 biolink:NamedThing polycystic bone disease tmpak2llvmy_mondo_relaxed.owl Pcbd|polycystic bone disease UMLS:C1858143|OMIM:604771|GARD:0008571|MESH:C536324 https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease owl:Class MONDO:0022898 biolink:NamedThing craniosynostosis intellectual disability heart defects tmpak2llvmy_mondo_relaxed.owl GARD:0001600 https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects owl:Class MONDO:0010746 biolink:NamedThing thumbs, congenital Clasped tmpak2llvmy_mondo_relaxed.owl Clasped thumbs, congenital|thumbs, congenital Clasped|adducted thumbs syndrome OMIM:314100|GARD:0010277|UMLS:CN074234 owl:Class MONDO:0032834 biolink:NamedThing retinitis pigmentosa 86 tmpak2llvmy_mondo_relaxed.owl RP86|RETINITIS PIGMENTOSA 86 OMIM:618613 owl:Class HGNC:9666 biolink:NamedThing PTPRC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015719 biolink:NamedThing severe hemophilia A Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpak2llvmy_mondo_relaxed.owl severe factor VIII deficiency|severe hemophilia type A Orphanet:169802|UMLS:C0272322|SCTID:16872008|ICD10:D66 owl:Class HP:0004566 biolink:NamedThing Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. tmpak2llvmy_mondo_relaxed.owl Pear-shaped vertebral bodies UMLS:C1866731 human_phenotype owl:Class MONDO:0008085 biolink:NamedThing neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance UMLS:C1834205|OMIM:162380|MESH:C563517 owl:Class MONDO:0003748 biolink:NamedThing flying phobia An overwhelming, irrational, and persistent fear of traveling in an aircraft. tmpak2llvmy_mondo_relaxed.owl NCIT:C35413|DOID:605|EFO:1001889 owl:Class MONDO:0030987 biolink:NamedThing vertebral, cardiac, tracheoesophageal, renal, and limb defects tmpak2llvmy_mondo_relaxed.owl VCTERL|VCTERL syndrome OMIM:619227 owl:Class MONDO:0000259 biolink:NamedThing asymptomatic dengue tmpak2llvmy_mondo_relaxed.owl DOID:0050143 owl:Class MONDO:0012066 biolink:NamedThing atrial fibrillation, familial, 1 tmpak2llvmy_mondo_relaxed.owl atrial fibrillation, autosomal dominant|ATFB1|atrial fibrillation, familial, 1 UMLS:C1843687|MESH:C538261|OMIM:608583 owl:Class MONDO:0010454 biolink:NamedThing intellectual disability, XMEN-linked 88 tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked 88|intellectual disability, XMEN-linked 88|MRX88|intellectual disability, X-linked 88 UMLS:C3275444|OMIM:300852 owl:Class MONDO:0054765 biolink:NamedThing amyloidosis, primary localized cutaneous, 3 tmpak2llvmy_mondo_relaxed.owl PLCA3|amyloidosis cutis dyschromica|amyloidosis, PRIMARY LOCALIZED cutaneous, 3 OMIM:617920 owl:Class GO:0070643 biolink:NamedThing vitamin D 25-hydroxylase activity Catalysis of the hydroxylation of C-25 of any form of vitamin D. tmpak2llvmy_mondo_relaxed.owl cholecalciferol 25-hydroxylase activity|ergocalciferol 25-hydroxylase activity|vitamin D2 25-hydroxylase activity|calciferol 25-hydroxylase activity owl:Class MONDO:0054837 biolink:NamedThing intellectual disability, autosomal dominant 57 tmpak2llvmy_mondo_relaxed.owl MRD57|mental retardation, autosomal dominant 57|intellectual disability, autosomal dominant 57 OMIM:618050|UMLS:CN252334 owl:Class MONDO:0017868 biolink:NamedThing diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. tmpak2llvmy_mondo_relaxed.owl Orphanet:319192|ICD10:Q04.8 owl:Class MONDO:0019449 biolink:NamedThing lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. tmpak2llvmy_mondo_relaxed.owl Orphanet:86821|SCTID:718719001|ICD10:Q04.3|UMLS:CN227635 owl:Class MONDO:0016735 biolink:NamedThing papillary glioneuronal tumor A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present. tmpak2llvmy_mondo_relaxed.owl pseudopapillary ganglioglioneurocytoma|pseudopapillary neurocytoma with glial differentiation|PGNT|papillary glioneuronal tumor (WHO grade I) ONCOTREE:PGNT|Orphanet:251962|ICDO:9509/1|NCIT:C92554|UMLS:C2985174 owl:Class MONDO:0010861 biolink:NamedThing type 1 diabetes mellitus 3 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3|IDDM3 MESH:C563960|OMIM:600318|DOID:0110742|UMLS:C1838262|ICD10:E10 owl:Class MONDO:0100281 biolink:NamedThing macroglobulinemia, Waldenstrom, 1 tmpak2llvmy_mondo_relaxed.owl WM1|macroglobulinemia, Waldenstrom, somatic|macroglobulinemia, waldenstrom, susceptibility to, 1 OMIM:153600 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013530 biolink:NamedThing atrial fibrillation, familial, 10 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. tmpak2llvmy_mondo_relaxed.owl familial atrial fibrillation caused by mutation in SCN5A|atrial fibrillation, familial, type 10|atrial fibrillation, familial, 10|ATFB10|SCN5A familial atrial fibrillation OMIM:614022|UMLS:C3151464 owl:Class MONDO:0014478 biolink:NamedThing mirror movements 3 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene. tmpak2llvmy_mondo_relaxed.owl DNAL4 familial congenital mirror movements|mirror movements type 3|familial congenital mirror movements caused by mutation in DNAL4|MRMV3|mirror movements 3 OMIM:616059|UMLS:C4015124 owl:Class UBERON:0035403 biolink:NamedThing hypophysial artery An artery that supplies the pituitary gland. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017887 biolink:NamedThing renal cell carcinoma associated with neuroblastoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. tmpak2llvmy_mondo_relaxed.owl renal cell carcinoma associated with neuroblastoma|renal cell cancer associated with neuroblastoma|renal cell carcinoma after neuroblastoma ICD10:C64|UMLS:C3272295|Orphanet:319314|NCIT:C100051 owl:Class MONDO:0007831 biolink:NamedThing insect Stings, hypersensitivity to tmpak2llvmy_mondo_relaxed.owl insect Stings, hypersensitivity to OMIM:147540 owl:Class MONDO:0007299 biolink:NamedThing Sotos syndrome 1 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. tmpak2llvmy_mondo_relaxed.owl Sotos syndrome type 1|Sotos syndrome 1|cerebral gigantism|NSD1 Sotos syndrome|Sotos syndrome caused by mutation in NSD1|Sotos syndrome|SOTOS1|chromosome 5Q35 deletion syndrome UMLS:CN035106|SCTID:75968004|OMIM:117550 owl:Class MONDO:0009672 biolink:NamedThing spinal muscular atrophy, type III Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpak2llvmy_mondo_relaxed.owl type III spinal muscular atrophy|muscular atrophy, juvenile|proximal spinal muscular atrophy type 3|spinal muscular atrophy III|Sma 3|spinal muscular atrophy, mild childhood and adolescent form|Kugelberg-Welander syndrome|juvenile spinal muscular atrophy|KWS|SMA type 3|spinal muscular atrophy, type 3|pediatric spinal muscular atrophy|spinal muscular atrophy, familial|SMA 3|spinal muscular atrophy type 3|childhood spinal muscular atrophy|Kugelberg-Welander disease|SMA type III|spinal muscular atrophy, type III|spinal muscular atrophy of childhood|SMA3|SMA-III UMLS:C0152109|NCIT:C118847|SCTID:54280009|ICD10:G12.1|DOID:12376|GARD:0000198|ICD9:335.11|UMLS:C0700595|Orphanet:83419|OMIM:253400 owl:Class MONDO:0032923 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 28 tmpak2llvmy_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28|SCAR28 OMIM:618800 owl:Class MONDO:0021943 biolink:NamedThing tuberculoma A tumor-like mass resulting from the enlargement of a tuberculous lesion. tmpak2llvmy_mondo_relaxed.owl Tuberculoma|Tuberculomas MESH:D014375|UMLS:C0041295|SCTID:15202009 owl:Class MONDO:0001232 biolink:NamedThing orbital osteomyelitis tmpak2llvmy_mondo_relaxed.owl orbital osteomyelitis UMLS:C0155258|DOID:11232|ICD10:H05.02|ICD9:376.03|SCTID:65875003 owl:Class MONDO:0022620 biolink:NamedThing CD4 deficiency tmpak2llvmy_mondo_relaxed.owl GARD:0009523 https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency owl:Class HP:0000846 biolink:NamedThing Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. tmpak2llvmy_mondo_relaxed.owl Hypoadrenalism SNOMEDCT_US:111563005|SNOMEDCT_US:237785004|UMLS:C0001623|MSH:D000309|SNOMEDCT_US:386584007 Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. HP:0008218|HP:0000865 human_phenotype owl:Class MONDO:0054725 biolink:NamedThing spermatogenic failure 21 tmpak2llvmy_mondo_relaxed.owl SPGF21|spermatogenic failure 21 DOID:0070163|OMIM:617644|UMLS:C4539991 owl:Class MONDO:0018008 biolink:NamedThing idiopathic giant cell myocarditis tmpak2llvmy_mondo_relaxed.owl IGCM ICD10:I40.8|Orphanet:329874 owl:Class MONDO:0008246 biolink:NamedThing pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. tmpak2llvmy_mondo_relaxed.owl PPCRA|PPRCA|pigmented paravenous chorioretinal atrophy Orphanet:251295|UMLS:C1868310|OMIM:172870|MESH:C566801|SCTID:723450004|DOID:0111541|ICD10:H35.5 owl:Class MONDO:0025713 biolink:NamedThing angioedema, hereditary, 7 tmpak2llvmy_mondo_relaxed.owl HAE7 OMIM:619366 owl:Class MONDO:0054565 biolink:NamedThing short-rib thoracic dysplasia 17 with or without polydactyly tmpak2llvmy_mondo_relaxed.owl SRTD17|short-rib thoracic dysplasia 17 with or without POLYDACTYLY OMIM:617405 owl:Class MONDO:0017044 biolink:NamedThing adult familial nephronophthisis-spastic quadriparesia syndrome This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. tmpak2llvmy_mondo_relaxed.owl Orphanet:2666|UMLS:CN202376 owl:Class MONDO:0016807 biolink:NamedThing pure mitochondrial myopathy Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. tmpak2llvmy_mondo_relaxed.owl SCTID:732245008|UMLS:C4517289|Orphanet:254854|ICD10:G71.3 owl:Class MONDO:0020402 biolink:NamedThing congenital accessory mitral valve tissue Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.8|Orphanet:99061 owl:Class HGNC:11183 biolink:NamedThing SON tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012726 biolink:NamedThing autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. tmpak2llvmy_mondo_relaxed.owl hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|HANAC syndrome|HANAC|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome SCTID:702428000|ICD9:758.89|MESH:C567088|Orphanet:73229|ICD10:I99|OMIM:611773|UMLS:C2673195|GARD:0010889 owl:Class MONDO:0016548 biolink:NamedThing megacystis-megaureter syndrome Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. tmpak2llvmy_mondo_relaxed.owl megaureter-megacystis syndrome Orphanet:238637|SCTID:253904001|ICD10:Q62.7 owl:Class MONDO:0042915 biolink:NamedThing Schmitt-Gillenwater-Kelly syndrome tmpak2llvmy_mondo_relaxed.owl radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema|Schmitt Gillenwater Kelly syndrome GARD:0000258 owl:Class MONDO:0007707 biolink:NamedThing hemangiomas of small intestine A hemangioma that involves the small intestine. tmpak2llvmy_mondo_relaxed.owl hemangiomas of small intestine|small intestine hemangioma|hemangioma of small intestine MESH:C564201|UMLS:C1841654|OMIM:140900 owl:Class MONDO:0012752 biolink:NamedThing aneurysm, intracranial berry, 6 tmpak2llvmy_mondo_relaxed.owl aneurysm, intracranial BERRY, 6|ANIB6 OMIM:611892|MESH:C567500|UMLS:C2678469 owl:Class MONDO:0001054 biolink:NamedThing double pterygium tmpak2llvmy_mondo_relaxed.owl UMLS:C0155157|DOID:10525|ICD9:372.44|SCTID:41564009 owl:Class MONDO:0013008 biolink:NamedThing combined immunodeficiency due to STIM1 deficiency Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. tmpak2llvmy_mondo_relaxed.owl STIM1 deficiency|IMD10|immunodeficiency type 10|CID due to STIM1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 2|immunodeficiency 10 UMLS:C2748557|MESH:C557827|ICD10:D81.8|OMIM:612783|GARD:0010523|Orphanet:317430 owl:Class MONDO:0019659 biolink:NamedThing Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. tmpak2llvmy_mondo_relaxed.owl classic Pfeiffer syndrome|Pfeiffer syndrome type 1 UMLS:CN206533|ICD10:Q87.0|Orphanet:93258 owl:Class MONDO:0022685 biolink:NamedThing cerebellar agenesis tmpak2llvmy_mondo_relaxed.owl GARD:0001187 https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis owl:Class MONDO:0100219 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant tmpak2llvmy_mondo_relaxed.owl GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2 OMIM:618985 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013738 biolink:NamedThing autosomal recessive nonsyndromic deafness 96 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13. tmpak2llvmy_mondo_relaxed.owl autosomal recessive deafness 96|autosomal recessive nonsyndromic deafness type 96|DFNB96|deafness, autosomal recessive 96 ICD10:H90.3|OMIM:614414|DOID:0110538 owl:Class HP:0006517 biolink:NamedThing Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. tmpak2llvmy_mondo_relaxed.owl Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050 The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). HP:0032982 human_phenotype owl:Class MONDO:0007680 biolink:NamedThing multinodular goiter-cystic kidney-polydactyly syndrome Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. tmpak2llvmy_mondo_relaxed.owl Daneman Davy Mancer syndrome|Daneman-Davy-Mancer syndrome|goiter, multinodular, cystic renal disease, and digital anomalies|multinodular goiter/cystic renal disease/digital anomalies|multinodular goiter, cystic renal disease, and digital anomalies|thyroid-renal-digital anomalies|MNG/CRD/Da|multinodular goiter - cystic kidney - polydactyly MESH:C535986|SCTID:723409007|ICD10:Q87.8|GARD:0001671|Orphanet:2091|UMLS:C1841853|OMIM:138790 owl:Class MONDO:0033361 biolink:NamedThing developmental and epileptic encephalopathy, 52 tmpak2llvmy_mondo_relaxed.owl EIEE52|epileptic encephalopathy, early infantile, 52|DEE52 DOID:0080455|UMLS:C4479236|OMIM:617350 owl:Class MONDO:0018339 biolink:NamedThing PrP systemic amyloidosis Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. tmpak2llvmy_mondo_relaxed.owl chronic diarrhea with HSAN|chronic diarrhea with hereditary sensory and autonomic neuropathy|prion protein systemic amyloidosis ICD10:G60.8|SCTID:733422008|Orphanet:397606|UMLS:C4518776 owl:Class MONDO:0060702 biolink:NamedThing spondyloepimetaphyseal dysplasia, di rocco type tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Di Rocco type|SEMDDR UMLS:CN244923|OMIM:617974 owl:Class MONDO:0022697 biolink:NamedThing athetoid cerebral palsy A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. tmpak2llvmy_mondo_relaxed.owl ADCP|dyskinetic cerebral palsy|athetoid cerebral palsy|cerebral palsy dyskinetic|athetoid dyskinetic cerebral palsy UMLS:C0270742|ICD10:G80.3|DOID:0050672|GARD:0010449|SCTID:75019001|SCTID:230780007|NCIT:C97169 https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid owl:Class HGNC:6512 biolink:NamedThing LARS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024386 biolink:NamedThing large cell lung carcinoma, clear cell variant A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen. tmpak2llvmy_mondo_relaxed.owl clear cell carcinoma of the lung, large cell type|clear cell carcinoma of the lung|large cell lung carcinoma, clear cell variant|clear cell lung carcinoma, large cell type|clear cell carcinoma of lung, large cell type ONCOTREE:CCLC|UMLS:C1707407|NCIT:C4451 owl:Class UBERON:0003284 biolink:NamedThing mesentery of midgut A mesentery that is part of a midgut [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl midgut mesentery owl:Class HGNC:1833 biolink:NamedThing CEBPA tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0005410 biolink:NamedThing acute graft vs. host disease Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft. tmpak2llvmy_mondo_relaxed.owl EFO:0004599 Editor note: consider merging with parent owl:Class MONDO:0032851 biolink:NamedThing intellectual developmental disorder with impaired language and dysmorphic facies tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES|IDDILF OMIM:618653 owl:Class HGNC:9647 biolink:NamedThing PTPN14 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020765 biolink:NamedThing neuropathy, congenital hypomyelinating, 2 tmpak2llvmy_mondo_relaxed.owl NEUROPATHY, CONGENITAL HYPOMYELINATING, 2|CHN2 OMIM:618184 owl:Class MONDO:0010654 biolink:NamedThing Partington syndrome A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. tmpak2llvmy_mondo_relaxed.owl intellectual disability-dystonic movements-ataxia-seizures syndrome|Partington X-linked intellectual disability syndrome|PRTS|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures|X-linked intellectual disability-dystonia-dysarthria syndrome|Partington syndrome|mental retardation, X-linked 36|intellectual disability, X-linked, syndromic 1|Partington X-linked mental retardation syndrome|mental retardation, X-linked, syndromic 1|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|X-linked Russell-Silver syndrome|intellectual disability, X-linked 36|Partington-Mulley syndrome|MRXS1 DOID:14744|GARD:0004235|Orphanet:94083|OMIM:309510 owl:Class MONDO:0025690 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 2 tmpak2llvmy_mondo_relaxed.owl MEDS2 OMIM:619278 owl:Class MONDO:0032773 biolink:NamedThing uridine-cytidineuria tmpak2llvmy_mondo_relaxed.owl URIDINE-CYTIDINEURIA|URCTU OMIM:618477 owl:Class MONDO:0007408 biolink:NamedThing cryptotia, familial tmpak2llvmy_mondo_relaxed.owl cryptotia, familial UMLS:C1852455|OMIM:123557|MESH:C565140 owl:Class HGNC:26521 biolink:NamedThing LOXHD1 tmpak2llvmy_mondo_relaxed.owl owl:Class PATO:0001414 biolink:NamedThing catalytic activity A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009713 biolink:NamedThing myopia 18, autosomal recessive tmpak2llvmy_mondo_relaxed.owl myopia 18, autosomal recessive|MYP18 MESH:C567606|UMLS:C2749509|OMIM:255500 owl:Class MONDO:0020473 biolink:NamedThing dappled diaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q77.3|SCTID:389262009|Orphanet:99645|UMLS:C1300227|ICD9:756.59 owl:Class HP:0000035 biolink:NamedThing Abnormal testis morphology An anomaly of the testicle (the male gonad). tmpak2llvmy_mondo_relaxed.owl Abnormality of the testis|Anomaly of the testes UMLS:C0266423|SNOMEDCT_US:55631001 human_phenotype owl:Class MONDO:0009391 biolink:NamedThing hypermetabolism due to defect in mitochondria tmpak2llvmy_mondo_relaxed.owl hypermetabolism due to defect in mitochondria UMLS:C1855926|OMIM:238800|MESH:C565498 owl:Class MONDO:0032905 biolink:NamedThing spastic paraplegia 81, autosomal recessive tmpak2llvmy_mondo_relaxed.owl SPG81|SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE OMIM:618768 owl:Class MONDO:0019584 biolink:NamedThing localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. tmpak2llvmy_mondo_relaxed.owl Orphanet:90399|ICD10:L98.5 owl:Class MONDO:0032853 biolink:NamedThing myopathy, distal, 6, adult-onset, autosomal dominant tmpak2llvmy_mondo_relaxed.owl MPD6|MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM:618655 owl:Class MONDO:0016368 biolink:NamedThing Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. tmpak2llvmy_mondo_relaxed.owl poikiloderma of Rothmund-Thomson type 1|ROTHMUND-THOMSON SYNDROME, TYPE 1|RTS1|Poikiloderma Atrophicans and Cataract ICD10:Q82.8|UMLS:CN201233|Orphanet:221008|OMIM:618625 MONDO:0032840 owl:Class NCBITaxon:786 biolink:NamedThing Rickettsia akari tmpak2llvmy_mondo_relaxed.owl Dermacentroxenus murinus|agent of rickettsialpox|Gamasoxenus muris|rickettsialpox GC_ID:11 ncbi_taxonomy owl:Class MONDO:0018126 biolink:NamedThing progressive myoclonic epilepsy with dystonia A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. tmpak2llvmy_mondo_relaxed.owl PMED|progressive myoclonus epilepsy with dystonia Orphanet:352596|SCTID:763349002|ICD10:G40.3 owl:Class GO:1904081 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation. tmpak2llvmy_mondo_relaxed.owl positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from Pol II promoter involved in neuron differentiation owl:Class MONDO:0018826 biolink:NamedThing Lewis-Sumner syndrome A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. tmpak2llvmy_mondo_relaxed.owl multifocal acquired demyelinating sensory and motor neuropathy|MADSAM Orphanet:48162|GARD:0013070|MedDRA:10065580|ICD10:G61.8|UMLS:C1695985 https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome|https://github.com/monarch-initiative/mondo/issues/2760 owl:Class MONDO:0008366 biolink:NamedThing red cell permeability defect tmpak2llvmy_mondo_relaxed.owl elliptocytosis with transverse slitlike changes|red cell permeability defect OMIM:179650|UMLS:C1867340 owl:Class MONDO:0006377 biolink:NamedThing pleural biphasic mesothelioma Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. tmpak2llvmy_mondo_relaxed.owl pleural biphasic mesothelioma EFO:1000483|UMLS:C1709570|NCIT:C45665 owl:Class MONDO:0000930 biolink:NamedThing nodular malignant melanoma An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. tmpak2llvmy_mondo_relaxed.owl nodular malignant skin melanoma|nodular malignant melanoma of the skin|nodular melanoma (morphologic abnormality)|nodular malignant melanoma of skin|nodular melanoma|nodular cutaneous (skin) melanoma NCIT:C4225|DOID:10047|GARD:0009961|SCTID:254731001|UMLS:C0334424|EFO:0008515|ICDO:8721/3 owl:Class NBO:0000433 biolink:NamedThing withdrawal reflex "A reflex where the body reacts to pain or unpleasant stimuli by trying to move itself away from the source." [NBO:GVG] tmpak2llvmy_mondo_relaxed.owl nociceptive reflex|flexor withdrawal reflex owl:Class OBO:CHR_9606-chr15q11 biolink:NamedThing chr15q11 (Human) tmpak2llvmy_mondo_relaxed.owl 25500000 19000000 hg38 owl:Class MONDO:0021547 biolink:NamedThing amelogenesis imperfecta type 3B tmpak2llvmy_mondo_relaxed.owl amelogenesis imperfecta, type 3B|AI3B|amelogenesis imperfecta, type IIIB UMLS:CN373594|OMIM:617607|DOID:0080243 owl:Class MONDO:0030935 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 2 tmpak2llvmy_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 2|MC2DN2 OMIM:619166 owl:Class MONDO:0009720 biolink:NamedThing Keipert syndrome Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. tmpak2llvmy_mondo_relaxed.owl KPTS|nasodigitoacoustic syndrome|Keipert syndrome|nasodigitoacoustic syndrome, formerly UMLS:C1850627|MESH:C538337|ICD10:Q87.0|OMIM:255980|GARD:0000267|SCTID:763774001|Orphanet:2662|OMIM:301026 owl:Class HGNC:10768 biolink:NamedThing SF3B1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011250 biolink:NamedThing microcephaly, macrotia, and intellectual disability tmpak2llvmy_mondo_relaxed.owl microcephaly, macrotia, and intellectual disability|microcephaly, macrotia, and mental retardation MESH:C566525|OMIM:602555|UMLS:C1865204 owl:Class MONDO:0020401 biolink:NamedThing congenital unguarded mitral orifice Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:Q23.3|Orphanet:99060 owl:Class UBERON:0019303 biolink:NamedThing occipital sulcus tmpak2llvmy_mondo_relaxed.owl occipital lobe sulcus owl:Class MONDO:0008576 biolink:NamedThing toe, fifth, number of phalanges 1N tmpak2llvmy_mondo_relaxed.owl toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN OMIM:189000 owl:Class MONDO:0022866 biolink:NamedThing corneal dystrophy pigmentary anomaly malabsorption tmpak2llvmy_mondo_relaxed.owl GARD:0001530 https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption owl:Class MONDO:0008109 biolink:NamedThing ocular cicatricial pemphigoid Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. tmpak2llvmy_mondo_relaxed.owl OCP|cicatricial pemphigoid, ocular|ocular cicatricial pemphigoid|pemphigoid, ocular cicatricial UMLS:C1282359|GARD:0008759|EFO:0008610|OMIM:164185|SCTID:314757003|NCIT:C84939 https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid owl:Class HP:0000243 biolink:NamedThing Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. tmpak2llvmy_mondo_relaxed.owl Wedge shaped skull|Wedge shaped head|Wedge shaped cranium|Triangular head shape|Triangular cranium shape|Triangular skull shape UMLS:C4280666|UMLS:C4280665|MSH:D003398|UMLS:C0265535|SNOMEDCT_US:28740008 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. human_phenotype owl:Class MONDO:0008391 biolink:NamedThing Robinow-Sorauf syndrome tmpak2llvmy_mondo_relaxed.owl acrocephalosyndactyly, Robinow-Sorauf type|Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome MESH:C537183|Orphanet:3106|OMIM:180750|UMLS:C1867146|UMLS:CN203672 owl:Class N04ff990344bc490e990a7d54fd145905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0004555 biolink:NamedThing alpha,alpha-trehalase activity Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose. tmpak2llvmy_mondo_relaxed.owl alpha,alpha-trehalose glucohydrolase activity owl:Class MONDO:0011942 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1 OMIM:607965 owl:Class HGNC:12410 biolink:NamedThing TUBA8 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:10545 biolink:NamedThing electron Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. tmpak2llvmy_mondo_relaxed.owl beta(-)|Elektron|e-|beta|electron|e|negatron|e(-)|beta-particle owl:Class HGNC:13487 biolink:NamedThing VPS35 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001928 biolink:NamedThing Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. tmpak2llvmy_mondo_relaxed.owl Coagulation abnormality|Coagulation abnormalities|Blood coagulation disorder|Haemorrhagic disorders|Abnormal blood coagulation studies UMLS:C1846821|UMLS:C0019087|SNOMEDCT_US:64779008|SNOMEDCT_US:362970003|UMLS:C0005779|MSH:D006474|MSH:D001778 human_phenotype owl:Class HGNC:20323 biolink:NamedThing SMOC2 tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0003713 biolink:NamedThing splenic vein A vein arising from the splenic trabecular vein in the hilum of the spleen that drains into the portal vein. tmpak2llvmy_mondo_relaxed.owl vena splenica|lienal vein|vena lienalis owl:Class HGNC:2665 biolink:NamedThing CD55 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:54292 biolink:NamedThing Apodemus flavicollis tmpak2llvmy_mondo_relaxed.owl Yellow-necked field mouse|Sylvaemus flavicollis GC_ID:1 ncbi_taxonomy owl:Class HP:0030159 biolink:NamedThing Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. tmpak2llvmy_mondo_relaxed.owl Cervical tumour|Cervical tumor UMLS:C0007855|SNOMEDCT_US:65576009|UMLS:C0007873|SNOMEDCT_US:123841004|MSH:D002583 human_phenotype owl:Class HGNC:9905 biolink:NamedThing RBM8A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009863 biolink:NamedThing BH4-deficient hyperphenylalaninemia A An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. tmpak2llvmy_mondo_relaxed.owl tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|hyperphenylalanemia, BH4-deficient, A|PTS deficiency|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia, Bh4-deficient, type a|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|BH4-deficient hyperphenylalaninemia A|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|HPABH4A|6-pyruvoyl tetrahydropterin synthase deficiency|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient A GARD:0005682|MESH:C535325|UMLS:C0878676|OMIM:261640|Orphanet:13|SCTID:237914002|ICD10:E70.1|NCIT:C138171|GARD:5682|DOID:0090106 owl:Class Nbf8edb4ff7ea48de8d41439404afa50c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014695 biolink:NamedThing glioma susceptibility 9 Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene. tmpak2llvmy_mondo_relaxed.owl malignant glioma caused by mutation in POT1|POT1 malignant glioma|malignant glioma caused by mutation in Pot1|glioma susceptibility type 9|glioma susceptibility 9|Pot1 malignant glioma|GLM9 OMIM:616568 owl:Class Naf390a80acd74232bfd1c37983c56b54 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:3948 biolink:NamedThing FRAXD tmpak2llvmy_mondo_relaxed.owl owl:Class ECTO:0000730 biolink:NamedThing exposure to neurotoxin An exposure to neurotoxin. tmpak2llvmy_mondo_relaxed.owl exposure to neurotoxin owl:Class NCBITaxon:34607 biolink:NamedThing Amblyomma cajennense tmpak2llvmy_mondo_relaxed.owl Acarus cajennensis|Cayenne tick GC_ID:1 NCBITaxon:59639 ncbi_taxonomy owl:Class Nf76c9fce5d98487687b3981dc2d0940e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012982 biolink:NamedThing episodic ataxia type 6 Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. tmpak2llvmy_mondo_relaxed.owl SLC1A3 hereditary episodic ataxia|episodic ataxia, type 6|hereditary episodic ataxia caused by mutation in SLC1A3|EA6|episodic ataxia type 6 DOID:0050994|UMLS:C2675211|ICD10:G11.8|MESH:C567207|Orphanet:209967|SCTID:718753002|OMIM:612656 owl:Class HGNC:14234 biolink:NamedThing NSD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014156 biolink:NamedThing atrial fibrillation, familial, 14 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene. tmpak2llvmy_mondo_relaxed.owl ATFB14|atrial fibrillation, familial, 14|SCN2B familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN2B|atrial fibrillation, familial, type 14 UMLS:C3809312|OMIM:615378 owl:Class UBERON:0016853 biolink:NamedThing interdigital gland A skin gland found in the interdigital region of some mammals tmpak2llvmy_mondo_relaxed.owl interdigital sinus owl:Class ENVO:01000304 biolink:NamedThing high pressure environment A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area. tmpak2llvmy_mondo_relaxed.owl owl:Class N93465d2ae6d6446a922dc2d7e077a328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:1990613 biolink:NamedThing mitochondrial membrane fusion The joining of two lipid bilayers that surround the mitochondria. tmpak2llvmy_mondo_relaxed.owl owl:Class Nd0af28b169584ee989e690a296b1b787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N3334568473074a91963e63147e050f4a biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UBERON:0006872 biolink:NamedThing handplate apical ectodermal ridge An apical ectodermal ridge that is part of a handplate. tmpak2llvmy_mondo_relaxed.owl owl:Class N8b88562b3bd24f698f61d13c6563391e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nffe69d4c635949de99d77051f15bace9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:10599 biolink:NamedThing SCNN1A tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:621 biolink:NamedThing Shigella boydii tmpak2llvmy_mondo_relaxed.owl PMID:16561743|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:86056 biolink:NamedThing Rhinocladiella mackenziei tmpak2llvmy_mondo_relaxed.owl Ramichloridium mackenziei GC_ID:1 ncbi_taxonomy owl:Class GO:0060055 biolink:NamedThing angiogenesis involved in wound healing Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury. tmpak2llvmy_mondo_relaxed.owl owl:Class OBO:CARO_0010000 biolink:NamedThing multicellular anatomical structure tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11571 biolink:NamedThing TARDBP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010091 biolink:NamedThing Cold-induced sweating syndrome 1 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. tmpak2llvmy_mondo_relaxed.owl CRISPONI/cold-induced sweating syndrome 1|cold-induced sweating syndrome type 1|CISS1|Sohar-Crisponi syndrome|cold-induced sweating syndrome 1|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|Crisponi/cold-induced sweating syndrome 1|Crisponi syndrome Orphanet:1545|OMIM:272430|ICD10:G90.8|MESH:C536214|SCTID:725097006|GARD:0001611|DOID:0080329 owl:Class MONDO:0005104 biolink:NamedThing aJCC grade 1 sarcoma Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) tmpak2llvmy_mondo_relaxed.owl aJCC grade 1 sarcoma|aJCC G1 sarcoma|aJCC grade I sarcoma|well differentiated sarcoma EFO:0000737|UMLS:C1332066|NCIT:C9419 owl:Class N3ce4d3cbcc924a6aa01bea8e9bb9cda1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ENVO:01000798 biolink:NamedThing plasma A material entity which is composed of a volume of unbound positive and negative particles in roughly equal numbers, conducts electricity, and possesses internal magnetic fields. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002224 biolink:NamedThing malignant ovarian cyst A cystic cancerous tumor arising from the ovary. tmpak2llvmy_mondo_relaxed.owl malignant ovarian cyst|malignant ovarian cyst (disease)|ovarian cyst (disease), malignant UMLS:C0235770|NCIT:C3843|DOID:2145 owl:Class HGNC:18130 biolink:NamedThing SYCP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006545 biolink:NamedThing erythema multiforme Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). tmpak2llvmy_mondo_relaxed.owl Dermatostomatitis, erythema multiforme type|Herpes iris, erythema multiforme type|EM|erythema polymorphe, erythema multiforme type|erythema multiforme bullosum|febrile mucocutaneous syndrome EFO:1000694|ICD9:695.10|DOID:0050185|NCIT:C3024|GARD:0006372|ICD10:L51|MESH:D004892|ICD9:695.1|SCTID:36715001|UMLS:C0014742 https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme owl:Class HGNC:16783 biolink:NamedThing CDC73 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0014318 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 4 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. tmpak2llvmy_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome type 4|HPMRS4|PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|hyperphosphatasia with mental retardation syndrome 4|hyperphosphatasia with mental retardation syndrome type 4 UMLS:C3810354|OMIM:615716 owl:Class HP:0100257 biolink:NamedThing Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. tmpak2llvmy_mondo_relaxed.owl Cleft hand|Lobster claw hand MSH:C574275|UMLS:C0265554|SNOMEDCT_US:13624003|SNOMEDCT_US:81208006 Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. doelkens 2010-07-15T03:56:58Z human_phenotype owl:Class N02583d9de90943d281dc5f554e547fc8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nddfac795f4904528a40c01e8e9ff510b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013426 biolink:NamedThing aneurysm-osteoarthritis syndrome tmpak2llvmy_mondo_relaxed.owl aneurysms-osteoarthritis syndrome|aneurysm - osteoarthritis syndrome|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome, type 1C (formerly)|Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome, type 1C|aneurysm-osteoarthritis syndrome|LDS3|Loeys-Dietz syndrome with osteoarthritis UMLS:C3151087|DOID:0070237|Orphanet:284984|OMIM:613795|GARD:0010997 owl:Class Nc18b0a2b7f1e45358ddecf04d838b919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nd80d20ec3ee947608250e1fad9d98d19 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N16fa042b5abe4d29ae08c49e90784bf6 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:649 biolink:NamedThing ARCN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012361 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 5 tmpak2llvmy_mondo_relaxed.owl SLEB5|systemic lupus erythematosus, susceptibility to, 5 OMIM:609903 owl:Class CL:0002575 biolink:NamedThing central nervous system pericyte A pericyte of the central nervous system. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-02T02:54:18Z cell owl:Class CL:2000043 biolink:NamedThing brain pericyte Any pericyte cell that is part of a brain. tmpak2llvmy_mondo_relaxed.owl TermGenie 2014-07-09T00:18:22Z cell owl:Class Nc1c8d2f6ea024414aa346fbecea7ee1f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:7373 biolink:NamedThing MSN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013471 biolink:NamedThing autosomal recessive nonsyndromic deafness 61 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene. tmpak2llvmy_mondo_relaxed.owl deafness, autosomal recessive 61|autosomal recessive nonsyndromic deafness type 61|autosomal recessive deafness 61|DFNB61|deafness, autosomal recessive type 61|SLC26A5 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5 DOID:0110513|ICD10:H90.3|OMIM:613865|UMLS:C3151230 owl:Class OBO:CHR_9606-chr10q24 biolink:NamedThing chr10q24 (Human) tmpak2llvmy_mondo_relaxed.owl 104000000 95300000 hg38 owl:Class HGNC:2859 biolink:NamedThing DHCR24 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002917 biolink:NamedThing Hypomagnesemia An abnormally decreased magnesium concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Low blood Mg levels|Low blood magnesium levels UMLS:C0151723|SNOMEDCT_US:190855004 HP:0003284 human_phenotype owl:Class MONDO:0021290 biolink:NamedThing carcinoma in situ of appendix A in situ carcinoma that involves the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl stage 0 appendix carcinoma|vermiform appendix carcinoma in situ|stage 0 appendix cancer|stage 0 appendix carcinoma aJCC v7|carcinoma in situ of vermiform appendix|stage 0 vermiform appendix carcinoma|vermiform appendix in situ carcinoma|carcinoma in situ of the appendix UMLS:C0347125|NCIT:C4593|SCTID:92539008 owl:Class HGNC:26113 biolink:NamedThing TCTN1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:1335626 biolink:NamedThing Middle East respiratory syndrome-related coronavirus tmpak2llvmy_mondo_relaxed.owl MERS coronavirus|Middle East respiratory syndrome coronavirus|Middle East Respiratory Syndrome Coronavirus (MERS-CoV)|MERS virus|MERS-CoV|MERS GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014183 biolink:NamedThing myopia 23, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MYP23|myopia 23, autosomal recessive UMLS:C3809482|OMIM:615431 owl:Class HGNC:13433 biolink:NamedThing ROBO3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0000484 biolink:NamedThing connective tissue type mast cell Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent. tmpak2llvmy_mondo_relaxed.owl TC mast cells|MCTC|MC(TC) They are CD88-positive. The cytoplasmic granules contain high levels of histamine and heparin (mouse) or major neutral proteases, tryptase, chymase, carboxypeptidase A, and cathepsin G (humans). Reportedly, they cannot produce leukotrienes (LTC4) and IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. cell owl:Class HGNC:29419 biolink:NamedThing EARS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0024675 biolink:NamedThing adult kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. tmpak2llvmy_mondo_relaxed.owl adult nephroblastoma|adenosarcoma of the adult kidney|adult renal Wilms' tumor|adult kidney Wilms tumor|adenosarcoma of adult kidney|kidney Wilms tumor of adults|adult renal adenosarcoma|adult renal Wilms tumor|adult kidney adenosarcoma UMLS:C1332219|NCIT:C6180 owl:Class N0e88d7b51d314617b07f4e16553159c8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N62bdfb1146e749f2a27d67df04edd243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:17020 biolink:NamedThing IRAK3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:8724 biolink:NamedThing PCK1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016385 biolink:NamedThing hypogonadism-mitral valve prolapse-intellectual disability syndrome This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. tmpak2llvmy_mondo_relaxed.owl primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome|Cantalamessa-Baldini-Ambrosi syndrome Orphanet:2233|SCTID:721841001|UMLS:C2931685|ICD10:Q87.8|GARD:0001078|MESH:C537981 owl:Class MONDO:0019983 biolink:NamedThing multiloculated renal cyst tmpak2llvmy_mondo_relaxed.owl multilocular renal cyst|multilocular cyst of the kidney SCTID:86463003|Orphanet:97366 owl:Class MONDO:0012969 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 5 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene. tmpak2llvmy_mondo_relaxed.owl retinopathy, diabetic, susceptibility to|MVCD5|microvascular complications of diabetes, susceptibility to, type 5|PON1 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, 5 OMIM:612633 owl:Class NCBITaxon:118655 biolink:NamedThing Oropouche virus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013507 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 tmpak2llvmy_mondo_relaxed.owl CDG3|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3|CGD, autosomal recessive cytochrome B-positive, type 3|granulomatous disease, chronic, due to Ncf4 deficiency OMIM:613960|UMLS:C3151409|DOID:0070194 owl:Class Ncb33d1cb76ca4e1581d98d4393ec5867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:1502 biolink:NamedThing Clostridium perfringens tmpak2llvmy_mondo_relaxed.owl Bacillus perfringens|Bacterium welchii|Clostridium plagarum|'Clostridium plagarum' PMID:1374625|PMID:184898|GC_ID:11 NCBITaxon:1683536 ncbi_taxonomy owl:Class Nf0f4cd2fc9794ce28cfe64605264157e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001274 biolink:NamedThing anal spasm tmpak2llvmy_mondo_relaxed.owl ICD10:K59.4|DOID:11374|UMLS:C0152167|SCTID:17440005|ICD9:564.6 owl:Class MONDO:0013978 biolink:NamedThing autosomal recessive nonsyndromic deafness 70 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|PNPT1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 70|DFNB70|autosomal recessive nonsyndromic deafness type 70|autosomal recessive deafness 70|deafness, autosomal recessive 70 DOID:0110521|ICD10:H90.3|OMIM:614934|UMLS:C1824925 owl:Class MONDO:0032622 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 17 tmpak2llvmy_mondo_relaxed.owl MC1DN17|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 OMIM:618239 owl:Class HGNC:21157 biolink:NamedThing GTF2H5 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0000781 biolink:NamedThing chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). tmpak2llvmy_mondo_relaxed.owl telomere|nuclear chromosome, telomeric region|nuclear chromosome, telomere owl:Class N5c3c5cbe943d4b07aef404a25e540bed biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004058 biolink:NamedThing pancreatic cholera A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. tmpak2llvmy_mondo_relaxed.owl excessive vasoactive intestinal peptide secretion|pancreatic WDHA syndrome|watery diarrhea with hypokalemic alkalosis|islet cell WDHA syndrome|Verner Morrison syndrome|WDHA syndrome|WDHH|watery diarrhea syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome 2021-02-01 DOID:6977|SCTID:39998009|NCIT:C3488|ICD9:259.3 Reason: duplicate. This will be merged with MONDO:0019960 VIPoma owl:Class Nc879a30d9e414a4194060a57ca167233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:13281 biolink:NamedThing ESPN tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0061311 biolink:NamedThing cell surface receptor signaling pathway involved in heart development Any series of molecular signals initiated by the binding of a receptor on the surface of a cell to a physiological ligand, which contributes to the progression of the heart over time. tmpak2llvmy_mondo_relaxed.owl cell surface receptor linked signalling pathway involved in heart development|cell surface receptor linked signaling pathway involved in heart development owl:Class HGNC:17997 biolink:NamedThing FKRP tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009096 biolink:NamedThing hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|familial dementia, Neumann type|subcortical gliosis of Neumann|hereditary diffuse leukoencephalopathy with spheroids|gliosis, familial progressive subcortical|POLD|familial progressive subcortical gliosis|neuroaxonal leukodystrophy|hereditary diffuse leukoencephalopathy with axonal spheroids|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|ALSP|GPSC|adult-onset leukodystrophy with neuroaxonal spheroids|dementia, familial, Neumann type|leukoencephalopathy, hereditary diffuse, with spheroids|HDLS|FPSG|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|leukoencephalopathy, diffuse hereditary, with spheroids|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|pigmentary orthochromatic leukodystrophy OMIM:221820|GARD:0010981|NCIT:C153289|MESH:C580150|ICD10:E75.2|DOID:0080523|SCTID:702427005|ICD9:323.81|UMLS:C3711381|Orphanet:313808 owl:Class MONDO:0010258 biolink:NamedThing MEHMO syndrome MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. tmpak2llvmy_mondo_relaxed.owl X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|syndromic X-linked intellectual disability 20|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|mental retardation, X-linked, syndromic 25|syndromic X-linked mental retardation 25|intellectual disability, X-linked, syndromic 20|MRXS25|MRXS20|X-linked MEHMO syndrome|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|MRXSBRK|syndromic X-linked intellectual disability 25|mental retardation, X-linked, syndromic, Borck type|MEHMO syndrome|mental retardation, X-linked, syndromic 20|syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic, Borck type|MEHMO|intellectual disability, X-linked, syndromic 25 SCTID:722037004|Orphanet:85282|ICD10:Q87.8|DOID:0060801|UMLS:C1846278|UMLS:C4310813|OMIM:300148|OMIM:300987|GARD:0009178|MESH:C537451 owl:Class Nbb74906a31b1497597b16f2ca769db07 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:5461 biolink:NamedThing IGBP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016655 biolink:NamedThing 6p22 microdeletion syndrome 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. tmpak2llvmy_mondo_relaxed.owl Del(6)(p22)|monosomy 6p22 SCTID:719662000|ICD10:Q93.5|UMLS:CN201884|UMLS:C4304528|Orphanet:251046 owl:Class HGNC:22082 biolink:NamedThing VMA21 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008892 biolink:NamedThing progressive familial intrahepatic cholestasis type 1 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. tmpak2llvmy_mondo_relaxed.owl Byler disease|FIC1 deficiency|severe ATP8B1 deficiency|PFIC1|cholestasis, progressive familial intrahepatic, type 1|cholestasis, fatal intrahepatic|Byler's disease|progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, 1 GARD:0009802|OMIM:211600|ICD10:K76.8|UMLS:CN205891|Orphanet:79306|DOID:0070226 owl:Class MONDO:0010432 biolink:NamedThing thrombophilia, X-linked, due to factor 9 defect A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). tmpak2llvmy_mondo_relaxed.owl THPH8|thrombophilia, X-linked, due to factor 9 defect|deep Venous thrombosis, protection against|thrombophilia, X-linked, due to factor IX defect OMIM:300807|MESH:C567581|UMLS:C2749016 owl:Class HGNC:19041 biolink:NamedThing COQ8B tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0006226 biolink:NamedThing endolymphatic appendage tmpak2llvmy_mondo_relaxed.owl owl:Class Nda119942394f4697898bca307ac5910e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HGNC:4172 biolink:NamedThing GATA3 tmpak2llvmy_mondo_relaxed.owl owl:Class Nfa52cc90733c4c1aa655f72a13a7323b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008210 biolink:NamedThing patterned macular dystrophy 1 Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpak2llvmy_mondo_relaxed.owl MDPT1|PRPH2 patterned macular dystrophy|butterfly-shaped pigment dystrophy of the fovea|macular dystrophy, patterned, type 1|macular dystrophy, patterned, 1|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, butterfly-Shaped pigmentary|patterned dystrophy of retinal pigment epithelium|butterfly-shaped pigmentary maculary dystrophy 1|patterned macular dystrophy type 1|butterfly dystrophy of retinal pigment epithelium|macular dystrophy, butterfly-shaped pigmentary OMIM:169150|DOID:0060866 owl:Class MONDO:0014973 biolink:NamedThing sudden cardiac failure, infantile tmpak2llvmy_mondo_relaxed.owl sudden Cardiac failure, infantile|SCFI|sudden cardiac failure, infantile; SCFI OMIM:617222|UMLS:C4310664 owl:Class HP:0004381 biolink:NamedThing Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. tmpak2llvmy_mondo_relaxed.owl MSH:D021921|UMLS:C0003499|SNOMEDCT_US:268185002|Fyler:1430 peter 2008-03-18T08:54:00Z human_phenotype owl:Class N87a6f06fa5e748f882413745570e0129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010104 biolink:NamedThing non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. tmpak2llvmy_mondo_relaxed.owl teeth noneruption of with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Stoelinga de Koomen Davis syndrome|non erupted teeth with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome|teeth, noneruption of, with maxillary hypoplasia and genu valgum OMIM:273050|UMLS:C1848903|SCTID:723442008|Orphanet:2972|GARD:0005127|GARD:0005027 owl:Class CL:0002005 biolink:NamedThing CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. tmpak2llvmy_mondo_relaxed.owl Markers are associated with human cell type. tmeehan 2010-01-13T03:43:10Z cell owl:Class GO:0036194 biolink:NamedThing muscle cell projection A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpak2llvmy_mondo_relaxed.owl myocyte projection|muscle arm|myopodia owl:Class MONDO:0044875 biolink:NamedThing coronary microvascular disease A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. tmpak2llvmy_mondo_relaxed.owl coronary microvascular disease|microvascular endothelium heart disease|CMD|heart disease of microvascular endothelium NCIT:C84478 owl:Class MONDO:0011395 biolink:NamedThing cone-rod dystrophy 3 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene. tmpak2llvmy_mondo_relaxed.owl cone-rod dystrophy type 3|cone-rod dystrophy 3|CORD3|ABCA4 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ABCA4 MESH:C565827|GARD:0010653|OMIM:604116|UMLS:C1858806|DOID:0111013 https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3 owl:Class NCBITaxon:70999 biolink:NamedThing Triatominae tmpak2llvmy_mondo_relaxed.owl kissing bugs GC_ID:1 ncbi_taxonomy owl:Class GO:0042246 biolink:NamedThing tissue regeneration The regrowth of lost or destroyed tissues. tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0008424 biolink:NamedThing inguinal mammary gland A mammary gland that is part of a inguinal part of abdomen. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11535 biolink:NamedThing TAF1 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:779 biolink:NamedThing Ehrlichia ruminantium tmpak2llvmy_mondo_relaxed.owl heartwater rickettsia|Rickettsia ruminantium|Kurlovia ruminantium|Cowdria ruminantium|Nicollea ruminantium GC_ID:11|PMID:1581187|PMID:1380292|PMID:11760958|PMID:11414267 ncbi_taxonomy owl:Class HGNC:3663 biolink:NamedThing FGD1 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0030016 biolink:NamedThing myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:11752 biolink:NamedThing TFE3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004067 biolink:NamedThing gallbladder mucinous adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpak2llvmy_mondo_relaxed.owl gallbladder mucinous adenocarcinoma|colloid carcinoma of the gallbladder|mucinous carcinoma of the gallbladder|colloidal carcinoma of the gallbladder|gallbladder mucinous carcinoma|colloid carcinoma of gallbladder|gallbladder colloidal carcinoma|mucinous carcinoma of gallbladder|colloidal carcinoma of gallbladder|gall bladder mucinous adenocarcinoma|gallbladder colloid carcinoma UMLS:C1333750|DOID:6998|NCIT:C5744 owl:Class HGNC:29174 biolink:NamedThing WASHC4 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0012730 biolink:NamedThing Aglossia Absence of the tongue owing to a developmental abnormality. tmpak2llvmy_mondo_relaxed.owl Absence of tongue|Failure of development of tongue|Missing tongue SNOMEDCT_US:74788000|UMLS:C0158663 peter 2014-03-23T02:30:53Z human_phenotype owl:Class HGNC:20731 biolink:NamedThing GNB4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001001 biolink:NamedThing baritosis A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. tmpak2llvmy_mondo_relaxed.owl deposition of barium in the lungs|inhalation of barytes UMLS:C0340177|NCIT:C34410|SCTID:50076003|GARD:0008371|ICD9:503|MESH:C537080|DOID:10321 Editor note: request term from ENVO https://rarediseases.info.nih.gov/diseases/8371/baritosis owl:Class MONDO:0008060 biolink:NamedThing nonsyndromic congenital nail disorder 1 Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails. tmpak2llvmy_mondo_relaxed.owl nonsyndromic congenital nail disorder type 1|FZD6 inherited isolated nail anomaly|trachyonychia|nail disorder, nonsyndromic congenital, 1|nail disorder, nonsyndromic congenital, 10|nonsyndromic congenital nail disorder 10|onychauxis, hyponychia, and onycholysis|nail Growth|inherited isolated nail anomaly caused by mutation in FZD6|NDNC10|twenty-nail dystrophy|nail disorder, nonsyndromic congenital, type 10|sandpaper nails|NDNC1|onychodystrophy totalis|twenty nail dystrophy|claw-Shaped nails|idiopathic trachyonychia|nonsyndromic congenital nail disorder type 10|autosomal dominant nail dysplasia|onychodystrophy totalis, isolated|nail disorder, nonsyndromic congenital 1|autosomal recessive nail dysplasia ICD10:L60.3|GARD:0010363|DOID:0080088|DOID:0080079|Orphanet:280654|UMLS:C0406443|SCTID:238719003|ICD10:Q84.6|ICD9:703.8|OMIM:161050|UMLS:C3279974|OMIM:614157|Orphanet:79153|MESH:C562907 owl:Class HP:0005541 biolink:NamedThing Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. tmpak2llvmy_mondo_relaxed.owl MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118 human_phenotype owl:Class HGNC:18084 biolink:NamedThing TRPV3 tmpak2llvmy_mondo_relaxed.owl owl:Class CL:0002603 biolink:NamedThing astrocyte of the cerebellum An astrocyte of the cerebellum. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-03-06T06:57:27Z cell owl:Class MONDO:0032792 biolink:NamedThing neuropathy, hereditary motor and sensory, type VIc, with optic atrophy tmpak2llvmy_mondo_relaxed.owl HMSN6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy|CMT 6C|HMSN 6C|CMT6C|Charcot-Marie-Tooth Disease, Type 6C OMIM:618511 owl:Class MONDO:0011860 biolink:NamedThing leprosy, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl LPRS2|leprosy, susceptibility to, 2 UMLS:C1843632|OMIM:607572 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class HGNC:30972 biolink:NamedThing SECISBP2 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18957 biolink:NamedThing MAGI2 tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0010669 biolink:NamedThing epithelial structure maintenance A tissue homeostatic process required for the maintenance of epithelial structure. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010723 biolink:NamedThing retinitis pigmentosa 2 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene. tmpak2llvmy_mondo_relaxed.owl retinitis pigmentosa caused by mutation in RP2|retinitis pigmentosa type 2|RP2 retinitis pigmentosa|RP2|retinitis pigmentosa 2 MESH:C567523|OMIM:312600|UMLS:C2681923|ICD10:H35.5|DOID:0110415 owl:Class ENVO:01001838 biolink:NamedThing arid biome A biome which is subject to arid environmental conditions. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:1513 biolink:NamedThing CASQ2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032608 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 3 tmpak2llvmy_mondo_relaxed.owl MC1DN3|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 OMIM:618224 owl:Class N601ac16a85164dbfbed6d502c6598e54 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014826 biolink:NamedThing nucleoside diphosphate-linked moiety X Motif 15 deficiency tmpak2llvmy_mondo_relaxed.owl THPM2|Thiopurines, poor metabolism Of, 2|nucleoside diphosphate-linked moiety X Motif 15 deficiency|THIOPURINES, poor metabolism OF, 2|Nudt15 deficiency|NUDT15D|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D UMLS:C4225160|OMIM:616903 owl:Class HGNC:5181 biolink:NamedThing HRG tmpak2llvmy_mondo_relaxed.owl owl:Class Neea548ab6a134641b4c0213163489930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0001373 biolink:NamedThing Joint dislocation Displacement or malalignment of joints. tmpak2llvmy_mondo_relaxed.owl Recurrent joint dislocations|Joint dislocation|Joint dislocations SNOMEDCT_US:108367008|MSH:D004204|SNOMEDCT_US:87642003|UMLS:C0012691 Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. HP:0005837|HP:0002772 human_phenotype owl:Class GO:0010877 biolink:NamedThing lipid transport involved in lipid storage The directed movement of lipids into cells that is part of their accumulation and maintenance. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:16841 biolink:NamedThing LITAF tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0007297 biolink:NamedThing presumptive pronephric mesoderm A presumptive structure that has the potential to develop into a pronephric mesoderm. tmpak2llvmy_mondo_relaxed.owl nephron primordium owl:Class HGNC:1971 biolink:NamedThing CHST3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:20716 biolink:NamedThing KLC2 tmpak2llvmy_mondo_relaxed.owl owl:Class Ne93eca0f44c1425f840d446050e72350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:63419 biolink:NamedThing Trichophyton concentricum tmpak2llvmy_mondo_relaxed.owl Endodermophyton concentricum|Oospora concentrica|Aspergillus concentricum|Mycoderma concentricum|Achorion concentricum|Lepidophyton concentricum GC_ID:1 ncbi_taxonomy owl:Class Na6e15cc786a34c23b174a283bd68b93d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N06b555c67ce84227827276ad3d78ea60 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03400139 biolink:NamedThing multicomponent meal (us cfr) A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines. tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0139 compartmentalized dinner|dinner, compartmentalized|heat and serve dinner|food packs with separate components|dinner with components separated in serving containers|multiple-course dinner|tv dinner http://langual.org owl:Class MONDO:0014860 biolink:NamedThing polycystic liver disease 2 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. tmpak2llvmy_mondo_relaxed.owl polycystic liver disease 2; PCLD2|polycystic liver disease type 2|PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease 2 OMIM:617004|UMLS:C4310769 owl:Class HGNC:30883 biolink:NamedThing TMEM126B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011953 biolink:NamedThing familial acute necrotizing encephalopathy Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. tmpak2llvmy_mondo_relaxed.owl susceptibility to acute necrotizing encephalopathy|ANE1|Postinfectious acute necrotizing hemorrhagic encephalopathy|IIAE3|autosomal dominant acute necrotizing encephalopathy|recurrent acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|infection-induced acute encephalopathy 3|acute necrotizing encephalopathy type 1|encephalopathy, acute necrotizing, susceptibility to|susceptibility to infection-induced acute encephalopathy 3|susceptibility to acute infection-induced encephalopathy-3 SCTID:723359002|UMLS:C4509836|GARD:0013232|OMIM:608033|Orphanet:88619 owl:Class Nb0aa86534ea04c5ab6d48b59a174af87 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:436489 biolink:NamedThing Saurischia tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011480 biolink:NamedThing autosomal dominant nonsyndromic deafness 20 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. tmpak2llvmy_mondo_relaxed.owl ACTG1 autosomal dominant nonsyndromic deafness|Dfna26|DFNA20|DFNA26|deafness, autosomal dominant 20|deafness, autosomal dominant type 20|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|autosomal dominant nonsyndromic deafness type 20|autosomal dominant deafness 20 DOID:0110550|OMIM:604717|MESH:C565754|UMLS:C1858172|ICD10:H90.3 owl:Class N9c9d5da5871149d2a169cb0f390a4a63 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nf32b63d7b31648b5bc756432e9f8dcf1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014955 biolink:NamedThing retinal dystrophy with or without extraocular anomalies tmpak2llvmy_mondo_relaxed.owl retinal dystrophy with or without extraocular anomalies|RDEOA|retinal dystrophy with or without extraocular anomalies; RDEOA OMIM:617175|UMLS:C4310680 owl:Class MONDO:0012581 biolink:NamedThing osteogenesis imperfecta type 8 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene. tmpak2llvmy_mondo_relaxed.owl osteogenesis imperfecta caused by mutation in P3H1|osteogenesis imperfecta type VIII|OI type VIII|osteogenesis imperfecta type 8|osteogenesis imperfecta, type VIII|osteogenesis imperfecta, type 8|OI, type 8|OI8|P3H1 osteogenesis imperfecta MESH:C536049|GARD:0010152|DOID:0110336|ICD10:Q78.0|OMIM:610915 owl:Class HGNC:19316 biolink:NamedThing P3H1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015005 biolink:NamedThing epilepsy, early-onset, vitamin B6-dependent tmpak2llvmy_mondo_relaxed.owl epilepsy, early-onset, vitamin B6-dependent; EPVB6D|epilepsy, early-onset, vitamin B6-dependent|EPVB6D UMLS:C4310632|OMIM:617290 owl:Class UBERON:0011213 biolink:NamedThing root of vagus nerve A root of cranial nerve that is part of a vagus nerve. tmpak2llvmy_mondo_relaxed.owl rootlet of vagus nerve|vagal root|vagus neural rootlet|vagus nerve root|rX|vagus root owl:Class MONDO:0014137 biolink:NamedThing precocious puberty, central, 2 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. tmpak2llvmy_mondo_relaxed.owl MKRN3 central precocious puberty|CPPB2|precocious puberty, central, type 2|central precocious puberty caused by mutation in MKRN3|precocious puberty, central, 2 UMLS:C3809199|OMIM:615346 owl:Class Naf7efd1b858f44d6a89ef362367d1a47 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0002524 biolink:NamedThing Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. tmpak2llvmy_mondo_relaxed.owl UMLS:C0007384|SNOMEDCT_US:46263000|MSH:D002385 Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. HP:0002428|HP:0002525 human_phenotype owl:Class HP:0000815 biolink:NamedThing Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. tmpak2llvmy_mondo_relaxed.owl Primary hypogonadism|Hypergonadotrophic hypogonadism SNOMEDCT_US:370999003|UMLS:C0948896|MSH:D007006 HP:0008679 human_phenotype owl:Class N1aa74a27609d4135b1236764e9ca64ac biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0000802 biolink:NamedThing Impotence Inability to develop or maintain an erection of the penis. tmpak2llvmy_mondo_relaxed.owl Difficulty getting an erection|Difficulty getting a full erection MSH:D007172|UMLS:C0242350|SNOMEDCT_US:397803000 human_phenotype owl:Class NCBITaxon:2104 biolink:NamedThing Mycoplasma pneumoniae tmpak2llvmy_mondo_relaxed.owl Filterable agent of primary atypical pneumonia|Schizoplasma pneumoniae|Mycoplasmoides pneumoniae|Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018 PMID:31385780|PMID:31971499|PMID:19871393|PMID:4867945|GC_ID:4|PMID:29556819 ncbi_taxonomy owl:Class MONDO:0009876 biolink:NamedThing isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3. tmpak2llvmy_mondo_relaxed.owl isolated growth hormone deficiency, type IA|congenital isolated growth hormone deficiency type IA|IGHD 1A|isolated growth hormone deficiency type IA|ILLIG type growth hormone deficiency|non-acquired isolated growth hormone deficiency|Illig-type Growth hormone deficiency|Growth hormone deficiency, isolated autosomal recessive|congenital IGHD type IA|isolated growth hormone deficiency type 1A|primordial dwarfism|congenital isolated GH deficiency|congenital isolated GH deficiency type IA|isolated Growth hormone deficiency, type 1A|Illig-type growth hormone deficiency|pituitary dwarfism I|autosomal recessive isolated growth hormone deficiency|congenital IGHD|pituitary dwarfism 1|sexual ateleiotic dwarfism|Growth hormone deficiency, isolated, autosomal recessive|IGHD1A|IGHD IA|congenital isolated growth hormone deficiency OMIM:262400|SCTID:237837007|ICD9:259.4|MESH:C537404|GARD:0007399|ICD10:E23.0|DOID:0060873|Orphanet:231662 https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a owl:Class MONDO:0030862 biolink:NamedThing COACH syndrome 3 tmpak2llvmy_mondo_relaxed.owl COACH3 OMIM:619113 owl:Class MONDO:0005821 biolink:NamedThing late congenital syphilis tmpak2llvmy_mondo_relaxed.owl late congenital syphilis|late congenital syphilis, symptomatic (2 years or more)|juvenile syphilis|juvenile neurosyphilis|late congenital syphilis (2 years or more) EFO:0007339|ICD10:A50.40|ICD9:090.4|SCTID:82323002|ICD9:090.7|ICD10:A50.59|ICD9:090.5|ICD9:090.40|ICD10:A50.5|ICD10:A50.4|DOID:10039 owl:Class MONDO:0013724 biolink:NamedThing bacteremia, susceptibility to, 2 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene. tmpak2llvmy_mondo_relaxed.owl bacteremia, susceptibility caused by mutation in CISH|CISH bacteremia, susceptibility|bacteremia, susceptibility to, type 2|BACTS2|bacteremia, susceptibility to, 2 OMIM:614383 owl:Class MONDO:0000988 biolink:NamedThing discharging ear Discharge or drainage of fluid from the ear. tmpak2llvmy_mondo_relaxed.owl ICD9:388.60|ICD10:H92.1|ICD9:388.6|ICD10:H92.10|DOID:10261 owl:Class MONDO:0016762 biolink:NamedThing microcornea-corectopia-macular hypoplasia syndrome Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. tmpak2llvmy_mondo_relaxed.owl microcornea corectopia macular hypoplasia MESH:C537551|ICD10:Q15.8|UMLS:C2931531|GARD:0003636|Orphanet:2535 owl:Class MONDO:0007253 biolink:NamedThing cancer, familial, with in vitro Radioresistance tmpak2llvmy_mondo_relaxed.owl cancer, familial, with in vitro RADIORESISTANCE OMIM:114450|MESH:C566179|UMLS:C1861915 owl:Class MONDO:0020465 biolink:NamedThing congenital eyelid retraction Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. tmpak2llvmy_mondo_relaxed.owl Orphanet:99176|ICD10:Q10.3|SCTID:715769008 Editor note: check ORDO classification owl:Class MONDO:0009076 biolink:NamedThing autosomal recessive nonsyndromic deafness 1A An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. tmpak2llvmy_mondo_relaxed.owl deafness nonsyndromic, connexin 26 linked|GJB2-related deafness|autosomal recessive nonsyndromic deafness type 1A|DFNB1|deafness, autosomal recessive 1A|DFNB1A|deafness, digenic, Gjb2/Gjb6|autosomal recessive deafness 1A|connexin 26 deafness|deafness, autosomal recessive type 1A|deafness, digenic, Gjb2/Gjb3|autosomal recessive nonsyndromic deafness 1A ICD10:H90.3|DOID:0110475|OMIM:220290|NCIT:C129022|MESH:C567134|GARD:0001697 https://rarediseases.info.nih.gov/diseases/1697/dfnb1 owl:Class MONDO:0013094 biolink:NamedThing glioma susceptibility 5 tmpak2llvmy_mondo_relaxed.owl glioma susceptibility 5|GLM5 OMIM:613030 owl:Class MONDO:0011040 biolink:NamedThing spinal dysplasia, Anhalt type tmpak2llvmy_mondo_relaxed.owl spinal dysplasia, Anhalt type MESH:C563348|OMIM:601344|UMLS:C1832464 owl:Class MONDO:0008559 biolink:NamedThing thrombophilia due to thrombin defect The formation of a blood clot (thrombus) in the lumen of a vein. tmpak2llvmy_mondo_relaxed.owl prothrombin thrombophilia|prothrombin G20210A thrombophilia|prothrombin 20210G>A thrombophilia|hyperprothrombinemia|venous thrombosis|THPH1|thrombophilia due to thrombin defect|thrombophilia due to Factor 2 defect|Venous thromboembolism|prothrombin-related thrombophilia|factor II-related thrombophilia|thrombosis, protection against GARD:0010815|OMIM:188050|SCTID:111293003|ICD9:453.9 owl:Class MONDO:0018435 biolink:NamedThing acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. tmpak2llvmy_mondo_relaxed.owl acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2) GARD:0012759|Orphanet:402020|ICD10:C92.0 https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 owl:Class MONDO:0043355 biolink:NamedThing collagenous gastritis A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis. tmpak2llvmy_mondo_relaxed.owl collagenous gastritis GARD:0010961|NCIT:C122082|UMLS:C4040043|SCTID:711499009 owl:Class HGNC:20473 biolink:NamedThing BRIP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017558 biolink:NamedThing congenital elbow dislocation, unilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q68.8|Orphanet:295225 owl:Class MONDO:0007206 biolink:NamedThing bone pain, periodic tmpak2llvmy_mondo_relaxed.owl bone pain, periodic OMIM:112270 owl:Class MONDO:0012010 biolink:NamedThing coronary heart disease, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl coronary heart disease, susceptibility to, type 4|Chds4|coronary heart disease, susceptibility to, 4 OMIM:608318|UMLS:C1842258 owl:Class MONDO:0007360 biolink:NamedThing branchiootic syndrome 2 tmpak2llvmy_mondo_relaxed.owl bo syndrome 2|branchiootic syndrome type 2|branchiootic syndrome 2 MESH:C565171|UMLS:C1852718|OMIM:120502 owl:Class MONDO:0019310 biolink:NamedThing recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. tmpak2llvmy_mondo_relaxed.owl RDEB-I|dystrophic epidermolysis bullosa inversa|inverse RDEB|inverse recessive dystrophic epidermolysis bullosa Orphanet:79409|UMLS:CN205951|ICD10:Q81.2 owl:Class MONDO:0007633 biolink:NamedThing Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness tmpak2llvmy_mondo_relaxed.owl Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness OMIM:136600|MESH:C564999|UMLS:C1850982 owl:Class MONDO:0004763 biolink:NamedThing carotid artery dissection Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. tmpak2llvmy_mondo_relaxed.owl dissection of carotid artery SCTID:720626009|NCIT:C125662|ICD9:443.21|DOID:9348|UMLS:C0338585|ICD10:I77.71 owl:Class MONDO:0007139 biolink:NamedThing Antipyrine metabolism tmpak2llvmy_mondo_relaxed.owl antipyrine metabolism UMLS:C1862824|OMIM:107290 owl:Class MONDO:0001562 biolink:NamedThing displacement of cardia through esophageal hiatus tmpak2llvmy_mondo_relaxed.owl congenital hiatus hernia ICD10:Q40.1|ICD9:750.6|DOID:12641|SCTID:47028006 owl:Class MONDO:0001947 biolink:NamedThing suppurative thyroiditis Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. tmpak2llvmy_mondo_relaxed.owl suppurative thyroiditis|acute suppurative thyroiditis|infectious thyroiditis|abscess of thyroid DOID:14350|SCTID:25476006|MESH:D013969|UMLS:C0040150|EFO:1001431|NCIT:C129724|ICD10:E06.0 owl:Class MONDO:0012537 biolink:NamedThing split-hand/foot malformation with long bone deficiency 2 tmpak2llvmy_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency 2|SHFLD2 MESH:C565199|UMLS:C1853156|OMIM:610685 owl:Class MONDO:0006993 biolink:NamedThing systolic heart failure Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. tmpak2llvmy_mondo_relaxed.owl ICD9:428.20|MESH:D054143|DOID:9651|ICD10:I50.2|ICD9:428.2|UMLS:C1135191|SCTID:417996009|ICD10:I50.20|MedDRA:10074631|EFO:1001207 owl:Class MONDO:0032892 biolink:NamedThing structural brain anomalies with impaired intellectual development and craniosynostosis tmpak2llvmy_mondo_relaxed.owl STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS|BAIDCS OMIM:618736 owl:Class MONDO:0019560 biolink:NamedThing lupus erythematosus tumidus Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. tmpak2llvmy_mondo_relaxed.owl tumid lupus erythematosus|intermittent cutaneous lupus|let NCIT:C117112|UMLS:C0406636|SCTID:200941006|GARD:0013003|ICD10:L93.2|Orphanet:90283 https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus owl:Class MONDO:0007569 biolink:NamedThing erythema nodosum, familial tmpak2llvmy_mondo_relaxed.owl familial erythema nodosum|erythema nodosum, familial UMLS:C1851503|MESH:C535510|GARD:0009259|OMIM:132990 https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum owl:Class HGNC:7961 biolink:NamedThing NR0B2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004895 biolink:NamedThing accommodative esotropia tmpak2llvmy_mondo_relaxed.owl DOID:9839|UMLS:C0155336|ICD9:378.35|SCTID:419494007|ICD10:H50.43 owl:Class HP:0012234 biolink:NamedThing Agranulocytosis Marked decrease in the number of granulocytes. tmpak2llvmy_mondo_relaxed.owl UMLS:C0702094 Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. peter 2013-03-31T09:42:50Z human_phenotype owl:Class MONDO:0006843 biolink:NamedThing macular holes A hole in the macula of the retina. tmpak2llvmy_mondo_relaxed.owl macular hole DOID:7633|EFO:1001028|SCTID:232006002|UMLS:C0024441|NCIT:C34795 owl:Class MONDO:0016711 biolink:NamedThing desmoplastic/nodular medulloblastoma A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. tmpak2llvmy_mondo_relaxed.owl desmoplastic nodular medulloblastoma|desmoplastic/nodular medulloblastoma|Desmoplastic medulloblastoma|desmoplastic medulloblastoma NCIT:C4956|EFO:0005699|ICDO:9471/3|ONCOTREE:DMBL|ICD10:C71.6|Orphanet:251863|UMLS:C0751291 owl:Class MONDO:0060593 biolink:NamedThing actn3 deficiency tmpak2llvmy_mondo_relaxed.owl sprinting performance|Alpha-actinin-3 deficiency|ACTN3 deficiency OMIM:617749 owl:Class MONDO:0007413 biolink:NamedThing Cyprus facial-neuromusculoskeletal syndrome Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. tmpak2llvmy_mondo_relaxed.owl CYPRUS facial neuromusculoskeletal syndrome|unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects Orphanet:2674|OMIM:123853|UMLS:C1852396|ICD10:Q87.8|SCTID:732261005|MESH:C536229|GARD:0009487 https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome owl:Class MONDO:0001206 biolink:NamedThing aqueous misdirection tmpak2llvmy_mondo_relaxed.owl ICD10:H40.83|DOID:11149|ICD9:365.83 owl:Class MONDO:0007560 biolink:NamedThing reading seizures tmpak2llvmy_mondo_relaxed.owl epilepsy, reading OMIM:132300|Orphanet:166433|UMLS:C0278193|ICD10:G40.8 owl:Class MONDO:0020424 biolink:NamedThing intramural coronary arterial course Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death. tmpak2llvmy_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99088 owl:Class HGNC:26970 biolink:NamedThing COX20 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003892 biolink:NamedThing acinar lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) tmpak2llvmy_mondo_relaxed.owl lung acinar adenocarcinoma|acinar lung adenocarcinoma|acinar adenocarcinoma of the lung|acinar adenocarcinoma of lung DOID:6482|NCIT:C5649|UMLS:C1332137 owl:Class GO:0042578 biolink:NamedThing phosphoric ester hydrolase activity Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010296 biolink:NamedThing immunodeficiency 61 tmpak2llvmy_mondo_relaxed.owl AGMX2|XLA2|agammaglobulinemia, X-linked, type 2|agammaglobulinemia X-linked type 2 MESH:C538057|OMIM:300310|UMLS:C1845903|GARD:0010007 owl:Class HGNC:24624 biolink:NamedThing SIL1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002910 biolink:NamedThing peroneal neuropathy Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) tmpak2llvmy_mondo_relaxed.owl peroneal neuropathy NCIT:C27596|MESH:D020427|DOID:4201|UMLS:C0747533 owl:Class MONDO:0011073 biolink:NamedThing diabetes mellitus, transient neonatal, 1 tmpak2llvmy_mondo_relaxed.owl Dmtn|diabetes mellitus, transient neonatal, 1|diabetes mellitus, transient neonatal, type 1|Tndm1|Tndm MESH:C563322|OMIM:601410|SCTID:609579009 owl:Class MONDO:0040753 biolink:NamedThing inactive tuberculosis tmpak2llvmy_mondo_relaxed.owl inactive tuberculosis|tuberculosis infection latent UMLS:C1609538|SCTID:11999007|MESH:D055985 owl:Class MONDO:0007940 biolink:NamedThing malignant hyperthermia, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl malignant hyperthermia, susceptibility to, type 3|malignant hyperthermia, susceptibility to, 3|malignant hyperthermia susceptibility type 3|MHS3|Mhs3|malignant hyperpyrexia susceptibility type 3 OMIM:154276|GARD:0003365|MESH:C535696 https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 owl:Class MONDO:0008131 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant tmpak2llvmy_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant MESH:C563497|UMLS:C1833831|OMIM:165199 owl:Class MONDO:0033493 biolink:NamedThing fibromatosis, gingival, 5 tmpak2llvmy_mondo_relaxed.owl GINGF5|fibromatosis, gingival, hereditary, 5|GGF5|fibromatosis, gingival, 5|gingival fibromatosis 5 OMIM:617626|DOID:0080280 owl:Class MONDO:0020453 biolink:NamedThing congenital partial pulmonary venous return anomaly Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. tmpak2llvmy_mondo_relaxed.owl Partial anomalous pulmonary Venous return|Partial anomalous pulmonary Venous connection NCIT:C99004|SCTID:68237008|Orphanet:99124|ICD10:Q26.3 owl:Class MONDO:0002511 biolink:NamedThing stenosis of lacrimal sac tmpak2llvmy_mondo_relaxed.owl ICD9:375.54|DOID:3096|ICD10:H04.579|ICD10:H04.57|SCTID:11772001 owl:Class MONDO:0025095 biolink:NamedThing malaria, avian Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. tmpak2llvmy_mondo_relaxed.owl Avian malaria|Malarias, Avian|Avian Malarias MESH:D008289|UMLS:C0024533 owl:Class MONDO:0016687 biolink:NamedThing protoplasmic astrocytoma A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) tmpak2llvmy_mondo_relaxed.owl protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytic tumor|protoplasmic astrocytoma DOID:7008|NCIT:C4320|Orphanet:251598|ICD10:C71.9|ICDO:9410/3|UMLS:C0334580 owl:Class MONDO:0017360 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpak2llvmy_mondo_relaxed.owl complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0 ICD10:E71.1|UMLS:CN203025|Orphanet:289916|SCTID:237945003 owl:Class MONDO:0030346 biolink:NamedThing ciliary dyskinesia, primary, 47, and lissencephaly tmpak2llvmy_mondo_relaxed.owl CILD47|ciliary dyskinesia, primary, 47, and lissencephaly OMIM:619466 owl:Class MONDO:0007238 biolink:NamedThing amastia Absence of one or both mammary glands. tmpak2llvmy_mondo_relaxed.owl athelia|BNAH1|amazia|absent breasts and nipples|complete absence of breasts|breasts and/or nipples, aplasia or hypoplasia of, 1|amastia GARD:0009489|OMIM:113700|MESH:C535565|SCTID:75474006|NCIT:C118459|UMLS:CN033494 https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples owl:Class MONDO:0010374 biolink:NamedThing retinitis pigmentosa 34 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28. tmpak2llvmy_mondo_relaxed.owl RP 34|retinitis pigmentosa type 34|RP34|retinitis pigmentosa 34 GARD:0010390|MESH:C564475|UMLS:C1845104|OMIM:300605|ICD10:H35.5|DOID:0110417 https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34 owl:Class MONDO:0019762 biolink:NamedThing laryngotracheoesophageal cleft type 2 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. tmpak2llvmy_mondo_relaxed.owl LTEC II|LTEC2|laryngo-tracheo-esophageal cleft type 2 UMLS:CN206697|ICD10:Q32.1|Orphanet:93939 owl:Class MONDO:0060555 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 2 tmpak2llvmy_mondo_relaxed.owl congenital NAD deficiency disorder 2|kynureninase deficiency, complete|vertebral, cardiac, renal, and limb defects syndrome 2|VCRL2 OMIM:617661|UMLS:C4540014 owl:Class GO:0016817 biolink:NamedThing hydrolase activity, acting on acid anhydrides Catalysis of the hydrolysis of any acid anhydride. tmpak2llvmy_mondo_relaxed.owl hydrolase activity, acting on acid anhydrides, involved in cellular and subcellular movement owl:Class MONDO:0044330 biolink:NamedThing hyperekplexia 4 Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400). tmpak2llvmy_mondo_relaxed.owl HKPX4|hyperekplexia 4 UMLS:CN248518|OMIM:618011|DOID:0080581 owl:Class MONDO:0100065 biolink:NamedThing TH-deficient infantile parkinsonism and motor delay A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). tmpak2llvmy_mondo_relaxed.owl tyrosine hydroxylase infantile parkinsonism and motor delay 2018-11-10 00:07:39+00:00 owl:Class MONDO:0001361 biolink:NamedThing spontaneous ocular nystagmus Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) tmpak2llvmy_mondo_relaxed.owl searching eye movements|ocular nystagmus|visual deprivation nystagmus DOID:11771|UMLS:C0271384|SCTID:45339001|ICD9:379.53|ICD10:H55.03 owl:Class MONDO:0008100 biolink:NamedThing nipples inverted tmpak2llvmy_mondo_relaxed.owl nipples inverted|Mammillae Invertitae OMIM:163600 owl:Class MONDO:0001495 biolink:NamedThing hematocele of tunica vaginalis testis Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. tmpak2llvmy_mondo_relaxed.owl hematocele|male hematocele UMLS:C1456400|DOID:12332|UMLS:C0018931|SCTID:66259004|MESH:D006398 owl:Class HGNC:6562 biolink:NamedThing LGALS2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030924 biolink:NamedThing proteasome-associated autoinflammatory syndrome 5 tmpak2llvmy_mondo_relaxed.owl PRAAS5|proteasome-associated autoinflammatory syndrome 5 OMIM:619175 owl:Class MONDO:0032839 biolink:NamedThing noonan syndrome 12 tmpak2llvmy_mondo_relaxed.owl NS12|NOONAN SYNDROME 12 OMIM:618624 owl:Class MONDO:0012133 biolink:NamedThing lateral semicircular canal malformation, familial, with external and middle ear abnormalities tmpak2llvmy_mondo_relaxed.owl lateral semicircular canal malformation, familial, with external and middle ear abnormalities OMIM:608814|GARD:0010067|UMLS:C1837314|MESH:C537879 https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities owl:Class HGNC:33425 biolink:NamedThing MIAT tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0056821 biolink:NamedThing bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. tmpak2llvmy_mondo_relaxed.owl BOOP|COP|organizing pneumonia|cryptogenic organizing pneumonia|constrictive bronchiolitis|organized pneumonia SCTID:68409003|GARD:0005961 owl:Class HGNC:11005 biolink:NamedThing SLC2A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0023670 biolink:NamedThing Bardet-Biedl syndrome 20 tmpak2llvmy_mondo_relaxed.owl BBS20 OMIM:619471 owl:Class MONDO:0011678 biolink:NamedThing homozygous 11P15-p14 deletion syndrome tmpak2llvmy_mondo_relaxed.owl homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness MESH:C564701|UMLS:C1847866|OMIM:606528 owl:Class NCBITaxon:2732004 biolink:NamedThing Varidnaviria tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010244 biolink:NamedThing CGF1 tmpak2llvmy_mondo_relaxed.owl social cognition|cognitive function 1, social|CGF1 OMIM:300082|UMLS:C1848140 owl:Class HGNC:11934 biolink:NamedThing TNFSF4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10628 biolink:NamedThing CCL3L1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007955 biolink:NamedThing Meckel diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. tmpak2llvmy_mondo_relaxed.owl persistent vitelline duct|Meckel diverticulum|Meckel's diverticulum ICD10:Q43.0|ICD9:751.0|OMIM:155140|EFO:1001036|MESH:D008467|MedDRA:10027055|NCIT:C12264|SCTID:37373007|DOID:9487 owl:Class MONDO:0007320 biolink:NamedThing chondrocalcinosis due to apatite crystal deposition tmpak2llvmy_mondo_relaxed.owl familial apatite disease|chondrocalcinosis due to apatite crystal deposition GARD:0010139|MESH:C535939|UMLS:C1861580|OMIM:118610 https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition owl:Class MONDO:0006641 biolink:NamedThing afferent loop syndrome A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. tmpak2llvmy_mondo_relaxed.owl DOID:8438|EFO:1000799|MedDRA:10056245|UMLS:C0001727|ICD9:537.89|MESH:D000343|SCTID:20813000 owl:Class MONDO:0031002 biolink:NamedThing Baralle-Macken syndrome tmpak2llvmy_mondo_relaxed.owl neurodevelopmental disorder with cataracts and variable microcephaly|BARMACS OMIM:619255 owl:Class MONDO:0017239 biolink:NamedThing familial progressive hyper- and hypopigmentation Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. tmpak2llvmy_mondo_relaxed.owl FPHH ICD10:L81.8|Orphanet:280628 owl:Class MONDO:0015844 biolink:NamedThing agenesis and aplasia of uterine body tmpak2llvmy_mondo_relaxed.owl ICD10:Q51.0|Orphanet:180142 owl:Class MONDO:0008236 biolink:NamedThing phlebectasia of lips tmpak2llvmy_mondo_relaxed.owl phlebectasia of lips OMIM:171450|UMLS:C1868391|MESH:C566806 owl:Class MONDO:0001855 biolink:NamedThing rubeosis iridis tmpak2llvmy_mondo_relaxed.owl ICD10:H21.1|DOID:14000|SCTID:51995000|ICD9:364.42|UMLS:C0154916 owl:Class MONDO:0015812 biolink:NamedThing primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. tmpak2llvmy_mondo_relaxed.owl ICD10:C84.4|Orphanet:178533 owl:Class MONDO:0033311 biolink:NamedThing Joubert syndrome 33 tmpak2llvmy_mondo_relaxed.owl Joubert syndrome 33|JBTS33 DOID:0080279|OMIM:617767|UMLS:CN601375 owl:Class SO:0000803 biolink:NamedThing assortment_derived_aneuploid A multi-chromosome aberration generated by reassortment of other aberration components; presumed to have a deficiency or a duplication. tmpak2llvmy_mondo_relaxed.owl assortment derived aneuploid owl:Class SO:0001504 biolink:NamedThing assortment_derived_variation A chromosome variation derived from an event during meiosis. tmpak2llvmy_mondo_relaxed.owl assortment derived variation owl:Class OBO:MFOMD_0000143 biolink:NamedThing major depressive episode The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad. DSM-IV-TR (american Psychiatric Association) tmpak2llvmy_mondo_relaxed.owl The individuals must also experience at least four additional symptoms drawn from a list that includes changes in appetite or weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. DSM-IV-TR (american Psychiatric Association) owl:Class MONDO:0002684 biolink:NamedThing atypical choroid plexus papilloma A choroid plexus papilloma characterized by increased mitotic activity. tmpak2llvmy_mondo_relaxed.owl atypical choroid plexus papilloma (morphologic abnormality)|atypical CPP|atypical choroid plexus papilloma|ACPP|atypical papilloma of choroid plexus DOID:3544|Orphanet:251902|ICDO:9390/1|NCIT:C53686|ICD10:C71.5|UMLS:C1266176|ONCOTREE:ACPP owl:Class MONDO:0009196 biolink:NamedThing ermine phenotype Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. tmpak2llvmy_mondo_relaxed.owl black locks, oculocutaneous albinism, and deafness of the sensorineural type|pigmentary disorder with hearing loss|O'Doherty syndrome|BADS syndrome|ermine phenotype|BADS|black locks with albinism and deafness syndrome GARD:0000407|MESH:C535508|ICD10:E70.3|MESH:C562663|ICD9:270.2|OMIM:227010|MEDGEN:82812|SCTID:10170007|UMLS:C1856899|Orphanet:999|UMLS:C0268501 https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype owl:Class HGNC:1190 biolink:NamedThing NPAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030065 biolink:NamedThing agenesis of corpus callosum, cardiac, ocular, and genital syndrome tmpak2llvmy_mondo_relaxed.owl agenesis of corpus callosum, cardiac, ocular, and genital syndrome|AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME|ACOGS OMIM:618929 owl:Class MONDO:0001850 biolink:NamedThing female breast lower-outer quadrant cancer tmpak2llvmy_mondo_relaxed.owl malignant neoplasm of lower-outer quadrant of female breast DOID:13972|ICD9:174.5|SCTID:188155002|ICD10:C50.51|UMLS:C0153553 owl:Class MONDO:0016284 biolink:NamedThing primitive neuroectodermal tumor of the cervix uteri Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. tmpak2llvmy_mondo_relaxed.owl malignant peripheral neuroectodermal tumor of the cervix uteri|cervical malignant peripheral neuroectodermal tumor|peripheral neuroectodermal cancer of cervix uteri|cervical peripheral neuroectodermal cancer UMLS:CN201074|Orphanet:213812|ICD10:C53.8|ICD10:C53.1|ICD10:C53.0 owl:Class MONDO:0033374 biolink:NamedThing developmental and epileptic encephalopathy, 65 tmpak2llvmy_mondo_relaxed.owl DEE65|EIEE65|epileptic encephalopathy, early infantile, 65 OMIM:618008|UMLS:CN248516|DOID:0080430 owl:Class MONDO:0001656 biolink:NamedThing megaesophagus An abnormal dilation of the esophagus not due to obstruction. tmpak2llvmy_mondo_relaxed.owl DOID:13186|UMLS:C0025164|SCTID:70667005|NCIT:C34811 owl:Class MONDO:0010901 biolink:NamedThing HEC syndrome HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. tmpak2llvmy_mondo_relaxed.owl HEC syndrome|hydrocephalus, endocardial fibroelastosis, and cataracts|hydrocephalus-endocardial fibroelastosis-cataract syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts ICD10:Q87.8|MESH:C535855|OMIM:600559|Orphanet:2119|GARD:0002620|SCTID:721015008|UMLS:C1833607 Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome owl:Class HGNC:6458 biolink:NamedThing KRT81 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010599 biolink:NamedThing granulomas, congenital cerebral tmpak2llvmy_mondo_relaxed.owl granulomas, congenital cerebral|congenital cerebral granulomas UMLS:C1844406|MESH:C537294|OMIM:306300|GARD:0008368 https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral owl:Class MONDO:0011065 biolink:NamedThing Hunter-McAlpine craniosynostosis Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). tmpak2llvmy_mondo_relaxed.owl Hunter-McAlpine syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature|Hunter-McAlpine craniosynostosis syndrome OMIM:601379|SCTID:721227001|Orphanet:97340|MESH:C536072|ICD10:Q87.0|GARD:0002754|UMLS:C1832408 owl:Class MONDO:0004604 biolink:NamedThing Hodgkin's lymphoma, lymphocytic-histiocytic predominance A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl lymphocyte rich Hodgkin lymphoma|lymphocyte rich classical Hodgkin's lymphoma|Hodgkin's disease, lymphocyte predominance [obs]|lymphocyte rich Hodgkin's disease|lymphocyte-rich classical Hodgkin's lymphoma|LRCHL|classic Hodgkin lymphoma, lymphocyte-rich type|lymphocyte rich classical Hodgkin lymphoma|lymphocyte-rich Classic Hodgkin lymphoma|lymphocyte rich classical Hodgkin's disease|lymphocyte rich Hodgkin's lymphoma|Hodgkin lymphoma, lymphocyte-rich|Hodgkin's disease, lymphocyte predominance|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte-rich classical Hodgkin lymphoma SCTID:118607005|ICD9:201.4|MedDRA:10020231|Orphanet:98845|ICD10:C81.4|ICDO:9651/3|ONCOTREE:LRCHL|NCIT:C6913|DOID:8543 owl:Class NCBITaxon:55746 biolink:NamedThing Panagrolaimoidea tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011941 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to, type 1|MTBS1|mycobacterium tuberculosis, susceptibility to, 1 OMIM:607949 owl:Class NCBITaxon:1678143 biolink:NamedThing Orthohepevirus A tmpak2llvmy_mondo_relaxed.owl HEV|Hepatitis E virus HEV|Hepatitis E virus GC_ID:1 NCBITaxon:12461 ncbi_taxonomy owl:Class MONDO:0010891 biolink:NamedThing lethal hemolytic anemia-genital anomalies syndrome Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin. tmpak2llvmy_mondo_relaxed.owl hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|water-West syndrome OMIM:600461|GARD:0002642|Orphanet:1046|ICD10:D58.8|MESH:C563935|UMLS:C1838120 owl:Class MONDO:0020974 biolink:NamedThing laryngeal granuloma A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. tmpak2llvmy_mondo_relaxed.owl Larynx Granulomas|Granulomas, Laryngeal|laryngeal granuloma|Granuloma, Laryngeal|Laryngeal granuloma|Laryngeal Granuloma|Larynx Granuloma|Granuloma of Larynx|Laryngeal Granulomas ICD9:478.79|SCTID:72211003|MESH:D006102|UMLS:C0018196 owl:Class MONDO:0023664 biolink:NamedThing spermatogenic failure 54 tmpak2llvmy_mondo_relaxed.owl SPGF54 OMIM:619379 owl:Class HGNC:9303 biolink:NamedThing PPP2R1B tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0002017 biolink:NamedThing Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. tmpak2llvmy_mondo_relaxed.owl Nausea and vomiting UMLS:C0027498|SNOMEDCT_US:16932000 human_phenotype owl:Class MONDO:0012468 biolink:NamedThing rhizomelic dysplasia, scoliosis, and retinitis pigmentosa tmpak2llvmy_mondo_relaxed.owl rhizomelic dysplasia, scoliosis, and retinitis pigmentosa OMIM:610319|UMLS:C1853197|GARD:0009968|MESH:C537610 https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa owl:Class CL:0000007 biolink:NamedThing early embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. tmpak2llvmy_mondo_relaxed.owl cell owl:Class MONDO:0100226 biolink:NamedThing parasomnia, sleepwalking type A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%). tmpak2llvmy_mondo_relaxed.owl parasomnia, sleep terrors type|parasomnia, sleepwalking type|sleepwalking disorder|somnambulism|sleep walking|PSMNSW|sleep walking disorder MESH:D013009|OMIM:613938 Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term. https://github.com/monarch-initiative/mondo/issues/2083 owl:Class MONDO:0022613 biolink:NamedThing bruyn scheltens syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001034 https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome owl:Class MONDO:0006531 biolink:NamedThing cholesteatoma of attic A cholesteatoma in the attic tmpak2llvmy_mondo_relaxed.owl SCTID:38708003|UMLS:C0155489|ICD10:H71.0|ICD10:H71.00|ICD9:385.31|EFO:1000676|DOID:10963 owl:Class MONDO:0007323 biolink:NamedThing Chondronectin tmpak2llvmy_mondo_relaxed.owl Chondronectin OMIM:118670 owl:Class MONDO:0007062 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, unilateral Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia). tmpak2llvmy_mondo_relaxed.owl digits 2-5 oligodactyly, unilateral|digits 2-5 hypodactyly, unilateral|Adactyly of hand, unilateral|adactylia, unilateral|adactylia unilateral|terminal transverse defects of hand, unilateral ICD10:Q71.3|Orphanet:973|GARD:0000377|MESH:C562417|OMIM:102650 https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral owl:Class MONDO:0002695 biolink:NamedThing sagittal sinus thrombosis Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma. tmpak2llvmy_mondo_relaxed.owl thrombosis of superior longitudinal sinus|thrombosis of superior sagittal sinus MESH:D020225|SCTID:192760003|UMLS:C0338575|DOID:3576 owl:Class MONDO:0012576 biolink:NamedThing supranuclear palsy, progressive, 3 tmpak2llvmy_mondo_relaxed.owl supranuclear palsy, progressive, 3|PSNP3 UMLS:C1970476|MESH:C567050|OMIM:610898 owl:Class MONDO:0017382 biolink:NamedThing familial clubfoot due to 5q31 microdeletion tmpak2llvmy_mondo_relaxed.owl hereditary clubfoot due to 5q31 microdeletion Orphanet:293144|ICD10:Q66.8|UMLS:CN203109 owl:Class MONDO:0032721 biolink:NamedThing spondyloepiphyseal dysplasia, kondo-fu type tmpak2llvmy_mondo_relaxed.owl SEDKF|Sed With Elevated Blood Lysosomal Enzymes|SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE OMIM:618392 owl:Class MONDO:0032654 biolink:NamedThing hyper-IgE recurrent infection syndrome 3, autosomal recessive tmpak2llvmy_mondo_relaxed.owl HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE|HIES3 DOID:0080595|OMIM:618282 owl:Class MONDO:0022855 biolink:NamedThing congenital vagal hyperreflexivity tmpak2llvmy_mondo_relaxed.owl GARD:0001508 https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity owl:Class MONDO:0002768 biolink:NamedThing true hermaphroditism A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. tmpak2llvmy_mondo_relaxed.owl hermaphroditism|true hermaphroditism|ovotestis NCIT:C85207|DOID:3763|UMLS:C0019269|PATO:0001340|SCTID:237821001 owl:Class MONDO:0017289 biolink:NamedThing fetal lung interstitial tumor tmpak2llvmy_mondo_relaxed.owl flit|immature interstitial mesenchymal tumor Orphanet:284362|UMLS:CN202863 owl:Class MONDO:0009932 biolink:NamedThing pulmonary bullae causing pneumothorax tmpak2llvmy_mondo_relaxed.owl pulmonary bullae causing pneumothorax MESH:C564863|UMLS:C1849566|OMIM:265200 owl:Class MONDO:0014972 biolink:NamedThing chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted. tmpak2llvmy_mondo_relaxed.owl UMLS:C4311046|OMIM:617219 owl:Class HGNC:7470 biolink:NamedThing MT-RNR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013486 biolink:NamedThing spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia with azoospermia and intellectual disability|SCA32|spinocerebellar ataxia 32 Orphanet:276183|OMIM:613909|ICD10:G11.8|UMLS:C4304844|UMLS:C3151343|SCTID:719254001 owl:Class MONDO:0011285 biolink:NamedThing age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. tmpak2llvmy_mondo_relaxed.owl age related maculopathy 1|maculopathy, age-related, 1|macular degeneration, age-related, 1|ARMD1|macular Degeneration, age-related, type 1|age related macular degeneration type 1 DOID:0110014|MESH:C566411|UMLS:C1864205|OMIM:603075 owl:Class MONDO:0019317 biolink:NamedThing follicular atrophoderma-basal cell carcinoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN205972|Orphanet:79459|ICD10:L98.8 owl:Class MONDO:0022913 biolink:NamedThing cutler bass Romshe syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001646 https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome owl:Class HGNC:9826 biolink:NamedThing RAD54L tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7501 biolink:NamedThing MT-TW tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0016825 biolink:NamedThing hydrolase activity, acting on acid phosphorus-nitrogen bonds Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond. tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:14203 biolink:NamedThing JPH3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020714 biolink:NamedThing mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl OMIM:251900 owl:Class MONDO:0001326 biolink:NamedThing dental pulp necrosis Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. tmpak2llvmy_mondo_relaxed.owl necrosis of pulp|pulp necrosis|necrotic pulp|necrosis of the pulp UMLS:C0011407|ICD10:K04.1|MESH:D003790|DOID:11623|ICD9:522.1|SCTID:42711005 owl:Class MONDO:0016772 biolink:NamedThing annular lichen planus Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions. tmpak2llvmy_mondo_relaxed.owl annular LP ICD10:L43.8|GARD:0012674|Orphanet:254424|SCTID:201000006|UMLS:C0406363 https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus owl:Class MONDO:0019326 biolink:NamedThing phakomatosis cesiomarmorata tmpak2llvmy_mondo_relaxed.owl phakomatosis caesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis cesiomarmorata ICD9:759.6|UMLS:CN205985|SCTID:703286006|Orphanet:79484|ICD10:Q85.8 owl:Class MONDO:0032911 biolink:NamedThing deafness, autosomal dominant 75 tmpak2llvmy_mondo_relaxed.owl DFNA75|DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM:618778 owl:Class MONDO:0004874 biolink:NamedThing ganglion or cyst of synovium/tendon/bursa tmpak2llvmy_mondo_relaxed.owl DOID:9754|ICD9:727.49 owl:Class MONDO:0011352 biolink:NamedThing neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia tmpak2llvmy_mondo_relaxed.owl neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia UMLS:C1863649|OMIM:603641|MESH:C566352 owl:Class MONDO:0009296 biolink:NamedThing glycoprotein storage disease tmpak2llvmy_mondo_relaxed.owl glycoprotein storage disorder|glycoprotein storage disease OMIM:232900|UMLS:C1856275|SCTID:7810004|MESH:C565538|UMLS:C0268220 owl:Class MONDO:0034024 biolink:NamedThing kyphoscoliotic Ehlers-Danlos syndrome A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. tmpak2llvmy_mondo_relaxed.owl kyphoscoliotic EDS|EDS VI Orphanet:536545 owl:Class HGNC:6158 biolink:NamedThing ITGB4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010551 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. tmpak2llvmy_mondo_relaxed.owl CMT3X|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|Charcot-Marie-Tooth disease X-linked recessive type 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|CMTX3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot Marie Tooth disease X-linked recessive 3|CMTX 3 GARD:0001244|MESH:C535303|UMLS:C1844865|SCTID:763458005|DOID:0110211|Orphanet:101077|OMIM:302802|ICD10:G60.0 owl:Class MONDO:0100391 biolink:NamedThing acute myeloid leukemia, t(2;12) Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.) tmpak2llvmy_mondo_relaxed.owl AML, t(2;12) owl:Class MONDO:0007013 biolink:NamedThing vasculogenic impotence Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. tmpak2llvmy_mondo_relaxed.owl EFO:1001234|MESH:D018783|DOID:4762|UMLS:C0243000 owl:Class MONDO:0015166 biolink:NamedThing acute myeloid leukemia with t(8;21)(q22;q22) translocation tmpak2llvmy_mondo_relaxed.owl AML with t(8;21)(q22;q22) translocation ICD10:C92.0|Orphanet:102724 owl:Class HGNC:9864 biolink:NamedThing RARA tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:689831 biolink:NamedThing Spinareovirinae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023659 biolink:NamedThing developmental and epileptic encephalopathy 96 tmpak2llvmy_mondo_relaxed.owl DEE96 OMIM:619340 owl:Class MONDO:0011055 biolink:NamedThing distal monosomy 10p Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. tmpak2llvmy_mondo_relaxed.owl telomeric deletion 10p|DiGeorge syndrome type 2|10p13-p14 Deletion syndrome|chromosome 10p deletion|monosomy 10pter|10p monosomy|partial monosomy 10p|deletion 10p|DiGeorge syndrome/velocardiofacial syndrome Complex type 2|monosomy 10p|distal monosomy type 10p|distal 10p deletion|10p deletion|Dgs2|DiGeorge syndrome/velocardiofacial syndrome complex 2 UMLS:C4304502|UMLS:C1832431|OMIM:601362|NCIT:C130982|GARD:0001323|ICD10:Q93.5|MESH:C563337|SCTID:719686003|Orphanet:1580 owl:Class HGNC:7460 biolink:NamedThing MT-ND4L tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020680 biolink:NamedThing acute bronchiolitis Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. tmpak2llvmy_mondo_relaxed.owl acute capillary bronchiolitis|capillary pneumonia|acute Bronchiolitis|Capillary pneumonia|acute bronchiolitis ICD9:466.19|ICD9:466.1|UMLS:C0001311|SCTID:5505005|NCIT:C39659 owl:Class MONDO:0006986 biolink:NamedThing substernal goiter An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. tmpak2llvmy_mondo_relaxed.owl retrosternal thyroid goiter EFO:1001198|DOID:13200|SCTID:66392007|MESH:D006045|UMLS:C0018024 owl:Class MONDO:0054738 biolink:NamedThing Fraser syndrome 2 tmpak2llvmy_mondo_relaxed.owl FRASRS2|Fraser syndrome 2 UMLS:C4540036|DOID:0111407|OMIM:617666 owl:Class FOODON:03411059 biolink:NamedThing shellfish or crustacean Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish] tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010018 biolink:NamedThing second metatarsal-metacarpal syndrome tmpak2llvmy_mondo_relaxed.owl second metatarsal-metacarpal syndrome UMLS:C1849259|MESH:C564824|OMIM:269630 owl:Class MONDO:0007910 biolink:NamedThing lipoprotein types--Lt system tmpak2llvmy_mondo_relaxed.owl lipoprotein types--Lt system UMLS:C1835359|OMIM:152300 owl:Class MONDO:0011260 biolink:NamedThing pancreatic lymphoma, familial An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl hereditary pancreas lymphoma|pancreatic lymphoma, familial UMLS:C1865139|MESH:C566516|OMIM:602596 owl:Class MONDO:0008235 biolink:NamedThing pheochromocytoma-islet cell tumor syndrome tmpak2llvmy_mondo_relaxed.owl pheochromocytoma-islet cell tumor syndrome|pheochromocytoma and islet cell tumor of the pancreas|pheochromocytoma--islet cell tumor syndrome UMLS:C1868392|MESH:C566807|GARD:0004321|OMIM:171420 https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome owl:Class MONDO:0009321 biolink:NamedThing hallux varus-preaxial polysyndactyly syndrome Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. tmpak2llvmy_mondo_relaxed.owl Kleiner-Holmes syndrome|Kleiner Holmes syndrome|hallux varus and preaxial polysyndactyly MESH:C536885|GARD:0003118|OMIM:234280|ICD10:Q74.2|Orphanet:2110|UMLS:C1856197 owl:Class MONDO:0003446 biolink:NamedThing papillary hidradenoma A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. tmpak2llvmy_mondo_relaxed.owl hidradenoma papilliferum NCIT:C4171|UMLS:C0334348|ICDO:8405/0|SCTID:307597000|DOID:5439 owl:Class MONDO:0100420 biolink:NamedThing acute myeloid leukemia, KIT gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.) tmpak2llvmy_mondo_relaxed.owl AML, C-KIT Mutation|AML, CD117 Gene Mutation|AML, CD117 Mutation|AML, c-KIT Gene Mutation|AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KIT gene mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation owl:Class MONDO:0008616 biolink:NamedThing twinning due to superfetation tmpak2llvmy_mondo_relaxed.owl superfetation twinning|twinning due to superfetation MESH:C566018|OMIM:191250 owl:Class MONDO:0018742 biolink:NamedThing familial gastric type 1 neuroendocrine tumor tmpak2llvmy_mondo_relaxed.owl familial type 1 gNET|hereditary type 1 gNET Orphanet:464756|UMLS:CN242170 Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859 owl:Class MONDO:0002896 biolink:NamedThing primary syphilis The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. tmpak2llvmy_mondo_relaxed.owl early syphilis, symptomatic|symptomatic early syphilis|early symptomatic syphilis ICD9:091|UMLS:C0153139|UMLS:C2931317|NCIT:C128412|SCTID:186846005|DOID:4156|MESH:C536772 owl:Class HP:0000711 biolink:NamedThing Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. tmpak2llvmy_mondo_relaxed.owl Restlessness SNOMEDCT_US:162221009|UMLS:C3887611 human_phenotype owl:Class MONDO:0008078 biolink:NamedThing neurofibromatosis, familial spinal tmpak2llvmy_mondo_relaxed.owl Fsnf|neurofibromatosis, familial spinal UMLS:C1834235|OMIM:162210|MESH:C563523 owl:Class MONDO:0030843 biolink:NamedThing mismatch repair cancer syndrome 4 tmpak2llvmy_mondo_relaxed.owl MMRCS4|mismatch repair cancer syndrome 4 OMIM:619101 owl:Class MONDO:0008614 biolink:NamedThing suppressor of tumorigenicity 3 tmpak2llvmy_mondo_relaxed.owl tumor-suppressor Gene, Hela cell type|ST3|suppressor of tumorigenicity 3|cervical carcinoma, tumor-suppressor Gene involved 1N OMIM:191181|UMLS:C1860658 owl:Class MONDO:0600027 biolink:NamedThing congenital right-sided heart lesions Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth. tmpak2llvmy_mondo_relaxed.owl EFO:0600032 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0006368 biolink:NamedThing phosphaturic mesenchymal tumor An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor. tmpak2llvmy_mondo_relaxed.owl phosphaturic mesenchymal tumor|phosphaturic mesenchymal tumor, mixed connective tissue type|phosphaturic mesenchymal tumor, mixed connective tissue variant NCIT:C67237|EFO:1000473|UMLS:C1831619 owl:Class MONDO:0001086 biolink:NamedThing partial optic atrophy tmpak2llvmy_mondo_relaxed.owl ICD9:377.15|UMLS:C0155295|SCTID:111527005|DOID:10631 owl:Class MONDO:0018610 biolink:NamedThing early-onset posterior subcapsular cataract tmpak2llvmy_mondo_relaxed.owl Orphanet:441447|ICD10:H26.0|UMLS:CN237646 owl:Class MONDO:0012462 biolink:NamedThing autosomal recessive frontotemporal pachygyria tmpak2llvmy_mondo_relaxed.owl pachygyria, frontotemporal Orphanet:329329|OMIM:610279|UMLS:C1853215|GARD:0010003|MESH:C538092|ICD10:Q04.3 owl:Class MONDO:0002789 biolink:NamedThing hemangiopericytic tumor A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. tmpak2llvmy_mondo_relaxed.owl hemangiopericytic neoplasm EFO:1000289|DOID:3850|NCIT:C7076|UMLS:C0476144 Editor note: TODO check relationship to spindle cell tumor owl:Class MONDO:0006540 biolink:NamedThing dyshidrosis A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl cheiropompholyx|vesicular eczema of hands and/or feet|pompholyx|dyshidrosis|DYSHYDROTIC eczema EFO:1000688|DOID:9230|MESH:D011146|SCTID:402567004|Wikipedia:Dyshidrosis|UMLS:C0032633|ICD9:705.81|ICD9:692.9 owl:Class MONDO:0004493 biolink:NamedThing testicular yolk sac tumor, papillary pattern A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. tmpak2llvmy_mondo_relaxed.owl papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern DOID:8193|NCIT:C39928|UMLS:C1515310 owl:Class HGNC:6487 biolink:NamedThing LAMB2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017245 biolink:NamedThing intralobar congenital pulmonary sequestration tmpak2llvmy_mondo_relaxed.owl intralobar congenital bronchopulmonary sequestration|congenital intrapulmonary sequestration ICD10:Q33.2|Orphanet:280802 owl:Class MONDO:0016607 biolink:NamedThing odontohypophosphatasia Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. tmpak2llvmy_mondo_relaxed.owl SCTID:708672004|NCIT:C131309|UMLS:C1840322|Orphanet:247685|ICD10:E83.3 owl:Class MONDO:0011961 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). tmpak2llvmy_mondo_relaxed.owl HSAN1B|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|neuropathy, hereditary sensory, type 1B|HSAN with cough and gastroesophageal reflux|neuropathy, hereditary sensory and autonomic, type 1B|hereditary sensory neuropathy type 1B|hereditary sensory neuropathy type IB|hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux ICD10:G60.8|SCTID:717825008|MESH:C564296|DOID:0070148|UMLS:C4303567|OMIM:608088|PMID:12870133|PMID:16311270|UMLS:C1842586|Orphanet:139564 owl:Class MONDO:0012167 biolink:NamedThing atrial fibrillation, familial, 2 tmpak2llvmy_mondo_relaxed.owl ATFB2|atrial fibrillation, familial, 2 OMIM:608988|UMLS:C1837812|MESH:C563903 owl:Class MONDO:0006044 biolink:NamedThing nephrosclerosis Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. tmpak2llvmy_mondo_relaxed.owl renal sclerosis GARD:0007179|MESH:D009400|DOID:11664|EFO:1000041|SCTID:32916005|ICD10:N26.9|ICD10:I12|UMLS:C0027719|ICD9:587 https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis owl:Class MONDO:0006944 biolink:NamedThing renal aminoaciduria A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. tmpak2llvmy_mondo_relaxed.owl EFO:1001149|MESH:D000608|MedDRA:10001939|SCTID:35912001 owl:Class MONDO:0008081 biolink:NamedThing neurofibromatosis, type IV, of Riccardi tmpak2llvmy_mondo_relaxed.owl neurofibromatosis, type IV, of RICCARDI|neurofibromatosis type IV|neurofibromatosis type 4|neurofibromatosis, variant form(S) of|neurofibromatosis, atypical|neurofibromatosis, type IV, of Riccardi|type IV neurofibromatosis of Riccardi|NF4|Nf 4 MESH:C537392|OMIM:162270 owl:Class MONDO:0012283 biolink:NamedThing cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss tmpak2llvmy_mondo_relaxed.owl cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss UMLS:C1836120|OMIM:609466|MESH:C536427|GARD:0010063 https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss owl:Class MONDO:0016523 biolink:NamedThing bronchogenic cyst Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. tmpak2llvmy_mondo_relaxed.owl bronchogenic cyst (disease)|bronchogenic cyst bronchogenic cyst (disease) MESH:D001994|MedDRA:10064585|HP:0100730|ICD10:J98.4|Orphanet:2357|GARD:0001025 owl:Class MONDO:0000967 biolink:NamedThing conventional lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. tmpak2llvmy_mondo_relaxed.owl conventional lipoma|classic type lipoma NCIT:C27530|DOID:10193|UMLS:C1333059 owl:Class MONDO:0010618 biolink:NamedThing familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). tmpak2llvmy_mondo_relaxed.owl parathyroid glands, agenesis of|X-linked hypoparathyroidism|hypoparathyroidism, X-linked|HYPX MESH:C563238|ICD10:E20.8|Orphanet:2239|NCIT:C131079|UMLS:CN201292|OMIM:307700 owl:Class MONDO:0015562 biolink:NamedThing distal monosomy 17q Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). tmpak2llvmy_mondo_relaxed.owl deletion 17q|telomeric deletion 17q|distal 17q deletion|17q deletion|monosomy 17qter|17q monosomy|monosomy 17q|partial monosomy 17q|distal monosomy type 17q|chromosome 17q deletion ICD10:Q93.5|SCTID:715365000|GARD:0010972|UMLS:C4275171|Orphanet:1597 owl:Class MONDO:0017051 biolink:NamedThing classic maple syrup urine disease Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. tmpak2llvmy_mondo_relaxed.owl classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic branched-chain 2-ketoacid dehydrogenase deficiency|classic BCKD deficiency|classic maple syrup urine disease|classic branched-chain ketoaciduria|classic MSUD ICD10:E71.0|Orphanet:268145 owl:Class MONDO:0020632 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 3 tmpak2llvmy_mondo_relaxed.owl IECEE3|epileptic encephalopathy, infantile or early childhood, 3 UMLS:CN248521|OMIM:618012 owl:Class MONDO:0018856 biolink:NamedThing lichen amyloidosis Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. tmpak2llvmy_mondo_relaxed.owl lichen amyloidosus|amyloid lichen ICD10:E85.4+|Orphanet:49804|ICD10:L99.0*|SCTID:718105008 owl:Class MONDO:0013813 biolink:NamedThing dystonia 21 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. tmpak2llvmy_mondo_relaxed.owl DYT21|primary dystonia, DYT21 type|dystonia 21|dystonia type 21 Orphanet:306734|ICD10:G24.1|UMLS:C3281236|DOID:0090046|OMIM:614588 owl:Class MONDO:0019654 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpak2llvmy_mondo_relaxed.owl Orphanet:93217|UMLS:CN206527|ICD10:N04.8 owl:Class MONDO:0012207 biolink:NamedThing umbilicus, familial flat tmpak2llvmy_mondo_relaxed.owl flat umbilicus familial|umbilicus, familial flat|flat umbilicus autosomal dominant|flat umbilicus, autosomal dominant MESH:C537059|GARD:0009490|OMIM:609164|UMLS:C1836682 https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial owl:Class MONDO:0009199 biolink:NamedThing ethanolaminosis tmpak2llvmy_mondo_relaxed.owl ethanolamine kinase deficiency|ethanolaminosis UMLS:C0268423|SCTID:64235006|OMIM:227150|MESH:C562651|ICD9:270.8 owl:Class MONDO:0016563 biolink:NamedThing progressive supranuclear palsy-corticobasal syndrome PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpak2llvmy_mondo_relaxed.owl PSP-corticobasal syndrome|PSP-CBS ICD10:G23.1|UMLS:CN201681|Orphanet:240103 owl:Class MONDO:0004372 biolink:NamedThing chronic toxic polyneuropathy tmpak2llvmy_mondo_relaxed.owl chronic toxic polyneuropathy UMLS:C1333048|DOID:7825|NCIT:C35603 owl:Class MONDO:0013152 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 14 tmpak2llvmy_mondo_relaxed.owl SLEB14|systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 owl:Class MONDO:0019959 biolink:NamedThing glucagonoma Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. tmpak2llvmy_mondo_relaxed.owl glucagonoma syndrome|pancreatic glucagonoma|glucagonoma NCIT:C95597|SCTID:16424000|GARD:0002496|Orphanet:97280|ICD10:E16.8|UMLS:C0017689|MESH:D005935|MedDRA:10018404|EFO:1000441 owl:Class MONDO:0009644 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type B tmpak2llvmy_mondo_relaxed.owl molybdenum cofactor deficiency, complementation group type B|sulfite oxidase deficiency due to molybdenum cofactor deficiency type B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency complementation group B|MOCOD type B|molybdenum cofactor deficiency, complementation group B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|MOCODB PMID:10053004|DOID:0111163|MESH:C565373|Orphanet:308393|ICD10:E72.1|OMIM:252160|UMLS:C1854989 owl:Class MONDO:0015296 biolink:NamedThing cardiac anomalies-heterotaxy syndrome Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. tmpak2llvmy_mondo_relaxed.owl UMLS:CN199246|ICD10:Q28.8|Orphanet:137628 owl:Class MONDO:0100415 biolink:NamedThing acute myeloid leukemia, FLT3 internal tandem duplication Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.) tmpak2llvmy_mondo_relaxed.owl AML, FLT3 ITD|AML, FLT3-ITD Mutation|AML, Activating FLT3-ITD Mutation|AML, FLT3-ITD|AML, Activating FLT3-ITD Gene Mutation|AML, FLT3/ITD Mutation|AML, FLT3 internal tandem duplication|AML, FLT3-ITD Activating Mutation NCIT:C126748 owl:Class HGNC:30521 biolink:NamedThing SLC46A1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0000883 biolink:NamedThing myeloid neoplasms associated with PDGFRB rearrangement Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia. tmpak2llvmy_mondo_relaxed.owl myeloid/lymphoid neoplasms with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid neoplasms with PDGFRB rearrangement 2021-01-01 NCIT:C84276|ONCOTREE:MLNPDGFRB|UMLS:C2827361|DOID:0080166|ICDO:9966/3 Reason: duplicate. This will be merged with MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement owl:Class MONDO:0024171 biolink:NamedThing radio-digito-facial dysplasia tmpak2llvmy_mondo_relaxed.owl Van Goethem syndrome GARD:0004629 owl:Class MONDO:0015237 biolink:NamedThing arrhinia Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. tmpak2llvmy_mondo_relaxed.owl isolated nose agenesis|isolated arrhinia|Nose agenesis|congenital absence of the nose|Nose agenesia ICD9:748.1|SCTID:111317000|MESH:C537438|Orphanet:1134|GARD:0000364|ICD10:Q30.1 https://rarediseases.info.nih.gov/diseases/364/arrhinia owl:Class MONDO:0013995 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 3 tmpak2llvmy_mondo_relaxed.owl ICP3|cholestasis, intrahepatic, of pregnancy 3|cholestasis, intrahepatic, of pregnancy type 3 DOID:0070229|OMIM:614972|EFO:0009150|UMLS:C3554241 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0060533 biolink:NamedThing microcephaly, short stature, and limb abnormalities tmpak2llvmy_mondo_relaxed.owl MISSLA|microcephaly, short stature, and limb abnormalities OMIM:617604|UMLS:C4539873 owl:Class MONDO:0018987 biolink:NamedThing granulomatous mastitis A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives. tmpak2llvmy_mondo_relaxed.owl idiopathic granulomatous mastitis|idiopathic granulomatous lobular mastitis|granulomatous lobular mastitis ICD10:N61|MESH:D058890|UMLS:C0405469|SCTID:237444008|GARD:0013119|Orphanet:64722 owl:Class MONDO:0042979 biolink:NamedThing hypokalemic periodic paralysis, type 1 tmpak2llvmy_mondo_relaxed.owl hypokalemic periodic paralysis, type 1|HOKPP1 UMLS:C3714580|OMIM:170400 owl:Class MONDO:0019763 biolink:NamedThing laryngotracheoesophageal cleft type 3 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. tmpak2llvmy_mondo_relaxed.owl laryngo-tracheo-esophageal cleft type 3|LTEC3|LTEC III UMLS:CN206698|ICD10:Q32.1|Orphanet:93940 owl:Class HGNC:13672 biolink:NamedThing KLF13 tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0001997 biolink:NamedThing Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. tmpak2llvmy_mondo_relaxed.owl Gouty arthritis SNOMEDCT_US:48440001|SNOMEDCT_US:170733007|UMLS:C0003868|MSH:D006073|SNOMEDCT_US:90560007|UMLS:C0018099|MSH:D015210|SNOMEDCT_US:190828008 HP:0001368 human_phenotype owl:Class MONDO:0018005 biolink:NamedThing spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. tmpak2llvmy_mondo_relaxed.owl Orphanet:329475|UMLS:CN204217|ICD10:G11.4 owl:Class CHEBI:76837 biolink:NamedThing EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*). tmpak2llvmy_mondo_relaxed.owl EC 1.13.11.* inhibitor|EC 1.13.11.* inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors owl:Class MONDO:0018473 biolink:NamedThing hyperlipoproteinemia type 3 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. tmpak2llvmy_mondo_relaxed.owl dysbetalipoproteinemia|familial hypercholesterolaemia with hyperlipaemia|carbohydrate induced hyperlipemia|dysbetalipoproteinemia due to defect in apolipoprotein E-D|Broad beta disease|apolipoprotein E, deficiency or defect of|hyperlipoproteinemia type III|familial Hyperbeta- and Prebetalipoproteinemia|HLP type 3|familial hyperlipoproteinemia type 3|remnant hyperlipidemia|familial hypercholesterolemia with hyperlipemia|low density lipoprotein cholesterol level quantitative trait locus 5|coronary artery disease, Severe, Susceptibility to|familial dysbetalipoproteinemia|familial type 3 hyperlipoproteinemia|dyslipidemia type 3|hyperlipoproteinemia, type III|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|Broad-betalipoproteinemia|remnant disease|remnant removal disease|floating-betalipoproteinemia|hyperlipidemia type 3 UMLS:C1862561|UMLS:C0020479|ICD10:E78.2|MedDRA:10060751|DOID:3145|GARD:0006703|OMIM:617347|Orphanet:412|SCTID:398796005 owl:Class MONDO:0007088 biolink:NamedThing Alzheimer disease type 1 tmpak2llvmy_mondo_relaxed.owl Alzheimer disease, protection against|Alzheimer disease, early-onset, with cerebral amyloid angiopathy|early-onset familial form of Alzheimer disease|AD1|AD|presenile and senile dementia|Alzheimer disease, familial, 1|Alzheimer disease|Alzheimer disease 1 OMIM:104300|DOID:0080348|GARD:0009465|UMLS:C2931257 https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1 owl:Class HGNC:4456 biolink:NamedThing GPD2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0002669 biolink:NamedThing ampullary signet ring cell adenocarcinoma An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells. tmpak2llvmy_mondo_relaxed.owl ampullary signet ring cell carcinoma|ampulla of Vater signet Ring cell carcinoma|ampullary signet Ring cell carcinoma DOID:3501|UMLS:C1332249|NCIT:C6656 owl:Class MONDO:0010805 biolink:NamedThing bladder exstrophy Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. tmpak2llvmy_mondo_relaxed.owl classic exstrophy of the bladder|bladder exstrophy and epispadias Complex|bladder exstrophy|bladder exstrophy (disease)|exstrophy of bladder|ectopia vesicae|exstrophy of the bladder bladder exstrophy (disease) GARD:0006398|ICD10:Q64.1|DOID:0080174|OMIM:600057|ICD9:753.5|HP:0002836|SCTID:61758007|NCIT:C123207|Orphanet:93930|UMLS:C0005689 owl:Class MONDO:0010930 biolink:NamedThing anophthalmia plus syndrome Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. tmpak2llvmy_mondo_relaxed.owl Fryns microphthalmia syndrome|Fryns anophthalmia syndrome|Leichtman Wood Rohn syndrome|microphthalmia with facial clefting|anophthalmia-plus syndrome|anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder SCTID:720496006|UMLS:C1833339|Orphanet:1104|MESH:C537767|ICD10:Q87.8|GARD:0000719|OMIM:600776 https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome owl:Class FOODON:03430150 biolink:NamedThing whole, natural shape tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016091 biolink:NamedThing adult Krabbe disease A Krabbe disease that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl Krabbe disease of adults UMLS:CN200856|Orphanet:206448|ICD10:E75.2 owl:Class MONDO:0011056 biolink:NamedThing Wilms tumor 4 tmpak2llvmy_mondo_relaxed.owl familial Wilms tumor 1|Wilms tumor type 4|WT4|Wilms tumor 4 OMIM:601363|MESH:C563336|UMLS:C1832426 owl:Class MONDO:0006996 biolink:NamedThing thyroid crisis Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. tmpak2llvmy_mondo_relaxed.owl thyroid crisis|thyroid storm|thyroid crisis (disease)|thyrotoxic crisis thyroid crisis (disease) ICD10:E05.5|NCIT:C112836|EFO:1001212|HP:0011782|ICD9:242.81|UMLS:C0040127|MedDRA:10043705|DOID:12837|ICD9:242.91|SCTID:29028009|MESH:D013958 owl:Class MONDO:0015164 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). tmpak2llvmy_mondo_relaxed.owl AML and myelodysplastic syndromes related to alkylating agent UMLS:CN197504|Orphanet:102379|ICD10:C92.8 owl:Class NCBITaxon:400053 biolink:NamedThing Sylvaemus group tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023030 biolink:NamedThing dysmorphism cleft palate loose skin tmpak2llvmy_mondo_relaxed.owl GARD:0002009 https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin owl:Class MONDO:0015421 biolink:NamedThing orofaciodigital syndrome type 12 Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. tmpak2llvmy_mondo_relaxed.owl OFD12|Moran-Barroso syndrome|oral facial digital syndrome type 12|oral-facial-digital syndrome 12|OFDS 12|oral facial digital syndrome 12|orofaciodigital syndrome 12|orofaciodigital syndrome XII|oral-facial-digital syndrome type 12 MESH:C548034|UMLS:C2932679|SCTID:763834000|GARD:0010693|Orphanet:141327|ICD10:Q87.0 owl:Class MONDO:0008857 biolink:NamedThing Beemer-Ertbruggen syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. tmpak2llvmy_mondo_relaxed.owl peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|hydrocephalus, cardiac malformation, dense bones, etc|lethal hydrocephalus-cardiac malformation-dense bones syndrome|Beemer Ertbruggen syndrome|hydrocephalus, Cardiac malformation, dense bones, etc.|Beemer lethal malformation syndrome SCTID:717859007|GARD:0000846|Orphanet:1237|MESH:C537668|ICD10:Q87.8|OMIM:209970|UMLS:C1859526 https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome owl:Class MONDO:0001801 biolink:NamedThing staphyloma posticum tmpak2llvmy_mondo_relaxed.owl SCTID:87819007|DOID:13789|ICD10:H15.83|UMLS:C0155360|ICD9:379.12 owl:Class MONDO:0002189 biolink:NamedThing nodular hidradenoma A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. tmpak2llvmy_mondo_relaxed.owl nodular hidradenoma|solid and cystic hidradenoma|eccrine nodular hidradenoma SCTID:253020008|DOID:2061|NCIT:C7568|ICDO:8402/0 owl:Class MONDO:0012493 biolink:NamedThing restless legs syndrome, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl restless legs syndrome, susceptibility to, 4|RLS 4|RLS4 OMIM:610439|GARD:0010271 owl:Class MONDO:0004049 biolink:NamedThing combat disorder Neurotic reactions to unusual, severe, or overwhelming military stress. tmpak2llvmy_mondo_relaxed.owl shell shock|disorder, combat stress|shell Shocks|combat disorder|combat neuroses|neurosis, war|neuroses, war|Shocks, shell|neuroses, combat|combat stress disorder|shock, shell|disorders, combat stress|neurosis, combat|disorders, combat|disorder, combat|combat neurosis|combat stress disorders|stress disorders, combat|stress disorder, combat|war neuroses|war neurosis SCTID:279611005|DOID:6950|MESH:D003130 owl:Class MONDO:0003763 biolink:NamedThing acute stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. tmpak2llvmy_mondo_relaxed.owl traumatic stress disorder|acute stress reaction NCIT:C92621|DOID:6088|EFO:0005223|Wikipedia:Acute_stress_reaction|ICD9:308.9|MESH:D000068099|ICD9:308.3|ICD10:F43.0|SCTID:67195008 owl:Class MONDO:0008524 biolink:NamedThing syringomas, multiple tmpak2llvmy_mondo_relaxed.owl syringomas, multiple OMIM:186600|UMLS:C1861302|MESH:C566085 owl:Class MONDO:0008312 biolink:NamedThing autosomal dominant prognathism Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). tmpak2llvmy_mondo_relaxed.owl prognathism, mandibular|'Habsburg jaw'|prognathism mandibular|Hapsburg jaw|'Hapsburg jaw'|Habsburg jaw OMIM:176700|UMLS:CN203311|Orphanet:2964|ICD10:K07.1|GARD:0010319|MESH:D008313 owl:Class MONDO:0032660 biolink:NamedThing spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant tmpak2llvmy_mondo_relaxed.owl SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT|SMALED2B OMIM:618291|DOID:0070350 owl:Class MONDO:0016547 biolink:NamedThing Beckwith-Wiedemann syndrome due to NSD1 mutation tmpak2llvmy_mondo_relaxed.owl UMLS:CN201629|ICD10:Q87.3|Orphanet:238613 owl:Class MONDO:0010997 biolink:NamedThing supranuclear palsy, progressive, 1 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. tmpak2llvmy_mondo_relaxed.owl supranuclear palsy, progressive, 1|classic progressive supranuclear palsy syndrome|PSP|PSNP1|classic PSP syndrome|Steele-Richardson-Olszewski disease|Richardson syndrome|supranuclear palsy, progressive, type 1|Steele-Richardson-Olszewski syndrome Orphanet:240071|ICD10:G23.1|OMIM:601104|UMLS:CN201679 owl:Class MONDO:0024262 biolink:NamedThing massive neonatal aspiration syndrome tmpak2llvmy_mondo_relaxed.owl SCTID:10269001 owl:Class MONDO:0017053 biolink:NamedThing intermittent maple syrup urine disease Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. tmpak2llvmy_mondo_relaxed.owl intermittent MSUD|intermittent maple syrup urine disease|intermittent BCKD deficiency|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency Orphanet:268173|ICD10:E71.0|SCTID:405288003 owl:Class MONDO:0006679 biolink:NamedThing bladder neck obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. tmpak2llvmy_mondo_relaxed.owl obstruction of bladder neck or vesicourethral orifice ICD10:N32.0|EFO:1000840|DOID:13948|UMLS:C0005694|SCTID:399072004|ICD9:596.0|MESH:D001748|MedDRA:10005053 owl:Class HGNC:17761 biolink:NamedThing TREM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0001603 biolink:NamedThing paralytic lagophthalmos tmpak2llvmy_mondo_relaxed.owl paralytic lagophthalmos (disease)|paralytic lagophthalmos paralytic lagophthalmos (disease) DOID:12958|HP:0030003|UMLS:C0155197|ICD9:374.21|ICD10:H02.23 owl:Class MONDO:0011194 biolink:NamedThing Alzheimer disease 5 tmpak2llvmy_mondo_relaxed.owl AD5|Alzheimer's disease 5|Alzheimer disease type 5|Ad5|Alzheimer disease, familial, 5|Alzheimer's disease type 5|Alzheimer disease 5|Alzheimer disease, familial 5 DOID:0110037|UMLS:C1865868|OMIM:602096|MESH:C566578|ICD10:G30 owl:Class MONDO:0017525 biolink:NamedThing polydactyly of a triphalangeal thumb, unilateral tmpak2llvmy_mondo_relaxed.owl unilateral PPD2|preaxial polydactyly type 2, unilateral UMLS:CN203256|ICD10:Q69.1|Orphanet:295148 owl:Class MONDO:0022462 biolink:NamedThing anophthalmia esophageal atresia cryptorchidism A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl GARD:0000716 https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism owl:Class MONDO:0015446 biolink:NamedThing atypical coarctation of aorta Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). tmpak2llvmy_mondo_relaxed.owl coarctation of the abdominal aorta|mid-aortic syndrome|mid-aortic dysplastic syndrome|middle aortic syndrome|Midaortic syndrome SCTID:471268000|UMLS:C3805239|Orphanet:1456|UMLS:C3496579|ICD10:Q25.1 owl:Class HGNC:13723 biolink:NamedThing CTCF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022609 biolink:NamedThing bronchial adenomas/carcinoids childhood tmpak2llvmy_mondo_relaxed.owl bronchial carcinoids GARD:0009313|UMLS:C4013426 https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood owl:Class MONDO:0008084 biolink:NamedThing neuropathy, congenital, with arthrogryposis multiplex tmpak2llvmy_mondo_relaxed.owl congenital non-progressive peripheral neuropathy with arthrogryposis multiplex|neuropathy, congenital, with arthrogryposis multiplex GARD:0010086|MESH:C535714|UMLS:C1834206|OMIM:162370 https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex owl:Class HGNC:7427 biolink:NamedThing MT-CYB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009881 biolink:NamedThing pituitary dwarfism with large sella turcica tmpak2llvmy_mondo_relaxed.owl pituitary dwarfism with large sella turcica GARD:0010607|UMLS:C0271575|ICD9:253.8|OMIM:262710|MESH:C562705|SCTID:27270004 https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica owl:Class MONDO:0022308 biolink:NamedThing corticobasal degeneration disorder A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. tmpak2llvmy_mondo_relaxed.owl cortical-basal ganglionic degeneration|corticodentatonigral degeneration with neuronal achromasia|corticobasal syndrome|cortical basal ganglionic degeneration|CBGD|corticobasal degeneration|cortico-basal ganglionic Degeneration (CBGD)|cortical basal ganglionic Degeneration GARD:0000046|NCIT:C129069 https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration owl:Class MONDO:0011992 biolink:NamedThing hereditary spastic paraplegia 25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. tmpak2llvmy_mondo_relaxed.owl autosomal recessive spastic paraplegia type 25|Disc herniation with spastic paraplegia, autosomal recessive|spastic paraplegia 25|hereditary spastic paraplegia type 25|spinal disc herniation with autosomal recessive spastic paraplegia|spastic paraplegia 25, autosomal recessive|autosomal recessive spastic paraplegia-disc herniation syndrome|autosomal recessive spastic paraplegia 25|SPG25 DOID:0110776|ICD10:G11.4|UMLS:C2936860|UMLS:C4518003|MESH:C536861|Orphanet:101005|GARD:0009582|OMIM:608220|SCTID:732933009 owl:Class MONDO:0016676 biolink:NamedThing recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. tmpak2llvmy_mondo_relaxed.owl hyperzincemia and hypercalprotectinemia UMLS:C1860229|Orphanet:251523|ICD10:E83.2 owl:Class MONDO:0015556 biolink:NamedThing nodular urticaria pigmentosa tmpak2llvmy_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158772 owl:Class MONDO:0017063 biolink:NamedThing total spina bifida aperta tmpak2llvmy_mondo_relaxed.owl Orphanet:268377|UMLS:CN202422 owl:Class MONDO:0001745 biolink:NamedThing subserous uterine fibroid tmpak2llvmy_mondo_relaxed.owl subserous leiomyoma of uterus SCTID:95280005|ICD9:218.2|ICD10:D25.2|DOID:13560|UMLS:C0153995 owl:Class HGNC:24592 biolink:NamedThing STEAP3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019731 biolink:NamedThing AApoAI amyloidosis tmpak2llvmy_mondo_relaxed.owl hereditary amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis|familial amyloid nephropathy due to apolipoprotein A-I variant|hereditary renal amyloidosis due to apolipoprotein A-I variant|familial renal amyloidosis due to apolipoprotein A-I variant Orphanet:93560|ICD10:E85.0|UMLS:CN206638 owl:Class MONDO:0005716 biolink:NamedThing contagious pleuropneumonia A pleuropneumonia of cattle and goats caused by species of mycoplasma. tmpak2llvmy_mondo_relaxed.owl EFO:0007221|UMLS:C0032243|MESH:D011002 owl:Class MONDO:0004770 biolink:NamedThing exophthalmos The anterior displacement of the eye within the orbit, giving a bulging appearance. tmpak2llvmy_mondo_relaxed.owl exophthalmos (disease)|proptosis|exophthalmos exophthalmos (disease) MESH:D005094|ICD10:H05.20|HP:0000520|DOID:9370|NCIT:C118763|ICD9:376.30|SCTID:18265008|UMLS:C0015300 owl:Class MONDO:0011605 biolink:NamedThing generalized basaloid follicular hamartoma syndrome Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. tmpak2llvmy_mondo_relaxed.owl basaloid follicular hamartoma syndrome, generalized, autosomal dominant|GBFHS Orphanet:168632|OMIM:605827|MESH:C565284|ICD10:Q82.5|SCTID:766928004|UMLS:C1853919 owl:Class MONDO:0012110 biolink:NamedThing growth delay due to insulin-like growth factor type 1 deficiency Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl insulin-like growth Factor 1 deficiency|growth retardation with sensorineural deafness and intellectual disability|IGF1 deficiency|growth delay-deafness- intellectual disability syndrome|primary insulin-like growth factor deficiency|IGF-1 deficiency|growth retardation with sensorineural deafness and mental retardation|insulin-like growth factor I deficiency MESH:C563867|SCTID:724385009|GARD:0010627|Orphanet:73272|OMIM:608747|ICD10:E34.3|UMLS:C1837475|UMLS:C4518327 owl:Class MONDO:0030841 biolink:NamedThing mismatch repair cancer syndrome 3 tmpak2llvmy_mondo_relaxed.owl mismatch repair cancer syndrome 3|MMRCS3 OMIM:619097 owl:Class MONDO:0019357 biolink:NamedThing congenital narrowing of cervical spinal canal Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. tmpak2llvmy_mondo_relaxed.owl congenital cervical spinal stenosis|congenital stenosis of the cervical spine Orphanet:831|ICD10:Q06.8 owl:Class MONDO:0033363 biolink:NamedThing developmental and epileptic encephalopathy, 54 tmpak2llvmy_mondo_relaxed.owl EIEE54|DEE54|epileptic encephalopathy, early infantile, 54 OMIM:617391|UMLS:C4479319|DOID:0080418 owl:Class HGNC:15465 biolink:NamedThing GPHN tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0044690 biolink:NamedThing optic perineuritis tmpak2llvmy_mondo_relaxed.owl OPN UMLS:C4076165|Orphanet:499107|SCTID:713417000 owl:Class HGNC:3025 biolink:NamedThing DRD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003084 biolink:NamedThing uremic neuropathy Neuropathy resulting from uremia. tmpak2llvmy_mondo_relaxed.owl DOID:4675|SCTID:11659006|NCIT:C27055|UMLS:C0268708|ICD9:357.4 owl:Class MONDO:0007028 biolink:NamedThing rotator cuff syndrome Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. tmpak2llvmy_mondo_relaxed.owl rotator cuff tear UMLS:C0263912|EFO:1001250|SCTID:4106009|ICD10:M75.1|https://en.wikipedia.org/wiki/Rotator_cuff_tear|ICD9:726.10 owl:Class MONDO:0006409 biolink:NamedThing signet ring cell gastric adenocarcinoma A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. tmpak2llvmy_mondo_relaxed.owl signet ring cell carcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell adenocarcinoma of stomach|gastric signet ring cell adenocarcinoma|signet Ring cell stomach adenocarcinoma|signet Ring cell adenocarcinoma of the stomach|gastric signet Ring cell adenocarcinoma ONCOTREE:SSRCC|NCIT:C5250|UMLS:C1335965|DOID:8025|EFO:1000524 owl:Class MONDO:0002044 biolink:NamedThing spastic ectropion tmpak2llvmy_mondo_relaxed.owl ICD9:374.13|DOID:1571|UMLS:C0155195|SCTID:80846000 owl:Class MONDO:0020313 biolink:NamedThing unclassified myelodysplastic/myeloproliferative disease tmpak2llvmy_mondo_relaxed.owl unclassified mixed myelodysplastic/myeloproliferatic syndrome 2022-01-01 Orphanet:98825|UMLS:CN207134 Reason: out of scope. Term to consider: MONDO_0020077. MONDO:0020077 owl:Class MONDO:0001983 biolink:NamedThing peripheral degeneration of cornea tmpak2llvmy_mondo_relaxed.owl peripheral degenerations of cornea UMLS:C0155123|ICD10:H18.46|ICD9:371.48|SCTID:89182000|DOID:14507 owl:Class MONDO:0009409 biolink:NamedThing hypervitaminosis a, susceptibility to tmpak2llvmy_mondo_relaxed.owl hypervitaminosis a, susceptibility to OMIM:240150 owl:Class MONDO:0010757 biolink:NamedThing widow's peak syndrome tmpak2llvmy_mondo_relaxed.owl widow's peak syndrome|widow's peak, ptosis, and skeletal anomalies MESH:C564040|OMIM:314570|UMLS:C1839112 owl:Class MONDO:0015570 biolink:NamedThing isolated congenital auditory ossicle malformation Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance. tmpak2llvmy_mondo_relaxed.owl congenital auditory ossicle malformation without external ear abnormality ICD10:Q16.3|Orphanet:162526 owl:Class MONDO:0009961 biolink:NamedThing renal and mullerian duct hypoplasia tmpak2llvmy_mondo_relaxed.owl renal and mullerian duct hypoplasia OMIM:266810|UMLS:C1849439|MESH:C564853 owl:Class MONDO:0022729 biolink:NamedThing chondrodysplasia punctata with steroid sulfatase deficiency tmpak2llvmy_mondo_relaxed.owl GARD:0006050 https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency owl:Class MONDO:0008374 biolink:NamedThing retinal cone dystrophy type 1 tmpak2llvmy_mondo_relaxed.owl cone dystrophy autosomal dominant|cone dystrophy, autosomal dominant|RCD1|retinal cone Degeneration|retinal cone dystrophy 1 OMIM:180020|MESH:C566719|GARD:0003196 owl:Class MONDO:0006634 biolink:NamedThing pituitary gland acidophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. tmpak2llvmy_mondo_relaxed.owl pituitary gland acidophil adenoma|eosinophil adenoma|acidophil adenoma ICDO:8280/0|NCIT:C6780|MESH:D000239|UMLS:C0001433|DOID:5392|EFO:1000791 owl:Class MONDO:0002963 biolink:NamedThing acantholytic acanthoma A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. tmpak2llvmy_mondo_relaxed.owl acantholytic acanthoma NCIT:C27517|UMLS:C1301270|DOID:4324 owl:Class MONDO:0032658 biolink:NamedThing macrocephaly, acquired, with impaired intellectual development tmpak2llvmy_mondo_relaxed.owl MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT|MACID|Macrocephaly, Acquired, With Mental Retardation OMIM:618286 owl:Class MONDO:0044632 biolink:NamedThing extracranial carotid artery aneurysm tmpak2llvmy_mondo_relaxed.owl Ecca|ECAA Orphanet:494424 owl:Class MONDO:0012185 biolink:NamedThing spondylometaphyseal dysplasia, A4 type tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia A4 type|spondylometaphyseal dysplasia, type A4|spondylometaphyseal dysplasia type A4 OMIM:609052|MESH:C563803|UMLS:C1836862|Orphanet:168555|ICD10:Q77.8|GARD:0000458 https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 owl:Class MONDO:0004597 biolink:NamedThing pulmonary embolism and infarction Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. tmpak2llvmy_mondo_relaxed.owl lung infarction|infarction, pulmonary|pulmonary infarction NCIT:C50714|ICD9:415.19|MESH:D054060|DOID:8516|SCTID:64662007|EFO:1001408|ICD9:415.1 Editor note: add terms for pulmonary necrosis owl:Class MONDO:0032707 biolink:NamedThing turnpenny-fry syndrome tmpak2llvmy_mondo_relaxed.owl TURNPENNY-FRY SYNDROME|Neurocardioskeletal Syndrome|TPFS OMIM:618371 owl:Class MONDO:0032714 biolink:NamedThing facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome tmpak2llvmy_mondo_relaxed.owl FHEIG|FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM:618381 owl:Class MONDO:0004139 biolink:NamedThing normocytic anemia Anemia in which the red blood cell volume is normal. tmpak2llvmy_mondo_relaxed.owl normocytic Anemia|anemia normocytic NCIT:C35142|UMLS:C0085577|DOID:720|SCTID:300980002|ICD9:285.8 owl:Class NCIT:C17828 biolink:NamedThing Biological Process tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:10721 biolink:NamedThing SELP tmpak2llvmy_mondo_relaxed.owl owl:Class HP:0033259 biolink:NamedThing Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. tmpak2llvmy_mondo_relaxed.owl 2020-11-28 14:43:08+00:00 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. peter human_phenotype owl:Class HGNC:26219 biolink:NamedThing FUZ tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008994 biolink:NamedThing cleidocranial dysplasia, recessive form tmpak2llvmy_mondo_relaxed.owl cleidocranial dysplasia recessive form|autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia, recessive form OMIM:216330|GARD:0010623|MESH:C565843|UMLS:C1859080 https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form owl:Class MONDO:0008938 biolink:NamedThing early-onset cerebellar ataxia with retained tendon reflexes Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. tmpak2llvmy_mondo_relaxed.owl ataxia, harding type|cerebellar ataxia early onset with retained tendon reflex|EOCA|EOCARR|Harding ataxia|cerebellar ataxia, early-onset, with retained tendon reflexes OMIM:212895|UMLS:C0393520|MESH:C535633|SCTID:230228004|Orphanet:1177|GARD:0002600|ICD9:334.3|ICD10:G11.1 owl:Class MONDO:0004694 biolink:NamedThing hepatopulmonary syndrome Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. tmpak2llvmy_mondo_relaxed.owl UMLS:C0600452|SCTID:371067004|MESH:D020065|ICD9:573.5|ICD10:K76.81|GARD:0013384|EFO:1001346|ICD9:417.8|DOID:900 https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome owl:Class MONDO:0030870 biolink:NamedThing premature ovarian failure 17 tmpak2llvmy_mondo_relaxed.owl premature ovarian failure 17|POF17 OMIM:619146 owl:Class HGNC:4042 biolink:NamedThing FZD4 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100407 biolink:NamedThing acute myeloid leukemia, t(11;15)(p15;q35) Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.) tmpak2llvmy_mondo_relaxed.owl AML, t(11;15)(p15;q35) NCIT:C131504 owl:Class MONDO:0007234 biolink:NamedThing branchial myoclonus with spastic paraparesis and cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl branchial myoclonus with spastic paraparesis and cerebellar ataxia MESH:C566188|OMIM:113610|UMLS:C1862071 owl:Class MONDO:0012559 biolink:NamedThing primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. tmpak2llvmy_mondo_relaxed.owl immunodeficiency due to defect in MAPBP-interacting PROTEIN|immunodeficiency due to defect in Mapbp-interacting Protein|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency UMLS:C1835829|SCTID:718717004|UMLS:C4305256|MESH:C563663|ICD10:D82.8|Orphanet:90023|OMIM:610798 owl:Class MONDO:0012811 biolink:NamedThing aneurysm, intracranial berry, 8 tmpak2llvmy_mondo_relaxed.owl aneurysm, intracranial BERRY, 8|ANIB8 MESH:C567405|OMIM:612162|UMLS:C2677336 owl:Class MONDO:0001394 biolink:NamedThing chronic erythremia tmpak2llvmy_mondo_relaxed.owl DOID:11868|ICD9:207.1 owl:Class MONDO:0019682 biolink:NamedThing congenital sialidosis type 2 tmpak2llvmy_mondo_relaxed.owl ICD10:E77.1|Orphanet:93400 owl:Class HGNC:2714 biolink:NamedThing DCX tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009583 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. tmpak2llvmy_mondo_relaxed.owl Ohdo blepharophimosis syndrome|Ohdo-Madokoro-Sonoda syndrome|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|blepharophimosis syndrome, Ohdo type|BMRS, Ohdo type|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome SCTID:412787009|ICD9:525.8|Orphanet:2728|ICD9:374.89|UMLS:C0796094|OMIM:249620 owl:Class IAO:8000018 biolink:NamedThing obo basic subset ontology module A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools. Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses). An ontology is OBO Basic if and only if it has the following characteristics: DAG Unidirectional No Dangling Clauses Fully Asserted Fully Labeled No equivalence axioms Singly labeled edges No qualifier lists No disjointness axioms No owl-axioms header No imports tmpak2llvmy_mondo_relaxed.owl obo basic subset ontology module owl:Class HGNC:17382 biolink:NamedThing SRGAP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017464 biolink:NamedThing congenital pseudoarthrosis of the fibula tmpak2llvmy_mondo_relaxed.owl congenital pseudarthrosis of the fibula Orphanet:295022|ICD10:Q74.2 owl:Class MONDO:0043726 biolink:NamedThing multiple organ dysfunction syndrome The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. tmpak2llvmy_mondo_relaxed.owl organ failure, multiple|multiorgan failure|multiple organ system failure|multiple organ dysfunction syndrome|multiple organ failure|organ dysfunction syndrome, multiple|multisystem organ failure|multiple organ systems failure|multiple organ failures|failure, multiple organ|multi-organ failure|multiple systems organ failure|MODS SCTID:57653000|MESH:D009102 owl:Class MONDO:0021952 biolink:NamedThing autoimmune progesterone dermatitis Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. tmpak2llvmy_mondo_relaxed.owl autoimmune progesterone urticaria|autoimmune progesterone dermatitis|progesterone dermatitis|APD|autoimmune progesterone dermatitis/urticaria GARD:0009139|UMLS:C1260879|MESH:C535299|SCTID:400009001|ICD9:708.8 https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis owl:Class MONDO:0014064 biolink:NamedThing mitochondrial complex III deficiency nuclear type 3 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. tmpak2llvmy_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in UQCRB|UQCRB mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 3|MC3DN3|mitochondrial complex III deficiency, nuclear type 3 UMLS:C3554606|OMIM:615158|DOID:0080112 owl:Class MONDO:0020417 biolink:NamedThing right aortic arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. tmpak2llvmy_mondo_relaxed.owl right aortic arch (disease)|right aortic arch right aortic arch (disease) NCIT:C103917|Orphanet:99081|ICD10:Q25.4|SCTID:111321007|HP:0012020|MedDRA:10067407 owl:Class MONDO:0008968 biolink:NamedThing cholestasis with gallstone, ataxia, and visual disturbance tmpak2llvmy_mondo_relaxed.owl cholestasis with gallstone, ataxia, and visual disturbance MESH:C565856|OMIM:214980|UMLS:C1859161 owl:Class MONDO:0030034 biolink:NamedThing epilepsy, progressive myoclonic, 11 tmpak2llvmy_mondo_relaxed.owl EPM11|EPILEPSY, PROGRESSIVE MYOCLONIC, 11|epilepsy, progressive myoclonic, 11 OMIM:618876 owl:Class MONDO:0022770 biolink:NamedThing circumscribed cutaneous aplasia of the vertex tmpak2llvmy_mondo_relaxed.owl GARD:0001365 https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex owl:Class MONDO:0009327 biolink:NamedThing heart, malformation of tmpak2llvmy_mondo_relaxed.owl heart, malformation of OMIM:140500|OMIM:234750 owl:Class MONDO:0001032 biolink:NamedThing Mooren ulcer tmpak2llvmy_mondo_relaxed.owl Mooren's ulcer DOID:10439|SCTID:22440001|UMLS:C0155072|ICD10:H16.05|ICD9:370.07|Orphanet:519408 owl:Class HP:0001913 biolink:NamedThing Granulocytopenia An abnormally reduced number of granulocytes in the blood. tmpak2llvmy_mondo_relaxed.owl SNOMEDCT_US:17182001|UMLS:C0001824|SNOMEDCT_US:417672002|MSH:D000380 human_phenotype owl:Class MONDO:0100006 biolink:NamedThing secondary mast cell activation syndrome Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells. tmpak2llvmy_mondo_relaxed.owl secondary MACS 2018-07-17 21:45:26+00:00 owl:Class CHEBI:83403 biolink:NamedThing monochlorobenzenes Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007865 biolink:NamedThing knuckle pads tmpak2llvmy_mondo_relaxed.owl knuckle pads ICD10:M72.1|OMIM:149100|UMLS:C0264000|ICD9:728.79|SCTID:16687001 owl:Class MONDO:0022481 biolink:NamedThing APO A-i deficiency tmpak2llvmy_mondo_relaxed.owl GARD:0000758 https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency owl:Class MONDO:0030077 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 3 tmpak2llvmy_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome 3|Congenital Nad Deficiency Disorder 3|VCRL3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 OMIM:618845 owl:Class MONDO:0005452 biolink:NamedThing bulimia nervosa A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. tmpak2llvmy_mondo_relaxed.owl bulimia|hyperorexia nervosa SCTID:78004001|EFO:0005204|DOID:12129|ICD10:F50.2|MESH:D052018|ICD9:307.51|NCIT:C34440 owl:Class NCBITaxon:44417 biolink:NamedThing Cyclospora tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011025 biolink:NamedThing Cayman type cerebellar ataxia Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. tmpak2llvmy_mondo_relaxed.owl Cayman cerebellar ataxia|Cayman type cerebellar ataxia|cerebellar ataxia, CAYMAN type|cerebellar ataxia, Cayman type|Cayman ataxia|ATCAY OMIM:601238|ICD10:G11.0|MESH:C563363|UMLS:C1832585|SCTID:717332007|Orphanet:94122|DOID:0060694 owl:Class MONDO:0032924 biolink:NamedThing ciliary dyskinesia, primary, 45 tmpak2llvmy_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 45|CILD45|Ciliary Dyskinesia, Primary, 45, Without Situs Inversus OMIM:618801 owl:Class MONDO:0030326 biolink:NamedThing mitochondrial dna depletion syndrome 16B (neuroophthalmic type) tmpak2llvmy_mondo_relaxed.owl MTDPS16B|mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM:619425 owl:Class MONDO:0007713 biolink:NamedThing clonic hemifacial spasm tmpak2llvmy_mondo_relaxed.owl facial hemispasm|hemifacial spasm, familial|hemifacial spasm|focal myoclonus of face MESH:C564198|UMLS:C3536936|ICD10:G51.3|UMLS:C1841639|Orphanet:221083|OMIM:141405 owl:Class MONDO:0001392 biolink:NamedThing monocular exotropia tmpak2llvmy_mondo_relaxed.owl ICD10:H50.11|SCTID:5725006|DOID:11853|UMLS:C0152206|ICD9:378.11 owl:Class MONDO:0009108 biolink:NamedThing hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. tmpak2llvmy_mondo_relaxed.owl dibasic aminoaciduria 1|dibasic amino aciduria type 1|dibasic amino aciduria 1|dibasic amino aciduria I GARD:0001854|ICD10:E72.0|Orphanet:1032|OMIM:222690|MESH:C567132|UMLS:C2673736 https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 owl:Class MONDO:0024508 biolink:NamedThing epilepsy, hot water, 1 tmpak2llvmy_mondo_relaxed.owl HWE1|epilepsy, hot water, 1|bathing epilepsy|water immersion epilepsy OMIM:613339 owl:Class MONDO:0008738 biolink:NamedThing aganglionosis, total intestinal A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpak2llvmy_mondo_relaxed.owl aganglionosis, total intestinal|total intestinal aganglionosis NCIT:C101074|OMIM:202550 owl:Class MONDO:0030061 biolink:NamedThing periventricular nodular heterotopia 9 tmpak2llvmy_mondo_relaxed.owl periventricular nodular heterotopia 9|PVNH9|PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM:618918 owl:Class MONDO:0019660 biolink:NamedThing Pfeiffer syndrome type 2 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.0|Orphanet:93259|UMLS:CN206534 owl:Class MONDO:0025381 biolink:NamedThing avian leukosis A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. tmpak2llvmy_mondo_relaxed.owl leukoses, Avian|Avian Leukoses|leukosis, Avian MESH:D001353|UMLS:C0004421 owl:Class MONDO:0044316 biolink:NamedThing thrombocytopenia, anemia, and myelofibrosis tmpak2llvmy_mondo_relaxed.owl thrombocytopenia, anemia, and myelofibrosis|THAMY OMIM:617441|UMLS:C4479504 owl:Class MONDO:0026045 biolink:NamedThing prurigo nodularis Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities. tmpak2llvmy_mondo_relaxed.owl GARD:0007480 owl:Class MONDO:0001513 biolink:NamedThing pulsating exophthalmos tmpak2llvmy_mondo_relaxed.owl DOID:12364|SCTID:2284002|ICD9:376.35|UMLS:C0155271|ICD10:H05.26 owl:Class GO:0008366 biolink:NamedThing axon ensheathment Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. tmpak2llvmy_mondo_relaxed.owl cellular nerve ensheathment|cellular axon ensheathment|nerve ensheathment owl:Class MONDO:0008855 biolink:NamedThing MHC class II deficiency Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. tmpak2llvmy_mondo_relaxed.owl Bare lymphocyte syndrome 2|Bare lymphocyte syndrome|bare lymphocyte syndrome type II|SCID, HLA Class 2-negative|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|HLA class 2-negative severe combined immunodeficiency|BLSII|HLA class 2-negative SCID|BLS, type II|Bare lymphocyte syndrome, type II, complementation group E|immunodeficiency by defective expression of HLA class 2|Bare lymphocyte syndrome, type II, complementation group B|Bare lymphocyte syndrome type 2|Bare lymphocyte syndrome, type 2|MHC class II expression deficiency|BARE lymphocyte syndrome|Bare lymphocyte syndrome, type II, complementation group A|BARE lymphocyte syndrome, type II, complementation group D, included|BARE lymphocyte syndrome, type II, complementation group E, included|severe combined immunodeficiency, HLA class ii-negative|BLS|SCID, HLA Class II-negative|Bare lymphocyte syndrome, type II, complementation group D|severe combined immunodeficiency, HLA Class II-negative|Bare lymphocyte syndrome, type II|SCID due to absent class II HLA antigens|BLS 2|Bls, type 2|Bare lymphocyte syndrome, type II, complementation group C|major histocompatibility complex class II expression deficiency|BARE lymphocyte syndrome, type II, complementation group C, included|BARE lymphocyte syndrome, type II, complementation group B, included|BLS type II|immunodeficiency by defective expression of HLA class type 2|BARE lymphocyte syndrome, type II SCTID:71904008|ICD10:D81.7|Orphanet:572|OMIM:209920|DOID:5812|NCIT:C3895|ICD10:D81.6|UMLS:CN239286|GARD:0000824|MESH:C537079 https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 owl:Class MONDO:0014081 biolink:NamedThing severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. tmpak2llvmy_mondo_relaxed.owl immunodeficiency 11|CARD11 immunodeficiency|SCID due to CARD11 deficiency|IMD11A|IMD11|immunodeficiency type 11 Orphanet:357237|ICD10:D81.2|OMIM:615206|UMLS:C3554686 owl:Class MONDO:0004547 biolink:NamedThing reticular pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. tmpak2llvmy_mondo_relaxed.owl testicular yolk Sac tumor, reticular pattern|testicular yolk Sac tumor, microcystic pattern NCIT:C39923|UMLS:C1515308|DOID:8392 owl:Class MONDO:0012306 biolink:NamedThing cardiomyopathy, familial restrictive, 2 tmpak2llvmy_mondo_relaxed.owl cardiomyopathy, familial restrictive, 2|RCM2 UMLS:C1865071|DOID:0111426|MESH:C566512|OMIM:609578 owl:Class MONDO:0008527 biolink:NamedThing tarsal coalition tmpak2llvmy_mondo_relaxed.owl tarsal coalition|tarsal fusion ICD9:755.67|SCTID:27173008|OMIM:186850 owl:Class MONDO:0008934 biolink:NamedThing cerebellar ataxia-ectodermal dysplasia syndrome Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. tmpak2llvmy_mondo_relaxed.owl cerebellar ataxia ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia|ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia - ectodermal dysplasia UMLS:C1859306|GARD:0001189|Orphanet:1174|MESH:C535350|ICD10:G11.1|OMIM:212835|SCTID:715371006 owl:Class MONDO:0005759 biolink:NamedThing fascioloidiasis Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. tmpak2llvmy_mondo_relaxed.owl EFO:0007268|UMLS:C0015655|MESH:D005213|SCTID:69550000|DOID:1217 owl:Class MONDO:0017490 biolink:NamedThing tibial hemimelia, unilateral tmpak2llvmy_mondo_relaxed.owl tibial longitudinal meromelia, unilateral ICD10:Q72.5|UMLS:CN203228|Orphanet:295077 owl:Class MONDO:0019646 biolink:NamedThing unilateral congenital megacalycosis tmpak2llvmy_mondo_relaxed.owl ICD10:Q63.8|Orphanet:93176 owl:Class MONDO:0011741 biolink:NamedThing hirschsprung disease, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl HSCR6|Hirschsprung disease, susceptibility to, 6 OMIM:606874 owl:Class MONDO:0016395 biolink:NamedThing foveal hypoplasia-presenile cataract syndrome tmpak2llvmy_mondo_relaxed.owl O'Donnell-Pappas syndrome MESH:C537858|Orphanet:2253|UMLS:C2931644|ICD10:H26.0 owl:Class MONDO:0018595 biolink:NamedThing single-organ polyarteritis nodosa Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common. tmpak2llvmy_mondo_relaxed.owl single-organ periarteritis nodosa|single-organ PAN Orphanet:439755|ICD10:M30.0|UMLS:CN242112 owl:Class MONDO:0004772 biolink:NamedThing glaucomatocyclitic crisis tmpak2llvmy_mondo_relaxed.owl Posner-Schlossman syndrome|Terrien-Viel syndrome SCTID:29538005|ICD9:364.22|UMLS:C0152138|DOID:9378 owl:Class MONDO:0013592 biolink:NamedThing nonsyndromic congenital nail disorder 9 tmpak2llvmy_mondo_relaxed.owl nail disorder, nonsyndromic congenital, 9|anonychia-onycholysis, isolated|NDNC9|nonsyndromic congenital nail disorder type 9|onychodystrophy|nail dysplasia UMLS:C3279947|ICD9:703.8|DOID:0080087|SCTID:87065009|OMIM:614149 owl:Class MONDO:0024332 biolink:NamedThing perennial allergic rhinitis Allergic rhinitis caused by indoor allergens and lasting year round. tmpak2llvmy_mondo_relaxed.owl nonseasonal allergic rhinitis|perennial allergic rhinitis|non-seasonal allergic rhinitis SCTID:446096008|UMLS:C0035457|NCIT:C92189 owl:Class HGNC:7865 biolink:NamedThing NODAL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0022171 biolink:NamedThing chromhidrosis A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms. tmpak2llvmy_mondo_relaxed.owl secretion of colored sweat|chromhidrosis SCTID:26147006|GARD:0010749|ICD9:705.89|ICD10:L75.1 https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis owl:Class MONDO:0012113 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|EIG3|epilepsy, idiopathic generalized, susceptibility to, 3 OMIM:608762|DOID:0111318 owl:Class MONDO:0011288 biolink:NamedThing spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal tmpak2llvmy_mondo_relaxed.owl spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal UMLS:C1864185|MESH:C566409|OMIM:603117 owl:Class MONDO:0021538 biolink:NamedThing verrucous carcinoma of oral cavity A verrucous carcinoma that involves the oral cavity. tmpak2llvmy_mondo_relaxed.owl oral cavity verrucous carcinoma|verrucous carcinoma of mouth|verrucous carcinoma of the oral cavity|mouth verrucous carcinoma|verrucous carcinoma of the mouth|oral cavity verrucous cancer SCTID:403889000|NCIT:C8174|UMLS:C0280306 owl:Class MONDO:0011711 biolink:NamedThing specific language impairment 2 tmpak2llvmy_mondo_relaxed.owl specific language impairment 2|SLI2|specific language impairment quantitative trait locus on chromosome 19 UMLS:C1847605|OMIM:606712 owl:Class MONDO:0007364 biolink:NamedThing arthrogryposis, distal, type 2E tmpak2llvmy_mondo_relaxed.owl contractures of fingers and jaw|arthrogryposis, distal, type 2E MESH:C535384|OMIM:121070|UMLS:C1852597 owl:Class MONDO:0003202 biolink:NamedThing pituitary gland basophilic carcinoma tmpak2llvmy_mondo_relaxed.owl basophil carcinoma|basophil adenocarcinoma|pituitary gland basophil carcinoma|basophil carcinoma (morphologic abnormality)|basophilic carcinoma DOID:4915|UMLS:C1704778|NCIT:C27392 owl:Class MONDO:0011307 biolink:NamedThing schizophrenia 2 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. tmpak2llvmy_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 11Q-related|SCZD2|schizophrenia 2 UMLS:C1864010|DOID:0070078|OMIM:603342 owl:Class MONDO:0030027 biolink:NamedThing tremor, hereditary essential, 6 tmpak2llvmy_mondo_relaxed.owl tremor, hereditary essential, 6|TREMOR, HEREDITARY ESSENTIAL, 6|ETM6 OMIM:618866 owl:Class MONDO:0022735 biolink:NamedThing choroid plexus cyst tmpak2llvmy_mondo_relaxed.owl CPC - choroid plexus cyst|choroid plexus cyst GARD:0001309|NCIT:C4351|SCTID:230790004 https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst owl:Class MONDO:0043197 biolink:NamedThing ruvalcaba churesigaew myhre syndrome tmpak2llvmy_mondo_relaxed.owl onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis UMLS:C2931437|MESH:C537190|GARD:0004747 owl:Class CL:1000418 biolink:NamedThing myoepithelial cell of lactiferous alveolus A myoepithelial cell that is part of the mammary gland alveolus. tmpak2llvmy_mondo_relaxed.owl myoepithelial cell of mammary alveolus|basal cell of alveolus of lactiferous gland FMA:67802 cell owl:Class MONDO:0031012 biolink:NamedThing autoimmune uveitis An autoimmune form of uveitis (disease). tmpak2llvmy_mondo_relaxed.owl autoimmune uveitis (disease) DOID:0040088 owl:Class MONDO:0009539 biolink:NamedThing lymphoblastic leukemia, acute, with lymphomatous features tmpak2llvmy_mondo_relaxed.owl lymphomatous All|lymphoblastic leukemia, acute, with lymphomatous features|lall OMIM:247640|MESH:C565429|UMLS:C1855472 owl:Class MONDO:0015402 biolink:NamedThing mandibular arteriovenous malformation Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. tmpak2llvmy_mondo_relaxed.owl arteriovenous malformation of mandible ICD10:Q27.3|SCTID:703334000|Orphanet:141174 owl:Class MONDO:0011736 biolink:NamedThing Cree intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Cree mental retardation syndrome|Cree intellectual disability syndrome MESH:C564654|OMIM:606851|UMLS:C1847361 owl:Class MONDO:0014778 biolink:NamedThing Lamb-Shaffer syndrome tmpak2llvmy_mondo_relaxed.owl Lamb-Shaffer syndrome; LAMSHF|Lamb-Shaffer syndrome|LAMSHF OMIM:616803|UMLS:C4225202|Orphanet:530983 owl:Class MONDO:0001645 biolink:NamedThing crescentic glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. tmpak2llvmy_mondo_relaxed.owl crescentic glomerulonephritis|crescentic glomerulonephritis (disease) crescentic glomerulonephritis (disease) ICD9:580.4|DOID:13139|SCTID:236398000|NCIT:C35444|HP:0008653 owl:Class MONDO:0010667 biolink:NamedThing Prieto syndrome This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth. tmpak2llvmy_mondo_relaxed.owl PRS|Prieto X-linked intellectual disability syndrome|MRXS2|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|intellectual disability, X-linked, syndromic 2|Prieto-Badia-Mulas syndrome|mental retardation, X-linked, syndromic 2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|Prieto X-linked mental retardation syndrome|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy Orphanet:2958|SCTID:719140001|NCIT:C18058|DOID:0060805|OMIM:309610|GARD:0004482|MESH:C535274 owl:Class MONDO:0009978 biolink:NamedThing retinal degeneration-nanophthalmos-glaucoma syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl MacKay Shek Carr syndrome|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|retinal degeneration, nanophthalmos, glaucoma|Mackay-Shek-Carr syndrome Orphanet:1574|ICD10:H35.5|SCTID:723503006|OMIM:267760|MESH:C538364|GARD:0000395|UMLS:C2931831 owl:Class MONDO:0015165 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. tmpak2llvmy_mondo_relaxed.owl AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ICD10:C92.0|UMLS:CN197505|Orphanet:102381 owl:Class MONDO:0043179 biolink:NamedThing piepkorn karp hickok syndrome tmpak2llvmy_mondo_relaxed.owl short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect MESH:C535774|GARD:0004345|UMLS:C2931016 owl:Class MONDO:0033969 biolink:NamedThing inflammatory bowel disease-recurrent sinopulmonary infections syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:529980 owl:Class CL:0002027 biolink:NamedThing CD9-positive, CD41-positive megakaryocyte cell A megakaryocyte cell with is CD9-positive and CD41-positive. tmpak2llvmy_mondo_relaxed.owl Markers are commonly associated with mouse cells. tmeehan 2010-04-27T10:39:07Z cell owl:Class MONDO:0030844 biolink:NamedThing spermatogenic failure 47 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 47|SPGF47 OMIM:619102 owl:Class HGNC:16243 biolink:NamedThing MYLK2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020977 biolink:NamedThing granulomatous prostatitis An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue. tmpak2llvmy_mondo_relaxed.owl Granulomatous prostatitis|Granulomatous Prostatitis|granulomatous prostatitis ICD9:601.8|UMLS:C0018204|SCTID:61500009|NCIT:C26789 owl:Class MONDO:0004319 biolink:NamedThing hypercalcemic type ovarian small cell carcinoma An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. tmpak2llvmy_mondo_relaxed.owl SCCOHT|ovarian small cell carcinoma, hypercalcemic type UMLS:C1518736|DOID:7651|NCIT:C40439 owl:Class MONDO:0017477 biolink:NamedThing lower limb hypertrophy Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.2|Orphanet:295051 owl:Class MONDO:0001753 biolink:NamedThing female infertility of uterine origin tmpak2llvmy_mondo_relaxed.owl infertility, female, of uterine origin SCTID:26899006|ICD9:628.3|ICD10:N97.2|DOID:13589 owl:Class MONDO:0030846 biolink:NamedThing spermatogenic failure 48 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 48|SPGF48 OMIM:619108 owl:Class MONDO:0000669 biolink:NamedThing color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. tmpak2llvmy_mondo_relaxed.owl DOID:0060139 owl:Class MONDO:0011691 biolink:NamedThing amyotrophic lateral sclerosis type 3 tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis 3|ALS3 DOID:0060195|OMIM:606640|GARD:0010501|MESH:C564688 https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3 owl:Class MONDO:0012710 biolink:NamedThing hirschsprung disease, susceptibility to, 9 tmpak2llvmy_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 9|HSCR9 OMIM:611644 owl:Class MONDO:0006518 biolink:NamedThing sporadic Creutzfeld Jacob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years. tmpak2llvmy_mondo_relaxed.owl EFO:1000656 owl:Class MONDO:0017804 biolink:NamedThing autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. tmpak2llvmy_mondo_relaxed.owl UMLS:CN203767|Orphanet:314572 owl:Class MONDO:0006021 biolink:NamedThing Prinzmetal angina A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. tmpak2llvmy_mondo_relaxed.owl angina inversa|Prinzmetal's angina|variant angina|Prinzmetal's variant angina|variant angina pectoris DOID:0111151|UMLS:C2931193|Wikipedia:Prinzmetal's_angina|UMLS:C0002963|ICD9:413.1|GARD:0007465|SCTID:87343002|MESH:D000788|EFO:1000013 Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). owl:Class MONDO:0022990 biolink:NamedThing diphallus rachischisis imperforate anus tmpak2llvmy_mondo_relaxed.owl GARD:0001873 https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus owl:Class MONDO:0013915 biolink:NamedThing hypogonadotropic hypogonadism 13 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. tmpak2llvmy_mondo_relaxed.owl HH13|hypogonadotropic hypogonadism 13 with or without anosmia|KISS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in KISS1 DOID:0090073|ICD10:E23.0|OMIM:614842|UMLS:C3541462 owl:Class MONDO:0004552 biolink:NamedThing microinvasive cervical squamous cell carcinoma A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. tmpak2llvmy_mondo_relaxed.owl early invasive cervical squamous cell carcinoma UMLS:C1333370|DOID:8409|NCIT:C36094 owl:Class MONDO:0024973 biolink:NamedThing pneumonia, atypical interstitial, of cattle A cattle disease of uncertain cause, probably an allergic reaction. tmpak2llvmy_mondo_relaxed.owl adenomatosis, bovine pulmonary|Adenomatoses, bovine pulmonary|pulmonary Adenomatoses, bovine|atypical interstitial pneumonia of cattle|pulmonary adenomatosis, bovine|bovine pulmonary Adenomatoses|emphysema, acute bovine pulmonary|fever, Fog|adenomatosis, pulmonary, bovine|bovine pulmonary adenomatosis|Fog fever MESH:D011016 owl:Class MONDO:0036482 biolink:NamedThing retinitis pigmentosa 81 tmpak2llvmy_mondo_relaxed.owl RP81|retinitis pigmentosa 81 UMLS:CN802781|OMIM:617871|DOID:0080292 owl:Class MONDO:0001060 biolink:NamedThing microinvasive gastric cancer An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. tmpak2llvmy_mondo_relaxed.owl superficial gastric cancer|early gastric cancer|superficial spreading gastric cancer|surface gastric cancer|EGC SCTID:276809004|NCIT:C27131|DOID:10541|UMLS:C0349530 owl:Class MONDO:0022716 biolink:NamedThing Chiari malformation type 4 tmpak2llvmy_mondo_relaxed.owl Chiari malformation type IV|Arnold Chiari malformation type IV|Chiari type IV malformation SCTID:253187005|GARD:0009234 https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 owl:Class CHEBI:76898 biolink:NamedThing EC 1.14.14.1 (unspecific monooxygenase) inhibitor An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1). tmpak2llvmy_mondo_relaxed.owl unspecific monooxygenase (EC 1.14.14.1) inhibitor|flavoprotein monooxygenase inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|aryl hydrocarbon hydroxylase inhibitors|microsomal monooxygenase inhibitor|unspecific monooxygenase inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|unspecific monooxygenase inhibitors|flavoprotein monooxygenase inhibitors|aryl hydrocarbon hydroxylase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitors|xenobiotic monooxygenase inhibitor|flavoprotein-linked monooxygenase inhibitor|aryl-4-monooxygenase inhibitor|flavoprotein-linked monooxygenase inhibitors|microsomal P-450 inhibitor|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|EC 1.14.14.1 inhibitor|microsomal monooxygenase inhibitors|xenobiotic monooxygenase inhibitors|microsomal P-450 inhibitors|EC 1.14.14.1 inhibitors|aryl-4-monooxygenase inhibitors owl:Class MONDO:0016351 biolink:NamedThing anti-HLA hyperimmunization Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion. tmpak2llvmy_mondo_relaxed.owl UMLS:CN201194|Orphanet:2194|GARD:0000730 https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization owl:Class MONDO:0025701 biolink:NamedThing leukodystrophy, hypomyelinating, 22 tmpak2llvmy_mondo_relaxed.owl HLD22 OMIM:619328 owl:Class MONDO:0017516 biolink:NamedThing brachydactyly of fingers, bilateral tmpak2llvmy_mondo_relaxed.owl short fingers, bilateral Orphanet:295130|ICD10:Q71.8 owl:Class MONDO:0030902 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 36 tmpak2llvmy_mondo_relaxed.owl mitochondrial complex 1 deficiency, nuclear type 36|MC1DN36 OMIM:619170 owl:Class MONDO:0006475 biolink:NamedThing unclassified renal cell carcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. tmpak2llvmy_mondo_relaxed.owl URCC|unclassified renal cell cancer|unclassified renal cell carcinoma 2022-01-01 ONCOTREE:URCC|UMLS:C1336853|EFO:1000603|NCIT:C27892 Reason: out of scope. Term to consider: MONDO_0005086. MONDO:0005086 owl:Class MONDO:0005588 biolink:NamedThing chemotherapy-induced oral mucositis Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment. tmpak2llvmy_mondo_relaxed.owl EFO:0006313 owl:Class MONDO:0003336 biolink:NamedThing acute necrotizing encephalitis A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) tmpak2llvmy_mondo_relaxed.owl acute necrotizing encephalitis|acute necrotizing encephalopathy|ANE DOID:5222|NCIT:C35383|SCTID:111897007|ICD9:049.8|UMLS:C0338418|GARD:0013233 owl:Class MONDO:0007807 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase suppressor tmpak2llvmy_mondo_relaxed.owl hypoxanthine guanine phosphoribosyltransferase suppressor OMIM:146580 owl:Class MONDO:0000756 biolink:NamedThing parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. tmpak2llvmy_mondo_relaxed.owl DOID:0060338 Editor note: check subclasses, does not appear to be complete owl:Class MONDO:0018853 biolink:NamedThing transgrediens et progrediens palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl progressive diffuse PPK|progressive diffuse palmoplantar keratoderma|Greither disease|keratosis extremitatum hereditaria progrediens|keratosis palmoplantaris transgrediens et progrediens|transgrediens et progrediens PPK ICD10:Q82.8|Orphanet:495|UMLS:CN205162 owl:Class HGNC:8059 biolink:NamedThing NUMA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015345 biolink:NamedThing perioral myoclonia with absences Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. tmpak2llvmy_mondo_relaxed.owl POMA SCTID:766815007|Orphanet:139426 owl:Class MONDO:0054750 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 24 tmpak2llvmy_mondo_relaxed.owl ALS24|amyotrophic lateral sclerosis, susceptibility to, 24 UMLS:CN842244|OMIM:617892 owl:Class MONDO:0004317 biolink:NamedThing multiple spinal canal and spinal cord meningioma Multiple meningiomas that arises from the spinal meninges. tmpak2llvmy_mondo_relaxed.owl multiple intraspinal Meningiomas|multiple meningiomas of the spinal canal and spinal cord|multiple Meningiomas of spinal canal and spinal cord|multiple spinal canal and spinal cord Meningiomas NCIT:C5275|DOID:7646|UMLS:C1334825 owl:Class NCBITaxon:620 biolink:NamedThing Shigella tmpak2llvmy_mondo_relaxed.owl PMID:26834722|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009811 biolink:NamedThing osteoma of middle ear tmpak2llvmy_mondo_relaxed.owl osteoma of middle ear UMLS:C1850142|MESH:C564917|OMIM:259650 owl:Class MONDO:0030869 biolink:NamedThing spermatogenic failures 50 tmpak2llvmy_mondo_relaxed.owl SPGF50|spermatogenic failures 50 OMIM:619145 owl:Class MONDO:0013055 biolink:NamedThing Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features tmpak2llvmy_mondo_relaxed.owl Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features GARD:0010683|OMIM:612948|UMLS:C2751864|MESH:C548086 https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features owl:Class MONDO:0033948 biolink:NamedThing acquired angioedema with C1Inh deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:528663 owl:Class MONDO:0018311 biolink:NamedThing acromelanosis Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life. tmpak2llvmy_mondo_relaxed.owl progressive acromelanosis SCTID:239089006|ICD9:709.09|GARD:0004500|ICD10:L81.4|Orphanet:39 https://rarediseases.info.nih.gov/diseases/4500/acromelanosis owl:Class MONDO:0009418 biolink:NamedThing hypogonadism with low-grade mental deficiency and microcephaly tmpak2llvmy_mondo_relaxed.owl hypogonadism with low-grade mental deficiency and microcephaly MESH:C565482|OMIM:241000|UMLS:C1855858 owl:Class MONDO:0011321 biolink:NamedThing expansile bone lesions tmpak2llvmy_mondo_relaxed.owl expansile bone lesions OMIM:603439|MESH:C566375|UMLS:C1863880 owl:Class MONDO:0009336 biolink:NamedThing hemosiderosis, pulmonary, with deficiency of gamma-a globulin tmpak2llvmy_mondo_relaxed.owl hemosiderosis, pulmonary, with deficiency of gamma-a globulin OMIM:235500 owl:Class MONDO:0004846 biolink:NamedThing placental abruption Vaginal bleeding preceding the 20th week of gestation. tmpak2llvmy_mondo_relaxed.owl placental abruption|Abruptio placentae, premature separation of placenta|abruptio placentae|premature separation of placenta|abruptio placenta|placental abruption (disease) placental abruption (disease) ICD9:641.20|DOID:9667|ICD9:640.03|NCIT:C26685|SCTID:415105001|ICD10:O20.0|EFO:1001754|HP:0011419|MESH:D000037|ICD9:640.0 owl:Class MONDO:0013020 biolink:NamedThing narcolepsy 5, susceptibility to tmpak2llvmy_mondo_relaxed.owl narcolepsy 5, susceptibility to|NRCLP5 OMIM:612851|UMLS:C2748508 owl:Class MONDO:0018834 biolink:NamedThing adenylosuccinate synthetase-like 1-related distal myopathy tmpak2llvmy_mondo_relaxed.owl ADSSL1-related distal myopathy Orphanet:482601 owl:Class MONDO:0001030 biolink:NamedThing keratoconus, stable condition tmpak2llvmy_mondo_relaxed.owl stable condition keratoconus UMLS:C0155131|ICD10:H18.61|ICD9:371.61|DOID:10428|SCTID:193844000 owl:Class HGNC:19351 biolink:NamedThing BICC1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009357 biolink:NamedThing humeroradial synostosis with craniofacial anomalies tmpak2llvmy_mondo_relaxed.owl humeroradial synostosis with craniofacial anomalies MESH:C566888|UMLS:C1968717|OMIM:236410 owl:Class MONDO:0010145 biolink:NamedThing tibia, absence of, with congenital deafness tmpak2llvmy_mondo_relaxed.owl tibia, absence of, with congenital deafness OMIM:275230|MESH:C564764|UMLS:C1848758 owl:Class MONDO:0018141 biolink:NamedThing pyruvate carboxylase deficiency, infantile form Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. tmpak2llvmy_mondo_relaxed.owl pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A ICD10:E74.4|Orphanet:353308|UMLS:CN204538 owl:Class HGNC:7155 biolink:NamedThing MMP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009125 biolink:NamedThing dopamine beta-hydroxylase, plasma, thermolability of tmpak2llvmy_mondo_relaxed.owl dopamine beta-hydroxylase, plasma, thermolability of OMIM:223380 owl:Class MONDO:0005063 biolink:NamedThing medullary breast carcinoma An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. tmpak2llvmy_mondo_relaxed.owl infiltrating medullary carcinoma of breast|medullary carcinoma of breast|infiltrating medullary carcinoma of the breast|invasive medullary carcinoma of breast|medullary carcinoma of the breast|medullary breast cancer|medullary breast carcinoma|invasive medullary breast carcinoma|breast medullary carcinoma|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of the breast ICDO:8512/3|UMLS:C0860580|DOID:5605|EFO:0000580|NCIT:C9119 owl:Class MONDO:0015419 biolink:NamedThing midline cervical cleft Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia. tmpak2llvmy_mondo_relaxed.owl ICD9:744.89|SCTID:403557001|ICD10:Q18.8|Orphanet:141288 owl:Class NCBITaxon:38820 biolink:NamedThing Poales tmpak2llvmy_mondo_relaxed.owl PMID:26350789|GC_ID:1 NCBITaxon:4727|NCBITaxon:4478 ncbi_taxonomy owl:Class MONDO:0033545 biolink:NamedThing mitochondrial DNA depletion syndrome 19 tmpak2llvmy_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 19|MTDPS19 OMIM:618972 owl:Class MONDO:0007592 biolink:NamedThing familial recurrent peripheral facial palsy tmpak2llvmy_mondo_relaxed.owl familial recurrent Bell palsy|facial palsy, familial recurrent peripheral MESH:C565028|UMLS:C1851399|OMIM:134200|ICD10:G51.0|Orphanet:2809 owl:Class MONDO:0011312 biolink:NamedThing thyroid carcinoma, nonmedullary, with or without cell oxyphilia tmpak2llvmy_mondo_relaxed.owl TCO|TCO1|nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO 1|thyroid carcinoma, nonmedullary, with or without cell oxyphilia GARD:0008488|OMIM:603386|UMLS:C1863925|MESH:C537842 https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia owl:Class SO:0000656 biolink:NamedThing stRNA_encoding A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development. tmpak2llvmy_mondo_relaxed.owl stRNA encoding owl:Class MONDO:0002960 biolink:NamedThing polyradiculopathy A radiculopathy that is present in more than one nerve. tmpak2llvmy_mondo_relaxed.owl MESH:D011128|UMLS:C0032586|SCTID:75572007|DOID:4307|NCIT:C34934|ICD9:356.9 owl:Class MONDO:0030049 biolink:NamedThing 46,xx sex reversal 5 tmpak2llvmy_mondo_relaxed.owl 46,xx sex reversal 5|SRXX5|46,XX SEX REVERSAL 5 OMIM:618901 owl:Class MONDO:0008106 biolink:NamedThing nystagmus 2, congenital, autosomal dominant tmpak2llvmy_mondo_relaxed.owl Nystagmus congenital, motor 2|NYSTAGMUS 2, congenital, autosomal dominant|Nystagmus, congenital motor, 2|NYS2 GARD:0009599|OMIM:164100|MESH:C537854 owl:Class MONDO:0009208 biolink:NamedThing faciothoracogenital syndrome tmpak2llvmy_mondo_relaxed.owl facio thoraco genital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|faciothoracogenital syndrome MESH:C536387|GARD:0002228|OMIM:227320|UMLS:C2931184 owl:Class MONDO:0011401 biolink:NamedThing Alzheimer disease without neurofibrillary tangles tmpak2llvmy_mondo_relaxed.owl Alzheimer's disease type 15|Alzheimer disease 15|Alzheimer's disease 15|Alzheimer disease without neurofibrillary tangles|AD15|Alzheimer's disease without neurofibrillary tangles DOID:0110048|ICD10:G30|UMLS:C1858751|MESH:C566998|UMLS:C1970143|OMIM:611155|OMIM:604154|GARD:0007190|MESH:C536599 owl:Class MONDO:0015471 biolink:NamedThing benign focal seizures of adolescence tmpak2llvmy_mondo_relaxed.owl adolescent benign focal crisis UMLS:C4275141|SCTID:715425000|Orphanet:1544|ICD10:G40.8 owl:Class MONDO:0020084 biolink:NamedThing lymphoproliferative disease associated with primary immune disease tmpak2llvmy_mondo_relaxed.owl Orphanet:98291|UMLS:CN206986|ICD10:D47.9 owl:Class NCBITaxon:53436 biolink:NamedThing Treponema pallidum subsp. endemicum tmpak2llvmy_mondo_relaxed.owl Treponema pallidum endemicum GC_ID:11 ncbi_taxonomy owl:Class MONDO:0022765 biolink:NamedThing chronic demyelinizing neuropathy with IgM monoclonal tmpak2llvmy_mondo_relaxed.owl GARD:0001352 https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal owl:Class MONDO:0001151 biolink:NamedThing benign essential hypertension A condition of mild to moderate high blood pressure that has no identifiable cause. tmpak2llvmy_mondo_relaxed.owl benign essential hypertension ICD9:401.1|UMLS:C0155583|DOID:10913|SCTID:1201005 owl:Class MONDO:0007765 biolink:NamedThing hyperostosis cranialis interna tmpak2llvmy_mondo_relaxed.owl HCIN|hyperostosis cranialis interna|hyperostosis cranialis interna (disease) hyperostosis cranialis interna (disease) ICD10:M85.2|OMIM:144755|HP:0005890|Orphanet:443098|MESH:C564168 owl:Class MONDO:0041526 biolink:NamedThing pregnancy disorder with abortive outcome tmpak2llvmy_mondo_relaxed.owl pregnancy with abortive outcome ICD10:O00.O08|SCTID:363681007 Editor note: consider obsoleting owl:Class UBERON:0003283 biolink:NamedThing mesentery of oesophagus A mesentery that is part of a esophagus [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl meso-esophagus|esophagus mesentery|mesentery of gullet|mesentery of esophagus|oesophagus mesentery|gullet mesentery owl:Class HGNC:28986 biolink:NamedThing ZNF592 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011486 biolink:NamedThing congenital muscular dystrophy 1B Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. tmpak2llvmy_mondo_relaxed.owl CMD1B|MDC1B|congenital muscular dystrophy type 1B|muscular dystrophy, congenital, 1B OMIM:604801|MESH:C565748|ICD10:G71.2|DOID:0110634|SCTID:764944006|Orphanet:98893|UMLS:C1858118 owl:Class MONDO:0010276 biolink:NamedThing radioulnar synostosis, radial ray abnormalities, and severe malformations in the male tmpak2llvmy_mondo_relaxed.owl radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE OMIM:300233|MESH:C564557|UMLS:C1846147 owl:Class MONDO:0007911 biolink:NamedThing lipoprotein, variant of beta tmpak2llvmy_mondo_relaxed.owl lipoprotein, variant of beta|Beta-lipoprotein, Double OMIM:152400 owl:Class MONDO:0009546 biolink:NamedThing macrosomia adiposa congenita tmpak2llvmy_mondo_relaxed.owl macrosomia adiposa congenita OMIM:248100|MESH:C565425|UMLS:C1855468 owl:Class MONDO:0011063 biolink:NamedThing hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia, hidrotic, Christianson-Fourie type|Christianson-Fourie syndrome MESH:C536180|OMIM:601375|ICD10:Q82.8|UMLS:C1832411|GARD:0002682|Orphanet:1808 https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type owl:Class HGNC:18129 biolink:NamedThing GHRL tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009013 biolink:NamedThing convulsive disorder, familial, with prenatal or early onset tmpak2llvmy_mondo_relaxed.owl convulsive disorder, familial, with prenatal or early onset MESH:C565678|UMLS:C1857575|OMIM:217200 owl:Class MONDO:0011864 biolink:NamedThing immunodeficiency, common variable, 1 tmpak2llvmy_mondo_relaxed.owl immunodeficiency, common variable, type 1|CVID1|antibody deficiency due to Icos defect|immunodeficiency, common variable, 1|immunodeficiency, common variable UMLS:C3149378|OMIM:607594 owl:Class MONDO:0054791 biolink:NamedThing leukodystrophy, hypomyelinating, 16 tmpak2llvmy_mondo_relaxed.owl HLD16|leukodystrophy, hypomyelinating, 16 UMLS:CN244907|OMIM:617964 owl:Class MONDO:0008183 biolink:NamedThing annular pancreas Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. tmpak2llvmy_mondo_relaxed.owl pancreas, annular NCIT:C98813|GARD:0000705|UMLS:C0149955|ICD10:Q45.1|OMIM:167750|Orphanet:675|MESH:C536376|DOID:0060850|SCTID:40315008|MedDRA:10071757 https://rarediseases.info.nih.gov/diseases/705/annular-pancreas owl:Class MONDO:0017504 biolink:NamedThing apodia, unilateral tmpak2llvmy_mondo_relaxed.owl congenital absence of foot, unilateral ICD10:Q72.3|Orphanet:295105 owl:Class MONDO:0018607 biolink:NamedThing combined hamartoma of the retina and retinal pigment epithelium tmpak2llvmy_mondo_relaxed.owl CHR-RPE|combined hamartoma of the retina and RPE UMLS:CN237641|Orphanet:440727|UMLS:C1862062 owl:Class MONDO:0013313 biolink:NamedThing ectodermal dysplasia-cutaneous syndactyly syndrome tmpak2llvmy_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome 2|EDSS2|EDCS Orphanet:247827|UMLS:C3150809|OMIM:613576|ICD10:Q82.8 owl:Class MONDO:0008735 biolink:NamedThing adrenocortical unresponsiveness to ACTH with postreceptor defect tmpak2llvmy_mondo_relaxed.owl familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect MESH:C565971|UMLS:C1859971|OMIM:202355 owl:Class MONDO:0010932 biolink:NamedThing progressive bifocal chorioretinal atrophy Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. tmpak2llvmy_mondo_relaxed.owl PBCRA|CRAPB|progressive bifocal chorioretinal atrophy|Crapb|chorioretinal atrophy, progressive bifocal Orphanet:75373|UMLS:C1833321|OMIM:600790|MESH:C535356|GARD:0010123|SCTID:719266007 https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy owl:Class MONDO:0004742 biolink:NamedThing primary cerebellar degeneration A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. tmpak2llvmy_mondo_relaxed.owl ICD9:334.2|DOID:9277|UMLS:C0033132|SCTID:23732000 owl:Class MONDO:0032812 biolink:NamedThing developmental and epileptic encephalopathy, 78 tmpak2llvmy_mondo_relaxed.owl EIEE78|DEE78|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78|epileptic encephalopathy, early infantile, 78 OMIM:618557 owl:Class UBERON:0011380 biolink:NamedThing female external urethral sphincter The external sphincter muscle of female urethra is a muscle which controls urination. tmpak2llvmy_mondo_relaxed.owl outer muscle layer of female urethra|striated muscle layer of female urethra|musculus sphincter urethrae externus (urethra feminina)|compressor urethrae|urethrovaginal sphincter|musculus sphincter urethrae externus urethrae femininae|external urethral sphincter of female urethra|rhabdosphincter of female urethra|sphincter urethrovaginalis owl:Class MONDO:0044625 biolink:NamedThing autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation tmpak2llvmy_mondo_relaxed.owl CMT2 due to DGAT2 mutation Orphanet:487814 owl:Class MONDO:0000450 biolink:NamedThing secondary progressive multiple sclerosis A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. tmpak2llvmy_mondo_relaxed.owl secondary-progressive MS|SPMS DOID:0050783|SCTID:425500002|EFO:0008522|UMLS:C0751965 owl:Class MONDO:0060732 biolink:NamedThing tetraamelia syndrome 2 tmpak2llvmy_mondo_relaxed.owl TETAMS2|tetraamelia syndrome 2 with pulmonary agenesis|tetraamelia syndrome 2 OMIM:618021 owl:Class MONDO:0010575 biolink:NamedThing deafness-hypogonadism syndrome This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. tmpak2llvmy_mondo_relaxed.owl deafness-hypogonadism syndrome|DHS|deafness hypogonadism syndrome GARD:0001691|MESH:C564435|OMIM:304350|Orphanet:90646 https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome owl:Class MONDO:0016451 biolink:NamedThing idiopathic hypersomnia with long sleep time Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia. tmpak2llvmy_mondo_relaxed.owl SCTID:442416002|ICD10:F51.1|UMLS:C2711059|ICD10:G47.11|ICD9:327.11|Orphanet:228315 owl:Class MONDO:0100410 biolink:NamedThing acute myeloid leukemia, t(16;21)(p11;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.) tmpak2llvmy_mondo_relaxed.owl AML, t(16;21)(p11.2;q22.2)|AML, t(16;21)(p11;q22) owl:Class MONDO:0008689 biolink:NamedThing dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema tmpak2llvmy_mondo_relaxed.owl Desiccytosis, hereditary|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|xerocytosis, hereditary|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|pseudohyperkalemia Edinburgh|DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema|dehydrated hereditary stomatocytosis|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|pseudohyperkalemia, familial, 1, due to Red cell leak|DHS1|DHS OMIM:194380|GARD:0010676 https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema owl:Class MONDO:0018604 biolink:NamedThing familial colorectal cancer type X Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. tmpak2llvmy_mondo_relaxed.owl FCCTX|familial colorectal cancer type X ICD10:C18.1|ICD10:C18.7|ICD10:C18.2|ICD10:C18.0|NCIT:C120084|ICD10:C18.5|ICD10:C18.4|UMLS:C3896578|Orphanet:440437|UMLS:CN237636|ICD10:C18.3|ICD10:C18.6 owl:Class MONDO:0054850 biolink:NamedThing ovarian dysgenesis 6 tmpak2llvmy_mondo_relaxed.owl ODG6|ovarian dysgenesis 6 OMIM:618078|DOID:0080498 owl:Class MONDO:0006680 biolink:NamedThing blue nevus An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. tmpak2llvmy_mondo_relaxed.owl blue Nevus of skin|Jadassohn-Tièche syndrome|Tièche-Jadassohn nevus|Jadassohn-TiC(che nevus|Jadassohn-Tièche nevus|blue nevus|blue neuronevus|blue skin Nevus|Jadassohn-TiC(che syndrome|benign mesenchymal melanoma|blue Nevus of the skin NCIT:C3803|SCTID:254806009|ICDO:8780/0|MedDRA:10062788|EFO:1000841|MESH:D018329|GARD:0008452 owl:Class MONDO:0024359 biolink:NamedThing central sleep apnea due to periodic breathing tmpak2llvmy_mondo_relaxed.owl central sleep apnea due to periodic breathing ICD9:327.27|UMLS:C3662057|ICD9:786.09|SCTID:85721000119105 owl:Class MONDO:0008639 biolink:NamedThing vascular helix of umbilical cord tmpak2llvmy_mondo_relaxed.owl vascular helix of umbilical cord OMIM:192300 owl:Class MONDO:0001637 biolink:NamedThing cicatricial entropion tmpak2llvmy_mondo_relaxed.owl SCTID:67383002|ICD9:374.04|DOID:13113|UMLS:C0155191 owl:Class MONDO:0030259 biolink:NamedThing pontocerebellar hypoplasia, type 15 tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 15|PCH15 OMIM:619302 owl:Class MONDO:0003647 biolink:NamedThing atrophic flaccid tympanic membrane tmpak2llvmy_mondo_relaxed.owl UMLS:C0155470|ICD10:H73.81|DOID:5781|SCTID:38645004|ICD9:384.81 owl:Class MONDO:0023201 biolink:NamedThing Fryns Smeets Thiry syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:2058|GARD:0002409 https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome owl:Class HGNC:6156 biolink:NamedThing ITGB3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009976 biolink:NamedThing retinal degeneration and epilepsy tmpak2llvmy_mondo_relaxed.owl retinal degeneration and epilepsy OMIM:267740|UMLS:C1849416|MESH:C564847 owl:Class HGNC:7421 biolink:NamedThing MT-CO2 tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:42458 biolink:NamedThing Lichtheimia corymbifera tmpak2llvmy_mondo_relaxed.owl Absidia corymbifera|Mucor corymbifer|Mycocladus corymbiferus|Mycocladus corymbifer GC_ID:1|PMID:17997297 NCBITaxon:2231641 ncbi_taxonomy owl:Class MONDO:0010525 biolink:NamedThing neural tube defects, X-linked tmpak2llvmy_mondo_relaxed.owl anencephaly and spina bifida X-linked|spina bifida, X-linked|neural tube defects, X-linked|X-linked anencephaly/spina bifida OMIM:301410|GARD:0000669|UMLS:C1845026|MESH:C536359 https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked owl:Class MONDO:0035349 biolink:NamedThing localized dystrophic epidermolysis bullosa A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance. tmpak2llvmy_mondo_relaxed.owl localized DEB Orphanet:595356 owl:Class MONDO:0011464 biolink:NamedThing spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia 11|spinocerebellar ataxia type 11|SCA11 OMIM:604432|UMLS:C4304886|SCTID:719207000|GARD:0010475|MESH:C565772|ICD10:G11.8|DOID:0050961|Orphanet:98767|UMLS:C1858351 owl:Class MONDO:0009127 biolink:NamedThing dwarfism, low-birth-weight type, with unresponsiveness to growth hormone tmpak2llvmy_mondo_relaxed.owl dwarfism, low-birth-weight type with unresponsiveness to growth hormone|dwarfism, low-birth-weight type, with unresponsiveness to growth hormone OMIM:223500|UMLS:C1857197|GARD:0003293|MESH:C565615 https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone owl:Class MONDO:0020853 biolink:NamedThing encephalitis/encephalopathy, mild, with reversible myelin vacuolization tmpak2llvmy_mondo_relaxed.owl MMERV|encephalitis/encephalopathy, mild, with reversible myelin vacuolization|Encephalitis/encephalopathy, mild, with reversible splenial lesion OMIM:618113 owl:Class MONDO:0033639 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 10 tmpak2llvmy_mondo_relaxed.owl MC4DN10 OMIM:619053 owl:Class MONDO:0017096 biolink:NamedThing isolated focal cortical dysplasia type Ia tmpak2llvmy_mondo_relaxed.owl FCD type Ia ICD10:Q04.8|Orphanet:268973|UMLS:CN202453 owl:Class MONDO:0001446 biolink:NamedThing low compliance bladder tmpak2llvmy_mondo_relaxed.owl hypertonicity of bladder|low bladder compliance|hyperactivity of bladder|hypertonic bladder SCTID:9009001|ICD9:596.52|UMLS:C0489967|DOID:12144 owl:Class MONDO:0017943 biolink:NamedThing autoerythrocyte sensitization syndrome tmpak2llvmy_mondo_relaxed.owl Autoerythrocyte sensitization purpura|painful bruising syndrome|psychogenic purpura|Gardner-Diamond syndrome|Autoerythrocyte sensitization|GDS SCTID:275446004|ICD10:D69.2|Orphanet:324636|UMLS:C0301928|ICD9:287.2|GARD:0006481|MESH:C535645 owl:Class NCBITaxon:1903410 biolink:NamedThing Pectobacteriaceae tmpak2llvmy_mondo_relaxed.owl PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0006136 biolink:NamedThing unmyelinated nerve fiber tmpak2llvmy_mondo_relaxed.owl non-myelinated nerve fiber owl:Class HGNC:10618 biolink:NamedThing CCL2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010976 biolink:NamedThing KRT14-related epidermolysis bullosa simplex KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. tmpak2llvmy_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive type 1|EBS-AR KRT14|epidermolysis bullosa simplex, autosomal recessive 1|EBSB1|EBS, autosomal recessive K14|KRT14-related autosomal recessive EBS|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related autosomal recessive epidermolysis bullosa simplex MESH:C563408|OMIM:601001|Orphanet:89838|ICD10:Q81.0 owl:Class MONDO:0026733 biolink:NamedThing intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type tmpak2llvmy_mondo_relaxed.owl MRXSHD|Mental Retardation, X-Linked, With Marfanoid Habitus, 2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE OMIM:301039 owl:Class HGNC:9479 biolink:NamedThing LONP1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017545 biolink:NamedThing zygodactyly type 4 tmpak2llvmy_mondo_relaxed.owl SD1, Castilla type|Zygodactyly, Castilla type|syndactyly type 1, Castilla type|SD1d|syndactyly type 1d Orphanet:295193|UMLS:CN203277|ICD10:Q70.3 owl:Class HGNC:11641 biolink:NamedThing TCF7L2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008178 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. tmpak2llvmy_mondo_relaxed.owl inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|muscular dystrophy, limb-girdle, with Paget disease of bone|multisystem proteinopathy 1|pagetoid amyotrophic lateral sclerosis|lower motor neuron degeneration with Paget-like bone disease|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|IBMPFD1 NCIT:C122663|MESH:C563476|DOID:0111385|OMIM:167320 owl:Class MONDO:0032690 biolink:NamedThing microcephaly, growth deficiency, seizures, and brain malformations tmpak2llvmy_mondo_relaxed.owl MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS|MIGSB OMIM:618346 owl:Class MONDO:0004780 biolink:NamedThing strictly posterior acute myocardial infarction tmpak2llvmy_mondo_relaxed.owl DOID:9407|ICD9:410.60 owl:Class MONDO:0004274 biolink:NamedThing mixed epithelial/mesenchymal metaplastic breast carcinoma An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. tmpak2llvmy_mondo_relaxed.owl mixed type metaplastic breast cancer|breast carcinosarcoma UMLS:C1513365|NCIT:C40364|DOID:7541|ONCOTREE:MMBC owl:Class MONDO:0014416 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 2 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. tmpak2llvmy_mondo_relaxed.owl ACTH-independent macronodular adrenal hyperplasia 2|ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|AIMAH2|primary macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia type 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5 DOID:0111624|OMIM:615954|UMLS:C4014803 owl:Class MONDO:0009778 biolink:NamedThing olivopontocerebellar atrophy II, autosomal recessive tmpak2llvmy_mondo_relaxed.owl olivopontocerebellar atrophy II, autosomal recessive|OPCA II, Fickler-Winkler type UMLS:C1850319|OMIM:258300|MESH:C564930 owl:Class HGNC:24717 biolink:NamedThing PTCD3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003921 biolink:NamedThing posterior foramen magnum meningioma A meningioma that affects the posterior foramen magnum. tmpak2llvmy_mondo_relaxed.owl meningioma of posterior Foramen magnum|meningioma of the posterior Foramen magnum DOID:6553|UMLS:C1335449|NCIT:C5282 owl:Class MONDO:0003051 biolink:NamedThing non specific chronic endometritis Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. tmpak2llvmy_mondo_relaxed.owl non specific chronic endometritis NCIT:C27625|DOID:4560|UMLS:C1335061 owl:Class MONDO:0009537 biolink:NamedThing lymphoid interstitial pneumonia Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. tmpak2llvmy_mondo_relaxed.owl lymphocytic interst. pneumonitis|LIP|lymphocytic interstitial pneumonia|lymphocytic interstitial pneumonitis|lymphoid interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue UMLS:C0264511|ICD9:516.8|OMIM:247610|MESH:C562489|NCIT:C27558|ICD10:J84.2|Orphanet:79128|SCTID:44274007|ICD10:J84.1|MedDRA:10062997|DOID:0050159 owl:Class MONDO:0054763 biolink:NamedThing neurodegeneration with brain iron accumulation 7 tmpak2llvmy_mondo_relaxed.owl NBIA7|neurodegeneration with brain iron accumulation 7 UMLS:CN895590|OMIM:617916 owl:Class UBERON:0010355 biolink:NamedThing ossification center The first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed a ossification center, enlarge and arrange themselves in rows. The matrix in which they are imbedded increases in quantity, so that the cells become further separated from each other. A deposit of calcareous material now takes place in this matrix, between the rows of cells, so that they become separated from each other by longitudinal columns of calcified matrix, presenting a granular and opaque appearance. Here and there the matrix between two cells of the same row also becomes calcified, and transverse bars of calcified substance stretch across from one calcareous column to another. Thus there are longitudinal groups of the cartilage cells enclosed in oblong cavities, the walls of which are formed of calcified matrix which cuts off all nutrition from the cells; the cells, in consequence, atrophy, leaving spaces called the primary areolC&. tmpak2llvmy_mondo_relaxed.owl centrum ossificationis|ossification centre|center of ossification owl:Class MONDO:0012158 biolink:NamedThing keratoconus 2 tmpak2llvmy_mondo_relaxed.owl keratoconus 2|KTCN2 MESH:C563827|OMIM:608932|UMLS:C1837090 owl:Class MONDO:0030054 biolink:NamedThing developmental and epileptic encephalopathy, 86 tmpak2llvmy_mondo_relaxed.owl EIEE86|DEE86|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86|epileptic encephalopathy, early infantile, 86 OMIM:618910 owl:Class MONDO:0032573 biolink:NamedThing bone marrow failure syndrome 5 tmpak2llvmy_mondo_relaxed.owl BMFS5|BONE MARROW FAILURE SYNDROME 5 OMIM:618165 owl:Class MONDO:0008135 biolink:NamedThing optic atrophy 13 with retinal and foveal abnormalities tmpak2llvmy_mondo_relaxed.owl optic atrophy with negative Electroretinograms|optic atrophy 13 with retinal and foveal abnormalities MESH:C563494|UMLS:C1833799|OMIM:165510 owl:Class HP:0001387 biolink:NamedThing Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. tmpak2llvmy_mondo_relaxed.owl Joint stiffness|Stiff joint|Stiff joints SNOMEDCT_US:84445001|UMLS:C0162298 HP:0002775|HP:0003033 human_phenotype owl:Class HGNC:25676 biolink:NamedThing GORAB tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0007599 biolink:NamedThing factor 9 and Factor XI, combined deficiency of tmpak2llvmy_mondo_relaxed.owl multiple coagulation Factor deficiency 6|factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6 MESH:C565022|OMIM:134540|UMLS:C1851374 owl:Class MONDO:0023510 biolink:NamedThing Jaffer-Beighton syndrome tmpak2llvmy_mondo_relaxed.owl arachnodactyly, joint laxity, and spondylolisthesis|Jaffer Beighton syndrome GARD:0003040|MESH:C537561|UMLS:C2931533 https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome owl:Class MONDO:0100390 biolink:NamedThing acute myeloid leukemia, der12p Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).) tmpak2llvmy_mondo_relaxed.owl AML, der12p|AML, der(12p) owl:Class HGNC:9403 biolink:NamedThing PRKCH tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010440 biolink:NamedThing autism, susceptibility to, X-linked 4 tmpak2llvmy_mondo_relaxed.owl autism, susceptibility to, X-linked type 4|X-linked susceptibility to autism-4|autism, susceptibility to, X-linked 4|AUTSX4|susceptibility to autism, X-linked|chromosome Xp22 deletion syndrome|susceptibility to X-linked autism 4 GARD:0003775|OMIM:300830 https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4 owl:Class MONDO:0015672 biolink:NamedThing diprosopus Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases. tmpak2llvmy_mondo_relaxed.owl Diprosopia|craniofacial duplication GARD:0001876|SCTID:62192003|Orphanet:1681 owl:Class MONDO:0002959 biolink:NamedThing radiculopathy Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. tmpak2llvmy_mondo_relaxed.owl nerve root disorder UMLS:C0700594|MESH:D011843|SCTID:72274001|DOID:4306|ICD10:M54.1|ICD10:M54.10 Editor note: DO classifies under polyradiculopathy, which we invert owl:Class MONDO:0008672 biolink:NamedThing Watson syndrome Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. tmpak2llvmy_mondo_relaxed.owl WTSN|pulmonic stenosis with cafe-Au-lait Spots|cafe-Au-lait Spots with pulmonic stenosis|Watson syndrome Orphanet:3444|OMIM:193520|SCTID:403820003|ICD9:709.8|GARD:0005540|UMLS:CN204429 https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome owl:Class MONDO:0001391 biolink:NamedThing indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. tmpak2llvmy_mondo_relaxed.owl indeterminate leprosy [group I]|uncharacteristic leprosy DOID:11851|SCTID:14386001|ICD9:030.2|UMLS:C0021192|ICD10:A30.0 owl:Class MONDO:0001533 biolink:NamedThing pes anserinus tendinitis or bursitis tmpak2llvmy_mondo_relaxed.owl ICD9:726.61|DOID:12475 owl:Class NCBITaxon:5598 biolink:NamedThing Alternaria tmpak2llvmy_mondo_relaxed.owl PMID:24014900|GC_ID:1 NCBITaxon:645883 ncbi_taxonomy owl:Class MONDO:0012768 biolink:NamedThing prostate cancer, hereditary, 11 tmpak2llvmy_mondo_relaxed.owl HPC11|prostate cancer, hereditary, 11 MESH:C567449|UMLS:C2677773|OMIM:611955 owl:Class MONDO:0002388 biolink:NamedThing intracystic papillary adenoma A papillary epithelial neoplasm arising in a cystically dilated breast duct. tmpak2llvmy_mondo_relaxed.owl intracystic papillary adenoma (morphologic abnormality)|intracystic papillary adenoma|intracystic papilloma UMLS:C0334374|DOID:2682|NCIT:C4191|ICDO:8504/0 owl:Class MONDO:0020785 biolink:NamedThing capillary malformation-arteriovenous malformation 2 tmpak2llvmy_mondo_relaxed.owl CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2|CMAVM2 OMIM:618196 owl:Class MONDO:0032770 biolink:NamedThing intellectual developmental disorder with severe speech and ambulation defects tmpak2llvmy_mondo_relaxed.owl IDDSSAD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS OMIM:618470 owl:Class MONDO:0007529 biolink:NamedThing elastosis perforans serpiginosa tmpak2llvmy_mondo_relaxed.owl Miescher elastoma|elastoma Intrapapillare perforans verruciformis|elastosis perforans serpiginosa|eps MESH:C536202|MedDRA:10014338|GARD:0010103|SCTID:49428008|ICD10:L87.2|UMLS:C0221271|OMIM:130100|Orphanet:79148 Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa owl:Class MONDO:0005482 biolink:NamedThing molar-incisor hypomineralization A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors tmpak2llvmy_mondo_relaxed.owl ICD9:520.5|SCTID:698053001|EFO:0005321 owl:Class MONDO:0033371 biolink:NamedThing developmental and epileptic encephalopathy, 62 tmpak2llvmy_mondo_relaxed.owl EIEE62|DEE62|epileptic encephalopathy, early infantile, 62 OMIM:617938|DOID:0080420|UMLS:CN244551 owl:Class MONDO:0003968 biolink:NamedThing asynchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. tmpak2llvmy_mondo_relaxed.owl asynchronous multifocal osteosarcoma NCIT:C6472|DOID:6697|UMLS:C1332342 owl:Class MONDO:0004367 biolink:NamedThing petroclival meningioma A meningioma that affects the petroclival region. tmpak2llvmy_mondo_relaxed.owl UMLS:C1335395|DOID:7818|NCIT:C5278 owl:Class MONDO:0009207 biolink:NamedThing factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor tmpak2llvmy_mondo_relaxed.owl factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor|factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor UMLS:C1856882|OMIM:227310 owl:Class ENVO:01000034 biolink:NamedThing oceanic sea surface microlayer biome The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpak2llvmy_mondo_relaxed.owl owl:Class OIO:Subset biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012214 biolink:NamedThing glucocorticoid deficiency 3 tmpak2llvmy_mondo_relaxed.owl glucocorticoid deficiency 3|glucocorticoid deficiency 2|familial glucocorticoid deficiency 3|glucocorticoid deficiency 2, formerly|GCCD3 OMIM:609197|UMLS:C1836621 owl:Class MONDO:0060457 biolink:NamedThing autoinflammation with arthritis and dyskeratosis tmpak2llvmy_mondo_relaxed.owl AIADK|AUTOINFLAMMATION with arthritis and dyskeratosis OMIM:617388 owl:Class MONDO:0043349 biolink:NamedThing intravascular papillary endothelial hyperplasia A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present. tmpak2llvmy_mondo_relaxed.owl masson's pseudosarcoma|Masson's vegetant hemangioma|Masson's vegetant intravascular hemangio-endothelioma|papillary endothelial hyperplasia|Masson pseudotumor|Masson's pseudotumor|intravascular papillary endothelial hyperplasia|Masson's pseudosarcoma|Masson lesion|Masson's pseudoangiosarcoma|Masson's tumor UMLS:C0343083|SCTID:238770007|NCIT:C4391|GARD:0010733 owl:Class MONDO:0032646 biolink:NamedThing congenital anomalies of kidney and urinary tract 3 tmpak2llvmy_mondo_relaxed.owl CAKUT3|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 OMIM:618270 owl:Class HGNC:19353 biolink:NamedThing SIN3A tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009412 biolink:NamedThing scurvy Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. tmpak2llvmy_mondo_relaxed.owl deficiency of vitamin C|hypoascorbemia|scorbutus|L-gulonolactone oxidase, nonfunctional|scurvy|vitamin C, inability to synthesize|L-gulonolactone oxidase pseudogene|Gulo, nonfunctional|vitamin C deficiency MESH:D012614|NCIT:C35010|ICD10:E54|UMLS:C0036474|DOID:13724|MedDRA:10039768|EFO:1001169|GARD:0010406|OMIM:240400 An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. https://rarediseases.info.nih.gov/diseases/10406/scurvy owl:Class MONDO:0012082 biolink:NamedThing asperger syndrome, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 1|ASPG1 OMIM:608638|UMLS:C1837646 owl:Class MONDO:0015811 biolink:NamedThing primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. tmpak2llvmy_mondo_relaxed.owl Berti lymphoma|primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma SCTID:765136002|Orphanet:178528|ICD10:C84.4 owl:Class MONDO:0008613 biolink:NamedThing Tuftsin deficiency tmpak2llvmy_mondo_relaxed.owl Tuftsin deficiency ICD9:279.03|UMLS:C0398741|SCTID:234584007|OMIM:191150|MESH:C562872 owl:Class ECTO:7000114 biolink:NamedThing exposure to aerosol A exposure event involving the interaction of an exposure receptor to aerosol. tmpak2llvmy_mondo_relaxed.owl aerosol exposure owl:Class NBO:0000612 biolink:NamedThing communication behavior "A social behavior related to the activity of conveying information." [wikipedia:Communication] tmpak2llvmy_mondo_relaxed.owl signal exchange|communicating owl:Class MONDO:0030298 biolink:NamedThing angioedema, hereditary, 8 tmpak2llvmy_mondo_relaxed.owl angioedema, hereditary, 8|HAE8 OMIM:619367 owl:Class MONDO:0018664 biolink:NamedThing ectopia cordis A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations. tmpak2llvmy_mondo_relaxed.owl ectopia cordis (disease)|ectopia cordis ectopia cordis (disease) ICD10:Q24.8|MESH:D054083|ICD9:746.87|NCIT:C111643|SCTID:78250005|HP:0001683|Orphanet:448270 owl:Class MONDO:0022470 biolink:NamedThing aortic dissection lentiginosis A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. tmpak2llvmy_mondo_relaxed.owl GARD:0000742 https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis owl:Class HGNC:2260 biolink:NamedThing COX10 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100026 biolink:NamedThing myoclonic encephalopathy in non-progressive disorder This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen. tmpak2llvmy_mondo_relaxed.owl 2018-06-22 23:56:39+00:00 owl:Class MONDO:0011815 biolink:NamedThing hypertension, essential, susceptibility to, 3 tmpak2llvmy_mondo_relaxed.owl hypertension, essential, susceptibility to, type 3|hypertension, essential, susceptibility to, 3|Hyt3 OMIM:607329|UMLS:C1846430 owl:Class MONDO:0008385 biolink:NamedThing rhiny tmpak2llvmy_mondo_relaxed.owl rhiny|craniorhiny OMIM:180360|MESH:C566708 owl:Class MONDO:0003712 biolink:NamedThing angiokeratoma of mibelli tmpak2llvmy_mondo_relaxed.owl SCTID:62727008|UMLS:C0263640|NCIT:C3927|DOID:5948 owl:Class MONDO:0032777 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 10 tmpak2llvmy_mondo_relaxed.owl GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10|Gefs+, Type 10|GEFSP10 OMIM:618482|DOID:0111296 owl:Class MONDO:0017237 biolink:NamedThing hereditary sensorimotor neuropathy with hyperelastic skin tmpak2llvmy_mondo_relaxed.owl ICD10:G60.0|Orphanet:280598|GARD:0011010|UMLS:CN202738 https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin owl:Class MONDO:0008849 biolink:NamedThing atrophoderma vermiculata tmpak2llvmy_mondo_relaxed.owl ava|Atrophodermia reticulata|Atrophodermia reticulata symmetrica faciei|Atrophodermia vermiculata|folliculitis ulerythematosa|honeycomb atrophy|folliculitis ulerythematosa reticulate|atrophoderma vermiculatum|folliculitis ulerythematosa reticulata|atrophoderma vermiculata Orphanet:79100|ICD10:L66.4|OMIM:209700|ICD9:701.8|GARD:0009744|SCTID:2736005 https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata owl:Class MONDO:0006692 biolink:NamedThing central pontine myelinolysis A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. tmpak2llvmy_mondo_relaxed.owl osmotic demyelination syndrome MESH:D017590|NCIT:C84623|ICD9:341.8|ICD10:G37.2|SCTID:6807001|DOID:636|UMLS:C0206083|EFO:1000857|GARD:0008749|MedDRA:10007968 owl:Class MONDO:0009810 biolink:NamedThing autosomal recessive distal osteolysis syndrome Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. tmpak2llvmy_mondo_relaxed.owl distal osteolysis-short stature-intellectual disability syndrome|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|osteolysis syndrome recessive|osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|Petit-Fryns syndrome|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis syndrome, recessive OMIM:259610|MESH:C536052|Orphanet:2776|UMLS:C4275111|GARD:0004144|UMLS:C1850143|SCTID:715487005|GARD:0004299 owl:Class CL:0002543 biolink:NamedThing vein endothelial cell An endothelial cell that is part of the vein. tmpak2llvmy_mondo_relaxed.owl venous endothelial cell|endothelial cell of vein FMA:62104|KUPO:0001099 tmeehan 2011-02-28T03:48:11Z CL:1000393 cell owl:Class MONDO:0031009 biolink:NamedThing Glanzmann thrombasthenia 2 tmpak2llvmy_mondo_relaxed.owl Glanzmann thrombasthenia 2|bleeding disorder, platelet-type, 23|GT2 OMIM:619267 owl:Class NCBITaxon:163158 biolink:NamedThing Xenopsylla tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001725 biolink:NamedThing balanitis xerotica obliterans A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. tmpak2llvmy_mondo_relaxed.owl penile lichen Sclerosus|lichen Sclerosus of the penis|lichen Sclerosus of penis SCTID:198033005|DOID:13477|NCIT:C3523|UMLS:C0152460|ICD9:607.81 owl:Class HGNC:11495 biolink:NamedThing SYN2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032601 biolink:NamedThing inflammatory bowel disease, immunodeficiency, and encephalopathy tmpak2llvmy_mondo_relaxed.owl INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY|IBDIMDE OMIM:618213|Orphanet:565788 owl:Class MONDO:0015050 biolink:NamedThing esophageal duplication cyst Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported. tmpak2llvmy_mondo_relaxed.owl ICD10:Q39.8|Orphanet:100047|SCTID:721161005 owl:Class UBERON:0005670 biolink:NamedThing greater omentum mesothelium A mesothelium that is part of a greater omentum. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0003682 biolink:NamedThing localized chondrosarcoma A non-disseminated skeletal or extraskeletal chondrosarcoma. tmpak2llvmy_mondo_relaxed.owl localized chondrosarcoma|chondrosarcoma, localized NCIT:C8778|UMLS:C0855011|DOID:5862 owl:Class MONDO:0007941 biolink:NamedThing malocclusion due to protuberant upper front teeth tmpak2llvmy_mondo_relaxed.owl malocclusion due to protuberant upper front teeth OMIM:154300 owl:Class MONDO:0018583 biolink:NamedThing human infection by orthopoxvirus tmpak2llvmy_mondo_relaxed.owl ICD10:B08.0|Orphanet:438279|UMLS:CN237612 owl:Class MONDO:0017180 biolink:NamedThing 10q22.3q23.3 microduplication syndrome tmpak2llvmy_mondo_relaxed.owl dup(10)(q22.3q23.3)|trisomy 10q22.3q23.3 ICD10:Q92.3|UMLS:CN202619|Orphanet:276422 owl:Class MONDO:0007861 biolink:NamedThing isolated cloverleaf skull syndrome Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. tmpak2llvmy_mondo_relaxed.owl Kleeblattschaedel deformity syndrome|Kleeblattschaedel syndrome|Kleeblattschadel|isolated cloverleaf skull syndrome|cloverleaf skull|Kleeblattschaedel-deformity syndrome|cloverleaf skull syndrome|KLEEBLATTSCHAEDEL MESH:C536884|SCTID:254022009|OMIM:148800|ICD10:Q75.0|UMLS:CN201565|GARD:0003115|Orphanet:2343 https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome owl:Class MONDO:0011761 biolink:NamedThing autosomal dominant nonsyndromic deafness 21 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3. tmpak2llvmy_mondo_relaxed.owl autosomal dominant deafness 21|DFNA21|deafness, autosomal dominant 21|autosomal dominant nonsyndromic deafness type 21 ICD10:H90.3|UMLS:C1846922|OMIM:607017|DOID:0110551|MESH:C564634 owl:Class MONDO:0018611 biolink:NamedThing early-onset lamellar cataract tmpak2llvmy_mondo_relaxed.owl UMLS:CN237647|Orphanet:441452 owl:Class MONDO:0016439 biolink:NamedThing elastoderma Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery. tmpak2llvmy_mondo_relaxed.owl ICD9:701.8|SCTID:238832003|GARD:0012716|UMLS:C0406555|Orphanet:228240 https://rarediseases.info.nih.gov/diseases/12716/elastoderma owl:Class MONDO:0017695 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form tmpak2llvmy_mondo_relaxed.owl GBE deficiency, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|GSD type 4, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis type 4, progressive hepatic form|GSDIV, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|glycogenosis type IV, progressive hepatic form|glycogen storage disease type IV, progressive hepatic form ICD10:E74.0|UMLS:CN203594|Orphanet:308621 owl:Class MONDO:0018268 biolink:NamedThing Medich giant platelet syndrome Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. tmpak2llvmy_mondo_relaxed.owl Medich macrothrombocytopenia UMLS:C4305375|Orphanet:370127|ICD10:D69.1|UMLS:CN204847|SCTID:718554005 owl:Class NCBITaxon:11053 biolink:NamedThing Dengue virus 1 tmpak2llvmy_mondo_relaxed.owl type 1 dengue virus DEN-1|dengue virus type I|dengue type 1 D1 virus|dengue virus-1 DEN-1|dengue virus type 1 DEN1|Dengue virus type 1 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004242 biolink:NamedThing active peptic ulcer disease tmpak2llvmy_mondo_relaxed.owl GI bleeding SCTID:74474003|ICD9:578.9|DOID:749 owl:Class MONDO:0008427 biolink:NamedThing sister chromatid exchange, frequency of tmpak2llvmy_mondo_relaxed.owl sister chromatid exchange, frequency of|SCE, frequency of OMIM:182220 owl:Class MONDO:0012896 biolink:NamedThing psoriasis 10, susceptibility to tmpak2llvmy_mondo_relaxed.owl PSORS10|psoriasis 10, susceptibility to DOID:0111289|OMIM:612410 owl:Class MONDO:0020661 biolink:NamedThing undifferentiated round cell sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio. tmpak2llvmy_mondo_relaxed.owl undifferentiated round cell sarcoma NCIT:C121799 owl:Class MONDO:0007725 biolink:NamedThing hereditary progressive mucinous histiocytosis Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. tmpak2llvmy_mondo_relaxed.owl histiocytosis, progressive mucinous MESH:C564186|ICD10:D76.3|OMIM:142630|Orphanet:158025|UMLS:C1840586 owl:Class MONDO:0008255 biolink:NamedThing platelet factor 3 deficiency tmpak2llvmy_mondo_relaxed.owl platelet factor 3 deficiency OMIM:173450|MESH:C566798|UMLS:C1868256 owl:Class MONDO:0012311 biolink:NamedThing spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness tmpak2llvmy_mondo_relaxed.owl spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness UMLS:C1865022|MESH:C566507|OMIM:609616 owl:Class GO:0004563 biolink:NamedThing beta-N-acetylhexosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. tmpak2llvmy_mondo_relaxed.owl beta-acetylaminodeoxyhexosidase activity|beta-hexosaminidase activity|N-acetyl-beta-D-hexosaminidase activity|N-acetylhexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-D-hexosaminidase activity|N-acetyl-beta-hexosaminidase activity|beta-N-acetyl-D-hexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|N-acetyl-beta-glucosaminidase activity|hexosaminidase A|beta-acetylhexosaminidinase activity owl:Class MONDO:0005348 biolink:NamedThing keloid An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. tmpak2llvmy_mondo_relaxed.owl MESH:D007627|NCIT:C3145|ICD9:701.4|EFO:0004212|SCTID:33659008 owl:Class MONDO:0009138 biolink:NamedThing dysosteosclerosis Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. tmpak2llvmy_mondo_relaxed.owl dysosteosclerosis Orphanet:1782|OMIM:224300|SCTID:254123002|MESH:C562973|ICD10:Q78.8|UMLS:C0432262|GARD:0002012|ICD9:756.9 https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis owl:Class MONDO:0017584 biolink:NamedThing Sagliker syndrome A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face tmpak2llvmy_mondo_relaxed.owl UMLS:CN203388|Orphanet:300493 owl:Class MONDO:0019759 biolink:NamedThing epispadias Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. tmpak2llvmy_mondo_relaxed.owl epispadias (disease)|epispadias epispadias (disease) ICD9:752.62|HP:0000039|MedDRA:10015088|Orphanet:93928|ICD10:Q64.0|UMLS:C0014588|MESH:D004842|SCTID:406476007|UMLS:CN227686|NCIT:C98923 owl:Class MONDO:0018169 biolink:NamedThing morning glory syndrome Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. tmpak2llvmy_mondo_relaxed.owl Volubilis syndrome|Ectasic coloboma Orphanet:35737|ICD10:Q14.2|UMLS:C0549307|GARD:0013354|MedDRA:10027974 https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome owl:Class MONDO:0001455 biolink:NamedThing retinal lattice degeneration tmpak2llvmy_mondo_relaxed.owl palisade degeneration of retina ICD10:H35.41|SCTID:3577000|UMLS:C0154856|DOID:12165|ICD9:362.63 owl:Class MONDO:0010978 biolink:NamedThing portal vein, cavernous transformation of tmpak2llvmy_mondo_relaxed.owl portal vein, cavernous transformation of UMLS:C1832917|MESH:C563407|OMIM:601004 owl:Class GO:0001067 biolink:NamedThing transcription regulatory region nucleic acid binding Binding to a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair. tmpak2llvmy_mondo_relaxed.owl regulatory region nucleic acid binding owl:Class MONDO:0010855 biolink:NamedThing short tarsus-absence of lower eyelashes syndrome Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. tmpak2llvmy_mondo_relaxed.owl short tarsus with absence of LOWER eyelashes|Lopes Gorlin syndrome|stale|short tarsus absence of lower eyelashes|Lopes-Gorlin syndrome Orphanet:2832|GARD:0000296|UMLS:C1838328|SCTID:721075001|OMIM:600269|ICD10:Q87.2|MESH:C537036 owl:Class MONDO:0008854 biolink:NamedThing Bardet-Biedl syndrome 1 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. tmpak2llvmy_mondo_relaxed.owl BBS1|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome type 1 OMIM:209900|EFO:0009021|ICD10:Q87.89|MESH:C537909|GARD:0000820|UMLS:C2936862|DOID:0110123 owl:Class MONDO:0007867 biolink:NamedThing nonsyndromic congenital nail disorder 2 tmpak2llvmy_mondo_relaxed.owl spoon nails|hereditary koilonychia|congenital koilonychia|NDNC2|nonsyndromic congenital nail disorder type 2|nail disorder, nonsyndromic congenital, 2|familial koilonychia|Koilonychia with leukonychia|Koilonychia, hereditary ICD9:703.8|SCTID:66270006|OMIM:149300|DOID:0080080|GARD:0009760|MESH:C537260 owl:Class NCBITaxon:2509487 biolink:NamedThing Igacovirus tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020767 biolink:NamedThing cauda equina syndrome with neurogenic bladder A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. tmpak2llvmy_mondo_relaxed.owl cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder|Cauda equina syndrome with neurogenic bladder NCIT:C34453|UMLS:C0007459|ICD9:344.61|SCTID:12454008 owl:Class MONDO:0012772 biolink:NamedThing Stevenson-Carey syndrome tmpak2llvmy_mondo_relaxed.owl Stevenson-Carey syndrome UMLS:C2677763|OMIM:611961|MESH:C567446 owl:Class MONDO:0009505 biolink:NamedThing lactic aciduria due to D-lactic acid tmpak2llvmy_mondo_relaxed.owl lactic aciduria due to d-lactic acid MESH:C565446|UMLS:C1855552|OMIM:245450 owl:Class MONDO:0100103 biolink:NamedThing fetal akinesia deformation sequence 3 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene. tmpak2llvmy_mondo_relaxed.owl FADS3 DOID:0111376|OMIM:618389 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011450 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 1 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. tmpak2llvmy_mondo_relaxed.owl breast-ovarian cancer, familial, susceptibility to, type 1|BRCA1 hereditary breast ovarian cancer syndrome|BROVCA1|breast-ovarian cancer, familial, susceptibility to, 1|breast cancer, familial, susceptibility to, 1|ovarian cancer, familial, susceptibility to, 1|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|susceptibility to familial breast-ovarian cancer 1 OMIM:604370 owl:Class MONDO:0032904 biolink:NamedThing corneal dystrophy, Meesmann, 2 tmpak2llvmy_mondo_relaxed.owl CORNEAL DYSTROPHY, MEESMANN, 2|MECD2 OMIM:618767 owl:Class MONDO:0033641 biolink:NamedThing cleft palate, proliferative retinopathy, and developmental delay tmpak2llvmy_mondo_relaxed.owl CPPRDD OMIM:619074 owl:Class MONDO:0012636 biolink:NamedThing restless legs syndrome, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl restless legs syndrome, susceptibility to, 6|RLS6|periodic limb movements in sleep OMIM:611185|GARD:0010273 owl:Class MONDO:0021929 biolink:NamedThing traumatic myositis ossificans Myositis Ossificans resulting from trauma. tmpak2llvmy_mondo_relaxed.owl Myositis ossificans circumscripta|Traumatic Myositis Ossificans|myositis ossificans traumatica|Traumatic myositis ossificans|myositis ossificans circumscripta|Myositis ossificans traumatica|traumatic myositis ossificans UMLS:C0040798|NCIT:C35081|SCTID:70917000|ICD9:728.12 owl:Class MONDO:0013919 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 12 tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, type 12|epilepsy, idiopathic generalized, susceptibility to, 12|EIG12|susceptibility to idiopathic generalized epilepsy 12 DOID:0111313|OMIM:614847 owl:Class MONDO:0001864 biolink:NamedThing residual stage angle-closure glaucoma tmpak2llvmy_mondo_relaxed.owl residual stage of angle-closure glaucoma ICD9:365.24|ICD10:H40.24|SCTID:55129006|DOID:1404|UMLS:C0154948 owl:Class MONDO:0015814 biolink:NamedThing primary cutaneous follicle center lymphoma A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin. tmpak2llvmy_mondo_relaxed.owl cutaneous follicle centre lymphoma|PCFCL|Crosti's disease|Reticulohistiocytoma of the dorsum|cutaneous follicle center lymphoma UMLS:C1333171|Orphanet:178540|SCTID:404143002|NCIT:C7217|ONCOTREE:PCFCL|ICDO:9597/3|ICD10:C82.6 owl:Class MONDO:0060670 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 25 tmpak2llvmy_mondo_relaxed.owl amyotrophic lateral sclerosis, susceptibility to, 25|ALS25 UMLS:CN895594|OMIM:617921 owl:Class MONDO:0022196 biolink:NamedThing chronic erosive gastritis tmpak2llvmy_mondo_relaxed.owl diffuse varioliform gastritis|ceg - chronic erosive gastritis|chronic erosive gastritis|varioliform gastritis|idiopathic chronic, erosive gastritis SCTID:63137003|GARD:0006099|UMLS:C0267145|ICD9:535.40 https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis owl:Class MONDO:0006430 biolink:NamedThing splenic mantle cell lymphoma A mantle cell lymphoma occurring in the spleen. tmpak2llvmy_mondo_relaxed.owl splenic mantle cell lymphoma UMLS:C2018777|EFO:1000549|NCIT:C7306 owl:Class MONDO:0006614 biolink:NamedThing subcorneal pustular dermatosis A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. tmpak2llvmy_mondo_relaxed.owl Sneddon-Wilkinson disease or syndrome|Sneddon-Wilkinson disease|subcorneal pustular dermatosis|subcorneal pustular dermatitis|pustulosis subcornealis SCTID:25147002|ICD9:694.1|MedDRA:10042342|UMLS:C0600336|EFO:1000771|DOID:8508|ICD10:L13.1|Orphanet:48377 owl:Class MONDO:0018136 biolink:NamedThing minimal pigment oculocutaneous albinism type 1 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. tmpak2llvmy_mondo_relaxed.owl OCA1-MP|MP OCA type 1 UMLS:CN204521|ICD10:E70.3|ICD9:270.2|SCTID:237919007|Orphanet:352734 owl:Class MONDO:0012260 biolink:NamedThing cataract 35 A cataract that has material basis in variation in the region 19q13. tmpak2llvmy_mondo_relaxed.owl CATCN1|autosomal recessive congenital nuclear cataract 1|CTRCT35|cataract type 35|cataract 35|cataract 35, congenital nuclear|cataract, congenital nuclear, autosomal recessive 1 DOID:0110261|MESH:C563728|ICD10:Q12.0|OMIM:609376|UMLS:C1836272 owl:Class MONDO:0008285 biolink:NamedThing polyps, multiple and recurrent inflammatory fibroid, gastrointestinal tmpak2llvmy_mondo_relaxed.owl polyps, multiple and recurrent inflammatory fibroid, gastrointestinal UMLS:C1868000|OMIM:175510|MESH:C566774 owl:Class MONDO:0032836 biolink:NamedThing weiss-kruszka syndrome tmpak2llvmy_mondo_relaxed.owl WEISS-KRUSZKA SYNDROME|weiss-kruszka syndrome|WSKA OMIM:618619 owl:Class GO:0009135 biolink:NamedThing purine nucleoside diphosphate metabolic process The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. tmpak2llvmy_mondo_relaxed.owl purine nucleoside diphosphate metabolism owl:Class MONDO:0019607 biolink:NamedThing unspecified juvenile idiopathic arthritis Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. tmpak2llvmy_mondo_relaxed.owl unspecified JIA Orphanet:91140|ICD10:M08.8 owl:Class MONDO:0009935 biolink:NamedThing pulmonary hypertension, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl pulmonary hypertension, primary, autosomal recessive MESH:C564862|OMIM:265400|UMLS:C1849552 owl:Class MONDO:0003618 biolink:NamedThing pyosalpinx The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. tmpak2llvmy_mondo_relaxed.owl pyosalpingitis NCIT:C34968|UMLS:C0034220|DOID:5732|ICD10:N70|SCTID:397810006 owl:Class MONDO:0022779 biolink:NamedThing cleft lip palate oligodontia syndactyly pili torti tmpak2llvmy_mondo_relaxed.owl GARD:0001381 https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti owl:Class HGNC:9594 biolink:NamedThing PTGER2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100066 biolink:NamedThing TH-deficient progressive infantile encephalopathy A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias. tmpak2llvmy_mondo_relaxed.owl tyrosine hydroxylase-deficient progressive infantile encephalopathy 2018-11-10 00:10:46+00:00 owl:Class MONDO:0016454 biolink:NamedThing severe early-onset axonal neuropathy due to NEFL deficiency Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. tmpak2llvmy_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|AR-CMT2B5|autosomal recessive Charcot-Marie-Tooth disease type 2B5 ICD10:G60.0|Orphanet:228374 owl:Class MONDO:0016550 biolink:NamedThing congenital primary megaureter, obstructed form tmpak2llvmy_mondo_relaxed.owl Orphanet:238646|ICD10:Q62.2 owl:Class MONDO:0015383 biolink:NamedThing cervicofacial fibrochondroma tmpak2llvmy_mondo_relaxed.owl cervicofacial enchondroma Orphanet:141067 owl:Class MONDO:0016219 biolink:NamedThing dysmorphism-pectus carinatum-joint laxity syndrome Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. tmpak2llvmy_mondo_relaxed.owl dysmorphism-pectus carinatum-joint laxity syndrome|Guizar Vasquez Sanchez Manzano syndrome|Guízar Vázquez-Sánchez-Manzano syndrome GARD:0000352|Orphanet:2104|ICD10:Q87.8|UMLS:CN237430 https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome owl:Class MONDO:0017500 biolink:NamedThing congenital absence of both lower leg and foot, unilateral tmpak2llvmy_mondo_relaxed.owl tibiofibular terminal transverse meromelia, unilateral Orphanet:295097|ICD10:Q72.2 owl:Class MONDO:0030056 biolink:NamedThing Fanconi renotubular syndrome 5 tmpak2llvmy_mondo_relaxed.owl FRTS5|FANCONI RENOTUBULAR SYNDROME 5|Fanconi renotubular syndrome 5|Fanconi Renotubular Syndrome, Acadian Variant OMIM:618913 owl:Class HGNC:6181 biolink:NamedThing ITPR2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012722 biolink:NamedThing Dauwerse-Peters syndrome tmpak2llvmy_mondo_relaxed.owl short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome|short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly UMLS:C2673203|GARD:0010568|OMIM:611733|MESH:C567093 https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome owl:Class HGNC:4851 biolink:NamedThing HTT tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0031091 biolink:NamedThing platelet alpha granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). tmpak2llvmy_mondo_relaxed.owl platelet alpha-granule owl:Class MONDO:0025699 biolink:NamedThing Coffin-Siris syndrome 12 tmpak2llvmy_mondo_relaxed.owl CSS12 OMIM:619325 owl:Class MONDO:0001861 biolink:NamedThing malignant parietal pleura tumor tmpak2llvmy_mondo_relaxed.owl primary malignant neoplasm of parietal pleura UMLS:C0153495|DOID:14032|SCTID:93948004 owl:Class MONDO:0008037 biolink:NamedThing myelinated optic nerve fibers tmpak2llvmy_mondo_relaxed.owl myelinated optic nerve fibers OMIM:159500 owl:Class MONDO:0013697 biolink:NamedThing intellectual disability, autosomal recessive 29 tmpak2llvmy_mondo_relaxed.owl MRT29|mental retardation, autosomal recessive 29|intellectual disability, autosomal recessive 29 OMIM:614333|UMLS:C3280525 owl:Class MONDO:0009781 biolink:NamedThing Onychotrichodysplasia and neutropenia tmpak2llvmy_mondo_relaxed.owl onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia OMIM:258360|MESH:C537752|Orphanet:2739|GARD:0010161|UMLS:C1850316 https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia owl:Class MONDO:0017556 biolink:NamedThing Madelung deformity, unilateral tmpak2llvmy_mondo_relaxed.owl ICD10:Q74.0|Orphanet:295221 owl:Class MONDO:0016712 biolink:NamedThing classic medulloblastoma Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. tmpak2llvmy_mondo_relaxed.owl classic medulloblastoma SCTID:699704002|Orphanet:251867|ICD10:C71.6|NCIT:C54039|UMLS:C1707400 owl:Class HGNC:7477 biolink:NamedThing MT-TC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0013382 biolink:NamedThing progressive demyelinating neuropathy with bilateral striatal necrosis Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. tmpak2llvmy_mondo_relaxed.owl thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|THMD4|bilateral striatal Degeneration and progressive polyneuropathy|progressive polyneuropathy with bilateral striatal necrosis|striatal Necrosis, bilateral, and progressive polyneuropathy UMLS:C3150973|Orphanet:217396|OMIM:613710 owl:Class MONDO:0042960 biolink:NamedThing Sackey-Sakati-Aur syndrome tmpak2llvmy_mondo_relaxed.owl Aur syndrome|Sackey Sakati Aur syndrome|pancytopenia multiple congenital anomalies|multiple dysmorphic features and pancytopenia MESH:C537219|UMLS:C2931442|GARD:0000315 owl:Class MONDO:0030308 biolink:NamedThing immunodeficiency 82 with systemic inflammation tmpak2llvmy_mondo_relaxed.owl immunodeficiency 82 with systemic inflammation|IMD82 OMIM:619381 owl:Class MONDO:0008556 biolink:NamedThing thrombocytopenia, cyclic tmpak2llvmy_mondo_relaxed.owl thrombocytopenia cyclic|cyclic thrombocytopenia|thrombocytopenia, cyclic GARD:0009862|SCTID:48788004|ICD9:287.39|MESH:C536899|OMIM:188020|UMLS:C0272282 https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia owl:Class MONDO:0017498 biolink:NamedThing congenital absence of both forearm and hand, unilateral Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved. tmpak2llvmy_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, unilateral ICD10:Q71.2|Orphanet:295093 owl:Class MONDO:0018540 biolink:NamedThing PFAPA syndrome An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. tmpak2llvmy_mondo_relaxed.owl Marshall syndrome|Marshall syndrome with periodic fever|PFAPA|periodic fever, aphthous stomatitis, pharyngitis and adenitis|periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome UMLS:C4082167|SCTID:717231003|GARD:0005657|ICD10:E85.0|Orphanet:42642|NCIT:C116917|UMLS:CN205072 owl:Class MONDO:0003651 biolink:NamedThing macrotrabecular hepatoblastoma A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae. tmpak2llvmy_mondo_relaxed.owl DOID:5798|NCIT:C7095|UMLS:C1334543 owl:Class MONDO:0017894 biolink:NamedThing acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). tmpak2llvmy_mondo_relaxed.owl acute myeloid Leukemia with mutated CEBPA|AML with CEBPA somatic mutations|AML with mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA|acute myeloid Leukemia with non-germline mutated CEBPA UMLS:C2826178|SCTID:764855007|ICD10:C92.0|NCIT:C82433|Orphanet:319480 owl:Class MONDO:0006073 biolink:NamedThing adenomatoid odontogenic tumor A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. tmpak2llvmy_mondo_relaxed.owl adenomatoid odontogenic neoplasm NCIT:C4310|ICDO:9300/0|EFO:1000072|MESH:C538229 owl:Class MONDO:0017176 biolink:NamedThing Machado-Joseph disease type 3 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. tmpak2llvmy_mondo_relaxed.owl azorean disease, type iii|spinocerebellar ataxia type 3, Machado type|SCA3, Machado type ICD10:G11.8|Orphanet:276244|SCTID:91955005 owl:Class MONDO:0022094 biolink:NamedThing Cartwright Nelson Fryns syndrome tmpak2llvmy_mondo_relaxed.owl Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails MESH:C535917|UMLS:C2931062|GARD:0001132 https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome owl:Class MONDO:0010841 biolink:NamedThing Waardenburg syndrome type 2B tmpak2llvmy_mondo_relaxed.owl Waardenburg syndrome type IIB|WS2B|Waardenburg syndrome, type 2B UMLS:C1838447|DOID:0110947|MESH:C536465|GARD:0005522|OMIM:600193 https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b owl:Class MONDO:0019988 biolink:NamedThing pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. tmpak2llvmy_mondo_relaxed.owl pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody Orphanet:97563|ICD10:N05.7|UMLS:CN206923 owl:Class MONDO:0033563 biolink:NamedThing retinitis pigmentosa 90 tmpak2llvmy_mondo_relaxed.owl RETINITIS PIGMENTOSA 90|RP90 OMIM:619007 owl:Class MONDO:0006831 biolink:NamedThing leukostasis A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. tmpak2llvmy_mondo_relaxed.owl leukostasis (morphologic abnormality) UMLS:C0282548|DOID:12986|MESH:D018921|EFO:1001016|MedDRA:10024404 owl:Class MONDO:0006197 biolink:NamedThing endometrial small cell carcinoma A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. tmpak2llvmy_mondo_relaxed.owl endometrium small cell carcinoma|small cell carcinoma of endometrium|endometrial small cell carcinoma DOID:7139|NCIT:C40155|UMLS:C1516858|EFO:1000239 owl:Class MONDO:0003530 biolink:NamedThing aggressive digital papillary adenocarcinoma tmpak2llvmy_mondo_relaxed.owl ONCOTREE:ADPA|DOID:5590 owl:Class MONDO:0017193 biolink:NamedThing symptomatic form of Coffin-Lowry syndrome in female carriers tmpak2llvmy_mondo_relaxed.owl ICD10:Q87.0|UMLS:CN202633|Orphanet:276630 owl:Class MONDO:0044628 biolink:NamedThing six2-related frontonasal dysplasia tmpak2llvmy_mondo_relaxed.owl SIX2-related FND Orphanet:488437 owl:Class MONDO:0022899 biolink:NamedThing crawfurd syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0001607 https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome owl:Class MONDO:0001811 biolink:NamedThing tetanic cataract A cataract resulting from hypocalcemia. tmpak2llvmy_mondo_relaxed.owl hypocalcaemic cataract DOID:13822|UMLS:C0039613|NCIT:C35068|SCTID:68216000|ICD9:366.42 owl:Class MONDO:0013097 biolink:NamedThing glioma susceptibility 8 tmpak2llvmy_mondo_relaxed.owl glioma susceptibility 8|GLM8 OMIM:613033|UMLS:C2751637 owl:Class MONDO:0015907 biolink:NamedThing epimetaphyseal skeletal dysplasia tmpak2llvmy_mondo_relaxed.owl ICD10:Q77.8|Orphanet:1819|GARD:0002176 https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia owl:Class MONDO:0019881 biolink:NamedThing distal trisomy 6q Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 6qter|distal trisomy type 6q|telomeric duplication 6q|distal duplication 6q SCTID:763275001|MESH:C537810|Orphanet:96098|ICD10:Q92.3 owl:Class HGNC:250 biolink:NamedThing ADH1B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0020518 biolink:NamedThing Hashimoto-Pritzker syndrome Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules). tmpak2llvmy_mondo_relaxed.owl Hashimoto-Pritzker histiocytosis|Hashimoto-Pritzker disease|congenital Langerhans cell histiocytosis SCTID:404160007|ICD9:277.89|GARD:0002604|MESH:C535843|Orphanet:99872|UMLS:C1275336|ICD10:C96.5 https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome owl:Class MONDO:0001469 biolink:NamedThing cascade stomach tmpak2llvmy_mondo_relaxed.owl hourglass stricture or stenosis of stomach UMLS:C0267183|DOID:12234|ICD10:K31.2|ICD9:537.6|SCTID:54051005 owl:Class MONDO:0032890 biolink:NamedThing neuromuscular disease and ocular or auditory anomalies with or without seizures tmpak2llvmy_mondo_relaxed.owl NMOAS|NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES OMIM:618733 owl:Class MONDO:0016474 biolink:NamedThing drug-induced lupus erythematosus An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. tmpak2llvmy_mondo_relaxed.owl drug induced lupus|drug induced lupus erythematosus|DIL|drug-induced lupus|DILE MedDRA:10013706|ICD10:M32.0|Orphanet:231111|SCTID:80258006|UMLS:C0263591|DOID:0040093|NCIT:C114354 owl:Class MONDO:0016976 biolink:NamedThing well-differentiated thymic neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl UMLS:CN202278|Orphanet:263331|ICD10:C37|SCTID:717922007 owl:Class MONDO:0000446 biolink:NamedThing midface dysplasia tmpak2llvmy_mondo_relaxed.owl DOID:0050767 owl:Class MONDO:0002897 biolink:NamedThing secondary syphilis The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. tmpak2llvmy_mondo_relaxed.owl secondary syphilis of viscera or bone NCIT:C128413|ICD9:091.89|SCTID:240557004|UMLS:C0149985|MESH:C536773|DOID:4157|UMLS:C0343676|ICD9:091.9 owl:Class MONDO:0011286 biolink:NamedThing autosomal recessive nonsyndromic deafness 13 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 13|autosomal recessive deafness 13|DFNB13|deafness, autosomal recessive 13 OMIM:603098|DOID:0110468|ICD10:H90.3|UMLS:C1864199|MESH:C566410 owl:Class FOODON:03420113 biolink:NamedThing mammalian milk or milk component A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk). tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008069 biolink:NamedThing necrotizing encephalomyelopathy, subacute, of Leigh, adult tmpak2llvmy_mondo_relaxed.owl Leigh syndrome, adult|necrotizing encephalomyelopathy, subacute, of Leigh, adult MESH:C563530|OMIM:161700|UMLS:C1834340 owl:Class MONDO:0013733 biolink:NamedThing accelerated tumor formation, susceptibility to tmpak2llvmy_mondo_relaxed.owl accelerated tumor formation, susceptibility to|ACTFS OMIM:614401 owl:Class NCBITaxon:2085 biolink:NamedThing Mycoplasmatales tmpak2llvmy_mondo_relaxed.owl Paramycetales|Pleuropneumoniales|Mycoplasmas|Borrelomycetales|Mollicutales|The Mycoplasmas PMID:16350067|GC_ID:4 NCBITaxon:2091 ncbi_taxonomy owl:Class MONDO:0011696 biolink:NamedThing melanoma, uveal, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl melanoma, uveal, susceptibility to, 2|melanoma, uveal, susceptibility to, type 2|UVM2 OMIM:606661 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0020775 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 1 tmpak2llvmy_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1|CDGF1|Cdgf OMIM:618005 owl:Class MONDO:0009436 biolink:NamedThing congenital hypothalamic hamartoma syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. tmpak2llvmy_mondo_relaxed.owl congenital hypothalamic hamartoma syndrome|hypothalamic hamartomas|hamartoma of the hypothalamus|hypothalamic hamartoma|hamartoma of hypothalamus NCIT:C4385|Orphanet:2113|OMIM:241800|SCTID:237714006|MESH:C537158|GARD:0002934|ICD9:759.6 Editor note: obsoleted in ORDO https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas owl:Class MONDO:0021994 biolink:NamedThing Berk-Tabatznik syndrome tmpak2llvmy_mondo_relaxed.owl cleft nare, brachydactyly, short stature-dwarfism|short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges|kyphosis brachyphalangy optic atrophy|Berk Tabatznik syndrome|congenital optic atrophy and brachytelephalangy|cleft nare, brachydactyly, short stature dwarfism GARD:0005109|UMLS:C2930899|MESH:C535432 https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome owl:Class MONDO:0020708 biolink:NamedThing brachial amyotrophic diplegia A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. tmpak2llvmy_mondo_relaxed.owl FAS|flail arm syndrome|man-in-barrel syndrome|BAD|brachial amyotrophic diplegia NCIT:C133085 owl:Class MONDO:0000815 biolink:NamedThing fetal nicotine spectrum disorder A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. tmpak2llvmy_mondo_relaxed.owl DOID:0060606 owl:Class MONDO:0011507 biolink:NamedThing diabetes mellitus, congenital autoimmune tmpak2llvmy_mondo_relaxed.owl diabetes mellitus, congenital autoimmune UMLS:C1857958|OMIM:605026|MESH:C565730 owl:Class MONDO:0041052 biolink:NamedThing postherpetic neuralgia tmpak2llvmy_mondo_relaxed.owl post-zoster neuralgia|PHN - post-herpetic neuralgia|postherpetic neuralgia UMLS:C0032768|SCTID:2177002 owl:Class MONDO:0030996 biolink:NamedThing bleeding disorder, platelet-type, 24 tmpak2llvmy_mondo_relaxed.owl BDPLT24|bleeding disorder, platelet-type, 24|Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2 OMIM:619271 owl:Class MONDO:0018232 biolink:NamedThing primary bone dysplasia with micromelia tmpak2llvmy_mondo_relaxed.owl primary osteodysplasia with micromelia|primary skeletal dysplasia with micromelia 2022-01-01 Orphanet:364536 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0003679 biolink:NamedThing anteroseptal myocardial infarction tmpak2llvmy_mondo_relaxed.owl UMLS:C0262565|DOID:5855 owl:Class MONDO:0001726 biolink:NamedThing childhood disintegrative disease A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. tmpak2llvmy_mondo_relaxed.owl disintegrative psychosis|symbiotic psychosis|heller's syndrome DOID:13487|ICD10:F84.3|ICD9:299.1|SCTID:61831009 owl:Class MONDO:0001143 biolink:NamedThing paralytic strabismus tmpak2llvmy_mondo_relaxed.owl paralytic squint|incomitant dissociation DOID:10863|SCTID:400942002|ICD10:H49.9|ICD9:378.50|HP:0031775|UMLS:C0152221|ICD10:H49|ICD9:378.5 owl:Class MONDO:0011123 biolink:NamedThing type 1 diabetes mellitus 15 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. tmpak2llvmy_mondo_relaxed.owl insulin-dependent diabetes mellitus 15|IDDM15|diabetes mellitus, insulin-dependent, 15 OMIM:601666|UMLS:C1866519|MESH:C566645|DOID:0110753|ICD10:E10 owl:Class MONDO:0015836 biolink:NamedThing Bicervical bicornuate uterus with patent cervix and vagina tmpak2llvmy_mondo_relaxed.owl Orphanet:180111|ICD10:Q51.1 owl:Class MONDO:0007775 biolink:NamedThing hypersecretion of adrenal androgens, familial tmpak2llvmy_mondo_relaxed.owl familial hypersecretion of adrenal androgens|hypersecretion of adrenal androgens, familial MESH:C536845|UMLS:C1840387|GARD:0009593|OMIM:145295 https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens owl:Class NCBITaxon:31969 biolink:NamedThing Mollicutes tmpak2llvmy_mondo_relaxed.owl mycoplasmas|Mycoplasmas and walled relatives|Paramycetes PMID:2592342|PMID:8863413|PMID:11321122|PMID:8123554|PMID:15143038|PMID:23606477|PMID:8863414|GC_ID:11|PMID:17978244 ncbi_taxonomy owl:Class MONDO:0012265 biolink:NamedThing preeclampsia/eclampsia 3 tmpak2llvmy_mondo_relaxed.owl PEE3|PREECLAMPSIA/eclampsia 3 UMLS:C1836256|OMIM:609403 owl:Class MONDO:0013857 biolink:NamedThing alar cleft, isolated tmpak2llvmy_mondo_relaxed.owl alar cleft, isolated UMLS:C3553476|OMIM:614687 owl:Class CL:0002557 biolink:NamedThing fibroblast of pulmonary artery A fibroblast of pulmonary artery. tmpak2llvmy_mondo_relaxed.owl tmeehan 2011-02-28T05:22:27Z cell owl:Class MONDO:0012740 biolink:NamedThing chromosome 22q11.2 deletion syndrome, distal Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. tmpak2llvmy_mondo_relaxed.owl chromosome 22q11.2 deletion syndrome, distal|distal chromosome 22Q11.2 deletion syndrome|distal 22q11.2 microdeletion syndrome|distal del(22)(q11.2)|distal monosomy 22q11.2 OMIM:611867|ICD10:Q93.5|DOID:0060413|SCTID:734029004|MESH:C567511|UMLS:C4518343|Orphanet:261330|UMLS:C2678480 owl:Class MONDO:0002559 biolink:NamedThing plexiform schwannoma A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. tmpak2llvmy_mondo_relaxed.owl plexiform schwannoma (morphologic abnormality)|plexiform schwannoma|plexiform neurinoma|plexiform neurilemmoma NCIT:C6969|SCTID:404025004|UMLS:C1370659|ICD9:215.9|DOID:3206 owl:Class MONDO:0004407 biolink:NamedThing stroma-dominant and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. tmpak2llvmy_mondo_relaxed.owl composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor DOID:7949|NCIT:C42060|UMLS:C1516761 owl:Class MONDO:0017724 biolink:NamedThing Tay-Sachs disease, b variant, infantile form tmpak2llvmy_mondo_relaxed.owl GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form Orphanet:309178|UMLS:CN203620|ICD10:E75.0 owl:Class MONDO:0019476 biolink:NamedThing primary cutaneous peripheral T-cell lymphoma not otherwise specified tmpak2llvmy_mondo_relaxed.owl primary cutaneous unspecified peripheral T-cell lymphoma Orphanet:86885|MedDRA:10034623|ICD10:C84.4 owl:Class MONDO:0043101 biolink:NamedThing hypothalamic dysfunction Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. tmpak2llvmy_mondo_relaxed.owl hypothalamic syndrome|hypothalamic dysfunction SCTID:111568001|GARD:0002932 owl:Class MONDO:0001780 biolink:NamedThing premature ejaculation A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. tmpak2llvmy_mondo_relaxed.owl premature ejaculation (disease)|premature ejaculation premature ejaculation (disease) NCIT:C94349|MESH:D061686|ICD10:F52.4|ICD9:302.75|HP:0012876|DOID:13709 owl:Class MONDO:0019732 biolink:NamedThing ALys amyloidosis tmpak2llvmy_mondo_relaxed.owl familial amyloid nephropathy due to lysozyme variant|lysozyme amyloidosis|hereditary amyloid nephropathy due to lysozyme variant|hereditary renal amyloidosis due to lysozyme variant|familial renal amyloidosis due to lysozyme variant ICD10:E85.0|UMLS:CN206639|Orphanet:93561 owl:Class MONDO:0006458 biolink:NamedThing thymoma type B3 Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. tmpak2llvmy_mondo_relaxed.owl epithelial thymoma|well-differentiated thymic carcinoma|atypical thymoma|malignant thymoma type B3|epithelial malignant thymoma|thymoma type B3|squamoid thymoma|well differentiated thymic carcinoma|thymoma, epithelial ICDO:8585/1|DOID:7926|NCIT:C7997|ICDO:8585/3|UMLS:C0279705|EFO:1000583 owl:Class MONDO:0033646 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 12 tmpak2llvmy_mondo_relaxed.owl MC4DN12 OMIM:619055 owl:Class MONDO:0016630 biolink:NamedThing isolated delta-storage pool disease Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. tmpak2llvmy_mondo_relaxed.owl isolated dense-SPD|isolated delta-SPD|isolated dense-storage pool disease ICD10:D69.1|UMLS:CN201837|Orphanet:248340 owl:Class MONDO:0033614 biolink:NamedThing spastic paraplegia 83, autosomal recessive tmpak2llvmy_mondo_relaxed.owl SPG83 OMIM:619027 owl:Class HGNC:6188 biolink:NamedThing JAG1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006146 biolink:NamedThing chondroid hamartoma A hamartoma that is characterized by the presence of chondroid elements. tmpak2llvmy_mondo_relaxed.owl EFO:1000175|NCIT:C42589|UMLS:C1707390 owl:Class MONDO:0008709 biolink:NamedThing acrocephalopolydactyly Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. tmpak2llvmy_mondo_relaxed.owl Elejalde syndrome|acrocephalopolydactylous dysplasia OMIM:200995|Orphanet:221054|SCTID:720417003|GARD:0002096|MESH:C573722|ICD10:Q87.0|UMLS:CN201238|UMLS:C3495588|GARD:0000486 Editor note: check GARD owl:Class MONDO:0032656 biolink:NamedThing microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum tmpak2llvmy_mondo_relaxed.owl MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM|MCIDDS OMIM:618284 owl:Class MONDO:0009128 biolink:NamedThing dwarfism, intellectual disability, and eye abnormality tmpak2llvmy_mondo_relaxed.owl dwarfism, intellectual disability, and eye abnormality|Mollica syndrome|dwarfism, mental retardation, and eye abnormality Orphanet:2650|OMIM:223540|MESH:C535809|UMLS:C0796076 owl:Class MONDO:0016672 biolink:NamedThing hereditary persistence of fetal hemoglobin-sickle cell disease syndrome tmpak2llvmy_mondo_relaxed.owl HPFH-sickle cell disease syndrome UMLS:CN201912|Orphanet:251380|HGNC:5153|HGNC:3627|ICD10:D57.2 owl:Class MONDO:0005465 biolink:NamedThing methamphetamine-induced psychosis Abnormal mental state resulting from an abuse of methamphetamine tmpak2llvmy_mondo_relaxed.owl EFO:0005242 owl:Class MONDO:0005902 biolink:NamedThing peanut allergic reaction Allergic reaction to peanuts that is triggered by the immune system. tmpak2llvmy_mondo_relaxed.owl peanut allergy|nut allergic reaction of pigmented ciliary epithelial cell|peanut allergic reaction|allergy to peanuts|pigmented ciliary epithelial cell nut allergic reaction EFO:0007425|SCTID:91935009|ICD9:995.3|MESH:D021183|UMLS:C0559470|DOID:4378 owl:Class MONDO:0017407 biolink:NamedThing deficiency in anterior pituitary function - variable immunodeficiency syndrome tmpak2llvmy_mondo_relaxed.owl David syndrome Orphanet:293978 owl:Class MONDO:0010090 biolink:NamedThing Summitt syndrome Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome. tmpak2llvmy_mondo_relaxed.owl recessive acrocephalosyndactyly with normal intelligence|Summitt's acrocephalosyndactyly|Summitt syndrome SCTID:733606001|MESH:C538142|GARD:0000127|OMIM:272350|ICD10:Q82.0|Orphanet:3210|UMLS:C1802405 https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome owl:Class MONDO:0015539 biolink:NamedThing progressive nodular histiocytosis Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. tmpak2llvmy_mondo_relaxed.owl SCTID:765141005|ICD10:D76.3|Orphanet:158022 owl:Class MONDO:0030938 biolink:NamedThing spermatogenic failure 52 tmpak2llvmy_mondo_relaxed.owl spermatogenic failure 52|SPGF52 OMIM:619202 owl:Class MONDO:0022841 biolink:NamedThing congenital hypotrichosis milia tmpak2llvmy_mondo_relaxed.owl GARD:0001488 https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia owl:Class MONDO:0015274 biolink:NamedThing chronic beryllium disease Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. tmpak2llvmy_mondo_relaxed.owl chronic berylliosis|beryllium poisoning|acute berylliosis|chronic pulmonary berylliosis|Beryllliosis|reversible berylliosis|beryllium disease|chronic beryllium lung disease|Subacute berylliosis|berylliosis ICD9:503|DOID:10322|MedDRA:10004485|EFO:0007168|SCTID:18121009|Orphanet:133|GARD:0000867|MESH:D001607|ICD10:J63.2 owl:Class MONDO:0005670 biolink:NamedThing blackwater fever A complication of malaria resulting from hemolysis. tmpak2llvmy_mondo_relaxed.owl blackwater fever|Black water fever|malarial hemoglobinuria|hemoglobinuric, malaria ICD9:084.8|MESH:D001742|SCTID:56625005|UMLS:C0005681|EFO:0007172|DOID:14068|NCIT:C34426 owl:Class MONDO:0001695 biolink:NamedThing senile ectropion tmpak2llvmy_mondo_relaxed.owl involutional ectropion DOID:13356|UMLS:C0155193|ICD9:374.11|SCTID:71659009 owl:Class MONDO:0020358 biolink:NamedThing coloboma of optic disc Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). tmpak2llvmy_mondo_relaxed.owl coloboma of optic papilla Orphanet:98947|GARD:0001438|ICD10:Q14.2 owl:Class MONDO:0017348 biolink:NamedThing lymphoepithelial-like carcinoma Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. tmpak2llvmy_mondo_relaxed.owl Orphanet:289682 owl:Class MONDO:0008103 biolink:NamedThing noduli Cutanei, multiple, with urinary tract abnormalities tmpak2llvmy_mondo_relaxed.owl noduli Cutanei, multiple, with urinary tract abnormalities UMLS:C1834143|OMIM:163850|MESH:C563512 owl:Class MONDO:0009596 biolink:NamedThing metaphyseal chondrodysplasia, Pena type tmpak2llvmy_mondo_relaxed.owl metaphyseal chondrodysplasia, Pena type OMIM:250300|MESH:C565399|UMLS:C1855195 owl:Class MONDO:0100285 biolink:NamedThing extrahepatic biliary atresia A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. tmpak2llvmy_mondo_relaxed.owl EHBA|biliary atresia, extrahepatic OMIM:210500|UMLS:C4520983 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2663 owl:Class MONDO:0002306 biolink:NamedThing angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. tmpak2llvmy_mondo_relaxed.owl DOID:2455|UMLS:C0155149|ICD10:H10.52|ICD9:372.21|SCTID:69397000 owl:Class MONDO:0005928 biolink:NamedThing post-thrombotic syndrome A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. tmpak2llvmy_mondo_relaxed.owl postphlebetic syndrome with inflammation|postphlebetic syndrome with ulcer|venous stress disorder|postphlebitic syndrome|postphlebetic syndrome with ulcer and inflammation ICD10:I87.0|ICD9:459.11|MESH:D011186|ICD9:459.12|ICD9:459.1|DOID:2364|SCTID:20427003|EFO:0007452|ICD9:459.10|ICD9:459.13 owl:Class MONDO:0020858 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 tmpak2llvmy_mondo_relaxed.owl Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5|MC5DN5 OMIM:618120 owl:Class MONDO:0042912 biolink:NamedThing Schlegelberger-Grote syndrome tmpak2llvmy_mondo_relaxed.owl Schlegelberger Grote syndrome|triphalangeal thumbs thrombocytopathy deafness|syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear UMLS:C2931273|GARD:0000255|MESH:C536635 owl:Class MONDO:0016771 biolink:NamedThing annular atrophic lichen planus Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. tmpak2llvmy_mondo_relaxed.owl annular atrophic LP GARD:0012676|Orphanet:254411|SCTID:720493003|ICD10:L43.8|UMLS:C4304037 https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus owl:Class MONDO:0004511 biolink:NamedThing lower clivus meningioma A meningioma that affects the lower clivus. tmpak2llvmy_mondo_relaxed.owl meningioma of the lower clivus|meningioma of Lower clivus DOID:8239|NCIT:C5288|UMLS:C1334434 owl:Class MONDO:0013149 biolink:NamedThing hydrops fetalis, nonimmune, with gracile bones and dysmorphic features tmpak2llvmy_mondo_relaxed.owl hydrops fetalis, nonimmune, with gracile bones and dysmorphic features OMIM:613124|UMLS:C2751073|MESH:C567731 owl:Class NCBITaxon:452563 biolink:NamedThing Cladosporiaceae tmpak2llvmy_mondo_relaxed.owl Davidiellaceae GC_ID:1|PMID:17486979 NCBITaxon:452564 ncbi_taxonomy owl:Class MONDO:0004854 biolink:NamedThing ophthalmia neonatorum Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. tmpak2llvmy_mondo_relaxed.owl neonatal conjunctivitis|gonococcal ophthalmia neonatorum|gonococcal conjunctivitis (neonatorum) DOID:9699|SCTID:34298002|ICD9:771.6|MESH:D009878|ICD10:P39.1|UMLS:C0029076|NCIT:C116815 owl:Class MONDO:0004904 biolink:NamedThing toxic maculopathy tmpak2llvmy_mondo_relaxed.owl toxic maculopathy of retina ICD9:362.55|SCTID:44115007|UMLS:C0271086|DOID:9867|ICD10:H35.38 owl:Class MONDO:0004451 biolink:NamedThing sarcomatous intrahepatic cholangiocarcinoma A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. tmpak2llvmy_mondo_relaxed.owl intrahepatic cholangiocarcinoma with extensive sarcomatous changes|sarcomatoid intrahepatic cholangiocarcinoma UMLS:C1519184|DOID:8072|NCIT:C41620 owl:Class MONDO:0012645 biolink:NamedThing glaucoma 1, open angle, N tmpak2llvmy_mondo_relaxed.owl JOAG1N|glaucoma 1, open angle, N|GLC1N MESH:C566977|UMLS:C1969812|OMIM:611274 owl:Class MONDO:0008845 biolink:NamedThing atonic-astatic syndrome of Foerster tmpak2llvmy_mondo_relaxed.owl atonic-astatic syndrome of Foerster UMLS:C1859594|OMIM:209100|MESH:C565926 owl:Class MONDO:0002674 biolink:NamedThing stricture or kinking of ureter tmpak2llvmy_mondo_relaxed.owl ICD9:593.3|DOID:3508 owl:Class MONDO:0001439 biolink:NamedThing episcleritis periodica fugax tmpak2llvmy_mondo_relaxed.owl ICD10:H15.11|UMLS:C0155351|ICD9:379.01|SCTID:31166000|DOID:12124 owl:Class MONDO:0009363 biolink:NamedThing hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. tmpak2llvmy_mondo_relaxed.owl hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|Daish-Hardman-Lamont syndrome|hydrocephaly - tall stature - joint laxity|hydrocephalus, tall stature, joint laxity and kyphoscoliosis|Daish Hardman Lamont syndrome ICD10:Q87.8|Orphanet:2181|GARD:0001666|OMIM:236660|MESH:C535770|UMLS:C1856051|SCTID:732926009 owl:Class MONDO:0003851 biolink:NamedThing ovarian fetiform teratoma A rare type of teratoma that arises from the ovary and resembles a malformed fetus. tmpak2llvmy_mondo_relaxed.owl homunculus|ovarian fetiform teratoma NCIT:C39996|UMLS:C1518715|DOID:6314 owl:Class MONDO:0007685 biolink:NamedThing granulosis rubra nasi tmpak2llvmy_mondo_relaxed.owl granulosis rubra nasi ICD9:705.89|OMIM:139000|MESH:C562483|SCTID:22818000|UMLS:C0263471 owl:Class MONDO:0010312 biolink:NamedThing radial ray deficiency, X-linked tmpak2llvmy_mondo_relaxed.owl Rrdx|radial ray deficiency, X-linked MESH:C564523|OMIM:300378|UMLS:C1845717 owl:Class MONDO:0022610 biolink:NamedThing bronchiectasis oligospermia tmpak2llvmy_mondo_relaxed.owl GARD:0001023 https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia owl:Class MONDO:0004578 biolink:NamedThing flat retinoschisis tmpak2llvmy_mondo_relaxed.owl ICD9:361.11|UMLS:C0154817|DOID:8464|SCTID:83405000 owl:Class ECTO:0000725 biolink:NamedThing exposure to carcinogenic agent An exposure to carcinogenic agent. tmpak2llvmy_mondo_relaxed.owl exposure to carcinogenic agent owl:Class MONDO:0009997 biolink:NamedThing Roberts syndrome Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. tmpak2llvmy_mondo_relaxed.owl Roberts tetraphocomelia syndrome|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|SC phocomelia|SC pseudothalidomide syndrome|Appelt-Gerken-Lenz syndrome|SC phocomelia syndrome (mild variant of Roberts syndrome)|tetraphocomelia-cleft palate syndrome|Roberts syndrome/SC phocomelia|pseudothalidomide syndrome SCTID:48718006|Orphanet:3103|DOID:5325|GARD:0007387|MESH:C535687|NCIT:C126326|ICD10:Q73.8 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0024421 biolink:NamedThing short stature contractures hypotonia tmpak2llvmy_mondo_relaxed.owl Hennekam Koss de Geest syndrome GARD:0004839 Editor note: disappeared from Orphanet? owl:Class MONDO:0010740 biolink:NamedThing taurodontism, microdontia, and dens invaginatus tmpak2llvmy_mondo_relaxed.owl taurodontism, microdontia, and dens invaginatus GARD:0010068|OMIM:313490|UMLS:C1839235|MESH:C536947 https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus owl:Class MONDO:0013637 biolink:NamedThing primary biliary cholangitis 5 tmpak2llvmy_mondo_relaxed.owl biliary cirrhosis, primary, 5|PBC5 UMLS:C3280202|OMIM:614221 owl:Class MONDO:0008142 biolink:NamedThing Thiemann disease, familial form Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. tmpak2llvmy_mondo_relaxed.owl aseptic necrosis of phalangeal epiphyses|osteochondritis of phalangeal epiphyses|Thiemann's disease|Osteochondrosis of phalangeal epiphyses|osteoarthropathy of fingers, familial|Thiemann epiphyseal disease|THIEMANN disease|osteoarthropathy of fingers familial ICD9:716.84|OMIM:165700|MESH:C537144|GARD:0004131|UMLS:C0264081|Orphanet:3314|SCTID:55166000|ICD10:M93.2 owl:Class MONDO:0043959 biolink:NamedThing pseudolymphoma A neoplastic process that resembles a malignant lymphoma, but has a benign course. tmpak2llvmy_mondo_relaxed.owl lymphoid Hyperplasias, reactive|lymphocytoma|hyperplasias, reactive lymphoid|pseudolymphoma|benign lymphoid hyperplasia|pseudolymphomas|hyperplasia, reactive lymphoid|lymphoid hyperplasia, reactive|reactive lymphoid Hyperplasias|lymphocytomas|reactive lymphoid hyperplasia SCTID:19750001|UMLS:C0221269|MESH:D019310|EFO:1001414|NCIT:C3825 owl:Class MONDO:0002253 biolink:NamedThing spondylosis A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. tmpak2llvmy_mondo_relaxed.owl lumbosacral spondylosis without myelopathy|spondylogenic compression of thoracic spinal cord|thoracic or lumbar spondylosis with myelopathy|spondylosis with myelopathy|spondylogenic compression of lumbar spinal cord|lumbar spondylosis with myelopathy ICD10:M47|ICD10:M47.9|ICD9:721.3|DOID:2247|ICD9:721.9|UMLS:C0038019|SCTID:48210000|MESH:D055009 owl:Class MONDO:0032886 biolink:NamedThing Liang-Wang syndrome tmpak2llvmy_mondo_relaxed.owl LIANG-WANG SYNDROME|LIWAS OMIM:618729 owl:Class MONDO:0015555 biolink:NamedThing plaque-form urticaria pigmentosa tmpak2llvmy_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158769 owl:Class MONDO:0030927 biolink:NamedThing myofibrillar myopathy 11 tmpak2llvmy_mondo_relaxed.owl MFM11|myopathy, congenital, with eccentric cores|myofibrillar myopathy 11 OMIM:619178 owl:Class MONDO:0007128 biolink:NamedThing annular erythema tmpak2llvmy_mondo_relaxed.owl annular erythema UMLS:C0234906|MESH:C562461|OMIM:106500|SCTID:200920000 owl:Class MONDO:0017648 biolink:NamedThing Sydenham chorea A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. tmpak2llvmy_mondo_relaxed.owl ICD10:I02.9|Orphanet:306731|ICD10:I02.0|GARD:0007716|MedDRA:10042732 owl:Class MONDO:0004052 biolink:NamedThing rectal cloacogenic carcinoma A carcinoma that arises from the transitional zone at the junction of the rectum and anus. tmpak2llvmy_mondo_relaxed.owl rectal transition zone carcinoma|transition zone carcinoma of the rectum|cloacogenic carcinoma of the rectum|rectal cloacogenic carcinoma|transition zone carcinoma of rectum|rectal transitional zone carcinoma|cloacogenic carcinoma of rectum|transitional zone carcinoma of the rectum|transitional zone carcinoma of rectum DOID:6959|UMLS:C1333074|NCIT:C5555 owl:Class MONDO:0006933 biolink:NamedThing pulmonary plasma cell granuloma A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. tmpak2llvmy_mondo_relaxed.owl granuloma, plasma cell, pulmonary|sclerosing hemangiocytoma of lung|lymphocytic pseudotumor of lung ICD9:518.89|MESH:D016726|UMLS:C0085269|SCTID:1648002|EFO:1001135|DOID:3677 owl:Class MONDO:0019967 biolink:NamedThing Kienbock disease Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. tmpak2llvmy_mondo_relaxed.owl aseptic necrosis of the lunate bone|Kienbock's disease|Osteochondrosis of the lunate bone|bilateral Kienbock's disease|Lunatomalacia|osteochondritis of the lunate bone ICD10:M93.2|ICD10:M92.2|GARD:0009690|MedDRA:10064242|Orphanet:97332 owl:Class MONDO:0009985 biolink:NamedThing retinohepatoendocrinologic syndrome Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. tmpak2llvmy_mondo_relaxed.owl rhe syndrome|retinohepatoendocrinologic syndrome Orphanet:3087|ICD10:Q87.8|GARD:0004685|OMIM:268040|MESH:C564839|SCTID:724000006|UMLS:C1849399 https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome owl:Class MONDO:0011802 biolink:NamedThing hypercalciuria, absorptive, 1 tmpak2llvmy_mondo_relaxed.owl hypercalciuria, absorptive, type 1|Hca1|hypercalciuria, absorptive, 1 UMLS:C1846573|OMIM:607258|MESH:C564600 owl:Class MONDO:0010242 biolink:NamedThing fetal akinesia syndrome, X-linked tmpak2llvmy_mondo_relaxed.owl polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|X-linked form of fetal akinesia syndrome|fetal akinesia syndrome X-linked|fetal akinesia syndrome, X-linked GARD:0002293|MESH:C537921|OMIM:300073|UMLS:C1848171 https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked owl:Class MONDO:0018302 biolink:NamedThing acquired kinky hair syndrome Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. tmpak2llvmy_mondo_relaxed.owl UMLS:CN204889|Orphanet:37559|ICD10:L67.8 owl:Class MONDO:0032648 biolink:NamedThing mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations tmpak2llvmy_mondo_relaxed.owl MCCCHCM|MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS DOID:0111403|OMIM:618273 owl:Class MONDO:0019456 biolink:NamedThing acute myeloid leukemia with multilineage dysplasia An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. tmpak2llvmy_mondo_relaxed.owl acute myeloid leukaemia with myelodysplasia-related features|AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia|AML with myelodysplasia-related features UMLS:C1292773|ICDO:9895/3|GARD:0012761|Orphanet:86845|SCTID:445448008|NCIT:C9289|ICD10:C92.8 owl:Class MONDO:0017102 biolink:NamedThing isolated focal cortical dysplasia type IIb tmpak2llvmy_mondo_relaxed.owl FCD type IIb ICD10:Q04.8|Orphanet:269008|UMLS:CN202460 owl:Class MONDO:0003831 biolink:NamedThing type 2 papillary adenoma of the kidney tmpak2llvmy_mondo_relaxed.owl type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney DOID:6259|NCIT:C39810|UMLS:C1519710 owl:Class MONDO:0003905 biolink:NamedThing ovarian yolk sac tumor, glandular pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. tmpak2llvmy_mondo_relaxed.owl ovarian yolk Sac tumor, glandular pattern|glandular pattern ovarian yolk sac tumor DOID:6511|NCIT:C39988|UMLS:C1518747 owl:Class MONDO:0012254 biolink:NamedThing multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. tmpak2llvmy_mondo_relaxed.owl epiphyseal dysplasia, multiple, with miniepiphyses UMLS:C1836307|OMIM:609325|ICD10:Q77.3|Orphanet:166032|MESH:C563735 owl:Class MONDO:0023020 biolink:NamedThing dwarfism deafness retinitis pigmentosa tmpak2llvmy_mondo_relaxed.owl GARD:0001985 https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa owl:Class MONDO:0018552 biolink:NamedThing urachal sinus Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. tmpak2llvmy_mondo_relaxed.owl Orphanet:431344|UMLS:CN237553|ICD10:Q64.4|SCTID:451030007 owl:Class MONDO:0022887 biolink:NamedThing craniofrontonasal syndrome Teebi type tmpak2llvmy_mondo_relaxed.owl GARD:0001579 https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type owl:Class MONDO:0010409 biolink:NamedThing syndromic X-linked intellectual disability Shrimpton type X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. tmpak2llvmy_mondo_relaxed.owl mental retardation, X-linked, syndromic 9|intellectual disability, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type|MRXS9 DOID:0060813|UMLS:C2678039|ICD10:Q87.8|MESH:C567474|OMIM:300709|Orphanet:85324 owl:Class MONDO:0032696 biolink:NamedThing oocyte maturation defect 6 tmpak2llvmy_mondo_relaxed.owl OOMD6|OOCYTE MATURATION DEFECT 6 OMIM:618353 owl:Class NCBITaxon:2732397 biolink:NamedThing Pararnavirae tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001638 biolink:NamedThing protein-deficiency anemia tmpak2llvmy_mondo_relaxed.owl anemia due to protein deficiency DOID:13120|UMLS:C0154290|SCTID:191156009|ICD10:D53.0|ICD9:281.4 owl:Class MONDO:0024614 biolink:NamedThing neurotic depression A term used for any state of depression that is not psychotic. tmpak2llvmy_mondo_relaxed.owl neurotic depression NCIT:C35369 owl:Class MONDO:0030323 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 31 tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 31|SCAR31 OMIM:619422 owl:Class MONDO:0019527 biolink:NamedThing undifferentiated connective tissue syndrome An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. tmpak2llvmy_mondo_relaxed.owl undifferentiated connective tissue disease|UCTD NCIT:C116776|MedDRA:10071575|ICD10:M35.8|SCTID:239918008|UMLS:C0409999|Orphanet:90002 owl:Class MONDO:0007873 biolink:NamedThing lactic acidosis, chronic adult form tmpak2llvmy_mondo_relaxed.owl lactic acidosis, chronic adult form OMIM:150170|UMLS:C1835591|MESH:C563640 owl:Class MONDO:0030855 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 tmpak2llvmy_mondo_relaxed.owl OIEDS2|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2|OIEDS Syndrome 2 OMIM:619120 owl:Class MONDO:0019576 biolink:NamedThing telangiectasia macularis eruptiva perstans tmpak2llvmy_mondo_relaxed.owl SCTID:8214000|UMLS:C0263402|MedDRA:10043192|ICD10:Q82.2|Orphanet:90389|ICD9:448.9 owl:Class MONDO:0019877 biolink:NamedThing distal trisomy 2q Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. tmpak2llvmy_mondo_relaxed.owl distal trisomy type 2q|distal duplication 2q|telomeric duplication 2q|trisomy 2qter Orphanet:96094|ICD10:Q92.3|SCTID:763272003 owl:Class HGNC:2555 biolink:NamedThing CUL4B tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009487 biolink:NamedThing keratoconus and congenital hip dysplasia tmpak2llvmy_mondo_relaxed.owl keratoconus and congenital hip dysplasia UMLS:C1855647|OMIM:244510|MESH:C565456 owl:Class MONDO:0007120 biolink:NamedThing aniridia-absent patella syndrome Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. tmpak2llvmy_mondo_relaxed.owl aniridia absent patella|familial syndrome of aniridia and absence of the patella|aniridia and absent patella GARD:0000685|ICD10:Q87.8|UMLS:C1862868|OMIM:106220|Orphanet:1069|MESH:C566281 https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella owl:Class MONDO:0014301 biolink:NamedThing dowling-degos disease 3 tmpak2llvmy_mondo_relaxed.owl DDD3|Dowling-Degos disease 3 UMLS:C3810286|OMIM:615674 owl:Class MONDO:0001612 biolink:NamedThing carotid stenosis A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. tmpak2llvmy_mondo_relaxed.owl carotid artery stenosis|stenosis, carotid artery DOID:13001|NCIT:C95804|ICD9:433.10|MESH:D016893|SCTID:64586002|UMLS:C0007282|HP:0100546 owl:Class MONDO:0032907 biolink:NamedThing lymphatic malformation 8 tmpak2llvmy_mondo_relaxed.owl LMPHM8|LYMPHATIC MALFORMATION 8 OMIM:618773 owl:Class HGNC:11510 biolink:NamedThing SYT2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019458 biolink:NamedThing acute basophilic leukemia A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. tmpak2llvmy_mondo_relaxed.owl basophilic leukemia|leukemia basophilic SCTID:307592006|ICD10:C94.7|ONCOTREE:ABL|EFO:0003029|Orphanet:86849|UMLS:C0221292|NCIT:C3164|MESH:D015471|UMLS:C0023437|ICDO:9870/3 owl:Class MONDO:0019815 biolink:NamedThing accessory tricuspid valve tissue Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. tmpak2llvmy_mondo_relaxed.owl ICD10:Q22.8|Orphanet:95462 owl:Class MONDO:0006210 biolink:NamedThing fibrolamellar hepatocellular carcinoma A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. tmpak2llvmy_mondo_relaxed.owl fibrolamellar oncocytic hepatoma|polygonal cell hepatocellular carcinoma with fibrous stroma|fibrolamellar variant of hepatocellular carcinoma|polygonal cell type hepatocellular carcinoma with fibrous Stroma|oncocytic hepatocellular tumor|fibrolamellar carcinoma of liver cells|fibrolamellar carcinoma|liver cell fibrolamellar carcinoma|fibrolamellar hepatocellular carcinoma|FHCC|FLC|fibrolamellar hepatocarcinoma|hepatocellular carcinoma, fibrolamellar|fibrolamellar carcinoma of the liver cells|hepatocellular carcinoma with increased stromal fibrosis|eosinophilic hepatocellular carcinoma with lamellar fibrosis|FL-HCC|fibrolamellar cancer|hepatocellular fibrolamellar carcinoma|hepatocellular carcinoma (fibrolamellar variant)|eosinophilic glassy cell hepatoma Orphanet:401920|ONCOTREE:FLC|ICD10:C22.0|GARD:0009396|NCIT:C4131|EFO:1000256|MESH:C537258|SCTID:253018005|ICDO:8171/3|DOID:5015|UMLS:C0334287 owl:Class MONDO:0001518 biolink:NamedThing spastic entropion tmpak2llvmy_mondo_relaxed.owl ICD9:374.03|DOID:12395|SCTID:20828000|UMLS:C0155190 owl:Class MONDO:0100252 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 1 tmpak2llvmy_mondo_relaxed.owl Morbus Teutschlaender|Teutschlaender disease, familial|tumoral calcinosis, primary Hyperphosphatemic|tumoral calcinosis, hyperphosphatemic, familial, 1|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1|calcinosis, tumoral, with hyperphosphatemia|tumoral calcinosis, Hyperphosphatemic, familial, 1|tumoral calcinosis, hyperphosphatemic, familial|hyperostosis-hyperphosphatemia syndrome|HFTC|HFTC1 OMIM:211900 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004376 biolink:NamedThing infiltrating nipple syringomatous adenoma An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. tmpak2llvmy_mondo_relaxed.owl infiltrating nipple syringomatous adenoma|nipple syringomatous adenoma UMLS:C1518329|DOID:7839|NCIT:C40363 owl:Class HGNC:18021 biolink:NamedThing TMC6 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0012577 biolink:NamedThing asthma-related traits, susceptibility to, 4 tmpak2llvmy_mondo_relaxed.owl asthma-related traits, susceptibility to, 4|asthma-related traits, susceptibility to, type 4|asthma and allergic rhinitis, susceptibility to|ASRT4 OMIM:610906 owl:Class MONDO:0011448 biolink:NamedThing PPARG-related familial partial lipodystrophy tmpak2llvmy_mondo_relaxed.owl lipodystrophy, familial partial, type 3|lipodystrophy, familial partial, associated with Pparg mutations|FPLD3|familial partial lipodystrophy type 3|familial partial lipodystrophy associated with PPARG mutations|PPARG-related FPLD Orphanet:79083|OMIM:604367|DOID:0070204|GARD:0012600|ICD10:E88.1 owl:Class MONDO:0017603 biolink:NamedThing ALK-negative anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). tmpak2llvmy_mondo_relaxed.owl ALK- ALCL|anaplastic large cell lymphoma, ALK-negative|ALK- anaplastic large cell lymphoma|ALK-negative anaplastic large cell lymphoma|ALCL, ALK- EFO:1000083|NCIT:C37194|UMLS:C1332078|ICDO:9702/3|Orphanet:300903|ICD10:C84.7 owl:Class MONDO:0007625 biolink:NamedThing focal epithelial hyperplasia of the oral mucosa tmpak2llvmy_mondo_relaxed.owl focal epithelial hyperplasia of the oral mucosa OMIM:136400|MESH:C565008|UMLS:C1851009 owl:Class MONDO:0019032 biolink:NamedThing X-linked intellectual disability with isolated growth hormone deficiency tmpak2llvmy_mondo_relaxed.owl MRGH UMLS:C1848068|Orphanet:67045|ICD10:E23.0 owl:Class MONDO:0006397 biolink:NamedThing renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. tmpak2llvmy_mondo_relaxed.owl translocation-associated renal cell carcinoma|tRCC|Xp11.2 translocation-related renal cell carcinoma|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|TFE3-Rearranged renal cell carcinoma|renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions NCIT:C27891|UMLS:C1337036|ONCOTREE:TRCC|EFO:1000508|ICDO:0000/0 owl:Class MONDO:0013207 biolink:NamedThing corneal dystrophy, fuchs endothelial, 7 tmpak2llvmy_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 7|FECD7|Fcd4 locus OMIM:613271|UMLS:C2750447 owl:Class UBERON:0035132 biolink:NamedThing auditory ossicle pre-cartilage element tmpak2llvmy_mondo_relaxed.owl ossicle pre-cartilage condensation owl:Class MONDO:0017685 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia, type cblDv2 tmpak2llvmy_mondo_relaxed.owl vitamin B12-responsive methylmalonic aciduria, type cblDv2 ICD10:E71.1|Orphanet:308442|UMLS:CN203582 owl:Class MONDO:0001216 biolink:NamedThing pulp degeneration Deterioration of the normal pulp tissue. tmpak2llvmy_mondo_relaxed.owl SCTID:22361007|ICD9:522.2|ICD10:K04.2|UMLS:C0034100|DOID:11189 owl:Class MONDO:0023023 biolink:NamedThing neonatal dacryocystitis Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. tmpak2llvmy_mondo_relaxed.owl neonatal dacryocystitis|Neonatal dacryocystitis|Neonatal Dacryocystitis UMLS:C0270178|NCIT:C116819|SCTID:23735003 owl:Class MONDO:0024376 biolink:NamedThing sleep disorder, initiating and maintaining sleep tmpak2llvmy_mondo_relaxed.owl disorders of initiating and maintaining sleep SCTID:194437008 owl:Class MONDO:0023005 biolink:NamedThing double uterus-hemivagina-renal agenesis tmpak2llvmy_mondo_relaxed.owl GARD:0001910 https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis owl:Class HGNC:17024 biolink:NamedThing PHF11 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015416 biolink:NamedThing Tessier number 5 facial cleft tmpak2llvmy_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141261 owl:Class HGNC:11336 biolink:NamedThing SSX2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011197 biolink:NamedThing hereditary thermosensitive neuropathy Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. tmpak2llvmy_mondo_relaxed.owl neuropathy, hereditary thermosensitive Orphanet:84093|OMIM:602107|SCTID:715645004|ICD10:G60.0|UMLS:C1865856|MESH:C566575 owl:Class MONDO:0017071 biolink:NamedThing thoracolumbosacral spina bifida cystica tmpak2llvmy_mondo_relaxed.owl Orphanet:268752 owl:Class MONDO:0032597 biolink:NamedThing myasthenic syndrome, congenital, 24, presynaptic tmpak2llvmy_mondo_relaxed.owl MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC|CMS24 OMIM:618198 owl:Class HGNC:16501 biolink:NamedThing PDLIM4 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:18831 biolink:NamedThing CTHRC1 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:7180 biolink:NamedThing MN1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009967 biolink:NamedThing renal tubular acidosis 3 tmpak2llvmy_mondo_relaxed.owl RTA, dislocation type|renal tubular acidosis III|bicarbonate-wasting RTA|renal tubular acidosis type 3|renal tubular acidosis, distal, type 3|RTA, bicarbonate-wasting type MESH:C537759|OMIM:267200|GARD:0004670 owl:Class MONDO:0008017 biolink:NamedThing hereditary mucoepithelial dysplasia Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. tmpak2llvmy_mondo_relaxed.owl Hmd|Urban-Schosser-Spohn syndrome|mucoepithelial dysplasia, hereditary GARD:0005427|SCTID:403442005|ICD9:478.79|Orphanet:1839|MESH:C536476|OMIM:158310 https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia owl:Class UBERON:0001120 biolink:NamedThing left lobe of thyroid gland A lobe of thyroid gland that is in the left side of a thyroid gland. tmpak2llvmy_mondo_relaxed.owl lobus sinister (glandula thyroidea)|left thyroid lobe|thyroid gland left lobe owl:Class MONDO:0033664 biolink:NamedThing Kilquist syndrome An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. tmpak2llvmy_mondo_relaxed.owl KILQS OMIM:619080 owl:Class MONDO:0100060 biolink:NamedThing congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes. tmpak2llvmy_mondo_relaxed.owl NCIT:C178232 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0019177 biolink:NamedThing odontoleukodystrophy Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. tmpak2llvmy_mondo_relaxed.owl dentoleukoencephalopathy|leukodystrophy with oligodontia GARD:0009632|ICD10:E75.2|Orphanet:77295|SCTID:722064003 owl:Class MONDO:0005189 biolink:NamedThing internal carotid artery stenosis Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. tmpak2llvmy_mondo_relaxed.owl SCTID:233964008|Wikipedia:Carotid_artery_stenosis|ICD9:433.10|EFO:0002615 owl:Class MONDO:0018422 biolink:NamedThing autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. tmpak2llvmy_mondo_relaxed.owl SPG70 Orphanet:401835|ICD10:G11.4|UMLS:CN226129 owl:Class MONDO:0008372 biolink:NamedThing retinal aplasia tmpak2llvmy_mondo_relaxed.owl retinal aplasia|amaurosis congenita MESH:C566720|OMIM:179900|UMLS:C1867331 owl:Class MONDO:0008883 biolink:NamedThing brachydactyly, type A2, with microcephaly tmpak2llvmy_mondo_relaxed.owl brachydactyly, type A2, with microcephaly OMIM:211369|MESH:C565894|UMLS:C1859393 owl:Class MONDO:0007882 biolink:NamedThing lattice degeneration of retina leading to retinal detachment tmpak2llvmy_mondo_relaxed.owl lattice degeneration of retina leading to retinal detachment OMIM:150500|UMLS:C1835491|MESH:C563633 owl:Class MONDO:0100386 biolink:NamedThing acute myeloid leukemia, t(v;11q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.) tmpak2llvmy_mondo_relaxed.owl AML, t(v;11q23.3)|AML, t(V;11)(v;q23)|AML, t(11;v)(q23.3;v)|AML, 11q23.3 Translocation|AML, t(11;v)(q23;v)|AML, t(V;11)(v;q23.3) owl:Class MONDO:0018596 biolink:NamedThing systemic polyarteritis nodosa Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. tmpak2llvmy_mondo_relaxed.owl systemic periarteritis nodosa|systemic PAN ICD10:M30.0|Orphanet:439762|UMLS:CN242146 owl:Class MONDO:0016310 biolink:NamedThing Niemann-Pick disease type C, adult neurologic onset tmpak2llvmy_mondo_relaxed.owl ICD10:E75.2|UMLS:CN201116|Orphanet:216986 owl:Class MONDO:0001295 biolink:NamedThing idiopathic peripheral autonomic neuropathy tmpak2llvmy_mondo_relaxed.owl ICD9:337.0|DOID:11488|ICD10:G90.0|SCTID:86489003|ICD9:337.00|UMLS:C0154690|ICD10:G90.09 owl:Class MONDO:0009915 biolink:NamedThing 46,XX disorder of sex development-skeletal anomalies syndrome tmpak2llvmy_mondo_relaxed.owl female pseudohermaphroditism-skeletal anomalies syndrome|pseudohermaphroditism, female, with skeletal anomalies Orphanet:2975|MESH:C564869|OMIM:264270|ICD10:Q56.2|UMLS:C1849696 owl:Class MONDO:0007199 biolink:NamedThing blepharochalasis, superior tmpak2llvmy_mondo_relaxed.owl blepharochalasis, superior OMIM:110000|UMLS:C1862275|MESH:C566223 owl:Class SO:1000037 biolink:NamedThing chromosomal_duplication An extra chromosome. tmpak2llvmy_mondo_relaxed.owl (Drosophila)Dp|chromosomal duplication|(fungi)Dp owl:Class MONDO:0017225 biolink:NamedThing null syndrome The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome ICD10:E75.2|UMLS:CN202707|Orphanet:280234 owl:Class NCBITaxon:10088 biolink:NamedThing Mus tmpak2llvmy_mondo_relaxed.owl mice|mouse|Mus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030260 biolink:NamedThing pontocerebellar hypoplasia, type 1E tmpak2llvmy_mondo_relaxed.owl pontocerebellar hypoplasia, type 1E|PCH1E OMIM:619303 owl:Class MONDO:0008011 biolink:NamedThing antigen defined by monoclonal antibody T87 tmpak2llvmy_mondo_relaxed.owl Msk2|antigen defined by monoclonal antibody T87 OMIM:158040 owl:Class MONDO:0018375 biolink:NamedThing traumatic avascular necrosis tmpak2llvmy_mondo_relaxed.owl traumatic AVN Orphanet:399175|ICD10:M87.2 owl:Class MONDO:0027750 biolink:NamedThing serpinopathy with toxic serpin polymerization tmpak2llvmy_mondo_relaxed.owl 2022-03-01 Orphanet:250808 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: serpinopathy MONDO_0027749 owl:Class MONDO:0060527 biolink:NamedThing maleylacetoacetate isomerase deficiency tmpak2llvmy_mondo_relaxed.owl MAAID|MAAI deficiency|benign hypersuccinylacetonemia|maleylacetoacetate isomerase deficiency|hypersuccinylacetonemia, mild OMIM:617596|UMLS:C1291607 owl:Class MONDO:0010255 biolink:NamedThing diabetes mellitus, insulin-dependent, X-linked, susceptibility to tmpak2llvmy_mondo_relaxed.owl Iddmx|diabetes mellitus, insulin-dependent, X-linked, susceptibility to|insulin-dependent diabetes mellitus, X-linked, susceptibility to OMIM:300136|UMLS:C1848042 owl:Class NCBITaxon:3750 biolink:NamedThing Malus domestica tmpak2llvmy_mondo_relaxed.owl apple tree|Malus pumila var. domestica|apple|cultivated apple|Malus sylvestris var. domestica|Malus communis|Pyrus malus|Malus x domestica|Malus pumila auct. GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007242 biolink:NamedThing butyrylesterase 1 tmpak2llvmy_mondo_relaxed.owl butyrylesterase 1|Butyrylesterase type 1 OMIM:113960 owl:Class MONDO:0013871 biolink:NamedThing Seckel syndrome 6 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. tmpak2llvmy_mondo_relaxed.owl CEP63 Seckel syndrome|Seckel syndrome caused by mutation in CEP63|Seckel syndrome type 6|SCKL6|Seckel syndrome 6 UMLS:C3553582|DOID:0070006|OMIM:614728 owl:Class MONDO:0007770 biolink:NamedThing hyperpigmentation of Fuldauer and Kuijpers tmpak2llvmy_mondo_relaxed.owl hyperpigmentation of Fuldauer and Kuijpers OMIM:145200|UMLS:C1840393|MESH:C564164 owl:Class MONDO:0012883 biolink:NamedThing acute promyelocytic leukemia Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. tmpak2llvmy_mondo_relaxed.owl acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|leukemia, acute promyelocytic|acute myeloblastic leukemia type 3|acute myeloblastic leukemia 3|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|APML - acute promyelocytic leukemia|acute myeloid leukemia M3|promyelocytic leukemia|APL|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara|APML|acute promyelocytic leukemia|FAB M3|AML M3|acute promyelocytic leukemia with PML-rara|AML with t(15;17)(q22;q12)|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants GARD:0000538|MESH:D015473|EFO:0000224|ICD10:C92.40|ICDO:9866/3|MedDRA:10001019|UMLS:C0023487|Orphanet:520|SCTID:110004001|ICD10:C92.4|OMIM:612376|DOID:0060318|NCIT:C3182 owl:Class MONDO:0005640 biolink:NamedThing akinetic mutism A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) tmpak2llvmy_mondo_relaxed.owl Coma vigilans (finding)|Coma vigilans MESH:D000405|SCTID:53333005|DOID:4267|EFO:0007138|UMLS:C0001889 owl:Class MONDO:0022535 biolink:NamedThing autonomic facial cephalgia tmpak2llvmy_mondo_relaxed.owl Carotidynia|carotidynia|Carotodynia|Autonomic facial cephalgia UMLS:C0238902|SCTID:230482003|ICD9:337.09|GARD:0010369 owl:Class MONDO:0018030 biolink:NamedThing tetrasomy 9p Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). tmpak2llvmy_mondo_relaxed.owl tetrasomy type 9p|Isochromosome 9p|tetrasomy of short arm of chromosome 9|Mosaic tetrasomy 9p|chromosome 9p tetrasomy ICD10:Q99.8|UMLS:C0795832|GARD:0000042|SCTID:715530004|Orphanet:3310|MESH:C538027 https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p owl:Class MONDO:0033308 biolink:NamedThing Joubert syndrome 30 tmpak2llvmy_mondo_relaxed.owl JBTS30|Joubert syndrome 30 DOID:0080275|OMIM:617622 owl:Class MONDO:0007170 biolink:NamedThing atresia of external auditory canal and conductive deafness tmpak2llvmy_mondo_relaxed.owl atresia of external auditory canal and conductive deafness OMIM:108760|UMLS:C3276095 owl:Class MONDO:0032798 biolink:NamedThing ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features tmpak2llvmy_mondo_relaxed.owl IKSHD|ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES OMIM:618527 owl:Class MONDO:0012623 biolink:NamedThing intellectual disability, autosomal recessive 4 tmpak2llvmy_mondo_relaxed.owl mental retardation, autosomal recessive 4|MRT4|intellectual disability, autosomal recessive 4 OMIM:611107|UMLS:C1970179|MESH:C567008 owl:Class MONDO:0054782 biolink:NamedThing leukodystrophy, hypomyelinating, 15 tmpak2llvmy_mondo_relaxed.owl leukodystrophy, hypomyelinating, 15|HLD15 UMLS:CN244566|OMIM:617951 owl:Class MONDO:0043106 biolink:NamedThing ichthyosis linearis circumflexa tmpak2llvmy_mondo_relaxed.owl ichthyosis linearis circumflexa SCTID:54336006|GARD:0002967 owl:Class MONDO:0022634 biolink:NamedThing camptodactyly vertebral fusion tmpak2llvmy_mondo_relaxed.owl camptodactyly and sacral vertebral fusion (subtype)|camptodactyly and sacral vertebral fusion GARD:0001070|UMLS:C2931682|MESH:C537973 https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion owl:Class MONDO:0012441 biolink:NamedThing migraine with or without aura, susceptibility to, 11 tmpak2llvmy_mondo_relaxed.owl migraine with or without aura, susceptibility to, 11|migraine with or without aura, susceptibility to, type 11|Mgr11 OMIM:610209 owl:Class HGNC:6816 biolink:NamedThing MAK tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017172 biolink:NamedThing mucopolysaccharidosis type 6, slowly progressing tmpak2llvmy_mondo_relaxed.owl MPS6, slowly progressing|mucopolysaccharidosis type VI, slowly progressing|MPSVI, slowly progressing|arylsulfatase B deficiency, slowly progressing ICD10:E76.2|Orphanet:276223|UMLS:CN202601 owl:Class MONDO:0003672 biolink:NamedThing posterior myocardial infarction tmpak2llvmy_mondo_relaxed.owl true posterior wall infarction|true posterior myocardial infarction DOID:5847|SCTID:194802003|UMLS:C0264706 owl:Class MONDO:0100059 biolink:NamedThing hypereosinophilia of undetermined significance Long-lasting, unexplained and asymptomatic blood hypereosinophilia. tmpak2llvmy_mondo_relaxed.owl HEUS|benign eosinophilia 2018-09-12 23:02:52+00:00 owl:Class MONDO:0001219 biolink:NamedThing serous conjunctivitis except viral tmpak2llvmy_mondo_relaxed.owl serous conjunctivitis, except viral DOID:11197|ICD9:372.01|SCTID:9824006|ICD10:H10.23|UMLS:C0155142 owl:Class MONDO:0018433 biolink:NamedThing acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. tmpak2llvmy_mondo_relaxed.owl AML with t(6;9)(p23;q34) Orphanet:402014|ICD10:C92.0 owl:Class MONDO:0000293 biolink:NamedThing coenurosis A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. tmpak2llvmy_mondo_relaxed.owl infection by larvae of multiceps|sturdy|coenurosis|caenurosis|infection by tapeworm larva|coenuriasis SCTID:24360007|DOID:0050251|UMLS:C0009225|ICD9:123.8 owl:Class MONDO:0010954 biolink:NamedThing Wiskott-Aldrich syndrome, autosomal dominant form tmpak2llvmy_mondo_relaxed.owl Wiskott-Aldrich syndrome, autosomal dominant form UMLS:C1833170|MESH:C563431|OMIM:600903 owl:Class GO:0060005 biolink:NamedThing vestibular reflex A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness. tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0018507 biolink:NamedThing microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. tmpak2llvmy_mondo_relaxed.owl UMLS:CN237512|ICD10:G60.0|Orphanet:423894 owl:Class MONDO:0008739 biolink:NamedThing agenesis of cerebral white matter tmpak2llvmy_mondo_relaxed.owl agenesis of cerebral white matter OMIM:202600 owl:Class MONDO:0016787 biolink:NamedThing epithelioid trophoblastic tumor An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. tmpak2llvmy_mondo_relaxed.owl epithelioid trophoblastic tumor|ETT Orphanet:254698|ICD10:D39.2|SCTID:609515005|UMLS:C1266159|ONCOTREE:ETT|ICDO:9105/3|DOID:3593|NCIT:C6900 owl:Class MONDO:0007684 biolink:NamedThing granulomatous disease, chronic, autosomal dominant type tmpak2llvmy_mondo_relaxed.owl granulomatous disease, chronic, autosomal dominant type 2021-01-01 DOID:0070190|UMLS:C1841825|OMIM:138990|MESH:C564210 Reason: duplicate. This will be merged with MONDO:0010600 granulomatous disease, chronic, X-linked owl:Class MONDO:0020655 biolink:NamedThing juvenile ankylosing spondylitis tmpak2llvmy_mondo_relaxed.owl DOID:0040092|SCTID:239805001 owl:Class MONDO:0060549 biolink:NamedThing congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay tmpak2llvmy_mondo_relaxed.owl CAKUTHED|congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay OMIM:617641|UMLS:C4539968 owl:Class MONDO:0011734 biolink:NamedThing Cardioneuromyopathy with hyaline masses and nemaline rods tmpak2llvmy_mondo_relaxed.owl Cardioneuromyopathy with hyaline masses and nemaline rods UMLS:C1847387|OMIM:606842|MESH:C564655 owl:Class MONDO:0010673 biolink:NamedThing modifier, X-linked, for Neurofunctional defects tmpak2llvmy_mondo_relaxed.owl Tourette syndrome, modifier of|modifier, X-linked, for Neurofunctional defects UMLS:C1839708|MESH:C564098|OMIM:309840 owl:Class MONDO:0012230 biolink:NamedThing myopia 10 tmpak2llvmy_mondo_relaxed.owl myopia 10|MYP10 OMIM:609259|MESH:C563758|UMLS:C1836503 owl:Class MONDO:0008384 biolink:NamedThing rheumatoid nodulosis A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. tmpak2llvmy_mondo_relaxed.owl accelerated rheumatoid nodulosis|rheumatoid nodulosis UMLS:C1304215|SCTID:402427003|GARD:0009625|OMIM:180350|SCTID:402426007|MESH:D012218 https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis owl:Class MONDO:0007605 biolink:NamedThing fibrinolytic defect tmpak2llvmy_mondo_relaxed.owl fibrinolytic defect MESH:C565017|UMLS:C1851184|OMIM:134900 owl:Class MONDO:0019392 biolink:NamedThing syringocystadenoma papilliferum A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. tmpak2llvmy_mondo_relaxed.owl papillary Syringadenoma (syringocystadenoma papilliferum)|Syringadenoma papilliferum|SCAP|fistulous vegetative verrucous hydradenoma|naevus syringocystadenomatosus papilliferus|papillary Syringadenoma|syringocystadenoma papilliferum|papillary syringadenoma (morphologic abnormality)|papillary syringocystadenoma|Syringadenoma GARD:0005100|SCTID:239121009|NCIT:C4172|EFO:1000558|UMLS:C0406803|ICDO:8406/0|ICD10:D23.9|DOID:5445|Orphanet:840|MedDRA:10042926 owl:Class MONDO:0032584 biolink:NamedThing ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis tmpak2llvmy_mondo_relaxed.owl ECTD14|ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS DOID:0111662|OMIM:618180 owl:Class MONDO:0023226 biolink:NamedThing gershinibaruch Leibo syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002464 https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome owl:Class MONDO:0001625 biolink:NamedThing corpus luteum cyst A ovarian cyst (disease) that involves the corpus luteum. tmpak2llvmy_mondo_relaxed.owl corpus luteum ovarian cyst (disease)|ovarian cyst (disease) of corpus luteum ICD10:N83.1|SCTID:386762009|ICD9:620.1|DOID:13050 owl:Class MONDO:0009122 biolink:NamedThing Dohle bodies and leukemia tmpak2llvmy_mondo_relaxed.owl Dohle bodies and leukemia UMLS:C1857225|MESH:C565617|OMIM:223350 owl:Class MONDO:0008629 biolink:NamedThing urolithiasis, uric acid, autosomal dominant tmpak2llvmy_mondo_relaxed.owl urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant DOID:0080654|OMIM:191700 owl:Class MONDO:0011319 biolink:NamedThing activator of liver function 1 tmpak2llvmy_mondo_relaxed.owl activator of liver function 1|ALFN1|Half1|activator of liver function type 1|ribosomal PROTEIN L21 pseudogene 1|RPL21P1|ribosomal Protein L21 pseudogene 1 OMIM:603416 owl:Class MONDO:0100021 biolink:NamedThing photosensitive occipital lobe epilepsy A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. tmpak2llvmy_mondo_relaxed.owl 2018-06-22 22:48:33+00:00 owl:Class UBERON:0001082 biolink:NamedThing epicardium of ventricle An epicardial layer that lines a cardiac ventricle tmpak2llvmy_mondo_relaxed.owl ventricular epicardium|cardiac ventricle epicardium owl:Class MONDO:0010729 biolink:NamedThing X-linked intellectual disability, Schimke type X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. tmpak2llvmy_mondo_relaxed.owl choreoathetosis with intellectual disability X- linked|Schimke X-linked mental retardation syndrome|choreoathetosis with intellectual disability, X-linked|Schimke X-linked intellectual disability syndrome|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|choreoathetosis with mental retardation, X-linked|choreoathetosis with mental retardation X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness ICD10:Q87.8|Orphanet:85285|OMIM:312840|SCTID:719010001|UMLS:C1839320|GARD:0009288|MESH:C536630 owl:Class MONDO:0032909 biolink:NamedThing mitochondrial complex 3 deficiency, nuclear type 10 tmpak2llvmy_mondo_relaxed.owl MC3DN10|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 OMIM:618775 owl:Class MONDO:0011126 biolink:NamedThing acute insulin response tmpak2llvmy_mondo_relaxed.owl Air|acute insulin response OMIM:601676 owl:Class HGNC:2211 biolink:NamedThing COL6A1 tmpak2llvmy_mondo_relaxed.owl owl:Class CHEBI:73913 biolink:NamedThing antifolate An antimetabolite that impairs the action of folic acids tmpak2llvmy_mondo_relaxed.owl folic acid antagonist|antifolates|folic acid antagonists owl:Class MONDO:0011349 biolink:NamedThing osteoma of cranial vault, familial tmpak2llvmy_mondo_relaxed.owl osteoma of cranial vault, familial UMLS:C1863677|OMIM:603600|MESH:C566356 owl:Class MONDO:0009936 biolink:NamedThing familial primary pulmonary hypoplasia Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. tmpak2llvmy_mondo_relaxed.owl lung agenesis|primary pulmonary hypoplasia|pulmonary hypoplasia, primary ICD10:Q33.6|UMLS:CN226916|SCTID:277656005|Orphanet:2257|OMIM:265430|ICD9:748.5 owl:Class GO:0018215 biolink:NamedThing protein phosphopantetheinylation The modification of a protein amino acid by phosphopantetheinylation. tmpak2llvmy_mondo_relaxed.owl protein amino acid phosphopantetheinylation owl:Class MONDO:0000757 biolink:NamedThing glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. tmpak2llvmy_mondo_relaxed.owl steroid-induced osteoporosis DOID:0060343 owl:Class MONDO:0009250 biolink:NamedThing fructose utilization tmpak2llvmy_mondo_relaxed.owl fructose utilization OMIM:229650 owl:Class MONDO:0021574 biolink:NamedThing oocyte maturation defect 3 tmpak2llvmy_mondo_relaxed.owl oocyte maturation defect 3|OOMD3 OMIM:617712 owl:Class MONDO:0016725 biolink:NamedThing pineal parenchymal tumor of intermediate differenciation Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. tmpak2llvmy_mondo_relaxed.owl ICD10:D44.5|Orphanet:251919|UMLS:CN201973 owl:Class MONDO:0012696 biolink:NamedThing otosclerosis 4 tmpak2llvmy_mondo_relaxed.owl otosclerosis 4|OTSC4 MESH:C566914|UMLS:C1969046|OMIM:611571 owl:Class HGNC:4455 biolink:NamedThing GPD1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011432 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Verloes type tmpak2llvmy_mondo_relaxed.owl BMRS, Verloes type|blepharophimosis-intellectual disability syndrome type V|blepharophimosis with facial and genital anomalies and mental retardation|blepharophimosis-intellectual disability syndrome, Verloes type|BMRS type V|blepharophimosis with facial and genital anomalies and intellectual disability|blepharophimosis-mental retardation syndrome, Verloes type Orphanet:293725|MESH:C565797|OMIM:604314|UMLS:C1858538 owl:Class MONDO:0011320 biolink:NamedThing radioulnar synostosis-microcephaly-scoliosis syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. tmpak2llvmy_mondo_relaxed.owl radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation|Giuffré-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|Giuffre-Tsukahara syndrome|GiuffrC)-Tsukahara syndrome|radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|Tsukahara syndrome OMIM:603438|Orphanet:3268|UMLS:C1863881|GARD:0000394 owl:Class HGNC:7481 biolink:NamedThing MT-TF tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0030007 biolink:NamedThing combined oxidative phosphorylation deficiency 41 tmpak2llvmy_mondo_relaxed.owl COXPD41|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41|combined oxidative phosphorylation deficiency 41 OMIM:618838 owl:Class MONDO:0022456 biolink:NamedThing ankle defects short stature tmpak2llvmy_mondo_relaxed.owl GARD:0000694 https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature owl:Class MONDO:0017700 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form tmpak2llvmy_mondo_relaxed.owl GSD type 4, childhood neuromuscular form|glycogen storage disease type IV, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|GSDIV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form ICD10:E74.0|UMLS:C1856305|Orphanet:308698 owl:Class MONDO:0008985 biolink:NamedThing ciliary dyskinesia with transposition of ciliary microtubules tmpak2llvmy_mondo_relaxed.owl ciliary dyskinesia, due to transposition of ciliary microtubules|ciliary dyskinesia with transposition of ciliary microtubules UMLS:C2673817|GARD:0001361|OMIM:215520|MESH:C567137 owl:Class MONDO:0003075 biolink:NamedThing bilateral retinoblastoma Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. tmpak2llvmy_mondo_relaxed.owl DOID:4650|UMLS:C0854914|NCIT:C8713 owl:Class SO:0001877 biolink:NamedThing lncRNA A non-coding RNA over 200nucleotides in length. tmpak2llvmy_mondo_relaxed.owl INSDC_feature:ncRNA|INSDC_qualifier:lncRNA|lncRNA_transcript|long non-coding RNA owl:Class UBERON:8410057 biolink:NamedThing capillary of colon A capillary that is part of the colon. tmpak2llvmy_mondo_relaxed.owl blood vessel capillary of colon owl:Class MONDO:0012973 biolink:NamedThing inflammatory bowel disease 26 An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease type 26|IBD26|inflammatory bowel disease 26 UMLS:C2675249|MESH:C567217|OMIM:612639|DOID:0110901 owl:Class MONDO:0004354 biolink:NamedThing neonatal leukemia Leukemia that occurs during the neonatal period. tmpak2llvmy_mondo_relaxed.owl neonatal leukemia NCIT:C3845|UMLS:C0235813|DOID:7756 owl:Class MONDO:0017602 biolink:NamedThing ALK-positive anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). tmpak2llvmy_mondo_relaxed.owl ALK+ anaplastic large cell lymphoma|ALKoma|ALCL, ALK+|anaplastic large cell lymphoma, ALK-positive|ALK+ ALCL|ALK-positive anaplastic large cell lymphoma ICD10:C84.6|Orphanet:300895|NCIT:C37193|UMLS:C1332079|ICDO:9714/3 owl:Class MONDO:0011552 biolink:NamedThing schizophrenia 10 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. tmpak2llvmy_mondo_relaxed.owl SCZD10|schizophrenia susceptibility locus, chromosome 15Q15-related|schizophrenia 10|catatonia, periodic DOID:0070086|OMIM:605419|MESH:D012560 owl:Class MONDO:0011037 biolink:NamedThing renal dysplasia, cystic, susceptibility to tmpak2llvmy_mondo_relaxed.owl renal dysplasia, cystic, susceptibility to|CYSRD|diffuse cystic renal dysplasia|renal dysplasia diffuse cystic OMIM:601331|DOID:0111682|MESH:C537755|GARD:0004658 owl:Class MONDO:0005581 biolink:NamedThing AVL induced bursal lymphoma Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds. tmpak2llvmy_mondo_relaxed.owl EFO:0005923 owl:Class MONDO:0001862 biolink:NamedThing malignant visceral pleura tumor tmpak2llvmy_mondo_relaxed.owl primary malignant neoplasm of visceral pleura DOID:14033|SCTID:94140004|UMLS:C0153496 owl:Class MONDO:0011015 biolink:NamedThing cataract 24 A cataract that has material basis in variation in the region 17p13. tmpak2llvmy_mondo_relaxed.owl cataract 24, anterior polar|CTRCT24|cataract, anterior polar, 2|anterior polar cataract 24|CTAA2|anterior polar cataract 2|cataract 24|cataract type 24 DOID:0110257|UMLS:C1832609|ICD10:Q12.0|MESH:C537774|OMIM:601202 owl:Class MONDO:0002107 biolink:NamedThing unilateral hyperactive labyrinth tmpak2llvmy_mondo_relaxed.owl hyperactive labyrinth, unilateral|hyperactive unilateral labyrinthine dysfunction ICD9:386.51|UMLS:C0155515|DOID:1777 owl:Class MONDO:0007616 biolink:NamedThing fibula, recurrent dislocation of head of tmpak2llvmy_mondo_relaxed.owl fibula, recurrent dislocation of head of UMLS:C1851099|OMIM:135800|MESH:C565011 owl:Class MONDO:0016638 biolink:NamedThing familial hypodysfibrinogenemia tmpak2llvmy_mondo_relaxed.owl Orphanet:248408|UMLS:CN201839|ICD10:D68.2 owl:Class MONDO:0004418 biolink:NamedThing microcystic variant infiltrating bladder urothelial carcinoma tmpak2llvmy_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, microcystic variant UMLS:C1512740|NCIT:C39820|DOID:7971 owl:Class HGNC:6700 biolink:NamedThing LRP8 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0004665 biolink:NamedThing nodular sclerosis classical Hodgkin lymphoma A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl NSHL|Hodgkin's disease, nodular sclerosis|NSCHL|Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin's lymphoma|Hodgkin lymphoma, nodular sclerosis|nodular sclerosis Hodgkin's disease|nodular sclerosis Classic Hodgkin lymphoma|classical Hodgkin lymphoma, nodular sclerosis|Hodgkin's lymphoma, nodular sclerosis|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|NSHD|nodular sclerosis classical Hodgkin lymphoma|Hodgkin's disease, nodular sclerosis of unspecified site|nodular sclerosis Hodgkin lymphoma|Hodgkin's nodular sclerosis DOID:8838|NCIT:C3518|ICDO:9663/3|ICD10:C81.1|EFO:0004708|SCTID:118608000|ICD9:201.5|ONCOTREE:NSCHL owl:Class MONDO:0000458 biolink:NamedThing proneural glioblastoma A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. tmpak2llvmy_mondo_relaxed.owl glioblastoma proneural subtype|proneural glioblastoma UMLS:C3828464|NCIT:C111692|DOID:0050804 owl:Class MONDO:0054781 biolink:NamedThing combined oxidative phosphorylation deficiency 36 tmpak2llvmy_mondo_relaxed.owl combined oxidative phosphorylation deficiency 36|COXPD36 OMIM:617950|DOID:0111482|UMLS:CN244569 owl:Class MONDO:0018156 biolink:NamedThing 3q26q27 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl monosomy 3q26q27|3q26-q27microdeletion syndrome|monosomy 3q26-q27|Del(3)(q26q27) Orphanet:356947|UMLS:CN204590|ICD10:Q93.5 owl:Class MONDO:0001497 biolink:NamedThing male genital organ vascular disease tmpak2llvmy_mondo_relaxed.owl vascular disorder of male genital organs SCTID:198057005|UMLS:C0042374|ICD10:N50.1|ICD9:608.83|DOID:12335 owl:Class MONDO:0010853 biolink:NamedThing Helicobacter pylori infection, susceptibility to tmpak2llvmy_mondo_relaxed.owl Helicobacter pylori infection, susceptibility to UMLS:C1838332|OMIM:600263 owl:Class MONDO:0003108 biolink:NamedThing cervicomedullary junction neoplasm tmpak2llvmy_mondo_relaxed.owl tumor of cervicomedullary junction|tumor of the cervicomedullary junction|cervicomedullary junction neoplasms|neoplasm of the cervicomedullary junction|cervicomedullary junction tumor|neoplasm of cervicomedullary junction UMLS:C1332923|DOID:4707|NCIT:C5423 owl:Class MONDO:0011343 biolink:NamedThing follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts tmpak2llvmy_mondo_relaxed.owl follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts OMIM:603587|MESH:C566360|UMLS:C1863692 owl:Class MONDO:0011795 biolink:NamedThing anonychia-microcephaly syndrome Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. tmpak2llvmy_mondo_relaxed.owl Teebi-Kaurah syndrome|total anonychia congenita and microcephaly|anonychia, total, with microcephaly|anonychia total with microcephaly|total anonychia with microcephaly OMIM:607214|Orphanet:1094|ICD10:Q87.8|SCTID:720494009|GARD:0000709 https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly owl:Class MONDO:0003590 biolink:NamedThing fibroblastic liposarcoma A liposarcoma characterized by the presence of a fibroblastic component. tmpak2llvmy_mondo_relaxed.owl fibroblastic liposarcoma|fibroblastic liposarcoma (morphologic abnormality) NCIT:C6509|DOID:5698|UMLS:C1266130|ICDO:8857/3 owl:Class MONDO:0016534 biolink:NamedThing infundibulo-neurohypophysitis tmpak2llvmy_mondo_relaxed.owl ICD10:E23.6|Orphanet:238305 owl:Class MONDO:0032647 biolink:NamedThing global developmental delay, lung cysts, overgrowth, and wilms tumor tmpak2llvmy_mondo_relaxed.owl GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR|GLOW|Glow Syndrome OMIM:618272 owl:Class MONDO:0006829 biolink:NamedThing leukemoid reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. tmpak2llvmy_mondo_relaxed.owl MESH:D007955|EFO:1001014|ICD10:D72.823|SCTID:56478004|MedDRA:10024373|ICD9:288.62|UMLS:C0023501|ICD9:288.8 Represents a finding, may be obsoleted. owl:Class MONDO:0017117 biolink:NamedThing congenital non-communicating hydrocephalus tmpak2llvmy_mondo_relaxed.owl congenital obstructive hydrocephalus ICD10:Q03.2|SCTID:762295002|ICD10:Q03.8|Orphanet:269510|ICD10:Q03.1 owl:Class MONDO:0016206 biolink:NamedThing idiopathic uveal effusion syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:209956|UMLS:CN200962 owl:Class MONDO:0054700 biolink:NamedThing proteasome-associated autoinflammatory syndrome 2 tmpak2llvmy_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 2|PRAAS2 OMIM:618048|UMLS:CN252342 owl:Class HGNC:5464 biolink:NamedThing IGF1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0009456 biolink:NamedThing Immunoerythromyeloid hypoplasia tmpak2llvmy_mondo_relaxed.owl Immunoerythromyeloid hypoplasia OMIM:242880|UMLS:CN074232 owl:Class MONDO:0007760 biolink:NamedThing hyperlipoproteinemia, type II, and deafness tmpak2llvmy_mondo_relaxed.owl hyperlipoproteinemia, type II, and deafness OMIM:144300|MESH:C564170|UMLS:C1840425 owl:Class HP:0200042 biolink:NamedThing Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. tmpak2llvmy_mondo_relaxed.owl Open skin sore SNOMEDCT_US:46742003|MEDDRA:10040943|UMLS:C0037299|MSH:D012883 sebastiankohler 2010-06-18T02:17:00Z human_phenotype owl:Class MONDO:0022338 biolink:NamedThing ALK+ histiocytosis tmpak2llvmy_mondo_relaxed.owl anaplastic lymphoma kinase positive histiocytosis GARD:0010577 https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis owl:Class HP:0002153 biolink:NamedThing Hyperkalemia An abnormally increased potassium concentration in the blood. tmpak2llvmy_mondo_relaxed.owl Elevated serum potassium levels SNOMEDCT_US:14140009|SNOMEDCT_US:238142003|SNOMEDCT_US:166689004|MSH:D006947|UMLS:C0020461 human_phenotype owl:Class MONDO:0017560 biolink:NamedThing congenital genu recurvatum An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. tmpak2llvmy_mondo_relaxed.owl hyperextension deformity of knee|hyperextension of knee deformity|genu recurvatum Orphanet:295229|NCIT:C103184|ICD10:Q68.2|ICD9:754.40|SCTID:205063003 owl:Class MONDO:0009673 biolink:NamedThing spinal muscular atrophy, type II Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpak2llvmy_mondo_relaxed.owl spinal muscular atrophy type 2|spinal muscular atrophy, type II|SMA-II|SMA2|SMA II|muscular atrophy, spinal, infantile chronic form|spinal muscular atrophy, type 2|proximal spinal muscular atrophy type 2|chronic spinal muscular atrophy|muscular atrophy, spinal, Intermediate type|SMA type 2|Intermediate spinal muscular atrophy|chronic infantile spinal muscular atrophy|muscular atrophy, spinal, intermediate type|Sma 2|SMA type II|Dubowitz disease|spinal muscular atrophy type II ICD9:335.19|OMIM:253550|DOID:0050530|GARD:0004945|MESH:C536879|SCTID:128212001|Orphanet:83418|ICD10:G12.1 owl:Class MONDO:0033013 biolink:NamedThing erythrokeratodermia variabilis et progressiva 3 tmpak2llvmy_mondo_relaxed.owl erythrokeratodermia variabilis ET progressiva 3|EKVP3 UMLS:C4479619|DOID:0080249|OMIM:617525 owl:Class MONDO:0020569 biolink:NamedThing intermediate DEND syndrome Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. tmpak2llvmy_mondo_relaxed.owl developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form UMLS:CN207495|Orphanet:99989 owl:Class MONDO:0010852 biolink:NamedThing chromosome 8Q12.1-q21.2 deletion syndrome tmpak2llvmy_mondo_relaxed.owl chromosome 8Q12.1-q21.2 deletion syndrome|Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|bor-Duane hydrocephalus contiguous Gene syndrome GARD:0010002|UMLS:C1838346|OMIM:600257|MESH:C536574 owl:Class HGNC:5212 biolink:NamedThing HSD17B3 tmpak2llvmy_mondo_relaxed.owl owl:Class HGNC:6086 biolink:NamedThing INSL3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0016977 biolink:NamedThing moderately-differentiated thymic neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl Orphanet:263335|ICD10:C37|UMLS:CN202279 owl:Class HGNC:15965 biolink:NamedThing DAZ3 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0032925 biolink:NamedThing respiratory papillomatosis, juvenile recurrent, congenital tmpak2llvmy_mondo_relaxed.owl JRRP|RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL OMIM:618803 owl:Class MONDO:0019320 biolink:NamedThing acanthokeratolytic verrucous nevus tmpak2llvmy_mondo_relaxed.owl verrucous nevus acanthokeratolytic Orphanet:79468|GARD:0005485|UMLS:CN205975|ICD10:Q82.5 https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic owl:Class MONDO:0004856 biolink:NamedThing rosacea conjunctivitis tmpak2llvmy_mondo_relaxed.owl ICD9:372.31|UMLS:C0155152|DOID:9709|SCTID:10128002 owl:Class HGNC:16973 biolink:NamedThing PPP1R17 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006711 biolink:NamedThing constrictive pericarditis A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. tmpak2llvmy_mondo_relaxed.owl constrictive pericarditis|constrictive pericarditis (disease) constrictive pericarditis (disease) MedDRA:10010783|HP:0002563|ICD9:423.2|UMLS:C0031048|MESH:D010494|DOID:11481|NCIT:C78246|SCTID:85598007|EFO:1000878 owl:Class MONDO:0043904 biolink:NamedThing leishmaniasis, diffuse cutaneous A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. tmpak2llvmy_mondo_relaxed.owl cheloid leishmaniasis|diffuse cutaneous Leishmaniases|lepromatous cutaneous leishmaniasis|cutaneous leishmaniasis, diffuse|diffuse cutaneous leishmaniasis|Leishmaniases, diffuse cutaneous|leproid leishmaniasis|dcl - diffuse cutaneous leishmaniasis|cutaneous Leishmaniases, diffuse MESH:D016774|SCTID:38573008 owl:Class MONDO:0008351 biolink:NamedThing pupil, egg-shaped tmpak2llvmy_mondo_relaxed.owl pupil, egg-shaped|ovoid pupils|egg shaped pupils MESH:C566731|GARD:0008291|OMIM:178800 https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils owl:Class MONDO:0007939 biolink:NamedThing malignant hyperthermia, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl MHS2|malignant hyperpyrexia susceptibility type 2|malignant hyperthermia, susceptibility to, type 2|Mhs2|malignant hyperthermia susceptibility type 2|malignant hyperthermia, susceptibility to, 2 OMIM:154275|GARD:0003364|MESH:C535695 https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 owl:Class MONDO:0012838 biolink:NamedThing inflammatory bowel disease 16 An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. tmpak2llvmy_mondo_relaxed.owl inflammatory bowel disease 16|IBD16|inflammatory bowel disease type 16 OMIM:612259|UMLS:C2677093|DOID:0110896|MESH:C567380 owl:Class HP:0000859 biolink:NamedThing Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. tmpak2llvmy_mondo_relaxed.owl Elevated plasma aldosterone|Increased aldosterone production|Mineralocorticoid excess|Increased aldosterone SNOMEDCT_US:88213004|UMLS:C0020428|MSH:D006929 HP:0004318|HP:0005975 human_phenotype owl:Class MONDO:0008456 biolink:NamedThing spinocerebellar ataxia with rigidity and peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl spinocerebellar ataxia with rigidity and peripheral neuropathy UMLS:C1866770|MESH:C566669|OMIM:183050 owl:Class MONDO:0023094 biolink:NamedThing exogenous ochronosis Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. tmpak2llvmy_mondo_relaxed.owl pseudo-ochronosis|ocular ochronosis|ochronosis, acquired|exogenous ochronosis SCTID:410041002|ICD9:270.2|GARD:0010757|MESH:C531762 https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis owl:Class MONDO:0017408 biolink:NamedThing rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. tmpak2llvmy_mondo_relaxed.owl ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD|ROHHADNET|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation UMLS:C4053506|GARD:0010407|Orphanet:293987|NCIT:C121944|UMLS:CN203158 owl:Class MONDO:0004819 biolink:NamedThing indolent plasma cell myeloma tmpak2llvmy_mondo_relaxed.owl indolent myeloma|indolent multiple myeloma|indolent plasma cell myeloma DOID:9550|SCTID:441313008|UMLS:C2049069|NCIT:C7150 owl:Class MONDO:0011207 biolink:NamedThing xanthomatosis, susceptibility to tmpak2llvmy_mondo_relaxed.owl xanthomatosis, susceptibility to UMLS:C1865704|OMIM:602247 owl:Class MONDO:0010904 biolink:NamedThing setting-Sun phenomenon, familial benign tmpak2llvmy_mondo_relaxed.owl setting-Sun phenomenon, familial benign UMLS:C1833577|OMIM:600598|MESH:C563470 owl:Class MONDO:0004909 biolink:NamedThing urethral gland abscess tmpak2llvmy_mondo_relaxed.owl SCTID:444820005|ICD9:597.0|DOID:9877|ICD10:N34.0 owl:Class MONDO:0012895 biolink:NamedThing torsion dystonia 17 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12. tmpak2llvmy_mondo_relaxed.owl torsion dystonia type 17|primary dystonia, DYT17 type|DYT17|dystonia 17, torsion, autosomal recessive ICD10:G24.1|MESH:C567319|OMIM:612406|UMLS:C2676281|Orphanet:370103|DOID:0090042 owl:Class MONDO:0007175 biolink:NamedThing PR interval, variation 1N tmpak2llvmy_mondo_relaxed.owl PR interval, variation type 1N|PR interval, variation IN|Atrioventricular conduction time, variation 1N UMLS:C3152251|OMIM:108980 owl:Class MONDO:0007755 biolink:NamedThing hyperimmunoglobulin G1(A1) syndrome tmpak2llvmy_mondo_relaxed.owl hyperimmunoglobulin G1(A1) syndrome|Immunoglobulin heavy chain regulator UMLS:C1840429|OMIM:144120|MESH:C564173 owl:Class MONDO:0017546 biolink:NamedThing congenital vertical talus, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295201|ICD10:Q66.8 owl:Class MONDO:0000912 biolink:NamedThing autosomal recessive nonsyndromic deafness 5 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. tmpak2llvmy_mondo_relaxed.owl DFNB5|deafness, autosomal recessive 5|autosomal recessive nonsyndromic deafness type 5|autosomal recessive deafness 5|neurosensory nonsyndromic recessive deafness 5 UMLS:C1833319|DOID:0110507|OMIM:600792|MESH:C563444|ICD10:H90.3 owl:Class HGNC:7495 biolink:NamedThing MT-TQ tmpak2llvmy_mondo_relaxed.owl owl:Class GO:0060590 biolink:NamedThing ATPase regulator activity Binds to and modulates the activity of an ATP hydrolysis activity. tmpak2llvmy_mondo_relaxed.owl ATP hydrolysis regulator activity owl:Class MONDO:0008083 biolink:NamedThing neuronal ceroid lipofuscinosis 4B A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpak2llvmy_mondo_relaxed.owl CLN4B|neuronal ceroid lipofuscinosis, parry type|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|Kuf's disease, autosomal dominant|CLN4B disease|Kufs disease, autosomal dominant|neuronal ceroid lipofuscinosis type 4B|autosomal dominant Kufs disease|ceroid lipofuscinosis, neuronal, parry type|neuronal ceroid lipofuscinosis 4 parry type|Kuf's disease type B|autosomal dominant neuronal ceroid lipofuscinosis 4B|adult neuronal ceroid lipofuscinosis 4B UMLS:C4284284|GARD:0001222|UMLS:C1834207|DOID:0110720|ICD10:E75.4|Orphanet:228343|OMIM:162350|NCIT:C128116 owl:Class MONDO:0007427 biolink:NamedThing deafness with anhidrotic ectodermal dysplasia tmpak2llvmy_mondo_relaxed.owl deafness with anhidrotic ectodermal dysplasia UMLS:C1852279|MESH:C565119|OMIM:125050 owl:Class MONDO:0010103 biolink:NamedThing teeth, fused tmpak2llvmy_mondo_relaxed.owl teeth, fused SCTID:1744008|OMIM:273000 owl:Class MONDO:0024935 biolink:NamedThing foot rot A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) tmpak2llvmy_mondo_relaxed.owl Rots, foot|foot Rots|rot, foot UMLS:C0016513|MESH:D005535 owl:Class MONDO:0016622 biolink:NamedThing Melhem-Fahl syndrome Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. tmpak2llvmy_mondo_relaxed.owl Melhem Fahl syndrome|fifteen dorsal vertebrae and rib pairs UMLS:C2931453|GARD:0003462|Orphanet:2482|ICD10:Q76.4|SCTID:732263008|MESH:C537238 https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome owl:Class MONDO:0043361 biolink:NamedThing May-Thurner syndrome A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. tmpak2llvmy_mondo_relaxed.owl Cockett syndrome|compression syndromes, Iliocaval|syndromes, Iliocaval compression|iliac vein compression syndrome|syndrome, Iliocaval compression|Iliac vein compression syndrome|syndrome, Cockett|syndrome, May-Thurner|Iliocaval compression syndrome|Iliocaval compression syndromes|May Thurner syndrome|compression syndrome, Iliocaval|May-Thurner syndrome SCTID:448804008|MESH:D062108|GARD:0012141|UMLS:C3165062 owl:Class MONDO:0011080 biolink:NamedThing progressive deafness with stapes fixation Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). tmpak2llvmy_mondo_relaxed.owl Stapedo-vestibular ankylosis|deafness, progressive, with stapes fixation|Thies-Reis syndrome|Thies Reis syndrome GARD:0005170|OMIM:601449|Orphanet:3235|UMLS:C1832354|MESH:C563316|SCTID:715529009|ICD10:H74.3 https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation owl:Class MONDO:0033542 biolink:NamedThing immunodeficiency 70 tmpak2llvmy_mondo_relaxed.owl IMD70|IMMUNODEFICIENCY 70 OMIM:618969 owl:Class MONDO:0012242 biolink:NamedThing syncope, familial vasovagal tmpak2llvmy_mondo_relaxed.owl syncope, familial Neurocardiogenic|VVS|familial neurocardiogenic syncope|syncope, familial VASOVAGAL|familial vasovagal syncope|syncope familial neurocardiogenic UMLS:C1836438|OMIM:609289|MESH:C536849|GARD:0009502 owl:Class MONDO:0032568 biolink:NamedThing intellectual developmental disorder with macrocephaly, seizures, and speech delay tmpak2llvmy_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY|IDDMSSD OMIM:618158 owl:Class MONDO:0001202 biolink:NamedThing prostatic cyst tmpak2llvmy_mondo_relaxed.owl cyst of prostate ICD9:600.3|SCTID:409658007|ICD9:599.89|UMLS:C1443972|DOID:11133|ICD10:N42.83 owl:Class MONDO:0007623 biolink:NamedThing flushing of ears and somnolence tmpak2llvmy_mondo_relaxed.owl flushing of ears and somnolence UMLS:C1851055|OMIM:136200 owl:Class MONDO:0004146 biolink:NamedThing transitional meningioma A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. tmpak2llvmy_mondo_relaxed.owl transitional (mixed) meningioma|transitional meningioma (morphologic abnormality)|mixed meningioma DOID:7213|NCIT:C4333|ICDO:9537/0|EFO:1000602|UMLS:C0334611 owl:Class MONDO:0001632 biolink:NamedThing intracranial arteriosclerosis Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. tmpak2llvmy_mondo_relaxed.owl UMLS:C0007771|DOID:13097|MESH:D002537 owl:Class HGNC:3791 biolink:NamedThing FOLR1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008354 biolink:NamedThing purpura simplex tmpak2llvmy_mondo_relaxed.owl purpura simplex SCTID:277791008|ICD9:287.2|UMLS:C0272309|MESH:C536249|GARD:0007508|OMIM:179000 owl:Class MONDO:0016988 biolink:NamedThing hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). tmpak2llvmy_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF4A deficiency UMLS:C4274078|SCTID:717048002|ICD10:E16.1|Orphanet:263455 owl:Class MONDO:0018210 biolink:NamedThing Alexander disease type II Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. tmpak2llvmy_mondo_relaxed.owl AxD type II Orphanet:363722|ICD10:E75.2|UMLS:CN204730 owl:Class MONDO:0004039 biolink:NamedThing papillary extrahepatic bile duct adenocarcinoma tmpak2llvmy_mondo_relaxed.owl DOID:6931 owl:Class MONDO:0018249 biolink:NamedThing finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:369979|UMLS:CN204822|ICD10:Q87.2 owl:Class MONDO:0024549 biolink:NamedThing microphthalmia with coloboma 1 tmpak2llvmy_mondo_relaxed.owl microphthalmia, colobomatous, isolated 1|microphthalmia, isolated, with coloboma 1|MCOPCB1 OMIM:300345 owl:Class MONDO:0001729 biolink:NamedThing active cochlear Meniere disease tmpak2llvmy_mondo_relaxed.owl active Meniere's disease, cochlear|active cochlear Meniere's disease|active cochlear Meniere disease|cochlear active Mnire's disease DOID:13492|ICD9:386.02|UMLS:C0155497|SCTID:194349005 owl:Class MONDO:0011753 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2|EIG2 DOID:0111317|OMIM:606972 owl:Class MONDO:0033370 biolink:NamedThing developmental and epileptic encephalopathy, 61 tmpak2llvmy_mondo_relaxed.owl EIEE61|epileptic encephalopathy, early infantile, 61|DEE61 OMIM:617933|UMLS:CN244550|DOID:0080434 owl:Class MONDO:0001009 biolink:NamedThing solitary cyst of breast A single, fluid-filled cyst in the breast parenchyma. tmpak2llvmy_mondo_relaxed.owl solitary cyst of the breast|solitary cyst of breast DOID:10349|ICD10:N60.0|ICD9:610.0|SCTID:266578003|ICD10:N60.09 owl:Class MONDO:0008175 biolink:NamedThing pacman dysplasia Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. tmpak2llvmy_mondo_relaxed.owl Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome|pacman dysplasia|epiphyseal stippling with osteoclastic hyperplasia MESH:C538095|ICD10:Q77.8|OMIM:167220|UMLS:C1833676|Orphanet:1952|SCTID:722127006|GARD:0004189 https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia owl:Class MONDO:0022699 biolink:NamedThing cerebral palsy spastic hemiplegic tmpak2llvmy_mondo_relaxed.owl spastic hemiplegic cerebral palsy|spastic hemiplegia cerebral palsy GARD:0010448 https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic owl:Class MONDO:0006739 biolink:NamedThing Ehrlich tumor carcinoma A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. tmpak2llvmy_mondo_relaxed.owl Ehrlich's tumor EFO:1000913|MESH:D002286|UMLS:C0007125|DOID:5050 owl:Class MONDO:0003170 biolink:NamedThing gliofibroma An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). tmpak2llvmy_mondo_relaxed.owl gliofibroma (morphologic abnormality) NCIT:C5419|DOID:4856|ICDO:9442/1|UMLS:C1266178 owl:Class MONDO:0054698 biolink:NamedThing proteasome-associated autoinflammatory syndrome 1 tmpak2llvmy_mondo_relaxed.owl Nakajo-Nishimura syndrome|JMP syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|PRAAS1|proteasome-associated autoinflammatory syndrome 1|autoinflammation, lipodystrophy, and dermatosis syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|proteasome-associated autoinflammatory syndrome 1, digenic OMIM:256040 owl:Class MONDO:0023175 biolink:NamedThing Fontaine farriaux blanckaert syndrome tmpak2llvmy_mondo_relaxed.owl GARD:0002358 https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome owl:Class MONDO:0012358 biolink:NamedThing leprosy, susceptibility to, 1 tmpak2llvmy_mondo_relaxed.owl LPRS1|leprosy, Paucibacillary type, susceptibility to, 1|leprosy, susceptibility to, 1 OMIM:609888 owl:Class MONDO:0006694 biolink:NamedThing cerebral atherosclerosis Atherosclerosis of the cerebral vasculature. tmpak2llvmy_mondo_relaxed.owl cerebral atherosclerosis DOID:12720|NCIT:C34459|EFO:1000860|SCTID:55382008|ICD9:437.0|ICD10:I67.2|MedDRA:1008095|UMLS:C0007775 owl:Class MONDO:0015310 biolink:NamedThing syndromic optic nerve hypoplasia tmpak2llvmy_mondo_relaxed.owl Orphanet:137905|UMLS:CN226655 owl:Class MONDO:0015481 biolink:NamedThing coloboma of inferior eyelid Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. tmpak2llvmy_mondo_relaxed.owl Inferior palpebral coloboma ICD10:Q10.3|SCTID:763133008|Orphanet:155889 Editor note: TODO axioms owl:Class MONDO:0032810 biolink:NamedThing oocyte maturation defect 7 tmpak2llvmy_mondo_relaxed.owl OOMD7|OOCYTE MATURATION DEFECT 7 OMIM:618550 owl:Class MONDO:0025136 biolink:NamedThing tuberculosis, bovine An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. tmpak2llvmy_mondo_relaxed.owl bovine Tuberculoses|Tuberculoses, bovine|bovine tuberculosis UMLS:C0041307|MESH:D014380|EFO:1001441 owl:Class MONDO:0022201 biolink:NamedThing has treatment by surgery tmpak2llvmy_mondo_relaxed.owl 2022-02-01 Reason: out of scope. Term to consider: MAXO:0000004. MAXO:0000004 https://github.com/monarch-initiative/mondo-build/issues/75 owl:Class MONDO:0003545 biolink:NamedThing intradural extramedullary spinal canal neoplasm A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. tmpak2llvmy_mondo_relaxed.owl intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal tumors|intradural extramedullary tumor of spinal canal|intradural extramedullary spinal canal neoplasm|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary neoplasm of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary spinal neoplasms|intradural extramedullary spinal canal tumor|intradural extramedullary spinal canal tumors UMLS:C1334255|NCIT:C5135|DOID:5615 owl:Class MONDO:0030335 biolink:NamedThing diarrhea 12, with microvillus atrophy tmpak2llvmy_mondo_relaxed.owl microvillus inclusion disease 2|DIAR12|diarrhea 12, with microvillus atrophy OMIM:619445 owl:Class MONDO:0023660 biolink:NamedThing angioedema, hereditary, 6 tmpak2llvmy_mondo_relaxed.owl HAE6 OMIM:619363 owl:Class ENVO:01000435 biolink:NamedThing montane forest tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0019371 biolink:NamedThing narcolepsy without cataplexy Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. tmpak2llvmy_mondo_relaxed.owl SCTID:91521000119104|UMLS:C1456240|ICD10:G47.4|UMLS:CN206062|ICD10:G47.419|Orphanet:83465|EFO:0005855|ICD9:347.00 owl:Class HGNC:24872 biolink:NamedThing GNAS-AS1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0006931 biolink:NamedThing pulmonary coin lesion A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. tmpak2llvmy_mondo_relaxed.owl coin lesion of lung (context-dependent category)|coin lesion of lung (finding)|coin lesion lung|coin lesion of lung EFO:1001133|ICD10:R91.1|MESH:D003074|DOID:5364|UMLS:C0009250 owl:Class HGNC:6973 biolink:NamedThing MDM2 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010782 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 3 tmpak2llvmy_mondo_relaxed.owl myopathy, lactic acidosis, and sideroblastic anemia type 3|myopathy, lactic acidosis, and sideroblastic anemia 3|MLASA3 DOID:0111184|OMIM:500011|UMLS:C4225415 owl:Class MONDO:0010112 biolink:NamedThing thalamic degeneration, symmetric infantile tmpak2llvmy_mondo_relaxed.owl thalamic degeneration, symmetric infantile|symmetrical thalamic degeneration in infants|symmetric infantile thalamic degeneration UMLS:C2931220|GARD:0005160|OMIM:273490|Orphanet:3311|MESH:C536504 https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile owl:Class MONDO:0008984 biolink:NamedThing ciliary discoordination due to random ciliary orientation tmpak2llvmy_mondo_relaxed.owl Rutland ciliary disorientation syndrome|ciliary discoordination due to random ciliary orientation|ciliary discoordination, due to random ciliary orientation MESH:C562757|GARD:0001360|SCTID:233667003|ICD9:759.89|UMLS:C0340038|OMIM:215518 https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation owl:Class MONDO:0004858 biolink:NamedThing occlusion of gallbladder Blockage of the normal flow of the contents of the gallbladder. tmpak2llvmy_mondo_relaxed.owl obstruction of gallbladder ICD10:K82.0|UMLS:C0156214|ICD9:575.2|SCTID:197416005|DOID:9714 owl:Class MONDO:0032735 biolink:NamedThing cataract 48 tmpak2llvmy_mondo_relaxed.owl CATARACT 48|CTRCT48 OMIM:618415|DOID:0070354 owl:Class MONDO:0001049 biolink:NamedThing Dressler syndrome A pericarditis characterized by inflammation, occurring after injury, located in pericardium. tmpak2llvmy_mondo_relaxed.owl postmyocardial infarction syndrome|Dressler's syndrome|Dressler syndrome UMLS:C0152107|ICD9:411.0|DOID:10507|ICD10:I24.1|SCTID:66189004 Editor note: TODO owl:Class MONDO:0007843 biolink:NamedThing Kabuki syndrome 1 tmpak2llvmy_mondo_relaxed.owl KABUK1|Niikawa-Kuroki syndrome|KABUKI syndrome 1|Kabuki syndrome type 1|Kabuki make-Up syndrome|Kabuki syndrome|Kabuki syndrome 1 OMIM:147920|UMLS:CN030661 owl:Class MONDO:0000891 biolink:NamedThing mixed fibrolamellar hepatocellular carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. tmpak2llvmy_mondo_relaxed.owl DOID:0080182 owl:Class MONDO:0007528 biolink:NamedThing Ehlers-Danlos syndrome, autosomal dominant, type unspecified tmpak2llvmy_mondo_relaxed.owl EDS, unspecified type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified|Ehlers-Danlos syndrome, Friedman-Harrod type MESH:C562424|OMIM:130090|UMLS:C0220679 owl:Class MONDO:0004556 biolink:NamedThing carcinoma arising in nasal papillomatosis A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. tmpak2llvmy_mondo_relaxed.owl carcinoma arising in nasal papillomatosis DOID:8415|NCIT:C27389|UMLS:C1332840 owl:Class HGNC:5351 biolink:NamedThing ICOS tmpak2llvmy_mondo_relaxed.owl owl:Class NCBITaxon:6657 biolink:NamedThing Crustacea tmpak2llvmy_mondo_relaxed.owl crustaceans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032756 biolink:NamedThing long qt syndrome 8 tmpak2llvmy_mondo_relaxed.owl LONG QT SYNDROME 8|LQT8 OMIM:618447 owl:Class MONDO:0016770 biolink:NamedThing actinic lichen planus Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. tmpak2llvmy_mondo_relaxed.owl lichen planus actinus|actinic LP|lichen planus subtropicus|lichenoid melanodermatitis|lichen planus tropicus|summertime actinic lichenoid eruption Orphanet:254395|UMLS:C0406365|GARD:0012673|SCTID:200999007|ICD10:L43.8 https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus owl:Class MONDO:0011900 biolink:NamedThing porokeratosis 4, disseminated superficial actinic type tmpak2llvmy_mondo_relaxed.owl porokeratosis, disseminated superficial actinic, 2|POROK4|porokeratosis 4, disseminated superficial actinic type OMIM:607728|UMLS:C1843180 owl:Class FOODON:00001145 biolink:NamedThing microbial food product A food product derived from one or more microorganisms including bacteria, mold, and yeast. tmpak2llvmy_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0032837 biolink:NamedThing abdominal obesity-metabolic syndrome 4 tmpak2llvmy_mondo_relaxed.owl AOMS4|ABDOMINAL OBESITY-METABOLIC SYNDROME 4 OMIM:618620 owl:Class MONDO:0012713 biolink:NamedThing spondylometaphyseal dysplasia, East African type tmpak2llvmy_mondo_relaxed.owl spondylometaphyseal dysplasia East-African type|spondylometaphyseal dysplasia, East African type UMLS:C2673686|MESH:C535796|OMIM:611702|GARD:0004992 https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type owl:Class MONDO:0010068 biolink:NamedThing spondyloepimetaphyseal dysplasia, sponastrime type A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. tmpak2llvmy_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Sponastrime type|sponastrime dysplasia|spondylar and nasal alterations with striated metaphyses|spondyloepimetaphyseal dysplasia Sponastrime type|Sponastrime dysplasia|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia|spondylar and nasal alterations-striated metaphyses syndrome|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|spondyloepimetaphyseal dysplasia, sponastrime type DOID:5684|NCIT:C129031|OMIM:271510|Orphanet:93357|MESH:C535786|ICD9:756.9|ICD10:Q77.7|SCTID:389161008|GARD:0004970 https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type owl:Class MONDO:0005659 biolink:NamedThing atrophic rhinitis A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). tmpak2llvmy_mondo_relaxed.owl ozena|rhinitis sicca|Ozaena|rhinitis, atrophic|dry rhinitis UMLS:C0035459|EFO:0007159|DOID:4731|MESH:D012222|SCTID:69646003|UMLS:C0030105 owl:Class MONDO:0033926 biolink:NamedThing prepubertal anorexia nervosa tmpak2llvmy_mondo_relaxed.owl Orphanet:525738 owl:Class MONDO:0030947 biolink:NamedThing neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities tmpak2llvmy_mondo_relaxed.owl CONRIBA OMIM:619173 owl:Class MONDO:0100381 biolink:NamedThing acute myeloid leukemia, t(6;11)(q27;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.) tmpak2llvmy_mondo_relaxed.owl AML, t(6;11)(q27;q23)|AML, t(6;11)(q27;q23.3) NCIT:C132105 owl:Class MONDO:0030057 biolink:NamedThing neurodevelopmental, jaw, eye, and digital syndrome tmpak2llvmy_mondo_relaxed.owl NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME|neurodevelopmental, jaw, eye, and digital syndrome|NEDJED OMIM:618914 owl:Class MONDO:0008273 biolink:NamedThing actinic prurigo tmpak2llvmy_mondo_relaxed.owl hydroa aestivale|hereditary polymorphous light eruption of American Indians|juvenile Spring eruption of ears|polymorphic Light eruption, hereditary|Hutchinson summer prurigo|actinic prurigo|familial polymorphous light eruption of American Indians OMIM:174770|Orphanet:330061|ICD10:L56.4|SCTID:201015007|UMLS:C0406217 owl:Class HP:0040202 biolink:NamedThing Abnormal consumption behavior tmpak2llvmy_mondo_relaxed.owl Abnormal consumption behaviour UMLS:C4073150 human_phenotype owl:Class MONDO:0033557 biolink:NamedThing hemophagocytic lymphohistiocytosis, familial, 6 tmpak2llvmy_mondo_relaxed.owl HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6|FHL6 OMIM:618998 owl:Class MONDO:0000683 biolink:NamedThing topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. tmpak2llvmy_mondo_relaxed.owl DOID:0060153|SCTID:83824009 owl:Class MONDO:0044718 biolink:NamedThing alkaline ceramidase 3 deficiency tmpak2llvmy_mondo_relaxed.owl PLDECO|ACER3-related early childhood-onset progressive leukodystrophy|leukodystrophy, progressive, early childhood-onset|leukodystrophy due to alkaline ceramidase 3 deficiency UMLS:CN603947|Orphanet:502444|OMIM:617762 owl:Class MONDO:0021105 biolink:NamedThing NAFLD1 tmpak2llvmy_mondo_relaxed.owl NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|liver disease, alcoholic, susceptibility to, 1 OMIM:613282 owl:Class MONDO:0004574 biolink:NamedThing pyridoxine deficiency anemia Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. tmpak2llvmy_mondo_relaxed.owl pyridoxine Deficincy|B6 deficiencies, vitamin|deficiencies, vitamin B6|B6 vitamin deficiencies|vitamin deficiency, B6|deficiencies, B6 vitamin|pyridoxine deficiency|deficiency, pyridoxine|deficiency, B6 vitamin|deficiency, vitamin B6|vitamin B6 deficiencies|B6 vitamin deficiency|vitamin B6 deficiency syndrome|vitamin deficiencies, B6|B6 deficiency, vitamin|vitamin B6 deficiency|deficiency, vitamin B 6 ICD9:266.1|DOID:8455|ICD9:281.8|GARD:0004616|NCIT:C85221|MESH:D026681|SCTID:86448001|ICD10:E53.1 owl:Class MONDO:0002272 biolink:NamedThing polyclonal hypergammaglobulinemia A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. tmpak2llvmy_mondo_relaxed.owl polyclonal hypergammaglobulinemia SCTID:190808009|DOID:2344|ICD10:D89.0|ICD9:273.0|UMLS:C0154254|NCIT:C35885 Editor note: check HP:0003459 Polyclonal elevation of IgM owl:Class MONDO:0015785 biolink:NamedThing Prader-Willi syndrome due to translocation tmpak2llvmy_mondo_relaxed.owl Orphanet:177907|UMLS:CN200367|ICD10:Q87.1 owl:Class MONDO:0012177 biolink:NamedThing posterior column ataxia-retinitis pigmentosa syndrome Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. tmpak2llvmy_mondo_relaxed.owl PCARP|autosomal recessive posterior column ataxia and retinitis pigmentosa|AXPC1|Pcarp|POSTERIOR column ataxia with retinitis pigmentosa UMLS:C4510304|OMIM:609033|UMLS:C1836916|Orphanet:88628|ICD10:G11.1|SCTID:724065003|MESH:C536343|GARD:0009898 owl:Class MONDO:0017622 biolink:NamedThing congenital sucrase-isomaltase deficiency without sucrose intolerance tmpak2llvmy_mondo_relaxed.owl congenital sucrose-isomaltose malabsorption without sucrose intolerance|CSID without sucrose intolerance|disaccharide intolerance without sucrose intolerance Orphanet:306486|ICD10:E74.3 owl:Class MONDO:0004008 biolink:NamedThing flat ductal epithelial atypia A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. tmpak2llvmy_mondo_relaxed.owl flat epithelial atypia|flat ductal epithelial atypia of the breast|FEA|ductal intraepithelial neoplasia, grade 1A|DIN 1A|flat ductal epithelial atypia|flat epithelial atypia of the breast|clinging carcinoma NCIT:C36086|DOID:6841|UMLS:C1333620 owl:Class MONDO:0005190 biolink:NamedThing macroglobulinemia Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. tmpak2llvmy_mondo_relaxed.owl primary macroglobulinemia SCTID:190817009|Wikipedia:Macroglobulinemia|DOID:9080|ICD9:273.3|EFO:0002616|ICD10:C88.0 owl:Class MONDO:0007815 biolink:NamedThing immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist tmpak2llvmy_mondo_relaxed.owl immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist 2021-01-01 OMIM:146840|UMLS:C1840265|MESH:C564135 Reason: duplicate. This will be merged with MONDO:0007818 Hyper-IgE recurrent infection syndrome 1 owl:Class MONDO:0012129 biolink:NamedThing leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema tmpak2llvmy_mondo_relaxed.owl leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema|LACH UMLS:C1837329|MESH:C563852|GARD:0010065|OMIM:608809 https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema owl:Class MONDO:0007847 biolink:NamedThing keloid formation tmpak2llvmy_mondo_relaxed.owl keloid formation OMIM:148100 owl:Class MONDO:0009631 biolink:NamedThing isolated microphthalmia 1 A microphthalmia that has material basis in variation in the chromosomal region 14q32. tmpak2llvmy_mondo_relaxed.owl isolated microphthalmia type 1|microphthalmia, isolated 1|MCOP1|anophthalmia, clinical, isolated|microphthalmos, autosomal recessive|Mcop DOID:0060840|UMLS:C1855052|ICD10:Q11.0|OMIM:251600|MESH:C565377 owl:Class MONDO:0030936 biolink:NamedThing epilepsy, progressive myoclonic, 12 tmpak2llvmy_mondo_relaxed.owl epilepsy, progressive myoclonic, 12|EPM12 OMIM:619191 owl:Class MONDO:0032882 biolink:NamedThing Heyn-Sproul-Jackson syndrome tmpak2llvmy_mondo_relaxed.owl HEYN-SPROUL-JACKSON SYNDROME|HESJAS|Microcephaly, Short Stature, and Impaired Intellectual Development OMIM:618724 owl:Class MONDO:0008184 biolink:NamedThing pancreas, dorsal, agenesis of tmpak2llvmy_mondo_relaxed.owl congenital short pancreas|partial agenesis of the dorsal pancreas|pancreas agenesis, dorsal|pancreas, dorsal, agenesis of|complete agenesis of the dorsal pancreas|agenesis of the dorsal pancreas UMLS:C1868659|MESH:C538109|GARD:0004203|OMIM:167755 owl:Class MONDO:0018811 biolink:NamedThing congenital portosystemic shunt Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. tmpak2llvmy_mondo_relaxed.owl congenital portosystemic venous fistula Orphanet:480531 owl:Class MONDO:0011682 biolink:NamedThing episodic ataxia type 3 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. tmpak2llvmy_mondo_relaxed.owl ataxia, episodic, with vertigo and tinnitus|episodic ataxia-vertigo-tinnitus-myokymia syndrome|EA3|episodic ataxia, type 3 Orphanet:79135|DOID:0050991|SCTID:718755009|UMLS:C1847839|ICD10:G11.8|OMIM:606554|MESH:C564697 owl:Class MONDO:0017586 biolink:NamedThing onychocytic matricoma Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision. tmpak2llvmy_mondo_relaxed.owl acanthoma of the nail matrix GARD:0011007|Orphanet:300504|UMLS:CN203392 https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma owl:Class MONDO:0020571 biolink:NamedThing relapsing epidemic typhus tmpak2llvmy_mondo_relaxed.owl ICD10:A75.0|UMLS:CN207497|Orphanet:99991 owl:Class NCBITaxon:4564 biolink:NamedThing Triticum tmpak2llvmy_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006302 biolink:NamedThing micropapillary serous carcinoma An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio. tmpak2llvmy_mondo_relaxed.owl NCIT:C6882|EFO:1000377 owl:Class MONDO:0020749 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 tmpak2llvmy_mondo_relaxed.owl polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 owl:Class MONDO:0000460 biolink:NamedThing neural glioblastoma A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. tmpak2llvmy_mondo_relaxed.owl glioblastoma neural subtype|neural glioblastoma NCIT:C111693|DOID:0050806|UMLS:C3828832 owl:Class MONDO:0010106 biolink:NamedThing testes, rudimentary tmpak2llvmy_mondo_relaxed.owl testes, rudimentary OMIM:273150 owl:Class MONDO:0025356 biolink:NamedThing azoospermia, obstructive, with nephrolithiasis tmpak2llvmy_mondo_relaxed.owl OAZON OMIM:301060 owl:Class MONDO:0004127 biolink:NamedThing lung occult adenocarcinoma A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpak2llvmy_mondo_relaxed.owl occult lung adenocarcinoma|occult adenocarcinoma of lung|occult adenocarcinoma of the lung DOID:7168|UMLS:C1335096|NCIT:C6699 owl:Class CL:0002454 biolink:NamedThing Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. tmpak2llvmy_mondo_relaxed.owl DC.8-4-11b+|spleen double-negative dendritic cell tmeehan 2010-11-22T01:10:28Z cell owl:Class MONDO:0001750 biolink:NamedThing non-renal secondary hyperparathyroidism tmpak2llvmy_mondo_relaxed.owl ICD9:252.02|DOID:13575 owl:Class MONDO:0000690 biolink:NamedThing body dysmorphic disorder Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. tmpak2llvmy_mondo_relaxed.owl body dysmorphia|dysmorphic syndrome|dysmorphophobia MESH:D057215|DOID:0060163|ICD10:F45.22|SCTID:83482000 owl:Class MONDO:0001728 biolink:NamedThing active vestibular Meniere disease tmpak2llvmy_mondo_relaxed.owl active Meniere's disease, vestibular|vestibular active Mnire's disease|active vestibular Meniere's disease|active vestibular Meniere disease SCTID:194350005|ICD9:386.03|UMLS:C0155498|DOID:13491 owl:Class MONDO:0016302 biolink:NamedThing isolated congenitally uncorrected transposition of the great arteries tmpak2llvmy_mondo_relaxed.owl isolated congenitally uncorrected transposition of the great vessels Orphanet:216718|ICD10:Q20.3 owl:Class MONDO:0005418 biolink:NamedThing non-compaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. tmpak2llvmy_mondo_relaxed.owl EFO:0004686 owl:Class MONDO:0001830 biolink:NamedThing somatization disorder Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V) tmpak2llvmy_mondo_relaxed.owl Briquet's disorder|Somatisation disorder|Polysomatising disorder ICD10:F45.0|SCTID:397923000|ICD9:300.81|DOID:13918 owl:Class MONDO:0013257 biolink:NamedThing leprosy, susceptibility to, 6 tmpak2llvmy_mondo_relaxed.owl LPRS6|leprosy, susceptibility to, 6 OMIM:613407 owl:Class HGNC:2638 biolink:NamedThing CYP3A5 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0010608 biolink:NamedThing Hhhh syndrome tmpak2llvmy_mondo_relaxed.owl hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome|Hhhh syndrome UMLS:C1844019|OMIM:306960|MESH:C564411 owl:Class MONDO:0010423 biolink:NamedThing hypospadias 2, X-linked tmpak2llvmy_mondo_relaxed.owl HYSP2|hypospadias 2, X-linked OMIM:300758|MESH:C567462|UMLS:C2677879 owl:Class MONDO:0006992 biolink:NamedThing syphilitic aortitis Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. tmpak2llvmy_mondo_relaxed.owl EFO:1001206|SCTID:20735004|ICD9:093.1|MedDRA:10042900|ICD10:A52.02|UMLS:C0003511 owl:Class HGNC:6663 biolink:NamedThing LORICRIN tmpak2llvmy_mondo_relaxed.owl owl:Class UBERON:0014610 biolink:NamedThing thoracic spinal cord ventral horn A ventral horn of spinal cord that is part of a thoracic spinal cord. tmpak2llvmy_mondo_relaxed.owl thoracic spinal cord ventral horn|thoracic spinal cord anterior horn owl:Class MONDO:0015787 biolink:NamedThing symptomatic form of hemophilia A in female carriers A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. tmpak2llvmy_mondo_relaxed.owl ICD10:D66|Orphanet:177926|UMLS:CN200369 owl:Class MONDO:0019887 biolink:NamedThing distal trisomy 16q Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. tmpak2llvmy_mondo_relaxed.owl trisomy 16qter|distal duplication 16q|telomeric duplication 16q|distal trisomy type 16q ICD10:Q92.3|SCTID:764459008|Orphanet:96106 owl:Class MONDO:0008580 biolink:NamedThing toes, space between first and second tmpak2llvmy_mondo_relaxed.owl toes, space between first and second OMIM:189230 owl:Class HGNC:251 biolink:NamedThing ADH1C tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0011628 biolink:NamedThing propionic acidemia Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. tmpak2llvmy_mondo_relaxed.owl Glycinemia, ketotic|propionyl-Coa carboxylase deficiency|prop|GLYCINEMIA, ketotic|ketotic II glycinemia|hyperglycinemia with ketoacidosis and leukopenia|ketotic hyperglycinemia|propionic aciduria|PCC deficiency|propionic acidemia|propionyl-CoA carboxylase deficiency|Propionicacidemia|ketotic glycinemia MESH:D056693|ICD10:E71.121|DOID:14701|Orphanet:35|GARD:0000467|ICD10:E71.1|OMIM:606054|NCIT:C85030|UMLS:C0268579|SCTID:69080001 https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia owl:Class MONDO:0022824 biolink:NamedThing congenital craniosynostosis maternal hyperthyroiditis tmpak2llvmy_mondo_relaxed.owl GARD:0001478 https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis owl:Class MONDO:0015099 biolink:NamedThing unilateral hemispheric polymicrogyria tmpak2llvmy_mondo_relaxed.owl Orphanet:101071|ICD10:Q04.3 owl:Class MONDO:0012797 biolink:NamedThing otosclerosis 8 tmpak2llvmy_mondo_relaxed.owl otosclerosis 8|OTSC8 MESH:C567421|UMLS:C2677515|OMIM:612096 owl:Class MONDO:0006892 biolink:NamedThing partial sensory epilepsy A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial). tmpak2llvmy_mondo_relaxed.owl DOID:3330|EFO:1001090|MESH:D020937 owl:Class HGNC:25088 biolink:NamedThing SGO1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0100439 biolink:NamedThing glycogen storage disease IXa2 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. tmpak2llvmy_mondo_relaxed.owl GSD9A2|GSD IXa2|liver glycogenosis, X-linked, type 2 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2128 owl:Class MONDO:0013856 biolink:NamedThing hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes tmpak2llvmy_mondo_relaxed.owl hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes OMIM:614684|UMLS:C3553465 owl:Class UBERON:0004500 biolink:NamedThing skeletal muscle tissue of deltoid A portion of skeletal muscle tissue that is part of a deltoid [Automatically generated definition]. tmpak2llvmy_mondo_relaxed.owl skeletal muscle tissue of deltoid muscle owl:Class MONDO:0022622 biolink:NamedThing CDG syndrome type 4 tmpak2llvmy_mondo_relaxed.owl GARD:0001174 https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4 owl:Class MONDO:0004633 biolink:NamedThing Hodgkin's lymphoma, mixed cellularity A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) tmpak2llvmy_mondo_relaxed.owl MCCHL|mixed cellularity classical Hodgkin lymphoma|mixed cellularity Hodgkin lymphoma|Hodgkin's lymphoma mixed cellularity|Hodgkin lymphoma, mixed cellularity|MCHL|Hodgkin's disease, mixed cellularity of unspecified site|mixed cellularity Hodgkin's lymphoma|mixed cellularity Hodgkin's disease|Mixed cellularity Classic Hodgkin lymphoma|Hodgkin's disease, mixed cellularity|classic Hodgkin lymphoma, mixed cellularity type|Hodgkin's disease mixed cellularity ICD10:C81.2|ICDO:9652/3|Orphanet:98844|SCTID:118609008|ONCOTREE:MCCHL|DOID:8654|NCIT:C3517|ICD9:201.6 owl:Class MONDO:0006196 biolink:NamedThing endometrial serous adenocarcinoma A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. tmpak2llvmy_mondo_relaxed.owl endometrial serous adenocarcinoma|uterine serous adenocarcinoma|serous endometrial adenocarcinoma|uterine papillary serous carcinoma|uterine serous papillary adenocarcinoma|uterine corpus serous adenocarcinoma|uterine serous carcinoma NCIT:C27838|EFO:1000238 owl:Class MONDO:0054847 biolink:NamedThing epilepsy, familial adult myoclonic, 7 tmpak2llvmy_mondo_relaxed.owl epilepsy, FAMILIAL ADULT myoclonic, 7|FAME7|cortical myoclonic tremor with epilepsy, Familial, 7|benign Adult Familial myoclonic epilepsy 7 UMLS:CN252654|OMIM:618075|DOID:0111694 owl:Class MONDO:0009382 biolink:NamedThing hyperbilirubinemia, shunt, primary tmpak2llvmy_mondo_relaxed.owl PSHB|hyperbilirubinemia, shunt, primary OMIM:237800 owl:Class MONDO:0008208 biolink:NamedThing patella, familial recurrent dislocation of tmpak2llvmy_mondo_relaxed.owl patella, familial recurrent dislocation of UMLS:C1868575|OMIM:169000|MESH:C566816 owl:Class MONDO:0015272 biolink:NamedThing camptodactyly-taurinuria syndrome Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. tmpak2llvmy_mondo_relaxed.owl familial streblodactyly with amino-aciduria|camptodactyly with taurinuria|camptodactyly taurinuria MESH:C537972|SCTID:733466005|GARD:0001069|ICD10:Q68.1|Orphanet:1325|UMLS:C2931681 owl:Class MONDO:0020474 biolink:NamedThing cheirospondyloenchondromatosis Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. tmpak2llvmy_mondo_relaxed.owl generalized enchondromatosis with platyspondyly SCTID:725104005|Orphanet:99647|UMLS:C4510810 owl:Class MONDO:0033644 biolink:NamedThing microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 tmpak2llvmy_mondo_relaxed.owl MRCS1 OMIM:619082 owl:Class FOODON:03400129 biolink:NamedThing refined or partially-refined food product (us cfr) Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995] tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0129 http://langual.org owl:Class MONDO:0010721 biolink:NamedThing reticuloendotheliosis, X-linked tmpak2llvmy_mondo_relaxed.owl reticuloendotheliosis, X-linked|reticuloendotheliosis OMIM:312500|MESH:C538362|GARD:0007559|UMLS:C0035288 owl:Class MONDO:0004134 biolink:NamedThing benign dermal neurilemmoma tmpak2llvmy_mondo_relaxed.owl benign neurilemmoma of skin|benign schwannoma of skin|benign dermal schwannoma|benign schwannoma of the skin|benign neurilemmoma of the skin|benign skin schwannoma|benign skin neurilemmoma DOID:7181|NCIT:C5569|UMLS:C1332490 owl:Class N4eb1f5c9d1d641dfa4f47e4fcf618f69 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N9f27e1fda62f4f40ad745fb799fbfbab biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nf73f8b62f9354d1fbcc89ff00da5dbf2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N6f3c13052f5743f4bdb29dd5425aeb67 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N6207167a6833486b978a3b33a6ea5d31 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N9bd5d997fd854eb78e9e4277525a8062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Naddf99548cd14aa09be06ceb605bbf54 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nc418e37fa29446b0968a9b1faa17c033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ndc49c816061b40708b811faca6b1e720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N72f15f2bfa044eb39f7734a6fdd0d05c biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N46a8e7ec2e0c4e49b0f356de28b1d653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ndeb409e0fa6c4a89a821fc1ddf405cc8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N7df8c5556b50451fb9998c2c313b5189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nd621afd7c2504fe1a58d5d394f29ea3b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:56212 biolink:NamedThing Calomys musculinus tmpak2llvmy_mondo_relaxed.owl drylands vesper mouse GC_ID:1 ncbi_taxonomy owl:Class N61a46e9cd02140dfab6a2d0a9ece3922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N0755450140b24cca904b5903fd81761b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ndc0e32abccb245d0a59181b1c07bbc03 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nfa60ecf527564c58b1eefbd0488df8ba biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N8f4011b3e80f462a9d6e8ee239199012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N4491f4054f5c4e3ebb7f1b756177caff biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N5ed04627b0b74219abf59382ec7e12c5 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N935f00a67b41470cac78f33431399f7f biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N4b32c68741b048cb86b190bcc13456b7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0035636 biolink:NamedThing obsolete multi-organism signaling OBSOLETE. The transfer of information between living organisms. tmpak2llvmy_mondo_relaxed.owl pheromone signaling|signaling with other organism|multi-organism signalling|signaling between organisms True owl:Class N6c637785ea3343908eea8fe95174d7ec biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ne253fac1857145e88e031c942942eeb3 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nd19bf3c030dc4ccd937c734c8f4c4b47 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Ne241931c646347dd860bf0fd7e6d9868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N020e6de030ab46bc8cb30f697c6987cf biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nfb5a5e96af2a440ebded36f02a0461e8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N092a785c610a494caf9116dd694a6997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nf7a7c44c2ea7410b84fb80117133c96a biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:12461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class N86d53cae23434c71ba4ef7e5f40bbcd1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nbd861b5eeb904eae97e192babf197256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N314d56ccc4864727b0134ea4a917a2ab biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N1eaed85c74a745cf905aacfc0db78f5d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N16af01f02c3a4794afbe8ec4f4c3bf80 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009111 biolink:NamedThing dihydropyrimidinuria Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. tmpak2llvmy_mondo_relaxed.owl dihydropyrimidinase deficiency|dihydropyrimidinuria|Dph deficiency|Dpys deficiency|DPYSD DOID:0111629|GARD:0012347|Orphanet:38874|OMIM:222748|SCTID:238014002|ICD10:E79.8|ICD9:277.2 owl:Class Ne403372ed4a341cf924039f25f0eefcd biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nd8063c935f2846c495f78623e0c7cbfe biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nb60ad42c462c402eabd5ea073e9e2591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N4c80a7bae20e4533ac53dfd136eea2ff biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N9e0aad78ee9243c7bf71730351b52fb8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Nec8ec52b21274c238ec6fcc23291bde1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N9b338e184ea24e7e8b176cac6fcc1e3b biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019504 biolink:NamedThing superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. tmpak2llvmy_mondo_relaxed.owl Theodore's syndrome|Theodore's superior limbic keratoconjunctivitis|SLK|Theodores syndrome|Theodores superior limbic keratoconjunctivitis UMLS:C0339229|ICD9:370.49|ICD10:H16.2|GARD:0010940|Orphanet:88633|SCTID:231903005 https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis owl:Class HGNC:7978 biolink:NamedThing NR3C1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0017106 biolink:NamedThing retrocerebellar cyst tmpak2llvmy_mondo_relaxed.owl retrocerebellar cyst (disease)|Retrocerebellar arachnoid cyst|Retrocerebellar cyst retrocerebellar cyst (disease) Orphanet:269200|HP:0006951 owl:Class MONDO:0017618 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch intolerance tmpak2llvmy_mondo_relaxed.owl congenital sucrase-isomaltose malabsorption with starch intolerance|CSID with starch intolerance|congenital sucrose intolerance with starch intolerance|disaccharide intolerance with starch intolerance ICD10:E74.3|Orphanet:306436 owl:Class MONDO:0022580 biolink:NamedThing blepharo naso facial syndrome van Maldergem type A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. tmpak2llvmy_mondo_relaxed.owl GARD:0000902 https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type owl:Class MONDO:0019678 biolink:NamedThing brachydactyly type A5 Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb. tmpak2llvmy_mondo_relaxed.owl brachydactyly with absence of middle phalanges and hypoplastic nails|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia SCTID:720570007|Orphanet:93389|MESH:C537091|UMLS:C1862138|ICD10:Q73.8|GARD:0000982 https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 owl:Class MONDO:0015096 biolink:NamedThing familial hypofibrinogenemia Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. tmpak2llvmy_mondo_relaxed.owl hypofibrinogenemia, familial ICD10:D68.2|Orphanet:101041|UMLS:CN197419|GARD:0002887 https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial owl:Class MONDO:0034041 biolink:NamedThing congenital axonal neuropathy with encephalopathy A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. tmpak2llvmy_mondo_relaxed.owl Orphanet:538101 owl:Class MONDO:0006851 biolink:NamedThing meconium aspiration syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. tmpak2llvmy_mondo_relaxed.owl syndrome, meconium aspiration|aspiration, meconium|meconium aspiration syndrome|neonatal aspiration of meconium|aspiration syndrome, meconium|meconium aspiration|MAS|meconium inhalation EFO:1001037|Orphanet:70588|UMLS:C0025048|DOID:11049|ICD10:P24.0|ICD9:770.1|ICD10:P24.01|MESH:D008471|SCTID:206292002|ICD10:P24.00|GARD:0010494|MedDRA:10027057|NCIT:C87093 Editor note: ORDO says this is rare, yet NCIT says 5-10% of births owl:Class MONDO:0022321 biolink:NamedThing 2-methylacetoacetyl CoA thiolase deficiency tmpak2llvmy_mondo_relaxed.owl UMLS:C2930874|MESH:C535307|GARD:0008382 Editor note: todo split https://en.wikipedia.org/wiki/2-methylacetoacetyl-CoA_thiolase https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency owl:Class MONDO:0030019 biolink:NamedThing anauxetic dysplasia 3 tmpak2llvmy_mondo_relaxed.owl ANXD3|ANAUXETIC DYSPLASIA 3|anauxetic dysplasia 3 OMIM:618853 owl:Class MONDO:0030035 biolink:NamedThing leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome tmpak2llvmy_mondo_relaxed.owl LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME|LEUDEN|Leuden Syndrome|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome OMIM:618877 owl:Class MONDO:0012567 biolink:NamedThing autism, susceptibility to, 12 tmpak2llvmy_mondo_relaxed.owl AUTS12|autism, susceptibility to, 12 OMIM:610838 owl:Class MONDO:0008355 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 1 tmpak2llvmy_mondo_relaxed.owl IHPS1|pyloric stenosis, infantile hypertrophic, 1|pyloric stenosis, infantile hypertrophic|pyloric stenosis, infantile OMIM:179010|UMLS:C1867403 owl:Class MONDO:0012397 biolink:NamedThing brachydactyly, coloboma, and anterior segment dysgenesis tmpak2llvmy_mondo_relaxed.owl brachydactyly, coloboma, and anterior segment dysgenesis OMIM:610023|UMLS:C1864901|MESH:C566484 owl:Class MONDO:0006237 biolink:NamedThing granulocytic sarcoma A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl granulocytic sarcoma|sarcoma, granulocytic, malignant NCIT:C35815|EFO:1000286 owl:Class MONDO:0022786 biolink:NamedThing cleft palate colobomata radial synostosis deafness tmpak2llvmy_mondo_relaxed.owl GARD:0001388 https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness owl:Class MONDO:0008920 biolink:NamedThing carnitine deficiency, myopathic tmpak2llvmy_mondo_relaxed.owl myopathic carnitine deficiency|carnitine deficiency, myopathic GARD:0006616|OMIM:212160|UMLS:C1859318|MESH:C536100 https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency owl:Class MONDO:0001094 biolink:NamedThing residual stage of open angle glaucoma tmpak2llvmy_mondo_relaxed.owl open-angle glaucoma residual stage|residual stage of open angle glaucoma UMLS:C0154944|DOID:1066|ICD10:H40.15|ICD9:365.15|SCTID:66990007 owl:Class MONDO:0005771 biolink:NamedThing geographic tongue A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. tmpak2llvmy_mondo_relaxed.owl Pityriasis linguae|glossitis areata exfoliativa|benign migratory glossitis NCIT:C84588|SCTID:59032001|ICD9:529.1|EFO:0007283|DOID:1455|UMLS:C0017677|ICD10:K14.1 owl:Class MONDO:0033200 biolink:NamedThing deafness, autosomal recessive 108 tmpak2llvmy_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 108|DFNB108|deafness, autosomal recessive 108 OMIM:617654|DOID:0080263 owl:Class IAO:8000015 biolink:NamedThing template generated ontology module An ontology module that is automatically generated from a template specification and fillers for slots in that template. tmpak2llvmy_mondo_relaxed.owl template generated ontology module owl:Class MONDO:0015086 biolink:NamedThing cloverleaf skull-asphyxiating thoracic dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl Benallegue-Lacete syndrome|Benallegue Lacete syndrome|cloverleaf skull and asphyxiating thoracic dysplasia UMLS:CN197384|ICD10:Q87.5|GARD:0000853|Orphanet:100978 https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome owl:Class MONDO:0019656 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpak2llvmy_mondo_relaxed.owl UMLS:CN206529|ICD10:N04.8|Orphanet:93220 owl:Class MONDO:0006844 biolink:NamedThing magnesium deficiency A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) tmpak2llvmy_mondo_relaxed.owl ICD10:E61.2|MESH:D008275|UMLS:C0024473|MedDRA:10025433|EFO:1001029|SCTID:238118002 owl:Class MONDO:0020442 biolink:NamedThing left superior vena cava persisting to left-sided atrium tmpak2llvmy_mondo_relaxed.owl left SVC persisting to left-sided atrium|left superior caval vein persisting to left-sided atrium Orphanet:99111|ICD10:Q26.1|ICD9:747.49|SCTID:445436005 owl:Class HGNC:5010 biolink:NamedThing HMGA1 tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0015403 biolink:NamedThing non-involuting congenital hemangioma Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). tmpak2llvmy_mondo_relaxed.owl NICH|noninvoluting congenital hemangioma ICD10:D18.0|GARD:0010890|Orphanet:141179|UMLS:C1275417|SCTID:703295003 https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma owl:Class MONDO:0023142 biolink:NamedThing fetal brain disruption sequence tmpak2llvmy_mondo_relaxed.owl GARD:0002297 https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence owl:Class MONDO:0006184 biolink:NamedThing ductal breast carcinoma in situ and lobular carcinoma in situ The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion. tmpak2llvmy_mondo_relaxed.owl DCIS and LCIS of the breast|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|intraductal and lobular carcinoma in situ of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|non-invasive ductal and non-invasive lobular breast carcinoma|DCIS and LCIS of breast|non-invasive ductal and non-invasive lobular carcinoma|ductal carcinoma in situ with lobular carcinoma in situ of the breast|intraductal and lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ|intraductal carcinoma and lobular carcinoma in situ|ductal and lobular carcinoma in situ of breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|non-invasive ductal with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|ductal and lobular carcinoma in situ of the breast|ductal and lobular breast carcinoma in situ|non-infiltrating ductal with non-infiltrating lobular carcinoma of breast UMLS:C0334383|ICDO:8522/2|EFO:1000221|NCIT:C4195 owl:Class MONDO:0010876 biolink:NamedThing recessive aplasia cutis congenita of limbs Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980. tmpak2llvmy_mondo_relaxed.owl recessive aplasia cutis congenita of the limbs|aplasia cutis congenita of limbs, autosomal recessive|congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs recessive MESH:C536840|OMIM:600360|ICD10:Q84.8|Orphanet:1115|UMLS:C1838206|GARD:0000754|SCTID:723500009 https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive owl:Class HGNC:10802 biolink:NamedThing SFTPC tmpak2llvmy_mondo_relaxed.owl owl:Class MONDO:0008230 biolink:NamedThing peroxidase, salivary tmpak2llvmy_mondo_relaxed.owl SAPX|peroxidase, salivary OMIM:170990 owl:Class MONDO:0100427 biolink:NamedThing non-iatrogenic A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient. tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013295 biolink:NamedThing atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. tmpak2llvmy_mondo_relaxed.owl ATOD9|dermatitis, ATOPIC, 9|atopic dermatitis type 9 UMLS:C3150764|OMIM:613519|DOID:0110105 owl:Class RO:0004030 biolink:NamedThing disease arises from structure A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure.|A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. tmpak2llvmy_mondo_relaxed.owl RO:0004030|RO:0004030 disease_arises_from_structure|disease_arises_from_structure owl:ObjectProperty RO:0004019 biolink:NamedThing disease has basis in tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002495 biolink:NamedThing immediate transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t|x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t tmpak2llvmy_mondo_relaxed.owl immediately transforms from|direct_transformation_of owl:ObjectProperty RO:0002207 biolink:NamedThing directly develops from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.|Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002494 biolink:NamedThing transformation of x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships|x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships tmpak2llvmy_mondo_relaxed.owl transforms from owl:TransitiveProperty BSPO:0001108 biolink:NamedThing distalmost part of X distalmost part of Y <=> X is in distal side of Y and X is adjacent to the distal boundary of Y|X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y|X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y|X distalmost part of Y <=> X is in distal side of Y and X is adjacent to the distal boundary of Y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000125 biolink:NamedThing in distal side of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion.|x in distal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the distal portion.|x in distal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the distal portion.|X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004000 biolink:NamedThing condition has genetic basis in tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004010 biolink:NamedThing is genetic basis for condition tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002410 biolink:NamedThing causally related to This relation groups causal relations between material entities and causal relations between processes|This relation groups causal relations between material entities and causal relations between processes tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0015014 biolink:NamedThing immediately superficial to x immediately superficial to y iff x superficial to y and x is contiguous with y.|x immediately superficial to y iff x superficial to y and x is contiguous with y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002220 biolink:NamedThing adjacent to x adjacent to y if and only if x and y share a boundary.|x adjacent_to y iff: x and y share a boundary|x adjacent to y if and only if x and y share a boundary.|x adjacent_to y iff: x and y share a boundary tmpak2llvmy_mondo_relaxed.owl owl:FunctionalProperty BSPO:0000108 biolink:NamedThing superficial_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer.|Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBI:0000833 biolink:NamedThing objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002352 biolink:NamedThing input of inverse of has input|inverse of has input tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000056 biolink:NamedThing participates_in a relation between a continuant and a process, in which the continuant is somehow involved in the process|a relation between a continuant and a process, in which the continuant is somehow involved in the process tmpak2llvmy_mondo_relaxed.owl participates_in|participates_in participates in|participates in this input material (or this output material) participates in this process|this investigator participates in this investigation|this blood clot participates in this blood coagulation|this input material (or this output material) participates in this process|this investigator participates in this investigation|this blood clot participates in this blood coagulation owl:ObjectProperty RO:0002328 biolink:NamedThing functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.|A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000122 biolink:NamedThing in_posterior_side_of X posterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the posterior portion.|X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion.|X posterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the posterior portion.|X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BFO:0000050 biolink:NamedThing part of a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole tmpak2llvmy_mondo_relaxed.owl part_of|part_of Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'. is part of|is part of my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|my brain is part of my body (continuant parthood, two material entities)|this day is part of this year (occurrent parthood)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|this day is part of this year (occurrent parthood)|my brain is part of my body (continuant parthood, two material entities) http://www.obofoundry.org/ro/#OBO_REL:part_of|http://www.obofoundry.org/ro/#OBO_REL:part_of owl:TransitiveProperty RO:0002450 biolink:NamedThing directly positively regulates activity of The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. tmpak2llvmy_mondo_relaxed.owl molecularly increases activity of owl:ObjectProperty RO:0002448 biolink:NamedThing directly regulates activity of The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B.|The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B. tmpak2llvmy_mondo_relaxed.owl molecularly controls owl:ObjectProperty RO:0002258 biolink:NamedThing developmentally preceded by Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p|Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002324 biolink:NamedThing developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502)|A relationship that holds between entities participating in some developmental process (GO:0032502) tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002286 biolink:NamedThing developmentally succeeded by Inverse of developmentally preceded by|Inverse of developmentally preceded by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BFO:0000054 biolink:NamedThing realized in tmpak2llvmy_mondo_relaxed.owl BFO:0000054|BFO:0000054 realized_in|realized_in owl:ObjectProperty BFO:0000055 biolink:NamedThing realizes tmpak2llvmy_mondo_relaxed.owl BFO_0000055|BFO_0000055 BFO_0000055s|BFO_0000055s BFO_0000055ed|BFO_0000055ed owl:ObjectProperty RO:0002329 biolink:NamedThing part of structure that is capable of this relation holds between c and p when c is part of some c', and c' is capable of p.|this relation holds between c and p when c is part of some c', and c' is capable of p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002093 biolink:NamedThing ends during tmpak2llvmy_mondo_relaxed.owl overlaps|o|o|overlaps X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). |X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002222 biolink:NamedThing temporally related to tmpak2llvmy_mondo_relaxed.owl A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations.|A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations. owl:ObjectProperty UBERON_CORE:anteriorly_connected_to biolink:NamedThing anteriorly connected to x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y.|x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002170 biolink:NamedThing connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship.|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b|Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000099 biolink:NamedThing posterior_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.|x posterior to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail.|x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.|x posterior to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail. tmpak2llvmy_mondo_relaxed.owl caudal_to owl:ObjectProperty UBERON_CORE:transitively_anteriorly_connected_to biolink:NamedThing transitively anteriorly connected to .|. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0002427 biolink:NamedThing causally downstream of or within inverse of causally upstream of or within|inverse of causally upstream of or within tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002501 biolink:NamedThing causal relation between processes p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.|p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002608 biolink:NamedThing process has causal agent Inverse of 'causal agent in process'|Inverse of 'causal agent in process' tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty https://en.wikipedia.org/wiki/Allen%27s_interval_algebra biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000125 biolink:NamedThing pending final vetting All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor. tmpak2llvmy_mondo_relaxed.owl pending final vetting IAO:0000078 BSPO:0015101 biolink:NamedThing in dorsal side of X dorsal side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the dorsal portion.|X dorsal side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the dorsal portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002500 biolink:NamedThing causal agent in process A relationship between a material entity and a process where the material entity has some causal role that influences the process|A relationship between a material entity and a process where the material entity has some causal role that influences the process tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002595 biolink:NamedThing causal relation between material entity and a process A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.|A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002433 biolink:NamedThing contributes to morphology of p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.|p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002131 biolink:NamedThing overlaps x overlaps y if and only if there exists some z such that x has part z and z part of y|x overlaps y iff they have some part in common.|A overlaps B if they share some part in common.|x overlaps y iff they have some part in common.|x overlaps y if and only if there exists some z such that x has part z and z part of y|A overlaps B if they share some part in common. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002100 biolink:NamedThing has soma location Relation between a neuron and an anatomical structure that its soma is part of.|Relation between a neuron and an anatomical structure that its soma is part of. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002018 biolink:NamedThing has component process w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002180 biolink:NamedThing has_component w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002022 biolink:NamedThing directly regulated by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002334 biolink:NamedThing regulated by inverse of regulates|inverse of regulates tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002578 biolink:NamedThing directly regulates Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2.|Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002203 biolink:NamedThing develops_into inverse of develops from|inverse of develops from tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0002387 biolink:NamedThing has potential to develop into x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002388 biolink:NamedThing has potential to directly develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002429 biolink:NamedThing involved in positive regulation of c involved in regulation of p if c is involved in some p' and p' positively regulates some p|c involved in regulation of p if c is involved in some p' and p' positively regulates some p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002428 biolink:NamedThing involved in regulation of c involved in regulation of p if c is involved in some p' and p' regulates some p|c involved in regulation of p if c is involved in some p' and p' regulates some p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002156 biolink:NamedThing derived by descent from d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.|d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002157 biolink:NamedThing has derived by descendant inverse of derived by descent from|inverse of derived by descent from tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002320 biolink:NamedThing evolutionarily related to A relationship that holds via some environmental process|A relationship that holds via some environmental process tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000126 biolink:NamedThing in_lateral_side_of X in lateral side of Y <=> if X is in left side of Y or X is in right side of Y. X is often, but not always a paired structure|X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure|X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure|X in lateral side of Y <=> if X is in left side of Y or X is in right side of Y. X is often, but not always a paired structure tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000052 biolink:NamedThing characteristic of a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence|a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl inheres_in|inheres_in Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing.|Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. inheres in|inheres in this red color is a characteristic of this apple|this fragility is a characteristic of this vase|this red color is a characteristic of this apple|this fragility is a characteristic of this vase owl:ObjectProperty RO:0001901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl RO:0002314 biolink:NamedThing inheres in part of q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000053 biolink:NamedThing has characteristic a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence|Inverse of characteristic_of|a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence|Inverse of characteristic_of tmpak2llvmy_mondo_relaxed.owl bearer_of|is bearer of|is bearer of|bearer_of A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist.|A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. bearer of|bearer of this apple is bearer of this red color|this vase is bearer of this fragility|this vase is bearer of this fragility|this apple is bearer of this red color owl:ObjectProperty RO:0002305 biolink:NamedThing causally upstream of, negative effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002411 biolink:NamedThing causally upstream of p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain|p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0004046 biolink:NamedThing causally upstream of or within, negative effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002449 biolink:NamedThing directly negatively regulates activity of The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. tmpak2llvmy_mondo_relaxed.owl molecularly decreases activity of owl:ObjectProperty RO:0002336 biolink:NamedThing positively regulated by inverse of positively regulates|inverse of positively regulates tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002212 biolink:NamedThing negatively regulates Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002335 biolink:NamedThing negatively regulated by inverse of negatively regulates|inverse of negatively regulates tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002211 biolink:NamedThing regulates (processual) process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.|process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0009001 biolink:NamedThing has substance added "has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.|"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:ro.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000428 biolink:NamedThing requires discussion A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues. tmpak2llvmy_mondo_relaxed.owl group:OBI requires discussion Alan Ruttenberg owl:NamedIndividual RO:0004020 biolink:NamedThing disease has basis in dysfunction of A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.|A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. tmpak2llvmy_mondo_relaxed.owl RO:0004020|RO:0004020 disease_has_basis_in_dysfunction_of|disease_has_basis_in_dysfunction_of owl:ObjectProperty RO:0002231 biolink:NamedThing has start location x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y|x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002479 biolink:NamedThing has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.|p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0011002 biolink:NamedThing regulates activity of The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.|The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002436 biolink:NamedThing molecularly interacts with An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.|An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. tmpak2llvmy_mondo_relaxed.owl owl:SymmetricProperty RO:0002373 biolink:NamedThing has muscle insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002371 biolink:NamedThing attached to a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a|a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a tmpak2llvmy_mondo_relaxed.owl owl:SymmetricProperty RO:0002567 biolink:NamedThing biomechanically related to A relation that holds between elements of a musculoskeletal system or its analogs.|A relation that holds between elements of a musculoskeletal system or its analogs. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002200 biolink:NamedThing has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).|A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002201 biolink:NamedThing phenotype of inverse of has phenotype|inverse of has phenotype tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty owl:topObjectProperty biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002386 biolink:NamedThing has potential to developmentally induce x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y|x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002384 biolink:NamedThing has developmental potential involving x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).|x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:pato#different_in_magnitude_relative_to biolink:NamedThing different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0003000 biolink:NamedThing produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.|a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0003001 biolink:NamedThing produced by a produced_by b iff some process that occurs_in b has_output a.|a produced_by b iff some process that occurs_in b has_output a. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBI:0000312 biolink:NamedThing is_specified_output_of A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002418 biolink:NamedThing causally upstream of or within p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.|p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. tmpak2llvmy_mondo_relaxed.owl affects owl:ObjectProperty RO:0002163 biolink:NamedThing spatially disjoint from A is spatially_disjoint_from B if and only if they have no parts in common|A is spatially_disjoint_from B if and only if they have no parts in common tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002598 biolink:NamedThing capable of positively regulating Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002596 biolink:NamedThing capable of regulating Holds between c and p if and only if c is capable of some activity a, and a regulates p.|Holds between c and p if and only if c is capable of some activity a, and a regulates p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002202 biolink:NamedThing develops from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y|x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002309 biolink:NamedThing has exposure stimulus A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.|A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002244 biolink:NamedThing related via exposure to Any relationship between an exposure event or process and any other entity.|Any relationship between an exposure event or process and any other entity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002333 biolink:NamedThing enabled by inverse of enables|inverse of enables tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000057 biolink:NamedThing has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process|a relation between a process and a continuant, in which the continuant is somehow involved in the process tmpak2llvmy_mondo_relaxed.owl has_participant|has_participant Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time.|Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. has participant|has participant this blood coagulation has participant this blood clot|this investigation has participant this investigator|this process has participant this input material (or this output material)|this process has participant this input material (or this output material)|this blood coagulation has participant this blood clot|this investigation has participant this investigator http://www.obofoundry.org/ro/#OBO_REL:has_participant|http://www.obofoundry.org/ro/#OBO_REL:has_participant owl:ObjectProperty BFO:0000163 biolink:NamedThing material basis of at all times tmpak2llvmy_mondo_relaxed.owl BFO_0000163|BFO_0000163 BFO_0000163s|BFO_0000163s BFO_0000163ed|BFO_0000163ed owl:ObjectProperty OBO:MF#manifestationOf biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl manifestationOf|manifestationOf manifestationOfs|manifestationOfs manifestationOfed|manifestationOfed owl:ObjectProperty RO:0000086 biolink:NamedThing has quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl has_quality|has_quality A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist.|A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. this apple has quality this red color|this apple has quality this red color owl:ObjectProperty BSPO:0000121 biolink:NamedThing in_right_side_of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion.|X in right side of Y <=> if Y is subdivided into two left and right portions, X is part of the right portion.|X in right side of Y <=> if Y is subdivided into two left and right portions, X is part of the right portion.|X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004047 biolink:NamedThing causally upstream of or within, positive effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002254 biolink:NamedThing has developmental contribution from x has developmental contribution from y iff x has some part z such that z develops from y|x has developmental contribution from y iff x has some part z such that z develops from y tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0002255 biolink:NamedThing developmentally contributes to inverse of has developmental contribution from|inverse of has developmental contribution from tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty FOODON:00001563 biolink:NamedThing has defining ingredient A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.|A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty FOODON:00002420 biolink:NamedThing has ingredient A relation attaching between a food material and another food material that has been added to it at some point in its history.|A relation attaching between a food material and another food material that has been added to it at some point in its history. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000080 biolink:NamedThing quality of a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence|a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl is quality of|quality_of|quality_of|is quality of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A quality inheres in its bearer at all times for which the quality exists.|A quality inheres in its bearer at all times for which the quality exists. this red color is a quality of this apple|this red color is a quality of this apple owl:ObjectProperty RO:0002405 biolink:NamedThing immediately causally downstream of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002404 biolink:NamedThing causally downstream of inverse of upstream of|inverse of upstream of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002412 biolink:NamedThing immediately causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q.|p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002087 biolink:NamedThing immediately_preceded_by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) tmpak2llvmy_mondo_relaxed.owl is immediately preceded by|starts_at_end_of|directly preceded by|is directly preceded by starts_at_end_of|starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0010002 biolink:NamedThing is carrier of *b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t*|*b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t* tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000087 biolink:NamedThing has role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl has_role|has_role A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists.|A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. this person has role this investigator role (more colloquially: this person has this role of investigator)|this person has role this investigator role (more colloquially: this person has this role of investigator) owl:ObjectProperty RO:0002502 biolink:NamedThing depends on tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002224 biolink:NamedThing starts with x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpak2llvmy_mondo_relaxed.owl started by|started by Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor|Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor Chris Mungall|Chris Mungall owl:TransitiveProperty BFO:0000051 biolink:NamedThing has part a core relation that holds between a whole and its part|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|a core relation that holds between a whole and its part tmpak2llvmy_mondo_relaxed.owl has_part|has_part Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'. has part|has part my body has part my brain (continuant parthood, two material entities)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities)|this year has part this day (occurrent parthood)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity) owl:ObjectProperty RO:0002597 biolink:NamedThing capable of negatively regulating Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002430 biolink:NamedThing involved in negative regulation of c involved in regulation of p if c is involved in some p' and p' negatively regulates some p|c involved in regulation of p if c is involved in some p' and p' negatively regulates some p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty IAO:0000136 biolink:NamedThing is about A (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity.|A (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002559 biolink:NamedThing causally influenced by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002506 biolink:NamedThing causal relation between entities tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002566 biolink:NamedThing causally influences The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).|The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002563 biolink:NamedThing interaction relation helper property tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002464 biolink:NamedThing helper property (not for use in curation) tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002569 biolink:NamedThing has branching part inverse of branching part of|inverse of branching part of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002375 biolink:NamedThing in branching relationship with A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.|A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002327 biolink:NamedThing enables tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002215 biolink:NamedThing capable_of A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. |A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000058 biolink:NamedThing is concretized as A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants.|A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants. tmpak2llvmy_mondo_relaxed.owl A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). owl:ObjectProperty RO:0000059 biolink:NamedThing concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant.|A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. tmpak2llvmy_mondo_relaxed.owl An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). owl:ObjectProperty RO:0002221 biolink:NamedThing surrounds inverse of surrounded by|inverse of surrounded_by|inverse of surrounded_by|inverse of surrounded by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0005001 biolink:NamedThing intersects_midsagittal_plane_of X intersects_median_plane of iff X crosses the midine plane of Y.|X intersects median plane of iff X crosses the midine plane of Y.|X intersects median plane of iff X crosses the midine plane of Y.|X intersects_median_plane of iff X crosses the midine plane of Y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002210 biolink:NamedThing directly develops into inverse of directly develops from|inverse of directly develops from tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0010001 biolink:NamedThing generically depends on A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*.|A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*. tmpak2llvmy_mondo_relaxed.owl g-depends on owl:ObjectProperty RO:0002629 biolink:NamedThing directly positively regulates Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.|Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002213 biolink:NamedThing positively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:posteriorly_connected_to biolink:NamedThing posteriorly connected to x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y.|x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000096 biolink:NamedThing anterior_to x anterior to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail.|x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer|x anterior to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that extends through an organism from head end to opposite end of body or tail.|x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002323 biolink:NamedThing mereotopologically related to A mereological relationship or a topological relationship|A mereological relationship or a topological relationship tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002568 biolink:NamedThing has muscle antagonist m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002120 biolink:NamedThing synapsed to Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. | Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002486 biolink:NamedThing sends output to tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBI:0000417 biolink:NamedThing achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002234 biolink:NamedThing has output p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002353 biolink:NamedThing output of inverse of has output|inverse of has output tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:layer_part_of biolink:NamedThing layer part of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002350 biolink:NamedThing member of is member of is a mereological relation between a item and a collection.|is member of is a mereological relation between a item and a collection. tmpak2llvmy_mondo_relaxed.owl member part of|is member of|member part of|is member of SIO|SIO An organism that is a member of a population of organisms|An organism that is a member of a population of organisms owl:ObjectProperty RO:0002351 biolink:NamedThing has member has member is a mereological relation between a collection and an item.|has member is a mereological relation between a collection and an item. tmpak2llvmy_mondo_relaxed.owl SIO|SIO owl:ObjectProperty RO:0002509 biolink:NamedThing determined by part of s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.|s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004023 biolink:NamedThing causal relationship with disease as subject tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0040035 biolink:NamedThing disease relationship This relation groups relations between diseases and any other kind of entity.|This relation groups relations between diseases and any other kind of entity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004025 biolink:NamedThing disease causes dysfunction of tmpak2llvmy_mondo_relaxed.owl RO:0004025|RO:0004025 disease_causes_dysfunction_of|disease_causes_dysfunction_of owl:ObjectProperty BFO:0000117 biolink:NamedThing has occurrent part tmpak2llvmy_mondo_relaxed.owl BFO_0000117|BFO_0000117 BFO_0000117s|BFO_0000117s BFO_0000117ed|BFO_0000117ed owl:ObjectProperty BFO:0000132 biolink:NamedThing part of occurrent tmpak2llvmy_mondo_relaxed.owl BFO_0000132|BFO_0000132 BFO_0000132s|BFO_0000132s BFO_0000132ed|BFO_0000132ed owl:ObjectProperty UBERON_CORE:extends_fibers_into biolink:NamedThing extends_fibers_into tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000097 biolink:NamedThing distal_to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).|x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty BSPO:0000100 biolink:NamedThing proximal_to x proximal to y iff x is closer to the point of attachment with the body than y.|x proximal_to y iff x is closer to the point of attachment with the body than y.|x proximal_to y iff x is closer to the point of attachment with the body than y.|x proximal to y iff x is closer to the point of attachment with the body than y. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0000085 biolink:NamedThing has function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl has_function|has_function A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists.|A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists. this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function)|this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function) owl:ObjectProperty RO:0002090 biolink:NamedThing immediately precedes tmpak2llvmy_mondo_relaxed.owl meets|ends_at_start_of|ends_at_start_of|meets X immediately_precedes_Y iff: end(X) simultaneous_with start(Y)|X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002219 biolink:NamedThing surrounded_by x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x|x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y|x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x|x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0001115 biolink:NamedThing postaxialmost_part_of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002086 biolink:NamedThing ends after tmpak2llvmy_mondo_relaxed.owl X ends_after Y iff: end(Y) before_or_simultaneous_with end(X)|X ends_after Y iff: end(Y) before_or_simultaneous_with end(X) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002160 biolink:NamedThing only in taxon S only_in_taxon T iff: S SubClassOf in_taxon only T|x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.|S only_in_taxon T iff: S SubClassOf in_taxon only T|x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002162 biolink:NamedThing in taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.|x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. tmpak2llvmy_mondo_relaxed.owl RO:0002162|RO:0002162 in_taxon|in_taxon owl:ObjectProperty RO:0002331 biolink:NamedThing involved in c involved_in p if and only if c enables some process p', and p' is part of p|c involved_in p if and only if c enables some process p', and p' is part of p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002431 biolink:NamedThing involved in or involved in regulation of c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p|c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002229 biolink:NamedThing ends inverse of ends with|Relation between occurrents, shares an end boundary with.|Relation between occurrents, shares an end boundary with.|inverse of ends with tmpak2llvmy_mondo_relaxed.owl finishes Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002230 biolink:NamedThing ends with x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpak2llvmy_mondo_relaxed.owl finished by|finished by Chris Mungall|Chris Mungall owl:TransitiveProperty OBI:0000299 biolink:NamedThing has_specified_output A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000124 biolink:NamedThing in_proximal_side_of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.|x in proximal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the proximal portion.|X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.|x in proximal side of y <=> if y is subdivided into two proximal and distal portions, y is part of the proximal portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0001015 biolink:NamedThing location of a relation between two independent continuants, the location and the target, in which the target is entirely within the location|a relation between two independent continuants, the location and the target, in which the target is entirely within the location tmpak2llvmy_mondo_relaxed.owl location_of|location_of Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ is location of|is location of this cage is the location of this rat|my head is the location of my brain|my head is the location of my brain|this cage is the location of this rat owl:TransitiveProperty RO:0001025 biolink:NamedThing located in a relation between two independent continuants, the target and the location, in which the target is entirely within the location|a relation between two independent continuants, the target and the location, in which the target is entirely within the location tmpak2llvmy_mondo_relaxed.owl located_in|located_in Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus located in|located in my brain is located in my head|this rat is located in this cage|this rat is located in this cage|my brain is located in my head http://www.obofoundry.org/ro/#OBO_REL:located_in|http://www.obofoundry.org/ro/#OBO_REL:located_in owl:ObjectProperty RO:0004032 biolink:NamedThing acts upstream of or within, positive effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002264 biolink:NamedThing acts upstream of or within c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.|c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. tmpak2llvmy_mondo_relaxed.owl affects owl:ObjectProperty MONDO:0100332 biolink:NamedThing disease has primary infectious agent tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0014001 biolink:NamedThing disease has infectious agent A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent.|A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent. tmpak2llvmy_mondo_relaxed.owl RO:0014001|RO:0014001 disease_has_infectious_agent|disease_has_infectious_agent owl:ObjectProperty RO:0004029 biolink:NamedThing disease has feature A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.|A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. tmpak2llvmy_mondo_relaxed.owl RO:0004029|RO:0004029 disease_has_feature|disease_has_feature owl:ObjectProperty OBI:0000295 biolink:NamedThing is_specified_input_of A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0001106 biolink:NamedThing proximalmost_part_of X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y|X proximalmost part of Y <=> X is in proximal side of Y and X is adjacent to the proximal boundary of Y|X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y|X proximalmost part of Y <=> X is in proximal side of Y and X is adjacent to the proximal boundary of Y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BFO:0000067 biolink:NamedThing contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpak2llvmy_mondo_relaxed.owl Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant site of|site of owl:ObjectProperty OBO:bfo.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl RO:0000081 biolink:NamedThing role of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence|a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl role_of|is role of|role_of|is role of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists.|A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. this investigator role is a role of this person|this investigator role is a role of this person owl:ObjectProperty BSPO:0001107 biolink:NamedThing immediately deep to This relation holds when both the deep_to and ajdacent_to relationship similarly hold.|x immediately deep to y iff x deep_to y and x is contiguous with y.|x immediately deep to y iff x deep_to y and x is contiguous with y.|This relation holds when both the deep_to and ajdacent_to relationship similarly hold. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000107 biolink:NamedThing deep to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines.|Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002379 biolink:NamedThing spatially coextensive with x spatially_coextensive_with y if and inly if x and y have the same location|x spatially_coextensive_with y if and inly if x and y have the same location tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002385 biolink:NamedThing has potential to developmentally contribute to x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002490 biolink:NamedThing existence overlaps x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))|x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002487 biolink:NamedThing relation between physical entity and a process or stage tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002007 biolink:NamedThing bounding layer of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000|X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002372 biolink:NamedThing has muscle origin m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002263 biolink:NamedThing acts upstream of c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.|c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002374 biolink:NamedThing derived from ancestral fusion of x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat tmpak2llvmy_mondo_relaxed.owl has fused element owl:ObjectProperty RO:0002013 biolink:NamedThing has regulatory component activity A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.|A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002017 biolink:NamedThing has component activity tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002216 biolink:NamedThing capable of part of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.|c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002572 biolink:NamedThing luminal space of s is luminal space of x iff s is lumen_of x and s is an immaterial entity|s is luminal space of x iff s is lumen_of x and s is an immaterial entity tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002571 biolink:NamedThing lumen of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.|x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002497 biolink:NamedThing existence ends during or before x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.|x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004035 biolink:NamedThing acts upstream of, negative effect c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative|c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004033 biolink:NamedThing acts upstream of or within, negative effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002000 biolink:NamedThing 2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity|a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity tmpak2llvmy_mondo_relaxed.owl is 2D boundary of|boundary of|2D_boundary_of|is boundary of|is 2D boundary of|boundary of|2D_boundary_of|is boundary of Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. the surface of my skin is a 2D boundary of my body|the surface of my skin is a 2D boundary of my body owl:ObjectProperty RO:0002002 biolink:NamedThing has boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity|a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity tmpak2llvmy_mondo_relaxed.owl has_2D_boundary|has boundary|has_2D_boundary|has boundary A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. my body has 2D boundary the surface of my skin|my body has 2D boundary the surface of my skin owl:ObjectProperty BSPO:0001113 biolink:NamedThing preaxialmost_part_of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002177 biolink:NamedThing attaches_to_part_of a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.|a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0001101 biolink:NamedThing in_deep_part_of X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion.|X superficial part of Y <=> if Y is subdivided into two superficial and deep portions, X is part of the deep portion.|X superficial part of Y <=> if Y is subdivided into two superficial and deep portions, X is part of the deep portion.|X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002488 biolink:NamedThing existence starts during Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s.|x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. tmpak2llvmy_mondo_relaxed.owl begins_to_exist_during owl:ObjectProperty RO:0002496 biolink:NamedThing existence starts during or after x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).|x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002024 biolink:NamedThing directly positively regulated by Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.|Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002376 biolink:NamedThing tributary_of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.|x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. tmpak2llvmy_mondo_relaxed.owl drains into owl:ObjectProperty RO:0000092 biolink:NamedThing disposition of inverse of has disposition|inverse of has disposition tmpak2llvmy_mondo_relaxed.owl This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. owl:ObjectProperty BFO:0000063 biolink:NamedThing precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpak2llvmy_mondo_relaxed.owl precedes|precedes owl:TransitiveProperty RO:0002232 biolink:NamedThing has end location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y|x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004034 biolink:NamedThing acts upstream of, positive effect c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive|c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002233 biolink:NamedThing has input p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.|p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002432 biolink:NamedThing is active in c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.|c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. tmpak2llvmy_mondo_relaxed.owl enables activity in owl:ObjectProperty RO:0002287 biolink:NamedThing part of developmental precursor of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004018 biolink:NamedThing is basis for realizable tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty NCIT:R163 biolink:NamedThing Procedure_Has_Target_Anatomy tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004027 biolink:NamedThing disease has inflammation site A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity|A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity tmpak2llvmy_mondo_relaxed.owl RO:0004027|RO:0004027 disease_has_inflammation_site|disease_has_inflammation_site owl:ObjectProperty RO:0004026 biolink:NamedThing disease has location A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.|A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. tmpak2llvmy_mondo_relaxed.owl RO:0004026|RO:0004026 disease_has_location|disease_has_location owl:ObjectProperty OBO:pato#decreased_in_magnitude_relative_to biolink:NamedThing decreased_in_magnitude_relative_to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002485 biolink:NamedThing receives input from tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:transitively_connected_to biolink:NamedThing transitively_connected to tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0002103 biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. |Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002492 biolink:NamedThing existence ends during Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely.|x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).|Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely.|x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). tmpak2llvmy_mondo_relaxed.owl ceases_to_exist_during owl:ObjectProperty RO:0002434 biolink:NamedThing interacts with A relationship that holds between two entities in which the processes executed by the two entities are causally connected.|A relationship that holds between two entities in which the processes executed by the two entities are causally connected. tmpak2llvmy_mondo_relaxed.owl in pairwise interaction with owl:SymmetricProperty RO:0002304 biolink:NamedThing causally upstream of, positive effect tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty NCIT:R82 biolink:NamedThing Anatomic_Structure_Is_Physical_Part_Of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004011 biolink:NamedThing is causal gain of function germline mutation of in Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].|Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet]. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004017 biolink:NamedThing realizable has basis in tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0009501 biolink:NamedThing realized in response to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.|r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. tmpak2llvmy_mondo_relaxed.owl triggered by process RO:0009501|RO:0009501 realized_in_response_to|realized_in_response_to owl:ObjectProperty RO:0002491 biolink:NamedThing existence starts and ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)|x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) tmpak2llvmy_mondo_relaxed.owl exists during owl:ObjectProperty RO:0002256 biolink:NamedThing developmentally induced by t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T.|t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T|t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T.|t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002257 biolink:NamedThing developmentally induces Inverse of developmentally induced by|Inverse of developmentally induced by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002134 biolink:NamedThing innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.|Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_low_plasma_membrane_amount biolink:NamedThing has_low_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002104 biolink:NamedThing has plasma membrane part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.|Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004021 biolink:NamedThing disease caused by disruption of A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.|A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. tmpak2llvmy_mondo_relaxed.owl RO:0004021|RO:0004021 Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in|Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in disease_has_basis_in_disruption_of|disease_has_basis_in_disruption_of owl:ObjectProperty RO:0004024 biolink:NamedThing disease disrupts A relationship between a disease and a process where the disease process disrupts the execution of the process.|A relationship between a disease and a process where the disease process disrupts the execution of the process. tmpak2llvmy_mondo_relaxed.owl RO:0004024|RO:0004024 disease_disrupts|disease_disrupts owl:ObjectProperty RO:0004022 biolink:NamedThing disease arises from feature A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.|A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. tmpak2llvmy_mondo_relaxed.owl RO:0004022|RO:0004022 disease_arises_from_feature|disease_arises_from_feature owl:TransitiveProperty RO:0002508 biolink:NamedThing determines inverse of determined by|inverse of determined by tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_has_major_feature biolink:NamedThing disease has major feature tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002150 biolink:NamedThing continuous with X continuous_with Y if and only if X and Y share a fiat boundary.|X continuous_with Y if and only if X and Y share a fiat boundary. tmpak2llvmy_mondo_relaxed.owl owl:SymmetricProperty RO:0002081 biolink:NamedThing before or simultaneous with tmpak2llvmy_mondo_relaxed.owl <=|<= Primitive instance level timing relation between events|Primitive instance level timing relation between events David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002551 biolink:NamedThing has skeleton A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision.|A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.|A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.|A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. tmpak2llvmy_mondo_relaxed.owl has sekeletal support|has supporting framework owl:IrreflexiveProperty RO:0002576 biolink:NamedThing skeleton of inverse of has skeleton|inverse of has skeleton tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002564 biolink:NamedThing molecular interaction relation helper property tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0001000 biolink:NamedThing derives from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpak2llvmy_mondo_relaxed.owl derives_from|derives_from This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'. this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division)|this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division) owl:ObjectProperty RO:0001001 biolink:NamedThing derives into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpak2llvmy_mondo_relaxed.owl derives_into|derives_into This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'. this parent cell derives into this cell (cell division)|this parent nucleus derives into this nucleus (nuclear division)|this parent nucleus derives into this nucleus (nuclear division)|this parent cell derives into this cell (cell division) owl:ObjectProperty RO:0002507 biolink:NamedThing determined by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.|s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000098 biolink:NamedThing dorsal to x dorsal to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly).|x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000102 biolink:NamedThing ventral to x ventral to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).|x ventral to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that extends through an organism from back (e.g. spinal column) to front (e.g. belly). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBI:0000293 biolink:NamedThing has_specified_input A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002584 biolink:NamedThing has part structure that is capable of s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p|s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_high_plasma_membrane_amount biolink:NamedThing has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002225 biolink:NamedThing develops from part of x develops from part of y if and only if there exists some z such that x develops from z and z is part of y|x develops from part of y if and only if there exists some z such that x develops from z and z is part of y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004028 biolink:NamedThing realized in response to stimulus A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.|A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. tmpak2llvmy_mondo_relaxed.owl RO:0004028|RO:0004028 realized_in_response_to_stimulus|realized_in_response_to_stimulus owl:ObjectProperty RO:0002489 biolink:NamedThing existence starts with Relation between continuant and occurrent, such that c comes into existence at the start of p.|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).|Relation between continuant and occurrent, such that c comes into existence at the start of p.|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002303 biolink:NamedThing has habitat x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.|x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002321 biolink:NamedThing ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)|A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002354 biolink:NamedThing formed as result of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000120 biolink:NamedThing in left side of X in left side of Y <=> if Y is subdivided into two left and right portions, X is part of the left portion.|X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion.|X in left side of Y <=> if Y is subdivided into two left and right portions, X is part of the left portion.|X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002179 biolink:NamedThing drains Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.|Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. tmpak2llvmy_mondo_relaxed.owl drains from|drains blood from owl:ObjectProperty OBO:obi.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0100333 biolink:NamedThing disease caused by reactivation of latent infectious agent tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0002025 biolink:NamedThing has effector activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity.|A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004001 biolink:NamedThing has material basis in gain of function germline mutation in tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BSPO:0000123 biolink:NamedThing in anterior side of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion.|X anterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the anterior portion.|X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion.|X anterior side of Y <=> if Y is subdivided into two anterior and posterior portions, X is part of the anterior portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0004031 biolink:NamedThing enables subfunction Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.|Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002451 biolink:NamedThing transmitted by A relationship that holds between a disease and organism|A relationship that holds between a disease and organism tmpak2llvmy_mondo_relaxed.owl RO:0002451|RO:0002451 transmitted_by|transmitted_by owl:ObjectProperty RO:0002630 biolink:NamedThing directly negatively regulates Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.|Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002481 biolink:NamedThing is kinase activity tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002380 biolink:NamedThing branching_part_of x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y|x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002295 biolink:NamedThing results in developmental progression of p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).|p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty BFO:0000062 biolink:NamedThing preceded by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) tmpak2llvmy_mondo_relaxed.owl is preceded by|takes place after preceded_by|is preceded by|preceded_by|is preceded by An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other.|An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other. preceded by|preceded by http://www.obofoundry.org/ro/#OBO_REL:preceded_by|http://www.obofoundry.org/ro/#OBO_REL:preceded_by owl:ObjectProperty OBO:chebi#is_conjugate_acid_of biolink:NamedThing is conjugate acid of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_conjugate_base_of biolink:NamedThing is conjugate base of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:proximally_connected_to biolink:NamedThing proximally connected to x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y.|x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:transitively_proximally_connected_to biolink:NamedThing transitively proximally connected to .|. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0001018 biolink:NamedThing contained in tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0001019 biolink:NamedThing contains tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002447 biolink:NamedThing phosphorylates tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002082 biolink:NamedThing simultaneous with Relation between occurrents, shares start and end boundaries.|Relation between occurrents, shares start and end boundaries. tmpak2llvmy_mondo_relaxed.owl is_equal_to|coincides_with t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2)|t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002223 biolink:NamedThing starts Relation between occurrents, shares a start boundary with.|inverse of starts with|inverse of starts with|Relation between occurrents, shares a start boundary with. tmpak2llvmy_mondo_relaxed.owl Allen|Allen Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002226 biolink:NamedThing develops in x develops_in y if x is located in y whilst x is developing|x develops_in y if x is located in y whilst x is developing tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002573 biolink:NamedThing has modifier A relation that holds between an attribute or a qualifier and another attribute.|A relation that holds between an attribute or a qualifier and another attribute. tmpak2llvmy_mondo_relaxed.owl RO:0002573|RO:0002573 has_modifier|has_modifier owl:ObjectProperty RO:0002473 biolink:NamedThing composed primarily of x composed_primarily_of y iff: more than half of the mass of x is made from parts of y|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.|x composed_primarily_of y iff: more than half of the mass of x is made from parts of y|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002493 biolink:NamedThing existence ends with x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|Relation between continuant and occurrent, such that c ceases to exist at the end of p.|x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|Relation between continuant and occurrent, such that c ceases to exist at the end of p. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty PMID:17921072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl PMID:20973947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl RO:0002015 biolink:NamedThing has positive regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0000079 biolink:NamedThing function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence|a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl function_of|is function of|function_of|is function of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists.|A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists. this catalysis function is a function of this enzyme|this catalysis function is a function of this enzyme owl:ObjectProperty RO:0002297 biolink:NamedThing results in formation of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002285 biolink:NamedThing developmentally replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else|x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002176 biolink:NamedThing connects Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship.|c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.|Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship.|c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:pato#increased_in_magnitude_relative_to biolink:NamedThing increased_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty BFO:0000066 biolink:NamedThing occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpak2llvmy_mondo_relaxed.owl occurs_in|unfolds_in|unfolds in|unfolds in|occurs_in|unfolds_in Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant occurs in|occurs in owl:ObjectProperty UBERON_CORE:sexually_homologous_to biolink:NamedThing sexually_homologous_to tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002158 biolink:NamedThing shares ancestor with two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.|two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0000091 biolink:NamedThing has disposition a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002084 biolink:NamedThing during which ends tmpak2llvmy_mondo_relaxed.owl Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range.|Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range. David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty UBERON_CORE:channel_for biolink:NamedThing channel for tmpak2llvmy_mondo_relaxed.owl carries owl:ObjectProperty UBERON_CORE:distally_connected_to biolink:NamedThing distally connected to x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y.|x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:transitively_distally_connected_to biolink:NamedThing transitively distally connected to .|. tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty RO:0002178 biolink:NamedThing supplies Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|relation between an artery and the structure is supplies with blood.|Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|relation between an artery and the structure is supplies with blood. tmpak2llvmy_mondo_relaxed.owl arterial supply of owl:ObjectProperty NCIT:R81 biolink:NamedThing Anatomic_Structure_Has_Location tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty BSPO:0015102 biolink:NamedThing in_ventral_side_of X ventral side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the ventral portion.|X ventral side of Y <=> if Y is subdivided into two dorsal and ventral portions, X is part of the ventral portion. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002005 biolink:NamedThing innervated_by tmpak2llvmy_mondo_relaxed.owl nerve supply owl:ObjectProperty RO:0002023 biolink:NamedThing directly negatively regulated by Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.|Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002322 biolink:NamedThing confers advantage in tmpak2llvmy_mondo_relaxed.owl adapted_for owl:ObjectProperty RO:0002014 biolink:NamedThing has negative regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty NCBITaxon:genus biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126692004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#harrisons_view biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl harrisons_view owl:AnnotationProperty NCIT:C34558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_group_of_disorders biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl group of disorders owl:AnnotationProperty OBO:mondo#ordo_disease biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl disease owl:AnnotationProperty NCIT:C131849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0040964 biolink:NamedThing obsolete superimposed infection tmpak2llvmy_mondo_relaxed.owl suprainfection|superimposed infection|superadded infection UMLS:C0038826|SCTID:193198003 True owl:Class UMLS:C0038826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#disease_grouping biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl disease_grouping owl:AnnotationProperty MESH:C562543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/sparql/qc/general/qc-single-child.sparql biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:species biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#gard_rare biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GARD rare disease subset owl:AnnotationProperty https://omim.org/entry/613670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/infectious_disease_by_agent.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_dysfunctional_structure.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/specific_infectious_disease_by_location.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:707466008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70020005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/sparql/qc/mondo/qc-omim-subsumption.sparql biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82636008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#predisposition biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Diseases that are pre-dispositions to other diseases owl:AnnotationProperty SNOMEDCT:127020005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721845005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254622008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN429988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_malformation_syndrome biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl malformation syndrome owl:AnnotationProperty ORPHA:199627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3928002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#n_of_one biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N of one owl:AnnotationProperty OIO:SubsetProperty biolink:NamedThing subset_property tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:18116006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_etiological_subtype biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl etiological subtype owl:AnnotationProperty UMLS:C0155389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715991005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418134006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/location.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719021005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715867000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0745136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65340007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/cancer.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:hp.obo#hposlim_core biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:12170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702772003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715983001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3836857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/OMIM_phenotypic_series.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4076724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subspecies biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409712001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95279007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267440005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/206920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254870004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015506 biolink:NamedThing obsolete rare syndrome with cardiac malformations tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:156532|UMLS:CN199638 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:720818003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/specific_inflammatory_disease_by_site.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:16 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48528004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019711 biolink:NamedThing obsolete dysostosis with predominant vertebral and costal involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:93454 True owl:Class ORPHA:93454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020484 biolink:NamedThing obsolete rare familial disorder with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl rare familial disorder with hypertrophic subaortic stenosis|rare familial disorder with hypertrophic obstructive cardiomyopathy MONDO:outOfScope Orphanet:99739 MESH:D024741|UMLS:C0949658 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:263516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018730 biolink:NamedThing obsolete rare genetic venous malformation An instance of rare venous malformation that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic rare venous malformation MONDO:outOfScope Orphanet:459548|UMLS:CN241790 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN241790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57219006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/adenoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/location_top.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43248007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0574090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2607932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764435003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0685053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN037257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715861004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1368918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_morphological_anomaly biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl morphological anomaly owl:AnnotationProperty MESH:D010018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:525738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715647007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193549003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm_grade1.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92546004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190724004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48522003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231858009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:family biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/chronic.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725167001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:clade biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:404511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765756007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:superkingdom biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C000598640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724282009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766719006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716106000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_clinical_subtype biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl clinical subtype owl:AnnotationProperty DOID:0050812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18377001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400178008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40410004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/carcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63042009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1367861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#prototype_pattern biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149 owl:AnnotationProperty OBO:mondo/patterns/hereditary.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:pato#location_grouping biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C39868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000839 biolink:NamedThing obsolete congenital abnormality Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. tmpak2llvmy_mondo_relaxed.owl congenital anatomical Abnormality|fetal malformation|foetal malformation|defect/deformity, Congenital|congenital malformation|congenital abnormality|congenital deformity|congenital defect|fetal developmental abnormality|congenital anomaly|congenital anatomic Abnormality|deformity/defect, Congenital|physical disorder|birth defect|SCONG|congenital anomalies of fetus|congenital anomaly or birth defect|CM - congenital malformation|congenital defect/deformity|congenital Abnormality|defect/deformity, congenital out of scope EFO:0003915|UMLS:CN232116|DOID:0080015|MESH:D000013|ICD9:759.89|ICD10:Q00.Q99|SCTID:276654001|NCIT:C2849|ICD9:759.9 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:276654001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/neoplasm.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766935007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91952008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3135009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49292002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239085000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4120002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:282166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:57145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#clingen biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl initial subset used by clingen owl:AnnotationProperty DOID:12961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/carcinoma_in_situ.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722033000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN232144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717977003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399964004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764629008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D038261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717337001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#obsoletion_candidate biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl obsoletion candidate owl:AnnotationProperty ORPHA:255229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47704002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015122 biolink:NamedThing obsolete rare diabetes mellitus Rare diabetes mellitus. tmpak2llvmy_mondo_relaxed.owl rare diabetes mellitus (disease)|rare diabetes mellitus MONDO:0005015 UMLS:CN226600|Orphanet:101952 UMLS:C0011849|UMLS:C0011860 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444820005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/infantile.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711161006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719161008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43916004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C72070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:285310000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017680 biolink:NamedThing obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature tmpak2llvmy_mondo_relaxed.owl autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature Orphanet:308041|UMLS:CN203567 True https://github.com/monarch-initiative/mondo/pull/2317 owl:Class MONDO:0017678 biolink:NamedThing obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature A disease in which punctate palmoplantar keratoderma is a major feature.. tmpak2llvmy_mondo_relaxed.owl disease with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. Orphanet:308023|UMLS:CN203565 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/1521 owl:Class MONDO:0020671 biolink:NamedThing obsolete susceptibility to ischemic stroke tmpak2llvmy_mondo_relaxed.owl stroke, ischemic|cerebrovascular accident|cerebral infarction OMIM:601367 Phenotype and not a disease. HP:0002140 True https://github.com/monarch-initiative/mondo/issues/2804 owl:Class NCIT:C119057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/susceptibility_by_gene.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class IAO:0000227 biolink:NamedThing terms merged tmpak2llvmy_mondo_relaxed.owl An editor note should explain what were the merged terms and the reason for the merge. terms merged IAO:0000225 NCIT:C40445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721076000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765326001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C71060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/mucoepidermoid_carcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018501 biolink:NamedThing obsolete rare carcinoma of stomach Rare stomach carcinoma. tmpak2llvmy_mondo_relaxed.owl rare gastric carcinoma|rare stomach carcinoma MONDO:0004950 Orphanet:423771 UMLS:C0699791 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0044275 biolink:NamedThing obsolete carotid intimal medial thickness 1 tmpak2llvmy_mondo_relaxed.owl intimal medial thickness of internal carotid artery|Cimt1|carotid intimal medial thickness 1 OMIM:609338 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/609338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416824008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:41751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/realized_in_response_to_environmental_exposure.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0243025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363367000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS117550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73132005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193468002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015958 biolink:NamedThing obsolete rare genetic bone disease Rare genetic bone disease. tmpak2llvmy_mondo_relaxed.owl rare genetic bone disease MONDO:0005381 UMLS:CN200553|Orphanet:183524 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/acquired.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015858 biolink:NamedThing obsolete rare non-malformative breast disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200460|Orphanet:180202 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:449156009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C140264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1959582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/vectorBorneDisease.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018797 biolink:NamedThing obsolete genetic cardiac malformation tmpak2llvmy_mondo_relaxed.owl Orphanet:477805 MONDO:0005453 True https://github.com/monarch-initiative/mondo/issues/1175 owl:Class UMLS:C1865234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363354003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238631008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018457 biolink:NamedThing obsolete rare genetic bone development disorder tmpak2llvmy_mondo_relaxed.owl rare genetic skeletal development disorder MONDO:outOfScope Orphanet:404584|UMLS:CN227376 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCBITaxon:suborder biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69322001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719835006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442416002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C146899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/239800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715904005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019710 biolink:NamedThing obsolete dysostosis with predominant craniofacial involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:93453 True owl:Class UMLS:C0432194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109298000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN317536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/inflammatory_disease_by_site.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:102449007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715505002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50866000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/benign_neoplasm.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302859004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128207002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702350003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000204 biolink:NamedThing obsolete skin creases, congenital symmetric circumferential tmpak2llvmy_mondo_relaxed.owl OMIMPS:156610 True owl:Class https://omim.org/phenotypicSeries/PS156610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_histopathological_subtype biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl histopathological subtype owl:AnnotationProperty DOID:2846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/adult.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/lymphoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015319 biolink:NamedThing obsolete rare disease with Pierre Robin syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN199290|Orphanet:138044 UMLS:C0031900 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:90301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/autosomal_dominant.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN671930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734026006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:138059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015949 biolink:NamedThing obsolete rare genetic subcutaneous tissue disorder tmpak2llvmy_mondo_relaxed.owl genetic subcutaneous tissue disorder MONDO:0000001 UMLS:CN200546|Orphanet:183484 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/606528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:4866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715316005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:536391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1299598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187692001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017260 biolink:NamedThing obsolete systemic diseases with posterior uveitis tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:CN202778|Orphanet:280930 This is a grouping class that is considered out of scope. MONDO:0006918 True owl:Class https://github.com/monarch-initiative/mondo/issues/3612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/disrupts_process.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017655 biolink:NamedThing obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature tmpak2llvmy_mondo_relaxed.owl Orphanet:306762 True https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:306762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35055000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50658006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715215007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015886 biolink:NamedThing obsolete rare diabetes mellitus type 1 Any of the forms of type 1 diabetes mellitus that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare insulin-dependent diabetes mellitus|rare type 1 diabetes mellitus MONDO:0005147 Orphanet:181371 UMLS:C0011854 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4304999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15628003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:45453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:110007008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360481003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35091000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18260003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/congenital.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015891 biolink:NamedThing obsolete hypogonadotropic hypogonadism associated with other endocrinopathies tmpak2llvmy_mondo_relaxed.owl Orphanet:181390 True owl:Class UMLS:C1290309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128212001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN037259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:174590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0362030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015621 biolink:NamedThing obsolete rare abdominal surgical disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 Orphanet:165711|UMLS:CN199996 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/syndromic.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:ncbitaxon.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89242004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0020222 biolink:NamedThing obsolete rare disease with glaucoma as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207054|Orphanet:98638 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN207054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_inheritance_inconsistent biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty ORPHA:371024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:serotype biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:class biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721015008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018792 biolink:NamedThing obsolete Moyamoya syndrome tmpak2llvmy_mondo_relaxed.owl rare disorder with a Moyamoya angiopathy Orphanet:477771|UMLS:CN776904 Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy. MONDO:0016820 True https://github.com/monarch-initiative/mondo/issues/1767 owl:Class ORPHA:477771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:pato.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subtribe biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020017 biolink:NamedThing obsolete rare otorhinolaryngologic disease Any of the forms of otorhinolaryngologic disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare otorhinolaryngologic disease|rare head and neck disease MONDO:0024623 UMLS:CN206950|Orphanet:98036 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1955934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14785004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10026820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017141 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional thrombocytopenia tmpak2llvmy_mondo_relaxed.owl rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare bleeding disorder due to a constitutional thrombocytopenia|rare coagulopathy due to a quantitative platelet defect|rare bleeding disorder due to a quantitative platelet defect|rare coagulopathy due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect out of scope Orphanet:275729|UMLS:CN227098 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN227098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:phylum biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015971 biolink:NamedThing obsolete rare genetic adrenal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005495 UMLS:CN200570|Orphanet:183637 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1302772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:538574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020002 biolink:NamedThing obsolete rare surgical thoracic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 UMLS:CN206935|Orphanet:97962 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0457533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92443005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42345000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS156200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77121009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711403001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015603 biolink:NamedThing obsolete rare odontal or periodontal disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226712|Orphanet:164001 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN226712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719041000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733195008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446887007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725135004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0007435 biolink:NamedThing obsolete Diffuse palmoplantar keratoderma tmpak2llvmy_mondo_relaxed.owl HP:0007447 True human_phenotype owl:Class DOID:0110704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0598428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195136004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105969002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10041307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190828008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016131 biolink:NamedThing obsolete spinal muscular atrophy associated with central nervous system anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:207012 True owl:Class UMLS:CN203006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30292005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237657009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:589608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126916003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699310000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3276432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234097001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/leiomyoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/basis_in_disruption_of_process.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8493009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10597006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238068007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2032001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82675004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN461628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58795000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023156 biolink:NamedThing obsolete fibular aplasia tmpak2llvmy_mondo_relaxed.owl GARD:0008659 HP:0002990 True owl:Class UMLS:CN033664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765746008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719379001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_disrupted_process.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0029042 biolink:NamedThing obsolete ureteropelvic junction obstruction tmpak2llvmy_mondo_relaxed.owl HP:0000074 DOID:0111145 True owl:Class DOID:0111145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015859 biolink:NamedThing obsolete rare non-malformative uterovaginal or vulvovaginal disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200461|Orphanet:180205 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C537940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0598790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230572002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2960113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0475801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:45358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24129002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Arabidopsis biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:609575003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188155002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718772002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015245 biolink:NamedThing obsolete rare intestinal disease Rare intestinal disease. tmpak2llvmy_mondo_relaxed.owl rare intestinal disease MONDO:0005020 Orphanet:117569 UMLS:C0021831 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C564524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77949003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237467005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:ons.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726706008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/benign.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25476006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019300 biolink:NamedThing obsolete rare skin tumor or hamartoma tmpak2llvmy_mondo_relaxed.owl Orphanet:79386|UMLS:CN205934 True owl:Class NCIT:C40285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018505 biolink:NamedThing obsolete rare tumor of small intestine Any of the forms of small intestine neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare tumor of small bowel|rare small intestine neoplasm MONDO:0004251 UMLS:CN237510|Orphanet:423793 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/605361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62964007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188204000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/551500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021668 biolink:NamedThing obsolete disorder involving pain tmpak2llvmy_mondo_relaxed.owl pain disorder out of scope MONDO:0700057 UMLS:C1300028|SCTID:373673007|DOID:0060164 True https://github.com/monarch-initiative/mondo/issues/3163 owl:Class ORPHA:88938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C105595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93451002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:order biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018409 biolink:NamedThing obsolete rare genetic disorder with obstructive azoospermia tmpak2llvmy_mondo_relaxed.owl rare genetic disorder due to impaired sperm transport MONDO:outOfScope UMLS:CN227352|Orphanet:400003 Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:400003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64859006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254666005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:512017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126969002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28944009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702400006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266438007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009641 biolink:NamedThing obsolete mitochondrial complex II deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0100294 Created new class that is child of OMIMPS. True https://github.com/monarch-initiative/mondo/issues/2758 owl:Class IAO:0000229 biolink:NamedThing term split tmpak2llvmy_mondo_relaxed.owl This is to be used when a term has been split in two or more new terms. An editor note should indicate the reason for the split and indicate the URIs of the new terms created. term split owl:NamedIndividual ORPHA:521438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15539009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:309084001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236655005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443416007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/childhood.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019748 biolink:NamedThing obsolete rare cause of hypertension tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:93618|UMLS:CN227685 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:93618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424114000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68528007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019062 biolink:NamedThing obsolete rare infectious disease Rare infectious disease. tmpak2llvmy_mondo_relaxed.owl rare infectious disease MONDO:0005550 UMLS:CN205543|Orphanet:68416 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:426768001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1720983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63302006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C90259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:363523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715345007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:1979165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:9957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020100 biolink:NamedThing obsolete rare hemolytic anemia Rare hemolytic anemia. tmpak2llvmy_mondo_relaxed.owl rare hemolytic anemia MONDO:0003664 Orphanet:98363 UMLS:C0002878 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:716248001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D049914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020094 biolink:NamedThing obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. tmpak2llvmy_mondo_relaxed.owl autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant MONDO:outOfScope UMLS:CN206998|Orphanet:98352 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:77489003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:234467004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718632004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234571003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0472817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230432008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717859007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719166003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000068116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019291 biolink:NamedThing obsolete rare genetic dermis disorder tmpak2llvmy_mondo_relaxed.owl dermis disorder MONDO:0021154 UMLS:CN227615|Orphanet:79377 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0020033 biolink:NamedThing obsolete rare digestive tumor Any of the forms of digestive system neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare digestive neoplasm|rare digestive cancer|rare digestive system neoplasm MONDO:0021223 UMLS:CN206958|Orphanet:98059 UMLS:C0017185|UMLS:C0685938|UMLS:C0012243 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:62251004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445738007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47673003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444911000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399107008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS168500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400951005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/melanoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69080001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255184001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733469003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:318316003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54539003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718107000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722488009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238676008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70461003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12427005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36976004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235878005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:42062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414024009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C135212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274134003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:319465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404133000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018723 biolink:NamedThing obsolete rare vascular malformation of major vessels tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN242093|Orphanet:458844 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:458844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716775009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763406004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50485007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92129006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715655000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26590002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38494008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23687008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5102002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77080005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001494 biolink:NamedThing obsolete transvestism A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. tmpak2llvmy_mondo_relaxed.owl cross dresser|dual-role transvestism|Transvestic fetishism UMLS:C0040774|ICD10:F65.1|DOID:1233|NCIT:C94359|SCTID:472981000|ICD10:F64.1|MESH:D014190|ICD9:302.3 True owl:Class SNOMEDCT:472981000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0494226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000747 biolink:NamedThing obsolete umbilical hernia A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. tmpak2llvmy_mondo_relaxed.owl ICD9:756.72|ICD9:553.1|DOID:0060321|UMLS:C0019322|SCTID:396347007|NCIT:C118375|MESH:D006554|ICD10:Q79.2|HP:0001537 Represents finding. HP:0001537 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class MESH:D006554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017637 biolink:NamedThing obsolete rare parkinsonian syndrome due to intoxication tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:306679|UMLS:CN203533 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/266600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389145006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015931 biolink:NamedThing obsolete rare urogenital tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0005070 Orphanet:182114|UMLS:CN200523 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:182114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8847002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718217000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012424 biolink:NamedThing obsolete heat-shock RNA 1 tmpak2llvmy_mondo_relaxed.owl heat-shock RNA 1|Hsr1|heat-shock RNA type 1 OMIM:610157 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/610157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39302008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128082002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723359002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46459009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62999006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2359002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93472004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:agro.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0080140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719471002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:133751000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subgenus biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN502749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33076008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_clinical_syndrome biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl clinical syndrome owl:AnnotationProperty https://omim.org/phenotypicSeries/PS305400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763772002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016347 biolink:NamedThing obsolete rare cardiac rhythm disease A rare form of cardiac rhythm disease. tmpak2llvmy_mondo_relaxed.owl rare cardiac rhythm disease MONDO:0007263 UMLS:CN201185|Orphanet:218436 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:10075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231824001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31027006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/235255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238714008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007464 biolink:NamedThing obsolete isolated distichiasis Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. tmpak2llvmy_mondo_relaxed.owl eyelashes, two rows of|distichiasis ICD10:Q10.3|OMIM:126300|ICD9:743.63|SCTID:95339000|Orphanet:99177 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class MEDDRA:10006045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0240164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0559185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN601375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011204 biolink:NamedThing obsolete cerebellar degeneration-related autoantigen 3 tmpak2llvmy_mondo_relaxed.owl Cdr3|cerebellar Degeneration-related autoantigen type 3|cerebellar degeneration-related autoantigen 3 OMIM:602197 This is not a disease. True https://github.com/monarch-initiative/mondo/issues/2522 owl:Class https://omim.org/entry/602197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/autoimmune.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79674009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717054001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4330009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:422519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020258 biolink:NamedThing obsolete oculomotor apraxia or related oculomotor disease tmpak2llvmy_mondo_relaxed.owl Orphanet:98688|UMLS:CN207073 HP:0000657 True https://github.com/monarch-initiative/mondo/issues/834 owl:Class UMLS:CN207073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018508 biolink:NamedThing obsolete rare carcinoma of small intestine Any of the forms of small intestine carcinoma that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare small intestine carcinoma|rare carcinoma of small bowel MONDO:0005522 Orphanet:423957 UMLS:C0238196 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:423957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372098004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763316006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN166718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719140001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:37962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/612446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/acute.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:393564001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:767130007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427617000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:po.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201060008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239064000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723496007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019744 biolink:NamedThing obsolete rare renal tubular disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:93603 UMLS:C0151747 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:93603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124668009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721187005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03000003 biolink:NamedThing obsolete: brown shrimp tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:1643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1593000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020027 biolink:NamedThing obsolete rare allergic disease Rare allergic hypersensitivity disease. tmpak2llvmy_mondo_relaxed.owl rare allergic disease|rare allergic hypersensitivity disease|rare allergy MONDO:0005271 Orphanet:98050|UMLS:CN206951 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715426004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#reference biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:0111138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764625002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000799 biolink:NamedThing obsolete crustacean allergy A allergic disease involving a crustacean food product. tmpak2llvmy_mondo_relaxed.owl allergy of crustacean food product|crustacean food product allergic disease MONDO:outOfScope DOID:0060524 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015147 biolink:NamedThing obsolete other syndrome with lissencephaly as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN197489|Orphanet:102010 Editor note: consider merging ICD10:Q04.3 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:C4273968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720747002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1835828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722054007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238107002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363140000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015652 biolink:NamedThing obsolete chromosomal anomaly with epilepsy as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:166469 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:23732000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/190330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84114007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subfamily biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68241007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015332 biolink:NamedThing obsolete rare developmental defect with connective tissue involvement tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:139030|UMLS:CN199362 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:139030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449817000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403992002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237603002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subclass biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275259005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721234004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018404 biolink:NamedThing obsolete rare genetic male infertility Rare genetic male infertility. tmpak2llvmy_mondo_relaxed.owl rare genetic male infertility MONDO:0005372 Orphanet:399980|UMLS:CN227349 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:399980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1852529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10046879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59068006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716788007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703523004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:15182000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204808002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020014 biolink:NamedThing obsolete rare disease with odontological manifestation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:98027|UMLS:CN206947 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class NCIT:C35688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:600009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764850002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20415001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703530005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7339009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C171269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448542008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733118006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58214004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C88412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763529005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707672001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95619009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1533060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018387 biolink:NamedThing obsolete rare male infertility due to adrenal disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:399584|UMLS:CN227335 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:420835009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D042882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13600006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31387002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232058008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:122377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/261900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:10629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0026896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:NCBITaxon#_species_group biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716766007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276533002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62501005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1561855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93031005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63565007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2694001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396198006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722296002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721779001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87211000119104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105997008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:536532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:14783006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3662487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312941005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009995 biolink:NamedThing obsolete rheumatic fever-related antigen tmpak2llvmy_mondo_relaxed.owl rheumatic fever-related antigen|rheumatic fever, acute, susceptibility to OMIM:268240 MONDO:0017767 True owl:Class https://omim.org/entry/268240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014425 biolink:NamedThing obsolete hereditary persistence of alpha-fetoprotein Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy tmpak2llvmy_mondo_relaxed.owl HPAFP|ALPHA-fetoprotein, hereditary persistence OF out of scope OMIM:615970|Orphanet:168615|SCTID:716697002 This is a biological anomaly and not a disease. True owl:Class https://github.com/monarch-initiative/mondo/issues/181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:331187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92788005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:125586008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002053 biolink:NamedThing obsolete hypoglycemic coma tmpak2llvmy_mondo_relaxed.owl HP:0001325 ICD10:E15|ICD9:251.0|SCTID:267384006|DOID:1607|UMLS:C0020617|HP:0001325 True owl:Class DOID:1607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78940002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253283000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0272217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717736007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013001 biolink:NamedThing obsolete synesthesia tmpak2llvmy_mondo_relaxed.owl synesthesia|Synsth MESH:C562460|OMIM:612759 This is not a disease, and may be obsoleted or moved to another hierarchy True https://github.com/monarch-initiative/mondo/issues/1688 owl:Class https://omim.org/entry/612759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN282826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709489006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448315008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722210007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/autosomal_recessive.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21848000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238902007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/lipoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0156370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363473003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719395001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#TraitNet biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0002171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000991 biolink:NamedThing obsolete left bundle branch block A bundle branch block in which the activation of the left ventricle is delayed. tmpak2llvmy_mondo_relaxed.owl left bundle branch hemiblock|left bundle branch [block] or [hemiblock] DOID:10272|SCTID:4973001|ICD10:I44.60|SCTID:63467002|UMLS:C0155702|ICD9:426.2 HP:0011713 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class IAO:0000423 biolink:NamedThing to be replaced with external ontology term Terms with this status should eventually replaced with a term from another ontology. tmpak2llvmy_mondo_relaxed.owl group:OBI to be replaced with external ontology term Alan Ruttenberg IAO:0000078 ORPHA:93405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72986009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127034005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65457005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS185800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35984006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22451001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239112008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254766004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446022000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49774006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720466001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725103004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715404000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722380003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018235 biolink:NamedThing obsolete dysostosis with limb anomaly as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:364568 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C1855175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C34411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C104003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4283007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:superfamily biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193570009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63479002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84757009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7111000119109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0546966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/adenocarcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/malignant.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Angiosperm biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:27837003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/meningioma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:kingdom biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126734005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302826002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722392003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024236 biolink:NamedThing obsolete degenerative disorder A disorder characterized by the progressive loss of function and/or structure of the affected tissues. tmpak2llvmy_mondo_relaxed.owl degenerative disease|degenerative disorder NCIT:C27090|ICD9:796.4|SCTID:362975008|UMLS:C1285162 The subclasses were not a disease but a feature or a process. True https://github.com/monarch-initiative/mondo/issues/528 owl:Class SNOMEDCT:362975008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044977 biolink:NamedThing obsolete disease of receptor activity tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C0043346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367475009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3502510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/squamous_cell_carcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS212750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:C564174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402425006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:ecocore.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423451008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427481004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:ubprop#_upper_level biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:140162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254731001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3289004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2721741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763317002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018038 biolink:NamedThing obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells tmpak2llvmy_mondo_relaxed.owl Orphanet:331232 True owl:Class ORPHA:324604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363194005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410049000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:6678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021199 biolink:NamedThing obsolete disease by anatomical system A disease that disrupts the functioning of an organ system. tmpak2llvmy_mondo_relaxed.owl disease of anatomical system|disorder of anatomical system|disease of anatomical entity|anatomical system disease out of scope UMLS:C1285159|SCTID:362965005|ICD9:796.4|DOID:7 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class DOID:7 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19598007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240613006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402877008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254771006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722377004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92697000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31367003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428054006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020149 biolink:NamedThing obsolete rare eye disease due to a differentiation anomaly tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207024|Orphanet:98558 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/223540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:37042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0014040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:147101000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10045181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015162 biolink:NamedThing obsolete rare syndromic intellectual disability Rare syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl rare syndromic intellectual disability MONDO:0000508 UMLS:CN226611|Orphanet:102369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0017663 biolink:NamedThing obsolete inherited tremor disorder tmpak2llvmy_mondo_relaxed.owl rare genetic myoclonus out of scope Orphanet:307064|Orphanet:307061|UMLS:CN227174|UMLS:CN227173 MONDO:0005395 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000119 biolink:NamedThing definition source Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007 tmpak2llvmy_mondo_relaxed.owl GROUP:OBI:|Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w definition source PERSON:Daniel Schober owl:AnnotationProperty IAO:0000122 biolink:NamedThing ready for release Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." tmpak2llvmy_mondo_relaxed.owl ready for release IAO:0000078 MEDDRA:10058097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81139004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51523009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2745996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018041 biolink:NamedThing obsolete other immunodeficiency syndrome with predominantly antibody defects tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN204282|Orphanet:331244 Editor note: consider merging ICD10:D80.8 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C1855474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234583001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126965008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:736606009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424091006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019110 biolink:NamedThing obsolete rare central nervous system or retinal vascular disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020676 Orphanet:71281|UMLS:CN205621 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN205621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724275005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0025190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:7016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399882002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8051000119105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713609000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015980 biolink:NamedThing obsolete rare genetic gynecological and obstetrical diseases tmpak2llvmy_mondo_relaxed.owl rare genetic female reproductive system disease MONDO:0002263 UMLS:CN200580|Orphanet:183731 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:6214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726609005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233843008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4556007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18417009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016082 biolink:NamedThing obsolete tracheo-esophageal fistula-hypospadias syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:2042|UMLS:CN226834|ICD10:Q87.8 Obsolete in Orphanet MONDO:0008586 True owl:Class https://omim.org/entry/231950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN073992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37702000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277589003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4525405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414521009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92246000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724039002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0311221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768553002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109998009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765434008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17741008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274944000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86133004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/environmental_stimulus.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015906 biolink:NamedThing obsolete rare disorder with hypergonadotropic hypogonadism tmpak2llvmy_mondo_relaxed.owl rare disorder with primary hypogonadism MONDO:0000001 UMLS:CN226785|Orphanet:181441 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C40241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698021005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702397002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254678009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20551005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36753006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70794004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24369008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92214000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238534006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1704323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278833002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717012004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72839009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7847004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020209 biolink:NamedThing obsolete rare hyperopia and astigmatism tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:98621|UMLS:CN227819 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:8197001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020035 biolink:NamedThing obsolete rare otorhinolaryngologic tumor tmpak2llvmy_mondo_relaxed.owl rare ORL tumor|rare ORL neoplasm|rare ORL cancer MONDO:outOfScope UMLS:CN206960|Orphanet:98061 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363454002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MEDDRA:10049416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609565001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C3280598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS244400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18910001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718216009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372063002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020031 biolink:NamedThing obsolete rare tumor Rare disease of cellular proliferation. tmpak2llvmy_mondo_relaxed.owl rare neoplasm|rare neoplasm (disease)|rare disease of cellular proliferation MONDO:0005070 Orphanet:98057 UMLS:C0375111 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/214290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018753 biolink:NamedThing obsolete rare disease with malignant hyperthermia tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:466658|UMLS:CN242072 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1515301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766888002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020015 biolink:NamedThing obsolete rare circulatory system disease A rare form of cardiovascular disease. tmpak2llvmy_mondo_relaxed.owl rare cardiovascular disease MONDO:0004995 UMLS:CN206948|Orphanet:98028 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1515288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/idiopathic.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255006004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0456483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4598005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018512 biolink:NamedThing obsolete rare epithelial tumor of colon Any of the forms of epithelial tumor of colon that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare epithelial tumor of colon MONDO:0024479 Orphanet:423991|UMLS:CN237517 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN237517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3665405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004626 biolink:NamedThing obsolete Hodgkin's paragranuloma tmpak2llvmy_mondo_relaxed.owl Hodgkin paragranuloma out of scope DOID:8642|NCIT:C26956 MONDO:0044778 True https://github.com/monarch-initiative/mondo/issues/3360 owl:Class NCIT:C26956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:92 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28119000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718097008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/sarcoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275481002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010582 biolink:NamedThing obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance tmpak2llvmy_mondo_relaxed.owl diabetes insipidus, neurohypophyseal type UMLS:CN074293|OMIM:304900 The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." True https://github.com/monarch-initiative/mondo/pull/1914 owl:Class https://omim.org/entry/304900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765135003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN800196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2985219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716090004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193396007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018719 biolink:NamedThing obsolete obsolete rare capillary malformation with associated anomalies tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope A grouping term that is probably not used clinically. MONDO:0016231|Orphanet:458830|UMLS:CN242066 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1727|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C3715128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:705155008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/171450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709105005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427972000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85866007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1475003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74460005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69614003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:155889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019038 biolink:NamedThing obsolete rare maxillo-facial surgical disease tmpak2llvmy_mondo_relaxed.owl rare maxillofacial anomaly MONDO:outOfScope UMLS:CN205523|Orphanet:68329 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:68329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41864002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:134335004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:535453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404051002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447330002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017753 biolink:NamedThing obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation tmpak2llvmy_mondo_relaxed.owl disorder of peroxisomal alpha-, beta- and omega-oxidation out of scope GARD:0012476|Orphanet:309810|UMLS:CN227198 MONDO:0019233|MONDO:0100277 True https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation|https://github.com/monarch-initiative/mondo/issues/3316 owl:Class MESH:C564539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254968009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68222009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10679007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234627009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0044710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:3352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277950001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718631006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:270492004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000348 biolink:NamedThing obsolete posterior polar cataract tmpak2llvmy_mondo_relaxed.owl cataract, posterior polar|obsolete posterior polar cataract (disease) obsolete posterior polar cataract (disease) HP:0001115 DOID:0050537 True owl:Class DOID:0050537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020227 biolink:NamedThing obsolete systemic disease with cataract tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:C0339369|Orphanet:98643 This is a grouping class that is considered out of scope. MONDO:0005129 True owl:Class UMLS:C0339369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721226005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS228550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1257809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:576379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718222000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN168921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722431007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:57196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Rice biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0175691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253000007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715748006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019749 biolink:NamedThing obsolete rare renal tumor Any of the forms of kidney neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare kidney neoplasm MONDO:0021163 Orphanet:93619 UMLS:C0022665 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1855986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:421246008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3276539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015114 biolink:NamedThing obsolete rare parenchymal liver disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 Orphanet:101939|UMLS:CN197471 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1333472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C63709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4530000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763829004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1876187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832353 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22064009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699649006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79745005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic_disrupts.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2355625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018413 biolink:NamedThing obsolete female infertility due to an anomaly of ovarian function of genetic origin tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:400022|UMLS:CN227356 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4478372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19168005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/575892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006315 biolink:NamedThing obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm tmpak2llvmy_mondo_relaxed.owl EFO:1000392|NCIT:C37005 Editor note: this represents a cell type in NCIT NCIT:C37005 True https://github.com/monarch-initiative/mondo/issues/2099 owl:Class NCIT:C37005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254794007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0559458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726358004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:315350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237547004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:536545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400022009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D021922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/206550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:9870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0405469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:1904168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C27744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763624007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16026008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192760003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D028921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019045 biolink:NamedThing obsolete rare sleep disorder A rare form of sleep disorder. tmpak2llvmy_mondo_relaxed.owl rare sleep disorder|rare sleep-wake disorder|rare sleep wake disorder MONDO:0003406 Orphanet:68354 MedDRA:10040984|MESH:D012893|UMLS:C0851578 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3150416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6121001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Poaceae biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:C565145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1710067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:infraorder biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235601001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186771002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77478005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404054005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69186005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239089006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267532001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197601003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C13184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90458007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109433009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719518004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92080005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:538096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240877000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400154003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76175005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85828009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23447005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35247001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719047001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363383000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763631006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015115 biolink:NamedThing obsolete rare genetic metabolic liver disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005066 Orphanet:101940|UMLS:C0851734 MedDRA:10019689 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10057846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://owlcollab.github.io/oboformat/doc/obo-syntax.html#6.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716593008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25044007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36948007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398796005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307406004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0476121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718716008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:102878001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002176 biolink:NamedThing obsolete connective tissue cancer A malignant neoplasm involving the connective tissue tmpak2llvmy_mondo_relaxed.owl connective tissue neoplasm|neoplasm of connective tissues|cancer of connective tissue|connective tissue cancer|malignant connective tissue neoplasm|malignant neoplasm of connective tissue DOID:201 Reason: grouping class. MONDO:0003900 True https://github.com/monarch-initiative/mondo/issues/3593 owl:Class NCIT:C150368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018598 biolink:NamedThing obsolete neonatal adrenoleukodystrophy Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). tmpak2llvmy_mondo_relaxed.owl NALD|adrenoleukodystrophy autosomal neonatal form out of scope UMLS:C0282525|GARD:0000559|ICD10:E71.3|Orphanet:44|ICD10:E71.511|SCTID:238061001|NCIT:C99251 MONDO:0019609 True https://github.com/monarch-initiative/mondo/issues/3222|https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy owl:Class MEDDRA:10025310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#other_hierarchy biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl A bin for classes that are likely not diseases and may be moved to a separate hierarchy owl:AnnotationProperty SNOMEDCT:51239001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0456863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718718009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS102300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016637 biolink:NamedThing obsolete thrombotic disorder due to an acquired platelet anomaly tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:248404|UMLS:CN226987 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C2007059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725390002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020012 biolink:NamedThing obsolete systemic or rheumatic disease tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://github.com/monarch-initiative/mondo/issues/3570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017657 biolink:NamedThing obsolete rare paroxysmal movement disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:306768|UMLS:CN227171 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0265438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:315058005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126859007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015511 biolink:NamedThing obsolete rare genetic urogenital disease tmpak2llvmy_mondo_relaxed.owl MONDO:0021145 UMLS:CN199644|Orphanet:156619 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C564806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015851 biolink:NamedThing obsolete rare breast malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:180163 UMLS:C0266008 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/192300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79607001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430079001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719456001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:316226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019041 biolink:NamedThing obsolete rare genetic inherited tumor tmpak2llvmy_mondo_relaxed.owl rare genetic tumor MONDO:0005070 UMLS:CN205525|Orphanet:68336 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1864815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:471383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0241828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN235466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:441452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0002459 biolink:NamedThing obsolete Dysautonomia tmpak2llvmy_mondo_relaxed.owl HP:0012332 True human_phenotype owl:Class DOID:0110359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49013001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51952004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720465002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726724005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011543 biolink:NamedThing obsolete BRCA3 tmpak2llvmy_mondo_relaxed.owl breast cancer 3|moved to 114480|BRCA3|Brcax UMLS:C1854365|OMIM:605365|MESH:C565336 See https://omim.org/entry/114480 MONDO:0016419 True https://github.com/monarch-initiative/mondo/issues/1700 owl:Class UMLS:C1854365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C134953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72945002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429735007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403194002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018722 biolink:NamedThing obsolete primary lymphedema with associated anomalies tmpak2llvmy_mondo_relaxed.owl Orphanet:458841 True owl:Class ORPHA:458841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0028742 biolink:NamedThing obsolete dysostosis with brachydactyly without extraskeletal manifestations tmpak2llvmy_mondo_relaxed.owl Orphanet:498451 True owl:Class MEDDRA:10054064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6141006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/isolated.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722390006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83883001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236806004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:iao.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238049009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53773002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57653000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60168000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/240500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47709007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS312080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020004 biolink:NamedThing obsolete rare eye disease Rare eye disease. tmpak2llvmy_mondo_relaxed.owl rare eye disease MONDO:0005328 Orphanet:97966|UMLS:CN206937 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126798006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021200 biolink:NamedThing obsolete rare disease Any of the forms of disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare disease|rare diseases|rare disease or disorder|rare disorder MONDO:0000001 MESH:D035583|NCIT:C4873 At this time we do not have a formal definition but this should correspond to ORDO classification of rare diseases UMLS:C0678236 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D035583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:472822008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18193002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016631 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired platelet anomaly A hemorrhagic disorder due to a platelet anomaly which develops after birth. tmpak2llvmy_mondo_relaxed.owl rare bleeding disorder due to an acquired platelet anomaly|rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly MONDO:outOfScope Orphanet:248347|UMLS:CN226981 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:238104009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95566004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015186 biolink:NamedThing obsolete rare tumor of intestine Rare intestinal neoplasm. tmpak2llvmy_mondo_relaxed.owl rare intestinal neoplasm|rare tumor of bowel|rare intestinal tumor MONDO:0021118 Orphanet:104011 UMLS:C0021841 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/602613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/inherited_susceptibility.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1457897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91441000119109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2829267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007149 biolink:NamedThing obsolete arbitrary restriction polymorphism 1 tmpak2llvmy_mondo_relaxed.owl anonymous restriction polymorphism 1|Rflp-14A|Arp-14A|restriction fragment length polymorphism 14A|arbitrary restriction polymorphism type 1|arbitrary restriction polymorphism 1 OMIM:107750|UMLS:C1862555 This is a gene/protein record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/107750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726402006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51771007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766992008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371189003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72925005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398726004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019491 biolink:NamedThing obsolete rare intellectual disability Rare intellectual disability. tmpak2llvmy_mondo_relaxed.owl rare intellectual disability MONDO:0001071 Orphanet:87277|UMLS:CN227638 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:87277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C12399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127232002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN034490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27173008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722290008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18389004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763834000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016274 biolink:NamedThing obsolete rare cancer of cervix uteri Rare cervical cancer. tmpak2llvmy_mondo_relaxed.owl rare cervical cancer|rare malignant tumor of cervix uteri|rare cervical malignant tumor MONDO:0002974 Orphanet:213761|UMLS:CN201063 UMLS:C0007847|UMLS:C0302592 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN776900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018799 biolink:NamedThing obsolete rare hypercholesterolemia Rare hypercholesterolemia. tmpak2llvmy_mondo_relaxed.owl rare hypercholesterolemia MONDO:0000001 Orphanet:477811|UMLS:CN776861 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4509879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722452004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:432328008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0110098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238044004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015184 biolink:NamedThing obsolete rare disease involving intestinal motility tmpak2llvmy_mondo_relaxed.owl rare genetic intestinal motility disease MONDO:0021189 UMLS:CN226620|Orphanet:104009 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C141423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255192005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:388604008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254782003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89182000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015970 biolink:NamedThing obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:183634|UMLS:CN200569 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D009383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359640008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C70649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302838006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233970002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129609000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020136 biolink:NamedThing obsolete neurodegenerative disease with dementia tmpak2llvmy_mondo_relaxed.owl Orphanet:98534|UMLS:CN207020 MONDO:0005559 True https://github.com/monarch-initiative/mondo/issues/1498 owl:Class ORPHA:98835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019602 biolink:NamedThing obsolete other inborn metabolic disease tmpak2llvmy_mondo_relaxed.owl other metabolic disease MONDO:outOfScope UMLS:CN206450|Orphanet:91088 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:221039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59455009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254626006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238719003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389168002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51053007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6971002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236302005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403986008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238706002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03000004 biolink:NamedThing obsolete: green mud crab tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0018530 biolink:NamedThing obsolete rare epithelial tumor of liver and intrahepatic biliary tract tmpak2llvmy_mondo_relaxed.owl rare epithelial tumor of liver and IBT MONDO:outOfScope Orphanet:424933|UMLS:CN237535 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D004405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/134750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65814009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13601005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4151000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:565782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/poisoning.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126769007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020613 biolink:NamedThing obsolete blood group--lke tmpak2llvmy_mondo_relaxed.owl Blood Group--Luke|BLOOD GROUP--LKE|LKE|Blood Group--Luke, Formerly OMIM:111130 True owl:Class https://omim.org/entry/111130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN225932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410502007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86997002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018798 biolink:NamedThing obsolete other genetic dermis disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN776936|Orphanet:477808 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C1335345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373673007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024505 biolink:NamedThing obsolete disorder by anatomical region A broad grouping of diseases based on major body subdivisions. tmpak2llvmy_mondo_relaxed.owl disorder by body site|disorder of anatomical|disease by body site|disease of organism subdivision|disorder of organism subdivision out of scope SCTID:123946008|UMLS:C1290853 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:123946008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4921002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN349871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372138000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:562639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44940001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016634 biolink:NamedThing obsolete thrombotic disorder due to an acquired coagulation factors defect An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. tmpak2llvmy_mondo_relaxed.owl acquired rare thrombotic disorder due to a coagulation factors defect MONDO:outOfScope UMLS:CN226984|Orphanet:248365 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1852454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0394005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1956391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044231 biolink:NamedThing obsolete eyebrow, whorl 1n tmpak2llvmy_mondo_relaxed.owl eyebrow, whorl in OMIM:133800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/133800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017652 biolink:NamedThing obsolete rare disease with myoclonus as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:306753|UMLS:CN203543 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:177904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1367536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000857 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 7 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. tmpak2llvmy_mondo_relaxed.owl DOID:0080069 True owl:Class https://omim.org/entry/269920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254153009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231528008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194281003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276729007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205681004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111565003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018721 biolink:NamedThing obsolete rare combined vascular malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN242069|Orphanet:458837 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C535633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722213009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/152400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D061686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015577 biolink:NamedThing obsolete rare parasitic disease Any of the forms of parasitic infection that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare parasitic infection|rare parasitic infectious disease MONDO:0005135 Orphanet:163588|UMLS:CN199940 UMLS:C0030499|UMLS:C0747256 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0090044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418818005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197442005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73371000119103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010804 biolink:NamedThing obsolete BRCATA tmpak2llvmy_mondo_relaxed.owl breast cancer, 11-22 translocation-associated|moved to 114480|BRCATA OMIM:600048 MONDO:0016419 True https://github.com/monarch-initiative/mondo/issues/1698 owl:Class https://omim.org/entry/600048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2985174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/240200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765753004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410801005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018651 biolink:NamedThing obsolete lipoyl transferase 2 deficiency tmpak2llvmy_mondo_relaxed.owl out of scope Orphanet:447795 This is a biological anomaly and not a disease. True owl:Class OBO:mondo#ordo_biological_anomaly biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl biological anomaly owl:AnnotationProperty https://omim.org/entry/615750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/206800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236385009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442696006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65846009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62647006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722105002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275336002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766705006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766044005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018288 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79291003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C163755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35030 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239891002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34960006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51995000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194119004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88157006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711483003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3203102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51886007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18526009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:247803002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ordo_clinical_situation biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl particular clinical situation in a disease or syndrome owl:AnnotationProperty https://omim.org/entry/608390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22754005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010086 biolink:NamedThing obsolete sudden infant death syndrome Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. tmpak2llvmy_mondo_relaxed.owl Crib death (context-dependent category)|cot death (context-dependent category)|crib death|sudden infant death syndrome (context-dependent category)|cot death|sudden infant death syndrome|Sids|sudden infant death syndrome (finding)|sudden death of nonspecific cause in infancy|sudden infant death syndrome NOS (context-dependent category)|SIDS UMLS:C0038644|GARD:0007711|OMIM:272120|EFO:0005303|SCTID:51178009|ICD10:R95|DOID:9007|NCIT:C85173|ICD9:798.0|MESH:D013398|MedDRA:10042439 This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. True https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome|https://github.com/monarch-initiative/mondo/issues/2759 owl:Class MEDDRA:10042439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725050005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:438476003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015888 biolink:NamedThing obsolete other rare diabetes mellitus tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226773|Orphanet:181381 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:181381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021198 biolink:NamedThing obsolete rare genetic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 Orphanet:98053|UMLS:CN206953 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/613179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312132001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0582885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43941006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763279007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C88413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03412846 biolink:NamedThing obsolete: bacteria tmpak2llvmy_mondo_relaxed.owl True http://langual.org owl:Class NCIT:C116816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0574084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371076006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255058005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70528007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50299009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33382000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235685007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766753005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C67383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6118003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044766 biolink:NamedThing obsolete Marfan Syndrome 3 tmpak2llvmy_mondo_relaxed.owl Marfan syndrome type 3|MFS 3 GTR:AN0100577|GTR:AN0100578|UMLS:CN035813 True owl:Class UMLS:CN035813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10026456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017001 biolink:NamedThing obsolete X chromosome number anomaly with male phenotype tmpak2llvmy_mondo_relaxed.owl Orphanet:263720 True owl:Class https://omim.org/entry/184200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715652002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47317002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721974000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33449004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS180860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10007009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725286002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66308002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699537002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9741000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230672006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:19 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59990008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34566007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719975002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0080024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/disease_series_by_gene_and_inheritance.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014554 biolink:NamedThing obsolete infantile multisystem neurologic-endocrine-pancreatic disease tmpak2llvmy_mondo_relaxed.owl term split MONDO:0024189 True owl:Class https://github.com/monarch-initiative/mondo/issues/3684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77507001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429998004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020188 biolink:NamedThing obsolete congenital absence of the eyebrow/eyelashes tmpak2llvmy_mondo_relaxed.owl Orphanet:98598 HP:0002223|HP:0000653 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class UMLS:C0153621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54184008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C166373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0852937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253879006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230374002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:422541001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718761007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722456001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67782005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254705003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0549160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018299 biolink:NamedThing obsolete sphingolipidosis with epilepsy tmpak2llvmy_mondo_relaxed.owl Orphanet:371442 True owl:Class UMLS:C1836120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409658007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020264 biolink:NamedThing obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98694 True owl:Class ORPHA:551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016768 biolink:NamedThing obsolete rare mucosal lichen planus tmpak2llvmy_mondo_relaxed.owl rare mucosal LP MONDO:outOfScope UMLS:CN226996|Orphanet:254373 ICD10:L43.9|ICD10:L43.8|ICD10:L43.3|ICD10:L43.0|ICD10:L43.2|ICD10:L43.1 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C538070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0597039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017120 biolink:NamedThing obsolete other syndrome with a central nervous system malformation as major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:269531|UMLS:CN202470 Editor note: consider deleting all 'other' terms True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN202470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3165062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698272007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003571 biolink:NamedThing obsolete labyrinthine dysfunction tmpak2llvmy_mondo_relaxed.owl ICD10:H83.2X9|ICD10:H83.2|ICD9:386.58|ICD10:H83.2X|SCTID:5239005|ICD9:386.5|UMLS:C0155514|ICD9:386.50|DOID:566 This is considered a phenotype, hence it was obsoleted. HP:0000359|MONDO:0002467 True https://github.com/monarch-initiative/mondo/issues/389 owl:Class SNOMEDCT:5239005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238059005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717336005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64233004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/x_linked.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711499009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93419003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C2939174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67406007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719380003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4445009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48718006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47306003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0566602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS221900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020005 biolink:NamedThing obsolete rare endocrine disease Rare endocrine system disease. tmpak2llvmy_mondo_relaxed.owl rare endocrine system disease MONDO:0005151 Orphanet:97978|UMLS:CN206938 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715491000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:530838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023072 biolink:NamedThing obsolete envenomization by Bothrops lanceolatus tmpak2llvmy_mondo_relaxed.owl Envenomization by the Martinique lancehead viper GARD:0002131|Orphanet:1939 True https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus owl:Class ORPHA:108987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007468 biolink:NamedThing obsolete DNA, satellite, alpha type tmpak2llvmy_mondo_relaxed.owl DNA, satellite, alpha type OMIM:126410 Not a disorder True https://github.com/monarch-initiative/mondo/issues/2287 owl:Class https://omim.org/entry/126410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367542003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015582 biolink:NamedThing obsolete rare disorder related with pregnancy, childbirth and puerperium Any of the forms of pregnancy disorder that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare pregnancy disorder MONDO:0024575 Orphanet:163637|UMLS:CN226708 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015910 biolink:NamedThing obsolete rare constitutional hemolytic anemia tmpak2llvmy_mondo_relaxed.owl rare genetic constitutional hemolytic anemia|rare familial constitutional hemolytic anemia MONDO:0003664 UMLS:CN226786|Orphanet:182043 Editor note: todo add disjointness axiom https://github.com/monarch-initiative/mondo/issues/133 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95662005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711329002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253018005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33882007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41040004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019059 biolink:NamedThing obsolete rare parkinsonian disorder Rare parkinsonian disorder. tmpak2llvmy_mondo_relaxed.owl rare parkinsonian disorder|rare hypokinetic movement disorder MONDO:0021095 Orphanet:68402 UMLS:C0242422 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:182076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3872695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763348005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15170009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/y_linked.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019348 biolink:NamedThing obsolete Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. tmpak2llvmy_mondo_relaxed.owl EDS with periventricular heterotopia Orphanet:82004|SCTID:720857006|UMLS:C4303790|ICD10:Q79.6 Obsolete in Orphanet MONDO:0020341 True owl:Class UMLS:C4303790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204431007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92211008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15250008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7678002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237895001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016363 biolink:NamedThing obsolete rare hereditary hemochromatosis Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease. tmpak2llvmy_mondo_relaxed.owl rare hereditary hemochromatosis|iron overload disease MONDO:0006507 SCTID:35400008|Orphanet:220489 NCIT:C84764|Orphanet:139498|UMLS:C0282193|ICD10:E83.1|UMLS:C0018995|ICD9:275.01 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0153589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32620007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024544 biolink:NamedThing obsolete Heimler syndrome 1 tmpak2llvmy_mondo_relaxed.owl hearing loss, sensorineural, with enamel hypoplasia and nail defects|HMLR1|peroxisome biogenesis disorder 1C|HEIMLER syndrome 1 out of scope DOID:0080623|OMIM:234580 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class DOID:0080623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015911 biolink:NamedThing obsolete rare acquired hemolytic anemia Hemolytic anemia, the cause of which is not present at birth. tmpak2llvmy_mondo_relaxed.owl Acquired hemolytic Anemia MONDO:0003664 Orphanet:182047|SCTID:4854004|NCIT:C34377 ICD10:D59.5|ICD10:D59.0|ICD10:D59.4|ICD10:D59.3|ICD10:D59.8|UMLS:C0002879|ICD10:D59.1|ICD10:D59.6|ICD10:D59.9|ICD10:D59.2 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267607008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78921008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718691008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020192 biolink:NamedThing obsolete rare lacrimal system disease Any of the forms of lacrimal apparatus disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare lacrimal apparatus disease MONDO:0001854 Orphanet:98602 UMLS:C0022904 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3150417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240783007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719404009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75968004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409711008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C167409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:718766002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C165451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0024419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61582004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230780007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1367420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363408006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN231410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766815007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719817002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732949006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126851005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020126 biolink:NamedThing obsolete rare peripheral neuropathy Rare peripheral neuropathy. tmpak2llvmy_mondo_relaxed.owl rare peripheral neuropathy MONDO:0005244 Orphanet:98496 UMLS:C0031117 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2750798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017665 biolink:NamedThing obsolete rare genetic disease with myoclonus as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:307067|UMLS:CN203550 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN203550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017669 biolink:NamedThing obsolete disease with diffuse palmoplantar keratoderma as a major feature tmpak2llvmy_mondo_relaxed.owl disease with diffuse palmoplantar hyperkeratosis as a major feature MONDO:outOfScope Orphanet:307711|UMLS:CN203554 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C538115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763533003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#speculative biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl A hypothesized disease whose existence is speculative owl:AnnotationProperty NCIT:C3720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015938 biolink:NamedThing obsolete systemic disease tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://github.com/monarch-initiative/mondo/issues/3596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0743332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:15 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007659 biolink:NamedThing obsolete giant platelet syndrome with thrombocytopenia tmpak2llvmy_mondo_relaxed.owl UMLS:C1842035|OMIM:137560|MESH:C564237 MONDO:0007954 True owl:Class MESH:C564237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722968003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1735591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011467 biolink:NamedThing obsolete human herpesvirus type 6, integrated tmpak2llvmy_mondo_relaxed.owl human herpesvirus type 6, integrated MESH:C565771|OMIM:604474|UMLS:C1858340 True owl:Class MESH:C565771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204312002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41137001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1609538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721837000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44018007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77692006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423708008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39273001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015887 biolink:NamedThing obsolete rare diabetes mellitus type 2 tmpak2llvmy_mondo_relaxed.owl rare insulin-independent diabetes mellitus MONDO:outOfScope Orphanet:181376 UMLS:C0011860 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C565304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015106 biolink:NamedThing obsolete rare urogenital disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 UMLS:CN197464|Orphanet:101433 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D015593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:420079008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111196000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/194320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449627008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75068001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:145831000119103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719840003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126973004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363416002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126947009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79886009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41114007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22607003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719660008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716249009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764097002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194373002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015972 biolink:NamedThing obsolete rare constitutional anemia A form of anemia (disease) that is both rare and inborn. tmpak2llvmy_mondo_relaxed.owl rare constitutional anemia (disease)|rare genetic anemia (disease)|rare inborn anemia (disease) MONDO:0002280 UMLS:CN226818|Orphanet:183651 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732961003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126719004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266148000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0920196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45281005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720980004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49362009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044975 biolink:NamedThing obsolete disease of transporter activity tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class https://omim.org/entry/135800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3502453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312956001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34037000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:562538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS119580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71253000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95695004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4054044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404014008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:352818000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254229006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020842 biolink:NamedThing obsolete medullary carcinoma Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ. tmpak2llvmy_mondo_relaxed.owl NCIT:C8998 MONDO:0015277|MONDO:0005063 True owl:Class NCIT:C8998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0748616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2829265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN757796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019096 biolink:NamedThing obsolete rare pulmonary hypertension Rare pulmonary hypertension. tmpak2llvmy_mondo_relaxed.owl rare pulmonary hypertension MONDO:0005149 Orphanet:71198|UMLS:CN227571 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/271640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373662000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C161542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76267008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46727001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C573722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363379000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699812002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0574080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414673004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022921 biolink:NamedThing obsolete short stature-microcephaly-heart defect syndrome tmpak2llvmy_mondo_relaxed.owl short stature microcephaly heart defect|d'ercole syndrome Orphanet:98464 GARD:0000233 Editor note: obsolete in ORDO yet not obsolete in main orphanet website [2018-01-09] True owl:Class https://omim.org/entry/617988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019684 biolink:NamedThing obsolete rare bone disease Rare bone disease. tmpak2llvmy_mondo_relaxed.owl rare bone disease MONDO:0005381 Orphanet:93419|UMLS:CN206613 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:1425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:331232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4089001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000911 biolink:NamedThing obsolete dilated cardiomyopathy 1T Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. tmpak2llvmy_mondo_relaxed.owl dilated cardiomyopathy type 1T|TMPO familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, 1T|moved to 115200|cardiomyopathy, dilated, type 1T|CMD1T MESH:C566052|UMLS:C3151039|OMIM:613740|DOID:0110452 OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists. True https://github.com/monarch-initiative/mondo/issues/1675 owl:Class MESH:C566052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46090001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92468007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765489006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373905003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234554004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359717002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-9897-3238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38394007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015108 biolink:NamedThing obsolete rare non-syndromic intellectual disability Rare non-syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl rare non-syndromic intellectual deficiency|rare NSID|rare intellectual disability without developmental anomaly|rare non-syndromic intellectual disability MONDO:0000509 Orphanet:101685|UMLS:CN226598|GARD:0012633 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90241004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17322007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724070005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015981 biolink:NamedThing obsolete inherited gynecological tumor tmpak2llvmy_mondo_relaxed.owl rare genetic female reproductive system tumor|genetic gynecological tumor UMLS:CN200581|Orphanet:183734 True owl:Class UMLS:CN200581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35546006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015602 biolink:NamedThing obsolete developmental delay-deafness syndrome, Hildebrand type tmpak2llvmy_mondo_relaxed.owl UMLS:CN199975|Orphanet:163988 Obsolete in Orphanet MONDO:0010558 True owl:Class UMLS:CN199975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62192003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN544763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404089007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38403006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702449004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45816000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254088006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016124 biolink:NamedThing obsolete drug and/or toxic myopathy tmpak2llvmy_mondo_relaxed.owl Orphanet:206985 Obsolete in Orphanet MONDO:0016105 True owl:Class ORPHA:206985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015893 biolink:NamedThing obsolete rare hypothyroidism Any of the forms of hypothyroidism that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare hypothyroidism MONDO:0005420 Orphanet:181396 UMLS:C0020676 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1519859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/refractory.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:72 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1261567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:487825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018520 biolink:NamedThing obsolete rare epithelial tumor of pancreas tmpak2llvmy_mondo_relaxed.owl rare pancreatic epithelial tumor MONDO:outOfScope UMLS:CN237523|Orphanet:424033 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN237523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371979001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277466009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75006000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0002-2825-0621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88393000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64559002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429753001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307592006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79619009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015940 biolink:NamedThing obsolete rare rheumatologic disease Any of the forms of rheumatologic disorder that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare rheumatological disease|rare rheumatologic disorder MONDO:0005554 UMLS:CN200530|Orphanet:182231 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:2170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1283400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30069002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268163008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:401315004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189017000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733096007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS179850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402919000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399463004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238826008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS179010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044279 biolink:NamedThing obsolete bone mineral density quantitative trait locus 15 tmpak2llvmy_mondo_relaxed.owl compression fracture, susceptibility to|osteoporosis, susceptibility to|bone mineral density quantitative trait locus 15|BMND15|metaphyseal fracture, susceptibility to OMIM:613418 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/613418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS221770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230310003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397734008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001872 biolink:NamedThing obsolete vestibular nystagmus tmpak2llvmy_mondo_relaxed.owl obsolete vestibular nystagmus (disease)|Nystagmus associated with disorder of the vestibular system|vestibular nystagmus obsolete vestibular nystagmus (disease) HP:0010542 SCTID:46888001|ICD9:379.54|UMLS:C0155379|DOID:14070 True owl:Class UMLS:C0155379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400059005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128127008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12371008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72621003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C138171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75934005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019043 biolink:NamedThing obsolete rare genetic skin disease tmpak2llvmy_mondo_relaxed.owl rare genodermatosis MONDO:0005093 Orphanet:68346 UMLS:C0037277 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30250000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63951004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719408007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS212066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2108396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237939006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720570007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/small_cell_carcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724385009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015913 biolink:NamedThing obsolete rare thrombotic disease of hematologic origin tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:182054|UMLS:CN200513 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764463001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D043204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410041002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0559459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230228004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2168304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197718007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66189004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32361000119104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010045 biolink:NamedThing obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. tmpak2llvmy_mondo_relaxed.owl Fitzsimmons syndrome|spastic paraplegia associated with brachydactyly type E|Fitzsimmons-Guilbert syndrome|FITZSIMMONS-Guilbert syndrome|moved to 270550, 190350, and 616944 OMIM:270710|GARD:0002343|ICD10:G82.1|MESH:C537938|Orphanet:2823|UMLS:C0795942 Obsolete in OMIM and Orphanet. MONDO:0008596|MONDO:0014842|MONDO:0010041 True https://github.com/monarch-initiative/mondo/issues/1686 owl:Class MESH:C537938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16934004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716662004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192761004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019097 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional platelet anomaly A hemorrhagic disorder due to a platelet anomaly which occurs from birth. tmpak2llvmy_mondo_relaxed.owl rare coagulopathy due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia MONDO:outOfScope Orphanet:71202|UMLS:CN227572 ICD10:D69.1 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:55342001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS258315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS101800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81996005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52585001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/270450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398254007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2736005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312216007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1883485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191507002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763405000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254179000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83223005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195042002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703335004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92087008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#merged_class biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl this class merges distinct concepts in other resources owl:AnnotationProperty MESH:C567240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190634004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:244242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187722004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1510471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018729 biolink:NamedThing obsolete genetic vascular tumor An instance of rare vascular tumor that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic rare vascular tumor|rare genetic vascular tumor out of scope UMLS:CN242080|Orphanet:459543 MONDO:0024296 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4304667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194339007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59229005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C110940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018405 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl rare male infertility due to gonadotropic axis disorder of genetic origin|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:outOfScope Orphanet:399983|UMLS:CN227350 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:399983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732926009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1138434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/leiomyosarcoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2981141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67569000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238050009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subphylum biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS166780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:caro.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231828003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001362 biolink:NamedThing obsolete leukocoria An abnormal white reflection from the retina of the eye. tmpak2llvmy_mondo_relaxed.owl HP:0000555 ICD9:360.44|ICD10:H44.53|UMLS:C0152458|SCTID:1361009|DOID:11772 Obsoleted as it represents a feature/finding True owl:Class https://omim.org/entry/308850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:156370009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80902009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127039000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111197009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278046008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C137959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715923003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25690000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723584003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6011000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61462000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3178970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26029002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39788007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400115004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017644 biolink:NamedThing obsolete rare tremor disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0005395 UMLS:CN227168|Orphanet:306712 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C565673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237444008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020999 biolink:NamedThing obsolete genetic chronic primary adrenal insufficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:101960 True owl:Class UMLS:C1842884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:2648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92568009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25906001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3839265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46085004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277530005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254815002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36785009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021196 biolink:NamedThing obsolete disease by molecular activity disrupted tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class OBO:mondo#metaclass biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl A grouping of disease classes. Should be excluded from analysis owl:AnnotationProperty DOID:11315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4017171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS209900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018497 biolink:NamedThing obsolete rare autonomic nervous system disorder Rare autonomic nervous system disease. tmpak2llvmy_mondo_relaxed.owl rare autonomic nervous system disease MONDO:0001292 Orphanet:423662 UMLS:C1145628 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0085308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72366004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197660000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:314429009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17300000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707796002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015119 biolink:NamedThing obsolete bronchopulmonary tumor tmpak2llvmy_mondo_relaxed.owl rare bronchopulmonary tumor out of scope Orphanet:101945|UMLS:CN197476 MONDO:0020641 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0280330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006674 biolink:NamedThing obsolete benign fibrous mesothelioma A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. tmpak2llvmy_mondo_relaxed.owl solitary fibrous tumor, pleural|fibrous mesothelioma, benign (morphologic abnormality)|localized benign fibrous mesothelioma|fibrous mesothelioma, benign out of scope UMLS:C0334511|DOID:2653|MESH:D054363 From NCIT: Fibrous mesothelioma (benign) is a terribly antiquated term. Even decades ago when it was reported, it was not described as being associated with neoplastic mesothelial cell proliferation. MONDO:0021041 True https://github.com/monarch-initiative/mondo/issues/3701 owl:Class DOID:2653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763408003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763717004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43935004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:227796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61003004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24817009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707379000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30967002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/152450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020034 biolink:NamedThing obsolete rare respiratory tract neoplasm Any of the forms of respiratory tract neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare respiratory cancer|rare respiratory tract neoplasm|rare respiratory tumor|rare respiratory neoplasm MONDO:0020641 Orphanet:98060|UMLS:CN206959 UMLS:C0154131|UMLS:C0035244 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/606367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718211004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707355002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:263225007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92486005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234619000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49455004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1332193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:998008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28724005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764990003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76880004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39450006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419671004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765330003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699866005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720410001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128540005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230558006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D049950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400954002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11389007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0401151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387637008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS102200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2689001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197585004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18273004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020260 biolink:NamedThing obsolete myasthenic syndrome with eye involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:98690|UMLS:CN207074 See https://github.com/Orphanet/ORDO/issues/17 True owl:Class UMLS:CN207074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019061 biolink:NamedThing obsolete rare parathyroid disease and phosphocalcic metabolism anomaly tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205542|Orphanet:68415 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0023663 biolink:NamedThing obsolete macrocephaly mesodermal hamartoma spectrum tmpak2llvmy_mondo_relaxed.owl partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly|Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly MONDO:0008318 MESH:C537716|UMLS:C1867610|GARD:0000170 Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920 True https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum owl:Class UMLS:C1867610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715803003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C103330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0021217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C3342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13151001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717269008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417563003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015896 biolink:NamedThing obsolete rare hypoparathyroidism Rare hypoparathyroidism. tmpak2llvmy_mondo_relaxed.owl rare hypoparathyroidism MONDO:0001220 Orphanet:181405 ICD10:E20.0|ICD10:E20.1|UMLS:C0020626|ICD10:E20.9|ICD10:E20.8 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:763821001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399314004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016254 biolink:NamedThing obsolete rare variants of adenocarcinoma of the corpus uteri tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:CN201043|ICD10:C54.1|Orphanet:213574 MONDO:0003629 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN201043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:298285004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4050064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764958008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:316244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019750 biolink:NamedThing obsolete rare renal disease Any of the forms of urinary system disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare kidney disease|rare urinary system disease MONDO:0005240 Orphanet:93626|UMLS:CN206681 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/609033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/hemangioma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719266007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:40923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111232005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715528001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190773008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:NCBITaxon#_species_subgroup biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1706827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58258004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1112577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2932717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238875009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:28378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001445 biolink:NamedThing obsolete neurogenic bladder Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). tmpak2llvmy_mondo_relaxed.owl neurogenic urinary bladder disorder|neurogenic dysfunction of the urinary bladder|obsolete neurogenic bladder (disease)|neurogenic bladder|neuropathic bladder obsolete neurogenic bladder (disease) MESH:D001750|ICD9:596.54|HP:0000011|SCTID:398064005|UMLS:C0005697|DOID:12143 HP:0000011 True https://github.com/monarch-initiative/mondo/issues/974 owl:Class DOID:12143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72052003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1956093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:superorder biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl N8e359afb50124376895fc0ba1b8d4a5a biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312214005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:598363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418763003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81077008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:D060426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703284009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C34513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402413008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN653906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62522004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3755001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4023011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3890733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1960398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:45452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254950006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015847 biolink:NamedThing obsolete rare vaginal malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:180151|UMLS:CN226752 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/603671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763376002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726613003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274718005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:478029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0375200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:555407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:61172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:129104009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C14158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68210006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274096000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720520009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46963008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404040002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/rhabdomyosarcoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238832003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765091006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0175697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020097 biolink:NamedThing obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. tmpak2llvmy_mondo_relaxed.owl autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal recessive MONDO:outOfScope UMLS:CN207000|Orphanet:98357 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class DOID:12894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43363007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254976006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1384416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92466006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76682005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723450004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44509000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74100001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13920009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66071002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2745997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66521008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763796007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447351004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715530004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016212 biolink:NamedThing obsolete cyclosporosis tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0005725 True https://github.com/monarch-initiative/mondo/issues/3694 owl:Class DOID:0080508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN030519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017632 biolink:NamedThing obsolete rare tumor of liver and intrahepatic biliary tract Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare tumor of liver and IBT|rare liver and intrahepatic bile duct neoplasm MONDO:0024477 Orphanet:306636 UMLS:C0023903 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017378 biolink:NamedThing obsolete polymicrogyria-turricephaly-hypogenitalism syndrome tmpak2llvmy_mondo_relaxed.owl UMLS:CN227120|Orphanet:2925|ICD10:Q87.8 Obsolete in Orphanet MONDO:0000087 True owl:Class ORPHA:2925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53974002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255004001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C93046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90678009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009753 biolink:NamedThing obsolete neurovisceral storage disease with Curvilinear bodies tmpak2llvmy_mondo_relaxed.owl neurovisceral storage disease with Curvilinear bodies UMLS:C1850382|MESH:C564944|OMIM:257000 True https://github.com/monarch-initiative/hpo-annotation-data/issues/260 owl:Class UMLS:C1851502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702313004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722439009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:38874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3469605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS276300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0812378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363346000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447883002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:D010378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423627007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:206292002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404109006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716007007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702357000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238935002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91953003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723408004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1997740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3696898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764690001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002891 biolink:NamedThing obsolete gastrointestinal neuroendocrine benign tumor tmpak2llvmy_mondo_relaxed.owl DOID:4148 Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT True owl:Class DOID:4148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:394529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0087012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:508093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN187045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718771009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008674 biolink:NamedThing obsolete WHIM syndrome tmpak2llvmy_mondo_relaxed.owl term split MONDO:0023880 True owl:Class ORPHA:325511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236392004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C65192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18504008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/consequence_of_infectious_disease.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92058007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015959 biolink:NamedThing obsolete inherited syndrome with bone tumors as a major feature tmpak2llvmy_mondo_relaxed.owl genetic bone tumor MONDO:0005070 UMLS:CN200554|Orphanet:183527 This class was seeded from the ORDO genetic bone tumor class. We have renamed as this reflects the intent. See discussion here: https://github.com/Orphanet/ORDO/issues/13 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:13593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1264008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400054000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/263600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015937 biolink:NamedThing obsolete rare inflammatory eye disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200527|Orphanet:182214 UMLS:C0014236 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C2930947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:superclass biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78200003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6655004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403835002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609618002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:202940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93469006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766761000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723306004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:392300000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:445038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707436001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61599003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61094002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:737581000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10743008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419494007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020026 biolink:NamedThing obsolete rare female infertility Rare female infertility. tmpak2llvmy_mondo_relaxed.owl rare female infertility MONDO:0021124 Orphanet:98049|UMLS:CN227737 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:60002000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002144 biolink:NamedThing obsolete hyperuricemia tmpak2llvmy_mondo_relaxed.owl blood urate raized|obsolete hyperuricemia (disease)|hyperuricemia|uricacidemia obsolete hyperuricemia (disease) HP:0002149 DOID:1920|MESH:D033461|SCTID:35885006|EFO:0009104|UMLS:C0740394|ICD9:790.6 True owl:Class SNOMEDCT:35885006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3163678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49386006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95656000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015897 biolink:NamedThing obsolete rare hyperparathyroidism Rare hyperparathyroidism. tmpak2llvmy_mondo_relaxed.owl rare hyperparathyroidism MONDO:0001741 Orphanet:181408 ICD10:E21.2|ICD10:E21.3|UMLS:C0020502|ICD10:E21.1|ICD10:E21.0 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193410003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3463897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72922008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254646001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN068444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69163003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118618005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007506 biolink:NamedThing obsoleted echo virus 11 sensitivity tmpak2llvmy_mondo_relaxed.owl echo virus 11 sensitivity|E11S MESH:C565071|UMLS:C1851888|OMIM:129150 MONDO:0005740 True owl:Class https://omim.org/entry/129150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:uberon.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74653006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0546835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017130 biolink:NamedThing obsolete genetic urogenital tumor tmpak2llvmy_mondo_relaxed.owl Orphanet:271844 True owl:Class UMLS:C1859598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230724001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN716584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404162004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720813007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:71787009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359673001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230191005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715391004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95202004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723163000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C33645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763275001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D036821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236530006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37548006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715140008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018396 biolink:NamedThing obsolete rare male fertility disorder with obstructive azoospermia tmpak2llvmy_mondo_relaxed.owl rare disorder with obstructive azoospermia|rare disorder due to impaired sperm transport MONDO:outOfScope UMLS:CN227342|Orphanet:399824 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0011378 biolink:NamedThing obsolete CFM1 tmpak2llvmy_mondo_relaxed.owl cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1 OMIM:603855 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1861 owl:Class https://omim.org/entry/603855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:589905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015226 biolink:NamedThing obsolete syndrome with limb malformations as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:109009|UMLS:CN197565 ICD10:Q87.2 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C0685121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719017003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020185 biolink:NamedThing obsolete eyebrow/eyelashes hypertrichosis tmpak2llvmy_mondo_relaxed.owl ICD10:L68.2|Orphanet:98595 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:98595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715632003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008761 biolink:NamedThing obsolete alpha-2-deficient collagen disease tmpak2llvmy_mondo_relaxed.owl Meigel disease|alpha-2-deficient collagen disease MESH:C565963|GARD:0003454|UMLS:C1859850|OMIM:203760|GARD:0000616 This term was retired in GARD because was based in a single report in 1979 about a boy who could have another diagnosis. True https://github.com/monarch-initiative/mondo/issues/1594 owl:Class UMLS:C1859850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715755008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44086001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17869006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17541006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0043881 biolink:NamedThing obsolete acute eosinophilic leukemia A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) tmpak2llvmy_mondo_relaxed.owl eosinophilic leukemia, acute|acute eosinophilic leukemias|eosinophilic leukemias, acute|leukemias, acute eosinophilic|acute eosinophilic leukemia|leukemia, acute eosinophilic NCIT:C26813|MESH:D015472|EFO:1001888|UMLS:C0023439|SCTID:277604002 True owl:Class UMLS:C0023439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0175693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18978002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126693009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70476006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733115009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237268002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230282000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Citrus biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/616784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:735907005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31978002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/535000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118930001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267592003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21328003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35484002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0574089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41841004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018377 biolink:NamedThing obsolete rare hereditary disease with avascular necrosis tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:399185|UMLS:CN205038 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:3268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85638002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:104831000119109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239869009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9014002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230380005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56294008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399903008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C50799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63702009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419455006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765136002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:1900393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class GO:1900400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015899 biolink:NamedThing obsolete rare primary hyperaldosteronism Any of the forms of primary aldosteronism that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare Conn syndrome|rare Conn's syndrome|rare primary aldosteronism MONDO:0001422 Orphanet:181415 UMLS:C1384514|ICD10:E26.0 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/277410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274102007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D026681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3493776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403900000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363508008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015549 biolink:NamedThing obsolete rare genetic hematologic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005570 Orphanet:158300|UMLS:CN199710 Reason for obsoletion: we want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/1748|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:363475005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725047007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724356003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007021 biolink:NamedThing obsolete wheat allergic disease Allergic reaction to wheat that is triggered by the immune system. tmpak2llvmy_mondo_relaxed.owl wheat based food product allergic disease|allergic disease from wheat based food product|allergy to wheat|wheat allergic reaction|wheat allergy|allergy of wheat based food product MONDO:outOfScope DOID:3660|MESH:D021182|EFO:1001243|SCTID:420174000|UMLS:C0949570 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:3660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27031003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3180937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020009 biolink:NamedThing obsolete rare neurologic disease Rare nervous system disease. tmpak2llvmy_mondo_relaxed.owl rare nervous system disorder|rare nervous system disease MONDO:0005071 Orphanet:98006|UMLS:CN206943 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91521000119104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:444316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:229703009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254883003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000011.10 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126696001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17465007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016645 biolink:NamedThing obsolete rare neoplastic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0023370 Orphanet:250908|UMLS:CN201870 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3542026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254788004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3899657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0685115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:173300003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47382004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58459009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722343009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193844000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238085009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005196 biolink:NamedThing obsolete teratozoospermia Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends tmpak2llvmy_mondo_relaxed.owl EFO:0002625|MP:0005578|SCTID:236817003|UMLS:C0403824 This is a finding. HP:0012864 True https://github.com/monarch-initiative/mondo/issues/1786 owl:Class SNOMEDCT:236817003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020234 biolink:NamedThing obsolete craniofacial anomaly with cataract tmpak2llvmy_mondo_relaxed.owl Orphanet:98650 True owl:Class UMLS:C1834532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3873401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21984008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D042101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61700007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33528003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126804008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724137002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403910009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69278003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70211005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4317112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67988000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:529980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:28 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1264040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17406005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C156954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C3201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238905009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720940008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020152 biolink:NamedThing obsolete rare eyelid malformation tmpak2llvmy_mondo_relaxed.owl eyelid malformation MONDO:outOfScope Orphanet:98561 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:98561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007641 biolink:NamedThing obsolete Futcher line tmpak2llvmy_mondo_relaxed.owl Voigt lines|pigmentary demarcation lines|Futcher line OMIM:137000 This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated. True https://github.com/monarch-initiative/mondo/issues/2148 owl:Class https://omim.org/entry/137000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:386766007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1569637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020223 biolink:NamedThing obsolete lens and zonula anomaly tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:98639 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/610357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019997 biolink:NamedThing obsolete rare gastroenterologic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 UMLS:CN206933|Orphanet:97935 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/phenotypicSeries/PS210900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/171300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718052004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230373008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95641009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2243090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0301928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000161 biolink:NamedThing obsolete adrenal hyperplasia tmpak2llvmy_mondo_relaxed.owl obsolete adrenal hyperplasia (disease) obsolete adrenal hyperplasia (disease) UMLS:C1621895 True owl:Class UMLS:C1621895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000678.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88220006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:308879003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126491004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36803009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702381007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1854002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240820001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1847009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5888003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63127008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015117 biolink:NamedThing obsolete rare hepatic and biliary tract tumor Any of the forms of hepatobiliary neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare hepatobiliary neoplasm MONDO:0002514 UMLS:CN197474|Orphanet:101943 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4310701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13534001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053240 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699311001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719268008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044237 biolink:NamedThing obsolete hypercholesterolemia suppressor tmpak2llvmy_mondo_relaxed.owl hypercholesterolemia suppressor OMIM:144020 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/144020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403825008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404808000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:167848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C135090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:255182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023807 biolink:NamedThing obsolete midphalangeal hair tmpak2llvmy_mondo_relaxed.owl Middigital hair|midphalangeal hair MESH:C537471|GARD:0009992|OMIM:157200 True owl:Class DOID:10587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:310050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50442003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:218439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/614324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:281562007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702318008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1960539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715734006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235602008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11772001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166295 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0496859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32891000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34349009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417607009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16814004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444755001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75979009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:712525007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46177005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703219008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126634001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85995004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423294001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722106001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018386 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder tmpak2llvmy_mondo_relaxed.owl rare male infertility due to hypothalamic-pituitary-testicular axis disorder|rare male infertility due to gonadotropic axis disorder MONDO:outOfScope UMLS:CN227334|Orphanet:399572 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4274732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92068002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:241006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721711009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1844501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:301317008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9009001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39905002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015982 biolink:NamedThing obsolete rare genetic intellectual disability Rare genetic intellectual disability. tmpak2llvmy_mondo_relaxed.owl rare genetic intellectual disability MONDO:0001071 Orphanet:183757|UMLS:CN226821 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0005741 biolink:NamedThing obsolete egg allergy Allergic reaction to eggs that is triggered by the immune system. tmpak2llvmy_mondo_relaxed.owl allergy of egg|allergy to eggs|egg allergic disease MONDO:outOfScope MESH:D021181|ICD9:V15.03|UMLS:C0559469|EFO:0007248|DOID:4377|SCTID:91930004 SCTID:157802003|SCTID:213019003 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class SNOMEDCT:91930004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044233 biolink:NamedThing obsolete hair whorl tmpak2llvmy_mondo_relaxed.owl Double hair whorl|Cowlick|hair whorl OMIM:139400 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732264002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:202882003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46699001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3160736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716998009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55379003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81817003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0159006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0472777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61565001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717048002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6807001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722111004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717011006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719815005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C12787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/303900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017133 biolink:NamedThing obsolete genetic systemic or rheumatologic disease tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class DOID:9577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235729009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1956097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230264003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0232867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715826005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1382026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235796008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020029 biolink:NamedThing obsolete rare genetic cardiac disease Rare genetic heart disease. tmpak2llvmy_mondo_relaxed.owl rare genetic heart disease MONDO:0005267 UMLS:CN206954|Orphanet:98054 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:188664008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733471003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428700003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201048007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716198008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254654004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76160002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194437008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008331 biolink:NamedThing obsolete pseudopapilledema Apparent optic disc swelling in the absence of increased intracranial pressure. tmpak2llvmy_mondo_relaxed.owl crowded optic disc|pseudopapilledema|obsolete pseudopapilledema (disease) obsolete pseudopapilledema (disease) DOID:1392|UMLS:C0155300|MESH:C562401|ICD9:377.24|Orphanet:519339|SCTID:57138009|OMIM:177800 This is a phenotypic feature and belongs in HPO. HP:0000538 True https://github.com/monarch-initiative/mondo/issues/381 owl:Class https://omim.org/entry/177800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721975004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23853001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711409002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23615008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS168000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766765009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87343002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126792007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724015007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720493003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018728 biolink:NamedThing obsolete rare genetic capillary malformation tmpak2llvmy_mondo_relaxed.owl MONDO:0016231 UMLS:CN242077|Orphanet:459526 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0015231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0585216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398064005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204152008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397428000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359714009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21070001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126802007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33595009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52994003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197432008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715707008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28882002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363456000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015957 biolink:NamedThing obsolete rare genetic movement disorder Rare genetic movement disorder. tmpak2llvmy_mondo_relaxed.owl rare genetic movement disorder MONDO:0005395 Orphanet:183521|UMLS:CN226803 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1868390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715645004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720977000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73237007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715522000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715318006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25981000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016632 biolink:NamedThing obsolete thrombotic disorder due to a coagulation factors defect tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:CN226982|Orphanet:248358 MONDO:0000831 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C153289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/adenosquamous_carcinoma.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278453007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:580940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015894 biolink:NamedThing obsolete rare hyperthyroidism Any of the forms of hyperthyroidism that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare hyperthyroidism MONDO:0004425 Orphanet:181399 ICD10:E05.1|ICD10:E05.3|ICD10:E05.4|ICD10:E05.5|UMLS:C0020550|ICD10:E05.8|ICD10:E05.9|ICD10:E05.0|ICD10:E05.2 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:435938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718553004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719069008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D033461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000037 biolink:NamedThing obsolete herpes simplex encephalitis, susceptibility tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1333876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000801 biolink:NamedThing obsolete green mud crab allergy A allergic disease involving a green mud crab. tmpak2llvmy_mondo_relaxed.owl Scylla paramamosain allergy|green mud crab allergic disease|crab allergy|allergy of green mud crab MONDO:outOfScope DOID:0060526 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187777008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/124400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721712002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363411007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1527304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2746066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36102002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230407006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004632 biolink:NamedThing obsolete Hodgkin's granuloma An obsolete term referring to Hodgkin lymphoma. tmpak2llvmy_mondo_relaxed.owl Hodgkin granuloma|Hodgkin's granuloma of unspecified site|Hodgkin's granuloma|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites MONDO:0004952 ICD10:C81|ICD9:201.2|ICD10:C81.2|ICD9:201.1|ICD10:C81.4|ICDO:9661/3|ICD9:201.7|SCTID:118602004|ICD10:C81.3|ICD10:C81.0|ICD9:201|ICD9:201.0|ICD10:C81.9|DOID:8651|ICD9:201.4|ICD9:201.9|NCIT:C6914|ICD9:201.6 True owl:Class DOID:8651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39021009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4040907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233733000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016320 biolink:NamedThing obsolete rare hereditary thrombophilia tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:217454|UMLS:C2584620 ICD10:D68.5 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D056734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67247008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13048006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000669.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2960452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15945005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766978002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253149002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3698315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015513 biolink:NamedThing obsolete rare genetic endocrine disease A form of endocrine system disease that is both rare and inborn. tmpak2llvmy_mondo_relaxed.owl rare genetic endocrine system disease MONDO:0005151 Orphanet:156638|UMLS:CN199645 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3468005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018539 biolink:NamedThing obsolete rare epithelial tumor of small intestine tmpak2llvmy_mondo_relaxed.owl rare epithelial tumor of small bowel MONDO:outOfScope Orphanet:425368|UMLS:CN237541 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:425368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:418951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29271008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205548006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:282196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C161005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018295 biolink:NamedThing obsolete congenital disorder of glycosylation with deafness as a major feature tmpak2llvmy_mondo_relaxed.owl CDG with deafness as a major feature MONDO:outOfScope Orphanet:371212 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C565080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75570004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020871 biolink:NamedThing obsolete name syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015285 Orphanet:623 True owl:Class ORPHA:623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN552491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C172705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56692003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024996 biolink:NamedThing obsolete Usher syndrome, type 2b tmpak2llvmy_mondo_relaxed.owl USH2B|US2B MONDO:0011558 GARD:0005441 True owl:Class https://omim.org/entry/102730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1171349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4072872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719158007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194349005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:495930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007678 biolink:NamedThing obsolete glycoprotein, renal tmpak2llvmy_mondo_relaxed.owl glycoprotein, renal OMIM:138710 This is an electrophetic finding and not a disease. True https://github.com/monarch-initiative/mondo/issues/2245 owl:Class https://omim.org/entry/138710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127217009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84619001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18140003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702355008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764940002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726029005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83405000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73465006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87040007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71590000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711163009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4317224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:hp.obo#secondary_consequence biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0005747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/547314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733111000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:250978003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:241774007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55852007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231527003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70667005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS248600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015939 biolink:NamedThing obsolete systemic autoimmune disease An autoimmune form of systemic disease. tmpak2llvmy_mondo_relaxed.owl autoimmune systemic disease out of scope Orphanet:182228|UMLS:CN200529 This is a grouping class that is considered out of scope. MONDO:0007179 True owl:Class DOID:14694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230312006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000686.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0846967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707374005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3502809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C4511237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204508009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1648002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64479007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26436007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020003 biolink:NamedThing obsolete rare surgical cardiac disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 UMLS:CN206936|Orphanet:97965 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:97965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699870002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60812006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444231005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS218330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82699004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725592009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3839212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015878 biolink:NamedThing obsolete rare disease with autism tmpak2llvmy_mondo_relaxed.owl UMLS:CN200486|Orphanet:180772 This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead. True https://github.com/monarch-initiative/mondo/issues/1766|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017977 biolink:NamedThing obsolete 46,XY disorder of sex development of gynecological interest tmpak2llvmy_mondo_relaxed.owl 46,XY DSD of gynecological interest UMLS:CN227238|Orphanet:325632 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class UMLS:CN227238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230744007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371330000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449096009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:203923004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C2675860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3241961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716994006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278065000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35304003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:451602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3251797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93471006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:481665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37796009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015662 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired coagulation factor defect tmpak2llvmy_mondo_relaxed.owl rare coagulopathy due to an acquired coagulation factor defect|rare bleeding disorder due to an acquired coagulation factor defect MONDO:outOfScope Orphanet:166775|UMLS:CN226721 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C4432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3697673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39179006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404073009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58262005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009428 biolink:NamedThing obsolete childhood hypophosphatasia Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. tmpak2llvmy_mondo_relaxed.owl childhood-onset Rathburn disease|obsolete childhood hypophosphatasia|hypophosphatasia, childhood|childhood-onset hypophosphatasia|pediatric hypophosphatasia|childhood-onset phosphoethanolaminuria|hypophosphatasia of childhood out of scope MESH:C562440|ICD10:E83.3|DOID:0110915|GARD:0008735|Orphanet:247667|SCTID:30174008|UMLS:C0220743|OMIM:241510 MONDO:0600010|MONDO:0600009|MONDO:0600011 True https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia|https://github.com/monarch-initiative/mondo/issues/2906 owl:Class MESH:C535889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191216004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020623 biolink:NamedThing obsolete blood group--ul system tmpak2llvmy_mondo_relaxed.owl BLOOD GROUP--Ul SYSTEM|UL OMIM:112000 True owl:Class https://omim.org/entry/112000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19065005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3838731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80193009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111317000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733473000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN671931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018488 biolink:NamedThing obsolete rare genetic odontal or periodontal disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN237489|Orphanet:420755 May be obsoleted. The semantics of the ORDO class are not clear True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:420755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007291 biolink:NamedThing obsolete familial cerebral cavernous malformation tmpak2llvmy_mondo_relaxed.owl MONDO:0031037 True https://github.com/monarch-initiative/mondo/issues/2940 owl:Class MESH:C536888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64228003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715724002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3807235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277905003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/239711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230381009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92422009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0596046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3642471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66990007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:485275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3542922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:458432002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:119523007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240761008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237833006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26988005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254895003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015615 biolink:NamedThing obsolete rare genetic gastroenterological disease tmpak2llvmy_mondo_relaxed.owl rare genetic gastrointestinal system disease MONDO:0004335 Orphanet:165652|UMLS:CN199991 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C5948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253031000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012461 biolink:NamedThing obsolete bulimia nervosa, susceptibility to, 2 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0011846 True https://github.com/monarch-initiative/mondo/issues/1705 owl:Class UMLS:C0270911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28681006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2717757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63922003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723301009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127027008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763630007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302851001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1262483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2987260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766052008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711160007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3828832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230261006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234350007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268274005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191384005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28599006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359747000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126900000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/sparql/qc/mondo/qc-no-subclass-between-genetic-disease.sparql biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78494001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716381003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN230090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3665426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51387008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726340005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721235003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278052009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30753002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS182250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020024 biolink:NamedThing obsolete rare infertility Rare infertility. tmpak2llvmy_mondo_relaxed.owl rare infertility|rare infertility disorder MONDO:0005047 Orphanet:98047|UMLS:CN227735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/617088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30330001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C46105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS165500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766252004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3898582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://orcid.org/0000-0001-9990-8331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10573002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360507004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0239295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254662007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277605001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764622004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70341005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82732003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363463000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763128009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002497 biolink:NamedThing obsolete food allergy Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. tmpak2llvmy_mondo_relaxed.owl allergic disease from food material|allergy of food material|food hypersensitivity|food material allergic disease MONDO:outOfScope SCTID:414285001|EFO:1001890|DOID:3044|MESH:D005512 SCTID:157801005|ICD9:995.3|SCTID:213018006|UMLS:C0016470|SCTID:52332009 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D005512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84089009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020191 biolink:NamedThing obsolete eyebrow/eyelashes pigmentation anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98601 HP:0002226|HP:0002227 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:295193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232035005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92598002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254103003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:94146005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17585008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254215005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000746 biolink:NamedThing obsolete inguinal hernia The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. tmpak2llvmy_mondo_relaxed.owl NCIT:C34690|ICD10:K40|ICD9:550.90|ICD9:550|HP:0000023|SCTID:396232000|MESH:D006552|ICD10:K40.90|DOID:0060320 Represents finding. HP:0000023 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class NCIT:C34690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715776003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700463002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009117 biolink:NamedThing obsolete disorganization, mouse, homolog of tmpak2llvmy_mondo_relaxed.owl Ds|disorganization, mouse, homolog OF UMLS:C1857230|OMIM:223200 True owl:Class UMLS:C1857230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52182008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188274004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1812609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187740000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402781004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS275200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015116 biolink:NamedThing obsolete rare biliary tract disease Rare biliary tract disease. tmpak2llvmy_mondo_relaxed.owl rare biliary tract disease MONDO:0004868 Orphanet:101941|UMLS:CN197473 UMLS:C0005424|UMLS:C0750952 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN197473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254846003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41115008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766872002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719972004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1533674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1387721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015936 biolink:NamedThing obsolete rare tumor of endocrine glands A rare tumor that involves the endocrine gland. tmpak2llvmy_mondo_relaxed.owl tumor of endocrine glands|endocrine gland rare tumor MONDO:0002082 Orphanet:182130 MedDRA:10061121|UMLS:C0014132 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:99099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85670002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017661 biolink:NamedThing obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:307055|UMLS:CN203548 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C537933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763403007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D023903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019658 biolink:NamedThing obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpak2llvmy_mondo_relaxed.owl Orphanet:93222|ICD10:N04.3|UMLS:CN206531 Obsolete in Orphanet MONDO:0019006 True owl:Class UMLS:CN206531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398831006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707411007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703286006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1510791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92649001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188718006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044247 biolink:NamedThing obsolete palmomental reflex tmpak2llvmy_mondo_relaxed.owl PALMOMENTAL reflex OMIM:167700 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/167700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017308 biolink:NamedThing obsolete Marfan syndrome type 2 Hypothesized form of Marfan; dubious tmpak2llvmy_mondo_relaxed.owl Marfan syndrome type II|MFS2 MONDO:0012427 Orphanet:284973|ICD10:Q87.4|UMLS:C2931058|NCIT:C75007|MESH:C535911|UMLS:C2698016 True owl:Class UMLS:C2698016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:66 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:47159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91955005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55031000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58558003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3828464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51169003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128139000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018699 biolink:NamedThing obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy tmpak2llvmy_mondo_relaxed.owl Orphanet:457059 True owl:Class MESH:C537597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92029009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444645005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722389002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2828721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720519003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0054749 biolink:NamedThing obsolete body mass index quantitative trait locus 19 tmpak2llvmy_mondo_relaxed.owl BMIQ19|body MASS index quantitative trait locus 19|obesity, Susceptibility to OMIM:617885 True owl:Class https://omim.org/entry/617885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020254 biolink:NamedThing obsolete craniostenosis associated with a strabismus tmpak2llvmy_mondo_relaxed.owl Orphanet:98684 True owl:Class ORPHA:98684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C581942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126976007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699346009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39462005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:110997000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399091004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419197009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34014006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44553005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707234001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53926002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27618009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126855001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720981000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016314 biolink:NamedThing obsolete rare carcinoma of pancreas Rare pancreatic carcinoma. tmpak2llvmy_mondo_relaxed.owl rare pancreatic carcinoma|rare exocrine pancreatic carcinoma MONDO:0005192 Orphanet:217074|UMLS:CN201130 UMLS:C0235974|MedDRA:10033604|MedDRA:10033609|MESH:D010190|UMLS:C0346647 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:217074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126879004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702391001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725904009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763320005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444707001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017259 biolink:NamedThing obsolete systemic diseases with anterior uveitis tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:CN202777|Orphanet:280926 This is a grouping class that is considered out of scope. MONDO:0006651 True owl:Class SNOMEDCT:722122000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3484357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722109008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716006003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS278300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1388299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126953009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN774236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302873008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37193007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82800008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399076001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234539005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0070011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C28155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40527005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017261 biolink:NamedThing obsolete systemic diseases with panuveitis tmpak2llvmy_mondo_relaxed.owl out of scope Orphanet:280933|UMLS:CN202779 This is a grouping class that is considered out of scope. 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763830009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3896673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75610003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66139007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:408537003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3468041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0701157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127035006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044636 biolink:NamedThing obsolete rare hyperkinetic movement disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:494457 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:6839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448563005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D039141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387837005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016804 biolink:NamedThing obsolete exercise intolerance with lactic acidosis tmpak2llvmy_mondo_relaxed.owl Orphanet:254843 True owl:Class ORPHA:254843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233855002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55855009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254111008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240095001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763532008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700111000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724066002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57158005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38822007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717335009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:738526005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404057003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719688002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015869 biolink:NamedThing obsolete rare benign breast tumor Any of the forms of breast benign neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare breast benign neoplasm MONDO:0000620 Orphanet:180253 UMLS:C0346156 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D018298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715625007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234146006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45853006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200284000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405501007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015918 biolink:NamedThing obsolete rare neurodegenerative disease Rare neurodegenerative disease. tmpak2llvmy_mondo_relaxed.owl rare neurodegenerative disease MONDO:0005559 Orphanet:182070 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1335158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47639008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716585008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://robot.obolibrary.org/reason biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36083008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699299001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266162007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442551007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254715009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31273004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016633 biolink:NamedThing obsolete thrombotic disorder due to a constitutional coagulation factors defect tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226983|Orphanet:248361 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193411004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91489000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416257001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:393563007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724351008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193198003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011809 biolink:NamedThing obsolete mammographic density tmpak2llvmy_mondo_relaxed.owl mammographic density OMIM:607308|MESH:C564595 True owl:Class https://omim.org/entry/607308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423997002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78642008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111541001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020189 biolink:NamedThing obsolete eyebrow/eyelashes structural anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98599 HP:0000534|HP:0000499 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class MESH:C563753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/240600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721223002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63491006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128078004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236496000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN437676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715219001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700364009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000004.12 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2827361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C542540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015946 biolink:NamedThing obsolete rare genetic epidermal disorder tmpak2llvmy_mondo_relaxed.owl genetic epidermal disorder MONDO:0000001 Orphanet:183426|UMLS:CN200542 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0013647 biolink:NamedThing obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0031481 True https://github.com/monarch-initiative/mondo/issues/2940 owl:Class DOID:585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254129003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015107 biolink:NamedThing obsolete rare genetic eye disease A form of eye disease that is both rare and inborn. tmpak2llvmy_mondo_relaxed.owl rare genetic ophthalmologic disease|rare genetic eye disease MONDO:0005328 Orphanet:101435|UMLS:CN197465 TODO consider MESH:D015785 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN197465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717920004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31722008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:217710005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:54370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397015000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719823007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1292778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702373006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68913001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719979008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725587007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445479007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227194 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763531001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4834000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:207036003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123752003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN163181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000233 biolink:NamedThing term tracker item An IRI or similar locator for a request or discussion of an ontology term. tmpak2llvmy_mondo_relaxed.owl The 'tracker item' can associate a tracker with a specific ontology term. Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg term tracker item the URI for an OBI Terms ticket at sourceforge, such as https://sourceforge.net/p/obi/obi-terms/772/ Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg owl:AnnotationProperty UMLS:C0085106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0041440 biolink:NamedThing obsolete functional visual loss tmpak2llvmy_mondo_relaxed.owl nonphysiologic acuity loss|functional visual loss|nonphysiologic vision loss SCTID:313165001|UMLS:C0730512 True owl:Class UMLS:C0730512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4551 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1863922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724999003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402417009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718180000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C140267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017433 biolink:NamedThing obsolete dysostosis with combined reduction defects of upper and lower limbs tmpak2llvmy_mondo_relaxed.owl Orphanet:294957 True owl:Class UMLS:CN205719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188147009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720416007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015904 biolink:NamedThing obsolete rare hypolipidemia tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 Orphanet:181431|UMLS:CN226783 ICD10:E78.6 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236432001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41142009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123799005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277654008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:441447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128302006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389165004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715479009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN873435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764951002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721311006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44054006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216873 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:0110806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11687002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723828008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372105009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016635 biolink:NamedThing obsolete thrombotic disorder due to a platelet anomaly tmpak2llvmy_mondo_relaxed.owl out of scope Orphanet:248368|UMLS:CN226985 MONDO:0000831 True 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https://omim.org/entry/605280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29120000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109494000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72284000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429040005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015876 biolink:NamedThing obsolete rare vulvovaginal tumor tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200482|Orphanet:180312 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:180312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719203001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0100229 biolink:NamedThing obsolete Heimler syndrome A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. tmpak2llvmy_mondo_relaxed.owl deafness-enamel hypoplasia-nail defects syndrome|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities|deafness enamel hypoplasia nail defects|Heimler syndrome|bilateral sensorineural hearing loss, enamel hypoplasia and nail defects out of scope Orphanet:3220|SCTID:721085000|MESH:C535994|GARD:0001687|UMLS:C1856186 MONDO:0100259 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class UMLS:C1856186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2697932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239802003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722453009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44423001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236478009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:335002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51689003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765057007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020141 biolink:NamedThing obsolete infectious disease with dementia tmpak2llvmy_mondo_relaxed.owl UMLS:CN207022|Orphanet:98542 Dementia should be a feature, not a superclass. MONDO:0005550 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class NCIT:C159501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C4456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS132100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733600007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70385007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59655002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55602000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449866003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42030000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60743005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77480004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000071243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717014003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240849009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718573009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254875009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/11567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10026891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2609071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2018774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1303073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN225947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0936282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:281560004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597874 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:10616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239940004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416707008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71186008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720408003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MONDO:0004167 biolink:NamedThing obsolete lung clear cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0024386 DOID:7267|SCTID:254630009|UMLS:C0345959 True owl:Class DOID:7267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254611009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719811001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404035005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:408649007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/358137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1285174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190502001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71057007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2266788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764440006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400099008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20991001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018400 biolink:NamedThing obsolete rare female infertility due to an adrenal disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227346|Orphanet:399849 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C536207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0396023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699447001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129611009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111384001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:110310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCBITaxon:140878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702323008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63467002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723999009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016507 biolink:NamedThing obsolete rare surgically correctable form of primary aldosteronism Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226946|Orphanet:231637 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/609945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699315005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C3275521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716281000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS104290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006872 biolink:NamedThing obsolete nut allergic reaction Allergic reaction to tree nuts that is triggered by the immune system. tmpak2llvmy_mondo_relaxed.owl nut allergy|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease|allergy to nuts|allergy of 022 tree nuts (tn) (ccpr) MONDO:outOfScope DOID:4379|EFO:1001066|MESH:D021184|UMLS:C0577620|SCTID:91934008 SCTID:395654004 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D021184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:290006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312921000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724141003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5505005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446989009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23606001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4755316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36799008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699305004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:353295004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253907008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20059004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720575002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72991005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51604006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23975003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197663003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4317126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:303852004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/612965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26089000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11666007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83225003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0008434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:1653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:508542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124274002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82500001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN895590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1688637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35111009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN032247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN221577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN847585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253604004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48216006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16044751000119106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766757006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:227972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447275002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726606003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71904008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:316841006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198253003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733064004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193531003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019047 biolink:NamedThing obsolete rare deafness Any of the forms of hearing loss that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare hearing loss|total deafness|complete deafness MONDO:0005365 UMLS:CN227564|Orphanet:68361|NCIT:C36194 UMLS:C0581883|UMLS:C3711374 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416481006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763774001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44145005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/206570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234474009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011905 biolink:NamedThing obsolete familial hypercholanemia tmpak2llvmy_mondo_relaxed.owl MONDO:0031446 True https://github.com/monarch-initiative/mondo/issues/2940 owl:Class MESH:C567132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123952009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128473001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766711009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3944006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016997 biolink:NamedThing obsolete hereditary epidermolysis bullosa associated with ocular features tmpak2llvmy_mondo_relaxed.owl Orphanet:263676 Obsolete in Orphanet MONDO:0019276 True owl:Class MESH:C567147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:271569006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720816004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724064004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763536006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733603009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:60033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78317008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118941004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191201002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235853006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92165001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702346005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36070007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389272007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3662139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85777005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39390005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19726003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363428005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719250005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253020008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79336007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240171001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32659003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019295 biolink:NamedThing obsolete other dermis disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0021154 True owl:Class NCIT:C40277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254877001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:485421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403545005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0231311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044234 biolink:NamedThing obsolete hrm2 tmpak2llvmy_mondo_relaxed.owl HRM2|hair curvature, variation 1N|hair morphology 2|curly hair OMIM:139450 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55925001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C156767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715819005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702428000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766759009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403554008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:3608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C134941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1720999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719657001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011127 biolink:NamedThing obsolete Bartter disease type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0100344 True https://github.com/monarch-initiative/mondo/issues/2935 owl:Class https://omim.org/entry/227280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3161105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017541 biolink:NamedThing obsolete central polydactyly of toes, unilateral tmpak2llvmy_mondo_relaxed.owl mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral Orphanet:295183|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/400021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763884007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67685000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717182006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189099001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019515 biolink:NamedThing obsolete rare dementia Rare dementia. tmpak2llvmy_mondo_relaxed.owl rare dementia MONDO:0001627 Orphanet:89043|UMLS:CN227644 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447389009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86500004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62151007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019519 biolink:NamedThing obsolete rare skin disease Rare skin disease. tmpak2llvmy_mondo_relaxed.owl rare skin disease MONDO:0005093 UMLS:CN206332|Orphanet:89826 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:89826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS243180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92065004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:370999003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015963 biolink:NamedThing obsolete inherited renal tumor tmpak2llvmy_mondo_relaxed.owl genetic renal tumor Orphanet:183595|UMLS:CN200562 True owl:Class SNOMEDCT:8634009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425318003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88580009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61500009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C51224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C103817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19824006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254062008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017000 biolink:NamedThing obsolete X chromosome number anomaly with female phenotype tmpak2llvmy_mondo_relaxed.owl Orphanet:263717 True owl:Class DOID:219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0300934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400179000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:28 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255022003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016508 biolink:NamedThing obsolete rare non surgically correctable form of primary aldosteronism tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:231641|UMLS:CN226947 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:2887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92617001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80962007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27520001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:200037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719974003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93159009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128206006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254732008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90448008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721231007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1695985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715626008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017797 biolink:NamedThing obsolete rare odontologic tumor Any of the forms of odontogenic neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare odontogenic neoplasm|rare odontogenic tumor MONDO:0021192 UMLS:CN203756|Orphanet:314425 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN203756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53648006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718210003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016133 biolink:NamedThing obsolete rare hereditary metabolic disease with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200897|Orphanet:207018 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111520007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52186006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11218009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398768004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3278211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79037006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015113 biolink:NamedThing obsolete rare vascular liver disease tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 Orphanet:101938 UMLS:C0400923 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/608036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:297231002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:568005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020028 biolink:NamedThing obsolete rare allergic respiratory disease Rare respiratory allergy. tmpak2llvmy_mondo_relaxed.owl rare allergic respiratory disease|rare respiratory allergy MONDO:0000771 UMLS:C1504369|Orphanet:98052 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1504369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196753007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703298001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.geneontology.org/page/go-slim-and-subset-guide biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:441574008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015861 biolink:NamedThing obsolete rare uterine adnexal tumor tmpak2llvmy_mondo_relaxed.owl syn: Rare tumor of ovaries and fallopian tubes MONDO:outOfScope Orphanet:180220|UMLS:CN200464 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C1855926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719475006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019099 biolink:NamedThing obsolete rare soft tissue tumor Any of the forms of soft tissue neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare mesenchymal tumor|rare soft tissue neoplasm MONDO:0006424 Orphanet:71209 UMLS:C0037579 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:71209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78769001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14169000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015885 biolink:NamedThing obsolete rare insulin-resistance syndrome A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. tmpak2llvmy_mondo_relaxed.owl insulin Resistance syndrome MONDO:outOfScope NCIT:C113169|Orphanet:181368|UMLS:C3714619 Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:181368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200938002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:218728005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0395863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3683791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1096639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95472001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23686004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015868 biolink:NamedThing obsolete rare breast tumor Any of the forms of breast neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare breast neoplasm|rare breast cancer MONDO:0021100 Orphanet:180250 UMLS:C1458155 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84625002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3697982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:85653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C115993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414545008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425492002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2919796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721629005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1562298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764812008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35923002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719256004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:270494003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS167250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197458008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020013 biolink:NamedThing obsolete rare odontologic disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:98026|UMLS:CN206946 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/606053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764965000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702380008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765100000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190919008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30483005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719201004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446939001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254113006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0078918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81463002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402881008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253366007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764955006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0494040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0947622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29384001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191306005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126667002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020201 biolink:NamedThing obsolete conjunctival telangiectasia tmpak2llvmy_mondo_relaxed.owl obsolete conjunctival telangiectasia (disease)|conjunctival telangiectasia obsolete conjunctival telangiectasia (disease) MedDRA:10072143|Orphanet:98613|HP:0000524|UMLS:C0239105 Obsolete in Orphanet MONDO:0006170 True owl:Class ORPHA:98613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48796009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3840223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2711248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416960004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702378002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27194006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016055 biolink:NamedThing obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200739|Orphanet:199639 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN200739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372281005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:87 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763274002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0695242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764711007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1744705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359987004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404065000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN536249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276812001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61170000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:82 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715794009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312912001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764943000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN230268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020224 biolink:NamedThing obsolete rare cataract Rare cataract. tmpak2llvmy_mondo_relaxed.owl rare cataract|rare cataract (disease) MONDO:0005129 Orphanet:98640 UMLS:C0086543 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10030948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3891452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/400043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:45448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423590009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126902008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92272009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237818003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722763000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40275004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020032 biolink:NamedThing obsolete rare urinary tract tumor Rare urinary system benign neoplasm. tmpak2llvmy_mondo_relaxed.owl rare urinary tract neoplasm|rare urinary system neoplasm|rare urinary tract cancer MONDO:0021066 Orphanet:98058|UMLS:CN206957 Editor note: ORDO considers this benign but there are rare urinary tract tumors that are non-benign UMLS:C0042076|UMLS:C0751571 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50797007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS127500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41720003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765212008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1112486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398250003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/juvenile.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719577000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64779008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1262481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721147000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60684003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0919746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289841 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27982003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1135873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233629001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537162 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tmpak2llvmy_mondo_relaxed.owl NCIT:C4331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81519008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255111004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69478001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3500 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255081007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002264 biolink:NamedThing obsolete atrophy of prostate tmpak2llvmy_mondo_relaxed.owl prostate atrophy|atrophy of prostate|atrophic prostate DOID:2301|ICD9:602.2|UMLS:C0156296|ICD10:N42.2|SCTID:29524003 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class UMLS:C0156296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74469006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015123 biolink:NamedThing obsolete rare inherited dyslipidemia Rare lipid metabolism disorder. tmpak2llvmy_mondo_relaxed.owl rare lipid metabolism disorder|rare dyslipidemia MONDO:0002525 Orphanet:101953 ICD10:E78.6|ICD10:E78.2|ICD10:E78.3|ICD10:E78.1|ICD10:E78.0|ICD10:E78.5|ICD10:E78.4|ICD10:E78.8|UMLS:C0242339|ICD10:E78.9 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C40188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14560005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0861855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017633 biolink:NamedThing obsolete rare intoxication due to medical products tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:306640|UMLS:CN227165 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015673 biolink:NamedThing obsolete rare cardiac tumor Any of the forms of heart neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare heart neoplasm MONDO:0021209 Orphanet:168194 UMLS:C0018809 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:168194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92413008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56454009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201796004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51626007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190905008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702406000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239928004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4040879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56905009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C2931663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:25 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443095000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39912006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699267007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:406446000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717183001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266108008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS164310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702425002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238081000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014709 biolink:NamedThing obsolete Heimler syndrome 2 tmpak2llvmy_mondo_relaxed.owl Heimler syndrome type 2|HMLR2|HEIMLER syndrome 2|peroxisome biogenesis disorder 4C|Heimler syndrome 2 out of scope DOID:0080624|OMIM:616617|UMLS:C4225267 MONDO:0100263 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class DOID:0080624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716189005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19138001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:558411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363407001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3541319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417967008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92185002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018410 biolink:NamedThing obsolete rare genetic female infertility tmpak2llvmy_mondo_relaxed.owl MONDO:0021124 UMLS:CN227353|Orphanet:400008 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404068003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0546345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0809935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68675004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4054287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29145002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D043202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126805009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020803 biolink:NamedThing obsolete bundle branch block A defect of the bundle branches or fascicles in the electrical conduction system of the heart. tmpak2llvmy_mondo_relaxed.owl SCTID:6374002 HP:0011710 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class UMLS:C2675014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423673009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187724003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403771007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019996 biolink:NamedThing obsolete rare cardiac disease Rare heart disease. tmpak2llvmy_mondo_relaxed.owl rare heart disease MONDO:0005267 Orphanet:97929|UMLS:CN206932 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27544004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:738527001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363457009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3642326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:368851000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60342002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234590006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192004002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702351004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044276 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 11 tmpak2llvmy_mondo_relaxed.owl skin/hair/eye pigmentation, variation IN, 11|SHEP11|skin/hair/eye pigmentation 11, blue/Nonblue eyes|Melanesian blond hair OMIM:612271 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007778 biolink:NamedThing obsolete hypertelorism A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). tmpak2llvmy_mondo_relaxed.owl hypertelorism|hypertelorism of orbit|obsolete hypertelorism (disease) obsolete hypertelorism (disease) HP:0000316|SCTID:22006008|MESH:D006972|NCIT:C34715|ICD9:376.41|OMIM:145400 Hypertelorism is a phenotypic feature. HP:0000316 True https://github.com/monarch-initiative/mondo/issues/1574 owl:Class MESH:D006972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91038008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111359004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717255008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71785001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234397008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:314428001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020037 biolink:NamedThing obsolete rare gynecological tumor Rare female reproductive system neoplasm. tmpak2llvmy_mondo_relaxed.owl rare gynaecological cancer|rare female reproductive system neoplasm|rare gynaecological neoplasm MONDO:0021148 UMLS:CN206962|Orphanet:98063 UMLS:C0699889|UMLS:C0017416 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN895591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31194008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54411001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2939465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000800 biolink:NamedThing obsolete brown shrimp allergy A allergic disease involving a brown shrimp. tmpak2llvmy_mondo_relaxed.owl allergy of brown shrimp|Farfantepenaeus aztecus allergy|brown shrimp allergic disease MONDO:outOfScope DOID:0060525 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0495106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697897003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717790004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20610004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716865000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274903001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4086162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70691001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697898008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21454007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016627 biolink:NamedThing obsolete rare hemorrhagic disorder tmpak2llvmy_mondo_relaxed.owl rare bleeding disorder|rare coagulopathy MONDO:0002243 UMLS:CN226978|Orphanet:248308 UMLS:C0019087|UMLS:C0005779 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416878008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:96 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000677.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:cl.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444545003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2937288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276809004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0206754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45198002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30588004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446643000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1513782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267403002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10883 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tmpak2llvmy_mondo_relaxed.owl MESH:C565971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721082002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32139003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D039941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/149400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:varietas biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720976009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277550009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:426451004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88518009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276436007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/400045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75543006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22033007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/170390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702361006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000021.9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254174005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72744008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2985175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191347008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109420003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28143002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1257958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015507 biolink:NamedThing obsolete rare genetic hepatic disease Rare genetic liver disease. tmpak2llvmy_mondo_relaxed.owl rare genetic liver disease MONDO:0005154 UMLS:CN199640|Orphanet:156601 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1335743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36871005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363453008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015618 biolink:NamedThing obsolete genetic pancreatic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0002356 Orphanet:165661|UMLS:CN199994 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:165661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18085000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90708001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126833009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764512003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D048090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS166200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1510460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709413001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66987001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722064003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70647001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3152055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725101002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230482003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:60009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127071007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398102009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:cl#added_for_HCA biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:D008441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126975006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70995007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:227859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:261647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726705007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109493006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1292753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237941007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1279412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15188001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019546 biolink:NamedThing obsolete other acquired skin disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:90077|UMLS:CN206373 Editor note: consider merging. True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:D054179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044269 biolink:NamedThing obsolete novelty seeking personality trait Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. tmpak2llvmy_mondo_relaxed.owl novelty seeking personality trait|risk-taking behavior OMIM:601696 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1443972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715982006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4054549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28183005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1318533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75572007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716097001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726672000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4024960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0454651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47312008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0743086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2316212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275864 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl ORPHA:101206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718897009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404076001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0042978 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS118220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26111005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363668000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715822007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238770007 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tmpak2llvmy_mondo_relaxed.owl MESH:C563233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719517009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0740394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3978000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77479002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352718 biolink:NamedThing 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dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant MONDO:outOfScope UMLS:CN206999|Orphanet:98353 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:95495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009531 biolink:NamedThing obsolete lip prints tmpak2llvmy_mondo_relaxed.owl lip prints OMIM:247150 True owl:Class https://omim.org/entry/247150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363700 biolink:NamedThing 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UMLS:C0265554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C7990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4545229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/194000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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NCIT:C97164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN580791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34831003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75049004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0456889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0599464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609143007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020116 biolink:NamedThing obsolete rare blood coagulation disease Any of the forms of blood coagulation disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare coagulation disorder|rare blood coagulation disease MONDO:0001531 Orphanet:98429 UMLS:C0005779 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C563546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0578661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2363903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61772003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020199 biolink:NamedThing obsolete conjunctival vascular anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98611 Obsolete in Orphanet MONDO:0006170 True owl:Class ORPHA:98611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128351009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609579009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397825006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29352008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C88026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0040259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C4289585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS148210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716999001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044272 biolink:NamedThing obsolete body mass index quantitative trait locus 9 tmpak2llvmy_mondo_relaxed.owl obesity, susceptibility to|body MASS index quantitative trait locus 9|BMIQ9 OMIM:602025 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/602025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109441000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234607008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8211008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:448147005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766883006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D023521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734045002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87607002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C3642329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:29072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7426009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255108000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS616866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1963946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024624 biolink:NamedThing obsolete atrophy of lacrimal gland A degenerative disorder that involves the lacrimal gland. tmpak2llvmy_mondo_relaxed.owl degenerative disorder of lacrimal gland|atrophy of lacrimal gland|lacrimal atrophy|lacrimal gland degenerative disorder UMLS:C0339119|SCTID:91951001 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class SNOMEDCT:91951001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14223005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233678006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58008004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2043009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1368066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0110305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764791008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46724008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188307009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402624000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3854394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307496006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723334006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28987007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:41308008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20842008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766053003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699316006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020619 biolink:NamedThing obsolete blood group, langereis system tmpak2llvmy_mondo_relaxed.owl LAN|BLOOD GROUP, LANGEREIS SYSTEM OMIM:111600 True owl:Class https://omim.org/entry/111600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92070006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS178110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31268005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C134952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1059007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725907002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36971009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15545001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716723000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715439000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0030965 biolink:NamedThing obsolete olmsted syndrome 2 tmpak2llvmy_mondo_relaxed.owl duplicate OMIM:619208 True https://github.com/monarch-initiative/mondo/pull/3056 owl:Class https://omim.org/entry/619208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:43117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:303011007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725590001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:421182009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78623009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10041736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1096346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/231044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700211007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2391001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187151009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763632004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018336 biolink:NamedThing obsolete Silver-Russell syndrome due to a point mutation tmpak2llvmy_mondo_relaxed.owl Orphanet:397590|ICD10:Q87.1|UMLS:CN225933 We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. MONDO:0008394 True https://github.com/monarch-initiative/mondo/issues/1842 owl:Class ORPHA:397590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0243000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363469001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126872008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717016001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697907008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16631009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3489725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2355008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22830006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23360000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018455 biolink:NamedThing obsolete dysostosis of genetic origin with limb anomaly as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:404571 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:404571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126677000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84299009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371628009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718188007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764688002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87665008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C000598644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430395005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:411511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717286002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26179002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl ORPHA:98486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387922007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015969 biolink:NamedThing obsolete rare genetic thyroid disease Rare genetic thyroid disease. tmpak2llvmy_mondo_relaxed.owl rare genetic thyroid disease MONDO:0003240 Orphanet:183631|UMLS:CN200568 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:702342007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0400821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:27317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1863224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4287868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0585362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123976001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124267007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3899655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720460007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719020006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85149007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718095000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720513002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020187 biolink:NamedThing obsolete eyelashes hypertrophy tmpak2llvmy_mondo_relaxed.owl eyelashes trichomegalia|eyelashes polytrichia Orphanet:98597 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class UMLS:C1834340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124252008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716859000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188745007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000434 biolink:NamedThing obsolete peripheral T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000430 True owl:Class MESH:C565864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238700008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26147006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363492001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3273067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3731000119107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718228001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1378050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03420310 biolink:NamedThing obsolete: stamen tmpak2llvmy_mondo_relaxed.owl True owl:Class PO:0009029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C3280282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3203346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84245004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764734003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN734570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000589 biolink:NamedThing OBO foundry unique label An alternative name for a class or property which is unique across the OBO Foundry. tmpak2llvmy_mondo_relaxed.owl GROUP:OBO Foundry The intended usage of that property is as follow: OBO foundry unique labels are automatically generated based on regular expressions provided by each ontology, so that SO could specify unique label = 'sequence ' + [label], etc. , MA could specify 'mouse + [label]' etc. Upon importing terms, ontology developers can choose to use the 'OBO foundry unique label' for an imported term or not. The same applies to tools . OBO foundry unique label PERSON:Melanie Courtot|PERSON:Alan Ruttenberg|PERSON:Bjoern Peters|PERSON:Chris Mungall owl:AnnotationProperty UMLS:C0016756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C105551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:98841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:10624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/608970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:47044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58610003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129179000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254856004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76107001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254738007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4776004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000003.12 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15739006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19750001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1876175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363518003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0919638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764096006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715795005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25913001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711524008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87153008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015305 biolink:NamedThing obsolete rare endometriosis Rare endometriosis. tmpak2llvmy_mondo_relaxed.owl endometriosis outside pelvis|extrapelvic endometriosis|rare endometriosis|rare endometriosis (disease) MONDO:0005133 Orphanet:137820|SCTID:237117005|UMLS:C0404545 ICD10:N80.3|ICD10:N80.9|ICD10:N80.4|ICD10:N80.2|ICD10:N80.6|ICD10:N80.0|ICD10:N80.8|ICD10:N80.5|UMLS:C0014175|ICD10:N80.1 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:2706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86927009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725046003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239832006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194240006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68072000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717258005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715504003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722451006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84004001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44279002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277567002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92589000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42872003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38362002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240417004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0729734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014424 biolink:NamedThing obsolete congenital deficiency in alpha-fetoprotein Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. tmpak2llvmy_mondo_relaxed.owl AFPD|ALPHA-fetoprotein deficiency out of scope UMLS:C1863081|Orphanet:168612|MESH:C566300|OMIM:615969 This is a biological anomaly and not a disease. True owl:Class ORPHA:168612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57414003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D022861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74783009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1306804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/303100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39772007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254922006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126670003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44697002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253184003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702377007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718175009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015576 biolink:NamedThing obsolete rare viral disease Rare viral disease. tmpak2llvmy_mondo_relaxed.owl rare viral disease|rare viral infectious disease MONDO:0005108 Orphanet:163585|UMLS:CN199939 UMLS:C0042769|UMLS:C0042740 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:163585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276836002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81060008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C103917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10128002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254096001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312991009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5364006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92289001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237072009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70610001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703294004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721233005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://robot.obolibrary.org/extract biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5602001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363436001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726349006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7180009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718850008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22149007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0265377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020025 biolink:NamedThing obsolete rare male infertility Rare male infertility. tmpak2llvmy_mondo_relaxed.owl rare male infertility MONDO:0005372 Orphanet:98048 UMLS:C0021364 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0155010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363378008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41446000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69361009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8326008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700242002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126881002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42643001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0994344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019174 biolink:NamedThing obsolete infantile Refsum disease Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). tmpak2llvmy_mondo_relaxed.owl out of scope MESH:D052919|SCTID:238062008|GARD:0004648|ICD10:G60.1|NCIT:C84789|Orphanet:772|UMLS:C0282527 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class UMLS:C0282527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0027416 biolink:NamedThing obsolete retinal cone dystrophy 2 tmpak2llvmy_mondo_relaxed.owl RCD2|Cone dystrophy progressive|Progressive cone degeneration MONDO:0011143 GARD:0010117 True owl:Class https://omim.org/phenotypicSeries/PS142700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253194008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40929003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726350006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0677055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697903007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10021312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93151007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000117 biolink:NamedThing term editor Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: 20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115. term editor PERSON:Daniel Schober owl:AnnotationProperty UMLS:CN226913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82473003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719981005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189979005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C141442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS125310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30280005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73146005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS109720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186273003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17025000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40951006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71444005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277879009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1455705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:32960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276811008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715401008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:strain biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN034858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201163007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80773006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92437008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017650 biolink:NamedThing obsolete rare myoclonus tmpak2llvmy_mondo_relaxed.owl MONDO:0005395 UMLS:CN227170|Orphanet:306747 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:721228006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231996009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198057005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87872006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70241007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55464009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360378009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721573003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018265 biolink:NamedThing obsolete rare disorder with dystonia and other neurologic or systemic manifestation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227296|Orphanet:370106 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:370106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63119004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23067006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724063005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0679362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3276161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN623017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020251 biolink:NamedThing obsolete rare strabismus and restriction syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207070|Orphanet:98681 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0334353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84727000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001932 biolink:NamedThing obsolete atrophic vulva tmpak2llvmy_mondo_relaxed.owl atrophy of vulva|atrophic vulva|atrophic vulvitis ICD10:N90.5|ICD9:624.1|SCTID:248861000|DOID:14275|UMLS:C0156393 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class DOID:14275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015328 biolink:NamedThing obsolete rare bone development disorder Any of the forms of bone development disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl bone development disorder|rare skeletal development disorder|rare bone development disease MONDO:0005497 NCIT:C34432|Orphanet:139012 UMLS:C0005941 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:139012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725044000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766716004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127018007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20828000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1456400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367601000119103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254694002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254642004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:527497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C25765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:300706003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20052008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234578009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56048001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764456001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:cohort biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/170600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699420006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015616 biolink:NamedThing obsolete rare genetic intestinal disease tmpak2llvmy_mondo_relaxed.owl genetic intestinal disease MONDO:0005020 Orphanet:165655|UMLS:CN199992 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58037000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5689008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89392001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11244009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240450004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74351001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763691008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254620000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1739395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:456328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10005932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702432006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020624 biolink:NamedThing obsolete blood group--waldner type tmpak2llvmy_mondo_relaxed.owl BLOOD GROUP--WALDNER TYPE|Waldner Blood Group Antigen|WD OMIM:112010 True owl:Class https://omim.org/entry/112010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81208006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D031300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019304 biolink:NamedThing obsolete rare photodermatosis tmpak2llvmy_mondo_relaxed.owl rare skin photosensitivity MONDO:outOfScope Orphanet:79390|UMLS:C0920193 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0920193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1563715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2438005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3698095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191618007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707365008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:92749008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS128200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278532000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417441005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733518000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0175699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372065009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721903007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:303098002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C171299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725408001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192014006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021194 biolink:NamedThing obsolete disease by subcellular system affected A grouping of diseases based on molecular activity, cellular process or subcellular component. tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:CN282827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11538006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718756005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C40383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C165469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48180002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38907003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37350004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001012 biolink:NamedThing obsolete breast fibroadenosis tmpak2llvmy_mondo_relaxed.owl fibroadenosis of breast|fibroadenosis - breast SCTID:23260002|DOID:10352|UMLS:C1305875|ICD10:N60.2|ICD9:610.2 Obsoleting because this is a phenotype. HP:0010619 True https://github.com/monarch-initiative/mondo/issues/429 owl:Class DOID:10352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62914000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN924922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27503000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307576001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020000 biolink:NamedThing obsolete rare respiratory disease Rare respiratory system disease. tmpak2llvmy_mondo_relaxed.owl rare respiratory system disease MONDO:0005087 Orphanet:97955|UMLS:CN206934 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235075007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423341008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31155007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234433009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000795 biolink:NamedThing obsolete penicillin allergy An allergy to Penicillin. tmpak2llvmy_mondo_relaxed.owl allergy of penicillin|penicillin allergic disease MONDO:outOfScope ICD9:V14.0|UMLS:C0030824|SCTID:91936005|NCIT:C34911|DOID:0060520 ICD9:995.27 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37102008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363478007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:0050740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81407003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0040066 biolink:NamedThing obsolete Abnormal morphology of bones of the lower limbs tmpak2llvmy_mondo_relaxed.owl HP:0040069 True human_phenotype owl:Class UMLS:C1867340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232006002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402824003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67678004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:270491006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722458000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397758007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6374002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703533007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363401000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000069281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718141008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92385005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27052006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4512018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:214600002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233982006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017122 biolink:NamedThing obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN202475|Orphanet:269573 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:C4510567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002510 biolink:NamedThing obsolete germ cell and embryonal cancer Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. tmpak2llvmy_mondo_relaxed.owl germ cell and embryonal neoplasm MESH:D009373|DOID:3095 Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed. MONDO:0005040 True https://github.com/monarch-initiative/mondo/issues/376 owl:Class NCIT:C3946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:CN203768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717225001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93929003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003043 biolink:NamedThing obsolete extraskeletal mesenchymal chondrosarcoma A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. tmpak2llvmy_mondo_relaxed.owl mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma NCIT:C27481|SCTID:404080006|UMLS:C1275279|DOID:4548|ICD9:171.9 Obsolete in NCIT. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class SNOMEDCT:404080006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26682008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4509918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719651000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020140 biolink:NamedThing obsolete late-onset ataxia with dementia tmpak2llvmy_mondo_relaxed.owl Orphanet:98540 True owl:Class UMLS:CN776887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766720000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717191005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009427 biolink:NamedThing obsolete infantile hypophosphatasia Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. tmpak2llvmy_mondo_relaxed.owl infantile Rathburn disease|hypophosphatasia, perinatal lethal|HOPS|hypophosphatasia, infantile|obsolete infantile hypophosphatasia|infantile phosphoethanolaminuria out of scope DOID:0110914|SCTID:55236002|Orphanet:247651|ICD10:E83.3|UMLS:C0268412|OMIM:241500 http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600009 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class SNOMEDCT:55236002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35487009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001193 biolink:NamedThing obsolete chorioretinal scar tmpak2llvmy_mondo_relaxed.owl HP:0007777 ICD10:H31.00|DOID:11086|ICD10:H31.0|ICD9:363.30|ICD9:363.3|SCTID:53854005 True owl:Class ORPHA:94087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398148000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39898005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:415111003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277602003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238024005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7393007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1292777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:562559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3671377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205821003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721105004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764811001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:dron.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8757006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46795000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37340000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50448004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9899009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126832004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:505248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188244007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:37 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C173104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367498001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:134209002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/134400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C570377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128107007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312682007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711158005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197811007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000422 biolink:NamedThing obsolete inborn glycogen metabolism disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0002412 True owl:Class NCIT:C66950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126732009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10005001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:528623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87191000119100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020104 biolink:NamedThing obsolete rare constitutional hemolytic anemia due to an enzyme disorder tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:98369|UMLS:CN227782 Editor note: consider merging with parent ICD10:D55.1|ICD10:D55.3|ICD10:D55.0|ICD10:D55.2|ICD10:D55.9|ICD10:D55.8 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24750000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416377005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015984 biolink:NamedThing obsolete rare genetic immune disease Rare genetic immune system disease. tmpak2llvmy_mondo_relaxed.owl rare genetic immune system disease MONDO:0005046 Orphanet:183770|UMLS:CN200582 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C125386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044251 biolink:NamedThing obsolete australia antigen tmpak2llvmy_mondo_relaxed.owl Australia antigen OMIM:209800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/209800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/244600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:528091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021037 biolink:NamedThing obsolete genetic neurodegenerative disease with dementia An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl genetic neurodegenerative disease with dementia Orphanet:276058|UMLS:CN202589 Dementia should be a feature, not a superclass. MONDO:0024237 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class UMLS:CN202589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765488003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66590003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124511000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN706304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/190310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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constitutional coagulation factors defect tmpak2llvmy_mondo_relaxed.owl rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect MONDO:outOfScope Orphanet:68334|UMLS:CN227563 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4330050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86470003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205473008 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1142166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111307005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764860006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302872003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307649006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN882913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:331244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709416009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92050000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4602007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60189009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124343001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0236026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275437005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31054009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016252 biolink:NamedThing obsolete rare uterine cancer Rare uterine cancer. tmpak2llvmy_mondo_relaxed.owl rare uterine malignant tumor|rare malignant tumor of uterus|rare cancer of uterus|rare uterine cancer MONDO:0002715 Orphanet:213564 UMLS:C0153567 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:9477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763374004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700423003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:434809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43959009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016253 biolink:NamedThing obsolete rare cancer of corpus uteri tmpak2llvmy_mondo_relaxed.owl rare malignant tumor of corpus uteri MONDO:0004992 Orphanet:213569 UMLS:C0153574 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:213569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017671 biolink:NamedThing obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature tmpak2llvmy_mondo_relaxed.owl autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature MONDO:outOfScope Orphanet:307804|UMLS:CN203557 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:307804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12631000119106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35607004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0851886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN221667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3829122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725419003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763743003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0745261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48788004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363445000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57207003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126699008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4551987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10030286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:122711000119109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0154682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS612286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:309465005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702443003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699669001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111898002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68345001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95877004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1997362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:10528009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C162611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2607931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344456 biolink:NamedThing 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DOID:0110592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0028741 biolink:NamedThing obsolete overgrowth or tall stature syndrome with skeletal involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:498448 True owl:Class ORPHA:1527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015578 biolink:NamedThing obsolete rare mycosis Rare fungal infectious disease. tmpak2llvmy_mondo_relaxed.owl rare fungal infectious disease MONDO:0002041 Orphanet:163591 UMLS:C0026946 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:234451005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5488 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ORPHA:295041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17885001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716652006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719574007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61253004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195199008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763457000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733522005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0543514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239138008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:18 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34486009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66986005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015960 biolink:NamedThing obsolete rare genetic developmental defect during embryogenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0021147 Orphanet:183530|UMLS:CN226804 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1865184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715487005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719013004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720515009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10073002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717914000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87614000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27025001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109550008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13059002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715628009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28740008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721977007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C107101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21426000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:102450007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721221000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1299627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39795003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C9242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85983004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237542005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4854004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D031954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:309776008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38708003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050651 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49084001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:9369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234970006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018286 biolink:NamedThing obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature tmpak2llvmy_mondo_relaxed.owl non-X-linked CDG with intellectual disability as a major feature MONDO:outOfScope Orphanet:371064 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class NCIT:C157532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0006008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403906006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS235400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237914002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715807002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230690007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75667007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MESH:D014091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13404009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715736008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765331004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27536004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3896969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:331176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715735007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28259009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766239009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698053001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D064090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236706006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766709000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020269 biolink:NamedThing obsolete syndromic ichthyosis associated with ocular features A ichthyosis associated with ocular features that is part of a larger syndrome. tmpak2llvmy_mondo_relaxed.owl syndromic ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features UMLS:CN227843|Orphanet:98699 This grouping class is no longer needed. 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN207082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0861856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88233000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2584620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/124950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019183 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404633004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3854048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3492944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89000008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718096004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234411007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C136486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734990008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016517 biolink:NamedThing obsolete rare genetic vascular disease Rare genetic vascular disease. tmpak2llvmy_mondo_relaxed.owl rare genetic vascular disease MONDO:0005385 UMLS:CN201558|Orphanet:233655 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:233655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39452003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204113001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124221007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423158009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26039008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47367009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN073991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1112166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018880 biolink:NamedThing obsolete rare teratologic disease tmpak2llvmy_mondo_relaxed.owl acquired embryofetopathy MONDO:outOfScope UMLS:CN205231|Orphanet:52662 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/220120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:206523001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733049004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0677608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10026883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734016004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:2316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83264000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS268310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4048549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0153208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:592574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766813000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80612004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017978 biolink:NamedThing obsolete syndrome with disorder of sex development of gynecological interest tmpak2llvmy_mondo_relaxed.owl syndrome with DSD of gynecological interest UMLS:CN204125|Orphanet:325638 These terms are not used clinically. MONDO:0001967|MONDO:0002145 True owl:Class ORPHA:325638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1527406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28670008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402721001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0050466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018236 biolink:NamedThing obsolete dysostosis with limb and face anomalies as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:364571 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:364571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83942000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2063886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:C537903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718614004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109475005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11178005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1720189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37200009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233908008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718219002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442917000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127013003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2827407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702345009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016623 biolink:NamedThing obsolete rare deficiency anemia Any of the forms of deficiency anemia that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare deficiency anemia MONDO:0001639 Orphanet:248293 UMLS:C0041782 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1333306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702411003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232063007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307604008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188744006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118601006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197416005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1841657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238048001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:133898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C34726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719136005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:60014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716387004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3501858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254847007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:270903007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237817008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/172870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0036491 biolink:NamedThing obsolete rare childhood malignant neoplasm An infrequent malignant neoplasm that occurs during childhood. tmpak2llvmy_mondo_relaxed.owl Rare malignant neoplasm|rare childhood malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer MONDO:0006517 NCIT:C114451|UMLS:C3828369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3828369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0750071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017368 biolink:NamedThing obsolete systemic disease with skin involvement tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:CN203041|Orphanet:290836 This is a grouping class that is considered out of scope. MONDO:0005093 True owl:Class UMLS:CN203041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722434004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254645002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44572005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363358000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C67235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015889 biolink:NamedThing obsolete rare hypothalamic or pituitary disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:181384|UMLS:CN200503 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231719009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238840009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:134031000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197441003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:2572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4024851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#CLINGEN_PREFERRED biolink:NamedThing clingen preferred tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:2346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95518006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:envo.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205769006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66931009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0864950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722391005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#mostly_harmless biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl condition has no severe phenotypes and is harmless or mostly harmless owl:AnnotationProperty MEDDRA:10012812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020202 biolink:NamedThing obsolete conjunctival lymphangiectasia tmpak2llvmy_mondo_relaxed.owl SCTID:231871007|ICD9:372.89|UMLS:C0339186|Orphanet:98614 Obsolete in Orphanet MONDO:0006170 True owl:Class SNOMEDCT:231871007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111524003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92384009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018397 biolink:NamedThing obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder tmpak2llvmy_mondo_relaxed.owl rare female infertility due to gonadotropic axis disorder|rare female infertility due to hypothalamic-pituitary-ovarian axis disorder MONDO:outOfScope UMLS:CN227343|Orphanet:399831 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:464440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111806005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733489002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86907008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445006008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020038 biolink:NamedThing obsolete gonadal dysgenesis of gynecological interest tmpak2llvmy_mondo_relaxed.owl Orphanet:98074 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class ORPHA:98074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765484001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722005000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720600004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81771002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88075009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193031009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:453499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0070838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:3032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/223320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0236791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49692006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766251006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715866009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92590009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80544005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82661006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763622006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54160000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45339001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D066190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37981002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:361115000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82323002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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MESH:C537724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6738008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1899006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:9250002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118609008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720956003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719210007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190785000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235916001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58648008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:55596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52542005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702445005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722058005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715575001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:328661000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0872084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50926003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18077009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1167650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68237008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D021865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75238000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015857 biolink:NamedThing obsolete rare non-malformative gynecologic or obstetric disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200458|Orphanet:180199 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:521390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188153009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95568003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95797003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:415297005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D042883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018833 biolink:NamedThing obsolete rare idiopathic macular telangiectasia tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN776863|Orphanet:482092 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN776863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36989005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764961009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:262461007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254713002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:712922002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13978000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38371006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715532007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000792 biolink:NamedThing obsolete zebrafish allergy tmpak2llvmy_mondo_relaxed.owl DOID:0060517 True owl:Class DOID:0060517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23892008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002324 biolink:NamedThing obsolete enamel erosion tmpak2llvmy_mondo_relaxed.owl DOID:2497|ICD9:521.31 obsolete as not a disease True owl:Class DOID:2497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193638002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205819008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019410 biolink:NamedThing obsolete nodulosis-arthropathy-osteolysis syndrome tmpak2llvmy_mondo_relaxed.owl NAO syndrome|multicentric osteolysis-nodulosis-arthropathy syndrome Orphanet:85196|ICD10:M89.5|UMLS:CN206138 Obsolete in Orphanet MONDO:0018298 True owl:Class ORPHA:85196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50967008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733116005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35691006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000118 biolink:NamedThing alternative term An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent) tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: alternative term PERSON:Daniel Schober owl:AnnotationProperty UMLS:C1834671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4048705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239082002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000069293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0549423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195381005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64250002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722006004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396343006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30664006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/neoplasm_by_origin.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51040009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33710003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021103 biolink:NamedThing obsolete collagen diseases Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) tmpak2llvmy_mondo_relaxed.owl collagen disorder|diseases, collagen|collagen disease|disease, collagen ICD9:710.8|ICD9:710.9|UMLS:C0009326|SCTID:81573002|DOID:854|MESH:D003095 MONDO:0003900|MONDO:0005554 True owl:Class MESH:D003095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/613938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2033037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118602004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404039004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4085243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720523006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019965 biolink:NamedThing obsolete rare benign ovarian tumor Any of the forms of ovarian benign neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare ovarian benign neoplasm MONDO:0000646 Orphanet:97293 UMLS:C0004997 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:312418006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766751007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/508459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0519037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718226002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35339003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254778000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67761004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0004872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:67042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN339707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN902091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0002818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/234280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187842004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2939435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75241009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C32132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/110150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127055007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4647 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0338508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722381004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54385001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717811007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19442009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187736009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN072428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41545003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238612002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719103009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C60709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1627767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93018000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68637004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764730007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124596009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015139 biolink:NamedThing obsolete rare epilepsy Rare epilepsy. tmpak2llvmy_mondo_relaxed.owl rare epilepsy MONDO:0005027 Orphanet:101998|UMLS:CN244924 ICD10:G40.3|ICD10:G40.7|UMLS:C0014544|ICD10:G40.4|ICD10:G40.1|ICD10:G40.5|ICD10:G40.9|ICD10:G40.8|ICD10:G40.2|ICD10:G40.6|ICD10:G40.0 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0041312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118600007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92085000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29291001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1824925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020184 biolink:NamedThing obsolete rare eyebrow/eyelashes anomaly tmpak2llvmy_mondo_relaxed.owl UMLS:CN227808|Orphanet:98594 Editor note: does not align with anatomy HP:0000534|HP:0000499 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1501 owl:Class MONDO:0015112 biolink:NamedThing obsolete rare pancreatic disease Any of the forms of pancreas disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare pancreas disease MONDO:0002356 Orphanet:101937 UMLS:C0030286 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/240300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN068649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018928 biolink:NamedThing obsolete rare hepatic disease Rare liver disease. tmpak2llvmy_mondo_relaxed.owl rare liver disease MONDO:0005154 UMLS:CN205315|Orphanet:57146 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1866719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/233758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235001002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54627004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0050880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:D057178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl ORPHA:356996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724171006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60620005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764696007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79417003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20852007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721141004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95637005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230387008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92559007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1419614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238069004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45781009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3713420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0011357 biolink:NamedThing obsolete Abnormality of hair density tmpak2llvmy_mondo_relaxed.owl HP:0011362 peter 2012-03-01T02:51:40Z True human_phenotype owl:Class NCIT:C84992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721976003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68640004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79468000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:22 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6020002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720826006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732245008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397513003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726543008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717049005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN030594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48644003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445227008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3711380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47452006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0702159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:482072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405810005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C102897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS134600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17024001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN580795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:223713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:49382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763715007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699254009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011910 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1C tmpak2llvmy_mondo_relaxed.owl MONDO:0019947 UMLS:C1832567|Orphanet:265|ICD10:G71.0|MESH:C563362|NCIT:C148318|DOID:0110302|GARD:0012527|SCTID:719986000|OMIM:607801 True owl:Class SNOMEDCT:719986000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018290 biolink:NamedThing obsolete congenital disorder of glycosylation with cardiac malformation as a major feature tmpak2llvmy_mondo_relaxed.owl CDG with cardiac malformation as a major feature MONDO:outOfScope Orphanet:371183 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MESH:C564970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254677004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95268002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000671.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3152251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733418003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53417006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84209002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/307300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24700007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711406009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005569 biolink:NamedThing obsolete cartilage disease Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). tmpak2llvmy_mondo_relaxed.owl disease of cartilage tissue|cartilage tissue disease or disorder|cartilage disorder|disorder of cartilage tissue|chondropathy|disease or disorder of cartilage tissue|cartilage tissue disease out of scope DOID:1222|EFO:0005802|UMLS:C0007302|ICD10:M91-M94|SCTID:50927007|ICD10:M94.9|MESH:D002357|ICD9:733.99 Reason: grouping class. MONDO_0003900 True https://github.com/monarch-initiative/mondo/issues/3576 owl:Class SNOMEDCT:253006001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403780007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59981001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32916005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363510005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236461000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126707007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3711385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5963005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200920000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024646 biolink:NamedThing obsolete refractory tmpak2llvmy_mondo_relaxed.owl HP:0031375 UMLS:C1514815|NCIT:C39752 True owl:Class UMLS:C1514815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C42059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020614 biolink:NamedThing obsolete blood group--lutheran system tmpak2llvmy_mondo_relaxed.owl BLOOD GROUP--LUTHERAN SYSTEM|LU|Auberger System OMIM:111200 True owl:Class https://omim.org/entry/111200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN895594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2919304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021007 biolink:NamedThing obsolete stage of disease tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1333791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363351006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239918008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:164004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2589008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402773000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0546996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9092004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:34736002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39112005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11442006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111571009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:413446001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:96266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS268400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3839685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/allergic_form_of_disease.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719044008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:54251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703522009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73998008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009317 biolink:NamedThing obsolete nonphotosensitive trichothiodystrophy A trichothiodystrophy that is non-photosensitive tmpak2llvmy_mondo_relaxed.owl obsolete in Orphanet Orphanet:1245 MONDO:0018053 True https://github.com/monarch-initiative/mondo/issues/2852 owl:Class ORPHA:1245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:D065634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92612007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724207001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001807 biolink:NamedThing obsolete familial combined hyperlipidemia A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. tmpak2llvmy_mondo_relaxed.owl combined hyperlipidemia|mixed hyperlipidemia|mixed hyperlipoproteinemia|mixed hyperlipidaemia|combined hyperlipoproteinemia|familial combined hyperlipidemia (disorder) [ambiguous]|familial multiple lipoprotein-type hyperlipidemia|hyperbetalipoproteinemia with prebetalipoproteinemia|type IIb hyperlipoproteinemia Orphanet:79211|ICD10:E78.4|ICD9:272.4|MESH:D006950|MedDRA:10027763|DOID:13809|SCTID:238040008|ICD10:E78.2 Obsolete in Orphanet MONDO:0001336 True owl:Class SNOMEDCT:238040008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3745000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254956000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717330004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92643000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN536255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D028361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719213009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128329001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D049932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95678007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN570502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4330531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3807327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238627002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47158003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3897034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717332007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018287 biolink:NamedThing obsolete congenital disorder of glycosylation with epilepsy as a major feature tmpak2llvmy_mondo_relaxed.owl CDG with epilepsy as a major feature MONDO:outOfScope Orphanet:371071 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:C1851858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42094007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008074 biolink:NamedThing obsolete nerve growth factor, alpha subunit tmpak2llvmy_mondo_relaxed.owl nerve growth factor, alpha subunit|NGFA|nerve growth factor, ALPHA SUBUNIT out of scope OMIM:162020 True https://github.com/monarch-initiative/mondo/issues/3358 owl:Class https://omim.org/entry/162020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58275005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19044004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C42057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410055005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363483004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76047005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:226307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715722003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307601000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35065006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57054005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:chebi.owl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448233000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0311284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:596753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10021808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715395008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403977003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254582000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044274 biolink:NamedThing obsolete hemoglobin, high altitude adaptation Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). tmpak2llvmy_mondo_relaxed.owl HALAH|HEMOGLOBIN, high altitude adaptation|Hemoglobin, high oxygen saturation of OMIM:609070 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/609070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4855003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015948 biolink:NamedThing obsolete rare genetic skin vascular disorder tmpak2llvmy_mondo_relaxed.owl genetic skin vascular disorder MONDO:0000001 UMLS:CN200545|Orphanet:183478 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:52441000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10741005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238078005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1331544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/134600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1301362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359554008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19905009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414653009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240447002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN231077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39871006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92784007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN469330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387759001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017274 biolink:NamedThing obsolete autosomal ichthyosis syndrome with other associated signs tmpak2llvmy_mondo_relaxed.owl out of scope 2022-03-01 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947|MONDO:0017270 True owl:Class https://github.com/monarch-initiative/mondo/issues/324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425868004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57917004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS222470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0747533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/307500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:459056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42681006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720499004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312104005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48113006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019987 biolink:NamedThing obsolete congenital and infantile nephrotic syndrome tmpak2llvmy_mondo_relaxed.owl Orphanet:97556 True owl:Class SNOMEDCT:24867002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044221 biolink:NamedThing obsolete blood group--lutheran inhibitor tmpak2llvmy_mondo_relaxed.owl dominant 50U (A-B-) phenotype|INLU|blood group--Lutheran INHIBITOR OMIM:111150 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/553000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409709004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404025004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:172976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763215008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403984006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1301262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230466004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95691008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399326009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:530792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38292009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231931001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255110003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716701004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81000006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702368000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239121009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182067 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715710001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52918004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:50 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0745216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765485000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92634009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70189005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:433691000124104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44250009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55004003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718196002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN800195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:281034005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015983 biolink:NamedThing obsolete rare genetic syndromic intellectual disability Rare genetic syndromic intellectual disability. tmpak2llvmy_mondo_relaxed.owl rare genetic syndromic intellectual disability MONDO:0000508 UMLS:CN226822|Orphanet:183763 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0406425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235908005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS206500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237959005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715422002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:C563961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3711370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:505237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D063748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240626005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253402005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230670003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN238808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195990006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4434006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25766007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16872008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0030016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/204200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111396008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80093006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:317349009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0848866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7522008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715980003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72815004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020802 biolink:NamedThing obsolete basal cell cancer A neoplasm composed of basal cells that metastasizes to other anatomic sites. tmpak2llvmy_mondo_relaxed.owl MONDO:0020804 NCIT:C7586 Obsoleted as it is equivalent to basal cell carcinoma. See https://github.com/monarch-initiative/mondo/issues/2495 True owl:Class https://omim.org/entry/274205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1531773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3494506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275269004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201192006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194269002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000115 biolink:NamedThing definition The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: 2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. definition PERSON:Daniel Schober owl:AnnotationProperty NCBITaxon:parvorder biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3538951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47595008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204962002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720459002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188240003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363426009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410692006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C27142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253038006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181300 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SNOMEDCT:2884008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:29822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016228 biolink:NamedThing obsolete rare vascular tumor Any of the forms of vascular neoplasm that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare vascular neoplasm MONDO:0024296 Orphanet:211237 TODO revise after https://github.com/Orphanet/ORDO/issues/2 UMLS:C0282607 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198462004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47507006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191189009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719520001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255039001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:281561000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363398003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3898569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:386584007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001998 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:0070091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197006009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445513004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C71732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4330695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254064009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/obophenotype/uberon/wiki/inter-anatomy-ontology-bridge-ontologies biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0545080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398067003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3812646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403980002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68618008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:421455009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024297 biolink:NamedThing obsolete nutritional or metabolic disease A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. tmpak2llvmy_mondo_relaxed.owl out of scope UMLS:C0028715|MESH:D009750|ICD10:E00.E90 Editor note: consider expanding to include endocrine MONDO:0005137|MONDO:0005066 True https://github.com/monarch-initiative/mondo/issues/3157 owl:Class MESH:D009750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25225006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6215006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020190 biolink:NamedThing obsolete eyebrow/eyelashes distichiasis tmpak2llvmy_mondo_relaxed.owl Orphanet:98600 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class SNOMEDCT:192701001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254878006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76304001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3805411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719519007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87837008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66207005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN230145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#historic_epidemic biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl classes representing a historic epidemic owl:AnnotationProperty UMLS:C1864791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44452003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2825741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C153174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0852077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699189004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83076007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396347007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423425006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55341008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277522009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82236004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254464000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20957000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703614006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721227001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1704383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:3445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255034006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88232005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3840102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4039413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410056006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254067002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1779005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763739002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:485426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715337002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:58 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29227009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCBITaxon:1980471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:541423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715725001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015680 biolink:NamedThing obsolete rare pervasive developmental disorder Rare pervasive developmental disorder. tmpak2llvmy_mondo_relaxed.owl rare autism spectrum disorder|rare ASD|rare PDD|rare pervasive developmental disorder MONDO:0000594 Orphanet:168778 UMLS:C0524528|ICD10:F84.3|ICD10:F84.2|MedDRA:10061345|ICD10:F84.4|MESH:D002659|ICD10:F84.8|ICD10:F84.9|ICD10:F84.5|ICD10:F84.1|ICD10:F84.0 True https://github.com/Orphanet/ORDO/issues/21|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:168778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:712750007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11010461000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7305005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:89938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26484003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10045545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129623003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:401138005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61665008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719466009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398723007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4416007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:485358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25792000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020207 biolink:NamedThing obsolete rare isolated myopia Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness. tmpak2llvmy_mondo_relaxed.owl MONDO:0001384 UMLS:CN924920|Orphanet:98619 UMLS:C0027092|OMIM:608908|OMIM:614292|OMIM:615431 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10038304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419645003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007347 biolink:NamedThing obsolete Coxsackievirus B3 susceptibility tmpak2llvmy_mondo_relaxed.owl CXB3S|Coxsackievirus B3 susceptibility|Cb3S UMLS:C1861511|OMIM:120050 obsoleted as it represents a susceptibility not a disease True owl:Class https://omim.org/entry/120050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237613005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400128006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42725006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717773005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389158007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400096001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4509819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111584000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118612006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1696109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720950009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28314004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716108004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015475 biolink:NamedThing obsolete rare head and neck malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226686|Orphanet:155832 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372100004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193093009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254084008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D029021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10154 biolink:NamedThing 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SNOMEDCT:277637000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:750009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724093004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN168656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230283005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D029502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237788002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92321003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52486002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717942003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254251003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423607006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83652003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363009005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0000889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN845004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7259005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448286002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000020.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64043005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128612007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766766005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614496 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1328349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57436000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:425003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3830518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205649008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018412 biolink:NamedThing obsolete rare female infertility due to 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7810004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230456007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1736154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34347 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:5394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187658004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54767005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17155009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1442927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015875 biolink:NamedThing obsolete rare non-malformative uterine adnexal disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope 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UMLS:C1865204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1096116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722760002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89454001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C42086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26597004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718224004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0729777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019709 biolink:NamedThing obsolete cleidocranial dysplasia and isolated cranial ossification defect tmpak2llvmy_mondo_relaxed.owl Orphanet:93451 True owl:Class UMLS:C2931404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47014000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3900100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS151660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:472905007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5619004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403661001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80384002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024248 biolink:NamedThing obsolete pityriasis A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) tmpak2llvmy_mondo_relaxed.owl Pityriases ICD9:696.5|SCTID:34630004|MESH:D010915 True owl:Class SNOMEDCT:34630004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:110980006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240104008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49984004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126925009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238735005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:232035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN847586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0476203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274152003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715984007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400131007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1956147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239084001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68092007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:451612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15845006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84241008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718719001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80394007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1318550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204102004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005128 biolink:NamedThing obsolete sensory system disease A disease involving the sensory system. tmpak2llvmy_mondo_relaxed.owl sensory system disease or disorder|sensory system disease|sensory disease|disorder of sensory system|disease of sensory system|disease or disorder of sensory system EFO:0001058|DOID:0050155 True https://github.com/monarch-initiative/mondo/issues/823 owl:Class DOID:0050155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:116021002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399970005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1737210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1719382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017996 biolink:NamedThing obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency tmpak2llvmy_mondo_relaxed.owl Orphanet:329255|UMLS:CN204202 Obsolete in Orphanet MONDO:0009485 True owl:Class ORPHA:329255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196731005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240221008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27420004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:223727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89647000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1527225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:576074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237091009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020030 biolink:NamedThing obsolete rare genetic renal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005240 Orphanet:98056|UMLS:CN206955 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1860849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044253 biolink:NamedThing obsolete dermatoglyphics--palmar triradius d, absence of tmpak2llvmy_mondo_relaxed.owl dermatoglyphics--palmar triradius d, absence of OMIM:221760 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/221760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699802009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1394919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84598000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53602002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:529852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0060649 biolink:NamedThing obsolete short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies tmpak2llvmy_mondo_relaxed.owl MONDO:0100297 Split into OMIMPS and subclass. True https://github.com/monarch-initiative/mondo/issues/2758 owl:Class UMLS:C1857301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189197001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722063009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126978008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:438504004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205260006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82077006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:361133006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47344007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239826001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723611008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77628002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:56970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230502003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768472004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83414005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363459007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763213001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204319006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:290836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254708001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253030004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:406602003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:99077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363409003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:714253009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238639005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416920000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28835009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400142003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020272 biolink:NamedThing obsolete connective tissue disease with eye involvement tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0003900 True owl:Class https://github.com/monarch-initiative/mondo/issues/3594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722292000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12313004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1963002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3463992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702312009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2584777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722294004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186772009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4054526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65593009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1642 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236469003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235914003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718128009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619132 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1841809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C000598645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25784009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1654001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl NCIT:C7224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:271425001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:401046009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:899 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717222003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D061085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13445001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0861352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21061004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80960004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764100007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267369002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765487008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020578 biolink:NamedThing obsolete vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. 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SNOMEDCT:126836001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254627002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763528002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64235006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44782008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1880119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190981001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44882003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32268008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109977009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3838758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C67560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763377006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31537005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo.owl biolink:NamedThing Mondo Disease Ontology A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology. tmpak2llvmy_mondo_relaxed.owl Includes Ontology(OntologyID(Anonymous-51)) [Axioms: 70881 Logical Axioms: 0] 1.2 http://obofoundry.org/ontology/mondo.html http://creativecommons.org/licenses/by/4.0/ OBO:chebi.owl|OBO:hp.owl|https://rarediseases.info.nih.gov/|OBO:doid.owl|OBO:ncbitaxon.owl|https://id.nlm.nih.gov/mesh/|OBO:go.owl|OBO:uberon.owl|OBO:ncit.owl|OBO:envo.owl|OBO:mf.owl|http://www.orpha.net/ontology/orphanet.owl owl:Ontology ORPHA:584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016343 biolink:NamedThing obsolete unclassified cardiomyopathy tmpak2llvmy_mondo_relaxed.owl out of scope Orphanet:217678 MONDO:0004994 True https://github.com/monarch-initiative/mondo/issues/2824 owl:Class NCIT:C7440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1258034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044254 biolink:NamedThing obsolete dermatoglyphics--hypothenar radial arch tmpak2llvmy_mondo_relaxed.owl dermatoglyphics--hypothenar radial arch OMIM:221780 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/221780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12068006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72779005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0260662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717791000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:770406002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230421008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92404006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699867001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52713000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35868009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88594005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3071 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UMLS:C0349530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4520983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:456312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C102979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023174 biolink:NamedThing obsolete follicular lymphoreticuloma tmpak2llvmy_mondo_relaxed.owl GARD:0002357 Editor note: check hodgkin's disease, lymphocyte depletion, reticular True https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma owl:Class ORPHA:1834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719162001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019116 biolink:NamedThing obsolete catecholamine-producing tumor Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). tmpak2llvmy_mondo_relaxed.owl Orphanet:717|UMLS:CN205637 Orphanet obsoleted this MONDO:0021072|MONDO:0015077 True https://github.com/monarch-initiative/mondo/issues/2199 owl:Class UMLS:CN205637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/170400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237950009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719254001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719521002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41345002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83605009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS187300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126885006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231857004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403938001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4539685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5300004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:60025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78129009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768667002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C71719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0859920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10041490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:60003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000773 biolink:NamedThing obsolete Timothy grass allergy A allergy involving a Phleum pratense. tmpak2llvmy_mondo_relaxed.owl Phleum pratense caused allergic disease|Phleum pratense allergic disease|allergy of Phleum pratense MONDO:outOfScope DOID:0060498 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715780008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276952000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:102448004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417067005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0236642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239088003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:89841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001253 biolink:NamedThing obsolete solar retinopathy tmpak2llvmy_mondo_relaxed.owl solar retinitis DOID:11282|ICD9:363.31|SCTID:1135000|UMLS:C0152131|ICD10:H31.02 True owl:Class DOID:11282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:C564589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2717750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109477002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70065001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86103006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254980001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188264002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS616263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239031000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN757797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70422006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41788008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33979003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126909004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716245003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS164280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276509008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50715003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74851005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14046000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:456298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:485405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766710005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722468005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:290653008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444374006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424952003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766704005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402782006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723333000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0012294 biolink:NamedThing obsolete drug metabolism, poor, Cyp2C19-related tmpak2llvmy_mondo_relaxed.owl Proguanil, poor metabolism of|drug metabolism, poor, Cyp2C19-related|Mephenytoin, poor metabolism of|clopidogrel, poor metabolism of|Opremazole, poor metabolism of|Omeprazole, poor metabolism of GARD:0012906|UMLS:C1836023|OMIM:609535 True owl:Class UMLS:C1836023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000803 biolink:NamedThing obsolete tiger prawn allergy A allergy involving a Penaeus monodon. tmpak2llvmy_mondo_relaxed.owl Penaeus monodon allergy|allergy of Penaeus monodon|Penaeus monodon allergic disease|Penaeus monodon caused allergic disease MONDO:outOfScope DOID:0060528 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/124900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38528001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20018005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:83 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40930008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719449007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015965 biolink:NamedThing obsolete rare genetic refraction anomaly tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:183601|UMLS:CN226813 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1842464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312133006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0887846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000785 biolink:NamedThing obsolete peach allergy A allergy involving a Prunus persica. tmpak2llvmy_mondo_relaxed.owl Prunus persica allergic disease|allergy of Prunus persica|Prunus persica caused allergic disease|Prunus persica fruit allergy MONDO:outOfScope DOID:0060510 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721881008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS158600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240699006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715406003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768556005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307610008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371964008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719686003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234582006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1704778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230187000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:D000086382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020243 biolink:NamedThing obsolete colobomatous and areolar dystrophy tmpak2llvmy_mondo_relaxed.owl Orphanet:98665 True owl:Class ORPHA:2826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0029001 biolink:NamedThing obsolete chemically-induced disorder Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. tmpak2llvmy_mondo_relaxed.owl disorders, chemically-induced|chemically-induced disorder|disorder, chemically-induced|chemically induced disorders out of scope MESH:D064419 MONDO:0029000 True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MESH:D064419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44274007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732954002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400201008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109378008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129103003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D034081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018411 biolink:NamedThing obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl rare female infertility due to gonadotropic axis disorder of genetic origin|rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:outOfScope UMLS:CN227354|Orphanet:400011 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class 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tmpak2llvmy_mondo_relaxed.owl ORPHA:702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/autoimmune_inflammation.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73843004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C110923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713577007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29524003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723582004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72275000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725911008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363431006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6494 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253902002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:87876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32893002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80006005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186738001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN769090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313900 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN206933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015954 biolink:NamedThing obsolete rare genetic headache disorder tmpak2llvmy_mondo_relaxed.owl rare genetic headache MONDO:0021146 Orphanet:183509|UMLS:CN226801 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16632002 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:392288006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428061005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050560 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254959007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005150 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34225008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C9305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0580181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS239300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20639004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721146009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C4082167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1136033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86095007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717259002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0072511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/274400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35154004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124204003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3738000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS180500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766238001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90739004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1842382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0004887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C5792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363389001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39621005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716700003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609576002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254652000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733492003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1839577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:758664007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4085595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717826009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448015002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C72074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1704981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254638002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763865009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl HP:0006504 biolink:NamedThing obsolete Anomaly of the limb diaphyses morphology tmpak2llvmy_mondo_relaxed.owl Abnormality of shaft of long bone of the limbs HP:0000940 peter 2008-03-28T06:47:00Z True human_phenotype owl:Class UMLS:CN203788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205824006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0041408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS155600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19754005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#MISSPELLING biolink:NamedThing A synonym that is recorded for consistency with another source but is a misspelling tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C3542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205834002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238031009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/82812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3163622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70195006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4082793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36653000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47916000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443493003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703538003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN037252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16958000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43123004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40956001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699308002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72951007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2004487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236422008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64612002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40070004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN870853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN073087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205130008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5507002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721878003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1735886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:298644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725463007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82272006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717184007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237951008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67531005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015172 biolink:NamedThing obsolete epithelio-exfoliative colitis-deafness syndrome This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. tmpak2llvmy_mondo_relaxed.owl UMLS:CN226615|ICD10:P78.3|Orphanet:103912 Obsolete in Orphanet True owl:Class UMLS:CN226615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193922006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78586005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/224821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92169007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91981009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10026829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82053000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65576009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044242 biolink:NamedThing obsolete mydriasis, congenital tmpak2llvmy_mondo_relaxed.owl mydriasis, congenital OMIM:159420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0015238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class GO:0042910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56453003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C93045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4082937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0555191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/305450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN924920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000009.12 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91390005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443719001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3898472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71325002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699306003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128210009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0006264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396331005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1527231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274144001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446995005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0887833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:708031000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719378009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18109005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191255003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:538931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C135213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63450009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197352008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017166 biolink:NamedThing obsolete rare tumor of salivary glands tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:276142 UMLS:C0036095 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10036445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254437001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445928005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234468009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/232400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83172007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41572006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81271001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717785002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15244003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128123007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725416005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763070001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:361126006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277156006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111030006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763794005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92439006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190745006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717041008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C66830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:C3553816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403767009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721751007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044282 biolink:NamedThing obsolete blood group, vel system The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). tmpak2llvmy_mondo_relaxed.owl blood group, VEL system|VEL|Vel-null phenotype OMIM:615264 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020626 biolink:NamedThing obsolete yt blood group antigen tmpak2llvmy_mondo_relaxed.owl Cartwright Antigen|YT BLOOD GROUP ANTIGEN OMIM:112100 True owl:Class https://omim.org/entry/112100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS174400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2937231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019590 biolink:NamedThing obsolete rare endocrine growth disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206437|Orphanet:90692 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN206437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78960005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63363004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74445007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:471268000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:45650007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57938005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:59306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:761958009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84354 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230461009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363489000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196286005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1707400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720565000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20224008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33760009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:229720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276645004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77333008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236531005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766824003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0023873 biolink:NamedThing obsolete Noonan-like/multiple giant cell lesion syndrome Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. tmpak2llvmy_mondo_relaxed.owl NL/MGCLS OMIM:163955|GARD:0004006 MONDO:0012547|MONDO:0008104 True owl:Class https://omim.org/entry/163955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71912000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4085252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186973005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25374005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2713583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3540450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254896002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3267131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427945008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18241005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:386762009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D021866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45142002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232016005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719098007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1271009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700249006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111499002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3544214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266123003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277574007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188800003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41371000119100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#do_inheritance_inconsistent biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty MESH:C565115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:6610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3541340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D027601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82562007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0917890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59174009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29159009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33313004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26169004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3872848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715864007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29369005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3552304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C174129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449052009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703543005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS305620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12818004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67832005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55408009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255187008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN069134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111354009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230260007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129618003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733082001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4311049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/603806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050986 biolink:NamedThing 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MESH:C564931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11282001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044246 biolink:NamedThing obsolete nystagmus, voluntary Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). tmpak2llvmy_mondo_relaxed.owl NYSTAGMUS, voluntary OMIM:164170 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/164170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719980006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414173003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721165001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719305006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230450001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4316789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254978007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3698541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Maize biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN252657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92336000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5089007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:162521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:54 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0015758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C3280785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10394003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709281006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763273008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700058006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015224 biolink:NamedThing obsolete rare intoxication Any of the forms of poisoning that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare poisoning MONDO:0029000 Orphanet:108999|UMLS:CN226640 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230332007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2699508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721086004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25470000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55995005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:83824009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:450697004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11263005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266238009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65172003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126834003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C49107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54576000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53333005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302837001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5262007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3278138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C146639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65295003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201864 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C000600608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410042009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3899675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721207002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707276009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59277005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126908007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:208061000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D025063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9062008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:249491000119100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277577000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019275 biolink:NamedThing obsolete other genetic epidermal disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205922|Orphanet:79360 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C4225395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732959007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399948007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020618 biolink:NamedThing obsolete blood group--private systems tmpak2llvmy_mondo_relaxed.owl antigenic Determinants of Low Frequency in the Population|BLOOD GROUP--PRIVATE SYSTEMS OMIM:111500 True owl:Class https://omim.org/entry/111500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403983000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253783001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10045855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699955004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2973725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4082198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238640007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31996006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3160906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111322000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:453510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000672.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1533041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718848000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73328005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1515008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230594005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764522009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C141424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:504476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015124 biolink:NamedThing obsolete rare adrenal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005495 Orphanet:101954 UMLS:C0001621 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17093002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723556008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239087008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044261 biolink:NamedThing obsolete menoq1 tmpak2llvmy_mondo_relaxed.owl MENOQ1|menopause, natural, AGE AT, quantitative trait locus 1 OMIM:300488 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/300488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:187681002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24043009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:84085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400080004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724065003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17653001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86044005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703369003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25674000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57160007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719575008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/307830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47040006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0040414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718218005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38196001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404083008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015173 biolink:NamedThing obsolete autoimmune enteropathy type 2 tmpak2llvmy_mondo_relaxed.owl Orphanet:103916|ICD10:K52.8|UMLS:CN226616 Obsolete in Orphanet Orphanet:522043 True owl:Class ORPHA:103916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000008.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000501 biolink:NamedThing obsolete Jensen syndrome tmpak2llvmy_mondo_relaxed.owl opticoacoustic nerve atrophy with dementia|syndrome of opticoacoustic nerve atrophy with dementia|Opticoacustic nerve atrophy with dementia|Jensen syndrome|deafness-opticoacoustic nerve atrophy-dementia syndrome|nerve deafness optic nerve atrophy, and dementia MONDO:0010578 GARD:0003046|MESH:C537568|DOID:0050867|UMLS:C1839564 True https://rarediseases.info.nih.gov/diseases/3046/jensen-syndrome owl:Class UMLS:C1839564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019894 biolink:NamedThing obsolete non-distal monosomy 7p tmpak2llvmy_mondo_relaxed.owl non-telomeric monosomy 7p|non-distal monosomy type 7p|non-distal deletion 7p Orphanet:96136|ICD10:Q93.5 Obsolete in Orphanet MONDO:0016889 True owl:Class ORPHA:96136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74400008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044283 biolink:NamedThing obsolete body mass index quantitative trait locus 18 tmpak2llvmy_mondo_relaxed.owl BMIQ18|body MASS index quantitative trait locus 18|obesity, susceptibility to OMIM:615457 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24069003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12957008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C138179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1175175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:555905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65764006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127014009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C63324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86073008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43878008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:9 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363482009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4311046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1368903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1802405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010301 biolink:NamedThing obsolete thrombocythemia, X-linked tmpak2llvmy_mondo_relaxed.owl obsoleted in source MONDO:0019111 True owl:Class https://github.com/monarch-initiative/mondo/issues/3172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34801009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398197009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS201000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:525731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254083002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715560009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5587004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015320 biolink:NamedThing obsolete Pierre Robin syndrome associated with a chromosomal anomaly tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class ORPHA:627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39427000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0860251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:155878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89980009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399329002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73221001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719684000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425740005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3540844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3662057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719834005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724841000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C5450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72409005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71906005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402135006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:13778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5217008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702375004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:431034009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302162004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50143004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31848007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723720008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41659003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1319317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88975006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044976 biolink:NamedThing obsolete disease of catalytic activity tmpak2llvmy_mondo_relaxed.owl enzyme disorder|enzymopathy out of scope UMLS:C0520572|SCTID:78548001 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class MESH:C567767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2732890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702575003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232262007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733046006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194995005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48008009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190512008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020200 biolink:NamedThing obsolete conjunctival hemangioma or hemolymphangioma tmpak2llvmy_mondo_relaxed.owl Orphanet:98612 Obsolete in Orphanet MONDO:0006170 True owl:Class ORPHA:98612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016766 biolink:NamedThing obsolete rare lichen planus Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. tmpak2llvmy_mondo_relaxed.owl rare LP|rare lichen planus MONDO:0006572 GARD:0012344|Orphanet:254367 UMLS:C0023646|ICD10:L43.3|ICD10:L43.0|ICD10:L66.1|ICD10:L43.2|ICD10:L43.1|ICD10:L43.9|ICD10:L43.8 True https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN203145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10030308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33820001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C66776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237850008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30265004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS128100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044239 biolink:NamedThing obsolete median-ulnar nerve communications tmpak2llvmy_mondo_relaxed.owl Martin-Gruber Median-ulnar anastomosis|median-ulnar nerve communications OMIM:155150 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/155150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69116000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424795008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237964009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237770005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17890003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48236007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403818001 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398680004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46659004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN233040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#DEPRECATED biolink:NamedThing A synonym that is historic and discouraged tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN227180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719430008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044224 biolink:NamedThing obsolete apocrine gland secretion, variation 1n tmpak2llvmy_mondo_relaxed.owl axillary odor, variation 1N|wet wax|Ear wax, wet/dry|apocrine gland secretion, variation IN|colostrum secretion, variation 1N|cerumen, variation 1N OMIM:117800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/117800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3839782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/551200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713886006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237977000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766933000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764845008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254756007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110064 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:14225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764524005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65778007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197315008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1168401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C86917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44917000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89907009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D025861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000789 biolink:NamedThing obsolete Atlantic cod allergy A allergy involving a Gadus morhua. tmpak2llvmy_mondo_relaxed.owl allergy of Gadus morhua|Gadus morhua allergic disease|Gadus morhua fish allergy|Gadus morhua caused allergic disease MONDO:outOfScope DOID:0060514 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71676008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4152002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92021007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699251001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C4014795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268262006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0112198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702364003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718764004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230298007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93470007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763775000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7731005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715535009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:478049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000805 biolink:NamedThing obsolete snail allergy A allergic disease involving a snail food product. tmpak2llvmy_mondo_relaxed.owl allergy of snail food product|snail food product allergic disease MONDO:outOfScope DOID:0060530 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70910003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:840539006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:432504007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0917715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:500095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733037000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703527003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733466005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1304514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359725000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47903000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768935003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254825007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723508002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118935006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0086647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48449000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN072763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565594 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0334325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C66760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363353009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698849002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34368 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26918003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55056006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:685 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tmpak2llvmy_mondo_relaxed.owl DOID:3527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80936003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718753002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68272006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399730005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698279003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015968 biolink:NamedThing obsolete rare genetic hypothalamic or pituitary disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:183628|UMLS:CN200567 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0090046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/279000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47099006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1455735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044256 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 5 tmpak2llvmy_mondo_relaxed.owl SHEP5|skin/hair/eye pigmentation, variation IN, 5|skin/hair/eye pigmentation 5, dark/Light eyes|skin/hair/eye pigmentation 5, Black/nonblack hair|skin/hair/eye pigmentation 5, dark/fair skin OMIM:227240 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/227240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763479005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:99131000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62950007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/110000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187752007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17342003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92319008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4049993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77252004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007602 biolink:NamedThing obsolete favism, susceptibility to tmpak2llvmy_mondo_relaxed.owl favism, susceptibility to|moved to {300908} OMIM:134700 MONDO:0010480 True owl:Class https://omim.org/entry/134700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:17 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3873357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58170007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409562009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34840004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253878003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126955002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016134 biolink:NamedThing obsolete rare hereditary systemic disease with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200898|Orphanet:207021 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:207021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255102004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240161003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:cl#BDS_subset biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C36408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19721008 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205306000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64852002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92691004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015125 biolink:NamedThing obsolete rare thyroid disease Rare thyroid disease. tmpak2llvmy_mondo_relaxed.owl rare thyroid disease|rare thyroid gland disease MONDO:0003240 Orphanet:101955 UMLS:C0040128 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C5449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85579005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48241004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#implicit_genetic_in_ordo biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl in ORDO this is classified as genetic even though the class is used for non-genetic disorders owl:AnnotationProperty MESH:C537453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:422833009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719800009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0544008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS121200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254634000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2939461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1265997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN570505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719164000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS137800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278697001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22066006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020011 biolink:NamedThing obsolete rare headache disorder Rare headache disorder. tmpak2llvmy_mondo_relaxed.owl rare headache disorder|rare headache MONDO:0021146 Orphanet:98022 UMLS:C0393735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716107009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359609001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236811000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95462004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:226292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254249002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN902090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050562 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:9358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95435007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:473010000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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SNOMEDCT:56627002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127030001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:255210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240305000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414916001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4049066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55912009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19429009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721759009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017371 biolink:NamedThing obsolete rare head and neck tumor Rare head and neck neoplasia. tmpak2llvmy_mondo_relaxed.owl rare head and neck neoplasm|rare head and neck neoplasia MONDO:0005586 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SNOMEDCT:363045008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716594002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239892009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080461 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87049008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717941005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191156009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000234 biolink:NamedThing ontology term requester The name of the person, project, or organization that motivated inclusion of an ontology term by requesting its addition. tmpak2llvmy_mondo_relaxed.owl The 'term requester' can credit the person, organization or project who request the ontology term. Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg ontology term requester Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg owl:AnnotationProperty https://omim.org/phenotypicSeries/PS213600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192877007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4084712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16652001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763835004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62727008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609574004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019937 biolink:NamedThing obsolete rare gynecologic or obstetric disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:96344|UMLS:CN206853 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1850081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22455005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0795887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197268000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007521 biolink:NamedThing obsolete egasyn tmpak2llvmy_mondo_relaxed.owl esterase 22|egasyn OMIM:129905 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/129905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40733004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92264007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254097005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78537008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4082174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:304737009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0400978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200994002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186867005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020168 biolink:NamedThing obsolete kinetic eyelid anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:98577 Obsolete in Orphanet MONDO:0003382 True owl:Class ORPHA:98577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3805375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89684003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19579005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0395818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700056005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79855003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10055046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716996008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3805879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3327 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:14489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722762005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763132003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017458 biolink:NamedThing obsolete postaxial polydactyly of toes tmpak2llvmy_mondo_relaxed.owl postaxial polydactyly of foot ICD10:Q69.2|SCTID:205133005|GARD:0012770|Orphanet:295008 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763861000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254145001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843292 biolink:NamedThing 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https://omim.org/entry/305400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82639001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722281001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725048002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713498009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4321247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001679 biolink:NamedThing obsolete crater-like holes of optic disc tmpak2llvmy_mondo_relaxed.owl crater-like optic disc holes ICD9:377.22|DOID:13295 Obsolete as represents a phenotypic feature/finding (todo: add to HPO) True owl:Class DOID:13295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D062689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307502000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2584778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23986001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118946009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53619000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22905009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766707003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400211001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722201004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764619001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:92050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86489003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60086000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721764008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22716005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363413005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766752000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:301086002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95531001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197679002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044229 biolink:NamedThing obsolete epiblepharon of lower 51d tmpak2llvmy_mondo_relaxed.owl epiblepharon of lower lid OMIM:131450 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/131450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254819008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/171100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31248004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56663002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707359008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254939008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194268005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699318007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238011005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0475269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711155008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68575007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1096155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015966 biolink:NamedThing obsolete hereditary eye tumor tmpak2llvmy_mondo_relaxed.owl genetic eye tumor UMLS:CN200566|Orphanet:183619 True owl:Class https://omim.org/entry/607628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609329007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044222 biolink:NamedThing obsolete blood group, p1pk system tmpak2llvmy_mondo_relaxed.owl blood group, P1PK system|Nor Polyagglutination syndrome|P1(K) phenotype|P2(K) phenotype|P(1) phenotype|P(2) phenotype|P phenotype OMIM:111400 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193250 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124214007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719400000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276701009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713315007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312428002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722075004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67383002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1510437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707747007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417006004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702358005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007798 biolink:NamedThing obsolete adult hypophosphatasia Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. tmpak2llvmy_mondo_relaxed.owl hypophosphatasia of adults|obsolete adult hypophosphatasia|hypophosphatasia, ADULT|odontohypophosphatasia|adult Rathburn disease|hypophosphatasia, mild|mild hypophosphatasia|adult phosphoethanolaminuria out of scope DOID:0110913|Orphanet:247676|SCTID:20756002|OMIM:146300|UMLS:C0268413|ICD10:E83.3 MONDO:0600011|MONDO:0600010|MONDO:0600009 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class DOID:0110913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4086533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64678009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53913001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716682000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363451005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1258222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274902006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37075008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429233001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS189800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403996004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123844007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:54247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS245590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75164001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53084003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445492005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:706970001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15033003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:303012000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:445018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716699004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443520009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2212024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9091006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423709000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C67090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66760008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404071006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN230089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200946001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37283009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399165002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1513718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254889004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34730008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11806006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698870008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76043009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399088004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D064726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403762003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238762002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C68677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:269476000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3898222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D029593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:473418001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32230006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28867007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000742 biolink:NamedThing obsolete persistent generalized lymphadenopathy tmpak2llvmy_mondo_relaxed.owl PGL HP:0008940 SCTID:95892003|DOID:0060314 True owl:Class DOID:0060314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707609006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763370008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D044483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D040181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79665007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235889003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0044699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:2874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254164007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN033288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93466004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000067559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34004002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0687140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2980104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5371001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13758004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2717865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0033571 biolink:NamedThing obsolete skeletal muscle glycogen content and metabolism quantitative trait locus tmpak2llvmy_mondo_relaxed.owl SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS|SMGMQTL OMIM:619030 Not a disease. True https://github.com/monarch-initiative/mondo/issues/2260 owl:Class https://omim.org/entry/619030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236533008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0302362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715988005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427685000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84759007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018032 biolink:NamedThing obsolete constitutional neutropenia with extra-hematopoietic manifestations tmpak2llvmy_mondo_relaxed.owl Orphanet:331184 True owl:Class DOID:5182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65937002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236403004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:433068007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447782002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D024821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45864009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2314896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416769008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000776 biolink:NamedThing obsolete metal allergy A allergy involving a metal allergen. tmpak2llvmy_mondo_relaxed.owl allergy of metal allergen|metal allergen allergic disease MONDO:outOfScope DOID:0060501|SCTID:300915004|UMLS:C0577627 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class UMLS:C0577627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73757007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10046851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018557 biolink:NamedThing obsolete rare genetic autonomic nervous system disorder Rare genetic autonomic nervous system disease. tmpak2llvmy_mondo_relaxed.owl rare genetic autonomic nervous system disease MONDO:0001292 Orphanet:434786|UMLS:CN237558 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/613290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126966009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:316235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402427003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS167320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN119531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359732009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563557 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1847967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128083007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS226400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0175694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27215002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190268003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS169150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3892039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82146006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403970001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3550789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32390006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044238 biolink:NamedThing obsolete lunulae of fingernails tmpak2llvmy_mondo_relaxed.owl lunulae of fingernails OMIM:152600 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/152600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716098006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0700299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186803007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3540453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763623001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36193003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373945007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017653 biolink:NamedThing obsolete epilepsy and/or ataxia with myoclonus as major feature tmpak2llvmy_mondo_relaxed.owl Orphanet:306756 True owl:Class MONDO:0018700 biolink:NamedThing obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy tmpak2llvmy_mondo_relaxed.owl Orphanet:457062 True owl:Class MESH:D020195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0848548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237929000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537786 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88887003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717257000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3640823 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49882001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015510 biolink:NamedThing obsolete rare genetic respiratory disease Rare genetic respiratory system disease. tmpak2llvmy_mondo_relaxed.owl rare genetic respiratory system disease MONDO:0005087 Orphanet:156610|UMLS:CN199643 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C67453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020262 biolink:NamedThing obsolete nervous system anomaly with eye involvement tmpak2llvmy_mondo_relaxed.owl Orphanet:98692 True owl:Class ORPHA:98692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23097003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:62 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36207 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tmpak2llvmy_mondo_relaxed.owl DOID:0060604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1631597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186788009 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN242170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:303070000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:408663001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57809008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403939009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715371006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26125006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204464007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS619142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23680005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35912001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697993003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202175 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl NCIT:C127169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30288003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8829008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6395007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11314008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:356978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86157004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703403003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76593002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN204097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237822008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129133005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D043604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69878008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MESH:C580439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233878008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403967000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47597000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000673.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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ORPHA:99672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126949007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2053820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763345008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193683001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721836009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:565858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615527 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57863006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238026007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0497538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59753003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0542564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:440350001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84849002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73363000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402524007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/222500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23056005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237923004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733625003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004391 biolink:NamedThing obsolete adult extraosseous chondrosarcoma A extraosseous chondrosarcoma that occurs in an adult. tmpak2llvmy_mondo_relaxed.owl extraosseous chondrosarcoma of adults DOID:7902 NCIt recommended obsoletion of the parent class. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:7902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707671008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS262400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000684.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:226298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1394891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90935002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95663000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN536248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57138009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719212004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277918006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3147083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS303350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26121002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS143880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45007003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445406001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764999002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254886006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS215100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58718002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78373000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36921006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2212006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D023981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444558002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33655002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363449006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:125605004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418143002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:164736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74578003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS120970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722947004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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SNOMEDCT:415125002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718192000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92560002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334451 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720987001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186668002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274100004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:42665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723442008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237683004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3501846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016234 biolink:NamedThing obsolete rare arteriovenous malformation Rare arteriovenous malformation. tmpak2llvmy_mondo_relaxed.owl rare arteriovenous malformation|rare arteriovenous hemangioma/malformation MONDO:0001256 Orphanet:211266|UMLS:CN226888 UMLS:C0334533|MESH:D001165|ICD10:Q27.3|UMLS:C0003857|MedDRA:10003193 True 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0085409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187058000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/303400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732933009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57643001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70650003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31541009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2211850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232208008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722035007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707441009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70764005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277158007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0457014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721200000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008204 biolink:NamedThing obsolete patella aplasia, coxa vara, and tarsal synostosis tmpak2llvmy_mondo_relaxed.owl patella aplasia, coxa vara, and tarsal synostosis OMIM:168850|MESH:C536307 MONDO:0007841 True owl:Class https://omim.org/entry/168850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95488 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tmpak2llvmy_mondo_relaxed.owl DOID:0050662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:697908003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS233300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397568004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS178600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044220 biolink:NamedThing obsolete blood group, 1 system tmpak2llvmy_mondo_relaxed.owl I blood Group system|adult I phenotype|blood group, I system|II blood Group system|II OMIM:110800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/110800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230410004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48611009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716651004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN510468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402587003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3890168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46252003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722055008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26899006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72211003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726621009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126686005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3900122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723820001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699356008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70405009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/110050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29212009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73391008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4017065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717824007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000017.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254958004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4012409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726608002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4012597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111475002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020784 biolink:NamedThing obsolete short sleep, familial natural, 1 tmpak2llvmy_mondo_relaxed.owl Short Sleep Phenotype|FNSS1|SHORT SLEEP, FAMILIAL NATURAL, 1 OMIM:612975 True owl:Class https://omim.org/entry/612975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS312170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268229003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238062008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86252004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92531006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763311001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:37553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363458004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN679647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3549845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126817006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47523006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699688008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1318558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3875286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69550000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91968002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0677779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3536715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:290839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021665 biolink:NamedThing obsolete Refsum disease A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. tmpak2llvmy_mondo_relaxed.owl NCIT:C85043 This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common. MONDO:0009958 True owl:Class NCIT:C85043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3502055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186807008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020786 biolink:NamedThing obsolete short sleep, familial natural, 2 tmpak2llvmy_mondo_relaxed.owl SHORT SLEEP, FAMILIAL NATURAL, 2|FNSS2 OMIM:618591 True owl:Class https://omim.org/entry/618591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020755 biolink:NamedThing obsolete heart block tmpak2llvmy_mondo_relaxed.owl SCTID:233916004 HP:0012722 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class UMLS:C1857493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017539 biolink:NamedThing obsolete postaxial polydactyly of toes, unilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295179|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253781004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71659009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449730005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/247950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23735003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03420174 biolink:NamedThing obsolete: part of plant Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant. tmpak2llvmy_mondo_relaxed.owl True http://langual.org owl:Class SNOMEDCT:50620007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25501002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718849008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37373007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722849002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS130000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0859036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765486004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10623005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85551004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8912009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198029003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54097007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720604008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN818986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204878001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363443007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126853008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015318 biolink:NamedThing obsolete Pierre Robin syndrome associated with collagen disease tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class ORPHA:211062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C70549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720639008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237610008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19265001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS223360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253904001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72083004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:243367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35919005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92132009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81308009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0086648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268058007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187675005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:142811000119104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763462004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448045004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:482606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439822 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SNOMEDCT:76670001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238931006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73097000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN842244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010254 biolink:NamedThing obsolete hematopoietic stem cell kinetics, control of tmpak2llvmy_mondo_relaxed.owl hematopoietic stem cell kinetics, control of OMIM:300129 True owl:Class https://omim.org/entry/300129 biolink:NamedThing 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DOID:136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D021782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D031249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0178829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268185002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715752006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018887 biolink:NamedThing obsolete rare cutaneous lupus erythematosus Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). tmpak2llvmy_mondo_relaxed.owl rare cutaneous lupus erythematosus MONDO:0005282 Orphanet:535 MESH:D008178|MedDRA:10056509|ICD10:L93.0|ICD10:L93.1|ICD10:L93.2|UMLS:C0024137 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240842000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86188000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400190005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719172003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267426009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22155002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268158009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0302182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3218000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044219 biolink:NamedThing obsolete blood group, duffy system The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). tmpak2llvmy_mondo_relaxed.owl Plasmodium vivax, resistance to|FY|Duffy blood Group system|blood group, DUFFY system OMIM:110700 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/110700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717331000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419097006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49558004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763617006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44245003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010601 biolink:NamedThing obsolete gynecomastia, familial An instance of gynecomastia that is caused by an inherited modification of the individual's genome. tmpak2llvmy_mondo_relaxed.owl gynecomastia, familial|hereditary gynecomastia UMLS:C1844375|OMIM:306500|MESH:C564416 Obsoleted in OMIM MONDO:0010720|MONDO:0007690 True https://github.com/monarch-initiative/mondo/issues/1695 owl:Class MESH:C564416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:93424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017159 biolink:NamedThing obsolete syndrome with pulmonary hypertension as a major feature tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN202581|Orphanet:275853 True https://github.com/monarch-initiative/mondo/projects/6|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN202581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019847 biolink:NamedThing obsolete congenital adrenal hypoplasia of maternal cause tmpak2llvmy_mondo_relaxed.owl Orphanet:95701|ICD10:E27.1 Deprecated in Orphanet. MONDO:0010264 True owl:Class ORPHA:95701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253143001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16424000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63247009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007960 biolink:NamedThing obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome tmpak2llvmy_mondo_relaxed.owl terms split MONDO:0100354 True https://github.com/monarch-initiative/mondo/issues/3154 owl:Class https://omim.org/phenotypicSeries/PS153840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92668003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29570005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3669395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN033130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118926004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1776003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN234898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43064006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63691004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63137003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9491003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1282971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0748397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64572001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720507006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74942003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54675009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312937006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21381006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#EXCLUDE biolink:NamedThing Synonym to be removed from public release but maintained in edit version as record of external usage tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/609954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295148 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4085873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764623009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238027003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/303650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN118840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766934006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:269515006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85051008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722476007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3698136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050610 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tmpak2llvmy_mondo_relaxed.owl ORPHA:1121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19362000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11399002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS260400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397932003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014763 biolink:NamedThing obsolete Bombay phenotype tmpak2llvmy_mondo_relaxed.owl para-Bombay phenotype|Reunion variant out of scope OMIM:616754 True https://github.com/monarch-initiative/mondo/issues/2942 owl:Class https://omim.org/entry/616754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:735082004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008697 biolink:NamedThing obsolete acetophenetidin sensitivity tmpak2llvmy_mondo_relaxed.owl Acetophenetidin sensitivity OMIM:200300 True owl:Class https://omim.org/entry/200300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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MESH:C536919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:38 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000676.2 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49351009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:25980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404033003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404120006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56805008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722057000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28975000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82852009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720518006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0518988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1710096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:269533000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54336006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7620006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2945695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72965009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47374004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:8927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702431004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1368910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768846004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:767713001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129154003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109844006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57190000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715524004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726342002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56819008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254767008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402249007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231826004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C137957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:400008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723406000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31297008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:10 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21857006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1378703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86081009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187723009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C153178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88854002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61493004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197821004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1562817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278050001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240379005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1879344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23414001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:385482004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237705001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4639008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4013948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201191004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32883009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7119001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766980008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15566009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72880002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93235007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044214 biolink:NamedThing obsolete androstenone, ability to smell tmpak2llvmy_mondo_relaxed.owl ANDROSTENONE, ability to smell OMIM:105570 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/105570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2776000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439361000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373643003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/183700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015297 biolink:NamedThing obsolete microcephaly-digital anomalies-intellectual disability syndrome tmpak2llvmy_mondo_relaxed.owl Kelly-Kirson-Wyatt syndrome ICD10:Q87.8|UMLS:CN199250|Orphanet:137653 Obsolete in Orphanet MONDO:0009622 True owl:Class UMLS:CN199250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:434786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS235510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66999008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719583002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:626004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707310009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254865006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2355645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237706000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C82833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13980006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191172001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363497007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715800000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015890 biolink:NamedThing obsolete rare disorder with congenital hypogonadotropic hypogonadism tmpak2llvmy_mondo_relaxed.owl rare disorder with secondary hypogonadism|rare disorder with hypogonadotropic hypogonadism MONDO:outOfScope Orphanet:181387 UMLS:C0271623 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D009137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72682008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254185007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59708000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018040 biolink:NamedThing obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells tmpak2llvmy_mondo_relaxed.owl Orphanet:331240 This is a grouping class from Orphanet that only had a single child, and was undefined. MONDO_0003947 True https://github.com/monarch-initiative/mondo/issues/1667 owl:Class MESH:C567527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3683483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403912001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717185008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717954003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302829009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75860007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83664006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/239350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205465004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:544254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276870001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0578870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2349425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43152001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:718179003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371015003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195759002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402479002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0044212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C4225200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044245 biolink:NamedThing obsolete nailbeds, pigmentation of tmpak2llvmy_mondo_relaxed.owl NAILBEDS, pigmentation OF OMIM:161100 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/161100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C138173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414783007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11938002 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SNOMEDCT:724179008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255166003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016138 biolink:NamedThing obsolete malignant lymphoma with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl Orphanet:207046 True owl:Class MESH:D013625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187100 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188988008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723443003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18121009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24752008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17382005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230423006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78004001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201195008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0028737 biolink:NamedThing obsolete biliary atresia disorder tmpak2llvmy_mondo_relaxed.owl redundant Orphanet:498345|HP:0005912 MONDO:0008867 True https://github.com/monarch-initiative/mondo/issues/2717 owl:Class ORPHA:498345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1368275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1301357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57777000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703310005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/545000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233916004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN159238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703254001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2674219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1384641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68566005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88264003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233858000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14821001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49915006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:415764005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21009004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205131007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0333693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C72069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D034321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763803004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:55595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196542004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1299237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59178007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1301048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0086650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14901003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722004001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS269500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:928000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:225154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28783002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126954003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277569004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:270889005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:8 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105713003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:297226004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1960543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267550008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240131006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725291001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28244003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:237113009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23096007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019298 biolink:NamedThing obsolete rare urticaria Rare urticaria. tmpak2llvmy_mondo_relaxed.owl rare urticaria|rare urticaria (disease)|rare hives MONDO:0005492 Orphanet:79384 This class may be obsoleted in future. Note that ORDO classifies this as rare allergic disease, but urticara may be autoimmune UMLS:C0042109 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1333448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231896005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85919009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237877004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:562509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719397009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235110008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52404001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74928006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1306573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126977003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1869122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717254007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109492001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1384408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52674009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26409005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11226001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8933000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50921008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92100009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015881 biolink:NamedThing obsolete gastroesophageal tumor A tumor involving the gastroesophageal tissue. tmpak2llvmy_mondo_relaxed.owl rare gastroesophageal tumor Orphanet:180821|UMLS:CN200488 Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist. True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1760 owl:Class SNOMEDCT:721973006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS194070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS211600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:498497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23260002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302820008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12337004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C170436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2212014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1562894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715985008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59252009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238047006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1073003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:44 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo/patterns/primary_infectious.yaml biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60389000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253737007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25065001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402792003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/307200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716278005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724144006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204368006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1578917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D00007727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/152300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS192600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276804009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721834007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613762 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84048006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:35237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/131200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234422006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721840000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232039004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58750007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3840076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254987003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715369006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0400964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:445110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1306794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231930000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254219004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0100001 biolink:NamedThing term replaced by Use on obsolete terms, relating the term to another term that can be used as a substitute tmpak2llvmy_mondo_relaxed.owl Add as annotation triples in the granting ontology Person:Alan Ruttenberg term replaced by Person:Alan Ruttenberg owl:AnnotationProperty SNOMEDCT:254737002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205132000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187622006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719019000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722475006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26460006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266578003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17920008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69015003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13285005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717046003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0862878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80660001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015917 biolink:NamedThing obsolete malignant glioma tmpak2llvmy_mondo_relaxed.owl MONDO:0100342 Moved Orphanet equiv dbxref to parent class (glioma). Therefore obsoleted this term and created a new term that is not equiv to Orphanet:182067. 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51244008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl doi:10.1186/s13326-017-0126-0 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766979005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448990005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68815009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715471007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6111009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84801008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1567741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276672007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:572013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39465007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31097004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020139 biolink:NamedThing obsolete early-onset ataxia with dementia tmpak2llvmy_mondo_relaxed.owl Orphanet:98539 True owl:Class https://omim.org/entry/618393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566552 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/238600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69741000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS187950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36866003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:135341000119101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14761 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0038986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85750001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721306009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3577000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73774007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN203392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404032008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4284093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1331535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/239000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14077003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23014006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126705004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189130001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018652 biolink:NamedThing obsolete biological anomaly without phenotypic characterization tmpak2llvmy_mondo_relaxed.owl out of scope Orphanet:447874 This is a biological anomaly and not a disease. 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1843183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233642001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1399354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56882008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439732004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:408856003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2237660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396334002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363393007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26726000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720502000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/540779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719453009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0687154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39288006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40149008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:240085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1533587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:12506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0947939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS153100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30281009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400952003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720830009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253042009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:C1535926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0111052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254864005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725136003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1142491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31712002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721225009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:735686002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42658009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18735004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN282828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92293007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111567006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/172900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21851000119103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020169 biolink:NamedThing obsolete rare disorder with ptosis tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207031|Orphanet:98578 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0861854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45369008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3805239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:465508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9904008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715704001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0005720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:251061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51178009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2680446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52954000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57725006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015502 biolink:NamedThing obsolete pinnae and external auditory canal anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:156243 True owl:Class NCIT:C75483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14535005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75372006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717768004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232297009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718177001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726723004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3148970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020615 biolink:NamedThing obsolete blood group system, landsteiner-wiener tmpak2llvmy_mondo_relaxed.owl LW|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER|Landsteiner-Wiener Blood Group System OMIM:111250 True owl:Class https://omim.org/entry/111250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044271 biolink:NamedThing obsolete bone mineral density quantitative trait locus 1 tmpak2llvmy_mondo_relaxed.owl high bone Mass|BMND1|bone mineral density quantitative trait locus 1|osteoporosis, susceptibility to OMIM:601884 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015901 biolink:NamedThing obsolete rare inherited hyperlipidemia tmpak2llvmy_mondo_relaxed.owl rare hyperlipidemia MONDO:0021187 Orphanet:181422 ICD10:E78.2|ICD10:E78.0|ICD10:E78.3|ICD10:E78.1|ICD10:E78.5|ICD10:E78.4|ICD9:272.4|UMLS:C0020473 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/213700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12579009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235966007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715771008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446079007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43891009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360525006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C107377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720609003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93527005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73144008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724069009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719207000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25897000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399294002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C100051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239032007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237996001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716704007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236818008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702369008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237793004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5562006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726021008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763318007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2853006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201161009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267431006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254961003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4340003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715720006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044974 biolink:NamedThing obsolete disease of supramolecular complex tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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tmpak2llvmy_mondo_relaxed.owl MESH:C538292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:46485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720958002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18718003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402296004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111383007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234446004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449784008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726338000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404029005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS120435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:46488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715428003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720401009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16685009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72789009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721756002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80466000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0740652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719666002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111404004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:557064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254434008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN221574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443492008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0274294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2959585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197661001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720456009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35586003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0475811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371582002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3892048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:C0023462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81854007 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10013023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24629003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8849004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204552001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53783003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:422426003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254601002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190966007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18805001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0043606 biolink:NamedThing obsolete pathologic fracture A traumatic break in an area of bone that has been weakened by another disease process. tmpak2llvmy_mondo_relaxed.owl fracture, pathological|pathologic fractures|pathologic fracture|fracture, pathologic|pathological fractures|spontaneous fractures|pathological fracture|spontaneous fracture|fracture, spontaneous|fractures, pathological|fractures, pathologic HP:0002756 SCTID:268029009|MESH:D005598|NCIT:C3047 This was obsoleted because it is a phenotype and not a disease. True https://github.com/monarch-initiative/mondo/issues/499 owl:Class SNOMEDCT:268029009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C103936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404055006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:576370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723361006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:1008095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82319005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:155899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13266007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10072143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111807001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52448006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7125002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:441456002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68779003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39963006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700467001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718911005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4013426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28689008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN230757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6331000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126869 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tmpak2llvmy_mondo_relaxed.owl DOID:12166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0476122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36485005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13645005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0519030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52089001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:415286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000006.12 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192781003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D062788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715242008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233947005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS311200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88905005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C71720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044264 biolink:NamedThing obsolete radial loop, plain, on right index finger tmpak2llvmy_mondo_relaxed.owl radial loop, plain, ON right index finger OMIM:312200 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/312200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720458005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35455006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10005053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:84 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68504005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763864008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307816004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719139003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128496001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716337006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:301990003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C168755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765197008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0018033 biolink:NamedThing obsolete other immunodeficiency syndromes due to defects in innate immunity tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:331193|UMLS:CN204276 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:2282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0595993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81577001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3662272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14637005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44897000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703270004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56165008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716277000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720511000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82304009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C1535926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403435005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS270300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89579000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58833000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008220 biolink:NamedThing obsolete pepsinogen 3, group 1 tmpak2llvmy_mondo_relaxed.owl pepsinogen I--second locus|pepsinogen 3, group I|PGA3|pepsinogen 3, Group type 1 OMIM:169710 This entity is not a disease. True https://github.com/monarch-initiative/mondo/issues/2521 owl:Class https://omim.org/entry/169710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24704003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238922006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719947004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63402005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1276801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17818006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75544000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000010.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0178830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0685941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238874008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721094006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS242860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703541007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0489967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C67012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:313165001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109995007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719249005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404077005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726610000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230155003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44808001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:20000020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126678005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707756004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4359001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722449007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111210001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399252000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65553006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75614007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720417003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#not_a_disease biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl classes that do not represent diseases owl:AnnotationProperty SNOMEDCT:398316009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:427306008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40122008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402860008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78468005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396232000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0178664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7573000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021195 biolink:NamedThing obsolete disease by cellular process disrupted tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C1837811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28055006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764861005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715903004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0577625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205800003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126680004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724274009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl ORPHA:3355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255071008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0431111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78875003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716092007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68216000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189336000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190437000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70070008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734434007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65038009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1285162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254962005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234541006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D028226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236746000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430478003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN802781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302828001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3662033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11164009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015322 biolink:NamedThing obsolete Pierre Robin syndrome associated with bone disease tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class ORPHA:93548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399068003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363432004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231981005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:11741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:280224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715905006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044277 biolink:NamedThing obsolete uric acid concentration, serum, quantitative trait locus 4 tmpak2llvmy_mondo_relaxed.owl UAQTL4|uric acid concentration, serum, quantitative trait locus 4|gout susceptibility 4 OMIM:612671 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0240903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN016627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/124300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707387004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425127006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN873437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3073006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008656 biolink:NamedThing obsolete benign paroxysmal positional nystagmus tmpak2llvmy_mondo_relaxed.owl term split MONDO:8000018 True owl:Class https://github.com/monarch-initiative/mondo/issues/2686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS158350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129620000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20756002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724226009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254055004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4316913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72124005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016329 biolink:NamedThing obsolete familial syndrome associated with hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0005045 True owl:Class DOID:0090118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0456517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50076003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0178421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363495004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:155838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240196003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0302332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766755003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:ncit#oncotree_slim biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty ORPHA:2673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0457013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN852731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:395505000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31658008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49465005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0040797 biolink:NamedThing obsolete vascular headache An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). tmpak2llvmy_mondo_relaxed.owl vascular headache MESH:D014653|UMLS:C0042376|SCTID:128187005 True owl:Class SNOMEDCT:128187005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS100300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/169545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS191100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418632009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302900006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722379001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716709002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707449006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4531264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022412 biolink:NamedThing obsolete albinism immunodeficiency tmpak2llvmy_mondo_relaxed.owl GARD:0000590 True https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency owl:Class NCIT:C4327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237249000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017631 biolink:NamedThing obsolete rare tumor of gallbladder and extrahepatic biliary tract tmpak2llvmy_mondo_relaxed.owl rare tumor of gallbladder and EBT MONDO:outOfScope UMLS:C0750952|Orphanet:306633 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C537265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:4974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59282003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109333005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:57782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3501891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/546803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN187050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237602007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000023.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS257300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35045004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60970005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64981002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54954004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45414006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719843001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233815004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763133008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715824008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254701007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/489000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:177504007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87628006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68659002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128524007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763209008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428850001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88687001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719011002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721013001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127069007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:43393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400001003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723409007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1563706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46683007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721236002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080635 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11612004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193589009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:271532008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060340 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59818004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82108004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019048 biolink:NamedThing obsolete rare vascular disease Any of the forms of vascular disease that have a rare incidence. tmpak2llvmy_mondo_relaxed.owl rare vascular disease MONDO:0005385 Orphanet:68362 UMLS:C0042373 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720850008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20343006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4053736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128605003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0234398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232461002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0577620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307597000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1327915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:43 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266474003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/INCATools/ontology-starter-kit/issues/50 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17440005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2937286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720494009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186499007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86348002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90505000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198142001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722478008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D021181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57130002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724540009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D044882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0475813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719816006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763748007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl ORPHA:99082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0861861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717771007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236740006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703226008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0678222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110158 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128869009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50570003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128073008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236071009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22841008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75316000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4255374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87513003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45812003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707608003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266265 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DOID:13026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277644009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31992008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2593002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609570008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49982000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007140 biolink:NamedThing obsolete antiphospholipid syndrome tmpak2llvmy_mondo_relaxed.owl term split MONDO:800010 True owl:Class https://github.com/monarch-initiative/mondo/issues/3634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51118003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C4310754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404026003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115645 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:505208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128192007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237999008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61974008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38795005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1449844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN651335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60136008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111852003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238763007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049767 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C2939153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004761 biolink:NamedThing obsolete urethral diverticulum tmpak2llvmy_mondo_relaxed.owl obsolete urethral diverticulum (disease) obsolete urethral diverticulum (disease) HP:0008722 DOID:9341|ICD9:599.2|ICD10:N36.1 Obsoleted as it represents a finding or phenotypic feature NCIT:C39861 True owl:Class DOID:9341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720344007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1384403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0702143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71404003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0243010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255084004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044235 biolink:NamedThing obsolete hsr tmpak2llvmy_mondo_relaxed.owl HSR|handedness|hand skill, relative OMIM:139900 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10021245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31798004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1443901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54099005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:227982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:441313008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702359002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445237003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240059009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017494 biolink:NamedThing obsolete congenital absence of upper arm and forearm with hand present, unilateral tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia, unilateral ICD10:Q71.1|Orphanet:295085 Obsolete in Orphanet MONDO:0017441 True owl:Class ORPHA:295085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49483002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91138005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020016 biolink:NamedThing obsolete rare neurologic disease with psychiatric involvement tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206949|Orphanet:98033 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN206949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:598216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:413427002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007801 biolink:NamedThing obsolete hypoplasia of teeth roots tmpak2llvmy_mondo_relaxed.owl hypoplasia of teeth roots OMIM:146400|MESH:C564144 MONDO:0007436 True owl:Class https://omim.org/entry/146400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716772007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95457000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51442005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52179003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16726004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0744295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721736003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14100003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17111003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719658006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50927007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2987240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237057005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239139000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77090002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:5 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56604005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C159503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:76 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37231002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016232 biolink:NamedThing obsolete rare venous malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:211252 Editor note: check this ICD10:Q27.8|UMLS:C2937220|MedDRA:10025532|UMLS:C0265950 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0041170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:189466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255012009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30041005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81285006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C51223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/305600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03460180 biolink:NamedThing obsolete: food added tmpak2llvmy_mondo_relaxed.owl "Food added" and its subclasses referenced existing ingredients / food products. FoodOn uses relations like "has ingredient" to do the same. If needed, these relations can be annotated with proportions. http://www.langual.org/langual_thesaurus.asp?termid=H0180 LanguaL curation note: When not otherwise indicated in the scope note, *FOOD ADDED* factor terms are applied when the specified food is the second ingredient in order of predominance, excluding water. Always used for fillings and when the added food is part of the product name (e.g., raisin bread). True http://langual.org owl:Class SNOMEDCT:63440008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0237020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254146000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19133005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449074003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423318000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6183001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205258009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7632005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95208000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205655003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702442008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230379007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267854005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78999002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN232319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000224 biolink:NamedThing obsolete_core Core is an instance of a grouping of terms from an ontology or ontologies. 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SNOMEDCT:91855006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715482004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443250000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0025169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/608156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109393007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74225001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1449721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9723006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:762543009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75096007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS100070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42530008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016629 biolink:NamedThing obsolete hemorrhagic disorder due to a platelet anomaly tmpak2llvmy_mondo_relaxed.owl rare bleeding disorder due to a platelet anomaly|rare coagulopathy due to a platelet anomaly|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia out of scope UMLS:CN236380|Orphanet:248326 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:88230002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:529665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703536004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:408643008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43339004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4282032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67895005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254988008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0000774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721873007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720862007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717632002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702349003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725287006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60876000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016767 biolink:NamedThing obsolete cutaneous lichen planus tmpak2llvmy_mondo_relaxed.owl rare cutaneous lichen planus|rare cutaneous LP out of scope ICD10:L43.8|ICD10:L43.0|ICD10:L43.3|UMLS:CN226995|ICD10:L66.1|ICD10:L43.2|ICD10:L43.1|Orphanet:254370|ICD10:L43.9 MONDO:0006572 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:73765005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45556008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2979888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16517004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363434003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22298006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70129008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405737000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:317430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766240006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://en.wikipedia.org/wiki/Fish biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403976007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188733003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:792004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363444001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0005251 biolink:NamedThing obsolete pauciarticular juvenile rheumatoid arthritis A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. tmpak2llvmy_mondo_relaxed.owl ICD9:714.32|SCTID:74391003|EFO:0003114|ICD10:M08.4 True owl:Class SNOMEDCT:74391003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3277671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763597000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188361007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/881357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15847003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51603000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:154283005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24269006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718774001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/306955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0025518 biolink:NamedThing obsolete aspirin allergy A allergic disease involving a acetylsalicylic acid. tmpak2llvmy_mondo_relaxed.owl allergy of acetylsalicylic acid|acetylsalicylic acid allergic disease|acetylsalicylic acid allergy|ASA allergy MONDO:outOfScope DOID:0040002|SCTID:293586001 IEDB:RV|UMLS:C0004058|ICD9:995.27 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class SNOMEDCT:293586001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19968009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017976 biolink:NamedThing obsolete disorder of sex development of gynecological interest tmpak2llvmy_mondo_relaxed.owl DSD of gynecological interest UMLS:CN227237|Orphanet:325620 These terms are not used clinically. MONDO:0002145|MONDO:0001967 True owl:Class ORPHA:325620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69980003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234102003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64324003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17608003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40354009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718615003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1313983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424568000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0585475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360369003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699704002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0241913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720863002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41069008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79935000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9012003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363373004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198353000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0236048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276796006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719300001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0598608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95677002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0565831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235550 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721875000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722002002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89141000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10022599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266138002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73103007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10021750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:2314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198297004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016135 biolink:NamedThing obsolete rare hereditary neurologic disease with peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200899|Orphanet:207025 True 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https://omim.org/entry/611543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007348 biolink:NamedThing obsolete colchicine resistance tmpak2llvmy_mondo_relaxed.owl colchicine resistance|colchicine sensitivity OMIM:120080|UMLS:C1861502 True owl:Class https://omim.org/entry/120080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711480000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3245522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716724006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262776 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719663005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1707446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110354 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204942005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS107480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363433009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275416002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703285005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:708672004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235906009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2063478 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233985008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716592003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109913001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1327918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59898000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55846006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4539985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C27510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726355001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255181009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1563705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405950009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205481009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:400011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044979 biolink:NamedThing obsolete disease by cell type tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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tmpak2llvmy_mondo_relaxed.owl DOID:0111116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391711 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN028867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95339000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10001540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716584007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS184840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3301 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430888006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13272007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10170007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718551002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1855002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0014330 biolink:NamedThing obsolete eculizumab, poor response to tmpak2llvmy_mondo_relaxed.owl eculizumab, poor response to UMLS:C3810402|OMIM:615749 True owl:Class https://omim.org/entry/615749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080193 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720957007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060179 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tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000666.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57406009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C103184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31325007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719274008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63480004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722454003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535757 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tmpak2llvmy_mondo_relaxed.owl UMLS:CN169364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722037004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721738002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:235832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3890167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238003000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718575002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35962006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716997004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51577008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95588004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0001589 biolink:NamedThing obsolete vaginal enterocele tmpak2llvmy_mondo_relaxed.owl vaginal hernia|enterocele SCTID:398061002|ICD9:618.6|DOID:1283|ICD10:N81.5|ICD10:K46 Represents finding. HP:0100672 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class SNOMEDCT:398061002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237611007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4054550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D045824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:556955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255037004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1608393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92279000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:57 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN225944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732252005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70153002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700062000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723332005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405721006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5370000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:362991006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81808003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10009007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443937008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123809005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237928008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443961001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2960633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C60672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C102870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254659009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#CL biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MESH:C536611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186312003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22500005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703268008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3519007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613617 biolink:NamedThing 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UMLS:C0393459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403760006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2700405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0150005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59276001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234485006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254888007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15699003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763530000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237059008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:53277000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:46487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763351003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232457008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:431347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C172127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000796 biolink:NamedThing obsolete cow milk allergy A allergy involving cow mile. tmpak2llvmy_mondo_relaxed.owl Bos taurus milk allergy|allergy of cow milk based food product|cow milk allergy|cow milk based food product allergic disease|obsolete cow milk allergy (disease) MONDO:outOfScope obsolete cow milk allergy (disease) DOID:0060521 HP:0100327 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716170005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2681923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105121000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:255241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417093003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C46008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277810000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719427001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0002393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:719251009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367489004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0112200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720632004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88996004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27330009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59275002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56677004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:589522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205468002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363446004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1168198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14748007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C162484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715666007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92296004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722859001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:544488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92812005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717763008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1720779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS231200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:202948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764518004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C571912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0234894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:562569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699754008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239037001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720954000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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DOID:0060797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92824003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61640006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:1904167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class DOID:0060776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9401 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl NCIT:C7453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:493342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020608 biolink:NamedThing obsolete blood group--ahonen tmpak2llvmy_mondo_relaxed.owl AN|BLOOD GROUP--AHONEN OMIM:110350 Obsoleted as it represents a trait True owl:Class https://omim.org/entry/110350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019936 biolink:NamedThing obsolete rare otorhinolaryngological malformation tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227722|Orphanet:96333 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/215518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:271793004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277185000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30171000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442652006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254629004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67795000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74050005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205808005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C63707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718910006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2699572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4509932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0098589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class NCIT:C2974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567713 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38481006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62585004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198322002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764500002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3665676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13092008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0950122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41564009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191950004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:223735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3896578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS227650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:454887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722385008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0458219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715438008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77116006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363388009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88469006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78569004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27956007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66937008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720517001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725165009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253103006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234556002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238926009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78745000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363746003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0015916 biolink:NamedThing obsolete rare neuroinflammatory or neuroimmunological disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Orphanet:182064|UMLS:CN200514 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:399956005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29951006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016788 biolink:NamedThing obsolete genetic hyperferritinemia without iron overload Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. tmpak2llvmy_mondo_relaxed.owl benign hyperferritinemia out of scope Orphanet:254704|SCTID:766929007 This is a biological anomaly and not a disease. HP:0003281 True owl:Class https://omim.org/entry/274300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C115164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0311273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:56044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128105004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95320005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254986007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719304005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0497556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118285006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000005.10 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447292006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:200421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6631009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91992005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0004036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0264436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69646003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56097005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716684004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1534008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237619009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74102009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0860580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703309000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129452008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:310605004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52159006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3277235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86610004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444910004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C147530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254843006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720853005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403913006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363430007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111323005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110788 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SNOMEDCT:363380002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:110005000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715568002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52430 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118610003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:459063003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720812002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722206009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718124006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4512050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS176400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS143890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35400008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372095001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734015000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000001.11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75474006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64009001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN620433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1168173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127057004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31659000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77365006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89024000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:522037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000787 biolink:NamedThing obsolete tomato allergy A allergy involving a Solanum lycopersicum. tmpak2llvmy_mondo_relaxed.owl Solanum lycopersicum caused allergic disease|allergy of Solanum lycopersicum|Solanum lycopersicum allergic disease|Solanum lycopersicum fruit allergy MONDO:outOfScope DOID:0060512 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236532003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448710000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1136339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1260965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1361009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400040008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3807567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/152550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372104008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2065009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720855003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0574083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230311004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044284 biolink:NamedThing obsolete blood group, gerbich system The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). tmpak2llvmy_mondo_relaxed.owl GE|blood group, Gerbich system|Gerbich blood Group system OMIM:616089 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/616089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86422009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80813006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS215500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10269001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764989007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0302280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76255006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722383001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN778765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0865849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127012008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718182008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435804 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0476089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS219000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66214007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87433001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0007632 biolink:NamedThing obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) tmpak2llvmy_mondo_relaxed.owl fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)|fragile site 16Q22|fragile site, Distamycin a type, rare, fra(16)(q22.1)|FRA16B MONDO:0002399 OMIM:136580 This is not a disease. 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238113006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:405288003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720978005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7983 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254131007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724175002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0863015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715437003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156520 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl ORPHA:2108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254631008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28488007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0549473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3277076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C80374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3551173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3489787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:5112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725001004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10091002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0699885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111514006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:297237003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359557001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70572005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105600002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/232220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49649001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126847008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75331009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720831008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN787271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718227006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23817003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1135993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75694006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717921000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109558001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN603947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86249007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254806009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64351000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS113700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65524005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69825009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32022003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235595009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D061387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234622003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766050000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C135080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27614006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:223176004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0476144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2827362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4085250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010107 biolink:NamedThing obsolete testicular regression syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:800012 This term was split into two terms: MONDO:8000015 46,XY SEX REVERSAL 11 and MONDO:800012 testicular regression syndrome'. True owl:Class ORPHA:281139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126960003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1720830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1298685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1306229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D024801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387712008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126905005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764461004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763716008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93473009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238867003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C575214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59032001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0262565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11817007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/254700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000834 biolink:NamedThing obsolete bone deterioration disease A bone structure disease that results in change or damage of structure located in bone. tmpak2llvmy_mondo_relaxed.owl DOID:0080007 This term is out of scope for Mondo. True https://github.com/monarch-initiative/mondo/issues/503 owl:Class DOID:0080007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722127006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92220004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/262890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:367137004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715192004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008126 biolink:NamedThing obsolete oncogene Yuasa tmpak2llvmy_mondo_relaxed.owl oncogene Yuasa OMIM:164891 This is a gene record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/164891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:60032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:309742004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360339005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233666007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240880004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716231009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26249004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41021005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45261009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419893006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1829003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126799003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19886006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725079003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/135500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715852004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:441815006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763616002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76642003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186903006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS301050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D049290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312898002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020008 biolink:NamedThing obsolete rare immune disease Rare immune system disease. tmpak2llvmy_mondo_relaxed.owl rare immune system disease MONDO:0005046 UMLS:CN206942|Orphanet:98004 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C9080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4945003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS253600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192673008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28432003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254709009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46168003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS260370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:453521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69494008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276202003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3812899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92083007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396230008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89369001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000015.10 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359610006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26037005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3661979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719275009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720941007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019049 biolink:NamedThing obsolete rare dystonia Rare dystonia. tmpak2llvmy_mondo_relaxed.owl rare dystonia (disease)|rare dystonia|rare dystonic disorder MONDO:0003441 Orphanet:68363 UMLS:C0393593 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D015799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10720004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/202110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733086003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9740002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410016009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715397000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C573023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54266002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3645536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720860004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255031003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:75315001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4075997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C66758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12454008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49436004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25898005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111589005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719825000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82525005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721161005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92218002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95776004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl OBO:mondo#ABBREVIATION biolink:NamedThing abbreviation tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty NCIT:C113172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D051302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252605 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10044019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10025391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010927 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl goat dairy food product allergic disease|Capra hircus milk allergy|allergy of goat dairy food product MONDO:outOfScope DOID:0060522 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2882252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430725003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:187841006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74025007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193756007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4510004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91612009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1767005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1112570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402415001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:60008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238924007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398036000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363384006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:203646004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419395007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1710113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398670003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017660 biolink:NamedThing obsolete rare genetic parkinsonian disorder tmpak2llvmy_mondo_relaxed.owl rare genetic hypokinetic movement disorder MONDO:0021095 Orphanet:307052|UMLS:CN227172 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C40164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423633003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:26 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718717004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720626009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1328479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS200600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254632001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76407009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716196007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1828221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64144002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN818987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:737223000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:458768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719646006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:252246005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:520820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65880007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230321007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84728 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tmpak2llvmy_mondo_relaxed.owl NCIT:C4637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719454003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85007004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718555006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/172500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1956257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022408 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1335417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:2583835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51290000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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MEDDRA:10011386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2004461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0458224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302822000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0475271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19829001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47028006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS308240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716232002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723557004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30174008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:438213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:58017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15771000119109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764725008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0028743 biolink:NamedThing obsolete dysostosis with brachydactyly with extraskeletal manifestations tmpak2llvmy_mondo_relaxed.owl Orphanet:498454 True owl:Class ORPHA:2886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15307001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0752121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:495818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2608087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123973009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:102455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044243 biolink:NamedThing obsolete nail high-sulfur protein tmpak2llvmy_mondo_relaxed.owl nail high-sulfur PROTEIN OMIM:161070 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/161070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:59315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN404275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373168002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34287003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38683003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0008531 biolink:NamedThing obsolete T-complex locus TCP10B tmpak2llvmy_mondo_relaxed.owl TCP10B|T-complex locus TCP10B OMIM:187030 True owl:Class https://omim.org/entry/187030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1707437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715963002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723583009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:62 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:316240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2974016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719377004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719431007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0010990 biolink:NamedThing obsolete Cd4/CD8 T-cell ratio tmpak2llvmy_mondo_relaxed.owl Cd4/CD8 T-cell ratio out of scope OMIM:601083 NCIT:C74637|HP:0031394 True https://github.com/monarch-initiative/mondo/issues/2941 owl:Class https://omim.org/entry/601083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS212065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044223 biolink:NamedThing obsolete radin blood group antigen tmpak2llvmy_mondo_relaxed.owl blood Group--Radin antigen|RADIN blood group antigen|RD OMIM:111620 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31568009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238829001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:226313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718554005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:255249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN241052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15629006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239895006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1802395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:2613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609558009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:191260004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186525007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721882001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57607007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444712000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235231000119100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722212004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239007005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0677936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73297009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3303004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725415009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2987239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8227 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tmpak2llvmy_mondo_relaxed.owl NCIT:C34844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C70646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN653908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720825005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126729006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126857009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:285636001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0749163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:734020000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:528647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702407009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371521007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190980000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719907006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:25968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254872007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724649000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715341003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C42058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76916001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38573008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60193003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718914002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373604002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766977007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92408009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1318551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/101800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188188009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255021005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716868003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230299004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40136003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/157900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733606001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720753002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:308121000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237292005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71941009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720571006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:596937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:157946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0019014 biolink:NamedThing obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques tmpak2llvmy_mondo_relaxed.owl MONDO:0100296 Split this term to create new OMIMPS and child. True https://github.com/monarch-initiative/mondo/issues/2758 owl:Class UMLS:C1840386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN368509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1305122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363429002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716708005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237983002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37610005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733034007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40291001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399505005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2213246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10501004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/143400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80908008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67242002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204667006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6452009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21926007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:203468000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:229717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724176001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN072436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4273897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609519004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017459 biolink:NamedThing obsolete central polydactyly of toes tmpak2llvmy_mondo_relaxed.owl central polydactyly of foot|mirror foot|mesoaxial polydactyly of toes Orphanet:295010|ICD10:Q69.2|SCTID:253967005 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12295008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2981712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017540 biolink:NamedThing obsolete postaxial polydactyly of toes, bilateral tmpak2llvmy_mondo_relaxed.owl Orphanet:295181|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715344006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4210003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444728005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719848005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33839006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47100003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/223300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82385007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C14089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1883694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47000000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0098805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0155169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68409003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C28193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15285008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10055579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403770008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77659000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720500008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34476008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/171660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402397006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:243321006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189164002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266143009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402694007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044244 biolink:NamedThing obsolete nail low-sulfur protein tmpak2llvmy_mondo_relaxed.owl nail LOW-sulfur PROTEIN OMIM:161080 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/161080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0409974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18265008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59621000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763310000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044255 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 1 Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). tmpak2llvmy_mondo_relaxed.owl SHEP1|hair color 3|eye color, Brown/blue|skin/hair/eye pigmentation 1, blue/Brown eyes|skin/hair/eye pigmentation 1, blue/Nonblue eyes|eye color 3|Brown eye color 2|skin/hair/eye pigmentation 1, Blond/Brown hair|eye color, blue/Nonblue|skin/hair/eye pigmentation, variation IN, 1 OMIM:227220 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/227220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3640053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92298003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188993006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1112746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399343007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:423486005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409966000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C89799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0157696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254604005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:203467005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763668009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN353477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39925003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67871000119105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:450886002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254948003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702809001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253231007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12301009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59548005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302847003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4318747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230500006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702354007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302856006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0694548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10024198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402723003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C60640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4151 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl NCIT:C2922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20342001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1282947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:449280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231472009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10045224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS308205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722117000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70041004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C155766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10008593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3642347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277507004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:54260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244554 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl MESH:C537413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80698001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19995004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:282834007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:240071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398640008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018929 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:202649003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4317339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230314007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000841 biolink:NamedThing obsolete metaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0009943 True owl:Class NCIT:C5053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40610006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/307150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719208005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1377850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51286002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733638006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:566231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:229752008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56267009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2018777 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tmpak2llvmy_mondo_relaxed.owl NCIT:C65203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23238000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/303700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0341689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2284002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:370514003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722955006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52232007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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UMLS:C2930966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254221009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83898004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254555008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS113900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195021004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40468003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C102570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62497000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703504006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237038001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348375 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373426005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78548001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3711390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253899000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276828006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764520001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702362004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10002947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:407675009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88151007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35046003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29491004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:416209007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:37612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55355000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/144050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88037009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51254007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399957001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21111006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68448003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77358003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58759008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234628004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230437002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4011725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C117111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:320365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404052009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:481152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766874001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C0018931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3275408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15069006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726346004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/192200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397012002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399100005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:453533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0003044 biolink:NamedThing obsolete extraosseous chondrosarcoma A chondrosarcoma that is located in exclusively soft tissue. tmpak2llvmy_mondo_relaxed.owl DOID:4549 NCIt recommended obsoletion. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:4549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720429007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414819007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017542 biolink:NamedThing obsolete central polydactyly of toes, bilateral tmpak2llvmy_mondo_relaxed.owl mirror foot, bilateral|mesoaxial polydactyly of toes, bilateral ICD10:Q69.2|Orphanet:295185 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255008003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5601008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C60989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:0080507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49434001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721232000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234585008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83579008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716721003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445257004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126550004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410038006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN234684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:407476002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716335003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3540852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59393003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0235813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715769008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1135191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765142003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763460007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14689000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0242916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239937004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MESH:C565870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/117650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:129639005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253136007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029410 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763400005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/308500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044215 biolink:NamedThing obsolete arm folding preference tmpak2llvmy_mondo_relaxed.owl ARM folding preference OMIM:107850 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/107850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725027004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90065 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715418007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1482004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763314009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1504412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764105002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/187650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724208006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015043 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93568 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20927009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190856003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49701002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0086445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766237006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76902006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60492000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Gymnosperms biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:5723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716648006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402878003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717765001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232442001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56717001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721088003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194802003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4055342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN130080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55604004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733450008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0112199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24321005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20721001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:70476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10004049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:285014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237662005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700107006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715868005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38323006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722032005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239140003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698253007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0269106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92097004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020621 biolink:NamedThing obsolete blood group--scianna system tmpak2llvmy_mondo_relaxed.owl Scianna Blood Group|SC|BLOOD GROUP--SCIANNA SYSTEM OMIM:111750 True owl:Class https://omim.org/entry/111750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1282968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:1979160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/300881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404143002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233664005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/126900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044971 biolink:NamedThing obsolete disease of macromolecular complex tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class DOID:10456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13394002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238051008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59763006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195469007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:59181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439960005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1135196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193137006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1509148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2700593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:700109009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720861000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/205250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726345000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:284449005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:2000823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:187732006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:447795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254150007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718220008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/175020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:392049002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN034020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1947949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10567003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56344009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45639009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716022002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70931000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044258 biolink:NamedThing obsolete methane production tmpak2llvmy_mondo_relaxed.owl methane production OMIM:250650 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/250650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609221008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26135000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238872007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0243002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448216007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C63924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:361203007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733599009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26479009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197480006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0851734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52506002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719845008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/244400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230330004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:26790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3696376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724095006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718605009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126583006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3543825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92412003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93948004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1562462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126948004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722376008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716199000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715430001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48553001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0917799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:300916003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30188007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34513009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236380004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/122880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/218649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1834460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127021009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D030321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186963008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711159002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238853007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1414216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716649003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363395000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83839005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:146801000119103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725903003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54280009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:368009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732249002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:709412006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:328611000119105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4509836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111502003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64722 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389261002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307219002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:100233350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91936005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044281 biolink:NamedThing obsolete c3hex, ability to smell Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). tmpak2llvmy_mondo_relaxed.owl C3HEX, ability to smell OMIM:615082 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C157268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0020610 biolink:NamedThing obsolete blood group, diego system tmpak2llvmy_mondo_relaxed.owl Diego Blood Group System|BLOOD GROUP, DIEGO SYSTEM|DI OMIM:110500 True owl:Class https://omim.org/entry/110500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78314001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718679004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:513456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277622004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414929001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0748540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0001012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:95670000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253151003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN030661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0006271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3164456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205484001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0455988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2349994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77608001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7265005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764859001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715624006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717263009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1285186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275322007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723995003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/236300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118932009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7773002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:307967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1516864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4021133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80690008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0917796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2939445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0859976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398071000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0949570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:422526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717052002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:396285007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3398004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69482004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10027107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404037002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0585129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111209006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91857003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59531002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63246000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80963002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63454000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91861009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN757794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:271432005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004387 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715474004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715472000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188156001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:60039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1327917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537339 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl ORPHA:180157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233917008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0549463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28466007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3716002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232333009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:450005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66345008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21764004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363386008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59026006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719814009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267626000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238746008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:118611004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703234002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021170 biolink:NamedThing obsolete amyotonia congenita tmpak2llvmy_mondo_relaxed.owl amyotonia congenita|Oppenheim disease|Oppenheim's disease GARD:0005798 True owl:Class https://omim.org/entry/259690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764621006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765190005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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MESH:C567652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71638002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442292004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10000347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0376549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267611002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867299 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22006008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0043234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class MESH:D005211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403810008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/231050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN169366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/151400 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044240 biolink:NamedThing obsolete musical perfect pitch Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}). tmpak2llvmy_mondo_relaxed.owl musical perfect pitch|absolute pitch OMIM:159300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443892003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733608000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403836001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10017708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10037450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92027006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1704275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3539494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2184126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1535942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:392559009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011629 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0239849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0748473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10893003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255003007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99925 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38539003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:308459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0333572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060852 biolink:NamedThing 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SNOMEDCT:19943007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87827003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3463916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35728003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80710001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14232007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:325118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719297006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0031024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24354007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1748006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82286005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:55475008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733068001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111245009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:198064007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:481986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91978004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254664008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38280009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703266007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:42775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN238505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN072455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254091006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703508009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81903006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/150250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060468 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719163006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3805604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255096006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766870005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1710111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D036981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723096000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205573006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722053001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1513364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254670002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27382006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860604 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044248 biolink:NamedThing obsolete thiourea tasting The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). tmpak2llvmy_mondo_relaxed.owl ptc tasting|Phenylthiocarbamide tasting|thiourea tasting|prop tasting|THIOT|Propylthiouracil tasting OMIM:171200 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/171200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48142003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10074631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699297004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:46348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044257 biolink:NamedThing obsolete lutheran null Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. tmpak2llvmy_mondo_relaxed.owl Lutheran null|recessive 50U (A-B-) phenotype OMIM:247420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/247420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10007968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86094006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN037005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312925009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44323002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42386007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C77201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0259771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10087007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722114007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109853004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2607947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:370143000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720819006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:544628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274864009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:442300000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/276600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254050009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:434179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402356004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8415 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:9620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16297002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27215 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192689006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN033933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1322252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044969 biolink:NamedThing obsolete disease of membrane bound organelle tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class NCIT:C34986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717767009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720859009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9650 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UMLS:CN205136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2349952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65275009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl ORPHA:169157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404058008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23849003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0395849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:89839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371409005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92241005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605389 biolink:NamedThing 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DOID:4440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254812004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017083 biolink:NamedThing obsolete lipoma associated with neurospinal dysraphism tmpak2llvmy_mondo_relaxed.owl Orphanet:268832 True owl:Class ORPHA:268832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48475001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566258 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tmpak2llvmy_mondo_relaxed.owl MESH:C564590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1858916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267430007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237722004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C111648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91954009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl FOODON:03000005 biolink:NamedThing obsolete: Indian prawn tmpak2llvmy_mondo_relaxed.owl True owl:Class ORPHA:1988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:422853008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538481 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10067940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40608009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719659003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254651007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32117000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044273 biolink:NamedThing obsolete hypertension, diastolic, resistance to tmpak2llvmy_mondo_relaxed.owl hypertension, diastolic, resistance to OMIM:608622 Obsoleted as it represents a trait or is a legacy 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tmpak2llvmy_mondo_relaxed.owl ORPHA:208650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702441001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110527 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718882006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37344009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54122009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10041929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:46486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2986550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:49041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0855197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717633007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719652007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81896006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764466009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:290842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719396000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232049001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28914006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN118820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10063691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:25762009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCBITaxon:subcohort biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:365258000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230552007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698290008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023067 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl DOID:5344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20010003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:353253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240081004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239889005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:221109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722435003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/127200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C557820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN252658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14911005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:208444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/244200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2986656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49762007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254114000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29076005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232057003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:264443002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126559003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402355000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29248006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43226001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82119001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10810001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78152008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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ORPHA:3115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46557008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000111 biolink:NamedThing editor preferred term The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English) tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: editor preferred term PERSON:Daniel Schober owl:AnnotationProperty UMLS:C1837812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716378008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43019009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C43345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl NCIT:C118829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715821000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000802 biolink:NamedThing obsolete Indian prawn allergy A allergic disease involving a Indian prawn. tmpak2llvmy_mondo_relaxed.owl Indian prawn allergic disease|allergy of Indian prawn|Fenneropenaeus indicus allergy MONDO:outOfScope DOID:0060527 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060527 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7792000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47004009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/260800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS141500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254676008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193413001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193148004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0600503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/159800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307596009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124322002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C66845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22542007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/116300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276544005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233763009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21007002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238436005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1706410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66881004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703532002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10048661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:9776 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235594008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719599008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2821 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715901002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65399007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84980006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:167759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34298002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716091000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765092004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0436545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060795 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D025962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725908007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0237971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D041781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:576349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50749006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235753003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715577009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:66625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720750004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192915005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763272003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111568001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111534007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255055008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044259 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 2 Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. tmpak2llvmy_mondo_relaxed.owl hair color 2|Red hair color|SHEP2|Blond hair/fair skin|UV-induced skin damage, susceptibility to|Rha|skin/hair/eye pigmentation, variation IN, 2 OMIM:266300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/266300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87252009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN229116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536599 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52772002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715239002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2707005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720413004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80711002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4839005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS107250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403832004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239050000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS137950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5181007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17602002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2040007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:43153006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44600005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:429033009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/234050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30102006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1148546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1261128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58762006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197270009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359643005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D053840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425687007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8635005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235728001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763793004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238004006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64586002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0969753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763349002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35387008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C60641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/118400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:58756001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0744898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0546264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443265004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715420005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2145472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0021070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:329813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:424053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/240150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0410251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73415002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254720009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1320640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77097004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387705004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2698359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363381003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439143004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN240645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/210500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267759006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1841854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726401004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111303009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:35031005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:86923008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126926005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5969 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302855005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77506005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1258215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720752007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:385483009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400014002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42711005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:89838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126824007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024583 biolink:NamedThing obsolete hernia The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. tmpak2llvmy_mondo_relaxed.owl hernias|enterocele MESH:D006547|NCIT:C34685|ICD10:K40.K46 Represents finding. HP:0100790 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class NCIT:C34685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722430008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126880001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204739008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444150000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73762008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14087004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715338007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D038901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763068005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0559469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766879006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716338001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721816008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0000744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:77830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0005694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1257877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:392291006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417672002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10041524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52616002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126907002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3496337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D047728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10058084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS309530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C74985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0744333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235132004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60650002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C580383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38281008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312514006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS235200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:181376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410059004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403779009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:512260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403946000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428041004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48245008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312381009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87224000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56573006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92405007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410793008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0544839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN035970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044228 biolink:NamedThing obsolete eegbqtl Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). tmpak2llvmy_mondo_relaxed.owl EEGBQTL|ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus OMIM:130190 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/130190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234148007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D030341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51510002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000665.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1283271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:90 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1563751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720636001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66063001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613327 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3892049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15459006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449824004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722060007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000668.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/128101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MESH:C536784 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722688002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205237003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724279004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17718000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21664006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85791004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:89488007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0477355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2752 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0241961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:268232000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/540000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237687003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/263610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/102150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40191005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/186750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719159004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715793003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95333004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46785007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449829009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234589002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2607948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/224120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266455006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D064068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0034888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716180009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61831009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0030612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766982000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74944002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733083006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3854478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111373008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720612000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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UMLS:C1519867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:104077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255020006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2350236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:31681005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/194300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:123596001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419728003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36667009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1996945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/400044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:474347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39929009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0684249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/194350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009625 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0265325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193576003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl IAO:0000116 biolink:NamedThing editor note An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology. tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: editor note PERSON:Daniel Schober owl:AnnotationProperty NCIT:C84738 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13596001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:207107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22818000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1276140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:565837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C78359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10061234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372106005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425558002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237612000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64715009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3826988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/206900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262977 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN220387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:7138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28366008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238757003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/226400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277623009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl DOID:11390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254290004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84172003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:464458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207327 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl ORPHA:68354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111590001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/246570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718749004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0553647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715534008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020242 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721713007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30652003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720464003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274078 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tmpak2llvmy_mondo_relaxed.owl NCIT:C39842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2749050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766051001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68544003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:195029002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92206006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0686239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363359008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN674504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37109004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128474007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719989007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:315345002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class SNOMEDCT:235494005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716239006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:304603007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564611 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000779 biolink:NamedThing obsolete apple allergy A allergy involving a Malus domestica. tmpak2llvmy_mondo_relaxed.owl Malus domestica fruit allergy|allergy of Malus domestica|Malus domestica allergic disease|Malus domestica caused allergic disease MONDO:outOfScope DOID:0060504 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:585867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302919001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254619006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36233006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707510005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:247573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110464 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266434009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1079004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4049241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930802 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18901009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1621958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239020008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21560005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70076002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:21946002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61663001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866746 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14168008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:451030007 biolink:NamedThing 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SNOMEDCT:399029005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0338488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87696004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:445503007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90584004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:373420004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1959620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719202006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2718067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425671009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3419005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253160006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563487 biolink:NamedThing 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https://omim.org/entry/300652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009245 biolink:NamedThing obsolete Friedreich ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0100339 True https://github.com/monarch-initiative/mondo/issues/2807 owl:Class ORPHA:98635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0045029 biolink:NamedThing obsolete Deuteromycetes infectious disease tmpak2llvmy_mondo_relaxed.owl infection by Deuteromycetes|infection caused by Deuteromycetes SCTID:59258008 MONDO:0002041 True owl:Class SNOMEDCT:59258008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615026 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400085009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C156430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190952002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44743006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022448 biolink:NamedThing obsolete amyoplasia mandibulofacial dysostosis tmpak2llvmy_mondo_relaxed.owl GARD:0000660 True https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis owl:Class DOID:9263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162533 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/115080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232061009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716380002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:426055002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716655008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:59606006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84883 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UMLS:C0346974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13555004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398264003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68225006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:314191009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1135868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480491 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763277009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10035079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719429003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236811002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:278042005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10064332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85589009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/305690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0080040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:707625001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2936403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715526002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14070001000004105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:521411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3278664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000049 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated tmpak2llvmy_mondo_relaxed.owl UMLS:CN228622|OMIMPS:610799 Obsolete in OMIM. MONDO:0021094 True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class UMLS:CN228622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN231736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95544006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78667006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721089006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721972001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:87503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0024657 biolink:NamedThing obsolete macrocystic neurilemmoma tmpak2llvmy_mondo_relaxed.owl DOID:3203 The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic MONDO:0002556 True owl:Class DOID:3203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/139800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2677065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN924917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:297232009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:318761000119105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1852700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234118009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1272167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418801006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:445197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0391970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85559002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254869000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15892005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:74912001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3151 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47812002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295217 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67787004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4302669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766706007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48458 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3179455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3298001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37779008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0850572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200973000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:18756002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/103420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:238459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:319504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:160148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0277351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0344963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109888004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN474476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230253001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275823 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl ORPHA:94090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30242009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724350009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:505216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726083008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717010007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1300257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718752007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:410058007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38847009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764104003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722067005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254898001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41256004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13197 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733045005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4303479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:768666006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387778001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563461 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723551003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4511005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009116 biolink:NamedThing obsolete lactose intolerance tmpak2llvmy_mondo_relaxed.owl obsolete lactose intolerance (disease) obsolete lactose intolerance (disease) MONDO:0100345 True https://github.com/monarch-initiative/mondo/issues/2949 owl:Class UMLS:C0546123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38837006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235856003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124220008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0021197 biolink:NamedThing obsolete disease by cellular component affected tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class https://omim.org/entry/184900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN120488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162565 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/452941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4048196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126846004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38898003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/556500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0348781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10011796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763218005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:68363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1257763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/154600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719302009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:481508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118822 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:110985001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15890002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0282513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253383003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763110007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402561003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C113171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239001006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0812413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400962005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:105668007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71908006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93255008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000786 biolink:NamedThing obsolete plum allergy A allergy involving a Prunus domestica. tmpak2llvmy_mondo_relaxed.owl Prunus domestica caused allergic disease|Prunus domestica allergic disease|Prunus domestica fruit allergy|allergy of Prunus domestica MONDO:outOfScope DOID:0060511 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75326 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615982 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200936003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7163005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:204036008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1708397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92060009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050655 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:330054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201015007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:10813004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN236791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2315246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10573 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044232 biolink:NamedThing obsolete fingers, relative length of tmpak2llvmy_mondo_relaxed.owl fingers, relative length OF|2D:4D finger-length ratio OMIM:136100 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/136100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720815000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93559003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:40283005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:211047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN034849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3987009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN043071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:506098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276816003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10031130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306577 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tmpak2llvmy_mondo_relaxed.owl MESH:C565228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/264060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C41248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723500009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764447009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363468009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/255310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4512054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036807 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/104310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15084002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49601007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400173004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537669 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22784002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN168056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:205550003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11254 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C147072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4012395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060132 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275498002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44057004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17568006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71276 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0685201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535955 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0867389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8074002 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0158992 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN069618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718720007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl MESH:C564242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77157004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:50817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0079301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609573005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414821002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60412004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:63103006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60703000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16644004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN033863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346153 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/163850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196578009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/278760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4908 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716174001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32942005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868113 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/311000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254609000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:61750000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:398987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56975005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D059347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:78250005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:37042000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1331532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2239351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73399005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197808006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2939157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197260007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254199006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84643 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:457062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448670003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79974007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126922007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566029 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48069004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C133742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:387742006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10010323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:496924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:467166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:189 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266113007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:244305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C579932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19885005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C37204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0472786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763373005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733088002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342844 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267639001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:265798000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206780 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:732250002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:51208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3160718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30911005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606712 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20824003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:75110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80126007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614830 biolink:NamedThing 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SNOMEDCT:277189006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:24777009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68226007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10069445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111591002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:906 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1854449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36689008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036476 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1318020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0012814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721099001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10045516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1443228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536062 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C61264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025149 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449799008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN417133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:425940002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0020619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404036006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193687000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0267557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253590009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:3331000119108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751986 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723824005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538104 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363452003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0221016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70173007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1302999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:314757003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254702000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN032230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:13213009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719812008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:248861000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618221 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110866 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238772004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66948001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835851 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tmpak2llvmy_mondo_relaxed.owl MESH:C565337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/301031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234961008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19242006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl NCIT:C61469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76092003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS176670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609241 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404079008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:48982009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C53482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0496763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2711750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:440706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080465 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1845146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722223000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3887949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4062006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715470008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:711164003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002543 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763755009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:703199001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359814004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91478007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0521542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10059019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448428002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57993004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80321008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0016606 biolink:NamedThing obsolete prenatal benign hypophosphatasia Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. tmpak2llvmy_mondo_relaxed.owl prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease out of scope Orphanet:247638|ICD10:E83.3|UMLS:CN201801 http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600011|http://purl.obolibrary.org/obo/MONDO_0600009 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class https://omim.org/entry/608432 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832609 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/204690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345552 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718770005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931503 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54304004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035235 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/114030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254122007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0856823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719301002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403922007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/219200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000682.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720951008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271633 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716233007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733071009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721862000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51105006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C119677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335183 biolink:NamedThing 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MESH:C566244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/165510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2362538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22125009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45534005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85005007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0006562 biolink:NamedThing obsolete incontinentia pigmenti achromians tmpak2llvmy_mondo_relaxed.owl incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome MONDO:0010302 EFO:1000716|SCTID:218358001 True owl:Class SNOMEDCT:218358001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4076194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1510778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:186535001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402700001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C50466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:103912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:248401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67667007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796226 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050613 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2720289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:446923008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN034131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0015624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721905000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1568868 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128462008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C87125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190786004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71464000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226610 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tmpak2llvmy_mondo_relaxed.owl ORPHA:3111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3890737 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610799 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93827000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/275450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1835966 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346286 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/132090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3063 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl MESH:D010040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750035 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/209880 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:418130002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004696 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C104813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564178 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3694 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28381002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0220710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1833170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51292008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:203392007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/214370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:108995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:69083 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:400036004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95455 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8800006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255032005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10040108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83015004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032372 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715950008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449783002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/166220 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237252008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262758 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720955004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:495274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0039319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10050185 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0156279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90685008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91935009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0022566 biolink:NamedThing obsolete BEST1 retinopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0007931 True https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy owl:Class ORPHA:2347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:414380008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/273900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4542 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233913007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:362971004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN072330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004415 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268594 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766937004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/250100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/148190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240111007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0392317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2732267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS104500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9574 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723461007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602114 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5198 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:109978004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715463008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8562 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/272200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254852002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720748007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:1674008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263413 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7610 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20427003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372142002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567683 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0854859 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023501 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336727 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/130070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2752081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237945003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41910004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371405004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044980 biolink:NamedThing obsolete disease of signal transduction tmpak2llvmy_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:92549006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C158329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34553 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:63273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/161550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3532429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0744273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1275336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6164 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65049003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:399805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:497764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:196125002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139411 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95412009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:443287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715403006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41799005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019904 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/274240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109740 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397729009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:307343001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C548032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2983 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0275524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861732 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310634 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189815007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3541518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10049459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3495426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/211980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/172110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10020803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87730004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230350000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334524 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726347008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/112450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:404038007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10003488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567648 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013919 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:87522002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:377788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846949 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720986005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536751 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718634003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718606005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615961 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:90507008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64540004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254051008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715339004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1209 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4304674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447785000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014860 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0276007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D056685 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0585266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73391000119102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10030310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751067 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:16567006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721888002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:413537009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3898144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2772003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430476004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:91934008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9720 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717338006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044252 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 6 tmpak2llvmy_mondo_relaxed.owl skin/hair/eye pigmentation 6, Blond/Brown hair|skin/hair/eye pigmentation 6, blue/Green eyes|SHEP6|skin/hair/eye pigmentation, variation IN, 6 OMIM:210750 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/210750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0349665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:20673009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/179650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1514915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN262500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52165006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17157001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99757 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36259009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/252300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1370890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C95834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:6483008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:444138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C92631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2932666 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:29028009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702421006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:168953 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699354006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717822006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0017495 biolink:NamedThing obsolete congenital absence of upper arm and forearm with hand present, bilateral tmpak2llvmy_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia, bilateral ICD10:Q71.1|Orphanet:295087|ICD10:Q71.13 Obsolete in Orphanet MONDO:0017441 True owl:Class ORPHA:295087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:282124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4127 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0740392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:420932006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/141405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:724096007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126676009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36985004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:420556 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722944006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:158022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310682 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C153290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65636009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4329608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93143009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83330001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110054 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719409004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:65748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202048 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3553936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:300913006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27892 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:73272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D060446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C68744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618321 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111318005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:102369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4510605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718215008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10046369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79239 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:51445007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765748009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39823006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10065657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15167005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6205 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050481 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0456845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:220402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66259004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675496 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606445 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN593636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183509 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435623 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:230845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:377 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:46477004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4660 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/277180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009298 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3728 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2835 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1513721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0004998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0347126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402910001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0853870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/242670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614485 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79467 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719046005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:264207005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2556008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617950 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1839 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715900001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0520572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718577005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206633 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600907 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:156183 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0240803 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:239124001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:57838006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0037889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111402 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35723 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4671 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN570507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C120162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1863343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/268060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719165004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0040830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:188734009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10056944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/174700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0009466 biolink:NamedThing obsolete neuronal intestinal pseudoobstruction tmpak2llvmy_mondo_relaxed.owl term split MONDO:0023961 True owl:Class UMLS:C1335508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:849000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50642008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271841 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397941 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/232600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0677865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253997002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/refseq/NC_000007.14 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10036175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254589009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/172290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614753 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:33208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C130994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295213 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/225040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:77553008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:22567005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266144 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:193428001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126733004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718193005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723360007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7487 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42982001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D054219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015433 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276975007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:357225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000275 biolink:NamedThing obsolete monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). tmpak2llvmy_mondo_relaxed.owl DOID:0050177 MONDO:0003847 True https://github.com/monarch-initiative/mondo/issues/1758 owl:Class DOID:0050177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79482 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032897 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0339304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197321007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284264 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14304000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717823001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/216300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254918001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2242813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/188550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1279945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715721005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1840073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619224 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363246002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713646001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6484 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538374 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403434009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3998 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3281289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3814 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/178000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352712 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1443900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1367774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253187005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4012050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:41291007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:7611002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/100050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:56317004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448709005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0302319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32595002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/156600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563693 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12735 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721307000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68771000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8564 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3889475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265306 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1290244 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:267653001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0043037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:314399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153942 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tmpak2llvmy_mondo_relaxed.owl ORPHA:293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180163 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3238 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10043540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0149978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83482000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:81 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044262 biolink:NamedThing obsolete cyanide, inability to smell tmpak2llvmy_mondo_relaxed.owl cyanide, inability to smell OMIM:304300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/304300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D062108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126865007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766816008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080653 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699300009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565296 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520097 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403990005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0220658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/146200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360495000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7598 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047913 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:372130007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715343000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127003006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:423793 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:180267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363534 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN031421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0019194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200486 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125703 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:468699 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D055665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/230400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:82 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1865639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:71961003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137820 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/142690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0272203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C148259 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611879 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:26132002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080567 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610842 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D029424 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251595 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254058002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/168900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1843569 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4775 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238870004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611584 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:305719002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0543541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:49227001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4539991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/228900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111378 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/259900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832661 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612126 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080325 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610420 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN030358 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:264670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263902 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011547 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832615 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:300319 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131438 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:183625 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253212001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN228396 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324632 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/125800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10015128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110561 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C150367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227589 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035312 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279765 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2348199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391497 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402468007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35434 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:276821000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:12962009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240894003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110930 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723501008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10588 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1520159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565425 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722463001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79394 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060806 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0038165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13401 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702379005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675993 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234478007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3498 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0026856 biolink:NamedThing obsolete homosexuality 1 tmpak2llvmy_mondo_relaxed.owl Sexual Orientation, Male|HOMOSEXUALITY 1|HMS1 OMIM:306995 True owl:Class https://omim.org/entry/306995 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0151517 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/162091 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:177101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8691004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:733095006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN889218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/176900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715462003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/121300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:370469003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/243440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1860357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0264435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90654 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN321864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141214 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335184 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008449 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263945 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698250005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/138770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34695 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:417081007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014060 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0948480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/153300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/189600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35142 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84692 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:725138002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715665006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:95646004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82458004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202578 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85478004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126870 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535303 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605388 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:236713006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619317 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68158006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007154 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/265500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3741 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110717 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:275446004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255225007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4310726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238337 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:722375007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:411709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C38759 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202426 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D004679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/229120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:171680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1690006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206051 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237117005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10021530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3368 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251927 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10066862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0279637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866994 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90119 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14125 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0000791 biolink:NamedThing obsolete carp allergy A allergy involving a Cyprinus carpio. tmpak2llvmy_mondo_relaxed.owl allergy of Cyprinus carpio|Cyprinus carpio fish allergy|Cyprinus carpio caused allergic disease|Cyprinus carpio allergic disease MONDO:outOfScope DOID:0060516 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99177 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231230 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D017034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:115665000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94379 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:713293002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9877 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:371861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:398530003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3810380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2013 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2062889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/611863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1963674 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3284 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615596 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/500014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:542310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566825 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699269005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38513001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C112840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:466084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:399995006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36348003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0025290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1839076 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:726607007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0011794 biolink:NamedThing obsolete Dravet syndrome Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. tmpak2llvmy_mondo_relaxed.owl MONDO:0100135 ICD10:G40.4|Orphanet:33069 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 True owl:Class https://omim.org/entry/261800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:831 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234140000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007642 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3276228 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001117 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D019966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0340014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764810000 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C45475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203203 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/140000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0200001 biolink:NamedThing obsolete chromate resistance tmpak2llvmy_mondo_relaxed.owl CHROMATE RESISTANCE|CHR OMIM:118840 True owl:Class https://omim.org/entry/118840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN248512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/237300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C97096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155363 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859761 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14264 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:406476007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3542549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080711 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:5455000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124302001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50215002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3715049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:210110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720576001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93971 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98566 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233621003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27511 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3806412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776834 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6621 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715789009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C19988 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34366 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:391987005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:418 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:31826 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1857575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98894 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/119915 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237997005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/600974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1561989 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/248770 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10376 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79365 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014123 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0018023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:68979007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN029849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50490005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:308870004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717232005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2960005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99828 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718769009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716773002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN239338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN201809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111523009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302858007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/217990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2404 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:602001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256030 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126559 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111686 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11296007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020139 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765744006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151137 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014277 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:439232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN074199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10012818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090042 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39640004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080495 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79157 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3809008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4518344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10053916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612947 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607087 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152061 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3494 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79212 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:227786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254085009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018549 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122787 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0027441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42812006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/200600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0154073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1859964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:8262006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443094001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254844000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015146 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:199302 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C126493 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3222 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1291620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99736 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110852 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2583 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:72831007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/158590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:90291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:230857 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3742 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:14527007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/insdc/CM000675.2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0857305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:762282007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83639 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206938 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:480512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206974 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844678 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614779 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:764959000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:70199000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090036 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608033 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10014587 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535706 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612968 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020147 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254693008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110645 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/302905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128333008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11329 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604922 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080069 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254828009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23560001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044278 biolink:NamedThing obsolete short sleeper In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. tmpak2llvmy_mondo_relaxed.owl short sleeper|short sleep phenotype OMIMPS:612975 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/phenotypicSeries/PS612975 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2673923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721902002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615473 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52636001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27216 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D020196 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:269190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111798006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C118783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10272 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535417 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:39479004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69408002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/109100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:44729001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070292 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10068370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563563 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS254090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10039768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866962 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675204 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN371052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3933 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D041881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D063647 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718750004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716169009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0451688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4960 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1282952 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79324 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/233650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1519001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:62588002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536261 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0950121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10931 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:36454001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605618 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64383006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4305253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:36412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:64744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D002194 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10018462 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029441 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/245160 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5384 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:324972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:363314 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C39932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717267005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN202346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000405 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0016395 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:82275008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11853 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111381 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:189179009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5815 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/424500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720749004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403991009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0280333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036689 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:139557 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:53347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:255028004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/137580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4176 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/253320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537713 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81166004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862935 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618422 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65443008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617798 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029888 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96263 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C54287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335684 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721904001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044218 biolink:NamedThing obsolete beeturia tmpak2llvmy_mondo_relaxed.owl Betacyaninuria|BEETURIA OMIM:109600 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/109600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34656 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:0000789 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class UMLS:C1960031 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C121984 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3554605 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10070668 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110528 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562448 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79633009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:182101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563478 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563812 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2965 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1263882 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13269 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99878 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0404479 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0026850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:364817 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402529002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536390 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/605909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C132080 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723444009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/606874 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1512709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300581 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92197001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0278867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8714 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN207040 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536122 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615162 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:128468007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:774 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1861630 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716279002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/106070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275745 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718200007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150773 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95499 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023652 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:721313009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1842446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:794 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235630008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:116371000119107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84651 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:137602 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/191100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281330 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:609562003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237691 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022782 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:766764008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:238036004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12934 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008373 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:47481007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566098 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111305 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:240105009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0022081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:513436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723308003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:28536002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601195 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MONDO:0044216 biolink:NamedThing obsolete artichoke, modification of taste by tmpak2llvmy_mondo_relaxed.owl artichoke, modification of taste by OMIM:108320 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/108320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4014 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:101039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110875 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0205788 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:50390006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0014474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C128369 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0035258 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:499182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27896 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838670 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:94065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83275001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/105805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:71273 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536346 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150940 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563585 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26854 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0263912 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45676007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26715 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970193 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:288 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/136680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608781 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1283620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35257 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D014718 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13521 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209932 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1334649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/603909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/309640 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225382 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91364 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060453 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221790 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS228520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110316 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0206701 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050437 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/266500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0028887 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:81634008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050477 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3401 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SNOMEDCT:425500002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27084 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:32984002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:279928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1334179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:370046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266254007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014641 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:430886005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717963001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0473546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:100050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/133260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40399 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS127550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4513 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832680 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612289 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/131705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8225 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3274138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617914 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2930792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C114777 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8106 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C102872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931072 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535481 biolink:NamedThing 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SNOMEDCT:3855007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23501004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:597201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127006003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150967 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302874002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C122796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566954 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070182 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5935 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64969001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/167750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201128002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40167 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0011406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723512008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3034 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2883 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616603 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4540299 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D010392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98290 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C129308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235873001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/185480 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254795008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10006041 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/313490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763069002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050903 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:200941006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:233728004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C124538 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266066 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:595133 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017924 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0281508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751536 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/181500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111383 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270805 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3165028 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1846056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289548 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617044 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35163 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:66081003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537575 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864851 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS120100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0268283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2597 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98697 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607143 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:64662007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:312917007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9631008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300260 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:718572004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:295173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615338 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:127230005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0403719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C116811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:240112 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227590 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3267073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2456 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226705 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3057 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:494421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/251800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616081 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864910 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0041295 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:67256000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:4501007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30023002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227662 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010037 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3279990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C127816 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294957 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C84719 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26792 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613729 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:397959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:505227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270460 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1266099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9145 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1515310 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:284282 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614837 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:444699000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931376 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/310440 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/258315 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/235500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4318 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C36025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/194071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566267 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:34168003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2275 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/270500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566724 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:613003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371089000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:93461009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3171 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060134 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1321427 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/164300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0085166 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3219 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007690 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7996 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110608 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151356 biolink:NamedThing 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MEDDRA:10016386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203110 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343939 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN226616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619075 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D011502 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9544 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/269500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:281190 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343676 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4534 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tmpak2llvmy_mondo_relaxed.owl ORPHA:1551 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:538101 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:412181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/244850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702398007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203398 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:402913004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0003864 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:585956 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN242156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535459 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4872 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:698247007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/184255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237692001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/304340 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C99105 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS123100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334266 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3333 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:266556005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332215 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C85056 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C75003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:9660004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0878681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN203946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:359729006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538156 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:280558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254116003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2074 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10023885 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566361 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10051951 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:277568007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:194785008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254946004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:409664000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715419004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1053 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/145980 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:141124 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:274085008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11328 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0474964 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204109 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/271245 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11121 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96344 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0266294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:402082 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601495 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254712007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3808991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5764 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:362973001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716697002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/120435 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888211 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608895 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4275078 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0393665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332627 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0345795 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SNOMEDCT:230499002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715798007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608591 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254905 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016470 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4274343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142804 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080016 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2750748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060439 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D006229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:436 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C100093 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2746083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98052 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4297 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C79948 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:192727001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:169090 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0007786 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/180550 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS119530 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562823 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C123018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10042271 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN562785 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6848 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016463 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:459070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:720598005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0029421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:253232000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:11251000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1847554 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3756 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0406650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040089 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0010414 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4022 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607131 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C571911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016208 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3203657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38342005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1752 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3392 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D013716 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10033687 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN244923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/227270 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:397016004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346064 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153285 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C125709 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D065886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613658 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26867 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69763009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518231 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C153291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10057454 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334403 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10034533 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1449809 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C96918 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1849731 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92585006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617352 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566516 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4289586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:476406 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54587008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:30913008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/575966 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562657 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D052159 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613641 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS242300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D003027 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:228218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86855 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1691020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536979 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:424413001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/520000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4050407 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27380 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D007637 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564331 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111504 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225343 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:48471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537972 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C71079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:17790008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251937 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:271832 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40021 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024025 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/314580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837991 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:178355 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012218 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535472 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D046152 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:83628 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0549307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7999 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212890 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111763 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1866558 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449821007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:88659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1844579 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616026 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65074000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:448401007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1968838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10062901 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C35767 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0398635 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796085 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26771 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl UMLS:C1861455 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206246 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:254525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566721 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN197471 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023801 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155234 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237624 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:34515 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613280 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3827253 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257800 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tmpak2llvmy_mondo_relaxed.owl UMLS:C0277045 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309796 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:419039007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565010 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716195006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:488650 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:280483007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111020 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:33513003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2678055 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868677 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565833 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009293 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9351 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0270210 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0162576 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832412 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0032708 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:232075002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/213500 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0036323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050059 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:163696 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl GO:2000824 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl True owl:Class https://omim.org/entry/118430 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151107 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0023788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535769 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4319932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:231829006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27059002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D050032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C26749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336913 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tmpak2llvmy_mondo_relaxed.owl ORPHA:309252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:715951007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6730 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C94408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1335744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0024959 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614929 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:85708001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1332140 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D016881 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/147320 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:404546 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111521006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1862169 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537614 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/129400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2751429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151077 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:262833 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79155 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5492 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:67038 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1858108 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5963 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10052181 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/207740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108985 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:69463008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3899673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4014294 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0009442 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:428281000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:124165006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D008068 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34942 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:439127006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:7192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D005356 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:268829 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl 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UMLS:CN237541 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C27070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:302161006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1838141 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:55 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2972007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:699185005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054726 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/607592 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2609268 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/220100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:35063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0040088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:362968007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:306747 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1876 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564362 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:294981 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2858 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567474 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C2886 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3207 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/222700 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/155601 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:52403007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/221350 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251332 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4923 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2675862 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:73975000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080586 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716515000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716379000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/608232 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1867023 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0879606 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D062688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0158248 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212360 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/212850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:42930003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:763776004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050291 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110512 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1252 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:275813 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7539 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5555 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537065 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/256810 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60735000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3150750 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/177050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566560 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D015423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4237 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261836 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D012593 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9976 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567086 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:79740000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:263339 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92089006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563311 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1850100 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:438583008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0042514 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111334 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227644 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614944 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/113900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702356009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1969783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:702424003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0346341 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853444 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1709457 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl BFO:0000057 biolink:NamedThing has participant at some time tmpak2llvmy_mondo_relaxed.owl BFO_0000057|BFO_0000057 BFO_0000057s|BFO_0000057s BFO_0000057ed|BFO_0000057ed owl:ObjectProperty OBO:part_of biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty MAXO:0000864 biolink:NamedThing therapeutic uses Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual.|Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual. tmpak2llvmy_mondo_relaxed.owl pharmocological uses|drug uses owl:ObjectProperty BFO:0000052 biolink:NamedThing inheres in at all times tmpak2llvmy_mondo_relaxed.owl BFO_0000052|BFO_0000052 BFO_0000052s|BFO_0000052s BFO_0000052ed|BFO_0000052ed owl:ObjectProperty OBO:mondo#disease_has_basis_in_accumulation_of biolink:NamedThing disease has basis in accumulation of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_shares_features_of biolink:NamedThing disease shares features of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channels_from biolink:NamedThing channels_from tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty UBERON_CORE:site_of biolink:NamedThing site_of c site_of p if c is the bearer of a disposition that is realized by a process that has p as part|c site_of p if c is the bearer of a disposition that is realized by a process that has p as part tmpak2llvmy_mondo_relaxed.owl capable_of_has_part owl:ObjectProperty disease_has_basis_in_development_of biolink:NamedThing disease_has_basis_in_development_of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#has_functional_parent biolink:NamedThing has functional parent tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_triggers biolink:NamedThing disease triggers tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:indirectly_supplies biolink:NamedThing indirectly_supplies a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s|a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty UBERON_CORE:filtered_through biolink:NamedThing filtered through Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity.|Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset_during_or_after biolink:NamedThing has_onset_during_or_after tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#part_of_progression_of_disease biolink:NamedThing part of progression of disease tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:pato#has_cross_section biolink:NamedThing has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.|s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty FOODON:00001301 biolink:NamedThing has food substance analog tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty RO:0002218 biolink:NamedThing obsolete has active participant x has participant y if and only if x realizes some active role that inheres in y|x has participant y if and only if x realizes some active role that inheres in y tmpak2llvmy_mondo_relaxed.owl True owl:ObjectProperty UBERON_CORE:subdivision_of biolink:NamedThing subdivision of tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:conduit_for biolink:NamedThing conduit for x is a conduit for y iff y passes through the lumen of x.|x is a conduit for y iff y passes through the lumen of x. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#lacks_part biolink:NamedThing lacks_part tmpak2llvmy_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y owl:ObjectProperty BFO:0000167 biolink:NamedThing has participant at all times tmpak2llvmy_mondo_relaxed.owl BFO_0000167|BFO_0000167 BFO_0000167s|BFO_0000167s BFO_0000167ed|BFO_0000167ed owl:ObjectProperty OBO:chebi#is_enantiomer_of biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#lacks_plasma_membrane_part biolink:NamedThing lacks_plasma_membrane_part tmpak2llvmy_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) owl:ObjectProperty ENVO:01001307 biolink:NamedThing partially_surrounded_by x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x|x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channels_into biolink:NamedThing channels_into tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty OBO:exo.obo#interacts_with biolink:NamedThing interacts_with tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_substituent_group_from biolink:NamedThing is substituent group from tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:envo#has_increased_levels_of biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:synapsed_by biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it.|Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#predisposes_towards biolink:NamedThing predisposes towards tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty has_onset_before biolink:NamedThing has_onset_before tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:exo.obo#interacts_with_an_exposure_stressor_via biolink:NamedThing interacts_with_an_exposure stressor_via tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:nbo#by_means biolink:NamedThing by_means tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_not_completed biolink:NamedThing has_not_completed tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_causes_feature biolink:NamedThing disease causes feature tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_tautomer_of biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:TransitiveProperty OBO:mondo#disease_responds_to biolink:NamedThing disease responds to tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:protects biolink:NamedThing protects tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:pato#reciprocal_of biolink:NamedThing reciprocal_of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.|q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#has_parent_hydride biolink:NamedThing has parent hydride tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_completed biolink:NamedThing has_completed tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:exo.obo#interacts_with_an_exposure_receptor_via biolink:NamedThing interacts_with_an_exposure_receptor_via tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset biolink:NamedThing has onset tmpak2llvmy_mondo_relaxed.owl owl:ObjectProperty MONDO:0001018 biolink:NamedThing obsolete lymphoblastic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0004967 True owl:Class GO:0044437 biolink:NamedThing obsolete vacuolar part OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. tmpak2llvmy_mondo_relaxed.owl vacuole component GO:0005773 True owl:Class MONDO:0006415 biolink:NamedThing obsolete small intestinal adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0044790 biolink:NamedThing obsolete congenital melanocytic nevus tmpak2llvmy_mondo_relaxed.owl MONDO:0044792 Obsoleted as was conflated with spitz nevus True owl:Class MONDO:0022464 biolink:NamedThing obsolete anophthalmia microcephaly hypogonadism tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000718 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class IAO:0000596 biolink:NamedThing has ID digit count Relates an ontology used to record id policy to the number of digits in the URI. The URI is: the 'has ID prefix" annotation property value concatenated with an integer in the id range (left padded with "0"s to make this many digits) tmpak2llvmy_mondo_relaxed.owl has ID digit count Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0007010 biolink:NamedThing obsolete uveitis tmpak2llvmy_mondo_relaxed.owl MONDO:0020283 True owl:Class MONDO:0019539 biolink:NamedThing obsolete retinopathy of prematurity tmpak2llvmy_mondo_relaxed.owl MONDO:0006952 True owl:Class MONDO:0004070 biolink:NamedThing obsolete gemistocytic astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016689 True owl:Class MONDO:0006384 biolink:NamedThing obsolete primary effusion lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018842 True owl:Class MONDO:0005390 biolink:NamedThing obsolete cardiac arrhythmia tmpak2llvmy_mondo_relaxed.owl MONDO:0007263 True owl:Class MONDO:0014879 biolink:NamedThing obsolete patent ductus arteriosus 3 tmpak2llvmy_mondo_relaxed.owl MONDO:0024266 True owl:Class MONDO:0004179 biolink:NamedThing obsolete astroblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016707 True owl:Class MONDO:0002584 biolink:NamedThing obsolete syringomyelia tmpak2llvmy_mondo_relaxed.owl MONDO:0017987 True owl:Class MONDO:0044226 biolink:NamedThing obsolete defective interfering particle induction, control of tmpak2llvmy_mondo_relaxed.owl Dipi, control of|vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|defective interfering particle induction, control OF HGNC:12678 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0023191 biolink:NamedThing obsolete Freire-Maia odontotrichomelic syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010111 Duplicate True https://github.com/monarch-initiative/mondo/issues/2579 owl:Class MONDO:0002079 biolink:NamedThing obsolete neuroendocrine tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0019496 True owl:Class MONDO:0000019 biolink:NamedThing obsolete ectodermal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0019287 True owl:Class MONDO:0005548 biolink:NamedThing obsolete malignant rhabdoid tumour tmpak2llvmy_mondo_relaxed.owl MONDO:0002728 True owl:Class MONDO:0000851 biolink:NamedThing obsolete achondrogenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0019648 True owl:Class MONDO:0008077 biolink:NamedThing obsolete neurofibromatosis, type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0018975 True owl:Class MONDO:0005245 biolink:NamedThing obsolete testicular seminoma tmpak2llvmy_mondo_relaxed.owl obsolete testicular seminoma (disease) obsolete testicular seminoma (disease) MONDO:0003669 True owl:Class MONDO:0005442 biolink:NamedThing obsolete type 1 diabetes nephropathy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class ENVO:00002004 biolink:NamedThing obsolete physical object of mesoscopic geological size An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0015996 biolink:NamedThing obsolete systemic capillary leak syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0001956 True owl:Class MONDO:0024597 biolink:NamedThing obsolete CD3epsilon deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0014278 True owl:Class IAO:0000231 biolink:NamedThing has obsolescence reason Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification. tmpak2llvmy_mondo_relaxed.owl has obsolescence reason PERSON:Alan Ruttenberg|PERSON:Melanie Courtot owl:AnnotationProperty MONDO:0005270 biolink:NamedThing obsolete motor neuron disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020128 True owl:Class MONDO:0000322 biolink:NamedThing obsolete Carrion disease A disease caused by infection with Bartonella bacilliformis. tmpak2llvmy_mondo_relaxed.owl MONDO:0018984 True owl:Class MONDO:0004072 biolink:NamedThing obsolete protoplasmic astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016687 True owl:Class MONDO:0000526 biolink:NamedThing obsolete appendix carcinoid tumor A carcinoid tumor (disease) that involves the vermiform appendix. tmpak2llvmy_mondo_relaxed.owl MONDO:0006091 True owl:Class MONDO:0021188 biolink:NamedThing obsolete hemangiopericytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005094 True owl:Class IAO:0000002 biolink:NamedThing example to be eventually removed tmpak2llvmy_mondo_relaxed.owl example to be eventually removed IAO:0000078 MONDO:0006205 biolink:NamedThing obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0002699 biolink:NamedThing obsolete pancreatic ductal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005184 True owl:Class MONDO:0003974 biolink:NamedThing obsolete malignant triton tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0016757 True owl:Class GO:0000988 biolink:NamedThing obsolete transcription factor activity, protein binding OBSOLETE. Binding to a protein or protein complex, to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well. tmpak2llvmy_mondo_relaxed.owl transcription factor activity|protein binding transcription factor activity GO:0005515|GO:0140110 True owl:Class MONDO:0009314 biolink:NamedThing obsolete GTP-cyclohydrolase I deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0100186 Created new term for GTP Cyclohydrolase I deficiency with hyperphenylalaninemia and created grouping class named GTP Cyclohydrolase I deficiency. Obsoleted this to avoid confusion with the new grouping class and the class this was renamed to. True https://github.com/monarch-initiative/mondo/issues/1491 owl:Class MONDO:0044263 biolink:NamedThing obsolete lutheran suppressor, x-linked An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. tmpak2llvmy_mondo_relaxed.owl LuxS|Lutheran suppressor, X-linked|XS HGNC:12837 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0019361 biolink:NamedThing obsolete boutonneuse fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0016720 biolink:NamedThing obsolete atypical papilloma of choroid plexus tmpak2llvmy_mondo_relaxed.owl MONDO:0002684 True owl:Class MONDO:0001908 biolink:NamedThing obsolete hypophosphatasia tmpak2llvmy_mondo_relaxed.owl MONDO:0018570 True owl:Class OBO:mondo#related biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003657 biolink:NamedThing obsolete methotrexate-associated lymphoproliferation tmpak2llvmy_mondo_relaxed.owl MONDO:0019483 True owl:Class MONDO:0009065 biolink:NamedThing obsolete cystinosis, nephropathic tmpak2llvmy_mondo_relaxed.owl MONDO:0100151 True https://github.com/monarch-initiative/mondo/issues/960 owl:Class MONDO:0000164 biolink:NamedThing obsolete corneal dystrophy, Fuchs endothelial tmpak2llvmy_mondo_relaxed.owl MONDO:0005321 True owl:Class MONDO:0005577 biolink:NamedThing obsolete narcolepsy without cataplexy tmpak2llvmy_mondo_relaxed.owl MONDO:0019371 True owl:Class GO:0035948 biolink:NamedThing obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0000150 biolink:NamedThing obsolete spondylometaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0016763 True owl:Class MONDO:0001937 biolink:NamedThing obsolete LEOPARD syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007893 True owl:Class MONDO:0018478 biolink:NamedThing obsolete primary hyperoxaluria tmpak2llvmy_mondo_relaxed.owl MONDO:0002474 True owl:Class MONDO:0015242 biolink:NamedThing obsolete aspergillosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005657 True owl:Class MONDO:0004171 biolink:NamedThing obsolete congenital epulis tmpak2llvmy_mondo_relaxed.owl MONDO:0015528 True owl:Class MONDO:0016265 biolink:NamedThing obsolete endometrial stromal sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006745 True owl:Class MONDO:0044236 biolink:NamedThing obsolete hepatitis b vaccine, response to More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). tmpak2llvmy_mondo_relaxed.owl HBV vaccine, response to|HEPATITIS B vaccine, response to OMIM:142395 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0006084 biolink:NamedThing obsolete angioleiomyoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006646 True owl:Class MONDO:0000406 biolink:NamedThing obsolete Brown-Vialetto-van Laere syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008891 True https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0016973 biolink:NamedThing obsolete thymoma type A tmpak2llvmy_mondo_relaxed.owl MONDO:0002588 True owl:Class MONDO:0004282 biolink:NamedThing obsolete eccrine porocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006189 True owl:Class MONDO:0005330 biolink:NamedThing obsolete angiosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0001669 biolink:NamedThing obsolete lung cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0008903 True owl:Class MONDO:0006697 biolink:NamedThing obsolete Chlamydophila infectious disease tmpak2llvmy_mondo_relaxed.owl MONDO:0021697 True owl:Class MONDO:0000354 biolink:NamedThing obsolete JMP syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017959 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0000388 biolink:NamedThing obsolete anonychia congenita tmpak2llvmy_mondo_relaxed.owl hyponychia congenita MONDO:0008798 True owl:Class MONDO:0021570 biolink:NamedThing obsolete Hauptmann-Thannhauser muscular dystrophy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0021569 True https://github.com/monarch-initiative/mondo/issues/55 owl:Class MONDO:0001047 biolink:NamedThing obsolete adrenal cortical hypofunction tmpak2llvmy_mondo_relaxed.owl MONDO:0000004 True owl:Class MONDO:0000848 biolink:NamedThing obsolete axial osteomalacia tmpak2llvmy_mondo_relaxed.owl MONDO:0007181 True owl:Class MONDO:0015989 biolink:NamedThing obsolete congenital valvular dysplasia tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0010753 True https://github.com/monarch-initiative/mondo/issues/3085 owl:Class MONDO:0001545 biolink:NamedThing obsolete von willebrand disease tmpak2llvmy_mondo_relaxed.owl obsolete von willebrand's disease MONDO:0019565 True owl:Class GO:0100021 biolink:NamedThing obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport. tmpak2llvmy_mondo_relaxed.owl regulation of iron ion import by transcription from RNA polymerase II promoter True owl:Class MONDO:0002439 biolink:NamedThing obsolete stress polycythemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019538 True owl:Class MONDO:0000361 biolink:NamedThing obsolete d-2-hydroxyglutaric aciduria tmpak2llvmy_mondo_relaxed.owl MONDO:0010924 True owl:Class MONDO:0044808 biolink:NamedThing obsolete early onset primary dystonia tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0007492 True https://github.com/monarch-initiative/mondo/issues/2809 owl:Class MONDO:0005735 biolink:NamedThing obsolete dracunculiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0016472 True owl:Class rdfs:comment biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0044431 biolink:NamedThing obsolete Golgi apparatus part OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. tmpak2llvmy_mondo_relaxed.owl Golgi subcomponent|Golgi component GO:0005794 True owl:Class OBO:mondo#pathogenesis biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0019081 biolink:NamedThing obsolete alopecia universalis tmpak2llvmy_mondo_relaxed.owl MONDO:0008757 True owl:Class MONDO:0015684 biolink:NamedThing obsolete malignant peritoneal mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0005512 True owl:Class GO:0100051 biolink:NamedThing obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002180 biolink:NamedThing obsolete gestational choriocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020550 True owl:Class MONDO:0035369 biolink:NamedThing obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0032705 True https://github.com/monarch-initiative/mondo/issues/3542 owl:Class GO:1900387 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000464 biolink:NamedThing obsolete Stargardt disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019353 True owl:Class MONDO:0000431 biolink:NamedThing obsolete mantle cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018876 True owl:Class MONDO:0003013 biolink:NamedThing obsolete pseudohypoaldosteronism tmpak2llvmy_mondo_relaxed.owl MONDO:0018638 True owl:Class MONDO:0000444 biolink:NamedThing obsolete ARC syndrome tmpak2llvmy_mondo_relaxed.owl pericyte cell syndromic disease MONDO:0017123 True owl:Class MONDO:0005573 biolink:NamedThing obsolete type II hypersensitivity reaction disease tmpak2llvmy_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0000865 biolink:NamedThing obsolete congenital fiber-type disproportion tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0009711 True https://github.com/monarch-initiative/mondo/issues/2534 owl:Class MONDO:0002711 biolink:NamedThing obsolete angiolipoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006085 True owl:Class MONDO:0010609 biolink:NamedThing obsolete Hirschsprung disease with type d brachydactyly tmpak2llvmy_mondo_relaxed.owl MONDO:0016294 True owl:Class MONDO:0004115 biolink:NamedThing obsolete gallbladder small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006219 True owl:Class MONDO:0006296 biolink:NamedThing obsolete mast cell sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0003520 biolink:NamedThing obsolete malignant acrospiroma tmpak2llvmy_mondo_relaxed.owl MONDO:0024245 True owl:Class MONDO:0005222 biolink:NamedThing obsolete acute megakaryoblastic leukaemia tmpak2llvmy_mondo_relaxed.owl MONDO:0004655 True owl:Class MONDO:0002690 biolink:NamedThing obsolete meningioma tmpak2llvmy_mondo_relaxed.owl MONDO:0016642 True owl:Class MONDO:0022652 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0011003 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class MONDO:0002830 biolink:NamedThing obsolete ovary transitional cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006343 True owl:Class MONDO:0000183 biolink:NamedThing obsolete hypertrophic osteoarthropathy, primary tmpak2llvmy_mondo_relaxed.owl MONDO:0016620 True owl:Class MONDO:0003344 biolink:NamedThing obsolete hemangioblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016748 True owl:Class MONDO:0008413 biolink:NamedThing obsolete schizophrenia tmpak2llvmy_mondo_relaxed.owl MONDO:0005090 True owl:Class MONDO:0020299 biolink:NamedThing obsolete spinocerebellar ataxia type 15/16 tmpak2llvmy_mondo_relaxed.owl MONDO:0011694 True owl:Class MONDO:0001267 biolink:NamedThing obsolete Lemierre syndrome tmpak2llvmy_mondo_relaxed.owl obsolete Lemierre's syndrome MONDO:0015306 True owl:Class MONDO:0000272 biolink:NamedThing obsolete autoimmune polyendocrine syndrome type 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0010012 True owl:Class MONDO:0000826 biolink:NamedThing obsolete syndromic X-linked intellectual disability Cabezas type tmpak2llvmy_mondo_relaxed.owl MONDO:0010306 True owl:Class MONDO:0007703 biolink:NamedThing obsolete heart, malformation of tmpak2llvmy_mondo_relaxed.owl MONDO:0009327 True owl:Class MONDO:0000175 biolink:NamedThing obsolete ataxia-telangiectasia-like disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0011457 True owl:Class MONDO:0003166 biolink:NamedThing obsolete pilocytic astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016691 True owl:Class MONDO:0005458 biolink:NamedThing obsolete q fever tmpak2llvmy_mondo_relaxed.owl MONDO:0019186 True owl:Class MONDO:0005263 biolink:NamedThing obsolete unipolar depression tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0002009 True https://github.com/monarch-initiative/mondo/issues/2862 owl:Class MONDO:0006860 biolink:NamedThing obsolete mucoepidermoid tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003036 True owl:Class MONDO:0021683 biolink:NamedThing obsolete transmissible disease OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process. tmpak2llvmy_mondo_relaxed.owl MONDO:0005550 True owl:Class MONDO:0010394 biolink:NamedThing obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010275 True owl:Class MONDO:0010195 biolink:NamedThing obsolete Weissenbacher-Zweymuller syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008490 Obsoleted in OMIM and Orphanet. True https://github.com/monarch-initiative/mondo/issues/1689 owl:Class MONDO:0006822 biolink:NamedThing obsolete Klatskin's tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0005409 biolink:NamedThing obsolete variant Creutzfeld Jacob disease tmpak2llvmy_mondo_relaxed.owl MONDO:0007012 True owl:Class MONDO:0021725 biolink:NamedThing obsolete Abderhalden-Kaufmann-Lignac syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100151 True owl:Class MONDO:0001194 biolink:NamedThing obsolete rickettsialpox tmpak2llvmy_mondo_relaxed.owl MONDO:0019360 True owl:Class MONDO:0019135 biolink:NamedThing obsolete paracoccidioidomycosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005894 True owl:Class MONDO:0006719 biolink:NamedThing obsolete cystic lymphangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0009761 True https://github.com/monarch-initiative/mondo/issues/395 owl:Class MONDO:0003833 biolink:NamedThing obsolete severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl obsolete severe combined immunodeficiency (disease) obsolete severe combined immunodeficiency (disease) MONDO:0015974 True owl:Class MONDO:0015444 biolink:NamedThing obsolete cleidocranial dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0007340 True owl:Class MONDO:0007658 biolink:NamedThing obsolete spitz nevus A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpak2llvmy_mondo_relaxed.owl MONDO:0044793 Obsoleted as was conflated with congenital melanocytic nevus True owl:Class MONDO:0003380 biolink:NamedThing obsolete endometrial clear cell adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006191 True owl:Class MONDO:0044680 biolink:NamedThing obsolete short rib-polydactyly syndrome type 5 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0013569 True https://github.com/monarch-initiative/mondo/issues/2806 owl:Class CL:0000243 biolink:NamedThing obsolete glial cell (sensu Vertebrata) A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear. tmpak2llvmy_mondo_relaxed.owl This is a grouping class that is no longer needed or wanted. True cell https://github.com/obophenotype/cell-ontology/issues/715 owl:Class MONDO:0001289 biolink:NamedThing obsolete endometriosis of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0006337 True owl:Class MONDO:0004711 biolink:NamedThing obsolete amyloidosis tmpak2llvmy_mondo_relaxed.owl obsolete amyloidosis (disease) obsolete amyloidosis (disease) MONDO:0019065 True owl:Class MONDO:0014721 biolink:NamedThing obsolete hereditary spherocytosis type 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0000913 True owl:Class MONDO:0016076 biolink:NamedThing obsolete lymphatic filariasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005761 True https://github.com/monarch-initiative/mondo/issues/842 owl:Class MONDO:0000738 biolink:NamedThing obsolete syndromic X-linked intellectual disability tmpak2llvmy_mondo_relaxed.owl MONDO:0020119 True owl:Class MONDO:0005239 biolink:NamedThing obsolete dedifferentiated liposarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020563 True owl:Class MONDO:0006099 biolink:NamedThing obsolete B-cell prolymphocytic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019461 True owl:Class MONDO:0002431 biolink:NamedThing obsolete nonspecific interstitial pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0019622 True owl:Class MONDO:0019863 biolink:NamedThing obsolete acro-renal-ocular syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0011812 These terms are equivalent. True https://github.com/monarch-initiative/mondo/issues/1201 owl:Class MONDO:0019273 biolink:NamedThing obsolete porokeratosis tmpak2llvmy_mondo_relaxed.owl MONDO:0006602 True owl:Class MONDO:0005225 biolink:NamedThing obsolete acute myeloblastic leukemia with maturation tmpak2llvmy_mondo_relaxed.owl MONDO:0020320 True owl:Class MONDO:0002686 biolink:NamedThing obsolete mast-cell sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0010376 biolink:NamedThing obsolete Brooks-Wisniewski-brown syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010407 Obsoleted in OMIM and GARD. True https://github.com/monarch-initiative/mondo/issues/696 owl:Class MONDO:0000329 biolink:NamedThing obsolete epidemic typhus tmpak2llvmy_mondo_relaxed.owl MONDO:0019362 True owl:Class MONDO:0044267 biolink:NamedThing obsolete gcy tmpak2llvmy_mondo_relaxed.owl GCY|stature|growth control, Y-chromosome influenced|tooth size HGNC:4211 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0019492 biolink:NamedThing obsolete desmoid tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0007608 True owl:Class GO:0051194 biolink:NamedThing obsolete positive regulation of cofactor metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpak2llvmy_mondo_relaxed.owl up-regulation of cofactor metabolic process|positive regulation of cofactor metabolism|up regulation of cofactor metabolic process|activation of cofactor metabolic process|stimulation of cofactor metabolic process|upregulation of cofactor metabolic process True owl:Class MONDO:0000493 biolink:NamedThing obsolete Muckle-Wells syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008633 True owl:Class MONDO:0001026 biolink:NamedThing obsolete bacterial infectious disease A infectious disease involving the Bacteria. tmpak2llvmy_mondo_relaxed.owl Bacteria infection|infections, Bacteria MONDO:0005113 True owl:Class MONDO:0004434 biolink:NamedThing obsolete glomangiomyoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002299 True owl:Class MONDO:0002115 biolink:NamedThing obsolete pancreatic cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0009831 True owl:Class IAO:0000124 biolink:NamedThing uncurated Nothing done yet beyond assigning a unique class ID and proposing a preferred term. tmpak2llvmy_mondo_relaxed.owl uncurated IAO:0000078 MONDO:0000028 biolink:NamedThing obsolete epilepsy, hot water tmpak2llvmy_mondo_relaxed.owl MONDO:0013229 True owl:Class MONDO:0009989 biolink:NamedThing obsolete enhanced S-cone syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100288 Split into two terms. True https://github.com/monarch-initiative/mondo/issues/2684 owl:Class MONDO:0000580 biolink:NamedThing obsolete CD40 ligand deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0010626 True owl:Class OIO:hasSynonymType biolink:NamedThing has_synonym_type tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006495 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017604 True owl:Class MONDO:0000416 biolink:NamedThing obsolete variable age at onset electroclinical syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100036 True owl:Class MONDO:0100145 biolink:NamedThing obsolete presymptomatic COVID-19 infection A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. tmpak2llvmy_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0001961 biolink:NamedThing obsolete glossopharyngeal neuralgia tmpak2llvmy_mondo_relaxed.owl MONDO:0016372 True owl:Class MONDO:0002662 biolink:NamedThing obsolete plague tmpak2llvmy_mondo_relaxed.owl MONDO:0019095 True owl:Class MONDO:0000180 biolink:NamedThing obsolete inflammatory skin and bowel disease, neonatal tmpak2llvmy_mondo_relaxed.owl MONDO:0017411 True owl:Class MONDO:0022314 biolink:NamedThing obsolete Hernandez Aguirre-Negrete syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016290 True owl:Class MONDO:0005064 biolink:NamedThing obsolete infectious meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0004796 True owl:Class GO:0044448 biolink:NamedThing obsolete cell cortex part OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpak2llvmy_mondo_relaxed.owl GO:0005938 True owl:Class MONDO:0006756 biolink:NamedThing obsolete extracutaneous mastocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019025 True owl:Class MONDO:0001069 biolink:NamedThing obsolete leukodystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0003162 biolink:NamedThing obsolete pilomyxoid astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016692 True owl:Class MONDO:0020150 biolink:NamedThing obsolete obsolete rare palpebral, lacrimal system and conjunctival disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet Orphanet:98559|UMLS:CN207025 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0005243 biolink:NamedThing obsolete Cushing syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018912 True owl:Class MONDO:0006376 biolink:NamedThing obsolete plantar fibromatosis A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpak2llvmy_mondo_relaxed.owl MONDO:0004684 True owl:Class MONDO:0022546 biolink:NamedThing obsolete basal cell nevus anodontia abnormal bone mineralization tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0021845 True https://github.com/monarch-initiative/mondo/issues/3700 owl:Class MONDO:0004999 biolink:NamedThing obsolete chondrosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0008977 True owl:Class MONDO:0018622 biolink:NamedThing obsolete nut midline carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0018526 biolink:NamedThing obsolete serous cystadenocarcinoma of pancreas tmpak2llvmy_mondo_relaxed.owl MONDO:0003630 True owl:Class MONDO:0020309 biolink:NamedThing obsolete Landau-Kleffner syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009509 True owl:Class MONDO:0016313 biolink:NamedThing obsolete renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005086 True owl:Class IAO:0000114 biolink:NamedThing has curation status tmpak2llvmy_mondo_relaxed.owl has curation status PERSON:Bill Bug|PERSON:Melanie Courtot|PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0010942 biolink:NamedThing obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 tmpak2llvmy_mondo_relaxed.owl eukaryotic translation elongation Factor 1 Alpha-1-like type 14|EEF1A1L14|eukaryotic translation elongation factor 1 ALPHA-1-like 14|prostatic carcinoma tumor-inducing Gene 1 OMIM:600841 True owl:Class MONDO:0000077 biolink:NamedThing obsolete nystagmus tmpak2llvmy_mondo_relaxed.owl obsolete nystagmus (disease) obsolete nystagmus (disease) MONDO:0005712 True owl:Class MONDO:0100027 biolink:NamedThing obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0018214 True owl:Class MONDO:0011645 biolink:NamedThing obsolete aneurysmal bone cysts tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018815 True https://github.com/monarch-initiative/mondo/issues/2868 owl:Class MONDO:0015472 biolink:NamedThing obsolete cryptococcosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005724 True owl:Class MONDO:0010616 biolink:NamedThing obsolete hypogonadism, male tmpak2llvmy_mondo_relaxed.owl MONDO:0009421 True owl:Class MONDO:0005948 biolink:NamedThing obsolete Ritter disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018181 True owl:Class MONDO:0001359 biolink:NamedThing obsolete Kohler disease tmpak2llvmy_mondo_relaxed.owl MONDO:0016086 True owl:Class MONDO:0002784 biolink:NamedThing obsolete craniopharyngioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006175 True owl:Class MONDO:0003914 biolink:NamedThing obsolete inborn purine-pyrimidine metabolic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0019254 True owl:Class MONDO:0007146 biolink:NamedThing obsolete apnea, central sleep tmpak2llvmy_mondo_relaxed.owl MONDO:0008807 True owl:Class MONDO:0003949 biolink:NamedThing obsolete cervical adenoma malignum tmpak2llvmy_mondo_relaxed.owl MONDO:0006140 True owl:Class MONDO:0018859 biolink:NamedThing obsolete Leigh disease tmpak2llvmy_mondo_relaxed.owl MONDO:0009723 True owl:Class MONDO:0019495 biolink:NamedThing obsolete yolk sac tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0005744 True owl:Class MONDO:0016278 biolink:NamedThing obsolete carcinosarcoma of the cervix uteri Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. tmpak2llvmy_mondo_relaxed.owl MONDO:0002877 True owl:Class MONDO:0004027 biolink:NamedThing obsolete embryonal cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0005564 True owl:Class MONDO:0008805 biolink:NamedThing obsolete Takayasu's arteritis tmpak2llvmy_mondo_relaxed.owl MONDO:0017991 True owl:Class MONDO:0007582 biolink:NamedThing obsolete Cockayne syndrome B tmpak2llvmy_mondo_relaxed.owl MONDO:0019570 True owl:Class MONDO:0001002 biolink:NamedThing obsolete pulmonary siderosis tmpak2llvmy_mondo_relaxed.owl MONDO:0008346 True owl:Class MONDO:0000038 biolink:NamedThing obsolete hyper-IgE recurrent infection syndrome tmpak2llvmy_mondo_relaxed.owl See text of OMIM 147060. MONDO:0018037 True owl:Class MONDO:0020328 biolink:NamedThing obsolete classic Hodgkin lymphoma, mixed cellularity type tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0004633 True https://github.com/monarch-initiative/mondo/issues/3000 owl:Class MONDO:0000096 biolink:NamedThing obsolete pulmonary surfactant metabolism dysfunction tmpak2llvmy_mondo_relaxed.owl SMDP MONDO:0012580 OMIM series 265120. True owl:Class MONDO:0018522 biolink:NamedThing obsolete acinar cell carcinoma of pancreas tmpak2llvmy_mondo_relaxed.owl MONDO:0006346 True owl:Class MONDO:0020534 biolink:NamedThing obsolete farmer's lung tmpak2llvmy_mondo_relaxed.owl MONDO:0001971 True owl:Class MONDO:0005450 biolink:NamedThing obsolete autoimmune disease tmpak2llvmy_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0005926 biolink:NamedThing obsolete poliomyelitis tmpak2llvmy_mondo_relaxed.owl MONDO:0017373 True owl:Class GO:0051197 biolink:NamedThing obsolete positive regulation of coenzyme metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpak2llvmy_mondo_relaxed.owl up-regulation of coenzyme metabolic process|positive regulation of coenzyme and prosthetic group metabolic process|activation of coenzyme metabolic process|upregulation of coenzyme metabolic process|positive regulation of coenzyme metabolism|positive regulation of coenzyme and prosthetic group metabolism|stimulation of coenzyme metabolic process|up regulation of coenzyme metabolic process True owl:Class MONDO:0000312 biolink:NamedThing obsolete enlarged vestibular aqueduct tmpak2llvmy_mondo_relaxed.owl MONDO:0023069 True owl:Class MONDO:0022145 biolink:NamedThing obsolete Chiari malformation type II tmpak2llvmy_mondo_relaxed.owl MONDO:0008816 True owl:Class MONDO:0007003 biolink:NamedThing obsolete twin-to-twin transfusion syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019805 True owl:Class MONDO:0019352 biolink:NamedThing obsolete sporotrichosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005968 True owl:Class MONDO:0044260 biolink:NamedThing obsolete ec1 tmpak2llvmy_mondo_relaxed.owl susceptibility to lysis by ALLOREACTIVE natural KILLER cells|EC1|natural Killer cell susceptibility 1 HGNC:7832 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0019785 biolink:NamedThing obsolete 15q24 microdeletion syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0013256 True owl:Class MONDO:0004011 biolink:NamedThing obsolete familial melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018961 True owl:Class MONDO:0001738 biolink:NamedThing obsolete osteopetrosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017198 True owl:Class MONDO:0005123 biolink:NamedThing obsolete Hibiscus chlorotic ringspot virus infection tmpak2llvmy_mondo_relaxed.owl EFO:0000782 True owl:Class MONDO:0003230 biolink:NamedThing obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0006168 biolink:NamedThing obsolete common hematopoietic neoplasm tmpak2llvmy_mondo_relaxed.owl EFO:1000201 Obsoleted in NCIt True https://github.com/monarch-initiative/mondo/issues/2104 owl:Class MONDO:0002890 biolink:NamedThing obsolete gastrointestinal adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006180 True owl:Class MONDO:0018578 biolink:NamedThing obsolete hypophosphatemic rickets tmpak2llvmy_mondo_relaxed.owl MONDO:0000044 True owl:Class MONDO:0018862 biolink:NamedThing obsolete cat-scratch disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005692 True owl:Class MONDO:0000221 biolink:NamedThing obsolete cerebroretinal microangiopathy with calcifications and cysts tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0020080 biolink:NamedThing obsolete histiocytic and dendritic cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006247 True owl:Class MONDO:0001970 biolink:NamedThing obsolete hypokalemic periodic paralysis tmpak2llvmy_mondo_relaxed.owl MONDO:0008223 True owl:Class MONDO:0003855 biolink:NamedThing obsolete immature teratoma of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0018369 True owl:Class MONDO:0005795 biolink:NamedThing obsolete histoplasmosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018312 True owl:Class GO:1900418 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process. tmpak2llvmy_mondo_relaxed.owl activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0007419 biolink:NamedThing obsolete Darwinian tubercle of pinna tmpak2llvmy_mondo_relaxed.owl MONDO:0007418 True owl:Class MONDO:0000558 biolink:NamedThing obsolete spastic ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0017845 True owl:Class MONDO:0000567 biolink:NamedThing obsolete C1 inhibitor deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0007361 True owl:Class GO:0043902 biolink:NamedThing obsolete positive regulation of multi-organism process OBSOLETE. Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000818 biolink:NamedThing obsolete lethal congenital contracture syndrome 4 tmpak2llvmy_mondo_relaxed.owl MONDO:0013965 True owl:Class MONDO:0000356 biolink:NamedThing obsolete Walker-Warburg syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019523 True owl:Class MONDO:0000825 biolink:NamedThing obsolete hypomyelinating leukodystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0000880 biolink:NamedThing obsolete lupus nephritis tmpak2llvmy_mondo_relaxed.owl MONDO:0005556 True owl:Class MONDO:0006985 biolink:NamedThing obsolete subependymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0007667 True owl:Class MONDO:0001111 biolink:NamedThing obsolete thrombotic thrombocytopenic purpura tmpak2llvmy_mondo_relaxed.owl MONDO:0018896 True owl:Class MONDO:0000247 biolink:NamedThing obsolete hemophagocytic lymphohistiocytosis A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpak2llvmy_mondo_relaxed.owl MONDO:0015540 True owl:Class MONDO:0001958 biolink:NamedThing obsolete autosomal dominant cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0020380 True owl:Class MONDO:0005443 biolink:NamedThing obsolete type 2 diabetes nephropathy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class MONDO:0004954 biolink:NamedThing obsolete malt lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0007650 True owl:Class MONDO:0000717 biolink:NamedThing obsolete acrofrontofacionasal dysostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0008715 True owl:Class MONDO:0015560 biolink:NamedThing obsolete classic mast cell leukemia tmpak2llvmy_mondo_relaxed.owl ICD10:C94.3|Orphanet:158796 obsoleted in Orphanet MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/2137 owl:Class MONDO:0002902 biolink:NamedThing obsolete pseudohypoparathyroidism tmpak2llvmy_mondo_relaxed.owl MONDO:0019992 True owl:Class MONDO:0019523 biolink:NamedThing obsolete Walker-Warburg syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000171 These are considered equivalent in OMIM. True https://github.com/monarch-initiative/mondo/issues/1223 owl:Class MONDO:0015080 biolink:NamedThing obsolete thymic tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0005197 True owl:Class IAO:0000113 biolink:NamedThing in branch An annotation property indicating which module the terms belong to. This is currently experimental and not implemented yet. tmpak2llvmy_mondo_relaxed.owl OBI_0000277 in branch GROUP:OBI owl:AnnotationProperty MONDO:0005727 biolink:NamedThing obsolete cystoisosporiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0018769 True owl:Class MONDO:0000438 biolink:NamedThing obsolete ataxia with oculomotor apraxia type 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0018996 True owl:Class MONDO:0006492 biolink:NamedThing obsolete vulvar squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002210 True owl:Class MONDO:0020114 biolink:NamedThing obsolete polycythemia tmpak2llvmy_mondo_relaxed.owl MONDO:0005571 True owl:Class MONDO:0006867 biolink:NamedThing obsolete neovascular glaucoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019783 True owl:Class MONDO:0000622 biolink:NamedThing obsolete cell type benign neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0005165 True owl:Class MONDO:0000655 biolink:NamedThing obsolete heavy chain disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019464 True owl:Class MONDO:0005924 biolink:NamedThing obsolete pneumocystosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019121 True owl:Class MONDO:0000006 biolink:NamedThing obsolete alopecia-mental retardation syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003451 biolink:NamedThing obsolete laryngeal neuroendocrine tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0015070 True owl:Class MONDO:0008664 biolink:NamedThing obsolete autosomal dominant neovascular inflammatory vitreoretinopathy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0006928 True https://github.com/monarch-initiative/mondo/issues/3110 owl:Class MONDO:0000852 biolink:NamedThing obsolete hypochondrogenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0019669 True owl:Class MONDO:0003605 biolink:NamedThing obsolete adrenal neuroblastoma A neuroblastoma arising from the adrenal gland. tmpak2llvmy_mondo_relaxed.owl MONDO:0006076 True owl:Class MONDO:0015865 biolink:NamedThing obsolete benign tumor of fallopian tubes tmpak2llvmy_mondo_relaxed.owl MONDO:0000645 True owl:Class MONDO:0000579 biolink:NamedThing obsolete coronin-1A deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0014168 True owl:Class MONDO:0100141 biolink:NamedThing obsolete moderate COVID-19 infection A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. tmpak2llvmy_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0002725 biolink:NamedThing obsolete diffuse cutaneous mastocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019315 True owl:Class MONDO:0000116 biolink:NamedThing obsolete cortical dysplasia, complex, with other brain malformations tmpak2llvmy_mondo_relaxed.owl MONDO:0000904 True owl:Class MONDO:0018367 biolink:NamedThing obsolete clear cell adenocarcinoma of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0006045 True owl:Class MONDO:0006101 biolink:NamedThing obsolete Bartholin gland squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004053 True owl:Class MONDO:0006072 biolink:NamedThing obsolete adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpak2llvmy_mondo_relaxed.owl MONDO:0003185 True owl:Class MONDO:0004084 biolink:NamedThing obsolete uveal epithelioid cell melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006200 True owl:Class MONDO:0001963 biolink:NamedThing obsolete cerebral degeneration disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005559 True owl:Class MONDO:0006252 biolink:NamedThing obsolete infiltrating bladder lymphoepithelioma-like carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004299 True owl:Class MONDO:0000830 biolink:NamedThing obsolete Waldenstroem's macroglobulinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0007926 True owl:Class MONDO:0020514 biolink:NamedThing obsolete thymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006456 True owl:Class MONDO:0006750 biolink:NamedThing obsolete Erdheim-Chester disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018153 True owl:Class MONDO:0004798 biolink:NamedThing obsolete Sheehan syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019618 True owl:Class MONDO:0003793 biolink:NamedThing obsolete uterine carcinosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006485 True owl:Class MONDO:0004870 biolink:NamedThing obsolete diabetic neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:0006626 True owl:Class MONDO:0002147 biolink:NamedThing obsolete Coffin-Siris syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015452 True owl:Class MONDO:0000027 biolink:NamedThing obsolete epilepsy, absence tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000135 biolink:NamedThing obsolete Kenny-Caffey syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016516 True owl:Class IAO:0000599 biolink:NamedThing has ID prefix Relates an ontology used to record id policy to a prefix concatenated with an integer in the id range (left padded with "0"s to make this many digits) to construct an ID for a term being created. tmpak2llvmy_mondo_relaxed.owl has ID prefix Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty GO:0044429 biolink:NamedThing obsolete mitochondrial part OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpak2llvmy_mondo_relaxed.owl mitochondrion component|mitochondrial subcomponent GO:0005739 True owl:Class OIO:hasDbXref biolink:NamedThing database_cross_reference tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0010934 biolink:NamedThing obsolete DFNB5 tmpak2llvmy_mondo_relaxed.owl MONDO:0000912 True owl:Class MONDO:0001311 biolink:NamedThing obsolete Chandler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0020369 True owl:Class MONDO:0022460 biolink:NamedThing obsolete anophthalmia cleft lip palate hypothalamic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0010930 True owl:Class MONDO:0000123 biolink:NamedThing obsolete factor V and Factor VIII, combined deficiency of tmpak2llvmy_mondo_relaxed.owl MONDO:0018175 True owl:Class MONDO:0015154 biolink:NamedThing obsolete rickettsial disease tmpak2llvmy_mondo_relaxed.owl MONDO:0006956 True owl:Class MONDO:0011643 biolink:NamedThing obsolete permanent neonatal diabetes mellitus tmpak2llvmy_mondo_relaxed.owl MONDO:0100164 OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS. True https://github.com/monarch-initiative/mondo/issues/1803 owl:Class MONDO:0017679 biolink:NamedThing obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature tmpak2llvmy_mondo_relaxed.owl autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. UMLS:CN203566|Orphanet:308031 True https://github.com/monarch-initiative/mondo/pull/2317|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0000822 biolink:NamedThing obsolete lymphoproliferative syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016537 True owl:Class MONDO:0019564 biolink:NamedThing obsolete systemic sclerosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005100 True owl:Class MONDO:0005721 biolink:NamedThing obsolete coxsackievirus infectious disease tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0000241 True https://github.com/monarch-initiative/mondo/issues/3205 owl:Class MONDO:0006318 biolink:NamedThing obsolete nevus of Ito tmpak2llvmy_mondo_relaxed.owl MONDO:0016985 True owl:Class MONDO:0000178 biolink:NamedThing obsolete breasts and/or nipples, aplasia or hypoplasia of tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0015309 biolink:NamedThing obsolete Auriculocondylar syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000107 True owl:Class MONDO:0006542 biolink:NamedThing obsolete epidermolysis bullosa acquisita A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. tmpak2llvmy_mondo_relaxed.owl MONDO:0018747 True owl:Class GO:0072368 biolink:NamedThing obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0004589 biolink:NamedThing obsolete hereditary retinal dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0000712 biolink:NamedThing obsolete FTDALS tmpak2llvmy_mondo_relaxed.owl MONDO:0017161 duplicate True https://github.com/monarch-initiative/mondo/issues/1902 owl:Class MONDO:0003270 biolink:NamedThing obsolete ganglioglioma tmpak2llvmy_mondo_relaxed.owl MONDO:0016733 True owl:Class MONDO:0000635 biolink:NamedThing obsolete osteoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018936 True owl:Class MONDO:0015287 biolink:NamedThing obsolete vulvar intraepithelial neoplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0005198 True owl:Class MONDO:0000613 biolink:NamedThing obsolete estrogen-receptor positive breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006512 True owl:Class MONDO:0006529 biolink:NamedThing obsolete bullous skin disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019337 True owl:Class GO:2001274 biolink:NamedThing obsolete negative regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl negative regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0002499 biolink:NamedThing obsolete astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019781 True owl:Class MONDO:0003566 biolink:NamedThing obsolete choroid plexus carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016718 True owl:Class MONDO:0001486 biolink:NamedThing obsolete Vogt-Koyanagi-Harada disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018092 True owl:Class MONDO:0004968 biolink:NamedThing obsolete acute myelomonocytic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018871 True owl:Class MONDO:0000735 biolink:NamedThing obsolete oculodentodigital dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0008111 True owl:Class MONDO:0022676 biolink:NamedThing obsolete cataract - glaucoma tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0015567 True https://github.com/monarch-initiative/mondo/issues/2789 owl:Class MONDO:0016728 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006131 True owl:Class MONDO:0000353 biolink:NamedThing obsolete Saldino-Noonan syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019663 True owl:Class MONDO:0003489 biolink:NamedThing obsolete middle ear squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006303 True owl:Class MONDO:0003217 biolink:NamedThing obsolete ureter carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006481 True owl:Class MONDO:0003552 biolink:NamedThing obsolete adenosquamous gallbladder carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006217 True owl:Class GO:0044427 biolink:NamedThing obsolete chromosomal part OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpak2llvmy_mondo_relaxed.owl chromosomal component|chromosome part|chromosome component GO:0005694 True owl:Class MONDO:0019244 biolink:NamedThing obsolete glycogen storage disease tmpak2llvmy_mondo_relaxed.owl MONDO:0002412 True owl:Class MONDO:0015964 biolink:NamedThing obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease tmpak2llvmy_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet Orphanet:183598|UMLS:CN200563 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0022850 biolink:NamedThing obsolete congenital sucrose isomaltose malabsorption tmpak2llvmy_mondo_relaxed.owl MONDO:0009114 True owl:Class MONDO:0022495 biolink:NamedThing obsolete arthritis short stature deafness tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000775 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0000753 biolink:NamedThing obsolete omphalocele tmpak2llvmy_mondo_relaxed.owl MONDO:0019015 True owl:Class MONDO:0000593 biolink:NamedThing obsolete autoimmune disease of skin and connective tissue tmpak2llvmy_mondo_relaxed.owl MONDO:0017841 True owl:Class MONDO:0002179 biolink:NamedThing obsolete placental choriocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006374 True owl:Class MONDO:0018057 biolink:NamedThing obsolete toxocariasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005988 True owl:Class MONDO:0002723 biolink:NamedThing obsolete cutaneous mastocytosis tmpak2llvmy_mondo_relaxed.owl obsolete cutaneous mastocytosis (disease) obsolete cutaneous mastocytosis (disease) MONDO:0019023 True owl:Class MONDO:0007324 biolink:NamedThing obsolete chorea tmpak2llvmy_mondo_relaxed.owl MONDO:0001595 True owl:Class MONDO:0009739 biolink:NamedThing obsolete infantile neuroaxonal dystrophy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0024457 True https://github.com/monarch-initiative/mondo/issues/204 owl:Class MONDO:0010530 biolink:NamedThing obsolete anus, imperforate tmpak2llvmy_mondo_relaxed.owl MONDO:0001046 True owl:Class MONDO:0019055 biolink:NamedThing obsolete mitochondrial disease tmpak2llvmy_mondo_relaxed.owl MONDO:0004069 True owl:Class MONDO:0000197 biolink:NamedThing obsolete singleton-Merten syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008429 True owl:Class MONDO:0044266 biolink:NamedThing obsolete xm system Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. tmpak2llvmy_mondo_relaxed.owl XM system HGNC:12813 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0015190 biolink:NamedThing obsolete leiomyosarcoma of small intestine tmpak2llvmy_mondo_relaxed.owl MONDO:0003360 True owl:Class MONDO:0000196 biolink:NamedThing obsolete ataxia-oculomotor apraxia tmpak2llvmy_mondo_relaxed.owl Based on genetic heterogeneity of OMIM 208920. True owl:Class MONDO:0006175 biolink:NamedThing obsolete craniopharyngioma tmpak2llvmy_mondo_relaxed.owl MONDO:0018907 True owl:Class MONDO:0015685 biolink:NamedThing obsolete peritoneal cystic mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006363 True owl:Class MONDO:0004654 biolink:NamedThing obsolete pyomyositis tmpak2llvmy_mondo_relaxed.owl MONDO:0019168 True owl:Class IAO:0000700 biolink:NamedThing has ontology root term Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root. tmpak2llvmy_mondo_relaxed.owl has ontology root term Nicolas Matentzoglu owl:AnnotationProperty MONDO:0023052 biolink:NamedThing obsolete ectrodactyly polydactyly tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0009156 True https://github.com/monarch-initiative/mondo/issues/2864 owl:Class MONDO:0018099 biolink:NamedThing obsolete Whipple disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005116 True owl:Class MONDO:0013701 biolink:NamedThing obsolete MRT32 tmpak2llvmy_mondo_relaxed.owl MONDO:0016396 Obsoleted in OMIM. True https://github.com/monarch-initiative/mondo/issues/1708 owl:Class MONDO:0022725 biolink:NamedThing obsolete chondrodysplasia lethal recessive tmpak2llvmy_mondo_relaxed.owl MONDO:0015425 This was a duplicate class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0003188 biolink:NamedThing obsolete juvenile myoclonic epilepsy tmpak2llvmy_mondo_relaxed.owl MONDO:0009696 True owl:Class MONDO:0007596 biolink:NamedThing obsolete factor VIII deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0010602 True owl:Class MONDO:0013861 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 17 tmpak2llvmy_mondo_relaxed.owl MONDO:0010936 merged in OMIM True https://github.com/monarch-initiative/mondo/issues/2577 owl:Class MONDO:0020617 biolink:NamedThing obsolete blood group--ok tmpak2llvmy_mondo_relaxed.owl OK|BLOOD GROUP--OK OMIM:111380 True owl:Class MONDO:0008190 biolink:NamedThing obsolete human papillomavirus type 18 integration site 1 tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/hgnc/5166 True owl:Class MONDO:0006431 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019462 True owl:Class MONDO:0005686 biolink:NamedThing obsolete Bunyaviridae infectious disease tmpak2llvmy_mondo_relaxed.owl MONDO:0021641 True owl:Class MONDO:0008851 biolink:NamedThing obsolete autism tmpak2llvmy_mondo_relaxed.owl MONDO:0005260 True owl:Class MONDO:0002835 biolink:NamedThing obsolete papillary transitional carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006350 True owl:Class MONDO:0003920 biolink:NamedThing obsolete gastric small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006229 True owl:Class MONDO:0019221 biolink:NamedThing obsolete creatine deficiency syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000456 True owl:Class MONDO:0000031 biolink:NamedThing obsolete fatty liver disease, nonalcoholic tmpak2llvmy_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0000574 biolink:NamedThing obsolete CD45 deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0015702 True owl:Class IAO:0000411 biolink:NamedThing is denotator type Relates an class defined in an ontology, to the type of it's denotator tmpak2llvmy_mondo_relaxed.owl In OWL 2 add AnnotationPropertyRange('is denotator type' 'denotator type') is denotator type Alan Ruttenberg owl:AnnotationProperty MONDO:0005793 biolink:NamedThing obsolete herpes simplex virus keratitis tmpak2llvmy_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0012616 biolink:NamedThing obsolete MRT8 tmpak2llvmy_mondo_relaxed.owl MONDO:0013676 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1706 owl:Class MONDO:0019185 biolink:NamedThing obsolete rhabdomyosarcoma tmpak2llvmy_mondo_relaxed.owl obsolete rhabdomyosarcoma (disease) obsolete rhabdomyosarcoma (disease) MONDO:0005212 True owl:Class MONDO:0001960 biolink:NamedThing obsolete Alpers syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008758 True owl:Class MONDO:0011388 biolink:NamedThing obsolete cervical cancer tmpak2llvmy_mondo_relaxed.owl cervical cancer True owl:Class RO:0002161 biolink:NamedThing never in taxon tmpak2llvmy_mondo_relaxed.owl RO:0002161 True True never_in_taxon owl:AnnotationProperty MONDO:0005353 biolink:NamedThing obsolete marijuana dependence The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. tmpak2llvmy_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0022423 biolink:NamedThing obsolete alpha-2 deficient collagen disease tmpak2llvmy_mondo_relaxed.owl MONDO:0008761 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class GO:0035947 biolink:NamedThing obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by regulation of transcription from Pol II promoter True owl:Class MONDO:0006433 biolink:NamedThing obsolete subcutaneous panniculitis-like T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019475 True owl:Class MONDO:0002591 biolink:NamedThing obsolete dendritic cell thymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016974 True owl:Class MONDO:0004704 biolink:NamedThing obsolete peroxisomal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019053 True owl:Class MONDO:0017707 biolink:NamedThing obsolete disorder of lipid metabolism tmpak2llvmy_mondo_relaxed.owl MONDO:0002525 True owl:Class MONDO:0006064 biolink:NamedThing obsolete lactose intolerance tmpak2llvmy_mondo_relaxed.owl MONDO:0009116 True owl:Class MONDO:0018300 biolink:NamedThing obsolete genetic hyperaldosteronism tmpak2llvmy_mondo_relaxed.owl MONDO:0016525 True owl:Class MONDO:0000174 biolink:NamedThing obsolete split-hand/foot malformation with long bone deficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000907 biolink:NamedThing obsolete amelogenesis imperfecta type 1C tmpak2llvmy_mondo_relaxed.owl MONDO:0008770 True owl:Class MONDO:0004138 biolink:NamedThing obsolete maxillary sinus adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006297 True owl:Class MONDO:0002873 biolink:NamedThing obsolete testicular germ cell tumor non-seminomatous tmpak2llvmy_mondo_relaxed.owl MONDO:0006447 True owl:Class MONDO:0002228 biolink:NamedThing obsolete malignant ovarian surface epithelial-stromal neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0018364 True owl:Class MONDO:0007065 biolink:NamedThing obsolete adenosine deaminase, elevated, hemolytic anemia due to tmpak2llvmy_mondo_relaxed.owl MONDO:0020458 True owl:Class MONDO:0013850 biolink:NamedThing obsolete periodic fever, menstrual cycle-dependent tmpak2llvmy_mondo_relaxed.owl MONDO:0044660 This term was a duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0006691 biolink:NamedThing obsolete causalgia tmpak2llvmy_mondo_relaxed.owl MONDO:0020572 True owl:Class MONDO:0010071 biolink:NamedThing obsolete spondyloenchondrodysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0011939 OMIM merged this term. True https://github.com/monarch-initiative/mondo/issues/1687 owl:Class MONDO:0009991 biolink:NamedThing obsolete Rh deficiency syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019107 True owl:Class MONDO:0017254 biolink:NamedThing obsolete posterior uveitis tmpak2llvmy_mondo_relaxed.owl obsolete posterior uveitis (disease) obsolete posterior uveitis (disease) MONDO:0001280 True owl:Class MONDO:0005474 biolink:NamedThing obsolete non-small cell lung adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005061 True owl:Class GO:0100017 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000900 biolink:NamedThing obsolete PTEN hamartoma tumor syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017623 True owl:Class MONDO:0016261 biolink:NamedThing obsolete sarcoma of the corpus uteri tmpak2llvmy_mondo_relaxed.owl MONDO:0005210 True owl:Class MONDO:0015156 biolink:NamedThing obsolete typhus-group rickettsiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0001246 True owl:Class MONDO:0000007 biolink:NamedThing obsolete atypical Mycobacteriosis, familial tmpak2llvmy_mondo_relaxed.owl OMIM 209950 lists 300636 and 300645 as other types of this disease. True owl:Class MONDO:0000069 biolink:NamedThing obsolete multiple endocrine neoplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0017169 True owl:Class MONDO:0004284 biolink:NamedThing obsolete malignant cystic nephroma tmpak2llvmy_mondo_relaxed.owl obsoleted as cystic neprhomas are benign True owl:Class MONDO:0018415 biolink:NamedThing obsolete hymenolepiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005802 True owl:Class MONDO:0021971 biolink:NamedThing obsolete Baraitser Rodeck garner syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009041 True owl:Class MONDO:0002573 biolink:NamedThing obsolete pleomorphic rhabdomyosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017386 True owl:Class MONDO:0003015 biolink:NamedThing obsolete malignant biphasic mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006109 True owl:Class MONDO:0003074 biolink:NamedThing obsolete familial retinoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018160 True owl:Class MONDO:0020515 biolink:NamedThing obsolete thymic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006451 True owl:Class MONDO:0000206 biolink:NamedThing obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL True owl:Class MONDO:0004157 biolink:NamedThing obsolete pancreatic mucinous cystadenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018523 True owl:Class MONDO:0003577 biolink:NamedThing obsolete cribriform carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006176 True owl:Class MONDO:0000512 biolink:NamedThing obsolete ameloblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017795 True owl:Class MONDO:0020810 biolink:NamedThing obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0020628 True https://github.com/monarch-initiative/mondo/issues/767 owl:Class MONDO:0006100 biolink:NamedThing obsolete Bartholin gland carcinoma tmpak2llvmy_mondo_relaxed.owl obsolete Bartholin gland carcinoma (disease) obsolete Bartholin gland carcinoma (disease) MONDO:0002829 True owl:Class MONDO:0015676 biolink:NamedThing obsolete hyperandrogenism due to cortisone reductase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0000193 True owl:Class MONDO:0000556 biolink:NamedThing obsolete autosomal recessive cerebellar ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0015244 True owl:Class MONDO:0015251 biolink:NamedThing obsolete balantidiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005662 True owl:Class MONDO:0006333 biolink:NamedThing obsolete ovarian dysgerminoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003481 True owl:Class MONDO:0015189 biolink:NamedThing obsolete adenocarcinoma of small instestine An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpak2llvmy_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0015750 biolink:NamedThing obsolete amelogenesis imperfecta-gingival hyperplasia syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0008771 Obsoleted in Orphanet and OMIM. True https://github.com/monarch-initiative/mondo/issues/3537 owl:Class GO:0044449 biolink:NamedThing obsolete contractile fiber part OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpak2llvmy_mondo_relaxed.owl contractile fibre component|muscle fibre component|muscle fiber component GO:0043292 True owl:Class MONDO:0002276 biolink:NamedThing obsolete arteriosclerotic cardiovascular disease tmpak2llvmy_mondo_relaxed.owl MONDO:0002277 True owl:Class MONDO:0005889 biolink:NamedThing obsolete orthomyxoviridae infectious disease tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0005812 True https://github.com/monarch-initiative/mondo/issues/3204 owl:Class MONDO:0012201 biolink:NamedThing obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum tmpak2llvmy_mondo_relaxed.owl MONDO:0011806 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1702 owl:Class MONDO:0015866 biolink:NamedThing obsolete malignant tumor of fallopian tubes tmpak2llvmy_mondo_relaxed.owl MONDO:0002158 True owl:Class MONDO:0011515 biolink:NamedThing obsolete papillary renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017884 True owl:Class MONDO:0004029 biolink:NamedThing obsolete ureter small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006482 True owl:Class MONDO:0019379 biolink:NamedThing obsolete st. Louis encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0005969 True owl:Class MONDO:0004342 biolink:NamedThing obsolete osteoclast-like giant cell neoplasm of the pancreas tmpak2llvmy_mondo_relaxed.owl MONDO:0006479 True owl:Class GO:0051195 biolink:NamedThing obsolete negative regulation of cofactor metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpak2llvmy_mondo_relaxed.owl inhibition of cofactor metabolic process|negative regulation of cofactor metabolism|down-regulation of cofactor metabolic process|down regulation of cofactor metabolic process|downregulation of cofactor metabolic process True owl:Class MONDO:0019442 biolink:NamedThing obsolete congenital toxoplasmosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005715 True owl:Class MONDO:0002344 biolink:NamedThing obsolete corneal dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0018102 True owl:Class MONDO:0009078 biolink:NamedThing obsolete Jervell and Lange-Nielsen syndrome tmpak2llvmy_mondo_relaxed.owl obsolete Jervell and Lange-Nielsen syndrome terms merged MONDO:0002441 True https://github.com/monarch-initiative/mondo/issues/3073 owl:Class MONDO:0018707 biolink:NamedThing obsolete clear cell sarcoma of kidney tmpak2llvmy_mondo_relaxed.owl MONDO:0005006 True owl:Class GO:0031933 biolink:NamedThing obsolete telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres. tmpak2llvmy_mondo_relaxed.owl telomeric chromatin True owl:Class MONDO:0019663 biolink:NamedThing obsolete short rib-polydactyly syndrome, Saldino-Noonan type tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0013127 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0010009 biolink:NamedThing obsolete SC phocomelia syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100282 This term was split into a combined parent class (Roberts-SC phocomelia syndrome) and the children classes. True https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0026754 biolink:NamedThing obsolete histidinuria-renal tubular defect syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009346 True owl:Class MONDO:0001677 biolink:NamedThing obsolete Rift valley fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017880 True owl:Class MONDO:0000010 biolink:NamedThing obsolete cerebrooculofacioskeletal syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008926 True owl:Class MONDO:0018917 biolink:NamedThing obsolete Marfan syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007947 True owl:Class MONDO:0004480 biolink:NamedThing obsolete pancreatic invasive intraductal papillary-mucinous carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004481 True owl:Class MONDO:0006568 biolink:NamedThing obsolete Kimura disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018830 True owl:Class MONDO:0002023 biolink:NamedThing obsolete cystic echinococcosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018408 True owl:Class MONDO:0000860 biolink:NamedThing obsolete neural tube defect tmpak2llvmy_mondo_relaxed.owl MONDO:0018075 True owl:Class MONDO:0007897 biolink:NamedThing obsolete leukemia, chronic lymphocytic tmpak2llvmy_mondo_relaxed.owl MONDO:0004948 True owl:Class MONDO:0004683 biolink:NamedThing obsolete Evans' syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016030 True owl:Class GO:0044420 biolink:NamedThing obsolete extracellular matrix component OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). tmpak2llvmy_mondo_relaxed.owl extracellular matrix part GO:0031012 True owl:Class MONDO:0002421 biolink:NamedThing obsolete chorioangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006375 True owl:Class MONDO:0002348 biolink:NamedThing obsolete chondrodysplasia punctata tmpak2llvmy_mondo_relaxed.owl MONDO:0019701 True owl:Class MONDO:0018049 biolink:NamedThing obsolete Kaposi sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005055 True owl:Class MONDO:0003823 biolink:NamedThing obsolete transient hypogammaglobulinemia of infancy tmpak2llvmy_mondo_relaxed.owl MONDO:0015698 True owl:Class MONDO:0001581 biolink:NamedThing obsolete tolosa-hunt syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018983 True owl:Class MONDO:0002248 biolink:NamedThing obsolete myeloproliferative neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0003703 biolink:NamedThing obsolete uterine corpus leiomyomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0003704 True owl:Class MONDO:0009023 biolink:NamedThing obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum tmpak2llvmy_mondo_relaxed.owl MONDO:0000902 True owl:Class MONDO:0000055 biolink:NamedThing obsolete major affective disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0004985 True owl:Class MONDO:0005107 biolink:NamedThing obsolete hepatocellular adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018902 True owl:Class MONDO:0014852 biolink:NamedThing obsolete palmoplantar carcinoma, multiple self-healing tmpak2llvmy_mondo_relaxed.owl MONDO:0014089 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1711 owl:Class MONDO:0006259 biolink:NamedThing obsolete juvenile xanthogranuloma tmpak2llvmy_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0000268 biolink:NamedThing obsolete lymphoid interstitial pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0009537 True owl:Class MONDO:0016388 biolink:NamedThing obsolete bone sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0021054 True owl:Class MONDO:0006675 biolink:NamedThing obsolete benign monoclonal gammopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0004225 True owl:Class MONDO:0000054 biolink:NamedThing obsolete macular dystrophy tmpak2llvmy_mondo_relaxed.owl obsolete macular dystrophy (disease) obsolete macular dystrophy (disease) MONDO:0020242 True owl:Class MONDO:0000202 biolink:NamedThing obsolete Heimler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100259 True owl:Class MONDO:0022418 biolink:NamedThing obsolete alopecia immunodeficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0011132 Editor note: removed from GARD, merged with MONDO:0011132 True owl:Class MONDO:0000542 biolink:NamedThing obsolete duodenum adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006187 True owl:Class MONDO:0022918 biolink:NamedThing obsolete cytokine deficiency A disease that has its basis in the disruption of cytokine activity. tmpak2llvmy_mondo_relaxed.owl disorder of cytokine activity|cytokine activity disease GARD:0009529 No children, was added to mirror existing term, there is no info in GARD and GARD plans to obsolete this term. HP:0011112 True https://github.com/monarch-initiative/mondo/issues/1576 owl:Class MONDO:0002161 biolink:NamedThing obsolete fallopian tube carcinosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006207 True owl:Class MONDO:0003488 biolink:NamedThing obsolete anal squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006082 True owl:Class GO:0044421 biolink:NamedThing obsolete extracellular region part OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. tmpak2llvmy_mondo_relaxed.owl extracellular structure GO:0005576 True owl:Class MONDO:0000760 biolink:NamedThing obsolete acrofacial dysostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018237 True owl:Class GO:0044445 biolink:NamedThing obsolete cytosolic part OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. tmpak2llvmy_mondo_relaxed.owl cytosol component GO:0005829 True owl:Class MONDO:0010715 biolink:NamedThing obsolete pseudohermaphroditism, incomplete male, type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0010720 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1697 owl:Class MONDO:0018909 biolink:NamedThing obsolete legionellosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005823 True owl:Class MONDO:0002992 biolink:NamedThing obsolete juvenile xanthogranuloma tmpak2llvmy_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0006943 biolink:NamedThing obsolete relapsing polychondritis tmpak2llvmy_mondo_relaxed.owl MONDO:0019125 True owl:Class MONDO:0000604 biolink:NamedThing obsolete autonomic peripheral neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:0001300 True owl:Class MONDO:0013958 biolink:NamedThing obsolete monocyte and dendritic cell deficiency, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MONDO:0009194 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1710 owl:Class MONDO:0008804 biolink:NamedThing obsolete anus, imperforate tmpak2llvmy_mondo_relaxed.owl MONDO:0010530 True owl:Class MONDO:0000861 biolink:NamedThing obsolete tubular aggregate myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0008051 True owl:Class MONDO:0021910 biolink:NamedThing obsolete aplasia cutis myopia tmpak2llvmy_mondo_relaxed.owl MONDO:0010988 True owl:Class MONDO:0024254 biolink:NamedThing obsolete vibratory angioedema tmpak2llvmy_mondo_relaxed.owl MONDO:0008657 True owl:Class MONDO:0000053 biolink:NamedThing obsolete macroglobulinemia, Waldenstrom tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0045031 biolink:NamedThing obsolete infectious diarrheal disease tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0001517 True https://github.com/monarch-initiative/mondo/issues/3703 owl:Class MONDO:0016300 biolink:NamedThing obsolete transposition of the great arteries tmpak2llvmy_mondo_relaxed.owl MONDO:0000153 True owl:Class MONDO:0002827 biolink:NamedThing obsolete urinary system cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006295 True owl:Class MONDO:0000714 biolink:NamedThing obsolete crest syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019563 True owl:Class MONDO:0006501 biolink:NamedThing obsolete inflammatory skin disease tmpak2llvmy_mondo_relaxed.owl MONDO:0002406 Duplicate True https://github.com/monarch-initiative/mondo/issues/377 owl:Class MONDO:0016339 biolink:NamedThing obsolete restrictive cardiomyopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0005201 True owl:Class MONDO:0003102 biolink:NamedThing obsolete perineurioma tmpak2llvmy_mondo_relaxed.owl MONDO:0019404 True owl:Class GO:0044444 biolink:NamedThing obsolete cytoplasmic part OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpak2llvmy_mondo_relaxed.owl cytoplasm component GO:0005737 True owl:Class MONDO:0015266 biolink:NamedThing obsolete brucellosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005683 True owl:Class MONDO:0006768 biolink:NamedThing obsolete gastric outlet obstruction Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpak2llvmy_mondo_relaxed.owl MONDO:0001561 True owl:Class MONDO:0004300 biolink:NamedThing obsolete intracortical osteogenic sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002631 True owl:Class MONDO:0011791 biolink:NamedThing obsolete deafness, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MONDO:0019588 True owl:Class GO:0035949 biolink:NamedThing obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter True owl:Class MONDO:0019974 biolink:NamedThing obsolete postencephalitic parkinsonism tmpak2llvmy_mondo_relaxed.owl MONDO:0001945 True owl:Class MONDO:0006113 biolink:NamedThing obsolete bladder small cell neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0019069 biolink:NamedThing obsolete rhabdoid tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0002728 True owl:Class MONDO:0002593 biolink:NamedThing obsolete thymic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020515 True owl:Class MONDO:0007567 biolink:NamedThing obsolete Epstein-Barr virus insertion site 1 tmpak2llvmy_mondo_relaxed.owl EBVS1|Epstein-Barr VIRUS insertion site 1|Epstein-Barr Virus integration site|Epstein-Barr virus insertion site 1|Epstein-Barr Virus insertion site type 1 OMIM:132850 Not a disease but a genomic locus. True https://github.com/monarch-initiative/mondo/issues/1633 owl:Class MONDO:0002906 biolink:NamedThing obsolete scleroderma tmpak2llvmy_mondo_relaxed.owl MONDO:0019340 True owl:Class MONDO:0000046 biolink:NamedThing obsolete hypouricemia, renal tmpak2llvmy_mondo_relaxed.owl See text of OMIM 220150, does not include 307830. True owl:Class MONDO:0002054 biolink:NamedThing obsolete breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0007254 True owl:Class MONDO:0006503 biolink:NamedThing obsolete episodic ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0016227 True owl:Class GO:0072363 biolink:NamedThing obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0019163 biolink:NamedThing obsolete pseudoxanthoma elasticum tmpak2llvmy_mondo_relaxed.owl MONDO:0009925 True owl:Class MONDO:0006538 biolink:NamedThing obsolete dermatitis herpetiformis tmpak2llvmy_mondo_relaxed.owl MONDO:0015614 True owl:Class MONDO:0012356 biolink:NamedThing obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class MONDO:0006724 biolink:NamedThing obsolete desmoplastic small round cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0019373 True owl:Class MONDO:0016640 biolink:NamedThing obsolete fibrous dysplasia of bone tmpak2llvmy_mondo_relaxed.owl MONDO:0000845 Appears to be same concept as MONDO:0000845, fibrous dysplasia. True https://github.com/monarch-initiative/mondo/issues/2462 owl:Class MONDO:0006342 biolink:NamedThing obsolete ovarian squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003494 True owl:Class MONDO:0008657 biolink:NamedThing obsolete vibratory angioedema tmpak2llvmy_mondo_relaxed.owl MONDO:0007447 OMIM obsoleted this term and merged it with autosomal dominant vibratory urticaria. True https://github.com/monarch-initiative/mondo/issues/1684 owl:Class MONDO:0002841 biolink:NamedThing obsolete eosinophilic gastroenteritis tmpak2llvmy_mondo_relaxed.owl MONDO:0016129 True owl:Class MONDO:0100139 biolink:NamedThing obsolete asymptomatic COVID-19 infection A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. tmpak2llvmy_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0011495 biolink:NamedThing obsolete Langerhans-cell histiocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0000689 biolink:NamedThing obsolete survival motor neuron spinal muscular atrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0009669 True owl:Class MONDO:0000719 biolink:NamedThing obsolete Baraitser-winter syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017579 True owl:Class MONDO:0018196 biolink:NamedThing obsolete germ cell tumor of testis tmpak2llvmy_mondo_relaxed.owl MONDO:0010108 True owl:Class MONDO:0014812 biolink:NamedThing obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018820 True https://github.com/monarch-initiative/mondo/issues/3089 owl:Class MONDO:0018641 biolink:NamedThing obsolete paroxysmal nocturnal hemoglobinuria tmpak2llvmy_mondo_relaxed.owl MONDO:0100245 Split this term to create a grouping class with acquired and inherited forms as children. True owl:Class MONDO:0005389 biolink:NamedThing obsolete sclerosing cholangitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018646 True owl:Class MONDO:0000523 biolink:NamedThing obsolete conjunctival nevus tmpak2llvmy_mondo_relaxed.owl MONDO:0006172 True owl:Class IAO:0006011 biolink:NamedThing may be identical to A annotation relationship between two terms in an ontology that may refer to the same (natural) type but where more evidence is required before terms are merged. tmpak2llvmy_mondo_relaxed.owl #40 VFB Edges asserting this should be annotated with to record evidence supporting the assertion and its provenance. may be identical to David Osumi-Sutherland owl:AnnotationProperty MONDO:0008784 biolink:NamedThing obsolete autoimmune hemolytic anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020108 True owl:Class MONDO:0015598 biolink:NamedThing obsolete acrodermatitis continua suppurativa of Hallopeau tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0018074 biolink:NamedThing obsolete American trypanosomiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0001444 True owl:Class MONDO:0019961 biolink:NamedThing obsolete somatostatinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006976 True owl:Class MONDO:0000036 biolink:NamedThing obsolete hemolytic anemia, nonspherocytic tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000484 biolink:NamedThing obsolete oromandibular dystonia tmpak2llvmy_mondo_relaxed.owl MONDO:0019771 True owl:Class MONDO:0006870 biolink:NamedThing obsolete noma tmpak2llvmy_mondo_relaxed.owl MONDO:0017124 True owl:Class MONDO:0024404 biolink:NamedThing obsolete meningitis caused by anaerobic bacteria tmpak2llvmy_mondo_relaxed.owl MONDO:0002000 True owl:Class MONDO:0000012 biolink:NamedThing obsolete choreoathetosis tmpak2llvmy_mondo_relaxed.owl obsolete choreoathetosis (disease) obsolete choreoathetosis (disease) True owl:Class MONDO:0006148 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019451 True owl:Class MONDO:0044924 biolink:NamedThing obsolete acute myeloid leukemia with mutated CEBPA tmpak2llvmy_mondo_relaxed.owl MONDO:0017894 NCIT noted acute myeloid leukemia with mutated CEBPA and acute myeloid leukemia with CEBPA somatic mutations are synonyms, they should be merged. True https://github.com/monarch-initiative/mondo/issues/366 owl:Class MONDO:0002774 biolink:NamedThing obsolete chordoid glioma tmpak2llvmy_mondo_relaxed.owl MONDO:0016706 True owl:Class MONDO:0015373 biolink:NamedThing obsolete Saldino-Mainzer syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009964 True https://github.com/monarch-initiative/mondo/issues/1624 owl:Class MONDO:0003183 biolink:NamedThing obsolete trachea adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006471 True owl:Class MONDO:0000566 biolink:NamedThing obsolete substance withdrawal disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0005567 True owl:Class MONDO:0004424 biolink:NamedThing obsolete familial glomangioma tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0007672 True https://github.com/monarch-initiative/mondo/issues/3168 owl:Class MONDO:0000538 biolink:NamedThing obsolete spindle epithelial tumor with thymus-like differentiation tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006466 True owl:Class MONDO:0034082 biolink:NamedThing obsolete necrobiosis lipoidica tmpak2llvmy_mondo_relaxed.owl MONDO:0006583 True owl:Class MONDO:0020536 biolink:NamedThing obsolete pigeon-breeder lung disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005668 This term is too granulalr and was merged with bird fancier's lung. True https://github.com/monarch-initiative/mondo/issues/385 owl:Class MONDO:0007731 biolink:NamedThing obsolete HLA modifier tmpak2llvmy_mondo_relaxed.owl HLA modifier UMLS:C1840550|OMIM:142770 True owl:Class MONDO:0003533 biolink:NamedThing obsolete gastric papillary adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006228 True owl:Class MONDO:0010387 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0010386 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class MONDO:0003527 biolink:NamedThing obsolete Ferguson-Smith tumor A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. tmpak2llvmy_mondo_relaxed.owl MONDO:0007566 True owl:Class MONDO:0004123 biolink:NamedThing obsolete laryngeal small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006265 True owl:Class MONDO:0005702 biolink:NamedThing obsolete chromoblastomycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. tmpak2llvmy_mondo_relaxed.owl MONDO:0015908 True owl:Class MONDO:0000081 biolink:NamedThing obsolete ovarian dysgenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0009299 True owl:Class MONDO:0000194 biolink:NamedThing obsolete Otofaciocervical syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008163 True owl:Class MONDO:0016021 biolink:NamedThing obsolete early infantile epileptic encephalopathy tmpak2llvmy_mondo_relaxed.owl obsolete early infantile epileptic encephalopathy MONDO:0100062 This term will be renamed to 'developmental epileptic encephalopathy' in OMIM. True https://github.com/monarch-initiative/mondo/issues/2027 owl:Class MONDO:0011769 biolink:NamedThing obsolete familial aortic dissection tmpak2llvmy_mondo_relaxed.owl MONDO:0019625 True https://github.com/monarch-initiative/mondo/issues/408 owl:Class MONDO:0005423 biolink:NamedThing obsolete pelvic organ prolapse tmpak2llvmy_mondo_relaxed.owl MONDO:0000082 True owl:Class MONDO:0012234 biolink:NamedThing obsolete LFS3 tmpak2llvmy_mondo_relaxed.owl MONDO:0007903 True owl:Class MONDO:0002084 biolink:NamedThing obsolete neuroectodermal tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0005462 True owl:Class MONDO:0100411 biolink:NamedThing obsolete acute myeloid leukemia, NPM1 gene mutation tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0044923 True https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0000619 biolink:NamedThing obsolete triple-receptor negative breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0005494 True owl:Class MONDO:0005261 biolink:NamedThing obsolete pervasive developmental disorder - not otherwise specified tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0005258 True https://github.com/monarch-initiative/mondo/issues/2505 owl:Class MONDO:0003415 biolink:NamedThing obsolete hemoglobin d disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019537 True owl:Class MONDO:0000896 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0006148 True owl:Class MONDO:0003242 biolink:NamedThing obsolete fibrolamellar carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0005897 biolink:NamedThing obsolete paratyphoid fever tmpak2llvmy_mondo_relaxed.owl MONDO:0018626 True owl:Class MONDO:0015202 biolink:NamedThing obsolete babesiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005661 True owl:Class excluded_from_qc_check biolink:NamedThing excluded from QC check tmpak2llvmy_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0003416 biolink:NamedThing obsolete hemoglobin E disease tmpak2llvmy_mondo_relaxed.owl MONDO:0016243 True owl:Class MONDO:0004814 biolink:NamedThing obsolete vascular skin disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019293 True owl:Class MONDO:0018297 biolink:NamedThing obsolete hypotonia-speech impairment-severe cognitive delay syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0014176 True https://github.com/monarch-initiative/mondo/issues/3417 owl:Class MONDO:0014964 biolink:NamedThing obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum tmpak2llvmy_mondo_relaxed.owl MONDO:0044646 True https://github.com/monarch-initiative/mondo/issues/1623 owl:Class MONDO:0003817 biolink:NamedThing obsolete peritoneal serous papillary adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018368 True https://github.com/monarch-initiative/mondo/issues/392 owl:Class IAO:0000112 biolink:NamedThing example of usage A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold. tmpak2llvmy_mondo_relaxed.owl GROUP:OBI: example of usage PERSON:Daniel Schober owl:AnnotationProperty GO:0100032 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0001477 biolink:NamedThing obsolete aniridia tmpak2llvmy_mondo_relaxed.owl MONDO:0019172 True owl:Class MONDO:0000217 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0010593 True owl:Class GO:0100025 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000806 biolink:NamedThing obsolete horned turban snail allergy A allergy involving a Turbo cornutus. tmpak2llvmy_mondo_relaxed.owl allergy of Turbo cornutus|Turbo cornutus allergy|Turbo cornutus caused allergic disease|Turbo cornutus allergic disease MONDO:outOfScope DOID:0060531 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0000198 biolink:NamedThing obsolete linear skin defects with multiple congenital anomalies tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000560 biolink:NamedThing obsolete spinocerebellar ataxia type 4 tmpak2llvmy_mondo_relaxed.owl MONDO:0010847 True owl:Class MONDO:0007326 biolink:NamedThing obsolete paroxysmal nonkinesigenic dyskinesia 1 tmpak2llvmy_mondo_relaxed.owl term split MONDO:0700089 True https://github.com/monarch-initiative/mondo/issues/3265 owl:Class GO:0100036 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002611 biolink:NamedThing obsolete benign epilepsy with centrotemporal spikes tmpak2llvmy_mondo_relaxed.owl MONDO:0007295 True owl:Class MONDO:0004998 biolink:NamedThing obsolete chondromyxoid fibroma tmpak2llvmy_mondo_relaxed.owl MONDO:0018447 True owl:Class MONDO:0001333 biolink:NamedThing obsolete Patau syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018068 True owl:Class GO:0044428 biolink:NamedThing obsolete nuclear part OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. tmpak2llvmy_mondo_relaxed.owl nucleus component|nuclear subcomponent GO:0005634 True owl:Class MONDO:0006332 biolink:NamedThing obsolete ovarian choriocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003507 True owl:Class MONDO:0002700 biolink:NamedThing obsolete epithelioid trophoblastic tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0016787 True owl:Class MONDO:0019966 biolink:NamedThing obsolete thoracic outlet syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0005979 True owl:Class MONDO:0100007 biolink:NamedThing obsolete chronic inflammatory demyelinating polyneuropathy tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0006702 True https://github.com/monarch-initiative/mondo/issues/3697 owl:Class MONDO:0034122 biolink:NamedThing obsolete NAD(P)HX epimerase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0014960 True owl:Class MONDO:0004121 biolink:NamedThing obsolete prostate small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006390 True owl:Class OIO:creation_date biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0019958 biolink:NamedThing obsolete insulinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005048 True owl:Class MONDO:0012070 biolink:NamedThing obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G tmpak2llvmy_mondo_relaxed.owl MONDO:0013753 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1701 owl:Class GO:0097458 biolink:NamedThing obsolete neuron part OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpak2llvmy_mondo_relaxed.owl CL:0000540 True owl:Class MONDO:0000076 biolink:NamedThing obsolete neuropathy, hereditary sensory and autonomic tmpak2llvmy_mondo_relaxed.owl MONDO:0015364 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0011293 biolink:NamedThing obsolete Homocysteinemia tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0004743 True https://github.com/monarch-initiative/mondo/issues/3247 owl:Class MONDO:0000176 biolink:NamedThing obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019375 True owl:Class IAO:0000600 biolink:NamedThing elucidation tmpak2llvmy_mondo_relaxed.owl Person:Barry Smith elucidation Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms person:Alan Ruttenberg owl:AnnotationProperty MONDO:0005646 biolink:NamedThing obsolete anisakiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0015200 True owl:Class urn:swrl#g2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006070 biolink:NamedThing obsolete acute leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0010643 True owl:Class MONDO:0000729 biolink:NamedThing obsolete congenital ptosis tmpak2llvmy_mondo_relaxed.owl MONDO:0008340 True owl:Class MONDO:0001980 biolink:NamedThing obsolete Wolman disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019148 True owl:Class IAO:0000421 biolink:NamedThing named class expression A named class expression is a logical expression that is given a name. The name can be used in place of the expression.|A named class expression is a logical expression that is given a name. The name can be used in place of the expression. tmpak2llvmy_mondo_relaxed.owl named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions|named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions named class expression Alan Ruttenberg|Alan Ruttenberg owl:NamedIndividual MONDO:0006305 biolink:NamedThing obsolete mixed cell uveal melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003910 True owl:Class MONDO:0010240 biolink:NamedThing obsolete androgen insensitivity syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019154 True owl:Class MONDO:0018012 biolink:NamedThing obsolete tetanus tmpak2llvmy_mondo_relaxed.owl MONDO:0005526 True owl:Class GO:0100018 biolink:NamedThing obsolete regulation of glucose import by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0016023 biolink:NamedThing obsolete ocular coloboma tmpak2llvmy_mondo_relaxed.owl MONDO:0001476 Obsolete in Orphanet. True https://github.com/monarch-initiative/mondo/issues/391 owl:Class MONDO:0003006 biolink:NamedThing obsolete Bartter disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015231 True owl:Class MONDO:0016245 biolink:NamedThing obsolete ovarian cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0008170 True owl:Class MONDO:0003228 biolink:NamedThing obsolete myelodysplastic/myeloproliferative neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0006311 True owl:Class MONDO:0016257 biolink:NamedThing obsolete adenosarcoma of the corpus uteri tmpak2llvmy_mondo_relaxed.owl MONDO:0002878 Duplicate True https://github.com/monarch-initiative/mondo/issues/372 owl:Class MONDO:0006445 biolink:NamedThing obsolete testicular choriocarcinoma A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpak2llvmy_mondo_relaxed.owl MONDO:0003508 True owl:Class MONDO:0017820 biolink:NamedThing obsolete obsolete disease with Cushing syndrome as a major feature A disease in which Cushing syndrome is a major feature. tmpak2llvmy_mondo_relaxed.owl rare disease with Cushing syndrome as a major feature MONDO:outOfScope This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. Orphanet:314749|UMLS:CN203791 True https://github.com/monarch-initiative/mondo/issues/1522|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0006299 biolink:NamedThing obsolete mediastinal neuroblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0001095 True owl:Class MONDO:0018785 biolink:NamedThing obsolete nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpak2llvmy_mondo_relaxed.owl MONDO:0004187 True owl:Class IAO:0000420 biolink:NamedThing defined class A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal|A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal tmpak2llvmy_mondo_relaxed.owl "definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal.|"definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal. defined class Alan Ruttenberg|Alan Ruttenberg IAO:0000409 MONDO:0000300 biolink:NamedThing obsolete tungiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0019498 True owl:Class MONDO:0000436 biolink:NamedThing obsolete T-cell large granular lymphocyte leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019469 True owl:Class IAO:0000598 biolink:NamedThing has ID policy for Relating an ontology used to record id policy to the ontology namespace whose policy it manages tmpak2llvmy_mondo_relaxed.owl has ID policy for Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0006818 biolink:NamedThing obsolete keratoconjunctivitis sicca tmpak2llvmy_mondo_relaxed.owl MONDO:0006733 True owl:Class MONDO:0000737 biolink:NamedThing obsolete megalocornea tmpak2llvmy_mondo_relaxed.owl MONDO:0009576 True owl:Class MONDO:0021051 biolink:NamedThing obsolete hemophagocytic syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015540 True owl:Class MONDO:0015561 biolink:NamedThing obsolete aleukemic mast cell leukemia tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/3084 owl:Class MONDO:0000656 biolink:NamedThing obsolete alpha chain disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015045 True owl:Class MONDO:0002389 biolink:NamedThing obsolete adenofibroma tmpak2llvmy_mondo_relaxed.owl MONDO:0006071 True owl:Class MONDO:0002521 biolink:NamedThing obsolete multiple symmetrical lipomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0007908 True owl:Class MONDO:0006399 biolink:NamedThing obsolete rhabdoid tumor of the kidney tmpak2llvmy_mondo_relaxed.owl MONDO:0002729 True owl:Class MONDO:0003696 biolink:NamedThing obsolete meningeal melanocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016746 True owl:Class MONDO:0000392 biolink:NamedThing obsolete fetal alcohol syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016011 True owl:Class MONDO:0002231 biolink:NamedThing obsolete malignant ovarian germ cell neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0018171 True owl:Class MONDO:0000472 biolink:NamedThing obsolete rheumatic heart disease tmpak2llvmy_mondo_relaxed.owl MONDO:0006955 True owl:Class MONDO:0003146 biolink:NamedThing obsolete ependymoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016715 True owl:Class MONDO:0019001 biolink:NamedThing obsolete biotin-responsive basal ganglia disease tmpak2llvmy_mondo_relaxed.owl MONDO:0011841 True owl:Class MONDO:0001354 biolink:NamedThing obsolete acute endophthalmitis tmpak2llvmy_mondo_relaxed.owl MONDO:0017202 True owl:Class MONDO:0013126 biolink:NamedThing obsolete Bartter syndrome, type 4B tmpak2llvmy_mondo_relaxed.owl MONDO:0000909 True owl:Class MONDO:0002001 biolink:NamedThing obsolete disease of cellular proliferation tmpak2llvmy_mondo_relaxed.owl MONDO:0005070 True owl:Class MONDO:0016714 biolink:NamedThing obsolete ganglioneuroblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005035 True owl:Class MONDO:0003149 biolink:NamedThing obsolete aggressive systemic mastocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0020333 True owl:Class MONDO:0008112 biolink:NamedThing obsolete Goldenhar syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015397 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2358 owl:Class MONDO:0008820 biolink:NamedThing obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0014243 True https://github.com/monarch-initiative/mondo/issues/2836 owl:Class MONDO:0000223 biolink:NamedThing obsolete chikungunya tmpak2llvmy_mondo_relaxed.owl MONDO:0017941 True owl:Class MONDO:0000157 biolink:NamedThing obsolete episodic pain syndrome, familial tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003226 biolink:NamedThing obsolete Nelson syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016035 True owl:Class dc:identifier biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006263 biolink:NamedThing obsolete Langerhans cell histiocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0008897 biolink:NamedThing obsolete tumoral calcinosis, hyperphosphatemic, familial, 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0100251 Split this term into the more general Orphanet class and more specific OMIM term. True https://github.com/monarch-initiative/mondo/issues/962 owl:Class MONDO:0001948 biolink:NamedThing obsolete Riedel's fibrosing thyroiditis tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018992 True https://github.com/monarch-initiative/mondo/issues/2980 owl:Class MONDO:0000658 biolink:NamedThing obsolete mu chain disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015044 True owl:Class MONDO:0009981 biolink:NamedThing obsolete retinitis pigmentosa type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0008377 True owl:Class MONDO:0000768 biolink:NamedThing obsolete Zika fever tmpak2llvmy_mondo_relaxed.owl MONDO:0018661 True owl:Class MONDO:0023217 biolink:NamedThing obsolete gastro-enteropancreatic neuroendocrine tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0015078 True owl:Class MONDO:0015543 biolink:NamedThing obsolete hemophagocytic syndrome associated with an infection tmpak2llvmy_mondo_relaxed.owl out of scope MONDO:0015542 True owl:Class MONDO:0001968 biolink:NamedThing obsolete 46 XY gonadal dysgenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0010765 True owl:Class MONDO:0000609 biolink:NamedThing obsolete sideroblastic anemia with spinocerebellar ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0010524 True owl:Class MONDO:0024385 biolink:NamedThing obsolete arenavirus infectious disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005650 True owl:Class GO:0004871 biolink:NamedThing obsolete signal transducer activity OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpak2llvmy_mondo_relaxed.owl hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing response regulator activity|quorum sensing signal generator activity True owl:Class MONDO:0003167 biolink:NamedThing obsolete pleomorphic xanthoastrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016690 True owl:Class MONDO:0019217 biolink:NamedThing obsolete inborn disorder of urea cycle metabolism and ammonia detoxification tmpak2llvmy_mondo_relaxed.owl MONDO:0004739 duplicate True https://github.com/monarch-initiative/mondo/issues/1572 owl:Class MONDO:0000759 biolink:NamedThing obsolete acrorenal syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007059 True owl:Class MONDO:0021247 biolink:NamedThing obsolete renal pelvis neoplasm tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0010845 biolink:NamedThing obsolete macrothrombocytopenia and progressive sensorineural deafness tmpak2llvmy_mondo_relaxed.owl MONDO:0007954 True owl:Class MONDO:0000366 biolink:NamedThing obsolete glycogen storage disease IX tmpak2llvmy_mondo_relaxed.owl MONDO:0018251 True owl:Class MONDO:0004887 biolink:NamedThing obsolete polyarteritis nodosa tmpak2llvmy_mondo_relaxed.owl MONDO:0019170 True owl:Class MONDO:0021909 biolink:NamedThing obsolete aplasia cutis congenita recessive tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0007145 True owl:Class MONDO:0015098 biolink:NamedThing obsolete situs inversus totalis tmpak2llvmy_mondo_relaxed.owl obsolete situs inversus totalis (disease) obsolete situs inversus totalis (disease) MONDO:0010029 True owl:Class MONDO:0020700 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpak2llvmy_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0006776 biolink:NamedThing obsolete hairy cell leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018935 True owl:Class MONDO:0000094 biolink:NamedThing obsolete spherocytosis tmpak2llvmy_mondo_relaxed.owl obsolete spherocytosis (disease)|spherocytosis obsolete spherocytosis (disease) HP:0004444 True owl:Class MONDO:0003807 biolink:NamedThing obsolete follicular thyroid adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005032 True owl:Class MONDO:0000011 biolink:NamedThing obsolete chondrodysplasia tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0005782 biolink:NamedThing obsolete HELLP syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008585 True owl:Class MONDO:0010372 biolink:NamedThing obsolete Clark-Baraitser syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0030914 These were merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/2457 owl:Class GO:0051193 biolink:NamedThing obsolete regulation of cofactor metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpak2llvmy_mondo_relaxed.owl regulation of cofactor metabolism True owl:Class MONDO:0022605 biolink:NamedThing obsolete brachymetapody anodontia hypotrichosis albinoidism tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0008884 True https://github.com/monarch-initiative/mondo/issues/3687 owl:Class MONDO:0005088 biolink:NamedThing obsolete rheumatoid arthritis tmpak2llvmy_mondo_relaxed.owl MONDO:0008383 True owl:Class MONDO:0002384 biolink:NamedThing obsolete transitional cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006474 True owl:Class MONDO:0005305 biolink:NamedThing obsolete epistaxis tmpak2llvmy_mondo_relaxed.owl HP:0000421 True https://github.com/monarch-initiative/mondo/issues/924 owl:Class MONDO:0000720 biolink:NamedThing obsolete basal ganglia calcification tmpak2llvmy_mondo_relaxed.owl MONDO:0008947 True owl:Class MONDO:0005587 biolink:NamedThing obsolete non-Hodgkins lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018908 True owl:Class MONDO:0011447 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpak2llvmy_mondo_relaxed.owl MONDO:0000215 True owl:Class GO:2001275 biolink:NamedThing obsolete positive regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl positive regulation of cellular glucose import in response to insulin stimulus True owl:Class rdfs:seeAlso biolink:NamedThing seeAlso tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2000/01/rdf-schema#seeAlso True True seeAlso owl:AnnotationProperty MONDO:0005000 biolink:NamedThing obsolete chromophobe renal cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017885 True owl:Class MONDO:0018915 biolink:NamedThing obsolete pneumococcal meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006913 True owl:Class MONDO:0003229 biolink:NamedThing obsolete lymphedema tmpak2llvmy_mondo_relaxed.owl MONDO:0019297 True owl:Class MONDO:0005653 biolink:NamedThing obsolete asbestosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016466 True owl:Class MONDO:0006819 biolink:NamedThing obsolete kernicterus tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018477 True https://github.com/monarch-initiative/mondo/issues/3604 owl:Class MONDO:0015754 biolink:NamedThing obsolete cylindrical spirals myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0008058 True owl:Class MONDO:0002986 biolink:NamedThing obsolete neuromuscular disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019056 True owl:Class MONDO:0007117 biolink:NamedThing obsolete angioedema, hereditary, type 1/2 tmpak2llvmy_mondo_relaxed.owl MONDO:0033946 True https://github.com/monarch-initiative/mondo/issues/1628 owl:Class MONDO:0000074 biolink:NamedThing obsolete neurodegeneration with brain iron accumulation tmpak2llvmy_mondo_relaxed.owl MONDO:0018307 True owl:Class MONDO:0009730 biolink:NamedThing obsolete nephrosialidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0009738 True owl:Class MONDO:0003418 biolink:NamedThing obsolete bile duct adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006108 True owl:Class MONDO:0018331 biolink:NamedThing obsolete rare genetic dystonia tmpak2llvmy_mondo_relaxed.owl MONDO:0044807 True owl:Class MONDO:0006449 biolink:NamedThing obsolete testicular yolk sac tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003402 True owl:Class MONDO:0016753 biolink:NamedThing obsolete benign schwannoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0007611 biolink:NamedThing obsolete Zimmermann-Laband syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000200 True owl:Class ENVO:00002297 biolink:NamedThing obsolete environmental feature OBSOLETE A material entity which determines an environmental system. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0019331 biolink:NamedThing obsolete rare form of salmonellosis tmpak2llvmy_mondo_relaxed.owl MONDO:0000827 We want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/1747 owl:Class MONDO:0019106 biolink:NamedThing obsolete disseminated peritoneal leiomyomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0000086 biolink:NamedThing obsolete polydactyly, preaxial tmpak2llvmy_mondo_relaxed.owl MONDO:0017425 True owl:Class MONDO:0002524 biolink:NamedThing obsolete hyperlipoproteinemia type III tmpak2llvmy_mondo_relaxed.owl MONDO:0018473 True owl:Class MONDO:0003981 biolink:NamedThing obsolete cervix small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006142 True owl:Class MONDO:0003485 biolink:NamedThing obsolete colon squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018513 True owl:Class MONDO:0015460 biolink:NamedThing obsolete adrenocortical carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpak2llvmy_mondo_relaxed.owl MONDO:0006639 True owl:Class MONDO:0006457 biolink:NamedThing obsolete thymoma type AB tmpak2llvmy_mondo_relaxed.owl MONDO:0016975 True owl:Class MONDO:0010766 biolink:NamedThing obsolete 46,XX sex reversal 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0100250 Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045). True owl:Class MONDO:0017911 biolink:NamedThing obsolete cleft lip/palate-ectodermal dysplasia syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009151 True owl:Class MONDO:0004839 biolink:NamedThing obsolete neurofibroma tmpak2llvmy_mondo_relaxed.owl MONDO:0016755 True owl:Class ENVO:00003075 biolink:NamedThing obsolete anthropogenic abiotic mesoscopic feature tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000846 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0009031 True owl:Class MONDO:0004119 biolink:NamedThing obsolete endometrial small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006197 True owl:Class MONDO:0002390 biolink:NamedThing obsolete ossifying fibromyxoid tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006330 True owl:Class MONDO:0000149 biolink:NamedThing obsolete retinopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0005283 True owl:Class http://www.w3.org/2004/02/skos/core#closeMatch biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005428 biolink:NamedThing obsolete pemphigus vulgaris tmpak2llvmy_mondo_relaxed.owl MONDO:0008219 True owl:Class MONDO:0005038 biolink:NamedThing obsolete genetic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0003847 True owl:Class MONDO:0021044 biolink:NamedThing obsolete Wilms tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpak2llvmy_mondo_relaxed.owl MONDO:0006058 True owl:Class MONDO:0011623 biolink:NamedThing obsolete spinocerebellar ataxia, autosomal recessive 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0018996 duplicate True https://github.com/monarch-initiative/mondo/issues/48 owl:Class MONDO:0005760 biolink:NamedThing obsolete fibroepithelial neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0021045 True owl:Class GO:0051188 biolink:NamedThing obsolete cofactor biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein. tmpak2llvmy_mondo_relaxed.owl cofactor synthesis|cofactor biosynthesis|cofactor formation|cofactor anabolism True owl:Class MONDO:0004068 biolink:NamedThing obsolete disease of anatomical entity tmpak2llvmy_mondo_relaxed.owl MONDO:0000001 True owl:Class MONDO:0018427 biolink:NamedThing obsolete fibrolamellar carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0007929 biolink:NamedThing obsolete Epstein syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007954 True https://github.com/monarch-initiative/mondo/issues/396 owl:Class MONDO:0000219 biolink:NamedThing obsolete uncombable hair syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008621 True owl:Class MONDO:0000855 biolink:NamedThing obsolete acromesomelic dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0019696 True owl:Class MONDO:0022469 biolink:NamedThing obsolete aortic arches defect tmpak2llvmy_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0015236 True owl:Class MONDO:0009289 biolink:NamedThing obsolete glycogen storage disease IC tmpak2llvmy_mondo_relaxed.owl MONDO:0009288 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i True owl:Class MONDO:0003559 biolink:NamedThing obsolete cervical adenosquamous carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006134 True owl:Class MONDO:0006991 biolink:NamedThing obsolete sympathetic ophthalmia tmpak2llvmy_mondo_relaxed.owl MONDO:0019198 True owl:Class MONDO:0003511 biolink:NamedThing obsolete testicular germ cell cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0010108 True owl:Class MONDO:0004228 biolink:NamedThing obsolete hypogonadotropism tmpak2llvmy_mondo_relaxed.owl MONDO:0018555 True owl:Class MONDO:0002011 biolink:NamedThing obsolete hereditary angioedema tmpak2llvmy_mondo_relaxed.owl MONDO:0019623 True owl:Class MONDO:0017367 biolink:NamedThing obsolete kindler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008260 True owl:Class MONDO:0015671 biolink:NamedThing obsolete diphtheria tmpak2llvmy_mondo_relaxed.owl MONDO:0005504 True owl:Class MONDO:0009639 biolink:NamedThing obsolete mitochondrial myopathy with lactic acidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016825 True owl:Class MONDO:0000264 biolink:NamedThing obsolete Pontiac fever tmpak2llvmy_mondo_relaxed.owl MONDO:0020487 True owl:Class MONDO:0000305 biolink:NamedThing obsolete fusariosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016426 True owl:Class MONDO:0100136 biolink:NamedThing obsolete Fanconia anemia complementation group M OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene. tmpak2llvmy_mondo_relaxed.owl FANCM Fanconi anemia|Fanconi anemia caused by mutation in FANCM http://purl.obolibrary.org/obo/MONDO_0019391 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/1636 owl:Class MONDO:0001140 biolink:NamedThing obsolete Edwards syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018071 True owl:Class MONDO:0006472 biolink:NamedThing obsolete tracheal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003184 True owl:Class MONDO:0000394 biolink:NamedThing obsolete alcohol-related neurodevelopmental disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0016011 True owl:Class dc:contributor biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006017 biolink:NamedThing obsolete western equine encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019380 True owl:Class MONDO:0016716 biolink:NamedThing obsolete medulloepithelioma of the central nervous system tmpak2llvmy_mondo_relaxed.owl MONDO:0003144 True owl:Class MONDO:0006289 biolink:NamedThing obsolete malignant epitheloid mesothelioma tmpak2llvmy_mondo_relaxed.owl EFO:1000351 True owl:Class MONDO:0002964 biolink:NamedThing obsolete non-Langerhans-cell histiocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015531 True owl:Class MONDO:0000029 biolink:NamedThing obsolete corticosterone methyloxidase deficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003814 biolink:NamedThing obsolete gastric diffuse adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005017 True owl:Class MONDO:0000713 biolink:NamedThing obsolete Balo concentric sclerosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016430 True owl:Class MONDO:0003798 biolink:NamedThing obsolete epithelioid sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017387 True owl:Class MONDO:0019425 biolink:NamedThing obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0010574 True https://github.com/monarch-initiative/mondo/issues/2843 owl:Class MONDO:0000121 biolink:NamedThing obsolete emphysema tmpak2llvmy_mondo_relaxed.owl MONDO:0005024 True owl:Class MONDO:0002819 biolink:NamedThing obsolete Loeffler endocarditis tmpak2llvmy_mondo_relaxed.owl MONDO:0019159 True owl:Class MONDO:0020006 biolink:NamedThing obsolete rare hematologic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005570 True owl:Class MONDO:0006425 biolink:NamedThing obsolete spinal chordoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002894 True owl:Class MONDO:0010666 biolink:NamedThing obsolete Miles-Carpenter syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010758 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1696 owl:Class MONDO:0006083 biolink:NamedThing obsolete anaplastic large cell lymphoma, ALK-negative tmpak2llvmy_mondo_relaxed.owl MONDO:0017603 True owl:Class MONDO:0005241 biolink:NamedThing obsolete adrenocortical carcinoma tmpak2llvmy_mondo_relaxed.owl obsolete adrenocortical carcinoma (disease) obsolete adrenocortical carcinoma (disease) MONDO:0006639 True owl:Class MONDO:0000085 biolink:NamedThing obsolete pituitary hormone deficiency, combined tmpak2llvmy_mondo_relaxed.owl OMIMPS:613038 True owl:Class MONDO:0016694 biolink:NamedThing obsolete Pituicytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006372 True owl:Class MONDO:0010249 biolink:NamedThing obsolete X-linked B cell surface antigen, mouse, homolog-like 1 tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0018179 biolink:NamedThing obsolete bacterial toxic-shock syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0001881 True owl:Class MONDO:0000885 biolink:NamedThing obsolete cloacal exstrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0009774 True owl:Class urn:swrl#d biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0007563 biolink:NamedThing obsolete epistaxis, hereditary tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000324 biolink:NamedThing obsolete familial partial lipodystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0020088 True owl:Class MONDO:0000269 biolink:NamedThing obsolete inhalation anthrax tmpak2llvmy_mondo_relaxed.owl MONDO:0016595 True owl:Class MONDO:0004793 biolink:NamedThing obsolete uterine corpus cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006003 True owl:Class MONDO:0006473 biolink:NamedThing obsolete tracheal squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0001419 True owl:Class MONDO:0000357 biolink:NamedThing obsolete West syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018097 True owl:Class MONDO:0000106 biolink:NamedThing obsolete apnea tmpak2llvmy_mondo_relaxed.owl obsolete apnea (disease)|apnea obsolete apnea (disease) True owl:Class MONDO:0023031 biolink:NamedThing obsolete dysostosis acral with facial and genital abnormalities tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0024455 True https://github.com/monarch-initiative/mondo/issues/3711 owl:Class MONDO:0000185 biolink:NamedThing obsolete polyposis syndrome, hereditary mixed tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0020329 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-rich type tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0004604 True https://github.com/monarch-initiative/mondo/issues/3001 owl:Class MONDO:0001124 biolink:NamedThing obsolete filariasis tmpak2llvmy_mondo_relaxed.owl MONDO:0016075 True owl:Class MONDO:0012647 biolink:NamedThing obsolete generalized epilepsy with febrile seizures plus, type 3 tmpak2llvmy_mondo_relaxed.owl MONDO:0011891 True owl:Class MONDO:0001814 biolink:NamedThing obsolete patent ductus arteriosus tmpak2llvmy_mondo_relaxed.owl MONDO:0011827 True owl:Class MONDO:0000165 biolink:NamedThing obsolete ectodermal dysplasia-syndactyly syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0013311 True owl:Class GO:0044455 biolink:NamedThing obsolete mitochondrial membrane part OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpak2llvmy_mondo_relaxed.owl GO:0031966 True owl:Class MONDO:0011859 biolink:NamedThing obsolete distal myopathy with early respiratory muscle involvement tmpak2llvmy_mondo_relaxed.owl MONDO:0011362 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2208 owl:Class MONDO:0018568 biolink:NamedThing obsolete COG2-CDG tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0054559 True https://github.com/monarch-initiative/mondo/issues/2923 owl:Class MONDO:0016813 biolink:NamedThing obsolete microsporidiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005846 True owl:Class GO:0051198 biolink:NamedThing obsolete negative regulation of coenzyme metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpak2llvmy_mondo_relaxed.owl negative regulation of coenzyme and prosthetic group metabolism|negative regulation of coenzyme metabolism|down regulation of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolic process|inhibition of coenzyme metabolic process|downregulation of coenzyme metabolic process|down-regulation of coenzyme metabolic process True owl:Class GO:0044459 biolink:NamedThing obsolete plasma membrane part OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpak2llvmy_mondo_relaxed.owl GO:0005886 True owl:Class MONDO:0006204 biolink:NamedThing obsolete extramammary Paget disease tmpak2llvmy_mondo_relaxed.owl MONDO:0008177 True owl:Class MONDO:0004906 biolink:NamedThing obsolete hereditary fructose intolerance syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009249 True owl:Class dc:rights biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000017 biolink:NamedThing obsolete deafness, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MONDO:0011791 True owl:Class MONDO:0005415 biolink:NamedThing obsolete acute lung injury tmpak2llvmy_mondo_relaxed.owl MONDO:0015796 True owl:Class MONDO:0000126 biolink:NamedThing obsolete gastric cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0001056 True owl:Class MONDO:0023141 biolink:NamedThing obsolete antihypertensive drugs antenatal exposure syndrome tmpak2llvmy_mondo_relaxed.owl fetal antihypertensive drugs syndrome|antihypertensive drugs antenatal exposure https://github.com/monarch-initiative/mondo/issues/141 GARD:0000733 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0015155 biolink:NamedThing obsolete spotted fever rickettsiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0001195 True owl:Class MONDO:0008539 biolink:NamedThing obsolete distal arthrogryposis type 10 tmpak2llvmy_mondo_relaxed.owl MONDO:0016675 True owl:Class MONDO:0006127 biolink:NamedThing obsolete cecum villous adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000525 True owl:Class MONDO:0002504 biolink:NamedThing obsolete grade III astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016684 True owl:Class MONDO:0001489 biolink:NamedThing obsolete urticaria pigmentosa tmpak2llvmy_mondo_relaxed.owl MONDO:0019316 True owl:Class MONDO:0004388 biolink:NamedThing obsolete testicular spermatocytic seminoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020513 True owl:Class MONDO:0006440 biolink:NamedThing obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020332 This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0001796 biolink:NamedThing obsolete epidermodysplasia verruciformis tmpak2llvmy_mondo_relaxed.owl MONDO:0009176 True owl:Class MONDO:0001826 biolink:NamedThing obsolete hypobetalipoproteinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0017774 True owl:Class MONDO:0000326 biolink:NamedThing obsolete lissencephaly tmpak2llvmy_mondo_relaxed.owl MONDO:0018838 True owl:Class MONDO:0007455 biolink:NamedThing obsolete diabetes mellitus, noninsulin-dependent tmpak2llvmy_mondo_relaxed.owl MONDO:0005148 Duplicate terms. True https://github.com/monarch-initiative/mondo/issues/2377 owl:Class MONDO:0000887 biolink:NamedThing obsolete hepatic veno-occlusive disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019514 True owl:Class MONDO:0002560 biolink:NamedThing obsolete junctional epidermolysis bullosa tmpak2llvmy_mondo_relaxed.owl MONDO:0017612 True owl:Class MONDO:0002080 biolink:NamedThing obsolete congenital ichthyosiform erythroderma tmpak2llvmy_mondo_relaxed.owl obsolete congenital ichthyosiform erythroderma (disease) obsolete congenital ichthyosiform erythroderma (disease) MONDO:0019306 True owl:Class urn:swrl#in biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000216 biolink:NamedThing obsolete congenital bilateral aplasia of vas deferens tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0004061 biolink:NamedThing obsolete mitochondrial myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0009637 True owl:Class MONDO:0013346 biolink:NamedThing obsolete brain calcification, Rajab type tmpak2llvmy_mondo_relaxed.owl MONDO:0100215 This is a prototype term for an OMIMPS, obsoleted this term and recreated the class that is a child of th OMIMPS. True owl:Class MONDO:0018584 biolink:NamedThing obsolete placental insufficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0005919 True owl:Class MONDO:0002091 biolink:NamedThing obsolete cryptosporidiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015474 True owl:Class MONDO:0003309 biolink:NamedThing obsolete pleural cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006294 True owl:Class MONDO:0005205 biolink:NamedThing obsolete systemic lupus erythematosus tmpak2llvmy_mondo_relaxed.owl MONDO:0007915 True owl:Class MONDO:0000058 biolink:NamedThing obsolete melanoma, cutaneous malignant tmpak2llvmy_mondo_relaxed.owl MONDO:0024462 True owl:Class MONDO:0000040 biolink:NamedThing obsolete hyperphenylalaninemia, BH4-deficient tmpak2llvmy_mondo_relaxed.owl MONDO:0016543 True owl:Class MONDO:0019459 biolink:NamedThing obsolete myeloid sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006861 True owl:Class MONDO:0011665 biolink:NamedThing obsolete Lennox-Gastaut syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016532 True owl:Class MONDO:0000187 biolink:NamedThing obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010004 True owl:Class MONDO:0000876 biolink:NamedThing obsolete herpes simplex virus keratitis tmpak2llvmy_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0004476 biolink:NamedThing obsolete thymus sarcomatoid carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpak2llvmy_mondo_relaxed.owl MONDO:0006452 True owl:Class MONDO:0000932 biolink:NamedThing obsolete skin amelanotic melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005208 True owl:Class MONDO:0019510 biolink:NamedThing obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020726 This was a duplicate with autosomal dominant medullary cystic kidney disease without hyperuricemia. True https://github.com/monarch-initiative/mondo/issues/1878 owl:Class MONDO:0006194 biolink:NamedThing obsolete endometrial mucinous adenocarcinoma A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpak2llvmy_mondo_relaxed.owl MONDO:0002747 True owl:Class MONDO:0010234 biolink:NamedThing obsolete body length, mouse, human homolog tmpak2llvmy_mondo_relaxed.owl body length, mouse, HUMAN homolog True owl:Class MONDO:0006242 biolink:NamedThing obsolete hepatoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0016992 biolink:NamedThing obsolete peeling skin syndrome type B tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0024548 True https://github.com/monarch-initiative/mondo/issues/2705 owl:Class MONDO:0001587 biolink:NamedThing obsolete mucopolysaccharidosis type 4 tmpak2llvmy_mondo_relaxed.owl MONDO:0018938 True owl:Class MONDO:0015258 biolink:NamedThing obsolete botulism tmpak2llvmy_mondo_relaxed.owl MONDO:0005498 True owl:Class MONDO:0002709 biolink:NamedThing obsolete Kallmann syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018800 True owl:Class MONDO:0000002 biolink:NamedThing obsolete 46,XX sex reversal tmpak2llvmy_mondo_relaxed.owl MONDO:0009299 True owl:Class MONDO:0020171 biolink:NamedThing obsolete palpebral tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0002235 True owl:Class MONDO:0006439 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpak2llvmy_mondo_relaxed.owl MONDO:0019392 True owl:Class MONDO:0003526 biolink:NamedThing obsolete lung giant cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006275 True owl:Class MONDO:0003114 biolink:NamedThing obsolete bone giant cell sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006287 True owl:Class MONDO:0006020 biolink:NamedThing obsolete Zollinger-Ellison syndrome tmpak2llvmy_mondo_relaxed.owl obsolete Zollinger-Ellison syndrome (disease) obsolete Zollinger-Ellison syndrome (disease) MONDO:0019610 True owl:Class MONDO:0015633 biolink:NamedThing obsolete Bazex syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0010535 True https://github.com/monarch-initiative/mondo/issues/3693 owl:Class GO:0051196 biolink:NamedThing obsolete regulation of coenzyme metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpak2llvmy_mondo_relaxed.owl regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme metabolism|regulation of coenzyme and prosthetic group metabolism True owl:Class MONDO:0016324 biolink:NamedThing obsolete hypertrophic cardiomyopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0005045 True owl:Class MONDO:0005622 biolink:NamedThing obsolete vasculitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018882 True owl:Class MONDO:0001573 biolink:NamedThing obsolete Friedreich ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0009245 True owl:Class MONDO:0019184 biolink:NamedThing obsolete ankylostomiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005645 True owl:Class MONDO:0016288 biolink:NamedThing obsolete glassy cell carcinoma of the cervix uteri tmpak2llvmy_mondo_relaxed.owl MONDO:0004542 True owl:Class MONDO:0000730 biolink:NamedThing obsolete pontocerebellar hypoplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0020135 True owl:Class OIO:consider biolink:NamedThing consider tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000026 biolink:NamedThing obsolete Fanconi renotubular syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0001083 True owl:Class MONDO:0000146 biolink:NamedThing obsolete progeroid syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015333 True owl:Class MONDO:0006063 biolink:NamedThing obsolete carbohydrate metabolic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0019214 True owl:Class MONDO:0016415 biolink:NamedThing obsolete immunodeficiency-centromeric instability-facial anomalies syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000133 True owl:Class MONDO:0010346 biolink:NamedThing obsolete MRX52 tmpak2llvmy_mondo_relaxed.owl MONDO:0010317 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/2329 owl:Class MONDO:0002288 biolink:NamedThing obsolete ovarian cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0016245 True owl:Class MONDO:0003919 biolink:NamedThing obsolete inherited metabolic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0019052 True owl:Class MONDO:0005329 biolink:NamedThing obsolete vascular sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0000021 biolink:NamedThing obsolete short-rib thoracic dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0018770 True owl:Class OBO:mondo#may_be_merged_into biolink:NamedThing may_be_merged_into tmpak2llvmy_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0006016 biolink:NamedThing obsolete West Nile encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019376 True owl:Class MONDO:0045028 biolink:NamedThing obsolete radiation or chemically induced disorder A disease or disorder that is induced by either chemical or radiation exposure. tmpak2llvmy_mondo_relaxed.owl out of scope True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MONDO:0004825 biolink:NamedThing obsolete encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019956 True owl:Class IAO:0000424 biolink:NamedThing expand expression to A macro expansion tag applied to an object property (or possibly a data property) which can be used by a macro-expansion engine to generate more complex expressions from simpler ones tmpak2llvmy_mondo_relaxed.owl expand expression to ObjectProperty: RO_0002104 Label: has plasma membrane part Annotations: IAO_0000424 "http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.org/obo/owl/GO#GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty MONDO:0020719 biolink:NamedThing obsolete susceptibility to Hirschsprung disease tmpak2llvmy_mondo_relaxed.owl HSCR MONDO:0018309 True owl:Class MONDO:0002097 biolink:NamedThing obsolete ocular melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006325 True owl:Class MONDO:0000246 biolink:NamedThing obsolete la Crosse encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019378 True owl:Class IAO:0000410 biolink:NamedThing universal tmpak2llvmy_mondo_relaxed.owl A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf|A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents.|Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents. universal Alan Ruttenberg|Alan Ruttenberg owl:NamedIndividual MONDO:0023303 biolink:NamedThing obsolete Hamanishi-Ueba-Tsuji syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008809 True owl:Class GO:1903759 biolink:NamedThing obsolete signal transduction involved in regulation of aerobic respiration OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration. tmpak2llvmy_mondo_relaxed.owl signaling pathway involved in regulation of aerobic respiration|signaling cascade involved in regulation of aerobic respiration|signalling pathway involved in regulation of aerobic respiration|signalling cascade involved in regulation of aerobic respiration True owl:Class MONDO:0004740 biolink:NamedThing obsolete hyperlysinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0009388 True owl:Class MONDO:0000564 biolink:NamedThing obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009133 True owl:Class MONDO:0005370 biolink:NamedThing obsolete interstitial lung disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015925 True owl:Class IAO:0000427 biolink:NamedThing antisymmetric property Use boolean value xsd:true to indicate that the property is an antisymmetric property tmpak2llvmy_mondo_relaxed.owl antisymmetric property part_of antisymmetric property xsd:true Alan Ruttenberg owl:AnnotationProperty MONDO:0024486 biolink:NamedThing obsolete familial chronic mucocutaneous candidiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0015279 True owl:Class MONDO:0002208 biolink:NamedThing obsolete vulva adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0024336 True owl:Class MONDO:0006627 biolink:NamedThing obsolete microscopic polyangiitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019124 True owl:Class MONDO:0006628 biolink:NamedThing obsolete Sezary disease tmpak2llvmy_mondo_relaxed.owl obsolete Sezary's disease MONDO:0017844 True owl:Class MONDO:0016732 biolink:NamedThing obsolete dysembryoplastic neuroepithelial tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0005505 True owl:Class MONDO:0004623 biolink:NamedThing obsolete prostate carcinoma in situ tmpak2llvmy_mondo_relaxed.owl MONDO:0006234 True owl:Class MONDO:0002932 biolink:NamedThing obsolete conjunctival disease tmpak2llvmy_mondo_relaxed.owl MONDO:0006170 True owl:Class MONDO:0018704 biolink:NamedThing obsolete actinomycosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005631 True owl:Class MONDO:0007069 biolink:NamedThing obsolete Adie syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018690 True owl:Class MONDO:0000280 biolink:NamedThing obsolete Brazilian hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017877 True owl:Class MONDO:0004023 biolink:NamedThing obsolete hepatoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0017960 biolink:NamedThing obsolete CANDLE syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0007978 biolink:NamedThing obsolete malignant mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006292 True owl:Class GO:0120038 biolink:NamedThing obsolete plasma membrane bounded cell projection part OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon. tmpak2llvmy_mondo_relaxed.owl GO:0120025 True owl:Class GO:0051181 biolink:NamedThing obsolete cofactor transport OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein. tmpak2llvmy_mondo_relaxed.owl vitamin or cofactor transport True owl:Class GO:0055114 biolink:NamedThing obsolete oxidation-reduction process OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. tmpak2llvmy_mondo_relaxed.owl oxidation reduction|oxidoreductase process True owl:Class MONDO:0003267 biolink:NamedThing obsolete myxopapillary ependymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016699 True owl:Class MONDO:0005022 biolink:NamedThing obsolete ductal breast adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0000349 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0019011 True owl:Class MONDO:0000767 biolink:NamedThing obsolete nut midline carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0001348 biolink:NamedThing obsolete Lyme disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019632 True owl:Class MONDO:0005444 biolink:NamedThing obsolete leishmaniasis tmpak2llvmy_mondo_relaxed.owl MONDO:0011989 True owl:Class MONDO:0017854 biolink:NamedThing obsolete T-b+ severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0018934 biolink:NamedThing obsolete mucopolysaccharidosis type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0001586 True owl:Class MONDO:0002589 biolink:NamedThing obsolete thymoma type AB tmpak2llvmy_mondo_relaxed.owl MONDO:0016975 True owl:Class GO:0060850 biolink:NamedThing obsolete regulation of transcription involved in cell fate commitment OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate. tmpak2llvmy_mondo_relaxed.owl GO:0045165|GO:0006357 True owl:Class MONDO:0011947 biolink:NamedThing obsolete HNP1 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0024633 True https://github.com/monarch-initiative/mondo/issues/3600 owl:Class MONDO:0010624 biolink:NamedThing obsolete IFAP/BRESHECK syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0100213 Split this term and added OMIM phenotypic series as a parent. True owl:Class IAO:0010000 biolink:NamedThing has axiom label tmpak2llvmy_mondo_relaxed.owl Person:Alan Ruttenberg has axiom id A URI that is intended to be unique label for an axiom used for tracking change to the ontology. For an axiom expressed in different languages, each expression is given the same URI Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0018650 biolink:NamedThing obsolete hemochromatosis type 5 tmpak2llvmy_mondo_relaxed.owl MONDO:0014225 True owl:Class MONDO:0000124 biolink:NamedThing obsolete focal facial dermal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0018363 True owl:Class GO:1900403 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0002704 biolink:NamedThing obsolete appendix adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006087 True owl:Class IAO:0000597 biolink:NamedThing has ID range allocated to Relates a datatype that encodes a range of integers to the name of the person or organization who can use those ids constructed in that range to define new terms tmpak2llvmy_mondo_relaxed.owl has ID range allocated Datatype: idrange:1 Annotations: 'has ID range allocated to': "Chris Mungall" EquivalentTo: xsd:integer[> 2151 , <= 2300] Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0000112 biolink:NamedThing obsolete cardioencephalomyopathy, fatal infantile tmpak2llvmy_mondo_relaxed.owl MONDO:0015487 True owl:Class MONDO:0000555 biolink:NamedThing obsolete autosomal recessive hypophosphatemic rickets tmpak2llvmy_mondo_relaxed.owl MONDO:0017324 True owl:Class OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0010892 biolink:NamedThing obsolete mitochondrial myopathy and sideroblastic anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0000863 True owl:Class MONDO:0004908 biolink:NamedThing obsolete galactosemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018116 True owl:Class MONDO:0020319 biolink:NamedThing obsolete acute myeloblastic leukemia without maturation tmpak2llvmy_mondo_relaxed.owl MONDO:0005224 True owl:Class GO:0100020 biolink:NamedThing obsolete regulation of transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000350 biolink:NamedThing obsolete Charcot-Marie-Tooth disease intermediate type tmpak2llvmy_mondo_relaxed.owl MONDO:0018778 True owl:Class MONDO:0002539 biolink:NamedThing obsolete oligodendroglioma tmpak2llvmy_mondo_relaxed.owl MONDO:0016695 True owl:Class IAO:0000603 biolink:NamedThing is allocated id range Relates an ontology IRI to an (inclusive) range of IRIs in an OBO name space. The range is give as, e.g. "IAO_0020000-IAO_0020999" tmpak2llvmy_mondo_relaxed.owl Add as annotation triples in the granting ontology is allocated id range PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0021252 biolink:NamedThing obsolete lung hilum neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0003639 True owl:Class MONDO:0000016 biolink:NamedThing obsolete coronary heart disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005010 True owl:Class MONDO:0007026 biolink:NamedThing obsolete non-alcoholic fatty liver tmpak2llvmy_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0012189 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018274 Obsoleted in the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class MONDO:0005472 biolink:NamedThing obsolete congenital heart malformation tmpak2llvmy_mondo_relaxed.owl MONDO:0019512 True owl:Class MONDO:0003385 biolink:NamedThing obsolete cervical clear cell adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006135 True owl:Class MONDO:0000999 biolink:NamedThing obsolete pneumoconiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015926 True owl:Class MONDO:0002458 biolink:NamedThing obsolete acute pancreatitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006515 True owl:Class IAO:0000121 biolink:NamedThing organizational term term created to ease viewing/sort terms for development purpose, and will not be included in a release|Term created to ease viewing/sort terms for development purpose, and will not be included in a release tmpak2llvmy_mondo_relaxed.owl organizational term IAO:0000078 MONDO:0001865 biolink:NamedThing obsolete autoimmune polyendocrinopathy syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017278 True owl:Class MONDO:0018693 biolink:NamedThing obsolete kuru tmpak2llvmy_mondo_relaxed.owl MONDO:0006825 True owl:Class MONDO:0018519 biolink:NamedThing obsolete squamous cell carcinoma of the anal canal tmpak2llvmy_mondo_relaxed.owl MONDO:0004132 True owl:Class MONDO:0003883 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016728 True owl:Class MONDO:0017982 biolink:NamedThing obsolete humeroradial synostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0009356 True owl:Class MONDO:0006434 biolink:NamedThing obsolete Subependymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0007667 True owl:Class MONDO:0003547 biolink:NamedThing obsolete histiocytic and dendritic cell cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006247 True owl:Class MONDO:0004395 biolink:NamedThing obsolete mixed oligodendroglioma-astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016702 True owl:Class MONDO:0016597 biolink:NamedThing obsolete generalized pustular psoriasis tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0018272 biolink:NamedThing obsolete small cell carcinoma of the ovary A small cell carcinoma that involves the ovary. tmpak2llvmy_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0006448 biolink:NamedThing obsolete testicular teratoma (disease) tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018193 True https://github.com/monarch-initiative/mondo/issues/3286 owl:Class MONDO:0044716 biolink:NamedThing obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0030912 True owl:Class MONDO:0002148 biolink:NamedThing obsolete sphingolipidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019255 True owl:Class MONDO:0006453 biolink:NamedThing obsolete thymic small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpak2llvmy_mondo_relaxed.owl MONDO:0004122 True owl:Class MONDO:0015456 biolink:NamedThing obsolete whooping cough tmpak2llvmy_mondo_relaxed.owl MONDO:0005077 True owl:Class MONDO:0002215 biolink:NamedThing obsolete atypical teratoid rhabdoid tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0020560 True owl:Class MONDO:0005378 biolink:NamedThing obsolete neuromyelitis optica tmpak2llvmy_mondo_relaxed.owl MONDO:0019100 True owl:Class MONDO:0009510 biolink:NamedThing obsolete Laron syndrome with immunodeficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0100211 Split this term and added OMIM phenotypic series as a parent. True owl:Class MONDO:0018140 biolink:NamedThing obsolete burning mouth syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0006687 True owl:Class MONDO:0007786 biolink:NamedThing obsolete hypertrichosis lanuginosa congenita tmpak2llvmy_mondo_relaxed.owl MONDO:0016381 True owl:Class MONDO:0007262 biolink:NamedThing obsolete carcinoid syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0006689 True owl:Class MONDO:0000864 biolink:NamedThing obsolete congenital myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0019952 True owl:Class MONDO:0016585 biolink:NamedThing obsolete mansonelliasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005838 True owl:Class MONDO:0000862 biolink:NamedThing obsolete reducing body myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0019948 True owl:Class MONDO:0005457 biolink:NamedThing obsolete acute stress reaction tmpak2llvmy_mondo_relaxed.owl MONDO:0003763 True owl:Class MONDO:0005529 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblG tmpak2llvmy_mondo_relaxed.owl MONDO:0009609 True owl:Class OIO:hasExactSynonym biolink:NamedThing has_exact_synonym tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004246 biolink:NamedThing obsolete lymphatic system disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005833 True owl:Class MONDO:0000537 biolink:NamedThing obsolete gastrointestinal carcinoma tmpak2llvmy_mondo_relaxed.owl obsolete gastrointestinal carcinoma (disease) obsolete gastrointestinal carcinoma (disease) MONDO:0006181 True owl:Class MONDO:0001550 biolink:NamedThing obsolete Duane retraction syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007473 True owl:Class MONDO:0001981 biolink:NamedThing obsolete cholesterol ester storage disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019149 True owl:Class MONDO:0010593 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0015942 True owl:Class MONDO:0001107 biolink:NamedThing obsolete cerebral lipidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0020143 True owl:Class MONDO:0000804 biolink:NamedThing obsolete white shrimp allergy A allergy involving a Litopenaeus schmitti. tmpak2llvmy_mondo_relaxed.owl Litopenaeus schmitti caused allergic disease|Litopenaeus vannamei allergy|allergy of Litopenaeus schmitti|Litopenaeus schmitti allergic disease MONDO:outOfScope DOID:0060529 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0004921 biolink:NamedThing obsolete Omsk hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017882 True owl:Class GO:0072367 biolink:NamedThing obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0005268 biolink:NamedThing obsolete Hashimoto's thyroiditis tmpak2llvmy_mondo_relaxed.owl MONDO:0007699 True owl:Class MONDO:0035363 biolink:NamedThing obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0060759 True https://github.com/monarch-initiative/mondo/issues/3541 owl:Class MONDO:0020079 biolink:NamedThing obsolete plasma cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0004959 True owl:Class MONDO:0020239 biolink:NamedThing obsolete color-vision disease tmpak2llvmy_mondo_relaxed.owl MONDO:0001703 True owl:Class MONDO:0008279 biolink:NamedThing obsolete familial adenomatous polyposis type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0008117 biolink:NamedThing obsolete oculopharyngodistal myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0020793 obsoleted as it was ambiguous as to whether it references the generic grouping or type 1 True owl:Class MONDO:0000186 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia with joint laxity tmpak2llvmy_mondo_relaxed.owl MONDO:0019675 True owl:Class MONDO:0000454 biolink:NamedThing obsolete multiple synostoses syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017923 True owl:Class MONDO:0019030 biolink:NamedThing obsolete Acanthamoeba keratitis tmpak2llvmy_mondo_relaxed.owl MONDO:0005629 True owl:Class MONDO:0000844 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0016761 Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia True owl:Class MONDO:0008033 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. tmpak2llvmy_mondo_relaxed.owl MONDO:0021569 True owl:Class MONDO:0002777 biolink:NamedThing obsolete pleural empyema tmpak2llvmy_mondo_relaxed.owl MONDO:0018667 True owl:Class MONDO:0010513 biolink:NamedThing obsolete intellectual disability, X-linked, syndromic, Borck type tmpak2llvmy_mondo_relaxed.owl MONDO:0010258 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1693 owl:Class MONDO:0033550 biolink:NamedThing obsolete high density lipoprotein cholesterol level quantitative trait locus 7 tmpak2llvmy_mondo_relaxed.owl HDLCQ7|HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 OMIM:618979 True owl:Class MONDO:0004818 biolink:NamedThing obsolete benign neurilemmoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0000731 biolink:NamedThing obsolete peeling skin syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019347 True owl:Class CL:0000181 biolink:NamedThing obsolete metabolising cell A cell whose primary function is intermediary metabolism. tmpak2llvmy_mondo_relaxed.owl Removing this grouping class, because the groupings are incomplete and too hard to maintain. True cell https://github.com/obophenotype/cell-ontology/issues/720 owl:Class MONDO:0006494 biolink:NamedThing obsolete thyroid disease tmpak2llvmy_mondo_relaxed.owl MONDO:0003240 True owl:Class MONDO:0000189 biolink:NamedThing obsolete Schindler disease tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0004362 biolink:NamedThing obsolete placenta disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005917 True owl:Class GO:0072365 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0010357 biolink:NamedThing obsolete MRX78 tmpak2llvmy_mondo_relaxed.owl MONDO:0010656 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1691 owl:Class MONDO:0100142 biolink:NamedThing obsolete severe COVID-19 infection A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. tmpak2llvmy_mondo_relaxed.owl Not a disease http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0000829 biolink:NamedThing obsolete early-onset Parkinson disease tmpak2llvmy_mondo_relaxed.owl MONDO:0017279 True owl:Class GO:0072366 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0017796 biolink:NamedThing obsolete ameloblastic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006079 True owl:Class MONDO:0005513 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblE tmpak2llvmy_mondo_relaxed.owl MONDO:0009354 True owl:Class MONDO:0022463 biolink:NamedThing obsolete anophthalmia megalocornea cardiopathy skeletal anomalies tmpak2llvmy_mondo_relaxed.owl MONDO:0015230 True owl:Class MONDO:0004515 biolink:NamedThing obsolete olfactory neural tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0002722 True owl:Class MONDO:0001070 biolink:NamedThing obsolete adrenoleukodystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0018544 True owl:Class MONDO:0006114 biolink:NamedThing obsolete bladder squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002760 True owl:Class MONDO:0015423 biolink:NamedThing obsolete anaplastic thyroid carcinoma Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. tmpak2llvmy_mondo_relaxed.owl MONDO:0006468 True owl:Class MONDO:0005234 biolink:NamedThing obsolete polymyositis tmpak2llvmy_mondo_relaxed.owl MONDO:0019127 True owl:Class MONDO:0003498 biolink:NamedThing obsolete gallbladder squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006220 True owl:Class MONDO:0019057 biolink:NamedThing obsolete rare constitutional aplastic anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0001713 True owl:Class MONDO:0006623 biolink:NamedThing obsolete autoimmune pancreatitis type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0017227 True owl:Class MONDO:0000274 biolink:NamedThing obsolete tick-borne encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0017572 True owl:Class MONDO:0019089 biolink:NamedThing obsolete adult acute respiratory distress syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0006502 True owl:Class GO:0072369 biolink:NamedThing obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0010202 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010518 True owl:Class MONDO:0011750 biolink:NamedThing obsolete insulinoma tumor suppressor gene locus tmpak2llvmy_mondo_relaxed.owl insulinoma tumor suppressor gene locus OMIM:606960 True owl:Class MONDO:0006331 biolink:NamedThing obsolete ovarian carcinosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003792 True owl:Class MONDO:0005840 biolink:NamedThing obsolete mast-cell leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020334 True owl:Class MONDO:0016519 biolink:NamedThing obsolete keratosis follicularis spinulosa decalvans tmpak2llvmy_mondo_relaxed.owl MONDO:0000136 True owl:Class MONDO:0000854 biolink:NamedThing obsolete Stickler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019354 True owl:Class GO:0100024 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0019968 biolink:NamedThing obsolete Osgood-Schlatter disease tmpak2llvmy_mondo_relaxed.owl MONDO:0004241 True owl:Class MONDO:0006959 biolink:NamedThing obsolete Schnitzler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018304 True owl:Class MONDO:0005726 biolink:NamedThing obsolete cysticercosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015484 True owl:Class GO:1900392 biolink:NamedThing obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0017293 biolink:NamedThing obsolete small cell carcinoma of the bladder tmpak2llvmy_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0001248 biolink:NamedThing obsolete rabies tmpak2llvmy_mondo_relaxed.owl MONDO:0019173 True owl:Class MONDO:0015815 biolink:NamedThing obsolete primary cutaneous diffuse large B-cell lymphoma, leg type tmpak2llvmy_mondo_relaxed.owl MONDO:0006383 True owl:Class MONDO:0033939 biolink:NamedThing obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0060564 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0013399 biolink:NamedThing obsolete cardiomyopathy, dilated, 1T tmpak2llvmy_mondo_relaxed.owl MONDO:0000911 True owl:Class MONDO:0002392 biolink:NamedThing obsolete lymphangiosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006282 True owl:Class MONDO:0001840 biolink:NamedThing obsolete schistosomiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0015254 True owl:Class MONDO:0012281 biolink:NamedThing obsolete sarcoidosis, early-onset tmpak2llvmy_mondo_relaxed.owl MONDO:0008523 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1703 owl:Class MONDO:0020566 biolink:NamedThing obsolete Klatskin tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0006269 biolink:NamedThing obsolete liver inflammatory myofibroblastic tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0004726 True owl:Class MONDO:0015058 biolink:NamedThing obsolete Waterhouse-Friderichsen syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0006015 True owl:Class MONDO:0020609 biolink:NamedThing obsolete blood group, colton system tmpak2llvmy_mondo_relaxed.owl BLOOD GROUP, COLTON SYSTEM|CO|Colton-Null Phenotype|Colton Blood Group System OMIM:110450 True owl:Class MONDO:0003580 biolink:NamedThing obsolete embryonal testis carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006446 True owl:Class MONDO:0021150 biolink:NamedThing obsolete genetic characteristic tmpak2llvmy_mondo_relaxed.owl MONDO:0021152 True owl:Class GO:1900389 biolink:NamedThing obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. tmpak2llvmy_mondo_relaxed.owl regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003201 biolink:NamedThing obsolete esophagus adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005028 True owl:Class OIO:hasSynonym biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000576 biolink:NamedThing obsolete CD3delta deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0014280 True owl:Class MONDO:0000080 biolink:NamedThing obsolete Oto-palato-digital syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010704 See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.". True owl:Class MONDO:0003338 biolink:NamedThing obsolete von Economo disease tmpak2llvmy_mondo_relaxed.owl obsolete von Economo's disease MONDO:0019384 True owl:Class MONDO:0010345 biolink:NamedThing obsolete ocular albinism tmpak2llvmy_mondo_relaxed.owl MONDO:0017304 True owl:Class MONDO:0000132 biolink:NamedThing obsolete hypocalcemia tmpak2llvmy_mondo_relaxed.owl obsolete hypocalcemia (disease) obsolete hypocalcemia (disease) True owl:Class MONDO:0004912 biolink:NamedThing obsolete muscular dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0020121 True owl:Class MONDO:0000695 biolink:NamedThing obsolete histidinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0009345 True owl:Class MONDO:0002445 biolink:NamedThing obsolete hemoglobin c disease tmpak2llvmy_mondo_relaxed.owl MONDO:0016242 True owl:Class MONDO:0000794 biolink:NamedThing obsolete beta-lactam allergy A allergy involving a beta-lactam. tmpak2llvmy_mondo_relaxed.owl allergy of beta-lactam|beta-lactam allergic disease MONDO:outOfScope DOID:0060519 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0010724 biolink:NamedThing obsolete RP6 tmpak2llvmy_mondo_relaxed.owl MONDO:0000910 True owl:Class MONDO:0007714 biolink:NamedThing obsolete migraine, familial hemiplegic, 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0000700|MONDO:0020756 True owl:Class OIO:id biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006443 biolink:NamedThing obsolete tenosynovial giant cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0002522 True owl:Class MONDO:0000897 biolink:NamedThing obsolete chronic myelomonocytic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020311 True owl:Class MONDO:0019477 biolink:NamedThing obsolete angioimmunoblastic T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004977 True owl:Class MONDO:0006508 biolink:NamedThing obsolete infantile epileptic encephalopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0016021 True owl:Class MONDO:0001675 biolink:NamedThing obsolete porphyria tmpak2llvmy_mondo_relaxed.owl MONDO:0019142 True owl:Class MONDO:0000504 biolink:NamedThing obsolete follicular lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018906 True owl:Class MONDO:0003016 biolink:NamedThing obsolete sarcomatoid mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006407 True owl:Class MONDO:0006341 biolink:NamedThing obsolete ovarian small cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0011324 biolink:NamedThing obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss tmpak2llvmy_mondo_relaxed.owl MONDO:0008885 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1699 owl:Class MONDO:0002346 biolink:NamedThing obsolete malignant histiocytic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0004612 True owl:Class MONDO:0006371 biolink:NamedThing obsolete pineocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016723 True owl:Class MONDO:0000199 biolink:NamedThing obsolete familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0000063 biolink:NamedThing obsolete molybdenum cofactor deficiency tmpak2llvmy_mondo_relaxed.owl obsolete molybdenum cofactor deficiency (disease)|molybdenum cofactor deficiency obsolete molybdenum cofactor deficiency (disease) MONDO:0020480 HP:0003570 True owl:Class MONDO:0002823 biolink:NamedThing obsolete thyroid gland medullary carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0015277 True owl:Class MONDO:0006437 biolink:NamedThing obsolete superficial fibromatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016037 True owl:Class MONDO:0003456 biolink:NamedThing obsolete bile duct mucinous cystic neoplasm tmpak2llvmy_mondo_relaxed.owl See Bile Duct Cystadenoma DOID:5469|UMLS:C1334253|NCIT:C37215 True owl:Class MONDO:0003324 biolink:NamedThing obsolete stromal predominant kidney Wilms' tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006432 True owl:Class MONDO:0006338 biolink:NamedThing obsolete ovarian germ cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0011366 True owl:Class MONDO:0005732 biolink:NamedThing obsolete diphyllobothriasis tmpak2llvmy_mondo_relaxed.owl MONDO:0015260 True owl:Class MONDO:0006695 biolink:NamedThing obsolete cervical rib syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007303 True owl:Class GO:0044463 biolink:NamedThing obsolete cell projection part OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpak2llvmy_mondo_relaxed.owl GO:0042995 True owl:Class MONDO:0000041 biolink:NamedThing obsolete hyperphosphatasia with mental retardation syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016596 True owl:Class MONDO:0010272 biolink:NamedThing obsolete syndromic X-linked intellectual disability type 10 tmpak2llvmy_mondo_relaxed.owl MONDO:0010327 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1690 owl:Class MONDO:0003854 biolink:NamedThing obsolete tibial adamantinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006469 True owl:Class MONDO:0009325 biolink:NamedThing obsolete deafness-enamel hypoplasia-nail defects syndrome tmpak2llvmy_mondo_relaxed.owl duplicate MONDO:0100229 True https://github.com/monarch-initiative/mondo/issues/2857 owl:Class MONDO:0006177 biolink:NamedThing obsolete cutaneous undifferentiated pleomorphic sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002141 True owl:Class http://www.w3.org/2004/02/skos/core#broadMatch biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018399 biolink:NamedThing obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism tmpak2llvmy_mondo_relaxed.owl MONDO:0018398 True https://github.com/monarch-initiative/mondo/issues/414|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0003871 biolink:NamedThing obsolete metanephric adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006301 True owl:Class MONDO:0000279 biolink:NamedThing obsolete Venezuelan hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017876 True owl:Class MONDO:0002094 biolink:NamedThing obsolete conjunctival squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006173 True owl:Class MONDO:0003099 biolink:NamedThing obsolete endophthalmitis tmpak2llvmy_mondo_relaxed.owl MONDO:0016047 True owl:Class MONDO:0010059 biolink:NamedThing obsolete spinal muscular atrophy, type I, with congenital bone fractures tmpak2llvmy_mondo_relaxed.owl MONDO:0014806 OMIM merged these records. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class IAO:0000601 biolink:NamedThing has associated axiom(nl) tmpak2llvmy_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(nl) An axiom associated with a term expressed using natural language Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0002157 biolink:NamedThing obsolete fallopian tube carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006206 True owl:Class GO:0044456 biolink:NamedThing obsolete synapse part OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpak2llvmy_mondo_relaxed.owl synaptic component GO:0045202 True owl:Class MONDO:0002985 biolink:NamedThing obsolete pustulosis of palm and sole tmpak2llvmy_mondo_relaxed.owl MONDO:0015597 True owl:Class MONDO:0003203 biolink:NamedThing obsolete pituitary carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017582 True owl:Class MONDO:0000835 biolink:NamedThing obsolete ischemic bone disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005380 True owl:Class MONDO:0002296 biolink:NamedThing obsolete glomus tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0018327 True owl:Class MONDO:0002600 biolink:NamedThing obsolete mixed germ cell cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0015864 True owl:Class MONDO:0001432 biolink:NamedThing obsolete sodoku disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020532 True owl:Class MONDO:0004097 biolink:NamedThing obsolete lipid-rich breast carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0021090 True owl:Class MONDO:0024351 biolink:NamedThing obsolete familial pityriasis rubra pilaris tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0008251 True https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0004735 biolink:NamedThing obsolete Alagille syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0100143 biolink:NamedThing obsolete critical COVID-19 infection A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. tmpak2llvmy_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0018366 biolink:NamedThing obsolete mucinous adenocarcinoma of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0005601 True owl:Class MONDO:0004610 biolink:NamedThing obsolete multiple carboxylase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0015454 True owl:Class MONDO:0020570 biolink:NamedThing obsolete Brill-Zinsser disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005680 True owl:Class MONDO:0005317 biolink:NamedThing obsolete fatty liver tmpak2llvmy_mondo_relaxed.owl MONDO:0004790 True owl:Class MONDO:0000617 biolink:NamedThing obsolete Her2-receptor positive breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006244 True owl:Class MONDO:0011666 biolink:NamedThing obsolete maturity-onset diabetes of the young tmpak2llvmy_mondo_relaxed.owl MONDO:0018911 True owl:Class MONDO:0016569 biolink:NamedThing obsolete rare lymphatic malformation tmpak2llvmy_mondo_relaxed.owl MONDO:0002013 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/416 owl:Class MONDO:0020350 biolink:NamedThing obsolete Miller-Fisher syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0005851 True owl:Class MONDO:0003483 biolink:NamedThing obsolete gastric squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006230 True owl:Class MONDO:0003160 biolink:NamedThing obsolete sebaceous carcinoma An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpak2llvmy_mondo_relaxed.owl MONDO:0006962 True owl:Class MONDO:0006911 biolink:NamedThing obsolete placental site trophoblastic tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0020552 True owl:Class MONDO:0003484 biolink:NamedThing obsolete penis squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018352 True owl:Class MONDO:0000420 biolink:NamedThing obsolete cerebral folate receptor alpha deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0013110 True owl:Class MONDO:0000311 biolink:NamedThing obsolete congenital hypothyroidism tmpak2llvmy_mondo_relaxed.owl MONDO:0018612 True owl:Class MONDO:0016074 biolink:NamedThing obsolete fibrosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005164 True owl:Class MONDO:0006319 biolink:NamedThing obsolete nevus of Ota tmpak2llvmy_mondo_relaxed.owl MONDO:0016984 True owl:Class MONDO:0004676 biolink:NamedThing obsolete progressive myoclonus epilepsy tmpak2llvmy_mondo_relaxed.owl MONDO:0020074 True owl:Class MONDO:0005422 biolink:NamedThing obsolete nodular sclerosis Hodgkin lymphoma A distinct, highly heritable Hodgkin lymphoma subtype. tmpak2llvmy_mondo_relaxed.owl MONDO:0004665 True owl:Class MONDO:0017125 biolink:NamedThing obsolete oculofaciocardiodental syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0010261 True https://github.com/monarch-initiative/mondo/issues/2691 owl:Class MONDO:0006236 biolink:NamedThing obsolete granular cell tumor of the neurohypophysis tmpak2llvmy_mondo_relaxed.owl MONDO:0003256 True owl:Class MONDO:0018524 biolink:NamedThing obsolete intraductal papillary mucinous carcinoma of pancreas tmpak2llvmy_mondo_relaxed.owl MONDO:0004285 True owl:Class MONDO:0007063 biolink:NamedThing obsolete long bone adamantinoma A adamantinoma that involves the long bone. tmpak2llvmy_mondo_relaxed.owl MONDO:0002422 True owl:Class MONDO:0001570 biolink:NamedThing obsolete locked-in syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016567 True owl:Class MONDO:0002430 biolink:NamedThing obsolete acute interstitial pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0019203 True owl:Class MONDO:0004823 biolink:NamedThing obsolete dextrocardia tmpak2llvmy_mondo_relaxed.owl MONDO:0015661 True owl:Class MONDO:0000511 biolink:NamedThing obsolete gallbladder adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006216 True owl:Class MONDO:0029146 biolink:NamedThing obsolete Saul-Wilson syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019407 True owl:Class MONDO:0024267 biolink:NamedThing obsolete epidemic encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019384 True owl:Class MONDO:0002825 biolink:NamedThing obsolete Meige syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019772 True owl:Class MONDO:0006048 biolink:NamedThing obsolete pancreatic neuroendocrine tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0019954 True owl:Class MONDO:0008032 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1A tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0012215 True https://github.com/monarch-initiative/mondo/issues/2733 owl:Class dct:conformsTo biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003457 biolink:NamedThing obsolete ovarian serous adenofibroma tmpak2llvmy_mondo_relaxed.owl MONDO:0006340 True owl:Class MONDO:0011865 biolink:NamedThing obsolete COL4A1-related familial vascular leukoencephalopathy A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. tmpak2llvmy_mondo_relaxed.owl MONDO:0008289 True owl:Class MONDO:0000449 biolink:NamedThing obsolete Opitz-GBBB syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017138 True owl:Class MONDO:0004018 biolink:NamedThing obsolete liver carcinoma A carcinoma that involves the liver. tmpak2llvmy_mondo_relaxed.owl MONDO:0007256 True owl:Class MONDO:0002018 biolink:NamedThing obsolete Leber congenital amaurosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018998 True owl:Class IAO:0000228 biolink:NamedThing term imported tmpak2llvmy_mondo_relaxed.owl This is to be used when the original term has been replaced by a term imported from an other ontology. An editor note should indicate what is the URI of the new term to use. term imported IAO:0000225 MONDO:0001344 biolink:NamedThing obsolete neonatal diabetes mellitus tmpak2llvmy_mondo_relaxed.owl MONDO:0016391 True owl:Class MONDO:0017253 biolink:NamedThing obsolete anterior uveitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006651 True owl:Class MONDO:0017883 biolink:NamedThing obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential tmpak2llvmy_mondo_relaxed.owl MONDO:0003010 True owl:Class MONDO:0016590 biolink:NamedThing obsolete collecting duct carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005220 True owl:Class MONDO:0000571 biolink:NamedThing obsolete CD3zeta deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0012426 True owl:Class MONDO:0001483 biolink:NamedThing obsolete Crimean-Congo hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0020501 True owl:Class MONDO:0016389 biolink:NamedThing obsolete lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005062 True owl:Class MONDO:0000867 biolink:NamedThing obsolete multiple pterygium syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017415 True owl:Class MONDO:0000838 biolink:NamedThing obsolete chromosomal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019040 True owl:Class MONDO:0003613 biolink:NamedThing obsolete diffuse peritoneal leiomyomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0012632 biolink:NamedThing obsolete Alzheimer disease 15 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0011401 True https://github.com/monarch-initiative/mondo/issues/2767 owl:Class MONDO:0019598 biolink:NamedThing obsolete fragile X syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010383 True owl:Class MONDO:0012372 biolink:NamedThing obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features tmpak2llvmy_mondo_relaxed.owl MONDO:0007617 True owl:Class MONDO:0004692 biolink:NamedThing obsolete choledochal cyst tmpak2llvmy_mondo_relaxed.owl MONDO:0018805 True owl:Class MONDO:0002498 biolink:NamedThing obsolete glioblastoma multiforme tmpak2llvmy_mondo_relaxed.owl obsolete glioblastoma multiforme (disease) obsolete glioblastoma multiforme (disease) MONDO:0018177 True owl:Class GO:0044424 biolink:NamedThing obsolete intracellular part OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. tmpak2llvmy_mondo_relaxed.owl GO:0005622 True owl:Class MONDO:0000877 biolink:NamedThing obsolete Cryptococcal meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0005723 True owl:Class MONDO:0014279 biolink:NamedThing obsolete arrhythmogenic right ventricular dysplasia, familial, 13 tmpak2llvmy_mondo_relaxed.owl MONDO:0000908 True owl:Class MONDO:0003623 biolink:NamedThing obsolete pancreatic acinar cell adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006346 True owl:Class MONDO:0003560 biolink:NamedThing obsolete adenosquamous pancreas carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005614 True owl:Class MONDO:0000285 biolink:NamedThing obsolete lujo hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017872 True owl:Class MONDO:0044630 biolink:NamedThing obsolete rere-related neurodevelopmental syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0014857 True owl:Class MONDO:0007076 biolink:NamedThing obsolete ocular albinism with sensorineural deafness tmpak2llvmy_mondo_relaxed.owl MONDO:0018138 True owl:Class MONDO:0003080 biolink:NamedThing obsolete indolent systemic mastocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0020331 True owl:Class MONDO:0000201 biolink:NamedThing obsolete thyroid cancer, nonmedullary tmpak2llvmy_mondo_relaxed.owl MONDO:0017896 True owl:Class MONDO:0003815 biolink:NamedThing obsolete Cronkhite-Canada syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0008283 True owl:Class MONDO:0018482 biolink:NamedThing obsolete squamous cell carcinoma of stomach tmpak2llvmy_mondo_relaxed.owl MONDO:0006230 True owl:Class MONDO:0004581 biolink:NamedThing obsolete localized scleroderma tmpak2llvmy_mondo_relaxed.owl MONDO:0019562 True owl:Class MONDO:0019051 biolink:NamedThing obsolete lysosomal disease tmpak2llvmy_mondo_relaxed.owl MONDO:0002561 True owl:Class MONDO:0006587 biolink:NamedThing obsolete nodular nonsuppurative panniculitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018063 True owl:Class MONDO:0000125 biolink:NamedThing obsolete fundus dystrophy, pseudoinflammatory tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0017374 biolink:NamedThing obsolete polydactyly tmpak2llvmy_mondo_relaxed.owl MONDO:0011348 True owl:Class MONDO:0000103 biolink:NamedThing obsolete Wilms tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0019004 True owl:Class MONDO:0005199 biolink:NamedThing obsolete peripartum cardiomyopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0018920 True owl:Class MONDO:0005818 biolink:NamedThing obsolete Langerhans cell sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019480 True owl:Class IAO:0000103 biolink:NamedThing failed exploratory term The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job tmpak2llvmy_mondo_relaxed.owl failed exploratory term Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:NamedIndividual MONDO:0001189 biolink:NamedThing obsolete esophageal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019086 True owl:Class MONDO:0006852 biolink:NamedThing obsolete meningococcal meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018059 True owl:Class MONDO:0003436 biolink:NamedThing obsolete lung oat cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0008433 Duplicate True https://github.com/monarch-initiative/mondo/issues/1579 owl:Class MONDO:0001696 biolink:NamedThing obsolete Ehlers-Danlos syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0020066 True owl:Class MONDO:0003961 biolink:NamedThing obsolete cervical large cell neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006138 True owl:Class MONDO:0006379 biolink:NamedThing obsolete pleural mesothelioma tmpak2llvmy_mondo_relaxed.owl obsolete pleural mesothelioma (disease) obsolete pleural mesothelioma (disease) MONDO:0003308 True owl:Class MONDO:0012560 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0011888 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class MONDO:0001425 biolink:NamedThing obsolete Rett syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010726 True owl:Class MONDO:0003131 biolink:NamedThing obsolete congenital mesoblastic nephroma tmpak2llvmy_mondo_relaxed.owl MONDO:0017043 True owl:Class MONDO:0003018 biolink:NamedThing obsolete myotonic disease tmpak2llvmy_mondo_relaxed.owl MONDO:0016107 True owl:Class MONDO:0008415 biolink:NamedThing obsolete Scholte syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010505 Replaced by https://omim.org/entry/300977 in OMIM True owl:Class MONDO:0002059 biolink:NamedThing obsolete breast duct papilloma tmpak2llvmy_mondo_relaxed.owl MONDO:0021097 True owl:Class MONDO:0000847 biolink:NamedThing obsolete pycnodysostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0009940 True owl:Class GO:0044452 biolink:NamedThing obsolete nucleolar part OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. tmpak2llvmy_mondo_relaxed.owl nucleolus component GO:0005730 True owl:Class GO:0072364 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0009834 biolink:NamedThing obsolete pancreatic insufficiency, combined exocrine tmpak2llvmy_mondo_relaxed.owl MONDO:0009479 True owl:Class MONDO:0000033 biolink:NamedThing obsolete frontonasal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0016643 True owl:Class MONDO:0004602 biolink:NamedThing obsolete polymyalgia rheumatica tmpak2llvmy_mondo_relaxed.owl MONDO:0019735 True owl:Class MONDO:0005781 biolink:NamedThing obsolete hantavirus pulmonary syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017879 True owl:Class MONDO:0002818 biolink:NamedThing obsolete adrenal cortical adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006639 True owl:Class MONDO:0002557 biolink:NamedThing obsolete schwannomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0008075 True owl:Class MONDO:0003048 biolink:NamedThing obsolete type C thymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006451 True owl:Class MONDO:0000982 biolink:NamedThing obsolete Brown's tendon sheath syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0014624 True owl:Class MONDO:0000095 biolink:NamedThing obsolete split-hand/foot malformation tmpak2llvmy_mondo_relaxed.owl MONDO:0016576 True owl:Class MONDO:0006535 biolink:NamedThing obsolete cicatricial pemphigoid tmpak2llvmy_mondo_relaxed.owl MONDO:0018746 True owl:Class MONDO:0015276 biolink:NamedThing obsolete prostate cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0008315 True owl:Class MONDO:0000401 biolink:NamedThing obsolete congenital bile acid synthesis defect tmpak2llvmy_mondo_relaxed.owl MONDO:0018841 True owl:Class MONDO:0019363 biolink:NamedThing obsolete murine typhus tmpak2llvmy_mondo_relaxed.owl MONDO:0000330 True owl:Class MONDO:0006958 biolink:NamedThing obsolete SAPHO syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019266 True owl:Class MONDO:0002391 biolink:NamedThing obsolete skin sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006414 True owl:Class MONDO:0000985 biolink:NamedThing obsolete ehrlichiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016003 True owl:Class MONDO:0020166 biolink:NamedThing obsolete telecanthus tmpak2llvmy_mondo_relaxed.owl MONDO:0008537 True owl:Class GO:0044439 biolink:NamedThing obsolete peroxisomal part OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). tmpak2llvmy_mondo_relaxed.owl peroxisome component GO:0005777 True owl:Class urn:swrl#e biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004002 biolink:NamedThing obsolete pancreatoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019035 True owl:Class MONDO:0018986 biolink:NamedThing obsolete leiomyosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005058 True owl:Class MONDO:0000059 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria tmpak2llvmy_mondo_relaxed.owl MONDO:0016826 True owl:Class MONDO:0007196 biolink:NamedThing obsolete bladder cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0001187 OMIM references Orphanet:157980 but this does not exist True owl:Class MONDO:0002294 biolink:NamedThing obsolete gangliocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016730 True owl:Class MONDO:0023616 biolink:NamedThing obsolete familial leiomyomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0007888 Term was retired in GARD. True https://github.com/monarch-initiative/mondo/issues/1723 owl:Class dc:publisher biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005421 biolink:NamedThing obsolete infantile hypertrophic pyloric stenosis tmpak2llvmy_mondo_relaxed.owl MONDO:0001560 True owl:Class MONDO:0016427 biolink:NamedThing obsolete coccidioidomycosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005706 True owl:Class MONDO:0005816 biolink:NamedThing obsolete Japanese encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019209 True owl:Class MONDO:0000043 biolink:NamedThing obsolete hypomagnesemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018100 True owl:Class MONDO:0002673 biolink:NamedThing obsolete dermatofibrosarcoma protuberans tmpak2llvmy_mondo_relaxed.owl MONDO:0011934 True owl:Class MONDO:0002339 biolink:NamedThing obsolete hemangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006500 True owl:Class MONDO:0000072 biolink:NamedThing obsolete myopathy, reducing body, X-linked tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000195 biolink:NamedThing obsolete atrial standstill tmpak2llvmy_mondo_relaxed.owl MONDO:0015281 True owl:Class MONDO:0003071 biolink:NamedThing obsolete epidermolysis bullosa simplex tmpak2llvmy_mondo_relaxed.owl MONDO:0017610 True owl:Class MONDO:0005600 biolink:NamedThing obsolete ovarian adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0000557 biolink:NamedThing obsolete hereditary ataxia tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0100309 True https://github.com/monarch-initiative/mondo/issues/2866 owl:Class MONDO:0000657 biolink:NamedThing obsolete gamma heavy chain disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015046 True owl:Class MONDO:0015973 biolink:NamedThing obsolete rare genetic coagulation disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0021181 True owl:Class MONDO:0004688 biolink:NamedThing obsolete sideroblastic anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0015194 True owl:Class MONDO:0009819 biolink:NamedThing obsolete idiopathic juvenile osteoporosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019409 True owl:Class MONDO:0018819 biolink:NamedThing obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009526 True owl:Class MONDO:0007081 biolink:NamedThing obsolete allergic bronchopulmonary aspergillosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015243 True owl:Class MONDO:0005955 biolink:NamedThing obsolete scrub typhus tmpak2llvmy_mondo_relaxed.owl MONDO:0019365 True owl:Class MONDO:0005360 biolink:NamedThing obsolete Dupuytren contracture tmpak2llvmy_mondo_relaxed.owl obsolete Dupuytren contracture (disease) obsolete Dupuytren contracture (disease) MONDO:0006345 True owl:Class MONDO:0000102 biolink:NamedThing obsolete vertigo tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002607 biolink:NamedThing obsolete lymphangioleiomyomatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0011705 True owl:Class MONDO:0007613 biolink:NamedThing obsolete fibromuscular dysplasia of arteries tmpak2llvmy_mondo_relaxed.owl MONDO:0006761 True owl:Class MONDO:0006914 biolink:NamedThing obsolete POEMS syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017364 True owl:Class MONDO:0000323 biolink:NamedThing obsolete familial adenomatous polyposis tmpak2llvmy_mondo_relaxed.owl MONDO:0008279 True owl:Class MONDO:0006293 biolink:NamedThing obsolete malignant mixed neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0005853 True owl:Class GO:0043901 biolink:NamedThing obsolete negative regulation of multi-organism process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000578 biolink:NamedThing obsolete CD3gamma deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0014276 True owl:Class MONDO:0000120 biolink:NamedThing obsolete ectopia lentis, isolated tmpak2llvmy_mondo_relaxed.owl MONDO:0015998 True owl:Class MONDO:0003259 biolink:NamedThing obsolete melioidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017775 True owl:Class MONDO:0006441 biolink:NamedThing obsolete T-cell prolymphocytic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019468 True owl:Class MONDO:0000765 biolink:NamedThing obsolete corneal stromal dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0020213 True owl:Class MONDO:0009640 biolink:NamedThing obsolete mitochondrial complex I deficiency, nuclear type tmpak2llvmy_mondo_relaxed.owl MONDO:0100223 Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent. True https://github.com/monarch-initiative/mondo/issues/2277 owl:Class MONDO:0000008 biolink:NamedThing obsolete bare lymphocyte syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0033981 biolink:NamedThing obsolete krt1-related diffuse nonepidermolytic keratoderma tmpak2llvmy_mondo_relaxed.owl MONDO:0010962 True owl:Class OBO:mondo#excluded_synonym biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0017959 biolink:NamedThing obsolete JMP syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009726 True owl:Class MONDO:0002394 biolink:NamedThing obsolete Leydig cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006266 True owl:Class MONDO:0014988 biolink:NamedThing obsolete 3-methylglutaconic aciduria, type VIII tmpak2llvmy_mondo_relaxed.owl MONDO:0044723 Duplicate True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0001448 biolink:NamedThing obsolete alveolar echinococcosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017282 True owl:Class GO:2001273 biolink:NamedThing obsolete regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. tmpak2llvmy_mondo_relaxed.owl regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0003101 biolink:NamedThing obsolete intraneural perineurioma tmpak2llvmy_mondo_relaxed.owl MONDO:0015032 True owl:Class GO:0033267 biolink:NamedThing obsolete axon part OBSOLETE. A part of an axon, a cell projection of a neuron. tmpak2llvmy_mondo_relaxed.owl GO:0030424 True owl:Class MONDO:0005368 biolink:NamedThing obsolete obsessive-compulsive disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0008114 True owl:Class MONDO:0003496 biolink:NamedThing obsolete endometrial squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006198 True owl:Class MONDO:0000205 biolink:NamedThing obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003407 biolink:NamedThing obsolete ovarian yolk sac tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006344 True owl:Class MONDO:0024289 biolink:NamedThing obsolete disorder of bilirubin metabolism tmpak2llvmy_mondo_relaxed.owl MONDO:0017755 True owl:Class MONDO:0002456 biolink:NamedThing obsolete cervix carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005131 True owl:Class MONDO:0002506 biolink:NamedThing obsolete early myoclonic encephalopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0016022 True owl:Class MONDO:0010470 biolink:NamedThing obsolete Baratela-Scott syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0014343 True https://github.com/monarch-initiative/mondo/issues/2961 owl:Class urn:swrl#z biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0019070 biolink:NamedThing obsolete liposarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005060 True owl:Class MONDO:0014655 biolink:NamedThing obsolete Bethlem myopathy 2 tmpak2llvmy_mondo_relaxed.owl MONDO:0034022 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0021720 biolink:NamedThing obsolete fetal alcohol spectrum disorders tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0000408 True https://github.com/monarch-initiative/mondo/issues/3393 owl:Class MONDO:0000506 biolink:NamedThing obsolete Caroli disease tmpak2llvmy_mondo_relaxed.owl MONDO:0010913 True owl:Class MONDO:0005637 biolink:NamedThing obsolete adult-onset Still disease tmpak2llvmy_mondo_relaxed.owl obsolete adult-onset Still's disease MONDO:0019355 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0019381 biolink:NamedThing obsolete eastern equine encephalitis tmpak2llvmy_mondo_relaxed.owl MONDO:0005736 True owl:Class MONDO:0000024 biolink:NamedThing obsolete exostoses, multiple tmpak2llvmy_mondo_relaxed.owl MONDO:0005508 True owl:Class GO:0044441 biolink:NamedThing obsolete ciliary part OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpak2llvmy_mondo_relaxed.owl flagellar part|flagellum part|cilium part|microtubule-based flagellum part|cilial part|flagellum component GO:0005929 True owl:Class MONDO:0007292 biolink:NamedThing obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0004914 True https://github.com/monarch-initiative/mondo/issues/3691 owl:Class MONDO:0006057 biolink:NamedThing obsolete thymic lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000951 True owl:Class MONDO:0000443 biolink:NamedThing obsolete adenylosuccinase lyase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0007068 True owl:Class MONDO:0015992 biolink:NamedThing obsolete progressive cone dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0000455 True owl:Class MONDO:0018176 biolink:NamedThing obsolete polymicrogyria tmpak2llvmy_mondo_relaxed.owl MONDO:0000087 True owl:Class MONDO:0016084 biolink:NamedThing obsolete Crigler-Najjar syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009044 True owl:Class MONDO:0002566 biolink:NamedThing obsolete complex regional pain syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019369 True owl:Class MONDO:0005540 biolink:NamedThing obsolete rectal adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002169 True owl:Class MONDO:0017908 biolink:NamedThing obsolete hyperekplexia tmpak2llvmy_mondo_relaxed.owl MONDO:0017658 True owl:Class MONDO:0006902 biolink:NamedThing obsolete periventricular leukomalacia tmpak2llvmy_mondo_relaxed.owl MONDO:0015742 True owl:Class MONDO:0000810 biolink:NamedThing obsolete DMD-related dilated cardiomyopathy A dilated cardiomyopathy that has material basis in mutations in the DMD gene. tmpak2llvmy_mondo_relaxed.owl MONDO:0010542 True owl:Class MONDO:0012633 biolink:NamedThing obsolete malaria tmpak2llvmy_mondo_relaxed.owl MONDO:0005136 True owl:Class MONDO:0001013 biolink:NamedThing obsolete fibrosclerosis of breast tmpak2llvmy_mondo_relaxed.owl MONDO:0006118 True owl:Class MONDO:0002210 biolink:NamedThing obsolete vulva squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0024609 True owl:Class MONDO:0013816 biolink:NamedThing obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques tmpak2llvmy_mondo_relaxed.owl MONDO:0019014 There appeared to be duplicate terms from Orphanet and OMIM, which should be combined into one class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0003116 biolink:NamedThing obsolete calciphylaxis tmpak2llvmy_mondo_relaxed.owl MONDO:0017215 True owl:Class MONDO:0000808 biolink:NamedThing obsolete hepatoid adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006243 True owl:Class MONDO:0015142 biolink:NamedThing obsolete ataxia syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0000437 True owl:Class MONDO:0015442 biolink:NamedThing obsolete hereditary breast and ovarian cancer syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0003582 True owl:Class MONDO:0005666 biolink:NamedThing obsolete berylliosis tmpak2llvmy_mondo_relaxed.owl MONDO:0015274 True owl:Class MONDO:0004945 biolink:NamedThing obsolete hypereosinophilic syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015691 True owl:Class MONDO:0006240 biolink:NamedThing obsolete hemangiopericytic neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0002789 True owl:Class MONDO:0000052 biolink:NamedThing obsolete leukodystrophy, hypomyelinating tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0015693 biolink:NamedThing obsolete composite lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005710 True owl:Class MONDO:0019400 biolink:NamedThing obsolete testicular seminomatous germ cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003669 True owl:Class MONDO:0000718 biolink:NamedThing obsolete Adams-Oliver syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007034 True owl:Class MONDO:0002820 biolink:NamedThing obsolete thyroid carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0002015 biolink:NamedThing obsolete brittle cornea syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009242 True owl:Class MONDO:0000287 biolink:NamedThing obsolete Lambert-Eaton myasthenic syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018556 True owl:Class MONDO:0000289 biolink:NamedThing obsolete selective IgM deficiency disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018039 True owl:Class MONDO:0019798 biolink:NamedThing obsolete acute hepatic porphyria tmpak2llvmy_mondo_relaxed.owl MONDO:0002520 True owl:Class MONDO:0002530 biolink:NamedThing obsolete malignant spindle cell melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006427 True owl:Class OIO:shorthand biolink:NamedThing shorthand tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000139 biolink:NamedThing obsolete microcephalic primordial dwarfism tmpak2llvmy_mondo_relaxed.owl MONDO:0017950 True owl:Class MONDO:0000258 biolink:NamedThing obsolete intestinal botulism tmpak2llvmy_mondo_relaxed.owl MONDO:0015805 True owl:Class MONDO:0000711 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 13 tmpak2llvmy_mondo_relaxed.owl MONDO:0008458 True owl:Class MONDO:0003491 biolink:NamedThing obsolete rectum squamous cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018515 True owl:Class MONDO:0000130 biolink:NamedThing obsolete hypercarotenemia and vitamin a deficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000260 biolink:NamedThing obsolete Kartagener syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016575 True owl:Class MONDO:0003977 biolink:NamedThing obsolete fibrillary astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016688 True owl:Class MONDO:0003148 biolink:NamedThing obsolete SM-AHNMD tmpak2llvmy_mondo_relaxed.owl MONDO:0020332 True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0009304 biolink:NamedThing obsolete Gorlin-Chaudhry-Moss syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0012853 OMIM merged these terms True https://github.com/monarch-initiative/mondo/issues/1685 owl:Class MONDO:0012649 biolink:NamedThing obsolete FTSD tmpak2llvmy_mondo_relaxed.owl MONDO:0044871 True owl:Class MONDO:0000099 biolink:NamedThing obsolete trichoepithelioma, multiple familial tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000362 biolink:NamedThing obsolete Sensenbrenner syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009032 True owl:Class MONDO:0000442 biolink:NamedThing obsolete paramyloidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0007100 True owl:Class MONDO:0018195 biolink:NamedThing obsolete non-seminomatous germ cell tumor of testis tmpak2llvmy_mondo_relaxed.owl MONDO:0002873 True owl:Class MONDO:0015956 biolink:NamedThing obsolete rare hereditary ataxia Rare hereditary ataxia. tmpak2llvmy_mondo_relaxed.owl MONDO:0000557 True owl:Class MONDO:0018863 biolink:NamedThing obsolete leptospirosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005825 True owl:Class MONDO:0004807 biolink:NamedThing obsolete Loeffler syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019122 True owl:Class MONDO:0000435 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006431 True owl:Class MONDO:0006129 biolink:NamedThing obsolete central nervous system lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002571 True owl:Class MONDO:0002826 biolink:NamedThing obsolete tuberculosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018076 True owl:Class MONDO:0060722 biolink:NamedThing obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities tmpak2llvmy_mondo_relaxed.owl MONDO:0013346 True owl:Class MONDO:0004734 biolink:NamedThing obsolete erythromelalgia tmpak2llvmy_mondo_relaxed.owl MONDO:0016028 True owl:Class MONDO:0022651 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 1 tmpak2llvmy_mondo_relaxed.owl MONDO:0007269 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class MONDO:0000092 biolink:NamedThing obsolete pyloric stenosis, infantile tmpak2llvmy_mondo_relaxed.owl MONDO:0001560 True owl:Class GO:0009108 biolink:NamedThing obsolete coenzyme biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpak2llvmy_mondo_relaxed.owl coenzyme anabolism|coenzyme synthesis|coenzyme and prosthetic group biosynthetic process|coenzyme and prosthetic group biosynthesis|coenzyme formation|coenzyme biosynthesis True owl:Class MONDO:0002753 biolink:NamedThing obsolete mucinous stomach adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006309 True owl:Class MONDO:0024460 biolink:NamedThing obsolete Herpesviridae infections tmpak2llvmy_mondo_relaxed.owl MONDO:0005794 True owl:Class GO:0044438 biolink:NamedThing obsolete microbody part OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpak2llvmy_mondo_relaxed.owl GO:0042579 True owl:Class OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000143 biolink:NamedThing obsolete multiple mitochondrial dysfunctions syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0015747 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0012189 True owl:Class MONDO:0019850 biolink:NamedThing obsolete precocious puberty tmpak2llvmy_mondo_relaxed.owl MONDO:0000088 True owl:Class MONDO:0001619 biolink:NamedThing obsolete relapsing fever tmpak2llvmy_mondo_relaxed.owl MONDO:0019633 True owl:Class MONDO:0004536 biolink:NamedThing obsolete villoglandular variant cervical mucinous adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006141 True owl:Class MONDO:0008997 biolink:NamedThing obsolete Cockayne syndrome A tmpak2llvmy_mondo_relaxed.owl MONDO:0019569 True owl:Class MONDO:0014463 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpak2llvmy_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0000391 biolink:NamedThing obsolete Bethlem myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0008029 True owl:Class MONDO:0002213 biolink:NamedThing obsolete tularemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018077 True owl:Class MONDO:0005228 biolink:NamedThing obsolete anaplastic large cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020325 True owl:Class MONDO:0008550 biolink:NamedThing obsolete thoracolaryngopelvic dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0008551 True owl:Class MONDO:0002126 biolink:NamedThing obsolete childhood absence epilepsy tmpak2llvmy_mondo_relaxed.owl MONDO:0010826 True owl:Class MONDO:0007575 biolink:NamedThing obsolete erythrokeratodermia variabilis tmpak2llvmy_mondo_relaxed.owl MONDO:0017851 True owl:Class MONDO:0017664 biolink:NamedThing obsolete rare genetic myoclonus tmpak2llvmy_mondo_relaxed.owl MONDO:0017663 True owl:Class MONDO:0000614 biolink:NamedThing obsolete estrogen-receptor negative breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0006513 True owl:Class GO:0100023 biolink:NamedThing obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002417 biolink:NamedThing obsolete ethmoid sinus adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006201 True owl:Class MONDO:0002151 biolink:NamedThing obsolete dysostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018234 True owl:Class GO:0051705 biolink:NamedThing obsolete multi-organism behavior OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl behavioral interaction with other organism|behavioural interaction with other organism|behavioral signaling|behavioural interaction between organisms|behavioral interaction between organisms|behavioral signalling True owl:Class MONDO:0001102 biolink:NamedThing obsolete chronic endophthalmitis tmpak2llvmy_mondo_relaxed.owl MONDO:0017203 True owl:Class GO:0043900 biolink:NamedThing obsolete regulation of multi-organism process OBSOLETE. Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0001278 biolink:NamedThing obsolete adult respiratory distress syndrome A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. tmpak2llvmy_mondo_relaxed.owl MONDO:0006502 True owl:Class MONDO:0002292 biolink:NamedThing obsolete granular cell tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006235 True owl:Class MONDO:0000235 biolink:NamedThing obsolete Rocky mountain spotted fever tmpak2llvmy_mondo_relaxed.owl MONDO:0019359 True owl:Class MONDO:0003521 biolink:NamedThing obsolete VIPoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019960 True owl:Class MONDO:0100334 biolink:NamedThing obsolete viral infectious disease or sequela tmpak2llvmy_mondo_relaxed.owl duplicate MONDO:0100321 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054 owl:Class MONDO:0000168 biolink:NamedThing obsolete mental retardation, X-linked, nonsyndromic tmpak2llvmy_mondo_relaxed.owl MONDO:0019181 True owl:Class MONDO:0022446 biolink:NamedThing obsolete amyloidosis nodular localized cutaneous tmpak2llvmy_mondo_relaxed.owl MONDO:0015302 duplicate True https://github.com/monarch-initiative/mondo/issues/139 owl:Class MONDO:0011394 biolink:NamedThing obsolete keratosis pilaris atrophicans tmpak2llvmy_mondo_relaxed.owl MONDO:0018855 True owl:Class MONDO:0000203 biolink:NamedThing obsolete Dehydrated hereditary stomatocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017910 True owl:Class MONDO:0000899 biolink:NamedThing obsolete malignant epithelioid hemangioendothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0015523 True owl:Class MONDO:0003106 biolink:NamedThing obsolete verrucous keratotic hemangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0018734 True owl:Class OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0014315 biolink:NamedThing obsolete Mitchell-Riley syndrome tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0017400 True https://github.com/monarch-initiative/mondo/issues/3099 owl:Class MONDO:0043181 biolink:NamedThing obsolete Refsum disease with increased pipecolic acidemia tmpak2llvmy_mondo_relaxed.owl MONDO:0009958 Obsoleted in OMIM. True https://github.com/monarch-initiative/mondo/issues/2590 owl:Class MONDO:0014849 biolink:NamedThing obsolete autosomal recessive nonsyndromic deafness 105 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0012091 True https://github.com/monarch-initiative/mondo/issues/3098 owl:Class MONDO:0002007 biolink:NamedThing obsolete VACTERL association tmpak2llvmy_mondo_relaxed.owl MONDO:0008642 True owl:Class MONDO:0010303 biolink:NamedThing obsolete colobomatous microphthalmia tmpak2llvmy_mondo_relaxed.owl MONDO:0000170 Duplicate. True https://github.com/monarch-initiative/mondo/issues/2533 owl:Class MONDO:0016849 biolink:NamedThing obsolete Nakajo-Nishimura syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0000886 biolink:NamedThing obsolete meningococcal meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006852 True owl:Class MONDO:0005014 biolink:NamedThing obsolete dermatomyositis Inflammation of the skin and muscle. tmpak2llvmy_mondo_relaxed.owl MONDO:0016367 True owl:Class MONDO:0000725 biolink:NamedThing obsolete Simpson-Golabi-Behmel syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010731 True owl:Class MONDO:0017358 biolink:NamedThing obsolete organic aciduria tmpak2llvmy_mondo_relaxed.owl MONDO:0000688 True owl:Class MONDO:0008144 biolink:NamedThing obsolete osteochondritis dissecans tmpak2llvmy_mondo_relaxed.owl MONDO:0017178 True owl:Class MONDO:0000752 biolink:NamedThing obsolete myelomeningocele tmpak2llvmy_mondo_relaxed.owl MONDO:0019773 True owl:Class MONDO:0003132 biolink:NamedThing obsolete rapidly progressive glomerulonephritis tmpak2llvmy_mondo_relaxed.owl MONDO:0017236 True owl:Class MONDO:0003838 biolink:NamedThing obsolete malignant ACTH producing neoplasm of pituitary gland tmpak2llvmy_mondo_relaxed.owl MONDO:0006069 True owl:Class MONDO:0005431 biolink:NamedThing obsolete toxic epidermal necrolysis tmpak2llvmy_mondo_relaxed.owl MONDO:0019810 True owl:Class MONDO:0003269 biolink:NamedThing obsolete subependymal giant cell astrocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016693 True owl:Class MONDO:0018275 biolink:NamedThing obsolete salt and pepper syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018274 This term was obsoleted from the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class https://w3id.org/biodatamodels/gff/end biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000370 biolink:NamedThing obsolete Askin's tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006094 True owl:Class MONDO:0008631 biolink:NamedThing obsolete renal agenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0018470 True owl:Class MONDO:0000215 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpak2llvmy_mondo_relaxed.owl MONDO:0020310 True owl:Class MONDO:0003583 biolink:NamedThing obsolete atypical lipomatous tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006097 True owl:Class MONDO:0013804 biolink:NamedThing obsolete intellectual disability, autosomal dominant 12 tmpak2llvmy_mondo_relaxed.owl MONDO:0007617 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1709 owl:Class MONDO:0005209 biolink:NamedThing obsolete cutaneous T-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000607 True owl:Class MONDO:0000277 biolink:NamedThing obsolete Argentine hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017874 True owl:Class MONDO:0044225 biolink:NamedThing obsolete creatine kinase, brain type, ectopic expression of tmpak2llvmy_mondo_relaxed.owl creatine KINASE, brain type, ectopic expression OF|CKBE HGNC:1992 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0002364 biolink:NamedThing obsolete Wolffian duct adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0024889 True owl:Class owl:deprecated biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018452 biolink:NamedThing obsolete deficiency of the interleukin-36 receptor antagonist tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0006334 biolink:NamedThing obsolete ovarian embryonal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003581 True owl:Class MONDO:0000025 biolink:NamedThing obsolete familial cold autoinflammatory syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018768 True owl:Class MONDO:0005604 biolink:NamedThing obsolete plasma cell leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018689 True owl:Class MONDO:0005882 biolink:NamedThing obsolete onchocerciasis tmpak2llvmy_mondo_relaxed.owl MONDO:0017137 True owl:Class MONDO:0004470 biolink:NamedThing obsolete osteochondrosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018381 True owl:Class MONDO:0000073 biolink:NamedThing obsolete nail disorder, nonsyndromic congenital tmpak2llvmy_mondo_relaxed.owl MONDO:0019284 True owl:Class MONDO:0014610 biolink:NamedThing obsolete ciliary dyskinesia, primary, 31 tmpak2llvmy_mondo_relaxed.owl moved to 243605 MONDO:0009477 True owl:Class MONDO:0003642 biolink:NamedThing obsolete oral submucous fibrosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018166 True owl:Class MONDO:0000398 biolink:NamedThing obsolete female breast cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0004379 True owl:Class MONDO:0005273 biolink:NamedThing obsolete refractory anemia with excess blasts tmpak2llvmy_mondo_relaxed.owl MONDO:0019454 True owl:Class MONDO:0015862 biolink:NamedThing obsolete embryonal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005440 True owl:Class MONDO:0018441 biolink:NamedThing obsolete hepatitis delta tmpak2llvmy_mondo_relaxed.owl MONDO:0005789 True owl:Class MONDO:0005931 biolink:NamedThing obsolete progressive multifocal leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0016318 True owl:Class MONDO:0000364 biolink:NamedThing obsolete severe congenital neutropenia tmpak2llvmy_mondo_relaxed.owl MONDO:0018542 True owl:Class MONDO:0005930 biolink:NamedThing obsolete postpoliomyelitis syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0017416 True owl:Class MONDO:0013494 biolink:NamedThing obsolete PSMNSW tmpak2llvmy_mondo_relaxed.owl MONDO:0100226 Replacing this with a non-mendelian form of this disease. True https://github.com/monarch-initiative/mondo/issues/2083 owl:Class MONDO:0000278 biolink:NamedThing obsolete Bolivian hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017875 True owl:Class MONDO:0018372 biolink:NamedThing obsolete osteonecrosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005380 True owl:Class IAO:0000426 biolink:NamedThing first order logic expression tmpak2llvmy_mondo_relaxed.owl first order logic expression PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0022434 biolink:NamedThing obsolete amelia cleft lip palate hydrocephalus iris coloboma tmpak2llvmy_mondo_relaxed.owl MONDO:0011052 True owl:Class MONDO:0000318 biolink:NamedThing obsolete wound botulism tmpak2llvmy_mondo_relaxed.owl MONDO:0015803 True owl:Class MONDO:0000505 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000402 True owl:Class MONDO:0016465 biolink:NamedThing obsolete multiple intestinal atresia tmpak2llvmy_mondo_relaxed.owl MONDO:0009465 True owl:Class MONDO:0000906 biolink:NamedThing obsolete Alzheimer disease 5 tmpak2llvmy_mondo_relaxed.owl obsolete Alzheimer's disease 5 MONDO:0011194 True owl:Class MONDO:0020085 biolink:NamedThing obsolete mastocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0007950 True owl:Class MONDO:0000998 biolink:NamedThing obsolete parotid disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005899 True owl:Class MONDO:0022406 biolink:NamedThing obsolete aksu von stockhausen syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0021836 True owl:Class MONDO:0000623 biolink:NamedThing obsolete organ system benign neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0005165 True owl:Class MONDO:0000869 biolink:NamedThing obsolete congenital fibrosis of the extraocular muscles tmpak2llvmy_mondo_relaxed.owl MONDO:0007614 True owl:Class MONDO:0018985 biolink:NamedThing obsolete trench fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005991 True owl:Class MONDO:0004154 biolink:NamedThing obsolete central nervous system embryonal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018843 True owl:Class MONDO:0005069 biolink:NamedThing obsolete narcolepsy with cataplexy tmpak2llvmy_mondo_relaxed.owl MONDO:0016158 True owl:Class MONDO:0000061 biolink:NamedThing obsolete microcephaly, primary, autosomal recessive tmpak2llvmy_mondo_relaxed.owl MONDO:0016660 True owl:Class MONDO:0005171 biolink:NamedThing obsolete chronic myeloproliferative disorder Chronic form of myeloproliferative neoplasm. tmpak2llvmy_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0019279 biolink:NamedThing obsolete alopecia tmpak2llvmy_mondo_relaxed.owl MONDO:0004907 True owl:Class MONDO:0001599 biolink:NamedThing obsolete Mikulicz disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019191 True owl:Class MONDO:0018517 biolink:NamedThing obsolete obsolete carcinoma of the anal canal tmpak2llvmy_mondo_relaxed.owl MONDO:0007108 True owl:Class GO:0100070 biolink:NamedThing obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0000064 biolink:NamedThing obsolete syndromic microphthalmia tmpak2llvmy_mondo_relaxed.owl MONDO:0016073 True owl:Class MONDO:0006775 biolink:NamedThing obsolete haemophilus influenzae meningitis tmpak2llvmy_mondo_relaxed.owl MONDO:0000889 True owl:Class MONDO:0006725 biolink:NamedThing obsolete diabetic angiopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0000960 True owl:Class MONDO:0013667 biolink:NamedThing obsolete myelodysplastic syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018881 True owl:Class MONDO:0035354 biolink:NamedThing obsolete IgG4-related systemic disease tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0017287 True https://github.com/monarch-initiative/mondo/issues/3539 owl:Class MONDO:0005400 biolink:NamedThing obsolete ventricular fibrillation tmpak2llvmy_mondo_relaxed.owl MONDO:0000190 True owl:Class MONDO:0000020 biolink:NamedThing obsolete elliptocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017319 True owl:Class MONDO:0006703 biolink:NamedThing obsolete chronic interstitial cystitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0020330 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-depleted type tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0004620 True https://github.com/monarch-initiative/mondo/issues/2981 owl:Class MONDO:0000051 biolink:NamedThing obsolete keratoderma, palmoplantar striate tmpak2llvmy_mondo_relaxed.owl See genetic heterogeneity of OMIM 148700. True owl:Class MONDO:0004783 biolink:NamedThing obsolete panhypopituitarism tmpak2llvmy_mondo_relaxed.owl MONDO:0019591 True owl:Class MONDO:0012065 biolink:NamedThing obsolete Stevens-Johnson syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018229 True owl:Class MONDO:0000419 biolink:NamedThing obsolete 3-Methylcrotonyl-CoA carboxylase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0018950 True owl:Class MONDO:0005553 biolink:NamedThing obsolete parathyroid disease tmpak2llvmy_mondo_relaxed.owl MONDO:0001223 True owl:Class GO:0006733 biolink:NamedThing obsolete oxidoreduction coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. tmpak2llvmy_mondo_relaxed.owl oxidoreduction coenzyme metabolism True owl:Class IAO:0000120 biolink:NamedThing metadata complete Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete. tmpak2llvmy_mondo_relaxed.owl metadata complete IAO:0000078 MONDO:0010291 biolink:NamedThing obsolete androgen insensitivity syndrome due to coactivator deficiency tmpak2llvmy_mondo_relaxed.owl androgen insensitivity syndrome due to coactivator deficiency MONDO:0019154 True owl:Class MONDO:0018518 biolink:NamedThing obsolete adenocarcinoma of the anal canal tmpak2llvmy_mondo_relaxed.owl MONDO:0002735 True owl:Class MONDO:0022512 biolink:NamedThing obsolete atrial septal defect coronary sinus tmpak2llvmy_mondo_relaxed.owl MONDO:0020435 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0005343 biolink:NamedThing obsolete viral human hepatitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006011 True owl:Class MONDO:0000641 biolink:NamedThing obsolete cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. tmpak2llvmy_mondo_relaxed.owl MONDO:0007959 True owl:Class MONDO:0016926 biolink:NamedThing obsolete Geleophysic dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0000127 True owl:Class MONDO:0020086 biolink:NamedThing obsolete idiopathic interstitial pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0002429 True owl:Class MONDO:0020551 biolink:NamedThing obsolete hydatidiform mole tmpak2llvmy_mondo_relaxed.owl MONDO:0006248 True owl:Class MONDO:0000071 biolink:NamedThing obsolete myopathy, myofibrillar tmpak2llvmy_mondo_relaxed.owl MONDO:0018943 OMIMPS:601419 True owl:Class MONDO:0000853 biolink:NamedThing obsolete Kniest dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0007987 True owl:Class MONDO:0020564 biolink:NamedThing obsolete well-differentiated liposarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005103 True owl:Class MONDO:0007928 biolink:NamedThing obsolete Fechtner syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007954 True owl:Class MONDO:0000533 biolink:NamedThing obsolete vaginal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0015867 True owl:Class OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000917 biolink:NamedThing obsolete thyroid lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019962 True owl:Class MONDO:0013019 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia, Pakistani type tmpak2llvmy_mondo_relaxed.owl MONDO:0019666 True owl:Class urn:swrl#a2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0023065 biolink:NamedThing obsolete encephalopathy recurrent of childhood tmpak2llvmy_mondo_relaxed.owl MONDO:0007539 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0021153 biolink:NamedThing obsolete genetic and acquired tmpak2llvmy_mondo_relaxed.owl somatic genetic True owl:Class MONDO:0019616 biolink:NamedThing obsolete germinoma of the central nervous system tmpak2llvmy_mondo_relaxed.owl MONDO:0002999 True owl:Class MONDO:0006667 biolink:NamedThing obsolete B- and T-cell mixed leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020322 True owl:Class MONDO:0024390 biolink:NamedThing obsolete actinomycotic infectious disease tmpak2llvmy_mondo_relaxed.owl MONDO:0006921 True owl:Class MONDO:0005162 biolink:NamedThing obsolete influenza infection tmpak2llvmy_mondo_relaxed.owl MONDO:0005812 True owl:Class MONDO:0009160 biolink:NamedThing obsolete Ehlers-Danlos syndrome, type 6 tmpak2llvmy_mondo_relaxed.owl MONDO:0016002 True owl:Class MONDO:0000084 biolink:NamedThing obsolete pigmented nodular adrenocortical disease tmpak2llvmy_mondo_relaxed.owl MONDO:0015999 True owl:Class MONDO:0000692 biolink:NamedThing obsolete Kleine-Levin syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007863 True owl:Class MONDO:0008360 biolink:NamedThing obsolete radioulnar synostosis tmpak2llvmy_mondo_relaxed.owl obsolete radioulnar synostosis (disease) obsolete radioulnar synostosis (disease) MONDO:0017985 True owl:Class MONDO:0000850 biolink:NamedThing obsolete hypochondroplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0007793 True owl:Class GO:0044446 biolink:NamedThing obsolete intracellular organelle part OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl GO:0043229 True owl:Class MONDO:0010935 biolink:NamedThing obsolete neuronopathy, distal hereditary motor, type 5A tmpak2llvmy_mondo_relaxed.owl MONDO:0015353 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/2354 owl:Class dc:subject biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0008987 biolink:NamedThing obsolete cirrhosis, familial tmpak2llvmy_mondo_relaxed.owl MONDO:0007329 True owl:Class GO:0006732 biolink:NamedThing obsolete coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpak2llvmy_mondo_relaxed.owl coenzyme metabolism|group transfer coenzyme metabolism|coenzyme and prosthetic group metabolism|group transfer coenzyme metabolic process|coenzyme and prosthetic group metabolic process True owl:Class GO:0097755 biolink:NamedThing obsolete positive regulation of blood vessel diameter OBSOLETE. Any process that increases the diameter of blood vessels. tmpak2llvmy_mondo_relaxed.owl positive regulation of vasodilation True owl:Class MONDO:0007484 biolink:NamedThing obsolete dyschromatosis universalis tmpak2llvmy_mondo_relaxed.owl MONDO:0000736 True owl:Class MONDO:0018238 biolink:NamedThing obsolete rare bone disease related to a common gene or pathway defect tmpak2llvmy_mondo_relaxed.owl MONDO:0005381 This is a grouping term that is probably not used clinically. True https://github.com/monarch-initiative/mondo/issues/1726 owl:Class MONDO:0016279 biolink:NamedThing obsolete adenosarcoma of the cervix uteri Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. tmpak2llvmy_mondo_relaxed.owl MONDO:0002876 True owl:Class MONDO:0000083 biolink:NamedThing obsolete Griscelli syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018306 True owl:Class MONDO:0000905 biolink:NamedThing obsolete cortisone reductase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0000193 True owl:Class MONDO:0018990 biolink:NamedThing obsolete pulmonary blastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005933 True owl:Class MONDO:0000522 biolink:NamedThing obsolete inflammatory myofibroblastic tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0015798 True owl:Class MONDO:0001010 biolink:NamedThing obsolete natural killer cell leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019470 True owl:Class MONDO:0008191 biolink:NamedThing obsolete human papillomavirus type 18 integration site 2 tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/hgnc/5167 True owl:Class MONDO:0005403 biolink:NamedThing obsolete neonatal systemic lupus erthematosus tmpak2llvmy_mondo_relaxed.owl MONDO:0018360 True owl:Class MONDO:0004722 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0010518 True owl:Class MONDO:0003213 biolink:NamedThing obsolete ampulla of vater carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006080 True owl:Class MONDO:0002111 biolink:NamedThing obsolete peritoneal mesothelioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006362 True owl:Class MONDO:0002020 biolink:NamedThing obsolete Blount disease tmpak2llvmy_mondo_relaxed.owl obsolete Blount's disease MONDO:0017194 True owl:Class MONDO:0004655 biolink:NamedThing obsolete acute megakaryoblastic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0018872 True owl:Class MONDO:0017208 biolink:NamedThing obsolete intermediate uveitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006806 True owl:Class MONDO:0003375 biolink:NamedThing obsolete uterus leiomyosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016262 True owl:Class FOODON:03400004 biolink:NamedThing obsolete: product type, other tmpak2llvmy_mondo_relaxed.owl http://purl.obolibrary.org/obo/FOODON_00001002 http://www.langual.org/langual_thesaurus.asp?termid=A0004 LanguaL curation note: Used only if the product does not fall under any of the major product types listed. [FDA CFSAN 1995] True http://langual.org owl:Class MONDO:0017938 biolink:NamedThing obsolete X-linked cleft palate and ankyloglossia tmpak2llvmy_mondo_relaxed.owl MONDO:0010560 These two terms are duplicates. True https://github.com/monarch-initiative/mondo/issues/2015 owl:Class MONDO:0000267 biolink:NamedThing obsolete cryptogenic organizing pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0015264 True owl:Class GO:0051186 biolink:NamedThing obsolete cofactor metabolic process OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate. tmpak2llvmy_mondo_relaxed.owl cofactor metabolism True owl:Class MONDO:0008646 biolink:NamedThing obsolete long QT syndrome 1 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0100316 True https://github.com/monarch-initiative/mondo/issues/2330 owl:Class MONDO:0000319 biolink:NamedThing obsolete infant botulism tmpak2llvmy_mondo_relaxed.owl MONDO:0015804 True owl:Class MONDO:0011379 biolink:NamedThing obsolete medullary cystic kidney disease 2 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class MONDO:0000089 biolink:NamedThing obsolete age-related hearing impairment tmpak2llvmy_mondo_relaxed.owl MONDO:0005562 True owl:Class MONDO:0004850 biolink:NamedThing obsolete yellow fever tmpak2llvmy_mondo_relaxed.owl MONDO:0020502 True owl:Class MONDO:0000418 biolink:NamedThing obsolete Ohtahara syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0016021 True owl:Class http://geneontology.org/formats/oboInOwl#created_by biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000699 biolink:NamedThing obsolete homocarnosinosis tmpak2llvmy_mondo_relaxed.owl MONDO:0009351 True owl:Class GO:0044454 biolink:NamedThing obsolete nuclear chromosome part OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpak2llvmy_mondo_relaxed.owl GO:0000228 True owl:Class MONDO:0000360 biolink:NamedThing obsolete 2-hydroxyglutaric aciduria tmpak2llvmy_mondo_relaxed.owl MONDO:0016001 True owl:Class MONDO:0018970 biolink:NamedThing obsolete pemphigoid gestationis tmpak2llvmy_mondo_relaxed.owl MONDO:0006558 True owl:Class MONDO:0000122 biolink:NamedThing obsolete facial paresis, hereditary congenital tmpak2llvmy_mondo_relaxed.owl MONDO:0011090 True owl:Class MONDO:0004025 biolink:NamedThing obsolete spinal cord embryonal tumor, not otherwise specified tmpak2llvmy_mondo_relaxed.owl MONDO:0006426 True owl:Class MONDO:0000101 biolink:NamedThing obsolete tumoral calcinosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018891 True owl:Class MONDO:0000142 biolink:NamedThing obsolete multiple congenital anomalies-hypotonia-seizures syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0019042 True owl:Class MONDO:0019592 biolink:NamedThing obsolete disorder of sex development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. tmpak2llvmy_mondo_relaxed.owl MONDO:0002145 True owl:Class MONDO:0100140 biolink:NamedThing obsolete mild COVID-19 infection A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. tmpak2llvmy_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0002596 biolink:NamedThing obsolete chordoma tmpak2llvmy_mondo_relaxed.owl MONDO:0008978 True owl:Class MONDO:0007889 biolink:NamedThing obsolete lentigines tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0021582 True https://github.com/monarch-initiative/mondo/issues/3692 owl:Class MONDO:0006954 biolink:NamedThing obsolete rheumatic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017767 True owl:Class MONDO:0005935 biolink:NamedThing obsolete reactive arthritis tmpak2llvmy_mondo_relaxed.owl MONDO:0017376 True owl:Class MONDO:0000131 biolink:NamedThing obsolete hyperpigmentation, familial progressive tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0001058 biolink:NamedThing obsolete gastric fundus cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0004950 True owl:Class MONDO:0003711 biolink:NamedThing obsolete malignant peripheral nerve sheath tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0017827 True owl:Class MONDO:0017115 biolink:NamedThing obsolete bifid nose tmpak2llvmy_mondo_relaxed.owl MONDO:0000110 True owl:Class MONDO:0004606 biolink:NamedThing obsolete pyoderma gangrenosum tmpak2llvmy_mondo_relaxed.owl MONDO:0018824 True owl:Class MONDO:0000091 biolink:NamedThing obsolete progressive familial heart block tmpak2llvmy_mondo_relaxed.owl MONDO:0019490 True owl:Class MONDO:0019842 biolink:NamedThing obsolete pituitary apoplexy tmpak2llvmy_mondo_relaxed.owl MONDO:0006908 True owl:Class IAO:0000602 biolink:NamedThing has associated axiom(fol) tmpak2llvmy_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(fol) An axiom expressed in first order logic using CLIF syntax Person:Alan Ruttenberg owl:AnnotationProperty dc:title biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0098679 biolink:NamedThing obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism. tmpak2llvmy_mondo_relaxed.owl regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003178 biolink:NamedThing obsolete laryngeal adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006264 True owl:Class MONDO:0000154 biolink:NamedThing obsolete Trichohepatoenteric syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003797 biolink:NamedThing obsolete inflammatory MFH tmpak2llvmy_mondo_relaxed.owl MONDO:0006480 True owl:Class MONDO:0013596 biolink:NamedThing obsolete nonsyndromic congenital nail disorder 10 tmpak2llvmy_mondo_relaxed.owl MONDO:0008060 True https://github.com/monarch-initiative/mondo/issues/1394 owl:Class OIO:hasOBONamespace biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004576 biolink:NamedThing obsolete pellagra tmpak2llvmy_mondo_relaxed.owl MONDO:0019975 True owl:Class MONDO:0018867 biolink:NamedThing obsolete maple syrup urine disease tmpak2llvmy_mondo_relaxed.owl MONDO:0009563 True owl:Class MONDO:0003794 biolink:NamedThing obsolete mediastinal neurilemmoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004398 True owl:Class MONDO:0018691 biolink:NamedThing obsolete endometrioid carcinoma of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0000582 biolink:NamedThing obsolete immunoglobulin alpha deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0000048 True owl:Class MONDO:0000606 biolink:NamedThing obsolete gluten allergy A allergy involving gluten. tmpak2llvmy_mondo_relaxed.owl gluten allergic disease|allergy to gluten|gluten allergic reaction|allergy of gluten MONDO:outOfScope DOID:0060057 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0007255 biolink:NamedThing obsolete colorectal cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0005575 True owl:Class MONDO:0003449 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpak2llvmy_mondo_relaxed.owl MONDO:0006439 True owl:Class MONDO:0017605 biolink:NamedThing obsolete ependymal tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0003266 True owl:Class MONDO:0005456 biolink:NamedThing obsolete avian influenza tmpak2llvmy_mondo_relaxed.owl MONDO:0018695 True owl:Class MONDO:0000100 biolink:NamedThing obsolete trichorhinophalangeal syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0016119 biolink:NamedThing obsolete mitochondrial myopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0009637 True owl:Class MONDO:0000691 biolink:NamedThing obsolete pain disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0021668 True owl:Class MONDO:0022940 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0022939 True owl:Class urn:swrl#p biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0003156 biolink:NamedThing obsolete adenosquamous carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006074 True owl:Class MONDO:0000404 biolink:NamedThing obsolete cell type cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0000207 biolink:NamedThing obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies tmpak2llvmy_mondo_relaxed.owl MONDO:0014176 True owl:Class MONDO:0001097 biolink:NamedThing obsolete juvenile glaucoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020367 True owl:Class MONDO:0002663 biolink:NamedThing obsolete systemic mastocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016586 True owl:Class http://www.w3.org/2004/02/skos/core#exactMatch biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005877 biolink:NamedThing obsolete nocardiosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017776 True owl:Class MONDO:0000546 biolink:NamedThing obsolete parotid gland adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006356 True owl:Class MONDO:0006942 biolink:NamedThing obsolete reflex epilepsy tmpak2llvmy_mondo_relaxed.owl MONDO:0017768 True owl:Class MONDO:0000048 biolink:NamedThing obsolete immunoglobulin A deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0001341 True owl:Class MONDO:0004791 biolink:NamedThing obsolete lipid storage disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019245 True owl:Class MONDO:0013347 biolink:NamedThing obsolete gastric cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0001056 True owl:Class IAO:0000425 biolink:NamedThing expand assertion to A macro expansion tag applied to an annotation property which can be expanded into a more detailed axiom. tmpak2llvmy_mondo_relaxed.owl expand assertion to ObjectProperty: RO??? Label: spatially disjoint from Annotations: expand_assertion_to "DisjointClasses: (http://purl.obolibrary.org/obo/BFO_0000051 some ?X) (http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty MONDO:0017873 biolink:NamedThing obsolete Ebola hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005737 True owl:Class MONDO:0000003 biolink:NamedThing obsolete 17-hydroxysteroid dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0013676 biolink:NamedThing obsolete hypermethioninemia due to adenosine kinase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0100255 Replaced this term with a new term with a new label. True https://github.com/monarch-initiative/mondo/issues/2587 owl:Class MONDO:0016111 biolink:NamedThing obsolete non-dystrophic myopathy with collagen 6 anomaly tmpak2llvmy_mondo_relaxed.owl Orphanet:206659 Obsolete in Orphanet True owl:Class MONDO:0000475 biolink:NamedThing obsolete pyrimidine metabolic disorder tmpak2llvmy_mondo_relaxed.owl MONDO:0019238 True owl:Class MONDO:0002019 biolink:NamedThing obsolete hypohidrotic ectodermal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0016535 True owl:Class MONDO:0019021 biolink:NamedThing obsolete pigmented villonodular synovitis tmpak2llvmy_mondo_relaxed.owl MONDO:0006906 True owl:Class MONDO:0001264 biolink:NamedThing obsolete Kyasanur forest disease tmpak2llvmy_mondo_relaxed.owl MONDO:0017881 True owl:Class MONDO:0001900 biolink:NamedThing obsolete central neurocytoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019134 True owl:Class MONDO:0002767 biolink:NamedThing obsolete protein C deficiency A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. tmpak2llvmy_mondo_relaxed.owl MONDO:0019145 True owl:Class MONDO:0004776 biolink:NamedThing obsolete infectious anterior uveitis tmpak2llvmy_mondo_relaxed.owl MONDO:0017210 True owl:Class MONDO:0000581 biolink:NamedThing obsolete lambda 5 deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0013287 This was considered a duplicate. True https://github.com/monarch-initiative/mondo/issues/383 owl:Class MONDO:0020335 biolink:NamedThing obsolete desquamative interstitial pneumonia tmpak2llvmy_mondo_relaxed.owl MONDO:0009887 True owl:Class MONDO:0007954 biolink:NamedThing obsolete May-Hegglin anomaly tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0015912 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0018836 biolink:NamedThing obsolete subcorneal pustular dermatosis tmpak2llvmy_mondo_relaxed.owl MONDO:0006614 True owl:Class MONDO:0011328 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1E tmpak2llvmy_mondo_relaxed.owl MONDO:0018098 True owl:Class MONDO:0021937 biolink:NamedThing obsolete Asrar Facharzt Haque syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0011273 True owl:Class MONDO:0002925 biolink:NamedThing obsolete extraosseous Ewing's sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018270 True owl:Class MONDO:0017099 biolink:NamedThing obsolete facioscapulohumeral dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0001347 True owl:Class MONDO:0003779 biolink:NamedThing obsolete gliomatosis cerebri tmpak2llvmy_mondo_relaxed.owl MONDO:0016683 True owl:Class MONDO:0023008 biolink:NamedThing obsolete drachtman weinblatt sitarz syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0023007 True owl:Class MONDO:0001839 biolink:NamedThing obsolete interstitial cystitis tmpak2llvmy_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0018350 biolink:NamedThing obsolete malignant tumor of penis tmpak2llvmy_mondo_relaxed.owl MONDO:0001325 True owl:Class rdfs:label biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002024 biolink:NamedThing obsolete cholera tmpak2llvmy_mondo_relaxed.owl MONDO:0015766 True owl:Class MONDO:0000439 biolink:NamedThing obsolete batten disease tmpak2llvmy_mondo_relaxed.owl MONDO:0019262 True owl:Class MONDO:0018345 biolink:NamedThing obsolete T+ B+ severe combined immunodeficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0044200|MONDO:0044201 True owl:Class MONDO:0012026 biolink:NamedThing obsolete myotonia, potassium-aggravated tmpak2llvmy_mondo_relaxed.owl MONDO:0018959 True owl:Class MONDO:0002980 biolink:NamedThing obsolete myofibroma tmpak2llvmy_mondo_relaxed.owl MONDO:0006312 True owl:Class MONDO:0003339 biolink:NamedThing obsolete hepatoerythropoietic porphyria tmpak2llvmy_mondo_relaxed.owl MONDO:0019799 True owl:Class MONDO:0007926 biolink:NamedThing obsolete Waldenstrom macroglobulinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0100280 Split into generic and type 1 subtype from OMIM (OMIM:153600). True https://github.com/monarch-initiative/mondo/issues/2562 owl:Class MONDO:0004437 biolink:NamedThing obsolete gastric signet ring cell adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006409 True owl:Class MONDO:0005547 biolink:NamedThing obsolete desmoplastic medulloblastoma tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0016711 True https://github.com/monarch-initiative/mondo/issues/3139 owl:Class MONDO:0004809 biolink:NamedThing obsolete cannabis abuse tmpak2llvmy_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0006253 biolink:NamedThing obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant tmpak2llvmy_mondo_relaxed.owl MONDO:0004278 True owl:Class MONDO:0023037 biolink:NamedThing obsolete elongated styloid process syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0023035 True owl:Class MONDO:0006310 biolink:NamedThing obsolete mucinuos carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0004957 True owl:Class MONDO:0005633 biolink:NamedThing obsolete acute disseminated encephalomyelitis tmpak2llvmy_mondo_relaxed.owl MONDO:0019383 True owl:Class MONDO:0005455 biolink:NamedThing obsolete cholangiocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019087 True owl:Class MONDO:0000445 biolink:NamedThing obsolete neuroacanthocytosis tmpak2llvmy_mondo_relaxed.owl MONDO:0016987 True owl:Class MONDO:0001755 biolink:NamedThing obsolete vaginal carcinosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006488 True owl:Class MONDO:0000145 biolink:NamedThing obsolete premature aging syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class OBO:mondo#excluded_subClassOf biolink:NamedThing excluded subClassOf tmpak2llvmy_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0015670 biolink:NamedThing obsolete cardiomyopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0004994 True owl:Class MONDO:0000832 biolink:NamedThing obsolete myeloid neoplasm tmpak2llvmy_mondo_relaxed.owl MONDO:0005170 True owl:Class MONDO:0002500 biolink:NamedThing obsolete gliosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016681 True owl:Class MONDO:0019090 biolink:NamedThing obsolete meconium aspiration syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0006851 True owl:Class MONDO:0015563 biolink:NamedThing obsolete blue cone monochromatism tmpak2llvmy_mondo_relaxed.owl MONDO:0010563 True owl:Class MONDO:0002895 biolink:NamedThing obsolete dentinogenesis imperfecta tmpak2llvmy_mondo_relaxed.owl MONDO:0018849 True owl:Class MONDO:0000352 biolink:NamedThing obsolete hereditary sensory neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:0015364 True owl:Class MONDO:0005839 biolink:NamedThing obsolete Marburg hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0020500 True owl:Class MONDO:0016737 biolink:NamedThing obsolete ganglioneuroma tmpak2llvmy_mondo_relaxed.owl MONDO:0005033 True owl:Class MONDO:0007394 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0009031 True owl:Class MONDO:0020255 biolink:NamedThing obsolete oculomotor palsy tmpak2llvmy_mondo_relaxed.owl MONDO:0001309 True owl:Class IAO:0000123 biolink:NamedThing metadata incomplete Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors. tmpak2llvmy_mondo_relaxed.owl metadata incomplete IAO:0000078 MONDO:0018313 biolink:NamedThing obsolete uveal melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006486 True owl:Class MONDO:0000441 biolink:NamedThing obsolete X-linked myopathy with excessive autophagy tmpak2llvmy_mondo_relaxed.owl MONDO:0010684 True owl:Class MONDO:0005226 biolink:NamedThing obsolete acute basophilic leukemia tmpak2llvmy_mondo_relaxed.owl MONDO:0019458 True owl:Class MONDO:0003020 biolink:NamedThing obsolete orofaciodigital syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015375 True owl:Class MONDO:0003119 biolink:NamedThing obsolete histiocytoid hemangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0021169 True owl:Class MONDO:0006136 biolink:NamedThing obsolete cervical endometrioid adenocarcinoma tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003179 biolink:NamedThing obsolete lacrimal gland adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006262 True owl:Class MONDO:0019382 biolink:NamedThing obsolete Colorado tick fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005708 True owl:Class MONDO:0000562 biolink:NamedThing obsolete hypomyelinating leukoencephalopathy tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0006370 biolink:NamedThing obsolete pineoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016722 True owl:Class MONDO:0019481 biolink:NamedThing obsolete follicular dendritic cell sarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005764 True owl:Class MONDO:0021087 biolink:NamedThing obsolete malignant granular cell myoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003252 True owl:Class MONDO:0006110 biolink:NamedThing obsolete bladder adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002751 True owl:Class MONDO:0000547 biolink:NamedThing obsolete ovarian serous carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005211 True owl:Class MONDO:0000134 biolink:NamedThing obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia tmpak2llvmy_mondo_relaxed.owl MONDO:0000507 True owl:Class MONDO:0000220 biolink:NamedThing obsolete anterior segment dysgenesis tmpak2llvmy_mondo_relaxed.owl MONDO:0019503 True owl:Class MONDO:0019812 biolink:NamedThing obsolete tricuspid valve prolapse tmpak2llvmy_mondo_relaxed.owl MONDO:0007001 True owl:Class MONDO:0015105 biolink:NamedThing obsolete African tick typhus tmpak2llvmy_mondo_relaxed.owl MONDO:0024472 True owl:Class MONDO:0020498 biolink:NamedThing obsolete Lassa fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005820 True owl:Class MONDO:0003877 biolink:NamedThing obsolete cervical adenoid basal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006132 True owl:Class MONDO:0016741 biolink:NamedThing obsolete teratoma of the central nervous system tmpak2llvmy_mondo_relaxed.owl MONDO:0002718 True owl:Class MONDO:0019247 biolink:NamedThing obsolete combined hyperlipidemia (including acquired and inherited) tmpak2llvmy_mondo_relaxed.owl MONDO:0001807 True owl:Class MONDO:0003536 biolink:NamedThing obsolete fallopian tube serous adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006208 True owl:Class MONDO:0002609 biolink:NamedThing obsolete gangliosidosis GM1 tmpak2llvmy_mondo_relaxed.owl MONDO:0018149 True owl:Class MONDO:0002608 biolink:NamedThing obsolete gangliosidosis GM2 tmpak2llvmy_mondo_relaxed.owl MONDO:0017720 True owl:Class MONDO:0000035 biolink:NamedThing obsolete glucocorticoid deficiency tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002538 biolink:NamedThing obsolete progressive muscular atrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0018687 True owl:Class MONDO:0010445 biolink:NamedThing obsolete McLeod syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018945 True owl:Class MONDO:0002484 biolink:NamedThing obsolete breast ductal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0002668 biolink:NamedThing obsolete gallbladder adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006215 True owl:Class MONDO:0019166 biolink:NamedThing obsolete strongyloidiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0005974 True owl:Class OIO:created_by biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000399 biolink:NamedThing obsolete dyskinetic cerebral palsy tmpak2llvmy_mondo_relaxed.owl MONDO:0022697 True owl:Class MONDO:0018886 biolink:NamedThing obsolete listeriosis tmpak2llvmy_mondo_relaxed.owl MONDO:0005828 True owl:Class MONDO:0017777 biolink:NamedThing obsolete rat-bite fever tmpak2llvmy_mondo_relaxed.owl MONDO:0006941 True owl:Class MONDO:0002502 biolink:NamedThing obsolete giant cell glioblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0016682 True owl:Class MONDO:0004113 biolink:NamedThing obsolete HCL-v tmpak2llvmy_mondo_relaxed.owl MONDO:0017600 True owl:Class MONDO:0000433 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006495 True owl:Class MONDO:0000113 biolink:NamedThing obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0020565 biolink:NamedThing obsolete adenocarcinoma of esophagus tmpak2llvmy_mondo_relaxed.owl MONDO:0005028 True owl:Class MONDO:0002005 biolink:NamedThing obsolete acrodysostosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019797 True owl:Class MONDO:0006511 biolink:NamedThing obsolete developmental dysplasia of the hip tmpak2llvmy_mondo_relaxed.owl MONDO:0000158 True owl:Class MONDO:0005331 biolink:NamedThing obsolete acrocephalosyndactylia tmpak2llvmy_mondo_relaxed.owl MONDO:0019796 True owl:Class MONDO:0005934 biolink:NamedThing obsolete pyruvate decarboxylase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0019169 True owl:Class MONDO:0000109 biolink:NamedThing obsolete basal ganglia calcification, idiopathic tmpak2llvmy_mondo_relaxed.owl MONDO:0000720 True owl:Class MONDO:0022857 biolink:NamedThing obsolete continuous muscle fiber activity hereditary tmpak2llvmy_mondo_relaxed.owl MONDO:0019943 True owl:Class MONDO:0002302 biolink:NamedThing obsolete acromegaly tmpak2llvmy_mondo_relaxed.owl MONDO:0019933 True owl:Class MONDO:0021122 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0000402 True owl:Class MONDO:0001934 biolink:NamedThing obsolete primary hypertrophic osteoarthropathy tmpak2llvmy_mondo_relaxed.owl MONDO:0016620 True owl:Class MONDO:0002349 biolink:NamedThing obsolete agammaglobulinemia tmpak2llvmy_mondo_relaxed.owl MONDO:0015977 True owl:Class MONDO:0000056 biolink:NamedThing obsolete mandibuloacral dysplasia with lipodystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0016584 True owl:Class MONDO:0006772 biolink:NamedThing obsolete glycogen storage disease VIII tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0010598 True https://github.com/monarch-initiative/mondo/issues/2648 owl:Class dc:relation biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0013451 biolink:NamedThing obsolete progressive myoclonic epilepsy type 5 tmpak2llvmy_mondo_relaxed.owl MONDO:0011835 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1707 owl:Class MONDO:0000570 biolink:NamedThing obsolete severe combined immunodeficiency due to artemis deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0011225 True owl:Class MONDO:0005158 biolink:NamedThing obsolete coronary heart disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005010 True owl:Class GO:2000531 biolink:NamedThing obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0001077 biolink:NamedThing obsolete short bowel syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015183 True owl:Class MONDO:0003123 biolink:NamedThing obsolete multiple system atrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0007803 True owl:Class MONDO:0000696 biolink:NamedThing obsolete juvenile absence epilepsy tmpak2llvmy_mondo_relaxed.owl MONDO:0011876 True owl:Class MONDO:0000117 biolink:NamedThing obsolete diarrhea, congenital tmpak2llvmy_mondo_relaxed.owl MONDO:0000824 True owl:Class MONDO:0000018 biolink:NamedThing obsolete myotonic dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0016107 True owl:Class OBO:ro.owl#y biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0020471 biolink:NamedThing obsolete pituitary adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006373 True owl:Class MONDO:0017889 biolink:NamedThing obsolete mucinous tubular and spindle cell renal carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003011 True owl:Class FOODON:03411215 biolink:NamedThing obsolete: algae, bacteria or fungus tmpak2llvmy_mondo_relaxed.owl Disjunction discouraged, use specific item instead. http://www.langual.org/langual_thesaurus.asp?termid=B1215 True http://langual.org owl:Class MONDO:0000423 biolink:NamedThing obsolete coenzyme Q10 deficiency disease tmpak2llvmy_mondo_relaxed.owl MONDO:0018151 True owl:Class MONDO:0001891 biolink:NamedThing obsolete malignant anus melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006081 True owl:Class NCIT:P371 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0005623 biolink:NamedThing obsolete cell OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0023310 biolink:NamedThing obsolete hemiplegic migraine tmpak2llvmy_mondo_relaxed.owl MONDO:0018925 True owl:Class MONDO:0001450 biolink:NamedThing obsolete arachnoiditis tmpak2llvmy_mondo_relaxed.owl MONDO:0015304 True owl:Class MONDO:0002446 biolink:NamedThing obsolete hemoglobinopathy tmpak2llvmy_mondo_relaxed.owl MONDO:0019050 True owl:Class MONDO:0003094 biolink:NamedThing obsolete mucoepidermoid thyroid carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006463 True owl:Class dc:format biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002374 biolink:NamedThing obsolete parachordoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006351 True owl:Class MONDO:0015952 biolink:NamedThing obsolete genetic neurodegenerative disease tmpak2llvmy_mondo_relaxed.owl MONDO:0024237 True owl:Class GO:0005724 biolink:NamedThing obsolete nuclear telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus. tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0016246 biolink:NamedThing obsolete adenocarcinoma of ovary tmpak2llvmy_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0002838 biolink:NamedThing obsolete spindle cell carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006406 True owl:Class MONDO:0003151 biolink:NamedThing obsolete movement disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005395 True owl:Class MONDO:0000427 biolink:NamedThing obsolete autosomal recessive disease tmpak2llvmy_mondo_relaxed.owl MONDO:0006025 True owl:Class MONDO:0000177 biolink:NamedThing obsolete laryngeal abductor paralysis tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0006461 biolink:NamedThing obsolete thyroid gland carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0005237 biolink:NamedThing obsolete pleomorphic liposarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0020562 True owl:Class MONDO:0018966 biolink:NamedThing obsolete isolated growth hormone deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0000050 True owl:Class MONDO:0010701 biolink:NamedThing obsolete opticoacoustic nerve atrophy with dementia tmpak2llvmy_mondo_relaxed.owl MONDO:0010578 True owl:Class MONDO:0003440 biolink:NamedThing obsolete bladder flat intraepithelial lesion tmpak2llvmy_mondo_relaxed.owl MONDO:0006111 True owl:Class MONDO:0000281 biolink:NamedThing obsolete Chapare hemorrhagic fever tmpak2llvmy_mondo_relaxed.owl MONDO:0017878 True owl:Class MONDO:0005018 biolink:NamedThing obsolete diffuse large B-cell lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018905 True owl:Class MONDO:0002575 biolink:NamedThing obsolete prostate rhabdomyosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006389 True owl:Class MONDO:0000228 biolink:NamedThing obsolete Astrakhan spotted fever tmpak2llvmy_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0020314 biolink:NamedThing obsolete refractory anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0005272 True owl:Class MONDO:0005054 biolink:NamedThing obsolete juvenile dermatomyositis tmpak2llvmy_mondo_relaxed.owl MONDO:0008054 True owl:Class MONDO:0005733 biolink:NamedThing obsolete dirofilariasis tmpak2llvmy_mondo_relaxed.owl MONDO:0015636 True owl:Class MONDO:0003224 biolink:NamedThing obsolete spindle cell hemangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0016222 True owl:Class MONDO:0004399 biolink:NamedThing obsolete epithelial malignant thymoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006458 True owl:Class MONDO:0019343 biolink:NamedThing obsolete mixed connective tissue disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005854 True owl:Class MONDO:0000098 biolink:NamedThing obsolete thyrotoxic periodic paralysis tmpak2llvmy_mondo_relaxed.owl MONDO:0019201 True owl:Class dct:license biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000317 biolink:NamedThing obsolete foodborne botulism tmpak2llvmy_mondo_relaxed.owl MONDO:0016453 True owl:Class GO:1900402 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process. tmpak2llvmy_mondo_relaxed.owl regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003176 biolink:NamedThing obsolete cervical adenoid cystic carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006133 True owl:Class MONDO:0000856 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 6 tmpak2llvmy_mondo_relaxed.owl MONDO:0019551 True owl:Class MONDO:0000191 biolink:NamedThing obsolete renal hypodysplasia/aplasia tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0003247 biolink:NamedThing obsolete pineal parenchymal tumor of intermediate differentiation tmpak2llvmy_mondo_relaxed.owl MONDO:0006369 True owl:Class MONDO:0000296 biolink:NamedThing obsolete angiostrongyliasis tmpak2llvmy_mondo_relaxed.owl MONDO:0019143 True owl:Class GO:0044433 biolink:NamedThing obsolete cytoplasmic vesicle part OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. tmpak2llvmy_mondo_relaxed.owl GO:0031410 True owl:Class MONDO:0002284 biolink:NamedThing obsolete gangliosidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0017719 True owl:Class MONDO:0000184 biolink:NamedThing obsolete congenital vitamin K-dependent coagulation factors combined deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0015722 True https://github.com/monarch-initiative/mondo/issues/400 owl:Class MONDO:0010419 biolink:NamedThing obsolete X-linked sideroblastic anemia tmpak2llvmy_mondo_relaxed.owl MONDO:0020721 This term is duplicative with X-linked sideroblastic anemia 1. True https://github.com/monarch-initiative/mondo/issues/2107 owl:Class dc:creator biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0072361 biolink:NamedThing obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl True owl:Class GO:1900413 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process. tmpak2llvmy_mondo_relaxed.owl positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0000034 biolink:NamedThing obsolete glomerulopathy with fibronectin deposits tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0005285 biolink:NamedThing obsolete kidney stone tmpak2llvmy_mondo_relaxed.owl MONDO:0008171 True owl:Class MONDO:0000047 biolink:NamedThing obsolete immunodeficiency with hyper-IgM tmpak2llvmy_mondo_relaxed.owl MONDO:0003947 True owl:Class MONDO:0024293 biolink:NamedThing obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0017790 True https://github.com/monarch-initiative/mondo/issues/3416 owl:Class OBO:mondo#should_conform_to biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty OIO:is_metadata_tag biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0044422 biolink:NamedThing obsolete organelle part OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. tmpak2llvmy_mondo_relaxed.owl GO:0043226 True owl:Class MONDO:0018726 biolink:NamedThing obsolete immunodeficiency due to a complement cascade component deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0003832 True owl:Class MONDO:0011526 biolink:NamedThing obsolete Sebastian syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007954 True owl:Class dc:source biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty https://w3id.org/biodatamodels/gff/start biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000325 biolink:NamedThing obsolete pachyonychia congenita tmpak2llvmy_mondo_relaxed.owl MONDO:0016471 True owl:Class MONDO:0000585 biolink:NamedThing obsolete Good syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015696 True owl:Class MONDO:0003662 biolink:NamedThing obsolete endometrioid ovary carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0006910 biolink:NamedThing obsolete pituitary-dependent Cushing disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020528 Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS True owl:Class MONDO:0000097 biolink:NamedThing obsolete thyroid dyshormonogenesis tmpak2llvmy_mondo_relaxed.owl True owl:Class MONDO:0002983 biolink:NamedThing obsolete neuromuscular junction disease tmpak2llvmy_mondo_relaxed.owl MONDO:0020124 True owl:Class MONDO:0005958 biolink:NamedThing obsolete sex cord-stromal tumor tmpak2llvmy_mondo_relaxed.owl MONDO:0006055 True owl:Class MONDO:0000067 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0018158 True owl:Class MONDO:0002793 biolink:NamedThing obsolete medullomyoblastoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006300 True owl:Class MONDO:0005703 biolink:NamedThing obsolete Churg-Strauss syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0015943 True owl:Class MONDO:0022939 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpak2llvmy_mondo_relaxed.owl MONDO:0043176 Obsolete in GARD. True https://github.com/monarch-initiative/mondo/issues/1596 owl:Class urn:swrl#mf2 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0003221 biolink:NamedThing obsolete sclerosing hemangioma tmpak2llvmy_mondo_relaxed.owl MONDO:0006280 True owl:Class MONDO:0000868 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome 6 tmpak2llvmy_mondo_relaxed.owl MTDPS6|mitochondrial DNA depletion syndrome type 6 MONDO:0009747 True owl:Class GO:0140603 biolink:NamedThing obsolete ATP hydrolysis activity OBSOLETE. Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpak2llvmy_mondo_relaxed.owl GO:0016887 True owl:Class MONDO:0002160 biolink:NamedThing obsolete cerebral palsy tmpak2llvmy_mondo_relaxed.owl MONDO:0006497 True owl:Class MONDO:0019566 biolink:NamedThing obsolete Klippel-Trenaunay syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0007864 True owl:Class MONDO:0000013 biolink:NamedThing obsolete choroidal dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0008982 True owl:Class MONDO:0021628 biolink:NamedThing obsolete lacrimal system disease tmpak2llvmy_mondo_relaxed.owl MONDO:0001854 True owl:Class MONDO:0017751 biolink:NamedThing obsolete Reye syndrome tmpak2llvmy_mondo_relaxed.owl MONDO:0005942 True owl:Class MONDO:0005869 biolink:NamedThing obsolete myiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0019147 True owl:Class MONDO:0002315 biolink:NamedThing obsolete hereditary spastic paraplegia tmpak2llvmy_mondo_relaxed.owl MONDO:0019064 True owl:Class MONDO:0002743 biolink:NamedThing obsolete prostate colloid adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006067 True owl:Class MONDO:0005685 biolink:NamedThing obsolete bullous pemphigoid tmpak2llvmy_mondo_relaxed.owl MONDO:0019082 True owl:Class urn:swrl#D biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable dc:description biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002893 biolink:NamedThing obsolete chondroid chordoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006145 True owl:Class GO:0097756 biolink:NamedThing obsolete negative regulation of blood vessel diameter OBSOLETE. Any process that decreases the diameter of blood vessels. tmpak2llvmy_mondo_relaxed.owl negative regulation of vasodilation True owl:Class dc:coverage biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty GO:0044425 biolink:NamedThing obsolete membrane part OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpak2llvmy_mondo_relaxed.owl GO:0016020 True owl:Class MONDO:0000347 biolink:NamedThing obsolete adult T-cell leukemia/lymphoma tmpak2llvmy_mondo_relaxed.owl MONDO:0019471 True owl:Class dc:date biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000068 biolink:NamedThing obsolete mucolipidosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019248 True owl:Class OIO:inSubset biolink:NamedThing in_subset tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty OIO:hasAlternativeId biolink:NamedThing has_alternative_id tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005951 biolink:NamedThing obsolete sarcocystosis tmpak2llvmy_mondo_relaxed.owl MONDO:0018903 True owl:Class MONDO:0006454 biolink:NamedThing obsolete thymic squamous cell carcinoma A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpak2llvmy_mondo_relaxed.owl MONDO:0003493 True owl:Class MONDO:0005612 biolink:NamedThing obsolete ovarian leiomyosarcoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003355 True owl:Class urn:swrl#C biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006575 biolink:NamedThing obsolete loiasis tmpak2llvmy_mondo_relaxed.owl MONDO:0016566 True owl:Class MONDO:0005337 biolink:NamedThing obsolete neuropathy tmpak2llvmy_mondo_relaxed.owl MONDO:0005244 True owl:Class MONDO:0001043 biolink:NamedThing obsolete diaphragm disease tmpak2llvmy_mondo_relaxed.owl MONDO:0005728 True owl:Class MONDO:0002689 biolink:NamedThing obsolete pseudomyxoma peritonei tmpak2llvmy_mondo_relaxed.owl MONDO:0017048 True owl:Class MONDO:0003239 biolink:NamedThing obsolete Camurati-Engelmann disease tmpak2llvmy_mondo_relaxed.owl MONDO:0007542 True owl:Class MONDO:0017821 biolink:NamedThing obsolete functioning pituitary adenoma tmpak2llvmy_mondo_relaxed.owl MONDO:0003429 True owl:Class GO:0072362 biolink:NamedThing obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpak2llvmy_mondo_relaxed.owl regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0001346 biolink:NamedThing obsolete distal muscular dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0018949 True owl:Class urn:swrl#g1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0005024 biolink:NamedThing obsolete emphysema tmpak2llvmy_mondo_relaxed.owl MONDO:0004849 True owl:Class NCIT:A11 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000697 biolink:NamedThing obsolete succinic semialdehyde dehydrogenase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0010083 True owl:Class MONDO:0021684 biolink:NamedThing obsolete infectious disease of central nervous system tmpak2llvmy_mondo_relaxed.owl MONDO:0024619 True owl:Class OIO:is_class_level biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003207 biolink:NamedThing obsolete eccrine adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0024240 True owl:Class ENVO:01000010 biolink:NamedThing obsolete abiotic mesoscopic physical object tmpak2llvmy_mondo_relaxed.owl True owl:Class urn:swrl#B biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004073 biolink:NamedThing obsolete dentin dysplasia tmpak2llvmy_mondo_relaxed.owl MONDO:0015613 True owl:Class urn:swrl#a1 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable urn:swrl#w biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable http://protege.stanford.edu/plugins/owl/protege#defaultLanguage biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0001131 biolink:NamedThing obsolete duodenum adenocarcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0006186 True owl:Class MONDO:0004590 biolink:NamedThing obsolete fundus dystrophy tmpak2llvmy_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0005427 biolink:NamedThing obsolete vasuclar dementia tmpak2llvmy_mondo_relaxed.owl MONDO:0004648 True owl:Class MONDO:0005521 biolink:NamedThing obsolete shigellosis tmpak2llvmy_mondo_relaxed.owl MONDO:0019345 True owl:Class OBO:ro.owl#x biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:is_inferred biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000403 biolink:NamedThing obsolete organ system cancer tmpak2llvmy_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0006080 biolink:NamedThing obsolete ampulla of vater carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0017590 True owl:Class MONDO:0001759 biolink:NamedThing obsolete patent foramen ovale tmpak2llvmy_mondo_relaxed.owl MONDO:0020439 True owl:Class urn:swrl#eff biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable dc:type biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0018194 biolink:NamedThing obsolete sex cord-stromal tumor of testis tmpak2llvmy_mondo_relaxed.owl MONDO:0003125 True owl:Class MONDO:0003063 biolink:NamedThing obsolete hydranencephaly tmpak2llvmy_mondo_relaxed.owl MONDO:0016344 True owl:Class MONDO:0017702 biolink:NamedThing obsolete glycerol kinase deficiency tmpak2llvmy_mondo_relaxed.owl MONDO:0010613 True owl:Class BFO:0000179 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#mf biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable dc:language biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0011278 biolink:NamedThing obsolete bile duct cysts tmpak2llvmy_mondo_relaxed.owl terms merged MONDO:0018805 True https://github.com/monarch-initiative/mondo/issues/3613 owl:Class MONDO:0000042 biolink:NamedThing obsolete hyperprolinemia tmpak2llvmy_mondo_relaxed.owl True owl:Class OIO:source biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000057 biolink:NamedThing obsolete medullary cystic kidney disease tmpak2llvmy_mondo_relaxed.owl True owl:Class RO:0001900 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004003 biolink:NamedThing obsolete pancreatic solid pseudopapillary carcinoma tmpak2llvmy_mondo_relaxed.owl MONDO:0018525 True owl:Class MONDO:0000039 biolink:NamedThing obsolete hypercalciuria, absorptive tmpak2llvmy_mondo_relaxed.owl True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty OBO:ro.owl#z biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:ncbitaxon#has_rank biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty MONDO:0006171 biolink:NamedThing obsolete conjunctival melanoma tmpak2llvmy_mondo_relaxed.owl MONDO:0002096 True owl:Class urn:swrl#y biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable urn:swrl#x biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable BFO:0000180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl owl:AnnotationProperty DOID:5631 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1936 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN206744 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:352540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:126848003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/134520 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537387 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C565958 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1970199 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1832274 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/123150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618353 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563322 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/312830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851943 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:52428 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/190600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/241410 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4479619 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280612 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11227 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5704 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:4136 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567734 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617916 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230193008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563869 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:386 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0017536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85201 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/193450 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2919755 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3888307 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C62018 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10071015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536688 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C564115 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:209019 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200570 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:97978 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111281 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:190279008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060871 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1649 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10019827 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237919007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:369847 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:360375007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:403971002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4505 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C98863 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:60000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/261400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2748571 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10038300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/182830 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/619165 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4675 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563523 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:502423 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D057135 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:672 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2699838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110017 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2363973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090102 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:234349007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:201000006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0796192 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3151191 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0334250 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1856158 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618129 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4772 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3846 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538015 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4173 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/208150 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3280452 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C6083 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0008354 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0070095 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D000130 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265987 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:23966000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080475 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl http://identifiers.org/medgen/208928 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3843 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231419 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609985 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:54898003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3768 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/173580 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518749 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:723410002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C567385 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0860168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/610446 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:13348 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:313800 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:716863007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10016664 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537921 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028865 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:140997 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:717799003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10054161 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230746009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110247 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5679 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C563898 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1274788 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/107970 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447765004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C101223 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4288047 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:237957007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5667 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:9840 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84027009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN651336 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342762 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3272522 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C9118 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3818 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:99063 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855856 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:93616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204409 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0730308 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060389 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:6607 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0002170 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:80432009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:293725 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0524909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3740 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C7103 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:3243 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C40400 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:849 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10519 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1851443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:435819 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:84758004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:85175 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN119421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1333626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:2889 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050636 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1868681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:261483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0343206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0033845 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864323 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:217670007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:213620 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3714899 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:95431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0090049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D009265 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C535884 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4225206 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1517111 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:98797 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C3536893 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:230394006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0432335 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D018283 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080416 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0001748 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1336079 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C131681 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252050 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:197433003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5990 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1490 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:391408 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:15284007 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:2646 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14092 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:276148 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:719664004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251304 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10029235 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537236 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65545003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34572 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10287 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227233 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/618429 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013393 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:540 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0002116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN776920 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C48451 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0152096 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2931739 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110088 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C538397 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612622 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153240 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:10301 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:88348008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10047469 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN237766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:45030009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060531 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4638 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:5713 biolink:NamedThing 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biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C531698 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:754 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0175778 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1836255 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:252202 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0877024 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566138 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0751039 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/215600 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:765757003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:1891 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/614262 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:111578003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:91489 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080617 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C562626 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:27240009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10046058 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612932 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0153518 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0271431 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:251535 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:38993008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS204000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1837073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231242 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:449072004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:14545 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0265279 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C34508 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:60380001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1535926 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:65455002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:76618002 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/601808 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/604229 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0111357 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C5128 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0013447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/267760 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C4015186 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110345 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83586000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615349 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:285311001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C4537 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN227289 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN028850 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0060483 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:389203001 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:1702 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:3766 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:92259008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1511187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/203300 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:363382005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0078911 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566510 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:300915004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080166 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tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/615946 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/617443 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D001172 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83714006 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10028811 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0155421 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN200370 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:309526 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:8529 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:19620000 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN205187 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:443333004 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:96188 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN204099 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/612582 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:231466 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C3012 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/602771 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:83470009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1305256 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:217071 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN036342 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:447781009 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/257200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/613791 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C566046 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:CN199359 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607313 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1518743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:289347 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/160120 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:367 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:401973 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536049 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853616 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D058249 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/108200 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537447 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:477673 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MEDDRA:10060707 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1848743 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/300861 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:86909 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:2055003 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C2676507 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/249710 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:43116 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/201180 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C8536 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C138174 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:79094 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/609532 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252011 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1855733 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C536506 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1864663 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl NCIT:C142783 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl https://omim.org/entry/616577 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:235623002 biolink:NamedThing 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tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:371631005 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:206659 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:11838 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0342873 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl SNOMEDCT:254099008 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0050073 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:166032 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl ORPHA:448251 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0238525 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0110665 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:0080070 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C1853278 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:D049309 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl DOID:12168 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl UMLS:C0795917 biolink:NamedThing tmpak2llvmy_mondo_relaxed.owl MESH:C537541 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